Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.63406889_63407267delCA2739277253KCNQ2c.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
20g.63406937dupCA2580098408KCNQ2c.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
20g.63406936_63406937dupCA2573130266KCNQ2c.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
20g.63406937delCA645608743KCNQ2c.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
20g.63406933G>ACA9958097KCNQ2c.2384C>T (p.Pro795Leu)
c.2330C>T (p.Pro777Leu)
c.1727C>T (p.Pro576Leu)
c.2237C>T (p.Pro746Leu)
c.1898C>T (p.Pro633Leu)
c.2246C>T (p.Pro749Leu)
c.2241+113C>T (n.2241+113C>T)
c.2205+113C>T (n.2205+113C>T)
c.2276C>T (p.Pro759Leu)
c.2133+113C>T (n.2133+113C>T)
c.1680-6090C>T (n.1680-6090C>T)
c.2372C>T (p.Pro791Leu)
c.2438C>T (p.Pro813Leu)
c.2435C>T (p.Pro812Leu)
c.2408C>T (p.Pro803Leu)
c.2354C>T (p.Pro785Leu)
c.2327C>T (p.Pro776Leu)
c.2312C>T (p.Pro771Leu)
c.1919C>T (p.Pro640Leu)
c.2381C>T (p.Pro794Leu)
c.2318C>T (p.Pro773Leu)
c.2315C>T (p.Pro772Leu)
c.2273C>T (p.Pro758Leu)
c.1346C>T (p.Pro449Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406933G>CCA315321KCNQ2c.2384C>G (p.Pro795Arg)
c.2330C>G (p.Pro777Arg)
c.1727C>G (p.Pro576Arg)
c.2237C>G (p.Pro746Arg)
c.1898C>G (p.Pro633Arg)
c.2246C>G (p.Pro749Arg)
c.2241+113C>G (n.2241+113C>G)
c.2205+113C>G (n.2205+113C>G)
c.2276C>G (p.Pro759Arg)
c.2133+113C>G (n.2133+113C>G)
c.1680-6090C>G (n.1680-6090C>G)
c.2372C>G (p.Pro791Arg)
c.2438C>G (p.Pro813Arg)
c.2435C>G (p.Pro812Arg)
c.2408C>G (p.Pro803Arg)
c.2354C>G (p.Pro785Arg)
c.2327C>G (p.Pro776Arg)
c.2312C>G (p.Pro771Arg)
c.1919C>G (p.Pro640Arg)
c.2381C>G (p.Pro794Arg)
c.2318C>G (p.Pro773Arg)
c.2315C>G (p.Pro772Arg)
c.2273C>G (p.Pro758Arg)
c.1346C>G (p.Pro449Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406933G=CA2374774315KCNQ2c.2384C= (p.Pro795=)
c.2330C= (p.Pro777=)
c.1727C= (p.Pro576=)
c.2237C= (p.Pro746=)
c.1898C= (p.Pro633=)
c.2246C= (p.Pro749=)
c.2241+113C= (n.2241+113C=)
c.2205+113C= (n.2205+113C=)
c.2276C= (p.Pro759=)
c.2133+113C= (n.2133+113C=)
c.1680-6090C= (n.1680-6090C=)
c.2372C= (p.Pro791=)
c.2438C= (p.Pro813=)
c.2435C= (p.Pro812=)
c.2408C= (p.Pro803=)
c.2354C= (p.Pro785=)
c.2327C= (p.Pro776=)
c.2312C= (p.Pro771=)
c.1919C= (p.Pro640=)
c.2381C= (p.Pro794=)
c.2318C= (p.Pro773=)
c.2315C= (p.Pro772=)
c.2273C= (p.Pro758=)
c.1346C= (p.Pro449=)
20g.63406933G>TCA409637726KCNQ2c.2384C>A (p.Pro795His)
c.2330C>A (p.Pro777His)
c.1727C>A (p.Pro576His)
c.2237C>A (p.Pro746His)
c.1898C>A (p.Pro633His)
c.2246C>A (p.Pro749His)
c.2241+113C>A (n.2241+113C>A)
c.2205+113C>A (n.2205+113C>A)
c.2276C>A (p.Pro759His)
c.2133+113C>A (n.2133+113C>A)
c.1680-6090C>A (n.1680-6090C>A)
c.2372C>A (p.Pro791His)
c.2438C>A (p.Pro813His)
c.2435C>A (p.Pro812His)
c.2408C>A (p.Pro803His)
c.2354C>A (p.Pro785His)
c.2327C>A (p.Pro776His)
c.2312C>A (p.Pro771His)
c.1919C>A (p.Pro640His)
c.2381C>A (p.Pro794His)
c.2318C>A (p.Pro773His)
c.2315C>A (p.Pro772His)
c.2273C>A (p.Pro758His)
c.1346C>A (p.Pro449His)
 gnomAD v4
20g.63406934G>ACA315318KCNQ2c.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
20g.63406934G>CCA409637731KCNQ2c.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)
20g.63406934G=CA2374774316KCNQ2c.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=)
20g.63406934G>TCA409637734KCNQ2c.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)
20g.63406935G>ACA511339300KCNQ2c.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
20g.63406935G>CCA511339301KCNQ2c.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=)
20g.63406935G=CA2374774317KCNQ2c.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=)
20g.63406935G>TCA511339302KCNQ2c.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
20g.63406935_63406937delinsGGGCA2374774318KCNQ2c.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=)
20g.63406936G>ACA409637738KCNQ2c.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)
20g.63406936G>CCA409637743KCNQ2c.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)
20g.63406936G=CA2374774319KCNQ2c.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=)
20g.63406936G>TCA9958098KCNQ2c.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
20g.63406936_63406937delinsTCA915952957KCNQ2c.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
20g.63406937G>ACA409637745KCNQ2c.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
20g.63406937G>CCA409637748KCNQ2c.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)
20g.63406937G>TCA409637749KCNQ2c.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
20g.63406938C>ACA409637753KCNQ2c.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
20g.63406938C=CA2374774320KCNQ2c.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=)
20g.63406938C>GCA409637754KCNQ2c.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)
20g.63406938C>TCA511339309KCNQ2c.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
20g.63406939C>ACA409637758KCNQ2c.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
20g.63406939C>GCA409637761KCNQ2c.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)
20g.63406939C>TCA409637763KCNQ2c.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
20g.63406940T>ACA409637767KCNQ2c.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
20g.63406940T>CCA409637769KCNQ2c.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
20g.63406940T>GCA511339310KCNQ2c.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
20g.63406941G>ACA9958099KCNQ2c.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
20g.63406941G>CCA409637774KCNQ2c.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)
20g.63406941G=CA2374774321KCNQ2c.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=)
20g.63406941G>TCA409637772KCNQ2c.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
20g.63406941_63406942delinsATCA916083759KCNQ2c.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
20g.63406941_63406942delinsGCCA2374774322KCNQ2c.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=)
20g.63406942delCA2499225800KCNQ2c.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
20g.63406942C>ACA409637781KCNQ2c.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
20g.63406942C=CA2374774323KCNQ2c.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=)
20g.63406942C>GCA409637786KCNQ2c.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
20g.63406942C>TCA9958100KCNQ2c.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
20g.63406943A>CCA409637790KCNQ2c.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)
20g.63406943A>GCA409637793KCNQ2c.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
20g.63406943A>TCA409637796KCNQ2c.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
20g.63406944G>ACA511339315KCNQ2c.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=)
20g.63406944G>CCA511339316KCNQ2c.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=)
20g.63406944G=CA2374774324KCNQ2c.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=)
20g.63406944G>TCA511339317KCNQ2c.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
20g.63406945C>ACA409637800KCNQ2c.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
20g.63406945C>GCA409637801KCNQ2c.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
20g.63406945C>TCA409637803KCNQ2c.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
20g.63406947dupCA16609700KCNQ2c.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
20g.63406946C>ACA409637807KCNQ2c.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
20g.63406946C=CA2374774325KCNQ2c.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=)
20g.63406946C>GCA409637810KCNQ2c.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)
20g.63406946C>TCA409637813KCNQ2c.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
20g.63406947C>ACA511339322KCNQ2c.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
20g.63406947C=CA2374774326KCNQ2c.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=)
20g.63406947C>GCA9958101KCNQ2c.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
20g.63406947C>TCA231195KCNQ2c.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
20g.63406947_63406948delinsCGCA2374774327KCNQ2c.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=)
20g.63406948G>ACA9958102KCNQ2c.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
20g.63406948G>CCA409637825KCNQ2c.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
20g.63406948G=CA2374774328KCNQ2c.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=)
20g.63406948G>TCA409637822KCNQ2c.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
20g.63406948_63406949delinsCCCA2573157295KCNQ2c.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
20g.63406951delCA1139666803KCNQ2c.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
20g.63406949G>ACA409637830KCNQ2c.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
20g.63406949G>CCA409637831KCNQ2c.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
20g.63406949G=CA2374774329KCNQ2c.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=)
20g.63406949G>TCA409637835KCNQ2c.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
20g.63406950G>ACA511339323KCNQ2c.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
20g.63406950G>CCA511339324KCNQ2c.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
20g.63406950G=CA2374774330KCNQ2c.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=)
20g.63406950G>TCA511339325KCNQ2c.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=)
20g.63406951G>ACA9958103KCNQ2c.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
20g.63406951G>CCA409637840KCNQ2c.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)
20g.63406951G=CA2374774331KCNQ2c.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=)
20g.63406951G>TCA409637843KCNQ2c.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
20g.63406952T>ACA409637845KCNQ2c.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)
20g.63406952T>CCA409637848KCNQ2c.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
20g.63406952T>GCA409637850KCNQ2c.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)
20g.63406952T=CA2374774332KCNQ2c.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=)
20g.63406953G>ACA511339326KCNQ2c.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
20g.63406953G>CCA409637852KCNQ2c.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)
20g.63406953G>TCA409637855KCNQ2c.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
20g.63406954T>ACA409637866KCNQ2c.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)
20g.63406954T>CCA409637863KCNQ2c.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
20g.63406954T>GCA409637860KCNQ2c.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)
20g.63406958_63406960delCA2816991467KCNQ2c.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)
20g.63406955C>ACA409637869KCNQ2c.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)
20g.63406955C>GCA409637872KCNQ2c.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)
20g.63406955C>TCA409637875KCNQ2c.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)
20g.63406956C>ACA409637877KCNQ2c.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
20g.63406956C>GCA409637880KCNQ2c.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)
20g.63406956C>TCA511339328KCNQ2c.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=)
20g.63406957T>ACA409637883KCNQ2c.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)
20g.63406957T>CCA9958104KCNQ2c.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
20g.63406957T>GCA409637887KCNQ2c.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)
20g.63406957T=CA2374774333KCNQ2c.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=)
20g.63406958C>ACA409637891KCNQ2c.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
20g.63406958C>GCA409637894KCNQ2c.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)
20g.63406958C>TCA409637896KCNQ2c.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
20g.63406959C>ACA409637900KCNQ2c.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
20g.63406959C=CA2374774334KCNQ2c.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=)
20g.63406959C>GCA409637902KCNQ2c.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
20g.63406959C>TCA511339329KCNQ2c.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
20g.63406960T>ACA409637914KCNQ2c.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)
20g.63406960T>CCA409637908KCNQ2c.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
20g.63406960T>GCA409637911KCNQ2c.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)
20g.63406960T=CA2374774335KCNQ2c.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=)
20g.63406961G>ACA409637917KCNQ2c.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)
20g.63406961G>CCA409637921KCNQ2c.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)
20g.63406961G>TCA409637924KCNQ2c.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
20g.63406962C>ACA511339333KCNQ2c.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
20g.63406962C>GCA511339331KCNQ2c.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=)
20g.63406962C>TCA511339332KCNQ2c.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=)
20g.63406963C>ACA409637926KCNQ2c.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)
20g.63406963C=CA2374774336KCNQ2c.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=)
20g.63406963C>GCA409637929KCNQ2c.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
20g.63406963C>TCA9958105KCNQ2c.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
20g.63406964G>ACA9958106KCNQ2c.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
20g.63406964G>CCA409637934KCNQ2c.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)
20g.63406964G=CA2374774337KCNQ2c.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=)
20g.63406964G>TCA511339335KCNQ2c.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=)
20g.63406965C>ACA511339336KCNQ2c.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
20g.63406965C=CA2374774338KCNQ2c.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=)
20g.63406965C>GCA317421961KCNQ2c.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
20g.63406965C>TCA511339337KCNQ2c.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
20g.63406966A>CCA409637937KCNQ2c.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)
20g.63406966A>GCA409637939KCNQ2c.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)
20g.63406966A>TCA409637943KCNQ2c.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)
20g.63406966_63406967delinsAGCA2374774339KCNQ2c.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=)
20g.63406967G>ACA511339339KCNQ2c.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
20g.63406967G>CCA409637950KCNQ2c.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)
20g.63406967G>TCA409637948KCNQ2c.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
20g.63406968delCA16043701KCNQ2c.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
20g.63406968G>ACA317421962KCNQ2c.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
20g.63406968G>CCA409637952KCNQ2c.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)
20g.63406968G=CA2374774340KCNQ2c.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=)
20g.63406968G>TCA409637958KCNQ2c.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
20g.63406969A>CCA409637961KCNQ2c.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)
20g.63406969A>GCA409637964KCNQ2c.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)
20g.63406969A>TCA409637963KCNQ2c.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)
20g.63406970A>CCA409637965KCNQ2c.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)
20g.63406970A>GCA409637966KCNQ2c.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)
20g.63406970A>TCA409637967KCNQ2c.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)
20g.63406971C>ACA409637969KCNQ2c.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)
20g.63406971C>GCA409637971KCNQ2c.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)
20g.63406971C>TCA511339346KCNQ2c.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
20g.63406972T>ACA409637974KCNQ2c.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)
20g.63406972T>CCA409637976KCNQ2c.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
20g.63406972T>GCA409637978KCNQ2c.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)
20g.63406973C>ACA409637979KCNQ2c.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
20g.63406973C>GCA409637981KCNQ2c.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)
20g.63406973C>TCA409637984KCNQ2c.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)
20g.63406974C>ACA409637992KCNQ2c.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)
20g.63406974C>GCA409637989KCNQ2c.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)
20g.63406974C>TCA409637986KCNQ2c.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
20g.63406975A=CA2374774341KCNQ2c.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=)
20g.63406975A>CCA409637996KCNQ2c.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)
20g.63406975A>GCA409637998KCNQ2c.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
20g.63406975A>TCA409638003KCNQ2c.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)
20g.63406976T>ACA409638006KCNQ2c.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
20g.63406976T>CCA317421963KCNQ2c.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
20g.63406976T>GCA317421967KCNQ2c.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
20g.63406976T=CA2374774343KCNQ2c.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=)
20g.63406978_63406980dupCA2374774344KCNQ2c.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
20g.63406976_63406991delinsTGCTGGCGCGGTTGCCCA2374774342KCNQ2c.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=)
20g.63406977G>ACA511339352KCNQ2c.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
20g.63406977G>CCA409638014KCNQ2c.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)
20g.63406977G=CA2374774345KCNQ2c.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=)
20g.63406977G>TCA409638017KCNQ2c.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
20g.63406977_63406991delCA1139666804KCNQ2c.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
20g.63406978C>ACA409638018KCNQ2c.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)
20g.63406978C>GCA409638019KCNQ2c.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)
20g.63406978C>TCA409638020KCNQ2c.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
20g.63406979T>ACA409638029KCNQ2c.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)
20g.63406979T>CCA409638024KCNQ2c.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)
20g.63406979T>GCA409638022KCNQ2c.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)
20g.63406980G>ACA511339357KCNQ2c.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=)
20g.63406980G>CCA511339358KCNQ2c.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=)
20g.63406980G>TCA511339359KCNQ2c.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=)
20g.63406981G>ACA409638033KCNQ2c.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
20g.63406981G>CCA409638035KCNQ2c.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)
20g.63406981G>TCA409638042KCNQ2c.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)
20g.63406982C>ACA9958107KCNQ2c.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
20g.63406982C=CA2374774346KCNQ2c.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=)
20g.63406982C>GCA409638044KCNQ2c.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
20g.63406982C>TCA231192KCNQ2c.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
20g.63406983G>ACA9958108KCNQ2c.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
20g.63406983G>CCA511339364KCNQ2c.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=)
20g.63406983G=CA2374774347KCNQ2c.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=)
20g.63406983G>TCA511339365KCNQ2c.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=)
20g.63406984C>ACA409638053KCNQ2c.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
20g.63406984C=CA2374774348KCNQ2c.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=)
20g.63406984C>GCA409638056KCNQ2c.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)
20g.63406984C>TCA338900KCNQ2c.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
20g.63406984_63406985delinsCGCA2374774349KCNQ2c.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=)
20g.63406985G>ACA409638061KCNQ2c.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
20g.63406985G>CCA409638063KCNQ2c.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)
20g.63406985G=CA2374774350KCNQ2c.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=)
20g.63406985G>TCA409638066KCNQ2c.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)
20g.63406986delCA658658882KCNQ2c.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
20g.63406986G>ACA511339369KCNQ2c.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
20g.63406986G>CCA409638070KCNQ2c.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)
20g.63406986G=CA2374774351KCNQ2c.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=)
20g.63406986G>TCA9958109KCNQ2c.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
20g.63406987T>ACA409638075KCNQ2c.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)
20g.63406987T>CCA409638077KCNQ2c.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
20g.63406987T>GCA409638080KCNQ2c.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)
20g.63406987T=CA2374774352KCNQ2c.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=)
20g.63406988dupCA916083760KCNQ2c.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
20g.63406988T>ACA409638084KCNQ2c.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)
20g.63406988T>CCA409638086KCNQ2c.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)
20g.63406988T>GCA409638087KCNQ2c.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
20g.63406989G>ACA511339373KCNQ2c.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
20g.63406989G>CCA317422000KCNQ2c.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
20g.63406989G=CA2374774353KCNQ2c.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=)
20g.63406989G>TCA511339372KCNQ2c.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=)
20g.63406990C>ACA409638089KCNQ2c.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)
20g.63406990C=CA2374774354KCNQ2c.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=)
20g.63406990C>GCA409638092KCNQ2c.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)
20g.63406990C>TCA409638094KCNQ2c.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
20g.63406994delCA2653805288KCNQ2c.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
20g.63406991C>ACA409638096KCNQ2c.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)
20g.63406991C>GCA409638098KCNQ2c.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)
20g.63406991C>TCA409638100KCNQ2c.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)
20g.63406992C>ACA511339376KCNQ2c.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
20g.63406992C>GCA511339377KCNQ2c.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
20g.63406992C>TCA511339378KCNQ2c.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
20g.63406994_63406997delCA2580616358KCNQ2c.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
20g.63406993C>ACA409638104KCNQ2c.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
20g.63406993C>GCA409638106KCNQ2c.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)
20g.63406993C>TCA409638102KCNQ2c.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
20g.63406994C>ACA409638108KCNQ2c.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
20g.63406994C>GCA409638110KCNQ2c.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)
20g.63406994C>TCA409638112KCNQ2c.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
20g.63406995G>ACA9958110KCNQ2c.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
20g.63406995G>CCA511339383KCNQ2c.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=)
20g.63406995G=CA2374774355KCNQ2c.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=)
20g.63406995G>TCA511339384KCNQ2c.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
20g.63406996C>ACA409638115KCNQ2c.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)
20g.63406996C>GCA409638117KCNQ2c.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)
20g.63406996C>TCA409638118KCNQ2c.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)
20g.63406997C>ACA409638120KCNQ2c.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
20g.63406997C=CA2374774356KCNQ2c.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=)
20g.63406997C>GCA409638122KCNQ2c.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)
20g.63406997C>TCA315315KCNQ2c.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
20g.63406998G>ACA9958111KCNQ2c.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
20g.63406998G>CCA409638126KCNQ2c.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)
20g.63406998G=CA2374774357KCNQ2c.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=)
20g.63406998G>TCA409638128KCNQ2c.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
20g.63406999T>ACA409638133KCNQ2c.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)
20g.63406999T>CCA240975KCNQ2c.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
20g.63406999T>GCA409638130KCNQ2c.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)
20g.63406999T=CA2374774360KCNQ2c.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=)
20g.63406999_63407000delinsCTCA2374774359KCNQ2c.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
20g.63406999_63407000delinsTACA2374774358KCNQ2c.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=)
20g.63407000A>CCA409638135KCNQ2c.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)
20g.63407000A>GCA409638136KCNQ2c.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
20g.63407000A>TCA409638138KCNQ2c.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)
20g.63407001G>ACA9958112KCNQ2c.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
20g.63407001G>CCA511339391KCNQ2c.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=)
20g.63407001G=CA2374774361KCNQ2c.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=)
20g.63407001G>TCA511339392KCNQ2c.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
20g.63407002G>ACA409638147KCNQ2c.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
20g.63407002G>CCA409638150KCNQ2c.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)
20g.63407002G>TCA409638153KCNQ2c.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
20g.63407003C>ACA409638159KCNQ2c.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
20g.63407003C=CA2374774362KCNQ2c.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=)
20g.63407003C>GCA409638162KCNQ2c.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)
20g.63407003C>TCA9958113KCNQ2c.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
20g.63407004G>ACA9958114KCNQ2c.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
20g.63407004G>CCA511339395KCNQ2c.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=)
20g.63407004G=CA2374774363KCNQ2c.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=)
20g.63407004G>TCA511339396KCNQ2c.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
20g.63407005G>ACA409638167KCNQ2c.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
20g.63407005G>CCA409638169KCNQ2c.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)
20g.63407005G>TCA409638172KCNQ2c.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
20g.63407006A>CCA409638174KCNQ2c.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)
20g.63407006A>GCA409638175KCNQ2c.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
20g.63407006A>TCA409638173KCNQ2c.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)
20g.63407007C>ACA511339399KCNQ2c.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
20g.63407007C>GCA511339400KCNQ2c.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
20g.63407007C>TCA511339401KCNQ2c.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
20g.63407007_63407031delCA2653805334KCNQ2c.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
20g.63407008A>CCA409638177KCNQ2c.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)
20g.63407008A>GCA409638180KCNQ2c.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
20g.63407008A>TCA409638183KCNQ2c.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)
20g.63407009G>ACA511339447KCNQ2c.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
20g.63407009G>CCA409638190KCNQ2c.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)
20g.63407009G>TCA409638193KCNQ2c.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
20g.63407010C>ACA511339449KCNQ2c.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
20g.63407010C=CA2374774364KCNQ2c.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=)
20g.63407010C>GCA511339448KCNQ2c.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=)
20g.63407010C>TCA9958115KCNQ2c.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
20g.63407011G>ACA9958116KCNQ2c.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
20g.63407011G>CCA409638204KCNQ2c.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)
20g.63407011G=CA2374774365KCNQ2c.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=)
20g.63407011G>TCA409638206KCNQ2c.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
20g.63407012A>CCA409638208KCNQ2c.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
20g.63407012A>GCA409638210KCNQ2c.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
20g.63407012A>TCA409638213KCNQ2c.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)
20g.63407013C>ACA511339450KCNQ2c.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
20g.63407013C=CA2374774366KCNQ2c.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=)
20g.63407013C>GCA511339451KCNQ2c.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=)
20g.63407013C>TCA511339452KCNQ2c.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
20g.63407014C>ACA409638219KCNQ2c.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
20g.63407014C=CA2374774367KCNQ2c.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=)
20g.63407014C>GCA409638221KCNQ2c.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)
20g.63407014C>TCA409638217KCNQ2c.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
20g.63407015G>ACA409638228KCNQ2c.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
20g.63407015G>CCA409638232KCNQ2c.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
20g.63407015G=CA2374774368KCNQ2c.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=)
20g.63407015G>TCA9958117KCNQ2c.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
20g.63407016C>ACA409638237KCNQ2c.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
20g.63407016C>GCA409638239KCNQ2c.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)
20g.63407016C>TCA511339453KCNQ2c.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
20g.63407017T>ACA409638251KCNQ2c.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)
20g.63407017T>CCA409638245KCNQ2c.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)
20g.63407017T>GCA409638248KCNQ2c.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)
20g.63407018C>ACA090958KCNQ2c.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
20g.63407018C=CA2374774369KCNQ2c.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=)
20g.63407018C>GCA409638257KCNQ2c.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
20g.63407018C>TCA409638259KCNQ2c.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
20g.63407019G>ACA9958118KCNQ2c.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
20g.63407019G>CCA409638264KCNQ2c.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
20g.63407019G=CA2374774370KCNQ2c.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=)
20g.63407019G>TCA409638267KCNQ2c.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
20g.63407020T>ACA409638277KCNQ2c.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)
20g.63407020T>CCA409638274KCNQ2c.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
20g.63407020T>GCA409638271KCNQ2c.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
20g.63407020T=CA2374774371KCNQ2c.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=)
20g.63407021G>ACA409638278KCNQ2c.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
20g.63407021G>CCA409638284KCNQ2c.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)
20g.63407021G>TCA409638280KCNQ2c.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
20g.63407023delCA2580098412KCNQ2c.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
20g.63407022G>ACA511339454KCNQ2c.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
20g.63407022G>CCA511339455KCNQ2c.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
20g.63407022G>TCA511339456KCNQ2c.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
20g.63407023G>ACA409638288KCNQ2c.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
20g.63407023G>CCA409638293KCNQ2c.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)
20g.63407023G=CA2374774372KCNQ2c.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=)
20g.63407023G>TCA409638290KCNQ2c.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)
20g.63407024C>ACA409638296KCNQ2c.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
20g.63407024C>GCA409638298KCNQ2c.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)
20g.63407024C>TCA409638301KCNQ2c.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
20g.63407025A=CA2374774373KCNQ2c.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=)
20g.63407025A>CCA511339457KCNQ2c.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=)
20g.63407025A>GCA511339458KCNQ2c.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
20g.63407025A>TCA153292KCNQ2c.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
20g.63407025_63407028delinsAGGCCA2374774374KCNQ2c.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=)
20g.63407026G>ACA409638307KCNQ2c.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
20g.63407026G>CCA409638310KCNQ2c.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
20g.63407026G>TCA409638313KCNQ2c.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
20g.63407034_63407036dupCA2816991493KCNQ2c.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)
20g.63407034_63407036delCA636614187KCNQ2c.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
20g.63407027G>ACA409638316KCNQ2c.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)
20g.63407027G>CCA409638317KCNQ2c.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)
20g.63407027G>TCA409638320KCNQ2c.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
20g.63407028C>ACA511339459KCNQ2c.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
20g.63407028C=CA2374774375KCNQ2c.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=)
20g.63407028C>GCA511339460KCNQ2c.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=)
20g.63407028C>TCA090960KCNQ2c.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
20g.63407029G>ACA16043137KCNQ2c.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
20g.63407029G>CCA409638330KCNQ2c.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)
20g.63407029G=CA2374774376KCNQ2c.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=)
20g.63407029G>TCA409638327KCNQ2c.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
20g.63407030G>ACA409638335KCNQ2c.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
20g.63407030G>CCA409638338KCNQ2c.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)
20g.63407030G=CA2374774377KCNQ2c.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=)
20g.63407030G>TCA409638340KCNQ2c.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
20g.63407031C>ACA317422098KCNQ2c.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
20g.63407031C=CA2374774378KCNQ2c.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=)
20g.63407031C>GCA511339461KCNQ2c.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=)
20g.63407031C>TCA9958119KCNQ2c.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
20g.63407032G>ACA409638349KCNQ2c.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
20g.63407032G>CCA409638352KCNQ2c.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)
20g.63407032G=CA2374774379KCNQ2c.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=)
20g.63407032G>TCA409638355KCNQ2c.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
20g.63407033G>ACA9958120KCNQ2c.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
20g.63407033G>CCA409638366KCNQ2c.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)
20g.63407033G=CA2374774380KCNQ2c.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=)
20g.63407033G>TCA409638368KCNQ2c.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

Number of alleles fetched