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.63406889A>CCA409637427KCNQ2c.2428T>G (p.Ser810Ala)
c.2374T>G (p.Ser792Ala)
c.1771T>G (p.Ser591Ala)
c.2281T>G (p.Ser761Ala)
c.1942T>G (p.Ser648Ala)
c.2290T>G (p.Ser764Ala)
c.2241+157T>G (n.2241+157T>G)
c.2205+157T>G (n.2205+157T>G)
c.2320T>G (p.Ser774Ala)
c.2133+157T>G (n.2133+157T>G)
c.1680-6046T>G (n.1680-6046T>G)
c.2416T>G (p.Ser806Ala)
c.2482T>G (p.Ser828Ala)
c.2479T>G (p.Ser827Ala)
c.2452T>G (p.Ser818Ala)
c.2398T>G (p.Ser800Ala)
c.2371T>G (p.Ser791Ala)
c.2356T>G (p.Ser786Ala)
c.1963T>G (p.Ser655Ala)
c.2425T>G (p.Ser809Ala)
c.2362T>G (p.Ser788Ala)
c.2359T>G (p.Ser787Ala)
c.2317T>G (p.Ser773Ala)
c.1390T>G (p.Ser464Ala)
20g.63406889A>GCA409637430KCNQ2c.2428T>C (p.Ser810Pro)
c.2374T>C (p.Ser792Pro)
c.1771T>C (p.Ser591Pro)
c.2281T>C (p.Ser761Pro)
c.1942T>C (p.Ser648Pro)
c.2290T>C (p.Ser764Pro)
c.2241+157T>C (n.2241+157T>C)
c.2205+157T>C (n.2205+157T>C)
c.2320T>C (p.Ser774Pro)
c.2133+157T>C (n.2133+157T>C)
c.1680-6046T>C (n.1680-6046T>C)
c.2416T>C (p.Ser806Pro)
c.2482T>C (p.Ser828Pro)
c.2479T>C (p.Ser827Pro)
c.2452T>C (p.Ser818Pro)
c.2398T>C (p.Ser800Pro)
c.2371T>C (p.Ser791Pro)
c.2356T>C (p.Ser786Pro)
c.1963T>C (p.Ser655Pro)
c.2425T>C (p.Ser809Pro)
c.2362T>C (p.Ser788Pro)
c.2359T>C (p.Ser787Pro)
c.2317T>C (p.Ser773Pro)
c.1390T>C (p.Ser464Pro)
20g.63406889A>TCA409637431KCNQ2c.2428T>A (p.Ser810Thr)
c.2374T>A (p.Ser792Thr)
c.1771T>A (p.Ser591Thr)
c.2281T>A (p.Ser761Thr)
c.1942T>A (p.Ser648Thr)
c.2290T>A (p.Ser764Thr)
c.2241+157T>A (n.2241+157T>A)
c.2205+157T>A (n.2205+157T>A)
c.2320T>A (p.Ser774Thr)
c.2133+157T>A (n.2133+157T>A)
c.1680-6046T>A (n.1680-6046T>A)
c.2416T>A (p.Ser806Thr)
c.2482T>A (p.Ser828Thr)
c.2479T>A (p.Ser827Thr)
c.2452T>A (p.Ser818Thr)
c.2398T>A (p.Ser800Thr)
c.2371T>A (p.Ser791Thr)
c.2356T>A (p.Ser786Thr)
c.1963T>A (p.Ser655Thr)
c.2425T>A (p.Ser809Thr)
c.2362T>A (p.Ser788Thr)
c.2359T>A (p.Ser787Thr)
c.2317T>A (p.Ser773Thr)
c.1390T>A (p.Ser464Thr)
20g.63406890C>ACA511339246KCNQ2c.2427G>T (p.Pro809=)
c.2373G>T (p.Pro791=)
c.1770G>T (p.Pro590=)
c.2280G>T (p.Pro760=)
c.1941G>T (p.Pro647=)
c.2289G>T (p.Pro763=)
c.2241+156G>T (n.2241+156G>T)
c.2205+156G>T (n.2205+156G>T)
c.2319G>T (p.Pro773=)
c.2133+156G>T (n.2133+156G>T)
c.1680-6047G>T (n.1680-6047G>T)
c.2415G>T (p.Pro805=)
c.2481G>T (p.Pro827=)
c.2478G>T (p.Pro826=)
c.2451G>T (p.Pro817=)
c.2397G>T (p.Pro799=)
c.2370G>T (p.Pro790=)
c.2355G>T (p.Pro785=)
c.1962G>T (p.Pro654=)
c.2424G>T (p.Pro808=)
c.2361G>T (p.Pro787=)
c.2358G>T (p.Pro786=)
c.2316G>T (p.Pro772=)
c.1389G>T (p.Pro463=)
 dbSNP
20g.63406890C=CA2374774288KCNQ2c.2427G= (p.Pro809=)
c.2373G= (p.Pro791=)
c.1770G= (p.Pro590=)
c.2280G= (p.Pro760=)
c.1941G= (p.Pro647=)
c.2289G= (p.Pro763=)
c.2241+156G= (n.2241+156G=)
c.2205+156G= (n.2205+156G=)
c.2319G= (p.Pro773=)
c.2133+156G= (n.2133+156G=)
c.1680-6047G= (n.1680-6047G=)
c.2415G= (p.Pro805=)
c.2481G= (p.Pro827=)
c.2478G= (p.Pro826=)
c.2451G= (p.Pro817=)
c.2397G= (p.Pro799=)
c.2370G= (p.Pro790=)
c.2355G= (p.Pro785=)
c.1962G= (p.Pro654=)
c.2424G= (p.Pro808=)
c.2361G= (p.Pro787=)
c.2358G= (p.Pro786=)
c.2316G= (p.Pro772=)
c.1389G= (p.Pro463=)
20g.63406890C>GCA511339247KCNQ2c.2427G>C (p.Pro809=)
c.2373G>C (p.Pro791=)
c.1770G>C (p.Pro590=)
c.2280G>C (p.Pro760=)
c.1941G>C (p.Pro647=)
c.2289G>C (p.Pro763=)
c.2241+156G>C (n.2241+156G>C)
c.2205+156G>C (n.2205+156G>C)
c.2319G>C (p.Pro773=)
c.2133+156G>C (n.2133+156G>C)
c.1680-6047G>C (n.1680-6047G>C)
c.2415G>C (p.Pro805=)
c.2481G>C (p.Pro827=)
c.2478G>C (p.Pro826=)
c.2451G>C (p.Pro817=)
c.2397G>C (p.Pro799=)
c.2370G>C (p.Pro790=)
c.2355G>C (p.Pro785=)
c.1962G>C (p.Pro654=)
c.2424G>C (p.Pro808=)
c.2361G>C (p.Pro787=)
c.2358G>C (p.Pro786=)
c.2316G>C (p.Pro772=)
c.1389G>C (p.Pro463=)
20g.63406890C>TCA9958086KCNQ2c.2427G>A (p.Pro809=)
c.2373G>A (p.Pro791=)
c.1770G>A (p.Pro590=)
c.2280G>A (p.Pro760=)
c.1941G>A (p.Pro647=)
c.2289G>A (p.Pro763=)
c.2241+156G>A (n.2241+156G>A)
c.2205+156G>A (n.2205+156G>A)
c.2319G>A (p.Pro773=)
c.2133+156G>A (n.2133+156G>A)
c.1680-6047G>A (n.1680-6047G>A)
c.2415G>A (p.Pro805=)
c.2481G>A (p.Pro827=)
c.2478G>A (p.Pro826=)
c.2451G>A (p.Pro817=)
c.2397G>A (p.Pro799=)
c.2370G>A (p.Pro790=)
c.2355G>A (p.Pro785=)
c.1962G>A (p.Pro654=)
c.2424G>A (p.Pro808=)
c.2361G>A (p.Pro787=)
c.2358G>A (p.Pro786=)
c.2316G>A (p.Pro772=)
c.1389G>A (p.Pro463=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406891G>ACA409637442KCNQ2c.2426C>T (p.Pro809Leu)
c.2372C>T (p.Pro791Leu)
c.1769C>T (p.Pro590Leu)
c.2279C>T (p.Pro760Leu)
c.1940C>T (p.Pro647Leu)
c.2288C>T (p.Pro763Leu)
c.2241+155C>T (n.2241+155C>T)
c.2205+155C>T (n.2205+155C>T)
c.2318C>T (p.Pro773Leu)
c.2133+155C>T (n.2133+155C>T)
c.1680-6048C>T (n.1680-6048C>T)
c.2414C>T (p.Pro805Leu)
c.2480C>T (p.Pro827Leu)
c.2477C>T (p.Pro826Leu)
c.2450C>T (p.Pro817Leu)
c.2396C>T (p.Pro799Leu)
c.2369C>T (p.Pro790Leu)
c.2354C>T (p.Pro785Leu)
c.1961C>T (p.Pro654Leu)
c.2423C>T (p.Pro808Leu)
c.2360C>T (p.Pro787Leu)
c.2357C>T (p.Pro786Leu)
c.2315C>T (p.Pro772Leu)
c.1388C>T (p.Pro463Leu)
 dbSNP gnomAD v2 gnomAD v4
20g.63406891G>CCA409637436KCNQ2c.2426C>G (p.Pro809Arg)
c.2372C>G (p.Pro791Arg)
c.1769C>G (p.Pro590Arg)
c.2279C>G (p.Pro760Arg)
c.1940C>G (p.Pro647Arg)
c.2288C>G (p.Pro763Arg)
c.2241+155C>G (n.2241+155C>G)
c.2205+155C>G (n.2205+155C>G)
c.2318C>G (p.Pro773Arg)
c.2133+155C>G (n.2133+155C>G)
c.1680-6048C>G (n.1680-6048C>G)
c.2414C>G (p.Pro805Arg)
c.2480C>G (p.Pro827Arg)
c.2477C>G (p.Pro826Arg)
c.2450C>G (p.Pro817Arg)
c.2396C>G (p.Pro799Arg)
c.2369C>G (p.Pro790Arg)
c.2354C>G (p.Pro785Arg)
c.1961C>G (p.Pro654Arg)
c.2423C>G (p.Pro808Arg)
c.2360C>G (p.Pro787Arg)
c.2357C>G (p.Pro786Arg)
c.2315C>G (p.Pro772Arg)
c.1388C>G (p.Pro463Arg)
20g.63406891G=CA2374774289KCNQ2c.2426C= (p.Pro809=)
c.2372C= (p.Pro791=)
c.1769C= (p.Pro590=)
c.2279C= (p.Pro760=)
c.1940C= (p.Pro647=)
c.2288C= (p.Pro763=)
c.2241+155C= (n.2241+155C=)
c.2205+155C= (n.2205+155C=)
c.2318C= (p.Pro773=)
c.2133+155C= (n.2133+155C=)
c.1680-6048C= (n.1680-6048C=)
c.2414C= (p.Pro805=)
c.2480C= (p.Pro827=)
c.2477C= (p.Pro826=)
c.2450C= (p.Pro817=)
c.2396C= (p.Pro799=)
c.2369C= (p.Pro790=)
c.2354C= (p.Pro785=)
c.1961C= (p.Pro654=)
c.2423C= (p.Pro808=)
c.2360C= (p.Pro787=)
c.2357C= (p.Pro786=)
c.2315C= (p.Pro772=)
c.1388C= (p.Pro463=)
20g.63406891G>TCA409637439KCNQ2c.2426C>A (p.Pro809Gln)
c.2372C>A (p.Pro791Gln)
c.1769C>A (p.Pro590Gln)
c.2279C>A (p.Pro760Gln)
c.1940C>A (p.Pro647Gln)
c.2288C>A (p.Pro763Gln)
c.2241+155C>A (n.2241+155C>A)
c.2205+155C>A (n.2205+155C>A)
c.2318C>A (p.Pro773Gln)
c.2133+155C>A (n.2133+155C>A)
c.1680-6048C>A (n.1680-6048C>A)
c.2414C>A (p.Pro805Gln)
c.2480C>A (p.Pro827Gln)
c.2477C>A (p.Pro826Gln)
c.2450C>A (p.Pro817Gln)
c.2396C>A (p.Pro799Gln)
c.2369C>A (p.Pro790Gln)
c.2354C>A (p.Pro785Gln)
c.1961C>A (p.Pro654Gln)
c.2423C>A (p.Pro808Gln)
c.2360C>A (p.Pro787Gln)
c.2357C>A (p.Pro786Gln)
c.2315C>A (p.Pro772Gln)
c.1388C>A (p.Pro463Gln)
20g.63406892G>ACA409637445KCNQ2c.2425C>T (p.Pro809Ser)
c.2371C>T (p.Pro791Ser)
c.1768C>T (p.Pro590Ser)
c.2278C>T (p.Pro760Ser)
c.1939C>T (p.Pro647Ser)
c.2287C>T (p.Pro763Ser)
c.2241+154C>T (n.2241+154C>T)
c.2205+154C>T (n.2205+154C>T)
c.2317C>T (p.Pro773Ser)
c.2133+154C>T (n.2133+154C>T)
c.1680-6049C>T (n.1680-6049C>T)
c.2413C>T (p.Pro805Ser)
c.2479C>T (p.Pro827Ser)
c.2476C>T (p.Pro826Ser)
c.2449C>T (p.Pro817Ser)
c.2395C>T (p.Pro799Ser)
c.2368C>T (p.Pro790Ser)
c.2353C>T (p.Pro785Ser)
c.1960C>T (p.Pro654Ser)
c.2422C>T (p.Pro808Ser)
c.2359C>T (p.Pro787Ser)
c.2356C>T (p.Pro786Ser)
c.2314C>T (p.Pro772Ser)
c.1387C>T (p.Pro463Ser)
 COSMIC COSMIC COSMIC
20g.63406892G>CCA409637447KCNQ2c.2425C>G (p.Pro809Ala)
c.2371C>G (p.Pro791Ala)
c.1768C>G (p.Pro590Ala)
c.2278C>G (p.Pro760Ala)
c.1939C>G (p.Pro647Ala)
c.2287C>G (p.Pro763Ala)
c.2241+154C>G (n.2241+154C>G)
c.2205+154C>G (n.2205+154C>G)
c.2317C>G (p.Pro773Ala)
c.2133+154C>G (n.2133+154C>G)
c.1680-6049C>G (n.1680-6049C>G)
c.2413C>G (p.Pro805Ala)
c.2479C>G (p.Pro827Ala)
c.2476C>G (p.Pro826Ala)
c.2449C>G (p.Pro817Ala)
c.2395C>G (p.Pro799Ala)
c.2368C>G (p.Pro790Ala)
c.2353C>G (p.Pro785Ala)
c.1960C>G (p.Pro654Ala)
c.2422C>G (p.Pro808Ala)
c.2359C>G (p.Pro787Ala)
c.2356C>G (p.Pro786Ala)
c.2314C>G (p.Pro772Ala)
c.1387C>G (p.Pro463Ala)
20g.63406892G>TCA409637450KCNQ2c.2425C>A (p.Pro809Thr)
c.2371C>A (p.Pro791Thr)
c.1768C>A (p.Pro590Thr)
c.2278C>A (p.Pro760Thr)
c.1939C>A (p.Pro647Thr)
c.2287C>A (p.Pro763Thr)
c.2241+154C>A (n.2241+154C>A)
c.2205+154C>A (n.2205+154C>A)
c.2317C>A (p.Pro773Thr)
c.2133+154C>A (n.2133+154C>A)
c.1680-6049C>A (n.1680-6049C>A)
c.2413C>A (p.Pro805Thr)
c.2479C>A (p.Pro827Thr)
c.2476C>A (p.Pro826Thr)
c.2449C>A (p.Pro817Thr)
c.2395C>A (p.Pro799Thr)
c.2368C>A (p.Pro790Thr)
c.2353C>A (p.Pro785Thr)
c.1960C>A (p.Pro654Thr)
c.2422C>A (p.Pro808Thr)
c.2359C>A (p.Pro787Thr)
c.2356C>A (p.Pro786Thr)
c.2314C>A (p.Pro772Thr)
c.1387C>A (p.Pro463Thr)
20g.63406893G>ACA9958087KCNQ2c.2424C>T (p.Ile808=)
c.2370C>T (p.Ile790=)
c.1767C>T (p.Ile589=)
c.2277C>T (p.Ile759=)
c.1938C>T (p.Ile646=)
c.2286C>T (p.Ile762=)
c.2241+153C>T (n.2241+153C>T)
c.2205+153C>T (n.2205+153C>T)
c.2316C>T (p.Ile772=)
c.2133+153C>T (n.2133+153C>T)
c.1680-6050C>T (n.1680-6050C>T)
c.2412C>T (p.Ile804=)
c.2478C>T (p.Ile826=)
c.2475C>T (p.Ile825=)
c.2448C>T (p.Ile816=)
c.2394C>T (p.Ile798=)
c.2367C>T (p.Ile789=)
c.2352C>T (p.Ile784=)
c.1959C>T (p.Ile653=)
c.2421C>T (p.Ile807=)
c.2358C>T (p.Ile786=)
c.2355C>T (p.Ile785=)
c.2313C>T (p.Ile771=)
c.1386C>T (p.Ile462=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
20g.63406893G>CCA409637454KCNQ2c.2424C>G (p.Ile808Met)
c.2370C>G (p.Ile790Met)
c.1767C>G (p.Ile589Met)
c.2277C>G (p.Ile759Met)
c.1938C>G (p.Ile646Met)
c.2286C>G (p.Ile762Met)
c.2241+153C>G (n.2241+153C>G)
c.2205+153C>G (n.2205+153C>G)
c.2316C>G (p.Ile772Met)
c.2133+153C>G (n.2133+153C>G)
c.1680-6050C>G (n.1680-6050C>G)
c.2412C>G (p.Ile804Met)
c.2478C>G (p.Ile826Met)
c.2475C>G (p.Ile825Met)
c.2448C>G (p.Ile816Met)
c.2394C>G (p.Ile798Met)
c.2367C>G (p.Ile789Met)
c.2352C>G (p.Ile784Met)
c.1959C>G (p.Ile653Met)
c.2421C>G (p.Ile807Met)
c.2358C>G (p.Ile786Met)
c.2355C>G (p.Ile785Met)
c.2313C>G (p.Ile771Met)
c.1386C>G (p.Ile462Met)
20g.63406893G=CA2374774290KCNQ2c.2424C= (p.Ile808=)
c.2370C= (p.Ile790=)
c.1767C= (p.Ile589=)
c.2277C= (p.Ile759=)
c.1938C= (p.Ile646=)
c.2286C= (p.Ile762=)
c.2241+153C= (n.2241+153C=)
c.2205+153C= (n.2205+153C=)
c.2316C= (p.Ile772=)
c.2133+153C= (n.2133+153C=)
c.1680-6050C= (n.1680-6050C=)
c.2412C= (p.Ile804=)
c.2478C= (p.Ile826=)
c.2475C= (p.Ile825=)
c.2448C= (p.Ile816=)
c.2394C= (p.Ile798=)
c.2367C= (p.Ile789=)
c.2352C= (p.Ile784=)
c.1959C= (p.Ile653=)
c.2421C= (p.Ile807=)
c.2358C= (p.Ile786=)
c.2355C= (p.Ile785=)
c.2313C= (p.Ile771=)
c.1386C= (p.Ile462=)
20g.63406893G>TCA511339248KCNQ2c.2424C>A (p.Ile808=)
c.2370C>A (p.Ile790=)
c.1767C>A (p.Ile589=)
c.2277C>A (p.Ile759=)
c.1938C>A (p.Ile646=)
c.2286C>A (p.Ile762=)
c.2241+153C>A (n.2241+153C>A)
c.2205+153C>A (n.2205+153C>A)
c.2316C>A (p.Ile772=)
c.2133+153C>A (n.2133+153C>A)
c.1680-6050C>A (n.1680-6050C>A)
c.2412C>A (p.Ile804=)
c.2478C>A (p.Ile826=)
c.2475C>A (p.Ile825=)
c.2448C>A (p.Ile816=)
c.2394C>A (p.Ile798=)
c.2367C>A (p.Ile789=)
c.2352C>A (p.Ile784=)
c.1959C>A (p.Ile653=)
c.2421C>A (p.Ile807=)
c.2358C>A (p.Ile786=)
c.2355C>A (p.Ile785=)
c.2313C>A (p.Ile771=)
c.1386C>A (p.Ile462=)
 gnomAD v4
20g.63406894A>CCA409637456KCNQ2c.2423T>G (p.Ile808Ser)
c.2369T>G (p.Ile790Ser)
c.1766T>G (p.Ile589Ser)
c.2276T>G (p.Ile759Ser)
c.1937T>G (p.Ile646Ser)
c.2285T>G (p.Ile762Ser)
c.2241+152T>G (n.2241+152T>G)
c.2205+152T>G (n.2205+152T>G)
c.2315T>G (p.Ile772Ser)
c.2133+152T>G (n.2133+152T>G)
c.1680-6051T>G (n.1680-6051T>G)
c.2411T>G (p.Ile804Ser)
c.2477T>G (p.Ile826Ser)
c.2474T>G (p.Ile825Ser)
c.2447T>G (p.Ile816Ser)
c.2393T>G (p.Ile798Ser)
c.2366T>G (p.Ile789Ser)
c.2351T>G (p.Ile784Ser)
c.1958T>G (p.Ile653Ser)
c.2420T>G (p.Ile807Ser)
c.2357T>G (p.Ile786Ser)
c.2354T>G (p.Ile785Ser)
c.2312T>G (p.Ile771Ser)
c.1385T>G (p.Ile462Ser)
20g.63406894A>GCA409637458KCNQ2c.2423T>C (p.Ile808Thr)
c.2369T>C (p.Ile790Thr)
c.1766T>C (p.Ile589Thr)
c.2276T>C (p.Ile759Thr)
c.1937T>C (p.Ile646Thr)
c.2285T>C (p.Ile762Thr)
c.2241+152T>C (n.2241+152T>C)
c.2205+152T>C (n.2205+152T>C)
c.2315T>C (p.Ile772Thr)
c.2133+152T>C (n.2133+152T>C)
c.1680-6051T>C (n.1680-6051T>C)
c.2411T>C (p.Ile804Thr)
c.2477T>C (p.Ile826Thr)
c.2474T>C (p.Ile825Thr)
c.2447T>C (p.Ile816Thr)
c.2393T>C (p.Ile798Thr)
c.2366T>C (p.Ile789Thr)
c.2351T>C (p.Ile784Thr)
c.1958T>C (p.Ile653Thr)
c.2420T>C (p.Ile807Thr)
c.2357T>C (p.Ile786Thr)
c.2354T>C (p.Ile785Thr)
c.2312T>C (p.Ile771Thr)
c.1385T>C (p.Ile462Thr)
 ClinVar dbSNP gnomAD v4
20g.63406894A>TCA409637460KCNQ2c.2423T>A (p.Ile808Asn)
c.2369T>A (p.Ile790Asn)
c.1766T>A (p.Ile589Asn)
c.2276T>A (p.Ile759Asn)
c.1937T>A (p.Ile646Asn)
c.2285T>A (p.Ile762Asn)
c.2241+152T>A (n.2241+152T>A)
c.2205+152T>A (n.2205+152T>A)
c.2315T>A (p.Ile772Asn)
c.2133+152T>A (n.2133+152T>A)
c.1680-6051T>A (n.1680-6051T>A)
c.2411T>A (p.Ile804Asn)
c.2477T>A (p.Ile826Asn)
c.2474T>A (p.Ile825Asn)
c.2447T>A (p.Ile816Asn)
c.2393T>A (p.Ile798Asn)
c.2366T>A (p.Ile789Asn)
c.2351T>A (p.Ile784Asn)
c.1958T>A (p.Ile653Asn)
c.2420T>A (p.Ile807Asn)
c.2357T>A (p.Ile786Asn)
c.2354T>A (p.Ile785Asn)
c.2312T>A (p.Ile771Asn)
c.1385T>A (p.Ile462Asn)
20g.63406895T>ACA409637464KCNQ2c.2422A>T (p.Ile808Phe)
c.2368A>T (p.Ile790Phe)
c.1765A>T (p.Ile589Phe)
c.2275A>T (p.Ile759Phe)
c.1936A>T (p.Ile646Phe)
c.2284A>T (p.Ile762Phe)
c.2241+151A>T (n.2241+151A>T)
c.2205+151A>T (n.2205+151A>T)
c.2314A>T (p.Ile772Phe)
c.2133+151A>T (n.2133+151A>T)
c.1680-6052A>T (n.1680-6052A>T)
c.2410A>T (p.Ile804Phe)
c.2476A>T (p.Ile826Phe)
c.2473A>T (p.Ile825Phe)
c.2446A>T (p.Ile816Phe)
c.2392A>T (p.Ile798Phe)
c.2365A>T (p.Ile789Phe)
c.2350A>T (p.Ile784Phe)
c.1957A>T (p.Ile653Phe)
c.2419A>T (p.Ile807Phe)
c.2356A>T (p.Ile786Phe)
c.2353A>T (p.Ile785Phe)
c.2311A>T (p.Ile771Phe)
c.1384A>T (p.Ile462Phe)
20g.63406895T>CCA409637467KCNQ2c.2422A>G (p.Ile808Val)
c.2368A>G (p.Ile790Val)
c.1765A>G (p.Ile589Val)
c.2275A>G (p.Ile759Val)
c.1936A>G (p.Ile646Val)
c.2284A>G (p.Ile762Val)
c.2241+151A>G (n.2241+151A>G)
c.2205+151A>G (n.2205+151A>G)
c.2314A>G (p.Ile772Val)
c.2133+151A>G (n.2133+151A>G)
c.1680-6052A>G (n.1680-6052A>G)
c.2410A>G (p.Ile804Val)
c.2476A>G (p.Ile826Val)
c.2473A>G (p.Ile825Val)
c.2446A>G (p.Ile816Val)
c.2392A>G (p.Ile798Val)
c.2365A>G (p.Ile789Val)
c.2350A>G (p.Ile784Val)
c.1957A>G (p.Ile653Val)
c.2419A>G (p.Ile807Val)
c.2356A>G (p.Ile786Val)
c.2353A>G (p.Ile785Val)
c.2311A>G (p.Ile771Val)
c.1384A>G (p.Ile462Val)
 gnomAD v4
20g.63406895T>GCA317421801KCNQ2c.2422A>C (p.Ile808Leu)
c.2368A>C (p.Ile790Leu)
c.1765A>C (p.Ile589Leu)
c.2275A>C (p.Ile759Leu)
c.1936A>C (p.Ile646Leu)
c.2284A>C (p.Ile762Leu)
c.2241+151A>C (n.2241+151A>C)
c.2205+151A>C (n.2205+151A>C)
c.2314A>C (p.Ile772Leu)
c.2133+151A>C (n.2133+151A>C)
c.1680-6052A>C (n.1680-6052A>C)
c.2410A>C (p.Ile804Leu)
c.2476A>C (p.Ile826Leu)
c.2473A>C (p.Ile825Leu)
c.2446A>C (p.Ile816Leu)
c.2392A>C (p.Ile798Leu)
c.2365A>C (p.Ile789Leu)
c.2350A>C (p.Ile784Leu)
c.1957A>C (p.Ile653Leu)
c.2419A>C (p.Ile807Leu)
c.2356A>C (p.Ile786Leu)
c.2353A>C (p.Ile785Leu)
c.2311A>C (p.Ile771Leu)
c.1384A>C (p.Ile462Leu)
 dbSNP gnomAD v3 gnomAD v4
20g.63406895T=CA2374774291KCNQ2c.2422A= (p.Ile808=)
c.2368A= (p.Ile790=)
c.1765A= (p.Ile589=)
c.2275A= (p.Ile759=)
c.1936A= (p.Ile646=)
c.2284A= (p.Ile762=)
c.2241+151A= (n.2241+151A=)
c.2205+151A= (n.2205+151A=)
c.2314A= (p.Ile772=)
c.2133+151A= (n.2133+151A=)
c.1680-6052A= (n.1680-6052A=)
c.2410A= (p.Ile804=)
c.2476A= (p.Ile826=)
c.2473A= (p.Ile825=)
c.2446A= (p.Ile816=)
c.2392A= (p.Ile798=)
c.2365A= (p.Ile789=)
c.2350A= (p.Ile784=)
c.1957A= (p.Ile653=)
c.2419A= (p.Ile807=)
c.2356A= (p.Ile786=)
c.2353A= (p.Ile785=)
c.2311A= (p.Ile771=)
c.1384A= (p.Ile462=)
20g.63406896G>ACA511339250KCNQ2c.2421C>T (p.Ser807=)
c.2367C>T (p.Ser789=)
c.1764C>T (p.Ser588=)
c.2274C>T (p.Ser758=)
c.1935C>T (p.Ser645=)
c.2283C>T (p.Ser761=)
c.2241+150C>T (n.2241+150C>T)
c.2205+150C>T (n.2205+150C>T)
c.2313C>T (p.Ser771=)
c.2133+150C>T (n.2133+150C>T)
c.1680-6053C>T (n.1680-6053C>T)
c.2409C>T (p.Ser803=)
c.2475C>T (p.Ser825=)
c.2472C>T (p.Ser824=)
c.2445C>T (p.Ser815=)
c.2391C>T (p.Ser797=)
c.2364C>T (p.Ser788=)
c.2349C>T (p.Ser783=)
c.1956C>T (p.Ser652=)
c.2418C>T (p.Ser806=)
c.2355C>T (p.Ser785=)
c.2352C>T (p.Ser784=)
c.2310C>T (p.Ser770=)
c.1383C>T (p.Ser461=)
20g.63406896G>CCA511339251KCNQ2c.2421C>G (p.Ser807=)
c.2367C>G (p.Ser789=)
c.1764C>G (p.Ser588=)
c.2274C>G (p.Ser758=)
c.1935C>G (p.Ser645=)
c.2283C>G (p.Ser761=)
c.2241+150C>G (n.2241+150C>G)
c.2205+150C>G (n.2205+150C>G)
c.2313C>G (p.Ser771=)
c.2133+150C>G (n.2133+150C>G)
c.1680-6053C>G (n.1680-6053C>G)
c.2409C>G (p.Ser803=)
c.2475C>G (p.Ser825=)
c.2472C>G (p.Ser824=)
c.2445C>G (p.Ser815=)
c.2391C>G (p.Ser797=)
c.2364C>G (p.Ser788=)
c.2349C>G (p.Ser783=)
c.1956C>G (p.Ser652=)
c.2418C>G (p.Ser806=)
c.2355C>G (p.Ser785=)
c.2352C>G (p.Ser784=)
c.2310C>G (p.Ser770=)
c.1383C>G (p.Ser461=)
20g.63406896G>TCA511339252KCNQ2c.2421C>A (p.Ser807=)
c.2367C>A (p.Ser789=)
c.1764C>A (p.Ser588=)
c.2274C>A (p.Ser758=)
c.1935C>A (p.Ser645=)
c.2283C>A (p.Ser761=)
c.2241+150C>A (n.2241+150C>A)
c.2205+150C>A (n.2205+150C>A)
c.2313C>A (p.Ser771=)
c.2133+150C>A (n.2133+150C>A)
c.1680-6053C>A (n.1680-6053C>A)
c.2409C>A (p.Ser803=)
c.2475C>A (p.Ser825=)
c.2472C>A (p.Ser824=)
c.2445C>A (p.Ser815=)
c.2391C>A (p.Ser797=)
c.2364C>A (p.Ser788=)
c.2349C>A (p.Ser783=)
c.1956C>A (p.Ser652=)
c.2418C>A (p.Ser806=)
c.2355C>A (p.Ser785=)
c.2352C>A (p.Ser784=)
c.2310C>A (p.Ser770=)
c.1383C>A (p.Ser461=)
 gnomAD v4
20g.63406897G>ACA409637475KCNQ2c.2420C>T (p.Ser807Phe)
c.2366C>T (p.Ser789Phe)
c.1763C>T (p.Ser588Phe)
c.2273C>T (p.Ser758Phe)
c.1934C>T (p.Ser645Phe)
c.2282C>T (p.Ser761Phe)
c.2241+149C>T (n.2241+149C>T)
c.2205+149C>T (n.2205+149C>T)
c.2312C>T (p.Ser771Phe)
c.2133+149C>T (n.2133+149C>T)
c.1680-6054C>T (n.1680-6054C>T)
c.2408C>T (p.Ser803Phe)
c.2474C>T (p.Ser825Phe)
c.2471C>T (p.Ser824Phe)
c.2444C>T (p.Ser815Phe)
c.2390C>T (p.Ser797Phe)
c.2363C>T (p.Ser788Phe)
c.2348C>T (p.Ser783Phe)
c.1955C>T (p.Ser652Phe)
c.2417C>T (p.Ser806Phe)
c.2354C>T (p.Ser785Phe)
c.2351C>T (p.Ser784Phe)
c.2309C>T (p.Ser770Phe)
c.1382C>T (p.Ser461Phe)
 gnomAD v4
20g.63406897G>CCA409637478KCNQ2c.2420C>G (p.Ser807Cys)
c.2366C>G (p.Ser789Cys)
c.1763C>G (p.Ser588Cys)
c.2273C>G (p.Ser758Cys)
c.1934C>G (p.Ser645Cys)
c.2282C>G (p.Ser761Cys)
c.2241+149C>G (n.2241+149C>G)
c.2205+149C>G (n.2205+149C>G)
c.2312C>G (p.Ser771Cys)
c.2133+149C>G (n.2133+149C>G)
c.1680-6054C>G (n.1680-6054C>G)
c.2408C>G (p.Ser803Cys)
c.2474C>G (p.Ser825Cys)
c.2471C>G (p.Ser824Cys)
c.2444C>G (p.Ser815Cys)
c.2390C>G (p.Ser797Cys)
c.2363C>G (p.Ser788Cys)
c.2348C>G (p.Ser783Cys)
c.1955C>G (p.Ser652Cys)
c.2417C>G (p.Ser806Cys)
c.2354C>G (p.Ser785Cys)
c.2351C>G (p.Ser784Cys)
c.2309C>G (p.Ser770Cys)
c.1382C>G (p.Ser461Cys)
 gnomAD v4
20g.63406897G>TCA409637472KCNQ2c.2420C>A (p.Ser807Tyr)
c.2366C>A (p.Ser789Tyr)
c.1763C>A (p.Ser588Tyr)
c.2273C>A (p.Ser758Tyr)
c.1934C>A (p.Ser645Tyr)
c.2282C>A (p.Ser761Tyr)
c.2241+149C>A (n.2241+149C>A)
c.2205+149C>A (n.2205+149C>A)
c.2312C>A (p.Ser771Tyr)
c.2133+149C>A (n.2133+149C>A)
c.1680-6054C>A (n.1680-6054C>A)
c.2408C>A (p.Ser803Tyr)
c.2474C>A (p.Ser825Tyr)
c.2471C>A (p.Ser824Tyr)
c.2444C>A (p.Ser815Tyr)
c.2390C>A (p.Ser797Tyr)
c.2363C>A (p.Ser788Tyr)
c.2348C>A (p.Ser783Tyr)
c.1955C>A (p.Ser652Tyr)
c.2417C>A (p.Ser806Tyr)
c.2354C>A (p.Ser785Tyr)
c.2351C>A (p.Ser784Tyr)
c.2309C>A (p.Ser770Tyr)
c.1382C>A (p.Ser461Tyr)
20g.63406898A=CA2374774292KCNQ2c.2419T= (p.Ser807=)
c.2365T= (p.Ser789=)
c.1762T= (p.Ser588=)
c.2272T= (p.Ser758=)
c.1933T= (p.Ser645=)
c.2281T= (p.Ser761=)
c.2241+148T= (n.2241+148T=)
c.2205+148T= (n.2205+148T=)
c.2311T= (p.Ser771=)
c.2133+148T= (n.2133+148T=)
c.1680-6055T= (n.1680-6055T=)
c.2407T= (p.Ser803=)
c.2473T= (p.Ser825=)
c.2470T= (p.Ser824=)
c.2443T= (p.Ser815=)
c.2389T= (p.Ser797=)
c.2362T= (p.Ser788=)
c.2347T= (p.Ser783=)
c.1954T= (p.Ser652=)
c.2416T= (p.Ser806=)
c.2353T= (p.Ser785=)
c.2350T= (p.Ser784=)
c.2308T= (p.Ser770=)
c.1381T= (p.Ser461=)
20g.63406898A>CCA9958088KCNQ2c.2419T>G (p.Ser807Ala)
c.2365T>G (p.Ser789Ala)
c.1762T>G (p.Ser588Ala)
c.2272T>G (p.Ser758Ala)
c.1933T>G (p.Ser645Ala)
c.2281T>G (p.Ser761Ala)
c.2241+148T>G (n.2241+148T>G)
c.2205+148T>G (n.2205+148T>G)
c.2311T>G (p.Ser771Ala)
c.2133+148T>G (n.2133+148T>G)
c.1680-6055T>G (n.1680-6055T>G)
c.2407T>G (p.Ser803Ala)
c.2473T>G (p.Ser825Ala)
c.2470T>G (p.Ser824Ala)
c.2443T>G (p.Ser815Ala)
c.2389T>G (p.Ser797Ala)
c.2362T>G (p.Ser788Ala)
c.2347T>G (p.Ser783Ala)
c.1954T>G (p.Ser652Ala)
c.2416T>G (p.Ser806Ala)
c.2353T>G (p.Ser785Ala)
c.2350T>G (p.Ser784Ala)
c.2308T>G (p.Ser770Ala)
c.1381T>G (p.Ser461Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406898A>GCA409637483KCNQ2c.2419T>C (p.Ser807Pro)
c.2365T>C (p.Ser789Pro)
c.1762T>C (p.Ser588Pro)
c.2272T>C (p.Ser758Pro)
c.1933T>C (p.Ser645Pro)
c.2281T>C (p.Ser761Pro)
c.2241+148T>C (n.2241+148T>C)
c.2205+148T>C (n.2205+148T>C)
c.2311T>C (p.Ser771Pro)
c.2133+148T>C (n.2133+148T>C)
c.1680-6055T>C (n.1680-6055T>C)
c.2407T>C (p.Ser803Pro)
c.2473T>C (p.Ser825Pro)
c.2470T>C (p.Ser824Pro)
c.2443T>C (p.Ser815Pro)
c.2389T>C (p.Ser797Pro)
c.2362T>C (p.Ser788Pro)
c.2347T>C (p.Ser783Pro)
c.1954T>C (p.Ser652Pro)
c.2416T>C (p.Ser806Pro)
c.2353T>C (p.Ser785Pro)
c.2350T>C (p.Ser784Pro)
c.2308T>C (p.Ser770Pro)
c.1381T>C (p.Ser461Pro)
20g.63406898A>TCA409637486KCNQ2c.2419T>A (p.Ser807Thr)
c.2365T>A (p.Ser789Thr)
c.1762T>A (p.Ser588Thr)
c.2272T>A (p.Ser758Thr)
c.1933T>A (p.Ser645Thr)
c.2281T>A (p.Ser761Thr)
c.2241+148T>A (n.2241+148T>A)
c.2205+148T>A (n.2205+148T>A)
c.2311T>A (p.Ser771Thr)
c.2133+148T>A (n.2133+148T>A)
c.1680-6055T>A (n.1680-6055T>A)
c.2407T>A (p.Ser803Thr)
c.2473T>A (p.Ser825Thr)
c.2470T>A (p.Ser824Thr)
c.2443T>A (p.Ser815Thr)
c.2389T>A (p.Ser797Thr)
c.2362T>A (p.Ser788Thr)
c.2347T>A (p.Ser783Thr)
c.1954T>A (p.Ser652Thr)
c.2416T>A (p.Ser806Thr)
c.2353T>A (p.Ser785Thr)
c.2350T>A (p.Ser784Thr)
c.2308T>A (p.Ser770Thr)
c.1381T>A (p.Ser461Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63406899G>ACA511339257KCNQ2c.2418C>T (p.Ile806=)
c.2364C>T (p.Ile788=)
c.1761C>T (p.Ile587=)
c.2271C>T (p.Ile757=)
c.1932C>T (p.Ile644=)
c.2280C>T (p.Ile760=)
c.2241+147C>T (n.2241+147C>T)
c.2205+147C>T (n.2205+147C>T)
c.2310C>T (p.Ile770=)
c.2133+147C>T (n.2133+147C>T)
c.1680-6056C>T (n.1680-6056C>T)
c.2406C>T (p.Ile802=)
c.2472C>T (p.Ile824=)
c.2469C>T (p.Ile823=)
c.2442C>T (p.Ile814=)
c.2388C>T (p.Ile796=)
c.2361C>T (p.Ile787=)
c.2346C>T (p.Ile782=)
c.1953C>T (p.Ile651=)
c.2415C>T (p.Ile805=)
c.2352C>T (p.Ile784=)
c.2349C>T (p.Ile783=)
c.2307C>T (p.Ile769=)
c.1380C>T (p.Ile460=)
 dbSNP gnomAD v2
20g.63406899G>CCA409637489KCNQ2c.2418C>G (p.Ile806Met)
c.2364C>G (p.Ile788Met)
c.1761C>G (p.Ile587Met)
c.2271C>G (p.Ile757Met)
c.1932C>G (p.Ile644Met)
c.2280C>G (p.Ile760Met)
c.2241+147C>G (n.2241+147C>G)
c.2205+147C>G (n.2205+147C>G)
c.2310C>G (p.Ile770Met)
c.2133+147C>G (n.2133+147C>G)
c.1680-6056C>G (n.1680-6056C>G)
c.2406C>G (p.Ile802Met)
c.2472C>G (p.Ile824Met)
c.2469C>G (p.Ile823Met)
c.2442C>G (p.Ile814Met)
c.2388C>G (p.Ile796Met)
c.2361C>G (p.Ile787Met)
c.2346C>G (p.Ile782Met)
c.1953C>G (p.Ile651Met)
c.2415C>G (p.Ile805Met)
c.2352C>G (p.Ile784Met)
c.2349C>G (p.Ile783Met)
c.2307C>G (p.Ile769Met)
c.1380C>G (p.Ile460Met)
20g.63406899G=CA2374774293KCNQ2c.2418C= (p.Ile806=)
c.2364C= (p.Ile788=)
c.1761C= (p.Ile587=)
c.2271C= (p.Ile757=)
c.1932C= (p.Ile644=)
c.2280C= (p.Ile760=)
c.2241+147C= (n.2241+147C=)
c.2205+147C= (n.2205+147C=)
c.2310C= (p.Ile770=)
c.2133+147C= (n.2133+147C=)
c.1680-6056C= (n.1680-6056C=)
c.2406C= (p.Ile802=)
c.2472C= (p.Ile824=)
c.2469C= (p.Ile823=)
c.2442C= (p.Ile814=)
c.2388C= (p.Ile796=)
c.2361C= (p.Ile787=)
c.2346C= (p.Ile782=)
c.1953C= (p.Ile651=)
c.2415C= (p.Ile805=)
c.2352C= (p.Ile784=)
c.2349C= (p.Ile783=)
c.2307C= (p.Ile769=)
c.1380C= (p.Ile460=)
20g.63406899G>TCA511339255KCNQ2c.2418C>A (p.Ile806=)
c.2364C>A (p.Ile788=)
c.1761C>A (p.Ile587=)
c.2271C>A (p.Ile757=)
c.1932C>A (p.Ile644=)
c.2280C>A (p.Ile760=)
c.2241+147C>A (n.2241+147C>A)
c.2205+147C>A (n.2205+147C>A)
c.2310C>A (p.Ile770=)
c.2133+147C>A (n.2133+147C>A)
c.1680-6056C>A (n.1680-6056C>A)
c.2406C>A (p.Ile802=)
c.2472C>A (p.Ile824=)
c.2469C>A (p.Ile823=)
c.2442C>A (p.Ile814=)
c.2388C>A (p.Ile796=)
c.2361C>A (p.Ile787=)
c.2346C>A (p.Ile782=)
c.1953C>A (p.Ile651=)
c.2415C>A (p.Ile805=)
c.2352C>A (p.Ile784=)
c.2349C>A (p.Ile783=)
c.2307C>A (p.Ile769=)
c.1380C>A (p.Ile460=)
 gnomAD v4
20g.63406901_63406904delCA2580098403KCNQ2c.2415_2418del (p.Ile806ProfsTer?)
c.2361_2364del (p.Ile788ProfsTer?)
c.1758_1761del (p.Ile587ProfsTer?)
c.2268_2271del (p.Ile757ProfsTer?)
c.1929_1932del (p.Ile644ProfsTer?)
c.2277_2280del (p.Ile760ProfsTer?)
c.2241+144_2241+147del (n.2241+144_2241+147del)
c.2205+144_2205+147del (n.2205+144_2205+147del)
c.2307_2310del (p.Ile770ProfsTer?)
c.2133+144_2133+147del (n.2133+144_2133+147del)
c.1680-6059_1680-6056del (n.1680-6059_1680-6056del)
c.2403_2406del (p.Ile802ProfsTer?)
c.2469_2472del (p.Ile824ProfsTer?)
c.2466_2469del (p.Ile823ProfsTer?)
c.2439_2442del (p.Ile814ProfsTer?)
c.2385_2388del (p.Ile796ProfsTer?)
c.2358_2361del (p.Ile787ProfsTer?)
c.2343_2346del (p.Ile782ProfsTer?)
c.1950_1953del (p.Ile651ProfsTer?)
c.2412_2415del (p.Ile805ProfsTer?)
c.2349_2352del (p.Ile784ProfsTer?)
c.2346_2349del (p.Ile783ProfsTer?)
c.2304_2307del (p.Ile769ProfsTer?)
c.1377_1380del (p.Ile460ProfsTer?)
 ClinVar
20g.63406900A>CCA409637493KCNQ2c.2417T>G (p.Ile806Ser)
c.2363T>G (p.Ile788Ser)
c.1760T>G (p.Ile587Ser)
c.2270T>G (p.Ile757Ser)
c.1931T>G (p.Ile644Ser)
c.2279T>G (p.Ile760Ser)
c.2241+146T>G (n.2241+146T>G)
c.2205+146T>G (n.2205+146T>G)
c.2309T>G (p.Ile770Ser)
c.2133+146T>G (n.2133+146T>G)
c.1680-6057T>G (n.1680-6057T>G)
c.2405T>G (p.Ile802Ser)
c.2471T>G (p.Ile824Ser)
c.2468T>G (p.Ile823Ser)
c.2441T>G (p.Ile814Ser)
c.2387T>G (p.Ile796Ser)
c.2360T>G (p.Ile787Ser)
c.2345T>G (p.Ile782Ser)
c.1952T>G (p.Ile651Ser)
c.2414T>G (p.Ile805Ser)
c.2351T>G (p.Ile784Ser)
c.2348T>G (p.Ile783Ser)
c.2306T>G (p.Ile769Ser)
c.1379T>G (p.Ile460Ser)
20g.63406900A>GCA409637496KCNQ2c.2417T>C (p.Ile806Thr)
c.2363T>C (p.Ile788Thr)
c.1760T>C (p.Ile587Thr)
c.2270T>C (p.Ile757Thr)
c.1931T>C (p.Ile644Thr)
c.2279T>C (p.Ile760Thr)
c.2241+146T>C (n.2241+146T>C)
c.2205+146T>C (n.2205+146T>C)
c.2309T>C (p.Ile770Thr)
c.2133+146T>C (n.2133+146T>C)
c.1680-6057T>C (n.1680-6057T>C)
c.2405T>C (p.Ile802Thr)
c.2471T>C (p.Ile824Thr)
c.2468T>C (p.Ile823Thr)
c.2441T>C (p.Ile814Thr)
c.2387T>C (p.Ile796Thr)
c.2360T>C (p.Ile787Thr)
c.2345T>C (p.Ile782Thr)
c.1952T>C (p.Ile651Thr)
c.2414T>C (p.Ile805Thr)
c.2351T>C (p.Ile784Thr)
c.2348T>C (p.Ile783Thr)
c.2306T>C (p.Ile769Thr)
c.1379T>C (p.Ile460Thr)
 ClinVar dbSNP gnomAD v4
20g.63406900A>TCA409637499KCNQ2c.2417T>A (p.Ile806Asn)
c.2363T>A (p.Ile788Asn)
c.1760T>A (p.Ile587Asn)
c.2270T>A (p.Ile757Asn)
c.1931T>A (p.Ile644Asn)
c.2279T>A (p.Ile760Asn)
c.2241+146T>A (n.2241+146T>A)
c.2205+146T>A (n.2205+146T>A)
c.2309T>A (p.Ile770Asn)
c.2133+146T>A (n.2133+146T>A)
c.1680-6057T>A (n.1680-6057T>A)
c.2405T>A (p.Ile802Asn)
c.2471T>A (p.Ile824Asn)
c.2468T>A (p.Ile823Asn)
c.2441T>A (p.Ile814Asn)
c.2387T>A (p.Ile796Asn)
c.2360T>A (p.Ile787Asn)
c.2345T>A (p.Ile782Asn)
c.1952T>A (p.Ile651Asn)
c.2414T>A (p.Ile805Asn)
c.2351T>A (p.Ile784Asn)
c.2348T>A (p.Ile783Asn)
c.2306T>A (p.Ile769Asn)
c.1379T>A (p.Ile460Asn)
20g.63406901T>ACA409637503KCNQ2c.2416A>T (p.Ile806Phe)
c.2362A>T (p.Ile788Phe)
c.1759A>T (p.Ile587Phe)
c.2269A>T (p.Ile757Phe)
c.1930A>T (p.Ile644Phe)
c.2278A>T (p.Ile760Phe)
c.2241+145A>T (n.2241+145A>T)
c.2205+145A>T (n.2205+145A>T)
c.2308A>T (p.Ile770Phe)
c.2133+145A>T (n.2133+145A>T)
c.1680-6058A>T (n.1680-6058A>T)
c.2404A>T (p.Ile802Phe)
c.2470A>T (p.Ile824Phe)
c.2467A>T (p.Ile823Phe)
c.2440A>T (p.Ile814Phe)
c.2386A>T (p.Ile796Phe)
c.2359A>T (p.Ile787Phe)
c.2344A>T (p.Ile782Phe)
c.1951A>T (p.Ile651Phe)
c.2413A>T (p.Ile805Phe)
c.2350A>T (p.Ile784Phe)
c.2347A>T (p.Ile783Phe)
c.2305A>T (p.Ile769Phe)
c.1378A>T (p.Ile460Phe)
20g.63406901T>CCA409637506KCNQ2c.2416A>G (p.Ile806Val)
c.2362A>G (p.Ile788Val)
c.1759A>G (p.Ile587Val)
c.2269A>G (p.Ile757Val)
c.1930A>G (p.Ile644Val)
c.2278A>G (p.Ile760Val)
c.2241+145A>G (n.2241+145A>G)
c.2205+145A>G (n.2205+145A>G)
c.2308A>G (p.Ile770Val)
c.2133+145A>G (n.2133+145A>G)
c.1680-6058A>G (n.1680-6058A>G)
c.2404A>G (p.Ile802Val)
c.2470A>G (p.Ile824Val)
c.2467A>G (p.Ile823Val)
c.2440A>G (p.Ile814Val)
c.2386A>G (p.Ile796Val)
c.2359A>G (p.Ile787Val)
c.2344A>G (p.Ile782Val)
c.1951A>G (p.Ile651Val)
c.2413A>G (p.Ile805Val)
c.2350A>G (p.Ile784Val)
c.2347A>G (p.Ile783Val)
c.2305A>G (p.Ile769Val)
c.1378A>G (p.Ile460Val)
 dbSNP gnomAD v4
20g.63406901T>GCA409637508KCNQ2c.2416A>C (p.Ile806Leu)
c.2362A>C (p.Ile788Leu)
c.1759A>C (p.Ile587Leu)
c.2269A>C (p.Ile757Leu)
c.1930A>C (p.Ile644Leu)
c.2278A>C (p.Ile760Leu)
c.2241+145A>C (n.2241+145A>C)
c.2205+145A>C (n.2205+145A>C)
c.2308A>C (p.Ile770Leu)
c.2133+145A>C (n.2133+145A>C)
c.1680-6058A>C (n.1680-6058A>C)
c.2404A>C (p.Ile802Leu)
c.2470A>C (p.Ile824Leu)
c.2467A>C (p.Ile823Leu)
c.2440A>C (p.Ile814Leu)
c.2386A>C (p.Ile796Leu)
c.2359A>C (p.Ile787Leu)
c.2344A>C (p.Ile782Leu)
c.1951A>C (p.Ile651Leu)
c.2413A>C (p.Ile805Leu)
c.2350A>C (p.Ile784Leu)
c.2347A>C (p.Ile783Leu)
c.2305A>C (p.Ile769Leu)
c.1378A>C (p.Ile460Leu)
20g.63406901T=CA2374774294KCNQ2c.2416A= (p.Ile806=)
c.2362A= (p.Ile788=)
c.1759A= (p.Ile587=)
c.2269A= (p.Ile757=)
c.1930A= (p.Ile644=)
c.2278A= (p.Ile760=)
c.2241+145A= (n.2241+145A=)
c.2205+145A= (n.2205+145A=)
c.2308A= (p.Ile770=)
c.2133+145A= (n.2133+145A=)
c.1680-6058A= (n.1680-6058A=)
c.2404A= (p.Ile802=)
c.2470A= (p.Ile824=)
c.2467A= (p.Ile823=)
c.2440A= (p.Ile814=)
c.2386A= (p.Ile796=)
c.2359A= (p.Ile787=)
c.2344A= (p.Ile782=)
c.1951A= (p.Ile651=)
c.2413A= (p.Ile805=)
c.2350A= (p.Ile784=)
c.2347A= (p.Ile783=)
c.2305A= (p.Ile769=)
c.1378A= (p.Ile460=)
20g.63406902G>ACA511339258KCNQ2c.2415C>T (p.Ser805=)
c.2361C>T (p.Ser787=)
c.1758C>T (p.Ser586=)
c.2268C>T (p.Ser756=)
c.1929C>T (p.Ser643=)
c.2277C>T (p.Ser759=)
c.2241+144C>T (n.2241+144C>T)
c.2205+144C>T (n.2205+144C>T)
c.2307C>T (p.Ser769=)
c.2133+144C>T (n.2133+144C>T)
c.1680-6059C>T (n.1680-6059C>T)
c.2403C>T (p.Ser801=)
c.2469C>T (p.Ser823=)
c.2466C>T (p.Ser822=)
c.2439C>T (p.Ser813=)
c.2385C>T (p.Ser795=)
c.2358C>T (p.Ser786=)
c.2343C>T (p.Ser781=)
c.1950C>T (p.Ser650=)
c.2412C>T (p.Ser804=)
c.2349C>T (p.Ser783=)
c.2346C>T (p.Ser782=)
c.2304C>T (p.Ser768=)
c.1377C>T (p.Ser459=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63406902G>CCA511339259KCNQ2c.2415C>G (p.Ser805=)
c.2361C>G (p.Ser787=)
c.1758C>G (p.Ser586=)
c.2268C>G (p.Ser756=)
c.1929C>G (p.Ser643=)
c.2277C>G (p.Ser759=)
c.2241+144C>G (n.2241+144C>G)
c.2205+144C>G (n.2205+144C>G)
c.2307C>G (p.Ser769=)
c.2133+144C>G (n.2133+144C>G)
c.1680-6059C>G (n.1680-6059C>G)
c.2403C>G (p.Ser801=)
c.2469C>G (p.Ser823=)
c.2466C>G (p.Ser822=)
c.2439C>G (p.Ser813=)
c.2385C>G (p.Ser795=)
c.2358C>G (p.Ser786=)
c.2343C>G (p.Ser781=)
c.1950C>G (p.Ser650=)
c.2412C>G (p.Ser804=)
c.2349C>G (p.Ser783=)
c.2346C>G (p.Ser782=)
c.2304C>G (p.Ser768=)
c.1377C>G (p.Ser459=)
20g.63406902G=CA2374774295KCNQ2c.2415C= (p.Ser805=)
c.2361C= (p.Ser787=)
c.1758C= (p.Ser586=)
c.2268C= (p.Ser756=)
c.1929C= (p.Ser643=)
c.2277C= (p.Ser759=)
c.2241+144C= (n.2241+144C=)
c.2205+144C= (n.2205+144C=)
c.2307C= (p.Ser769=)
c.2133+144C= (n.2133+144C=)
c.1680-6059C= (n.1680-6059C=)
c.2403C= (p.Ser801=)
c.2469C= (p.Ser823=)
c.2466C= (p.Ser822=)
c.2439C= (p.Ser813=)
c.2385C= (p.Ser795=)
c.2358C= (p.Ser786=)
c.2343C= (p.Ser781=)
c.1950C= (p.Ser650=)
c.2412C= (p.Ser804=)
c.2349C= (p.Ser783=)
c.2346C= (p.Ser782=)
c.2304C= (p.Ser768=)
c.1377C= (p.Ser459=)
20g.63406902G>TCA511339260KCNQ2c.2415C>A (p.Ser805=)
c.2361C>A (p.Ser787=)
c.1758C>A (p.Ser586=)
c.2268C>A (p.Ser756=)
c.1929C>A (p.Ser643=)
c.2277C>A (p.Ser759=)
c.2241+144C>A (n.2241+144C>A)
c.2205+144C>A (n.2205+144C>A)
c.2307C>A (p.Ser769=)
c.2133+144C>A (n.2133+144C>A)
c.1680-6059C>A (n.1680-6059C>A)
c.2403C>A (p.Ser801=)
c.2469C>A (p.Ser823=)
c.2466C>A (p.Ser822=)
c.2439C>A (p.Ser813=)
c.2385C>A (p.Ser795=)
c.2358C>A (p.Ser786=)
c.2343C>A (p.Ser781=)
c.1950C>A (p.Ser650=)
c.2412C>A (p.Ser804=)
c.2349C>A (p.Ser783=)
c.2346C>A (p.Ser782=)
c.2304C>A (p.Ser768=)
c.1377C>A (p.Ser459=)
20g.63406903dupCA915952956KCNQ2c.2415dup (p.Ile806HisfsTer?)
c.2361dup (p.Ile788HisfsTer?)
c.1758dup (p.Ile587HisfsTer?)
c.2268dup (p.Ile757HisfsTer?)
c.1929dup (p.Ile644HisfsTer?)
c.2277dup (p.Ile760HisfsTer?)
c.2241+144dup (n.2241+144dup)
c.2205+144dup (n.2205+144dup)
c.2307dup (p.Ile770HisfsTer?)
c.2133+144dup (n.2133+144dup)
c.1680-6059dup (n.1680-6059dup)
c.2403dup (p.Ile802HisfsTer?)
c.2469dup (p.Ile824HisfsTer?)
c.2466dup (p.Ile823HisfsTer?)
c.2439dup (p.Ile814HisfsTer?)
c.2385dup (p.Ile796HisfsTer?)
c.2358dup (p.Ile787HisfsTer?)
c.2343dup (p.Ile782HisfsTer?)
c.1950dup (p.Ile651HisfsTer?)
c.2412dup (p.Ile805HisfsTer?)
c.2349dup (p.Ile784HisfsTer?)
c.2346dup (p.Ile783HisfsTer?)
c.2304dup (p.Ile769HisfsTer?)
c.1377dup (p.Ile460HisfsTer?)
 ClinVar dbSNP
20g.63406903G>ACA409637513KCNQ2c.2414C>T (p.Ser805Phe)
c.2360C>T (p.Ser787Phe)
c.1757C>T (p.Ser586Phe)
c.2267C>T (p.Ser756Phe)
c.1928C>T (p.Ser643Phe)
c.2276C>T (p.Ser759Phe)
c.2241+143C>T (n.2241+143C>T)
c.2205+143C>T (n.2205+143C>T)
c.2306C>T (p.Ser769Phe)
c.2133+143C>T (n.2133+143C>T)
c.1680-6060C>T (n.1680-6060C>T)
c.2402C>T (p.Ser801Phe)
c.2468C>T (p.Ser823Phe)
c.2465C>T (p.Ser822Phe)
c.2438C>T (p.Ser813Phe)
c.2384C>T (p.Ser795Phe)
c.2357C>T (p.Ser786Phe)
c.2342C>T (p.Ser781Phe)
c.1949C>T (p.Ser650Phe)
c.2411C>T (p.Ser804Phe)
c.2348C>T (p.Ser783Phe)
c.2345C>T (p.Ser782Phe)
c.2303C>T (p.Ser768Phe)
c.1376C>T (p.Ser459Phe)
 gnomAD v4
20g.63406903G>CCA409637515KCNQ2c.2414C>G (p.Ser805Cys)
c.2360C>G (p.Ser787Cys)
c.1757C>G (p.Ser586Cys)
c.2267C>G (p.Ser756Cys)
c.1928C>G (p.Ser643Cys)
c.2276C>G (p.Ser759Cys)
c.2241+143C>G (n.2241+143C>G)
c.2205+143C>G (n.2205+143C>G)
c.2306C>G (p.Ser769Cys)
c.2133+143C>G (n.2133+143C>G)
c.1680-6060C>G (n.1680-6060C>G)
c.2402C>G (p.Ser801Cys)
c.2468C>G (p.Ser823Cys)
c.2465C>G (p.Ser822Cys)
c.2438C>G (p.Ser813Cys)
c.2384C>G (p.Ser795Cys)
c.2357C>G (p.Ser786Cys)
c.2342C>G (p.Ser781Cys)
c.1949C>G (p.Ser650Cys)
c.2411C>G (p.Ser804Cys)
c.2348C>G (p.Ser783Cys)
c.2345C>G (p.Ser782Cys)
c.2303C>G (p.Ser768Cys)
c.1376C>G (p.Ser459Cys)
20g.63406903G>TCA409637517KCNQ2c.2414C>A (p.Ser805Tyr)
c.2360C>A (p.Ser787Tyr)
c.1757C>A (p.Ser586Tyr)
c.2267C>A (p.Ser756Tyr)
c.1928C>A (p.Ser643Tyr)
c.2276C>A (p.Ser759Tyr)
c.2241+143C>A (n.2241+143C>A)
c.2205+143C>A (n.2205+143C>A)
c.2306C>A (p.Ser769Tyr)
c.2133+143C>A (n.2133+143C>A)
c.1680-6060C>A (n.1680-6060C>A)
c.2402C>A (p.Ser801Tyr)
c.2468C>A (p.Ser823Tyr)
c.2465C>A (p.Ser822Tyr)
c.2438C>A (p.Ser813Tyr)
c.2384C>A (p.Ser795Tyr)
c.2357C>A (p.Ser786Tyr)
c.2342C>A (p.Ser781Tyr)
c.1949C>A (p.Ser650Tyr)
c.2411C>A (p.Ser804Tyr)
c.2348C>A (p.Ser783Tyr)
c.2345C>A (p.Ser782Tyr)
c.2303C>A (p.Ser768Tyr)
c.1376C>A (p.Ser459Tyr)
20g.63406904A>CCA409637525KCNQ2c.2413T>G (p.Ser805Ala)
c.2359T>G (p.Ser787Ala)
c.1756T>G (p.Ser586Ala)
c.2266T>G (p.Ser756Ala)
c.1927T>G (p.Ser643Ala)
c.2275T>G (p.Ser759Ala)
c.2241+142T>G (n.2241+142T>G)
c.2205+142T>G (n.2205+142T>G)
c.2305T>G (p.Ser769Ala)
c.2133+142T>G (n.2133+142T>G)
c.1680-6061T>G (n.1680-6061T>G)
c.2401T>G (p.Ser801Ala)
c.2467T>G (p.Ser823Ala)
c.2464T>G (p.Ser822Ala)
c.2437T>G (p.Ser813Ala)
c.2383T>G (p.Ser795Ala)
c.2356T>G (p.Ser786Ala)
c.2341T>G (p.Ser781Ala)
c.1948T>G (p.Ser650Ala)
c.2410T>G (p.Ser804Ala)
c.2347T>G (p.Ser783Ala)
c.2344T>G (p.Ser782Ala)
c.2302T>G (p.Ser768Ala)
c.1375T>G (p.Ser459Ala)
20g.63406904A>GCA409637523KCNQ2c.2413T>C (p.Ser805Pro)
c.2359T>C (p.Ser787Pro)
c.1756T>C (p.Ser586Pro)
c.2266T>C (p.Ser756Pro)
c.1927T>C (p.Ser643Pro)
c.2275T>C (p.Ser759Pro)
c.2241+142T>C (n.2241+142T>C)
c.2205+142T>C (n.2205+142T>C)
c.2305T>C (p.Ser769Pro)
c.2133+142T>C (n.2133+142T>C)
c.1680-6061T>C (n.1680-6061T>C)
c.2401T>C (p.Ser801Pro)
c.2467T>C (p.Ser823Pro)
c.2464T>C (p.Ser822Pro)
c.2437T>C (p.Ser813Pro)
c.2383T>C (p.Ser795Pro)
c.2356T>C (p.Ser786Pro)
c.2341T>C (p.Ser781Pro)
c.1948T>C (p.Ser650Pro)
c.2410T>C (p.Ser804Pro)
c.2347T>C (p.Ser783Pro)
c.2344T>C (p.Ser782Pro)
c.2302T>C (p.Ser768Pro)
c.1375T>C (p.Ser459Pro)
20g.63406904A>TCA409637520KCNQ2c.2413T>A (p.Ser805Thr)
c.2359T>A (p.Ser787Thr)
c.1756T>A (p.Ser586Thr)
c.2266T>A (p.Ser756Thr)
c.1927T>A (p.Ser643Thr)
c.2275T>A (p.Ser759Thr)
c.2241+142T>A (n.2241+142T>A)
c.2205+142T>A (n.2205+142T>A)
c.2305T>A (p.Ser769Thr)
c.2133+142T>A (n.2133+142T>A)
c.1680-6061T>A (n.1680-6061T>A)
c.2401T>A (p.Ser801Thr)
c.2467T>A (p.Ser823Thr)
c.2464T>A (p.Ser822Thr)
c.2437T>A (p.Ser813Thr)
c.2383T>A (p.Ser795Thr)
c.2356T>A (p.Ser786Thr)
c.2341T>A (p.Ser781Thr)
c.1948T>A (p.Ser650Thr)
c.2410T>A (p.Ser804Thr)
c.2347T>A (p.Ser783Thr)
c.2344T>A (p.Ser782Thr)
c.2302T>A (p.Ser768Thr)
c.1375T>A (p.Ser459Thr)
20g.63406905C>ACA511339262KCNQ2c.2412G>T (p.Thr804=)
c.2358G>T (p.Thr786=)
c.1755G>T (p.Thr585=)
c.2265G>T (p.Thr755=)
c.1926G>T (p.Thr642=)
c.2274G>T (p.Thr758=)
c.2241+141G>T (n.2241+141G>T)
c.2205+141G>T (n.2205+141G>T)
c.2304G>T (p.Thr768=)
c.2133+141G>T (n.2133+141G>T)
c.1680-6062G>T (n.1680-6062G>T)
c.2400G>T (p.Thr800=)
c.2466G>T (p.Thr822=)
c.2463G>T (p.Thr821=)
c.2436G>T (p.Thr812=)
c.2382G>T (p.Thr794=)
c.2355G>T (p.Thr785=)
c.2340G>T (p.Thr780=)
c.1947G>T (p.Thr649=)
c.2409G>T (p.Thr803=)
c.2346G>T (p.Thr782=)
c.2343G>T (p.Thr781=)
c.2301G>T (p.Thr767=)
c.1374G>T (p.Thr458=)
 gnomAD v4
20g.63406905C=CA2374774296KCNQ2c.2412G= (p.Thr804=)
c.2358G= (p.Thr786=)
c.1755G= (p.Thr585=)
c.2265G= (p.Thr755=)
c.1926G= (p.Thr642=)
c.2274G= (p.Thr758=)
c.2241+141G= (n.2241+141G=)
c.2205+141G= (n.2205+141G=)
c.2304G= (p.Thr768=)
c.2133+141G= (n.2133+141G=)
c.1680-6062G= (n.1680-6062G=)
c.2400G= (p.Thr800=)
c.2466G= (p.Thr822=)
c.2463G= (p.Thr821=)
c.2436G= (p.Thr812=)
c.2382G= (p.Thr794=)
c.2355G= (p.Thr785=)
c.2340G= (p.Thr780=)
c.1947G= (p.Thr649=)
c.2409G= (p.Thr803=)
c.2346G= (p.Thr782=)
c.2343G= (p.Thr781=)
c.2301G= (p.Thr767=)
c.1374G= (p.Thr458=)
20g.63406905C>GCA511339263KCNQ2c.2412G>C (p.Thr804=)
c.2358G>C (p.Thr786=)
c.1755G>C (p.Thr585=)
c.2265G>C (p.Thr755=)
c.1926G>C (p.Thr642=)
c.2274G>C (p.Thr758=)
c.2241+141G>C (n.2241+141G>C)
c.2205+141G>C (n.2205+141G>C)
c.2304G>C (p.Thr768=)
c.2133+141G>C (n.2133+141G>C)
c.1680-6062G>C (n.1680-6062G>C)
c.2400G>C (p.Thr800=)
c.2466G>C (p.Thr822=)
c.2463G>C (p.Thr821=)
c.2436G>C (p.Thr812=)
c.2382G>C (p.Thr794=)
c.2355G>C (p.Thr785=)
c.2340G>C (p.Thr780=)
c.1947G>C (p.Thr649=)
c.2409G>C (p.Thr803=)
c.2346G>C (p.Thr782=)
c.2343G>C (p.Thr781=)
c.2301G>C (p.Thr767=)
c.1374G>C (p.Thr458=)
20g.63406905C>TCA240972KCNQ2c.2412G>A (p.Thr804=)
c.2358G>A (p.Thr786=)
c.1755G>A (p.Thr585=)
c.2265G>A (p.Thr755=)
c.1926G>A (p.Thr642=)
c.2274G>A (p.Thr758=)
c.2241+141G>A (n.2241+141G>A)
c.2205+141G>A (n.2205+141G>A)
c.2304G>A (p.Thr768=)
c.2133+141G>A (n.2133+141G>A)
c.1680-6062G>A (n.1680-6062G>A)
c.2400G>A (p.Thr800=)
c.2466G>A (p.Thr822=)
c.2463G>A (p.Thr821=)
c.2436G>A (p.Thr812=)
c.2382G>A (p.Thr794=)
c.2355G>A (p.Thr785=)
c.2340G>A (p.Thr780=)
c.1947G>A (p.Thr649=)
c.2409G>A (p.Thr803=)
c.2346G>A (p.Thr782=)
c.2343G>A (p.Thr781=)
c.2301G>A (p.Thr767=)
c.1374G>A (p.Thr458=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63406906G>ACA9958089KCNQ2c.2411C>T (p.Thr804Met)
c.2357C>T (p.Thr786Met)
c.1754C>T (p.Thr585Met)
c.2264C>T (p.Thr755Met)
c.1925C>T (p.Thr642Met)
c.2273C>T (p.Thr758Met)
c.2241+140C>T (n.2241+140C>T)
c.2205+140C>T (n.2205+140C>T)
c.2303C>T (p.Thr768Met)
c.2133+140C>T (n.2133+140C>T)
c.1680-6063C>T (n.1680-6063C>T)
c.2399C>T (p.Thr800Met)
c.2465C>T (p.Thr822Met)
c.2462C>T (p.Thr821Met)
c.2435C>T (p.Thr812Met)
c.2381C>T (p.Thr794Met)
c.2354C>T (p.Thr785Met)
c.2339C>T (p.Thr780Met)
c.1946C>T (p.Thr649Met)
c.2408C>T (p.Thr803Met)
c.2345C>T (p.Thr782Met)
c.2342C>T (p.Thr781Met)
c.2300C>T (p.Thr767Met)
c.1373C>T (p.Thr458Met)
 ClinVar dbSNP ExAC gnomAD v4
20g.63406906G>CCA409637541KCNQ2c.2411C>G (p.Thr804Arg)
c.2357C>G (p.Thr786Arg)
c.1754C>G (p.Thr585Arg)
c.2264C>G (p.Thr755Arg)
c.1925C>G (p.Thr642Arg)
c.2273C>G (p.Thr758Arg)
c.2241+140C>G (n.2241+140C>G)
c.2205+140C>G (n.2205+140C>G)
c.2303C>G (p.Thr768Arg)
c.2133+140C>G (n.2133+140C>G)
c.1680-6063C>G (n.1680-6063C>G)
c.2399C>G (p.Thr800Arg)
c.2465C>G (p.Thr822Arg)
c.2462C>G (p.Thr821Arg)
c.2435C>G (p.Thr812Arg)
c.2381C>G (p.Thr794Arg)
c.2354C>G (p.Thr785Arg)
c.2339C>G (p.Thr780Arg)
c.1946C>G (p.Thr649Arg)
c.2408C>G (p.Thr803Arg)
c.2345C>G (p.Thr782Arg)
c.2342C>G (p.Thr781Arg)
c.2300C>G (p.Thr767Arg)
c.1373C>G (p.Thr458Arg)
 gnomAD v4
20g.63406906G=CA2374774297KCNQ2c.2411C= (p.Thr804=)
c.2357C= (p.Thr786=)
c.1754C= (p.Thr585=)
c.2264C= (p.Thr755=)
c.1925C= (p.Thr642=)
c.2273C= (p.Thr758=)
c.2241+140C= (n.2241+140C=)
c.2205+140C= (n.2205+140C=)
c.2303C= (p.Thr768=)
c.2133+140C= (n.2133+140C=)
c.1680-6063C= (n.1680-6063C=)
c.2399C= (p.Thr800=)
c.2465C= (p.Thr822=)
c.2462C= (p.Thr821=)
c.2435C= (p.Thr812=)
c.2381C= (p.Thr794=)
c.2354C= (p.Thr785=)
c.2339C= (p.Thr780=)
c.1946C= (p.Thr649=)
c.2408C= (p.Thr803=)
c.2345C= (p.Thr782=)
c.2342C= (p.Thr781=)
c.2300C= (p.Thr767=)
c.1373C= (p.Thr458=)
20g.63406906G>TCA409637544KCNQ2c.2411C>A (p.Thr804Lys)
c.2357C>A (p.Thr786Lys)
c.1754C>A (p.Thr585Lys)
c.2264C>A (p.Thr755Lys)
c.1925C>A (p.Thr642Lys)
c.2273C>A (p.Thr758Lys)
c.2241+140C>A (n.2241+140C>A)
c.2205+140C>A (n.2205+140C>A)
c.2303C>A (p.Thr768Lys)
c.2133+140C>A (n.2133+140C>A)
c.1680-6063C>A (n.1680-6063C>A)
c.2399C>A (p.Thr800Lys)
c.2465C>A (p.Thr822Lys)
c.2462C>A (p.Thr821Lys)
c.2435C>A (p.Thr812Lys)
c.2381C>A (p.Thr794Lys)
c.2354C>A (p.Thr785Lys)
c.2339C>A (p.Thr780Lys)
c.1946C>A (p.Thr649Lys)
c.2408C>A (p.Thr803Lys)
c.2345C>A (p.Thr782Lys)
c.2342C>A (p.Thr781Lys)
c.2300C>A (p.Thr767Lys)
c.1373C>A (p.Thr458Lys)
 gnomAD v4
20g.63406907T>ACA409637547KCNQ2c.2410A>T (p.Thr804Ser)
c.2356A>T (p.Thr786Ser)
c.1753A>T (p.Thr585Ser)
c.2263A>T (p.Thr755Ser)
c.1924A>T (p.Thr642Ser)
c.2272A>T (p.Thr758Ser)
c.2241+139A>T (n.2241+139A>T)
c.2205+139A>T (n.2205+139A>T)
c.2302A>T (p.Thr768Ser)
c.2133+139A>T (n.2133+139A>T)
c.1680-6064A>T (n.1680-6064A>T)
c.2398A>T (p.Thr800Ser)
c.2464A>T (p.Thr822Ser)
c.2461A>T (p.Thr821Ser)
c.2434A>T (p.Thr812Ser)
c.2380A>T (p.Thr794Ser)
c.2353A>T (p.Thr785Ser)
c.2338A>T (p.Thr780Ser)
c.1945A>T (p.Thr649Ser)
c.2407A>T (p.Thr803Ser)
c.2344A>T (p.Thr782Ser)
c.2341A>T (p.Thr781Ser)
c.2299A>T (p.Thr767Ser)
c.1372A>T (p.Thr458Ser)
20g.63406907T>CCA409637549KCNQ2c.2410A>G (p.Thr804Ala)
c.2356A>G (p.Thr786Ala)
c.1753A>G (p.Thr585Ala)
c.2263A>G (p.Thr755Ala)
c.1924A>G (p.Thr642Ala)
c.2272A>G (p.Thr758Ala)
c.2241+139A>G (n.2241+139A>G)
c.2205+139A>G (n.2205+139A>G)
c.2302A>G (p.Thr768Ala)
c.2133+139A>G (n.2133+139A>G)
c.1680-6064A>G (n.1680-6064A>G)
c.2398A>G (p.Thr800Ala)
c.2464A>G (p.Thr822Ala)
c.2461A>G (p.Thr821Ala)
c.2434A>G (p.Thr812Ala)
c.2380A>G (p.Thr794Ala)
c.2353A>G (p.Thr785Ala)
c.2338A>G (p.Thr780Ala)
c.1945A>G (p.Thr649Ala)
c.2407A>G (p.Thr803Ala)
c.2344A>G (p.Thr782Ala)
c.2341A>G (p.Thr781Ala)
c.2299A>G (p.Thr767Ala)
c.1372A>G (p.Thr458Ala)
20g.63406907T>GCA409637553KCNQ2c.2410A>C (p.Thr804Pro)
c.2356A>C (p.Thr786Pro)
c.1753A>C (p.Thr585Pro)
c.2263A>C (p.Thr755Pro)
c.1924A>C (p.Thr642Pro)
c.2272A>C (p.Thr758Pro)
c.2241+139A>C (n.2241+139A>C)
c.2205+139A>C (n.2205+139A>C)
c.2302A>C (p.Thr768Pro)
c.2133+139A>C (n.2133+139A>C)
c.1680-6064A>C (n.1680-6064A>C)
c.2398A>C (p.Thr800Pro)
c.2464A>C (p.Thr822Pro)
c.2461A>C (p.Thr821Pro)
c.2434A>C (p.Thr812Pro)
c.2380A>C (p.Thr794Pro)
c.2353A>C (p.Thr785Pro)
c.2338A>C (p.Thr780Pro)
c.1945A>C (p.Thr649Pro)
c.2407A>C (p.Thr803Pro)
c.2344A>C (p.Thr782Pro)
c.2341A>C (p.Thr781Pro)
c.2299A>C (p.Thr767Pro)
c.1372A>C (p.Thr458Pro)
20g.63406908G>ACA511339265KCNQ2c.2409C>T (p.Asp803=)
c.2355C>T (p.Asp785=)
c.1752C>T (p.Asp584=)
c.2262C>T (p.Asp754=)
c.1923C>T (p.Asp641=)
c.2271C>T (p.Asp757=)
c.2241+138C>T (n.2241+138C>T)
c.2205+138C>T (n.2205+138C>T)
c.2301C>T (p.Asp767=)
c.2133+138C>T (n.2133+138C>T)
c.1680-6065C>T (n.1680-6065C>T)
c.2397C>T (p.Asp799=)
c.2463C>T (p.Asp821=)
c.2460C>T (p.Asp820=)
c.2433C>T (p.Asp811=)
c.2379C>T (p.Asp793=)
c.2352C>T (p.Asp784=)
c.2337C>T (p.Asp779=)
c.1944C>T (p.Asp648=)
c.2406C>T (p.Asp802=)
c.2343C>T (p.Asp781=)
c.2340C>T (p.Asp780=)
c.2298C>T (p.Asp766=)
c.1371C>T (p.Asp457=)
20g.63406908G>CCA409637555KCNQ2c.2409C>G (p.Asp803Glu)
c.2355C>G (p.Asp785Glu)
c.1752C>G (p.Asp584Glu)
c.2262C>G (p.Asp754Glu)
c.1923C>G (p.Asp641Glu)
c.2271C>G (p.Asp757Glu)
c.2241+138C>G (n.2241+138C>G)
c.2205+138C>G (n.2205+138C>G)
c.2301C>G (p.Asp767Glu)
c.2133+138C>G (n.2133+138C>G)
c.1680-6065C>G (n.1680-6065C>G)
c.2397C>G (p.Asp799Glu)
c.2463C>G (p.Asp821Glu)
c.2460C>G (p.Asp820Glu)
c.2433C>G (p.Asp811Glu)
c.2379C>G (p.Asp793Glu)
c.2352C>G (p.Asp784Glu)
c.2337C>G (p.Asp779Glu)
c.1944C>G (p.Asp648Glu)
c.2406C>G (p.Asp802Glu)
c.2343C>G (p.Asp781Glu)
c.2340C>G (p.Asp780Glu)
c.2298C>G (p.Asp766Glu)
c.1371C>G (p.Asp457Glu)
20g.63406908G=CA2374774298KCNQ2c.2409C= (p.Asp803=)
c.2355C= (p.Asp785=)
c.1752C= (p.Asp584=)
c.2262C= (p.Asp754=)
c.1923C= (p.Asp641=)
c.2271C= (p.Asp757=)
c.2241+138C= (n.2241+138C=)
c.2205+138C= (n.2205+138C=)
c.2301C= (p.Asp767=)
c.2133+138C= (n.2133+138C=)
c.1680-6065C= (n.1680-6065C=)
c.2397C= (p.Asp799=)
c.2463C= (p.Asp821=)
c.2460C= (p.Asp820=)
c.2433C= (p.Asp811=)
c.2379C= (p.Asp793=)
c.2352C= (p.Asp784=)
c.2337C= (p.Asp779=)
c.1944C= (p.Asp648=)
c.2406C= (p.Asp802=)
c.2343C= (p.Asp781=)
c.2340C= (p.Asp780=)
c.2298C= (p.Asp766=)
c.1371C= (p.Asp457=)
20g.63406908G>TCA9958090KCNQ2c.2409C>A (p.Asp803Glu)
c.2355C>A (p.Asp785Glu)
c.1752C>A (p.Asp584Glu)
c.2262C>A (p.Asp754Glu)
c.1923C>A (p.Asp641Glu)
c.2271C>A (p.Asp757Glu)
c.2241+138C>A (n.2241+138C>A)
c.2205+138C>A (n.2205+138C>A)
c.2301C>A (p.Asp767Glu)
c.2133+138C>A (n.2133+138C>A)
c.1680-6065C>A (n.1680-6065C>A)
c.2397C>A (p.Asp799Glu)
c.2463C>A (p.Asp821Glu)
c.2460C>A (p.Asp820Glu)
c.2433C>A (p.Asp811Glu)
c.2379C>A (p.Asp793Glu)
c.2352C>A (p.Asp784Glu)
c.2337C>A (p.Asp779Glu)
c.1944C>A (p.Asp648Glu)
c.2406C>A (p.Asp802Glu)
c.2343C>A (p.Asp781Glu)
c.2340C>A (p.Asp780Glu)
c.2298C>A (p.Asp766Glu)
c.1371C>A (p.Asp457Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406909T>ACA409637561KCNQ2c.2408A>T (p.Asp803Val)
c.2354A>T (p.Asp785Val)
c.1751A>T (p.Asp584Val)
c.2261A>T (p.Asp754Val)
c.1922A>T (p.Asp641Val)
c.2270A>T (p.Asp757Val)
c.2241+137A>T (n.2241+137A>T)
c.2205+137A>T (n.2205+137A>T)
c.2300A>T (p.Asp767Val)
c.2133+137A>T (n.2133+137A>T)
c.1680-6066A>T (n.1680-6066A>T)
c.2396A>T (p.Asp799Val)
c.2462A>T (p.Asp821Val)
c.2459A>T (p.Asp820Val)
c.2432A>T (p.Asp811Val)
c.2378A>T (p.Asp793Val)
c.2351A>T (p.Asp784Val)
c.2336A>T (p.Asp779Val)
c.1943A>T (p.Asp648Val)
c.2405A>T (p.Asp802Val)
c.2342A>T (p.Asp781Val)
c.2339A>T (p.Asp780Val)
c.2297A>T (p.Asp766Val)
c.1370A>T (p.Asp457Val)
20g.63406909T>CCA409637563KCNQ2c.2408A>G (p.Asp803Gly)
c.2354A>G (p.Asp785Gly)
c.1751A>G (p.Asp584Gly)
c.2261A>G (p.Asp754Gly)
c.1922A>G (p.Asp641Gly)
c.2270A>G (p.Asp757Gly)
c.2241+137A>G (n.2241+137A>G)
c.2205+137A>G (n.2205+137A>G)
c.2300A>G (p.Asp767Gly)
c.2133+137A>G (n.2133+137A>G)
c.1680-6066A>G (n.1680-6066A>G)
c.2396A>G (p.Asp799Gly)
c.2462A>G (p.Asp821Gly)
c.2459A>G (p.Asp820Gly)
c.2432A>G (p.Asp811Gly)
c.2378A>G (p.Asp793Gly)
c.2351A>G (p.Asp784Gly)
c.2336A>G (p.Asp779Gly)
c.1943A>G (p.Asp648Gly)
c.2405A>G (p.Asp802Gly)
c.2342A>G (p.Asp781Gly)
c.2339A>G (p.Asp780Gly)
c.2297A>G (p.Asp766Gly)
c.1370A>G (p.Asp457Gly)
20g.63406909T>GCA409637567KCNQ2c.2408A>C (p.Asp803Ala)
c.2354A>C (p.Asp785Ala)
c.1751A>C (p.Asp584Ala)
c.2261A>C (p.Asp754Ala)
c.1922A>C (p.Asp641Ala)
c.2270A>C (p.Asp757Ala)
c.2241+137A>C (n.2241+137A>C)
c.2205+137A>C (n.2205+137A>C)
c.2300A>C (p.Asp767Ala)
c.2133+137A>C (n.2133+137A>C)
c.1680-6066A>C (n.1680-6066A>C)
c.2396A>C (p.Asp799Ala)
c.2462A>C (p.Asp821Ala)
c.2459A>C (p.Asp820Ala)
c.2432A>C (p.Asp811Ala)
c.2378A>C (p.Asp793Ala)
c.2351A>C (p.Asp784Ala)
c.2336A>C (p.Asp779Ala)
c.1943A>C (p.Asp648Ala)
c.2405A>C (p.Asp802Ala)
c.2342A>C (p.Asp781Ala)
c.2339A>C (p.Asp780Ala)
c.2297A>C (p.Asp766Ala)
c.1370A>C (p.Asp457Ala)
20g.63406910C>ACA409637570KCNQ2c.2407G>T (p.Asp803Tyr)
c.2353G>T (p.Asp785Tyr)
c.1750G>T (p.Asp584Tyr)
c.2260G>T (p.Asp754Tyr)
c.1921G>T (p.Asp641Tyr)
c.2269G>T (p.Asp757Tyr)
c.2241+136G>T (n.2241+136G>T)
c.2205+136G>T (n.2205+136G>T)
c.2299G>T (p.Asp767Tyr)
c.2133+136G>T (n.2133+136G>T)
c.1680-6067G>T (n.1680-6067G>T)
c.2395G>T (p.Asp799Tyr)
c.2461G>T (p.Asp821Tyr)
c.2458G>T (p.Asp820Tyr)
c.2431G>T (p.Asp811Tyr)
c.2377G>T (p.Asp793Tyr)
c.2350G>T (p.Asp784Tyr)
c.2335G>T (p.Asp779Tyr)
c.1942G>T (p.Asp648Tyr)
c.2404G>T (p.Asp802Tyr)
c.2341G>T (p.Asp781Tyr)
c.2338G>T (p.Asp780Tyr)
c.2296G>T (p.Asp766Tyr)
c.1369G>T (p.Asp457Tyr)
20g.63406910C=CA2374774299KCNQ2c.2407G= (p.Asp803=)
c.2353G= (p.Asp785=)
c.1750G= (p.Asp584=)
c.2260G= (p.Asp754=)
c.1921G= (p.Asp641=)
c.2269G= (p.Asp757=)
c.2241+136G= (n.2241+136G=)
c.2205+136G= (n.2205+136G=)
c.2299G= (p.Asp767=)
c.2133+136G= (n.2133+136G=)
c.1680-6067G= (n.1680-6067G=)
c.2395G= (p.Asp799=)
c.2461G= (p.Asp821=)
c.2458G= (p.Asp820=)
c.2431G= (p.Asp811=)
c.2377G= (p.Asp793=)
c.2350G= (p.Asp784=)
c.2335G= (p.Asp779=)
c.1942G= (p.Asp648=)
c.2404G= (p.Asp802=)
c.2341G= (p.Asp781=)
c.2338G= (p.Asp780=)
c.2296G= (p.Asp766=)
c.1369G= (p.Asp457=)
20g.63406910C>GCA409637577KCNQ2c.2407G>C (p.Asp803His)
c.2353G>C (p.Asp785His)
c.1750G>C (p.Asp584His)
c.2260G>C (p.Asp754His)
c.1921G>C (p.Asp641His)
c.2269G>C (p.Asp757His)
c.2241+136G>C (n.2241+136G>C)
c.2205+136G>C (n.2205+136G>C)
c.2299G>C (p.Asp767His)
c.2133+136G>C (n.2133+136G>C)
c.1680-6067G>C (n.1680-6067G>C)
c.2395G>C (p.Asp799His)
c.2461G>C (p.Asp821His)
c.2458G>C (p.Asp820His)
c.2431G>C (p.Asp811His)
c.2377G>C (p.Asp793His)
c.2350G>C (p.Asp784His)
c.2335G>C (p.Asp779His)
c.1942G>C (p.Asp648His)
c.2404G>C (p.Asp802His)
c.2341G>C (p.Asp781His)
c.2338G>C (p.Asp780His)
c.2296G>C (p.Asp766His)
c.1369G>C (p.Asp457His)
20g.63406910C>TCA409637574KCNQ2c.2407G>A (p.Asp803Asn)
c.2353G>A (p.Asp785Asn)
c.1750G>A (p.Asp584Asn)
c.2260G>A (p.Asp754Asn)
c.1921G>A (p.Asp641Asn)
c.2269G>A (p.Asp757Asn)
c.2241+136G>A (n.2241+136G>A)
c.2205+136G>A (n.2205+136G>A)
c.2299G>A (p.Asp767Asn)
c.2133+136G>A (n.2133+136G>A)
c.1680-6067G>A (n.1680-6067G>A)
c.2395G>A (p.Asp799Asn)
c.2461G>A (p.Asp821Asn)
c.2458G>A (p.Asp820Asn)
c.2431G>A (p.Asp811Asn)
c.2377G>A (p.Asp793Asn)
c.2350G>A (p.Asp784Asn)
c.2335G>A (p.Asp779Asn)
c.1942G>A (p.Asp648Asn)
c.2404G>A (p.Asp802Asn)
c.2341G>A (p.Asp781Asn)
c.2338G>A (p.Asp780Asn)
c.2296G>A (p.Asp766Asn)
c.1369G>A (p.Asp457Asn)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
20g.63406911G>ACA9958091KCNQ2c.2406C>T (p.Ser802=)
c.2352C>T (p.Ser784=)
c.1749C>T (p.Ser583=)
c.2259C>T (p.Ser753=)
c.1920C>T (p.Ser640=)
c.2268C>T (p.Ser756=)
c.2241+135C>T (n.2241+135C>T)
c.2205+135C>T (n.2205+135C>T)
c.2298C>T (p.Ser766=)
c.2133+135C>T (n.2133+135C>T)
c.1680-6068C>T (n.1680-6068C>T)
c.2394C>T (p.Ser798=)
c.2460C>T (p.Ser820=)
c.2457C>T (p.Ser819=)
c.2430C>T (p.Ser810=)
c.2376C>T (p.Ser792=)
c.2349C>T (p.Ser783=)
c.2334C>T (p.Ser778=)
c.1941C>T (p.Ser647=)
c.2403C>T (p.Ser801=)
c.2340C>T (p.Ser780=)
c.2337C>T (p.Ser779=)
c.2295C>T (p.Ser765=)
c.1368C>T (p.Ser456=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63406911G>CCA409637586KCNQ2c.2406C>G (p.Ser802Arg)
c.2352C>G (p.Ser784Arg)
c.1749C>G (p.Ser583Arg)
c.2259C>G (p.Ser753Arg)
c.1920C>G (p.Ser640Arg)
c.2268C>G (p.Ser756Arg)
c.2241+135C>G (n.2241+135C>G)
c.2205+135C>G (n.2205+135C>G)
c.2298C>G (p.Ser766Arg)
c.2133+135C>G (n.2133+135C>G)
c.1680-6068C>G (n.1680-6068C>G)
c.2394C>G (p.Ser798Arg)
c.2460C>G (p.Ser820Arg)
c.2457C>G (p.Ser819Arg)
c.2430C>G (p.Ser810Arg)
c.2376C>G (p.Ser792Arg)
c.2349C>G (p.Ser783Arg)
c.2334C>G (p.Ser778Arg)
c.1941C>G (p.Ser647Arg)
c.2403C>G (p.Ser801Arg)
c.2340C>G (p.Ser780Arg)
c.2337C>G (p.Ser779Arg)
c.2295C>G (p.Ser765Arg)
c.1368C>G (p.Ser456Arg)
20g.63406911G=CA2374774300KCNQ2c.2406C= (p.Ser802=)
c.2352C= (p.Ser784=)
c.1749C= (p.Ser583=)
c.2259C= (p.Ser753=)
c.1920C= (p.Ser640=)
c.2268C= (p.Ser756=)
c.2241+135C= (n.2241+135C=)
c.2205+135C= (n.2205+135C=)
c.2298C= (p.Ser766=)
c.2133+135C= (n.2133+135C=)
c.1680-6068C= (n.1680-6068C=)
c.2394C= (p.Ser798=)
c.2460C= (p.Ser820=)
c.2457C= (p.Ser819=)
c.2430C= (p.Ser810=)
c.2376C= (p.Ser792=)
c.2349C= (p.Ser783=)
c.2334C= (p.Ser778=)
c.1941C= (p.Ser647=)
c.2403C= (p.Ser801=)
c.2340C= (p.Ser780=)
c.2337C= (p.Ser779=)
c.2295C= (p.Ser765=)
c.1368C= (p.Ser456=)
20g.63406911G>TCA409637581KCNQ2c.2406C>A (p.Ser802Arg)
c.2352C>A (p.Ser784Arg)
c.1749C>A (p.Ser583Arg)
c.2259C>A (p.Ser753Arg)
c.1920C>A (p.Ser640Arg)
c.2268C>A (p.Ser756Arg)
c.2241+135C>A (n.2241+135C>A)
c.2205+135C>A (n.2205+135C>A)
c.2298C>A (p.Ser766Arg)
c.2133+135C>A (n.2133+135C>A)
c.1680-6068C>A (n.1680-6068C>A)
c.2394C>A (p.Ser798Arg)
c.2460C>A (p.Ser820Arg)
c.2457C>A (p.Ser819Arg)
c.2430C>A (p.Ser810Arg)
c.2376C>A (p.Ser792Arg)
c.2349C>A (p.Ser783Arg)
c.2334C>A (p.Ser778Arg)
c.1941C>A (p.Ser647Arg)
c.2403C>A (p.Ser801Arg)
c.2340C>A (p.Ser780Arg)
c.2337C>A (p.Ser779Arg)
c.2295C>A (p.Ser765Arg)
c.1368C>A (p.Ser456Arg)
 gnomAD v4
20g.63406912C>ACA409637588KCNQ2c.2405G>T (p.Ser802Ile)
c.2351G>T (p.Ser784Ile)
c.1748G>T (p.Ser583Ile)
c.2258G>T (p.Ser753Ile)
c.1919G>T (p.Ser640Ile)
c.2267G>T (p.Ser756Ile)
c.2241+134G>T (n.2241+134G>T)
c.2205+134G>T (n.2205+134G>T)
c.2297G>T (p.Ser766Ile)
c.2133+134G>T (n.2133+134G>T)
c.1680-6069G>T (n.1680-6069G>T)
c.2393G>T (p.Ser798Ile)
c.2459G>T (p.Ser820Ile)
c.2456G>T (p.Ser819Ile)
c.2429G>T (p.Ser810Ile)
c.2375G>T (p.Ser792Ile)
c.2348G>T (p.Ser783Ile)
c.2333G>T (p.Ser778Ile)
c.1940G>T (p.Ser647Ile)
c.2402G>T (p.Ser801Ile)
c.2339G>T (p.Ser780Ile)
c.2336G>T (p.Ser779Ile)
c.2294G>T (p.Ser765Ile)
c.1367G>T (p.Ser456Ile)
 gnomAD v4
20g.63406912C>GCA409637592KCNQ2c.2405G>C (p.Ser802Thr)
c.2351G>C (p.Ser784Thr)
c.1748G>C (p.Ser583Thr)
c.2258G>C (p.Ser753Thr)
c.1919G>C (p.Ser640Thr)
c.2267G>C (p.Ser756Thr)
c.2241+134G>C (n.2241+134G>C)
c.2205+134G>C (n.2205+134G>C)
c.2297G>C (p.Ser766Thr)
c.2133+134G>C (n.2133+134G>C)
c.1680-6069G>C (n.1680-6069G>C)
c.2393G>C (p.Ser798Thr)
c.2459G>C (p.Ser820Thr)
c.2456G>C (p.Ser819Thr)
c.2429G>C (p.Ser810Thr)
c.2375G>C (p.Ser792Thr)
c.2348G>C (p.Ser783Thr)
c.2333G>C (p.Ser778Thr)
c.1940G>C (p.Ser647Thr)
c.2402G>C (p.Ser801Thr)
c.2339G>C (p.Ser780Thr)
c.2336G>C (p.Ser779Thr)
c.2294G>C (p.Ser765Thr)
c.1367G>C (p.Ser456Thr)
20g.63406912C>TCA409637590KCNQ2c.2405G>A (p.Ser802Asn)
c.2351G>A (p.Ser784Asn)
c.1748G>A (p.Ser583Asn)
c.2258G>A (p.Ser753Asn)
c.1919G>A (p.Ser640Asn)
c.2267G>A (p.Ser756Asn)
c.2241+134G>A (n.2241+134G>A)
c.2205+134G>A (n.2205+134G>A)
c.2297G>A (p.Ser766Asn)
c.2133+134G>A (n.2133+134G>A)
c.1680-6069G>A (n.1680-6069G>A)
c.2393G>A (p.Ser798Asn)
c.2459G>A (p.Ser820Asn)
c.2456G>A (p.Ser819Asn)
c.2429G>A (p.Ser810Asn)
c.2375G>A (p.Ser792Asn)
c.2348G>A (p.Ser783Asn)
c.2333G>A (p.Ser778Asn)
c.1940G>A (p.Ser647Asn)
c.2402G>A (p.Ser801Asn)
c.2339G>A (p.Ser780Asn)
c.2336G>A (p.Ser779Asn)
c.2294G>A (p.Ser765Asn)
c.1367G>A (p.Ser456Asn)
20g.63406913T>ACA409637596KCNQ2c.2404A>T (p.Ser802Cys)
c.2350A>T (p.Ser784Cys)
c.1747A>T (p.Ser583Cys)
c.2257A>T (p.Ser753Cys)
c.1918A>T (p.Ser640Cys)
c.2266A>T (p.Ser756Cys)
c.2241+133A>T (n.2241+133A>T)
c.2205+133A>T (n.2205+133A>T)
c.2296A>T (p.Ser766Cys)
c.2133+133A>T (n.2133+133A>T)
c.1680-6070A>T (n.1680-6070A>T)
c.2392A>T (p.Ser798Cys)
c.2458A>T (p.Ser820Cys)
c.2455A>T (p.Ser819Cys)
c.2428A>T (p.Ser810Cys)
c.2374A>T (p.Ser792Cys)
c.2347A>T (p.Ser783Cys)
c.2332A>T (p.Ser778Cys)
c.1939A>T (p.Ser647Cys)
c.2401A>T (p.Ser801Cys)
c.2338A>T (p.Ser780Cys)
c.2335A>T (p.Ser779Cys)
c.2293A>T (p.Ser765Cys)
c.1366A>T (p.Ser456Cys)
20g.63406913T>CCA409637602KCNQ2c.2404A>G (p.Ser802Gly)
c.2350A>G (p.Ser784Gly)
c.1747A>G (p.Ser583Gly)
c.2257A>G (p.Ser753Gly)
c.1918A>G (p.Ser640Gly)
c.2266A>G (p.Ser756Gly)
c.2241+133A>G (n.2241+133A>G)
c.2205+133A>G (n.2205+133A>G)
c.2296A>G (p.Ser766Gly)
c.2133+133A>G (n.2133+133A>G)
c.1680-6070A>G (n.1680-6070A>G)
c.2392A>G (p.Ser798Gly)
c.2458A>G (p.Ser820Gly)
c.2455A>G (p.Ser819Gly)
c.2428A>G (p.Ser810Gly)
c.2374A>G (p.Ser792Gly)
c.2347A>G (p.Ser783Gly)
c.2332A>G (p.Ser778Gly)
c.1939A>G (p.Ser647Gly)
c.2401A>G (p.Ser801Gly)
c.2338A>G (p.Ser780Gly)
c.2335A>G (p.Ser779Gly)
c.2293A>G (p.Ser765Gly)
c.1366A>G (p.Ser456Gly)
20g.63406913T>GCA409637599KCNQ2c.2404A>C (p.Ser802Arg)
c.2350A>C (p.Ser784Arg)
c.1747A>C (p.Ser583Arg)
c.2257A>C (p.Ser753Arg)
c.1918A>C (p.Ser640Arg)
c.2266A>C (p.Ser756Arg)
c.2241+133A>C (n.2241+133A>C)
c.2205+133A>C (n.2205+133A>C)
c.2296A>C (p.Ser766Arg)
c.2133+133A>C (n.2133+133A>C)
c.1680-6070A>C (n.1680-6070A>C)
c.2392A>C (p.Ser798Arg)
c.2458A>C (p.Ser820Arg)
c.2455A>C (p.Ser819Arg)
c.2428A>C (p.Ser810Arg)
c.2374A>C (p.Ser792Arg)
c.2347A>C (p.Ser783Arg)
c.2332A>C (p.Ser778Arg)
c.1939A>C (p.Ser647Arg)
c.2401A>C (p.Ser801Arg)
c.2338A>C (p.Ser780Arg)
c.2335A>C (p.Ser779Arg)
c.2293A>C (p.Ser765Arg)
c.1366A>C (p.Ser456Arg)
20g.63406914G>ACA511339268KCNQ2c.2403C>T (p.Asp801=)
c.2349C>T (p.Asp783=)
c.1746C>T (p.Asp582=)
c.2256C>T (p.Asp752=)
c.1917C>T (p.Asp639=)
c.2265C>T (p.Asp755=)
c.2241+132C>T (n.2241+132C>T)
c.2205+132C>T (n.2205+132C>T)
c.2295C>T (p.Asp765=)
c.2133+132C>T (n.2133+132C>T)
c.1680-6071C>T (n.1680-6071C>T)
c.2391C>T (p.Asp797=)
c.2457C>T (p.Asp819=)
c.2454C>T (p.Asp818=)
c.2427C>T (p.Asp809=)
c.2373C>T (p.Asp791=)
c.2346C>T (p.Asp782=)
c.2331C>T (p.Asp777=)
c.1938C>T (p.Asp646=)
c.2400C>T (p.Asp800=)
c.2337C>T (p.Asp779=)
c.2334C>T (p.Asp778=)
c.2292C>T (p.Asp764=)
c.1365C>T (p.Asp455=)
20g.63406914G>CCA409637604KCNQ2c.2403C>G (p.Asp801Glu)
c.2349C>G (p.Asp783Glu)
c.1746C>G (p.Asp582Glu)
c.2256C>G (p.Asp752Glu)
c.1917C>G (p.Asp639Glu)
c.2265C>G (p.Asp755Glu)
c.2241+132C>G (n.2241+132C>G)
c.2205+132C>G (n.2205+132C>G)
c.2295C>G (p.Asp765Glu)
c.2133+132C>G (n.2133+132C>G)
c.1680-6071C>G (n.1680-6071C>G)
c.2391C>G (p.Asp797Glu)
c.2457C>G (p.Asp819Glu)
c.2454C>G (p.Asp818Glu)
c.2427C>G (p.Asp809Glu)
c.2373C>G (p.Asp791Glu)
c.2346C>G (p.Asp782Glu)
c.2331C>G (p.Asp777Glu)
c.1938C>G (p.Asp646Glu)
c.2400C>G (p.Asp800Glu)
c.2337C>G (p.Asp779Glu)
c.2334C>G (p.Asp778Glu)
c.2292C>G (p.Asp764Glu)
c.1365C>G (p.Asp455Glu)
 gnomAD v4
20g.63406914G=CA2374774301KCNQ2c.2403C= (p.Asp801=)
c.2349C= (p.Asp783=)
c.1746C= (p.Asp582=)
c.2256C= (p.Asp752=)
c.1917C= (p.Asp639=)
c.2265C= (p.Asp755=)
c.2241+132C= (n.2241+132C=)
c.2205+132C= (n.2205+132C=)
c.2295C= (p.Asp765=)
c.2133+132C= (n.2133+132C=)
c.1680-6071C= (n.1680-6071C=)
c.2391C= (p.Asp797=)
c.2457C= (p.Asp819=)
c.2454C= (p.Asp818=)
c.2427C= (p.Asp809=)
c.2373C= (p.Asp791=)
c.2346C= (p.Asp782=)
c.2331C= (p.Asp777=)
c.1938C= (p.Asp646=)
c.2400C= (p.Asp800=)
c.2337C= (p.Asp779=)
c.2334C= (p.Asp778=)
c.2292C= (p.Asp764=)
c.1365C= (p.Asp455=)
20g.63406914G>TCA409637606KCNQ2c.2403C>A (p.Asp801Glu)
c.2349C>A (p.Asp783Glu)
c.1746C>A (p.Asp582Glu)
c.2256C>A (p.Asp752Glu)
c.1917C>A (p.Asp639Glu)
c.2265C>A (p.Asp755Glu)
c.2241+132C>A (n.2241+132C>A)
c.2205+132C>A (n.2205+132C>A)
c.2295C>A (p.Asp765Glu)
c.2133+132C>A (n.2133+132C>A)
c.1680-6071C>A (n.1680-6071C>A)
c.2391C>A (p.Asp797Glu)
c.2457C>A (p.Asp819Glu)
c.2454C>A (p.Asp818Glu)
c.2427C>A (p.Asp809Glu)
c.2373C>A (p.Asp791Glu)
c.2346C>A (p.Asp782Glu)
c.2331C>A (p.Asp777Glu)
c.1938C>A (p.Asp646Glu)
c.2400C>A (p.Asp800Glu)
c.2337C>A (p.Asp779Glu)
c.2334C>A (p.Asp778Glu)
c.2292C>A (p.Asp764Glu)
c.1365C>A (p.Asp455Glu)
 dbSNP gnomAD v2 gnomAD v4
20g.63406915T>ACA409637609KCNQ2c.2402A>T (p.Asp801Val)
c.2348A>T (p.Asp783Val)
c.1745A>T (p.Asp582Val)
c.2255A>T (p.Asp752Val)
c.1916A>T (p.Asp639Val)
c.2264A>T (p.Asp755Val)
c.2241+131A>T (n.2241+131A>T)
c.2205+131A>T (n.2205+131A>T)
c.2294A>T (p.Asp765Val)
c.2133+131A>T (n.2133+131A>T)
c.1680-6072A>T (n.1680-6072A>T)
c.2390A>T (p.Asp797Val)
c.2456A>T (p.Asp819Val)
c.2453A>T (p.Asp818Val)
c.2426A>T (p.Asp809Val)
c.2372A>T (p.Asp791Val)
c.2345A>T (p.Asp782Val)
c.2330A>T (p.Asp777Val)
c.1937A>T (p.Asp646Val)
c.2399A>T (p.Asp800Val)
c.2336A>T (p.Asp779Val)
c.2333A>T (p.Asp778Val)
c.2291A>T (p.Asp764Val)
c.1364A>T (p.Asp455Val)
20g.63406915T>CCA409637615KCNQ2c.2402A>G (p.Asp801Gly)
c.2348A>G (p.Asp783Gly)
c.1745A>G (p.Asp582Gly)
c.2255A>G (p.Asp752Gly)
c.1916A>G (p.Asp639Gly)
c.2264A>G (p.Asp755Gly)
c.2241+131A>G (n.2241+131A>G)
c.2205+131A>G (n.2205+131A>G)
c.2294A>G (p.Asp765Gly)
c.2133+131A>G (n.2133+131A>G)
c.1680-6072A>G (n.1680-6072A>G)
c.2390A>G (p.Asp797Gly)
c.2456A>G (p.Asp819Gly)
c.2453A>G (p.Asp818Gly)
c.2426A>G (p.Asp809Gly)
c.2372A>G (p.Asp791Gly)
c.2345A>G (p.Asp782Gly)
c.2330A>G (p.Asp777Gly)
c.1937A>G (p.Asp646Gly)
c.2399A>G (p.Asp800Gly)
c.2336A>G (p.Asp779Gly)
c.2333A>G (p.Asp778Gly)
c.2291A>G (p.Asp764Gly)
c.1364A>G (p.Asp455Gly)
 ClinVar
20g.63406915T>GCA409637611KCNQ2c.2402A>C (p.Asp801Ala)
c.2348A>C (p.Asp783Ala)
c.1745A>C (p.Asp582Ala)
c.2255A>C (p.Asp752Ala)
c.1916A>C (p.Asp639Ala)
c.2264A>C (p.Asp755Ala)
c.2241+131A>C (n.2241+131A>C)
c.2205+131A>C (n.2205+131A>C)
c.2294A>C (p.Asp765Ala)
c.2133+131A>C (n.2133+131A>C)
c.1680-6072A>C (n.1680-6072A>C)
c.2390A>C (p.Asp797Ala)
c.2456A>C (p.Asp819Ala)
c.2453A>C (p.Asp818Ala)
c.2426A>C (p.Asp809Ala)
c.2372A>C (p.Asp791Ala)
c.2345A>C (p.Asp782Ala)
c.2330A>C (p.Asp777Ala)
c.1937A>C (p.Asp646Ala)
c.2399A>C (p.Asp800Ala)
c.2336A>C (p.Asp779Ala)
c.2333A>C (p.Asp778Ala)
c.2291A>C (p.Asp764Ala)
c.1364A>C (p.Asp455Ala)
20g.63406916C>ACA409637617KCNQ2c.2401G>T (p.Asp801Tyr)
c.2347G>T (p.Asp783Tyr)
c.1744G>T (p.Asp582Tyr)
c.2254G>T (p.Asp752Tyr)
c.1915G>T (p.Asp639Tyr)
c.2263G>T (p.Asp755Tyr)
c.2241+130G>T (n.2241+130G>T)
c.2205+130G>T (n.2205+130G>T)
c.2293G>T (p.Asp765Tyr)
c.2133+130G>T (n.2133+130G>T)
c.1680-6073G>T (n.1680-6073G>T)
c.2389G>T (p.Asp797Tyr)
c.2455G>T (p.Asp819Tyr)
c.2452G>T (p.Asp818Tyr)
c.2425G>T (p.Asp809Tyr)
c.2371G>T (p.Asp791Tyr)
c.2344G>T (p.Asp782Tyr)
c.2329G>T (p.Asp777Tyr)
c.1936G>T (p.Asp646Tyr)
c.2398G>T (p.Asp800Tyr)
c.2335G>T (p.Asp779Tyr)
c.2332G>T (p.Asp778Tyr)
c.2290G>T (p.Asp764Tyr)
c.1363G>T (p.Asp455Tyr)
 gnomAD v4 COSMIC COSMIC COSMIC
20g.63406916C>GCA409637618KCNQ2c.2401G>C (p.Asp801His)
c.2347G>C (p.Asp783His)
c.1744G>C (p.Asp582His)
c.2254G>C (p.Asp752His)
c.1915G>C (p.Asp639His)
c.2263G>C (p.Asp755His)
c.2241+130G>C (n.2241+130G>C)
c.2205+130G>C (n.2205+130G>C)
c.2293G>C (p.Asp765His)
c.2133+130G>C (n.2133+130G>C)
c.1680-6073G>C (n.1680-6073G>C)
c.2389G>C (p.Asp797His)
c.2455G>C (p.Asp819His)
c.2452G>C (p.Asp818His)
c.2425G>C (p.Asp809His)
c.2371G>C (p.Asp791His)
c.2344G>C (p.Asp782His)
c.2329G>C (p.Asp777His)
c.1936G>C (p.Asp646His)
c.2398G>C (p.Asp800His)
c.2335G>C (p.Asp779His)
c.2332G>C (p.Asp778His)
c.2290G>C (p.Asp764His)
c.1363G>C (p.Asp455His)
20g.63406916C>TCA409637626KCNQ2c.2401G>A (p.Asp801Asn)
c.2347G>A (p.Asp783Asn)
c.1744G>A (p.Asp582Asn)
c.2254G>A (p.Asp752Asn)
c.1915G>A (p.Asp639Asn)
c.2263G>A (p.Asp755Asn)
c.2241+130G>A (n.2241+130G>A)
c.2205+130G>A (n.2205+130G>A)
c.2293G>A (p.Asp765Asn)
c.2133+130G>A (n.2133+130G>A)
c.1680-6073G>A (n.1680-6073G>A)
c.2389G>A (p.Asp797Asn)
c.2455G>A (p.Asp819Asn)
c.2452G>A (p.Asp818Asn)
c.2425G>A (p.Asp809Asn)
c.2371G>A (p.Asp791Asn)
c.2344G>A (p.Asp782Asn)
c.2329G>A (p.Asp777Asn)
c.1936G>A (p.Asp646Asn)
c.2398G>A (p.Asp800Asn)
c.2335G>A (p.Asp779Asn)
c.2332G>A (p.Asp778Asn)
c.2290G>A (p.Asp764Asn)
c.1363G>A (p.Asp455Asn)
 COSMIC COSMIC COSMIC
20g.63406917C>ACA511339270KCNQ2c.2400G>T (p.Arg800=)
c.2346G>T (p.Arg782=)
c.1743G>T (p.Arg581=)
c.2253G>T (p.Arg751=)
c.1914G>T (p.Arg638=)
c.2262G>T (p.Arg754=)
c.2241+129G>T (n.2241+129G>T)
c.2205+129G>T (n.2205+129G>T)
c.2292G>T (p.Arg764=)
c.2133+129G>T (n.2133+129G>T)
c.1680-6074G>T (n.1680-6074G>T)
c.2388G>T (p.Arg796=)
c.2454G>T (p.Arg818=)
c.2451G>T (p.Arg817=)
c.2424G>T (p.Arg808=)
c.2370G>T (p.Arg790=)
c.2343G>T (p.Arg781=)
c.2328G>T (p.Arg776=)
c.1935G>T (p.Arg645=)
c.2397G>T (p.Arg799=)
c.2334G>T (p.Arg778=)
c.2331G>T (p.Arg777=)
c.2289G>T (p.Arg763=)
c.1362G>T (p.Arg454=)
 gnomAD v4
20g.63406917C=CA2374774302KCNQ2c.2400G= (p.Arg800=)
c.2346G= (p.Arg782=)
c.1743G= (p.Arg581=)
c.2253G= (p.Arg751=)
c.1914G= (p.Arg638=)
c.2262G= (p.Arg754=)
c.2241+129G= (n.2241+129G=)
c.2205+129G= (n.2205+129G=)
c.2292G= (p.Arg764=)
c.2133+129G= (n.2133+129G=)
c.1680-6074G= (n.1680-6074G=)
c.2388G= (p.Arg796=)
c.2454G= (p.Arg818=)
c.2451G= (p.Arg817=)
c.2424G= (p.Arg808=)
c.2370G= (p.Arg790=)
c.2343G= (p.Arg781=)
c.2328G= (p.Arg776=)
c.1935G= (p.Arg645=)
c.2397G= (p.Arg799=)
c.2334G= (p.Arg778=)
c.2331G= (p.Arg777=)
c.2289G= (p.Arg763=)
c.1362G= (p.Arg454=)
20g.63406917C>GCA511339271KCNQ2c.2400G>C (p.Arg800=)
c.2346G>C (p.Arg782=)
c.1743G>C (p.Arg581=)
c.2253G>C (p.Arg751=)
c.1914G>C (p.Arg638=)
c.2262G>C (p.Arg754=)
c.2241+129G>C (n.2241+129G>C)
c.2205+129G>C (n.2205+129G>C)
c.2292G>C (p.Arg764=)
c.2133+129G>C (n.2133+129G>C)
c.1680-6074G>C (n.1680-6074G>C)
c.2388G>C (p.Arg796=)
c.2454G>C (p.Arg818=)
c.2451G>C (p.Arg817=)
c.2424G>C (p.Arg808=)
c.2370G>C (p.Arg790=)
c.2343G>C (p.Arg781=)
c.2328G>C (p.Arg776=)
c.1935G>C (p.Arg645=)
c.2397G>C (p.Arg799=)
c.2334G>C (p.Arg778=)
c.2331G>C (p.Arg777=)
c.2289G>C (p.Arg763=)
c.1362G>C (p.Arg454=)
 dbSNP gnomAD v2
20g.63406917C>TCA511339272KCNQ2c.2400G>A (p.Arg800=)
c.2346G>A (p.Arg782=)
c.1743G>A (p.Arg581=)
c.2253G>A (p.Arg751=)
c.1914G>A (p.Arg638=)
c.2262G>A (p.Arg754=)
c.2241+129G>A (n.2241+129G>A)
c.2205+129G>A (n.2205+129G>A)
c.2292G>A (p.Arg764=)
c.2133+129G>A (n.2133+129G>A)
c.1680-6074G>A (n.1680-6074G>A)
c.2388G>A (p.Arg796=)
c.2454G>A (p.Arg818=)
c.2451G>A (p.Arg817=)
c.2424G>A (p.Arg808=)
c.2370G>A (p.Arg790=)
c.2343G>A (p.Arg781=)
c.2328G>A (p.Arg776=)
c.1935G>A (p.Arg645=)
c.2397G>A (p.Arg799=)
c.2334G>A (p.Arg778=)
c.2331G>A (p.Arg777=)
c.2289G>A (p.Arg763=)
c.1362G>A (p.Arg454=)
 ClinVar dbSNP gnomAD v4
20g.63406918C>ACA9958092KCNQ2c.2399G>T (p.Arg800Leu)
c.2345G>T (p.Arg782Leu)
c.1742G>T (p.Arg581Leu)
c.2252G>T (p.Arg751Leu)
c.1913G>T (p.Arg638Leu)
c.2261G>T (p.Arg754Leu)
c.2241+128G>T (n.2241+128G>T)
c.2205+128G>T (n.2205+128G>T)
c.2291G>T (p.Arg764Leu)
c.2133+128G>T (n.2133+128G>T)
c.1680-6075G>T (n.1680-6075G>T)
c.2387G>T (p.Arg796Leu)
c.2453G>T (p.Arg818Leu)
c.2450G>T (p.Arg817Leu)
c.2423G>T (p.Arg808Leu)
c.2369G>T (p.Arg790Leu)
c.2342G>T (p.Arg781Leu)
c.2327G>T (p.Arg776Leu)
c.1934G>T (p.Arg645Leu)
c.2396G>T (p.Arg799Leu)
c.2333G>T (p.Arg778Leu)
c.2330G>T (p.Arg777Leu)
c.2288G>T (p.Arg763Leu)
c.1361G>T (p.Arg454Leu)
 dbSNP ExAC gnomAD v4
20g.63406918C=CA2374774303KCNQ2c.2399G= (p.Arg800=)
c.2345G= (p.Arg782=)
c.1742G= (p.Arg581=)
c.2252G= (p.Arg751=)
c.1913G= (p.Arg638=)
c.2261G= (p.Arg754=)
c.2241+128G= (n.2241+128G=)
c.2205+128G= (n.2205+128G=)
c.2291G= (p.Arg764=)
c.2133+128G= (n.2133+128G=)
c.1680-6075G= (n.1680-6075G=)
c.2387G= (p.Arg796=)
c.2453G= (p.Arg818=)
c.2450G= (p.Arg817=)
c.2423G= (p.Arg808=)
c.2369G= (p.Arg790=)
c.2342G= (p.Arg781=)
c.2327G= (p.Arg776=)
c.1934G= (p.Arg645=)
c.2396G= (p.Arg799=)
c.2333G= (p.Arg778=)
c.2330G= (p.Arg777=)
c.2288G= (p.Arg763=)
c.1361G= (p.Arg454=)
20g.63406918C>GCA409637632KCNQ2c.2399G>C (p.Arg800Pro)
c.2345G>C (p.Arg782Pro)
c.1742G>C (p.Arg581Pro)
c.2252G>C (p.Arg751Pro)
c.1913G>C (p.Arg638Pro)
c.2261G>C (p.Arg754Pro)
c.2241+128G>C (n.2241+128G>C)
c.2205+128G>C (n.2205+128G>C)
c.2291G>C (p.Arg764Pro)
c.2133+128G>C (n.2133+128G>C)
c.1680-6075G>C (n.1680-6075G>C)
c.2387G>C (p.Arg796Pro)
c.2453G>C (p.Arg818Pro)
c.2450G>C (p.Arg817Pro)
c.2423G>C (p.Arg808Pro)
c.2369G>C (p.Arg790Pro)
c.2342G>C (p.Arg781Pro)
c.2327G>C (p.Arg776Pro)
c.1934G>C (p.Arg645Pro)
c.2396G>C (p.Arg799Pro)
c.2333G>C (p.Arg778Pro)
c.2330G>C (p.Arg777Pro)
c.2288G>C (p.Arg763Pro)
c.1361G>C (p.Arg454Pro)
20g.63406918C>TCA9958093KCNQ2c.2399G>A (p.Arg800Gln)
c.2345G>A (p.Arg782Gln)
c.1742G>A (p.Arg581Gln)
c.2252G>A (p.Arg751Gln)
c.1913G>A (p.Arg638Gln)
c.2261G>A (p.Arg754Gln)
c.2241+128G>A (n.2241+128G>A)
c.2205+128G>A (n.2205+128G>A)
c.2291G>A (p.Arg764Gln)
c.2133+128G>A (n.2133+128G>A)
c.1680-6075G>A (n.1680-6075G>A)
c.2387G>A (p.Arg796Gln)
c.2453G>A (p.Arg818Gln)
c.2450G>A (p.Arg817Gln)
c.2423G>A (p.Arg808Gln)
c.2369G>A (p.Arg790Gln)
c.2342G>A (p.Arg781Gln)
c.2327G>A (p.Arg776Gln)
c.1934G>A (p.Arg645Gln)
c.2396G>A (p.Arg799Gln)
c.2333G>A (p.Arg778Gln)
c.2330G>A (p.Arg777Gln)
c.2288G>A (p.Arg763Gln)
c.1361G>A (p.Arg454Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406919G>ACA9958094KCNQ2c.2398C>T (p.Arg800Trp)
c.2344C>T (p.Arg782Trp)
c.1741C>T (p.Arg581Trp)
c.2251C>T (p.Arg751Trp)
c.1912C>T (p.Arg638Trp)
c.2260C>T (p.Arg754Trp)
c.2241+127C>T (n.2241+127C>T)
c.2205+127C>T (n.2205+127C>T)
c.2290C>T (p.Arg764Trp)
c.2133+127C>T (n.2133+127C>T)
c.1680-6076C>T (n.1680-6076C>T)
c.2386C>T (p.Arg796Trp)
c.2452C>T (p.Arg818Trp)
c.2449C>T (p.Arg817Trp)
c.2422C>T (p.Arg808Trp)
c.2368C>T (p.Arg790Trp)
c.2341C>T (p.Arg781Trp)
c.2326C>T (p.Arg776Trp)
c.1933C>T (p.Arg645Trp)
c.2395C>T (p.Arg799Trp)
c.2332C>T (p.Arg778Trp)
c.2329C>T (p.Arg777Trp)
c.2287C>T (p.Arg763Trp)
c.1360C>T (p.Arg454Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406919G>CCA409637636KCNQ2c.2398C>G (p.Arg800Gly)
c.2344C>G (p.Arg782Gly)
c.1741C>G (p.Arg581Gly)
c.2251C>G (p.Arg751Gly)
c.1912C>G (p.Arg638Gly)
c.2260C>G (p.Arg754Gly)
c.2241+127C>G (n.2241+127C>G)
c.2205+127C>G (n.2205+127C>G)
c.2290C>G (p.Arg764Gly)
c.2133+127C>G (n.2133+127C>G)
c.1680-6076C>G (n.1680-6076C>G)
c.2386C>G (p.Arg796Gly)
c.2452C>G (p.Arg818Gly)
c.2449C>G (p.Arg817Gly)
c.2422C>G (p.Arg808Gly)
c.2368C>G (p.Arg790Gly)
c.2341C>G (p.Arg781Gly)
c.2326C>G (p.Arg776Gly)
c.1933C>G (p.Arg645Gly)
c.2395C>G (p.Arg799Gly)
c.2332C>G (p.Arg778Gly)
c.2329C>G (p.Arg777Gly)
c.2287C>G (p.Arg763Gly)
c.1360C>G (p.Arg454Gly)
20g.63406919G=CA2374774304KCNQ2c.2398C= (p.Arg800=)
c.2344C= (p.Arg782=)
c.1741C= (p.Arg581=)
c.2251C= (p.Arg751=)
c.1912C= (p.Arg638=)
c.2260C= (p.Arg754=)
c.2241+127C= (n.2241+127C=)
c.2205+127C= (n.2205+127C=)
c.2290C= (p.Arg764=)
c.2133+127C= (n.2133+127C=)
c.1680-6076C= (n.1680-6076C=)
c.2386C= (p.Arg796=)
c.2452C= (p.Arg818=)
c.2449C= (p.Arg817=)
c.2422C= (p.Arg808=)
c.2368C= (p.Arg790=)
c.2341C= (p.Arg781=)
c.2326C= (p.Arg776=)
c.1933C= (p.Arg645=)
c.2395C= (p.Arg799=)
c.2332C= (p.Arg778=)
c.2329C= (p.Arg777=)
c.2287C= (p.Arg763=)
c.1360C= (p.Arg454=)
20g.63406919G>TCA16608499KCNQ2c.2398C>A (p.Arg800=)
c.2344C>A (p.Arg782=)
c.1741C>A (p.Arg581=)
c.2251C>A (p.Arg751=)
c.1912C>A (p.Arg638=)
c.2260C>A (p.Arg754=)
c.2241+127C>A (n.2241+127C>A)
c.2205+127C>A (n.2205+127C>A)
c.2290C>A (p.Arg764=)
c.2133+127C>A (n.2133+127C>A)
c.1680-6076C>A (n.1680-6076C>A)
c.2386C>A (p.Arg796=)
c.2452C>A (p.Arg818=)
c.2449C>A (p.Arg817=)
c.2422C>A (p.Arg808=)
c.2368C>A (p.Arg790=)
c.2341C>A (p.Arg781=)
c.2326C>A (p.Arg776=)
c.1933C>A (p.Arg645=)
c.2395C>A (p.Arg799=)
c.2332C>A (p.Arg778=)
c.2329C>A (p.Arg777=)
c.2287C>A (p.Arg763=)
c.1360C>A (p.Arg454=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63406920C>ACA511339279KCNQ2c.2397G>T (p.Leu799=)
c.2343G>T (p.Leu781=)
c.1740G>T (p.Leu580=)
c.2250G>T (p.Leu750=)
c.1911G>T (p.Leu637=)
c.2259G>T (p.Leu753=)
c.2241+126G>T (n.2241+126G>T)
c.2205+126G>T (n.2205+126G>T)
c.2289G>T (p.Leu763=)
c.2133+126G>T (n.2133+126G>T)
c.1680-6077G>T (n.1680-6077G>T)
c.2385G>T (p.Leu795=)
c.2451G>T (p.Leu817=)
c.2448G>T (p.Leu816=)
c.2421G>T (p.Leu807=)
c.2367G>T (p.Leu789=)
c.2340G>T (p.Leu780=)
c.2325G>T (p.Leu775=)
c.1932G>T (p.Leu644=)
c.2394G>T (p.Leu798=)
c.2331G>T (p.Leu777=)
c.2328G>T (p.Leu776=)
c.2286G>T (p.Leu762=)
c.1359G>T (p.Leu453=)
20g.63406920C=CA2374774305KCNQ2c.2397G= (p.Leu799=)
c.2343G= (p.Leu781=)
c.1740G= (p.Leu580=)
c.2250G= (p.Leu750=)
c.1911G= (p.Leu637=)
c.2259G= (p.Leu753=)
c.2241+126G= (n.2241+126G=)
c.2205+126G= (n.2205+126G=)
c.2289G= (p.Leu763=)
c.2133+126G= (n.2133+126G=)
c.1680-6077G= (n.1680-6077G=)
c.2385G= (p.Leu795=)
c.2451G= (p.Leu817=)
c.2448G= (p.Leu816=)
c.2421G= (p.Leu807=)
c.2367G= (p.Leu789=)
c.2340G= (p.Leu780=)
c.2325G= (p.Leu775=)
c.1932G= (p.Leu644=)
c.2394G= (p.Leu798=)
c.2331G= (p.Leu777=)
c.2328G= (p.Leu776=)
c.2286G= (p.Leu762=)
c.1359G= (p.Leu453=)
20g.63406920C>GCA511339278KCNQ2c.2397G>C (p.Leu799=)
c.2343G>C (p.Leu781=)
c.1740G>C (p.Leu580=)
c.2250G>C (p.Leu750=)
c.1911G>C (p.Leu637=)
c.2259G>C (p.Leu753=)
c.2241+126G>C (n.2241+126G>C)
c.2205+126G>C (n.2205+126G>C)
c.2289G>C (p.Leu763=)
c.2133+126G>C (n.2133+126G>C)
c.1680-6077G>C (n.1680-6077G>C)
c.2385G>C (p.Leu795=)
c.2451G>C (p.Leu817=)
c.2448G>C (p.Leu816=)
c.2421G>C (p.Leu807=)
c.2367G>C (p.Leu789=)
c.2340G>C (p.Leu780=)
c.2325G>C (p.Leu775=)
c.1932G>C (p.Leu644=)
c.2394G>C (p.Leu798=)
c.2331G>C (p.Leu777=)
c.2328G>C (p.Leu776=)
c.2286G>C (p.Leu762=)
c.1359G>C (p.Leu453=)
20g.63406920C>TCA9958095KCNQ2c.2397G>A (p.Leu799=)
c.2343G>A (p.Leu781=)
c.1740G>A (p.Leu580=)
c.2250G>A (p.Leu750=)
c.1911G>A (p.Leu637=)
c.2259G>A (p.Leu753=)
c.2241+126G>A (n.2241+126G>A)
c.2205+126G>A (n.2205+126G>A)
c.2289G>A (p.Leu763=)
c.2133+126G>A (n.2133+126G>A)
c.1680-6077G>A (n.1680-6077G>A)
c.2385G>A (p.Leu795=)
c.2451G>A (p.Leu817=)
c.2448G>A (p.Leu816=)
c.2421G>A (p.Leu807=)
c.2367G>A (p.Leu789=)
c.2340G>A (p.Leu780=)
c.2325G>A (p.Leu775=)
c.1932G>A (p.Leu644=)
c.2394G>A (p.Leu798=)
c.2331G>A (p.Leu777=)
c.2328G>A (p.Leu776=)
c.2286G>A (p.Leu762=)
c.1359G>A (p.Leu453=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406921A=CA2374774306KCNQ2c.2396T= (p.Leu799=)
c.2342T= (p.Leu781=)
c.1739T= (p.Leu580=)
c.2249T= (p.Leu750=)
c.1910T= (p.Leu637=)
c.2258T= (p.Leu753=)
c.2241+125T= (n.2241+125T=)
c.2205+125T= (n.2205+125T=)
c.2288T= (p.Leu763=)
c.2133+125T= (n.2133+125T=)
c.1680-6078T= (n.1680-6078T=)
c.2384T= (p.Leu795=)
c.2450T= (p.Leu817=)
c.2447T= (p.Leu816=)
c.2420T= (p.Leu807=)
c.2366T= (p.Leu789=)
c.2339T= (p.Leu780=)
c.2324T= (p.Leu775=)
c.1931T= (p.Leu644=)
c.2393T= (p.Leu798=)
c.2330T= (p.Leu777=)
c.2327T= (p.Leu776=)
c.2285T= (p.Leu762=)
c.1358T= (p.Leu453=)
20g.63406921A>CCA409637649KCNQ2c.2396T>G (p.Leu799Arg)
c.2342T>G (p.Leu781Arg)
c.1739T>G (p.Leu580Arg)
c.2249T>G (p.Leu750Arg)
c.1910T>G (p.Leu637Arg)
c.2258T>G (p.Leu753Arg)
c.2241+125T>G (n.2241+125T>G)
c.2205+125T>G (n.2205+125T>G)
c.2288T>G (p.Leu763Arg)
c.2133+125T>G (n.2133+125T>G)
c.1680-6078T>G (n.1680-6078T>G)
c.2384T>G (p.Leu795Arg)
c.2450T>G (p.Leu817Arg)
c.2447T>G (p.Leu816Arg)
c.2420T>G (p.Leu807Arg)
c.2366T>G (p.Leu789Arg)
c.2339T>G (p.Leu780Arg)
c.2324T>G (p.Leu775Arg)
c.1931T>G (p.Leu644Arg)
c.2393T>G (p.Leu798Arg)
c.2330T>G (p.Leu777Arg)
c.2327T>G (p.Leu776Arg)
c.2285T>G (p.Leu762Arg)
c.1358T>G (p.Leu453Arg)
20g.63406921A>GCA317421849KCNQ2c.2396T>C (p.Leu799Pro)
c.2342T>C (p.Leu781Pro)
c.1739T>C (p.Leu580Pro)
c.2249T>C (p.Leu750Pro)
c.1910T>C (p.Leu637Pro)
c.2258T>C (p.Leu753Pro)
c.2241+125T>C (n.2241+125T>C)
c.2205+125T>C (n.2205+125T>C)
c.2288T>C (p.Leu763Pro)
c.2133+125T>C (n.2133+125T>C)
c.1680-6078T>C (n.1680-6078T>C)
c.2384T>C (p.Leu795Pro)
c.2450T>C (p.Leu817Pro)
c.2447T>C (p.Leu816Pro)
c.2420T>C (p.Leu807Pro)
c.2366T>C (p.Leu789Pro)
c.2339T>C (p.Leu780Pro)
c.2324T>C (p.Leu775Pro)
c.1931T>C (p.Leu644Pro)
c.2393T>C (p.Leu798Pro)
c.2330T>C (p.Leu777Pro)
c.2327T>C (p.Leu776Pro)
c.2285T>C (p.Leu762Pro)
c.1358T>C (p.Leu453Pro)
 dbSNP gnomAD v3 gnomAD v4
20g.63406921A>TCA409637652KCNQ2c.2396T>A (p.Leu799Gln)
c.2342T>A (p.Leu781Gln)
c.1739T>A (p.Leu580Gln)
c.2249T>A (p.Leu750Gln)
c.1910T>A (p.Leu637Gln)
c.2258T>A (p.Leu753Gln)
c.2241+125T>A (n.2241+125T>A)
c.2205+125T>A (n.2205+125T>A)
c.2288T>A (p.Leu763Gln)
c.2133+125T>A (n.2133+125T>A)
c.1680-6078T>A (n.1680-6078T>A)
c.2384T>A (p.Leu795Gln)
c.2450T>A (p.Leu817Gln)
c.2447T>A (p.Leu816Gln)
c.2420T>A (p.Leu807Gln)
c.2366T>A (p.Leu789Gln)
c.2339T>A (p.Leu780Gln)
c.2324T>A (p.Leu775Gln)
c.1931T>A (p.Leu644Gln)
c.2393T>A (p.Leu798Gln)
c.2330T>A (p.Leu777Gln)
c.2327T>A (p.Leu776Gln)
c.2285T>A (p.Leu762Gln)
c.1358T>A (p.Leu453Gln)
 gnomAD v4
20g.63406922G>ACA511339280KCNQ2c.2395C>T (p.Leu799=)
c.2341C>T (p.Leu781=)
c.1738C>T (p.Leu580=)
c.2248C>T (p.Leu750=)
c.1909C>T (p.Leu637=)
c.2257C>T (p.Leu753=)
c.2241+124C>T (n.2241+124C>T)
c.2205+124C>T (n.2205+124C>T)
c.2287C>T (p.Leu763=)
c.2133+124C>T (n.2133+124C>T)
c.1680-6079C>T (n.1680-6079C>T)
c.2383C>T (p.Leu795=)
c.2449C>T (p.Leu817=)
c.2446C>T (p.Leu816=)
c.2419C>T (p.Leu807=)
c.2365C>T (p.Leu789=)
c.2338C>T (p.Leu780=)
c.2323C>T (p.Leu775=)
c.1930C>T (p.Leu644=)
c.2392C>T (p.Leu798=)
c.2329C>T (p.Leu777=)
c.2326C>T (p.Leu776=)
c.2284C>T (p.Leu762=)
c.1357C>T (p.Leu453=)
20g.63406922G>CCA409637659KCNQ2c.2395C>G (p.Leu799Val)
c.2341C>G (p.Leu781Val)
c.1738C>G (p.Leu580Val)
c.2248C>G (p.Leu750Val)
c.1909C>G (p.Leu637Val)
c.2257C>G (p.Leu753Val)
c.2241+124C>G (n.2241+124C>G)
c.2205+124C>G (n.2205+124C>G)
c.2287C>G (p.Leu763Val)
c.2133+124C>G (n.2133+124C>G)
c.1680-6079C>G (n.1680-6079C>G)
c.2383C>G (p.Leu795Val)
c.2449C>G (p.Leu817Val)
c.2446C>G (p.Leu816Val)
c.2419C>G (p.Leu807Val)
c.2365C>G (p.Leu789Val)
c.2338C>G (p.Leu780Val)
c.2323C>G (p.Leu775Val)
c.1930C>G (p.Leu644Val)
c.2392C>G (p.Leu798Val)
c.2329C>G (p.Leu777Val)
c.2326C>G (p.Leu776Val)
c.2284C>G (p.Leu762Val)
c.1357C>G (p.Leu453Val)
20g.63406922G>TCA409637656KCNQ2c.2395C>A (p.Leu799Met)
c.2341C>A (p.Leu781Met)
c.1738C>A (p.Leu580Met)
c.2248C>A (p.Leu750Met)
c.1909C>A (p.Leu637Met)
c.2257C>A (p.Leu753Met)
c.2241+124C>A (n.2241+124C>A)
c.2205+124C>A (n.2205+124C>A)
c.2287C>A (p.Leu763Met)
c.2133+124C>A (n.2133+124C>A)
c.1680-6079C>A (n.1680-6079C>A)
c.2383C>A (p.Leu795Met)
c.2449C>A (p.Leu817Met)
c.2446C>A (p.Leu816Met)
c.2419C>A (p.Leu807Met)
c.2365C>A (p.Leu789Met)
c.2338C>A (p.Leu780Met)
c.2323C>A (p.Leu775Met)
c.1930C>A (p.Leu644Met)
c.2392C>A (p.Leu798Met)
c.2329C>A (p.Leu777Met)
c.2326C>A (p.Leu776Met)
c.2284C>A (p.Leu762Met)
c.1357C>A (p.Leu453Met)
 gnomAD v4
20g.63406923G>ACA511339281KCNQ2c.2394C>T (p.Asn798=)
c.2340C>T (p.Asn780=)
c.1737C>T (p.Asn579=)
c.2247C>T (p.Asn749=)
c.1908C>T (p.Asn636=)
c.2256C>T (p.Asn752=)
c.2241+123C>T (n.2241+123C>T)
c.2205+123C>T (n.2205+123C>T)
c.2286C>T (p.Asn762=)
c.2133+123C>T (n.2133+123C>T)
c.1680-6080C>T (n.1680-6080C>T)
c.2382C>T (p.Asn794=)
c.2448C>T (p.Asn816=)
c.2445C>T (p.Asn815=)
c.2418C>T (p.Asn806=)
c.2364C>T (p.Asn788=)
c.2337C>T (p.Asn779=)
c.2322C>T (p.Asn774=)
c.1929C>T (p.Asn643=)
c.2391C>T (p.Asn797=)
c.2328C>T (p.Asn776=)
c.2325C>T (p.Asn775=)
c.2283C>T (p.Asn761=)
c.1356C>T (p.Asn452=)
 gnomAD v4
20g.63406923G>CCA409637662KCNQ2c.2394C>G (p.Asn798Lys)
c.2340C>G (p.Asn780Lys)
c.1737C>G (p.Asn579Lys)
c.2247C>G (p.Asn749Lys)
c.1908C>G (p.Asn636Lys)
c.2256C>G (p.Asn752Lys)
c.2241+123C>G (n.2241+123C>G)
c.2205+123C>G (n.2205+123C>G)
c.2286C>G (p.Asn762Lys)
c.2133+123C>G (n.2133+123C>G)
c.1680-6080C>G (n.1680-6080C>G)
c.2382C>G (p.Asn794Lys)
c.2448C>G (p.Asn816Lys)
c.2445C>G (p.Asn815Lys)
c.2418C>G (p.Asn806Lys)
c.2364C>G (p.Asn788Lys)
c.2337C>G (p.Asn779Lys)
c.2322C>G (p.Asn774Lys)
c.1929C>G (p.Asn643Lys)
c.2391C>G (p.Asn797Lys)
c.2328C>G (p.Asn776Lys)
c.2325C>G (p.Asn775Lys)
c.2283C>G (p.Asn761Lys)
c.1356C>G (p.Asn452Lys)
20g.63406923G>TCA409637665KCNQ2c.2394C>A (p.Asn798Lys)
c.2340C>A (p.Asn780Lys)
c.1737C>A (p.Asn579Lys)
c.2247C>A (p.Asn749Lys)
c.1908C>A (p.Asn636Lys)
c.2256C>A (p.Asn752Lys)
c.2241+123C>A (n.2241+123C>A)
c.2205+123C>A (n.2205+123C>A)
c.2286C>A (p.Asn762Lys)
c.2133+123C>A (n.2133+123C>A)
c.1680-6080C>A (n.1680-6080C>A)
c.2382C>A (p.Asn794Lys)
c.2448C>A (p.Asn816Lys)
c.2445C>A (p.Asn815Lys)
c.2418C>A (p.Asn806Lys)
c.2364C>A (p.Asn788Lys)
c.2337C>A (p.Asn779Lys)
c.2322C>A (p.Asn774Lys)
c.1929C>A (p.Asn643Lys)
c.2391C>A (p.Asn797Lys)
c.2328C>A (p.Asn776Lys)
c.2325C>A (p.Asn775Lys)
c.2283C>A (p.Asn761Lys)
c.1356C>A (p.Asn452Lys)
 gnomAD v4
20g.63406923_63406925delCA2816991441KCNQ2c.2392_2394del (p.Asn798del)
c.2338_2340del (p.Asn780del)
c.1735_1737del (p.Asn579del)
c.2245_2247del (p.Asn749del)
c.1906_1908del (p.Asn636del)
c.2254_2256del (p.Asn752del)
c.2241+121_2241+123del (n.2241+121_2241+123del)
c.2205+121_2205+123del (n.2205+121_2205+123del)
c.2284_2286del (p.Asn762del)
c.2133+121_2133+123del (n.2133+121_2133+123del)
c.1680-6082_1680-6080del (n.1680-6082_1680-6080del)
c.2380_2382del (p.Asn794del)
c.2446_2448del (p.Asn816del)
c.2443_2445del (p.Asn815del)
c.2416_2418del (p.Asn806del)
c.2362_2364del (p.Asn788del)
c.2335_2337del (p.Asn779del)
c.2320_2322del (p.Asn774del)
c.1927_1929del (p.Asn643del)
c.2389_2391del (p.Asn797del)
c.2326_2328del (p.Asn776del)
c.2323_2325del (p.Asn775del)
c.2281_2283del (p.Asn761del)
c.1354_1356del (p.Asn452del)
20g.63406924T>ACA409637668KCNQ2c.2393A>T (p.Asn798Ile)
c.2339A>T (p.Asn780Ile)
c.1736A>T (p.Asn579Ile)
c.2246A>T (p.Asn749Ile)
c.1907A>T (p.Asn636Ile)
c.2255A>T (p.Asn752Ile)
c.2241+122A>T (n.2241+122A>T)
c.2205+122A>T (n.2205+122A>T)
c.2285A>T (p.Asn762Ile)
c.2133+122A>T (n.2133+122A>T)
c.1680-6081A>T (n.1680-6081A>T)
c.2381A>T (p.Asn794Ile)
c.2447A>T (p.Asn816Ile)
c.2444A>T (p.Asn815Ile)
c.2417A>T (p.Asn806Ile)
c.2363A>T (p.Asn788Ile)
c.2336A>T (p.Asn779Ile)
c.2321A>T (p.Asn774Ile)
c.1928A>T (p.Asn643Ile)
c.2390A>T (p.Asn797Ile)
c.2327A>T (p.Asn776Ile)
c.2324A>T (p.Asn775Ile)
c.2282A>T (p.Asn761Ile)
c.1355A>T (p.Asn452Ile)
 gnomAD v4
20g.63406924T>CCA409637671KCNQ2c.2393A>G (p.Asn798Ser)
c.2339A>G (p.Asn780Ser)
c.1736A>G (p.Asn579Ser)
c.2246A>G (p.Asn749Ser)
c.1907A>G (p.Asn636Ser)
c.2255A>G (p.Asn752Ser)
c.2241+122A>G (n.2241+122A>G)
c.2205+122A>G (n.2205+122A>G)
c.2285A>G (p.Asn762Ser)
c.2133+122A>G (n.2133+122A>G)
c.1680-6081A>G (n.1680-6081A>G)
c.2381A>G (p.Asn794Ser)
c.2447A>G (p.Asn816Ser)
c.2444A>G (p.Asn815Ser)
c.2417A>G (p.Asn806Ser)
c.2363A>G (p.Asn788Ser)
c.2336A>G (p.Asn779Ser)
c.2321A>G (p.Asn774Ser)
c.1928A>G (p.Asn643Ser)
c.2390A>G (p.Asn797Ser)
c.2327A>G (p.Asn776Ser)
c.2324A>G (p.Asn775Ser)
c.2282A>G (p.Asn761Ser)
c.1355A>G (p.Asn452Ser)
 gnomAD v4
20g.63406924T>GCA285799KCNQ2c.2393A>C (p.Asn798Thr)
c.2339A>C (p.Asn780Thr)
c.1736A>C (p.Asn579Thr)
c.2246A>C (p.Asn749Thr)
c.1907A>C (p.Asn636Thr)
c.2255A>C (p.Asn752Thr)
c.2241+122A>C (n.2241+122A>C)
c.2205+122A>C (n.2205+122A>C)
c.2285A>C (p.Asn762Thr)
c.2133+122A>C (n.2133+122A>C)
c.1680-6081A>C (n.1680-6081A>C)
c.2381A>C (p.Asn794Thr)
c.2447A>C (p.Asn816Thr)
c.2444A>C (p.Asn815Thr)
c.2417A>C (p.Asn806Thr)
c.2363A>C (p.Asn788Thr)
c.2336A>C (p.Asn779Thr)
c.2321A>C (p.Asn774Thr)
c.1928A>C (p.Asn643Thr)
c.2390A>C (p.Asn797Thr)
c.2327A>C (p.Asn776Thr)
c.2324A>C (p.Asn775Thr)
c.2282A>C (p.Asn761Thr)
c.1355A>C (p.Asn452Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406924T=CA2374774307KCNQ2c.2393A= (p.Asn798=)
c.2339A= (p.Asn780=)
c.1736A= (p.Asn579=)
c.2246A= (p.Asn749=)
c.1907A= (p.Asn636=)
c.2255A= (p.Asn752=)
c.2241+122A= (n.2241+122A=)
c.2205+122A= (n.2205+122A=)
c.2285A= (p.Asn762=)
c.2133+122A= (n.2133+122A=)
c.1680-6081A= (n.1680-6081A=)
c.2381A= (p.Asn794=)
c.2447A= (p.Asn816=)
c.2444A= (p.Asn815=)
c.2417A= (p.Asn806=)
c.2363A= (p.Asn788=)
c.2336A= (p.Asn779=)
c.2321A= (p.Asn774=)
c.1928A= (p.Asn643=)
c.2390A= (p.Asn797=)
c.2327A= (p.Asn776=)
c.2324A= (p.Asn775=)
c.2282A= (p.Asn761=)
c.1355A= (p.Asn452=)
20g.63406925delCA2573157290KCNQ2c.2393del (p.Asn798ThrfsTer?)
c.2339del (p.Asn780ThrfsTer?)
c.1736del (p.Asn579ThrfsTer?)
c.2246del (p.Asn749ThrfsTer?)
c.1907del (p.Asn636ThrfsTer?)
c.2255del (p.Asn752ThrfsTer?)
c.2241+122del (n.2241+122del)
c.2205+122del (n.2205+122del)
c.2285del (p.Asn762ThrfsTer?)
c.2133+122del (n.2133+122del)
c.1680-6081del (n.1680-6081del)
c.2381del (p.Asn794ThrfsTer?)
c.2447del (p.Asn816ThrfsTer?)
c.2444del (p.Asn815ThrfsTer?)
c.2417del (p.Asn806ThrfsTer?)
c.2363del (p.Asn788ThrfsTer?)
c.2336del (p.Asn779ThrfsTer?)
c.2321del (p.Asn774ThrfsTer?)
c.1928del (p.Asn643ThrfsTer?)
c.2390del (p.Asn797ThrfsTer?)
c.2327del (p.Asn776ThrfsTer?)
c.2324del (p.Asn775ThrfsTer?)
c.2282del (p.Asn761ThrfsTer?)
c.1355del (p.Asn452ThrfsTer?)
 ClinVar dbSNP gnomAD v4
20g.63406925T>ACA409637676KCNQ2c.2392A>T (p.Asn798Tyr)
c.2338A>T (p.Asn780Tyr)
c.1735A>T (p.Asn579Tyr)
c.2245A>T (p.Asn749Tyr)
c.1906A>T (p.Asn636Tyr)
c.2254A>T (p.Asn752Tyr)
c.2241+121A>T (n.2241+121A>T)
c.2205+121A>T (n.2205+121A>T)
c.2284A>T (p.Asn762Tyr)
c.2133+121A>T (n.2133+121A>T)
c.1680-6082A>T (n.1680-6082A>T)
c.2380A>T (p.Asn794Tyr)
c.2446A>T (p.Asn816Tyr)
c.2443A>T (p.Asn815Tyr)
c.2416A>T (p.Asn806Tyr)
c.2362A>T (p.Asn788Tyr)
c.2335A>T (p.Asn779Tyr)
c.2320A>T (p.Asn774Tyr)
c.1927A>T (p.Asn643Tyr)
c.2389A>T (p.Asn797Tyr)
c.2326A>T (p.Asn776Tyr)
c.2323A>T (p.Asn775Tyr)
c.2281A>T (p.Asn761Tyr)
c.1354A>T (p.Asn452Tyr)
20g.63406925T>CCA409637678KCNQ2c.2392A>G (p.Asn798Asp)
c.2338A>G (p.Asn780Asp)
c.1735A>G (p.Asn579Asp)
c.2245A>G (p.Asn749Asp)
c.1906A>G (p.Asn636Asp)
c.2254A>G (p.Asn752Asp)
c.2241+121A>G (n.2241+121A>G)
c.2205+121A>G (n.2205+121A>G)
c.2284A>G (p.Asn762Asp)
c.2133+121A>G (n.2133+121A>G)
c.1680-6082A>G (n.1680-6082A>G)
c.2380A>G (p.Asn794Asp)
c.2446A>G (p.Asn816Asp)
c.2443A>G (p.Asn815Asp)
c.2416A>G (p.Asn806Asp)
c.2362A>G (p.Asn788Asp)
c.2335A>G (p.Asn779Asp)
c.2320A>G (p.Asn774Asp)
c.1927A>G (p.Asn643Asp)
c.2389A>G (p.Asn797Asp)
c.2326A>G (p.Asn776Asp)
c.2323A>G (p.Asn775Asp)
c.2281A>G (p.Asn761Asp)
c.1354A>G (p.Asn452Asp)
 gnomAD v4
20g.63406925T>GCA409637679KCNQ2c.2392A>C (p.Asn798His)
c.2338A>C (p.Asn780His)
c.1735A>C (p.Asn579His)
c.2245A>C (p.Asn749His)
c.1906A>C (p.Asn636His)
c.2254A>C (p.Asn752His)
c.2241+121A>C (n.2241+121A>C)
c.2205+121A>C (n.2205+121A>C)
c.2284A>C (p.Asn762His)
c.2133+121A>C (n.2133+121A>C)
c.1680-6082A>C (n.1680-6082A>C)
c.2380A>C (p.Asn794His)
c.2446A>C (p.Asn816His)
c.2443A>C (p.Asn815His)
c.2416A>C (p.Asn806His)
c.2362A>C (p.Asn788His)
c.2335A>C (p.Asn779His)
c.2320A>C (p.Asn774His)
c.1927A>C (p.Asn643His)
c.2389A>C (p.Asn797His)
c.2326A>C (p.Asn776His)
c.2323A>C (p.Asn775His)
c.2281A>C (p.Asn761His)
c.1354A>C (p.Asn452His)
 dbSNP gnomAD v2 gnomAD v4
20g.63406925T=CA2374774308KCNQ2c.2392A= (p.Asn798=)
c.2338A= (p.Asn780=)
c.1735A= (p.Asn579=)
c.2245A= (p.Asn749=)
c.1906A= (p.Asn636=)
c.2254A= (p.Asn752=)
c.2241+121A= (n.2241+121A=)
c.2205+121A= (n.2205+121A=)
c.2284A= (p.Asn762=)
c.2133+121A= (n.2133+121A=)
c.1680-6082A= (n.1680-6082A=)
c.2380A= (p.Asn794=)
c.2446A= (p.Asn816=)
c.2443A= (p.Asn815=)
c.2416A= (p.Asn806=)
c.2362A= (p.Asn788=)
c.2335A= (p.Asn779=)
c.2320A= (p.Asn774=)
c.1927A= (p.Asn643=)
c.2389A= (p.Asn797=)
c.2326A= (p.Asn776=)
c.2323A= (p.Asn775=)
c.2281A= (p.Asn761=)
c.1354A= (p.Asn452=)
20g.63406926C>ACA511339285KCNQ2c.2391G>T (p.Gly797=)
c.2337G>T (p.Gly779=)
c.1734G>T (p.Gly578=)
c.2244G>T (p.Gly748=)
c.1905G>T (p.Gly635=)
c.2253G>T (p.Gly751=)
c.2241+120G>T (n.2241+120G>T)
c.2205+120G>T (n.2205+120G>T)
c.2283G>T (p.Gly761=)
c.2133+120G>T (n.2133+120G>T)
c.1680-6083G>T (n.1680-6083G>T)
c.2379G>T (p.Gly793=)
c.2445G>T (p.Gly815=)
c.2442G>T (p.Gly814=)
c.2415G>T (p.Gly805=)
c.2361G>T (p.Gly787=)
c.2334G>T (p.Gly778=)
c.2319G>T (p.Gly773=)
c.1926G>T (p.Gly642=)
c.2388G>T (p.Gly796=)
c.2325G>T (p.Gly775=)
c.2322G>T (p.Gly774=)
c.2280G>T (p.Gly760=)
c.1353G>T (p.Gly451=)
20g.63406926C>GCA511339286KCNQ2c.2391G>C (p.Gly797=)
c.2337G>C (p.Gly779=)
c.1734G>C (p.Gly578=)
c.2244G>C (p.Gly748=)
c.1905G>C (p.Gly635=)
c.2253G>C (p.Gly751=)
c.2241+120G>C (n.2241+120G>C)
c.2205+120G>C (n.2205+120G>C)
c.2283G>C (p.Gly761=)
c.2133+120G>C (n.2133+120G>C)
c.1680-6083G>C (n.1680-6083G>C)
c.2379G>C (p.Gly793=)
c.2445G>C (p.Gly815=)
c.2442G>C (p.Gly814=)
c.2415G>C (p.Gly805=)
c.2361G>C (p.Gly787=)
c.2334G>C (p.Gly778=)
c.2319G>C (p.Gly773=)
c.1926G>C (p.Gly642=)
c.2388G>C (p.Gly796=)
c.2325G>C (p.Gly775=)
c.2322G>C (p.Gly774=)
c.2280G>C (p.Gly760=)
c.1353G>C (p.Gly451=)
20g.63406926C>TCA511339287KCNQ2c.2391G>A (p.Gly797=)
c.2337G>A (p.Gly779=)
c.1734G>A (p.Gly578=)
c.2244G>A (p.Gly748=)
c.1905G>A (p.Gly635=)
c.2253G>A (p.Gly751=)
c.2241+120G>A (n.2241+120G>A)
c.2205+120G>A (n.2205+120G>A)
c.2283G>A (p.Gly761=)
c.2133+120G>A (n.2133+120G>A)
c.1680-6083G>A (n.1680-6083G>A)
c.2379G>A (p.Gly793=)
c.2445G>A (p.Gly815=)
c.2442G>A (p.Gly814=)
c.2415G>A (p.Gly805=)
c.2361G>A (p.Gly787=)
c.2334G>A (p.Gly778=)
c.2319G>A (p.Gly773=)
c.1926G>A (p.Gly642=)
c.2388G>A (p.Gly796=)
c.2325G>A (p.Gly775=)
c.2322G>A (p.Gly774=)
c.2280G>A (p.Gly760=)
c.1353G>A (p.Gly451=)
 gnomAD v4 COSMIC COSMIC COSMIC
20g.63406926_63406927insGCGCA2816991449KCNQ2c.2390_2391insCGC (p.Gly797_Asn798insAla)
c.2336_2337insCGC (p.Gly779_Asn780insAla)
c.1733_1734insCGC (p.Gly578_Asn579insAla)
c.2243_2244insCGC (p.Gly748_Asn749insAla)
c.1904_1905insCGC (p.Gly635_Asn636insAla)
c.2252_2253insCGC (p.Gly751_Asn752insAla)
c.2241+119_2241+120insCGC (n.2241+119_2241+120insCGC)
c.2205+119_2205+120insCGC (n.2205+119_2205+120insCGC)
c.2282_2283insCGC (p.Gly761_Asn762insAla)
c.2133+119_2133+120insCGC (n.2133+119_2133+120insCGC)
c.1680-6084_1680-6083insCGC (n.1680-6084_1680-6083insCGC)
c.2378_2379insCGC (p.Gly793_Asn794insAla)
c.2444_2445insCGC (p.Gly815_Asn816insAla)
c.2441_2442insCGC (p.Gly814_Asn815insAla)
c.2414_2415insCGC (p.Gly805_Asn806insAla)
c.2360_2361insCGC (p.Gly787_Asn788insAla)
c.2333_2334insCGC (p.Gly778_Asn779insAla)
c.2318_2319insCGC (p.Gly773_Asn774insAla)
c.1925_1926insCGC (p.Gly642_Asn643insAla)
c.2387_2388insCGC (p.Gly796_Asn797insAla)
c.2324_2325insCGC (p.Gly775_Asn776insAla)
c.2321_2322insCGC (p.Gly774_Asn775insAla)
c.2279_2280insCGC (p.Gly760_Asn761insAla)
c.1352_1353insCGC (p.Gly451_Asn452insAla)
20g.63406927C>ACA409637683KCNQ2c.2390G>T (p.Gly797Val)
c.2336G>T (p.Gly779Val)
c.1733G>T (p.Gly578Val)
c.2243G>T (p.Gly748Val)
c.1904G>T (p.Gly635Val)
c.2252G>T (p.Gly751Val)
c.2241+119G>T (n.2241+119G>T)
c.2205+119G>T (n.2205+119G>T)
c.2282G>T (p.Gly761Val)
c.2133+119G>T (n.2133+119G>T)
c.1680-6084G>T (n.1680-6084G>T)
c.2378G>T (p.Gly793Val)
c.2444G>T (p.Gly815Val)
c.2441G>T (p.Gly814Val)
c.2414G>T (p.Gly805Val)
c.2360G>T (p.Gly787Val)
c.2333G>T (p.Gly778Val)
c.2318G>T (p.Gly773Val)
c.1925G>T (p.Gly642Val)
c.2387G>T (p.Gly796Val)
c.2324G>T (p.Gly775Val)
c.2321G>T (p.Gly774Val)
c.2279G>T (p.Gly760Val)
c.1352G>T (p.Gly451Val)
 dbSNP gnomAD v2
20g.63406927C=CA2374774309KCNQ2c.2390G= (p.Gly797=)
c.2336G= (p.Gly779=)
c.1733G= (p.Gly578=)
c.2243G= (p.Gly748=)
c.1904G= (p.Gly635=)
c.2252G= (p.Gly751=)
c.2241+119G= (n.2241+119G=)
c.2205+119G= (n.2205+119G=)
c.2282G= (p.Gly761=)
c.2133+119G= (n.2133+119G=)
c.1680-6084G= (n.1680-6084G=)
c.2378G= (p.Gly793=)
c.2444G= (p.Gly815=)
c.2441G= (p.Gly814=)
c.2414G= (p.Gly805=)
c.2360G= (p.Gly787=)
c.2333G= (p.Gly778=)
c.2318G= (p.Gly773=)
c.1925G= (p.Gly642=)
c.2387G= (p.Gly796=)
c.2324G= (p.Gly775=)
c.2321G= (p.Gly774=)
c.2279G= (p.Gly760=)
c.1352G= (p.Gly451=)
20g.63406927C>GCA409637685KCNQ2c.2390G>C (p.Gly797Ala)
c.2336G>C (p.Gly779Ala)
c.1733G>C (p.Gly578Ala)
c.2243G>C (p.Gly748Ala)
c.1904G>C (p.Gly635Ala)
c.2252G>C (p.Gly751Ala)
c.2241+119G>C (n.2241+119G>C)
c.2205+119G>C (n.2205+119G>C)
c.2282G>C (p.Gly761Ala)
c.2133+119G>C (n.2133+119G>C)
c.1680-6084G>C (n.1680-6084G>C)
c.2378G>C (p.Gly793Ala)
c.2444G>C (p.Gly815Ala)
c.2441G>C (p.Gly814Ala)
c.2414G>C (p.Gly805Ala)
c.2360G>C (p.Gly787Ala)
c.2333G>C (p.Gly778Ala)
c.2318G>C (p.Gly773Ala)
c.1925G>C (p.Gly642Ala)
c.2387G>C (p.Gly796Ala)
c.2324G>C (p.Gly775Ala)
c.2321G>C (p.Gly774Ala)
c.2279G>C (p.Gly760Ala)
c.1352G>C (p.Gly451Ala)
20g.63406927C>TCA317421851KCNQ2c.2390G>A (p.Gly797Glu)
c.2336G>A (p.Gly779Glu)
c.1733G>A (p.Gly578Glu)
c.2243G>A (p.Gly748Glu)
c.1904G>A (p.Gly635Glu)
c.2252G>A (p.Gly751Glu)
c.2241+119G>A (n.2241+119G>A)
c.2205+119G>A (n.2205+119G>A)
c.2282G>A (p.Gly761Glu)
c.2133+119G>A (n.2133+119G>A)
c.1680-6084G>A (n.1680-6084G>A)
c.2378G>A (p.Gly793Glu)
c.2444G>A (p.Gly815Glu)
c.2441G>A (p.Gly814Glu)
c.2414G>A (p.Gly805Glu)
c.2360G>A (p.Gly787Glu)
c.2333G>A (p.Gly778Glu)
c.2318G>A (p.Gly773Glu)
c.1925G>A (p.Gly642Glu)
c.2387G>A (p.Gly796Glu)
c.2324G>A (p.Gly775Glu)
c.2321G>A (p.Gly774Glu)
c.2279G>A (p.Gly760Glu)
c.1352G>A (p.Gly451Glu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
20g.63406928C>ACA409637694KCNQ2c.2389G>T (p.Gly797Trp)
c.2335G>T (p.Gly779Trp)
c.1732G>T (p.Gly578Trp)
c.2242G>T (p.Gly748Trp)
c.1903G>T (p.Gly635Trp)
c.2251G>T (p.Gly751Trp)
c.2241+118G>T (n.2241+118G>T)
c.2205+118G>T (n.2205+118G>T)
c.2281G>T (p.Gly761Trp)
c.2133+118G>T (n.2133+118G>T)
c.1680-6085G>T (n.1680-6085G>T)
c.2377G>T (p.Gly793Trp)
c.2443G>T (p.Gly815Trp)
c.2440G>T (p.Gly814Trp)
c.2413G>T (p.Gly805Trp)
c.2359G>T (p.Gly787Trp)
c.2332G>T (p.Gly778Trp)
c.2317G>T (p.Gly773Trp)
c.1924G>T (p.Gly642Trp)
c.2386G>T (p.Gly796Trp)
c.2323G>T (p.Gly775Trp)
c.2320G>T (p.Gly774Trp)
c.2278G>T (p.Gly760Trp)
c.1351G>T (p.Gly451Trp)
20g.63406928C=CA2374774310KCNQ2c.2389G= (p.Gly797=)
c.2335G= (p.Gly779=)
c.1732G= (p.Gly578=)
c.2242G= (p.Gly748=)
c.1903G= (p.Gly635=)
c.2251G= (p.Gly751=)
c.2241+118G= (n.2241+118G=)
c.2205+118G= (n.2205+118G=)
c.2281G= (p.Gly761=)
c.2133+118G= (n.2133+118G=)
c.1680-6085G= (n.1680-6085G=)
c.2377G= (p.Gly793=)
c.2443G= (p.Gly815=)
c.2440G= (p.Gly814=)
c.2413G= (p.Gly805=)
c.2359G= (p.Gly787=)
c.2332G= (p.Gly778=)
c.2317G= (p.Gly773=)
c.1924G= (p.Gly642=)
c.2386G= (p.Gly796=)
c.2323G= (p.Gly775=)
c.2320G= (p.Gly774=)
c.2278G= (p.Gly760=)
c.1351G= (p.Gly451=)
20g.63406928C>GCA409637692KCNQ2c.2389G>C (p.Gly797Arg)
c.2335G>C (p.Gly779Arg)
c.1732G>C (p.Gly578Arg)
c.2242G>C (p.Gly748Arg)
c.1903G>C (p.Gly635Arg)
c.2251G>C (p.Gly751Arg)
c.2241+118G>C (n.2241+118G>C)
c.2205+118G>C (n.2205+118G>C)
c.2281G>C (p.Gly761Arg)
c.2133+118G>C (n.2133+118G>C)
c.1680-6085G>C (n.1680-6085G>C)
c.2377G>C (p.Gly793Arg)
c.2443G>C (p.Gly815Arg)
c.2440G>C (p.Gly814Arg)
c.2413G>C (p.Gly805Arg)
c.2359G>C (p.Gly787Arg)
c.2332G>C (p.Gly778Arg)
c.2317G>C (p.Gly773Arg)
c.1924G>C (p.Gly642Arg)
c.2386G>C (p.Gly796Arg)
c.2323G>C (p.Gly775Arg)
c.2320G>C (p.Gly774Arg)
c.2278G>C (p.Gly760Arg)
c.1351G>C (p.Gly451Arg)
20g.63406928C>TCA409637689KCNQ2c.2389G>A (p.Gly797Arg)
c.2335G>A (p.Gly779Arg)
c.1732G>A (p.Gly578Arg)
c.2242G>A (p.Gly748Arg)
c.1903G>A (p.Gly635Arg)
c.2251G>A (p.Gly751Arg)
c.2241+118G>A (n.2241+118G>A)
c.2205+118G>A (n.2205+118G>A)
c.2281G>A (p.Gly761Arg)
c.2133+118G>A (n.2133+118G>A)
c.1680-6085G>A (n.1680-6085G>A)
c.2377G>A (p.Gly793Arg)
c.2443G>A (p.Gly815Arg)
c.2440G>A (p.Gly814Arg)
c.2413G>A (p.Gly805Arg)
c.2359G>A (p.Gly787Arg)
c.2332G>A (p.Gly778Arg)
c.2317G>A (p.Gly773Arg)
c.1924G>A (p.Gly642Arg)
c.2386G>A (p.Gly796Arg)
c.2323G>A (p.Gly775Arg)
c.2320G>A (p.Gly774Arg)
c.2278G>A (p.Gly760Arg)
c.1351G>A (p.Gly451Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63406929C>ACA409637698KCNQ2c.2388G>T (p.Glu796Asp)
c.2334G>T (p.Glu778Asp)
c.1731G>T (p.Glu577Asp)
c.2241G>T (p.Glu747Asp)
c.1902G>T (p.Glu634Asp)
c.2250G>T (p.Glu750Asp)
c.2241+117G>T (n.2241+117G>T)
c.2205+117G>T (n.2205+117G>T)
c.2280G>T (p.Glu760Asp)
c.2133+117G>T (n.2133+117G>T)
c.1680-6086G>T (n.1680-6086G>T)
c.2376G>T (p.Glu792Asp)
c.2442G>T (p.Glu814Asp)
c.2439G>T (p.Glu813Asp)
c.2412G>T (p.Glu804Asp)
c.2358G>T (p.Glu786Asp)
c.2331G>T (p.Glu777Asp)
c.2316G>T (p.Glu772Asp)
c.1923G>T (p.Glu641Asp)
c.2385G>T (p.Glu795Asp)
c.2322G>T (p.Glu774Asp)
c.2319G>T (p.Glu773Asp)
c.2277G>T (p.Glu759Asp)
c.1350G>T (p.Glu450Asp)
 gnomAD v4
20g.63406929C=CA2374774311KCNQ2c.2388G= (p.Glu796=)
c.2334G= (p.Glu778=)
c.1731G= (p.Glu577=)
c.2241G= (p.Glu747=)
c.1902G= (p.Glu634=)
c.2250G= (p.Glu750=)
c.2241+117G= (n.2241+117G=)
c.2205+117G= (n.2205+117G=)
c.2280G= (p.Glu760=)
c.2133+117G= (n.2133+117G=)
c.1680-6086G= (n.1680-6086G=)
c.2376G= (p.Glu792=)
c.2442G= (p.Glu814=)
c.2439G= (p.Glu813=)
c.2412G= (p.Glu804=)
c.2358G= (p.Glu786=)
c.2331G= (p.Glu777=)
c.2316G= (p.Glu772=)
c.1923G= (p.Glu641=)
c.2385G= (p.Glu795=)
c.2322G= (p.Glu774=)
c.2319G= (p.Glu773=)
c.2277G= (p.Glu759=)
c.1350G= (p.Glu450=)
20g.63406929C>GCA409637701KCNQ2c.2388G>C (p.Glu796Asp)
c.2334G>C (p.Glu778Asp)
c.1731G>C (p.Glu577Asp)
c.2241G>C (p.Glu747Asp)
c.1902G>C (p.Glu634Asp)
c.2250G>C (p.Glu750Asp)
c.2241+117G>C (n.2241+117G>C)
c.2205+117G>C (n.2205+117G>C)
c.2280G>C (p.Glu760Asp)
c.2133+117G>C (n.2133+117G>C)
c.1680-6086G>C (n.1680-6086G>C)
c.2376G>C (p.Glu792Asp)
c.2442G>C (p.Glu814Asp)
c.2439G>C (p.Glu813Asp)
c.2412G>C (p.Glu804Asp)
c.2358G>C (p.Glu786Asp)
c.2331G>C (p.Glu777Asp)
c.2316G>C (p.Glu772Asp)
c.1923G>C (p.Glu641Asp)
c.2385G>C (p.Glu795Asp)
c.2322G>C (p.Glu774Asp)
c.2319G>C (p.Glu773Asp)
c.2277G>C (p.Glu759Asp)
c.1350G>C (p.Glu450Asp)
20g.63406929C>TCA511339293KCNQ2c.2388G>A (p.Glu796=)
c.2334G>A (p.Glu778=)
c.1731G>A (p.Glu577=)
c.2241G>A (p.Glu747=)
c.1902G>A (p.Glu634=)
c.2250G>A (p.Glu750=)
c.2241+117G>A (n.2241+117G>A)
c.2205+117G>A (n.2205+117G>A)
c.2280G>A (p.Glu760=)
c.2133+117G>A (n.2133+117G>A)
c.1680-6086G>A (n.1680-6086G>A)
c.2376G>A (p.Glu792=)
c.2442G>A (p.Glu814=)
c.2439G>A (p.Glu813=)
c.2412G>A (p.Glu804=)
c.2358G>A (p.Glu786=)
c.2331G>A (p.Glu777=)
c.2316G>A (p.Glu772=)
c.1923G>A (p.Glu641=)
c.2385G>A (p.Glu795=)
c.2322G>A (p.Glu774=)
c.2319G>A (p.Glu773=)
c.2277G>A (p.Glu759=)
c.1350G>A (p.Glu450=)
 dbSNP gnomAD v2 gnomAD v4
20g.63406930T>ACA9958096KCNQ2c.2387A>T (p.Glu796Val)
c.2333A>T (p.Glu778Val)
c.1730A>T (p.Glu577Val)
c.2240A>T (p.Glu747Val)
c.1901A>T (p.Glu634Val)
c.2249A>T (p.Glu750Val)
c.2241+116A>T (n.2241+116A>T)
c.2205+116A>T (n.2205+116A>T)
c.2279A>T (p.Glu760Val)
c.2133+116A>T (n.2133+116A>T)
c.1680-6087A>T (n.1680-6087A>T)
c.2375A>T (p.Glu792Val)
c.2441A>T (p.Glu814Val)
c.2438A>T (p.Glu813Val)
c.2411A>T (p.Glu804Val)
c.2357A>T (p.Glu786Val)
c.2330A>T (p.Glu777Val)
c.2315A>T (p.Glu772Val)
c.1922A>T (p.Glu641Val)
c.2384A>T (p.Glu795Val)
c.2321A>T (p.Glu774Val)
c.2318A>T (p.Glu773Val)
c.2276A>T (p.Glu759Val)
c.1349A>T (p.Glu450Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406930T>CCA409637707KCNQ2c.2387A>G (p.Glu796Gly)
c.2333A>G (p.Glu778Gly)
c.1730A>G (p.Glu577Gly)
c.2240A>G (p.Glu747Gly)
c.1901A>G (p.Glu634Gly)
c.2249A>G (p.Glu750Gly)
c.2241+116A>G (n.2241+116A>G)
c.2205+116A>G (n.2205+116A>G)
c.2279A>G (p.Glu760Gly)
c.2133+116A>G (n.2133+116A>G)
c.1680-6087A>G (n.1680-6087A>G)
c.2375A>G (p.Glu792Gly)
c.2441A>G (p.Glu814Gly)
c.2438A>G (p.Glu813Gly)
c.2411A>G (p.Glu804Gly)
c.2357A>G (p.Glu786Gly)
c.2330A>G (p.Glu777Gly)
c.2315A>G (p.Glu772Gly)
c.1922A>G (p.Glu641Gly)
c.2384A>G (p.Glu795Gly)
c.2321A>G (p.Glu774Gly)
c.2318A>G (p.Glu773Gly)
c.2276A>G (p.Glu759Gly)
c.1349A>G (p.Glu450Gly)
 gnomAD v4
20g.63406930T>GCA409637709KCNQ2c.2387A>C (p.Glu796Ala)
c.2333A>C (p.Glu778Ala)
c.1730A>C (p.Glu577Ala)
c.2240A>C (p.Glu747Ala)
c.1901A>C (p.Glu634Ala)
c.2249A>C (p.Glu750Ala)
c.2241+116A>C (n.2241+116A>C)
c.2205+116A>C (n.2205+116A>C)
c.2279A>C (p.Glu760Ala)
c.2133+116A>C (n.2133+116A>C)
c.1680-6087A>C (n.1680-6087A>C)
c.2375A>C (p.Glu792Ala)
c.2441A>C (p.Glu814Ala)
c.2438A>C (p.Glu813Ala)
c.2411A>C (p.Glu804Ala)
c.2357A>C (p.Glu786Ala)
c.2330A>C (p.Glu777Ala)
c.2315A>C (p.Glu772Ala)
c.1922A>C (p.Glu641Ala)
c.2384A>C (p.Glu795Ala)
c.2321A>C (p.Glu774Ala)
c.2318A>C (p.Glu773Ala)
c.2276A>C (p.Glu759Ala)
c.1349A>C (p.Glu450Ala)
20g.63406930T=CA2374774312KCNQ2c.2387A= (p.Glu796=)
c.2333A= (p.Glu778=)
c.1730A= (p.Glu577=)
c.2240A= (p.Glu747=)
c.1901A= (p.Glu634=)
c.2249A= (p.Glu750=)
c.2241+116A= (n.2241+116A=)
c.2205+116A= (n.2205+116A=)
c.2279A= (p.Glu760=)
c.2133+116A= (n.2133+116A=)
c.1680-6087A= (n.1680-6087A=)
c.2375A= (p.Glu792=)
c.2441A= (p.Glu814=)
c.2438A= (p.Glu813=)
c.2411A= (p.Glu804=)
c.2357A= (p.Glu786=)
c.2330A= (p.Glu777=)
c.2315A= (p.Glu772=)
c.1922A= (p.Glu641=)
c.2384A= (p.Glu795=)
c.2321A= (p.Glu774=)
c.2318A= (p.Glu773=)
c.2276A= (p.Glu759=)
c.1349A= (p.Glu450=)
20g.63406931C>ACA409637718KCNQ2c.2386G>T (p.Glu796Ter)
c.2332G>T (p.Glu778Ter)
c.1729G>T (p.Glu577Ter)
c.2239G>T (p.Glu747Ter)
c.1900G>T (p.Glu634Ter)
c.2248G>T (p.Glu750Ter)
c.2241+115G>T (n.2241+115G>T)
c.2205+115G>T (n.2205+115G>T)
c.2278G>T (p.Glu760Ter)
c.2133+115G>T (n.2133+115G>T)
c.1680-6088G>T (n.1680-6088G>T)
c.2374G>T (p.Glu792Ter)
c.2440G>T (p.Glu814Ter)
c.2437G>T (p.Glu813Ter)
c.2410G>T (p.Glu804Ter)
c.2356G>T (p.Glu786Ter)
c.2329G>T (p.Glu777Ter)
c.2314G>T (p.Glu772Ter)
c.1921G>T (p.Glu641Ter)
c.2383G>T (p.Glu795Ter)
c.2320G>T (p.Glu774Ter)
c.2317G>T (p.Glu773Ter)
c.2275G>T (p.Glu759Ter)
c.1348G>T (p.Glu450Ter)
 gnomAD v4
20g.63406931C=CA2374774313KCNQ2c.2386G= (p.Glu796=)
c.2332G= (p.Glu778=)
c.1729G= (p.Glu577=)
c.2239G= (p.Glu747=)
c.1900G= (p.Glu634=)
c.2248G= (p.Glu750=)
c.2241+115G= (n.2241+115G=)
c.2205+115G= (n.2205+115G=)
c.2278G= (p.Glu760=)
c.2133+115G= (n.2133+115G=)
c.1680-6088G= (n.1680-6088G=)
c.2374G= (p.Glu792=)
c.2440G= (p.Glu814=)
c.2437G= (p.Glu813=)
c.2410G= (p.Glu804=)
c.2356G= (p.Glu786=)
c.2329G= (p.Glu777=)
c.2314G= (p.Glu772=)
c.1921G= (p.Glu641=)
c.2383G= (p.Glu795=)
c.2320G= (p.Glu774=)
c.2317G= (p.Glu773=)
c.2275G= (p.Glu759=)
c.1348G= (p.Glu450=)
20g.63406931C>GCA409637717KCNQ2c.2386G>C (p.Glu796Gln)
c.2332G>C (p.Glu778Gln)
c.1729G>C (p.Glu577Gln)
c.2239G>C (p.Glu747Gln)
c.1900G>C (p.Glu634Gln)
c.2248G>C (p.Glu750Gln)
c.2241+115G>C (n.2241+115G>C)
c.2205+115G>C (n.2205+115G>C)
c.2278G>C (p.Glu760Gln)
c.2133+115G>C (n.2133+115G>C)
c.1680-6088G>C (n.1680-6088G>C)
c.2374G>C (p.Glu792Gln)
c.2440G>C (p.Glu814Gln)
c.2437G>C (p.Glu813Gln)
c.2410G>C (p.Glu804Gln)
c.2356G>C (p.Glu786Gln)
c.2329G>C (p.Glu777Gln)
c.2314G>C (p.Glu772Gln)
c.1921G>C (p.Glu641Gln)
c.2383G>C (p.Glu795Gln)
c.2320G>C (p.Glu774Gln)
c.2317G>C (p.Glu773Gln)
c.2275G>C (p.Glu759Gln)
c.1348G>C (p.Glu450Gln)
20g.63406931C>TCA409637713KCNQ2c.2386G>A (p.Glu796Lys)
c.2332G>A (p.Glu778Lys)
c.1729G>A (p.Glu577Lys)
c.2239G>A (p.Glu747Lys)
c.1900G>A (p.Glu634Lys)
c.2248G>A (p.Glu750Lys)
c.2241+115G>A (n.2241+115G>A)
c.2205+115G>A (n.2205+115G>A)
c.2278G>A (p.Glu760Lys)
c.2133+115G>A (n.2133+115G>A)
c.1680-6088G>A (n.1680-6088G>A)
c.2374G>A (p.Glu792Lys)
c.2440G>A (p.Glu814Lys)
c.2437G>A (p.Glu813Lys)
c.2410G>A (p.Glu804Lys)
c.2356G>A (p.Glu786Lys)
c.2329G>A (p.Glu777Lys)
c.2314G>A (p.Glu772Lys)
c.1921G>A (p.Glu641Lys)
c.2383G>A (p.Glu795Lys)
c.2320G>A (p.Glu774Lys)
c.2317G>A (p.Glu773Lys)
c.2275G>A (p.Glu759Lys)
c.1348G>A (p.Glu450Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63406932G>ACA16609050KCNQ2c.2385C>T (p.Pro795=)
c.2331C>T (p.Pro777=)
c.1728C>T (p.Pro576=)
c.2238C>T (p.Pro746=)
c.1899C>T (p.Pro633=)
c.2247C>T (p.Pro749=)
c.2241+114C>T (n.2241+114C>T)
c.2205+114C>T (n.2205+114C>T)
c.2277C>T (p.Pro759=)
c.2133+114C>T (n.2133+114C>T)
c.1680-6089C>T (n.1680-6089C>T)
c.2373C>T (p.Pro791=)
c.2439C>T (p.Pro813=)
c.2436C>T (p.Pro812=)
c.2409C>T (p.Pro803=)
c.2355C>T (p.Pro785=)
c.2328C>T (p.Pro776=)
c.2313C>T (p.Pro771=)
c.1920C>T (p.Pro640=)
c.2382C>T (p.Pro794=)
c.2319C>T (p.Pro773=)
c.2316C>T (p.Pro772=)
c.2274C>T (p.Pro758=)
c.1347C>T (p.Pro449=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.63406932G>CCA511339296KCNQ2c.2385C>G (p.Pro795=)
c.2331C>G (p.Pro777=)
c.1728C>G (p.Pro576=)
c.2238C>G (p.Pro746=)
c.1899C>G (p.Pro633=)
c.2247C>G (p.Pro749=)
c.2241+114C>G (n.2241+114C>G)
c.2205+114C>G (n.2205+114C>G)
c.2277C>G (p.Pro759=)
c.2133+114C>G (n.2133+114C>G)
c.1680-6089C>G (n.1680-6089C>G)
c.2373C>G (p.Pro791=)
c.2439C>G (p.Pro813=)
c.2436C>G (p.Pro812=)
c.2409C>G (p.Pro803=)
c.2355C>G (p.Pro785=)
c.2328C>G (p.Pro776=)
c.2313C>G (p.Pro771=)
c.1920C>G (p.Pro640=)
c.2382C>G (p.Pro794=)
c.2319C>G (p.Pro773=)
c.2316C>G (p.Pro772=)
c.2274C>G (p.Pro758=)
c.1347C>G (p.Pro449=)
 gnomAD v4
20g.63406932G=CA2374774314KCNQ2c.2385C= (p.Pro795=)
c.2331C= (p.Pro777=)
c.1728C= (p.Pro576=)
c.2238C= (p.Pro746=)
c.1899C= (p.Pro633=)
c.2247C= (p.Pro749=)
c.2241+114C= (n.2241+114C=)
c.2205+114C= (n.2205+114C=)
c.2277C= (p.Pro759=)
c.2133+114C= (n.2133+114C=)
c.1680-6089C= (n.1680-6089C=)
c.2373C= (p.Pro791=)
c.2439C= (p.Pro813=)
c.2436C= (p.Pro812=)
c.2409C= (p.Pro803=)
c.2355C= (p.Pro785=)
c.2328C= (p.Pro776=)
c.2313C= (p.Pro771=)
c.1920C= (p.Pro640=)
c.2382C= (p.Pro794=)
c.2319C= (p.Pro773=)
c.2316C= (p.Pro772=)
c.2274C= (p.Pro758=)
c.1347C= (p.Pro449=)
20g.63406932G>TCA511339297KCNQ2c.2385C>A (p.Pro795=)
c.2331C>A (p.Pro777=)
c.1728C>A (p.Pro576=)
c.2238C>A (p.Pro746=)
c.1899C>A (p.Pro633=)
c.2247C>A (p.Pro749=)
c.2241+114C>A (n.2241+114C>A)
c.2205+114C>A (n.2205+114C>A)
c.2277C>A (p.Pro759=)
c.2133+114C>A (n.2133+114C>A)
c.1680-6089C>A (n.1680-6089C>A)
c.2373C>A (p.Pro791=)
c.2439C>A (p.Pro813=)
c.2436C>A (p.Pro812=)
c.2409C>A (p.Pro803=)
c.2355C>A (p.Pro785=)
c.2328C>A (p.Pro776=)
c.2313C>A (p.Pro771=)
c.1920C>A (p.Pro640=)
c.2382C>A (p.Pro794=)
c.2319C>A (p.Pro773=)
c.2316C>A (p.Pro772=)
c.2274C>A (p.Pro758=)
c.1347C>A (p.Pro449=)
 gnomAD v4 COSMIC COSMIC COSMIC
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=)

Number of alleles fetched