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.63406937dup | CA2580098408 | KCNQ2 | c.2385dup (p.Glu796ArgfsTer?) c.2331dup (p.Glu778ArgfsTer?) c.1728dup (p.Glu577ArgfsTer?) c.2238dup (p.Glu747ArgfsTer?) c.1899dup (p.Glu634ArgfsTer?) c.2247dup (p.Glu750ArgfsTer?) c.2241+114dup (n.2241+114dup) c.2205+114dup (n.2205+114dup) c.2277dup (p.Glu760ArgfsTer?) c.2133+114dup (n.2133+114dup) c.1680-6089dup (n.1680-6089dup) c.2373dup (p.Glu792ArgfsTer?) c.2439dup (p.Glu814ArgfsTer?) c.2436dup (p.Glu813ArgfsTer?) c.2409dup (p.Glu804ArgfsTer?) c.2355dup (p.Glu786ArgfsTer?) c.2328dup (p.Glu777ArgfsTer?) c.2313dup (p.Glu772ArgfsTer?) c.1920dup (p.Glu641ArgfsTer?) c.2382dup (p.Glu795ArgfsTer?) c.2319dup (p.Glu774ArgfsTer?) c.2316dup (p.Glu773ArgfsTer?) c.2274dup (p.Glu759ArgfsTer?) c.1347dup (p.Glu450ArgfsTer?) | ClinVar gnomAD v4 |
20 | g.63406936_63406937dup | CA2573130266 | KCNQ2 | c.2384_2385dup (p.Glu796ProfsTer?) c.2330_2331dup (p.Glu778ProfsTer?) c.1727_1728dup (p.Glu577ProfsTer?) c.2237_2238dup (p.Glu747ProfsTer?) c.1898_1899dup (p.Glu634ProfsTer?) c.2246_2247dup (p.Glu750ProfsTer?) c.2241+113_2241+114dup (n.2241+113_2241+114dup) c.2205+113_2205+114dup (n.2205+113_2205+114dup) c.2276_2277dup (p.Glu760ProfsTer?) c.2133+113_2133+114dup (n.2133+113_2133+114dup) c.1680-6090_1680-6089dup (n.1680-6090_1680-6089dup) c.2372_2373dup (p.Glu792ProfsTer?) c.2438_2439dup (p.Glu814ProfsTer?) c.2435_2436dup (p.Glu813ProfsTer?) c.2408_2409dup (p.Glu804ProfsTer?) c.2354_2355dup (p.Glu786ProfsTer?) c.2327_2328dup (p.Glu777ProfsTer?) c.2312_2313dup (p.Glu772ProfsTer?) c.1919_1920dup (p.Glu641ProfsTer?) c.2381_2382dup (p.Glu795ProfsTer?) c.2318_2319dup (p.Glu774ProfsTer?) c.2315_2316dup (p.Glu773ProfsTer?) c.2273_2274dup (p.Glu759ProfsTer?) c.1346_1347dup (p.Glu450ProfsTer?) | ClinVar |
20 | g.63406937del | CA645608743 | KCNQ2 | c.2385del (p.Glu796ArgfsTer?) c.2331del (p.Glu778ArgfsTer?) c.1728del (p.Glu577ArgfsTer?) c.2238del (p.Glu747ArgfsTer?) c.1899del (p.Glu634ArgfsTer?) c.2247del (p.Glu750ArgfsTer?) c.2241+114del (n.2241+114del) c.2205+114del (n.2205+114del) c.2277del (p.Glu760ArgfsTer?) c.2133+114del (n.2133+114del) c.1680-6089del (n.1680-6089del) c.2373del (p.Glu792ArgfsTer?) c.2439del (p.Glu814ArgfsTer?) c.2436del (p.Glu813ArgfsTer?) c.2409del (p.Glu804ArgfsTer?) c.2355del (p.Glu786ArgfsTer?) c.2328del (p.Glu777ArgfsTer?) c.2313del (p.Glu772ArgfsTer?) c.1920del (p.Glu641ArgfsTer?) c.2382del (p.Glu795ArgfsTer?) c.2319del (p.Glu774ArgfsTer?) c.2316del (p.Glu773ArgfsTer?) c.2274del (p.Glu759ArgfsTer?) c.1347del (p.Glu450ArgfsTer?) | gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63406934G>A | CA315318 | KCNQ2 | c.2383C>T (p.Pro795Ser) c.2329C>T (p.Pro777Ser) c.1726C>T (p.Pro576Ser) c.2236C>T (p.Pro746Ser) c.1897C>T (p.Pro633Ser) c.2245C>T (p.Pro749Ser) c.2241+112C>T (n.2241+112C>T) c.2205+112C>T (n.2205+112C>T) c.2275C>T (p.Pro759Ser) c.2133+112C>T (n.2133+112C>T) c.1680-6091C>T (n.1680-6091C>T) c.2371C>T (p.Pro791Ser) c.2437C>T (p.Pro813Ser) c.2434C>T (p.Pro812Ser) c.2407C>T (p.Pro803Ser) c.2353C>T (p.Pro785Ser) c.2326C>T (p.Pro776Ser) c.2311C>T (p.Pro771Ser) c.1918C>T (p.Pro640Ser) c.2380C>T (p.Pro794Ser) c.2317C>T (p.Pro773Ser) c.2314C>T (p.Pro772Ser) c.2272C>T (p.Pro758Ser) c.1345C>T (p.Pro449Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406934G>C | CA409637731 | KCNQ2 | c.2383C>G (p.Pro795Ala) c.2329C>G (p.Pro777Ala) c.1726C>G (p.Pro576Ala) c.2236C>G (p.Pro746Ala) c.1897C>G (p.Pro633Ala) c.2245C>G (p.Pro749Ala) c.2241+112C>G (n.2241+112C>G) c.2205+112C>G (n.2205+112C>G) c.2275C>G (p.Pro759Ala) c.2133+112C>G (n.2133+112C>G) c.1680-6091C>G (n.1680-6091C>G) c.2371C>G (p.Pro791Ala) c.2437C>G (p.Pro813Ala) c.2434C>G (p.Pro812Ala) c.2407C>G (p.Pro803Ala) c.2353C>G (p.Pro785Ala) c.2326C>G (p.Pro776Ala) c.2311C>G (p.Pro771Ala) c.1918C>G (p.Pro640Ala) c.2380C>G (p.Pro794Ala) c.2317C>G (p.Pro773Ala) c.2314C>G (p.Pro772Ala) c.2272C>G (p.Pro758Ala) c.1345C>G (p.Pro449Ala) | |
20 | g.63406934G= | CA2374774316 | KCNQ2 | c.2383C= (p.Pro795=) c.2329C= (p.Pro777=) c.1726C= (p.Pro576=) c.2236C= (p.Pro746=) c.1897C= (p.Pro633=) c.2245C= (p.Pro749=) c.2241+112C= (n.2241+112C=) c.2205+112C= (n.2205+112C=) c.2275C= (p.Pro759=) c.2133+112C= (n.2133+112C=) c.1680-6091C= (n.1680-6091C=) c.2371C= (p.Pro791=) c.2437C= (p.Pro813=) c.2434C= (p.Pro812=) c.2407C= (p.Pro803=) c.2353C= (p.Pro785=) c.2326C= (p.Pro776=) c.2311C= (p.Pro771=) c.1918C= (p.Pro640=) c.2380C= (p.Pro794=) c.2317C= (p.Pro773=) c.2314C= (p.Pro772=) c.2272C= (p.Pro758=) c.1345C= (p.Pro449=) | |
20 | g.63406934G>T | CA409637734 | KCNQ2 | c.2383C>A (p.Pro795Thr) c.2329C>A (p.Pro777Thr) c.1726C>A (p.Pro576Thr) c.2236C>A (p.Pro746Thr) c.1897C>A (p.Pro633Thr) c.2245C>A (p.Pro749Thr) c.2241+112C>A (n.2241+112C>A) c.2205+112C>A (n.2205+112C>A) c.2275C>A (p.Pro759Thr) c.2133+112C>A (n.2133+112C>A) c.1680-6091C>A (n.1680-6091C>A) c.2371C>A (p.Pro791Thr) c.2437C>A (p.Pro813Thr) c.2434C>A (p.Pro812Thr) c.2407C>A (p.Pro803Thr) c.2353C>A (p.Pro785Thr) c.2326C>A (p.Pro776Thr) c.2311C>A (p.Pro771Thr) c.1918C>A (p.Pro640Thr) c.2380C>A (p.Pro794Thr) c.2317C>A (p.Pro773Thr) c.2314C>A (p.Pro772Thr) c.2272C>A (p.Pro758Thr) c.1345C>A (p.Pro449Thr) | |
20 | g.63406935G>A | CA511339300 | KCNQ2 | c.2382C>T (p.Pro794=) c.2328C>T (p.Pro776=) c.1725C>T (p.Pro575=) c.2235C>T (p.Pro745=) c.1896C>T (p.Pro632=) c.2244C>T (p.Pro748=) c.2241+111C>T (n.2241+111C>T) c.2205+111C>T (n.2205+111C>T) c.2274C>T (p.Pro758=) c.2133+111C>T (n.2133+111C>T) c.1680-6092C>T (n.1680-6092C>T) c.2370C>T (p.Pro790=) c.2436C>T (p.Pro812=) c.2433C>T (p.Pro811=) c.2406C>T (p.Pro802=) c.2352C>T (p.Pro784=) c.2325C>T (p.Pro775=) c.2310C>T (p.Pro770=) c.1917C>T (p.Pro639=) c.2379C>T (p.Pro793=) c.2316C>T (p.Pro772=) c.2313C>T (p.Pro771=) c.2271C>T (p.Pro757=) c.1344C>T (p.Pro448=) | ClinVar dbSNP gnomAD v4 |
20 | g.63406935G>C | CA511339301 | KCNQ2 | c.2382C>G (p.Pro794=) c.2328C>G (p.Pro776=) c.1725C>G (p.Pro575=) c.2235C>G (p.Pro745=) c.1896C>G (p.Pro632=) c.2244C>G (p.Pro748=) c.2241+111C>G (n.2241+111C>G) c.2205+111C>G (n.2205+111C>G) c.2274C>G (p.Pro758=) c.2133+111C>G (n.2133+111C>G) c.1680-6092C>G (n.1680-6092C>G) c.2370C>G (p.Pro790=) c.2436C>G (p.Pro812=) c.2433C>G (p.Pro811=) c.2406C>G (p.Pro802=) c.2352C>G (p.Pro784=) c.2325C>G (p.Pro775=) c.2310C>G (p.Pro770=) c.1917C>G (p.Pro639=) c.2379C>G (p.Pro793=) c.2316C>G (p.Pro772=) c.2313C>G (p.Pro771=) c.2271C>G (p.Pro757=) c.1344C>G (p.Pro448=) | |
20 | g.63406935G= | CA2374774317 | KCNQ2 | c.2382C= (p.Pro794=) c.2328C= (p.Pro776=) c.1725C= (p.Pro575=) c.2235C= (p.Pro745=) c.1896C= (p.Pro632=) c.2244C= (p.Pro748=) c.2241+111C= (n.2241+111C=) c.2205+111C= (n.2205+111C=) c.2274C= (p.Pro758=) c.2133+111C= (n.2133+111C=) c.1680-6092C= (n.1680-6092C=) c.2370C= (p.Pro790=) c.2436C= (p.Pro812=) c.2433C= (p.Pro811=) c.2406C= (p.Pro802=) c.2352C= (p.Pro784=) c.2325C= (p.Pro775=) c.2310C= (p.Pro770=) c.1917C= (p.Pro639=) c.2379C= (p.Pro793=) c.2316C= (p.Pro772=) c.2313C= (p.Pro771=) c.2271C= (p.Pro757=) c.1344C= (p.Pro448=) | |
20 | g.63406935G>T | CA511339302 | KCNQ2 | c.2382C>A (p.Pro794=) c.2328C>A (p.Pro776=) c.1725C>A (p.Pro575=) c.2235C>A (p.Pro745=) c.1896C>A (p.Pro632=) c.2244C>A (p.Pro748=) c.2241+111C>A (n.2241+111C>A) c.2205+111C>A (n.2205+111C>A) c.2274C>A (p.Pro758=) c.2133+111C>A (n.2133+111C>A) c.1680-6092C>A (n.1680-6092C>A) c.2370C>A (p.Pro790=) c.2436C>A (p.Pro812=) c.2433C>A (p.Pro811=) c.2406C>A (p.Pro802=) c.2352C>A (p.Pro784=) c.2325C>A (p.Pro775=) c.2310C>A (p.Pro770=) c.1917C>A (p.Pro639=) c.2379C>A (p.Pro793=) c.2316C>A (p.Pro772=) c.2313C>A (p.Pro771=) c.2271C>A (p.Pro757=) c.1344C>A (p.Pro448=) | gnomAD v4 |
20 | g.63406935_63406937delinsGGG | CA2374774318 | KCNQ2 | c.2380_2382delinsCCC (p.Pro794=) c.2326_2328delinsCCC (p.Pro776=) c.1723_1725delinsCCC (p.Pro575=) c.2233_2235delinsCCC (p.Pro745=) c.1894_1896delinsCCC (p.Pro632=) c.2242_2244delinsCCC (p.Pro748=) c.2241+109_2241+111delinsCCC (n.2241+109_2241+111delinsCCC) c.2205+109_2205+111delinsCCC (n.2205+109_2205+111delinsCCC) c.2272_2274delinsCCC (p.Pro758=) c.2133+109_2133+111delinsCCC (n.2133+109_2133+111delinsCCC) c.1680-6094_1680-6092delinsCCC (n.1680-6094_1680-6092delinsCCC) c.2368_2370delinsCCC (p.Pro790=) c.2434_2436delinsCCC (p.Pro812=) c.2431_2433delinsCCC (p.Pro811=) c.2404_2406delinsCCC (p.Pro802=) c.2350_2352delinsCCC (p.Pro784=) c.2323_2325delinsCCC (p.Pro775=) c.2308_2310delinsCCC (p.Pro770=) c.1915_1917delinsCCC (p.Pro639=) c.2377_2379delinsCCC (p.Pro793=) c.2314_2316delinsCCC (p.Pro772=) c.2311_2313delinsCCC (p.Pro771=) c.2269_2271delinsCCC (p.Pro757=) c.1342_1344delinsCCC (p.Pro448=) | |
20 | g.63406936G>A | CA409637738 | KCNQ2 | c.2381C>T (p.Pro794Leu) c.2327C>T (p.Pro776Leu) c.1724C>T (p.Pro575Leu) c.2234C>T (p.Pro745Leu) c.1895C>T (p.Pro632Leu) c.2243C>T (p.Pro748Leu) c.2241+110C>T (n.2241+110C>T) c.2205+110C>T (n.2205+110C>T) c.2273C>T (p.Pro758Leu) c.2133+110C>T (n.2133+110C>T) c.1680-6093C>T (n.1680-6093C>T) c.2369C>T (p.Pro790Leu) c.2435C>T (p.Pro812Leu) c.2432C>T (p.Pro811Leu) c.2405C>T (p.Pro802Leu) c.2351C>T (p.Pro784Leu) c.2324C>T (p.Pro775Leu) c.2309C>T (p.Pro770Leu) c.1916C>T (p.Pro639Leu) c.2378C>T (p.Pro793Leu) c.2315C>T (p.Pro772Leu) c.2312C>T (p.Pro771Leu) c.2270C>T (p.Pro757Leu) c.1343C>T (p.Pro448Leu) | |
20 | g.63406936G>C | CA409637743 | KCNQ2 | c.2381C>G (p.Pro794Arg) c.2327C>G (p.Pro776Arg) c.1724C>G (p.Pro575Arg) c.2234C>G (p.Pro745Arg) c.1895C>G (p.Pro632Arg) c.2243C>G (p.Pro748Arg) c.2241+110C>G (n.2241+110C>G) c.2205+110C>G (n.2205+110C>G) c.2273C>G (p.Pro758Arg) c.2133+110C>G (n.2133+110C>G) c.1680-6093C>G (n.1680-6093C>G) c.2369C>G (p.Pro790Arg) c.2435C>G (p.Pro812Arg) c.2432C>G (p.Pro811Arg) c.2405C>G (p.Pro802Arg) c.2351C>G (p.Pro784Arg) c.2324C>G (p.Pro775Arg) c.2309C>G (p.Pro770Arg) c.1916C>G (p.Pro639Arg) c.2378C>G (p.Pro793Arg) c.2315C>G (p.Pro772Arg) c.2312C>G (p.Pro771Arg) c.2270C>G (p.Pro757Arg) c.1343C>G (p.Pro448Arg) | |
20 | g.63406936G= | CA2374774319 | KCNQ2 | c.2381C= (p.Pro794=) c.2327C= (p.Pro776=) c.1724C= (p.Pro575=) c.2234C= (p.Pro745=) c.1895C= (p.Pro632=) c.2243C= (p.Pro748=) c.2241+110C= (n.2241+110C=) c.2205+110C= (n.2205+110C=) c.2273C= (p.Pro758=) c.2133+110C= (n.2133+110C=) c.1680-6093C= (n.1680-6093C=) c.2369C= (p.Pro790=) c.2435C= (p.Pro812=) c.2432C= (p.Pro811=) c.2405C= (p.Pro802=) c.2351C= (p.Pro784=) c.2324C= (p.Pro775=) c.2309C= (p.Pro770=) c.1916C= (p.Pro639=) c.2378C= (p.Pro793=) c.2315C= (p.Pro772=) c.2312C= (p.Pro771=) c.2270C= (p.Pro757=) c.1343C= (p.Pro448=) | |
20 | g.63406936G>T | CA9958098 | KCNQ2 | c.2381C>A (p.Pro794His) c.2327C>A (p.Pro776His) c.1724C>A (p.Pro575His) c.2234C>A (p.Pro745His) c.1895C>A (p.Pro632His) c.2243C>A (p.Pro748His) c.2241+110C>A (n.2241+110C>A) c.2205+110C>A (n.2205+110C>A) c.2273C>A (p.Pro758His) c.2133+110C>A (n.2133+110C>A) c.1680-6093C>A (n.1680-6093C>A) c.2369C>A (p.Pro790His) c.2435C>A (p.Pro812His) c.2432C>A (p.Pro811His) c.2405C>A (p.Pro802His) c.2351C>A (p.Pro784His) c.2324C>A (p.Pro775His) c.2309C>A (p.Pro770His) c.1916C>A (p.Pro639His) c.2378C>A (p.Pro793His) c.2315C>A (p.Pro772His) c.2312C>A (p.Pro771His) c.2270C>A (p.Pro757His) c.1343C>A (p.Pro448His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406936_63406937delinsT | CA915952957 | KCNQ2 | c.2380_2381delinsA (p.Pro794ThrfsTer?) c.2326_2327delinsA (p.Pro776ThrfsTer?) c.1723_1724delinsA (p.Pro575ThrfsTer?) c.2233_2234delinsA (p.Pro745ThrfsTer?) c.1894_1895delinsA (p.Pro632ThrfsTer?) c.2242_2243delinsA (p.Pro748ThrfsTer?) c.2241+109_2241+110delinsA (n.2241+109_2241+110delinsA) c.2205+109_2205+110delinsA (n.2205+109_2205+110delinsA) c.2272_2273delinsA (p.Pro758ThrfsTer?) c.2133+109_2133+110delinsA (n.2133+109_2133+110delinsA) c.1680-6094_1680-6093delinsA (n.1680-6094_1680-6093delinsA) c.2368_2369delinsA (p.Pro790ThrfsTer?) c.2434_2435delinsA (p.Pro812ThrfsTer?) c.2431_2432delinsA (p.Pro811ThrfsTer?) c.2404_2405delinsA (p.Pro802ThrfsTer?) c.2350_2351delinsA (p.Pro784ThrfsTer?) c.2323_2324delinsA (p.Pro775ThrfsTer?) c.2308_2309delinsA (p.Pro770ThrfsTer?) c.1915_1916delinsA (p.Pro639ThrfsTer?) c.2377_2378delinsA (p.Pro793ThrfsTer?) c.2314_2315delinsA (p.Pro772ThrfsTer?) c.2311_2312delinsA (p.Pro771ThrfsTer?) c.2269_2270delinsA (p.Pro757ThrfsTer?) c.1342_1343delinsA (p.Pro448ThrfsTer?) | ClinVar dbSNP |
20 | g.63406937G>A | CA409637745 | KCNQ2 | c.2380C>T (p.Pro794Ser) c.2326C>T (p.Pro776Ser) c.1723C>T (p.Pro575Ser) c.2233C>T (p.Pro745Ser) c.1894C>T (p.Pro632Ser) c.2242C>T (p.Pro748Ser) c.2241+109C>T (n.2241+109C>T) c.2205+109C>T (n.2205+109C>T) c.2272C>T (p.Pro758Ser) c.2133+109C>T (n.2133+109C>T) c.1680-6094C>T (n.1680-6094C>T) c.2368C>T (p.Pro790Ser) c.2434C>T (p.Pro812Ser) c.2431C>T (p.Pro811Ser) c.2404C>T (p.Pro802Ser) c.2350C>T (p.Pro784Ser) c.2323C>T (p.Pro775Ser) c.2308C>T (p.Pro770Ser) c.1915C>T (p.Pro639Ser) c.2377C>T (p.Pro793Ser) c.2314C>T (p.Pro772Ser) c.2311C>T (p.Pro771Ser) c.2269C>T (p.Pro757Ser) c.1342C>T (p.Pro448Ser) | ClinVar gnomAD v4 |
20 | g.63406937G>C | CA409637748 | KCNQ2 | c.2380C>G (p.Pro794Ala) c.2326C>G (p.Pro776Ala) c.1723C>G (p.Pro575Ala) c.2233C>G (p.Pro745Ala) c.1894C>G (p.Pro632Ala) c.2242C>G (p.Pro748Ala) c.2241+109C>G (n.2241+109C>G) c.2205+109C>G (n.2205+109C>G) c.2272C>G (p.Pro758Ala) c.2133+109C>G (n.2133+109C>G) c.1680-6094C>G (n.1680-6094C>G) c.2368C>G (p.Pro790Ala) c.2434C>G (p.Pro812Ala) c.2431C>G (p.Pro811Ala) c.2404C>G (p.Pro802Ala) c.2350C>G (p.Pro784Ala) c.2323C>G (p.Pro775Ala) c.2308C>G (p.Pro770Ala) c.1915C>G (p.Pro639Ala) c.2377C>G (p.Pro793Ala) c.2314C>G (p.Pro772Ala) c.2311C>G (p.Pro771Ala) c.2269C>G (p.Pro757Ala) c.1342C>G (p.Pro448Ala) | |
20 | g.63406937G>T | CA409637749 | KCNQ2 | c.2380C>A (p.Pro794Thr) c.2326C>A (p.Pro776Thr) c.1723C>A (p.Pro575Thr) c.2233C>A (p.Pro745Thr) c.1894C>A (p.Pro632Thr) c.2242C>A (p.Pro748Thr) c.2241+109C>A (n.2241+109C>A) c.2205+109C>A (n.2205+109C>A) c.2272C>A (p.Pro758Thr) c.2133+109C>A (n.2133+109C>A) c.1680-6094C>A (n.1680-6094C>A) c.2368C>A (p.Pro790Thr) c.2434C>A (p.Pro812Thr) c.2431C>A (p.Pro811Thr) c.2404C>A (p.Pro802Thr) c.2350C>A (p.Pro784Thr) c.2323C>A (p.Pro775Thr) c.2308C>A (p.Pro770Thr) c.1915C>A (p.Pro639Thr) c.2377C>A (p.Pro793Thr) c.2314C>A (p.Pro772Thr) c.2311C>A (p.Pro771Thr) c.2269C>A (p.Pro757Thr) c.1342C>A (p.Pro448Thr) | gnomAD v4 |
20 | g.63406937_63406938insAC | CA2842871703 | KCNQ2 | c.2379_2380insGT (p.Pro794ValfsTer?) c.2325_2326insGT (p.Pro776ValfsTer?) c.1722_1723insGT (p.Pro575ValfsTer?) c.2232_2233insGT (p.Pro745ValfsTer?) c.1893_1894insGT (p.Pro632ValfsTer?) c.2241_2242insGT (p.Pro748ValfsTer?) c.2241+108_2241+109insGT (n.2241+108_2241+109insGT) c.2205+108_2205+109insGT (n.2205+108_2205+109insGT) c.2271_2272insGT (p.Pro758ValfsTer?) c.2133+108_2133+109insGT (n.2133+108_2133+109insGT) c.1680-6095_1680-6094insGT (n.1680-6095_1680-6094insGT) c.2367_2368insGT (p.Pro790ValfsTer?) c.2433_2434insGT (p.Pro812ValfsTer?) c.2430_2431insGT (p.Pro811ValfsTer?) c.2403_2404insGT (p.Pro802ValfsTer?) c.2349_2350insGT (p.Pro784ValfsTer?) c.2322_2323insGT (p.Pro775ValfsTer?) c.2307_2308insGT (p.Pro770ValfsTer?) c.1914_1915insGT (p.Pro639ValfsTer?) c.2376_2377insGT (p.Pro793ValfsTer?) c.2313_2314insGT (p.Pro772ValfsTer?) c.2310_2311insGT (p.Pro771ValfsTer?) c.2268_2269insGT (p.Pro757ValfsTer?) c.1341_1342insGT (p.Pro448ValfsTer?) | |
20 | g.63406938C>A | CA409637753 | KCNQ2 | c.2379G>T (p.Arg793Ser) c.2325G>T (p.Arg775Ser) c.1722G>T (p.Arg574Ser) c.2232G>T (p.Arg744Ser) c.1893G>T (p.Arg631Ser) c.2241G>T (p.Arg747Ser) c.2241+108G>T (n.2241+108G>T) c.2205+108G>T (n.2205+108G>T) c.2271G>T (p.Arg757Ser) c.2133+108G>T (n.2133+108G>T) c.1680-6095G>T (n.1680-6095G>T) c.2367G>T (p.Arg789Ser) c.2433G>T (p.Arg811Ser) c.2430G>T (p.Arg810Ser) c.2403G>T (p.Arg801Ser) c.2349G>T (p.Arg783Ser) c.2322G>T (p.Arg774Ser) c.2307G>T (p.Arg769Ser) c.1914G>T (p.Arg638Ser) c.2376G>T (p.Arg792Ser) c.2313G>T (p.Arg771Ser) c.2310G>T (p.Arg770Ser) c.2268G>T (p.Arg756Ser) c.1341G>T (p.Arg447Ser) | gnomAD v4 |
20 | g.63406938C= | CA2374774320 | KCNQ2 | c.2379G= (p.Arg793=) c.2325G= (p.Arg775=) c.1722G= (p.Arg574=) c.2232G= (p.Arg744=) c.1893G= (p.Arg631=) c.2241G= (p.Arg747=) c.2241+108G= (n.2241+108G=) c.2205+108G= (n.2205+108G=) c.2271G= (p.Arg757=) c.2133+108G= (n.2133+108G=) c.1680-6095G= (n.1680-6095G=) c.2367G= (p.Arg789=) c.2433G= (p.Arg811=) c.2430G= (p.Arg810=) c.2403G= (p.Arg801=) c.2349G= (p.Arg783=) c.2322G= (p.Arg774=) c.2307G= (p.Arg769=) c.1914G= (p.Arg638=) c.2376G= (p.Arg792=) c.2313G= (p.Arg771=) c.2310G= (p.Arg770=) c.2268G= (p.Arg756=) c.1341G= (p.Arg447=) | |
20 | g.63406938C>G | CA409637754 | KCNQ2 | c.2379G>C (p.Arg793Ser) c.2325G>C (p.Arg775Ser) c.1722G>C (p.Arg574Ser) c.2232G>C (p.Arg744Ser) c.1893G>C (p.Arg631Ser) c.2241G>C (p.Arg747Ser) c.2241+108G>C (n.2241+108G>C) c.2205+108G>C (n.2205+108G>C) c.2271G>C (p.Arg757Ser) c.2133+108G>C (n.2133+108G>C) c.1680-6095G>C (n.1680-6095G>C) c.2367G>C (p.Arg789Ser) c.2433G>C (p.Arg811Ser) c.2430G>C (p.Arg810Ser) c.2403G>C (p.Arg801Ser) c.2349G>C (p.Arg783Ser) c.2322G>C (p.Arg774Ser) c.2307G>C (p.Arg769Ser) c.1914G>C (p.Arg638Ser) c.2376G>C (p.Arg792Ser) c.2313G>C (p.Arg771Ser) c.2310G>C (p.Arg770Ser) c.2268G>C (p.Arg756Ser) c.1341G>C (p.Arg447Ser) | |
20 | g.63406938C>T | CA511339309 | KCNQ2 | c.2379G>A (p.Arg793=) c.2325G>A (p.Arg775=) c.1722G>A (p.Arg574=) c.2232G>A (p.Arg744=) c.1893G>A (p.Arg631=) c.2241G>A (p.Arg747=) c.2241+108G>A (n.2241+108G>A) c.2205+108G>A (n.2205+108G>A) c.2271G>A (p.Arg757=) c.2133+108G>A (n.2133+108G>A) c.1680-6095G>A (n.1680-6095G>A) c.2367G>A (p.Arg789=) c.2433G>A (p.Arg811=) c.2430G>A (p.Arg810=) c.2403G>A (p.Arg801=) c.2349G>A (p.Arg783=) c.2322G>A (p.Arg774=) c.2307G>A (p.Arg769=) c.1914G>A (p.Arg638=) c.2376G>A (p.Arg792=) c.2313G>A (p.Arg771=) c.2310G>A (p.Arg770=) c.2268G>A (p.Arg756=) c.1341G>A (p.Arg447=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406939C>A | CA409637758 | KCNQ2 | c.2378G>T (p.Arg793Met) c.2324G>T (p.Arg775Met) c.1721G>T (p.Arg574Met) c.2231G>T (p.Arg744Met) c.1892G>T (p.Arg631Met) c.2240G>T (p.Arg747Met) c.2241+107G>T (n.2241+107G>T) c.2205+107G>T (n.2205+107G>T) c.2270G>T (p.Arg757Met) c.2133+107G>T (n.2133+107G>T) c.1680-6096G>T (n.1680-6096G>T) c.2366G>T (p.Arg789Met) c.2432G>T (p.Arg811Met) c.2429G>T (p.Arg810Met) c.2402G>T (p.Arg801Met) c.2348G>T (p.Arg783Met) c.2321G>T (p.Arg774Met) c.2306G>T (p.Arg769Met) c.1913G>T (p.Arg638Met) c.2375G>T (p.Arg792Met) c.2312G>T (p.Arg771Met) c.2309G>T (p.Arg770Met) c.2267G>T (p.Arg756Met) c.1340G>T (p.Arg447Met) | gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63406939C>G | CA409637761 | KCNQ2 | c.2378G>C (p.Arg793Thr) c.2324G>C (p.Arg775Thr) c.1721G>C (p.Arg574Thr) c.2231G>C (p.Arg744Thr) c.1892G>C (p.Arg631Thr) c.2240G>C (p.Arg747Thr) c.2241+107G>C (n.2241+107G>C) c.2205+107G>C (n.2205+107G>C) c.2270G>C (p.Arg757Thr) c.2133+107G>C (n.2133+107G>C) c.1680-6096G>C (n.1680-6096G>C) c.2366G>C (p.Arg789Thr) c.2432G>C (p.Arg811Thr) c.2429G>C (p.Arg810Thr) c.2402G>C (p.Arg801Thr) c.2348G>C (p.Arg783Thr) c.2321G>C (p.Arg774Thr) c.2306G>C (p.Arg769Thr) c.1913G>C (p.Arg638Thr) c.2375G>C (p.Arg792Thr) c.2312G>C (p.Arg771Thr) c.2309G>C (p.Arg770Thr) c.2267G>C (p.Arg756Thr) c.1340G>C (p.Arg447Thr) | |
20 | g.63406939C>T | CA409637763 | KCNQ2 | c.2378G>A (p.Arg793Lys) c.2324G>A (p.Arg775Lys) c.1721G>A (p.Arg574Lys) c.2231G>A (p.Arg744Lys) c.1892G>A (p.Arg631Lys) c.2240G>A (p.Arg747Lys) c.2241+107G>A (n.2241+107G>A) c.2205+107G>A (n.2205+107G>A) c.2270G>A (p.Arg757Lys) c.2133+107G>A (n.2133+107G>A) c.1680-6096G>A (n.1680-6096G>A) c.2366G>A (p.Arg789Lys) c.2432G>A (p.Arg811Lys) c.2429G>A (p.Arg810Lys) c.2402G>A (p.Arg801Lys) c.2348G>A (p.Arg783Lys) c.2321G>A (p.Arg774Lys) c.2306G>A (p.Arg769Lys) c.1913G>A (p.Arg638Lys) c.2375G>A (p.Arg792Lys) c.2312G>A (p.Arg771Lys) c.2309G>A (p.Arg770Lys) c.2267G>A (p.Arg756Lys) c.1340G>A (p.Arg447Lys) | gnomAD v4 |
20 | g.63406940T>A | CA409637767 | KCNQ2 | c.2377A>T (p.Arg793Trp) c.2323A>T (p.Arg775Trp) c.1720A>T (p.Arg574Trp) c.2230A>T (p.Arg744Trp) c.1891A>T (p.Arg631Trp) c.2239A>T (p.Arg747Trp) c.2241+106A>T (n.2241+106A>T) c.2205+106A>T (n.2205+106A>T) c.2269A>T (p.Arg757Trp) c.2133+106A>T (n.2133+106A>T) c.1680-6097A>T (n.1680-6097A>T) c.2365A>T (p.Arg789Trp) c.2431A>T (p.Arg811Trp) c.2428A>T (p.Arg810Trp) c.2401A>T (p.Arg801Trp) c.2347A>T (p.Arg783Trp) c.2320A>T (p.Arg774Trp) c.2305A>T (p.Arg769Trp) c.1912A>T (p.Arg638Trp) c.2374A>T (p.Arg792Trp) c.2311A>T (p.Arg771Trp) c.2308A>T (p.Arg770Trp) c.2266A>T (p.Arg756Trp) c.1339A>T (p.Arg447Trp) | gnomAD v4 |
20 | g.63406940T>C | CA409637769 | KCNQ2 | c.2377A>G (p.Arg793Gly) c.2323A>G (p.Arg775Gly) c.1720A>G (p.Arg574Gly) c.2230A>G (p.Arg744Gly) c.1891A>G (p.Arg631Gly) c.2239A>G (p.Arg747Gly) c.2241+106A>G (n.2241+106A>G) c.2205+106A>G (n.2205+106A>G) c.2269A>G (p.Arg757Gly) c.2133+106A>G (n.2133+106A>G) c.1680-6097A>G (n.1680-6097A>G) c.2365A>G (p.Arg789Gly) c.2431A>G (p.Arg811Gly) c.2428A>G (p.Arg810Gly) c.2401A>G (p.Arg801Gly) c.2347A>G (p.Arg783Gly) c.2320A>G (p.Arg774Gly) c.2305A>G (p.Arg769Gly) c.1912A>G (p.Arg638Gly) c.2374A>G (p.Arg792Gly) c.2311A>G (p.Arg771Gly) c.2308A>G (p.Arg770Gly) c.2266A>G (p.Arg756Gly) c.1339A>G (p.Arg447Gly) | ClinVar gnomAD v4 |
20 | g.63406940T>G | CA511339310 | KCNQ2 | c.2377A>C (p.Arg793=) c.2323A>C (p.Arg775=) c.1720A>C (p.Arg574=) c.2230A>C (p.Arg744=) c.1891A>C (p.Arg631=) c.2239A>C (p.Arg747=) c.2241+106A>C (n.2241+106A>C) c.2205+106A>C (n.2205+106A>C) c.2269A>C (p.Arg757=) c.2133+106A>C (n.2133+106A>C) c.1680-6097A>C (n.1680-6097A>C) c.2365A>C (p.Arg789=) c.2431A>C (p.Arg811=) c.2428A>C (p.Arg810=) c.2401A>C (p.Arg801=) c.2347A>C (p.Arg783=) c.2320A>C (p.Arg774=) c.2305A>C (p.Arg769=) c.1912A>C (p.Arg638=) c.2374A>C (p.Arg792=) c.2311A>C (p.Arg771=) c.2308A>C (p.Arg770=) c.2266A>C (p.Arg756=) c.1339A>C (p.Arg447=) | gnomAD v4 |
20 | g.63406941G>A | CA9958099 | KCNQ2 | c.2376C>T (p.Cys792=) c.2322C>T (p.Cys774=) c.1719C>T (p.Cys573=) c.2229C>T (p.Cys743=) c.1890C>T (p.Cys630=) c.2238C>T (p.Cys746=) c.2241+105C>T (n.2241+105C>T) c.2205+105C>T (n.2205+105C>T) c.2268C>T (p.Cys756=) c.2133+105C>T (n.2133+105C>T) c.1680-6098C>T (n.1680-6098C>T) c.2364C>T (p.Cys788=) c.2430C>T (p.Cys810=) c.2427C>T (p.Cys809=) c.2400C>T (p.Cys800=) c.2346C>T (p.Cys782=) c.2319C>T (p.Cys773=) c.2304C>T (p.Cys768=) c.1911C>T (p.Cys637=) c.2373C>T (p.Cys791=) c.2310C>T (p.Cys770=) c.2307C>T (p.Cys769=) c.2265C>T (p.Cys755=) c.1338C>T (p.Cys446=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406941G>C | CA409637774 | KCNQ2 | c.2376C>G (p.Cys792Trp) c.2322C>G (p.Cys774Trp) c.1719C>G (p.Cys573Trp) c.2229C>G (p.Cys743Trp) c.1890C>G (p.Cys630Trp) c.2238C>G (p.Cys746Trp) c.2241+105C>G (n.2241+105C>G) c.2205+105C>G (n.2205+105C>G) c.2268C>G (p.Cys756Trp) c.2133+105C>G (n.2133+105C>G) c.1680-6098C>G (n.1680-6098C>G) c.2364C>G (p.Cys788Trp) c.2430C>G (p.Cys810Trp) c.2427C>G (p.Cys809Trp) c.2400C>G (p.Cys800Trp) c.2346C>G (p.Cys782Trp) c.2319C>G (p.Cys773Trp) c.2304C>G (p.Cys768Trp) c.1911C>G (p.Cys637Trp) c.2373C>G (p.Cys791Trp) c.2310C>G (p.Cys770Trp) c.2307C>G (p.Cys769Trp) c.2265C>G (p.Cys755Trp) c.1338C>G (p.Cys446Trp) | |
20 | g.63406941G= | CA2374774321 | KCNQ2 | c.2376C= (p.Cys792=) c.2322C= (p.Cys774=) c.1719C= (p.Cys573=) c.2229C= (p.Cys743=) c.1890C= (p.Cys630=) c.2238C= (p.Cys746=) c.2241+105C= (n.2241+105C=) c.2205+105C= (n.2205+105C=) c.2268C= (p.Cys756=) c.2133+105C= (n.2133+105C=) c.1680-6098C= (n.1680-6098C=) c.2364C= (p.Cys788=) c.2430C= (p.Cys810=) c.2427C= (p.Cys809=) c.2400C= (p.Cys800=) c.2346C= (p.Cys782=) c.2319C= (p.Cys773=) c.2304C= (p.Cys768=) c.1911C= (p.Cys637=) c.2373C= (p.Cys791=) c.2310C= (p.Cys770=) c.2307C= (p.Cys769=) c.2265C= (p.Cys755=) c.1338C= (p.Cys446=) | |
20 | g.63406941G>T | CA409637772 | KCNQ2 | c.2376C>A (p.Cys792Ter) c.2322C>A (p.Cys774Ter) c.1719C>A (p.Cys573Ter) c.2229C>A (p.Cys743Ter) c.1890C>A (p.Cys630Ter) c.2238C>A (p.Cys746Ter) c.2241+105C>A (n.2241+105C>A) c.2205+105C>A (n.2205+105C>A) c.2268C>A (p.Cys756Ter) c.2133+105C>A (n.2133+105C>A) c.1680-6098C>A (n.1680-6098C>A) c.2364C>A (p.Cys788Ter) c.2430C>A (p.Cys810Ter) c.2427C>A (p.Cys809Ter) c.2400C>A (p.Cys800Ter) c.2346C>A (p.Cys782Ter) c.2319C>A (p.Cys773Ter) c.2304C>A (p.Cys768Ter) c.1911C>A (p.Cys637Ter) c.2373C>A (p.Cys791Ter) c.2310C>A (p.Cys770Ter) c.2307C>A (p.Cys769Ter) c.2265C>A (p.Cys755Ter) c.1338C>A (p.Cys446Ter) | gnomAD v4 |
20 | g.63406941_63406942delinsAT | CA916083759 | KCNQ2 | c.2375_2376delinsAT (p.Cys792Tyr) c.2321_2322delinsAT (p.Cys774Tyr) c.1718_1719delinsAT (p.Cys573Tyr) c.2228_2229delinsAT (p.Cys743Tyr) c.1889_1890delinsAT (p.Cys630Tyr) c.2237_2238delinsAT (p.Cys746Tyr) c.2241+104_2241+105delinsAT (n.2241+104_2241+105delinsAT) c.2205+104_2205+105delinsAT (n.2205+104_2205+105delinsAT) c.2267_2268delinsAT (p.Cys756Tyr) c.2133+104_2133+105delinsAT (n.2133+104_2133+105delinsAT) c.1680-6099_1680-6098delinsAT (n.1680-6099_1680-6098delinsAT) c.2363_2364delinsAT (p.Cys788Tyr) c.2429_2430delinsAT (p.Cys810Tyr) c.2426_2427delinsAT (p.Cys809Tyr) c.2399_2400delinsAT (p.Cys800Tyr) c.2345_2346delinsAT (p.Cys782Tyr) c.2318_2319delinsAT (p.Cys773Tyr) c.2303_2304delinsAT (p.Cys768Tyr) c.1910_1911delinsAT (p.Cys637Tyr) c.2372_2373delinsAT (p.Cys791Tyr) c.2309_2310delinsAT (p.Cys770Tyr) c.2306_2307delinsAT (p.Cys769Tyr) c.2264_2265delinsAT (p.Cys755Tyr) c.1337_1338delinsAT (p.Cys446Tyr) | ClinVar dbSNP |
20 | g.63406941_63406942delinsGC | CA2374774322 | KCNQ2 | c.2375_2376delinsGC (p.Cys792=) c.2321_2322delinsGC (p.Cys774=) c.1718_1719delinsGC (p.Cys573=) c.2228_2229delinsGC (p.Cys743=) c.1889_1890delinsGC (p.Cys630=) c.2237_2238delinsGC (p.Cys746=) c.2241+104_2241+105delinsGC (n.2241+104_2241+105delinsGC) c.2205+104_2205+105delinsGC (n.2205+104_2205+105delinsGC) c.2267_2268delinsGC (p.Cys756=) c.2133+104_2133+105delinsGC (n.2133+104_2133+105delinsGC) c.1680-6099_1680-6098delinsGC (n.1680-6099_1680-6098delinsGC) c.2363_2364delinsGC (p.Cys788=) c.2429_2430delinsGC (p.Cys810=) c.2426_2427delinsGC (p.Cys809=) c.2399_2400delinsGC (p.Cys800=) c.2345_2346delinsGC (p.Cys782=) c.2318_2319delinsGC (p.Cys773=) c.2303_2304delinsGC (p.Cys768=) c.1910_1911delinsGC (p.Cys637=) c.2372_2373delinsGC (p.Cys791=) c.2309_2310delinsGC (p.Cys770=) c.2306_2307delinsGC (p.Cys769=) c.2264_2265delinsGC (p.Cys755=) c.1337_1338delinsGC (p.Cys446=) | |
20 | g.63406942del | CA2499225800 | KCNQ2 | c.2375del (p.Cys792SerfsTer?) c.2321del (p.Cys774SerfsTer?) c.1718del (p.Cys573SerfsTer?) c.2228del (p.Cys743SerfsTer?) c.1889del (p.Cys630SerfsTer?) c.2237del (p.Cys746SerfsTer?) c.2241+104del (n.2241+104del) c.2205+104del (n.2205+104del) c.2267del (p.Cys756SerfsTer?) c.2133+104del (n.2133+104del) c.1680-6099del (n.1680-6099del) c.2363del (p.Cys788SerfsTer?) c.2429del (p.Cys810SerfsTer?) c.2426del (p.Cys809SerfsTer?) c.2399del (p.Cys800SerfsTer?) c.2345del (p.Cys782SerfsTer?) c.2318del (p.Cys773SerfsTer?) c.2303del (p.Cys768SerfsTer?) c.1910del (p.Cys637SerfsTer?) c.2372del (p.Cys791SerfsTer?) c.2309del (p.Cys770SerfsTer?) c.2306del (p.Cys769SerfsTer?) c.2264del (p.Cys755SerfsTer?) c.1337del (p.Cys446SerfsTer?) | dbSNP |
20 | g.63406942C>A | CA409637781 | KCNQ2 | c.2375G>T (p.Cys792Phe) c.2321G>T (p.Cys774Phe) c.1718G>T (p.Cys573Phe) c.2228G>T (p.Cys743Phe) c.1889G>T (p.Cys630Phe) c.2237G>T (p.Cys746Phe) c.2241+104G>T (n.2241+104G>T) c.2205+104G>T (n.2205+104G>T) c.2267G>T (p.Cys756Phe) c.2133+104G>T (n.2133+104G>T) c.1680-6099G>T (n.1680-6099G>T) c.2363G>T (p.Cys788Phe) c.2429G>T (p.Cys810Phe) c.2426G>T (p.Cys809Phe) c.2399G>T (p.Cys800Phe) c.2345G>T (p.Cys782Phe) c.2318G>T (p.Cys773Phe) c.2303G>T (p.Cys768Phe) c.1910G>T (p.Cys637Phe) c.2372G>T (p.Cys791Phe) c.2309G>T (p.Cys770Phe) c.2306G>T (p.Cys769Phe) c.2264G>T (p.Cys755Phe) c.1337G>T (p.Cys446Phe) | ClinVar dbSNP gnomAD v4 |
20 | g.63406942C= | CA2374774323 | KCNQ2 | c.2375G= (p.Cys792=) c.2321G= (p.Cys774=) c.1718G= (p.Cys573=) c.2228G= (p.Cys743=) c.1889G= (p.Cys630=) c.2237G= (p.Cys746=) c.2241+104G= (n.2241+104G=) c.2205+104G= (n.2205+104G=) c.2267G= (p.Cys756=) c.2133+104G= (n.2133+104G=) c.1680-6099G= (n.1680-6099G=) c.2363G= (p.Cys788=) c.2429G= (p.Cys810=) c.2426G= (p.Cys809=) c.2399G= (p.Cys800=) c.2345G= (p.Cys782=) c.2318G= (p.Cys773=) c.2303G= (p.Cys768=) c.1910G= (p.Cys637=) c.2372G= (p.Cys791=) c.2309G= (p.Cys770=) c.2306G= (p.Cys769=) c.2264G= (p.Cys755=) c.1337G= (p.Cys446=) | |
20 | g.63406942C>G | CA409637786 | KCNQ2 | c.2375G>C (p.Cys792Ser) c.2321G>C (p.Cys774Ser) c.1718G>C (p.Cys573Ser) c.2228G>C (p.Cys743Ser) c.1889G>C (p.Cys630Ser) c.2237G>C (p.Cys746Ser) c.2241+104G>C (n.2241+104G>C) c.2205+104G>C (n.2205+104G>C) c.2267G>C (p.Cys756Ser) c.2133+104G>C (n.2133+104G>C) c.1680-6099G>C (n.1680-6099G>C) c.2363G>C (p.Cys788Ser) c.2429G>C (p.Cys810Ser) c.2426G>C (p.Cys809Ser) c.2399G>C (p.Cys800Ser) c.2345G>C (p.Cys782Ser) c.2318G>C (p.Cys773Ser) c.2303G>C (p.Cys768Ser) c.1910G>C (p.Cys637Ser) c.2372G>C (p.Cys791Ser) c.2309G>C (p.Cys770Ser) c.2306G>C (p.Cys769Ser) c.2264G>C (p.Cys755Ser) c.1337G>C (p.Cys446Ser) | gnomAD v4 |
20 | g.63406942C>T | CA9958100 | KCNQ2 | c.2375G>A (p.Cys792Tyr) c.2321G>A (p.Cys774Tyr) c.1718G>A (p.Cys573Tyr) c.2228G>A (p.Cys743Tyr) c.1889G>A (p.Cys630Tyr) c.2237G>A (p.Cys746Tyr) c.2241+104G>A (n.2241+104G>A) c.2205+104G>A (n.2205+104G>A) c.2267G>A (p.Cys756Tyr) c.2133+104G>A (n.2133+104G>A) c.1680-6099G>A (n.1680-6099G>A) c.2363G>A (p.Cys788Tyr) c.2429G>A (p.Cys810Tyr) c.2426G>A (p.Cys809Tyr) c.2399G>A (p.Cys800Tyr) c.2345G>A (p.Cys782Tyr) c.2318G>A (p.Cys773Tyr) c.2303G>A (p.Cys768Tyr) c.1910G>A (p.Cys637Tyr) c.2372G>A (p.Cys791Tyr) c.2309G>A (p.Cys770Tyr) c.2306G>A (p.Cys769Tyr) c.2264G>A (p.Cys755Tyr) c.1337G>A (p.Cys446Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406943A>C | CA409637790 | KCNQ2 | c.2374T>G (p.Cys792Gly) c.2320T>G (p.Cys774Gly) c.1717T>G (p.Cys573Gly) c.2227T>G (p.Cys743Gly) c.1888T>G (p.Cys630Gly) c.2236T>G (p.Cys746Gly) c.2241+103T>G (n.2241+103T>G) c.2205+103T>G (n.2205+103T>G) c.2266T>G (p.Cys756Gly) c.2133+103T>G (n.2133+103T>G) c.1680-6100T>G (n.1680-6100T>G) c.2362T>G (p.Cys788Gly) c.2428T>G (p.Cys810Gly) c.2425T>G (p.Cys809Gly) c.2398T>G (p.Cys800Gly) c.2344T>G (p.Cys782Gly) c.2317T>G (p.Cys773Gly) c.2302T>G (p.Cys768Gly) c.1909T>G (p.Cys637Gly) c.2371T>G (p.Cys791Gly) c.2308T>G (p.Cys770Gly) c.2305T>G (p.Cys769Gly) c.2263T>G (p.Cys755Gly) c.1336T>G (p.Cys446Gly) | |
20 | g.63406943A>G | CA409637793 | KCNQ2 | c.2374T>C (p.Cys792Arg) c.2320T>C (p.Cys774Arg) c.1717T>C (p.Cys573Arg) c.2227T>C (p.Cys743Arg) c.1888T>C (p.Cys630Arg) c.2236T>C (p.Cys746Arg) c.2241+103T>C (n.2241+103T>C) c.2205+103T>C (n.2205+103T>C) c.2266T>C (p.Cys756Arg) c.2133+103T>C (n.2133+103T>C) c.1680-6100T>C (n.1680-6100T>C) c.2362T>C (p.Cys788Arg) c.2428T>C (p.Cys810Arg) c.2425T>C (p.Cys809Arg) c.2398T>C (p.Cys800Arg) c.2344T>C (p.Cys782Arg) c.2317T>C (p.Cys773Arg) c.2302T>C (p.Cys768Arg) c.1909T>C (p.Cys637Arg) c.2371T>C (p.Cys791Arg) c.2308T>C (p.Cys770Arg) c.2305T>C (p.Cys769Arg) c.2263T>C (p.Cys755Arg) c.1336T>C (p.Cys446Arg) | gnomAD v4 |
20 | g.63406943A>T | CA409637796 | KCNQ2 | c.2374T>A (p.Cys792Ser) c.2320T>A (p.Cys774Ser) c.1717T>A (p.Cys573Ser) c.2227T>A (p.Cys743Ser) c.1888T>A (p.Cys630Ser) c.2236T>A (p.Cys746Ser) c.2241+103T>A (n.2241+103T>A) c.2205+103T>A (n.2205+103T>A) c.2266T>A (p.Cys756Ser) c.2133+103T>A (n.2133+103T>A) c.1680-6100T>A (n.1680-6100T>A) c.2362T>A (p.Cys788Ser) c.2428T>A (p.Cys810Ser) c.2425T>A (p.Cys809Ser) c.2398T>A (p.Cys800Ser) c.2344T>A (p.Cys782Ser) c.2317T>A (p.Cys773Ser) c.2302T>A (p.Cys768Ser) c.1909T>A (p.Cys637Ser) c.2371T>A (p.Cys791Ser) c.2308T>A (p.Cys770Ser) c.2305T>A (p.Cys769Ser) c.2263T>A (p.Cys755Ser) c.1336T>A (p.Cys446Ser) | gnomAD v4 |
20 | g.63406944G>A | CA511339315 | KCNQ2 | c.2373C>T (p.Gly791=) c.2319C>T (p.Gly773=) c.1716C>T (p.Gly572=) c.2226C>T (p.Gly742=) c.1887C>T (p.Gly629=) c.2235C>T (p.Gly745=) c.2241+102C>T (n.2241+102C>T) c.2205+102C>T (n.2205+102C>T) c.2265C>T (p.Gly755=) c.2133+102C>T (n.2133+102C>T) c.1680-6101C>T (n.1680-6101C>T) c.2361C>T (p.Gly787=) c.2427C>T (p.Gly809=) c.2424C>T (p.Gly808=) c.2397C>T (p.Gly799=) c.2343C>T (p.Gly781=) c.2316C>T (p.Gly772=) c.2301C>T (p.Gly767=) c.1908C>T (p.Gly636=) c.2370C>T (p.Gly790=) c.2307C>T (p.Gly769=) c.2304C>T (p.Gly768=) c.2262C>T (p.Gly754=) c.1335C>T (p.Gly445=) | |
20 | g.63406944G>C | CA511339316 | KCNQ2 | c.2373C>G (p.Gly791=) c.2319C>G (p.Gly773=) c.1716C>G (p.Gly572=) c.2226C>G (p.Gly742=) c.1887C>G (p.Gly629=) c.2235C>G (p.Gly745=) c.2241+102C>G (n.2241+102C>G) c.2205+102C>G (n.2205+102C>G) c.2265C>G (p.Gly755=) c.2133+102C>G (n.2133+102C>G) c.1680-6101C>G (n.1680-6101C>G) c.2361C>G (p.Gly787=) c.2427C>G (p.Gly809=) c.2424C>G (p.Gly808=) c.2397C>G (p.Gly799=) c.2343C>G (p.Gly781=) c.2316C>G (p.Gly772=) c.2301C>G (p.Gly767=) c.1908C>G (p.Gly636=) c.2370C>G (p.Gly790=) c.2307C>G (p.Gly769=) c.2304C>G (p.Gly768=) c.2262C>G (p.Gly754=) c.1335C>G (p.Gly445=) | |
20 | g.63406944G= | CA2374774324 | KCNQ2 | c.2373C= (p.Gly791=) c.2319C= (p.Gly773=) c.1716C= (p.Gly572=) c.2226C= (p.Gly742=) c.1887C= (p.Gly629=) c.2235C= (p.Gly745=) c.2241+102C= (n.2241+102C=) c.2205+102C= (n.2205+102C=) c.2265C= (p.Gly755=) c.2133+102C= (n.2133+102C=) c.1680-6101C= (n.1680-6101C=) c.2361C= (p.Gly787=) c.2427C= (p.Gly809=) c.2424C= (p.Gly808=) c.2397C= (p.Gly799=) c.2343C= (p.Gly781=) c.2316C= (p.Gly772=) c.2301C= (p.Gly767=) c.1908C= (p.Gly636=) c.2370C= (p.Gly790=) c.2307C= (p.Gly769=) c.2304C= (p.Gly768=) c.2262C= (p.Gly754=) c.1335C= (p.Gly445=) | |
20 | g.63406944G>T | CA511339317 | KCNQ2 | c.2373C>A (p.Gly791=) c.2319C>A (p.Gly773=) c.1716C>A (p.Gly572=) c.2226C>A (p.Gly742=) c.1887C>A (p.Gly629=) c.2235C>A (p.Gly745=) c.2241+102C>A (n.2241+102C>A) c.2205+102C>A (n.2205+102C>A) c.2265C>A (p.Gly755=) c.2133+102C>A (n.2133+102C>A) c.1680-6101C>A (n.1680-6101C>A) c.2361C>A (p.Gly787=) c.2427C>A (p.Gly809=) c.2424C>A (p.Gly808=) c.2397C>A (p.Gly799=) c.2343C>A (p.Gly781=) c.2316C>A (p.Gly772=) c.2301C>A (p.Gly767=) c.1908C>A (p.Gly636=) c.2370C>A (p.Gly790=) c.2307C>A (p.Gly769=) c.2304C>A (p.Gly768=) c.2262C>A (p.Gly754=) c.1335C>A (p.Gly445=) | gnomAD v4 |
20 | g.63406945C>A | CA409637800 | KCNQ2 | c.2372G>T (p.Gly791Val) c.2318G>T (p.Gly773Val) c.1715G>T (p.Gly572Val) c.2225G>T (p.Gly742Val) c.1886G>T (p.Gly629Val) c.2234G>T (p.Gly745Val) c.2241+101G>T (n.2241+101G>T) c.2205+101G>T (n.2205+101G>T) c.2264G>T (p.Gly755Val) c.2133+101G>T (n.2133+101G>T) c.1680-6102G>T (n.1680-6102G>T) c.2360G>T (p.Gly787Val) c.2426G>T (p.Gly809Val) c.2423G>T (p.Gly808Val) c.2396G>T (p.Gly799Val) c.2342G>T (p.Gly781Val) c.2315G>T (p.Gly772Val) c.2300G>T (p.Gly767Val) c.1907G>T (p.Gly636Val) c.2369G>T (p.Gly790Val) c.2306G>T (p.Gly769Val) c.2303G>T (p.Gly768Val) c.2261G>T (p.Gly754Val) c.1334G>T (p.Gly445Val) | gnomAD v4 |
20 | g.63406945C>G | CA409637801 | KCNQ2 | c.2372G>C (p.Gly791Ala) c.2318G>C (p.Gly773Ala) c.1715G>C (p.Gly572Ala) c.2225G>C (p.Gly742Ala) c.1886G>C (p.Gly629Ala) c.2234G>C (p.Gly745Ala) c.2241+101G>C (n.2241+101G>C) c.2205+101G>C (n.2205+101G>C) c.2264G>C (p.Gly755Ala) c.2133+101G>C (n.2133+101G>C) c.1680-6102G>C (n.1680-6102G>C) c.2360G>C (p.Gly787Ala) c.2426G>C (p.Gly809Ala) c.2423G>C (p.Gly808Ala) c.2396G>C (p.Gly799Ala) c.2342G>C (p.Gly781Ala) c.2315G>C (p.Gly772Ala) c.2300G>C (p.Gly767Ala) c.1907G>C (p.Gly636Ala) c.2369G>C (p.Gly790Ala) c.2306G>C (p.Gly769Ala) c.2303G>C (p.Gly768Ala) c.2261G>C (p.Gly754Ala) c.1334G>C (p.Gly445Ala) | gnomAD v4 |
20 | g.63406945C>T | CA409637803 | KCNQ2 | c.2372G>A (p.Gly791Asp) c.2318G>A (p.Gly773Asp) c.1715G>A (p.Gly572Asp) c.2225G>A (p.Gly742Asp) c.1886G>A (p.Gly629Asp) c.2234G>A (p.Gly745Asp) c.2241+101G>A (n.2241+101G>A) c.2205+101G>A (n.2205+101G>A) c.2264G>A (p.Gly755Asp) c.2133+101G>A (n.2133+101G>A) c.1680-6102G>A (n.1680-6102G>A) c.2360G>A (p.Gly787Asp) c.2426G>A (p.Gly809Asp) c.2423G>A (p.Gly808Asp) c.2396G>A (p.Gly799Asp) c.2342G>A (p.Gly781Asp) c.2315G>A (p.Gly772Asp) c.2300G>A (p.Gly767Asp) c.1907G>A (p.Gly636Asp) c.2369G>A (p.Gly790Asp) c.2306G>A (p.Gly769Asp) c.2303G>A (p.Gly768Asp) c.2261G>A (p.Gly754Asp) c.1334G>A (p.Gly445Asp) | gnomAD v4 |
20 | g.63406947dup | CA16609700 | KCNQ2 | c.2372dup (p.Cys792LeufsTer?) c.2318dup (p.Cys774LeufsTer?) c.1715dup (p.Cys573LeufsTer?) c.2225dup (p.Cys743LeufsTer?) c.1886dup (p.Cys630LeufsTer?) c.2234dup (p.Cys746LeufsTer?) c.2241+101dup (n.2241+101dup) c.2205+101dup (n.2205+101dup) c.2264dup (p.Cys756LeufsTer?) c.2133+101dup (n.2133+101dup) c.1680-6102dup (n.1680-6102dup) c.2360dup (p.Cys788LeufsTer?) c.2426dup (p.Cys810LeufsTer?) c.2423dup (p.Cys809LeufsTer?) c.2396dup (p.Cys800LeufsTer?) c.2342dup (p.Cys782LeufsTer?) c.2315dup (p.Cys773LeufsTer?) c.2300dup (p.Cys768LeufsTer?) c.1907dup (p.Cys637LeufsTer?) c.2369dup (p.Cys791LeufsTer?) c.2306dup (p.Cys770LeufsTer?) c.2303dup (p.Cys769LeufsTer?) c.2261dup (p.Cys755LeufsTer?) c.1334dup (p.Cys446LeufsTer?) | ClinVar dbSNP |
20 | g.63406946C>A | CA409637807 | KCNQ2 | c.2371G>T (p.Gly791Cys) c.2317G>T (p.Gly773Cys) c.1714G>T (p.Gly572Cys) c.2224G>T (p.Gly742Cys) c.1885G>T (p.Gly629Cys) c.2233G>T (p.Gly745Cys) c.2241+100G>T (n.2241+100G>T) c.2205+100G>T (n.2205+100G>T) c.2263G>T (p.Gly755Cys) c.2133+100G>T (n.2133+100G>T) c.1680-6103G>T (n.1680-6103G>T) c.2359G>T (p.Gly787Cys) c.2425G>T (p.Gly809Cys) c.2422G>T (p.Gly808Cys) c.2395G>T (p.Gly799Cys) c.2341G>T (p.Gly781Cys) c.2314G>T (p.Gly772Cys) c.2299G>T (p.Gly767Cys) c.1906G>T (p.Gly636Cys) c.2368G>T (p.Gly790Cys) c.2305G>T (p.Gly769Cys) c.2302G>T (p.Gly768Cys) c.2260G>T (p.Gly754Cys) c.1333G>T (p.Gly445Cys) | gnomAD v4 |
20 | g.63406946C= | CA2374774325 | KCNQ2 | c.2371G= (p.Gly791=) c.2317G= (p.Gly773=) c.1714G= (p.Gly572=) c.2224G= (p.Gly742=) c.1885G= (p.Gly629=) c.2233G= (p.Gly745=) c.2241+100G= (n.2241+100G=) c.2205+100G= (n.2205+100G=) c.2263G= (p.Gly755=) c.2133+100G= (n.2133+100G=) c.1680-6103G= (n.1680-6103G=) c.2359G= (p.Gly787=) c.2425G= (p.Gly809=) c.2422G= (p.Gly808=) c.2395G= (p.Gly799=) c.2341G= (p.Gly781=) c.2314G= (p.Gly772=) c.2299G= (p.Gly767=) c.1906G= (p.Gly636=) c.2368G= (p.Gly790=) c.2305G= (p.Gly769=) c.2302G= (p.Gly768=) c.2260G= (p.Gly754=) c.1333G= (p.Gly445=) | |
20 | g.63406946C>G | CA409637810 | KCNQ2 | c.2371G>C (p.Gly791Arg) c.2317G>C (p.Gly773Arg) c.1714G>C (p.Gly572Arg) c.2224G>C (p.Gly742Arg) c.1885G>C (p.Gly629Arg) c.2233G>C (p.Gly745Arg) c.2241+100G>C (n.2241+100G>C) c.2205+100G>C (n.2205+100G>C) c.2263G>C (p.Gly755Arg) c.2133+100G>C (n.2133+100G>C) c.1680-6103G>C (n.1680-6103G>C) c.2359G>C (p.Gly787Arg) c.2425G>C (p.Gly809Arg) c.2422G>C (p.Gly808Arg) c.2395G>C (p.Gly799Arg) c.2341G>C (p.Gly781Arg) c.2314G>C (p.Gly772Arg) c.2299G>C (p.Gly767Arg) c.1906G>C (p.Gly636Arg) c.2368G>C (p.Gly790Arg) c.2305G>C (p.Gly769Arg) c.2302G>C (p.Gly768Arg) c.2260G>C (p.Gly754Arg) c.1333G>C (p.Gly445Arg) | |
20 | g.63406946C>T | CA409637813 | KCNQ2 | c.2371G>A (p.Gly791Ser) c.2317G>A (p.Gly773Ser) c.1714G>A (p.Gly572Ser) c.2224G>A (p.Gly742Ser) c.1885G>A (p.Gly629Ser) c.2233G>A (p.Gly745Ser) c.2241+100G>A (n.2241+100G>A) c.2205+100G>A (n.2205+100G>A) c.2263G>A (p.Gly755Ser) c.2133+100G>A (n.2133+100G>A) c.1680-6103G>A (n.1680-6103G>A) c.2359G>A (p.Gly787Ser) c.2425G>A (p.Gly809Ser) c.2422G>A (p.Gly808Ser) c.2395G>A (p.Gly799Ser) c.2341G>A (p.Gly781Ser) c.2314G>A (p.Gly772Ser) c.2299G>A (p.Gly767Ser) c.1906G>A (p.Gly636Ser) c.2368G>A (p.Gly790Ser) c.2305G>A (p.Gly769Ser) c.2302G>A (p.Gly768Ser) c.2260G>A (p.Gly754Ser) c.1333G>A (p.Gly445Ser) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406947C>A | CA511339322 | KCNQ2 | c.2370G>T (p.Pro790=) c.2316G>T (p.Pro772=) c.1713G>T (p.Pro571=) c.2223G>T (p.Pro741=) c.1884G>T (p.Pro628=) c.2232G>T (p.Pro744=) c.2241+99G>T (n.2241+99G>T) c.2205+99G>T (n.2205+99G>T) c.2262G>T (p.Pro754=) c.2133+99G>T (n.2133+99G>T) c.1680-6104G>T (n.1680-6104G>T) c.2358G>T (p.Pro786=) c.2424G>T (p.Pro808=) c.2421G>T (p.Pro807=) c.2394G>T (p.Pro798=) c.2340G>T (p.Pro780=) c.2313G>T (p.Pro771=) c.2298G>T (p.Pro766=) c.1905G>T (p.Pro635=) c.2367G>T (p.Pro789=) c.2304G>T (p.Pro768=) c.2301G>T (p.Pro767=) c.2259G>T (p.Pro753=) c.1332G>T (p.Pro444=) | gnomAD v4 |
20 | g.63406947C= | CA2374774326 | KCNQ2 | c.2370G= (p.Pro790=) c.2316G= (p.Pro772=) c.1713G= (p.Pro571=) c.2223G= (p.Pro741=) c.1884G= (p.Pro628=) c.2232G= (p.Pro744=) c.2241+99G= (n.2241+99G=) c.2205+99G= (n.2205+99G=) c.2262G= (p.Pro754=) c.2133+99G= (n.2133+99G=) c.1680-6104G= (n.1680-6104G=) c.2358G= (p.Pro786=) c.2424G= (p.Pro808=) c.2421G= (p.Pro807=) c.2394G= (p.Pro798=) c.2340G= (p.Pro780=) c.2313G= (p.Pro771=) c.2298G= (p.Pro766=) c.1905G= (p.Pro635=) c.2367G= (p.Pro789=) c.2304G= (p.Pro768=) c.2301G= (p.Pro767=) c.2259G= (p.Pro753=) c.1332G= (p.Pro444=) | |
20 | g.63406947C>G | CA9958101 | KCNQ2 | c.2370G>C (p.Pro790=) c.2316G>C (p.Pro772=) c.1713G>C (p.Pro571=) c.2223G>C (p.Pro741=) c.1884G>C (p.Pro628=) c.2232G>C (p.Pro744=) c.2241+99G>C (n.2241+99G>C) c.2205+99G>C (n.2205+99G>C) c.2262G>C (p.Pro754=) c.2133+99G>C (n.2133+99G>C) c.1680-6104G>C (n.1680-6104G>C) c.2358G>C (p.Pro786=) c.2424G>C (p.Pro808=) c.2421G>C (p.Pro807=) c.2394G>C (p.Pro798=) c.2340G>C (p.Pro780=) c.2313G>C (p.Pro771=) c.2298G>C (p.Pro766=) c.1905G>C (p.Pro635=) c.2367G>C (p.Pro789=) c.2304G>C (p.Pro768=) c.2301G>C (p.Pro767=) c.2259G>C (p.Pro753=) c.1332G>C (p.Pro444=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406947C>T | CA231195 | KCNQ2 | c.2370G>A (p.Pro790=) c.2316G>A (p.Pro772=) c.1713G>A (p.Pro571=) c.2223G>A (p.Pro741=) c.1884G>A (p.Pro628=) c.2232G>A (p.Pro744=) c.2241+99G>A (n.2241+99G>A) c.2205+99G>A (n.2205+99G>A) c.2262G>A (p.Pro754=) c.2133+99G>A (n.2133+99G>A) c.1680-6104G>A (n.1680-6104G>A) c.2358G>A (p.Pro786=) c.2424G>A (p.Pro808=) c.2421G>A (p.Pro807=) c.2394G>A (p.Pro798=) c.2340G>A (p.Pro780=) c.2313G>A (p.Pro771=) c.2298G>A (p.Pro766=) c.1905G>A (p.Pro635=) c.2367G>A (p.Pro789=) c.2304G>A (p.Pro768=) c.2301G>A (p.Pro767=) c.2259G>A (p.Pro753=) c.1332G>A (p.Pro444=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406947_63406948delinsCG | CA2374774327 | KCNQ2 | c.2369_2370delinsCG (p.Pro790=) c.2315_2316delinsCG (p.Pro772=) c.1712_1713delinsCG (p.Pro571=) c.2222_2223delinsCG (p.Pro741=) c.1883_1884delinsCG (p.Pro628=) c.2231_2232delinsCG (p.Pro744=) c.2241+98_2241+99delinsCG (n.2241+98_2241+99delinsCG) c.2205+98_2205+99delinsCG (n.2205+98_2205+99delinsCG) c.2261_2262delinsCG (p.Pro754=) c.2133+98_2133+99delinsCG (n.2133+98_2133+99delinsCG) c.1680-6105_1680-6104delinsCG (n.1680-6105_1680-6104delinsCG) c.2357_2358delinsCG (p.Pro786=) c.2423_2424delinsCG (p.Pro808=) c.2420_2421delinsCG (p.Pro807=) c.2393_2394delinsCG (p.Pro798=) c.2339_2340delinsCG (p.Pro780=) c.2312_2313delinsCG (p.Pro771=) c.2297_2298delinsCG (p.Pro766=) c.1904_1905delinsCG (p.Pro635=) c.2366_2367delinsCG (p.Pro789=) c.2303_2304delinsCG (p.Pro768=) c.2300_2301delinsCG (p.Pro767=) c.2258_2259delinsCG (p.Pro753=) c.1331_1332delinsCG (p.Pro444=) | |
20 | g.63406948G>A | CA9958102 | KCNQ2 | c.2369C>T (p.Pro790Leu) c.2315C>T (p.Pro772Leu) c.1712C>T (p.Pro571Leu) c.2222C>T (p.Pro741Leu) c.1883C>T (p.Pro628Leu) c.2231C>T (p.Pro744Leu) c.2241+98C>T (n.2241+98C>T) c.2205+98C>T (n.2205+98C>T) c.2261C>T (p.Pro754Leu) c.2133+98C>T (n.2133+98C>T) c.1680-6105C>T (n.1680-6105C>T) c.2357C>T (p.Pro786Leu) c.2423C>T (p.Pro808Leu) c.2420C>T (p.Pro807Leu) c.2393C>T (p.Pro798Leu) c.2339C>T (p.Pro780Leu) c.2312C>T (p.Pro771Leu) c.2297C>T (p.Pro766Leu) c.1904C>T (p.Pro635Leu) c.2366C>T (p.Pro789Leu) c.2303C>T (p.Pro768Leu) c.2300C>T (p.Pro767Leu) c.2258C>T (p.Pro753Leu) c.1331C>T (p.Pro444Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63406948G>C | CA409637825 | KCNQ2 | c.2369C>G (p.Pro790Arg) c.2315C>G (p.Pro772Arg) c.1712C>G (p.Pro571Arg) c.2222C>G (p.Pro741Arg) c.1883C>G (p.Pro628Arg) c.2231C>G (p.Pro744Arg) c.2241+98C>G (n.2241+98C>G) c.2205+98C>G (n.2205+98C>G) c.2261C>G (p.Pro754Arg) c.2133+98C>G (n.2133+98C>G) c.1680-6105C>G (n.1680-6105C>G) c.2357C>G (p.Pro786Arg) c.2423C>G (p.Pro808Arg) c.2420C>G (p.Pro807Arg) c.2393C>G (p.Pro798Arg) c.2339C>G (p.Pro780Arg) c.2312C>G (p.Pro771Arg) c.2297C>G (p.Pro766Arg) c.1904C>G (p.Pro635Arg) c.2366C>G (p.Pro789Arg) c.2303C>G (p.Pro768Arg) c.2300C>G (p.Pro767Arg) c.2258C>G (p.Pro753Arg) c.1331C>G (p.Pro444Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406948G= | CA2374774328 | KCNQ2 | c.2369C= (p.Pro790=) c.2315C= (p.Pro772=) c.1712C= (p.Pro571=) c.2222C= (p.Pro741=) c.1883C= (p.Pro628=) c.2231C= (p.Pro744=) c.2241+98C= (n.2241+98C=) c.2205+98C= (n.2205+98C=) c.2261C= (p.Pro754=) c.2133+98C= (n.2133+98C=) c.1680-6105C= (n.1680-6105C=) c.2357C= (p.Pro786=) c.2423C= (p.Pro808=) c.2420C= (p.Pro807=) c.2393C= (p.Pro798=) c.2339C= (p.Pro780=) c.2312C= (p.Pro771=) c.2297C= (p.Pro766=) c.1904C= (p.Pro635=) c.2366C= (p.Pro789=) c.2303C= (p.Pro768=) c.2300C= (p.Pro767=) c.2258C= (p.Pro753=) c.1331C= (p.Pro444=) | |
20 | g.63406948G>T | CA409637822 | KCNQ2 | c.2369C>A (p.Pro790Gln) c.2315C>A (p.Pro772Gln) c.1712C>A (p.Pro571Gln) c.2222C>A (p.Pro741Gln) c.1883C>A (p.Pro628Gln) c.2231C>A (p.Pro744Gln) c.2241+98C>A (n.2241+98C>A) c.2205+98C>A (n.2205+98C>A) c.2261C>A (p.Pro754Gln) c.2133+98C>A (n.2133+98C>A) c.1680-6105C>A (n.1680-6105C>A) c.2357C>A (p.Pro786Gln) c.2423C>A (p.Pro808Gln) c.2420C>A (p.Pro807Gln) c.2393C>A (p.Pro798Gln) c.2339C>A (p.Pro780Gln) c.2312C>A (p.Pro771Gln) c.2297C>A (p.Pro766Gln) c.1904C>A (p.Pro635Gln) c.2366C>A (p.Pro789Gln) c.2303C>A (p.Pro768Gln) c.2300C>A (p.Pro767Gln) c.2258C>A (p.Pro753Gln) c.1331C>A (p.Pro444Gln) | gnomAD v4 |
20 | g.63406948_63406949delinsCC | CA2573157295 | KCNQ2 | c.2368_2369delinsGG (p.Pro790Gly) c.2314_2315delinsGG (p.Pro772Gly) c.1711_1712delinsGG (p.Pro571Gly) c.2221_2222delinsGG (p.Pro741Gly) c.1882_1883delinsGG (p.Pro628Gly) c.2230_2231delinsGG (p.Pro744Gly) c.2241+97_2241+98delinsGG (n.2241+97_2241+98delinsGG) c.2205+97_2205+98delinsGG (n.2205+97_2205+98delinsGG) c.2260_2261delinsGG (p.Pro754Gly) c.2133+97_2133+98delinsGG (n.2133+97_2133+98delinsGG) c.1680-6106_1680-6105delinsGG (n.1680-6106_1680-6105delinsGG) c.2356_2357delinsGG (p.Pro786Gly) c.2422_2423delinsGG (p.Pro808Gly) c.2419_2420delinsGG (p.Pro807Gly) c.2392_2393delinsGG (p.Pro798Gly) c.2338_2339delinsGG (p.Pro780Gly) c.2311_2312delinsGG (p.Pro771Gly) c.2296_2297delinsGG (p.Pro766Gly) c.1903_1904delinsGG (p.Pro635Gly) c.2365_2366delinsGG (p.Pro789Gly) c.2302_2303delinsGG (p.Pro768Gly) c.2299_2300delinsGG (p.Pro767Gly) c.2257_2258delinsGG (p.Pro753Gly) c.1330_1331delinsGG (p.Pro444Gly) | ClinVar |
20 | g.63406951del | CA1139666803 | KCNQ2 | c.2369del (p.Pro790ArgfsTer?) c.2315del (p.Pro772ArgfsTer?) c.1712del (p.Pro571ArgfsTer?) c.2222del (p.Pro741ArgfsTer?) c.1883del (p.Pro628ArgfsTer?) c.2231del (p.Pro744ArgfsTer?) c.2241+98del (n.2241+98del) c.2205+98del (n.2205+98del) c.2261del (p.Pro754ArgfsTer?) c.2133+98del (n.2133+98del) c.1680-6105del (n.1680-6105del) c.2357del (p.Pro786ArgfsTer?) c.2423del (p.Pro808ArgfsTer?) c.2420del (p.Pro807ArgfsTer?) c.2393del (p.Pro798ArgfsTer?) c.2339del (p.Pro780ArgfsTer?) c.2312del (p.Pro771ArgfsTer?) c.2297del (p.Pro766ArgfsTer?) c.1904del (p.Pro635ArgfsTer?) c.2366del (p.Pro789ArgfsTer?) c.2303del (p.Pro768ArgfsTer?) c.2300del (p.Pro767ArgfsTer?) c.2258del (p.Pro753ArgfsTer?) c.1331del (p.Pro444ArgfsTer?) | ClinVar dbSNP gnomAD v4 |
20 | g.63406949G>A | CA409637830 | KCNQ2 | c.2368C>T (p.Pro790Ser) c.2314C>T (p.Pro772Ser) c.1711C>T (p.Pro571Ser) c.2221C>T (p.Pro741Ser) c.1882C>T (p.Pro628Ser) c.2230C>T (p.Pro744Ser) c.2241+97C>T (n.2241+97C>T) c.2205+97C>T (n.2205+97C>T) c.2260C>T (p.Pro754Ser) c.2133+97C>T (n.2133+97C>T) c.1680-6106C>T (n.1680-6106C>T) c.2356C>T (p.Pro786Ser) c.2422C>T (p.Pro808Ser) c.2419C>T (p.Pro807Ser) c.2392C>T (p.Pro798Ser) c.2338C>T (p.Pro780Ser) c.2311C>T (p.Pro771Ser) c.2296C>T (p.Pro766Ser) c.1903C>T (p.Pro635Ser) c.2365C>T (p.Pro789Ser) c.2302C>T (p.Pro768Ser) c.2299C>T (p.Pro767Ser) c.2257C>T (p.Pro753Ser) c.1330C>T (p.Pro444Ser) | gnomAD v4 |
20 | g.63406949G>C | CA409637831 | KCNQ2 | c.2368C>G (p.Pro790Ala) c.2314C>G (p.Pro772Ala) c.1711C>G (p.Pro571Ala) c.2221C>G (p.Pro741Ala) c.1882C>G (p.Pro628Ala) c.2230C>G (p.Pro744Ala) c.2241+97C>G (n.2241+97C>G) c.2205+97C>G (n.2205+97C>G) c.2260C>G (p.Pro754Ala) c.2133+97C>G (n.2133+97C>G) c.1680-6106C>G (n.1680-6106C>G) c.2356C>G (p.Pro786Ala) c.2422C>G (p.Pro808Ala) c.2419C>G (p.Pro807Ala) c.2392C>G (p.Pro798Ala) c.2338C>G (p.Pro780Ala) c.2311C>G (p.Pro771Ala) c.2296C>G (p.Pro766Ala) c.1903C>G (p.Pro635Ala) c.2365C>G (p.Pro789Ala) c.2302C>G (p.Pro768Ala) c.2299C>G (p.Pro767Ala) c.2257C>G (p.Pro753Ala) c.1330C>G (p.Pro444Ala) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63406949G= | CA2374774329 | KCNQ2 | c.2368C= (p.Pro790=) c.2314C= (p.Pro772=) c.1711C= (p.Pro571=) c.2221C= (p.Pro741=) c.1882C= (p.Pro628=) c.2230C= (p.Pro744=) c.2241+97C= (n.2241+97C=) c.2205+97C= (n.2205+97C=) c.2260C= (p.Pro754=) c.2133+97C= (n.2133+97C=) c.1680-6106C= (n.1680-6106C=) c.2356C= (p.Pro786=) c.2422C= (p.Pro808=) c.2419C= (p.Pro807=) c.2392C= (p.Pro798=) c.2338C= (p.Pro780=) c.2311C= (p.Pro771=) c.2296C= (p.Pro766=) c.1903C= (p.Pro635=) c.2365C= (p.Pro789=) c.2302C= (p.Pro768=) c.2299C= (p.Pro767=) c.2257C= (p.Pro753=) c.1330C= (p.Pro444=) | |
20 | g.63406949G>T | CA409637835 | KCNQ2 | c.2368C>A (p.Pro790Thr) c.2314C>A (p.Pro772Thr) c.1711C>A (p.Pro571Thr) c.2221C>A (p.Pro741Thr) c.1882C>A (p.Pro628Thr) c.2230C>A (p.Pro744Thr) c.2241+97C>A (n.2241+97C>A) c.2205+97C>A (n.2205+97C>A) c.2260C>A (p.Pro754Thr) c.2133+97C>A (n.2133+97C>A) c.1680-6106C>A (n.1680-6106C>A) c.2356C>A (p.Pro786Thr) c.2422C>A (p.Pro808Thr) c.2419C>A (p.Pro807Thr) c.2392C>A (p.Pro798Thr) c.2338C>A (p.Pro780Thr) c.2311C>A (p.Pro771Thr) c.2296C>A (p.Pro766Thr) c.1903C>A (p.Pro635Thr) c.2365C>A (p.Pro789Thr) c.2302C>A (p.Pro768Thr) c.2299C>A (p.Pro767Thr) c.2257C>A (p.Pro753Thr) c.1330C>A (p.Pro444Thr) | gnomAD v4 |
20 | g.63406950G>A | CA511339323 | KCNQ2 | c.2367C>T (p.Thr789=) c.2313C>T (p.Thr771=) c.1710C>T (p.Thr570=) c.2220C>T (p.Thr740=) c.1881C>T (p.Thr627=) c.2229C>T (p.Thr743=) c.2241+96C>T (n.2241+96C>T) c.2205+96C>T (n.2205+96C>T) c.2259C>T (p.Thr753=) c.2133+96C>T (n.2133+96C>T) c.1680-6107C>T (n.1680-6107C>T) c.2355C>T (p.Thr785=) c.2421C>T (p.Thr807=) c.2418C>T (p.Thr806=) c.2391C>T (p.Thr797=) c.2337C>T (p.Thr779=) c.2310C>T (p.Thr770=) c.2295C>T (p.Thr765=) c.1902C>T (p.Thr634=) c.2364C>T (p.Thr788=) c.2301C>T (p.Thr767=) c.2298C>T (p.Thr766=) c.2256C>T (p.Thr752=) c.1329C>T (p.Thr443=) | dbSNP gnomAD v2 |
20 | g.63406950G>C | CA511339324 | KCNQ2 | c.2367C>G (p.Thr789=) c.2313C>G (p.Thr771=) c.1710C>G (p.Thr570=) c.2220C>G (p.Thr740=) c.1881C>G (p.Thr627=) c.2229C>G (p.Thr743=) c.2241+96C>G (n.2241+96C>G) c.2205+96C>G (n.2205+96C>G) c.2259C>G (p.Thr753=) c.2133+96C>G (n.2133+96C>G) c.1680-6107C>G (n.1680-6107C>G) c.2355C>G (p.Thr785=) c.2421C>G (p.Thr807=) c.2418C>G (p.Thr806=) c.2391C>G (p.Thr797=) c.2337C>G (p.Thr779=) c.2310C>G (p.Thr770=) c.2295C>G (p.Thr765=) c.1902C>G (p.Thr634=) c.2364C>G (p.Thr788=) c.2301C>G (p.Thr767=) c.2298C>G (p.Thr766=) c.2256C>G (p.Thr752=) c.1329C>G (p.Thr443=) | ClinVar dbSNP |
20 | g.63406950G= | CA2374774330 | KCNQ2 | c.2367C= (p.Thr789=) c.2313C= (p.Thr771=) c.1710C= (p.Thr570=) c.2220C= (p.Thr740=) c.1881C= (p.Thr627=) c.2229C= (p.Thr743=) c.2241+96C= (n.2241+96C=) c.2205+96C= (n.2205+96C=) c.2259C= (p.Thr753=) c.2133+96C= (n.2133+96C=) c.1680-6107C= (n.1680-6107C=) c.2355C= (p.Thr785=) c.2421C= (p.Thr807=) c.2418C= (p.Thr806=) c.2391C= (p.Thr797=) c.2337C= (p.Thr779=) c.2310C= (p.Thr770=) c.2295C= (p.Thr765=) c.1902C= (p.Thr634=) c.2364C= (p.Thr788=) c.2301C= (p.Thr767=) c.2298C= (p.Thr766=) c.2256C= (p.Thr752=) c.1329C= (p.Thr443=) | |
20 | g.63406950G>T | CA511339325 | KCNQ2 | c.2367C>A (p.Thr789=) c.2313C>A (p.Thr771=) c.1710C>A (p.Thr570=) c.2220C>A (p.Thr740=) c.1881C>A (p.Thr627=) c.2229C>A (p.Thr743=) c.2241+96C>A (n.2241+96C>A) c.2205+96C>A (n.2205+96C>A) c.2259C>A (p.Thr753=) c.2133+96C>A (n.2133+96C>A) c.1680-6107C>A (n.1680-6107C>A) c.2355C>A (p.Thr785=) c.2421C>A (p.Thr807=) c.2418C>A (p.Thr806=) c.2391C>A (p.Thr797=) c.2337C>A (p.Thr779=) c.2310C>A (p.Thr770=) c.2295C>A (p.Thr765=) c.1902C>A (p.Thr634=) c.2364C>A (p.Thr788=) c.2301C>A (p.Thr767=) c.2298C>A (p.Thr766=) c.2256C>A (p.Thr752=) c.1329C>A (p.Thr443=) | |
20 | g.63406951G>A | CA9958103 | KCNQ2 | c.2366C>T (p.Thr789Ile) c.2312C>T (p.Thr771Ile) c.1709C>T (p.Thr570Ile) c.2219C>T (p.Thr740Ile) c.1880C>T (p.Thr627Ile) c.2228C>T (p.Thr743Ile) c.2241+95C>T (n.2241+95C>T) c.2205+95C>T (n.2205+95C>T) c.2258C>T (p.Thr753Ile) c.2133+95C>T (n.2133+95C>T) c.1680-6108C>T (n.1680-6108C>T) c.2354C>T (p.Thr785Ile) c.2420C>T (p.Thr807Ile) c.2417C>T (p.Thr806Ile) c.2390C>T (p.Thr797Ile) c.2336C>T (p.Thr779Ile) c.2309C>T (p.Thr770Ile) c.2294C>T (p.Thr765Ile) c.1901C>T (p.Thr634Ile) c.2363C>T (p.Thr788Ile) c.2300C>T (p.Thr767Ile) c.2297C>T (p.Thr766Ile) c.2255C>T (p.Thr752Ile) c.1328C>T (p.Thr443Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406951G>C | CA409637840 | KCNQ2 | c.2366C>G (p.Thr789Ser) c.2312C>G (p.Thr771Ser) c.1709C>G (p.Thr570Ser) c.2219C>G (p.Thr740Ser) c.1880C>G (p.Thr627Ser) c.2228C>G (p.Thr743Ser) c.2241+95C>G (n.2241+95C>G) c.2205+95C>G (n.2205+95C>G) c.2258C>G (p.Thr753Ser) c.2133+95C>G (n.2133+95C>G) c.1680-6108C>G (n.1680-6108C>G) c.2354C>G (p.Thr785Ser) c.2420C>G (p.Thr807Ser) c.2417C>G (p.Thr806Ser) c.2390C>G (p.Thr797Ser) c.2336C>G (p.Thr779Ser) c.2309C>G (p.Thr770Ser) c.2294C>G (p.Thr765Ser) c.1901C>G (p.Thr634Ser) c.2363C>G (p.Thr788Ser) c.2300C>G (p.Thr767Ser) c.2297C>G (p.Thr766Ser) c.2255C>G (p.Thr752Ser) c.1328C>G (p.Thr443Ser) | |
20 | g.63406951G= | CA2374774331 | KCNQ2 | c.2366C= (p.Thr789=) c.2312C= (p.Thr771=) c.1709C= (p.Thr570=) c.2219C= (p.Thr740=) c.1880C= (p.Thr627=) c.2228C= (p.Thr743=) c.2241+95C= (n.2241+95C=) c.2205+95C= (n.2205+95C=) c.2258C= (p.Thr753=) c.2133+95C= (n.2133+95C=) c.1680-6108C= (n.1680-6108C=) c.2354C= (p.Thr785=) c.2420C= (p.Thr807=) c.2417C= (p.Thr806=) c.2390C= (p.Thr797=) c.2336C= (p.Thr779=) c.2309C= (p.Thr770=) c.2294C= (p.Thr765=) c.1901C= (p.Thr634=) c.2363C= (p.Thr788=) c.2300C= (p.Thr767=) c.2297C= (p.Thr766=) c.2255C= (p.Thr752=) c.1328C= (p.Thr443=) | |
20 | g.63406951G>T | CA409637843 | KCNQ2 | c.2366C>A (p.Thr789Asn) c.2312C>A (p.Thr771Asn) c.1709C>A (p.Thr570Asn) c.2219C>A (p.Thr740Asn) c.1880C>A (p.Thr627Asn) c.2228C>A (p.Thr743Asn) c.2241+95C>A (n.2241+95C>A) c.2205+95C>A (n.2205+95C>A) c.2258C>A (p.Thr753Asn) c.2133+95C>A (n.2133+95C>A) c.1680-6108C>A (n.1680-6108C>A) c.2354C>A (p.Thr785Asn) c.2420C>A (p.Thr807Asn) c.2417C>A (p.Thr806Asn) c.2390C>A (p.Thr797Asn) c.2336C>A (p.Thr779Asn) c.2309C>A (p.Thr770Asn) c.2294C>A (p.Thr765Asn) c.1901C>A (p.Thr634Asn) c.2363C>A (p.Thr788Asn) c.2300C>A (p.Thr767Asn) c.2297C>A (p.Thr766Asn) c.2255C>A (p.Thr752Asn) c.1328C>A (p.Thr443Asn) | gnomAD v4 |
20 | g.63406952T>A | CA409637845 | KCNQ2 | c.2365A>T (p.Thr789Ser) c.2311A>T (p.Thr771Ser) c.1708A>T (p.Thr570Ser) c.2218A>T (p.Thr740Ser) c.1879A>T (p.Thr627Ser) c.2227A>T (p.Thr743Ser) c.2241+94A>T (n.2241+94A>T) c.2205+94A>T (n.2205+94A>T) c.2257A>T (p.Thr753Ser) c.2133+94A>T (n.2133+94A>T) c.1680-6109A>T (n.1680-6109A>T) c.2353A>T (p.Thr785Ser) c.2419A>T (p.Thr807Ser) c.2416A>T (p.Thr806Ser) c.2389A>T (p.Thr797Ser) c.2335A>T (p.Thr779Ser) c.2308A>T (p.Thr770Ser) c.2293A>T (p.Thr765Ser) c.1900A>T (p.Thr634Ser) c.2362A>T (p.Thr788Ser) c.2299A>T (p.Thr767Ser) c.2296A>T (p.Thr766Ser) c.2254A>T (p.Thr752Ser) c.1327A>T (p.Thr443Ser) | |
20 | g.63406952T>C | CA409637848 | KCNQ2 | c.2365A>G (p.Thr789Ala) c.2311A>G (p.Thr771Ala) c.1708A>G (p.Thr570Ala) c.2218A>G (p.Thr740Ala) c.1879A>G (p.Thr627Ala) c.2227A>G (p.Thr743Ala) c.2241+94A>G (n.2241+94A>G) c.2205+94A>G (n.2205+94A>G) c.2257A>G (p.Thr753Ala) c.2133+94A>G (n.2133+94A>G) c.1680-6109A>G (n.1680-6109A>G) c.2353A>G (p.Thr785Ala) c.2419A>G (p.Thr807Ala) c.2416A>G (p.Thr806Ala) c.2389A>G (p.Thr797Ala) c.2335A>G (p.Thr779Ala) c.2308A>G (p.Thr770Ala) c.2293A>G (p.Thr765Ala) c.1900A>G (p.Thr634Ala) c.2362A>G (p.Thr788Ala) c.2299A>G (p.Thr767Ala) c.2296A>G (p.Thr766Ala) c.2254A>G (p.Thr752Ala) c.1327A>G (p.Thr443Ala) | dbSNP gnomAD v4 |
20 | g.63406952T>G | CA409637850 | KCNQ2 | c.2365A>C (p.Thr789Pro) c.2311A>C (p.Thr771Pro) c.1708A>C (p.Thr570Pro) c.2218A>C (p.Thr740Pro) c.1879A>C (p.Thr627Pro) c.2227A>C (p.Thr743Pro) c.2241+94A>C (n.2241+94A>C) c.2205+94A>C (n.2205+94A>C) c.2257A>C (p.Thr753Pro) c.2133+94A>C (n.2133+94A>C) c.1680-6109A>C (n.1680-6109A>C) c.2353A>C (p.Thr785Pro) c.2419A>C (p.Thr807Pro) c.2416A>C (p.Thr806Pro) c.2389A>C (p.Thr797Pro) c.2335A>C (p.Thr779Pro) c.2308A>C (p.Thr770Pro) c.2293A>C (p.Thr765Pro) c.1900A>C (p.Thr634Pro) c.2362A>C (p.Thr788Pro) c.2299A>C (p.Thr767Pro) c.2296A>C (p.Thr766Pro) c.2254A>C (p.Thr752Pro) c.1327A>C (p.Thr443Pro) | |
20 | g.63406952T= | CA2374774332 | KCNQ2 | c.2365A= (p.Thr789=) c.2311A= (p.Thr771=) c.1708A= (p.Thr570=) c.2218A= (p.Thr740=) c.1879A= (p.Thr627=) c.2227A= (p.Thr743=) c.2241+94A= (n.2241+94A=) c.2205+94A= (n.2205+94A=) c.2257A= (p.Thr753=) c.2133+94A= (n.2133+94A=) c.1680-6109A= (n.1680-6109A=) c.2353A= (p.Thr785=) c.2419A= (p.Thr807=) c.2416A= (p.Thr806=) c.2389A= (p.Thr797=) c.2335A= (p.Thr779=) c.2308A= (p.Thr770=) c.2293A= (p.Thr765=) c.1900A= (p.Thr634=) c.2362A= (p.Thr788=) c.2299A= (p.Thr767=) c.2296A= (p.Thr766=) c.2254A= (p.Thr752=) c.1327A= (p.Thr443=) | |
20 | g.63406953G>A | CA511339326 | KCNQ2 | c.2364C>T (p.Asp788=) c.2310C>T (p.Asp770=) c.1707C>T (p.Asp569=) c.2217C>T (p.Asp739=) c.1878C>T (p.Asp626=) c.2226C>T (p.Asp742=) c.2241+93C>T (n.2241+93C>T) c.2205+93C>T (n.2205+93C>T) c.2256C>T (p.Asp752=) c.2133+93C>T (n.2133+93C>T) c.1680-6110C>T (n.1680-6110C>T) c.2352C>T (p.Asp784=) c.2418C>T (p.Asp806=) c.2415C>T (p.Asp805=) c.2388C>T (p.Asp796=) c.2334C>T (p.Asp778=) c.2307C>T (p.Asp769=) c.2292C>T (p.Asp764=) c.1899C>T (p.Asp633=) c.2361C>T (p.Asp787=) c.2298C>T (p.Asp766=) c.2295C>T (p.Asp765=) c.2253C>T (p.Asp751=) c.1326C>T (p.Asp442=) | gnomAD v4 |
20 | g.63406953G>C | CA409637852 | KCNQ2 | c.2364C>G (p.Asp788Glu) c.2310C>G (p.Asp770Glu) c.1707C>G (p.Asp569Glu) c.2217C>G (p.Asp739Glu) c.1878C>G (p.Asp626Glu) c.2226C>G (p.Asp742Glu) c.2241+93C>G (n.2241+93C>G) c.2205+93C>G (n.2205+93C>G) c.2256C>G (p.Asp752Glu) c.2133+93C>G (n.2133+93C>G) c.1680-6110C>G (n.1680-6110C>G) c.2352C>G (p.Asp784Glu) c.2418C>G (p.Asp806Glu) c.2415C>G (p.Asp805Glu) c.2388C>G (p.Asp796Glu) c.2334C>G (p.Asp778Glu) c.2307C>G (p.Asp769Glu) c.2292C>G (p.Asp764Glu) c.1899C>G (p.Asp633Glu) c.2361C>G (p.Asp787Glu) c.2298C>G (p.Asp766Glu) c.2295C>G (p.Asp765Glu) c.2253C>G (p.Asp751Glu) c.1326C>G (p.Asp442Glu) | |
20 | g.63406953G>T | CA409637855 | KCNQ2 | c.2364C>A (p.Asp788Glu) c.2310C>A (p.Asp770Glu) c.1707C>A (p.Asp569Glu) c.2217C>A (p.Asp739Glu) c.1878C>A (p.Asp626Glu) c.2226C>A (p.Asp742Glu) c.2241+93C>A (n.2241+93C>A) c.2205+93C>A (n.2205+93C>A) c.2256C>A (p.Asp752Glu) c.2133+93C>A (n.2133+93C>A) c.1680-6110C>A (n.1680-6110C>A) c.2352C>A (p.Asp784Glu) c.2418C>A (p.Asp806Glu) c.2415C>A (p.Asp805Glu) c.2388C>A (p.Asp796Glu) c.2334C>A (p.Asp778Glu) c.2307C>A (p.Asp769Glu) c.2292C>A (p.Asp764Glu) c.1899C>A (p.Asp633Glu) c.2361C>A (p.Asp787Glu) c.2298C>A (p.Asp766Glu) c.2295C>A (p.Asp765Glu) c.2253C>A (p.Asp751Glu) c.1326C>A (p.Asp442Glu) | gnomAD v4 |
20 | g.63406954T>A | CA409637866 | KCNQ2 | c.2363A>T (p.Asp788Val) c.2309A>T (p.Asp770Val) c.1706A>T (p.Asp569Val) c.2216A>T (p.Asp739Val) c.1877A>T (p.Asp626Val) c.2225A>T (p.Asp742Val) c.2241+92A>T (n.2241+92A>T) c.2205+92A>T (n.2205+92A>T) c.2255A>T (p.Asp752Val) c.2133+92A>T (n.2133+92A>T) c.1680-6111A>T (n.1680-6111A>T) c.2351A>T (p.Asp784Val) c.2417A>T (p.Asp806Val) c.2414A>T (p.Asp805Val) c.2387A>T (p.Asp796Val) c.2333A>T (p.Asp778Val) c.2306A>T (p.Asp769Val) c.2291A>T (p.Asp764Val) c.1898A>T (p.Asp633Val) c.2360A>T (p.Asp787Val) c.2297A>T (p.Asp766Val) c.2294A>T (p.Asp765Val) c.2252A>T (p.Asp751Val) c.1325A>T (p.Asp442Val) | |
20 | g.63406954T>C | CA409637863 | KCNQ2 | c.2363A>G (p.Asp788Gly) c.2309A>G (p.Asp770Gly) c.1706A>G (p.Asp569Gly) c.2216A>G (p.Asp739Gly) c.1877A>G (p.Asp626Gly) c.2225A>G (p.Asp742Gly) c.2241+92A>G (n.2241+92A>G) c.2205+92A>G (n.2205+92A>G) c.2255A>G (p.Asp752Gly) c.2133+92A>G (n.2133+92A>G) c.1680-6111A>G (n.1680-6111A>G) c.2351A>G (p.Asp784Gly) c.2417A>G (p.Asp806Gly) c.2414A>G (p.Asp805Gly) c.2387A>G (p.Asp796Gly) c.2333A>G (p.Asp778Gly) c.2306A>G (p.Asp769Gly) c.2291A>G (p.Asp764Gly) c.1898A>G (p.Asp633Gly) c.2360A>G (p.Asp787Gly) c.2297A>G (p.Asp766Gly) c.2294A>G (p.Asp765Gly) c.2252A>G (p.Asp751Gly) c.1325A>G (p.Asp442Gly) | gnomAD v4 |
20 | g.63406954T>G | CA409637860 | KCNQ2 | c.2363A>C (p.Asp788Ala) c.2309A>C (p.Asp770Ala) c.1706A>C (p.Asp569Ala) c.2216A>C (p.Asp739Ala) c.1877A>C (p.Asp626Ala) c.2225A>C (p.Asp742Ala) c.2241+92A>C (n.2241+92A>C) c.2205+92A>C (n.2205+92A>C) c.2255A>C (p.Asp752Ala) c.2133+92A>C (n.2133+92A>C) c.1680-6111A>C (n.1680-6111A>C) c.2351A>C (p.Asp784Ala) c.2417A>C (p.Asp806Ala) c.2414A>C (p.Asp805Ala) c.2387A>C (p.Asp796Ala) c.2333A>C (p.Asp778Ala) c.2306A>C (p.Asp769Ala) c.2291A>C (p.Asp764Ala) c.1898A>C (p.Asp633Ala) c.2360A>C (p.Asp787Ala) c.2297A>C (p.Asp766Ala) c.2294A>C (p.Asp765Ala) c.2252A>C (p.Asp751Ala) c.1325A>C (p.Asp442Ala) | |
20 | g.63406958_63406960del | CA2816991467 | KCNQ2 | c.2361_2363del (p.Glu787del) c.2307_2309del (p.Glu769del) c.1704_1706del (p.Glu568del) c.2214_2216del (p.Glu738del) c.1875_1877del (p.Glu625del) c.2223_2225del (p.Glu741del) c.2241+90_2241+92del (n.2241+90_2241+92del) c.2205+90_2205+92del (n.2205+90_2205+92del) c.2253_2255del (p.Glu751del) c.2133+90_2133+92del (n.2133+90_2133+92del) c.1680-6113_1680-6111del (n.1680-6113_1680-6111del) c.2349_2351del (p.Glu783del) c.2415_2417del (p.Glu805del) c.2412_2414del (p.Glu804del) c.2385_2387del (p.Glu795del) c.2331_2333del (p.Glu777del) c.2304_2306del (p.Glu768del) c.2289_2291del (p.Glu763del) c.1896_1898del (p.Glu632del) c.2358_2360del (p.Glu786del) c.2295_2297del (p.Glu765del) c.2292_2294del (p.Glu764del) c.2250_2252del (p.Glu750del) c.1323_1325del (p.Glu441del) | |
20 | g.63406955C>A | CA409637869 | KCNQ2 | c.2362G>T (p.Asp788Tyr) c.2308G>T (p.Asp770Tyr) c.1705G>T (p.Asp569Tyr) c.2215G>T (p.Asp739Tyr) c.1876G>T (p.Asp626Tyr) c.2224G>T (p.Asp742Tyr) c.2241+91G>T (n.2241+91G>T) c.2205+91G>T (n.2205+91G>T) c.2254G>T (p.Asp752Tyr) c.2133+91G>T (n.2133+91G>T) c.1680-6112G>T (n.1680-6112G>T) c.2350G>T (p.Asp784Tyr) c.2416G>T (p.Asp806Tyr) c.2413G>T (p.Asp805Tyr) c.2386G>T (p.Asp796Tyr) c.2332G>T (p.Asp778Tyr) c.2305G>T (p.Asp769Tyr) c.2290G>T (p.Asp764Tyr) c.1897G>T (p.Asp633Tyr) c.2359G>T (p.Asp787Tyr) c.2296G>T (p.Asp766Tyr) c.2293G>T (p.Asp765Tyr) c.2251G>T (p.Asp751Tyr) c.1324G>T (p.Asp442Tyr) | |
20 | g.63406955C>G | CA409637872 | KCNQ2 | c.2362G>C (p.Asp788His) c.2308G>C (p.Asp770His) c.1705G>C (p.Asp569His) c.2215G>C (p.Asp739His) c.1876G>C (p.Asp626His) c.2224G>C (p.Asp742His) c.2241+91G>C (n.2241+91G>C) c.2205+91G>C (n.2205+91G>C) c.2254G>C (p.Asp752His) c.2133+91G>C (n.2133+91G>C) c.1680-6112G>C (n.1680-6112G>C) c.2350G>C (p.Asp784His) c.2416G>C (p.Asp806His) c.2413G>C (p.Asp805His) c.2386G>C (p.Asp796His) c.2332G>C (p.Asp778His) c.2305G>C (p.Asp769His) c.2290G>C (p.Asp764His) c.1897G>C (p.Asp633His) c.2359G>C (p.Asp787His) c.2296G>C (p.Asp766His) c.2293G>C (p.Asp765His) c.2251G>C (p.Asp751His) c.1324G>C (p.Asp442His) | |
20 | g.63406955C>T | CA409637875 | KCNQ2 | c.2362G>A (p.Asp788Asn) c.2308G>A (p.Asp770Asn) c.1705G>A (p.Asp569Asn) c.2215G>A (p.Asp739Asn) c.1876G>A (p.Asp626Asn) c.2224G>A (p.Asp742Asn) c.2241+91G>A (n.2241+91G>A) c.2205+91G>A (n.2205+91G>A) c.2254G>A (p.Asp752Asn) c.2133+91G>A (n.2133+91G>A) c.1680-6112G>A (n.1680-6112G>A) c.2350G>A (p.Asp784Asn) c.2416G>A (p.Asp806Asn) c.2413G>A (p.Asp805Asn) c.2386G>A (p.Asp796Asn) c.2332G>A (p.Asp778Asn) c.2305G>A (p.Asp769Asn) c.2290G>A (p.Asp764Asn) c.1897G>A (p.Asp633Asn) c.2359G>A (p.Asp787Asn) c.2296G>A (p.Asp766Asn) c.2293G>A (p.Asp765Asn) c.2251G>A (p.Asp751Asn) c.1324G>A (p.Asp442Asn) | |
20 | g.63406956C>A | CA409637877 | KCNQ2 | c.2361G>T (p.Glu787Asp) c.2307G>T (p.Glu769Asp) c.1704G>T (p.Glu568Asp) c.2214G>T (p.Glu738Asp) c.1875G>T (p.Glu625Asp) c.2223G>T (p.Glu741Asp) c.2241+90G>T (n.2241+90G>T) c.2205+90G>T (n.2205+90G>T) c.2253G>T (p.Glu751Asp) c.2133+90G>T (n.2133+90G>T) c.1680-6113G>T (n.1680-6113G>T) c.2349G>T (p.Glu783Asp) c.2415G>T (p.Glu805Asp) c.2412G>T (p.Glu804Asp) c.2385G>T (p.Glu795Asp) c.2331G>T (p.Glu777Asp) c.2304G>T (p.Glu768Asp) c.2289G>T (p.Glu763Asp) c.1896G>T (p.Glu632Asp) c.2358G>T (p.Glu786Asp) c.2295G>T (p.Glu765Asp) c.2292G>T (p.Glu764Asp) c.2250G>T (p.Glu750Asp) c.1323G>T (p.Glu441Asp) | gnomAD v4 |
20 | g.63406956C>G | CA409637880 | KCNQ2 | c.2361G>C (p.Glu787Asp) c.2307G>C (p.Glu769Asp) c.1704G>C (p.Glu568Asp) c.2214G>C (p.Glu738Asp) c.1875G>C (p.Glu625Asp) c.2223G>C (p.Glu741Asp) c.2241+90G>C (n.2241+90G>C) c.2205+90G>C (n.2205+90G>C) c.2253G>C (p.Glu751Asp) c.2133+90G>C (n.2133+90G>C) c.1680-6113G>C (n.1680-6113G>C) c.2349G>C (p.Glu783Asp) c.2415G>C (p.Glu805Asp) c.2412G>C (p.Glu804Asp) c.2385G>C (p.Glu795Asp) c.2331G>C (p.Glu777Asp) c.2304G>C (p.Glu768Asp) c.2289G>C (p.Glu763Asp) c.1896G>C (p.Glu632Asp) c.2358G>C (p.Glu786Asp) c.2295G>C (p.Glu765Asp) c.2292G>C (p.Glu764Asp) c.2250G>C (p.Glu750Asp) c.1323G>C (p.Glu441Asp) | |
20 | g.63406956C>T | CA511339328 | KCNQ2 | c.2361G>A (p.Glu787=) c.2307G>A (p.Glu769=) c.1704G>A (p.Glu568=) c.2214G>A (p.Glu738=) c.1875G>A (p.Glu625=) c.2223G>A (p.Glu741=) c.2241+90G>A (n.2241+90G>A) c.2205+90G>A (n.2205+90G>A) c.2253G>A (p.Glu751=) c.2133+90G>A (n.2133+90G>A) c.1680-6113G>A (n.1680-6113G>A) c.2349G>A (p.Glu783=) c.2415G>A (p.Glu805=) c.2412G>A (p.Glu804=) c.2385G>A (p.Glu795=) c.2331G>A (p.Glu777=) c.2304G>A (p.Glu768=) c.2289G>A (p.Glu763=) c.1896G>A (p.Glu632=) c.2358G>A (p.Glu786=) c.2295G>A (p.Glu765=) c.2292G>A (p.Glu764=) c.2250G>A (p.Glu750=) c.1323G>A (p.Glu441=) | |
20 | g.63406957T>A | CA409637883 | KCNQ2 | c.2360A>T (p.Glu787Val) c.2306A>T (p.Glu769Val) c.1703A>T (p.Glu568Val) c.2213A>T (p.Glu738Val) c.1874A>T (p.Glu625Val) c.2222A>T (p.Glu741Val) c.2241+89A>T (n.2241+89A>T) c.2205+89A>T (n.2205+89A>T) c.2252A>T (p.Glu751Val) c.2133+89A>T (n.2133+89A>T) c.1680-6114A>T (n.1680-6114A>T) c.2348A>T (p.Glu783Val) c.2414A>T (p.Glu805Val) c.2411A>T (p.Glu804Val) c.2384A>T (p.Glu795Val) c.2330A>T (p.Glu777Val) c.2303A>T (p.Glu768Val) c.2288A>T (p.Glu763Val) c.1895A>T (p.Glu632Val) c.2357A>T (p.Glu786Val) c.2294A>T (p.Glu765Val) c.2291A>T (p.Glu764Val) c.2249A>T (p.Glu750Val) c.1322A>T (p.Glu441Val) | |
20 | g.63406957T>C | CA9958104 | KCNQ2 | c.2360A>G (p.Glu787Gly) c.2306A>G (p.Glu769Gly) c.1703A>G (p.Glu568Gly) c.2213A>G (p.Glu738Gly) c.1874A>G (p.Glu625Gly) c.2222A>G (p.Glu741Gly) c.2241+89A>G (n.2241+89A>G) c.2205+89A>G (n.2205+89A>G) c.2252A>G (p.Glu751Gly) c.2133+89A>G (n.2133+89A>G) c.1680-6114A>G (n.1680-6114A>G) c.2348A>G (p.Glu783Gly) c.2414A>G (p.Glu805Gly) c.2411A>G (p.Glu804Gly) c.2384A>G (p.Glu795Gly) c.2330A>G (p.Glu777Gly) c.2303A>G (p.Glu768Gly) c.2288A>G (p.Glu763Gly) c.1895A>G (p.Glu632Gly) c.2357A>G (p.Glu786Gly) c.2294A>G (p.Glu765Gly) c.2291A>G (p.Glu764Gly) c.2249A>G (p.Glu750Gly) c.1322A>G (p.Glu441Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406957T>G | CA409637887 | KCNQ2 | c.2360A>C (p.Glu787Ala) c.2306A>C (p.Glu769Ala) c.1703A>C (p.Glu568Ala) c.2213A>C (p.Glu738Ala) c.1874A>C (p.Glu625Ala) c.2222A>C (p.Glu741Ala) c.2241+89A>C (n.2241+89A>C) c.2205+89A>C (n.2205+89A>C) c.2252A>C (p.Glu751Ala) c.2133+89A>C (n.2133+89A>C) c.1680-6114A>C (n.1680-6114A>C) c.2348A>C (p.Glu783Ala) c.2414A>C (p.Glu805Ala) c.2411A>C (p.Glu804Ala) c.2384A>C (p.Glu795Ala) c.2330A>C (p.Glu777Ala) c.2303A>C (p.Glu768Ala) c.2288A>C (p.Glu763Ala) c.1895A>C (p.Glu632Ala) c.2357A>C (p.Glu786Ala) c.2294A>C (p.Glu765Ala) c.2291A>C (p.Glu764Ala) c.2249A>C (p.Glu750Ala) c.1322A>C (p.Glu441Ala) | |
20 | g.63406957T= | CA2374774333 | KCNQ2 | c.2360A= (p.Glu787=) c.2306A= (p.Glu769=) c.1703A= (p.Glu568=) c.2213A= (p.Glu738=) c.1874A= (p.Glu625=) c.2222A= (p.Glu741=) c.2241+89A= (n.2241+89A=) c.2205+89A= (n.2205+89A=) c.2252A= (p.Glu751=) c.2133+89A= (n.2133+89A=) c.1680-6114A= (n.1680-6114A=) c.2348A= (p.Glu783=) c.2414A= (p.Glu805=) c.2411A= (p.Glu804=) c.2384A= (p.Glu795=) c.2330A= (p.Glu777=) c.2303A= (p.Glu768=) c.2288A= (p.Glu763=) c.1895A= (p.Glu632=) c.2357A= (p.Glu786=) c.2294A= (p.Glu765=) c.2291A= (p.Glu764=) c.2249A= (p.Glu750=) c.1322A= (p.Glu441=) | |
20 | g.63406958C>A | CA409637891 | KCNQ2 | c.2359G>T (p.Glu787Ter) c.2305G>T (p.Glu769Ter) c.1702G>T (p.Glu568Ter) c.2212G>T (p.Glu738Ter) c.1873G>T (p.Glu625Ter) c.2221G>T (p.Glu741Ter) c.2241+88G>T (n.2241+88G>T) c.2205+88G>T (n.2205+88G>T) c.2251G>T (p.Glu751Ter) c.2133+88G>T (n.2133+88G>T) c.1680-6115G>T (n.1680-6115G>T) c.2347G>T (p.Glu783Ter) c.2413G>T (p.Glu805Ter) c.2410G>T (p.Glu804Ter) c.2383G>T (p.Glu795Ter) c.2329G>T (p.Glu777Ter) c.2302G>T (p.Glu768Ter) c.2287G>T (p.Glu763Ter) c.1894G>T (p.Glu632Ter) c.2356G>T (p.Glu786Ter) c.2293G>T (p.Glu765Ter) c.2290G>T (p.Glu764Ter) c.2248G>T (p.Glu750Ter) c.1321G>T (p.Glu441Ter) | ClinVar dbSNP gnomAD v4 |
20 | g.63406958C>G | CA409637894 | KCNQ2 | c.2359G>C (p.Glu787Gln) c.2305G>C (p.Glu769Gln) c.1702G>C (p.Glu568Gln) c.2212G>C (p.Glu738Gln) c.1873G>C (p.Glu625Gln) c.2221G>C (p.Glu741Gln) c.2241+88G>C (n.2241+88G>C) c.2205+88G>C (n.2205+88G>C) c.2251G>C (p.Glu751Gln) c.2133+88G>C (n.2133+88G>C) c.1680-6115G>C (n.1680-6115G>C) c.2347G>C (p.Glu783Gln) c.2413G>C (p.Glu805Gln) c.2410G>C (p.Glu804Gln) c.2383G>C (p.Glu795Gln) c.2329G>C (p.Glu777Gln) c.2302G>C (p.Glu768Gln) c.2287G>C (p.Glu763Gln) c.1894G>C (p.Glu632Gln) c.2356G>C (p.Glu786Gln) c.2293G>C (p.Glu765Gln) c.2290G>C (p.Glu764Gln) c.2248G>C (p.Glu750Gln) c.1321G>C (p.Glu441Gln) | |
20 | g.63406958C>T | CA409637896 | KCNQ2 | c.2359G>A (p.Glu787Lys) c.2305G>A (p.Glu769Lys) c.1702G>A (p.Glu568Lys) c.2212G>A (p.Glu738Lys) c.1873G>A (p.Glu625Lys) c.2221G>A (p.Glu741Lys) c.2241+88G>A (n.2241+88G>A) c.2205+88G>A (n.2205+88G>A) c.2251G>A (p.Glu751Lys) c.2133+88G>A (n.2133+88G>A) c.1680-6115G>A (n.1680-6115G>A) c.2347G>A (p.Glu783Lys) c.2413G>A (p.Glu805Lys) c.2410G>A (p.Glu804Lys) c.2383G>A (p.Glu795Lys) c.2329G>A (p.Glu777Lys) c.2302G>A (p.Glu768Lys) c.2287G>A (p.Glu763Lys) c.1894G>A (p.Glu632Lys) c.2356G>A (p.Glu786Lys) c.2293G>A (p.Glu765Lys) c.2290G>A (p.Glu764Lys) c.2248G>A (p.Glu750Lys) c.1321G>A (p.Glu441Lys) | gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63406959C>A | CA409637900 | KCNQ2 | c.2358G>T (p.Gln786His) c.2304G>T (p.Gln768His) c.1701G>T (p.Gln567His) c.2211G>T (p.Gln737His) c.1872G>T (p.Gln624His) c.2220G>T (p.Gln740His) c.2241+87G>T (n.2241+87G>T) c.2205+87G>T (n.2205+87G>T) c.2250G>T (p.Gln750His) c.2133+87G>T (n.2133+87G>T) c.1680-6116G>T (n.1680-6116G>T) c.2346G>T (p.Gln782His) c.2412G>T (p.Gln804His) c.2409G>T (p.Gln803His) c.2382G>T (p.Gln794His) c.2328G>T (p.Gln776His) c.2301G>T (p.Gln767His) c.2286G>T (p.Gln762His) c.1893G>T (p.Gln631His) c.2355G>T (p.Gln785His) c.2292G>T (p.Gln764His) c.2289G>T (p.Gln763His) c.2247G>T (p.Gln749His) c.1320G>T (p.Gln440His) | gnomAD v4 |
20 | g.63406959C= | CA2374774334 | KCNQ2 | c.2358G= (p.Gln786=) c.2304G= (p.Gln768=) c.1701G= (p.Gln567=) c.2211G= (p.Gln737=) c.1872G= (p.Gln624=) c.2220G= (p.Gln740=) c.2241+87G= (n.2241+87G=) c.2205+87G= (n.2205+87G=) c.2250G= (p.Gln750=) c.2133+87G= (n.2133+87G=) c.1680-6116G= (n.1680-6116G=) c.2346G= (p.Gln782=) c.2412G= (p.Gln804=) c.2409G= (p.Gln803=) c.2382G= (p.Gln794=) c.2328G= (p.Gln776=) c.2301G= (p.Gln767=) c.2286G= (p.Gln762=) c.1893G= (p.Gln631=) c.2355G= (p.Gln785=) c.2292G= (p.Gln764=) c.2289G= (p.Gln763=) c.2247G= (p.Gln749=) c.1320G= (p.Gln440=) | |
20 | g.63406959C>G | CA409637902 | KCNQ2 | c.2358G>C (p.Gln786His) c.2304G>C (p.Gln768His) c.1701G>C (p.Gln567His) c.2211G>C (p.Gln737His) c.1872G>C (p.Gln624His) c.2220G>C (p.Gln740His) c.2241+87G>C (n.2241+87G>C) c.2205+87G>C (n.2205+87G>C) c.2250G>C (p.Gln750His) c.2133+87G>C (n.2133+87G>C) c.1680-6116G>C (n.1680-6116G>C) c.2346G>C (p.Gln782His) c.2412G>C (p.Gln804His) c.2409G>C (p.Gln803His) c.2382G>C (p.Gln794His) c.2328G>C (p.Gln776His) c.2301G>C (p.Gln767His) c.2286G>C (p.Gln762His) c.1893G>C (p.Gln631His) c.2355G>C (p.Gln785His) c.2292G>C (p.Gln764His) c.2289G>C (p.Gln763His) c.2247G>C (p.Gln749His) c.1320G>C (p.Gln440His) | gnomAD v4 |
20 | g.63406959C>T | CA511339329 | KCNQ2 | c.2358G>A (p.Gln786=) c.2304G>A (p.Gln768=) c.1701G>A (p.Gln567=) c.2211G>A (p.Gln737=) c.1872G>A (p.Gln624=) c.2220G>A (p.Gln740=) c.2241+87G>A (n.2241+87G>A) c.2205+87G>A (n.2205+87G>A) c.2250G>A (p.Gln750=) c.2133+87G>A (n.2133+87G>A) c.1680-6116G>A (n.1680-6116G>A) c.2346G>A (p.Gln782=) c.2412G>A (p.Gln804=) c.2409G>A (p.Gln803=) c.2382G>A (p.Gln794=) c.2328G>A (p.Gln776=) c.2301G>A (p.Gln767=) c.2286G>A (p.Gln762=) c.1893G>A (p.Gln631=) c.2355G>A (p.Gln785=) c.2292G>A (p.Gln764=) c.2289G>A (p.Gln763=) c.2247G>A (p.Gln749=) c.1320G>A (p.Gln440=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406960T>A | CA409637914 | KCNQ2 | c.2357A>T (p.Gln786Leu) c.2303A>T (p.Gln768Leu) c.1700A>T (p.Gln567Leu) c.2210A>T (p.Gln737Leu) c.1871A>T (p.Gln624Leu) c.2219A>T (p.Gln740Leu) c.2241+86A>T (n.2241+86A>T) c.2205+86A>T (n.2205+86A>T) c.2249A>T (p.Gln750Leu) c.2133+86A>T (n.2133+86A>T) c.1680-6117A>T (n.1680-6117A>T) c.2345A>T (p.Gln782Leu) c.2411A>T (p.Gln804Leu) c.2408A>T (p.Gln803Leu) c.2381A>T (p.Gln794Leu) c.2327A>T (p.Gln776Leu) c.2300A>T (p.Gln767Leu) c.2285A>T (p.Gln762Leu) c.1892A>T (p.Gln631Leu) c.2354A>T (p.Gln785Leu) c.2291A>T (p.Gln764Leu) c.2288A>T (p.Gln763Leu) c.2246A>T (p.Gln749Leu) c.1319A>T (p.Gln440Leu) | |
20 | g.63406960T>C | CA409637908 | KCNQ2 | c.2357A>G (p.Gln786Arg) c.2303A>G (p.Gln768Arg) c.1700A>G (p.Gln567Arg) c.2210A>G (p.Gln737Arg) c.1871A>G (p.Gln624Arg) c.2219A>G (p.Gln740Arg) c.2241+86A>G (n.2241+86A>G) c.2205+86A>G (n.2205+86A>G) c.2249A>G (p.Gln750Arg) c.2133+86A>G (n.2133+86A>G) c.1680-6117A>G (n.1680-6117A>G) c.2345A>G (p.Gln782Arg) c.2411A>G (p.Gln804Arg) c.2408A>G (p.Gln803Arg) c.2381A>G (p.Gln794Arg) c.2327A>G (p.Gln776Arg) c.2300A>G (p.Gln767Arg) c.2285A>G (p.Gln762Arg) c.1892A>G (p.Gln631Arg) c.2354A>G (p.Gln785Arg) c.2291A>G (p.Gln764Arg) c.2288A>G (p.Gln763Arg) c.2246A>G (p.Gln749Arg) c.1319A>G (p.Gln440Arg) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63406960T>G | CA409637911 | KCNQ2 | c.2357A>C (p.Gln786Pro) c.2303A>C (p.Gln768Pro) c.1700A>C (p.Gln567Pro) c.2210A>C (p.Gln737Pro) c.1871A>C (p.Gln624Pro) c.2219A>C (p.Gln740Pro) c.2241+86A>C (n.2241+86A>C) c.2205+86A>C (n.2205+86A>C) c.2249A>C (p.Gln750Pro) c.2133+86A>C (n.2133+86A>C) c.1680-6117A>C (n.1680-6117A>C) c.2345A>C (p.Gln782Pro) c.2411A>C (p.Gln804Pro) c.2408A>C (p.Gln803Pro) c.2381A>C (p.Gln794Pro) c.2327A>C (p.Gln776Pro) c.2300A>C (p.Gln767Pro) c.2285A>C (p.Gln762Pro) c.1892A>C (p.Gln631Pro) c.2354A>C (p.Gln785Pro) c.2291A>C (p.Gln764Pro) c.2288A>C (p.Gln763Pro) c.2246A>C (p.Gln749Pro) c.1319A>C (p.Gln440Pro) | |
20 | g.63406960T= | CA2374774335 | KCNQ2 | c.2357A= (p.Gln786=) c.2303A= (p.Gln768=) c.1700A= (p.Gln567=) c.2210A= (p.Gln737=) c.1871A= (p.Gln624=) c.2219A= (p.Gln740=) c.2241+86A= (n.2241+86A=) c.2205+86A= (n.2205+86A=) c.2249A= (p.Gln750=) c.2133+86A= (n.2133+86A=) c.1680-6117A= (n.1680-6117A=) c.2345A= (p.Gln782=) c.2411A= (p.Gln804=) c.2408A= (p.Gln803=) c.2381A= (p.Gln794=) c.2327A= (p.Gln776=) c.2300A= (p.Gln767=) c.2285A= (p.Gln762=) c.1892A= (p.Gln631=) c.2354A= (p.Gln785=) c.2291A= (p.Gln764=) c.2288A= (p.Gln763=) c.2246A= (p.Gln749=) c.1319A= (p.Gln440=) | |
20 | g.63406961G>A | CA409637917 | KCNQ2 | c.2356C>T (p.Gln786Ter) c.2302C>T (p.Gln768Ter) c.1699C>T (p.Gln567Ter) c.2209C>T (p.Gln737Ter) c.1870C>T (p.Gln624Ter) c.2218C>T (p.Gln740Ter) c.2241+85C>T (n.2241+85C>T) c.2205+85C>T (n.2205+85C>T) c.2248C>T (p.Gln750Ter) c.2133+85C>T (n.2133+85C>T) c.1680-6118C>T (n.1680-6118C>T) c.2344C>T (p.Gln782Ter) c.2410C>T (p.Gln804Ter) c.2407C>T (p.Gln803Ter) c.2380C>T (p.Gln794Ter) c.2326C>T (p.Gln776Ter) c.2299C>T (p.Gln767Ter) c.2284C>T (p.Gln762Ter) c.1891C>T (p.Gln631Ter) c.2353C>T (p.Gln785Ter) c.2290C>T (p.Gln764Ter) c.2287C>T (p.Gln763Ter) c.2245C>T (p.Gln749Ter) c.1318C>T (p.Gln440Ter) | |
20 | g.63406961G>C | CA409637921 | KCNQ2 | c.2356C>G (p.Gln786Glu) c.2302C>G (p.Gln768Glu) c.1699C>G (p.Gln567Glu) c.2209C>G (p.Gln737Glu) c.1870C>G (p.Gln624Glu) c.2218C>G (p.Gln740Glu) c.2241+85C>G (n.2241+85C>G) c.2205+85C>G (n.2205+85C>G) c.2248C>G (p.Gln750Glu) c.2133+85C>G (n.2133+85C>G) c.1680-6118C>G (n.1680-6118C>G) c.2344C>G (p.Gln782Glu) c.2410C>G (p.Gln804Glu) c.2407C>G (p.Gln803Glu) c.2380C>G (p.Gln794Glu) c.2326C>G (p.Gln776Glu) c.2299C>G (p.Gln767Glu) c.2284C>G (p.Gln762Glu) c.1891C>G (p.Gln631Glu) c.2353C>G (p.Gln785Glu) c.2290C>G (p.Gln764Glu) c.2287C>G (p.Gln763Glu) c.2245C>G (p.Gln749Glu) c.1318C>G (p.Gln440Glu) | |
20 | g.63406961G>T | CA409637924 | KCNQ2 | c.2356C>A (p.Gln786Lys) c.2302C>A (p.Gln768Lys) c.1699C>A (p.Gln567Lys) c.2209C>A (p.Gln737Lys) c.1870C>A (p.Gln624Lys) c.2218C>A (p.Gln740Lys) c.2241+85C>A (n.2241+85C>A) c.2205+85C>A (n.2205+85C>A) c.2248C>A (p.Gln750Lys) c.2133+85C>A (n.2133+85C>A) c.1680-6118C>A (n.1680-6118C>A) c.2344C>A (p.Gln782Lys) c.2410C>A (p.Gln804Lys) c.2407C>A (p.Gln803Lys) c.2380C>A (p.Gln794Lys) c.2326C>A (p.Gln776Lys) c.2299C>A (p.Gln767Lys) c.2284C>A (p.Gln762Lys) c.1891C>A (p.Gln631Lys) c.2353C>A (p.Gln785Lys) c.2290C>A (p.Gln764Lys) c.2287C>A (p.Gln763Lys) c.2245C>A (p.Gln749Lys) c.1318C>A (p.Gln440Lys) | gnomAD v4 |
20 | g.63406962C>A | CA511339333 | KCNQ2 | c.2355G>T (p.Arg785=) c.2301G>T (p.Arg767=) c.1698G>T (p.Arg566=) c.2208G>T (p.Arg736=) c.1869G>T (p.Arg623=) c.2217G>T (p.Arg739=) c.2241+84G>T (n.2241+84G>T) c.2205+84G>T (n.2205+84G>T) c.2247G>T (p.Arg749=) c.2133+84G>T (n.2133+84G>T) c.1680-6119G>T (n.1680-6119G>T) c.2343G>T (p.Arg781=) c.2409G>T (p.Arg803=) c.2406G>T (p.Arg802=) c.2379G>T (p.Arg793=) c.2325G>T (p.Arg775=) c.2298G>T (p.Arg766=) c.2283G>T (p.Arg761=) c.1890G>T (p.Arg630=) c.2352G>T (p.Arg784=) c.2289G>T (p.Arg763=) c.2286G>T (p.Arg762=) c.2244G>T (p.Arg748=) c.1317G>T (p.Arg439=) | gnomAD v4 |
20 | g.63406962C>G | CA511339331 | KCNQ2 | c.2355G>C (p.Arg785=) c.2301G>C (p.Arg767=) c.1698G>C (p.Arg566=) c.2208G>C (p.Arg736=) c.1869G>C (p.Arg623=) c.2217G>C (p.Arg739=) c.2241+84G>C (n.2241+84G>C) c.2205+84G>C (n.2205+84G>C) c.2247G>C (p.Arg749=) c.2133+84G>C (n.2133+84G>C) c.1680-6119G>C (n.1680-6119G>C) c.2343G>C (p.Arg781=) c.2409G>C (p.Arg803=) c.2406G>C (p.Arg802=) c.2379G>C (p.Arg793=) c.2325G>C (p.Arg775=) c.2298G>C (p.Arg766=) c.2283G>C (p.Arg761=) c.1890G>C (p.Arg630=) c.2352G>C (p.Arg784=) c.2289G>C (p.Arg763=) c.2286G>C (p.Arg762=) c.2244G>C (p.Arg748=) c.1317G>C (p.Arg439=) | |
20 | g.63406962C>T | CA511339332 | KCNQ2 | c.2355G>A (p.Arg785=) c.2301G>A (p.Arg767=) c.1698G>A (p.Arg566=) c.2208G>A (p.Arg736=) c.1869G>A (p.Arg623=) c.2217G>A (p.Arg739=) c.2241+84G>A (n.2241+84G>A) c.2205+84G>A (n.2205+84G>A) c.2247G>A (p.Arg749=) c.2133+84G>A (n.2133+84G>A) c.1680-6119G>A (n.1680-6119G>A) c.2343G>A (p.Arg781=) c.2409G>A (p.Arg803=) c.2406G>A (p.Arg802=) c.2379G>A (p.Arg793=) c.2325G>A (p.Arg775=) c.2298G>A (p.Arg766=) c.2283G>A (p.Arg761=) c.1890G>A (p.Arg630=) c.2352G>A (p.Arg784=) c.2289G>A (p.Arg763=) c.2286G>A (p.Arg762=) c.2244G>A (p.Arg748=) c.1317G>A (p.Arg439=) | |
20 | g.63406963C>A | CA409637926 | KCNQ2 | c.2354G>T (p.Arg785Leu) c.2300G>T (p.Arg767Leu) c.1697G>T (p.Arg566Leu) c.2207G>T (p.Arg736Leu) c.1868G>T (p.Arg623Leu) c.2216G>T (p.Arg739Leu) c.2241+83G>T (n.2241+83G>T) c.2205+83G>T (n.2205+83G>T) c.2246G>T (p.Arg749Leu) c.2133+83G>T (n.2133+83G>T) c.1680-6120G>T (n.1680-6120G>T) c.2342G>T (p.Arg781Leu) c.2408G>T (p.Arg803Leu) c.2405G>T (p.Arg802Leu) c.2378G>T (p.Arg793Leu) c.2324G>T (p.Arg775Leu) c.2297G>T (p.Arg766Leu) c.2282G>T (p.Arg761Leu) c.1889G>T (p.Arg630Leu) c.2351G>T (p.Arg784Leu) c.2288G>T (p.Arg763Leu) c.2285G>T (p.Arg762Leu) c.2243G>T (p.Arg748Leu) c.1316G>T (p.Arg439Leu) | |
20 | g.63406963C= | CA2374774336 | KCNQ2 | c.2354G= (p.Arg785=) c.2300G= (p.Arg767=) c.1697G= (p.Arg566=) c.2207G= (p.Arg736=) c.1868G= (p.Arg623=) c.2216G= (p.Arg739=) c.2241+83G= (n.2241+83G=) c.2205+83G= (n.2205+83G=) c.2246G= (p.Arg749=) c.2133+83G= (n.2133+83G=) c.1680-6120G= (n.1680-6120G=) c.2342G= (p.Arg781=) c.2408G= (p.Arg803=) c.2405G= (p.Arg802=) c.2378G= (p.Arg793=) c.2324G= (p.Arg775=) c.2297G= (p.Arg766=) c.2282G= (p.Arg761=) c.1889G= (p.Arg630=) c.2351G= (p.Arg784=) c.2288G= (p.Arg763=) c.2285G= (p.Arg762=) c.2243G= (p.Arg748=) c.1316G= (p.Arg439=) | |
20 | g.63406963C>G | CA409637929 | KCNQ2 | c.2354G>C (p.Arg785Pro) c.2300G>C (p.Arg767Pro) c.1697G>C (p.Arg566Pro) c.2207G>C (p.Arg736Pro) c.1868G>C (p.Arg623Pro) c.2216G>C (p.Arg739Pro) c.2241+83G>C (n.2241+83G>C) c.2205+83G>C (n.2205+83G>C) c.2246G>C (p.Arg749Pro) c.2133+83G>C (n.2133+83G>C) c.1680-6120G>C (n.1680-6120G>C) c.2342G>C (p.Arg781Pro) c.2408G>C (p.Arg803Pro) c.2405G>C (p.Arg802Pro) c.2378G>C (p.Arg793Pro) c.2324G>C (p.Arg775Pro) c.2297G>C (p.Arg766Pro) c.2282G>C (p.Arg761Pro) c.1889G>C (p.Arg630Pro) c.2351G>C (p.Arg784Pro) c.2288G>C (p.Arg763Pro) c.2285G>C (p.Arg762Pro) c.2243G>C (p.Arg748Pro) c.1316G>C (p.Arg439Pro) | gnomAD v4 |
20 | g.63406963C>T | CA9958105 | KCNQ2 | c.2354G>A (p.Arg785Gln) c.2300G>A (p.Arg767Gln) c.1697G>A (p.Arg566Gln) c.2207G>A (p.Arg736Gln) c.1868G>A (p.Arg623Gln) c.2216G>A (p.Arg739Gln) c.2241+83G>A (n.2241+83G>A) c.2205+83G>A (n.2205+83G>A) c.2246G>A (p.Arg749Gln) c.2133+83G>A (n.2133+83G>A) c.1680-6120G>A (n.1680-6120G>A) c.2342G>A (p.Arg781Gln) c.2408G>A (p.Arg803Gln) c.2405G>A (p.Arg802Gln) c.2378G>A (p.Arg793Gln) c.2324G>A (p.Arg775Gln) c.2297G>A (p.Arg766Gln) c.2282G>A (p.Arg761Gln) c.1889G>A (p.Arg630Gln) c.2351G>A (p.Arg784Gln) c.2288G>A (p.Arg763Gln) c.2285G>A (p.Arg762Gln) c.2243G>A (p.Arg748Gln) c.1316G>A (p.Arg439Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63406964G>A | CA9958106 | KCNQ2 | c.2353C>T (p.Arg785Trp) c.2299C>T (p.Arg767Trp) c.1696C>T (p.Arg566Trp) c.2206C>T (p.Arg736Trp) c.1867C>T (p.Arg623Trp) c.2215C>T (p.Arg739Trp) c.2241+82C>T (n.2241+82C>T) c.2205+82C>T (n.2205+82C>T) c.2245C>T (p.Arg749Trp) c.2133+82C>T (n.2133+82C>T) c.1680-6121C>T (n.1680-6121C>T) c.2341C>T (p.Arg781Trp) c.2407C>T (p.Arg803Trp) c.2404C>T (p.Arg802Trp) c.2377C>T (p.Arg793Trp) c.2323C>T (p.Arg775Trp) c.2296C>T (p.Arg766Trp) c.2281C>T (p.Arg761Trp) c.1888C>T (p.Arg630Trp) c.2350C>T (p.Arg784Trp) c.2287C>T (p.Arg763Trp) c.2284C>T (p.Arg762Trp) c.2242C>T (p.Arg748Trp) c.1315C>T (p.Arg439Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63406964G>C | CA409637934 | KCNQ2 | c.2353C>G (p.Arg785Gly) c.2299C>G (p.Arg767Gly) c.1696C>G (p.Arg566Gly) c.2206C>G (p.Arg736Gly) c.1867C>G (p.Arg623Gly) c.2215C>G (p.Arg739Gly) c.2241+82C>G (n.2241+82C>G) c.2205+82C>G (n.2205+82C>G) c.2245C>G (p.Arg749Gly) c.2133+82C>G (n.2133+82C>G) c.1680-6121C>G (n.1680-6121C>G) c.2341C>G (p.Arg781Gly) c.2407C>G (p.Arg803Gly) c.2404C>G (p.Arg802Gly) c.2377C>G (p.Arg793Gly) c.2323C>G (p.Arg775Gly) c.2296C>G (p.Arg766Gly) c.2281C>G (p.Arg761Gly) c.1888C>G (p.Arg630Gly) c.2350C>G (p.Arg784Gly) c.2287C>G (p.Arg763Gly) c.2284C>G (p.Arg762Gly) c.2242C>G (p.Arg748Gly) c.1315C>G (p.Arg439Gly) | |
20 | g.63406964G= | CA2374774337 | KCNQ2 | c.2353C= (p.Arg785=) c.2299C= (p.Arg767=) c.1696C= (p.Arg566=) c.2206C= (p.Arg736=) c.1867C= (p.Arg623=) c.2215C= (p.Arg739=) c.2241+82C= (n.2241+82C=) c.2205+82C= (n.2205+82C=) c.2245C= (p.Arg749=) c.2133+82C= (n.2133+82C=) c.1680-6121C= (n.1680-6121C=) c.2341C= (p.Arg781=) c.2407C= (p.Arg803=) c.2404C= (p.Arg802=) c.2377C= (p.Arg793=) c.2323C= (p.Arg775=) c.2296C= (p.Arg766=) c.2281C= (p.Arg761=) c.1888C= (p.Arg630=) c.2350C= (p.Arg784=) c.2287C= (p.Arg763=) c.2284C= (p.Arg762=) c.2242C= (p.Arg748=) c.1315C= (p.Arg439=) | |
20 | g.63406964G>T | CA511339335 | KCNQ2 | c.2353C>A (p.Arg785=) c.2299C>A (p.Arg767=) c.1696C>A (p.Arg566=) c.2206C>A (p.Arg736=) c.1867C>A (p.Arg623=) c.2215C>A (p.Arg739=) c.2241+82C>A (n.2241+82C>A) c.2205+82C>A (n.2205+82C>A) c.2245C>A (p.Arg749=) c.2133+82C>A (n.2133+82C>A) c.1680-6121C>A (n.1680-6121C>A) c.2341C>A (p.Arg781=) c.2407C>A (p.Arg803=) c.2404C>A (p.Arg802=) c.2377C>A (p.Arg793=) c.2323C>A (p.Arg775=) c.2296C>A (p.Arg766=) c.2281C>A (p.Arg761=) c.1888C>A (p.Arg630=) c.2350C>A (p.Arg784=) c.2287C>A (p.Arg763=) c.2284C>A (p.Arg762=) c.2242C>A (p.Arg748=) c.1315C>A (p.Arg439=) | |
20 | g.63406965C>A | CA511339336 | KCNQ2 | c.2352G>T (p.Leu784=) c.2298G>T (p.Leu766=) c.1695G>T (p.Leu565=) c.2205G>T (p.Leu735=) c.1866G>T (p.Leu622=) c.2214G>T (p.Leu738=) c.2241+81G>T (n.2241+81G>T) c.2205+81G>T (n.2205+81G>T) c.2244G>T (p.Leu748=) c.2133+81G>T (n.2133+81G>T) c.1680-6122G>T (n.1680-6122G>T) c.2340G>T (p.Leu780=) c.2406G>T (p.Leu802=) c.2403G>T (p.Leu801=) c.2376G>T (p.Leu792=) c.2322G>T (p.Leu774=) c.2295G>T (p.Leu765=) c.2280G>T (p.Leu760=) c.1887G>T (p.Leu629=) c.2349G>T (p.Leu783=) c.2286G>T (p.Leu762=) c.2283G>T (p.Leu761=) c.2241G>T (p.Leu747=) c.1314G>T (p.Leu438=) | gnomAD v4 |
20 | g.63406965C= | CA2374774338 | KCNQ2 | c.2352G= (p.Leu784=) c.2298G= (p.Leu766=) c.1695G= (p.Leu565=) c.2205G= (p.Leu735=) c.1866G= (p.Leu622=) c.2214G= (p.Leu738=) c.2241+81G= (n.2241+81G=) c.2205+81G= (n.2205+81G=) c.2244G= (p.Leu748=) c.2133+81G= (n.2133+81G=) c.1680-6122G= (n.1680-6122G=) c.2340G= (p.Leu780=) c.2406G= (p.Leu802=) c.2403G= (p.Leu801=) c.2376G= (p.Leu792=) c.2322G= (p.Leu774=) c.2295G= (p.Leu765=) c.2280G= (p.Leu760=) c.1887G= (p.Leu629=) c.2349G= (p.Leu783=) c.2286G= (p.Leu762=) c.2283G= (p.Leu761=) c.2241G= (p.Leu747=) c.1314G= (p.Leu438=) | |
20 | g.63406965C>G | CA317421961 | KCNQ2 | c.2352G>C (p.Leu784=) c.2298G>C (p.Leu766=) c.1695G>C (p.Leu565=) c.2205G>C (p.Leu735=) c.1866G>C (p.Leu622=) c.2214G>C (p.Leu738=) c.2241+81G>C (n.2241+81G>C) c.2205+81G>C (n.2205+81G>C) c.2244G>C (p.Leu748=) c.2133+81G>C (n.2133+81G>C) c.1680-6122G>C (n.1680-6122G>C) c.2340G>C (p.Leu780=) c.2406G>C (p.Leu802=) c.2403G>C (p.Leu801=) c.2376G>C (p.Leu792=) c.2322G>C (p.Leu774=) c.2295G>C (p.Leu765=) c.2280G>C (p.Leu760=) c.1887G>C (p.Leu629=) c.2349G>C (p.Leu783=) c.2286G>C (p.Leu762=) c.2283G>C (p.Leu761=) c.2241G>C (p.Leu747=) c.1314G>C (p.Leu438=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.63406965C>T | CA511339337 | KCNQ2 | c.2352G>A (p.Leu784=) c.2298G>A (p.Leu766=) c.1695G>A (p.Leu565=) c.2205G>A (p.Leu735=) c.1866G>A (p.Leu622=) c.2214G>A (p.Leu738=) c.2241+81G>A (n.2241+81G>A) c.2205+81G>A (n.2205+81G>A) c.2244G>A (p.Leu748=) c.2133+81G>A (n.2133+81G>A) c.1680-6122G>A (n.1680-6122G>A) c.2340G>A (p.Leu780=) c.2406G>A (p.Leu802=) c.2403G>A (p.Leu801=) c.2376G>A (p.Leu792=) c.2322G>A (p.Leu774=) c.2295G>A (p.Leu765=) c.2280G>A (p.Leu760=) c.1887G>A (p.Leu629=) c.2349G>A (p.Leu783=) c.2286G>A (p.Leu762=) c.2283G>A (p.Leu761=) c.2241G>A (p.Leu747=) c.1314G>A (p.Leu438=) | dbSNP gnomAD v4 |
20 | g.63406966A>C | CA409637937 | KCNQ2 | c.2351T>G (p.Leu784Arg) c.2297T>G (p.Leu766Arg) c.1694T>G (p.Leu565Arg) c.2204T>G (p.Leu735Arg) c.1865T>G (p.Leu622Arg) c.2213T>G (p.Leu738Arg) c.2241+80T>G (n.2241+80T>G) c.2205+80T>G (n.2205+80T>G) c.2243T>G (p.Leu748Arg) c.2133+80T>G (n.2133+80T>G) c.1680-6123T>G (n.1680-6123T>G) c.2339T>G (p.Leu780Arg) c.2405T>G (p.Leu802Arg) c.2402T>G (p.Leu801Arg) c.2375T>G (p.Leu792Arg) c.2321T>G (p.Leu774Arg) c.2294T>G (p.Leu765Arg) c.2279T>G (p.Leu760Arg) c.1886T>G (p.Leu629Arg) c.2348T>G (p.Leu783Arg) c.2285T>G (p.Leu762Arg) c.2282T>G (p.Leu761Arg) c.2240T>G (p.Leu747Arg) c.1313T>G (p.Leu438Arg) | |
20 | g.63406966A>G | CA409637939 | KCNQ2 | c.2351T>C (p.Leu784Pro) c.2297T>C (p.Leu766Pro) c.1694T>C (p.Leu565Pro) c.2204T>C (p.Leu735Pro) c.1865T>C (p.Leu622Pro) c.2213T>C (p.Leu738Pro) c.2241+80T>C (n.2241+80T>C) c.2205+80T>C (n.2205+80T>C) c.2243T>C (p.Leu748Pro) c.2133+80T>C (n.2133+80T>C) c.1680-6123T>C (n.1680-6123T>C) c.2339T>C (p.Leu780Pro) c.2405T>C (p.Leu802Pro) c.2402T>C (p.Leu801Pro) c.2375T>C (p.Leu792Pro) c.2321T>C (p.Leu774Pro) c.2294T>C (p.Leu765Pro) c.2279T>C (p.Leu760Pro) c.1886T>C (p.Leu629Pro) c.2348T>C (p.Leu783Pro) c.2285T>C (p.Leu762Pro) c.2282T>C (p.Leu761Pro) c.2240T>C (p.Leu747Pro) c.1313T>C (p.Leu438Pro) | |
20 | g.63406966A>T | CA409637943 | KCNQ2 | c.2351T>A (p.Leu784Gln) c.2297T>A (p.Leu766Gln) c.1694T>A (p.Leu565Gln) c.2204T>A (p.Leu735Gln) c.1865T>A (p.Leu622Gln) c.2213T>A (p.Leu738Gln) c.2241+80T>A (n.2241+80T>A) c.2205+80T>A (n.2205+80T>A) c.2243T>A (p.Leu748Gln) c.2133+80T>A (n.2133+80T>A) c.1680-6123T>A (n.1680-6123T>A) c.2339T>A (p.Leu780Gln) c.2405T>A (p.Leu802Gln) c.2402T>A (p.Leu801Gln) c.2375T>A (p.Leu792Gln) c.2321T>A (p.Leu774Gln) c.2294T>A (p.Leu765Gln) c.2279T>A (p.Leu760Gln) c.1886T>A (p.Leu629Gln) c.2348T>A (p.Leu783Gln) c.2285T>A (p.Leu762Gln) c.2282T>A (p.Leu761Gln) c.2240T>A (p.Leu747Gln) c.1313T>A (p.Leu438Gln) | |
20 | g.63406966_63406967delinsAG | CA2374774339 | KCNQ2 | c.2350_2351delinsCT (p.Leu784=) c.2296_2297delinsCT (p.Leu766=) c.1693_1694delinsCT (p.Leu565=) c.2203_2204delinsCT (p.Leu735=) c.1864_1865delinsCT (p.Leu622=) c.2212_2213delinsCT (p.Leu738=) c.2241+79_2241+80delinsCT (n.2241+79_2241+80delinsCT) c.2205+79_2205+80delinsCT (n.2205+79_2205+80delinsCT) c.2242_2243delinsCT (p.Leu748=) c.2133+79_2133+80delinsCT (n.2133+79_2133+80delinsCT) c.1680-6124_1680-6123delinsCT (n.1680-6124_1680-6123delinsCT) c.2338_2339delinsCT (p.Leu780=) c.2404_2405delinsCT (p.Leu802=) c.2401_2402delinsCT (p.Leu801=) c.2374_2375delinsCT (p.Leu792=) c.2320_2321delinsCT (p.Leu774=) c.2293_2294delinsCT (p.Leu765=) c.2278_2279delinsCT (p.Leu760=) c.1885_1886delinsCT (p.Leu629=) c.2347_2348delinsCT (p.Leu783=) c.2284_2285delinsCT (p.Leu762=) c.2281_2282delinsCT (p.Leu761=) c.2239_2240delinsCT (p.Leu747=) c.1312_1313delinsCT (p.Leu438=) | |
20 | g.63406967G>A | CA511339339 | KCNQ2 | c.2350C>T (p.Leu784=) c.2296C>T (p.Leu766=) c.1693C>T (p.Leu565=) c.2203C>T (p.Leu735=) c.1864C>T (p.Leu622=) c.2212C>T (p.Leu738=) c.2241+79C>T (n.2241+79C>T) c.2205+79C>T (n.2205+79C>T) c.2242C>T (p.Leu748=) c.2133+79C>T (n.2133+79C>T) c.1680-6124C>T (n.1680-6124C>T) c.2338C>T (p.Leu780=) c.2404C>T (p.Leu802=) c.2401C>T (p.Leu801=) c.2374C>T (p.Leu792=) c.2320C>T (p.Leu774=) c.2293C>T (p.Leu765=) c.2278C>T (p.Leu760=) c.1885C>T (p.Leu629=) c.2347C>T (p.Leu783=) c.2284C>T (p.Leu762=) c.2281C>T (p.Leu761=) c.2239C>T (p.Leu747=) c.1312C>T (p.Leu438=) | gnomAD v4 |
20 | g.63406967G>C | CA409637950 | KCNQ2 | c.2350C>G (p.Leu784Val) c.2296C>G (p.Leu766Val) c.1693C>G (p.Leu565Val) c.2203C>G (p.Leu735Val) c.1864C>G (p.Leu622Val) c.2212C>G (p.Leu738Val) c.2241+79C>G (n.2241+79C>G) c.2205+79C>G (n.2205+79C>G) c.2242C>G (p.Leu748Val) c.2133+79C>G (n.2133+79C>G) c.1680-6124C>G (n.1680-6124C>G) c.2338C>G (p.Leu780Val) c.2404C>G (p.Leu802Val) c.2401C>G (p.Leu801Val) c.2374C>G (p.Leu792Val) c.2320C>G (p.Leu774Val) c.2293C>G (p.Leu765Val) c.2278C>G (p.Leu760Val) c.1885C>G (p.Leu629Val) c.2347C>G (p.Leu783Val) c.2284C>G (p.Leu762Val) c.2281C>G (p.Leu761Val) c.2239C>G (p.Leu747Val) c.1312C>G (p.Leu438Val) | |
20 | g.63406967G>T | CA409637948 | KCNQ2 | c.2350C>A (p.Leu784Met) c.2296C>A (p.Leu766Met) c.1693C>A (p.Leu565Met) c.2203C>A (p.Leu735Met) c.1864C>A (p.Leu622Met) c.2212C>A (p.Leu738Met) c.2241+79C>A (n.2241+79C>A) c.2205+79C>A (n.2205+79C>A) c.2242C>A (p.Leu748Met) c.2133+79C>A (n.2133+79C>A) c.1680-6124C>A (n.1680-6124C>A) c.2338C>A (p.Leu780Met) c.2404C>A (p.Leu802Met) c.2401C>A (p.Leu801Met) c.2374C>A (p.Leu792Met) c.2320C>A (p.Leu774Met) c.2293C>A (p.Leu765Met) c.2278C>A (p.Leu760Met) c.1885C>A (p.Leu629Met) c.2347C>A (p.Leu783Met) c.2284C>A (p.Leu762Met) c.2281C>A (p.Leu761Met) c.2239C>A (p.Leu747Met) c.1312C>A (p.Leu438Met) | gnomAD v4 |
20 | g.63406968del | CA16043701 | KCNQ2 | c.2350del (p.Leu784CysfsTer?) c.2296del (p.Leu766CysfsTer?) c.1693del (p.Leu565CysfsTer?) c.2203del (p.Leu735CysfsTer?) c.1864del (p.Leu622CysfsTer?) c.2212del (p.Leu738CysfsTer?) c.2241+79del (n.2241+79del) c.2205+79del (n.2205+79del) c.2242del (p.Leu748CysfsTer?) c.2133+79del (n.2133+79del) c.1680-6124del (n.1680-6124del) c.2338del (p.Leu780CysfsTer?) c.2404del (p.Leu802CysfsTer?) c.2401del (p.Leu801CysfsTer?) c.2374del (p.Leu792CysfsTer?) c.2320del (p.Leu774CysfsTer?) c.2293del (p.Leu765CysfsTer?) c.2278del (p.Leu760CysfsTer?) c.1885del (p.Leu629CysfsTer?) c.2347del (p.Leu783CysfsTer?) c.2284del (p.Leu762CysfsTer?) c.2281del (p.Leu761CysfsTer?) c.2239del (p.Leu747CysfsTer?) c.1312del (p.Leu438CysfsTer?) | ClinVar dbSNP |
20 | g.63406968G>A | CA317421962 | KCNQ2 | c.2349C>T (p.Phe783=) c.2295C>T (p.Phe765=) c.1692C>T (p.Phe564=) c.2202C>T (p.Phe734=) c.1863C>T (p.Phe621=) c.2211C>T (p.Phe737=) c.2241+78C>T (n.2241+78C>T) c.2205+78C>T (n.2205+78C>T) c.2241C>T (p.Phe747=) c.2133+78C>T (n.2133+78C>T) c.1680-6125C>T (n.1680-6125C>T) c.2337C>T (p.Phe779=) c.2403C>T (p.Phe801=) c.2400C>T (p.Phe800=) c.2373C>T (p.Phe791=) c.2319C>T (p.Phe773=) c.2292C>T (p.Phe764=) c.2277C>T (p.Phe759=) c.1884C>T (p.Phe628=) c.2346C>T (p.Phe782=) c.2283C>T (p.Phe761=) c.2280C>T (p.Phe760=) c.2238C>T (p.Phe746=) c.1311C>T (p.Phe437=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406968G>C | CA409637952 | KCNQ2 | c.2349C>G (p.Phe783Leu) c.2295C>G (p.Phe765Leu) c.1692C>G (p.Phe564Leu) c.2202C>G (p.Phe734Leu) c.1863C>G (p.Phe621Leu) c.2211C>G (p.Phe737Leu) c.2241+78C>G (n.2241+78C>G) c.2205+78C>G (n.2205+78C>G) c.2241C>G (p.Phe747Leu) c.2133+78C>G (n.2133+78C>G) c.1680-6125C>G (n.1680-6125C>G) c.2337C>G (p.Phe779Leu) c.2403C>G (p.Phe801Leu) c.2400C>G (p.Phe800Leu) c.2373C>G (p.Phe791Leu) c.2319C>G (p.Phe773Leu) c.2292C>G (p.Phe764Leu) c.2277C>G (p.Phe759Leu) c.1884C>G (p.Phe628Leu) c.2346C>G (p.Phe782Leu) c.2283C>G (p.Phe761Leu) c.2280C>G (p.Phe760Leu) c.2238C>G (p.Phe746Leu) c.1311C>G (p.Phe437Leu) | |
20 | g.63406968G= | CA2374774340 | KCNQ2 | c.2349C= (p.Phe783=) c.2295C= (p.Phe765=) c.1692C= (p.Phe564=) c.2202C= (p.Phe734=) c.1863C= (p.Phe621=) c.2211C= (p.Phe737=) c.2241+78C= (n.2241+78C=) c.2205+78C= (n.2205+78C=) c.2241C= (p.Phe747=) c.2133+78C= (n.2133+78C=) c.1680-6125C= (n.1680-6125C=) c.2337C= (p.Phe779=) c.2403C= (p.Phe801=) c.2400C= (p.Phe800=) c.2373C= (p.Phe791=) c.2319C= (p.Phe773=) c.2292C= (p.Phe764=) c.2277C= (p.Phe759=) c.1884C= (p.Phe628=) c.2346C= (p.Phe782=) c.2283C= (p.Phe761=) c.2280C= (p.Phe760=) c.2238C= (p.Phe746=) c.1311C= (p.Phe437=) | |
20 | g.63406968G>T | CA409637958 | KCNQ2 | c.2349C>A (p.Phe783Leu) c.2295C>A (p.Phe765Leu) c.1692C>A (p.Phe564Leu) c.2202C>A (p.Phe734Leu) c.1863C>A (p.Phe621Leu) c.2211C>A (p.Phe737Leu) c.2241+78C>A (n.2241+78C>A) c.2205+78C>A (n.2205+78C>A) c.2241C>A (p.Phe747Leu) c.2133+78C>A (n.2133+78C>A) c.1680-6125C>A (n.1680-6125C>A) c.2337C>A (p.Phe779Leu) c.2403C>A (p.Phe801Leu) c.2400C>A (p.Phe800Leu) c.2373C>A (p.Phe791Leu) c.2319C>A (p.Phe773Leu) c.2292C>A (p.Phe764Leu) c.2277C>A (p.Phe759Leu) c.1884C>A (p.Phe628Leu) c.2346C>A (p.Phe782Leu) c.2283C>A (p.Phe761Leu) c.2280C>A (p.Phe760Leu) c.2238C>A (p.Phe746Leu) c.1311C>A (p.Phe437Leu) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406969A>C | CA409637961 | KCNQ2 | c.2348T>G (p.Phe783Cys) c.2294T>G (p.Phe765Cys) c.1691T>G (p.Phe564Cys) c.2201T>G (p.Phe734Cys) c.1862T>G (p.Phe621Cys) c.2210T>G (p.Phe737Cys) c.2241+77T>G (n.2241+77T>G) c.2205+77T>G (n.2205+77T>G) c.2240T>G (p.Phe747Cys) c.2133+77T>G (n.2133+77T>G) c.1680-6126T>G (n.1680-6126T>G) c.2336T>G (p.Phe779Cys) c.2402T>G (p.Phe801Cys) c.2399T>G (p.Phe800Cys) c.2372T>G (p.Phe791Cys) c.2318T>G (p.Phe773Cys) c.2291T>G (p.Phe764Cys) c.2276T>G (p.Phe759Cys) c.1883T>G (p.Phe628Cys) c.2345T>G (p.Phe782Cys) c.2282T>G (p.Phe761Cys) c.2279T>G (p.Phe760Cys) c.2237T>G (p.Phe746Cys) c.1310T>G (p.Phe437Cys) | |
20 | g.63406969A>G | CA409637964 | KCNQ2 | c.2348T>C (p.Phe783Ser) c.2294T>C (p.Phe765Ser) c.1691T>C (p.Phe564Ser) c.2201T>C (p.Phe734Ser) c.1862T>C (p.Phe621Ser) c.2210T>C (p.Phe737Ser) c.2241+77T>C (n.2241+77T>C) c.2205+77T>C (n.2205+77T>C) c.2240T>C (p.Phe747Ser) c.2133+77T>C (n.2133+77T>C) c.1680-6126T>C (n.1680-6126T>C) c.2336T>C (p.Phe779Ser) c.2402T>C (p.Phe801Ser) c.2399T>C (p.Phe800Ser) c.2372T>C (p.Phe791Ser) c.2318T>C (p.Phe773Ser) c.2291T>C (p.Phe764Ser) c.2276T>C (p.Phe759Ser) c.1883T>C (p.Phe628Ser) c.2345T>C (p.Phe782Ser) c.2282T>C (p.Phe761Ser) c.2279T>C (p.Phe760Ser) c.2237T>C (p.Phe746Ser) c.1310T>C (p.Phe437Ser) | |
20 | g.63406969A>T | CA409637963 | KCNQ2 | c.2348T>A (p.Phe783Tyr) c.2294T>A (p.Phe765Tyr) c.1691T>A (p.Phe564Tyr) c.2201T>A (p.Phe734Tyr) c.1862T>A (p.Phe621Tyr) c.2210T>A (p.Phe737Tyr) c.2241+77T>A (n.2241+77T>A) c.2205+77T>A (n.2205+77T>A) c.2240T>A (p.Phe747Tyr) c.2133+77T>A (n.2133+77T>A) c.1680-6126T>A (n.1680-6126T>A) c.2336T>A (p.Phe779Tyr) c.2402T>A (p.Phe801Tyr) c.2399T>A (p.Phe800Tyr) c.2372T>A (p.Phe791Tyr) c.2318T>A (p.Phe773Tyr) c.2291T>A (p.Phe764Tyr) c.2276T>A (p.Phe759Tyr) c.1883T>A (p.Phe628Tyr) c.2345T>A (p.Phe782Tyr) c.2282T>A (p.Phe761Tyr) c.2279T>A (p.Phe760Tyr) c.2237T>A (p.Phe746Tyr) c.1310T>A (p.Phe437Tyr) | |
20 | g.63406970A>C | CA409637965 | KCNQ2 | c.2347T>G (p.Phe783Val) c.2293T>G (p.Phe765Val) c.1690T>G (p.Phe564Val) c.2200T>G (p.Phe734Val) c.1861T>G (p.Phe621Val) c.2209T>G (p.Phe737Val) c.2241+76T>G (n.2241+76T>G) c.2205+76T>G (n.2205+76T>G) c.2239T>G (p.Phe747Val) c.2133+76T>G (n.2133+76T>G) c.1680-6127T>G (n.1680-6127T>G) c.2335T>G (p.Phe779Val) c.2401T>G (p.Phe801Val) c.2398T>G (p.Phe800Val) c.2371T>G (p.Phe791Val) c.2317T>G (p.Phe773Val) c.2290T>G (p.Phe764Val) c.2275T>G (p.Phe759Val) c.1882T>G (p.Phe628Val) c.2344T>G (p.Phe782Val) c.2281T>G (p.Phe761Val) c.2278T>G (p.Phe760Val) c.2236T>G (p.Phe746Val) c.1309T>G (p.Phe437Val) | |
20 | g.63406970A>G | CA409637966 | KCNQ2 | c.2347T>C (p.Phe783Leu) c.2293T>C (p.Phe765Leu) c.1690T>C (p.Phe564Leu) c.2200T>C (p.Phe734Leu) c.1861T>C (p.Phe621Leu) c.2209T>C (p.Phe737Leu) c.2241+76T>C (n.2241+76T>C) c.2205+76T>C (n.2205+76T>C) c.2239T>C (p.Phe747Leu) c.2133+76T>C (n.2133+76T>C) c.1680-6127T>C (n.1680-6127T>C) c.2335T>C (p.Phe779Leu) c.2401T>C (p.Phe801Leu) c.2398T>C (p.Phe800Leu) c.2371T>C (p.Phe791Leu) c.2317T>C (p.Phe773Leu) c.2290T>C (p.Phe764Leu) c.2275T>C (p.Phe759Leu) c.1882T>C (p.Phe628Leu) c.2344T>C (p.Phe782Leu) c.2281T>C (p.Phe761Leu) c.2278T>C (p.Phe760Leu) c.2236T>C (p.Phe746Leu) c.1309T>C (p.Phe437Leu) | |
20 | g.63406970A>T | CA409637967 | KCNQ2 | c.2347T>A (p.Phe783Ile) c.2293T>A (p.Phe765Ile) c.1690T>A (p.Phe564Ile) c.2200T>A (p.Phe734Ile) c.1861T>A (p.Phe621Ile) c.2209T>A (p.Phe737Ile) c.2241+76T>A (n.2241+76T>A) c.2205+76T>A (n.2205+76T>A) c.2239T>A (p.Phe747Ile) c.2133+76T>A (n.2133+76T>A) c.1680-6127T>A (n.1680-6127T>A) c.2335T>A (p.Phe779Ile) c.2401T>A (p.Phe801Ile) c.2398T>A (p.Phe800Ile) c.2371T>A (p.Phe791Ile) c.2317T>A (p.Phe773Ile) c.2290T>A (p.Phe764Ile) c.2275T>A (p.Phe759Ile) c.1882T>A (p.Phe628Ile) c.2344T>A (p.Phe782Ile) c.2281T>A (p.Phe761Ile) c.2278T>A (p.Phe760Ile) c.2236T>A (p.Phe746Ile) c.1309T>A (p.Phe437Ile) | |
20 | g.63406971C>A | CA409637969 | KCNQ2 | c.2346G>T (p.Glu782Asp) c.2292G>T (p.Glu764Asp) c.1689G>T (p.Glu563Asp) c.2199G>T (p.Glu733Asp) c.1860G>T (p.Glu620Asp) c.2208G>T (p.Glu736Asp) c.2241+75G>T (n.2241+75G>T) c.2205+75G>T (n.2205+75G>T) c.2238G>T (p.Glu746Asp) c.2133+75G>T (n.2133+75G>T) c.1680-6128G>T (n.1680-6128G>T) c.2334G>T (p.Glu778Asp) c.2400G>T (p.Glu800Asp) c.2397G>T (p.Glu799Asp) c.2370G>T (p.Glu790Asp) c.2316G>T (p.Glu772Asp) c.2289G>T (p.Glu763Asp) c.2274G>T (p.Glu758Asp) c.1881G>T (p.Glu627Asp) c.2343G>T (p.Glu781Asp) c.2280G>T (p.Glu760Asp) c.2277G>T (p.Glu759Asp) c.2235G>T (p.Glu745Asp) c.1308G>T (p.Glu436Asp) | |
20 | g.63406971C>G | CA409637971 | KCNQ2 | c.2346G>C (p.Glu782Asp) c.2292G>C (p.Glu764Asp) c.1689G>C (p.Glu563Asp) c.2199G>C (p.Glu733Asp) c.1860G>C (p.Glu620Asp) c.2208G>C (p.Glu736Asp) c.2241+75G>C (n.2241+75G>C) c.2205+75G>C (n.2205+75G>C) c.2238G>C (p.Glu746Asp) c.2133+75G>C (n.2133+75G>C) c.1680-6128G>C (n.1680-6128G>C) c.2334G>C (p.Glu778Asp) c.2400G>C (p.Glu800Asp) c.2397G>C (p.Glu799Asp) c.2370G>C (p.Glu790Asp) c.2316G>C (p.Glu772Asp) c.2289G>C (p.Glu763Asp) c.2274G>C (p.Glu758Asp) c.1881G>C (p.Glu627Asp) c.2343G>C (p.Glu781Asp) c.2280G>C (p.Glu760Asp) c.2277G>C (p.Glu759Asp) c.2235G>C (p.Glu745Asp) c.1308G>C (p.Glu436Asp) | |
20 | g.63406971C>T | CA511339346 | KCNQ2 | c.2346G>A (p.Glu782=) c.2292G>A (p.Glu764=) c.1689G>A (p.Glu563=) c.2199G>A (p.Glu733=) c.1860G>A (p.Glu620=) c.2208G>A (p.Glu736=) c.2241+75G>A (n.2241+75G>A) c.2205+75G>A (n.2205+75G>A) c.2238G>A (p.Glu746=) c.2133+75G>A (n.2133+75G>A) c.1680-6128G>A (n.1680-6128G>A) c.2334G>A (p.Glu778=) c.2400G>A (p.Glu800=) c.2397G>A (p.Glu799=) c.2370G>A (p.Glu790=) c.2316G>A (p.Glu772=) c.2289G>A (p.Glu763=) c.2274G>A (p.Glu758=) c.1881G>A (p.Glu627=) c.2343G>A (p.Glu781=) c.2280G>A (p.Glu760=) c.2277G>A (p.Glu759=) c.2235G>A (p.Glu745=) c.1308G>A (p.Glu436=) | gnomAD v4 |
20 | g.63406972T>A | CA409637974 | KCNQ2 | c.2345A>T (p.Glu782Val) c.2291A>T (p.Glu764Val) c.1688A>T (p.Glu563Val) c.2198A>T (p.Glu733Val) c.1859A>T (p.Glu620Val) c.2207A>T (p.Glu736Val) c.2241+74A>T (n.2241+74A>T) c.2205+74A>T (n.2205+74A>T) c.2237A>T (p.Glu746Val) c.2133+74A>T (n.2133+74A>T) c.1680-6129A>T (n.1680-6129A>T) c.2333A>T (p.Glu778Val) c.2399A>T (p.Glu800Val) c.2396A>T (p.Glu799Val) c.2369A>T (p.Glu790Val) c.2315A>T (p.Glu772Val) c.2288A>T (p.Glu763Val) c.2273A>T (p.Glu758Val) c.1880A>T (p.Glu627Val) c.2342A>T (p.Glu781Val) c.2279A>T (p.Glu760Val) c.2276A>T (p.Glu759Val) c.2234A>T (p.Glu745Val) c.1307A>T (p.Glu436Val) | |
20 | g.63406972T>C | CA409637976 | KCNQ2 | c.2345A>G (p.Glu782Gly) c.2291A>G (p.Glu764Gly) c.1688A>G (p.Glu563Gly) c.2198A>G (p.Glu733Gly) c.1859A>G (p.Glu620Gly) c.2207A>G (p.Glu736Gly) c.2241+74A>G (n.2241+74A>G) c.2205+74A>G (n.2205+74A>G) c.2237A>G (p.Glu746Gly) c.2133+74A>G (n.2133+74A>G) c.1680-6129A>G (n.1680-6129A>G) c.2333A>G (p.Glu778Gly) c.2399A>G (p.Glu800Gly) c.2396A>G (p.Glu799Gly) c.2369A>G (p.Glu790Gly) c.2315A>G (p.Glu772Gly) c.2288A>G (p.Glu763Gly) c.2273A>G (p.Glu758Gly) c.1880A>G (p.Glu627Gly) c.2342A>G (p.Glu781Gly) c.2279A>G (p.Glu760Gly) c.2276A>G (p.Glu759Gly) c.2234A>G (p.Glu745Gly) c.1307A>G (p.Glu436Gly) | gnomAD v4 |
20 | g.63406972T>G | CA409637978 | KCNQ2 | c.2345A>C (p.Glu782Ala) c.2291A>C (p.Glu764Ala) c.1688A>C (p.Glu563Ala) c.2198A>C (p.Glu733Ala) c.1859A>C (p.Glu620Ala) c.2207A>C (p.Glu736Ala) c.2241+74A>C (n.2241+74A>C) c.2205+74A>C (n.2205+74A>C) c.2237A>C (p.Glu746Ala) c.2133+74A>C (n.2133+74A>C) c.1680-6129A>C (n.1680-6129A>C) c.2333A>C (p.Glu778Ala) c.2399A>C (p.Glu800Ala) c.2396A>C (p.Glu799Ala) c.2369A>C (p.Glu790Ala) c.2315A>C (p.Glu772Ala) c.2288A>C (p.Glu763Ala) c.2273A>C (p.Glu758Ala) c.1880A>C (p.Glu627Ala) c.2342A>C (p.Glu781Ala) c.2279A>C (p.Glu760Ala) c.2276A>C (p.Glu759Ala) c.2234A>C (p.Glu745Ala) c.1307A>C (p.Glu436Ala) | |
20 | g.63406973C>A | CA409637979 | KCNQ2 | c.2344G>T (p.Glu782Ter) c.2290G>T (p.Glu764Ter) c.1687G>T (p.Glu563Ter) c.2197G>T (p.Glu733Ter) c.1858G>T (p.Glu620Ter) c.2206G>T (p.Glu736Ter) c.2241+73G>T (n.2241+73G>T) c.2205+73G>T (n.2205+73G>T) c.2236G>T (p.Glu746Ter) c.2133+73G>T (n.2133+73G>T) c.1680-6130G>T (n.1680-6130G>T) c.2332G>T (p.Glu778Ter) c.2398G>T (p.Glu800Ter) c.2395G>T (p.Glu799Ter) c.2368G>T (p.Glu790Ter) c.2314G>T (p.Glu772Ter) c.2287G>T (p.Glu763Ter) c.2272G>T (p.Glu758Ter) c.1879G>T (p.Glu627Ter) c.2341G>T (p.Glu781Ter) c.2278G>T (p.Glu760Ter) c.2275G>T (p.Glu759Ter) c.2233G>T (p.Glu745Ter) c.1306G>T (p.Glu436Ter) | gnomAD v4 |
20 | g.63406973C>G | CA409637981 | KCNQ2 | c.2344G>C (p.Glu782Gln) c.2290G>C (p.Glu764Gln) c.1687G>C (p.Glu563Gln) c.2197G>C (p.Glu733Gln) c.1858G>C (p.Glu620Gln) c.2206G>C (p.Glu736Gln) c.2241+73G>C (n.2241+73G>C) c.2205+73G>C (n.2205+73G>C) c.2236G>C (p.Glu746Gln) c.2133+73G>C (n.2133+73G>C) c.1680-6130G>C (n.1680-6130G>C) c.2332G>C (p.Glu778Gln) c.2398G>C (p.Glu800Gln) c.2395G>C (p.Glu799Gln) c.2368G>C (p.Glu790Gln) c.2314G>C (p.Glu772Gln) c.2287G>C (p.Glu763Gln) c.2272G>C (p.Glu758Gln) c.1879G>C (p.Glu627Gln) c.2341G>C (p.Glu781Gln) c.2278G>C (p.Glu760Gln) c.2275G>C (p.Glu759Gln) c.2233G>C (p.Glu745Gln) c.1306G>C (p.Glu436Gln) | |
20 | g.63406973C>T | CA409637984 | KCNQ2 | c.2344G>A (p.Glu782Lys) c.2290G>A (p.Glu764Lys) c.1687G>A (p.Glu563Lys) c.2197G>A (p.Glu733Lys) c.1858G>A (p.Glu620Lys) c.2206G>A (p.Glu736Lys) c.2241+73G>A (n.2241+73G>A) c.2205+73G>A (n.2205+73G>A) c.2236G>A (p.Glu746Lys) c.2133+73G>A (n.2133+73G>A) c.1680-6130G>A (n.1680-6130G>A) c.2332G>A (p.Glu778Lys) c.2398G>A (p.Glu800Lys) c.2395G>A (p.Glu799Lys) c.2368G>A (p.Glu790Lys) c.2314G>A (p.Glu772Lys) c.2287G>A (p.Glu763Lys) c.2272G>A (p.Glu758Lys) c.1879G>A (p.Glu627Lys) c.2341G>A (p.Glu781Lys) c.2278G>A (p.Glu760Lys) c.2275G>A (p.Glu759Lys) c.2233G>A (p.Glu745Lys) c.1306G>A (p.Glu436Lys) | |
20 | g.63406974C>A | CA409637992 | KCNQ2 | c.2343G>T (p.Met781Ile) c.2289G>T (p.Met763Ile) c.1686G>T (p.Met562Ile) c.2196G>T (p.Met732Ile) c.1857G>T (p.Met619Ile) c.2205G>T (p.Met735Ile) c.2241+72G>T (n.2241+72G>T) c.2205+72G>T (n.2205+72G>T) c.2235G>T (p.Met745Ile) c.2133+72G>T (n.2133+72G>T) c.1680-6131G>T (n.1680-6131G>T) c.2331G>T (p.Met777Ile) c.2397G>T (p.Met799Ile) c.2394G>T (p.Met798Ile) c.2367G>T (p.Met789Ile) c.2313G>T (p.Met771Ile) c.2286G>T (p.Met762Ile) c.2271G>T (p.Met757Ile) c.1878G>T (p.Met626Ile) c.2340G>T (p.Met780Ile) c.2277G>T (p.Met759Ile) c.2274G>T (p.Met758Ile) c.2232G>T (p.Met744Ile) c.1305G>T (p.Met435Ile) | |
20 | g.63406974C>G | CA409637989 | KCNQ2 | c.2343G>C (p.Met781Ile) c.2289G>C (p.Met763Ile) c.1686G>C (p.Met562Ile) c.2196G>C (p.Met732Ile) c.1857G>C (p.Met619Ile) c.2205G>C (p.Met735Ile) c.2241+72G>C (n.2241+72G>C) c.2205+72G>C (n.2205+72G>C) c.2235G>C (p.Met745Ile) c.2133+72G>C (n.2133+72G>C) c.1680-6131G>C (n.1680-6131G>C) c.2331G>C (p.Met777Ile) c.2397G>C (p.Met799Ile) c.2394G>C (p.Met798Ile) c.2367G>C (p.Met789Ile) c.2313G>C (p.Met771Ile) c.2286G>C (p.Met762Ile) c.2271G>C (p.Met757Ile) c.1878G>C (p.Met626Ile) c.2340G>C (p.Met780Ile) c.2277G>C (p.Met759Ile) c.2274G>C (p.Met758Ile) c.2232G>C (p.Met744Ile) c.1305G>C (p.Met435Ile) | |
20 | g.63406974C>T | CA409637986 | KCNQ2 | c.2343G>A (p.Met781Ile) c.2289G>A (p.Met763Ile) c.1686G>A (p.Met562Ile) c.2196G>A (p.Met732Ile) c.1857G>A (p.Met619Ile) c.2205G>A (p.Met735Ile) c.2241+72G>A (n.2241+72G>A) c.2205+72G>A (n.2205+72G>A) c.2235G>A (p.Met745Ile) c.2133+72G>A (n.2133+72G>A) c.1680-6131G>A (n.1680-6131G>A) c.2331G>A (p.Met777Ile) c.2397G>A (p.Met799Ile) c.2394G>A (p.Met798Ile) c.2367G>A (p.Met789Ile) c.2313G>A (p.Met771Ile) c.2286G>A (p.Met762Ile) c.2271G>A (p.Met757Ile) c.1878G>A (p.Met626Ile) c.2340G>A (p.Met780Ile) c.2277G>A (p.Met759Ile) c.2274G>A (p.Met758Ile) c.2232G>A (p.Met744Ile) c.1305G>A (p.Met435Ile) | gnomAD v4 |
20 | g.63406975A= | CA2374774341 | KCNQ2 | c.2342T= (p.Met781=) c.2288T= (p.Met763=) c.1685T= (p.Met562=) c.2195T= (p.Met732=) c.1856T= (p.Met619=) c.2204T= (p.Met735=) c.2241+71T= (n.2241+71T=) c.2205+71T= (n.2205+71T=) c.2234T= (p.Met745=) c.2133+71T= (n.2133+71T=) c.1680-6132T= (n.1680-6132T=) c.2330T= (p.Met777=) c.2396T= (p.Met799=) c.2393T= (p.Met798=) c.2366T= (p.Met789=) c.2312T= (p.Met771=) c.2285T= (p.Met762=) c.2270T= (p.Met757=) c.1877T= (p.Met626=) c.2339T= (p.Met780=) c.2276T= (p.Met759=) c.2273T= (p.Met758=) c.2231T= (p.Met744=) c.1304T= (p.Met435=) | |
20 | g.63406975A>C | CA409637996 | KCNQ2 | c.2342T>G (p.Met781Arg) c.2288T>G (p.Met763Arg) c.1685T>G (p.Met562Arg) c.2195T>G (p.Met732Arg) c.1856T>G (p.Met619Arg) c.2204T>G (p.Met735Arg) c.2241+71T>G (n.2241+71T>G) c.2205+71T>G (n.2205+71T>G) c.2234T>G (p.Met745Arg) c.2133+71T>G (n.2133+71T>G) c.1680-6132T>G (n.1680-6132T>G) c.2330T>G (p.Met777Arg) c.2396T>G (p.Met799Arg) c.2393T>G (p.Met798Arg) c.2366T>G (p.Met789Arg) c.2312T>G (p.Met771Arg) c.2285T>G (p.Met762Arg) c.2270T>G (p.Met757Arg) c.1877T>G (p.Met626Arg) c.2339T>G (p.Met780Arg) c.2276T>G (p.Met759Arg) c.2273T>G (p.Met758Arg) c.2231T>G (p.Met744Arg) c.1304T>G (p.Met435Arg) | |
20 | g.63406975A>G | CA409637998 | KCNQ2 | c.2342T>C (p.Met781Thr) c.2288T>C (p.Met763Thr) c.1685T>C (p.Met562Thr) c.2195T>C (p.Met732Thr) c.1856T>C (p.Met619Thr) c.2204T>C (p.Met735Thr) c.2241+71T>C (n.2241+71T>C) c.2205+71T>C (n.2205+71T>C) c.2234T>C (p.Met745Thr) c.2133+71T>C (n.2133+71T>C) c.1680-6132T>C (n.1680-6132T>C) c.2330T>C (p.Met777Thr) c.2396T>C (p.Met799Thr) c.2393T>C (p.Met798Thr) c.2366T>C (p.Met789Thr) c.2312T>C (p.Met771Thr) c.2285T>C (p.Met762Thr) c.2270T>C (p.Met757Thr) c.1877T>C (p.Met626Thr) c.2339T>C (p.Met780Thr) c.2276T>C (p.Met759Thr) c.2273T>C (p.Met758Thr) c.2231T>C (p.Met744Thr) c.1304T>C (p.Met435Thr) | gnomAD v4 |
20 | g.63406975A>T | CA409638003 | KCNQ2 | c.2342T>A (p.Met781Lys) c.2288T>A (p.Met763Lys) c.1685T>A (p.Met562Lys) c.2195T>A (p.Met732Lys) c.1856T>A (p.Met619Lys) c.2204T>A (p.Met735Lys) c.2241+71T>A (n.2241+71T>A) c.2205+71T>A (n.2205+71T>A) c.2234T>A (p.Met745Lys) c.2133+71T>A (n.2133+71T>A) c.1680-6132T>A (n.1680-6132T>A) c.2330T>A (p.Met777Lys) c.2396T>A (p.Met799Lys) c.2393T>A (p.Met798Lys) c.2366T>A (p.Met789Lys) c.2312T>A (p.Met771Lys) c.2285T>A (p.Met762Lys) c.2270T>A (p.Met757Lys) c.1877T>A (p.Met626Lys) c.2339T>A (p.Met780Lys) c.2276T>A (p.Met759Lys) c.2273T>A (p.Met758Lys) c.2231T>A (p.Met744Lys) c.1304T>A (p.Met435Lys) | |
20 | g.63406976T>A | CA409638006 | KCNQ2 | c.2341A>T (p.Met781Leu) c.2287A>T (p.Met763Leu) c.1684A>T (p.Met562Leu) c.2194A>T (p.Met732Leu) c.1855A>T (p.Met619Leu) c.2203A>T (p.Met735Leu) c.2241+70A>T (n.2241+70A>T) c.2205+70A>T (n.2205+70A>T) c.2233A>T (p.Met745Leu) c.2133+70A>T (n.2133+70A>T) c.1680-6133A>T (n.1680-6133A>T) c.2329A>T (p.Met777Leu) c.2395A>T (p.Met799Leu) c.2392A>T (p.Met798Leu) c.2365A>T (p.Met789Leu) c.2311A>T (p.Met771Leu) c.2284A>T (p.Met762Leu) c.2269A>T (p.Met757Leu) c.1876A>T (p.Met626Leu) c.2338A>T (p.Met780Leu) c.2275A>T (p.Met759Leu) c.2272A>T (p.Met758Leu) c.2230A>T (p.Met744Leu) c.1303A>T (p.Met435Leu) | gnomAD v4 |
20 | g.63406976T>C | CA317421963 | KCNQ2 | c.2341A>G (p.Met781Val) c.2287A>G (p.Met763Val) c.1684A>G (p.Met562Val) c.2194A>G (p.Met732Val) c.1855A>G (p.Met619Val) c.2203A>G (p.Met735Val) c.2241+70A>G (n.2241+70A>G) c.2205+70A>G (n.2205+70A>G) c.2233A>G (p.Met745Val) c.2133+70A>G (n.2133+70A>G) c.1680-6133A>G (n.1680-6133A>G) c.2329A>G (p.Met777Val) c.2395A>G (p.Met799Val) c.2392A>G (p.Met798Val) c.2365A>G (p.Met789Val) c.2311A>G (p.Met771Val) c.2284A>G (p.Met762Val) c.2269A>G (p.Met757Val) c.1876A>G (p.Met626Val) c.2338A>G (p.Met780Val) c.2275A>G (p.Met759Val) c.2272A>G (p.Met758Val) c.2230A>G (p.Met744Val) c.1303A>G (p.Met435Val) | dbSNP gnomAD v4 |
20 | g.63406976T>G | CA317421967 | KCNQ2 | c.2341A>C (p.Met781Leu) c.2287A>C (p.Met763Leu) c.1684A>C (p.Met562Leu) c.2194A>C (p.Met732Leu) c.1855A>C (p.Met619Leu) c.2203A>C (p.Met735Leu) c.2241+70A>C (n.2241+70A>C) c.2205+70A>C (n.2205+70A>C) c.2233A>C (p.Met745Leu) c.2133+70A>C (n.2133+70A>C) c.1680-6133A>C (n.1680-6133A>C) c.2329A>C (p.Met777Leu) c.2395A>C (p.Met799Leu) c.2392A>C (p.Met798Leu) c.2365A>C (p.Met789Leu) c.2311A>C (p.Met771Leu) c.2284A>C (p.Met762Leu) c.2269A>C (p.Met757Leu) c.1876A>C (p.Met626Leu) c.2338A>C (p.Met780Leu) c.2275A>C (p.Met759Leu) c.2272A>C (p.Met758Leu) c.2230A>C (p.Met744Leu) c.1303A>C (p.Met435Leu) | dbSNP |
20 | g.63406976T= | CA2374774343 | KCNQ2 | c.2341A= (p.Met781=) c.2287A= (p.Met763=) c.1684A= (p.Met562=) c.2194A= (p.Met732=) c.1855A= (p.Met619=) c.2203A= (p.Met735=) c.2241+70A= (n.2241+70A=) c.2205+70A= (n.2205+70A=) c.2233A= (p.Met745=) c.2133+70A= (n.2133+70A=) c.1680-6133A= (n.1680-6133A=) c.2329A= (p.Met777=) c.2395A= (p.Met799=) c.2392A= (p.Met798=) c.2365A= (p.Met789=) c.2311A= (p.Met771=) c.2284A= (p.Met762=) c.2269A= (p.Met757=) c.1876A= (p.Met626=) c.2338A= (p.Met780=) c.2275A= (p.Met759=) c.2272A= (p.Met758=) c.2230A= (p.Met744=) c.1303A= (p.Met435=) | |
20 | g.63406978_63406980dup | CA2374774344 | KCNQ2 | c.2339_2341dup (p.Ser780_Met781insSer) c.2285_2287dup (p.Ser762_Met763insSer) c.1682_1684dup (p.Ser561_Met562insSer) c.2192_2194dup (p.Ser731_Met732insSer) c.1853_1855dup (p.Ser618_Met619insSer) c.2201_2203dup (p.Ser734_Met735insSer) c.2241+68_2241+70dup (n.2241+68_2241+70dup) c.2205+68_2205+70dup (n.2205+68_2205+70dup) c.2231_2233dup (p.Ser744_Met745insSer) c.2133+68_2133+70dup (n.2133+68_2133+70dup) c.1680-6135_1680-6133dup (n.1680-6135_1680-6133dup) c.2327_2329dup (p.Ser776_Met777insSer) c.2393_2395dup (p.Ser798_Met799insSer) c.2390_2392dup (p.Ser797_Met798insSer) c.2363_2365dup (p.Ser788_Met789insSer) c.2309_2311dup (p.Ser770_Met771insSer) c.2282_2284dup (p.Ser761_Met762insSer) c.2267_2269dup (p.Ser756_Met757insSer) c.1874_1876dup (p.Ser625_Met626insSer) c.2336_2338dup (p.Ser779_Met780insSer) c.2273_2275dup (p.Ser758_Met759insSer) c.2270_2272dup (p.Ser757_Met758insSer) c.2228_2230dup (p.Ser743_Met744insSer) c.1301_1303dup (p.Ser434_Met435insSer) | ClinVar dbSNP |
20 | g.63406976_63406991delinsTGCTGGCGCGGTTGCC | CA2374774342 | KCNQ2 | c.2326_2341delinsGGCAACCGCGCCAGCA (p.Gly776=) c.2272_2287delinsGGCAACCGCGCCAGCA (p.Gly758=) c.1669_1684delinsGGCAACCGCGCCAGCA (p.Gly557=) c.2179_2194delinsGGCAACCGCGCCAGCA (p.Gly727=) c.1840_1855delinsGGCAACCGCGCCAGCA (p.Gly614=) c.2188_2203delinsGGCAACCGCGCCAGCA (p.Gly730=) c.2241+55_2241+70delinsGGCAACCGCGCCAGCA (n.2241+55_2241+70delinsGGCAACCGCGCCAGCA) c.2205+55_2205+70delinsGGCAACCGCGCCAGCA (n.2205+55_2205+70delinsGGCAACCGCGCCAGCA) c.2218_2233delinsGGCAACCGCGCCAGCA (p.Gly740=) c.2133+55_2133+70delinsGGCAACCGCGCCAGCA (n.2133+55_2133+70delinsGGCAACCGCGCCAGCA) c.1680-6148_1680-6133delinsGGCAACCGCGCCAGCA (n.1680-6148_1680-6133delinsGGCAACCGCGCCAGCA) c.2314_2329delinsGGCAACCGCGCCAGCA (p.Gly772=) c.2380_2395delinsGGCAACCGCGCCAGCA (p.Gly794=) c.2377_2392delinsGGCAACCGCGCCAGCA (p.Gly793=) c.2350_2365delinsGGCAACCGCGCCAGCA (p.Gly784=) c.2296_2311delinsGGCAACCGCGCCAGCA (p.Gly766=) c.2269_2284delinsGGCAACCGCGCCAGCA (p.Gly757=) c.2254_2269delinsGGCAACCGCGCCAGCA (p.Gly752=) c.1861_1876delinsGGCAACCGCGCCAGCA (p.Gly621=) c.2323_2338delinsGGCAACCGCGCCAGCA (p.Gly775=) c.2260_2275delinsGGCAACCGCGCCAGCA (p.Gly754=) c.2257_2272delinsGGCAACCGCGCCAGCA (p.Gly753=) c.2215_2230delinsGGCAACCGCGCCAGCA (p.Gly739=) c.1288_1303delinsGGCAACCGCGCCAGCA (p.Gly430=) | |
20 | g.63406977G>A | CA511339352 | KCNQ2 | c.2340C>T (p.Ser780=) c.2286C>T (p.Ser762=) c.1683C>T (p.Ser561=) c.2193C>T (p.Ser731=) c.1854C>T (p.Ser618=) c.2202C>T (p.Ser734=) c.2241+69C>T (n.2241+69C>T) c.2205+69C>T (n.2205+69C>T) c.2232C>T (p.Ser744=) c.2133+69C>T (n.2133+69C>T) c.1680-6134C>T (n.1680-6134C>T) c.2328C>T (p.Ser776=) c.2394C>T (p.Ser798=) c.2391C>T (p.Ser797=) c.2364C>T (p.Ser788=) c.2310C>T (p.Ser770=) c.2283C>T (p.Ser761=) c.2268C>T (p.Ser756=) c.1875C>T (p.Ser625=) c.2337C>T (p.Ser779=) c.2274C>T (p.Ser758=) c.2271C>T (p.Ser757=) c.2229C>T (p.Ser743=) c.1302C>T (p.Ser434=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406977G>C | CA409638014 | KCNQ2 | c.2340C>G (p.Ser780Arg) c.2286C>G (p.Ser762Arg) c.1683C>G (p.Ser561Arg) c.2193C>G (p.Ser731Arg) c.1854C>G (p.Ser618Arg) c.2202C>G (p.Ser734Arg) c.2241+69C>G (n.2241+69C>G) c.2205+69C>G (n.2205+69C>G) c.2232C>G (p.Ser744Arg) c.2133+69C>G (n.2133+69C>G) c.1680-6134C>G (n.1680-6134C>G) c.2328C>G (p.Ser776Arg) c.2394C>G (p.Ser798Arg) c.2391C>G (p.Ser797Arg) c.2364C>G (p.Ser788Arg) c.2310C>G (p.Ser770Arg) c.2283C>G (p.Ser761Arg) c.2268C>G (p.Ser756Arg) c.1875C>G (p.Ser625Arg) c.2337C>G (p.Ser779Arg) c.2274C>G (p.Ser758Arg) c.2271C>G (p.Ser757Arg) c.2229C>G (p.Ser743Arg) c.1302C>G (p.Ser434Arg) | |
20 | g.63406977G= | CA2374774345 | KCNQ2 | c.2340C= (p.Ser780=) c.2286C= (p.Ser762=) c.1683C= (p.Ser561=) c.2193C= (p.Ser731=) c.1854C= (p.Ser618=) c.2202C= (p.Ser734=) c.2241+69C= (n.2241+69C=) c.2205+69C= (n.2205+69C=) c.2232C= (p.Ser744=) c.2133+69C= (n.2133+69C=) c.1680-6134C= (n.1680-6134C=) c.2328C= (p.Ser776=) c.2394C= (p.Ser798=) c.2391C= (p.Ser797=) c.2364C= (p.Ser788=) c.2310C= (p.Ser770=) c.2283C= (p.Ser761=) c.2268C= (p.Ser756=) c.1875C= (p.Ser625=) c.2337C= (p.Ser779=) c.2274C= (p.Ser758=) c.2271C= (p.Ser757=) c.2229C= (p.Ser743=) c.1302C= (p.Ser434=) | |
20 | g.63406977G>T | CA409638017 | KCNQ2 | c.2340C>A (p.Ser780Arg) c.2286C>A (p.Ser762Arg) c.1683C>A (p.Ser561Arg) c.2193C>A (p.Ser731Arg) c.1854C>A (p.Ser618Arg) c.2202C>A (p.Ser734Arg) c.2241+69C>A (n.2241+69C>A) c.2205+69C>A (n.2205+69C>A) c.2232C>A (p.Ser744Arg) c.2133+69C>A (n.2133+69C>A) c.1680-6134C>A (n.1680-6134C>A) c.2328C>A (p.Ser776Arg) c.2394C>A (p.Ser798Arg) c.2391C>A (p.Ser797Arg) c.2364C>A (p.Ser788Arg) c.2310C>A (p.Ser770Arg) c.2283C>A (p.Ser761Arg) c.2268C>A (p.Ser756Arg) c.1875C>A (p.Ser625Arg) c.2337C>A (p.Ser779Arg) c.2274C>A (p.Ser758Arg) c.2271C>A (p.Ser757Arg) c.2229C>A (p.Ser743Arg) c.1302C>A (p.Ser434Arg) | gnomAD v4 |
20 | g.63406977_63406991del | CA1139666804 | KCNQ2 | c.2326_2340del (p.Gly776_Ser780del) c.2272_2286del (p.Gly758_Ser762del) c.1669_1683del (p.Gly557_Ser561del) c.2179_2193del (p.Gly727_Ser731del) c.1840_1854del (p.Gly614_Ser618del) c.2188_2202del (p.Gly730_Ser734del) c.2241+55_2241+69del (n.2241+55_2241+69del) c.2205+55_2205+69del (n.2205+55_2205+69del) c.2218_2232del (p.Gly740_Ser744del) c.2133+55_2133+69del (n.2133+55_2133+69del) c.1680-6148_1680-6134del (n.1680-6148_1680-6134del) c.2314_2328del (p.Gly772_Ser776del) c.2380_2394del (p.Gly794_Ser798del) c.2377_2391del (p.Gly793_Ser797del) c.2350_2364del (p.Gly784_Ser788del) c.2296_2310del (p.Gly766_Ser770del) c.2269_2283del (p.Gly757_Ser761del) c.2254_2268del (p.Gly752_Ser756del) c.1861_1875del (p.Gly621_Ser625del) c.2323_2337del (p.Gly775_Ser779del) c.2260_2274del (p.Gly754_Ser758del) c.2257_2271del (p.Gly753_Ser757del) c.2215_2229del (p.Gly739_Ser743del) c.1288_1302del (p.Gly430_Ser434del) | ClinVar dbSNP |
20 | g.63406978C>A | CA409638018 | KCNQ2 | c.2339G>T (p.Ser780Ile) c.2285G>T (p.Ser762Ile) c.1682G>T (p.Ser561Ile) c.2192G>T (p.Ser731Ile) c.1853G>T (p.Ser618Ile) c.2201G>T (p.Ser734Ile) c.2241+68G>T (n.2241+68G>T) c.2205+68G>T (n.2205+68G>T) c.2231G>T (p.Ser744Ile) c.2133+68G>T (n.2133+68G>T) c.1680-6135G>T (n.1680-6135G>T) c.2327G>T (p.Ser776Ile) c.2393G>T (p.Ser798Ile) c.2390G>T (p.Ser797Ile) c.2363G>T (p.Ser788Ile) c.2309G>T (p.Ser770Ile) c.2282G>T (p.Ser761Ile) c.2267G>T (p.Ser756Ile) c.1874G>T (p.Ser625Ile) c.2336G>T (p.Ser779Ile) c.2273G>T (p.Ser758Ile) c.2270G>T (p.Ser757Ile) c.2228G>T (p.Ser743Ile) c.1301G>T (p.Ser434Ile) | |
20 | g.63406978C>G | CA409638019 | KCNQ2 | c.2339G>C (p.Ser780Thr) c.2285G>C (p.Ser762Thr) c.1682G>C (p.Ser561Thr) c.2192G>C (p.Ser731Thr) c.1853G>C (p.Ser618Thr) c.2201G>C (p.Ser734Thr) c.2241+68G>C (n.2241+68G>C) c.2205+68G>C (n.2205+68G>C) c.2231G>C (p.Ser744Thr) c.2133+68G>C (n.2133+68G>C) c.1680-6135G>C (n.1680-6135G>C) c.2327G>C (p.Ser776Thr) c.2393G>C (p.Ser798Thr) c.2390G>C (p.Ser797Thr) c.2363G>C (p.Ser788Thr) c.2309G>C (p.Ser770Thr) c.2282G>C (p.Ser761Thr) c.2267G>C (p.Ser756Thr) c.1874G>C (p.Ser625Thr) c.2336G>C (p.Ser779Thr) c.2273G>C (p.Ser758Thr) c.2270G>C (p.Ser757Thr) c.2228G>C (p.Ser743Thr) c.1301G>C (p.Ser434Thr) | |
20 | g.63406978C>T | CA409638020 | KCNQ2 | c.2339G>A (p.Ser780Asn) c.2285G>A (p.Ser762Asn) c.1682G>A (p.Ser561Asn) c.2192G>A (p.Ser731Asn) c.1853G>A (p.Ser618Asn) c.2201G>A (p.Ser734Asn) c.2241+68G>A (n.2241+68G>A) c.2205+68G>A (n.2205+68G>A) c.2231G>A (p.Ser744Asn) c.2133+68G>A (n.2133+68G>A) c.1680-6135G>A (n.1680-6135G>A) c.2327G>A (p.Ser776Asn) c.2393G>A (p.Ser798Asn) c.2390G>A (p.Ser797Asn) c.2363G>A (p.Ser788Asn) c.2309G>A (p.Ser770Asn) c.2282G>A (p.Ser761Asn) c.2267G>A (p.Ser756Asn) c.1874G>A (p.Ser625Asn) c.2336G>A (p.Ser779Asn) c.2273G>A (p.Ser758Asn) c.2270G>A (p.Ser757Asn) c.2228G>A (p.Ser743Asn) c.1301G>A (p.Ser434Asn) | ClinVar gnomAD v4 |
20 | g.63406979T>A | CA409638029 | KCNQ2 | c.2338A>T (p.Ser780Cys) c.2284A>T (p.Ser762Cys) c.1681A>T (p.Ser561Cys) c.2191A>T (p.Ser731Cys) c.1852A>T (p.Ser618Cys) c.2200A>T (p.Ser734Cys) c.2241+67A>T (n.2241+67A>T) c.2205+67A>T (n.2205+67A>T) c.2230A>T (p.Ser744Cys) c.2133+67A>T (n.2133+67A>T) c.1680-6136A>T (n.1680-6136A>T) c.2326A>T (p.Ser776Cys) c.2392A>T (p.Ser798Cys) c.2389A>T (p.Ser797Cys) c.2362A>T (p.Ser788Cys) c.2308A>T (p.Ser770Cys) c.2281A>T (p.Ser761Cys) c.2266A>T (p.Ser756Cys) c.1873A>T (p.Ser625Cys) c.2335A>T (p.Ser779Cys) c.2272A>T (p.Ser758Cys) c.2269A>T (p.Ser757Cys) c.2227A>T (p.Ser743Cys) c.1300A>T (p.Ser434Cys) | |
20 | g.63406979T>C | CA409638024 | KCNQ2 | c.2338A>G (p.Ser780Gly) c.2284A>G (p.Ser762Gly) c.1681A>G (p.Ser561Gly) c.2191A>G (p.Ser731Gly) c.1852A>G (p.Ser618Gly) c.2200A>G (p.Ser734Gly) c.2241+67A>G (n.2241+67A>G) c.2205+67A>G (n.2205+67A>G) c.2230A>G (p.Ser744Gly) c.2133+67A>G (n.2133+67A>G) c.1680-6136A>G (n.1680-6136A>G) c.2326A>G (p.Ser776Gly) c.2392A>G (p.Ser798Gly) c.2389A>G (p.Ser797Gly) c.2362A>G (p.Ser788Gly) c.2308A>G (p.Ser770Gly) c.2281A>G (p.Ser761Gly) c.2266A>G (p.Ser756Gly) c.1873A>G (p.Ser625Gly) c.2335A>G (p.Ser779Gly) c.2272A>G (p.Ser758Gly) c.2269A>G (p.Ser757Gly) c.2227A>G (p.Ser743Gly) c.1300A>G (p.Ser434Gly) | |
20 | g.63406979T>G | CA409638022 | KCNQ2 | c.2338A>C (p.Ser780Arg) c.2284A>C (p.Ser762Arg) c.1681A>C (p.Ser561Arg) c.2191A>C (p.Ser731Arg) c.1852A>C (p.Ser618Arg) c.2200A>C (p.Ser734Arg) c.2241+67A>C (n.2241+67A>C) c.2205+67A>C (n.2205+67A>C) c.2230A>C (p.Ser744Arg) c.2133+67A>C (n.2133+67A>C) c.1680-6136A>C (n.1680-6136A>C) c.2326A>C (p.Ser776Arg) c.2392A>C (p.Ser798Arg) c.2389A>C (p.Ser797Arg) c.2362A>C (p.Ser788Arg) c.2308A>C (p.Ser770Arg) c.2281A>C (p.Ser761Arg) c.2266A>C (p.Ser756Arg) c.1873A>C (p.Ser625Arg) c.2335A>C (p.Ser779Arg) c.2272A>C (p.Ser758Arg) c.2269A>C (p.Ser757Arg) c.2227A>C (p.Ser743Arg) c.1300A>C (p.Ser434Arg) | |
20 | g.63406980G>A | CA511339357 | KCNQ2 | c.2337C>T (p.Ala779=) c.2283C>T (p.Ala761=) c.1680C>T (p.Ala560=) c.2190C>T (p.Ala730=) c.1851C>T (p.Ala617=) c.2199C>T (p.Ala733=) c.2241+66C>T (n.2241+66C>T) c.2205+66C>T (n.2205+66C>T) c.2229C>T (p.Ala743=) c.2133+66C>T (n.2133+66C>T) c.1680-6137C>T (n.1680-6137C>T) c.2325C>T (p.Ala775=) c.2391C>T (p.Ala797=) c.2388C>T (p.Ala796=) c.2361C>T (p.Ala787=) c.2307C>T (p.Ala769=) c.2280C>T (p.Ala760=) c.2265C>T (p.Ala755=) c.1872C>T (p.Ala624=) c.2334C>T (p.Ala778=) c.2271C>T (p.Ala757=) c.2268C>T (p.Ala756=) c.2226C>T (p.Ala742=) c.1299C>T (p.Ala433=) | |
20 | g.63406980G>C | CA511339358 | KCNQ2 | c.2337C>G (p.Ala779=) c.2283C>G (p.Ala761=) c.1680C>G (p.Ala560=) c.2190C>G (p.Ala730=) c.1851C>G (p.Ala617=) c.2199C>G (p.Ala733=) c.2241+66C>G (n.2241+66C>G) c.2205+66C>G (n.2205+66C>G) c.2229C>G (p.Ala743=) c.2133+66C>G (n.2133+66C>G) c.1680-6137C>G (n.1680-6137C>G) c.2325C>G (p.Ala775=) c.2391C>G (p.Ala797=) c.2388C>G (p.Ala796=) c.2361C>G (p.Ala787=) c.2307C>G (p.Ala769=) c.2280C>G (p.Ala760=) c.2265C>G (p.Ala755=) c.1872C>G (p.Ala624=) c.2334C>G (p.Ala778=) c.2271C>G (p.Ala757=) c.2268C>G (p.Ala756=) c.2226C>G (p.Ala742=) c.1299C>G (p.Ala433=) | |
20 | g.63406980G>T | CA511339359 | KCNQ2 | c.2337C>A (p.Ala779=) c.2283C>A (p.Ala761=) c.1680C>A (p.Ala560=) c.2190C>A (p.Ala730=) c.1851C>A (p.Ala617=) c.2199C>A (p.Ala733=) c.2241+66C>A (n.2241+66C>A) c.2205+66C>A (n.2205+66C>A) c.2229C>A (p.Ala743=) c.2133+66C>A (n.2133+66C>A) c.1680-6137C>A (n.1680-6137C>A) c.2325C>A (p.Ala775=) c.2391C>A (p.Ala797=) c.2388C>A (p.Ala796=) c.2361C>A (p.Ala787=) c.2307C>A (p.Ala769=) c.2280C>A (p.Ala760=) c.2265C>A (p.Ala755=) c.1872C>A (p.Ala624=) c.2334C>A (p.Ala778=) c.2271C>A (p.Ala757=) c.2268C>A (p.Ala756=) c.2226C>A (p.Ala742=) c.1299C>A (p.Ala433=) | |
20 | g.63406981G>A | CA409638033 | KCNQ2 | c.2336C>T (p.Ala779Val) c.2282C>T (p.Ala761Val) c.1679C>T (p.Ala560Val) c.2189C>T (p.Ala730Val) c.1850C>T (p.Ala617Val) c.2198C>T (p.Ala733Val) c.2241+65C>T (n.2241+65C>T) c.2205+65C>T (n.2205+65C>T) c.2228C>T (p.Ala743Val) c.2133+65C>T (n.2133+65C>T) c.1680-6138C>T (n.1680-6138C>T) c.2324C>T (p.Ala775Val) c.2390C>T (p.Ala797Val) c.2387C>T (p.Ala796Val) c.2360C>T (p.Ala787Val) c.2306C>T (p.Ala769Val) c.2279C>T (p.Ala760Val) c.2264C>T (p.Ala755Val) c.1871C>T (p.Ala624Val) c.2333C>T (p.Ala778Val) c.2270C>T (p.Ala757Val) c.2267C>T (p.Ala756Val) c.2225C>T (p.Ala742Val) c.1298C>T (p.Ala433Val) | gnomAD v4 |
20 | g.63406981G>C | CA409638035 | KCNQ2 | c.2336C>G (p.Ala779Gly) c.2282C>G (p.Ala761Gly) c.1679C>G (p.Ala560Gly) c.2189C>G (p.Ala730Gly) c.1850C>G (p.Ala617Gly) c.2198C>G (p.Ala733Gly) c.2241+65C>G (n.2241+65C>G) c.2205+65C>G (n.2205+65C>G) c.2228C>G (p.Ala743Gly) c.2133+65C>G (n.2133+65C>G) c.1680-6138C>G (n.1680-6138C>G) c.2324C>G (p.Ala775Gly) c.2390C>G (p.Ala797Gly) c.2387C>G (p.Ala796Gly) c.2360C>G (p.Ala787Gly) c.2306C>G (p.Ala769Gly) c.2279C>G (p.Ala760Gly) c.2264C>G (p.Ala755Gly) c.1871C>G (p.Ala624Gly) c.2333C>G (p.Ala778Gly) c.2270C>G (p.Ala757Gly) c.2267C>G (p.Ala756Gly) c.2225C>G (p.Ala742Gly) c.1298C>G (p.Ala433Gly) | |
20 | g.63406981G>T | CA409638042 | KCNQ2 | c.2336C>A (p.Ala779Asp) c.2282C>A (p.Ala761Asp) c.1679C>A (p.Ala560Asp) c.2189C>A (p.Ala730Asp) c.1850C>A (p.Ala617Asp) c.2198C>A (p.Ala733Asp) c.2241+65C>A (n.2241+65C>A) c.2205+65C>A (n.2205+65C>A) c.2228C>A (p.Ala743Asp) c.2133+65C>A (n.2133+65C>A) c.1680-6138C>A (n.1680-6138C>A) c.2324C>A (p.Ala775Asp) c.2390C>A (p.Ala797Asp) c.2387C>A (p.Ala796Asp) c.2360C>A (p.Ala787Asp) c.2306C>A (p.Ala769Asp) c.2279C>A (p.Ala760Asp) c.2264C>A (p.Ala755Asp) c.1871C>A (p.Ala624Asp) c.2333C>A (p.Ala778Asp) c.2270C>A (p.Ala757Asp) c.2267C>A (p.Ala756Asp) c.2225C>A (p.Ala742Asp) c.1298C>A (p.Ala433Asp) | |
20 | g.63406982C>A | CA9958107 | KCNQ2 | c.2335G>T (p.Ala779Ser) c.2281G>T (p.Ala761Ser) c.1678G>T (p.Ala560Ser) c.2188G>T (p.Ala730Ser) c.1849G>T (p.Ala617Ser) c.2197G>T (p.Ala733Ser) c.2241+64G>T (n.2241+64G>T) c.2205+64G>T (n.2205+64G>T) c.2227G>T (p.Ala743Ser) c.2133+64G>T (n.2133+64G>T) c.1680-6139G>T (n.1680-6139G>T) c.2323G>T (p.Ala775Ser) c.2389G>T (p.Ala797Ser) c.2386G>T (p.Ala796Ser) c.2359G>T (p.Ala787Ser) c.2305G>T (p.Ala769Ser) c.2278G>T (p.Ala760Ser) c.2263G>T (p.Ala755Ser) c.1870G>T (p.Ala624Ser) c.2332G>T (p.Ala778Ser) c.2269G>T (p.Ala757Ser) c.2266G>T (p.Ala756Ser) c.2224G>T (p.Ala742Ser) c.1297G>T (p.Ala433Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406982C= | CA2374774346 | KCNQ2 | c.2335G= (p.Ala779=) c.2281G= (p.Ala761=) c.1678G= (p.Ala560=) c.2188G= (p.Ala730=) c.1849G= (p.Ala617=) c.2197G= (p.Ala733=) c.2241+64G= (n.2241+64G=) c.2205+64G= (n.2205+64G=) c.2227G= (p.Ala743=) c.2133+64G= (n.2133+64G=) c.1680-6139G= (n.1680-6139G=) c.2323G= (p.Ala775=) c.2389G= (p.Ala797=) c.2386G= (p.Ala796=) c.2359G= (p.Ala787=) c.2305G= (p.Ala769=) c.2278G= (p.Ala760=) c.2263G= (p.Ala755=) c.1870G= (p.Ala624=) c.2332G= (p.Ala778=) c.2269G= (p.Ala757=) c.2266G= (p.Ala756=) c.2224G= (p.Ala742=) c.1297G= (p.Ala433=) | |
20 | g.63406982C>G | CA409638044 | KCNQ2 | c.2335G>C (p.Ala779Pro) c.2281G>C (p.Ala761Pro) c.1678G>C (p.Ala560Pro) c.2188G>C (p.Ala730Pro) c.1849G>C (p.Ala617Pro) c.2197G>C (p.Ala733Pro) c.2241+64G>C (n.2241+64G>C) c.2205+64G>C (n.2205+64G>C) c.2227G>C (p.Ala743Pro) c.2133+64G>C (n.2133+64G>C) c.1680-6139G>C (n.1680-6139G>C) c.2323G>C (p.Ala775Pro) c.2389G>C (p.Ala797Pro) c.2386G>C (p.Ala796Pro) c.2359G>C (p.Ala787Pro) c.2305G>C (p.Ala769Pro) c.2278G>C (p.Ala760Pro) c.2263G>C (p.Ala755Pro) c.1870G>C (p.Ala624Pro) c.2332G>C (p.Ala778Pro) c.2269G>C (p.Ala757Pro) c.2266G>C (p.Ala756Pro) c.2224G>C (p.Ala742Pro) c.1297G>C (p.Ala433Pro) | gnomAD v4 |
20 | g.63406982C>T | CA231192 | KCNQ2 | c.2335G>A (p.Ala779Thr) c.2281G>A (p.Ala761Thr) c.1678G>A (p.Ala560Thr) c.2188G>A (p.Ala730Thr) c.1849G>A (p.Ala617Thr) c.2197G>A (p.Ala733Thr) c.2241+64G>A (n.2241+64G>A) c.2205+64G>A (n.2205+64G>A) c.2227G>A (p.Ala743Thr) c.2133+64G>A (n.2133+64G>A) c.1680-6139G>A (n.1680-6139G>A) c.2323G>A (p.Ala775Thr) c.2389G>A (p.Ala797Thr) c.2386G>A (p.Ala796Thr) c.2359G>A (p.Ala787Thr) c.2305G>A (p.Ala769Thr) c.2278G>A (p.Ala760Thr) c.2263G>A (p.Ala755Thr) c.1870G>A (p.Ala624Thr) c.2332G>A (p.Ala778Thr) c.2269G>A (p.Ala757Thr) c.2266G>A (p.Ala756Thr) c.2224G>A (p.Ala742Thr) c.1297G>A (p.Ala433Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63406983G>A | CA9958108 | KCNQ2 | c.2334C>T (p.Arg778=) c.2280C>T (p.Arg760=) c.1677C>T (p.Arg559=) c.2187C>T (p.Arg729=) c.1848C>T (p.Arg616=) c.2196C>T (p.Arg732=) c.2241+63C>T (n.2241+63C>T) c.2205+63C>T (n.2205+63C>T) c.2226C>T (p.Arg742=) c.2133+63C>T (n.2133+63C>T) c.1680-6140C>T (n.1680-6140C>T) c.2322C>T (p.Arg774=) c.2388C>T (p.Arg796=) c.2385C>T (p.Arg795=) c.2358C>T (p.Arg786=) c.2304C>T (p.Arg768=) c.2277C>T (p.Arg759=) c.2262C>T (p.Arg754=) c.1869C>T (p.Arg623=) c.2331C>T (p.Arg777=) c.2268C>T (p.Arg756=) c.2265C>T (p.Arg755=) c.2223C>T (p.Arg741=) c.1296C>T (p.Arg432=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406983G>C | CA511339364 | KCNQ2 | c.2334C>G (p.Arg778=) c.2280C>G (p.Arg760=) c.1677C>G (p.Arg559=) c.2187C>G (p.Arg729=) c.1848C>G (p.Arg616=) c.2196C>G (p.Arg732=) c.2241+63C>G (n.2241+63C>G) c.2205+63C>G (n.2205+63C>G) c.2226C>G (p.Arg742=) c.2133+63C>G (n.2133+63C>G) c.1680-6140C>G (n.1680-6140C>G) c.2322C>G (p.Arg774=) c.2388C>G (p.Arg796=) c.2385C>G (p.Arg795=) c.2358C>G (p.Arg786=) c.2304C>G (p.Arg768=) c.2277C>G (p.Arg759=) c.2262C>G (p.Arg754=) c.1869C>G (p.Arg623=) c.2331C>G (p.Arg777=) c.2268C>G (p.Arg756=) c.2265C>G (p.Arg755=) c.2223C>G (p.Arg741=) c.1296C>G (p.Arg432=) | |
20 | g.63406983G= | CA2374774347 | KCNQ2 | c.2334C= (p.Arg778=) c.2280C= (p.Arg760=) c.1677C= (p.Arg559=) c.2187C= (p.Arg729=) c.1848C= (p.Arg616=) c.2196C= (p.Arg732=) c.2241+63C= (n.2241+63C=) c.2205+63C= (n.2205+63C=) c.2226C= (p.Arg742=) c.2133+63C= (n.2133+63C=) c.1680-6140C= (n.1680-6140C=) c.2322C= (p.Arg774=) c.2388C= (p.Arg796=) c.2385C= (p.Arg795=) c.2358C= (p.Arg786=) c.2304C= (p.Arg768=) c.2277C= (p.Arg759=) c.2262C= (p.Arg754=) c.1869C= (p.Arg623=) c.2331C= (p.Arg777=) c.2268C= (p.Arg756=) c.2265C= (p.Arg755=) c.2223C= (p.Arg741=) c.1296C= (p.Arg432=) | |
20 | g.63406983G>T | CA511339365 | KCNQ2 | c.2334C>A (p.Arg778=) c.2280C>A (p.Arg760=) c.1677C>A (p.Arg559=) c.2187C>A (p.Arg729=) c.1848C>A (p.Arg616=) c.2196C>A (p.Arg732=) c.2241+63C>A (n.2241+63C>A) c.2205+63C>A (n.2205+63C>A) c.2226C>A (p.Arg742=) c.2133+63C>A (n.2133+63C>A) c.1680-6140C>A (n.1680-6140C>A) c.2322C>A (p.Arg774=) c.2388C>A (p.Arg796=) c.2385C>A (p.Arg795=) c.2358C>A (p.Arg786=) c.2304C>A (p.Arg768=) c.2277C>A (p.Arg759=) c.2262C>A (p.Arg754=) c.1869C>A (p.Arg623=) c.2331C>A (p.Arg777=) c.2268C>A (p.Arg756=) c.2265C>A (p.Arg755=) c.2223C>A (p.Arg741=) c.1296C>A (p.Arg432=) | |
20 | g.63406984C>A | CA409638053 | KCNQ2 | c.2333G>T (p.Arg778Leu) c.2279G>T (p.Arg760Leu) c.1676G>T (p.Arg559Leu) c.2186G>T (p.Arg729Leu) c.1847G>T (p.Arg616Leu) c.2195G>T (p.Arg732Leu) c.2241+62G>T (n.2241+62G>T) c.2205+62G>T (n.2205+62G>T) c.2225G>T (p.Arg742Leu) c.2133+62G>T (n.2133+62G>T) c.1680-6141G>T (n.1680-6141G>T) c.2321G>T (p.Arg774Leu) c.2387G>T (p.Arg796Leu) c.2384G>T (p.Arg795Leu) c.2357G>T (p.Arg786Leu) c.2303G>T (p.Arg768Leu) c.2276G>T (p.Arg759Leu) c.2261G>T (p.Arg754Leu) c.1868G>T (p.Arg623Leu) c.2330G>T (p.Arg777Leu) c.2267G>T (p.Arg756Leu) c.2264G>T (p.Arg755Leu) c.2222G>T (p.Arg741Leu) c.1295G>T (p.Arg432Leu) | gnomAD v4 |
20 | g.63406984C= | CA2374774348 | KCNQ2 | c.2333G= (p.Arg778=) c.2279G= (p.Arg760=) c.1676G= (p.Arg559=) c.2186G= (p.Arg729=) c.1847G= (p.Arg616=) c.2195G= (p.Arg732=) c.2241+62G= (n.2241+62G=) c.2205+62G= (n.2205+62G=) c.2225G= (p.Arg742=) c.2133+62G= (n.2133+62G=) c.1680-6141G= (n.1680-6141G=) c.2321G= (p.Arg774=) c.2387G= (p.Arg796=) c.2384G= (p.Arg795=) c.2357G= (p.Arg786=) c.2303G= (p.Arg768=) c.2276G= (p.Arg759=) c.2261G= (p.Arg754=) c.1868G= (p.Arg623=) c.2330G= (p.Arg777=) c.2267G= (p.Arg756=) c.2264G= (p.Arg755=) c.2222G= (p.Arg741=) c.1295G= (p.Arg432=) | |
20 | g.63406984C>G | CA409638056 | KCNQ2 | c.2333G>C (p.Arg778Pro) c.2279G>C (p.Arg760Pro) c.1676G>C (p.Arg559Pro) c.2186G>C (p.Arg729Pro) c.1847G>C (p.Arg616Pro) c.2195G>C (p.Arg732Pro) c.2241+62G>C (n.2241+62G>C) c.2205+62G>C (n.2205+62G>C) c.2225G>C (p.Arg742Pro) c.2133+62G>C (n.2133+62G>C) c.1680-6141G>C (n.1680-6141G>C) c.2321G>C (p.Arg774Pro) c.2387G>C (p.Arg796Pro) c.2384G>C (p.Arg795Pro) c.2357G>C (p.Arg786Pro) c.2303G>C (p.Arg768Pro) c.2276G>C (p.Arg759Pro) c.2261G>C (p.Arg754Pro) c.1868G>C (p.Arg623Pro) c.2330G>C (p.Arg777Pro) c.2267G>C (p.Arg756Pro) c.2264G>C (p.Arg755Pro) c.2222G>C (p.Arg741Pro) c.1295G>C (p.Arg432Pro) | |
20 | g.63406984C>T | CA338900 | KCNQ2 | c.2333G>A (p.Arg778His) c.2279G>A (p.Arg760His) c.1676G>A (p.Arg559His) c.2186G>A (p.Arg729His) c.1847G>A (p.Arg616His) c.2195G>A (p.Arg732His) c.2241+62G>A (n.2241+62G>A) c.2205+62G>A (n.2205+62G>A) c.2225G>A (p.Arg742His) c.2133+62G>A (n.2133+62G>A) c.1680-6141G>A (n.1680-6141G>A) c.2321G>A (p.Arg774His) c.2387G>A (p.Arg796His) c.2384G>A (p.Arg795His) c.2357G>A (p.Arg786His) c.2303G>A (p.Arg768His) c.2276G>A (p.Arg759His) c.2261G>A (p.Arg754His) c.1868G>A (p.Arg623His) c.2330G>A (p.Arg777His) c.2267G>A (p.Arg756His) c.2264G>A (p.Arg755His) c.2222G>A (p.Arg741His) c.1295G>A (p.Arg432His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406984_63406985delinsCG | CA2374774349 | KCNQ2 | c.2332_2333delinsCG (p.Arg778=) c.2278_2279delinsCG (p.Arg760=) c.1675_1676delinsCG (p.Arg559=) c.2185_2186delinsCG (p.Arg729=) c.1846_1847delinsCG (p.Arg616=) c.2194_2195delinsCG (p.Arg732=) c.2241+61_2241+62delinsCG (n.2241+61_2241+62delinsCG) c.2205+61_2205+62delinsCG (n.2205+61_2205+62delinsCG) c.2224_2225delinsCG (p.Arg742=) c.2133+61_2133+62delinsCG (n.2133+61_2133+62delinsCG) c.1680-6142_1680-6141delinsCG (n.1680-6142_1680-6141delinsCG) c.2320_2321delinsCG (p.Arg774=) c.2386_2387delinsCG (p.Arg796=) c.2383_2384delinsCG (p.Arg795=) c.2356_2357delinsCG (p.Arg786=) c.2302_2303delinsCG (p.Arg768=) c.2275_2276delinsCG (p.Arg759=) c.2260_2261delinsCG (p.Arg754=) c.1867_1868delinsCG (p.Arg623=) c.2329_2330delinsCG (p.Arg777=) c.2266_2267delinsCG (p.Arg756=) c.2263_2264delinsCG (p.Arg755=) c.2221_2222delinsCG (p.Arg741=) c.1294_1295delinsCG (p.Arg432=) | |
20 | g.63406985G>A | CA409638061 | KCNQ2 | c.2332C>T (p.Arg778Cys) c.2278C>T (p.Arg760Cys) c.1675C>T (p.Arg559Cys) c.2185C>T (p.Arg729Cys) c.1846C>T (p.Arg616Cys) c.2194C>T (p.Arg732Cys) c.2241+61C>T (n.2241+61C>T) c.2205+61C>T (n.2205+61C>T) c.2224C>T (p.Arg742Cys) c.2133+61C>T (n.2133+61C>T) c.1680-6142C>T (n.1680-6142C>T) c.2320C>T (p.Arg774Cys) c.2386C>T (p.Arg796Cys) c.2383C>T (p.Arg795Cys) c.2356C>T (p.Arg786Cys) c.2302C>T (p.Arg768Cys) c.2275C>T (p.Arg759Cys) c.2260C>T (p.Arg754Cys) c.1867C>T (p.Arg623Cys) c.2329C>T (p.Arg777Cys) c.2266C>T (p.Arg756Cys) c.2263C>T (p.Arg755Cys) c.2221C>T (p.Arg741Cys) c.1294C>T (p.Arg432Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406985G>C | CA409638063 | KCNQ2 | c.2332C>G (p.Arg778Gly) c.2278C>G (p.Arg760Gly) c.1675C>G (p.Arg559Gly) c.2185C>G (p.Arg729Gly) c.1846C>G (p.Arg616Gly) c.2194C>G (p.Arg732Gly) c.2241+61C>G (n.2241+61C>G) c.2205+61C>G (n.2205+61C>G) c.2224C>G (p.Arg742Gly) c.2133+61C>G (n.2133+61C>G) c.1680-6142C>G (n.1680-6142C>G) c.2320C>G (p.Arg774Gly) c.2386C>G (p.Arg796Gly) c.2383C>G (p.Arg795Gly) c.2356C>G (p.Arg786Gly) c.2302C>G (p.Arg768Gly) c.2275C>G (p.Arg759Gly) c.2260C>G (p.Arg754Gly) c.1867C>G (p.Arg623Gly) c.2329C>G (p.Arg777Gly) c.2266C>G (p.Arg756Gly) c.2263C>G (p.Arg755Gly) c.2221C>G (p.Arg741Gly) c.1294C>G (p.Arg432Gly) | |
20 | g.63406985G= | CA2374774350 | KCNQ2 | c.2332C= (p.Arg778=) c.2278C= (p.Arg760=) c.1675C= (p.Arg559=) c.2185C= (p.Arg729=) c.1846C= (p.Arg616=) c.2194C= (p.Arg732=) c.2241+61C= (n.2241+61C=) c.2205+61C= (n.2205+61C=) c.2224C= (p.Arg742=) c.2133+61C= (n.2133+61C=) c.1680-6142C= (n.1680-6142C=) c.2320C= (p.Arg774=) c.2386C= (p.Arg796=) c.2383C= (p.Arg795=) c.2356C= (p.Arg786=) c.2302C= (p.Arg768=) c.2275C= (p.Arg759=) c.2260C= (p.Arg754=) c.1867C= (p.Arg623=) c.2329C= (p.Arg777=) c.2266C= (p.Arg756=) c.2263C= (p.Arg755=) c.2221C= (p.Arg741=) c.1294C= (p.Arg432=) | |
20 | g.63406985G>T | CA409638066 | KCNQ2 | c.2332C>A (p.Arg778Ser) c.2278C>A (p.Arg760Ser) c.1675C>A (p.Arg559Ser) c.2185C>A (p.Arg729Ser) c.1846C>A (p.Arg616Ser) c.2194C>A (p.Arg732Ser) c.2241+61C>A (n.2241+61C>A) c.2205+61C>A (n.2205+61C>A) c.2224C>A (p.Arg742Ser) c.2133+61C>A (n.2133+61C>A) c.1680-6142C>A (n.1680-6142C>A) c.2320C>A (p.Arg774Ser) c.2386C>A (p.Arg796Ser) c.2383C>A (p.Arg795Ser) c.2356C>A (p.Arg786Ser) c.2302C>A (p.Arg768Ser) c.2275C>A (p.Arg759Ser) c.2260C>A (p.Arg754Ser) c.1867C>A (p.Arg623Ser) c.2329C>A (p.Arg777Ser) c.2266C>A (p.Arg756Ser) c.2263C>A (p.Arg755Ser) c.2221C>A (p.Arg741Ser) c.1294C>A (p.Arg432Ser) | |
20 | g.63406986del | CA658658882 | KCNQ2 | c.2332del (p.Arg778AlafsTer?) c.2278del (p.Arg760AlafsTer?) c.1675del (p.Arg559AlafsTer?) c.2185del (p.Arg729AlafsTer?) c.1846del (p.Arg616AlafsTer?) c.2194del (p.Arg732AlafsTer?) c.2241+61del (n.2241+61del) c.2205+61del (n.2205+61del) c.2224del (p.Arg742AlafsTer?) c.2133+61del (n.2133+61del) c.1680-6142del (n.1680-6142del) c.2320del (p.Arg774AlafsTer?) c.2386del (p.Arg796AlafsTer?) c.2383del (p.Arg795AlafsTer?) c.2356del (p.Arg786AlafsTer?) c.2302del (p.Arg768AlafsTer?) c.2275del (p.Arg759AlafsTer?) c.2260del (p.Arg754AlafsTer?) c.1867del (p.Arg623AlafsTer?) c.2329del (p.Arg777AlafsTer?) c.2266del (p.Arg756AlafsTer?) c.2263del (p.Arg755AlafsTer?) c.2221del (p.Arg741AlafsTer?) c.1294del (p.Arg432AlafsTer?) | ClinVar dbSNP |
20 | g.63406986G>A | CA511339369 | KCNQ2 | c.2331C>T (p.Asn777=) c.2277C>T (p.Asn759=) c.1674C>T (p.Asn558=) c.2184C>T (p.Asn728=) c.1845C>T (p.Asn615=) c.2193C>T (p.Asn731=) c.2241+60C>T (n.2241+60C>T) c.2205+60C>T (n.2205+60C>T) c.2223C>T (p.Asn741=) c.2133+60C>T (n.2133+60C>T) c.1680-6143C>T (n.1680-6143C>T) c.2319C>T (p.Asn773=) c.2385C>T (p.Asn795=) c.2382C>T (p.Asn794=) c.2355C>T (p.Asn785=) c.2301C>T (p.Asn767=) c.2274C>T (p.Asn758=) c.2259C>T (p.Asn753=) c.1866C>T (p.Asn622=) c.2328C>T (p.Asn776=) c.2265C>T (p.Asn755=) c.2262C>T (p.Asn754=) c.2220C>T (p.Asn740=) c.1293C>T (p.Asn431=) | gnomAD v4 |
20 | g.63406986G>C | CA409638070 | KCNQ2 | c.2331C>G (p.Asn777Lys) c.2277C>G (p.Asn759Lys) c.1674C>G (p.Asn558Lys) c.2184C>G (p.Asn728Lys) c.1845C>G (p.Asn615Lys) c.2193C>G (p.Asn731Lys) c.2241+60C>G (n.2241+60C>G) c.2205+60C>G (n.2205+60C>G) c.2223C>G (p.Asn741Lys) c.2133+60C>G (n.2133+60C>G) c.1680-6143C>G (n.1680-6143C>G) c.2319C>G (p.Asn773Lys) c.2385C>G (p.Asn795Lys) c.2382C>G (p.Asn794Lys) c.2355C>G (p.Asn785Lys) c.2301C>G (p.Asn767Lys) c.2274C>G (p.Asn758Lys) c.2259C>G (p.Asn753Lys) c.1866C>G (p.Asn622Lys) c.2328C>G (p.Asn776Lys) c.2265C>G (p.Asn755Lys) c.2262C>G (p.Asn754Lys) c.2220C>G (p.Asn740Lys) c.1293C>G (p.Asn431Lys) | |
20 | g.63406986G= | CA2374774351 | KCNQ2 | c.2331C= (p.Asn777=) c.2277C= (p.Asn759=) c.1674C= (p.Asn558=) c.2184C= (p.Asn728=) c.1845C= (p.Asn615=) c.2193C= (p.Asn731=) c.2241+60C= (n.2241+60C=) c.2205+60C= (n.2205+60C=) c.2223C= (p.Asn741=) c.2133+60C= (n.2133+60C=) c.1680-6143C= (n.1680-6143C=) c.2319C= (p.Asn773=) c.2385C= (p.Asn795=) c.2382C= (p.Asn794=) c.2355C= (p.Asn785=) c.2301C= (p.Asn767=) c.2274C= (p.Asn758=) c.2259C= (p.Asn753=) c.1866C= (p.Asn622=) c.2328C= (p.Asn776=) c.2265C= (p.Asn755=) c.2262C= (p.Asn754=) c.2220C= (p.Asn740=) c.1293C= (p.Asn431=) | |
20 | g.63406986G>T | CA9958109 | KCNQ2 | c.2331C>A (p.Asn777Lys) c.2277C>A (p.Asn759Lys) c.1674C>A (p.Asn558Lys) c.2184C>A (p.Asn728Lys) c.1845C>A (p.Asn615Lys) c.2193C>A (p.Asn731Lys) c.2241+60C>A (n.2241+60C>A) c.2205+60C>A (n.2205+60C>A) c.2223C>A (p.Asn741Lys) c.2133+60C>A (n.2133+60C>A) c.1680-6143C>A (n.1680-6143C>A) c.2319C>A (p.Asn773Lys) c.2385C>A (p.Asn795Lys) c.2382C>A (p.Asn794Lys) c.2355C>A (p.Asn785Lys) c.2301C>A (p.Asn767Lys) c.2274C>A (p.Asn758Lys) c.2259C>A (p.Asn753Lys) c.1866C>A (p.Asn622Lys) c.2328C>A (p.Asn776Lys) c.2265C>A (p.Asn755Lys) c.2262C>A (p.Asn754Lys) c.2220C>A (p.Asn740Lys) c.1293C>A (p.Asn431Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406987T>A | CA409638075 | KCNQ2 | c.2330A>T (p.Asn777Ile) c.2276A>T (p.Asn759Ile) c.1673A>T (p.Asn558Ile) c.2183A>T (p.Asn728Ile) c.1844A>T (p.Asn615Ile) c.2192A>T (p.Asn731Ile) c.2241+59A>T (n.2241+59A>T) c.2205+59A>T (n.2205+59A>T) c.2222A>T (p.Asn741Ile) c.2133+59A>T (n.2133+59A>T) c.1680-6144A>T (n.1680-6144A>T) c.2318A>T (p.Asn773Ile) c.2384A>T (p.Asn795Ile) c.2381A>T (p.Asn794Ile) c.2354A>T (p.Asn785Ile) c.2300A>T (p.Asn767Ile) c.2273A>T (p.Asn758Ile) c.2258A>T (p.Asn753Ile) c.1865A>T (p.Asn622Ile) c.2327A>T (p.Asn776Ile) c.2264A>T (p.Asn755Ile) c.2261A>T (p.Asn754Ile) c.2219A>T (p.Asn740Ile) c.1292A>T (p.Asn431Ile) | |
20 | g.63406987T>C | CA409638077 | KCNQ2 | c.2330A>G (p.Asn777Ser) c.2276A>G (p.Asn759Ser) c.1673A>G (p.Asn558Ser) c.2183A>G (p.Asn728Ser) c.1844A>G (p.Asn615Ser) c.2192A>G (p.Asn731Ser) c.2241+59A>G (n.2241+59A>G) c.2205+59A>G (n.2205+59A>G) c.2222A>G (p.Asn741Ser) c.2133+59A>G (n.2133+59A>G) c.1680-6144A>G (n.1680-6144A>G) c.2318A>G (p.Asn773Ser) c.2384A>G (p.Asn795Ser) c.2381A>G (p.Asn794Ser) c.2354A>G (p.Asn785Ser) c.2300A>G (p.Asn767Ser) c.2273A>G (p.Asn758Ser) c.2258A>G (p.Asn753Ser) c.1865A>G (p.Asn622Ser) c.2327A>G (p.Asn776Ser) c.2264A>G (p.Asn755Ser) c.2261A>G (p.Asn754Ser) c.2219A>G (p.Asn740Ser) c.1292A>G (p.Asn431Ser) | dbSNP gnomAD v4 |
20 | g.63406987T>G | CA409638080 | KCNQ2 | c.2330A>C (p.Asn777Thr) c.2276A>C (p.Asn759Thr) c.1673A>C (p.Asn558Thr) c.2183A>C (p.Asn728Thr) c.1844A>C (p.Asn615Thr) c.2192A>C (p.Asn731Thr) c.2241+59A>C (n.2241+59A>C) c.2205+59A>C (n.2205+59A>C) c.2222A>C (p.Asn741Thr) c.2133+59A>C (n.2133+59A>C) c.1680-6144A>C (n.1680-6144A>C) c.2318A>C (p.Asn773Thr) c.2384A>C (p.Asn795Thr) c.2381A>C (p.Asn794Thr) c.2354A>C (p.Asn785Thr) c.2300A>C (p.Asn767Thr) c.2273A>C (p.Asn758Thr) c.2258A>C (p.Asn753Thr) c.1865A>C (p.Asn622Thr) c.2327A>C (p.Asn776Thr) c.2264A>C (p.Asn755Thr) c.2261A>C (p.Asn754Thr) c.2219A>C (p.Asn740Thr) c.1292A>C (p.Asn431Thr) | |
20 | g.63406987T= | CA2374774352 | KCNQ2 | c.2330A= (p.Asn777=) c.2276A= (p.Asn759=) c.1673A= (p.Asn558=) c.2183A= (p.Asn728=) c.1844A= (p.Asn615=) c.2192A= (p.Asn731=) c.2241+59A= (n.2241+59A=) c.2205+59A= (n.2205+59A=) c.2222A= (p.Asn741=) c.2133+59A= (n.2133+59A=) c.1680-6144A= (n.1680-6144A=) c.2318A= (p.Asn773=) c.2384A= (p.Asn795=) c.2381A= (p.Asn794=) c.2354A= (p.Asn785=) c.2300A= (p.Asn767=) c.2273A= (p.Asn758=) c.2258A= (p.Asn753=) c.1865A= (p.Asn622=) c.2327A= (p.Asn776=) c.2264A= (p.Asn755=) c.2261A= (p.Asn754=) c.2219A= (p.Asn740=) c.1292A= (p.Asn431=) | |
20 | g.63406988dup | CA916083760 | KCNQ2 | c.2330dup (p.Asn777LysfsTer?) c.2276dup (p.Asn759LysfsTer?) c.1673dup (p.Asn558LysfsTer?) c.2183dup (p.Asn728LysfsTer?) c.1844dup (p.Asn615LysfsTer?) c.2192dup (p.Asn731LysfsTer?) c.2241+59dup (n.2241+59dup) c.2205+59dup (n.2205+59dup) c.2222dup (p.Asn741LysfsTer?) c.2133+59dup (n.2133+59dup) c.1680-6144dup (n.1680-6144dup) c.2318dup (p.Asn773LysfsTer?) c.2384dup (p.Asn795LysfsTer?) c.2381dup (p.Asn794LysfsTer?) c.2354dup (p.Asn785LysfsTer?) c.2300dup (p.Asn767LysfsTer?) c.2273dup (p.Asn758LysfsTer?) c.2258dup (p.Asn753LysfsTer?) c.1865dup (p.Asn622LysfsTer?) c.2327dup (p.Asn776LysfsTer?) c.2264dup (p.Asn755LysfsTer?) c.2261dup (p.Asn754LysfsTer?) c.2219dup (p.Asn740LysfsTer?) c.1292dup (p.Asn431LysfsTer?) | ClinVar dbSNP |
20 | g.63406988T>A | CA409638084 | KCNQ2 | c.2329A>T (p.Asn777Tyr) c.2275A>T (p.Asn759Tyr) c.1672A>T (p.Asn558Tyr) c.2182A>T (p.Asn728Tyr) c.1843A>T (p.Asn615Tyr) c.2191A>T (p.Asn731Tyr) c.2241+58A>T (n.2241+58A>T) c.2205+58A>T (n.2205+58A>T) c.2221A>T (p.Asn741Tyr) c.2133+58A>T (n.2133+58A>T) c.1680-6145A>T (n.1680-6145A>T) c.2317A>T (p.Asn773Tyr) c.2383A>T (p.Asn795Tyr) c.2380A>T (p.Asn794Tyr) c.2353A>T (p.Asn785Tyr) c.2299A>T (p.Asn767Tyr) c.2272A>T (p.Asn758Tyr) c.2257A>T (p.Asn753Tyr) c.1864A>T (p.Asn622Tyr) c.2326A>T (p.Asn776Tyr) c.2263A>T (p.Asn755Tyr) c.2260A>T (p.Asn754Tyr) c.2218A>T (p.Asn740Tyr) c.1291A>T (p.Asn431Tyr) | |
20 | g.63406988T>C | CA409638086 | KCNQ2 | c.2329A>G (p.Asn777Asp) c.2275A>G (p.Asn759Asp) c.1672A>G (p.Asn558Asp) c.2182A>G (p.Asn728Asp) c.1843A>G (p.Asn615Asp) c.2191A>G (p.Asn731Asp) c.2241+58A>G (n.2241+58A>G) c.2205+58A>G (n.2205+58A>G) c.2221A>G (p.Asn741Asp) c.2133+58A>G (n.2133+58A>G) c.1680-6145A>G (n.1680-6145A>G) c.2317A>G (p.Asn773Asp) c.2383A>G (p.Asn795Asp) c.2380A>G (p.Asn794Asp) c.2353A>G (p.Asn785Asp) c.2299A>G (p.Asn767Asp) c.2272A>G (p.Asn758Asp) c.2257A>G (p.Asn753Asp) c.1864A>G (p.Asn622Asp) c.2326A>G (p.Asn776Asp) c.2263A>G (p.Asn755Asp) c.2260A>G (p.Asn754Asp) c.2218A>G (p.Asn740Asp) c.1291A>G (p.Asn431Asp) | |
20 | g.63406988T>G | CA409638087 | KCNQ2 | c.2329A>C (p.Asn777His) c.2275A>C (p.Asn759His) c.1672A>C (p.Asn558His) c.2182A>C (p.Asn728His) c.1843A>C (p.Asn615His) c.2191A>C (p.Asn731His) c.2241+58A>C (n.2241+58A>C) c.2205+58A>C (n.2205+58A>C) c.2221A>C (p.Asn741His) c.2133+58A>C (n.2133+58A>C) c.1680-6145A>C (n.1680-6145A>C) c.2317A>C (p.Asn773His) c.2383A>C (p.Asn795His) c.2380A>C (p.Asn794His) c.2353A>C (p.Asn785His) c.2299A>C (p.Asn767His) c.2272A>C (p.Asn758His) c.2257A>C (p.Asn753His) c.1864A>C (p.Asn622His) c.2326A>C (p.Asn776His) c.2263A>C (p.Asn755His) c.2260A>C (p.Asn754His) c.2218A>C (p.Asn740His) c.1291A>C (p.Asn431His) | gnomAD v4 |
20 | g.63406989G>A | CA511339373 | KCNQ2 | c.2328C>T (p.Gly776=) c.2274C>T (p.Gly758=) c.1671C>T (p.Gly557=) c.2181C>T (p.Gly727=) c.1842C>T (p.Gly614=) c.2190C>T (p.Gly730=) c.2241+57C>T (n.2241+57C>T) c.2205+57C>T (n.2205+57C>T) c.2220C>T (p.Gly740=) c.2133+57C>T (n.2133+57C>T) c.1680-6146C>T (n.1680-6146C>T) c.2316C>T (p.Gly772=) c.2382C>T (p.Gly794=) c.2379C>T (p.Gly793=) c.2352C>T (p.Gly784=) c.2298C>T (p.Gly766=) c.2271C>T (p.Gly757=) c.2256C>T (p.Gly752=) c.1863C>T (p.Gly621=) c.2325C>T (p.Gly775=) c.2262C>T (p.Gly754=) c.2259C>T (p.Gly753=) c.2217C>T (p.Gly739=) c.1290C>T (p.Gly430=) | ClinVar dbSNP gnomAD v4 |
20 | g.63406989G>C | CA317422000 | KCNQ2 | c.2328C>G (p.Gly776=) c.2274C>G (p.Gly758=) c.1671C>G (p.Gly557=) c.2181C>G (p.Gly727=) c.1842C>G (p.Gly614=) c.2190C>G (p.Gly730=) c.2241+57C>G (n.2241+57C>G) c.2205+57C>G (n.2205+57C>G) c.2220C>G (p.Gly740=) c.2133+57C>G (n.2133+57C>G) c.1680-6146C>G (n.1680-6146C>G) c.2316C>G (p.Gly772=) c.2382C>G (p.Gly794=) c.2379C>G (p.Gly793=) c.2352C>G (p.Gly784=) c.2298C>G (p.Gly766=) c.2271C>G (p.Gly757=) c.2256C>G (p.Gly752=) c.1863C>G (p.Gly621=) c.2325C>G (p.Gly775=) c.2262C>G (p.Gly754=) c.2259C>G (p.Gly753=) c.2217C>G (p.Gly739=) c.1290C>G (p.Gly430=) | dbSNP gnomAD v4 |
20 | g.63406989G= | CA2374774353 | KCNQ2 | c.2328C= (p.Gly776=) c.2274C= (p.Gly758=) c.1671C= (p.Gly557=) c.2181C= (p.Gly727=) c.1842C= (p.Gly614=) c.2190C= (p.Gly730=) c.2241+57C= (n.2241+57C=) c.2205+57C= (n.2205+57C=) c.2220C= (p.Gly740=) c.2133+57C= (n.2133+57C=) c.1680-6146C= (n.1680-6146C=) c.2316C= (p.Gly772=) c.2382C= (p.Gly794=) c.2379C= (p.Gly793=) c.2352C= (p.Gly784=) c.2298C= (p.Gly766=) c.2271C= (p.Gly757=) c.2256C= (p.Gly752=) c.1863C= (p.Gly621=) c.2325C= (p.Gly775=) c.2262C= (p.Gly754=) c.2259C= (p.Gly753=) c.2217C= (p.Gly739=) c.1290C= (p.Gly430=) | |
20 | g.63406989G>T | CA511339372 | KCNQ2 | c.2328C>A (p.Gly776=) c.2274C>A (p.Gly758=) c.1671C>A (p.Gly557=) c.2181C>A (p.Gly727=) c.1842C>A (p.Gly614=) c.2190C>A (p.Gly730=) c.2241+57C>A (n.2241+57C>A) c.2205+57C>A (n.2205+57C>A) c.2220C>A (p.Gly740=) c.2133+57C>A (n.2133+57C>A) c.1680-6146C>A (n.1680-6146C>A) c.2316C>A (p.Gly772=) c.2382C>A (p.Gly794=) c.2379C>A (p.Gly793=) c.2352C>A (p.Gly784=) c.2298C>A (p.Gly766=) c.2271C>A (p.Gly757=) c.2256C>A (p.Gly752=) c.1863C>A (p.Gly621=) c.2325C>A (p.Gly775=) c.2262C>A (p.Gly754=) c.2259C>A (p.Gly753=) c.2217C>A (p.Gly739=) c.1290C>A (p.Gly430=) | |
20 | g.63406990C>A | CA409638089 | KCNQ2 | c.2327G>T (p.Gly776Val) c.2273G>T (p.Gly758Val) c.1670G>T (p.Gly557Val) c.2180G>T (p.Gly727Val) c.1841G>T (p.Gly614Val) c.2189G>T (p.Gly730Val) c.2241+56G>T (n.2241+56G>T) c.2205+56G>T (n.2205+56G>T) c.2219G>T (p.Gly740Val) c.2133+56G>T (n.2133+56G>T) c.1680-6147G>T (n.1680-6147G>T) c.2315G>T (p.Gly772Val) c.2381G>T (p.Gly794Val) c.2378G>T (p.Gly793Val) c.2351G>T (p.Gly784Val) c.2297G>T (p.Gly766Val) c.2270G>T (p.Gly757Val) c.2255G>T (p.Gly752Val) c.1862G>T (p.Gly621Val) c.2324G>T (p.Gly775Val) c.2261G>T (p.Gly754Val) c.2258G>T (p.Gly753Val) c.2216G>T (p.Gly739Val) c.1289G>T (p.Gly430Val) | |
20 | g.63406990C= | CA2374774354 | KCNQ2 | c.2327G= (p.Gly776=) c.2273G= (p.Gly758=) c.1670G= (p.Gly557=) c.2180G= (p.Gly727=) c.1841G= (p.Gly614=) c.2189G= (p.Gly730=) c.2241+56G= (n.2241+56G=) c.2205+56G= (n.2205+56G=) c.2219G= (p.Gly740=) c.2133+56G= (n.2133+56G=) c.1680-6147G= (n.1680-6147G=) c.2315G= (p.Gly772=) c.2381G= (p.Gly794=) c.2378G= (p.Gly793=) c.2351G= (p.Gly784=) c.2297G= (p.Gly766=) c.2270G= (p.Gly757=) c.2255G= (p.Gly752=) c.1862G= (p.Gly621=) c.2324G= (p.Gly775=) c.2261G= (p.Gly754=) c.2258G= (p.Gly753=) c.2216G= (p.Gly739=) c.1289G= (p.Gly430=) | |
20 | g.63406990C>G | CA409638092 | KCNQ2 | c.2327G>C (p.Gly776Ala) c.2273G>C (p.Gly758Ala) c.1670G>C (p.Gly557Ala) c.2180G>C (p.Gly727Ala) c.1841G>C (p.Gly614Ala) c.2189G>C (p.Gly730Ala) c.2241+56G>C (n.2241+56G>C) c.2205+56G>C (n.2205+56G>C) c.2219G>C (p.Gly740Ala) c.2133+56G>C (n.2133+56G>C) c.1680-6147G>C (n.1680-6147G>C) c.2315G>C (p.Gly772Ala) c.2381G>C (p.Gly794Ala) c.2378G>C (p.Gly793Ala) c.2351G>C (p.Gly784Ala) c.2297G>C (p.Gly766Ala) c.2270G>C (p.Gly757Ala) c.2255G>C (p.Gly752Ala) c.1862G>C (p.Gly621Ala) c.2324G>C (p.Gly775Ala) c.2261G>C (p.Gly754Ala) c.2258G>C (p.Gly753Ala) c.2216G>C (p.Gly739Ala) c.1289G>C (p.Gly430Ala) | |
20 | g.63406990C>T | CA409638094 | KCNQ2 | c.2327G>A (p.Gly776Asp) c.2273G>A (p.Gly758Asp) c.1670G>A (p.Gly557Asp) c.2180G>A (p.Gly727Asp) c.1841G>A (p.Gly614Asp) c.2189G>A (p.Gly730Asp) c.2241+56G>A (n.2241+56G>A) c.2205+56G>A (n.2205+56G>A) c.2219G>A (p.Gly740Asp) c.2133+56G>A (n.2133+56G>A) c.1680-6147G>A (n.1680-6147G>A) c.2315G>A (p.Gly772Asp) c.2381G>A (p.Gly794Asp) c.2378G>A (p.Gly793Asp) c.2351G>A (p.Gly784Asp) c.2297G>A (p.Gly766Asp) c.2270G>A (p.Gly757Asp) c.2255G>A (p.Gly752Asp) c.1862G>A (p.Gly621Asp) c.2324G>A (p.Gly775Asp) c.2261G>A (p.Gly754Asp) c.2258G>A (p.Gly753Asp) c.2216G>A (p.Gly739Asp) c.1289G>A (p.Gly430Asp) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406994del | CA2653805288 | KCNQ2 | c.2327del (p.Gly776AlafsTer?) c.2273del (p.Gly758AlafsTer?) c.1670del (p.Gly557AlafsTer?) c.2180del (p.Gly727AlafsTer?) c.1841del (p.Gly614AlafsTer?) c.2189del (p.Gly730AlafsTer?) c.2241+56del (n.2241+56del) c.2205+56del (n.2205+56del) c.2219del (p.Gly740AlafsTer?) c.2133+56del (n.2133+56del) c.1680-6147del (n.1680-6147del) c.2315del (p.Gly772AlafsTer?) c.2381del (p.Gly794AlafsTer?) c.2378del (p.Gly793AlafsTer?) c.2351del (p.Gly784AlafsTer?) c.2297del (p.Gly766AlafsTer?) c.2270del (p.Gly757AlafsTer?) c.2255del (p.Gly752AlafsTer?) c.1862del (p.Gly621AlafsTer?) c.2324del (p.Gly775AlafsTer?) c.2261del (p.Gly754AlafsTer?) c.2258del (p.Gly753AlafsTer?) c.2216del (p.Gly739AlafsTer?) c.1289del (p.Gly430AlafsTer?) | gnomAD v4 |
20 | g.63406991C>A | CA409638096 | KCNQ2 | c.2326G>T (p.Gly776Cys) c.2272G>T (p.Gly758Cys) c.1669G>T (p.Gly557Cys) c.2179G>T (p.Gly727Cys) c.1840G>T (p.Gly614Cys) c.2188G>T (p.Gly730Cys) c.2241+55G>T (n.2241+55G>T) c.2205+55G>T (n.2205+55G>T) c.2218G>T (p.Gly740Cys) c.2133+55G>T (n.2133+55G>T) c.1680-6148G>T (n.1680-6148G>T) c.2314G>T (p.Gly772Cys) c.2380G>T (p.Gly794Cys) c.2377G>T (p.Gly793Cys) c.2350G>T (p.Gly784Cys) c.2296G>T (p.Gly766Cys) c.2269G>T (p.Gly757Cys) c.2254G>T (p.Gly752Cys) c.1861G>T (p.Gly621Cys) c.2323G>T (p.Gly775Cys) c.2260G>T (p.Gly754Cys) c.2257G>T (p.Gly753Cys) c.2215G>T (p.Gly739Cys) c.1288G>T (p.Gly430Cys) | |
20 | g.63406991C>G | CA409638098 | KCNQ2 | c.2326G>C (p.Gly776Arg) c.2272G>C (p.Gly758Arg) c.1669G>C (p.Gly557Arg) c.2179G>C (p.Gly727Arg) c.1840G>C (p.Gly614Arg) c.2188G>C (p.Gly730Arg) c.2241+55G>C (n.2241+55G>C) c.2205+55G>C (n.2205+55G>C) c.2218G>C (p.Gly740Arg) c.2133+55G>C (n.2133+55G>C) c.1680-6148G>C (n.1680-6148G>C) c.2314G>C (p.Gly772Arg) c.2380G>C (p.Gly794Arg) c.2377G>C (p.Gly793Arg) c.2350G>C (p.Gly784Arg) c.2296G>C (p.Gly766Arg) c.2269G>C (p.Gly757Arg) c.2254G>C (p.Gly752Arg) c.1861G>C (p.Gly621Arg) c.2323G>C (p.Gly775Arg) c.2260G>C (p.Gly754Arg) c.2257G>C (p.Gly753Arg) c.2215G>C (p.Gly739Arg) c.1288G>C (p.Gly430Arg) | |
20 | g.63406991C>T | CA409638100 | KCNQ2 | c.2326G>A (p.Gly776Ser) c.2272G>A (p.Gly758Ser) c.1669G>A (p.Gly557Ser) c.2179G>A (p.Gly727Ser) c.1840G>A (p.Gly614Ser) c.2188G>A (p.Gly730Ser) c.2241+55G>A (n.2241+55G>A) c.2205+55G>A (n.2205+55G>A) c.2218G>A (p.Gly740Ser) c.2133+55G>A (n.2133+55G>A) c.1680-6148G>A (n.1680-6148G>A) c.2314G>A (p.Gly772Ser) c.2380G>A (p.Gly794Ser) c.2377G>A (p.Gly793Ser) c.2350G>A (p.Gly784Ser) c.2296G>A (p.Gly766Ser) c.2269G>A (p.Gly757Ser) c.2254G>A (p.Gly752Ser) c.1861G>A (p.Gly621Ser) c.2323G>A (p.Gly775Ser) c.2260G>A (p.Gly754Ser) c.2257G>A (p.Gly753Ser) c.2215G>A (p.Gly739Ser) c.1288G>A (p.Gly430Ser) | |
20 | g.63406992C>A | CA511339376 | KCNQ2 | c.2325G>T (p.Gly775=) c.2271G>T (p.Gly757=) c.1668G>T (p.Gly556=) c.2178G>T (p.Gly726=) c.1839G>T (p.Gly613=) c.2187G>T (p.Gly729=) c.2241+54G>T (n.2241+54G>T) c.2205+54G>T (n.2205+54G>T) c.2217G>T (p.Gly739=) c.2133+54G>T (n.2133+54G>T) c.1680-6149G>T (n.1680-6149G>T) c.2313G>T (p.Gly771=) c.2379G>T (p.Gly793=) c.2376G>T (p.Gly792=) c.2349G>T (p.Gly783=) c.2295G>T (p.Gly765=) c.2268G>T (p.Gly756=) c.2253G>T (p.Gly751=) c.1860G>T (p.Gly620=) c.2322G>T (p.Gly774=) c.2259G>T (p.Gly753=) c.2256G>T (p.Gly752=) c.2214G>T (p.Gly738=) c.1287G>T (p.Gly429=) | gnomAD v4 |
20 | g.63406992C>G | CA511339377 | KCNQ2 | c.2325G>C (p.Gly775=) c.2271G>C (p.Gly757=) c.1668G>C (p.Gly556=) c.2178G>C (p.Gly726=) c.1839G>C (p.Gly613=) c.2187G>C (p.Gly729=) c.2241+54G>C (n.2241+54G>C) c.2205+54G>C (n.2205+54G>C) c.2217G>C (p.Gly739=) c.2133+54G>C (n.2133+54G>C) c.1680-6149G>C (n.1680-6149G>C) c.2313G>C (p.Gly771=) c.2379G>C (p.Gly793=) c.2376G>C (p.Gly792=) c.2349G>C (p.Gly783=) c.2295G>C (p.Gly765=) c.2268G>C (p.Gly756=) c.2253G>C (p.Gly751=) c.1860G>C (p.Gly620=) c.2322G>C (p.Gly774=) c.2259G>C (p.Gly753=) c.2256G>C (p.Gly752=) c.2214G>C (p.Gly738=) c.1287G>C (p.Gly429=) | gnomAD v4 |
20 | g.63406992C>T | CA511339378 | KCNQ2 | c.2325G>A (p.Gly775=) c.2271G>A (p.Gly757=) c.1668G>A (p.Gly556=) c.2178G>A (p.Gly726=) c.1839G>A (p.Gly613=) c.2187G>A (p.Gly729=) c.2241+54G>A (n.2241+54G>A) c.2205+54G>A (n.2205+54G>A) c.2217G>A (p.Gly739=) c.2133+54G>A (n.2133+54G>A) c.1680-6149G>A (n.1680-6149G>A) c.2313G>A (p.Gly771=) c.2379G>A (p.Gly793=) c.2376G>A (p.Gly792=) c.2349G>A (p.Gly783=) c.2295G>A (p.Gly765=) c.2268G>A (p.Gly756=) c.2253G>A (p.Gly751=) c.1860G>A (p.Gly620=) c.2322G>A (p.Gly774=) c.2259G>A (p.Gly753=) c.2256G>A (p.Gly752=) c.2214G>A (p.Gly738=) c.1287G>A (p.Gly429=) | ClinVar dbSNP gnomAD v4 |
20 | g.63406994_63406997del | CA2580616358 | KCNQ2 | c.2322_2325del (p.Gly775AlafsTer?) c.2268_2271del (p.Gly757AlafsTer?) c.1665_1668del (p.Gly556AlafsTer?) c.2175_2178del (p.Gly726AlafsTer?) c.1836_1839del (p.Gly613AlafsTer?) c.2184_2187del (p.Gly729AlafsTer?) c.2241+51_2241+54del (n.2241+51_2241+54del) c.2205+51_2205+54del (n.2205+51_2205+54del) c.2214_2217del (p.Gly739AlafsTer?) c.2133+51_2133+54del (n.2133+51_2133+54del) c.1680-6152_1680-6149del (n.1680-6152_1680-6149del) c.2310_2313del (p.Gly771AlafsTer?) c.2376_2379del (p.Gly793AlafsTer?) c.2373_2376del (p.Gly792AlafsTer?) c.2346_2349del (p.Gly783AlafsTer?) c.2292_2295del (p.Gly765AlafsTer?) c.2265_2268del (p.Gly756AlafsTer?) c.2250_2253del (p.Gly751AlafsTer?) c.1857_1860del (p.Gly620AlafsTer?) c.2319_2322del (p.Gly774AlafsTer?) c.2256_2259del (p.Gly753AlafsTer?) c.2253_2256del (p.Gly752AlafsTer?) c.2211_2214del (p.Gly738AlafsTer?) c.1284_1287del (p.Gly429AlafsTer?) | ClinVar |
20 | g.63406993C>A | CA409638104 | KCNQ2 | c.2324G>T (p.Gly775Val) c.2270G>T (p.Gly757Val) c.1667G>T (p.Gly556Val) c.2177G>T (p.Gly726Val) c.1838G>T (p.Gly613Val) c.2186G>T (p.Gly729Val) c.2241+53G>T (n.2241+53G>T) c.2205+53G>T (n.2205+53G>T) c.2216G>T (p.Gly739Val) c.2133+53G>T (n.2133+53G>T) c.1680-6150G>T (n.1680-6150G>T) c.2312G>T (p.Gly771Val) c.2378G>T (p.Gly793Val) c.2375G>T (p.Gly792Val) c.2348G>T (p.Gly783Val) c.2294G>T (p.Gly765Val) c.2267G>T (p.Gly756Val) c.2252G>T (p.Gly751Val) c.1859G>T (p.Gly620Val) c.2321G>T (p.Gly774Val) c.2258G>T (p.Gly753Val) c.2255G>T (p.Gly752Val) c.2213G>T (p.Gly738Val) c.1286G>T (p.Gly429Val) | gnomAD v4 |
20 | g.63406993C>G | CA409638106 | KCNQ2 | c.2324G>C (p.Gly775Ala) c.2270G>C (p.Gly757Ala) c.1667G>C (p.Gly556Ala) c.2177G>C (p.Gly726Ala) c.1838G>C (p.Gly613Ala) c.2186G>C (p.Gly729Ala) c.2241+53G>C (n.2241+53G>C) c.2205+53G>C (n.2205+53G>C) c.2216G>C (p.Gly739Ala) c.2133+53G>C (n.2133+53G>C) c.1680-6150G>C (n.1680-6150G>C) c.2312G>C (p.Gly771Ala) c.2378G>C (p.Gly793Ala) c.2375G>C (p.Gly792Ala) c.2348G>C (p.Gly783Ala) c.2294G>C (p.Gly765Ala) c.2267G>C (p.Gly756Ala) c.2252G>C (p.Gly751Ala) c.1859G>C (p.Gly620Ala) c.2321G>C (p.Gly774Ala) c.2258G>C (p.Gly753Ala) c.2255G>C (p.Gly752Ala) c.2213G>C (p.Gly738Ala) c.1286G>C (p.Gly429Ala) | |
20 | g.63406993C>T | CA409638102 | KCNQ2 | c.2324G>A (p.Gly775Glu) c.2270G>A (p.Gly757Glu) c.1667G>A (p.Gly556Glu) c.2177G>A (p.Gly726Glu) c.1838G>A (p.Gly613Glu) c.2186G>A (p.Gly729Glu) c.2241+53G>A (n.2241+53G>A) c.2205+53G>A (n.2205+53G>A) c.2216G>A (p.Gly739Glu) c.2133+53G>A (n.2133+53G>A) c.1680-6150G>A (n.1680-6150G>A) c.2312G>A (p.Gly771Glu) c.2378G>A (p.Gly793Glu) c.2375G>A (p.Gly792Glu) c.2348G>A (p.Gly783Glu) c.2294G>A (p.Gly765Glu) c.2267G>A (p.Gly756Glu) c.2252G>A (p.Gly751Glu) c.1859G>A (p.Gly620Glu) c.2321G>A (p.Gly774Glu) c.2258G>A (p.Gly753Glu) c.2255G>A (p.Gly752Glu) c.2213G>A (p.Gly738Glu) c.1286G>A (p.Gly429Glu) | gnomAD v4 |
20 | g.63406994C>A | CA409638108 | KCNQ2 | c.2323G>T (p.Gly775Trp) c.2269G>T (p.Gly757Trp) c.1666G>T (p.Gly556Trp) c.2176G>T (p.Gly726Trp) c.1837G>T (p.Gly613Trp) c.2185G>T (p.Gly729Trp) c.2241+52G>T (n.2241+52G>T) c.2205+52G>T (n.2205+52G>T) c.2215G>T (p.Gly739Trp) c.2133+52G>T (n.2133+52G>T) c.1680-6151G>T (n.1680-6151G>T) c.2311G>T (p.Gly771Trp) c.2377G>T (p.Gly793Trp) c.2374G>T (p.Gly792Trp) c.2347G>T (p.Gly783Trp) c.2293G>T (p.Gly765Trp) c.2266G>T (p.Gly756Trp) c.2251G>T (p.Gly751Trp) c.1858G>T (p.Gly620Trp) c.2320G>T (p.Gly774Trp) c.2257G>T (p.Gly753Trp) c.2254G>T (p.Gly752Trp) c.2212G>T (p.Gly738Trp) c.1285G>T (p.Gly429Trp) | gnomAD v4 |
20 | g.63406994C>G | CA409638110 | KCNQ2 | c.2323G>C (p.Gly775Arg) c.2269G>C (p.Gly757Arg) c.1666G>C (p.Gly556Arg) c.2176G>C (p.Gly726Arg) c.1837G>C (p.Gly613Arg) c.2185G>C (p.Gly729Arg) c.2241+52G>C (n.2241+52G>C) c.2205+52G>C (n.2205+52G>C) c.2215G>C (p.Gly739Arg) c.2133+52G>C (n.2133+52G>C) c.1680-6151G>C (n.1680-6151G>C) c.2311G>C (p.Gly771Arg) c.2377G>C (p.Gly793Arg) c.2374G>C (p.Gly792Arg) c.2347G>C (p.Gly783Arg) c.2293G>C (p.Gly765Arg) c.2266G>C (p.Gly756Arg) c.2251G>C (p.Gly751Arg) c.1858G>C (p.Gly620Arg) c.2320G>C (p.Gly774Arg) c.2257G>C (p.Gly753Arg) c.2254G>C (p.Gly752Arg) c.2212G>C (p.Gly738Arg) c.1285G>C (p.Gly429Arg) | |
20 | g.63406994C>T | CA409638112 | KCNQ2 | c.2323G>A (p.Gly775Arg) c.2269G>A (p.Gly757Arg) c.1666G>A (p.Gly556Arg) c.2176G>A (p.Gly726Arg) c.1837G>A (p.Gly613Arg) c.2185G>A (p.Gly729Arg) c.2241+52G>A (n.2241+52G>A) c.2205+52G>A (n.2205+52G>A) c.2215G>A (p.Gly739Arg) c.2133+52G>A (n.2133+52G>A) c.1680-6151G>A (n.1680-6151G>A) c.2311G>A (p.Gly771Arg) c.2377G>A (p.Gly793Arg) c.2374G>A (p.Gly792Arg) c.2347G>A (p.Gly783Arg) c.2293G>A (p.Gly765Arg) c.2266G>A (p.Gly756Arg) c.2251G>A (p.Gly751Arg) c.1858G>A (p.Gly620Arg) c.2320G>A (p.Gly774Arg) c.2257G>A (p.Gly753Arg) c.2254G>A (p.Gly752Arg) c.2212G>A (p.Gly738Arg) c.1285G>A (p.Gly429Arg) | gnomAD v4 |
20 | g.63406995G>A | CA9958110 | KCNQ2 | c.2322C>T (p.Gly774=) c.2268C>T (p.Gly756=) c.1665C>T (p.Gly555=) c.2175C>T (p.Gly725=) c.1836C>T (p.Gly612=) c.2184C>T (p.Gly728=) c.2241+51C>T (n.2241+51C>T) c.2205+51C>T (n.2205+51C>T) c.2214C>T (p.Gly738=) c.2133+51C>T (n.2133+51C>T) c.1680-6152C>T (n.1680-6152C>T) c.2310C>T (p.Gly770=) c.2376C>T (p.Gly792=) c.2373C>T (p.Gly791=) c.2346C>T (p.Gly782=) c.2292C>T (p.Gly764=) c.2265C>T (p.Gly755=) c.2250C>T (p.Gly750=) c.1857C>T (p.Gly619=) c.2319C>T (p.Gly773=) c.2256C>T (p.Gly752=) c.2253C>T (p.Gly751=) c.2211C>T (p.Gly737=) c.1284C>T (p.Gly428=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406995G>C | CA511339383 | KCNQ2 | c.2322C>G (p.Gly774=) c.2268C>G (p.Gly756=) c.1665C>G (p.Gly555=) c.2175C>G (p.Gly725=) c.1836C>G (p.Gly612=) c.2184C>G (p.Gly728=) c.2241+51C>G (n.2241+51C>G) c.2205+51C>G (n.2205+51C>G) c.2214C>G (p.Gly738=) c.2133+51C>G (n.2133+51C>G) c.1680-6152C>G (n.1680-6152C>G) c.2310C>G (p.Gly770=) c.2376C>G (p.Gly792=) c.2373C>G (p.Gly791=) c.2346C>G (p.Gly782=) c.2292C>G (p.Gly764=) c.2265C>G (p.Gly755=) c.2250C>G (p.Gly750=) c.1857C>G (p.Gly619=) c.2319C>G (p.Gly773=) c.2256C>G (p.Gly752=) c.2253C>G (p.Gly751=) c.2211C>G (p.Gly737=) c.1284C>G (p.Gly428=) | |
20 | g.63406995G= | CA2374774355 | KCNQ2 | c.2322C= (p.Gly774=) c.2268C= (p.Gly756=) c.1665C= (p.Gly555=) c.2175C= (p.Gly725=) c.1836C= (p.Gly612=) c.2184C= (p.Gly728=) c.2241+51C= (n.2241+51C=) c.2205+51C= (n.2205+51C=) c.2214C= (p.Gly738=) c.2133+51C= (n.2133+51C=) c.1680-6152C= (n.1680-6152C=) c.2310C= (p.Gly770=) c.2376C= (p.Gly792=) c.2373C= (p.Gly791=) c.2346C= (p.Gly782=) c.2292C= (p.Gly764=) c.2265C= (p.Gly755=) c.2250C= (p.Gly750=) c.1857C= (p.Gly619=) c.2319C= (p.Gly773=) c.2256C= (p.Gly752=) c.2253C= (p.Gly751=) c.2211C= (p.Gly737=) c.1284C= (p.Gly428=) | |
20 | g.63406995G>T | CA511339384 | KCNQ2 | c.2322C>A (p.Gly774=) c.2268C>A (p.Gly756=) c.1665C>A (p.Gly555=) c.2175C>A (p.Gly725=) c.1836C>A (p.Gly612=) c.2184C>A (p.Gly728=) c.2241+51C>A (n.2241+51C>A) c.2205+51C>A (n.2205+51C>A) c.2214C>A (p.Gly738=) c.2133+51C>A (n.2133+51C>A) c.1680-6152C>A (n.1680-6152C>A) c.2310C>A (p.Gly770=) c.2376C>A (p.Gly792=) c.2373C>A (p.Gly791=) c.2346C>A (p.Gly782=) c.2292C>A (p.Gly764=) c.2265C>A (p.Gly755=) c.2250C>A (p.Gly750=) c.1857C>A (p.Gly619=) c.2319C>A (p.Gly773=) c.2256C>A (p.Gly752=) c.2253C>A (p.Gly751=) c.2211C>A (p.Gly737=) c.1284C>A (p.Gly428=) | gnomAD v4 |
20 | g.63406996C>A | CA409638115 | KCNQ2 | c.2321G>T (p.Gly774Val) c.2267G>T (p.Gly756Val) c.1664G>T (p.Gly555Val) c.2174G>T (p.Gly725Val) c.1835G>T (p.Gly612Val) c.2183G>T (p.Gly728Val) c.2241+50G>T (n.2241+50G>T) c.2205+50G>T (n.2205+50G>T) c.2213G>T (p.Gly738Val) c.2133+50G>T (n.2133+50G>T) c.1680-6153G>T (n.1680-6153G>T) c.2309G>T (p.Gly770Val) c.2375G>T (p.Gly792Val) c.2372G>T (p.Gly791Val) c.2345G>T (p.Gly782Val) c.2291G>T (p.Gly764Val) c.2264G>T (p.Gly755Val) c.2249G>T (p.Gly750Val) c.1856G>T (p.Gly619Val) c.2318G>T (p.Gly773Val) c.2255G>T (p.Gly752Val) c.2252G>T (p.Gly751Val) c.2210G>T (p.Gly737Val) c.1283G>T (p.Gly428Val) | |
20 | g.63406996C>G | CA409638117 | KCNQ2 | c.2321G>C (p.Gly774Ala) c.2267G>C (p.Gly756Ala) c.1664G>C (p.Gly555Ala) c.2174G>C (p.Gly725Ala) c.1835G>C (p.Gly612Ala) c.2183G>C (p.Gly728Ala) c.2241+50G>C (n.2241+50G>C) c.2205+50G>C (n.2205+50G>C) c.2213G>C (p.Gly738Ala) c.2133+50G>C (n.2133+50G>C) c.1680-6153G>C (n.1680-6153G>C) c.2309G>C (p.Gly770Ala) c.2375G>C (p.Gly792Ala) c.2372G>C (p.Gly791Ala) c.2345G>C (p.Gly782Ala) c.2291G>C (p.Gly764Ala) c.2264G>C (p.Gly755Ala) c.2249G>C (p.Gly750Ala) c.1856G>C (p.Gly619Ala) c.2318G>C (p.Gly773Ala) c.2255G>C (p.Gly752Ala) c.2252G>C (p.Gly751Ala) c.2210G>C (p.Gly737Ala) c.1283G>C (p.Gly428Ala) | |
20 | g.63406996C>T | CA409638118 | KCNQ2 | c.2321G>A (p.Gly774Asp) c.2267G>A (p.Gly756Asp) c.1664G>A (p.Gly555Asp) c.2174G>A (p.Gly725Asp) c.1835G>A (p.Gly612Asp) c.2183G>A (p.Gly728Asp) c.2241+50G>A (n.2241+50G>A) c.2205+50G>A (n.2205+50G>A) c.2213G>A (p.Gly738Asp) c.2133+50G>A (n.2133+50G>A) c.1680-6153G>A (n.1680-6153G>A) c.2309G>A (p.Gly770Asp) c.2375G>A (p.Gly792Asp) c.2372G>A (p.Gly791Asp) c.2345G>A (p.Gly782Asp) c.2291G>A (p.Gly764Asp) c.2264G>A (p.Gly755Asp) c.2249G>A (p.Gly750Asp) c.1856G>A (p.Gly619Asp) c.2318G>A (p.Gly773Asp) c.2255G>A (p.Gly752Asp) c.2252G>A (p.Gly751Asp) c.2210G>A (p.Gly737Asp) c.1283G>A (p.Gly428Asp) | |
20 | g.63406997C>A | CA409638120 | KCNQ2 | c.2320G>T (p.Gly774Cys) c.2266G>T (p.Gly756Cys) c.1663G>T (p.Gly555Cys) c.2173G>T (p.Gly725Cys) c.1834G>T (p.Gly612Cys) c.2182G>T (p.Gly728Cys) c.2241+49G>T (n.2241+49G>T) c.2205+49G>T (n.2205+49G>T) c.2212G>T (p.Gly738Cys) c.2133+49G>T (n.2133+49G>T) c.1680-6154G>T (n.1680-6154G>T) c.2308G>T (p.Gly770Cys) c.2374G>T (p.Gly792Cys) c.2371G>T (p.Gly791Cys) c.2344G>T (p.Gly782Cys) c.2290G>T (p.Gly764Cys) c.2263G>T (p.Gly755Cys) c.2248G>T (p.Gly750Cys) c.1855G>T (p.Gly619Cys) c.2317G>T (p.Gly773Cys) c.2254G>T (p.Gly752Cys) c.2251G>T (p.Gly751Cys) c.2209G>T (p.Gly737Cys) c.1282G>T (p.Gly428Cys) | gnomAD v4 |
20 | g.63406997C= | CA2374774356 | KCNQ2 | c.2320G= (p.Gly774=) c.2266G= (p.Gly756=) c.1663G= (p.Gly555=) c.2173G= (p.Gly725=) c.1834G= (p.Gly612=) c.2182G= (p.Gly728=) c.2241+49G= (n.2241+49G=) c.2205+49G= (n.2205+49G=) c.2212G= (p.Gly738=) c.2133+49G= (n.2133+49G=) c.1680-6154G= (n.1680-6154G=) c.2308G= (p.Gly770=) c.2374G= (p.Gly792=) c.2371G= (p.Gly791=) c.2344G= (p.Gly782=) c.2290G= (p.Gly764=) c.2263G= (p.Gly755=) c.2248G= (p.Gly750=) c.1855G= (p.Gly619=) c.2317G= (p.Gly773=) c.2254G= (p.Gly752=) c.2251G= (p.Gly751=) c.2209G= (p.Gly737=) c.1282G= (p.Gly428=) | |
20 | g.63406997C>G | CA409638122 | KCNQ2 | c.2320G>C (p.Gly774Arg) c.2266G>C (p.Gly756Arg) c.1663G>C (p.Gly555Arg) c.2173G>C (p.Gly725Arg) c.1834G>C (p.Gly612Arg) c.2182G>C (p.Gly728Arg) c.2241+49G>C (n.2241+49G>C) c.2205+49G>C (n.2205+49G>C) c.2212G>C (p.Gly738Arg) c.2133+49G>C (n.2133+49G>C) c.1680-6154G>C (n.1680-6154G>C) c.2308G>C (p.Gly770Arg) c.2374G>C (p.Gly792Arg) c.2371G>C (p.Gly791Arg) c.2344G>C (p.Gly782Arg) c.2290G>C (p.Gly764Arg) c.2263G>C (p.Gly755Arg) c.2248G>C (p.Gly750Arg) c.1855G>C (p.Gly619Arg) c.2317G>C (p.Gly773Arg) c.2254G>C (p.Gly752Arg) c.2251G>C (p.Gly751Arg) c.2209G>C (p.Gly737Arg) c.1282G>C (p.Gly428Arg) | |
20 | g.63406997C>T | CA315315 | KCNQ2 | c.2320G>A (p.Gly774Ser) c.2266G>A (p.Gly756Ser) c.1663G>A (p.Gly555Ser) c.2173G>A (p.Gly725Ser) c.1834G>A (p.Gly612Ser) c.2182G>A (p.Gly728Ser) c.2241+49G>A (n.2241+49G>A) c.2205+49G>A (n.2205+49G>A) c.2212G>A (p.Gly738Ser) c.2133+49G>A (n.2133+49G>A) c.1680-6154G>A (n.1680-6154G>A) c.2308G>A (p.Gly770Ser) c.2374G>A (p.Gly792Ser) c.2371G>A (p.Gly791Ser) c.2344G>A (p.Gly782Ser) c.2290G>A (p.Gly764Ser) c.2263G>A (p.Gly755Ser) c.2248G>A (p.Gly750Ser) c.1855G>A (p.Gly619Ser) c.2317G>A (p.Gly773Ser) c.2254G>A (p.Gly752Ser) c.2251G>A (p.Gly751Ser) c.2209G>A (p.Gly737Ser) c.1282G>A (p.Gly428Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406998G>A | CA9958111 | KCNQ2 | c.2319C>T (p.Tyr773=) c.2265C>T (p.Tyr755=) c.1662C>T (p.Tyr554=) c.2172C>T (p.Tyr724=) c.1833C>T (p.Tyr611=) c.2181C>T (p.Tyr727=) c.2241+48C>T (n.2241+48C>T) c.2205+48C>T (n.2205+48C>T) c.2211C>T (p.Tyr737=) c.2133+48C>T (n.2133+48C>T) c.1680-6155C>T (n.1680-6155C>T) c.2307C>T (p.Tyr769=) c.2373C>T (p.Tyr791=) c.2370C>T (p.Tyr790=) c.2343C>T (p.Tyr781=) c.2289C>T (p.Tyr763=) c.2262C>T (p.Tyr754=) c.2247C>T (p.Tyr749=) c.1854C>T (p.Tyr618=) c.2316C>T (p.Tyr772=) c.2253C>T (p.Tyr751=) c.2250C>T (p.Tyr750=) c.2208C>T (p.Tyr736=) c.1281C>T (p.Tyr427=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406998G>C | CA409638126 | KCNQ2 | c.2319C>G (p.Tyr773Ter) c.2265C>G (p.Tyr755Ter) c.1662C>G (p.Tyr554Ter) c.2172C>G (p.Tyr724Ter) c.1833C>G (p.Tyr611Ter) c.2181C>G (p.Tyr727Ter) c.2241+48C>G (n.2241+48C>G) c.2205+48C>G (n.2205+48C>G) c.2211C>G (p.Tyr737Ter) c.2133+48C>G (n.2133+48C>G) c.1680-6155C>G (n.1680-6155C>G) c.2307C>G (p.Tyr769Ter) c.2373C>G (p.Tyr791Ter) c.2370C>G (p.Tyr790Ter) c.2343C>G (p.Tyr781Ter) c.2289C>G (p.Tyr763Ter) c.2262C>G (p.Tyr754Ter) c.2247C>G (p.Tyr749Ter) c.1854C>G (p.Tyr618Ter) c.2316C>G (p.Tyr772Ter) c.2253C>G (p.Tyr751Ter) c.2250C>G (p.Tyr750Ter) c.2208C>G (p.Tyr736Ter) c.1281C>G (p.Tyr427Ter) | |
20 | g.63406998G= | CA2374774357 | KCNQ2 | c.2319C= (p.Tyr773=) c.2265C= (p.Tyr755=) c.1662C= (p.Tyr554=) c.2172C= (p.Tyr724=) c.1833C= (p.Tyr611=) c.2181C= (p.Tyr727=) c.2241+48C= (n.2241+48C=) c.2205+48C= (n.2205+48C=) c.2211C= (p.Tyr737=) c.2133+48C= (n.2133+48C=) c.1680-6155C= (n.1680-6155C=) c.2307C= (p.Tyr769=) c.2373C= (p.Tyr791=) c.2370C= (p.Tyr790=) c.2343C= (p.Tyr781=) c.2289C= (p.Tyr763=) c.2262C= (p.Tyr754=) c.2247C= (p.Tyr749=) c.1854C= (p.Tyr618=) c.2316C= (p.Tyr772=) c.2253C= (p.Tyr751=) c.2250C= (p.Tyr750=) c.2208C= (p.Tyr736=) c.1281C= (p.Tyr427=) | |
20 | g.63406998G>T | CA409638128 | KCNQ2 | c.2319C>A (p.Tyr773Ter) c.2265C>A (p.Tyr755Ter) c.1662C>A (p.Tyr554Ter) c.2172C>A (p.Tyr724Ter) c.1833C>A (p.Tyr611Ter) c.2181C>A (p.Tyr727Ter) c.2241+48C>A (n.2241+48C>A) c.2205+48C>A (n.2205+48C>A) c.2211C>A (p.Tyr737Ter) c.2133+48C>A (n.2133+48C>A) c.1680-6155C>A (n.1680-6155C>A) c.2307C>A (p.Tyr769Ter) c.2373C>A (p.Tyr791Ter) c.2370C>A (p.Tyr790Ter) c.2343C>A (p.Tyr781Ter) c.2289C>A (p.Tyr763Ter) c.2262C>A (p.Tyr754Ter) c.2247C>A (p.Tyr749Ter) c.1854C>A (p.Tyr618Ter) c.2316C>A (p.Tyr772Ter) c.2253C>A (p.Tyr751Ter) c.2250C>A (p.Tyr750Ter) c.2208C>A (p.Tyr736Ter) c.1281C>A (p.Tyr427Ter) | gnomAD v4 |
20 | g.63406999T>A | CA409638133 | KCNQ2 | c.2318A>T (p.Tyr773Phe) c.2264A>T (p.Tyr755Phe) c.1661A>T (p.Tyr554Phe) c.2171A>T (p.Tyr724Phe) c.1832A>T (p.Tyr611Phe) c.2180A>T (p.Tyr727Phe) c.2241+47A>T (n.2241+47A>T) c.2205+47A>T (n.2205+47A>T) c.2210A>T (p.Tyr737Phe) c.2133+47A>T (n.2133+47A>T) c.1680-6156A>T (n.1680-6156A>T) c.2306A>T (p.Tyr769Phe) c.2372A>T (p.Tyr791Phe) c.2369A>T (p.Tyr790Phe) c.2342A>T (p.Tyr781Phe) c.2288A>T (p.Tyr763Phe) c.2261A>T (p.Tyr754Phe) c.2246A>T (p.Tyr749Phe) c.1853A>T (p.Tyr618Phe) c.2315A>T (p.Tyr772Phe) c.2252A>T (p.Tyr751Phe) c.2249A>T (p.Tyr750Phe) c.2207A>T (p.Tyr736Phe) c.1280A>T (p.Tyr427Phe) | |
20 | g.63406999T>C | CA240975 | KCNQ2 | c.2318A>G (p.Tyr773Cys) c.2264A>G (p.Tyr755Cys) c.1661A>G (p.Tyr554Cys) c.2171A>G (p.Tyr724Cys) c.1832A>G (p.Tyr611Cys) c.2180A>G (p.Tyr727Cys) c.2241+47A>G (n.2241+47A>G) c.2205+47A>G (n.2205+47A>G) c.2210A>G (p.Tyr737Cys) c.2133+47A>G (n.2133+47A>G) c.1680-6156A>G (n.1680-6156A>G) c.2306A>G (p.Tyr769Cys) c.2372A>G (p.Tyr791Cys) c.2369A>G (p.Tyr790Cys) c.2342A>G (p.Tyr781Cys) c.2288A>G (p.Tyr763Cys) c.2261A>G (p.Tyr754Cys) c.2246A>G (p.Tyr749Cys) c.1853A>G (p.Tyr618Cys) c.2315A>G (p.Tyr772Cys) c.2252A>G (p.Tyr751Cys) c.2249A>G (p.Tyr750Cys) c.2207A>G (p.Tyr736Cys) c.1280A>G (p.Tyr427Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406999T>G | CA409638130 | KCNQ2 | c.2318A>C (p.Tyr773Ser) c.2264A>C (p.Tyr755Ser) c.1661A>C (p.Tyr554Ser) c.2171A>C (p.Tyr724Ser) c.1832A>C (p.Tyr611Ser) c.2180A>C (p.Tyr727Ser) c.2241+47A>C (n.2241+47A>C) c.2205+47A>C (n.2205+47A>C) c.2210A>C (p.Tyr737Ser) c.2133+47A>C (n.2133+47A>C) c.1680-6156A>C (n.1680-6156A>C) c.2306A>C (p.Tyr769Ser) c.2372A>C (p.Tyr791Ser) c.2369A>C (p.Tyr790Ser) c.2342A>C (p.Tyr781Ser) c.2288A>C (p.Tyr763Ser) c.2261A>C (p.Tyr754Ser) c.2246A>C (p.Tyr749Ser) c.1853A>C (p.Tyr618Ser) c.2315A>C (p.Tyr772Ser) c.2252A>C (p.Tyr751Ser) c.2249A>C (p.Tyr750Ser) c.2207A>C (p.Tyr736Ser) c.1280A>C (p.Tyr427Ser) | |
20 | g.63406999T= | CA2374774360 | KCNQ2 | c.2318A= (p.Tyr773=) c.2264A= (p.Tyr755=) c.1661A= (p.Tyr554=) c.2171A= (p.Tyr724=) c.1832A= (p.Tyr611=) c.2180A= (p.Tyr727=) c.2241+47A= (n.2241+47A=) c.2205+47A= (n.2205+47A=) c.2210A= (p.Tyr737=) c.2133+47A= (n.2133+47A=) c.1680-6156A= (n.1680-6156A=) c.2306A= (p.Tyr769=) c.2372A= (p.Tyr791=) c.2369A= (p.Tyr790=) c.2342A= (p.Tyr781=) c.2288A= (p.Tyr763=) c.2261A= (p.Tyr754=) c.2246A= (p.Tyr749=) c.1853A= (p.Tyr618=) c.2315A= (p.Tyr772=) c.2252A= (p.Tyr751=) c.2249A= (p.Tyr750=) c.2207A= (p.Tyr736=) c.1280A= (p.Tyr427=) | |
20 | g.63406999_63407000delinsCT | CA2374774359 | KCNQ2 | c.2317_2318delinsAG (p.Tyr773Ser) c.2263_2264delinsAG (p.Tyr755Ser) c.1660_1661delinsAG (p.Tyr554Ser) c.2170_2171delinsAG (p.Tyr724Ser) c.1831_1832delinsAG (p.Tyr611Ser) c.2179_2180delinsAG (p.Tyr727Ser) c.2241+46_2241+47delinsAG (n.2241+46_2241+47delinsAG) c.2205+46_2205+47delinsAG (n.2205+46_2205+47delinsAG) c.2209_2210delinsAG (p.Tyr737Ser) c.2133+46_2133+47delinsAG (n.2133+46_2133+47delinsAG) c.1680-6157_1680-6156delinsAG (n.1680-6157_1680-6156delinsAG) c.2305_2306delinsAG (p.Tyr769Ser) c.2371_2372delinsAG (p.Tyr791Ser) c.2368_2369delinsAG (p.Tyr790Ser) c.2341_2342delinsAG (p.Tyr781Ser) c.2287_2288delinsAG (p.Tyr763Ser) c.2260_2261delinsAG (p.Tyr754Ser) c.2245_2246delinsAG (p.Tyr749Ser) c.1852_1853delinsAG (p.Tyr618Ser) c.2314_2315delinsAG (p.Tyr772Ser) c.2251_2252delinsAG (p.Tyr751Ser) c.2248_2249delinsAG (p.Tyr750Ser) c.2206_2207delinsAG (p.Tyr736Ser) c.1279_1280delinsAG (p.Tyr427Ser) | dbSNP |
20 | g.63406999_63407000delinsTA | CA2374774358 | KCNQ2 | c.2317_2318delinsTA (p.Tyr773=) c.2263_2264delinsTA (p.Tyr755=) c.1660_1661delinsTA (p.Tyr554=) c.2170_2171delinsTA (p.Tyr724=) c.1831_1832delinsTA (p.Tyr611=) c.2179_2180delinsTA (p.Tyr727=) c.2241+46_2241+47delinsTA (n.2241+46_2241+47delinsTA) c.2205+46_2205+47delinsTA (n.2205+46_2205+47delinsTA) c.2209_2210delinsTA (p.Tyr737=) c.2133+46_2133+47delinsTA (n.2133+46_2133+47delinsTA) c.1680-6157_1680-6156delinsTA (n.1680-6157_1680-6156delinsTA) c.2305_2306delinsTA (p.Tyr769=) c.2371_2372delinsTA (p.Tyr791=) c.2368_2369delinsTA (p.Tyr790=) c.2341_2342delinsTA (p.Tyr781=) c.2287_2288delinsTA (p.Tyr763=) c.2260_2261delinsTA (p.Tyr754=) c.2245_2246delinsTA (p.Tyr749=) c.1852_1853delinsTA (p.Tyr618=) c.2314_2315delinsTA (p.Tyr772=) c.2251_2252delinsTA (p.Tyr751=) c.2248_2249delinsTA (p.Tyr750=) c.2206_2207delinsTA (p.Tyr736=) c.1279_1280delinsTA (p.Tyr427=) | |
20 | g.63407000A>C | CA409638135 | KCNQ2 | c.2317T>G (p.Tyr773Asp) c.2263T>G (p.Tyr755Asp) c.1660T>G (p.Tyr554Asp) c.2170T>G (p.Tyr724Asp) c.1831T>G (p.Tyr611Asp) c.2179T>G (p.Tyr727Asp) c.2241+46T>G (n.2241+46T>G) c.2205+46T>G (n.2205+46T>G) c.2209T>G (p.Tyr737Asp) c.2133+46T>G (n.2133+46T>G) c.1680-6157T>G (n.1680-6157T>G) c.2305T>G (p.Tyr769Asp) c.2371T>G (p.Tyr791Asp) c.2368T>G (p.Tyr790Asp) c.2341T>G (p.Tyr781Asp) c.2287T>G (p.Tyr763Asp) c.2260T>G (p.Tyr754Asp) c.2245T>G (p.Tyr749Asp) c.1852T>G (p.Tyr618Asp) c.2314T>G (p.Tyr772Asp) c.2251T>G (p.Tyr751Asp) c.2248T>G (p.Tyr750Asp) c.2206T>G (p.Tyr736Asp) c.1279T>G (p.Tyr427Asp) | |
20 | g.63407000A>G | CA409638136 | KCNQ2 | c.2317T>C (p.Tyr773His) c.2263T>C (p.Tyr755His) c.1660T>C (p.Tyr554His) c.2170T>C (p.Tyr724His) c.1831T>C (p.Tyr611His) c.2179T>C (p.Tyr727His) c.2241+46T>C (n.2241+46T>C) c.2205+46T>C (n.2205+46T>C) c.2209T>C (p.Tyr737His) c.2133+46T>C (n.2133+46T>C) c.1680-6157T>C (n.1680-6157T>C) c.2305T>C (p.Tyr769His) c.2371T>C (p.Tyr791His) c.2368T>C (p.Tyr790His) c.2341T>C (p.Tyr781His) c.2287T>C (p.Tyr763His) c.2260T>C (p.Tyr754His) c.2245T>C (p.Tyr749His) c.1852T>C (p.Tyr618His) c.2314T>C (p.Tyr772His) c.2251T>C (p.Tyr751His) c.2248T>C (p.Tyr750His) c.2206T>C (p.Tyr736His) c.1279T>C (p.Tyr427His) | gnomAD v4 |
20 | g.63407000A>T | CA409638138 | KCNQ2 | c.2317T>A (p.Tyr773Asn) c.2263T>A (p.Tyr755Asn) c.1660T>A (p.Tyr554Asn) c.2170T>A (p.Tyr724Asn) c.1831T>A (p.Tyr611Asn) c.2179T>A (p.Tyr727Asn) c.2241+46T>A (n.2241+46T>A) c.2205+46T>A (n.2205+46T>A) c.2209T>A (p.Tyr737Asn) c.2133+46T>A (n.2133+46T>A) c.1680-6157T>A (n.1680-6157T>A) c.2305T>A (p.Tyr769Asn) c.2371T>A (p.Tyr791Asn) c.2368T>A (p.Tyr790Asn) c.2341T>A (p.Tyr781Asn) c.2287T>A (p.Tyr763Asn) c.2260T>A (p.Tyr754Asn) c.2245T>A (p.Tyr749Asn) c.1852T>A (p.Tyr618Asn) c.2314T>A (p.Tyr772Asn) c.2251T>A (p.Tyr751Asn) c.2248T>A (p.Tyr750Asn) c.2206T>A (p.Tyr736Asn) c.1279T>A (p.Tyr427Asn) | |
20 | g.63407001G>A | CA9958112 | KCNQ2 | c.2316C>T (p.Ala772=) c.2262C>T (p.Ala754=) c.1659C>T (p.Ala553=) c.2169C>T (p.Ala723=) c.1830C>T (p.Ala610=) c.2178C>T (p.Ala726=) c.2241+45C>T (n.2241+45C>T) c.2205+45C>T (n.2205+45C>T) c.2208C>T (p.Ala736=) c.2133+45C>T (n.2133+45C>T) c.1680-6158C>T (n.1680-6158C>T) c.2304C>T (p.Ala768=) c.2370C>T (p.Ala790=) c.2367C>T (p.Ala789=) c.2340C>T (p.Ala780=) c.2286C>T (p.Ala762=) c.2259C>T (p.Ala753=) c.2244C>T (p.Ala748=) c.1851C>T (p.Ala617=) c.2313C>T (p.Ala771=) c.2250C>T (p.Ala750=) c.2247C>T (p.Ala749=) c.2205C>T (p.Ala735=) c.1278C>T (p.Ala426=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63407001G>C | CA511339391 | KCNQ2 | c.2316C>G (p.Ala772=) c.2262C>G (p.Ala754=) c.1659C>G (p.Ala553=) c.2169C>G (p.Ala723=) c.1830C>G (p.Ala610=) c.2178C>G (p.Ala726=) c.2241+45C>G (n.2241+45C>G) c.2205+45C>G (n.2205+45C>G) c.2208C>G (p.Ala736=) c.2133+45C>G (n.2133+45C>G) c.1680-6158C>G (n.1680-6158C>G) c.2304C>G (p.Ala768=) c.2370C>G (p.Ala790=) c.2367C>G (p.Ala789=) c.2340C>G (p.Ala780=) c.2286C>G (p.Ala762=) c.2259C>G (p.Ala753=) c.2244C>G (p.Ala748=) c.1851C>G (p.Ala617=) c.2313C>G (p.Ala771=) c.2250C>G (p.Ala750=) c.2247C>G (p.Ala749=) c.2205C>G (p.Ala735=) c.1278C>G (p.Ala426=) | |
20 | g.63407001G= | CA2374774361 | KCNQ2 | c.2316C= (p.Ala772=) c.2262C= (p.Ala754=) c.1659C= (p.Ala553=) c.2169C= (p.Ala723=) c.1830C= (p.Ala610=) c.2178C= (p.Ala726=) c.2241+45C= (n.2241+45C=) c.2205+45C= (n.2205+45C=) c.2208C= (p.Ala736=) c.2133+45C= (n.2133+45C=) c.1680-6158C= (n.1680-6158C=) c.2304C= (p.Ala768=) c.2370C= (p.Ala790=) c.2367C= (p.Ala789=) c.2340C= (p.Ala780=) c.2286C= (p.Ala762=) c.2259C= (p.Ala753=) c.2244C= (p.Ala748=) c.1851C= (p.Ala617=) c.2313C= (p.Ala771=) c.2250C= (p.Ala750=) c.2247C= (p.Ala749=) c.2205C= (p.Ala735=) c.1278C= (p.Ala426=) | |
20 | g.63407001G>T | CA511339392 | KCNQ2 | c.2316C>A (p.Ala772=) c.2262C>A (p.Ala754=) c.1659C>A (p.Ala553=) c.2169C>A (p.Ala723=) c.1830C>A (p.Ala610=) c.2178C>A (p.Ala726=) c.2241+45C>A (n.2241+45C>A) c.2205+45C>A (n.2205+45C>A) c.2208C>A (p.Ala736=) c.2133+45C>A (n.2133+45C>A) c.1680-6158C>A (n.1680-6158C>A) c.2304C>A (p.Ala768=) c.2370C>A (p.Ala790=) c.2367C>A (p.Ala789=) c.2340C>A (p.Ala780=) c.2286C>A (p.Ala762=) c.2259C>A (p.Ala753=) c.2244C>A (p.Ala748=) c.1851C>A (p.Ala617=) c.2313C>A (p.Ala771=) c.2250C>A (p.Ala750=) c.2247C>A (p.Ala749=) c.2205C>A (p.Ala735=) c.1278C>A (p.Ala426=) | gnomAD v4 |
20 | g.63407002G>A | CA409638147 | KCNQ2 | c.2315C>T (p.Ala772Val) c.2261C>T (p.Ala754Val) c.1658C>T (p.Ala553Val) c.2168C>T (p.Ala723Val) c.1829C>T (p.Ala610Val) c.2177C>T (p.Ala726Val) c.2241+44C>T (n.2241+44C>T) c.2205+44C>T (n.2205+44C>T) c.2207C>T (p.Ala736Val) c.2133+44C>T (n.2133+44C>T) c.1680-6159C>T (n.1680-6159C>T) c.2303C>T (p.Ala768Val) c.2369C>T (p.Ala790Val) c.2366C>T (p.Ala789Val) c.2339C>T (p.Ala780Val) c.2285C>T (p.Ala762Val) c.2258C>T (p.Ala753Val) c.2243C>T (p.Ala748Val) c.1850C>T (p.Ala617Val) c.2312C>T (p.Ala771Val) c.2249C>T (p.Ala750Val) c.2246C>T (p.Ala749Val) c.2204C>T (p.Ala735Val) c.1277C>T (p.Ala426Val) | gnomAD v4 |
20 | g.63407002G>C | CA409638150 | KCNQ2 | c.2315C>G (p.Ala772Gly) c.2261C>G (p.Ala754Gly) c.1658C>G (p.Ala553Gly) c.2168C>G (p.Ala723Gly) c.1829C>G (p.Ala610Gly) c.2177C>G (p.Ala726Gly) c.2241+44C>G (n.2241+44C>G) c.2205+44C>G (n.2205+44C>G) c.2207C>G (p.Ala736Gly) c.2133+44C>G (n.2133+44C>G) c.1680-6159C>G (n.1680-6159C>G) c.2303C>G (p.Ala768Gly) c.2369C>G (p.Ala790Gly) c.2366C>G (p.Ala789Gly) c.2339C>G (p.Ala780Gly) c.2285C>G (p.Ala762Gly) c.2258C>G (p.Ala753Gly) c.2243C>G (p.Ala748Gly) c.1850C>G (p.Ala617Gly) c.2312C>G (p.Ala771Gly) c.2249C>G (p.Ala750Gly) c.2246C>G (p.Ala749Gly) c.2204C>G (p.Ala735Gly) c.1277C>G (p.Ala426Gly) | |
20 | g.63407002G>T | CA409638153 | KCNQ2 | c.2315C>A (p.Ala772Asp) c.2261C>A (p.Ala754Asp) c.1658C>A (p.Ala553Asp) c.2168C>A (p.Ala723Asp) c.1829C>A (p.Ala610Asp) c.2177C>A (p.Ala726Asp) c.2241+44C>A (n.2241+44C>A) c.2205+44C>A (n.2205+44C>A) c.2207C>A (p.Ala736Asp) c.2133+44C>A (n.2133+44C>A) c.1680-6159C>A (n.1680-6159C>A) c.2303C>A (p.Ala768Asp) c.2369C>A (p.Ala790Asp) c.2366C>A (p.Ala789Asp) c.2339C>A (p.Ala780Asp) c.2285C>A (p.Ala762Asp) c.2258C>A (p.Ala753Asp) c.2243C>A (p.Ala748Asp) c.1850C>A (p.Ala617Asp) c.2312C>A (p.Ala771Asp) c.2249C>A (p.Ala750Asp) c.2246C>A (p.Ala749Asp) c.2204C>A (p.Ala735Asp) c.1277C>A (p.Ala426Asp) | gnomAD v4 |
20 | g.63407003C>A | CA409638159 | KCNQ2 | c.2314G>T (p.Ala772Ser) c.2260G>T (p.Ala754Ser) c.1657G>T (p.Ala553Ser) c.2167G>T (p.Ala723Ser) c.1828G>T (p.Ala610Ser) c.2176G>T (p.Ala726Ser) c.2241+43G>T (n.2241+43G>T) c.2205+43G>T (n.2205+43G>T) c.2206G>T (p.Ala736Ser) c.2133+43G>T (n.2133+43G>T) c.1680-6160G>T (n.1680-6160G>T) c.2302G>T (p.Ala768Ser) c.2368G>T (p.Ala790Ser) c.2365G>T (p.Ala789Ser) c.2338G>T (p.Ala780Ser) c.2284G>T (p.Ala762Ser) c.2257G>T (p.Ala753Ser) c.2242G>T (p.Ala748Ser) c.1849G>T (p.Ala617Ser) c.2311G>T (p.Ala771Ser) c.2248G>T (p.Ala750Ser) c.2245G>T (p.Ala749Ser) c.2203G>T (p.Ala735Ser) c.1276G>T (p.Ala426Ser) | gnomAD v4 |
20 | g.63407003C= | CA2374774362 | KCNQ2 | c.2314G= (p.Ala772=) c.2260G= (p.Ala754=) c.1657G= (p.Ala553=) c.2167G= (p.Ala723=) c.1828G= (p.Ala610=) c.2176G= (p.Ala726=) c.2241+43G= (n.2241+43G=) c.2205+43G= (n.2205+43G=) c.2206G= (p.Ala736=) c.2133+43G= (n.2133+43G=) c.1680-6160G= (n.1680-6160G=) c.2302G= (p.Ala768=) c.2368G= (p.Ala790=) c.2365G= (p.Ala789=) c.2338G= (p.Ala780=) c.2284G= (p.Ala762=) c.2257G= (p.Ala753=) c.2242G= (p.Ala748=) c.1849G= (p.Ala617=) c.2311G= (p.Ala771=) c.2248G= (p.Ala750=) c.2245G= (p.Ala749=) c.2203G= (p.Ala735=) c.1276G= (p.Ala426=) | |
20 | g.63407003C>G | CA409638162 | KCNQ2 | c.2314G>C (p.Ala772Pro) c.2260G>C (p.Ala754Pro) c.1657G>C (p.Ala553Pro) c.2167G>C (p.Ala723Pro) c.1828G>C (p.Ala610Pro) c.2176G>C (p.Ala726Pro) c.2241+43G>C (n.2241+43G>C) c.2205+43G>C (n.2205+43G>C) c.2206G>C (p.Ala736Pro) c.2133+43G>C (n.2133+43G>C) c.1680-6160G>C (n.1680-6160G>C) c.2302G>C (p.Ala768Pro) c.2368G>C (p.Ala790Pro) c.2365G>C (p.Ala789Pro) c.2338G>C (p.Ala780Pro) c.2284G>C (p.Ala762Pro) c.2257G>C (p.Ala753Pro) c.2242G>C (p.Ala748Pro) c.1849G>C (p.Ala617Pro) c.2311G>C (p.Ala771Pro) c.2248G>C (p.Ala750Pro) c.2245G>C (p.Ala749Pro) c.2203G>C (p.Ala735Pro) c.1276G>C (p.Ala426Pro) | ClinVar |
20 | g.63407003C>T | CA9958113 | KCNQ2 | c.2314G>A (p.Ala772Thr) c.2260G>A (p.Ala754Thr) c.1657G>A (p.Ala553Thr) c.2167G>A (p.Ala723Thr) c.1828G>A (p.Ala610Thr) c.2176G>A (p.Ala726Thr) c.2241+43G>A (n.2241+43G>A) c.2205+43G>A (n.2205+43G>A) c.2206G>A (p.Ala736Thr) c.2133+43G>A (n.2133+43G>A) c.1680-6160G>A (n.1680-6160G>A) c.2302G>A (p.Ala768Thr) c.2368G>A (p.Ala790Thr) c.2365G>A (p.Ala789Thr) c.2338G>A (p.Ala780Thr) c.2284G>A (p.Ala762Thr) c.2257G>A (p.Ala753Thr) c.2242G>A (p.Ala748Thr) c.1849G>A (p.Ala617Thr) c.2311G>A (p.Ala771Thr) c.2248G>A (p.Ala750Thr) c.2245G>A (p.Ala749Thr) c.2203G>A (p.Ala735Thr) c.1276G>A (p.Ala426Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63407004G>A | CA9958114 | KCNQ2 | c.2313C>T (p.Ser771=) c.2259C>T (p.Ser753=) c.1656C>T (p.Ser552=) c.2166C>T (p.Ser722=) c.1827C>T (p.Ser609=) c.2175C>T (p.Ser725=) c.2241+42C>T (n.2241+42C>T) c.2205+42C>T (n.2205+42C>T) c.2205C>T (p.Ser735=) c.2133+42C>T (n.2133+42C>T) c.1680-6161C>T (n.1680-6161C>T) c.2301C>T (p.Ser767=) c.2367C>T (p.Ser789=) c.2364C>T (p.Ser788=) c.2337C>T (p.Ser779=) c.2283C>T (p.Ser761=) c.2256C>T (p.Ser752=) c.2241C>T (p.Ser747=) c.1848C>T (p.Ser616=) c.2310C>T (p.Ser770=) c.2247C>T (p.Ser749=) c.2244C>T (p.Ser748=) c.2202C>T (p.Ser734=) c.1275C>T (p.Ser425=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407004G>C | CA511339395 | KCNQ2 | c.2313C>G (p.Ser771=) c.2259C>G (p.Ser753=) c.1656C>G (p.Ser552=) c.2166C>G (p.Ser722=) c.1827C>G (p.Ser609=) c.2175C>G (p.Ser725=) c.2241+42C>G (n.2241+42C>G) c.2205+42C>G (n.2205+42C>G) c.2205C>G (p.Ser735=) c.2133+42C>G (n.2133+42C>G) c.1680-6161C>G (n.1680-6161C>G) c.2301C>G (p.Ser767=) c.2367C>G (p.Ser789=) c.2364C>G (p.Ser788=) c.2337C>G (p.Ser779=) c.2283C>G (p.Ser761=) c.2256C>G (p.Ser752=) c.2241C>G (p.Ser747=) c.1848C>G (p.Ser616=) c.2310C>G (p.Ser770=) c.2247C>G (p.Ser749=) c.2244C>G (p.Ser748=) c.2202C>G (p.Ser734=) c.1275C>G (p.Ser425=) | |
20 | g.63407004G= | CA2374774363 | KCNQ2 | c.2313C= (p.Ser771=) c.2259C= (p.Ser753=) c.1656C= (p.Ser552=) c.2166C= (p.Ser722=) c.1827C= (p.Ser609=) c.2175C= (p.Ser725=) c.2241+42C= (n.2241+42C=) c.2205+42C= (n.2205+42C=) c.2205C= (p.Ser735=) c.2133+42C= (n.2133+42C=) c.1680-6161C= (n.1680-6161C=) c.2301C= (p.Ser767=) c.2367C= (p.Ser789=) c.2364C= (p.Ser788=) c.2337C= (p.Ser779=) c.2283C= (p.Ser761=) c.2256C= (p.Ser752=) c.2241C= (p.Ser747=) c.1848C= (p.Ser616=) c.2310C= (p.Ser770=) c.2247C= (p.Ser749=) c.2244C= (p.Ser748=) c.2202C= (p.Ser734=) c.1275C= (p.Ser425=) | |
20 | g.63407004G>T | CA511339396 | KCNQ2 | c.2313C>A (p.Ser771=) c.2259C>A (p.Ser753=) c.1656C>A (p.Ser552=) c.2166C>A (p.Ser722=) c.1827C>A (p.Ser609=) c.2175C>A (p.Ser725=) c.2241+42C>A (n.2241+42C>A) c.2205+42C>A (n.2205+42C>A) c.2205C>A (p.Ser735=) c.2133+42C>A (n.2133+42C>A) c.1680-6161C>A (n.1680-6161C>A) c.2301C>A (p.Ser767=) c.2367C>A (p.Ser789=) c.2364C>A (p.Ser788=) c.2337C>A (p.Ser779=) c.2283C>A (p.Ser761=) c.2256C>A (p.Ser752=) c.2241C>A (p.Ser747=) c.1848C>A (p.Ser616=) c.2310C>A (p.Ser770=) c.2247C>A (p.Ser749=) c.2244C>A (p.Ser748=) c.2202C>A (p.Ser734=) c.1275C>A (p.Ser425=) | gnomAD v4 |
20 | g.63407005G>A | CA409638167 | KCNQ2 | c.2312C>T (p.Ser771Phe) c.2258C>T (p.Ser753Phe) c.1655C>T (p.Ser552Phe) c.2165C>T (p.Ser722Phe) c.1826C>T (p.Ser609Phe) c.2174C>T (p.Ser725Phe) c.2241+41C>T (n.2241+41C>T) c.2205+41C>T (n.2205+41C>T) c.2204C>T (p.Ser735Phe) c.2133+41C>T (n.2133+41C>T) c.1680-6162C>T (n.1680-6162C>T) c.2300C>T (p.Ser767Phe) c.2366C>T (p.Ser789Phe) c.2363C>T (p.Ser788Phe) c.2336C>T (p.Ser779Phe) c.2282C>T (p.Ser761Phe) c.2255C>T (p.Ser752Phe) c.2240C>T (p.Ser747Phe) c.1847C>T (p.Ser616Phe) c.2309C>T (p.Ser770Phe) c.2246C>T (p.Ser749Phe) c.2243C>T (p.Ser748Phe) c.2201C>T (p.Ser734Phe) c.1274C>T (p.Ser425Phe) | gnomAD v4 |
20 | g.63407005G>C | CA409638169 | KCNQ2 | c.2312C>G (p.Ser771Cys) c.2258C>G (p.Ser753Cys) c.1655C>G (p.Ser552Cys) c.2165C>G (p.Ser722Cys) c.1826C>G (p.Ser609Cys) c.2174C>G (p.Ser725Cys) c.2241+41C>G (n.2241+41C>G) c.2205+41C>G (n.2205+41C>G) c.2204C>G (p.Ser735Cys) c.2133+41C>G (n.2133+41C>G) c.1680-6162C>G (n.1680-6162C>G) c.2300C>G (p.Ser767Cys) c.2366C>G (p.Ser789Cys) c.2363C>G (p.Ser788Cys) c.2336C>G (p.Ser779Cys) c.2282C>G (p.Ser761Cys) c.2255C>G (p.Ser752Cys) c.2240C>G (p.Ser747Cys) c.1847C>G (p.Ser616Cys) c.2309C>G (p.Ser770Cys) c.2246C>G (p.Ser749Cys) c.2243C>G (p.Ser748Cys) c.2201C>G (p.Ser734Cys) c.1274C>G (p.Ser425Cys) | |
20 | g.63407005G>T | CA409638172 | KCNQ2 | c.2312C>A (p.Ser771Tyr) c.2258C>A (p.Ser753Tyr) c.1655C>A (p.Ser552Tyr) c.2165C>A (p.Ser722Tyr) c.1826C>A (p.Ser609Tyr) c.2174C>A (p.Ser725Tyr) c.2241+41C>A (n.2241+41C>A) c.2205+41C>A (n.2205+41C>A) c.2204C>A (p.Ser735Tyr) c.2133+41C>A (n.2133+41C>A) c.1680-6162C>A (n.1680-6162C>A) c.2300C>A (p.Ser767Tyr) c.2366C>A (p.Ser789Tyr) c.2363C>A (p.Ser788Tyr) c.2336C>A (p.Ser779Tyr) c.2282C>A (p.Ser761Tyr) c.2255C>A (p.Ser752Tyr) c.2240C>A (p.Ser747Tyr) c.1847C>A (p.Ser616Tyr) c.2309C>A (p.Ser770Tyr) c.2246C>A (p.Ser749Tyr) c.2243C>A (p.Ser748Tyr) c.2201C>A (p.Ser734Tyr) c.1274C>A (p.Ser425Tyr) | gnomAD v4 |
20 | g.63407006A>C | CA409638174 | KCNQ2 | c.2311T>G (p.Ser771Ala) c.2257T>G (p.Ser753Ala) c.1654T>G (p.Ser552Ala) c.2164T>G (p.Ser722Ala) c.1825T>G (p.Ser609Ala) c.2173T>G (p.Ser725Ala) c.2241+40T>G (n.2241+40T>G) c.2205+40T>G (n.2205+40T>G) c.2203T>G (p.Ser735Ala) c.2133+40T>G (n.2133+40T>G) c.1680-6163T>G (n.1680-6163T>G) c.2299T>G (p.Ser767Ala) c.2365T>G (p.Ser789Ala) c.2362T>G (p.Ser788Ala) c.2335T>G (p.Ser779Ala) c.2281T>G (p.Ser761Ala) c.2254T>G (p.Ser752Ala) c.2239T>G (p.Ser747Ala) c.1846T>G (p.Ser616Ala) c.2308T>G (p.Ser770Ala) c.2245T>G (p.Ser749Ala) c.2242T>G (p.Ser748Ala) c.2200T>G (p.Ser734Ala) c.1273T>G (p.Ser425Ala) | |
20 | g.63407006A>G | CA409638175 | KCNQ2 | c.2311T>C (p.Ser771Pro) c.2257T>C (p.Ser753Pro) c.1654T>C (p.Ser552Pro) c.2164T>C (p.Ser722Pro) c.1825T>C (p.Ser609Pro) c.2173T>C (p.Ser725Pro) c.2241+40T>C (n.2241+40T>C) c.2205+40T>C (n.2205+40T>C) c.2203T>C (p.Ser735Pro) c.2133+40T>C (n.2133+40T>C) c.1680-6163T>C (n.1680-6163T>C) c.2299T>C (p.Ser767Pro) c.2365T>C (p.Ser789Pro) c.2362T>C (p.Ser788Pro) c.2335T>C (p.Ser779Pro) c.2281T>C (p.Ser761Pro) c.2254T>C (p.Ser752Pro) c.2239T>C (p.Ser747Pro) c.1846T>C (p.Ser616Pro) c.2308T>C (p.Ser770Pro) c.2245T>C (p.Ser749Pro) c.2242T>C (p.Ser748Pro) c.2200T>C (p.Ser734Pro) c.1273T>C (p.Ser425Pro) | gnomAD v4 |
20 | g.63407006A>T | CA409638173 | KCNQ2 | c.2311T>A (p.Ser771Thr) c.2257T>A (p.Ser753Thr) c.1654T>A (p.Ser552Thr) c.2164T>A (p.Ser722Thr) c.1825T>A (p.Ser609Thr) c.2173T>A (p.Ser725Thr) c.2241+40T>A (n.2241+40T>A) c.2205+40T>A (n.2205+40T>A) c.2203T>A (p.Ser735Thr) c.2133+40T>A (n.2133+40T>A) c.1680-6163T>A (n.1680-6163T>A) c.2299T>A (p.Ser767Thr) c.2365T>A (p.Ser789Thr) c.2362T>A (p.Ser788Thr) c.2335T>A (p.Ser779Thr) c.2281T>A (p.Ser761Thr) c.2254T>A (p.Ser752Thr) c.2239T>A (p.Ser747Thr) c.1846T>A (p.Ser616Thr) c.2308T>A (p.Ser770Thr) c.2245T>A (p.Ser749Thr) c.2242T>A (p.Ser748Thr) c.2200T>A (p.Ser734Thr) c.1273T>A (p.Ser425Thr) | |
20 | g.63407007C>A | CA511339399 | KCNQ2 | c.2310G>T (p.Leu770=) c.2256G>T (p.Leu752=) c.1653G>T (p.Leu551=) c.2163G>T (p.Leu721=) c.1824G>T (p.Leu608=) c.2172G>T (p.Leu724=) c.2241+39G>T (n.2241+39G>T) c.2205+39G>T (n.2205+39G>T) c.2202G>T (p.Leu734=) c.2133+39G>T (n.2133+39G>T) c.1680-6164G>T (n.1680-6164G>T) c.2298G>T (p.Leu766=) c.2364G>T (p.Leu788=) c.2361G>T (p.Leu787=) c.2334G>T (p.Leu778=) c.2280G>T (p.Leu760=) c.2253G>T (p.Leu751=) c.2238G>T (p.Leu746=) c.1845G>T (p.Leu615=) c.2307G>T (p.Leu769=) c.2244G>T (p.Leu748=) c.2241G>T (p.Leu747=) c.2199G>T (p.Leu733=) c.1272G>T (p.Leu424=) | gnomAD v4 |
20 | g.63407007C>G | CA511339400 | KCNQ2 | c.2310G>C (p.Leu770=) c.2256G>C (p.Leu752=) c.1653G>C (p.Leu551=) c.2163G>C (p.Leu721=) c.1824G>C (p.Leu608=) c.2172G>C (p.Leu724=) c.2241+39G>C (n.2241+39G>C) c.2205+39G>C (n.2205+39G>C) c.2202G>C (p.Leu734=) c.2133+39G>C (n.2133+39G>C) c.1680-6164G>C (n.1680-6164G>C) c.2298G>C (p.Leu766=) c.2364G>C (p.Leu788=) c.2361G>C (p.Leu787=) c.2334G>C (p.Leu778=) c.2280G>C (p.Leu760=) c.2253G>C (p.Leu751=) c.2238G>C (p.Leu746=) c.1845G>C (p.Leu615=) c.2307G>C (p.Leu769=) c.2244G>C (p.Leu748=) c.2241G>C (p.Leu747=) c.2199G>C (p.Leu733=) c.1272G>C (p.Leu424=) | gnomAD v4 |
20 | g.63407007C>T | CA511339401 | KCNQ2 | c.2310G>A (p.Leu770=) c.2256G>A (p.Leu752=) c.1653G>A (p.Leu551=) c.2163G>A (p.Leu721=) c.1824G>A (p.Leu608=) c.2172G>A (p.Leu724=) c.2241+39G>A (n.2241+39G>A) c.2205+39G>A (n.2205+39G>A) c.2202G>A (p.Leu734=) c.2133+39G>A (n.2133+39G>A) c.1680-6164G>A (n.1680-6164G>A) c.2298G>A (p.Leu766=) c.2364G>A (p.Leu788=) c.2361G>A (p.Leu787=) c.2334G>A (p.Leu778=) c.2280G>A (p.Leu760=) c.2253G>A (p.Leu751=) c.2238G>A (p.Leu746=) c.1845G>A (p.Leu615=) c.2307G>A (p.Leu769=) c.2244G>A (p.Leu748=) c.2241G>A (p.Leu747=) c.2199G>A (p.Leu733=) c.1272G>A (p.Leu424=) | gnomAD v4 |
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.63407008A>C | CA409638177 | KCNQ2 | c.2309T>G (p.Leu770Arg) c.2255T>G (p.Leu752Arg) c.1652T>G (p.Leu551Arg) c.2162T>G (p.Leu721Arg) c.1823T>G (p.Leu608Arg) c.2171T>G (p.Leu724Arg) c.2241+38T>G (n.2241+38T>G) c.2205+38T>G (n.2205+38T>G) c.2201T>G (p.Leu734Arg) c.2133+38T>G (n.2133+38T>G) c.1680-6165T>G (n.1680-6165T>G) c.2297T>G (p.Leu766Arg) c.2363T>G (p.Leu788Arg) c.2360T>G (p.Leu787Arg) c.2333T>G (p.Leu778Arg) c.2279T>G (p.Leu760Arg) c.2252T>G (p.Leu751Arg) c.2237T>G (p.Leu746Arg) c.1844T>G (p.Leu615Arg) c.2306T>G (p.Leu769Arg) c.2243T>G (p.Leu748Arg) c.2240T>G (p.Leu747Arg) c.2198T>G (p.Leu733Arg) c.1271T>G (p.Leu424Arg) | |
20 | g.63407008A>G | CA409638180 | KCNQ2 | c.2309T>C (p.Leu770Pro) c.2255T>C (p.Leu752Pro) c.1652T>C (p.Leu551Pro) c.2162T>C (p.Leu721Pro) c.1823T>C (p.Leu608Pro) c.2171T>C (p.Leu724Pro) c.2241+38T>C (n.2241+38T>C) c.2205+38T>C (n.2205+38T>C) c.2201T>C (p.Leu734Pro) c.2133+38T>C (n.2133+38T>C) c.1680-6165T>C (n.1680-6165T>C) c.2297T>C (p.Leu766Pro) c.2363T>C (p.Leu788Pro) c.2360T>C (p.Leu787Pro) c.2333T>C (p.Leu778Pro) c.2279T>C (p.Leu760Pro) c.2252T>C (p.Leu751Pro) c.2237T>C (p.Leu746Pro) c.1844T>C (p.Leu615Pro) c.2306T>C (p.Leu769Pro) c.2243T>C (p.Leu748Pro) c.2240T>C (p.Leu747Pro) c.2198T>C (p.Leu733Pro) c.1271T>C (p.Leu424Pro) | dbSNP |
20 | g.63407008A>T | CA409638183 | KCNQ2 | c.2309T>A (p.Leu770Gln) c.2255T>A (p.Leu752Gln) c.1652T>A (p.Leu551Gln) c.2162T>A (p.Leu721Gln) c.1823T>A (p.Leu608Gln) c.2171T>A (p.Leu724Gln) c.2241+38T>A (n.2241+38T>A) c.2205+38T>A (n.2205+38T>A) c.2201T>A (p.Leu734Gln) c.2133+38T>A (n.2133+38T>A) c.1680-6165T>A (n.1680-6165T>A) c.2297T>A (p.Leu766Gln) c.2363T>A (p.Leu788Gln) c.2360T>A (p.Leu787Gln) c.2333T>A (p.Leu778Gln) c.2279T>A (p.Leu760Gln) c.2252T>A (p.Leu751Gln) c.2237T>A (p.Leu746Gln) c.1844T>A (p.Leu615Gln) c.2306T>A (p.Leu769Gln) c.2243T>A (p.Leu748Gln) c.2240T>A (p.Leu747Gln) c.2198T>A (p.Leu733Gln) c.1271T>A (p.Leu424Gln) | |
20 | g.63407009G>A | CA511339447 | KCNQ2 | c.2308C>T (p.Leu770=) c.2254C>T (p.Leu752=) c.1651C>T (p.Leu551=) c.2161C>T (p.Leu721=) c.1822C>T (p.Leu608=) c.2170C>T (p.Leu724=) c.2241+37C>T (n.2241+37C>T) c.2205+37C>T (n.2205+37C>T) c.2200C>T (p.Leu734=) c.2133+37C>T (n.2133+37C>T) c.1680-6166C>T (n.1680-6166C>T) c.2296C>T (p.Leu766=) c.2362C>T (p.Leu788=) c.2359C>T (p.Leu787=) c.2332C>T (p.Leu778=) c.2278C>T (p.Leu760=) c.2251C>T (p.Leu751=) c.2236C>T (p.Leu746=) c.1843C>T (p.Leu615=) c.2305C>T (p.Leu769=) c.2242C>T (p.Leu748=) c.2239C>T (p.Leu747=) c.2197C>T (p.Leu733=) c.1270C>T (p.Leu424=) | gnomAD v4 |
20 | g.63407009G>C | CA409638190 | KCNQ2 | c.2308C>G (p.Leu770Val) c.2254C>G (p.Leu752Val) c.1651C>G (p.Leu551Val) c.2161C>G (p.Leu721Val) c.1822C>G (p.Leu608Val) c.2170C>G (p.Leu724Val) c.2241+37C>G (n.2241+37C>G) c.2205+37C>G (n.2205+37C>G) c.2200C>G (p.Leu734Val) c.2133+37C>G (n.2133+37C>G) c.1680-6166C>G (n.1680-6166C>G) c.2296C>G (p.Leu766Val) c.2362C>G (p.Leu788Val) c.2359C>G (p.Leu787Val) c.2332C>G (p.Leu778Val) c.2278C>G (p.Leu760Val) c.2251C>G (p.Leu751Val) c.2236C>G (p.Leu746Val) c.1843C>G (p.Leu615Val) c.2305C>G (p.Leu769Val) c.2242C>G (p.Leu748Val) c.2239C>G (p.Leu747Val) c.2197C>G (p.Leu733Val) c.1270C>G (p.Leu424Val) | |
20 | g.63407009G>T | CA409638193 | KCNQ2 | c.2308C>A (p.Leu770Met) c.2254C>A (p.Leu752Met) c.1651C>A (p.Leu551Met) c.2161C>A (p.Leu721Met) c.1822C>A (p.Leu608Met) c.2170C>A (p.Leu724Met) c.2241+37C>A (n.2241+37C>A) c.2205+37C>A (n.2205+37C>A) c.2200C>A (p.Leu734Met) c.2133+37C>A (n.2133+37C>A) c.1680-6166C>A (n.1680-6166C>A) c.2296C>A (p.Leu766Met) c.2362C>A (p.Leu788Met) c.2359C>A (p.Leu787Met) c.2332C>A (p.Leu778Met) c.2278C>A (p.Leu760Met) c.2251C>A (p.Leu751Met) c.2236C>A (p.Leu746Met) c.1843C>A (p.Leu615Met) c.2305C>A (p.Leu769Met) c.2242C>A (p.Leu748Met) c.2239C>A (p.Leu747Met) c.2197C>A (p.Leu733Met) c.1270C>A (p.Leu424Met) | gnomAD v4 |
20 | g.63407010C>A | CA511339449 | KCNQ2 | c.2307G>T (p.Ser769=) c.2253G>T (p.Ser751=) c.1650G>T (p.Ser550=) c.2160G>T (p.Ser720=) c.1821G>T (p.Ser607=) c.2169G>T (p.Ser723=) c.2241+36G>T (n.2241+36G>T) c.2205+36G>T (n.2205+36G>T) c.2199G>T (p.Ser733=) c.2133+36G>T (n.2133+36G>T) c.1680-6167G>T (n.1680-6167G>T) c.2295G>T (p.Ser765=) c.2361G>T (p.Ser787=) c.2358G>T (p.Ser786=) c.2331G>T (p.Ser777=) c.2277G>T (p.Ser759=) c.2250G>T (p.Ser750=) c.2235G>T (p.Ser745=) c.1842G>T (p.Ser614=) c.2304G>T (p.Ser768=) c.2241G>T (p.Ser747=) c.2238G>T (p.Ser746=) c.2196G>T (p.Ser732=) c.1269G>T (p.Ser423=) | gnomAD v4 |
20 | g.63407010C= | CA2374774364 | KCNQ2 | c.2307G= (p.Ser769=) c.2253G= (p.Ser751=) c.1650G= (p.Ser550=) c.2160G= (p.Ser720=) c.1821G= (p.Ser607=) c.2169G= (p.Ser723=) c.2241+36G= (n.2241+36G=) c.2205+36G= (n.2205+36G=) c.2199G= (p.Ser733=) c.2133+36G= (n.2133+36G=) c.1680-6167G= (n.1680-6167G=) c.2295G= (p.Ser765=) c.2361G= (p.Ser787=) c.2358G= (p.Ser786=) c.2331G= (p.Ser777=) c.2277G= (p.Ser759=) c.2250G= (p.Ser750=) c.2235G= (p.Ser745=) c.1842G= (p.Ser614=) c.2304G= (p.Ser768=) c.2241G= (p.Ser747=) c.2238G= (p.Ser746=) c.2196G= (p.Ser732=) c.1269G= (p.Ser423=) | |
20 | g.63407010C>G | CA511339448 | KCNQ2 | c.2307G>C (p.Ser769=) c.2253G>C (p.Ser751=) c.1650G>C (p.Ser550=) c.2160G>C (p.Ser720=) c.1821G>C (p.Ser607=) c.2169G>C (p.Ser723=) c.2241+36G>C (n.2241+36G>C) c.2205+36G>C (n.2205+36G>C) c.2199G>C (p.Ser733=) c.2133+36G>C (n.2133+36G>C) c.1680-6167G>C (n.1680-6167G>C) c.2295G>C (p.Ser765=) c.2361G>C (p.Ser787=) c.2358G>C (p.Ser786=) c.2331G>C (p.Ser777=) c.2277G>C (p.Ser759=) c.2250G>C (p.Ser750=) c.2235G>C (p.Ser745=) c.1842G>C (p.Ser614=) c.2304G>C (p.Ser768=) c.2241G>C (p.Ser747=) c.2238G>C (p.Ser746=) c.2196G>C (p.Ser732=) c.1269G>C (p.Ser423=) | |
20 | g.63407010C>T | CA9958115 | KCNQ2 | c.2307G>A (p.Ser769=) c.2253G>A (p.Ser751=) c.1650G>A (p.Ser550=) c.2160G>A (p.Ser720=) c.1821G>A (p.Ser607=) c.2169G>A (p.Ser723=) c.2241+36G>A (n.2241+36G>A) c.2205+36G>A (n.2205+36G>A) c.2199G>A (p.Ser733=) c.2133+36G>A (n.2133+36G>A) c.1680-6167G>A (n.1680-6167G>A) c.2295G>A (p.Ser765=) c.2361G>A (p.Ser787=) c.2358G>A (p.Ser786=) c.2331G>A (p.Ser777=) c.2277G>A (p.Ser759=) c.2250G>A (p.Ser750=) c.2235G>A (p.Ser745=) c.1842G>A (p.Ser614=) c.2304G>A (p.Ser768=) c.2241G>A (p.Ser747=) c.2238G>A (p.Ser746=) c.2196G>A (p.Ser732=) c.1269G>A (p.Ser423=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407011G>A | CA9958116 | KCNQ2 | c.2306C>T (p.Ser769Leu) c.2252C>T (p.Ser751Leu) c.1649C>T (p.Ser550Leu) c.2159C>T (p.Ser720Leu) c.1820C>T (p.Ser607Leu) c.2168C>T (p.Ser723Leu) c.2241+35C>T (n.2241+35C>T) c.2205+35C>T (n.2205+35C>T) c.2198C>T (p.Ser733Leu) c.2133+35C>T (n.2133+35C>T) c.1680-6168C>T (n.1680-6168C>T) c.2294C>T (p.Ser765Leu) c.2360C>T (p.Ser787Leu) c.2357C>T (p.Ser786Leu) c.2330C>T (p.Ser777Leu) c.2276C>T (p.Ser759Leu) c.2249C>T (p.Ser750Leu) c.2234C>T (p.Ser745Leu) c.1841C>T (p.Ser614Leu) c.2303C>T (p.Ser768Leu) c.2240C>T (p.Ser747Leu) c.2237C>T (p.Ser746Leu) c.2195C>T (p.Ser732Leu) c.1268C>T (p.Ser423Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63407011G>C | CA409638204 | KCNQ2 | c.2306C>G (p.Ser769Trp) c.2252C>G (p.Ser751Trp) c.1649C>G (p.Ser550Trp) c.2159C>G (p.Ser720Trp) c.1820C>G (p.Ser607Trp) c.2168C>G (p.Ser723Trp) c.2241+35C>G (n.2241+35C>G) c.2205+35C>G (n.2205+35C>G) c.2198C>G (p.Ser733Trp) c.2133+35C>G (n.2133+35C>G) c.1680-6168C>G (n.1680-6168C>G) c.2294C>G (p.Ser765Trp) c.2360C>G (p.Ser787Trp) c.2357C>G (p.Ser786Trp) c.2330C>G (p.Ser777Trp) c.2276C>G (p.Ser759Trp) c.2249C>G (p.Ser750Trp) c.2234C>G (p.Ser745Trp) c.1841C>G (p.Ser614Trp) c.2303C>G (p.Ser768Trp) c.2240C>G (p.Ser747Trp) c.2237C>G (p.Ser746Trp) c.2195C>G (p.Ser732Trp) c.1268C>G (p.Ser423Trp) | |
20 | g.63407011G= | CA2374774365 | KCNQ2 | c.2306C= (p.Ser769=) c.2252C= (p.Ser751=) c.1649C= (p.Ser550=) c.2159C= (p.Ser720=) c.1820C= (p.Ser607=) c.2168C= (p.Ser723=) c.2241+35C= (n.2241+35C=) c.2205+35C= (n.2205+35C=) c.2198C= (p.Ser733=) c.2133+35C= (n.2133+35C=) c.1680-6168C= (n.1680-6168C=) c.2294C= (p.Ser765=) c.2360C= (p.Ser787=) c.2357C= (p.Ser786=) c.2330C= (p.Ser777=) c.2276C= (p.Ser759=) c.2249C= (p.Ser750=) c.2234C= (p.Ser745=) c.1841C= (p.Ser614=) c.2303C= (p.Ser768=) c.2240C= (p.Ser747=) c.2237C= (p.Ser746=) c.2195C= (p.Ser732=) c.1268C= (p.Ser423=) | |
20 | g.63407011G>T | CA409638206 | KCNQ2 | c.2306C>A (p.Ser769Ter) c.2252C>A (p.Ser751Ter) c.1649C>A (p.Ser550Ter) c.2159C>A (p.Ser720Ter) c.1820C>A (p.Ser607Ter) c.2168C>A (p.Ser723Ter) c.2241+35C>A (n.2241+35C>A) c.2205+35C>A (n.2205+35C>A) c.2198C>A (p.Ser733Ter) c.2133+35C>A (n.2133+35C>A) c.1680-6168C>A (n.1680-6168C>A) c.2294C>A (p.Ser765Ter) c.2360C>A (p.Ser787Ter) c.2357C>A (p.Ser786Ter) c.2330C>A (p.Ser777Ter) c.2276C>A (p.Ser759Ter) c.2249C>A (p.Ser750Ter) c.2234C>A (p.Ser745Ter) c.1841C>A (p.Ser614Ter) c.2303C>A (p.Ser768Ter) c.2240C>A (p.Ser747Ter) c.2237C>A (p.Ser746Ter) c.2195C>A (p.Ser732Ter) c.1268C>A (p.Ser423Ter) | gnomAD v4 |
20 | g.63407012A>C | CA409638208 | KCNQ2 | c.2305T>G (p.Ser769Ala) c.2251T>G (p.Ser751Ala) c.1648T>G (p.Ser550Ala) c.2158T>G (p.Ser720Ala) c.1819T>G (p.Ser607Ala) c.2167T>G (p.Ser723Ala) c.2241+34T>G (n.2241+34T>G) c.2205+34T>G (n.2205+34T>G) c.2197T>G (p.Ser733Ala) c.2133+34T>G (n.2133+34T>G) c.1680-6169T>G (n.1680-6169T>G) c.2293T>G (p.Ser765Ala) c.2359T>G (p.Ser787Ala) c.2356T>G (p.Ser786Ala) c.2329T>G (p.Ser777Ala) c.2275T>G (p.Ser759Ala) c.2248T>G (p.Ser750Ala) c.2233T>G (p.Ser745Ala) c.1840T>G (p.Ser614Ala) c.2302T>G (p.Ser768Ala) c.2239T>G (p.Ser747Ala) c.2236T>G (p.Ser746Ala) c.2194T>G (p.Ser732Ala) c.1267T>G (p.Ser423Ala) | gnomAD v4 |
20 | g.63407012A>G | CA409638210 | KCNQ2 | c.2305T>C (p.Ser769Pro) c.2251T>C (p.Ser751Pro) c.1648T>C (p.Ser550Pro) c.2158T>C (p.Ser720Pro) c.1819T>C (p.Ser607Pro) c.2167T>C (p.Ser723Pro) c.2241+34T>C (n.2241+34T>C) c.2205+34T>C (n.2205+34T>C) c.2197T>C (p.Ser733Pro) c.2133+34T>C (n.2133+34T>C) c.1680-6169T>C (n.1680-6169T>C) c.2293T>C (p.Ser765Pro) c.2359T>C (p.Ser787Pro) c.2356T>C (p.Ser786Pro) c.2329T>C (p.Ser777Pro) c.2275T>C (p.Ser759Pro) c.2248T>C (p.Ser750Pro) c.2233T>C (p.Ser745Pro) c.1840T>C (p.Ser614Pro) c.2302T>C (p.Ser768Pro) c.2239T>C (p.Ser747Pro) c.2236T>C (p.Ser746Pro) c.2194T>C (p.Ser732Pro) c.1267T>C (p.Ser423Pro) | gnomAD v4 |
20 | g.63407012A>T | CA409638213 | KCNQ2 | c.2305T>A (p.Ser769Thr) c.2251T>A (p.Ser751Thr) c.1648T>A (p.Ser550Thr) c.2158T>A (p.Ser720Thr) c.1819T>A (p.Ser607Thr) c.2167T>A (p.Ser723Thr) c.2241+34T>A (n.2241+34T>A) c.2205+34T>A (n.2205+34T>A) c.2197T>A (p.Ser733Thr) c.2133+34T>A (n.2133+34T>A) c.1680-6169T>A (n.1680-6169T>A) c.2293T>A (p.Ser765Thr) c.2359T>A (p.Ser787Thr) c.2356T>A (p.Ser786Thr) c.2329T>A (p.Ser777Thr) c.2275T>A (p.Ser759Thr) c.2248T>A (p.Ser750Thr) c.2233T>A (p.Ser745Thr) c.1840T>A (p.Ser614Thr) c.2302T>A (p.Ser768Thr) c.2239T>A (p.Ser747Thr) c.2236T>A (p.Ser746Thr) c.2194T>A (p.Ser732Thr) c.1267T>A (p.Ser423Thr) | |
20 | g.63407013C>A | CA511339450 | KCNQ2 | c.2304G>T (p.Arg768=) c.2250G>T (p.Arg750=) c.1647G>T (p.Arg549=) c.2157G>T (p.Arg719=) c.1818G>T (p.Arg606=) c.2166G>T (p.Arg722=) c.2241+33G>T (n.2241+33G>T) c.2205+33G>T (n.2205+33G>T) c.2196G>T (p.Arg732=) c.2133+33G>T (n.2133+33G>T) c.1680-6170G>T (n.1680-6170G>T) c.2292G>T (p.Arg764=) c.2358G>T (p.Arg786=) c.2355G>T (p.Arg785=) c.2328G>T (p.Arg776=) c.2274G>T (p.Arg758=) c.2247G>T (p.Arg749=) c.2232G>T (p.Arg744=) c.1839G>T (p.Arg613=) c.2301G>T (p.Arg767=) c.2238G>T (p.Arg746=) c.2235G>T (p.Arg745=) c.2193G>T (p.Arg731=) c.1266G>T (p.Arg422=) | gnomAD v4 |
20 | g.63407013C= | CA2374774366 | KCNQ2 | c.2304G= (p.Arg768=) c.2250G= (p.Arg750=) c.1647G= (p.Arg549=) c.2157G= (p.Arg719=) c.1818G= (p.Arg606=) c.2166G= (p.Arg722=) c.2241+33G= (n.2241+33G=) c.2205+33G= (n.2205+33G=) c.2196G= (p.Arg732=) c.2133+33G= (n.2133+33G=) c.1680-6170G= (n.1680-6170G=) c.2292G= (p.Arg764=) c.2358G= (p.Arg786=) c.2355G= (p.Arg785=) c.2328G= (p.Arg776=) c.2274G= (p.Arg758=) c.2247G= (p.Arg749=) c.2232G= (p.Arg744=) c.1839G= (p.Arg613=) c.2301G= (p.Arg767=) c.2238G= (p.Arg746=) c.2235G= (p.Arg745=) c.2193G= (p.Arg731=) c.1266G= (p.Arg422=) | |
20 | g.63407013C>G | CA511339451 | KCNQ2 | c.2304G>C (p.Arg768=) c.2250G>C (p.Arg750=) c.1647G>C (p.Arg549=) c.2157G>C (p.Arg719=) c.1818G>C (p.Arg606=) c.2166G>C (p.Arg722=) c.2241+33G>C (n.2241+33G>C) c.2205+33G>C (n.2205+33G>C) c.2196G>C (p.Arg732=) c.2133+33G>C (n.2133+33G>C) c.1680-6170G>C (n.1680-6170G>C) c.2292G>C (p.Arg764=) c.2358G>C (p.Arg786=) c.2355G>C (p.Arg785=) c.2328G>C (p.Arg776=) c.2274G>C (p.Arg758=) c.2247G>C (p.Arg749=) c.2232G>C (p.Arg744=) c.1839G>C (p.Arg613=) c.2301G>C (p.Arg767=) c.2238G>C (p.Arg746=) c.2235G>C (p.Arg745=) c.2193G>C (p.Arg731=) c.1266G>C (p.Arg422=) | |
20 | g.63407013C>T | CA511339452 | KCNQ2 | c.2304G>A (p.Arg768=) c.2250G>A (p.Arg750=) c.1647G>A (p.Arg549=) c.2157G>A (p.Arg719=) c.1818G>A (p.Arg606=) c.2166G>A (p.Arg722=) c.2241+33G>A (n.2241+33G>A) c.2205+33G>A (n.2205+33G>A) c.2196G>A (p.Arg732=) c.2133+33G>A (n.2133+33G>A) c.1680-6170G>A (n.1680-6170G>A) c.2292G>A (p.Arg764=) c.2358G>A (p.Arg786=) c.2355G>A (p.Arg785=) c.2328G>A (p.Arg776=) c.2274G>A (p.Arg758=) c.2247G>A (p.Arg749=) c.2232G>A (p.Arg744=) c.1839G>A (p.Arg613=) c.2301G>A (p.Arg767=) c.2238G>A (p.Arg746=) c.2235G>A (p.Arg745=) c.2193G>A (p.Arg731=) c.1266G>A (p.Arg422=) | dbSNP gnomAD v4 |
20 | g.63407014C>A | CA409638219 | KCNQ2 | c.2303G>T (p.Arg768Leu) c.2249G>T (p.Arg750Leu) c.1646G>T (p.Arg549Leu) c.2156G>T (p.Arg719Leu) c.1817G>T (p.Arg606Leu) c.2165G>T (p.Arg722Leu) c.2241+32G>T (n.2241+32G>T) c.2205+32G>T (n.2205+32G>T) c.2195G>T (p.Arg732Leu) c.2133+32G>T (n.2133+32G>T) c.1680-6171G>T (n.1680-6171G>T) c.2291G>T (p.Arg764Leu) c.2357G>T (p.Arg786Leu) c.2354G>T (p.Arg785Leu) c.2327G>T (p.Arg776Leu) c.2273G>T (p.Arg758Leu) c.2246G>T (p.Arg749Leu) c.2231G>T (p.Arg744Leu) c.1838G>T (p.Arg613Leu) c.2300G>T (p.Arg767Leu) c.2237G>T (p.Arg746Leu) c.2234G>T (p.Arg745Leu) c.2192G>T (p.Arg731Leu) c.1265G>T (p.Arg422Leu) | gnomAD v4 |
20 | g.63407014C= | CA2374774367 | KCNQ2 | c.2303G= (p.Arg768=) c.2249G= (p.Arg750=) c.1646G= (p.Arg549=) c.2156G= (p.Arg719=) c.1817G= (p.Arg606=) c.2165G= (p.Arg722=) c.2241+32G= (n.2241+32G=) c.2205+32G= (n.2205+32G=) c.2195G= (p.Arg732=) c.2133+32G= (n.2133+32G=) c.1680-6171G= (n.1680-6171G=) c.2291G= (p.Arg764=) c.2357G= (p.Arg786=) c.2354G= (p.Arg785=) c.2327G= (p.Arg776=) c.2273G= (p.Arg758=) c.2246G= (p.Arg749=) c.2231G= (p.Arg744=) c.1838G= (p.Arg613=) c.2300G= (p.Arg767=) c.2237G= (p.Arg746=) c.2234G= (p.Arg745=) c.2192G= (p.Arg731=) c.1265G= (p.Arg422=) | |
20 | g.63407014C>G | CA409638221 | KCNQ2 | c.2303G>C (p.Arg768Pro) c.2249G>C (p.Arg750Pro) c.1646G>C (p.Arg549Pro) c.2156G>C (p.Arg719Pro) c.1817G>C (p.Arg606Pro) c.2165G>C (p.Arg722Pro) c.2241+32G>C (n.2241+32G>C) c.2205+32G>C (n.2205+32G>C) c.2195G>C (p.Arg732Pro) c.2133+32G>C (n.2133+32G>C) c.1680-6171G>C (n.1680-6171G>C) c.2291G>C (p.Arg764Pro) c.2357G>C (p.Arg786Pro) c.2354G>C (p.Arg785Pro) c.2327G>C (p.Arg776Pro) c.2273G>C (p.Arg758Pro) c.2246G>C (p.Arg749Pro) c.2231G>C (p.Arg744Pro) c.1838G>C (p.Arg613Pro) c.2300G>C (p.Arg767Pro) c.2237G>C (p.Arg746Pro) c.2234G>C (p.Arg745Pro) c.2192G>C (p.Arg731Pro) c.1265G>C (p.Arg422Pro) | |
20 | g.63407014C>T | CA409638217 | KCNQ2 | c.2303G>A (p.Arg768Gln) c.2249G>A (p.Arg750Gln) c.1646G>A (p.Arg549Gln) c.2156G>A (p.Arg719Gln) c.1817G>A (p.Arg606Gln) c.2165G>A (p.Arg722Gln) c.2241+32G>A (n.2241+32G>A) c.2205+32G>A (n.2205+32G>A) c.2195G>A (p.Arg732Gln) c.2133+32G>A (n.2133+32G>A) c.1680-6171G>A (n.1680-6171G>A) c.2291G>A (p.Arg764Gln) c.2357G>A (p.Arg786Gln) c.2354G>A (p.Arg785Gln) c.2327G>A (p.Arg776Gln) c.2273G>A (p.Arg758Gln) c.2246G>A (p.Arg749Gln) c.2231G>A (p.Arg744Gln) c.1838G>A (p.Arg613Gln) c.2300G>A (p.Arg767Gln) c.2237G>A (p.Arg746Gln) c.2234G>A (p.Arg745Gln) c.2192G>A (p.Arg731Gln) c.1265G>A (p.Arg422Gln) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63407015G>A | CA409638228 | KCNQ2 | c.2302C>T (p.Arg768Trp) c.2248C>T (p.Arg750Trp) c.1645C>T (p.Arg549Trp) c.2155C>T (p.Arg719Trp) c.1816C>T (p.Arg606Trp) c.2164C>T (p.Arg722Trp) c.2241+31C>T (n.2241+31C>T) c.2205+31C>T (n.2205+31C>T) c.2194C>T (p.Arg732Trp) c.2133+31C>T (n.2133+31C>T) c.1680-6172C>T (n.1680-6172C>T) c.2290C>T (p.Arg764Trp) c.2356C>T (p.Arg786Trp) c.2353C>T (p.Arg785Trp) c.2326C>T (p.Arg776Trp) c.2272C>T (p.Arg758Trp) c.2245C>T (p.Arg749Trp) c.2230C>T (p.Arg744Trp) c.1837C>T (p.Arg613Trp) c.2299C>T (p.Arg767Trp) c.2236C>T (p.Arg746Trp) c.2233C>T (p.Arg745Trp) c.2191C>T (p.Arg731Trp) c.1264C>T (p.Arg422Trp) | ClinVar dbSNP gnomAD v4 |
20 | g.63407015G>C | CA409638232 | KCNQ2 | c.2302C>G (p.Arg768Gly) c.2248C>G (p.Arg750Gly) c.1645C>G (p.Arg549Gly) c.2155C>G (p.Arg719Gly) c.1816C>G (p.Arg606Gly) c.2164C>G (p.Arg722Gly) c.2241+31C>G (n.2241+31C>G) c.2205+31C>G (n.2205+31C>G) c.2194C>G (p.Arg732Gly) c.2133+31C>G (n.2133+31C>G) c.1680-6172C>G (n.1680-6172C>G) c.2290C>G (p.Arg764Gly) c.2356C>G (p.Arg786Gly) c.2353C>G (p.Arg785Gly) c.2326C>G (p.Arg776Gly) c.2272C>G (p.Arg758Gly) c.2245C>G (p.Arg749Gly) c.2230C>G (p.Arg744Gly) c.1837C>G (p.Arg613Gly) c.2299C>G (p.Arg767Gly) c.2236C>G (p.Arg746Gly) c.2233C>G (p.Arg745Gly) c.2191C>G (p.Arg731Gly) c.1264C>G (p.Arg422Gly) | dbSNP |
20 | g.63407015G= | CA2374774368 | KCNQ2 | c.2302C= (p.Arg768=) c.2248C= (p.Arg750=) c.1645C= (p.Arg549=) c.2155C= (p.Arg719=) c.1816C= (p.Arg606=) c.2164C= (p.Arg722=) c.2241+31C= (n.2241+31C=) c.2205+31C= (n.2205+31C=) c.2194C= (p.Arg732=) c.2133+31C= (n.2133+31C=) c.1680-6172C= (n.1680-6172C=) c.2290C= (p.Arg764=) c.2356C= (p.Arg786=) c.2353C= (p.Arg785=) c.2326C= (p.Arg776=) c.2272C= (p.Arg758=) c.2245C= (p.Arg749=) c.2230C= (p.Arg744=) c.1837C= (p.Arg613=) c.2299C= (p.Arg767=) c.2236C= (p.Arg746=) c.2233C= (p.Arg745=) c.2191C= (p.Arg731=) c.1264C= (p.Arg422=) | |
20 | g.63407015G>T | CA9958117 | KCNQ2 | c.2302C>A (p.Arg768=) c.2248C>A (p.Arg750=) c.1645C>A (p.Arg549=) c.2155C>A (p.Arg719=) c.1816C>A (p.Arg606=) c.2164C>A (p.Arg722=) c.2241+31C>A (n.2241+31C>A) c.2205+31C>A (n.2205+31C>A) c.2194C>A (p.Arg732=) c.2133+31C>A (n.2133+31C>A) c.1680-6172C>A (n.1680-6172C>A) c.2290C>A (p.Arg764=) c.2356C>A (p.Arg786=) c.2353C>A (p.Arg785=) c.2326C>A (p.Arg776=) c.2272C>A (p.Arg758=) c.2245C>A (p.Arg749=) c.2230C>A (p.Arg744=) c.1837C>A (p.Arg613=) c.2299C>A (p.Arg767=) c.2236C>A (p.Arg746=) c.2233C>A (p.Arg745=) c.2191C>A (p.Arg731=) c.1264C>A (p.Arg422=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63407016C>A | CA409638237 | KCNQ2 | c.2301G>T (p.Glu767Asp) c.2247G>T (p.Glu749Asp) c.1644G>T (p.Glu548Asp) c.2154G>T (p.Glu718Asp) c.1815G>T (p.Glu605Asp) c.2163G>T (p.Glu721Asp) c.2241+30G>T (n.2241+30G>T) c.2205+30G>T (n.2205+30G>T) c.2193G>T (p.Glu731Asp) c.2133+30G>T (n.2133+30G>T) c.1680-6173G>T (n.1680-6173G>T) c.2289G>T (p.Glu763Asp) c.2355G>T (p.Glu785Asp) c.2352G>T (p.Glu784Asp) c.2325G>T (p.Glu775Asp) c.2271G>T (p.Glu757Asp) c.2244G>T (p.Glu748Asp) c.2229G>T (p.Glu743Asp) c.1836G>T (p.Glu612Asp) c.2298G>T (p.Glu766Asp) c.2235G>T (p.Glu745Asp) c.2232G>T (p.Glu744Asp) c.2190G>T (p.Glu730Asp) c.1263G>T (p.Glu421Asp) | gnomAD v4 |
20 | g.63407016C>G | CA409638239 | KCNQ2 | c.2301G>C (p.Glu767Asp) c.2247G>C (p.Glu749Asp) c.1644G>C (p.Glu548Asp) c.2154G>C (p.Glu718Asp) c.1815G>C (p.Glu605Asp) c.2163G>C (p.Glu721Asp) c.2241+30G>C (n.2241+30G>C) c.2205+30G>C (n.2205+30G>C) c.2193G>C (p.Glu731Asp) c.2133+30G>C (n.2133+30G>C) c.1680-6173G>C (n.1680-6173G>C) c.2289G>C (p.Glu763Asp) c.2355G>C (p.Glu785Asp) c.2352G>C (p.Glu784Asp) c.2325G>C (p.Glu775Asp) c.2271G>C (p.Glu757Asp) c.2244G>C (p.Glu748Asp) c.2229G>C (p.Glu743Asp) c.1836G>C (p.Glu612Asp) c.2298G>C (p.Glu766Asp) c.2235G>C (p.Glu745Asp) c.2232G>C (p.Glu744Asp) c.2190G>C (p.Glu730Asp) c.1263G>C (p.Glu421Asp) | |
20 | g.63407016C>T | CA511339453 | KCNQ2 | c.2301G>A (p.Glu767=) c.2247G>A (p.Glu749=) c.1644G>A (p.Glu548=) c.2154G>A (p.Glu718=) c.1815G>A (p.Glu605=) c.2163G>A (p.Glu721=) c.2241+30G>A (n.2241+30G>A) c.2205+30G>A (n.2205+30G>A) c.2193G>A (p.Glu731=) c.2133+30G>A (n.2133+30G>A) c.1680-6173G>A (n.1680-6173G>A) c.2289G>A (p.Glu763=) c.2355G>A (p.Glu785=) c.2352G>A (p.Glu784=) c.2325G>A (p.Glu775=) c.2271G>A (p.Glu757=) c.2244G>A (p.Glu748=) c.2229G>A (p.Glu743=) c.1836G>A (p.Glu612=) c.2298G>A (p.Glu766=) c.2235G>A (p.Glu745=) c.2232G>A (p.Glu744=) c.2190G>A (p.Glu730=) c.1263G>A (p.Glu421=) | ClinVar 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_63407027del | CA2839291612 | KCNQ2 | c.2290_2292del (p.Pro764del) c.2236_2238del (p.Pro746del) c.1633_1635del (p.Pro545del) c.2143_2145del (p.Pro715del) c.1804_1806del (p.Pro602del) c.2152_2154del (p.Pro718del) c.2241+19_2241+21del (n.2241+19_2241+21del) c.2205+19_2205+21del (n.2205+19_2205+21del) c.2182_2184del (p.Pro728del) c.2133+19_2133+21del (n.2133+19_2133+21del) c.1680-6184_1680-6182del (n.1680-6184_1680-6182del) c.2278_2280del (p.Pro760del) c.2344_2346del (p.Pro782del) c.2341_2343del (p.Pro781del) c.2314_2316del (p.Pro772del) c.2260_2262del (p.Pro754del) c.2233_2235del (p.Pro745del) c.2218_2220del (p.Pro740del) c.1825_1827del (p.Pro609del) c.2287_2289del (p.Pro763del) c.2224_2226del (p.Pro742del) c.2221_2223del (p.Pro741del) c.2179_2181del (p.Pro727del) c.1252_1254del (p.Pro418del) | |
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 |