Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
20	g.63406889_63407267del	CA2739277253	KCNQ2	c.2053_2431del (p.Ala685TrpfsTer?) c.1999_2377del (p.Ala667TrpfsTer?) c.1396_1774del (p.Ala466TrpfsTer?) c.1906_2284del (p.Ala636TrpfsTer?) c.1567_1945del (p.Ala523TrpfsTer?) c.1915_2293del (p.Ala639TrpfsTer?) c.2023_2241+160del c.1987_2205+160del c.1945_2323del (p.Ala649TrpfsTer?) c.1915_2133+160del c.1679+6186_1680-6043del (n.1679+6186_1680-6043del) c.2041_2419del (p.Ala681TrpfsTer?) c.2107_2485del (p.Ala703TrpfsTer?) c.2104_2482del (p.Ala702TrpfsTer?) c.2077_2455del (p.Ala693TrpfsTer?) c.2023_2401del (p.Ala675TrpfsTer?) c.1996_2374del (p.Ala666TrpfsTer?) c.1981_2359del (p.Ala661TrpfsTer?) c.1588_1966del (p.Ala530TrpfsTer?) c.2050_2428del (p.Ala684TrpfsTer?) c.1987_2365del (p.Ala663TrpfsTer?) c.1984_2362del (p.Ala662TrpfsTer?) c.1942_2320del (p.Ala648TrpfsTer?) c.1015_1393del (p.Ala339TrpfsTer?)	ClinVar
20	g.63406976_63406991delinsTGCTGGCGCGGTTGCC	CA2374774342	KCNQ2	c.2326_2341delinsGGCAACCGCGCCAGCA (p.Gly776=) c.2272_2287delinsGGCAACCGCGCCAGCA (p.Gly758=) c.1669_1684delinsGGCAACCGCGCCAGCA (p.Gly557=) c.2179_2194delinsGGCAACCGCGCCAGCA (p.Gly727=) c.1840_1855delinsGGCAACCGCGCCAGCA (p.Gly614=) c.2188_2203delinsGGCAACCGCGCCAGCA (p.Gly730=) c.2241+55_2241+70delinsGGCAACCGCGCCAGCA (n.2241+55_2241+70delinsGGCAACCGCGCCAGCA) c.2205+55_2205+70delinsGGCAACCGCGCCAGCA (n.2205+55_2205+70delinsGGCAACCGCGCCAGCA) c.2218_2233delinsGGCAACCGCGCCAGCA (p.Gly740=) c.2133+55_2133+70delinsGGCAACCGCGCCAGCA (n.2133+55_2133+70delinsGGCAACCGCGCCAGCA) c.1680-6148_1680-6133delinsGGCAACCGCGCCAGCA (n.1680-6148_1680-6133delinsGGCAACCGCGCCAGCA) c.2314_2329delinsGGCAACCGCGCCAGCA (p.Gly772=) c.2380_2395delinsGGCAACCGCGCCAGCA (p.Gly794=) c.2377_2392delinsGGCAACCGCGCCAGCA (p.Gly793=) c.2350_2365delinsGGCAACCGCGCCAGCA (p.Gly784=) c.2296_2311delinsGGCAACCGCGCCAGCA (p.Gly766=) c.2269_2284delinsGGCAACCGCGCCAGCA (p.Gly757=) c.2254_2269delinsGGCAACCGCGCCAGCA (p.Gly752=) c.1861_1876delinsGGCAACCGCGCCAGCA (p.Gly621=) c.2323_2338delinsGGCAACCGCGCCAGCA (p.Gly775=) c.2260_2275delinsGGCAACCGCGCCAGCA (p.Gly754=) c.2257_2272delinsGGCAACCGCGCCAGCA (p.Gly753=) c.2215_2230delinsGGCAACCGCGCCAGCA (p.Gly739=) c.1288_1303delinsGGCAACCGCGCCAGCA (p.Gly430=)
20	g.63406977_63406991del	CA1139666804	KCNQ2	c.2326_2340del (p.Gly776_Ser780del) c.2272_2286del (p.Gly758_Ser762del) c.1669_1683del (p.Gly557_Ser561del) c.2179_2193del (p.Gly727_Ser731del) c.1840_1854del (p.Gly614_Ser618del) c.2188_2202del (p.Gly730_Ser734del) c.2241+55_2241+69del (n.2241+55_2241+69del) c.2205+55_2205+69del (n.2205+55_2205+69del) c.2218_2232del (p.Gly740_Ser744del) c.2133+55_2133+69del (n.2133+55_2133+69del) c.1680-6148_1680-6134del (n.1680-6148_1680-6134del) c.2314_2328del (p.Gly772_Ser776del) c.2380_2394del (p.Gly794_Ser798del) c.2377_2391del (p.Gly793_Ser797del) c.2350_2364del (p.Gly784_Ser788del) c.2296_2310del (p.Gly766_Ser770del) c.2269_2283del (p.Gly757_Ser761del) c.2254_2268del (p.Gly752_Ser756del) c.1861_1875del (p.Gly621_Ser625del) c.2323_2337del (p.Gly775_Ser779del) c.2260_2274del (p.Gly754_Ser758del) c.2257_2271del (p.Gly753_Ser757del) c.2215_2229del (p.Gly739_Ser743del) c.1288_1302del (p.Gly430_Ser434del)	ClinVar dbSNP
20	g.63406981G>A	CA409638033	KCNQ2	c.2336C>T (p.Ala779Val) c.2282C>T (p.Ala761Val) c.1679C>T (p.Ala560Val) c.2189C>T (p.Ala730Val) c.1850C>T (p.Ala617Val) c.2198C>T (p.Ala733Val) c.2241+65C>T (n.2241+65C>T) c.2205+65C>T (n.2205+65C>T) c.2228C>T (p.Ala743Val) c.2133+65C>T (n.2133+65C>T) c.1680-6138C>T (n.1680-6138C>T) c.2324C>T (p.Ala775Val) c.2390C>T (p.Ala797Val) c.2387C>T (p.Ala796Val) c.2360C>T (p.Ala787Val) c.2306C>T (p.Ala769Val) c.2279C>T (p.Ala760Val) c.2264C>T (p.Ala755Val) c.1871C>T (p.Ala624Val) c.2333C>T (p.Ala778Val) c.2270C>T (p.Ala757Val) c.2267C>T (p.Ala756Val) c.2225C>T (p.Ala742Val) c.1298C>T (p.Ala433Val)	gnomAD v4
20	g.63406981G>C	CA409638035	KCNQ2	c.2336C>G (p.Ala779Gly) c.2282C>G (p.Ala761Gly) c.1679C>G (p.Ala560Gly) c.2189C>G (p.Ala730Gly) c.1850C>G (p.Ala617Gly) c.2198C>G (p.Ala733Gly) c.2241+65C>G (n.2241+65C>G) c.2205+65C>G (n.2205+65C>G) c.2228C>G (p.Ala743Gly) c.2133+65C>G (n.2133+65C>G) c.1680-6138C>G (n.1680-6138C>G) c.2324C>G (p.Ala775Gly) c.2390C>G (p.Ala797Gly) c.2387C>G (p.Ala796Gly) c.2360C>G (p.Ala787Gly) c.2306C>G (p.Ala769Gly) c.2279C>G (p.Ala760Gly) c.2264C>G (p.Ala755Gly) c.1871C>G (p.Ala624Gly) c.2333C>G (p.Ala778Gly) c.2270C>G (p.Ala757Gly) c.2267C>G (p.Ala756Gly) c.2225C>G (p.Ala742Gly) c.1298C>G (p.Ala433Gly)
20	g.63406981G>T	CA409638042	KCNQ2	c.2336C>A (p.Ala779Asp) c.2282C>A (p.Ala761Asp) c.1679C>A (p.Ala560Asp) c.2189C>A (p.Ala730Asp) c.1850C>A (p.Ala617Asp) c.2198C>A (p.Ala733Asp) c.2241+65C>A (n.2241+65C>A) c.2205+65C>A (n.2205+65C>A) c.2228C>A (p.Ala743Asp) c.2133+65C>A (n.2133+65C>A) c.1680-6138C>A (n.1680-6138C>A) c.2324C>A (p.Ala775Asp) c.2390C>A (p.Ala797Asp) c.2387C>A (p.Ala796Asp) c.2360C>A (p.Ala787Asp) c.2306C>A (p.Ala769Asp) c.2279C>A (p.Ala760Asp) c.2264C>A (p.Ala755Asp) c.1871C>A (p.Ala624Asp) c.2333C>A (p.Ala778Asp) c.2270C>A (p.Ala757Asp) c.2267C>A (p.Ala756Asp) c.2225C>A (p.Ala742Asp) c.1298C>A (p.Ala433Asp)
20	g.63406982C>A	CA9958107	KCNQ2	c.2335G>T (p.Ala779Ser) c.2281G>T (p.Ala761Ser) c.1678G>T (p.Ala560Ser) c.2188G>T (p.Ala730Ser) c.1849G>T (p.Ala617Ser) c.2197G>T (p.Ala733Ser) c.2241+64G>T (n.2241+64G>T) c.2205+64G>T (n.2205+64G>T) c.2227G>T (p.Ala743Ser) c.2133+64G>T (n.2133+64G>T) c.1680-6139G>T (n.1680-6139G>T) c.2323G>T (p.Ala775Ser) c.2389G>T (p.Ala797Ser) c.2386G>T (p.Ala796Ser) c.2359G>T (p.Ala787Ser) c.2305G>T (p.Ala769Ser) c.2278G>T (p.Ala760Ser) c.2263G>T (p.Ala755Ser) c.1870G>T (p.Ala624Ser) c.2332G>T (p.Ala778Ser) c.2269G>T (p.Ala757Ser) c.2266G>T (p.Ala756Ser) c.2224G>T (p.Ala742Ser) c.1297G>T (p.Ala433Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406982C=	CA2374774346	KCNQ2	c.2335G= (p.Ala779=) c.2281G= (p.Ala761=) c.1678G= (p.Ala560=) c.2188G= (p.Ala730=) c.1849G= (p.Ala617=) c.2197G= (p.Ala733=) c.2241+64G= (n.2241+64G=) c.2205+64G= (n.2205+64G=) c.2227G= (p.Ala743=) c.2133+64G= (n.2133+64G=) c.1680-6139G= (n.1680-6139G=) c.2323G= (p.Ala775=) c.2389G= (p.Ala797=) c.2386G= (p.Ala796=) c.2359G= (p.Ala787=) c.2305G= (p.Ala769=) c.2278G= (p.Ala760=) c.2263G= (p.Ala755=) c.1870G= (p.Ala624=) c.2332G= (p.Ala778=) c.2269G= (p.Ala757=) c.2266G= (p.Ala756=) c.2224G= (p.Ala742=) c.1297G= (p.Ala433=)
20	g.63406982C>G	CA409638044	KCNQ2	c.2335G>C (p.Ala779Pro) c.2281G>C (p.Ala761Pro) c.1678G>C (p.Ala560Pro) c.2188G>C (p.Ala730Pro) c.1849G>C (p.Ala617Pro) c.2197G>C (p.Ala733Pro) c.2241+64G>C (n.2241+64G>C) c.2205+64G>C (n.2205+64G>C) c.2227G>C (p.Ala743Pro) c.2133+64G>C (n.2133+64G>C) c.1680-6139G>C (n.1680-6139G>C) c.2323G>C (p.Ala775Pro) c.2389G>C (p.Ala797Pro) c.2386G>C (p.Ala796Pro) c.2359G>C (p.Ala787Pro) c.2305G>C (p.Ala769Pro) c.2278G>C (p.Ala760Pro) c.2263G>C (p.Ala755Pro) c.1870G>C (p.Ala624Pro) c.2332G>C (p.Ala778Pro) c.2269G>C (p.Ala757Pro) c.2266G>C (p.Ala756Pro) c.2224G>C (p.Ala742Pro) c.1297G>C (p.Ala433Pro)	gnomAD v4
20	g.63406982C>T	CA231192	KCNQ2	c.2335G>A (p.Ala779Thr) c.2281G>A (p.Ala761Thr) c.1678G>A (p.Ala560Thr) c.2188G>A (p.Ala730Thr) c.1849G>A (p.Ala617Thr) c.2197G>A (p.Ala733Thr) c.2241+64G>A (n.2241+64G>A) c.2205+64G>A (n.2205+64G>A) c.2227G>A (p.Ala743Thr) c.2133+64G>A (n.2133+64G>A) c.1680-6139G>A (n.1680-6139G>A) c.2323G>A (p.Ala775Thr) c.2389G>A (p.Ala797Thr) c.2386G>A (p.Ala796Thr) c.2359G>A (p.Ala787Thr) c.2305G>A (p.Ala769Thr) c.2278G>A (p.Ala760Thr) c.2263G>A (p.Ala755Thr) c.1870G>A (p.Ala624Thr) c.2332G>A (p.Ala778Thr) c.2269G>A (p.Ala757Thr) c.2266G>A (p.Ala756Thr) c.2224G>A (p.Ala742Thr) c.1297G>A (p.Ala433Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
20	g.63406983G>A	CA9958108	KCNQ2	c.2334C>T (p.Arg778=) c.2280C>T (p.Arg760=) c.1677C>T (p.Arg559=) c.2187C>T (p.Arg729=) c.1848C>T (p.Arg616=) c.2196C>T (p.Arg732=) c.2241+63C>T (n.2241+63C>T) c.2205+63C>T (n.2205+63C>T) c.2226C>T (p.Arg742=) c.2133+63C>T (n.2133+63C>T) c.1680-6140C>T (n.1680-6140C>T) c.2322C>T (p.Arg774=) c.2388C>T (p.Arg796=) c.2385C>T (p.Arg795=) c.2358C>T (p.Arg786=) c.2304C>T (p.Arg768=) c.2277C>T (p.Arg759=) c.2262C>T (p.Arg754=) c.1869C>T (p.Arg623=) c.2331C>T (p.Arg777=) c.2268C>T (p.Arg756=) c.2265C>T (p.Arg755=) c.2223C>T (p.Arg741=) c.1296C>T (p.Arg432=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406983G>C	CA511339364	KCNQ2	c.2334C>G (p.Arg778=) c.2280C>G (p.Arg760=) c.1677C>G (p.Arg559=) c.2187C>G (p.Arg729=) c.1848C>G (p.Arg616=) c.2196C>G (p.Arg732=) c.2241+63C>G (n.2241+63C>G) c.2205+63C>G (n.2205+63C>G) c.2226C>G (p.Arg742=) c.2133+63C>G (n.2133+63C>G) c.1680-6140C>G (n.1680-6140C>G) c.2322C>G (p.Arg774=) c.2388C>G (p.Arg796=) c.2385C>G (p.Arg795=) c.2358C>G (p.Arg786=) c.2304C>G (p.Arg768=) c.2277C>G (p.Arg759=) c.2262C>G (p.Arg754=) c.1869C>G (p.Arg623=) c.2331C>G (p.Arg777=) c.2268C>G (p.Arg756=) c.2265C>G (p.Arg755=) c.2223C>G (p.Arg741=) c.1296C>G (p.Arg432=)
20	g.63406983G=	CA2374774347	KCNQ2	c.2334C= (p.Arg778=) c.2280C= (p.Arg760=) c.1677C= (p.Arg559=) c.2187C= (p.Arg729=) c.1848C= (p.Arg616=) c.2196C= (p.Arg732=) c.2241+63C= (n.2241+63C=) c.2205+63C= (n.2205+63C=) c.2226C= (p.Arg742=) c.2133+63C= (n.2133+63C=) c.1680-6140C= (n.1680-6140C=) c.2322C= (p.Arg774=) c.2388C= (p.Arg796=) c.2385C= (p.Arg795=) c.2358C= (p.Arg786=) c.2304C= (p.Arg768=) c.2277C= (p.Arg759=) c.2262C= (p.Arg754=) c.1869C= (p.Arg623=) c.2331C= (p.Arg777=) c.2268C= (p.Arg756=) c.2265C= (p.Arg755=) c.2223C= (p.Arg741=) c.1296C= (p.Arg432=)
20	g.63406983G>T	CA511339365	KCNQ2	c.2334C>A (p.Arg778=) c.2280C>A (p.Arg760=) c.1677C>A (p.Arg559=) c.2187C>A (p.Arg729=) c.1848C>A (p.Arg616=) c.2196C>A (p.Arg732=) c.2241+63C>A (n.2241+63C>A) c.2205+63C>A (n.2205+63C>A) c.2226C>A (p.Arg742=) c.2133+63C>A (n.2133+63C>A) c.1680-6140C>A (n.1680-6140C>A) c.2322C>A (p.Arg774=) c.2388C>A (p.Arg796=) c.2385C>A (p.Arg795=) c.2358C>A (p.Arg786=) c.2304C>A (p.Arg768=) c.2277C>A (p.Arg759=) c.2262C>A (p.Arg754=) c.1869C>A (p.Arg623=) c.2331C>A (p.Arg777=) c.2268C>A (p.Arg756=) c.2265C>A (p.Arg755=) c.2223C>A (p.Arg741=) c.1296C>A (p.Arg432=)
20	g.63406984C>A	CA409638053	KCNQ2	c.2333G>T (p.Arg778Leu) c.2279G>T (p.Arg760Leu) c.1676G>T (p.Arg559Leu) c.2186G>T (p.Arg729Leu) c.1847G>T (p.Arg616Leu) c.2195G>T (p.Arg732Leu) c.2241+62G>T (n.2241+62G>T) c.2205+62G>T (n.2205+62G>T) c.2225G>T (p.Arg742Leu) c.2133+62G>T (n.2133+62G>T) c.1680-6141G>T (n.1680-6141G>T) c.2321G>T (p.Arg774Leu) c.2387G>T (p.Arg796Leu) c.2384G>T (p.Arg795Leu) c.2357G>T (p.Arg786Leu) c.2303G>T (p.Arg768Leu) c.2276G>T (p.Arg759Leu) c.2261G>T (p.Arg754Leu) c.1868G>T (p.Arg623Leu) c.2330G>T (p.Arg777Leu) c.2267G>T (p.Arg756Leu) c.2264G>T (p.Arg755Leu) c.2222G>T (p.Arg741Leu) c.1295G>T (p.Arg432Leu)	gnomAD v4
20	g.63406984C=	CA2374774348	KCNQ2	c.2333G= (p.Arg778=) c.2279G= (p.Arg760=) c.1676G= (p.Arg559=) c.2186G= (p.Arg729=) c.1847G= (p.Arg616=) c.2195G= (p.Arg732=) c.2241+62G= (n.2241+62G=) c.2205+62G= (n.2205+62G=) c.2225G= (p.Arg742=) c.2133+62G= (n.2133+62G=) c.1680-6141G= (n.1680-6141G=) c.2321G= (p.Arg774=) c.2387G= (p.Arg796=) c.2384G= (p.Arg795=) c.2357G= (p.Arg786=) c.2303G= (p.Arg768=) c.2276G= (p.Arg759=) c.2261G= (p.Arg754=) c.1868G= (p.Arg623=) c.2330G= (p.Arg777=) c.2267G= (p.Arg756=) c.2264G= (p.Arg755=) c.2222G= (p.Arg741=) c.1295G= (p.Arg432=)
20	g.63406984C>G	CA409638056	KCNQ2	c.2333G>C (p.Arg778Pro) c.2279G>C (p.Arg760Pro) c.1676G>C (p.Arg559Pro) c.2186G>C (p.Arg729Pro) c.1847G>C (p.Arg616Pro) c.2195G>C (p.Arg732Pro) c.2241+62G>C (n.2241+62G>C) c.2205+62G>C (n.2205+62G>C) c.2225G>C (p.Arg742Pro) c.2133+62G>C (n.2133+62G>C) c.1680-6141G>C (n.1680-6141G>C) c.2321G>C (p.Arg774Pro) c.2387G>C (p.Arg796Pro) c.2384G>C (p.Arg795Pro) c.2357G>C (p.Arg786Pro) c.2303G>C (p.Arg768Pro) c.2276G>C (p.Arg759Pro) c.2261G>C (p.Arg754Pro) c.1868G>C (p.Arg623Pro) c.2330G>C (p.Arg777Pro) c.2267G>C (p.Arg756Pro) c.2264G>C (p.Arg755Pro) c.2222G>C (p.Arg741Pro) c.1295G>C (p.Arg432Pro)
20	g.63406984C>T	CA338900	KCNQ2	c.2333G>A (p.Arg778His) c.2279G>A (p.Arg760His) c.1676G>A (p.Arg559His) c.2186G>A (p.Arg729His) c.1847G>A (p.Arg616His) c.2195G>A (p.Arg732His) c.2241+62G>A (n.2241+62G>A) c.2205+62G>A (n.2205+62G>A) c.2225G>A (p.Arg742His) c.2133+62G>A (n.2133+62G>A) c.1680-6141G>A (n.1680-6141G>A) c.2321G>A (p.Arg774His) c.2387G>A (p.Arg796His) c.2384G>A (p.Arg795His) c.2357G>A (p.Arg786His) c.2303G>A (p.Arg768His) c.2276G>A (p.Arg759His) c.2261G>A (p.Arg754His) c.1868G>A (p.Arg623His) c.2330G>A (p.Arg777His) c.2267G>A (p.Arg756His) c.2264G>A (p.Arg755His) c.2222G>A (p.Arg741His) c.1295G>A (p.Arg432His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406984_63406985delinsCG	CA2374774349	KCNQ2	c.2332_2333delinsCG (p.Arg778=) c.2278_2279delinsCG (p.Arg760=) c.1675_1676delinsCG (p.Arg559=) c.2185_2186delinsCG (p.Arg729=) c.1846_1847delinsCG (p.Arg616=) c.2194_2195delinsCG (p.Arg732=) c.2241+61_2241+62delinsCG (n.2241+61_2241+62delinsCG) c.2205+61_2205+62delinsCG (n.2205+61_2205+62delinsCG) c.2224_2225delinsCG (p.Arg742=) c.2133+61_2133+62delinsCG (n.2133+61_2133+62delinsCG) c.1680-6142_1680-6141delinsCG (n.1680-6142_1680-6141delinsCG) c.2320_2321delinsCG (p.Arg774=) c.2386_2387delinsCG (p.Arg796=) c.2383_2384delinsCG (p.Arg795=) c.2356_2357delinsCG (p.Arg786=) c.2302_2303delinsCG (p.Arg768=) c.2275_2276delinsCG (p.Arg759=) c.2260_2261delinsCG (p.Arg754=) c.1867_1868delinsCG (p.Arg623=) c.2329_2330delinsCG (p.Arg777=) c.2266_2267delinsCG (p.Arg756=) c.2263_2264delinsCG (p.Arg755=) c.2221_2222delinsCG (p.Arg741=) c.1294_1295delinsCG (p.Arg432=)
20	g.63406985G>A	CA409638061	KCNQ2	c.2332C>T (p.Arg778Cys) c.2278C>T (p.Arg760Cys) c.1675C>T (p.Arg559Cys) c.2185C>T (p.Arg729Cys) c.1846C>T (p.Arg616Cys) c.2194C>T (p.Arg732Cys) c.2241+61C>T (n.2241+61C>T) c.2205+61C>T (n.2205+61C>T) c.2224C>T (p.Arg742Cys) c.2133+61C>T (n.2133+61C>T) c.1680-6142C>T (n.1680-6142C>T) c.2320C>T (p.Arg774Cys) c.2386C>T (p.Arg796Cys) c.2383C>T (p.Arg795Cys) c.2356C>T (p.Arg786Cys) c.2302C>T (p.Arg768Cys) c.2275C>T (p.Arg759Cys) c.2260C>T (p.Arg754Cys) c.1867C>T (p.Arg623Cys) c.2329C>T (p.Arg777Cys) c.2266C>T (p.Arg756Cys) c.2263C>T (p.Arg755Cys) c.2221C>T (p.Arg741Cys) c.1294C>T (p.Arg432Cys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406985G>C	CA409638063	KCNQ2	c.2332C>G (p.Arg778Gly) c.2278C>G (p.Arg760Gly) c.1675C>G (p.Arg559Gly) c.2185C>G (p.Arg729Gly) c.1846C>G (p.Arg616Gly) c.2194C>G (p.Arg732Gly) c.2241+61C>G (n.2241+61C>G) c.2205+61C>G (n.2205+61C>G) c.2224C>G (p.Arg742Gly) c.2133+61C>G (n.2133+61C>G) c.1680-6142C>G (n.1680-6142C>G) c.2320C>G (p.Arg774Gly) c.2386C>G (p.Arg796Gly) c.2383C>G (p.Arg795Gly) c.2356C>G (p.Arg786Gly) c.2302C>G (p.Arg768Gly) c.2275C>G (p.Arg759Gly) c.2260C>G (p.Arg754Gly) c.1867C>G (p.Arg623Gly) c.2329C>G (p.Arg777Gly) c.2266C>G (p.Arg756Gly) c.2263C>G (p.Arg755Gly) c.2221C>G (p.Arg741Gly) c.1294C>G (p.Arg432Gly)
20	g.63406985G=	CA2374774350	KCNQ2	c.2332C= (p.Arg778=) c.2278C= (p.Arg760=) c.1675C= (p.Arg559=) c.2185C= (p.Arg729=) c.1846C= (p.Arg616=) c.2194C= (p.Arg732=) c.2241+61C= (n.2241+61C=) c.2205+61C= (n.2205+61C=) c.2224C= (p.Arg742=) c.2133+61C= (n.2133+61C=) c.1680-6142C= (n.1680-6142C=) c.2320C= (p.Arg774=) c.2386C= (p.Arg796=) c.2383C= (p.Arg795=) c.2356C= (p.Arg786=) c.2302C= (p.Arg768=) c.2275C= (p.Arg759=) c.2260C= (p.Arg754=) c.1867C= (p.Arg623=) c.2329C= (p.Arg777=) c.2266C= (p.Arg756=) c.2263C= (p.Arg755=) c.2221C= (p.Arg741=) c.1294C= (p.Arg432=)
20	g.63406985G>T	CA409638066	KCNQ2	c.2332C>A (p.Arg778Ser) c.2278C>A (p.Arg760Ser) c.1675C>A (p.Arg559Ser) c.2185C>A (p.Arg729Ser) c.1846C>A (p.Arg616Ser) c.2194C>A (p.Arg732Ser) c.2241+61C>A (n.2241+61C>A) c.2205+61C>A (n.2205+61C>A) c.2224C>A (p.Arg742Ser) c.2133+61C>A (n.2133+61C>A) c.1680-6142C>A (n.1680-6142C>A) c.2320C>A (p.Arg774Ser) c.2386C>A (p.Arg796Ser) c.2383C>A (p.Arg795Ser) c.2356C>A (p.Arg786Ser) c.2302C>A (p.Arg768Ser) c.2275C>A (p.Arg759Ser) c.2260C>A (p.Arg754Ser) c.1867C>A (p.Arg623Ser) c.2329C>A (p.Arg777Ser) c.2266C>A (p.Arg756Ser) c.2263C>A (p.Arg755Ser) c.2221C>A (p.Arg741Ser) c.1294C>A (p.Arg432Ser)
20	g.63406986del	CA658658882	KCNQ2	c.2332del (p.Arg778AlafsTer?) c.2278del (p.Arg760AlafsTer?) c.1675del (p.Arg559AlafsTer?) c.2185del (p.Arg729AlafsTer?) c.1846del (p.Arg616AlafsTer?) c.2194del (p.Arg732AlafsTer?) c.2241+61del (n.2241+61del) c.2205+61del (n.2205+61del) c.2224del (p.Arg742AlafsTer?) c.2133+61del (n.2133+61del) c.1680-6142del (n.1680-6142del) c.2320del (p.Arg774AlafsTer?) c.2386del (p.Arg796AlafsTer?) c.2383del (p.Arg795AlafsTer?) c.2356del (p.Arg786AlafsTer?) c.2302del (p.Arg768AlafsTer?) c.2275del (p.Arg759AlafsTer?) c.2260del (p.Arg754AlafsTer?) c.1867del (p.Arg623AlafsTer?) c.2329del (p.Arg777AlafsTer?) c.2266del (p.Arg756AlafsTer?) c.2263del (p.Arg755AlafsTer?) c.2221del (p.Arg741AlafsTer?) c.1294del (p.Arg432AlafsTer?)	ClinVar dbSNP
20	g.63406986G>A	CA511339369	KCNQ2	c.2331C>T (p.Asn777=) c.2277C>T (p.Asn759=) c.1674C>T (p.Asn558=) c.2184C>T (p.Asn728=) c.1845C>T (p.Asn615=) c.2193C>T (p.Asn731=) c.2241+60C>T (n.2241+60C>T) c.2205+60C>T (n.2205+60C>T) c.2223C>T (p.Asn741=) c.2133+60C>T (n.2133+60C>T) c.1680-6143C>T (n.1680-6143C>T) c.2319C>T (p.Asn773=) c.2385C>T (p.Asn795=) c.2382C>T (p.Asn794=) c.2355C>T (p.Asn785=) c.2301C>T (p.Asn767=) c.2274C>T (p.Asn758=) c.2259C>T (p.Asn753=) c.1866C>T (p.Asn622=) c.2328C>T (p.Asn776=) c.2265C>T (p.Asn755=) c.2262C>T (p.Asn754=) c.2220C>T (p.Asn740=) c.1293C>T (p.Asn431=)	gnomAD v4
20	g.63406986G>C	CA409638070	KCNQ2	c.2331C>G (p.Asn777Lys) c.2277C>G (p.Asn759Lys) c.1674C>G (p.Asn558Lys) c.2184C>G (p.Asn728Lys) c.1845C>G (p.Asn615Lys) c.2193C>G (p.Asn731Lys) c.2241+60C>G (n.2241+60C>G) c.2205+60C>G (n.2205+60C>G) c.2223C>G (p.Asn741Lys) c.2133+60C>G (n.2133+60C>G) c.1680-6143C>G (n.1680-6143C>G) c.2319C>G (p.Asn773Lys) c.2385C>G (p.Asn795Lys) c.2382C>G (p.Asn794Lys) c.2355C>G (p.Asn785Lys) c.2301C>G (p.Asn767Lys) c.2274C>G (p.Asn758Lys) c.2259C>G (p.Asn753Lys) c.1866C>G (p.Asn622Lys) c.2328C>G (p.Asn776Lys) c.2265C>G (p.Asn755Lys) c.2262C>G (p.Asn754Lys) c.2220C>G (p.Asn740Lys) c.1293C>G (p.Asn431Lys)
20	g.63406986G=	CA2374774351	KCNQ2	c.2331C= (p.Asn777=) c.2277C= (p.Asn759=) c.1674C= (p.Asn558=) c.2184C= (p.Asn728=) c.1845C= (p.Asn615=) c.2193C= (p.Asn731=) c.2241+60C= (n.2241+60C=) c.2205+60C= (n.2205+60C=) c.2223C= (p.Asn741=) c.2133+60C= (n.2133+60C=) c.1680-6143C= (n.1680-6143C=) c.2319C= (p.Asn773=) c.2385C= (p.Asn795=) c.2382C= (p.Asn794=) c.2355C= (p.Asn785=) c.2301C= (p.Asn767=) c.2274C= (p.Asn758=) c.2259C= (p.Asn753=) c.1866C= (p.Asn622=) c.2328C= (p.Asn776=) c.2265C= (p.Asn755=) c.2262C= (p.Asn754=) c.2220C= (p.Asn740=) c.1293C= (p.Asn431=)
20	g.63406986G>T	CA9958109	KCNQ2	c.2331C>A (p.Asn777Lys) c.2277C>A (p.Asn759Lys) c.1674C>A (p.Asn558Lys) c.2184C>A (p.Asn728Lys) c.1845C>A (p.Asn615Lys) c.2193C>A (p.Asn731Lys) c.2241+60C>A (n.2241+60C>A) c.2205+60C>A (n.2205+60C>A) c.2223C>A (p.Asn741Lys) c.2133+60C>A (n.2133+60C>A) c.1680-6143C>A (n.1680-6143C>A) c.2319C>A (p.Asn773Lys) c.2385C>A (p.Asn795Lys) c.2382C>A (p.Asn794Lys) c.2355C>A (p.Asn785Lys) c.2301C>A (p.Asn767Lys) c.2274C>A (p.Asn758Lys) c.2259C>A (p.Asn753Lys) c.1866C>A (p.Asn622Lys) c.2328C>A (p.Asn776Lys) c.2265C>A (p.Asn755Lys) c.2262C>A (p.Asn754Lys) c.2220C>A (p.Asn740Lys) c.1293C>A (p.Asn431Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.63406987T>A	CA409638075	KCNQ2	c.2330A>T (p.Asn777Ile) c.2276A>T (p.Asn759Ile) c.1673A>T (p.Asn558Ile) c.2183A>T (p.Asn728Ile) c.1844A>T (p.Asn615Ile) c.2192A>T (p.Asn731Ile) c.2241+59A>T (n.2241+59A>T) c.2205+59A>T (n.2205+59A>T) c.2222A>T (p.Asn741Ile) c.2133+59A>T (n.2133+59A>T) c.1680-6144A>T (n.1680-6144A>T) c.2318A>T (p.Asn773Ile) c.2384A>T (p.Asn795Ile) c.2381A>T (p.Asn794Ile) c.2354A>T (p.Asn785Ile) c.2300A>T (p.Asn767Ile) c.2273A>T (p.Asn758Ile) c.2258A>T (p.Asn753Ile) c.1865A>T (p.Asn622Ile) c.2327A>T (p.Asn776Ile) c.2264A>T (p.Asn755Ile) c.2261A>T (p.Asn754Ile) c.2219A>T (p.Asn740Ile) c.1292A>T (p.Asn431Ile)
20	g.63406987T>C	CA409638077	KCNQ2	c.2330A>G (p.Asn777Ser) c.2276A>G (p.Asn759Ser) c.1673A>G (p.Asn558Ser) c.2183A>G (p.Asn728Ser) c.1844A>G (p.Asn615Ser) c.2192A>G (p.Asn731Ser) c.2241+59A>G (n.2241+59A>G) c.2205+59A>G (n.2205+59A>G) c.2222A>G (p.Asn741Ser) c.2133+59A>G (n.2133+59A>G) c.1680-6144A>G (n.1680-6144A>G) c.2318A>G (p.Asn773Ser) c.2384A>G (p.Asn795Ser) c.2381A>G (p.Asn794Ser) c.2354A>G (p.Asn785Ser) c.2300A>G (p.Asn767Ser) c.2273A>G (p.Asn758Ser) c.2258A>G (p.Asn753Ser) c.1865A>G (p.Asn622Ser) c.2327A>G (p.Asn776Ser) c.2264A>G (p.Asn755Ser) c.2261A>G (p.Asn754Ser) c.2219A>G (p.Asn740Ser) c.1292A>G (p.Asn431Ser)	dbSNP gnomAD v4
20	g.63406987T>G	CA409638080	KCNQ2	c.2330A>C (p.Asn777Thr) c.2276A>C (p.Asn759Thr) c.1673A>C (p.Asn558Thr) c.2183A>C (p.Asn728Thr) c.1844A>C (p.Asn615Thr) c.2192A>C (p.Asn731Thr) c.2241+59A>C (n.2241+59A>C) c.2205+59A>C (n.2205+59A>C) c.2222A>C (p.Asn741Thr) c.2133+59A>C (n.2133+59A>C) c.1680-6144A>C (n.1680-6144A>C) c.2318A>C (p.Asn773Thr) c.2384A>C (p.Asn795Thr) c.2381A>C (p.Asn794Thr) c.2354A>C (p.Asn785Thr) c.2300A>C (p.Asn767Thr) c.2273A>C (p.Asn758Thr) c.2258A>C (p.Asn753Thr) c.1865A>C (p.Asn622Thr) c.2327A>C (p.Asn776Thr) c.2264A>C (p.Asn755Thr) c.2261A>C (p.Asn754Thr) c.2219A>C (p.Asn740Thr) c.1292A>C (p.Asn431Thr)
20	g.63406987T=	CA2374774352	KCNQ2	c.2330A= (p.Asn777=) c.2276A= (p.Asn759=) c.1673A= (p.Asn558=) c.2183A= (p.Asn728=) c.1844A= (p.Asn615=) c.2192A= (p.Asn731=) c.2241+59A= (n.2241+59A=) c.2205+59A= (n.2205+59A=) c.2222A= (p.Asn741=) c.2133+59A= (n.2133+59A=) c.1680-6144A= (n.1680-6144A=) c.2318A= (p.Asn773=) c.2384A= (p.Asn795=) c.2381A= (p.Asn794=) c.2354A= (p.Asn785=) c.2300A= (p.Asn767=) c.2273A= (p.Asn758=) c.2258A= (p.Asn753=) c.1865A= (p.Asn622=) c.2327A= (p.Asn776=) c.2264A= (p.Asn755=) c.2261A= (p.Asn754=) c.2219A= (p.Asn740=) c.1292A= (p.Asn431=)
20	g.63406988dup	CA916083760	KCNQ2	c.2330dup (p.Asn777LysfsTer?) c.2276dup (p.Asn759LysfsTer?) c.1673dup (p.Asn558LysfsTer?) c.2183dup (p.Asn728LysfsTer?) c.1844dup (p.Asn615LysfsTer?) c.2192dup (p.Asn731LysfsTer?) c.2241+59dup (n.2241+59dup) c.2205+59dup (n.2205+59dup) c.2222dup (p.Asn741LysfsTer?) c.2133+59dup (n.2133+59dup) c.1680-6144dup (n.1680-6144dup) c.2318dup (p.Asn773LysfsTer?) c.2384dup (p.Asn795LysfsTer?) c.2381dup (p.Asn794LysfsTer?) c.2354dup (p.Asn785LysfsTer?) c.2300dup (p.Asn767LysfsTer?) c.2273dup (p.Asn758LysfsTer?) c.2258dup (p.Asn753LysfsTer?) c.1865dup (p.Asn622LysfsTer?) c.2327dup (p.Asn776LysfsTer?) c.2264dup (p.Asn755LysfsTer?) c.2261dup (p.Asn754LysfsTer?) c.2219dup (p.Asn740LysfsTer?) c.1292dup (p.Asn431LysfsTer?)	ClinVar dbSNP
20	g.63406988T>A	CA409638084	KCNQ2	c.2329A>T (p.Asn777Tyr) c.2275A>T (p.Asn759Tyr) c.1672A>T (p.Asn558Tyr) c.2182A>T (p.Asn728Tyr) c.1843A>T (p.Asn615Tyr) c.2191A>T (p.Asn731Tyr) c.2241+58A>T (n.2241+58A>T) c.2205+58A>T (n.2205+58A>T) c.2221A>T (p.Asn741Tyr) c.2133+58A>T (n.2133+58A>T) c.1680-6145A>T (n.1680-6145A>T) c.2317A>T (p.Asn773Tyr) c.2383A>T (p.Asn795Tyr) c.2380A>T (p.Asn794Tyr) c.2353A>T (p.Asn785Tyr) c.2299A>T (p.Asn767Tyr) c.2272A>T (p.Asn758Tyr) c.2257A>T (p.Asn753Tyr) c.1864A>T (p.Asn622Tyr) c.2326A>T (p.Asn776Tyr) c.2263A>T (p.Asn755Tyr) c.2260A>T (p.Asn754Tyr) c.2218A>T (p.Asn740Tyr) c.1291A>T (p.Asn431Tyr)
20	g.63406988T>C	CA409638086	KCNQ2	c.2329A>G (p.Asn777Asp) c.2275A>G (p.Asn759Asp) c.1672A>G (p.Asn558Asp) c.2182A>G (p.Asn728Asp) c.1843A>G (p.Asn615Asp) c.2191A>G (p.Asn731Asp) c.2241+58A>G (n.2241+58A>G) c.2205+58A>G (n.2205+58A>G) c.2221A>G (p.Asn741Asp) c.2133+58A>G (n.2133+58A>G) c.1680-6145A>G (n.1680-6145A>G) c.2317A>G (p.Asn773Asp) c.2383A>G (p.Asn795Asp) c.2380A>G (p.Asn794Asp) c.2353A>G (p.Asn785Asp) c.2299A>G (p.Asn767Asp) c.2272A>G (p.Asn758Asp) c.2257A>G (p.Asn753Asp) c.1864A>G (p.Asn622Asp) c.2326A>G (p.Asn776Asp) c.2263A>G (p.Asn755Asp) c.2260A>G (p.Asn754Asp) c.2218A>G (p.Asn740Asp) c.1291A>G (p.Asn431Asp)
20	g.63406988T>G	CA409638087	KCNQ2	c.2329A>C (p.Asn777His) c.2275A>C (p.Asn759His) c.1672A>C (p.Asn558His) c.2182A>C (p.Asn728His) c.1843A>C (p.Asn615His) c.2191A>C (p.Asn731His) c.2241+58A>C (n.2241+58A>C) c.2205+58A>C (n.2205+58A>C) c.2221A>C (p.Asn741His) c.2133+58A>C (n.2133+58A>C) c.1680-6145A>C (n.1680-6145A>C) c.2317A>C (p.Asn773His) c.2383A>C (p.Asn795His) c.2380A>C (p.Asn794His) c.2353A>C (p.Asn785His) c.2299A>C (p.Asn767His) c.2272A>C (p.Asn758His) c.2257A>C (p.Asn753His) c.1864A>C (p.Asn622His) c.2326A>C (p.Asn776His) c.2263A>C (p.Asn755His) c.2260A>C (p.Asn754His) c.2218A>C (p.Asn740His) c.1291A>C (p.Asn431His)	gnomAD v4
20	g.63406989G>A	CA511339373	KCNQ2	c.2328C>T (p.Gly776=) c.2274C>T (p.Gly758=) c.1671C>T (p.Gly557=) c.2181C>T (p.Gly727=) c.1842C>T (p.Gly614=) c.2190C>T (p.Gly730=) c.2241+57C>T (n.2241+57C>T) c.2205+57C>T (n.2205+57C>T) c.2220C>T (p.Gly740=) c.2133+57C>T (n.2133+57C>T) c.1680-6146C>T (n.1680-6146C>T) c.2316C>T (p.Gly772=) c.2382C>T (p.Gly794=) c.2379C>T (p.Gly793=) c.2352C>T (p.Gly784=) c.2298C>T (p.Gly766=) c.2271C>T (p.Gly757=) c.2256C>T (p.Gly752=) c.1863C>T (p.Gly621=) c.2325C>T (p.Gly775=) c.2262C>T (p.Gly754=) c.2259C>T (p.Gly753=) c.2217C>T (p.Gly739=) c.1290C>T (p.Gly430=)	ClinVar dbSNP gnomAD v4
20	g.63406989G>C	CA317422000	KCNQ2	c.2328C>G (p.Gly776=) c.2274C>G (p.Gly758=) c.1671C>G (p.Gly557=) c.2181C>G (p.Gly727=) c.1842C>G (p.Gly614=) c.2190C>G (p.Gly730=) c.2241+57C>G (n.2241+57C>G) c.2205+57C>G (n.2205+57C>G) c.2220C>G (p.Gly740=) c.2133+57C>G (n.2133+57C>G) c.1680-6146C>G (n.1680-6146C>G) c.2316C>G (p.Gly772=) c.2382C>G (p.Gly794=) c.2379C>G (p.Gly793=) c.2352C>G (p.Gly784=) c.2298C>G (p.Gly766=) c.2271C>G (p.Gly757=) c.2256C>G (p.Gly752=) c.1863C>G (p.Gly621=) c.2325C>G (p.Gly775=) c.2262C>G (p.Gly754=) c.2259C>G (p.Gly753=) c.2217C>G (p.Gly739=) c.1290C>G (p.Gly430=)	dbSNP gnomAD v4
20	g.63406989G=	CA2374774353	KCNQ2	c.2328C= (p.Gly776=) c.2274C= (p.Gly758=) c.1671C= (p.Gly557=) c.2181C= (p.Gly727=) c.1842C= (p.Gly614=) c.2190C= (p.Gly730=) c.2241+57C= (n.2241+57C=) c.2205+57C= (n.2205+57C=) c.2220C= (p.Gly740=) c.2133+57C= (n.2133+57C=) c.1680-6146C= (n.1680-6146C=) c.2316C= (p.Gly772=) c.2382C= (p.Gly794=) c.2379C= (p.Gly793=) c.2352C= (p.Gly784=) c.2298C= (p.Gly766=) c.2271C= (p.Gly757=) c.2256C= (p.Gly752=) c.1863C= (p.Gly621=) c.2325C= (p.Gly775=) c.2262C= (p.Gly754=) c.2259C= (p.Gly753=) c.2217C= (p.Gly739=) c.1290C= (p.Gly430=)
20	g.63406989G>T	CA511339372	KCNQ2	c.2328C>A (p.Gly776=) c.2274C>A (p.Gly758=) c.1671C>A (p.Gly557=) c.2181C>A (p.Gly727=) c.1842C>A (p.Gly614=) c.2190C>A (p.Gly730=) c.2241+57C>A (n.2241+57C>A) c.2205+57C>A (n.2205+57C>A) c.2220C>A (p.Gly740=) c.2133+57C>A (n.2133+57C>A) c.1680-6146C>A (n.1680-6146C>A) c.2316C>A (p.Gly772=) c.2382C>A (p.Gly794=) c.2379C>A (p.Gly793=) c.2352C>A (p.Gly784=) c.2298C>A (p.Gly766=) c.2271C>A (p.Gly757=) c.2256C>A (p.Gly752=) c.1863C>A (p.Gly621=) c.2325C>A (p.Gly775=) c.2262C>A (p.Gly754=) c.2259C>A (p.Gly753=) c.2217C>A (p.Gly739=) c.1290C>A (p.Gly430=)
20	g.63406990C>A	CA409638089	KCNQ2	c.2327G>T (p.Gly776Val) c.2273G>T (p.Gly758Val) c.1670G>T (p.Gly557Val) c.2180G>T (p.Gly727Val) c.1841G>T (p.Gly614Val) c.2189G>T (p.Gly730Val) c.2241+56G>T (n.2241+56G>T) c.2205+56G>T (n.2205+56G>T) c.2219G>T (p.Gly740Val) c.2133+56G>T (n.2133+56G>T) c.1680-6147G>T (n.1680-6147G>T) c.2315G>T (p.Gly772Val) c.2381G>T (p.Gly794Val) c.2378G>T (p.Gly793Val) c.2351G>T (p.Gly784Val) c.2297G>T (p.Gly766Val) c.2270G>T (p.Gly757Val) c.2255G>T (p.Gly752Val) c.1862G>T (p.Gly621Val) c.2324G>T (p.Gly775Val) c.2261G>T (p.Gly754Val) c.2258G>T (p.Gly753Val) c.2216G>T (p.Gly739Val) c.1289G>T (p.Gly430Val)
20	g.63406990C=	CA2374774354	KCNQ2	c.2327G= (p.Gly776=) c.2273G= (p.Gly758=) c.1670G= (p.Gly557=) c.2180G= (p.Gly727=) c.1841G= (p.Gly614=) c.2189G= (p.Gly730=) c.2241+56G= (n.2241+56G=) c.2205+56G= (n.2205+56G=) c.2219G= (p.Gly740=) c.2133+56G= (n.2133+56G=) c.1680-6147G= (n.1680-6147G=) c.2315G= (p.Gly772=) c.2381G= (p.Gly794=) c.2378G= (p.Gly793=) c.2351G= (p.Gly784=) c.2297G= (p.Gly766=) c.2270G= (p.Gly757=) c.2255G= (p.Gly752=) c.1862G= (p.Gly621=) c.2324G= (p.Gly775=) c.2261G= (p.Gly754=) c.2258G= (p.Gly753=) c.2216G= (p.Gly739=) c.1289G= (p.Gly430=)
20	g.63406990C>G	CA409638092	KCNQ2	c.2327G>C (p.Gly776Ala) c.2273G>C (p.Gly758Ala) c.1670G>C (p.Gly557Ala) c.2180G>C (p.Gly727Ala) c.1841G>C (p.Gly614Ala) c.2189G>C (p.Gly730Ala) c.2241+56G>C (n.2241+56G>C) c.2205+56G>C (n.2205+56G>C) c.2219G>C (p.Gly740Ala) c.2133+56G>C (n.2133+56G>C) c.1680-6147G>C (n.1680-6147G>C) c.2315G>C (p.Gly772Ala) c.2381G>C (p.Gly794Ala) c.2378G>C (p.Gly793Ala) c.2351G>C (p.Gly784Ala) c.2297G>C (p.Gly766Ala) c.2270G>C (p.Gly757Ala) c.2255G>C (p.Gly752Ala) c.1862G>C (p.Gly621Ala) c.2324G>C (p.Gly775Ala) c.2261G>C (p.Gly754Ala) c.2258G>C (p.Gly753Ala) c.2216G>C (p.Gly739Ala) c.1289G>C (p.Gly430Ala)
20	g.63406990C>T	CA409638094	KCNQ2	c.2327G>A (p.Gly776Asp) c.2273G>A (p.Gly758Asp) c.1670G>A (p.Gly557Asp) c.2180G>A (p.Gly727Asp) c.1841G>A (p.Gly614Asp) c.2189G>A (p.Gly730Asp) c.2241+56G>A (n.2241+56G>A) c.2205+56G>A (n.2205+56G>A) c.2219G>A (p.Gly740Asp) c.2133+56G>A (n.2133+56G>A) c.1680-6147G>A (n.1680-6147G>A) c.2315G>A (p.Gly772Asp) c.2381G>A (p.Gly794Asp) c.2378G>A (p.Gly793Asp) c.2351G>A (p.Gly784Asp) c.2297G>A (p.Gly766Asp) c.2270G>A (p.Gly757Asp) c.2255G>A (p.Gly752Asp) c.1862G>A (p.Gly621Asp) c.2324G>A (p.Gly775Asp) c.2261G>A (p.Gly754Asp) c.2258G>A (p.Gly753Asp) c.2216G>A (p.Gly739Asp) c.1289G>A (p.Gly430Asp)	dbSNP gnomAD v2 gnomAD v4
20	g.63406994del	CA2653805288	KCNQ2	c.2327del (p.Gly776AlafsTer?) c.2273del (p.Gly758AlafsTer?) c.1670del (p.Gly557AlafsTer?) c.2180del (p.Gly727AlafsTer?) c.1841del (p.Gly614AlafsTer?) c.2189del (p.Gly730AlafsTer?) c.2241+56del (n.2241+56del) c.2205+56del (n.2205+56del) c.2219del (p.Gly740AlafsTer?) c.2133+56del (n.2133+56del) c.1680-6147del (n.1680-6147del) c.2315del (p.Gly772AlafsTer?) c.2381del (p.Gly794AlafsTer?) c.2378del (p.Gly793AlafsTer?) c.2351del (p.Gly784AlafsTer?) c.2297del (p.Gly766AlafsTer?) c.2270del (p.Gly757AlafsTer?) c.2255del (p.Gly752AlafsTer?) c.1862del (p.Gly621AlafsTer?) c.2324del (p.Gly775AlafsTer?) c.2261del (p.Gly754AlafsTer?) c.2258del (p.Gly753AlafsTer?) c.2216del (p.Gly739AlafsTer?) c.1289del (p.Gly430AlafsTer?)	gnomAD v4
20	g.63406991C>A	CA409638096	KCNQ2	c.2326G>T (p.Gly776Cys) c.2272G>T (p.Gly758Cys) c.1669G>T (p.Gly557Cys) c.2179G>T (p.Gly727Cys) c.1840G>T (p.Gly614Cys) c.2188G>T (p.Gly730Cys) c.2241+55G>T (n.2241+55G>T) c.2205+55G>T (n.2205+55G>T) c.2218G>T (p.Gly740Cys) c.2133+55G>T (n.2133+55G>T) c.1680-6148G>T (n.1680-6148G>T) c.2314G>T (p.Gly772Cys) c.2380G>T (p.Gly794Cys) c.2377G>T (p.Gly793Cys) c.2350G>T (p.Gly784Cys) c.2296G>T (p.Gly766Cys) c.2269G>T (p.Gly757Cys) c.2254G>T (p.Gly752Cys) c.1861G>T (p.Gly621Cys) c.2323G>T (p.Gly775Cys) c.2260G>T (p.Gly754Cys) c.2257G>T (p.Gly753Cys) c.2215G>T (p.Gly739Cys) c.1288G>T (p.Gly430Cys)
20	g.63406991C>G	CA409638098	KCNQ2	c.2326G>C (p.Gly776Arg) c.2272G>C (p.Gly758Arg) c.1669G>C (p.Gly557Arg) c.2179G>C (p.Gly727Arg) c.1840G>C (p.Gly614Arg) c.2188G>C (p.Gly730Arg) c.2241+55G>C (n.2241+55G>C) c.2205+55G>C (n.2205+55G>C) c.2218G>C (p.Gly740Arg) c.2133+55G>C (n.2133+55G>C) c.1680-6148G>C (n.1680-6148G>C) c.2314G>C (p.Gly772Arg) c.2380G>C (p.Gly794Arg) c.2377G>C (p.Gly793Arg) c.2350G>C (p.Gly784Arg) c.2296G>C (p.Gly766Arg) c.2269G>C (p.Gly757Arg) c.2254G>C (p.Gly752Arg) c.1861G>C (p.Gly621Arg) c.2323G>C (p.Gly775Arg) c.2260G>C (p.Gly754Arg) c.2257G>C (p.Gly753Arg) c.2215G>C (p.Gly739Arg) c.1288G>C (p.Gly430Arg)
20	g.63406991C>T	CA409638100	KCNQ2	c.2326G>A (p.Gly776Ser) c.2272G>A (p.Gly758Ser) c.1669G>A (p.Gly557Ser) c.2179G>A (p.Gly727Ser) c.1840G>A (p.Gly614Ser) c.2188G>A (p.Gly730Ser) c.2241+55G>A (n.2241+55G>A) c.2205+55G>A (n.2205+55G>A) c.2218G>A (p.Gly740Ser) c.2133+55G>A (n.2133+55G>A) c.1680-6148G>A (n.1680-6148G>A) c.2314G>A (p.Gly772Ser) c.2380G>A (p.Gly794Ser) c.2377G>A (p.Gly793Ser) c.2350G>A (p.Gly784Ser) c.2296G>A (p.Gly766Ser) c.2269G>A (p.Gly757Ser) c.2254G>A (p.Gly752Ser) c.1861G>A (p.Gly621Ser) c.2323G>A (p.Gly775Ser) c.2260G>A (p.Gly754Ser) c.2257G>A (p.Gly753Ser) c.2215G>A (p.Gly739Ser) c.1288G>A (p.Gly430Ser)
20	g.63406992C>A	CA511339376	KCNQ2	c.2325G>T (p.Gly775=) c.2271G>T (p.Gly757=) c.1668G>T (p.Gly556=) c.2178G>T (p.Gly726=) c.1839G>T (p.Gly613=) c.2187G>T (p.Gly729=) c.2241+54G>T (n.2241+54G>T) c.2205+54G>T (n.2205+54G>T) c.2217G>T (p.Gly739=) c.2133+54G>T (n.2133+54G>T) c.1680-6149G>T (n.1680-6149G>T) c.2313G>T (p.Gly771=) c.2379G>T (p.Gly793=) c.2376G>T (p.Gly792=) c.2349G>T (p.Gly783=) c.2295G>T (p.Gly765=) c.2268G>T (p.Gly756=) c.2253G>T (p.Gly751=) c.1860G>T (p.Gly620=) c.2322G>T (p.Gly774=) c.2259G>T (p.Gly753=) c.2256G>T (p.Gly752=) c.2214G>T (p.Gly738=) c.1287G>T (p.Gly429=)	gnomAD v4
20	g.63406992C>G	CA511339377	KCNQ2	c.2325G>C (p.Gly775=) c.2271G>C (p.Gly757=) c.1668G>C (p.Gly556=) c.2178G>C (p.Gly726=) c.1839G>C (p.Gly613=) c.2187G>C (p.Gly729=) c.2241+54G>C (n.2241+54G>C) c.2205+54G>C (n.2205+54G>C) c.2217G>C (p.Gly739=) c.2133+54G>C (n.2133+54G>C) c.1680-6149G>C (n.1680-6149G>C) c.2313G>C (p.Gly771=) c.2379G>C (p.Gly793=) c.2376G>C (p.Gly792=) c.2349G>C (p.Gly783=) c.2295G>C (p.Gly765=) c.2268G>C (p.Gly756=) c.2253G>C (p.Gly751=) c.1860G>C (p.Gly620=) c.2322G>C (p.Gly774=) c.2259G>C (p.Gly753=) c.2256G>C (p.Gly752=) c.2214G>C (p.Gly738=) c.1287G>C (p.Gly429=)	gnomAD v4
20	g.63406992C>T	CA511339378	KCNQ2	c.2325G>A (p.Gly775=) c.2271G>A (p.Gly757=) c.1668G>A (p.Gly556=) c.2178G>A (p.Gly726=) c.1839G>A (p.Gly613=) c.2187G>A (p.Gly729=) c.2241+54G>A (n.2241+54G>A) c.2205+54G>A (n.2205+54G>A) c.2217G>A (p.Gly739=) c.2133+54G>A (n.2133+54G>A) c.1680-6149G>A (n.1680-6149G>A) c.2313G>A (p.Gly771=) c.2379G>A (p.Gly793=) c.2376G>A (p.Gly792=) c.2349G>A (p.Gly783=) c.2295G>A (p.Gly765=) c.2268G>A (p.Gly756=) c.2253G>A (p.Gly751=) c.1860G>A (p.Gly620=) c.2322G>A (p.Gly774=) c.2259G>A (p.Gly753=) c.2256G>A (p.Gly752=) c.2214G>A (p.Gly738=) c.1287G>A (p.Gly429=)	ClinVar dbSNP gnomAD v4
20	g.63406994_63406997del	CA2580616358	KCNQ2	c.2322_2325del (p.Gly775AlafsTer?) c.2268_2271del (p.Gly757AlafsTer?) c.1665_1668del (p.Gly556AlafsTer?) c.2175_2178del (p.Gly726AlafsTer?) c.1836_1839del (p.Gly613AlafsTer?) c.2184_2187del (p.Gly729AlafsTer?) c.2241+51_2241+54del (n.2241+51_2241+54del) c.2205+51_2205+54del (n.2205+51_2205+54del) c.2214_2217del (p.Gly739AlafsTer?) c.2133+51_2133+54del (n.2133+51_2133+54del) c.1680-6152_1680-6149del (n.1680-6152_1680-6149del) c.2310_2313del (p.Gly771AlafsTer?) c.2376_2379del (p.Gly793AlafsTer?) c.2373_2376del (p.Gly792AlafsTer?) c.2346_2349del (p.Gly783AlafsTer?) c.2292_2295del (p.Gly765AlafsTer?) c.2265_2268del (p.Gly756AlafsTer?) c.2250_2253del (p.Gly751AlafsTer?) c.1857_1860del (p.Gly620AlafsTer?) c.2319_2322del (p.Gly774AlafsTer?) c.2256_2259del (p.Gly753AlafsTer?) c.2253_2256del (p.Gly752AlafsTer?) c.2211_2214del (p.Gly738AlafsTer?) c.1284_1287del (p.Gly429AlafsTer?)	ClinVar
20	g.63406993C>A	CA409638104	KCNQ2	c.2324G>T (p.Gly775Val) c.2270G>T (p.Gly757Val) c.1667G>T (p.Gly556Val) c.2177G>T (p.Gly726Val) c.1838G>T (p.Gly613Val) c.2186G>T (p.Gly729Val) c.2241+53G>T (n.2241+53G>T) c.2205+53G>T (n.2205+53G>T) c.2216G>T (p.Gly739Val) c.2133+53G>T (n.2133+53G>T) c.1680-6150G>T (n.1680-6150G>T) c.2312G>T (p.Gly771Val) c.2378G>T (p.Gly793Val) c.2375G>T (p.Gly792Val) c.2348G>T (p.Gly783Val) c.2294G>T (p.Gly765Val) c.2267G>T (p.Gly756Val) c.2252G>T (p.Gly751Val) c.1859G>T (p.Gly620Val) c.2321G>T (p.Gly774Val) c.2258G>T (p.Gly753Val) c.2255G>T (p.Gly752Val) c.2213G>T (p.Gly738Val) c.1286G>T (p.Gly429Val)	gnomAD v4
20	g.63406993C>G	CA409638106	KCNQ2	c.2324G>C (p.Gly775Ala) c.2270G>C (p.Gly757Ala) c.1667G>C (p.Gly556Ala) c.2177G>C (p.Gly726Ala) c.1838G>C (p.Gly613Ala) c.2186G>C (p.Gly729Ala) c.2241+53G>C (n.2241+53G>C) c.2205+53G>C (n.2205+53G>C) c.2216G>C (p.Gly739Ala) c.2133+53G>C (n.2133+53G>C) c.1680-6150G>C (n.1680-6150G>C) c.2312G>C (p.Gly771Ala) c.2378G>C (p.Gly793Ala) c.2375G>C (p.Gly792Ala) c.2348G>C (p.Gly783Ala) c.2294G>C (p.Gly765Ala) c.2267G>C (p.Gly756Ala) c.2252G>C (p.Gly751Ala) c.1859G>C (p.Gly620Ala) c.2321G>C (p.Gly774Ala) c.2258G>C (p.Gly753Ala) c.2255G>C (p.Gly752Ala) c.2213G>C (p.Gly738Ala) c.1286G>C (p.Gly429Ala)
20	g.63406993C>T	CA409638102	KCNQ2	c.2324G>A (p.Gly775Glu) c.2270G>A (p.Gly757Glu) c.1667G>A (p.Gly556Glu) c.2177G>A (p.Gly726Glu) c.1838G>A (p.Gly613Glu) c.2186G>A (p.Gly729Glu) c.2241+53G>A (n.2241+53G>A) c.2205+53G>A (n.2205+53G>A) c.2216G>A (p.Gly739Glu) c.2133+53G>A (n.2133+53G>A) c.1680-6150G>A (n.1680-6150G>A) c.2312G>A (p.Gly771Glu) c.2378G>A (p.Gly793Glu) c.2375G>A (p.Gly792Glu) c.2348G>A (p.Gly783Glu) c.2294G>A (p.Gly765Glu) c.2267G>A (p.Gly756Glu) c.2252G>A (p.Gly751Glu) c.1859G>A (p.Gly620Glu) c.2321G>A (p.Gly774Glu) c.2258G>A (p.Gly753Glu) c.2255G>A (p.Gly752Glu) c.2213G>A (p.Gly738Glu) c.1286G>A (p.Gly429Glu)	gnomAD v4
20	g.63406994C>A	CA409638108	KCNQ2	c.2323G>T (p.Gly775Trp) c.2269G>T (p.Gly757Trp) c.1666G>T (p.Gly556Trp) c.2176G>T (p.Gly726Trp) c.1837G>T (p.Gly613Trp) c.2185G>T (p.Gly729Trp) c.2241+52G>T (n.2241+52G>T) c.2205+52G>T (n.2205+52G>T) c.2215G>T (p.Gly739Trp) c.2133+52G>T (n.2133+52G>T) c.1680-6151G>T (n.1680-6151G>T) c.2311G>T (p.Gly771Trp) c.2377G>T (p.Gly793Trp) c.2374G>T (p.Gly792Trp) c.2347G>T (p.Gly783Trp) c.2293G>T (p.Gly765Trp) c.2266G>T (p.Gly756Trp) c.2251G>T (p.Gly751Trp) c.1858G>T (p.Gly620Trp) c.2320G>T (p.Gly774Trp) c.2257G>T (p.Gly753Trp) c.2254G>T (p.Gly752Trp) c.2212G>T (p.Gly738Trp) c.1285G>T (p.Gly429Trp)	gnomAD v4
20	g.63406994C>G	CA409638110	KCNQ2	c.2323G>C (p.Gly775Arg) c.2269G>C (p.Gly757Arg) c.1666G>C (p.Gly556Arg) c.2176G>C (p.Gly726Arg) c.1837G>C (p.Gly613Arg) c.2185G>C (p.Gly729Arg) c.2241+52G>C (n.2241+52G>C) c.2205+52G>C (n.2205+52G>C) c.2215G>C (p.Gly739Arg) c.2133+52G>C (n.2133+52G>C) c.1680-6151G>C (n.1680-6151G>C) c.2311G>C (p.Gly771Arg) c.2377G>C (p.Gly793Arg) c.2374G>C (p.Gly792Arg) c.2347G>C (p.Gly783Arg) c.2293G>C (p.Gly765Arg) c.2266G>C (p.Gly756Arg) c.2251G>C (p.Gly751Arg) c.1858G>C (p.Gly620Arg) c.2320G>C (p.Gly774Arg) c.2257G>C (p.Gly753Arg) c.2254G>C (p.Gly752Arg) c.2212G>C (p.Gly738Arg) c.1285G>C (p.Gly429Arg)
20	g.63406994C>T	CA409638112	KCNQ2	c.2323G>A (p.Gly775Arg) c.2269G>A (p.Gly757Arg) c.1666G>A (p.Gly556Arg) c.2176G>A (p.Gly726Arg) c.1837G>A (p.Gly613Arg) c.2185G>A (p.Gly729Arg) c.2241+52G>A (n.2241+52G>A) c.2205+52G>A (n.2205+52G>A) c.2215G>A (p.Gly739Arg) c.2133+52G>A (n.2133+52G>A) c.1680-6151G>A (n.1680-6151G>A) c.2311G>A (p.Gly771Arg) c.2377G>A (p.Gly793Arg) c.2374G>A (p.Gly792Arg) c.2347G>A (p.Gly783Arg) c.2293G>A (p.Gly765Arg) c.2266G>A (p.Gly756Arg) c.2251G>A (p.Gly751Arg) c.1858G>A (p.Gly620Arg) c.2320G>A (p.Gly774Arg) c.2257G>A (p.Gly753Arg) c.2254G>A (p.Gly752Arg) c.2212G>A (p.Gly738Arg) c.1285G>A (p.Gly429Arg)	gnomAD v4
20	g.63406995G>A	CA9958110	KCNQ2	c.2322C>T (p.Gly774=) c.2268C>T (p.Gly756=) c.1665C>T (p.Gly555=) c.2175C>T (p.Gly725=) c.1836C>T (p.Gly612=) c.2184C>T (p.Gly728=) c.2241+51C>T (n.2241+51C>T) c.2205+51C>T (n.2205+51C>T) c.2214C>T (p.Gly738=) c.2133+51C>T (n.2133+51C>T) c.1680-6152C>T (n.1680-6152C>T) c.2310C>T (p.Gly770=) c.2376C>T (p.Gly792=) c.2373C>T (p.Gly791=) c.2346C>T (p.Gly782=) c.2292C>T (p.Gly764=) c.2265C>T (p.Gly755=) c.2250C>T (p.Gly750=) c.1857C>T (p.Gly619=) c.2319C>T (p.Gly773=) c.2256C>T (p.Gly752=) c.2253C>T (p.Gly751=) c.2211C>T (p.Gly737=) c.1284C>T (p.Gly428=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406995G>C	CA511339383	KCNQ2	c.2322C>G (p.Gly774=) c.2268C>G (p.Gly756=) c.1665C>G (p.Gly555=) c.2175C>G (p.Gly725=) c.1836C>G (p.Gly612=) c.2184C>G (p.Gly728=) c.2241+51C>G (n.2241+51C>G) c.2205+51C>G (n.2205+51C>G) c.2214C>G (p.Gly738=) c.2133+51C>G (n.2133+51C>G) c.1680-6152C>G (n.1680-6152C>G) c.2310C>G (p.Gly770=) c.2376C>G (p.Gly792=) c.2373C>G (p.Gly791=) c.2346C>G (p.Gly782=) c.2292C>G (p.Gly764=) c.2265C>G (p.Gly755=) c.2250C>G (p.Gly750=) c.1857C>G (p.Gly619=) c.2319C>G (p.Gly773=) c.2256C>G (p.Gly752=) c.2253C>G (p.Gly751=) c.2211C>G (p.Gly737=) c.1284C>G (p.Gly428=)
20	g.63406995G=	CA2374774355	KCNQ2	c.2322C= (p.Gly774=) c.2268C= (p.Gly756=) c.1665C= (p.Gly555=) c.2175C= (p.Gly725=) c.1836C= (p.Gly612=) c.2184C= (p.Gly728=) c.2241+51C= (n.2241+51C=) c.2205+51C= (n.2205+51C=) c.2214C= (p.Gly738=) c.2133+51C= (n.2133+51C=) c.1680-6152C= (n.1680-6152C=) c.2310C= (p.Gly770=) c.2376C= (p.Gly792=) c.2373C= (p.Gly791=) c.2346C= (p.Gly782=) c.2292C= (p.Gly764=) c.2265C= (p.Gly755=) c.2250C= (p.Gly750=) c.1857C= (p.Gly619=) c.2319C= (p.Gly773=) c.2256C= (p.Gly752=) c.2253C= (p.Gly751=) c.2211C= (p.Gly737=) c.1284C= (p.Gly428=)
20	g.63406995G>T	CA511339384	KCNQ2	c.2322C>A (p.Gly774=) c.2268C>A (p.Gly756=) c.1665C>A (p.Gly555=) c.2175C>A (p.Gly725=) c.1836C>A (p.Gly612=) c.2184C>A (p.Gly728=) c.2241+51C>A (n.2241+51C>A) c.2205+51C>A (n.2205+51C>A) c.2214C>A (p.Gly738=) c.2133+51C>A (n.2133+51C>A) c.1680-6152C>A (n.1680-6152C>A) c.2310C>A (p.Gly770=) c.2376C>A (p.Gly792=) c.2373C>A (p.Gly791=) c.2346C>A (p.Gly782=) c.2292C>A (p.Gly764=) c.2265C>A (p.Gly755=) c.2250C>A (p.Gly750=) c.1857C>A (p.Gly619=) c.2319C>A (p.Gly773=) c.2256C>A (p.Gly752=) c.2253C>A (p.Gly751=) c.2211C>A (p.Gly737=) c.1284C>A (p.Gly428=)	gnomAD v4
20	g.63406996C>A	CA409638115	KCNQ2	c.2321G>T (p.Gly774Val) c.2267G>T (p.Gly756Val) c.1664G>T (p.Gly555Val) c.2174G>T (p.Gly725Val) c.1835G>T (p.Gly612Val) c.2183G>T (p.Gly728Val) c.2241+50G>T (n.2241+50G>T) c.2205+50G>T (n.2205+50G>T) c.2213G>T (p.Gly738Val) c.2133+50G>T (n.2133+50G>T) c.1680-6153G>T (n.1680-6153G>T) c.2309G>T (p.Gly770Val) c.2375G>T (p.Gly792Val) c.2372G>T (p.Gly791Val) c.2345G>T (p.Gly782Val) c.2291G>T (p.Gly764Val) c.2264G>T (p.Gly755Val) c.2249G>T (p.Gly750Val) c.1856G>T (p.Gly619Val) c.2318G>T (p.Gly773Val) c.2255G>T (p.Gly752Val) c.2252G>T (p.Gly751Val) c.2210G>T (p.Gly737Val) c.1283G>T (p.Gly428Val)
20	g.63406996C>G	CA409638117	KCNQ2	c.2321G>C (p.Gly774Ala) c.2267G>C (p.Gly756Ala) c.1664G>C (p.Gly555Ala) c.2174G>C (p.Gly725Ala) c.1835G>C (p.Gly612Ala) c.2183G>C (p.Gly728Ala) c.2241+50G>C (n.2241+50G>C) c.2205+50G>C (n.2205+50G>C) c.2213G>C (p.Gly738Ala) c.2133+50G>C (n.2133+50G>C) c.1680-6153G>C (n.1680-6153G>C) c.2309G>C (p.Gly770Ala) c.2375G>C (p.Gly792Ala) c.2372G>C (p.Gly791Ala) c.2345G>C (p.Gly782Ala) c.2291G>C (p.Gly764Ala) c.2264G>C (p.Gly755Ala) c.2249G>C (p.Gly750Ala) c.1856G>C (p.Gly619Ala) c.2318G>C (p.Gly773Ala) c.2255G>C (p.Gly752Ala) c.2252G>C (p.Gly751Ala) c.2210G>C (p.Gly737Ala) c.1283G>C (p.Gly428Ala)
20	g.63406996C>T	CA409638118	KCNQ2	c.2321G>A (p.Gly774Asp) c.2267G>A (p.Gly756Asp) c.1664G>A (p.Gly555Asp) c.2174G>A (p.Gly725Asp) c.1835G>A (p.Gly612Asp) c.2183G>A (p.Gly728Asp) c.2241+50G>A (n.2241+50G>A) c.2205+50G>A (n.2205+50G>A) c.2213G>A (p.Gly738Asp) c.2133+50G>A (n.2133+50G>A) c.1680-6153G>A (n.1680-6153G>A) c.2309G>A (p.Gly770Asp) c.2375G>A (p.Gly792Asp) c.2372G>A (p.Gly791Asp) c.2345G>A (p.Gly782Asp) c.2291G>A (p.Gly764Asp) c.2264G>A (p.Gly755Asp) c.2249G>A (p.Gly750Asp) c.1856G>A (p.Gly619Asp) c.2318G>A (p.Gly773Asp) c.2255G>A (p.Gly752Asp) c.2252G>A (p.Gly751Asp) c.2210G>A (p.Gly737Asp) c.1283G>A (p.Gly428Asp)
20	g.63406997C>A	CA409638120	KCNQ2	c.2320G>T (p.Gly774Cys) c.2266G>T (p.Gly756Cys) c.1663G>T (p.Gly555Cys) c.2173G>T (p.Gly725Cys) c.1834G>T (p.Gly612Cys) c.2182G>T (p.Gly728Cys) c.2241+49G>T (n.2241+49G>T) c.2205+49G>T (n.2205+49G>T) c.2212G>T (p.Gly738Cys) c.2133+49G>T (n.2133+49G>T) c.1680-6154G>T (n.1680-6154G>T) c.2308G>T (p.Gly770Cys) c.2374G>T (p.Gly792Cys) c.2371G>T (p.Gly791Cys) c.2344G>T (p.Gly782Cys) c.2290G>T (p.Gly764Cys) c.2263G>T (p.Gly755Cys) c.2248G>T (p.Gly750Cys) c.1855G>T (p.Gly619Cys) c.2317G>T (p.Gly773Cys) c.2254G>T (p.Gly752Cys) c.2251G>T (p.Gly751Cys) c.2209G>T (p.Gly737Cys) c.1282G>T (p.Gly428Cys)	gnomAD v4
20	g.63406997C=	CA2374774356	KCNQ2	c.2320G= (p.Gly774=) c.2266G= (p.Gly756=) c.1663G= (p.Gly555=) c.2173G= (p.Gly725=) c.1834G= (p.Gly612=) c.2182G= (p.Gly728=) c.2241+49G= (n.2241+49G=) c.2205+49G= (n.2205+49G=) c.2212G= (p.Gly738=) c.2133+49G= (n.2133+49G=) c.1680-6154G= (n.1680-6154G=) c.2308G= (p.Gly770=) c.2374G= (p.Gly792=) c.2371G= (p.Gly791=) c.2344G= (p.Gly782=) c.2290G= (p.Gly764=) c.2263G= (p.Gly755=) c.2248G= (p.Gly750=) c.1855G= (p.Gly619=) c.2317G= (p.Gly773=) c.2254G= (p.Gly752=) c.2251G= (p.Gly751=) c.2209G= (p.Gly737=) c.1282G= (p.Gly428=)
20	g.63406997C>G	CA409638122	KCNQ2	c.2320G>C (p.Gly774Arg) c.2266G>C (p.Gly756Arg) c.1663G>C (p.Gly555Arg) c.2173G>C (p.Gly725Arg) c.1834G>C (p.Gly612Arg) c.2182G>C (p.Gly728Arg) c.2241+49G>C (n.2241+49G>C) c.2205+49G>C (n.2205+49G>C) c.2212G>C (p.Gly738Arg) c.2133+49G>C (n.2133+49G>C) c.1680-6154G>C (n.1680-6154G>C) c.2308G>C (p.Gly770Arg) c.2374G>C (p.Gly792Arg) c.2371G>C (p.Gly791Arg) c.2344G>C (p.Gly782Arg) c.2290G>C (p.Gly764Arg) c.2263G>C (p.Gly755Arg) c.2248G>C (p.Gly750Arg) c.1855G>C (p.Gly619Arg) c.2317G>C (p.Gly773Arg) c.2254G>C (p.Gly752Arg) c.2251G>C (p.Gly751Arg) c.2209G>C (p.Gly737Arg) c.1282G>C (p.Gly428Arg)
20	g.63406997C>T	CA315315	KCNQ2	c.2320G>A (p.Gly774Ser) c.2266G>A (p.Gly756Ser) c.1663G>A (p.Gly555Ser) c.2173G>A (p.Gly725Ser) c.1834G>A (p.Gly612Ser) c.2182G>A (p.Gly728Ser) c.2241+49G>A (n.2241+49G>A) c.2205+49G>A (n.2205+49G>A) c.2212G>A (p.Gly738Ser) c.2133+49G>A (n.2133+49G>A) c.1680-6154G>A (n.1680-6154G>A) c.2308G>A (p.Gly770Ser) c.2374G>A (p.Gly792Ser) c.2371G>A (p.Gly791Ser) c.2344G>A (p.Gly782Ser) c.2290G>A (p.Gly764Ser) c.2263G>A (p.Gly755Ser) c.2248G>A (p.Gly750Ser) c.1855G>A (p.Gly619Ser) c.2317G>A (p.Gly773Ser) c.2254G>A (p.Gly752Ser) c.2251G>A (p.Gly751Ser) c.2209G>A (p.Gly737Ser) c.1282G>A (p.Gly428Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406998G>A	CA9958111	KCNQ2	c.2319C>T (p.Tyr773=) c.2265C>T (p.Tyr755=) c.1662C>T (p.Tyr554=) c.2172C>T (p.Tyr724=) c.1833C>T (p.Tyr611=) c.2181C>T (p.Tyr727=) c.2241+48C>T (n.2241+48C>T) c.2205+48C>T (n.2205+48C>T) c.2211C>T (p.Tyr737=) c.2133+48C>T (n.2133+48C>T) c.1680-6155C>T (n.1680-6155C>T) c.2307C>T (p.Tyr769=) c.2373C>T (p.Tyr791=) c.2370C>T (p.Tyr790=) c.2343C>T (p.Tyr781=) c.2289C>T (p.Tyr763=) c.2262C>T (p.Tyr754=) c.2247C>T (p.Tyr749=) c.1854C>T (p.Tyr618=) c.2316C>T (p.Tyr772=) c.2253C>T (p.Tyr751=) c.2250C>T (p.Tyr750=) c.2208C>T (p.Tyr736=) c.1281C>T (p.Tyr427=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406998G>C	CA409638126	KCNQ2	c.2319C>G (p.Tyr773Ter) c.2265C>G (p.Tyr755Ter) c.1662C>G (p.Tyr554Ter) c.2172C>G (p.Tyr724Ter) c.1833C>G (p.Tyr611Ter) c.2181C>G (p.Tyr727Ter) c.2241+48C>G (n.2241+48C>G) c.2205+48C>G (n.2205+48C>G) c.2211C>G (p.Tyr737Ter) c.2133+48C>G (n.2133+48C>G) c.1680-6155C>G (n.1680-6155C>G) c.2307C>G (p.Tyr769Ter) c.2373C>G (p.Tyr791Ter) c.2370C>G (p.Tyr790Ter) c.2343C>G (p.Tyr781Ter) c.2289C>G (p.Tyr763Ter) c.2262C>G (p.Tyr754Ter) c.2247C>G (p.Tyr749Ter) c.1854C>G (p.Tyr618Ter) c.2316C>G (p.Tyr772Ter) c.2253C>G (p.Tyr751Ter) c.2250C>G (p.Tyr750Ter) c.2208C>G (p.Tyr736Ter) c.1281C>G (p.Tyr427Ter)
20	g.63406998G=	CA2374774357	KCNQ2	c.2319C= (p.Tyr773=) c.2265C= (p.Tyr755=) c.1662C= (p.Tyr554=) c.2172C= (p.Tyr724=) c.1833C= (p.Tyr611=) c.2181C= (p.Tyr727=) c.2241+48C= (n.2241+48C=) c.2205+48C= (n.2205+48C=) c.2211C= (p.Tyr737=) c.2133+48C= (n.2133+48C=) c.1680-6155C= (n.1680-6155C=) c.2307C= (p.Tyr769=) c.2373C= (p.Tyr791=) c.2370C= (p.Tyr790=) c.2343C= (p.Tyr781=) c.2289C= (p.Tyr763=) c.2262C= (p.Tyr754=) c.2247C= (p.Tyr749=) c.1854C= (p.Tyr618=) c.2316C= (p.Tyr772=) c.2253C= (p.Tyr751=) c.2250C= (p.Tyr750=) c.2208C= (p.Tyr736=) c.1281C= (p.Tyr427=)
20	g.63406998G>T	CA409638128	KCNQ2	c.2319C>A (p.Tyr773Ter) c.2265C>A (p.Tyr755Ter) c.1662C>A (p.Tyr554Ter) c.2172C>A (p.Tyr724Ter) c.1833C>A (p.Tyr611Ter) c.2181C>A (p.Tyr727Ter) c.2241+48C>A (n.2241+48C>A) c.2205+48C>A (n.2205+48C>A) c.2211C>A (p.Tyr737Ter) c.2133+48C>A (n.2133+48C>A) c.1680-6155C>A (n.1680-6155C>A) c.2307C>A (p.Tyr769Ter) c.2373C>A (p.Tyr791Ter) c.2370C>A (p.Tyr790Ter) c.2343C>A (p.Tyr781Ter) c.2289C>A (p.Tyr763Ter) c.2262C>A (p.Tyr754Ter) c.2247C>A (p.Tyr749Ter) c.1854C>A (p.Tyr618Ter) c.2316C>A (p.Tyr772Ter) c.2253C>A (p.Tyr751Ter) c.2250C>A (p.Tyr750Ter) c.2208C>A (p.Tyr736Ter) c.1281C>A (p.Tyr427Ter)	gnomAD v4
20	g.63406999T>A	CA409638133	KCNQ2	c.2318A>T (p.Tyr773Phe) c.2264A>T (p.Tyr755Phe) c.1661A>T (p.Tyr554Phe) c.2171A>T (p.Tyr724Phe) c.1832A>T (p.Tyr611Phe) c.2180A>T (p.Tyr727Phe) c.2241+47A>T (n.2241+47A>T) c.2205+47A>T (n.2205+47A>T) c.2210A>T (p.Tyr737Phe) c.2133+47A>T (n.2133+47A>T) c.1680-6156A>T (n.1680-6156A>T) c.2306A>T (p.Tyr769Phe) c.2372A>T (p.Tyr791Phe) c.2369A>T (p.Tyr790Phe) c.2342A>T (p.Tyr781Phe) c.2288A>T (p.Tyr763Phe) c.2261A>T (p.Tyr754Phe) c.2246A>T (p.Tyr749Phe) c.1853A>T (p.Tyr618Phe) c.2315A>T (p.Tyr772Phe) c.2252A>T (p.Tyr751Phe) c.2249A>T (p.Tyr750Phe) c.2207A>T (p.Tyr736Phe) c.1280A>T (p.Tyr427Phe)
20	g.63406999T>C	CA240975	KCNQ2	c.2318A>G (p.Tyr773Cys) c.2264A>G (p.Tyr755Cys) c.1661A>G (p.Tyr554Cys) c.2171A>G (p.Tyr724Cys) c.1832A>G (p.Tyr611Cys) c.2180A>G (p.Tyr727Cys) c.2241+47A>G (n.2241+47A>G) c.2205+47A>G (n.2205+47A>G) c.2210A>G (p.Tyr737Cys) c.2133+47A>G (n.2133+47A>G) c.1680-6156A>G (n.1680-6156A>G) c.2306A>G (p.Tyr769Cys) c.2372A>G (p.Tyr791Cys) c.2369A>G (p.Tyr790Cys) c.2342A>G (p.Tyr781Cys) c.2288A>G (p.Tyr763Cys) c.2261A>G (p.Tyr754Cys) c.2246A>G (p.Tyr749Cys) c.1853A>G (p.Tyr618Cys) c.2315A>G (p.Tyr772Cys) c.2252A>G (p.Tyr751Cys) c.2249A>G (p.Tyr750Cys) c.2207A>G (p.Tyr736Cys) c.1280A>G (p.Tyr427Cys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63406999T>G	CA409638130	KCNQ2	c.2318A>C (p.Tyr773Ser) c.2264A>C (p.Tyr755Ser) c.1661A>C (p.Tyr554Ser) c.2171A>C (p.Tyr724Ser) c.1832A>C (p.Tyr611Ser) c.2180A>C (p.Tyr727Ser) c.2241+47A>C (n.2241+47A>C) c.2205+47A>C (n.2205+47A>C) c.2210A>C (p.Tyr737Ser) c.2133+47A>C (n.2133+47A>C) c.1680-6156A>C (n.1680-6156A>C) c.2306A>C (p.Tyr769Ser) c.2372A>C (p.Tyr791Ser) c.2369A>C (p.Tyr790Ser) c.2342A>C (p.Tyr781Ser) c.2288A>C (p.Tyr763Ser) c.2261A>C (p.Tyr754Ser) c.2246A>C (p.Tyr749Ser) c.1853A>C (p.Tyr618Ser) c.2315A>C (p.Tyr772Ser) c.2252A>C (p.Tyr751Ser) c.2249A>C (p.Tyr750Ser) c.2207A>C (p.Tyr736Ser) c.1280A>C (p.Tyr427Ser)
20	g.63406999T=	CA2374774360	KCNQ2	c.2318A= (p.Tyr773=) c.2264A= (p.Tyr755=) c.1661A= (p.Tyr554=) c.2171A= (p.Tyr724=) c.1832A= (p.Tyr611=) c.2180A= (p.Tyr727=) c.2241+47A= (n.2241+47A=) c.2205+47A= (n.2205+47A=) c.2210A= (p.Tyr737=) c.2133+47A= (n.2133+47A=) c.1680-6156A= (n.1680-6156A=) c.2306A= (p.Tyr769=) c.2372A= (p.Tyr791=) c.2369A= (p.Tyr790=) c.2342A= (p.Tyr781=) c.2288A= (p.Tyr763=) c.2261A= (p.Tyr754=) c.2246A= (p.Tyr749=) c.1853A= (p.Tyr618=) c.2315A= (p.Tyr772=) c.2252A= (p.Tyr751=) c.2249A= (p.Tyr750=) c.2207A= (p.Tyr736=) c.1280A= (p.Tyr427=)
20	g.63406999_63407000delinsCT	CA2374774359	KCNQ2	c.2317_2318delinsAG (p.Tyr773Ser) c.2263_2264delinsAG (p.Tyr755Ser) c.1660_1661delinsAG (p.Tyr554Ser) c.2170_2171delinsAG (p.Tyr724Ser) c.1831_1832delinsAG (p.Tyr611Ser) c.2179_2180delinsAG (p.Tyr727Ser) c.2241+46_2241+47delinsAG (n.2241+46_2241+47delinsAG) c.2205+46_2205+47delinsAG (n.2205+46_2205+47delinsAG) c.2209_2210delinsAG (p.Tyr737Ser) c.2133+46_2133+47delinsAG (n.2133+46_2133+47delinsAG) c.1680-6157_1680-6156delinsAG (n.1680-6157_1680-6156delinsAG) c.2305_2306delinsAG (p.Tyr769Ser) c.2371_2372delinsAG (p.Tyr791Ser) c.2368_2369delinsAG (p.Tyr790Ser) c.2341_2342delinsAG (p.Tyr781Ser) c.2287_2288delinsAG (p.Tyr763Ser) c.2260_2261delinsAG (p.Tyr754Ser) c.2245_2246delinsAG (p.Tyr749Ser) c.1852_1853delinsAG (p.Tyr618Ser) c.2314_2315delinsAG (p.Tyr772Ser) c.2251_2252delinsAG (p.Tyr751Ser) c.2248_2249delinsAG (p.Tyr750Ser) c.2206_2207delinsAG (p.Tyr736Ser) c.1279_1280delinsAG (p.Tyr427Ser)	dbSNP
20	g.63406999_63407000delinsTA	CA2374774358	KCNQ2	c.2317_2318delinsTA (p.Tyr773=) c.2263_2264delinsTA (p.Tyr755=) c.1660_1661delinsTA (p.Tyr554=) c.2170_2171delinsTA (p.Tyr724=) c.1831_1832delinsTA (p.Tyr611=) c.2179_2180delinsTA (p.Tyr727=) c.2241+46_2241+47delinsTA (n.2241+46_2241+47delinsTA) c.2205+46_2205+47delinsTA (n.2205+46_2205+47delinsTA) c.2209_2210delinsTA (p.Tyr737=) c.2133+46_2133+47delinsTA (n.2133+46_2133+47delinsTA) c.1680-6157_1680-6156delinsTA (n.1680-6157_1680-6156delinsTA) c.2305_2306delinsTA (p.Tyr769=) c.2371_2372delinsTA (p.Tyr791=) c.2368_2369delinsTA (p.Tyr790=) c.2341_2342delinsTA (p.Tyr781=) c.2287_2288delinsTA (p.Tyr763=) c.2260_2261delinsTA (p.Tyr754=) c.2245_2246delinsTA (p.Tyr749=) c.1852_1853delinsTA (p.Tyr618=) c.2314_2315delinsTA (p.Tyr772=) c.2251_2252delinsTA (p.Tyr751=) c.2248_2249delinsTA (p.Tyr750=) c.2206_2207delinsTA (p.Tyr736=) c.1279_1280delinsTA (p.Tyr427=)
20	g.63407000A>C	CA409638135	KCNQ2	c.2317T>G (p.Tyr773Asp) c.2263T>G (p.Tyr755Asp) c.1660T>G (p.Tyr554Asp) c.2170T>G (p.Tyr724Asp) c.1831T>G (p.Tyr611Asp) c.2179T>G (p.Tyr727Asp) c.2241+46T>G (n.2241+46T>G) c.2205+46T>G (n.2205+46T>G) c.2209T>G (p.Tyr737Asp) c.2133+46T>G (n.2133+46T>G) c.1680-6157T>G (n.1680-6157T>G) c.2305T>G (p.Tyr769Asp) c.2371T>G (p.Tyr791Asp) c.2368T>G (p.Tyr790Asp) c.2341T>G (p.Tyr781Asp) c.2287T>G (p.Tyr763Asp) c.2260T>G (p.Tyr754Asp) c.2245T>G (p.Tyr749Asp) c.1852T>G (p.Tyr618Asp) c.2314T>G (p.Tyr772Asp) c.2251T>G (p.Tyr751Asp) c.2248T>G (p.Tyr750Asp) c.2206T>G (p.Tyr736Asp) c.1279T>G (p.Tyr427Asp)
20	g.63407000A>G	CA409638136	KCNQ2	c.2317T>C (p.Tyr773His) c.2263T>C (p.Tyr755His) c.1660T>C (p.Tyr554His) c.2170T>C (p.Tyr724His) c.1831T>C (p.Tyr611His) c.2179T>C (p.Tyr727His) c.2241+46T>C (n.2241+46T>C) c.2205+46T>C (n.2205+46T>C) c.2209T>C (p.Tyr737His) c.2133+46T>C (n.2133+46T>C) c.1680-6157T>C (n.1680-6157T>C) c.2305T>C (p.Tyr769His) c.2371T>C (p.Tyr791His) c.2368T>C (p.Tyr790His) c.2341T>C (p.Tyr781His) c.2287T>C (p.Tyr763His) c.2260T>C (p.Tyr754His) c.2245T>C (p.Tyr749His) c.1852T>C (p.Tyr618His) c.2314T>C (p.Tyr772His) c.2251T>C (p.Tyr751His) c.2248T>C (p.Tyr750His) c.2206T>C (p.Tyr736His) c.1279T>C (p.Tyr427His)	gnomAD v4
20	g.63407000A>T	CA409638138	KCNQ2	c.2317T>A (p.Tyr773Asn) c.2263T>A (p.Tyr755Asn) c.1660T>A (p.Tyr554Asn) c.2170T>A (p.Tyr724Asn) c.1831T>A (p.Tyr611Asn) c.2179T>A (p.Tyr727Asn) c.2241+46T>A (n.2241+46T>A) c.2205+46T>A (n.2205+46T>A) c.2209T>A (p.Tyr737Asn) c.2133+46T>A (n.2133+46T>A) c.1680-6157T>A (n.1680-6157T>A) c.2305T>A (p.Tyr769Asn) c.2371T>A (p.Tyr791Asn) c.2368T>A (p.Tyr790Asn) c.2341T>A (p.Tyr781Asn) c.2287T>A (p.Tyr763Asn) c.2260T>A (p.Tyr754Asn) c.2245T>A (p.Tyr749Asn) c.1852T>A (p.Tyr618Asn) c.2314T>A (p.Tyr772Asn) c.2251T>A (p.Tyr751Asn) c.2248T>A (p.Tyr750Asn) c.2206T>A (p.Tyr736Asn) c.1279T>A (p.Tyr427Asn)
20	g.63407001G>A	CA9958112	KCNQ2	c.2316C>T (p.Ala772=) c.2262C>T (p.Ala754=) c.1659C>T (p.Ala553=) c.2169C>T (p.Ala723=) c.1830C>T (p.Ala610=) c.2178C>T (p.Ala726=) c.2241+45C>T (n.2241+45C>T) c.2205+45C>T (n.2205+45C>T) c.2208C>T (p.Ala736=) c.2133+45C>T (n.2133+45C>T) c.1680-6158C>T (n.1680-6158C>T) c.2304C>T (p.Ala768=) c.2370C>T (p.Ala790=) c.2367C>T (p.Ala789=) c.2340C>T (p.Ala780=) c.2286C>T (p.Ala762=) c.2259C>T (p.Ala753=) c.2244C>T (p.Ala748=) c.1851C>T (p.Ala617=) c.2313C>T (p.Ala771=) c.2250C>T (p.Ala750=) c.2247C>T (p.Ala749=) c.2205C>T (p.Ala735=) c.1278C>T (p.Ala426=)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.63407001G>C	CA511339391	KCNQ2	c.2316C>G (p.Ala772=) c.2262C>G (p.Ala754=) c.1659C>G (p.Ala553=) c.2169C>G (p.Ala723=) c.1830C>G (p.Ala610=) c.2178C>G (p.Ala726=) c.2241+45C>G (n.2241+45C>G) c.2205+45C>G (n.2205+45C>G) c.2208C>G (p.Ala736=) c.2133+45C>G (n.2133+45C>G) c.1680-6158C>G (n.1680-6158C>G) c.2304C>G (p.Ala768=) c.2370C>G (p.Ala790=) c.2367C>G (p.Ala789=) c.2340C>G (p.Ala780=) c.2286C>G (p.Ala762=) c.2259C>G (p.Ala753=) c.2244C>G (p.Ala748=) c.1851C>G (p.Ala617=) c.2313C>G (p.Ala771=) c.2250C>G (p.Ala750=) c.2247C>G (p.Ala749=) c.2205C>G (p.Ala735=) c.1278C>G (p.Ala426=)
20	g.63407001G=	CA2374774361	KCNQ2	c.2316C= (p.Ala772=) c.2262C= (p.Ala754=) c.1659C= (p.Ala553=) c.2169C= (p.Ala723=) c.1830C= (p.Ala610=) c.2178C= (p.Ala726=) c.2241+45C= (n.2241+45C=) c.2205+45C= (n.2205+45C=) c.2208C= (p.Ala736=) c.2133+45C= (n.2133+45C=) c.1680-6158C= (n.1680-6158C=) c.2304C= (p.Ala768=) c.2370C= (p.Ala790=) c.2367C= (p.Ala789=) c.2340C= (p.Ala780=) c.2286C= (p.Ala762=) c.2259C= (p.Ala753=) c.2244C= (p.Ala748=) c.1851C= (p.Ala617=) c.2313C= (p.Ala771=) c.2250C= (p.Ala750=) c.2247C= (p.Ala749=) c.2205C= (p.Ala735=) c.1278C= (p.Ala426=)
20	g.63407001G>T	CA511339392	KCNQ2	c.2316C>A (p.Ala772=) c.2262C>A (p.Ala754=) c.1659C>A (p.Ala553=) c.2169C>A (p.Ala723=) c.1830C>A (p.Ala610=) c.2178C>A (p.Ala726=) c.2241+45C>A (n.2241+45C>A) c.2205+45C>A (n.2205+45C>A) c.2208C>A (p.Ala736=) c.2133+45C>A (n.2133+45C>A) c.1680-6158C>A (n.1680-6158C>A) c.2304C>A (p.Ala768=) c.2370C>A (p.Ala790=) c.2367C>A (p.Ala789=) c.2340C>A (p.Ala780=) c.2286C>A (p.Ala762=) c.2259C>A (p.Ala753=) c.2244C>A (p.Ala748=) c.1851C>A (p.Ala617=) c.2313C>A (p.Ala771=) c.2250C>A (p.Ala750=) c.2247C>A (p.Ala749=) c.2205C>A (p.Ala735=) c.1278C>A (p.Ala426=)	gnomAD v4
20	g.63407002G>A	CA409638147	KCNQ2	c.2315C>T (p.Ala772Val) c.2261C>T (p.Ala754Val) c.1658C>T (p.Ala553Val) c.2168C>T (p.Ala723Val) c.1829C>T (p.Ala610Val) c.2177C>T (p.Ala726Val) c.2241+44C>T (n.2241+44C>T) c.2205+44C>T (n.2205+44C>T) c.2207C>T (p.Ala736Val) c.2133+44C>T (n.2133+44C>T) c.1680-6159C>T (n.1680-6159C>T) c.2303C>T (p.Ala768Val) c.2369C>T (p.Ala790Val) c.2366C>T (p.Ala789Val) c.2339C>T (p.Ala780Val) c.2285C>T (p.Ala762Val) c.2258C>T (p.Ala753Val) c.2243C>T (p.Ala748Val) c.1850C>T (p.Ala617Val) c.2312C>T (p.Ala771Val) c.2249C>T (p.Ala750Val) c.2246C>T (p.Ala749Val) c.2204C>T (p.Ala735Val) c.1277C>T (p.Ala426Val)	gnomAD v4
20	g.63407002G>C	CA409638150	KCNQ2	c.2315C>G (p.Ala772Gly) c.2261C>G (p.Ala754Gly) c.1658C>G (p.Ala553Gly) c.2168C>G (p.Ala723Gly) c.1829C>G (p.Ala610Gly) c.2177C>G (p.Ala726Gly) c.2241+44C>G (n.2241+44C>G) c.2205+44C>G (n.2205+44C>G) c.2207C>G (p.Ala736Gly) c.2133+44C>G (n.2133+44C>G) c.1680-6159C>G (n.1680-6159C>G) c.2303C>G (p.Ala768Gly) c.2369C>G (p.Ala790Gly) c.2366C>G (p.Ala789Gly) c.2339C>G (p.Ala780Gly) c.2285C>G (p.Ala762Gly) c.2258C>G (p.Ala753Gly) c.2243C>G (p.Ala748Gly) c.1850C>G (p.Ala617Gly) c.2312C>G (p.Ala771Gly) c.2249C>G (p.Ala750Gly) c.2246C>G (p.Ala749Gly) c.2204C>G (p.Ala735Gly) c.1277C>G (p.Ala426Gly)
20	g.63407002G>T	CA409638153	KCNQ2	c.2315C>A (p.Ala772Asp) c.2261C>A (p.Ala754Asp) c.1658C>A (p.Ala553Asp) c.2168C>A (p.Ala723Asp) c.1829C>A (p.Ala610Asp) c.2177C>A (p.Ala726Asp) c.2241+44C>A (n.2241+44C>A) c.2205+44C>A (n.2205+44C>A) c.2207C>A (p.Ala736Asp) c.2133+44C>A (n.2133+44C>A) c.1680-6159C>A (n.1680-6159C>A) c.2303C>A (p.Ala768Asp) c.2369C>A (p.Ala790Asp) c.2366C>A (p.Ala789Asp) c.2339C>A (p.Ala780Asp) c.2285C>A (p.Ala762Asp) c.2258C>A (p.Ala753Asp) c.2243C>A (p.Ala748Asp) c.1850C>A (p.Ala617Asp) c.2312C>A (p.Ala771Asp) c.2249C>A (p.Ala750Asp) c.2246C>A (p.Ala749Asp) c.2204C>A (p.Ala735Asp) c.1277C>A (p.Ala426Asp)	gnomAD v4
20	g.63407003C>A	CA409638159	KCNQ2	c.2314G>T (p.Ala772Ser) c.2260G>T (p.Ala754Ser) c.1657G>T (p.Ala553Ser) c.2167G>T (p.Ala723Ser) c.1828G>T (p.Ala610Ser) c.2176G>T (p.Ala726Ser) c.2241+43G>T (n.2241+43G>T) c.2205+43G>T (n.2205+43G>T) c.2206G>T (p.Ala736Ser) c.2133+43G>T (n.2133+43G>T) c.1680-6160G>T (n.1680-6160G>T) c.2302G>T (p.Ala768Ser) c.2368G>T (p.Ala790Ser) c.2365G>T (p.Ala789Ser) c.2338G>T (p.Ala780Ser) c.2284G>T (p.Ala762Ser) c.2257G>T (p.Ala753Ser) c.2242G>T (p.Ala748Ser) c.1849G>T (p.Ala617Ser) c.2311G>T (p.Ala771Ser) c.2248G>T (p.Ala750Ser) c.2245G>T (p.Ala749Ser) c.2203G>T (p.Ala735Ser) c.1276G>T (p.Ala426Ser)	gnomAD v4
20	g.63407003C=	CA2374774362	KCNQ2	c.2314G= (p.Ala772=) c.2260G= (p.Ala754=) c.1657G= (p.Ala553=) c.2167G= (p.Ala723=) c.1828G= (p.Ala610=) c.2176G= (p.Ala726=) c.2241+43G= (n.2241+43G=) c.2205+43G= (n.2205+43G=) c.2206G= (p.Ala736=) c.2133+43G= (n.2133+43G=) c.1680-6160G= (n.1680-6160G=) c.2302G= (p.Ala768=) c.2368G= (p.Ala790=) c.2365G= (p.Ala789=) c.2338G= (p.Ala780=) c.2284G= (p.Ala762=) c.2257G= (p.Ala753=) c.2242G= (p.Ala748=) c.1849G= (p.Ala617=) c.2311G= (p.Ala771=) c.2248G= (p.Ala750=) c.2245G= (p.Ala749=) c.2203G= (p.Ala735=) c.1276G= (p.Ala426=)
20	g.63407003C>G	CA409638162	KCNQ2	c.2314G>C (p.Ala772Pro) c.2260G>C (p.Ala754Pro) c.1657G>C (p.Ala553Pro) c.2167G>C (p.Ala723Pro) c.1828G>C (p.Ala610Pro) c.2176G>C (p.Ala726Pro) c.2241+43G>C (n.2241+43G>C) c.2205+43G>C (n.2205+43G>C) c.2206G>C (p.Ala736Pro) c.2133+43G>C (n.2133+43G>C) c.1680-6160G>C (n.1680-6160G>C) c.2302G>C (p.Ala768Pro) c.2368G>C (p.Ala790Pro) c.2365G>C (p.Ala789Pro) c.2338G>C (p.Ala780Pro) c.2284G>C (p.Ala762Pro) c.2257G>C (p.Ala753Pro) c.2242G>C (p.Ala748Pro) c.1849G>C (p.Ala617Pro) c.2311G>C (p.Ala771Pro) c.2248G>C (p.Ala750Pro) c.2245G>C (p.Ala749Pro) c.2203G>C (p.Ala735Pro) c.1276G>C (p.Ala426Pro)	ClinVar
20	g.63407003C>T	CA9958113	KCNQ2	c.2314G>A (p.Ala772Thr) c.2260G>A (p.Ala754Thr) c.1657G>A (p.Ala553Thr) c.2167G>A (p.Ala723Thr) c.1828G>A (p.Ala610Thr) c.2176G>A (p.Ala726Thr) c.2241+43G>A (n.2241+43G>A) c.2205+43G>A (n.2205+43G>A) c.2206G>A (p.Ala736Thr) c.2133+43G>A (n.2133+43G>A) c.1680-6160G>A (n.1680-6160G>A) c.2302G>A (p.Ala768Thr) c.2368G>A (p.Ala790Thr) c.2365G>A (p.Ala789Thr) c.2338G>A (p.Ala780Thr) c.2284G>A (p.Ala762Thr) c.2257G>A (p.Ala753Thr) c.2242G>A (p.Ala748Thr) c.1849G>A (p.Ala617Thr) c.2311G>A (p.Ala771Thr) c.2248G>A (p.Ala750Thr) c.2245G>A (p.Ala749Thr) c.2203G>A (p.Ala735Thr) c.1276G>A (p.Ala426Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20	g.63407004G>A	CA9958114	KCNQ2	c.2313C>T (p.Ser771=) c.2259C>T (p.Ser753=) c.1656C>T (p.Ser552=) c.2166C>T (p.Ser722=) c.1827C>T (p.Ser609=) c.2175C>T (p.Ser725=) c.2241+42C>T (n.2241+42C>T) c.2205+42C>T (n.2205+42C>T) c.2205C>T (p.Ser735=) c.2133+42C>T (n.2133+42C>T) c.1680-6161C>T (n.1680-6161C>T) c.2301C>T (p.Ser767=) c.2367C>T (p.Ser789=) c.2364C>T (p.Ser788=) c.2337C>T (p.Ser779=) c.2283C>T (p.Ser761=) c.2256C>T (p.Ser752=) c.2241C>T (p.Ser747=) c.1848C>T (p.Ser616=) c.2310C>T (p.Ser770=) c.2247C>T (p.Ser749=) c.2244C>T (p.Ser748=) c.2202C>T (p.Ser734=) c.1275C>T (p.Ser425=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63407004G>C	CA511339395	KCNQ2	c.2313C>G (p.Ser771=) c.2259C>G (p.Ser753=) c.1656C>G (p.Ser552=) c.2166C>G (p.Ser722=) c.1827C>G (p.Ser609=) c.2175C>G (p.Ser725=) c.2241+42C>G (n.2241+42C>G) c.2205+42C>G (n.2205+42C>G) c.2205C>G (p.Ser735=) c.2133+42C>G (n.2133+42C>G) c.1680-6161C>G (n.1680-6161C>G) c.2301C>G (p.Ser767=) c.2367C>G (p.Ser789=) c.2364C>G (p.Ser788=) c.2337C>G (p.Ser779=) c.2283C>G (p.Ser761=) c.2256C>G (p.Ser752=) c.2241C>G (p.Ser747=) c.1848C>G (p.Ser616=) c.2310C>G (p.Ser770=) c.2247C>G (p.Ser749=) c.2244C>G (p.Ser748=) c.2202C>G (p.Ser734=) c.1275C>G (p.Ser425=)
20	g.63407004G=	CA2374774363	KCNQ2	c.2313C= (p.Ser771=) c.2259C= (p.Ser753=) c.1656C= (p.Ser552=) c.2166C= (p.Ser722=) c.1827C= (p.Ser609=) c.2175C= (p.Ser725=) c.2241+42C= (n.2241+42C=) c.2205+42C= (n.2205+42C=) c.2205C= (p.Ser735=) c.2133+42C= (n.2133+42C=) c.1680-6161C= (n.1680-6161C=) c.2301C= (p.Ser767=) c.2367C= (p.Ser789=) c.2364C= (p.Ser788=) c.2337C= (p.Ser779=) c.2283C= (p.Ser761=) c.2256C= (p.Ser752=) c.2241C= (p.Ser747=) c.1848C= (p.Ser616=) c.2310C= (p.Ser770=) c.2247C= (p.Ser749=) c.2244C= (p.Ser748=) c.2202C= (p.Ser734=) c.1275C= (p.Ser425=)
20	g.63407004G>T	CA511339396	KCNQ2	c.2313C>A (p.Ser771=) c.2259C>A (p.Ser753=) c.1656C>A (p.Ser552=) c.2166C>A (p.Ser722=) c.1827C>A (p.Ser609=) c.2175C>A (p.Ser725=) c.2241+42C>A (n.2241+42C>A) c.2205+42C>A (n.2205+42C>A) c.2205C>A (p.Ser735=) c.2133+42C>A (n.2133+42C>A) c.1680-6161C>A (n.1680-6161C>A) c.2301C>A (p.Ser767=) c.2367C>A (p.Ser789=) c.2364C>A (p.Ser788=) c.2337C>A (p.Ser779=) c.2283C>A (p.Ser761=) c.2256C>A (p.Ser752=) c.2241C>A (p.Ser747=) c.1848C>A (p.Ser616=) c.2310C>A (p.Ser770=) c.2247C>A (p.Ser749=) c.2244C>A (p.Ser748=) c.2202C>A (p.Ser734=) c.1275C>A (p.Ser425=)	gnomAD v4
20	g.63407005G>A	CA409638167	KCNQ2	c.2312C>T (p.Ser771Phe) c.2258C>T (p.Ser753Phe) c.1655C>T (p.Ser552Phe) c.2165C>T (p.Ser722Phe) c.1826C>T (p.Ser609Phe) c.2174C>T (p.Ser725Phe) c.2241+41C>T (n.2241+41C>T) c.2205+41C>T (n.2205+41C>T) c.2204C>T (p.Ser735Phe) c.2133+41C>T (n.2133+41C>T) c.1680-6162C>T (n.1680-6162C>T) c.2300C>T (p.Ser767Phe) c.2366C>T (p.Ser789Phe) c.2363C>T (p.Ser788Phe) c.2336C>T (p.Ser779Phe) c.2282C>T (p.Ser761Phe) c.2255C>T (p.Ser752Phe) c.2240C>T (p.Ser747Phe) c.1847C>T (p.Ser616Phe) c.2309C>T (p.Ser770Phe) c.2246C>T (p.Ser749Phe) c.2243C>T (p.Ser748Phe) c.2201C>T (p.Ser734Phe) c.1274C>T (p.Ser425Phe)	gnomAD v4
20	g.63407005G>C	CA409638169	KCNQ2	c.2312C>G (p.Ser771Cys) c.2258C>G (p.Ser753Cys) c.1655C>G (p.Ser552Cys) c.2165C>G (p.Ser722Cys) c.1826C>G (p.Ser609Cys) c.2174C>G (p.Ser725Cys) c.2241+41C>G (n.2241+41C>G) c.2205+41C>G (n.2205+41C>G) c.2204C>G (p.Ser735Cys) c.2133+41C>G (n.2133+41C>G) c.1680-6162C>G (n.1680-6162C>G) c.2300C>G (p.Ser767Cys) c.2366C>G (p.Ser789Cys) c.2363C>G (p.Ser788Cys) c.2336C>G (p.Ser779Cys) c.2282C>G (p.Ser761Cys) c.2255C>G (p.Ser752Cys) c.2240C>G (p.Ser747Cys) c.1847C>G (p.Ser616Cys) c.2309C>G (p.Ser770Cys) c.2246C>G (p.Ser749Cys) c.2243C>G (p.Ser748Cys) c.2201C>G (p.Ser734Cys) c.1274C>G (p.Ser425Cys)
20	g.63407005G>T	CA409638172	KCNQ2	c.2312C>A (p.Ser771Tyr) c.2258C>A (p.Ser753Tyr) c.1655C>A (p.Ser552Tyr) c.2165C>A (p.Ser722Tyr) c.1826C>A (p.Ser609Tyr) c.2174C>A (p.Ser725Tyr) c.2241+41C>A (n.2241+41C>A) c.2205+41C>A (n.2205+41C>A) c.2204C>A (p.Ser735Tyr) c.2133+41C>A (n.2133+41C>A) c.1680-6162C>A (n.1680-6162C>A) c.2300C>A (p.Ser767Tyr) c.2366C>A (p.Ser789Tyr) c.2363C>A (p.Ser788Tyr) c.2336C>A (p.Ser779Tyr) c.2282C>A (p.Ser761Tyr) c.2255C>A (p.Ser752Tyr) c.2240C>A (p.Ser747Tyr) c.1847C>A (p.Ser616Tyr) c.2309C>A (p.Ser770Tyr) c.2246C>A (p.Ser749Tyr) c.2243C>A (p.Ser748Tyr) c.2201C>A (p.Ser734Tyr) c.1274C>A (p.Ser425Tyr)	gnomAD v4
20	g.63407006A>C	CA409638174	KCNQ2	c.2311T>G (p.Ser771Ala) c.2257T>G (p.Ser753Ala) c.1654T>G (p.Ser552Ala) c.2164T>G (p.Ser722Ala) c.1825T>G (p.Ser609Ala) c.2173T>G (p.Ser725Ala) c.2241+40T>G (n.2241+40T>G) c.2205+40T>G (n.2205+40T>G) c.2203T>G (p.Ser735Ala) c.2133+40T>G (n.2133+40T>G) c.1680-6163T>G (n.1680-6163T>G) c.2299T>G (p.Ser767Ala) c.2365T>G (p.Ser789Ala) c.2362T>G (p.Ser788Ala) c.2335T>G (p.Ser779Ala) c.2281T>G (p.Ser761Ala) c.2254T>G (p.Ser752Ala) c.2239T>G (p.Ser747Ala) c.1846T>G (p.Ser616Ala) c.2308T>G (p.Ser770Ala) c.2245T>G (p.Ser749Ala) c.2242T>G (p.Ser748Ala) c.2200T>G (p.Ser734Ala) c.1273T>G (p.Ser425Ala)
20	g.63407006A>G	CA409638175	KCNQ2	c.2311T>C (p.Ser771Pro) c.2257T>C (p.Ser753Pro) c.1654T>C (p.Ser552Pro) c.2164T>C (p.Ser722Pro) c.1825T>C (p.Ser609Pro) c.2173T>C (p.Ser725Pro) c.2241+40T>C (n.2241+40T>C) c.2205+40T>C (n.2205+40T>C) c.2203T>C (p.Ser735Pro) c.2133+40T>C (n.2133+40T>C) c.1680-6163T>C (n.1680-6163T>C) c.2299T>C (p.Ser767Pro) c.2365T>C (p.Ser789Pro) c.2362T>C (p.Ser788Pro) c.2335T>C (p.Ser779Pro) c.2281T>C (p.Ser761Pro) c.2254T>C (p.Ser752Pro) c.2239T>C (p.Ser747Pro) c.1846T>C (p.Ser616Pro) c.2308T>C (p.Ser770Pro) c.2245T>C (p.Ser749Pro) c.2242T>C (p.Ser748Pro) c.2200T>C (p.Ser734Pro) c.1273T>C (p.Ser425Pro)	gnomAD v4
20	g.63407006A>T	CA409638173	KCNQ2	c.2311T>A (p.Ser771Thr) c.2257T>A (p.Ser753Thr) c.1654T>A (p.Ser552Thr) c.2164T>A (p.Ser722Thr) c.1825T>A (p.Ser609Thr) c.2173T>A (p.Ser725Thr) c.2241+40T>A (n.2241+40T>A) c.2205+40T>A (n.2205+40T>A) c.2203T>A (p.Ser735Thr) c.2133+40T>A (n.2133+40T>A) c.1680-6163T>A (n.1680-6163T>A) c.2299T>A (p.Ser767Thr) c.2365T>A (p.Ser789Thr) c.2362T>A (p.Ser788Thr) c.2335T>A (p.Ser779Thr) c.2281T>A (p.Ser761Thr) c.2254T>A (p.Ser752Thr) c.2239T>A (p.Ser747Thr) c.1846T>A (p.Ser616Thr) c.2308T>A (p.Ser770Thr) c.2245T>A (p.Ser749Thr) c.2242T>A (p.Ser748Thr) c.2200T>A (p.Ser734Thr) c.1273T>A (p.Ser425Thr)
20	g.63407007C>A	CA511339399	KCNQ2	c.2310G>T (p.Leu770=) c.2256G>T (p.Leu752=) c.1653G>T (p.Leu551=) c.2163G>T (p.Leu721=) c.1824G>T (p.Leu608=) c.2172G>T (p.Leu724=) c.2241+39G>T (n.2241+39G>T) c.2205+39G>T (n.2205+39G>T) c.2202G>T (p.Leu734=) c.2133+39G>T (n.2133+39G>T) c.1680-6164G>T (n.1680-6164G>T) c.2298G>T (p.Leu766=) c.2364G>T (p.Leu788=) c.2361G>T (p.Leu787=) c.2334G>T (p.Leu778=) c.2280G>T (p.Leu760=) c.2253G>T (p.Leu751=) c.2238G>T (p.Leu746=) c.1845G>T (p.Leu615=) c.2307G>T (p.Leu769=) c.2244G>T (p.Leu748=) c.2241G>T (p.Leu747=) c.2199G>T (p.Leu733=) c.1272G>T (p.Leu424=)	gnomAD v4
20	g.63407007C>G	CA511339400	KCNQ2	c.2310G>C (p.Leu770=) c.2256G>C (p.Leu752=) c.1653G>C (p.Leu551=) c.2163G>C (p.Leu721=) c.1824G>C (p.Leu608=) c.2172G>C (p.Leu724=) c.2241+39G>C (n.2241+39G>C) c.2205+39G>C (n.2205+39G>C) c.2202G>C (p.Leu734=) c.2133+39G>C (n.2133+39G>C) c.1680-6164G>C (n.1680-6164G>C) c.2298G>C (p.Leu766=) c.2364G>C (p.Leu788=) c.2361G>C (p.Leu787=) c.2334G>C (p.Leu778=) c.2280G>C (p.Leu760=) c.2253G>C (p.Leu751=) c.2238G>C (p.Leu746=) c.1845G>C (p.Leu615=) c.2307G>C (p.Leu769=) c.2244G>C (p.Leu748=) c.2241G>C (p.Leu747=) c.2199G>C (p.Leu733=) c.1272G>C (p.Leu424=)	gnomAD v4
20	g.63407007C>T	CA511339401	KCNQ2	c.2310G>A (p.Leu770=) c.2256G>A (p.Leu752=) c.1653G>A (p.Leu551=) c.2163G>A (p.Leu721=) c.1824G>A (p.Leu608=) c.2172G>A (p.Leu724=) c.2241+39G>A (n.2241+39G>A) c.2205+39G>A (n.2205+39G>A) c.2202G>A (p.Leu734=) c.2133+39G>A (n.2133+39G>A) c.1680-6164G>A (n.1680-6164G>A) c.2298G>A (p.Leu766=) c.2364G>A (p.Leu788=) c.2361G>A (p.Leu787=) c.2334G>A (p.Leu778=) c.2280G>A (p.Leu760=) c.2253G>A (p.Leu751=) c.2238G>A (p.Leu746=) c.1845G>A (p.Leu615=) c.2307G>A (p.Leu769=) c.2244G>A (p.Leu748=) c.2241G>A (p.Leu747=) c.2199G>A (p.Leu733=) c.1272G>A (p.Leu424=)	gnomAD v4
20	g.63407007_63407031del	CA2653805334	KCNQ2	c.2286_2310del (p.Ala765ThrfsTer?) c.2232_2256del (p.Ala747ThrfsTer?) c.1629_1653del (p.Ala546ThrfsTer?) c.2139_2163del (p.Ala716ThrfsTer?) c.1800_1824del (p.Ala603ThrfsTer?) c.2148_2172del (p.Ala719ThrfsTer?) c.2241+15_2241+39del (n.2241+15_2241+39del) c.2205+15_2205+39del (n.2205+15_2205+39del) c.2178_2202del (p.Ala729ThrfsTer?) c.2133+15_2133+39del (n.2133+15_2133+39del) c.1680-6188_1680-6164del (n.1680-6188_1680-6164del) c.2274_2298del (p.Ala761ThrfsTer?) c.2340_2364del (p.Ala783ThrfsTer?) c.2337_2361del (p.Ala782ThrfsTer?) c.2310_2334del (p.Ala773ThrfsTer?) c.2256_2280del (p.Ala755ThrfsTer?) c.2229_2253del (p.Ala746ThrfsTer?) c.2214_2238del (p.Ala741ThrfsTer?) c.1821_1845del (p.Ala610ThrfsTer?) c.2283_2307del (p.Ala764ThrfsTer?) c.2220_2244del (p.Ala743ThrfsTer?) c.2217_2241del (p.Ala742ThrfsTer?) c.2175_2199del (p.Ala728ThrfsTer?) c.1248_1272del (p.Ala419ThrfsTer?)	gnomAD v4
20	g.63407008A>C	CA409638177	KCNQ2	c.2309T>G (p.Leu770Arg) c.2255T>G (p.Leu752Arg) c.1652T>G (p.Leu551Arg) c.2162T>G (p.Leu721Arg) c.1823T>G (p.Leu608Arg) c.2171T>G (p.Leu724Arg) c.2241+38T>G (n.2241+38T>G) c.2205+38T>G (n.2205+38T>G) c.2201T>G (p.Leu734Arg) c.2133+38T>G (n.2133+38T>G) c.1680-6165T>G (n.1680-6165T>G) c.2297T>G (p.Leu766Arg) c.2363T>G (p.Leu788Arg) c.2360T>G (p.Leu787Arg) c.2333T>G (p.Leu778Arg) c.2279T>G (p.Leu760Arg) c.2252T>G (p.Leu751Arg) c.2237T>G (p.Leu746Arg) c.1844T>G (p.Leu615Arg) c.2306T>G (p.Leu769Arg) c.2243T>G (p.Leu748Arg) c.2240T>G (p.Leu747Arg) c.2198T>G (p.Leu733Arg) c.1271T>G (p.Leu424Arg)
20	g.63407008A>G	CA409638180	KCNQ2	c.2309T>C (p.Leu770Pro) c.2255T>C (p.Leu752Pro) c.1652T>C (p.Leu551Pro) c.2162T>C (p.Leu721Pro) c.1823T>C (p.Leu608Pro) c.2171T>C (p.Leu724Pro) c.2241+38T>C (n.2241+38T>C) c.2205+38T>C (n.2205+38T>C) c.2201T>C (p.Leu734Pro) c.2133+38T>C (n.2133+38T>C) c.1680-6165T>C (n.1680-6165T>C) c.2297T>C (p.Leu766Pro) c.2363T>C (p.Leu788Pro) c.2360T>C (p.Leu787Pro) c.2333T>C (p.Leu778Pro) c.2279T>C (p.Leu760Pro) c.2252T>C (p.Leu751Pro) c.2237T>C (p.Leu746Pro) c.1844T>C (p.Leu615Pro) c.2306T>C (p.Leu769Pro) c.2243T>C (p.Leu748Pro) c.2240T>C (p.Leu747Pro) c.2198T>C (p.Leu733Pro) c.1271T>C (p.Leu424Pro)	dbSNP
20	g.63407008A>T	CA409638183	KCNQ2	c.2309T>A (p.Leu770Gln) c.2255T>A (p.Leu752Gln) c.1652T>A (p.Leu551Gln) c.2162T>A (p.Leu721Gln) c.1823T>A (p.Leu608Gln) c.2171T>A (p.Leu724Gln) c.2241+38T>A (n.2241+38T>A) c.2205+38T>A (n.2205+38T>A) c.2201T>A (p.Leu734Gln) c.2133+38T>A (n.2133+38T>A) c.1680-6165T>A (n.1680-6165T>A) c.2297T>A (p.Leu766Gln) c.2363T>A (p.Leu788Gln) c.2360T>A (p.Leu787Gln) c.2333T>A (p.Leu778Gln) c.2279T>A (p.Leu760Gln) c.2252T>A (p.Leu751Gln) c.2237T>A (p.Leu746Gln) c.1844T>A (p.Leu615Gln) c.2306T>A (p.Leu769Gln) c.2243T>A (p.Leu748Gln) c.2240T>A (p.Leu747Gln) c.2198T>A (p.Leu733Gln) c.1271T>A (p.Leu424Gln)
20	g.63407009G>A	CA511339447	KCNQ2	c.2308C>T (p.Leu770=) c.2254C>T (p.Leu752=) c.1651C>T (p.Leu551=) c.2161C>T (p.Leu721=) c.1822C>T (p.Leu608=) c.2170C>T (p.Leu724=) c.2241+37C>T (n.2241+37C>T) c.2205+37C>T (n.2205+37C>T) c.2200C>T (p.Leu734=) c.2133+37C>T (n.2133+37C>T) c.1680-6166C>T (n.1680-6166C>T) c.2296C>T (p.Leu766=) c.2362C>T (p.Leu788=) c.2359C>T (p.Leu787=) c.2332C>T (p.Leu778=) c.2278C>T (p.Leu760=) c.2251C>T (p.Leu751=) c.2236C>T (p.Leu746=) c.1843C>T (p.Leu615=) c.2305C>T (p.Leu769=) c.2242C>T (p.Leu748=) c.2239C>T (p.Leu747=) c.2197C>T (p.Leu733=) c.1270C>T (p.Leu424=)	gnomAD v4
20	g.63407009G>C	CA409638190	KCNQ2	c.2308C>G (p.Leu770Val) c.2254C>G (p.Leu752Val) c.1651C>G (p.Leu551Val) c.2161C>G (p.Leu721Val) c.1822C>G (p.Leu608Val) c.2170C>G (p.Leu724Val) c.2241+37C>G (n.2241+37C>G) c.2205+37C>G (n.2205+37C>G) c.2200C>G (p.Leu734Val) c.2133+37C>G (n.2133+37C>G) c.1680-6166C>G (n.1680-6166C>G) c.2296C>G (p.Leu766Val) c.2362C>G (p.Leu788Val) c.2359C>G (p.Leu787Val) c.2332C>G (p.Leu778Val) c.2278C>G (p.Leu760Val) c.2251C>G (p.Leu751Val) c.2236C>G (p.Leu746Val) c.1843C>G (p.Leu615Val) c.2305C>G (p.Leu769Val) c.2242C>G (p.Leu748Val) c.2239C>G (p.Leu747Val) c.2197C>G (p.Leu733Val) c.1270C>G (p.Leu424Val)
20	g.63407009G>T	CA409638193	KCNQ2	c.2308C>A (p.Leu770Met) c.2254C>A (p.Leu752Met) c.1651C>A (p.Leu551Met) c.2161C>A (p.Leu721Met) c.1822C>A (p.Leu608Met) c.2170C>A (p.Leu724Met) c.2241+37C>A (n.2241+37C>A) c.2205+37C>A (n.2205+37C>A) c.2200C>A (p.Leu734Met) c.2133+37C>A (n.2133+37C>A) c.1680-6166C>A (n.1680-6166C>A) c.2296C>A (p.Leu766Met) c.2362C>A (p.Leu788Met) c.2359C>A (p.Leu787Met) c.2332C>A (p.Leu778Met) c.2278C>A (p.Leu760Met) c.2251C>A (p.Leu751Met) c.2236C>A (p.Leu746Met) c.1843C>A (p.Leu615Met) c.2305C>A (p.Leu769Met) c.2242C>A (p.Leu748Met) c.2239C>A (p.Leu747Met) c.2197C>A (p.Leu733Met) c.1270C>A (p.Leu424Met)	gnomAD v4
20	g.63407010C>A	CA511339449	KCNQ2	c.2307G>T (p.Ser769=) c.2253G>T (p.Ser751=) c.1650G>T (p.Ser550=) c.2160G>T (p.Ser720=) c.1821G>T (p.Ser607=) c.2169G>T (p.Ser723=) c.2241+36G>T (n.2241+36G>T) c.2205+36G>T (n.2205+36G>T) c.2199G>T (p.Ser733=) c.2133+36G>T (n.2133+36G>T) c.1680-6167G>T (n.1680-6167G>T) c.2295G>T (p.Ser765=) c.2361G>T (p.Ser787=) c.2358G>T (p.Ser786=) c.2331G>T (p.Ser777=) c.2277G>T (p.Ser759=) c.2250G>T (p.Ser750=) c.2235G>T (p.Ser745=) c.1842G>T (p.Ser614=) c.2304G>T (p.Ser768=) c.2241G>T (p.Ser747=) c.2238G>T (p.Ser746=) c.2196G>T (p.Ser732=) c.1269G>T (p.Ser423=)	gnomAD v4
20	g.63407010C=	CA2374774364	KCNQ2	c.2307G= (p.Ser769=) c.2253G= (p.Ser751=) c.1650G= (p.Ser550=) c.2160G= (p.Ser720=) c.1821G= (p.Ser607=) c.2169G= (p.Ser723=) c.2241+36G= (n.2241+36G=) c.2205+36G= (n.2205+36G=) c.2199G= (p.Ser733=) c.2133+36G= (n.2133+36G=) c.1680-6167G= (n.1680-6167G=) c.2295G= (p.Ser765=) c.2361G= (p.Ser787=) c.2358G= (p.Ser786=) c.2331G= (p.Ser777=) c.2277G= (p.Ser759=) c.2250G= (p.Ser750=) c.2235G= (p.Ser745=) c.1842G= (p.Ser614=) c.2304G= (p.Ser768=) c.2241G= (p.Ser747=) c.2238G= (p.Ser746=) c.2196G= (p.Ser732=) c.1269G= (p.Ser423=)
20	g.63407010C>G	CA511339448	KCNQ2	c.2307G>C (p.Ser769=) c.2253G>C (p.Ser751=) c.1650G>C (p.Ser550=) c.2160G>C (p.Ser720=) c.1821G>C (p.Ser607=) c.2169G>C (p.Ser723=) c.2241+36G>C (n.2241+36G>C) c.2205+36G>C (n.2205+36G>C) c.2199G>C (p.Ser733=) c.2133+36G>C (n.2133+36G>C) c.1680-6167G>C (n.1680-6167G>C) c.2295G>C (p.Ser765=) c.2361G>C (p.Ser787=) c.2358G>C (p.Ser786=) c.2331G>C (p.Ser777=) c.2277G>C (p.Ser759=) c.2250G>C (p.Ser750=) c.2235G>C (p.Ser745=) c.1842G>C (p.Ser614=) c.2304G>C (p.Ser768=) c.2241G>C (p.Ser747=) c.2238G>C (p.Ser746=) c.2196G>C (p.Ser732=) c.1269G>C (p.Ser423=)
20	g.63407010C>T	CA9958115	KCNQ2	c.2307G>A (p.Ser769=) c.2253G>A (p.Ser751=) c.1650G>A (p.Ser550=) c.2160G>A (p.Ser720=) c.1821G>A (p.Ser607=) c.2169G>A (p.Ser723=) c.2241+36G>A (n.2241+36G>A) c.2205+36G>A (n.2205+36G>A) c.2199G>A (p.Ser733=) c.2133+36G>A (n.2133+36G>A) c.1680-6167G>A (n.1680-6167G>A) c.2295G>A (p.Ser765=) c.2361G>A (p.Ser787=) c.2358G>A (p.Ser786=) c.2331G>A (p.Ser777=) c.2277G>A (p.Ser759=) c.2250G>A (p.Ser750=) c.2235G>A (p.Ser745=) c.1842G>A (p.Ser614=) c.2304G>A (p.Ser768=) c.2241G>A (p.Ser747=) c.2238G>A (p.Ser746=) c.2196G>A (p.Ser732=) c.1269G>A (p.Ser423=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63407011G>A	CA9958116	KCNQ2	c.2306C>T (p.Ser769Leu) c.2252C>T (p.Ser751Leu) c.1649C>T (p.Ser550Leu) c.2159C>T (p.Ser720Leu) c.1820C>T (p.Ser607Leu) c.2168C>T (p.Ser723Leu) c.2241+35C>T (n.2241+35C>T) c.2205+35C>T (n.2205+35C>T) c.2198C>T (p.Ser733Leu) c.2133+35C>T (n.2133+35C>T) c.1680-6168C>T (n.1680-6168C>T) c.2294C>T (p.Ser765Leu) c.2360C>T (p.Ser787Leu) c.2357C>T (p.Ser786Leu) c.2330C>T (p.Ser777Leu) c.2276C>T (p.Ser759Leu) c.2249C>T (p.Ser750Leu) c.2234C>T (p.Ser745Leu) c.1841C>T (p.Ser614Leu) c.2303C>T (p.Ser768Leu) c.2240C>T (p.Ser747Leu) c.2237C>T (p.Ser746Leu) c.2195C>T (p.Ser732Leu) c.1268C>T (p.Ser423Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63407011G>C	CA409638204	KCNQ2	c.2306C>G (p.Ser769Trp) c.2252C>G (p.Ser751Trp) c.1649C>G (p.Ser550Trp) c.2159C>G (p.Ser720Trp) c.1820C>G (p.Ser607Trp) c.2168C>G (p.Ser723Trp) c.2241+35C>G (n.2241+35C>G) c.2205+35C>G (n.2205+35C>G) c.2198C>G (p.Ser733Trp) c.2133+35C>G (n.2133+35C>G) c.1680-6168C>G (n.1680-6168C>G) c.2294C>G (p.Ser765Trp) c.2360C>G (p.Ser787Trp) c.2357C>G (p.Ser786Trp) c.2330C>G (p.Ser777Trp) c.2276C>G (p.Ser759Trp) c.2249C>G (p.Ser750Trp) c.2234C>G (p.Ser745Trp) c.1841C>G (p.Ser614Trp) c.2303C>G (p.Ser768Trp) c.2240C>G (p.Ser747Trp) c.2237C>G (p.Ser746Trp) c.2195C>G (p.Ser732Trp) c.1268C>G (p.Ser423Trp)
20	g.63407011G=	CA2374774365	KCNQ2	c.2306C= (p.Ser769=) c.2252C= (p.Ser751=) c.1649C= (p.Ser550=) c.2159C= (p.Ser720=) c.1820C= (p.Ser607=) c.2168C= (p.Ser723=) c.2241+35C= (n.2241+35C=) c.2205+35C= (n.2205+35C=) c.2198C= (p.Ser733=) c.2133+35C= (n.2133+35C=) c.1680-6168C= (n.1680-6168C=) c.2294C= (p.Ser765=) c.2360C= (p.Ser787=) c.2357C= (p.Ser786=) c.2330C= (p.Ser777=) c.2276C= (p.Ser759=) c.2249C= (p.Ser750=) c.2234C= (p.Ser745=) c.1841C= (p.Ser614=) c.2303C= (p.Ser768=) c.2240C= (p.Ser747=) c.2237C= (p.Ser746=) c.2195C= (p.Ser732=) c.1268C= (p.Ser423=)
20	g.63407011G>T	CA409638206	KCNQ2	c.2306C>A (p.Ser769Ter) c.2252C>A (p.Ser751Ter) c.1649C>A (p.Ser550Ter) c.2159C>A (p.Ser720Ter) c.1820C>A (p.Ser607Ter) c.2168C>A (p.Ser723Ter) c.2241+35C>A (n.2241+35C>A) c.2205+35C>A (n.2205+35C>A) c.2198C>A (p.Ser733Ter) c.2133+35C>A (n.2133+35C>A) c.1680-6168C>A (n.1680-6168C>A) c.2294C>A (p.Ser765Ter) c.2360C>A (p.Ser787Ter) c.2357C>A (p.Ser786Ter) c.2330C>A (p.Ser777Ter) c.2276C>A (p.Ser759Ter) c.2249C>A (p.Ser750Ter) c.2234C>A (p.Ser745Ter) c.1841C>A (p.Ser614Ter) c.2303C>A (p.Ser768Ter) c.2240C>A (p.Ser747Ter) c.2237C>A (p.Ser746Ter) c.2195C>A (p.Ser732Ter) c.1268C>A (p.Ser423Ter)	gnomAD v4
20	g.63407012A>C	CA409638208	KCNQ2	c.2305T>G (p.Ser769Ala) c.2251T>G (p.Ser751Ala) c.1648T>G (p.Ser550Ala) c.2158T>G (p.Ser720Ala) c.1819T>G (p.Ser607Ala) c.2167T>G (p.Ser723Ala) c.2241+34T>G (n.2241+34T>G) c.2205+34T>G (n.2205+34T>G) c.2197T>G (p.Ser733Ala) c.2133+34T>G (n.2133+34T>G) c.1680-6169T>G (n.1680-6169T>G) c.2293T>G (p.Ser765Ala) c.2359T>G (p.Ser787Ala) c.2356T>G (p.Ser786Ala) c.2329T>G (p.Ser777Ala) c.2275T>G (p.Ser759Ala) c.2248T>G (p.Ser750Ala) c.2233T>G (p.Ser745Ala) c.1840T>G (p.Ser614Ala) c.2302T>G (p.Ser768Ala) c.2239T>G (p.Ser747Ala) c.2236T>G (p.Ser746Ala) c.2194T>G (p.Ser732Ala) c.1267T>G (p.Ser423Ala)	gnomAD v4
20	g.63407012A>G	CA409638210	KCNQ2	c.2305T>C (p.Ser769Pro) c.2251T>C (p.Ser751Pro) c.1648T>C (p.Ser550Pro) c.2158T>C (p.Ser720Pro) c.1819T>C (p.Ser607Pro) c.2167T>C (p.Ser723Pro) c.2241+34T>C (n.2241+34T>C) c.2205+34T>C (n.2205+34T>C) c.2197T>C (p.Ser733Pro) c.2133+34T>C (n.2133+34T>C) c.1680-6169T>C (n.1680-6169T>C) c.2293T>C (p.Ser765Pro) c.2359T>C (p.Ser787Pro) c.2356T>C (p.Ser786Pro) c.2329T>C (p.Ser777Pro) c.2275T>C (p.Ser759Pro) c.2248T>C (p.Ser750Pro) c.2233T>C (p.Ser745Pro) c.1840T>C (p.Ser614Pro) c.2302T>C (p.Ser768Pro) c.2239T>C (p.Ser747Pro) c.2236T>C (p.Ser746Pro) c.2194T>C (p.Ser732Pro) c.1267T>C (p.Ser423Pro)	gnomAD v4
20	g.63407012A>T	CA409638213	KCNQ2	c.2305T>A (p.Ser769Thr) c.2251T>A (p.Ser751Thr) c.1648T>A (p.Ser550Thr) c.2158T>A (p.Ser720Thr) c.1819T>A (p.Ser607Thr) c.2167T>A (p.Ser723Thr) c.2241+34T>A (n.2241+34T>A) c.2205+34T>A (n.2205+34T>A) c.2197T>A (p.Ser733Thr) c.2133+34T>A (n.2133+34T>A) c.1680-6169T>A (n.1680-6169T>A) c.2293T>A (p.Ser765Thr) c.2359T>A (p.Ser787Thr) c.2356T>A (p.Ser786Thr) c.2329T>A (p.Ser777Thr) c.2275T>A (p.Ser759Thr) c.2248T>A (p.Ser750Thr) c.2233T>A (p.Ser745Thr) c.1840T>A (p.Ser614Thr) c.2302T>A (p.Ser768Thr) c.2239T>A (p.Ser747Thr) c.2236T>A (p.Ser746Thr) c.2194T>A (p.Ser732Thr) c.1267T>A (p.Ser423Thr)
20	g.63407013C>A	CA511339450	KCNQ2	c.2304G>T (p.Arg768=) c.2250G>T (p.Arg750=) c.1647G>T (p.Arg549=) c.2157G>T (p.Arg719=) c.1818G>T (p.Arg606=) c.2166G>T (p.Arg722=) c.2241+33G>T (n.2241+33G>T) c.2205+33G>T (n.2205+33G>T) c.2196G>T (p.Arg732=) c.2133+33G>T (n.2133+33G>T) c.1680-6170G>T (n.1680-6170G>T) c.2292G>T (p.Arg764=) c.2358G>T (p.Arg786=) c.2355G>T (p.Arg785=) c.2328G>T (p.Arg776=) c.2274G>T (p.Arg758=) c.2247G>T (p.Arg749=) c.2232G>T (p.Arg744=) c.1839G>T (p.Arg613=) c.2301G>T (p.Arg767=) c.2238G>T (p.Arg746=) c.2235G>T (p.Arg745=) c.2193G>T (p.Arg731=) c.1266G>T (p.Arg422=)	gnomAD v4
20	g.63407013C=	CA2374774366	KCNQ2	c.2304G= (p.Arg768=) c.2250G= (p.Arg750=) c.1647G= (p.Arg549=) c.2157G= (p.Arg719=) c.1818G= (p.Arg606=) c.2166G= (p.Arg722=) c.2241+33G= (n.2241+33G=) c.2205+33G= (n.2205+33G=) c.2196G= (p.Arg732=) c.2133+33G= (n.2133+33G=) c.1680-6170G= (n.1680-6170G=) c.2292G= (p.Arg764=) c.2358G= (p.Arg786=) c.2355G= (p.Arg785=) c.2328G= (p.Arg776=) c.2274G= (p.Arg758=) c.2247G= (p.Arg749=) c.2232G= (p.Arg744=) c.1839G= (p.Arg613=) c.2301G= (p.Arg767=) c.2238G= (p.Arg746=) c.2235G= (p.Arg745=) c.2193G= (p.Arg731=) c.1266G= (p.Arg422=)
20	g.63407013C>G	CA511339451	KCNQ2	c.2304G>C (p.Arg768=) c.2250G>C (p.Arg750=) c.1647G>C (p.Arg549=) c.2157G>C (p.Arg719=) c.1818G>C (p.Arg606=) c.2166G>C (p.Arg722=) c.2241+33G>C (n.2241+33G>C) c.2205+33G>C (n.2205+33G>C) c.2196G>C (p.Arg732=) c.2133+33G>C (n.2133+33G>C) c.1680-6170G>C (n.1680-6170G>C) c.2292G>C (p.Arg764=) c.2358G>C (p.Arg786=) c.2355G>C (p.Arg785=) c.2328G>C (p.Arg776=) c.2274G>C (p.Arg758=) c.2247G>C (p.Arg749=) c.2232G>C (p.Arg744=) c.1839G>C (p.Arg613=) c.2301G>C (p.Arg767=) c.2238G>C (p.Arg746=) c.2235G>C (p.Arg745=) c.2193G>C (p.Arg731=) c.1266G>C (p.Arg422=)
20	g.63407013C>T	CA511339452	KCNQ2	c.2304G>A (p.Arg768=) c.2250G>A (p.Arg750=) c.1647G>A (p.Arg549=) c.2157G>A (p.Arg719=) c.1818G>A (p.Arg606=) c.2166G>A (p.Arg722=) c.2241+33G>A (n.2241+33G>A) c.2205+33G>A (n.2205+33G>A) c.2196G>A (p.Arg732=) c.2133+33G>A (n.2133+33G>A) c.1680-6170G>A (n.1680-6170G>A) c.2292G>A (p.Arg764=) c.2358G>A (p.Arg786=) c.2355G>A (p.Arg785=) c.2328G>A (p.Arg776=) c.2274G>A (p.Arg758=) c.2247G>A (p.Arg749=) c.2232G>A (p.Arg744=) c.1839G>A (p.Arg613=) c.2301G>A (p.Arg767=) c.2238G>A (p.Arg746=) c.2235G>A (p.Arg745=) c.2193G>A (p.Arg731=) c.1266G>A (p.Arg422=)	dbSNP gnomAD v4
20	g.63407014C>A	CA409638219	KCNQ2	c.2303G>T (p.Arg768Leu) c.2249G>T (p.Arg750Leu) c.1646G>T (p.Arg549Leu) c.2156G>T (p.Arg719Leu) c.1817G>T (p.Arg606Leu) c.2165G>T (p.Arg722Leu) c.2241+32G>T (n.2241+32G>T) c.2205+32G>T (n.2205+32G>T) c.2195G>T (p.Arg732Leu) c.2133+32G>T (n.2133+32G>T) c.1680-6171G>T (n.1680-6171G>T) c.2291G>T (p.Arg764Leu) c.2357G>T (p.Arg786Leu) c.2354G>T (p.Arg785Leu) c.2327G>T (p.Arg776Leu) c.2273G>T (p.Arg758Leu) c.2246G>T (p.Arg749Leu) c.2231G>T (p.Arg744Leu) c.1838G>T (p.Arg613Leu) c.2300G>T (p.Arg767Leu) c.2237G>T (p.Arg746Leu) c.2234G>T (p.Arg745Leu) c.2192G>T (p.Arg731Leu) c.1265G>T (p.Arg422Leu)	gnomAD v4
20	g.63407014C=	CA2374774367	KCNQ2	c.2303G= (p.Arg768=) c.2249G= (p.Arg750=) c.1646G= (p.Arg549=) c.2156G= (p.Arg719=) c.1817G= (p.Arg606=) c.2165G= (p.Arg722=) c.2241+32G= (n.2241+32G=) c.2205+32G= (n.2205+32G=) c.2195G= (p.Arg732=) c.2133+32G= (n.2133+32G=) c.1680-6171G= (n.1680-6171G=) c.2291G= (p.Arg764=) c.2357G= (p.Arg786=) c.2354G= (p.Arg785=) c.2327G= (p.Arg776=) c.2273G= (p.Arg758=) c.2246G= (p.Arg749=) c.2231G= (p.Arg744=) c.1838G= (p.Arg613=) c.2300G= (p.Arg767=) c.2237G= (p.Arg746=) c.2234G= (p.Arg745=) c.2192G= (p.Arg731=) c.1265G= (p.Arg422=)
20	g.63407014C>G	CA409638221	KCNQ2	c.2303G>C (p.Arg768Pro) c.2249G>C (p.Arg750Pro) c.1646G>C (p.Arg549Pro) c.2156G>C (p.Arg719Pro) c.1817G>C (p.Arg606Pro) c.2165G>C (p.Arg722Pro) c.2241+32G>C (n.2241+32G>C) c.2205+32G>C (n.2205+32G>C) c.2195G>C (p.Arg732Pro) c.2133+32G>C (n.2133+32G>C) c.1680-6171G>C (n.1680-6171G>C) c.2291G>C (p.Arg764Pro) c.2357G>C (p.Arg786Pro) c.2354G>C (p.Arg785Pro) c.2327G>C (p.Arg776Pro) c.2273G>C (p.Arg758Pro) c.2246G>C (p.Arg749Pro) c.2231G>C (p.Arg744Pro) c.1838G>C (p.Arg613Pro) c.2300G>C (p.Arg767Pro) c.2237G>C (p.Arg746Pro) c.2234G>C (p.Arg745Pro) c.2192G>C (p.Arg731Pro) c.1265G>C (p.Arg422Pro)
20	g.63407014C>T	CA409638217	KCNQ2	c.2303G>A (p.Arg768Gln) c.2249G>A (p.Arg750Gln) c.1646G>A (p.Arg549Gln) c.2156G>A (p.Arg719Gln) c.1817G>A (p.Arg606Gln) c.2165G>A (p.Arg722Gln) c.2241+32G>A (n.2241+32G>A) c.2205+32G>A (n.2205+32G>A) c.2195G>A (p.Arg732Gln) c.2133+32G>A (n.2133+32G>A) c.1680-6171G>A (n.1680-6171G>A) c.2291G>A (p.Arg764Gln) c.2357G>A (p.Arg786Gln) c.2354G>A (p.Arg785Gln) c.2327G>A (p.Arg776Gln) c.2273G>A (p.Arg758Gln) c.2246G>A (p.Arg749Gln) c.2231G>A (p.Arg744Gln) c.1838G>A (p.Arg613Gln) c.2300G>A (p.Arg767Gln) c.2237G>A (p.Arg746Gln) c.2234G>A (p.Arg745Gln) c.2192G>A (p.Arg731Gln) c.1265G>A (p.Arg422Gln)	dbSNP gnomAD v2 gnomAD v4
20	g.63407015G>A	CA409638228	KCNQ2	c.2302C>T (p.Arg768Trp) c.2248C>T (p.Arg750Trp) c.1645C>T (p.Arg549Trp) c.2155C>T (p.Arg719Trp) c.1816C>T (p.Arg606Trp) c.2164C>T (p.Arg722Trp) c.2241+31C>T (n.2241+31C>T) c.2205+31C>T (n.2205+31C>T) c.2194C>T (p.Arg732Trp) c.2133+31C>T (n.2133+31C>T) c.1680-6172C>T (n.1680-6172C>T) c.2290C>T (p.Arg764Trp) c.2356C>T (p.Arg786Trp) c.2353C>T (p.Arg785Trp) c.2326C>T (p.Arg776Trp) c.2272C>T (p.Arg758Trp) c.2245C>T (p.Arg749Trp) c.2230C>T (p.Arg744Trp) c.1837C>T (p.Arg613Trp) c.2299C>T (p.Arg767Trp) c.2236C>T (p.Arg746Trp) c.2233C>T (p.Arg745Trp) c.2191C>T (p.Arg731Trp) c.1264C>T (p.Arg422Trp)	ClinVar dbSNP gnomAD v4
20	g.63407015G>C	CA409638232	KCNQ2	c.2302C>G (p.Arg768Gly) c.2248C>G (p.Arg750Gly) c.1645C>G (p.Arg549Gly) c.2155C>G (p.Arg719Gly) c.1816C>G (p.Arg606Gly) c.2164C>G (p.Arg722Gly) c.2241+31C>G (n.2241+31C>G) c.2205+31C>G (n.2205+31C>G) c.2194C>G (p.Arg732Gly) c.2133+31C>G (n.2133+31C>G) c.1680-6172C>G (n.1680-6172C>G) c.2290C>G (p.Arg764Gly) c.2356C>G (p.Arg786Gly) c.2353C>G (p.Arg785Gly) c.2326C>G (p.Arg776Gly) c.2272C>G (p.Arg758Gly) c.2245C>G (p.Arg749Gly) c.2230C>G (p.Arg744Gly) c.1837C>G (p.Arg613Gly) c.2299C>G (p.Arg767Gly) c.2236C>G (p.Arg746Gly) c.2233C>G (p.Arg745Gly) c.2191C>G (p.Arg731Gly) c.1264C>G (p.Arg422Gly)	dbSNP
20	g.63407015G=	CA2374774368	KCNQ2	c.2302C= (p.Arg768=) c.2248C= (p.Arg750=) c.1645C= (p.Arg549=) c.2155C= (p.Arg719=) c.1816C= (p.Arg606=) c.2164C= (p.Arg722=) c.2241+31C= (n.2241+31C=) c.2205+31C= (n.2205+31C=) c.2194C= (p.Arg732=) c.2133+31C= (n.2133+31C=) c.1680-6172C= (n.1680-6172C=) c.2290C= (p.Arg764=) c.2356C= (p.Arg786=) c.2353C= (p.Arg785=) c.2326C= (p.Arg776=) c.2272C= (p.Arg758=) c.2245C= (p.Arg749=) c.2230C= (p.Arg744=) c.1837C= (p.Arg613=) c.2299C= (p.Arg767=) c.2236C= (p.Arg746=) c.2233C= (p.Arg745=) c.2191C= (p.Arg731=) c.1264C= (p.Arg422=)
20	g.63407015G>T	CA9958117	KCNQ2	c.2302C>A (p.Arg768=) c.2248C>A (p.Arg750=) c.1645C>A (p.Arg549=) c.2155C>A (p.Arg719=) c.1816C>A (p.Arg606=) c.2164C>A (p.Arg722=) c.2241+31C>A (n.2241+31C>A) c.2205+31C>A (n.2205+31C>A) c.2194C>A (p.Arg732=) c.2133+31C>A (n.2133+31C>A) c.1680-6172C>A (n.1680-6172C>A) c.2290C>A (p.Arg764=) c.2356C>A (p.Arg786=) c.2353C>A (p.Arg785=) c.2326C>A (p.Arg776=) c.2272C>A (p.Arg758=) c.2245C>A (p.Arg749=) c.2230C>A (p.Arg744=) c.1837C>A (p.Arg613=) c.2299C>A (p.Arg767=) c.2236C>A (p.Arg746=) c.2233C>A (p.Arg745=) c.2191C>A (p.Arg731=) c.1264C>A (p.Arg422=)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.63407016C>A	CA409638237	KCNQ2	c.2301G>T (p.Glu767Asp) c.2247G>T (p.Glu749Asp) c.1644G>T (p.Glu548Asp) c.2154G>T (p.Glu718Asp) c.1815G>T (p.Glu605Asp) c.2163G>T (p.Glu721Asp) c.2241+30G>T (n.2241+30G>T) c.2205+30G>T (n.2205+30G>T) c.2193G>T (p.Glu731Asp) c.2133+30G>T (n.2133+30G>T) c.1680-6173G>T (n.1680-6173G>T) c.2289G>T (p.Glu763Asp) c.2355G>T (p.Glu785Asp) c.2352G>T (p.Glu784Asp) c.2325G>T (p.Glu775Asp) c.2271G>T (p.Glu757Asp) c.2244G>T (p.Glu748Asp) c.2229G>T (p.Glu743Asp) c.1836G>T (p.Glu612Asp) c.2298G>T (p.Glu766Asp) c.2235G>T (p.Glu745Asp) c.2232G>T (p.Glu744Asp) c.2190G>T (p.Glu730Asp) c.1263G>T (p.Glu421Asp)	gnomAD v4
20	g.63407016C>G	CA409638239	KCNQ2	c.2301G>C (p.Glu767Asp) c.2247G>C (p.Glu749Asp) c.1644G>C (p.Glu548Asp) c.2154G>C (p.Glu718Asp) c.1815G>C (p.Glu605Asp) c.2163G>C (p.Glu721Asp) c.2241+30G>C (n.2241+30G>C) c.2205+30G>C (n.2205+30G>C) c.2193G>C (p.Glu731Asp) c.2133+30G>C (n.2133+30G>C) c.1680-6173G>C (n.1680-6173G>C) c.2289G>C (p.Glu763Asp) c.2355G>C (p.Glu785Asp) c.2352G>C (p.Glu784Asp) c.2325G>C (p.Glu775Asp) c.2271G>C (p.Glu757Asp) c.2244G>C (p.Glu748Asp) c.2229G>C (p.Glu743Asp) c.1836G>C (p.Glu612Asp) c.2298G>C (p.Glu766Asp) c.2235G>C (p.Glu745Asp) c.2232G>C (p.Glu744Asp) c.2190G>C (p.Glu730Asp) c.1263G>C (p.Glu421Asp)
20	g.63407016C>T	CA511339453	KCNQ2	c.2301G>A (p.Glu767=) c.2247G>A (p.Glu749=) c.1644G>A (p.Glu548=) c.2154G>A (p.Glu718=) c.1815G>A (p.Glu605=) c.2163G>A (p.Glu721=) c.2241+30G>A (n.2241+30G>A) c.2205+30G>A (n.2205+30G>A) c.2193G>A (p.Glu731=) c.2133+30G>A (n.2133+30G>A) c.1680-6173G>A (n.1680-6173G>A) c.2289G>A (p.Glu763=) c.2355G>A (p.Glu785=) c.2352G>A (p.Glu784=) c.2325G>A (p.Glu775=) c.2271G>A (p.Glu757=) c.2244G>A (p.Glu748=) c.2229G>A (p.Glu743=) c.1836G>A (p.Glu612=) c.2298G>A (p.Glu766=) c.2235G>A (p.Glu745=) c.2232G>A (p.Glu744=) c.2190G>A (p.Glu730=) c.1263G>A (p.Glu421=)	ClinVar gnomAD v4
20	g.63407017T>A	CA409638251	KCNQ2	c.2300A>T (p.Glu767Val) c.2246A>T (p.Glu749Val) c.1643A>T (p.Glu548Val) c.2153A>T (p.Glu718Val) c.1814A>T (p.Glu605Val) c.2162A>T (p.Glu721Val) c.2241+29A>T (n.2241+29A>T) c.2205+29A>T (n.2205+29A>T) c.2192A>T (p.Glu731Val) c.2133+29A>T (n.2133+29A>T) c.1680-6174A>T (n.1680-6174A>T) c.2288A>T (p.Glu763Val) c.2354A>T (p.Glu785Val) c.2351A>T (p.Glu784Val) c.2324A>T (p.Glu775Val) c.2270A>T (p.Glu757Val) c.2243A>T (p.Glu748Val) c.2228A>T (p.Glu743Val) c.1835A>T (p.Glu612Val) c.2297A>T (p.Glu766Val) c.2234A>T (p.Glu745Val) c.2231A>T (p.Glu744Val) c.2189A>T (p.Glu730Val) c.1262A>T (p.Glu421Val)
20	g.63407017T>C	CA409638245	KCNQ2	c.2300A>G (p.Glu767Gly) c.2246A>G (p.Glu749Gly) c.1643A>G (p.Glu548Gly) c.2153A>G (p.Glu718Gly) c.1814A>G (p.Glu605Gly) c.2162A>G (p.Glu721Gly) c.2241+29A>G (n.2241+29A>G) c.2205+29A>G (n.2205+29A>G) c.2192A>G (p.Glu731Gly) c.2133+29A>G (n.2133+29A>G) c.1680-6174A>G (n.1680-6174A>G) c.2288A>G (p.Glu763Gly) c.2354A>G (p.Glu785Gly) c.2351A>G (p.Glu784Gly) c.2324A>G (p.Glu775Gly) c.2270A>G (p.Glu757Gly) c.2243A>G (p.Glu748Gly) c.2228A>G (p.Glu743Gly) c.1835A>G (p.Glu612Gly) c.2297A>G (p.Glu766Gly) c.2234A>G (p.Glu745Gly) c.2231A>G (p.Glu744Gly) c.2189A>G (p.Glu730Gly) c.1262A>G (p.Glu421Gly)
20	g.63407017T>G	CA409638248	KCNQ2	c.2300A>C (p.Glu767Ala) c.2246A>C (p.Glu749Ala) c.1643A>C (p.Glu548Ala) c.2153A>C (p.Glu718Ala) c.1814A>C (p.Glu605Ala) c.2162A>C (p.Glu721Ala) c.2241+29A>C (n.2241+29A>C) c.2205+29A>C (n.2205+29A>C) c.2192A>C (p.Glu731Ala) c.2133+29A>C (n.2133+29A>C) c.1680-6174A>C (n.1680-6174A>C) c.2288A>C (p.Glu763Ala) c.2354A>C (p.Glu785Ala) c.2351A>C (p.Glu784Ala) c.2324A>C (p.Glu775Ala) c.2270A>C (p.Glu757Ala) c.2243A>C (p.Glu748Ala) c.2228A>C (p.Glu743Ala) c.1835A>C (p.Glu612Ala) c.2297A>C (p.Glu766Ala) c.2234A>C (p.Glu745Ala) c.2231A>C (p.Glu744Ala) c.2189A>C (p.Glu730Ala) c.1262A>C (p.Glu421Ala)
20	g.63407018C>A	CA090958	KCNQ2	c.2299G>T (p.Glu767Ter) c.2245G>T (p.Glu749Ter) c.1642G>T (p.Glu548Ter) c.2152G>T (p.Glu718Ter) c.1813G>T (p.Glu605Ter) c.2161G>T (p.Glu721Ter) c.2241+28G>T (n.2241+28G>T) c.2205+28G>T (n.2205+28G>T) c.2191G>T (p.Glu731Ter) c.2133+28G>T (n.2133+28G>T) c.1680-6175G>T (n.1680-6175G>T) c.2287G>T (p.Glu763Ter) c.2353G>T (p.Glu785Ter) c.2350G>T (p.Glu784Ter) c.2323G>T (p.Glu775Ter) c.2269G>T (p.Glu757Ter) c.2242G>T (p.Glu748Ter) c.2227G>T (p.Glu743Ter) c.1834G>T (p.Glu612Ter) c.2296G>T (p.Glu766Ter) c.2233G>T (p.Glu745Ter) c.2230G>T (p.Glu744Ter) c.2188G>T (p.Glu730Ter) c.1261G>T (p.Glu421Ter)	ClinVar dbSNP gnomAD v4
20	g.63407018C=	CA2374774369	KCNQ2	c.2299G= (p.Glu767=) c.2245G= (p.Glu749=) c.1642G= (p.Glu548=) c.2152G= (p.Glu718=) c.1813G= (p.Glu605=) c.2161G= (p.Glu721=) c.2241+28G= (n.2241+28G=) c.2205+28G= (n.2205+28G=) c.2191G= (p.Glu731=) c.2133+28G= (n.2133+28G=) c.1680-6175G= (n.1680-6175G=) c.2287G= (p.Glu763=) c.2353G= (p.Glu785=) c.2350G= (p.Glu784=) c.2323G= (p.Glu775=) c.2269G= (p.Glu757=) c.2242G= (p.Glu748=) c.2227G= (p.Glu743=) c.1834G= (p.Glu612=) c.2296G= (p.Glu766=) c.2233G= (p.Glu745=) c.2230G= (p.Glu744=) c.2188G= (p.Glu730=) c.1261G= (p.Glu421=)
20	g.63407018C>G	CA409638257	KCNQ2	c.2299G>C (p.Glu767Gln) c.2245G>C (p.Glu749Gln) c.1642G>C (p.Glu548Gln) c.2152G>C (p.Glu718Gln) c.1813G>C (p.Glu605Gln) c.2161G>C (p.Glu721Gln) c.2241+28G>C (n.2241+28G>C) c.2205+28G>C (n.2205+28G>C) c.2191G>C (p.Glu731Gln) c.2133+28G>C (n.2133+28G>C) c.1680-6175G>C (n.1680-6175G>C) c.2287G>C (p.Glu763Gln) c.2353G>C (p.Glu785Gln) c.2350G>C (p.Glu784Gln) c.2323G>C (p.Glu775Gln) c.2269G>C (p.Glu757Gln) c.2242G>C (p.Glu748Gln) c.2227G>C (p.Glu743Gln) c.1834G>C (p.Glu612Gln) c.2296G>C (p.Glu766Gln) c.2233G>C (p.Glu745Gln) c.2230G>C (p.Glu744Gln) c.2188G>C (p.Glu730Gln) c.1261G>C (p.Glu421Gln)	dbSNP gnomAD v4
20	g.63407018C>T	CA409638259	KCNQ2	c.2299G>A (p.Glu767Lys) c.2245G>A (p.Glu749Lys) c.1642G>A (p.Glu548Lys) c.2152G>A (p.Glu718Lys) c.1813G>A (p.Glu605Lys) c.2161G>A (p.Glu721Lys) c.2241+28G>A (n.2241+28G>A) c.2205+28G>A (n.2205+28G>A) c.2191G>A (p.Glu731Lys) c.2133+28G>A (n.2133+28G>A) c.1680-6175G>A (n.1680-6175G>A) c.2287G>A (p.Glu763Lys) c.2353G>A (p.Glu785Lys) c.2350G>A (p.Glu784Lys) c.2323G>A (p.Glu775Lys) c.2269G>A (p.Glu757Lys) c.2242G>A (p.Glu748Lys) c.2227G>A (p.Glu743Lys) c.1834G>A (p.Glu612Lys) c.2296G>A (p.Glu766Lys) c.2233G>A (p.Glu745Lys) c.2230G>A (p.Glu744Lys) c.2188G>A (p.Glu730Lys) c.1261G>A (p.Glu421Lys)	ClinVar dbSNP gnomAD v4
20	g.63407019G>A	CA9958118	KCNQ2	c.2298C>T (p.His766=) c.2244C>T (p.His748=) c.1641C>T (p.His547=) c.2151C>T (p.His717=) c.1812C>T (p.His604=) c.2160C>T (p.His720=) c.2241+27C>T (n.2241+27C>T) c.2205+27C>T (n.2205+27C>T) c.2190C>T (p.His730=) c.2133+27C>T (n.2133+27C>T) c.1680-6176C>T (n.1680-6176C>T) c.2286C>T (p.His762=) c.2352C>T (p.His784=) c.2349C>T (p.His783=) c.2322C>T (p.His774=) c.2268C>T (p.His756=) c.2241C>T (p.His747=) c.2226C>T (p.His742=) c.1833C>T (p.His611=) c.2295C>T (p.His765=) c.2232C>T (p.His744=) c.2229C>T (p.His743=) c.2187C>T (p.His729=) c.1260C>T (p.His420=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63407019G>C	CA409638264	KCNQ2	c.2298C>G (p.His766Gln) c.2244C>G (p.His748Gln) c.1641C>G (p.His547Gln) c.2151C>G (p.His717Gln) c.1812C>G (p.His604Gln) c.2160C>G (p.His720Gln) c.2241+27C>G (n.2241+27C>G) c.2205+27C>G (n.2205+27C>G) c.2190C>G (p.His730Gln) c.2133+27C>G (n.2133+27C>G) c.1680-6176C>G (n.1680-6176C>G) c.2286C>G (p.His762Gln) c.2352C>G (p.His784Gln) c.2349C>G (p.His783Gln) c.2322C>G (p.His774Gln) c.2268C>G (p.His756Gln) c.2241C>G (p.His747Gln) c.2226C>G (p.His742Gln) c.1833C>G (p.His611Gln) c.2295C>G (p.His765Gln) c.2232C>G (p.His744Gln) c.2229C>G (p.His743Gln) c.2187C>G (p.His729Gln) c.1260C>G (p.His420Gln)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.63407019G=	CA2374774370	KCNQ2	c.2298C= (p.His766=) c.2244C= (p.His748=) c.1641C= (p.His547=) c.2151C= (p.His717=) c.1812C= (p.His604=) c.2160C= (p.His720=) c.2241+27C= (n.2241+27C=) c.2205+27C= (n.2205+27C=) c.2190C= (p.His730=) c.2133+27C= (n.2133+27C=) c.1680-6176C= (n.1680-6176C=) c.2286C= (p.His762=) c.2352C= (p.His784=) c.2349C= (p.His783=) c.2322C= (p.His774=) c.2268C= (p.His756=) c.2241C= (p.His747=) c.2226C= (p.His742=) c.1833C= (p.His611=) c.2295C= (p.His765=) c.2232C= (p.His744=) c.2229C= (p.His743=) c.2187C= (p.His729=) c.1260C= (p.His420=)
20	g.63407019G>T	CA409638267	KCNQ2	c.2298C>A (p.His766Gln) c.2244C>A (p.His748Gln) c.1641C>A (p.His547Gln) c.2151C>A (p.His717Gln) c.1812C>A (p.His604Gln) c.2160C>A (p.His720Gln) c.2241+27C>A (n.2241+27C>A) c.2205+27C>A (n.2205+27C>A) c.2190C>A (p.His730Gln) c.2133+27C>A (n.2133+27C>A) c.1680-6176C>A (n.1680-6176C>A) c.2286C>A (p.His762Gln) c.2352C>A (p.His784Gln) c.2349C>A (p.His783Gln) c.2322C>A (p.His774Gln) c.2268C>A (p.His756Gln) c.2241C>A (p.His747Gln) c.2226C>A (p.His742Gln) c.1833C>A (p.His611Gln) c.2295C>A (p.His765Gln) c.2232C>A (p.His744Gln) c.2229C>A (p.His743Gln) c.2187C>A (p.His729Gln) c.1260C>A (p.His420Gln)	gnomAD v4
20	g.63407020T>A	CA409638277	KCNQ2	c.2297A>T (p.His766Leu) c.2243A>T (p.His748Leu) c.1640A>T (p.His547Leu) c.2150A>T (p.His717Leu) c.1811A>T (p.His604Leu) c.2159A>T (p.His720Leu) c.2241+26A>T (n.2241+26A>T) c.2205+26A>T (n.2205+26A>T) c.2189A>T (p.His730Leu) c.2133+26A>T (n.2133+26A>T) c.1680-6177A>T (n.1680-6177A>T) c.2285A>T (p.His762Leu) c.2351A>T (p.His784Leu) c.2348A>T (p.His783Leu) c.2321A>T (p.His774Leu) c.2267A>T (p.His756Leu) c.2240A>T (p.His747Leu) c.2225A>T (p.His742Leu) c.1832A>T (p.His611Leu) c.2294A>T (p.His765Leu) c.2231A>T (p.His744Leu) c.2228A>T (p.His743Leu) c.2186A>T (p.His729Leu) c.1259A>T (p.His420Leu)
20	g.63407020T>C	CA409638274	KCNQ2	c.2297A>G (p.His766Arg) c.2243A>G (p.His748Arg) c.1640A>G (p.His547Arg) c.2150A>G (p.His717Arg) c.1811A>G (p.His604Arg) c.2159A>G (p.His720Arg) c.2241+26A>G (n.2241+26A>G) c.2205+26A>G (n.2205+26A>G) c.2189A>G (p.His730Arg) c.2133+26A>G (n.2133+26A>G) c.1680-6177A>G (n.1680-6177A>G) c.2285A>G (p.His762Arg) c.2351A>G (p.His784Arg) c.2348A>G (p.His783Arg) c.2321A>G (p.His774Arg) c.2267A>G (p.His756Arg) c.2240A>G (p.His747Arg) c.2225A>G (p.His742Arg) c.1832A>G (p.His611Arg) c.2294A>G (p.His765Arg) c.2231A>G (p.His744Arg) c.2228A>G (p.His743Arg) c.2186A>G (p.His729Arg) c.1259A>G (p.His420Arg)	dbSNP gnomAD v2 gnomAD v4
20	g.63407020T>G	CA409638271	KCNQ2	c.2297A>C (p.His766Pro) c.2243A>C (p.His748Pro) c.1640A>C (p.His547Pro) c.2150A>C (p.His717Pro) c.1811A>C (p.His604Pro) c.2159A>C (p.His720Pro) c.2241+26A>C (n.2241+26A>C) c.2205+26A>C (n.2205+26A>C) c.2189A>C (p.His730Pro) c.2133+26A>C (n.2133+26A>C) c.1680-6177A>C (n.1680-6177A>C) c.2285A>C (p.His762Pro) c.2351A>C (p.His784Pro) c.2348A>C (p.His783Pro) c.2321A>C (p.His774Pro) c.2267A>C (p.His756Pro) c.2240A>C (p.His747Pro) c.2225A>C (p.His742Pro) c.1832A>C (p.His611Pro) c.2294A>C (p.His765Pro) c.2231A>C (p.His744Pro) c.2228A>C (p.His743Pro) c.2186A>C (p.His729Pro) c.1259A>C (p.His420Pro)	ClinVar dbSNP
20	g.63407020T=	CA2374774371	KCNQ2	c.2297A= (p.His766=) c.2243A= (p.His748=) c.1640A= (p.His547=) c.2150A= (p.His717=) c.1811A= (p.His604=) c.2159A= (p.His720=) c.2241+26A= (n.2241+26A=) c.2205+26A= (n.2205+26A=) c.2189A= (p.His730=) c.2133+26A= (n.2133+26A=) c.1680-6177A= (n.1680-6177A=) c.2285A= (p.His762=) c.2351A= (p.His784=) c.2348A= (p.His783=) c.2321A= (p.His774=) c.2267A= (p.His756=) c.2240A= (p.His747=) c.2225A= (p.His742=) c.1832A= (p.His611=) c.2294A= (p.His765=) c.2231A= (p.His744=) c.2228A= (p.His743=) c.2186A= (p.His729=) c.1259A= (p.His420=)
20	g.63407021G>A	CA409638278	KCNQ2	c.2296C>T (p.His766Tyr) c.2242C>T (p.His748Tyr) c.1639C>T (p.His547Tyr) c.2149C>T (p.His717Tyr) c.1810C>T (p.His604Tyr) c.2158C>T (p.His720Tyr) c.2241+25C>T (n.2241+25C>T) c.2205+25C>T (n.2205+25C>T) c.2188C>T (p.His730Tyr) c.2133+25C>T (n.2133+25C>T) c.1680-6178C>T (n.1680-6178C>T) c.2284C>T (p.His762Tyr) c.2350C>T (p.His784Tyr) c.2347C>T (p.His783Tyr) c.2320C>T (p.His774Tyr) c.2266C>T (p.His756Tyr) c.2239C>T (p.His747Tyr) c.2224C>T (p.His742Tyr) c.1831C>T (p.His611Tyr) c.2293C>T (p.His765Tyr) c.2230C>T (p.His744Tyr) c.2227C>T (p.His743Tyr) c.2185C>T (p.His729Tyr) c.1258C>T (p.His420Tyr)	gnomAD v4
20	g.63407021G>C	CA409638284	KCNQ2	c.2296C>G (p.His766Asp) c.2242C>G (p.His748Asp) c.1639C>G (p.His547Asp) c.2149C>G (p.His717Asp) c.1810C>G (p.His604Asp) c.2158C>G (p.His720Asp) c.2241+25C>G (n.2241+25C>G) c.2205+25C>G (n.2205+25C>G) c.2188C>G (p.His730Asp) c.2133+25C>G (n.2133+25C>G) c.1680-6178C>G (n.1680-6178C>G) c.2284C>G (p.His762Asp) c.2350C>G (p.His784Asp) c.2347C>G (p.His783Asp) c.2320C>G (p.His774Asp) c.2266C>G (p.His756Asp) c.2239C>G (p.His747Asp) c.2224C>G (p.His742Asp) c.1831C>G (p.His611Asp) c.2293C>G (p.His765Asp) c.2230C>G (p.His744Asp) c.2227C>G (p.His743Asp) c.2185C>G (p.His729Asp) c.1258C>G (p.His420Asp)
20	g.63407021G>T	CA409638280	KCNQ2	c.2296C>A (p.His766Asn) c.2242C>A (p.His748Asn) c.1639C>A (p.His547Asn) c.2149C>A (p.His717Asn) c.1810C>A (p.His604Asn) c.2158C>A (p.His720Asn) c.2241+25C>A (n.2241+25C>A) c.2205+25C>A (n.2205+25C>A) c.2188C>A (p.His730Asn) c.2133+25C>A (n.2133+25C>A) c.1680-6178C>A (n.1680-6178C>A) c.2284C>A (p.His762Asn) c.2350C>A (p.His784Asn) c.2347C>A (p.His783Asn) c.2320C>A (p.His774Asn) c.2266C>A (p.His756Asn) c.2239C>A (p.His747Asn) c.2224C>A (p.His742Asn) c.1831C>A (p.His611Asn) c.2293C>A (p.His765Asn) c.2230C>A (p.His744Asn) c.2227C>A (p.His743Asn) c.2185C>A (p.His729Asn) c.1258C>A (p.His420Asn)	gnomAD v4
20	g.63407023del	CA2580098412	KCNQ2	c.2296del (p.His766ThrfsTer?) c.2242del (p.His748ThrfsTer?) c.1639del (p.His547ThrfsTer?) c.2149del (p.His717ThrfsTer?) c.1810del (p.His604ThrfsTer?) c.2158del (p.His720ThrfsTer?) c.2241+25del (n.2241+25del) c.2205+25del (n.2205+25del) c.2188del (p.His730ThrfsTer?) c.2133+25del (n.2133+25del) c.1680-6178del (n.1680-6178del) c.2284del (p.His762ThrfsTer?) c.2350del (p.His784ThrfsTer?) c.2347del (p.His783ThrfsTer?) c.2320del (p.His774ThrfsTer?) c.2266del (p.His756ThrfsTer?) c.2239del (p.His747ThrfsTer?) c.2224del (p.His742ThrfsTer?) c.1831del (p.His611ThrfsTer?) c.2293del (p.His765ThrfsTer?) c.2230del (p.His744ThrfsTer?) c.2227del (p.His743ThrfsTer?) c.2185del (p.His729ThrfsTer?) c.1258del (p.His420ThrfsTer?)	ClinVar
20	g.63407022G>A	CA511339454	KCNQ2	c.2295C>T (p.Ala765=) c.2241C>T (p.Ala747=) c.1638C>T (p.Ala546=) c.2148C>T (p.Ala716=) c.1809C>T (p.Ala603=) c.2157C>T (p.Ala719=) c.2241+24C>T (n.2241+24C>T) c.2205+24C>T (n.2205+24C>T) c.2187C>T (p.Ala729=) c.2133+24C>T (n.2133+24C>T) c.1680-6179C>T (n.1680-6179C>T) c.2283C>T (p.Ala761=) c.2349C>T (p.Ala783=) c.2346C>T (p.Ala782=) c.2319C>T (p.Ala773=) c.2265C>T (p.Ala755=) c.2238C>T (p.Ala746=) c.2223C>T (p.Ala741=) c.1830C>T (p.Ala610=) c.2292C>T (p.Ala764=) c.2229C>T (p.Ala743=) c.2226C>T (p.Ala742=) c.2184C>T (p.Ala728=) c.1257C>T (p.Ala419=)	gnomAD v4
20	g.63407022G>C	CA511339455	KCNQ2	c.2295C>G (p.Ala765=) c.2241C>G (p.Ala747=) c.1638C>G (p.Ala546=) c.2148C>G (p.Ala716=) c.1809C>G (p.Ala603=) c.2157C>G (p.Ala719=) c.2241+24C>G (n.2241+24C>G) c.2205+24C>G (n.2205+24C>G) c.2187C>G (p.Ala729=) c.2133+24C>G (n.2133+24C>G) c.1680-6179C>G (n.1680-6179C>G) c.2283C>G (p.Ala761=) c.2349C>G (p.Ala783=) c.2346C>G (p.Ala782=) c.2319C>G (p.Ala773=) c.2265C>G (p.Ala755=) c.2238C>G (p.Ala746=) c.2223C>G (p.Ala741=) c.1830C>G (p.Ala610=) c.2292C>G (p.Ala764=) c.2229C>G (p.Ala743=) c.2226C>G (p.Ala742=) c.2184C>G (p.Ala728=) c.1257C>G (p.Ala419=)	ClinVar
20	g.63407022G>T	CA511339456	KCNQ2	c.2295C>A (p.Ala765=) c.2241C>A (p.Ala747=) c.1638C>A (p.Ala546=) c.2148C>A (p.Ala716=) c.1809C>A (p.Ala603=) c.2157C>A (p.Ala719=) c.2241+24C>A (n.2241+24C>A) c.2205+24C>A (n.2205+24C>A) c.2187C>A (p.Ala729=) c.2133+24C>A (n.2133+24C>A) c.1680-6179C>A (n.1680-6179C>A) c.2283C>A (p.Ala761=) c.2349C>A (p.Ala783=) c.2346C>A (p.Ala782=) c.2319C>A (p.Ala773=) c.2265C>A (p.Ala755=) c.2238C>A (p.Ala746=) c.2223C>A (p.Ala741=) c.1830C>A (p.Ala610=) c.2292C>A (p.Ala764=) c.2229C>A (p.Ala743=) c.2226C>A (p.Ala742=) c.2184C>A (p.Ala728=) c.1257C>A (p.Ala419=)	gnomAD v4
20	g.63407023G>A	CA409638288	KCNQ2	c.2294C>T (p.Ala765Val) c.2240C>T (p.Ala747Val) c.1637C>T (p.Ala546Val) c.2147C>T (p.Ala716Val) c.1808C>T (p.Ala603Val) c.2156C>T (p.Ala719Val) c.2241+23C>T (n.2241+23C>T) c.2205+23C>T (n.2205+23C>T) c.2186C>T (p.Ala729Val) c.2133+23C>T (n.2133+23C>T) c.1680-6180C>T (n.1680-6180C>T) c.2282C>T (p.Ala761Val) c.2348C>T (p.Ala783Val) c.2345C>T (p.Ala782Val) c.2318C>T (p.Ala773Val) c.2264C>T (p.Ala755Val) c.2237C>T (p.Ala746Val) c.2222C>T (p.Ala741Val) c.1829C>T (p.Ala610Val) c.2291C>T (p.Ala764Val) c.2228C>T (p.Ala743Val) c.2225C>T (p.Ala742Val) c.2183C>T (p.Ala728Val) c.1256C>T (p.Ala419Val)	ClinVar dbSNP gnomAD v2 gnomAD v4
20	g.63407023G>C	CA409638293	KCNQ2	c.2294C>G (p.Ala765Gly) c.2240C>G (p.Ala747Gly) c.1637C>G (p.Ala546Gly) c.2147C>G (p.Ala716Gly) c.1808C>G (p.Ala603Gly) c.2156C>G (p.Ala719Gly) c.2241+23C>G (n.2241+23C>G) c.2205+23C>G (n.2205+23C>G) c.2186C>G (p.Ala729Gly) c.2133+23C>G (n.2133+23C>G) c.1680-6180C>G (n.1680-6180C>G) c.2282C>G (p.Ala761Gly) c.2348C>G (p.Ala783Gly) c.2345C>G (p.Ala782Gly) c.2318C>G (p.Ala773Gly) c.2264C>G (p.Ala755Gly) c.2237C>G (p.Ala746Gly) c.2222C>G (p.Ala741Gly) c.1829C>G (p.Ala610Gly) c.2291C>G (p.Ala764Gly) c.2228C>G (p.Ala743Gly) c.2225C>G (p.Ala742Gly) c.2183C>G (p.Ala728Gly) c.1256C>G (p.Ala419Gly)
20	g.63407023G=	CA2374774372	KCNQ2	c.2294C= (p.Ala765=) c.2240C= (p.Ala747=) c.1637C= (p.Ala546=) c.2147C= (p.Ala716=) c.1808C= (p.Ala603=) c.2156C= (p.Ala719=) c.2241+23C= (n.2241+23C=) c.2205+23C= (n.2205+23C=) c.2186C= (p.Ala729=) c.2133+23C= (n.2133+23C=) c.1680-6180C= (n.1680-6180C=) c.2282C= (p.Ala761=) c.2348C= (p.Ala783=) c.2345C= (p.Ala782=) c.2318C= (p.Ala773=) c.2264C= (p.Ala755=) c.2237C= (p.Ala746=) c.2222C= (p.Ala741=) c.1829C= (p.Ala610=) c.2291C= (p.Ala764=) c.2228C= (p.Ala743=) c.2225C= (p.Ala742=) c.2183C= (p.Ala728=) c.1256C= (p.Ala419=)
20	g.63407023G>T	CA409638290	KCNQ2	c.2294C>A (p.Ala765Asp) c.2240C>A (p.Ala747Asp) c.1637C>A (p.Ala546Asp) c.2147C>A (p.Ala716Asp) c.1808C>A (p.Ala603Asp) c.2156C>A (p.Ala719Asp) c.2241+23C>A (n.2241+23C>A) c.2205+23C>A (n.2205+23C>A) c.2186C>A (p.Ala729Asp) c.2133+23C>A (n.2133+23C>A) c.1680-6180C>A (n.1680-6180C>A) c.2282C>A (p.Ala761Asp) c.2348C>A (p.Ala783Asp) c.2345C>A (p.Ala782Asp) c.2318C>A (p.Ala773Asp) c.2264C>A (p.Ala755Asp) c.2237C>A (p.Ala746Asp) c.2222C>A (p.Ala741Asp) c.1829C>A (p.Ala610Asp) c.2291C>A (p.Ala764Asp) c.2228C>A (p.Ala743Asp) c.2225C>A (p.Ala742Asp) c.2183C>A (p.Ala728Asp) c.1256C>A (p.Ala419Asp)
20	g.63407024C>A	CA409638296	KCNQ2	c.2293G>T (p.Ala765Ser) c.2239G>T (p.Ala747Ser) c.1636G>T (p.Ala546Ser) c.2146G>T (p.Ala716Ser) c.1807G>T (p.Ala603Ser) c.2155G>T (p.Ala719Ser) c.2241+22G>T (n.2241+22G>T) c.2205+22G>T (n.2205+22G>T) c.2185G>T (p.Ala729Ser) c.2133+22G>T (n.2133+22G>T) c.1680-6181G>T (n.1680-6181G>T) c.2281G>T (p.Ala761Ser) c.2347G>T (p.Ala783Ser) c.2344G>T (p.Ala782Ser) c.2317G>T (p.Ala773Ser) c.2263G>T (p.Ala755Ser) c.2236G>T (p.Ala746Ser) c.2221G>T (p.Ala741Ser) c.1828G>T (p.Ala610Ser) c.2290G>T (p.Ala764Ser) c.2227G>T (p.Ala743Ser) c.2224G>T (p.Ala742Ser) c.2182G>T (p.Ala728Ser) c.1255G>T (p.Ala419Ser)	gnomAD v4
20	g.63407024C>G	CA409638298	KCNQ2	c.2293G>C (p.Ala765Pro) c.2239G>C (p.Ala747Pro) c.1636G>C (p.Ala546Pro) c.2146G>C (p.Ala716Pro) c.1807G>C (p.Ala603Pro) c.2155G>C (p.Ala719Pro) c.2241+22G>C (n.2241+22G>C) c.2205+22G>C (n.2205+22G>C) c.2185G>C (p.Ala729Pro) c.2133+22G>C (n.2133+22G>C) c.1680-6181G>C (n.1680-6181G>C) c.2281G>C (p.Ala761Pro) c.2347G>C (p.Ala783Pro) c.2344G>C (p.Ala782Pro) c.2317G>C (p.Ala773Pro) c.2263G>C (p.Ala755Pro) c.2236G>C (p.Ala746Pro) c.2221G>C (p.Ala741Pro) c.1828G>C (p.Ala610Pro) c.2290G>C (p.Ala764Pro) c.2227G>C (p.Ala743Pro) c.2224G>C (p.Ala742Pro) c.2182G>C (p.Ala728Pro) c.1255G>C (p.Ala419Pro)
20	g.63407024C>T	CA409638301	KCNQ2	c.2293G>A (p.Ala765Thr) c.2239G>A (p.Ala747Thr) c.1636G>A (p.Ala546Thr) c.2146G>A (p.Ala716Thr) c.1807G>A (p.Ala603Thr) c.2155G>A (p.Ala719Thr) c.2241+22G>A (n.2241+22G>A) c.2205+22G>A (n.2205+22G>A) c.2185G>A (p.Ala729Thr) c.2133+22G>A (n.2133+22G>A) c.1680-6181G>A (n.1680-6181G>A) c.2281G>A (p.Ala761Thr) c.2347G>A (p.Ala783Thr) c.2344G>A (p.Ala782Thr) c.2317G>A (p.Ala773Thr) c.2263G>A (p.Ala755Thr) c.2236G>A (p.Ala746Thr) c.2221G>A (p.Ala741Thr) c.1828G>A (p.Ala610Thr) c.2290G>A (p.Ala764Thr) c.2227G>A (p.Ala743Thr) c.2224G>A (p.Ala742Thr) c.2182G>A (p.Ala728Thr) c.1255G>A (p.Ala419Thr)	gnomAD v4
20	g.63407025A=	CA2374774373	KCNQ2	c.2292T= (p.Pro764=) c.2238T= (p.Pro746=) c.1635T= (p.Pro545=) c.2145T= (p.Pro715=) c.1806T= (p.Pro602=) c.2154T= (p.Pro718=) c.2241+21T= (n.2241+21T=) c.2205+21T= (n.2205+21T=) c.2184T= (p.Pro728=) c.2133+21T= (n.2133+21T=) c.1680-6182T= (n.1680-6182T=) c.2280T= (p.Pro760=) c.2346T= (p.Pro782=) c.2343T= (p.Pro781=) c.2316T= (p.Pro772=) c.2262T= (p.Pro754=) c.2235T= (p.Pro745=) c.2220T= (p.Pro740=) c.1827T= (p.Pro609=) c.2289T= (p.Pro763=) c.2226T= (p.Pro742=) c.2223T= (p.Pro741=) c.2181T= (p.Pro727=) c.1254T= (p.Pro418=)
20	g.63407025A>C	CA511339457	KCNQ2	c.2292T>G (p.Pro764=) c.2238T>G (p.Pro746=) c.1635T>G (p.Pro545=) c.2145T>G (p.Pro715=) c.1806T>G (p.Pro602=) c.2154T>G (p.Pro718=) c.2241+21T>G (n.2241+21T>G) c.2205+21T>G (n.2205+21T>G) c.2184T>G (p.Pro728=) c.2133+21T>G (n.2133+21T>G) c.1680-6182T>G (n.1680-6182T>G) c.2280T>G (p.Pro760=) c.2346T>G (p.Pro782=) c.2343T>G (p.Pro781=) c.2316T>G (p.Pro772=) c.2262T>G (p.Pro754=) c.2235T>G (p.Pro745=) c.2220T>G (p.Pro740=) c.1827T>G (p.Pro609=) c.2289T>G (p.Pro763=) c.2226T>G (p.Pro742=) c.2223T>G (p.Pro741=) c.2181T>G (p.Pro727=) c.1254T>G (p.Pro418=)
20	g.63407025A>G	CA511339458	KCNQ2	c.2292T>C (p.Pro764=) c.2238T>C (p.Pro746=) c.1635T>C (p.Pro545=) c.2145T>C (p.Pro715=) c.1806T>C (p.Pro602=) c.2154T>C (p.Pro718=) c.2241+21T>C (n.2241+21T>C) c.2205+21T>C (n.2205+21T>C) c.2184T>C (p.Pro728=) c.2133+21T>C (n.2133+21T>C) c.1680-6182T>C (n.1680-6182T>C) c.2280T>C (p.Pro760=) c.2346T>C (p.Pro782=) c.2343T>C (p.Pro781=) c.2316T>C (p.Pro772=) c.2262T>C (p.Pro754=) c.2235T>C (p.Pro745=) c.2220T>C (p.Pro740=) c.1827T>C (p.Pro609=) c.2289T>C (p.Pro763=) c.2226T>C (p.Pro742=) c.2223T>C (p.Pro741=) c.2181T>C (p.Pro727=) c.1254T>C (p.Pro418=)	gnomAD v4
20	g.63407025A>T	CA153292	KCNQ2	c.2292T>A (p.Pro764=) c.2238T>A (p.Pro746=) c.1635T>A (p.Pro545=) c.2145T>A (p.Pro715=) c.1806T>A (p.Pro602=) c.2154T>A (p.Pro718=) c.2241+21T>A (n.2241+21T>A) c.2205+21T>A (n.2205+21T>A) c.2184T>A (p.Pro728=) c.2133+21T>A (n.2133+21T>A) c.1680-6182T>A (n.1680-6182T>A) c.2280T>A (p.Pro760=) c.2346T>A (p.Pro782=) c.2343T>A (p.Pro781=) c.2316T>A (p.Pro772=) c.2262T>A (p.Pro754=) c.2235T>A (p.Pro745=) c.2220T>A (p.Pro740=) c.1827T>A (p.Pro609=) c.2289T>A (p.Pro763=) c.2226T>A (p.Pro742=) c.2223T>A (p.Pro741=) c.2181T>A (p.Pro727=) c.1254T>A (p.Pro418=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63407025_63407028delinsAGGC	CA2374774374	KCNQ2	c.2289_2292delinsGCCT (p.Pro763=) c.2235_2238delinsGCCT (p.Pro745=) c.1632_1635delinsGCCT (p.Pro544=) c.2142_2145delinsGCCT (p.Pro714=) c.1803_1806delinsGCCT (p.Pro601=) c.2151_2154delinsGCCT (p.Pro717=) c.2241+18_2241+21delinsGCCT (n.2241+18_2241+21delinsGCCT) c.2205+18_2205+21delinsGCCT (n.2205+18_2205+21delinsGCCT) c.2181_2184delinsGCCT (p.Pro727=) c.2133+18_2133+21delinsGCCT (n.2133+18_2133+21delinsGCCT) c.1680-6185_1680-6182delinsGCCT (n.1680-6185_1680-6182delinsGCCT) c.2277_2280delinsGCCT (p.Pro759=) c.2343_2346delinsGCCT (p.Pro781=) c.2340_2343delinsGCCT (p.Pro780=) c.2313_2316delinsGCCT (p.Pro771=) c.2259_2262delinsGCCT (p.Pro753=) c.2232_2235delinsGCCT (p.Pro744=) c.2217_2220delinsGCCT (p.Pro739=) c.1824_1827delinsGCCT (p.Pro608=) c.2286_2289delinsGCCT (p.Pro762=) c.2223_2226delinsGCCT (p.Pro741=) c.2220_2223delinsGCCT (p.Pro740=) c.2178_2181delinsGCCT (p.Pro726=) c.1251_1254delinsGCCT (p.Pro417=)
20	g.63407026G>A	CA409638307	KCNQ2	c.2291C>T (p.Pro764Leu) c.2237C>T (p.Pro746Leu) c.1634C>T (p.Pro545Leu) c.2144C>T (p.Pro715Leu) c.1805C>T (p.Pro602Leu) c.2153C>T (p.Pro718Leu) c.2241+20C>T (n.2241+20C>T) c.2205+20C>T (n.2205+20C>T) c.2183C>T (p.Pro728Leu) c.2133+20C>T (n.2133+20C>T) c.1680-6183C>T (n.1680-6183C>T) c.2279C>T (p.Pro760Leu) c.2345C>T (p.Pro782Leu) c.2342C>T (p.Pro781Leu) c.2315C>T (p.Pro772Leu) c.2261C>T (p.Pro754Leu) c.2234C>T (p.Pro745Leu) c.2219C>T (p.Pro740Leu) c.1826C>T (p.Pro609Leu) c.2288C>T (p.Pro763Leu) c.2225C>T (p.Pro742Leu) c.2222C>T (p.Pro741Leu) c.2180C>T (p.Pro727Leu) c.1253C>T (p.Pro418Leu)	gnomAD v4
20	g.63407026G>C	CA409638310	KCNQ2	c.2291C>G (p.Pro764Arg) c.2237C>G (p.Pro746Arg) c.1634C>G (p.Pro545Arg) c.2144C>G (p.Pro715Arg) c.1805C>G (p.Pro602Arg) c.2153C>G (p.Pro718Arg) c.2241+20C>G (n.2241+20C>G) c.2205+20C>G (n.2205+20C>G) c.2183C>G (p.Pro728Arg) c.2133+20C>G (n.2133+20C>G) c.1680-6183C>G (n.1680-6183C>G) c.2279C>G (p.Pro760Arg) c.2345C>G (p.Pro782Arg) c.2342C>G (p.Pro781Arg) c.2315C>G (p.Pro772Arg) c.2261C>G (p.Pro754Arg) c.2234C>G (p.Pro745Arg) c.2219C>G (p.Pro740Arg) c.1826C>G (p.Pro609Arg) c.2288C>G (p.Pro763Arg) c.2225C>G (p.Pro742Arg) c.2222C>G (p.Pro741Arg) c.2180C>G (p.Pro727Arg) c.1253C>G (p.Pro418Arg)	gnomAD v4
20	g.63407026G>T	CA409638313	KCNQ2	c.2291C>A (p.Pro764His) c.2237C>A (p.Pro746His) c.1634C>A (p.Pro545His) c.2144C>A (p.Pro715His) c.1805C>A (p.Pro602His) c.2153C>A (p.Pro718His) c.2241+20C>A (n.2241+20C>A) c.2205+20C>A (n.2205+20C>A) c.2183C>A (p.Pro728His) c.2133+20C>A (n.2133+20C>A) c.1680-6183C>A (n.1680-6183C>A) c.2279C>A (p.Pro760His) c.2345C>A (p.Pro782His) c.2342C>A (p.Pro781His) c.2315C>A (p.Pro772His) c.2261C>A (p.Pro754His) c.2234C>A (p.Pro745His) c.2219C>A (p.Pro740His) c.1826C>A (p.Pro609His) c.2288C>A (p.Pro763His) c.2225C>A (p.Pro742His) c.2222C>A (p.Pro741His) c.2180C>A (p.Pro727His) c.1253C>A (p.Pro418His)	gnomAD v4
20	g.63407034_63407036dup	CA2816991493	KCNQ2	c.2289_2291dup (p.Pro764_Ala765insPro) c.2235_2237dup (p.Pro746_Ala747insPro) c.1632_1634dup (p.Pro545_Ala546insPro) c.2142_2144dup (p.Pro715_Ala716insPro) c.1803_1805dup (p.Pro602_Ala603insPro) c.2151_2153dup (p.Pro718_Ala719insPro) c.2241+18_2241+20dup (n.2241+18_2241+20dup) c.2205+18_2205+20dup (n.2205+18_2205+20dup) c.2181_2183dup (p.Pro728_Ala729insPro) c.2133+18_2133+20dup (n.2133+18_2133+20dup) c.1680-6185_1680-6183dup (n.1680-6185_1680-6183dup) c.2277_2279dup (p.Pro760_Ala761insPro) c.2343_2345dup (p.Pro782_Ala783insPro) c.2340_2342dup (p.Pro781_Ala782insPro) c.2313_2315dup (p.Pro772_Ala773insPro) c.2259_2261dup (p.Pro754_Ala755insPro) c.2232_2234dup (p.Pro745_Ala746insPro) c.2217_2219dup (p.Pro740_Ala741insPro) c.1824_1826dup (p.Pro609_Ala610insPro) c.2286_2288dup (p.Pro763_Ala764insPro) c.2223_2225dup (p.Pro742_Ala743insPro) c.2220_2222dup (p.Pro741_Ala742insPro) c.2178_2180dup (p.Pro727_Ala728insPro) c.1251_1253dup (p.Pro418_Ala419insPro)
20	g.63407034_63407036del	CA636614187	KCNQ2	c.2289_2291del (p.Pro764del) c.2235_2237del (p.Pro746del) c.1632_1634del (p.Pro545del) c.2142_2144del (p.Pro715del) c.1803_1805del (p.Pro602del) c.2151_2153del (p.Pro718del) c.2241+18_2241+20del (n.2241+18_2241+20del) c.2205+18_2205+20del (n.2205+18_2205+20del) c.2181_2183del (p.Pro728del) c.2133+18_2133+20del (n.2133+18_2133+20del) c.1680-6185_1680-6183del (n.1680-6185_1680-6183del) c.2277_2279del (p.Pro760del) c.2343_2345del (p.Pro782del) c.2340_2342del (p.Pro781del) c.2313_2315del (p.Pro772del) c.2259_2261del (p.Pro754del) c.2232_2234del (p.Pro745del) c.2217_2219del (p.Pro740del) c.1824_1826del (p.Pro609del) c.2286_2288del (p.Pro763del) c.2223_2225del (p.Pro742del) c.2220_2222del (p.Pro741del) c.2178_2180del (p.Pro727del) c.1251_1253del (p.Pro418del)	dbSNP gnomAD v2 gnomAD v4
20	g.63407027G>A	CA409638316	KCNQ2	c.2290C>T (p.Pro764Ser) c.2236C>T (p.Pro746Ser) c.1633C>T (p.Pro545Ser) c.2143C>T (p.Pro715Ser) c.1804C>T (p.Pro602Ser) c.2152C>T (p.Pro718Ser) c.2241+19C>T (n.2241+19C>T) c.2205+19C>T (n.2205+19C>T) c.2182C>T (p.Pro728Ser) c.2133+19C>T (n.2133+19C>T) c.1680-6184C>T (n.1680-6184C>T) c.2278C>T (p.Pro760Ser) c.2344C>T (p.Pro782Ser) c.2341C>T (p.Pro781Ser) c.2314C>T (p.Pro772Ser) c.2260C>T (p.Pro754Ser) c.2233C>T (p.Pro745Ser) c.2218C>T (p.Pro740Ser) c.1825C>T (p.Pro609Ser) c.2287C>T (p.Pro763Ser) c.2224C>T (p.Pro742Ser) c.2221C>T (p.Pro741Ser) c.2179C>T (p.Pro727Ser) c.1252C>T (p.Pro418Ser)
20	g.63407027G>C	CA409638317	KCNQ2	c.2290C>G (p.Pro764Ala) c.2236C>G (p.Pro746Ala) c.1633C>G (p.Pro545Ala) c.2143C>G (p.Pro715Ala) c.1804C>G (p.Pro602Ala) c.2152C>G (p.Pro718Ala) c.2241+19C>G (n.2241+19C>G) c.2205+19C>G (n.2205+19C>G) c.2182C>G (p.Pro728Ala) c.2133+19C>G (n.2133+19C>G) c.1680-6184C>G (n.1680-6184C>G) c.2278C>G (p.Pro760Ala) c.2344C>G (p.Pro782Ala) c.2341C>G (p.Pro781Ala) c.2314C>G (p.Pro772Ala) c.2260C>G (p.Pro754Ala) c.2233C>G (p.Pro745Ala) c.2218C>G (p.Pro740Ala) c.1825C>G (p.Pro609Ala) c.2287C>G (p.Pro763Ala) c.2224C>G (p.Pro742Ala) c.2221C>G (p.Pro741Ala) c.2179C>G (p.Pro727Ala) c.1252C>G (p.Pro418Ala)
20	g.63407027G>T	CA409638320	KCNQ2	c.2290C>A (p.Pro764Thr) c.2236C>A (p.Pro746Thr) c.1633C>A (p.Pro545Thr) c.2143C>A (p.Pro715Thr) c.1804C>A (p.Pro602Thr) c.2152C>A (p.Pro718Thr) c.2241+19C>A (n.2241+19C>A) c.2205+19C>A (n.2205+19C>A) c.2182C>A (p.Pro728Thr) c.2133+19C>A (n.2133+19C>A) c.1680-6184C>A (n.1680-6184C>A) c.2278C>A (p.Pro760Thr) c.2344C>A (p.Pro782Thr) c.2341C>A (p.Pro781Thr) c.2314C>A (p.Pro772Thr) c.2260C>A (p.Pro754Thr) c.2233C>A (p.Pro745Thr) c.2218C>A (p.Pro740Thr) c.1825C>A (p.Pro609Thr) c.2287C>A (p.Pro763Thr) c.2224C>A (p.Pro742Thr) c.2221C>A (p.Pro741Thr) c.2179C>A (p.Pro727Thr) c.1252C>A (p.Pro418Thr)	gnomAD v4
20	g.63407028C>A	CA511339459	KCNQ2	c.2289G>T (p.Pro763=) c.2235G>T (p.Pro745=) c.1632G>T (p.Pro544=) c.2142G>T (p.Pro714=) c.1803G>T (p.Pro601=) c.2151G>T (p.Pro717=) c.2241+18G>T (n.2241+18G>T) c.2205+18G>T (n.2205+18G>T) c.2181G>T (p.Pro727=) c.2133+18G>T (n.2133+18G>T) c.1680-6185G>T (n.1680-6185G>T) c.2277G>T (p.Pro759=) c.2343G>T (p.Pro781=) c.2340G>T (p.Pro780=) c.2313G>T (p.Pro771=) c.2259G>T (p.Pro753=) c.2232G>T (p.Pro744=) c.2217G>T (p.Pro739=) c.1824G>T (p.Pro608=) c.2286G>T (p.Pro762=) c.2223G>T (p.Pro741=) c.2220G>T (p.Pro740=) c.2178G>T (p.Pro726=) c.1251G>T (p.Pro417=)	gnomAD v4
20	g.63407028C=	CA2374774375	KCNQ2	c.2289G= (p.Pro763=) c.2235G= (p.Pro745=) c.1632G= (p.Pro544=) c.2142G= (p.Pro714=) c.1803G= (p.Pro601=) c.2151G= (p.Pro717=) c.2241+18G= (n.2241+18G=) c.2205+18G= (n.2205+18G=) c.2181G= (p.Pro727=) c.2133+18G= (n.2133+18G=) c.1680-6185G= (n.1680-6185G=) c.2277G= (p.Pro759=) c.2343G= (p.Pro781=) c.2340G= (p.Pro780=) c.2313G= (p.Pro771=) c.2259G= (p.Pro753=) c.2232G= (p.Pro744=) c.2217G= (p.Pro739=) c.1824G= (p.Pro608=) c.2286G= (p.Pro762=) c.2223G= (p.Pro741=) c.2220G= (p.Pro740=) c.2178G= (p.Pro726=) c.1251G= (p.Pro417=)
20	g.63407028C>G	CA511339460	KCNQ2	c.2289G>C (p.Pro763=) c.2235G>C (p.Pro745=) c.1632G>C (p.Pro544=) c.2142G>C (p.Pro714=) c.1803G>C (p.Pro601=) c.2151G>C (p.Pro717=) c.2241+18G>C (n.2241+18G>C) c.2205+18G>C (n.2205+18G>C) c.2181G>C (p.Pro727=) c.2133+18G>C (n.2133+18G>C) c.1680-6185G>C (n.1680-6185G>C) c.2277G>C (p.Pro759=) c.2343G>C (p.Pro781=) c.2340G>C (p.Pro780=) c.2313G>C (p.Pro771=) c.2259G>C (p.Pro753=) c.2232G>C (p.Pro744=) c.2217G>C (p.Pro739=) c.1824G>C (p.Pro608=) c.2286G>C (p.Pro762=) c.2223G>C (p.Pro741=) c.2220G>C (p.Pro740=) c.2178G>C (p.Pro726=) c.1251G>C (p.Pro417=)
20	g.63407028C>T	CA090960	KCNQ2	c.2289G>A (p.Pro763=) c.2235G>A (p.Pro745=) c.1632G>A (p.Pro544=) c.2142G>A (p.Pro714=) c.1803G>A (p.Pro601=) c.2151G>A (p.Pro717=) c.2241+18G>A (n.2241+18G>A) c.2205+18G>A (n.2205+18G>A) c.2181G>A (p.Pro727=) c.2133+18G>A (n.2133+18G>A) c.1680-6185G>A (n.1680-6185G>A) c.2277G>A (p.Pro759=) c.2343G>A (p.Pro781=) c.2340G>A (p.Pro780=) c.2313G>A (p.Pro771=) c.2259G>A (p.Pro753=) c.2232G>A (p.Pro744=) c.2217G>A (p.Pro739=) c.1824G>A (p.Pro608=) c.2286G>A (p.Pro762=) c.2223G>A (p.Pro741=) c.2220G>A (p.Pro740=) c.2178G>A (p.Pro726=) c.1251G>A (p.Pro417=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63407029G>A	CA16043137	KCNQ2	c.2288C>T (p.Pro763Leu) c.2234C>T (p.Pro745Leu) c.1631C>T (p.Pro544Leu) c.2141C>T (p.Pro714Leu) c.1802C>T (p.Pro601Leu) c.2150C>T (p.Pro717Leu) c.2241+17C>T (n.2241+17C>T) c.2205+17C>T (n.2205+17C>T) c.2180C>T (p.Pro727Leu) c.2133+17C>T (n.2133+17C>T) c.1680-6186C>T (n.1680-6186C>T) c.2276C>T (p.Pro759Leu) c.2342C>T (p.Pro781Leu) c.2339C>T (p.Pro780Leu) c.2312C>T (p.Pro771Leu) c.2258C>T (p.Pro753Leu) c.2231C>T (p.Pro744Leu) c.2216C>T (p.Pro739Leu) c.1823C>T (p.Pro608Leu) c.2285C>T (p.Pro762Leu) c.2222C>T (p.Pro741Leu) c.2219C>T (p.Pro740Leu) c.2177C>T (p.Pro726Leu) c.1250C>T (p.Pro417Leu)	ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20	g.63407029G>C	CA409638330	KCNQ2	c.2288C>G (p.Pro763Arg) c.2234C>G (p.Pro745Arg) c.1631C>G (p.Pro544Arg) c.2141C>G (p.Pro714Arg) c.1802C>G (p.Pro601Arg) c.2150C>G (p.Pro717Arg) c.2241+17C>G (n.2241+17C>G) c.2205+17C>G (n.2205+17C>G) c.2180C>G (p.Pro727Arg) c.2133+17C>G (n.2133+17C>G) c.1680-6186C>G (n.1680-6186C>G) c.2276C>G (p.Pro759Arg) c.2342C>G (p.Pro781Arg) c.2339C>G (p.Pro780Arg) c.2312C>G (p.Pro771Arg) c.2258C>G (p.Pro753Arg) c.2231C>G (p.Pro744Arg) c.2216C>G (p.Pro739Arg) c.1823C>G (p.Pro608Arg) c.2285C>G (p.Pro762Arg) c.2222C>G (p.Pro741Arg) c.2219C>G (p.Pro740Arg) c.2177C>G (p.Pro726Arg) c.1250C>G (p.Pro417Arg)
20	g.63407029G=	CA2374774376	KCNQ2	c.2288C= (p.Pro763=) c.2234C= (p.Pro745=) c.1631C= (p.Pro544=) c.2141C= (p.Pro714=) c.1802C= (p.Pro601=) c.2150C= (p.Pro717=) c.2241+17C= (n.2241+17C=) c.2205+17C= (n.2205+17C=) c.2180C= (p.Pro727=) c.2133+17C= (n.2133+17C=) c.1680-6186C= (n.1680-6186C=) c.2276C= (p.Pro759=) c.2342C= (p.Pro781=) c.2339C= (p.Pro780=) c.2312C= (p.Pro771=) c.2258C= (p.Pro753=) c.2231C= (p.Pro744=) c.2216C= (p.Pro739=) c.1823C= (p.Pro608=) c.2285C= (p.Pro762=) c.2222C= (p.Pro741=) c.2219C= (p.Pro740=) c.2177C= (p.Pro726=) c.1250C= (p.Pro417=)
20	g.63407029G>T	CA409638327	KCNQ2	c.2288C>A (p.Pro763Gln) c.2234C>A (p.Pro745Gln) c.1631C>A (p.Pro544Gln) c.2141C>A (p.Pro714Gln) c.1802C>A (p.Pro601Gln) c.2150C>A (p.Pro717Gln) c.2241+17C>A (n.2241+17C>A) c.2205+17C>A (n.2205+17C>A) c.2180C>A (p.Pro727Gln) c.2133+17C>A (n.2133+17C>A) c.1680-6186C>A (n.1680-6186C>A) c.2276C>A (p.Pro759Gln) c.2342C>A (p.Pro781Gln) c.2339C>A (p.Pro780Gln) c.2312C>A (p.Pro771Gln) c.2258C>A (p.Pro753Gln) c.2231C>A (p.Pro744Gln) c.2216C>A (p.Pro739Gln) c.1823C>A (p.Pro608Gln) c.2285C>A (p.Pro762Gln) c.2222C>A (p.Pro741Gln) c.2219C>A (p.Pro740Gln) c.2177C>A (p.Pro726Gln) c.1250C>A (p.Pro417Gln)	gnomAD v4 COSMIC COSMIC COSMIC
20	g.63407030G>A	CA409638335	KCNQ2	c.2287C>T (p.Pro763Ser) c.2233C>T (p.Pro745Ser) c.1630C>T (p.Pro544Ser) c.2140C>T (p.Pro714Ser) c.1801C>T (p.Pro601Ser) c.2149C>T (p.Pro717Ser) c.2241+16C>T (n.2241+16C>T) c.2205+16C>T (n.2205+16C>T) c.2179C>T (p.Pro727Ser) c.2133+16C>T (n.2133+16C>T) c.1680-6187C>T (n.1680-6187C>T) c.2275C>T (p.Pro759Ser) c.2341C>T (p.Pro781Ser) c.2338C>T (p.Pro780Ser) c.2311C>T (p.Pro771Ser) c.2257C>T (p.Pro753Ser) c.2230C>T (p.Pro744Ser) c.2215C>T (p.Pro739Ser) c.1822C>T (p.Pro608Ser) c.2284C>T (p.Pro762Ser) c.2221C>T (p.Pro741Ser) c.2218C>T (p.Pro740Ser) c.2176C>T (p.Pro726Ser) c.1249C>T (p.Pro417Ser)	dbSNP gnomAD v2 gnomAD v4
20	g.63407030G>C	CA409638338	KCNQ2	c.2287C>G (p.Pro763Ala) c.2233C>G (p.Pro745Ala) c.1630C>G (p.Pro544Ala) c.2140C>G (p.Pro714Ala) c.1801C>G (p.Pro601Ala) c.2149C>G (p.Pro717Ala) c.2241+16C>G (n.2241+16C>G) c.2205+16C>G (n.2205+16C>G) c.2179C>G (p.Pro727Ala) c.2133+16C>G (n.2133+16C>G) c.1680-6187C>G (n.1680-6187C>G) c.2275C>G (p.Pro759Ala) c.2341C>G (p.Pro781Ala) c.2338C>G (p.Pro780Ala) c.2311C>G (p.Pro771Ala) c.2257C>G (p.Pro753Ala) c.2230C>G (p.Pro744Ala) c.2215C>G (p.Pro739Ala) c.1822C>G (p.Pro608Ala) c.2284C>G (p.Pro762Ala) c.2221C>G (p.Pro741Ala) c.2218C>G (p.Pro740Ala) c.2176C>G (p.Pro726Ala) c.1249C>G (p.Pro417Ala)
20	g.63407030G=	CA2374774377	KCNQ2	c.2287C= (p.Pro763=) c.2233C= (p.Pro745=) c.1630C= (p.Pro544=) c.2140C= (p.Pro714=) c.1801C= (p.Pro601=) c.2149C= (p.Pro717=) c.2241+16C= (n.2241+16C=) c.2205+16C= (n.2205+16C=) c.2179C= (p.Pro727=) c.2133+16C= (n.2133+16C=) c.1680-6187C= (n.1680-6187C=) c.2275C= (p.Pro759=) c.2341C= (p.Pro781=) c.2338C= (p.Pro780=) c.2311C= (p.Pro771=) c.2257C= (p.Pro753=) c.2230C= (p.Pro744=) c.2215C= (p.Pro739=) c.1822C= (p.Pro608=) c.2284C= (p.Pro762=) c.2221C= (p.Pro741=) c.2218C= (p.Pro740=) c.2176C= (p.Pro726=) c.1249C= (p.Pro417=)
20	g.63407030G>T	CA409638340	KCNQ2	c.2287C>A (p.Pro763Thr) c.2233C>A (p.Pro745Thr) c.1630C>A (p.Pro544Thr) c.2140C>A (p.Pro714Thr) c.1801C>A (p.Pro601Thr) c.2149C>A (p.Pro717Thr) c.2241+16C>A (n.2241+16C>A) c.2205+16C>A (n.2205+16C>A) c.2179C>A (p.Pro727Thr) c.2133+16C>A (n.2133+16C>A) c.1680-6187C>A (n.1680-6187C>A) c.2275C>A (p.Pro759Thr) c.2341C>A (p.Pro781Thr) c.2338C>A (p.Pro780Thr) c.2311C>A (p.Pro771Thr) c.2257C>A (p.Pro753Thr) c.2230C>A (p.Pro744Thr) c.2215C>A (p.Pro739Thr) c.1822C>A (p.Pro608Thr) c.2284C>A (p.Pro762Thr) c.2221C>A (p.Pro741Thr) c.2218C>A (p.Pro740Thr) c.2176C>A (p.Pro726Thr) c.1249C>A (p.Pro417Thr)	gnomAD v4
20	g.63407031C>A	CA317422098	KCNQ2	c.2286G>T (p.Pro762=) c.2232G>T (p.Pro744=) c.1629G>T (p.Pro543=) c.2139G>T (p.Pro713=) c.1800G>T (p.Pro600=) c.2148G>T (p.Pro716=) c.2241+15G>T (n.2241+15G>T) c.2205+15G>T (n.2205+15G>T) c.2178G>T (p.Pro726=) c.2133+15G>T (n.2133+15G>T) c.1680-6188G>T (n.1680-6188G>T) c.2274G>T (p.Pro758=) c.2340G>T (p.Pro780=) c.2337G>T (p.Pro779=) c.2310G>T (p.Pro770=) c.2256G>T (p.Pro752=) c.2229G>T (p.Pro743=) c.2214G>T (p.Pro738=) c.1821G>T (p.Pro607=) c.2283G>T (p.Pro761=) c.2220G>T (p.Pro740=) c.2217G>T (p.Pro739=) c.2175G>T (p.Pro725=) c.1248G>T (p.Pro416=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.63407031C=	CA2374774378	KCNQ2	c.2286G= (p.Pro762=) c.2232G= (p.Pro744=) c.1629G= (p.Pro543=) c.2139G= (p.Pro713=) c.1800G= (p.Pro600=) c.2148G= (p.Pro716=) c.2241+15G= (n.2241+15G=) c.2205+15G= (n.2205+15G=) c.2178G= (p.Pro726=) c.2133+15G= (n.2133+15G=) c.1680-6188G= (n.1680-6188G=) c.2274G= (p.Pro758=) c.2340G= (p.Pro780=) c.2337G= (p.Pro779=) c.2310G= (p.Pro770=) c.2256G= (p.Pro752=) c.2229G= (p.Pro743=) c.2214G= (p.Pro738=) c.1821G= (p.Pro607=) c.2283G= (p.Pro761=) c.2220G= (p.Pro740=) c.2217G= (p.Pro739=) c.2175G= (p.Pro725=) c.1248G= (p.Pro416=)
20	g.63407031C>G	CA511339461	KCNQ2	c.2286G>C (p.Pro762=) c.2232G>C (p.Pro744=) c.1629G>C (p.Pro543=) c.2139G>C (p.Pro713=) c.1800G>C (p.Pro600=) c.2148G>C (p.Pro716=) c.2241+15G>C (n.2241+15G>C) c.2205+15G>C (n.2205+15G>C) c.2178G>C (p.Pro726=) c.2133+15G>C (n.2133+15G>C) c.1680-6188G>C (n.1680-6188G>C) c.2274G>C (p.Pro758=) c.2340G>C (p.Pro780=) c.2337G>C (p.Pro779=) c.2310G>C (p.Pro770=) c.2256G>C (p.Pro752=) c.2229G>C (p.Pro743=) c.2214G>C (p.Pro738=) c.1821G>C (p.Pro607=) c.2283G>C (p.Pro761=) c.2220G>C (p.Pro740=) c.2217G>C (p.Pro739=) c.2175G>C (p.Pro725=) c.1248G>C (p.Pro416=)
20	g.63407031C>T	CA9958119	KCNQ2	c.2286G>A (p.Pro762=) c.2232G>A (p.Pro744=) c.1629G>A (p.Pro543=) c.2139G>A (p.Pro713=) c.1800G>A (p.Pro600=) c.2148G>A (p.Pro716=) c.2241+15G>A (n.2241+15G>A) c.2205+15G>A (n.2205+15G>A) c.2178G>A (p.Pro726=) c.2133+15G>A (n.2133+15G>A) c.1680-6188G>A (n.1680-6188G>A) c.2274G>A (p.Pro758=) c.2340G>A (p.Pro780=) c.2337G>A (p.Pro779=) c.2310G>A (p.Pro770=) c.2256G>A (p.Pro752=) c.2229G>A (p.Pro743=) c.2214G>A (p.Pro738=) c.1821G>A (p.Pro607=) c.2283G>A (p.Pro761=) c.2220G>A (p.Pro740=) c.2217G>A (p.Pro739=) c.2175G>A (p.Pro725=) c.1248G>A (p.Pro416=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63407032G>A	CA409638349	KCNQ2	c.2285C>T (p.Pro762Leu) c.2231C>T (p.Pro744Leu) c.1628C>T (p.Pro543Leu) c.2138C>T (p.Pro713Leu) c.1799C>T (p.Pro600Leu) c.2147C>T (p.Pro716Leu) c.2241+14C>T (n.2241+14C>T) c.2205+14C>T (n.2205+14C>T) c.2177C>T (p.Pro726Leu) c.2133+14C>T (n.2133+14C>T) c.1680-6189C>T (n.1680-6189C>T) c.2273C>T (p.Pro758Leu) c.2339C>T (p.Pro780Leu) c.2336C>T (p.Pro779Leu) c.2309C>T (p.Pro770Leu) c.2255C>T (p.Pro752Leu) c.2228C>T (p.Pro743Leu) c.2213C>T (p.Pro738Leu) c.1820C>T (p.Pro607Leu) c.2282C>T (p.Pro761Leu) c.2219C>T (p.Pro740Leu) c.2216C>T (p.Pro739Leu) c.2174C>T (p.Pro725Leu) c.1247C>T (p.Pro416Leu)	ClinVar dbSNP gnomAD v2 gnomAD v4
20	g.63407032G>C	CA409638352	KCNQ2	c.2285C>G (p.Pro762Arg) c.2231C>G (p.Pro744Arg) c.1628C>G (p.Pro543Arg) c.2138C>G (p.Pro713Arg) c.1799C>G (p.Pro600Arg) c.2147C>G (p.Pro716Arg) c.2241+14C>G (n.2241+14C>G) c.2205+14C>G (n.2205+14C>G) c.2177C>G (p.Pro726Arg) c.2133+14C>G (n.2133+14C>G) c.1680-6189C>G (n.1680-6189C>G) c.2273C>G (p.Pro758Arg) c.2339C>G (p.Pro780Arg) c.2336C>G (p.Pro779Arg) c.2309C>G (p.Pro770Arg) c.2255C>G (p.Pro752Arg) c.2228C>G (p.Pro743Arg) c.2213C>G (p.Pro738Arg) c.1820C>G (p.Pro607Arg) c.2282C>G (p.Pro761Arg) c.2219C>G (p.Pro740Arg) c.2216C>G (p.Pro739Arg) c.2174C>G (p.Pro725Arg) c.1247C>G (p.Pro416Arg)
20	g.63407032G=	CA2374774379	KCNQ2	c.2285C= (p.Pro762=) c.2231C= (p.Pro744=) c.1628C= (p.Pro543=) c.2138C= (p.Pro713=) c.1799C= (p.Pro600=) c.2147C= (p.Pro716=) c.2241+14C= (n.2241+14C=) c.2205+14C= (n.2205+14C=) c.2177C= (p.Pro726=) c.2133+14C= (n.2133+14C=) c.1680-6189C= (n.1680-6189C=) c.2273C= (p.Pro758=) c.2339C= (p.Pro780=) c.2336C= (p.Pro779=) c.2309C= (p.Pro770=) c.2255C= (p.Pro752=) c.2228C= (p.Pro743=) c.2213C= (p.Pro738=) c.1820C= (p.Pro607=) c.2282C= (p.Pro761=) c.2219C= (p.Pro740=) c.2216C= (p.Pro739=) c.2174C= (p.Pro725=) c.1247C= (p.Pro416=)
20	g.63407032G>T	CA409638355	KCNQ2	c.2285C>A (p.Pro762Gln) c.2231C>A (p.Pro744Gln) c.1628C>A (p.Pro543Gln) c.2138C>A (p.Pro713Gln) c.1799C>A (p.Pro600Gln) c.2147C>A (p.Pro716Gln) c.2241+14C>A (n.2241+14C>A) c.2205+14C>A (n.2205+14C>A) c.2177C>A (p.Pro726Gln) c.2133+14C>A (n.2133+14C>A) c.1680-6189C>A (n.1680-6189C>A) c.2273C>A (p.Pro758Gln) c.2339C>A (p.Pro780Gln) c.2336C>A (p.Pro779Gln) c.2309C>A (p.Pro770Gln) c.2255C>A (p.Pro752Gln) c.2228C>A (p.Pro743Gln) c.2213C>A (p.Pro738Gln) c.1820C>A (p.Pro607Gln) c.2282C>A (p.Pro761Gln) c.2219C>A (p.Pro740Gln) c.2216C>A (p.Pro739Gln) c.2174C>A (p.Pro725Gln) c.1247C>A (p.Pro416Gln)	gnomAD v4
20	g.63407033G>A	CA9958120	KCNQ2	c.2284C>T (p.Pro762Ser) c.2230C>T (p.Pro744Ser) c.1627C>T (p.Pro543Ser) c.2137C>T (p.Pro713Ser) c.1798C>T (p.Pro600Ser) c.2146C>T (p.Pro716Ser) c.2241+13C>T (n.2241+13C>T) c.2205+13C>T (n.2205+13C>T) c.2176C>T (p.Pro726Ser) c.2133+13C>T (n.2133+13C>T) c.1680-6190C>T (n.1680-6190C>T) c.2272C>T (p.Pro758Ser) c.2338C>T (p.Pro780Ser) c.2335C>T (p.Pro779Ser) c.2308C>T (p.Pro770Ser) c.2254C>T (p.Pro752Ser) c.2227C>T (p.Pro743Ser) c.2212C>T (p.Pro738Ser) c.1819C>T (p.Pro607Ser) c.2281C>T (p.Pro761Ser) c.2218C>T (p.Pro740Ser) c.2215C>T (p.Pro739Ser) c.2173C>T (p.Pro725Ser) c.1246C>T (p.Pro416Ser)	dbSNP ExAC gnomAD v4
20	g.63407033G>C	CA409638366	KCNQ2	c.2284C>G (p.Pro762Ala) c.2230C>G (p.Pro744Ala) c.1627C>G (p.Pro543Ala) c.2137C>G (p.Pro713Ala) c.1798C>G (p.Pro600Ala) c.2146C>G (p.Pro716Ala) c.2241+13C>G (n.2241+13C>G) c.2205+13C>G (n.2205+13C>G) c.2176C>G (p.Pro726Ala) c.2133+13C>G (n.2133+13C>G) c.1680-6190C>G (n.1680-6190C>G) c.2272C>G (p.Pro758Ala) c.2338C>G (p.Pro780Ala) c.2335C>G (p.Pro779Ala) c.2308C>G (p.Pro770Ala) c.2254C>G (p.Pro752Ala) c.2227C>G (p.Pro743Ala) c.2212C>G (p.Pro738Ala) c.1819C>G (p.Pro607Ala) c.2281C>G (p.Pro761Ala) c.2218C>G (p.Pro740Ala) c.2215C>G (p.Pro739Ala) c.2173C>G (p.Pro725Ala) c.1246C>G (p.Pro416Ala)
20	g.63407033G=	CA2374774380	KCNQ2	c.2284C= (p.Pro762=) c.2230C= (p.Pro744=) c.1627C= (p.Pro543=) c.2137C= (p.Pro713=) c.1798C= (p.Pro600=) c.2146C= (p.Pro716=) c.2241+13C= (n.2241+13C=) c.2205+13C= (n.2205+13C=) c.2176C= (p.Pro726=) c.2133+13C= (n.2133+13C=) c.1680-6190C= (n.1680-6190C=) c.2272C= (p.Pro758=) c.2338C= (p.Pro780=) c.2335C= (p.Pro779=) c.2308C= (p.Pro770=) c.2254C= (p.Pro752=) c.2227C= (p.Pro743=) c.2212C= (p.Pro738=) c.1819C= (p.Pro607=) c.2281C= (p.Pro761=) c.2218C= (p.Pro740=) c.2215C= (p.Pro739=) c.2173C= (p.Pro725=) c.1246C= (p.Pro416=)
20	g.63407033G>T	CA409638368	KCNQ2	c.2284C>A (p.Pro762Thr) c.2230C>A (p.Pro744Thr) c.1627C>A (p.Pro543Thr) c.2137C>A (p.Pro713Thr) c.1798C>A (p.Pro600Thr) c.2146C>A (p.Pro716Thr) c.2241+13C>A (n.2241+13C>A) c.2205+13C>A (n.2205+13C>A) c.2176C>A (p.Pro726Thr) c.2133+13C>A (n.2133+13C>A) c.1680-6190C>A (n.1680-6190C>A) c.2272C>A (p.Pro758Thr) c.2338C>A (p.Pro780Thr) c.2335C>A (p.Pro779Thr) c.2308C>A (p.Pro770Thr) c.2254C>A (p.Pro752Thr) c.2227C>A (p.Pro743Thr) c.2212C>A (p.Pro738Thr) c.1819C>A (p.Pro607Thr) c.2281C>A (p.Pro761Thr) c.2218C>A (p.Pro740Thr) c.2215C>A (p.Pro739Thr) c.2173C>A (p.Pro725Thr) c.1246C>A (p.Pro416Thr)	gnomAD v4
20	g.63407034C>A	CA511339462	KCNQ2	c.2283G>T (p.Pro761=) c.2229G>T (p.Pro743=) c.1626G>T (p.Pro542=) c.2136G>T (p.Pro712=) c.1797G>T (p.Pro599=) c.2145G>T (p.Pro715=) c.2241+12G>T (n.2241+12G>T) c.2205+12G>T (n.2205+12G>T) c.2175G>T (p.Pro725=) c.2133+12G>T (n.2133+12G>T) c.1680-6191G>T (n.1680-6191G>T) c.2271G>T (p.Pro757=) c.2337G>T (p.Pro779=) c.2334G>T (p.Pro778=) c.2307G>T (p.Pro769=) c.2253G>T (p.Pro751=) c.2226G>T (p.Pro742=) c.2211G>T (p.Pro737=) c.1818G>T (p.Pro606=) c.2280G>T (p.Pro760=) c.2217G>T (p.Pro739=) c.2214G>T (p.Pro738=) c.2172G>T (p.Pro724=) c.1245G>T (p.Pro415=)	ClinVar dbSNP gnomAD v3 gnomAD v4
20	g.63407034C=	CA2374774381	KCNQ2	c.2283G= (p.Pro761=) c.2229G= (p.Pro743=) c.1626G= (p.Pro542=) c.2136G= (p.Pro712=) c.1797G= (p.Pro599=) c.2145G= (p.Pro715=) c.2241+12G= (n.2241+12G=) c.2205+12G= (n.2205+12G=) c.2175G= (p.Pro725=) c.2133+12G= (n.2133+12G=) c.1680-6191G= (n.1680-6191G=) c.2271G= (p.Pro757=) c.2337G= (p.Pro779=) c.2334G= (p.Pro778=) c.2307G= (p.Pro769=) c.2253G= (p.Pro751=) c.2226G= (p.Pro742=) c.2211G= (p.Pro737=) c.1818G= (p.Pro606=) c.2280G= (p.Pro760=) c.2217G= (p.Pro739=) c.2214G= (p.Pro738=) c.2172G= (p.Pro724=) c.1245G= (p.Pro415=)
20	g.63407034C>G	CA511339463	KCNQ2	c.2283G>C (p.Pro761=) c.2229G>C (p.Pro743=) c.1626G>C (p.Pro542=) c.2136G>C (p.Pro712=) c.1797G>C (p.Pro599=) c.2145G>C (p.Pro715=) c.2241+12G>C (n.2241+12G>C) c.2205+12G>C (n.2205+12G>C) c.2175G>C (p.Pro725=) c.2133+12G>C (n.2133+12G>C) c.1680-6191G>C (n.1680-6191G>C) c.2271G>C (p.Pro757=) c.2337G>C (p.Pro779=) c.2334G>C (p.Pro778=) c.2307G>C (p.Pro769=) c.2253G>C (p.Pro751=) c.2226G>C (p.Pro742=) c.2211G>C (p.Pro737=) c.1818G>C (p.Pro606=) c.2280G>C (p.Pro760=) c.2217G>C (p.Pro739=) c.2214G>C (p.Pro738=) c.2172G>C (p.Pro724=) c.1245G>C (p.Pro415=)
20	g.63407034C>T	CA511339464	KCNQ2	c.2283G>A (p.Pro761=) c.2229G>A (p.Pro743=) c.1626G>A (p.Pro542=) c.2136G>A (p.Pro712=) c.1797G>A (p.Pro599=) c.2145G>A (p.Pro715=) c.2241+12G>A (n.2241+12G>A) c.2205+12G>A (n.2205+12G>A) c.2175G>A (p.Pro725=) c.2133+12G>A (n.2133+12G>A) c.1680-6191G>A (n.1680-6191G>A) c.2271G>A (p.Pro757=) c.2337G>A (p.Pro779=) c.2334G>A (p.Pro778=) c.2307G>A (p.Pro769=) c.2253G>A (p.Pro751=) c.2226G>A (p.Pro742=) c.2211G>A (p.Pro737=) c.1818G>A (p.Pro606=) c.2280G>A (p.Pro760=) c.2217G>A (p.Pro739=) c.2214G>A (p.Pro738=) c.2172G>A (p.Pro724=) c.1245G>A (p.Pro415=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.63407035G>A	CA409638383	KCNQ2	c.2282C>T (p.Pro761Leu) c.2228C>T (p.Pro743Leu) c.1625C>T (p.Pro542Leu) c.2135C>T (p.Pro712Leu) c.1796C>T (p.Pro599Leu) c.2144C>T (p.Pro715Leu) c.2241+11C>T (n.2241+11C>T) c.2205+11C>T (n.2205+11C>T) c.2174C>T (p.Pro725Leu) c.2133+11C>T (n.2133+11C>T) c.1680-6192C>T (n.1680-6192C>T) c.2270C>T (p.Pro757Leu) c.2336C>T (p.Pro779Leu) c.2333C>T (p.Pro778Leu) c.2306C>T (p.Pro769Leu) c.2252C>T (p.Pro751Leu) c.2225C>T (p.Pro742Leu) c.2210C>T (p.Pro737Leu) c.1817C>T (p.Pro606Leu) c.2279C>T (p.Pro760Leu) c.2216C>T (p.Pro739Leu) c.2213C>T (p.Pro738Leu) c.2171C>T (p.Pro724Leu) c.1244C>T (p.Pro415Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.63407035G>C	CA409638374	KCNQ2	c.2282C>G (p.Pro761Arg) c.2228C>G (p.Pro743Arg) c.1625C>G (p.Pro542Arg) c.2135C>G (p.Pro712Arg) c.1796C>G (p.Pro599Arg) c.2144C>G (p.Pro715Arg) c.2241+11C>G (n.2241+11C>G) c.2205+11C>G (n.2205+11C>G) c.2174C>G (p.Pro725Arg) c.2133+11C>G (n.2133+11C>G) c.1680-6192C>G (n.1680-6192C>G) c.2270C>G (p.Pro757Arg) c.2336C>G (p.Pro779Arg) c.2333C>G (p.Pro778Arg) c.2306C>G (p.Pro769Arg) c.2252C>G (p.Pro751Arg) c.2225C>G (p.Pro742Arg) c.2210C>G (p.Pro737Arg) c.1817C>G (p.Pro606Arg) c.2279C>G (p.Pro760Arg) c.2216C>G (p.Pro739Arg) c.2213C>G (p.Pro738Arg) c.2171C>G (p.Pro724Arg) c.1244C>G (p.Pro415Arg)
20	g.63407035G=	CA2374774382	KCNQ2	c.2282C= (p.Pro761=) c.2228C= (p.Pro743=) c.1625C= (p.Pro542=) c.2135C= (p.Pro712=) c.1796C= (p.Pro599=) c.2144C= (p.Pro715=) c.2241+11C= (n.2241+11C=) c.2205+11C= (n.2205+11C=) c.2174C= (p.Pro725=) c.2133+11C= (n.2133+11C=) c.1680-6192C= (n.1680-6192C=) c.2270C= (p.Pro757=) c.2336C= (p.Pro779=) c.2333C= (p.Pro778=) c.2306C= (p.Pro769=) c.2252C= (p.Pro751=) c.2225C= (p.Pro742=) c.2210C= (p.Pro737=) c.1817C= (p.Pro606=) c.2279C= (p.Pro760=) c.2216C= (p.Pro739=) c.2213C= (p.Pro738=) c.2171C= (p.Pro724=) c.1244C= (p.Pro415=)
20	g.63407035G>T	CA9958121	KCNQ2	c.2282C>A (p.Pro761Gln) c.2228C>A (p.Pro743Gln) c.1625C>A (p.Pro542Gln) c.2135C>A (p.Pro712Gln) c.1796C>A (p.Pro599Gln) c.2144C>A (p.Pro715Gln) c.2241+11C>A (n.2241+11C>A) c.2205+11C>A (n.2205+11C>A) c.2174C>A (p.Pro725Gln) c.2133+11C>A (n.2133+11C>A) c.1680-6192C>A (n.1680-6192C>A) c.2270C>A (p.Pro757Gln) c.2336C>A (p.Pro779Gln) c.2333C>A (p.Pro778Gln) c.2306C>A (p.Pro769Gln) c.2252C>A (p.Pro751Gln) c.2225C>A (p.Pro742Gln) c.2210C>A (p.Pro737Gln) c.1817C>A (p.Pro606Gln) c.2279C>A (p.Pro760Gln) c.2216C>A (p.Pro739Gln) c.2213C>A (p.Pro738Gln) c.2171C>A (p.Pro724Gln) c.1244C>A (p.Pro415Gln)	dbSNP ExAC gnomAD v4
20	g.63407036G>A	CA409638387	KCNQ2	c.2281C>T (p.Pro761Ser) c.2227C>T (p.Pro743Ser) c.1624C>T (p.Pro542Ser) c.2134C>T (p.Pro712Ser) c.1795C>T (p.Pro599Ser) c.2143C>T (p.Pro715Ser) c.2241+10C>T (n.2241+10C>T) c.2205+10C>T (n.2205+10C>T) c.2173C>T (p.Pro725Ser) c.2133+10C>T (n.2133+10C>T) c.1680-6193C>T (n.1680-6193C>T) c.2269C>T (p.Pro757Ser) c.2335C>T (p.Pro779Ser) c.2332C>T (p.Pro778Ser) c.2305C>T (p.Pro769Ser) c.2251C>T (p.Pro751Ser) c.2224C>T (p.Pro742Ser) c.2209C>T (p.Pro737Ser) c.1816C>T (p.Pro606Ser) c.2278C>T (p.Pro760Ser) c.2215C>T (p.Pro739Ser) c.2212C>T (p.Pro738Ser) c.2170C>T (p.Pro724Ser) c.1243C>T (p.Pro415Ser)	gnomAD v4
20	g.63407036G>C	CA409638389	KCNQ2	c.2281C>G (p.Pro761Ala) c.2227C>G (p.Pro743Ala) c.1624C>G (p.Pro542Ala) c.2134C>G (p.Pro712Ala) c.1795C>G (p.Pro599Ala) c.2143C>G (p.Pro715Ala) c.2241+10C>G (n.2241+10C>G) c.2205+10C>G (n.2205+10C>G) c.2173C>G (p.Pro725Ala) c.2133+10C>G (n.2133+10C>G) c.1680-6193C>G (n.1680-6193C>G) c.2269C>G (p.Pro757Ala) c.2335C>G (p.Pro779Ala) c.2332C>G (p.Pro778Ala) c.2305C>G (p.Pro769Ala) c.2251C>G (p.Pro751Ala) c.2224C>G (p.Pro742Ala) c.2209C>G (p.Pro737Ala) c.1816C>G (p.Pro606Ala) c.2278C>G (p.Pro760Ala) c.2215C>G (p.Pro739Ala) c.2212C>G (p.Pro738Ala) c.2170C>G (p.Pro724Ala) c.1243C>G (p.Pro415Ala)
20	g.63407036G>T	CA409638393	KCNQ2	c.2281C>A (p.Pro761Thr) c.2227C>A (p.Pro743Thr) c.1624C>A (p.Pro542Thr) c.2134C>A (p.Pro712Thr) c.1795C>A (p.Pro599Thr) c.2143C>A (p.Pro715Thr) c.2241+10C>A (n.2241+10C>A) c.2205+10C>A (n.2205+10C>A) c.2173C>A (p.Pro725Thr) c.2133+10C>A (n.2133+10C>A) c.1680-6193C>A (n.1680-6193C>A) c.2269C>A (p.Pro757Thr) c.2335C>A (p.Pro779Thr) c.2332C>A (p.Pro778Thr) c.2305C>A (p.Pro769Thr) c.2251C>A (p.Pro751Thr) c.2224C>A (p.Pro742Thr) c.2209C>A (p.Pro737Thr) c.1816C>A (p.Pro606Thr) c.2278C>A (p.Pro760Thr) c.2215C>A (p.Pro739Thr) c.2212C>A (p.Pro738Thr) c.2170C>A (p.Pro724Thr) c.1243C>A (p.Pro415Thr)	gnomAD v4
20	g.63407037G>A	CA511339466	KCNQ2	c.2280C>T (p.Ile760=) c.2226C>T (p.Ile742=) c.1623C>T (p.Ile541=) c.2133C>T (p.Ile711=) c.1794C>T (p.Ile598=) c.2142C>T (p.Ile714=) c.2241+9C>T (n.2241+9C>T) c.2205+9C>T (n.2205+9C>T) c.2172C>T (p.Ile724=) c.2133+9C>T (n.2133+9C>T) c.1680-6194C>T (n.1680-6194C>T) c.2268C>T (p.Ile756=) c.2334C>T (p.Ile778=) c.2331C>T (p.Ile777=) c.2304C>T (p.Ile768=) c.2250C>T (p.Ile750=) c.2223C>T (p.Ile741=) c.2208C>T (p.Ile736=) c.1815C>T (p.Ile605=) c.2277C>T (p.Ile759=) c.2214C>T (p.Ile738=) c.2211C>T (p.Ile737=) c.2169C>T (p.Ile723=) c.1242C>T (p.Ile414=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.63407037G>C	CA409638395	KCNQ2	c.2280C>G (p.Ile760Met) c.2226C>G (p.Ile742Met) c.1623C>G (p.Ile541Met) c.2133C>G (p.Ile711Met) c.1794C>G (p.Ile598Met) c.2142C>G (p.Ile714Met) c.2241+9C>G (n.2241+9C>G) c.2205+9C>G (n.2205+9C>G) c.2172C>G (p.Ile724Met) c.2133+9C>G (n.2133+9C>G) c.1680-6194C>G (n.1680-6194C>G) c.2268C>G (p.Ile756Met) c.2334C>G (p.Ile778Met) c.2331C>G (p.Ile777Met) c.2304C>G (p.Ile768Met) c.2250C>G (p.Ile750Met) c.2223C>G (p.Ile741Met) c.2208C>G (p.Ile736Met) c.1815C>G (p.Ile605Met) c.2277C>G (p.Ile759Met) c.2214C>G (p.Ile738Met) c.2211C>G (p.Ile737Met) c.2169C>G (p.Ile723Met) c.1242C>G (p.Ile414Met)
20	g.63407037G=	CA2374774383	KCNQ2	c.2280C= (p.Ile760=) c.2226C= (p.Ile742=) c.1623C= (p.Ile541=) c.2133C= (p.Ile711=) c.1794C= (p.Ile598=) c.2142C= (p.Ile714=) c.2241+9C= (n.2241+9C=) c.2205+9C= (n.2205+9C=) c.2172C= (p.Ile724=) c.2133+9C= (n.2133+9C=) c.1680-6194C= (n.1680-6194C=) c.2268C= (p.Ile756=) c.2334C= (p.Ile778=) c.2331C= (p.Ile777=) c.2304C= (p.Ile768=) c.2250C= (p.Ile750=) c.2223C= (p.Ile741=) c.2208C= (p.Ile736=) c.1815C= (p.Ile605=) c.2277C= (p.Ile759=) c.2214C= (p.Ile738=) c.2211C= (p.Ile737=) c.2169C= (p.Ile723=) c.1242C= (p.Ile414=)
20	g.63407037G>T	CA511339465	KCNQ2	c.2280C>A (p.Ile760=) c.2226C>A (p.Ile742=) c.1623C>A (p.Ile541=) c.2133C>A (p.Ile711=) c.1794C>A (p.Ile598=) c.2142C>A (p.Ile714=) c.2241+9C>A (n.2241+9C>A) c.2205+9C>A (n.2205+9C>A) c.2172C>A (p.Ile724=) c.2133+9C>A (n.2133+9C>A) c.1680-6194C>A (n.1680-6194C>A) c.2268C>A (p.Ile756=) c.2334C>A (p.Ile778=) c.2331C>A (p.Ile777=) c.2304C>A (p.Ile768=) c.2250C>A (p.Ile750=) c.2223C>A (p.Ile741=) c.2208C>A (p.Ile736=) c.1815C>A (p.Ile605=) c.2277C>A (p.Ile759=) c.2214C>A (p.Ile738=) c.2211C>A (p.Ile737=) c.2169C>A (p.Ile723=) c.1242C>A (p.Ile414=)	dbSNP gnomAD v4
20	g.63407038A>C	CA409638398	KCNQ2	c.2279T>G (p.Ile760Ser) c.2225T>G (p.Ile742Ser) c.1622T>G (p.Ile541Ser) c.2132T>G (p.Ile711Ser) c.1793T>G (p.Ile598Ser) c.2141T>G (p.Ile714Ser) c.2241+8T>G (n.2241+8T>G) c.2205+8T>G (n.2205+8T>G) c.2171T>G (p.Ile724Ser) c.2133+8T>G (n.2133+8T>G) c.1680-6195T>G (n.1680-6195T>G) c.2267T>G (p.Ile756Ser) c.2333T>G (p.Ile778Ser) c.2330T>G (p.Ile777Ser) c.2303T>G (p.Ile768Ser) c.2249T>G (p.Ile750Ser) c.2222T>G (p.Ile741Ser) c.2207T>G (p.Ile736Ser) c.1814T>G (p.Ile605Ser) c.2276T>G (p.Ile759Ser) c.2213T>G (p.Ile738Ser) c.2210T>G (p.Ile737Ser) c.2168T>G (p.Ile723Ser) c.1241T>G (p.Ile414Ser)
20	g.63407038A>G	CA409638401	KCNQ2	c.2279T>C (p.Ile760Thr) c.2225T>C (p.Ile742Thr) c.1622T>C (p.Ile541Thr) c.2132T>C (p.Ile711Thr) c.1793T>C (p.Ile598Thr) c.2141T>C (p.Ile714Thr) c.2241+8T>C (n.2241+8T>C) c.2205+8T>C (n.2205+8T>C) c.2171T>C (p.Ile724Thr) c.2133+8T>C (n.2133+8T>C) c.1680-6195T>C (n.1680-6195T>C) c.2267T>C (p.Ile756Thr) c.2333T>C (p.Ile778Thr) c.2330T>C (p.Ile777Thr) c.2303T>C (p.Ile768Thr) c.2249T>C (p.Ile750Thr) c.2222T>C (p.Ile741Thr) c.2207T>C (p.Ile736Thr) c.1814T>C (p.Ile605Thr) c.2276T>C (p.Ile759Thr) c.2213T>C (p.Ile738Thr) c.2210T>C (p.Ile737Thr) c.2168T>C (p.Ile723Thr) c.1241T>C (p.Ile414Thr)	gnomAD v4
20	g.63407038A>T	CA409638404	KCNQ2	c.2279T>A (p.Ile760Asn) c.2225T>A (p.Ile742Asn) c.1622T>A (p.Ile541Asn) c.2132T>A (p.Ile711Asn) c.1793T>A (p.Ile598Asn) c.2141T>A (p.Ile714Asn) c.2241+8T>A (n.2241+8T>A) c.2205+8T>A (n.2205+8T>A) c.2171T>A (p.Ile724Asn) c.2133+8T>A (n.2133+8T>A) c.1680-6195T>A (n.1680-6195T>A) c.2267T>A (p.Ile756Asn) c.2333T>A (p.Ile778Asn) c.2330T>A (p.Ile777Asn) c.2303T>A (p.Ile768Asn) c.2249T>A (p.Ile750Asn) c.2222T>A (p.Ile741Asn) c.2207T>A (p.Ile736Asn) c.1814T>A (p.Ile605Asn) c.2276T>A (p.Ile759Asn) c.2213T>A (p.Ile738Asn) c.2210T>A (p.Ile737Asn) c.2168T>A (p.Ile723Asn) c.1241T>A (p.Ile414Asn)	gnomAD v4
20	g.63407039T>A	CA409638407	KCNQ2	c.2278A>T (p.Ile760Phe) c.2224A>T (p.Ile742Phe) c.1621A>T (p.Ile541Phe) c.2131A>T (p.Ile711Phe) c.1792A>T (p.Ile598Phe) c.2140A>T (p.Ile714Phe) c.2241+7A>T (n.2241+7A>T) c.2205+7A>T (n.2205+7A>T) c.2170A>T (p.Ile724Phe) c.2133+7A>T (n.2133+7A>T) c.1680-6196A>T (n.1680-6196A>T) c.2266A>T (p.Ile756Phe) c.2332A>T (p.Ile778Phe) c.2329A>T (p.Ile777Phe) c.2302A>T (p.Ile768Phe) c.2248A>T (p.Ile750Phe) c.2221A>T (p.Ile741Phe) c.2206A>T (p.Ile736Phe) c.1813A>T (p.Ile605Phe) c.2275A>T (p.Ile759Phe) c.2212A>T (p.Ile738Phe) c.2209A>T (p.Ile737Phe) c.2167A>T (p.Ile723Phe) c.1240A>T (p.Ile414Phe)
20	g.63407039T>C	CA409638410	KCNQ2	c.2278A>G (p.Ile760Val) c.2224A>G (p.Ile742Val) c.1621A>G (p.Ile541Val) c.2131A>G (p.Ile711Val) c.1792A>G (p.Ile598Val) c.2140A>G (p.Ile714Val) c.2241+7A>G (n.2241+7A>G) c.2205+7A>G (n.2205+7A>G) c.2170A>G (p.Ile724Val) c.2133+7A>G (n.2133+7A>G) c.1680-6196A>G (n.1680-6196A>G) c.2266A>G (p.Ile756Val) c.2332A>G (p.Ile778Val) c.2329A>G (p.Ile777Val) c.2302A>G (p.Ile768Val) c.2248A>G (p.Ile750Val) c.2221A>G (p.Ile741Val) c.2206A>G (p.Ile736Val) c.1813A>G (p.Ile605Val) c.2275A>G (p.Ile759Val) c.2212A>G (p.Ile738Val) c.2209A>G (p.Ile737Val) c.2167A>G (p.Ile723Val) c.1240A>G (p.Ile414Val)
20	g.63407039T>G	CA409638413	KCNQ2	c.2278A>C (p.Ile760Leu) c.2224A>C (p.Ile742Leu) c.1621A>C (p.Ile541Leu) c.2131A>C (p.Ile711Leu) c.1792A>C (p.Ile598Leu) c.2140A>C (p.Ile714Leu) c.2241+7A>C (n.2241+7A>C) c.2205+7A>C (n.2205+7A>C) c.2170A>C (p.Ile724Leu) c.2133+7A>C (n.2133+7A>C) c.1680-6196A>C (n.1680-6196A>C) c.2266A>C (p.Ile756Leu) c.2332A>C (p.Ile778Leu) c.2329A>C (p.Ile777Leu) c.2302A>C (p.Ile768Leu) c.2248A>C (p.Ile750Leu) c.2221A>C (p.Ile741Leu) c.2206A>C (p.Ile736Leu) c.1813A>C (p.Ile605Leu) c.2275A>C (p.Ile759Leu) c.2212A>C (p.Ile738Leu) c.2209A>C (p.Ile737Leu) c.2167A>C (p.Ile723Leu) c.1240A>C (p.Ile414Leu)
20	g.63407040G>A	CA511339467	KCNQ2	c.2277C>T (p.Arg759=) c.2223C>T (p.Arg741=) c.1620C>T (p.Arg540=) c.2130C>T (p.Arg710=) c.1791C>T (p.Arg597=) c.2139C>T (p.Arg713=) c.2241+6C>T (n.2241+6C>T) c.2205+6C>T (n.2205+6C>T) c.2169C>T (p.Arg723=) c.2133+6C>T (n.2133+6C>T) c.1680-6197C>T (n.1680-6197C>T) c.2265C>T (p.Arg755=) c.2331C>T (p.Arg777=) c.2328C>T (p.Arg776=) c.2301C>T (p.Arg767=) c.2247C>T (p.Arg749=) c.2220C>T (p.Arg740=) c.2205C>T (p.Arg735=) c.1812C>T (p.Arg604=) c.2274C>T (p.Arg758=) c.2211C>T (p.Arg737=) c.2208C>T (p.Arg736=) c.2166C>T (p.Arg722=) c.1239C>T (p.Arg413=)	dbSNP gnomAD v2
20	g.63407040G>C	CA511339468	KCNQ2	c.2277C>G (p.Arg759=) c.2223C>G (p.Arg741=) c.1620C>G (p.Arg540=) c.2130C>G (p.Arg710=) c.1791C>G (p.Arg597=) c.2139C>G (p.Arg713=) c.2241+6C>G (n.2241+6C>G) c.2205+6C>G (n.2205+6C>G) c.2169C>G (p.Arg723=) c.2133+6C>G (n.2133+6C>G) c.1680-6197C>G (n.1680-6197C>G) c.2265C>G (p.Arg755=) c.2331C>G (p.Arg777=) c.2328C>G (p.Arg776=) c.2301C>G (p.Arg767=) c.2247C>G (p.Arg749=) c.2220C>G (p.Arg740=) c.2205C>G (p.Arg735=) c.1812C>G (p.Arg604=) c.2274C>G (p.Arg758=) c.2211C>G (p.Arg737=) c.2208C>G (p.Arg736=) c.2166C>G (p.Arg722=) c.1239C>G (p.Arg413=)
20	g.63407040G=	CA2374774384	KCNQ2	c.2277C= (p.Arg759=) c.2223C= (p.Arg741=) c.1620C= (p.Arg540=) c.2130C= (p.Arg710=) c.1791C= (p.Arg597=) c.2139C= (p.Arg713=) c.2241+6C= (n.2241+6C=) c.2205+6C= (n.2205+6C=) c.2169C= (p.Arg723=) c.2133+6C= (n.2133+6C=) c.1680-6197C= (n.1680-6197C=) c.2265C= (p.Arg755=) c.2331C= (p.Arg777=) c.2328C= (p.Arg776=) c.2301C= (p.Arg767=) c.2247C= (p.Arg749=) c.2220C= (p.Arg740=) c.2205C= (p.Arg735=) c.1812C= (p.Arg604=) c.2274C= (p.Arg758=) c.2211C= (p.Arg737=) c.2208C= (p.Arg736=) c.2166C= (p.Arg722=) c.1239C= (p.Arg413=)
20	g.63407040G>T	CA511339469	KCNQ2	c.2277C>A (p.Arg759=) c.2223C>A (p.Arg741=) c.1620C>A (p.Arg540=) c.2130C>A (p.Arg710=) c.1791C>A (p.Arg597=) c.2139C>A (p.Arg713=) c.2241+6C>A (n.2241+6C>A) c.2205+6C>A (n.2205+6C>A) c.2169C>A (p.Arg723=) c.2133+6C>A (n.2133+6C>A) c.1680-6197C>A (n.1680-6197C>A) c.2265C>A (p.Arg755=) c.2331C>A (p.Arg777=) c.2328C>A (p.Arg776=) c.2301C>A (p.Arg767=) c.2247C>A (p.Arg749=) c.2220C>A (p.Arg740=) c.2205C>A (p.Arg735=) c.1812C>A (p.Arg604=) c.2274C>A (p.Arg758=) c.2211C>A (p.Arg737=) c.2208C>A (p.Arg736=) c.2166C>A (p.Arg722=) c.1239C>A (p.Arg413=)	gnomAD v4
20	g.63407041C>A	CA409638416	KCNQ2	c.2276G>T (p.Arg759Leu) c.2222G>T (p.Arg741Leu) c.1619G>T (p.Arg540Leu) c.2129G>T (p.Arg710Leu) c.1790G>T (p.Arg597Leu) c.2138G>T (p.Arg713Leu) c.2241+5G>T (n.2241+5G>T) c.2205+5G>T (n.2205+5G>T) c.2168G>T (p.Arg723Leu) c.2133+5G>T (n.2133+5G>T) c.1680-6198G>T (n.1680-6198G>T) c.2264G>T (p.Arg755Leu) c.2330G>T (p.Arg777Leu) c.2327G>T (p.Arg776Leu) c.2300G>T (p.Arg767Leu) c.2246G>T (p.Arg749Leu) c.2219G>T (p.Arg740Leu) c.2204G>T (p.Arg735Leu) c.1811G>T (p.Arg604Leu) c.2273G>T (p.Arg758Leu) c.2210G>T (p.Arg737Leu) c.2207G>T (p.Arg736Leu) c.2165G>T (p.Arg722Leu) c.1238G>T (p.Arg413Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.63407041C=	CA2374774385	KCNQ2	c.2276G= (p.Arg759=) c.2222G= (p.Arg741=) c.1619G= (p.Arg540=) c.2129G= (p.Arg710=) c.1790G= (p.Arg597=) c.2138G= (p.Arg713=) c.2241+5G= (n.2241+5G=) c.2205+5G= (n.2205+5G=) c.2168G= (p.Arg723=) c.2133+5G= (n.2133+5G=) c.1680-6198G= (n.1680-6198G=) c.2264G= (p.Arg755=) c.2330G= (p.Arg777=) c.2327G= (p.Arg776=) c.2300G= (p.Arg767=) c.2246G= (p.Arg749=) c.2219G= (p.Arg740=) c.2204G= (p.Arg735=) c.1811G= (p.Arg604=) c.2273G= (p.Arg758=) c.2210G= (p.Arg737=) c.2207G= (p.Arg736=) c.2165G= (p.Arg722=) c.1238G= (p.Arg413=)
20	g.63407041C>G	CA409638418	KCNQ2	c.2276G>C (p.Arg759Pro) c.2222G>C (p.Arg741Pro) c.1619G>C (p.Arg540Pro) c.2129G>C (p.Arg710Pro) c.1790G>C (p.Arg597Pro) c.2138G>C (p.Arg713Pro) c.2241+5G>C (n.2241+5G>C) c.2205+5G>C (n.2205+5G>C) c.2168G>C (p.Arg723Pro) c.2133+5G>C (n.2133+5G>C) c.1680-6198G>C (n.1680-6198G>C) c.2264G>C (p.Arg755Pro) c.2330G>C (p.Arg777Pro) c.2327G>C (p.Arg776Pro) c.2300G>C (p.Arg767Pro) c.2246G>C (p.Arg749Pro) c.2219G>C (p.Arg740Pro) c.2204G>C (p.Arg735Pro) c.1811G>C (p.Arg604Pro) c.2273G>C (p.Arg758Pro) c.2210G>C (p.Arg737Pro) c.2207G>C (p.Arg736Pro) c.2165G>C (p.Arg722Pro) c.1238G>C (p.Arg413Pro)	gnomAD v4
20	g.63407041C>T	CA409638421	KCNQ2	c.2276G>A (p.Arg759His) c.2222G>A (p.Arg741His) c.1619G>A (p.Arg540His) c.2129G>A (p.Arg710His) c.1790G>A (p.Arg597His) c.2138G>A (p.Arg713His) c.2241+5G>A (n.2241+5G>A) c.2205+5G>A (n.2205+5G>A) c.2168G>A (p.Arg723His) c.2133+5G>A (n.2133+5G>A) c.1680-6198G>A (n.1680-6198G>A) c.2264G>A (p.Arg755His) c.2330G>A (p.Arg777His) c.2327G>A (p.Arg776His) c.2300G>A (p.Arg767His) c.2246G>A (p.Arg749His) c.2219G>A (p.Arg740His) c.2204G>A (p.Arg735His) c.1811G>A (p.Arg604His) c.2273G>A (p.Arg758His) c.2210G>A (p.Arg737His) c.2207G>A (p.Arg736His) c.2165G>A (p.Arg722His) c.1238G>A (p.Arg413His)	gnomAD v4 COSMIC
20	g.63407042G>A	CA409638424	KCNQ2	c.2275C>T (p.Arg759Cys) c.2221C>T (p.Arg741Cys) c.1618C>T (p.Arg540Cys) c.2128C>T (p.Arg710Cys) c.1789C>T (p.Arg597Cys) c.2137C>T (p.Arg713Cys) c.2241+4C>T (n.2241+4C>T) c.2205+4C>T (n.2205+4C>T) c.2167C>T (p.Arg723Cys) c.2133+4C>T (n.2133+4C>T) c.1680-6199C>T (n.1680-6199C>T) c.2263C>T (p.Arg755Cys) c.2329C>T (p.Arg777Cys) c.2326C>T (p.Arg776Cys) c.2299C>T (p.Arg767Cys) c.2245C>T (p.Arg749Cys) c.2218C>T (p.Arg740Cys) c.2203C>T (p.Arg735Cys) c.1810C>T (p.Arg604Cys) c.2272C>T (p.Arg758Cys) c.2209C>T (p.Arg737Cys) c.2206C>T (p.Arg736Cys) c.2164C>T (p.Arg722Cys) c.1237C>T (p.Arg413Cys)	ClinVar dbSNP gnomAD v4
20	g.63407042G>C	CA409638428	KCNQ2	c.2275C>G (p.Arg759Gly) c.2221C>G (p.Arg741Gly) c.1618C>G (p.Arg540Gly) c.2128C>G (p.Arg710Gly) c.1789C>G (p.Arg597Gly) c.2137C>G (p.Arg713Gly) c.2241+4C>G (n.2241+4C>G) c.2205+4C>G (n.2205+4C>G) c.2167C>G (p.Arg723Gly) c.2133+4C>G (n.2133+4C>G) c.1680-6199C>G (n.1680-6199C>G) c.2263C>G (p.Arg755Gly) c.2329C>G (p.Arg777Gly) c.2326C>G (p.Arg776Gly) c.2299C>G (p.Arg767Gly) c.2245C>G (p.Arg749Gly) c.2218C>G (p.Arg740Gly) c.2203C>G (p.Arg735Gly) c.1810C>G (p.Arg604Gly) c.2272C>G (p.Arg758Gly) c.2209C>G (p.Arg737Gly) c.2206C>G (p.Arg736Gly) c.2164C>G (p.Arg722Gly) c.1237C>G (p.Arg413Gly)	gnomAD v4
20	g.63407042G=	CA2374774386	KCNQ2	c.2275C= (p.Arg759=) c.2221C= (p.Arg741=) c.1618C= (p.Arg540=) c.2128C= (p.Arg710=) c.1789C= (p.Arg597=) c.2137C= (p.Arg713=) c.2241+4C= (n.2241+4C=) c.2205+4C= (n.2205+4C=) c.2167C= (p.Arg723=) c.2133+4C= (n.2133+4C=) c.1680-6199C= (n.1680-6199C=) c.2263C= (p.Arg755=) c.2329C= (p.Arg777=) c.2326C= (p.Arg776=) c.2299C= (p.Arg767=) c.2245C= (p.Arg749=) c.2218C= (p.Arg740=) c.2203C= (p.Arg735=) c.1810C= (p.Arg604=) c.2272C= (p.Arg758=) c.2209C= (p.Arg737=) c.2206C= (p.Arg736=) c.2164C= (p.Arg722=) c.1237C= (p.Arg413=)
20	g.63407042G>T	CA409638426	KCNQ2	c.2275C>A (p.Arg759Ser) c.2221C>A (p.Arg741Ser) c.1618C>A (p.Arg540Ser) c.2128C>A (p.Arg710Ser) c.1789C>A (p.Arg597Ser) c.2137C>A (p.Arg713Ser) c.2241+4C>A (n.2241+4C>A) c.2205+4C>A (n.2205+4C>A) c.2167C>A (p.Arg723Ser) c.2133+4C>A (n.2133+4C>A) c.1680-6199C>A (n.1680-6199C>A) c.2263C>A (p.Arg755Ser) c.2329C>A (p.Arg777Ser) c.2326C>A (p.Arg776Ser) c.2299C>A (p.Arg767Ser) c.2245C>A (p.Arg749Ser) c.2218C>A (p.Arg740Ser) c.2203C>A (p.Arg735Ser) c.1810C>A (p.Arg604Ser) c.2272C>A (p.Arg758Ser) c.2209C>A (p.Arg737Ser) c.2206C>A (p.Arg736Ser) c.2164C>A (p.Arg722Ser) c.1237C>A (p.Arg413Ser)	gnomAD v4
20	g.63407043C>A	CA511339471	KCNQ2	c.2274G>T (p.Val758=) c.2220G>T (p.Val740=) c.1617G>T (p.Val539=) c.2127G>T (p.Val709=) c.1788G>T (p.Val596=) c.2136G>T (p.Val712=) c.2241+3G>T (n.2241+3G>T) c.2205+3G>T (n.2205+3G>T) c.2166G>T (p.Val722=) c.2133+3G>T (n.2133+3G>T) c.1680-6200G>T (n.1680-6200G>T) c.2262G>T (p.Val754=) c.2328G>T (p.Val776=) c.2325G>T (p.Val775=) c.2298G>T (p.Val766=) c.2244G>T (p.Val748=) c.2217G>T (p.Val739=) c.2202G>T (p.Val734=) c.1809G>T (p.Val603=) c.2271G>T (p.Val757=) c.2208G>T (p.Val736=) c.2205G>T (p.Val735=) c.2163G>T (p.Val721=) c.1236G>T (p.Val412=)	gnomAD v4
20	g.63407043C>G	CA511339472	KCNQ2	c.2274G>C (p.Val758=) c.2220G>C (p.Val740=) c.1617G>C (p.Val539=) c.2127G>C (p.Val709=) c.1788G>C (p.Val596=) c.2136G>C (p.Val712=) c.2241+3G>C (n.2241+3G>C) c.2205+3G>C (n.2205+3G>C) c.2166G>C (p.Val722=) c.2133+3G>C (n.2133+3G>C) c.1680-6200G>C (n.1680-6200G>C) c.2262G>C (p.Val754=) c.2328G>C (p.Val776=) c.2325G>C (p.Val775=) c.2298G>C (p.Val766=) c.2244G>C (p.Val748=) c.2217G>C (p.Val739=) c.2202G>C (p.Val734=) c.1809G>C (p.Val603=) c.2271G>C (p.Val757=) c.2208G>C (p.Val736=) c.2205G>C (p.Val735=) c.2163G>C (p.Val721=) c.1236G>C (p.Val412=)
20	g.63407043C>T	CA511339470	KCNQ2	c.2274G>A (p.Val758=) c.2220G>A (p.Val740=) c.1617G>A (p.Val539=) c.2127G>A (p.Val709=) c.1788G>A (p.Val596=) c.2136G>A (p.Val712=) c.2241+3G>A (n.2241+3G>A) c.2205+3G>A (n.2205+3G>A) c.2166G>A (p.Val722=) c.2133+3G>A (n.2133+3G>A) c.1680-6200G>A (n.1680-6200G>A) c.2262G>A (p.Val754=) c.2328G>A (p.Val776=) c.2325G>A (p.Val775=) c.2298G>A (p.Val766=) c.2244G>A (p.Val748=) c.2217G>A (p.Val739=) c.2202G>A (p.Val734=) c.1809G>A (p.Val603=) c.2271G>A (p.Val757=) c.2208G>A (p.Val736=) c.2205G>A (p.Val735=) c.2163G>A (p.Val721=) c.1236G>A (p.Val412=)	gnomAD v4
20	g.63407044A=	CA2374774387	KCNQ2	c.2273T= (p.Val758=) c.2219T= (p.Val740=) c.1616T= (p.Val539=) c.2126T= (p.Val709=) c.1787T= (p.Val596=) c.2135T= (p.Val712=) c.2241+2T= (n.2241+2T=) c.2205+2T= (n.2205+2T=) c.2165T= (p.Val722=) c.2133+2T= (n.2133+2T=) c.1680-6201T= (n.1680-6201T=) c.2261T= (p.Val754=) c.2327T= (p.Val776=) c.2324T= (p.Val775=) c.2297T= (p.Val766=) c.2243T= (p.Val748=) c.2216T= (p.Val739=) c.2201T= (p.Val734=) c.1808T= (p.Val603=) c.2270T= (p.Val757=) c.2207T= (p.Val736=) c.2204T= (p.Val735=) c.2162T= (p.Val721=) c.1235T= (p.Val412=)
20	g.63407044A>C	CA409638434	KCNQ2	c.2273T>G (p.Val758Gly) c.2219T>G (p.Val740Gly) c.1616T>G (p.Val539Gly) c.2126T>G (p.Val709Gly) c.1787T>G (p.Val596Gly) c.2135T>G (p.Val712Gly) c.2241+2T>G (n.2241+2T>G) c.2205+2T>G (n.2205+2T>G) c.2165T>G (p.Val722Gly) c.2133+2T>G (n.2133+2T>G) c.1680-6201T>G (n.1680-6201T>G) c.2261T>G (p.Val754Gly) c.2327T>G (p.Val776Gly) c.2324T>G (p.Val775Gly) c.2297T>G (p.Val766Gly) c.2243T>G (p.Val748Gly) c.2216T>G (p.Val739Gly) c.2201T>G (p.Val734Gly) c.1808T>G (p.Val603Gly) c.2270T>G (p.Val757Gly) c.2207T>G (p.Val736Gly) c.2204T>G (p.Val735Gly) c.2162T>G (p.Val721Gly) c.1235T>G (p.Val412Gly)
20	g.63407044A>G	CA16620961	KCNQ2	c.2273T>C (p.Val758Ala) c.2219T>C (p.Val740Ala) c.1616T>C (p.Val539Ala) c.2126T>C (p.Val709Ala) c.1787T>C (p.Val596Ala) c.2135T>C (p.Val712Ala) c.2241+2T>C (n.2241+2T>C) c.2205+2T>C (n.2205+2T>C) c.2165T>C (p.Val722Ala) c.2133+2T>C (n.2133+2T>C) c.1680-6201T>C (n.1680-6201T>C) c.2261T>C (p.Val754Ala) c.2327T>C (p.Val776Ala) c.2324T>C (p.Val775Ala) c.2297T>C (p.Val766Ala) c.2243T>C (p.Val748Ala) c.2216T>C (p.Val739Ala) c.2201T>C (p.Val734Ala) c.1808T>C (p.Val603Ala) c.2270T>C (p.Val757Ala) c.2207T>C (p.Val736Ala) c.2204T>C (p.Val735Ala) c.2162T>C (p.Val721Ala) c.1235T>C (p.Val412Ala)	ClinVar dbSNP
20	g.63407044A>T	CA409638439	KCNQ2	c.2273T>A (p.Val758Glu) c.2219T>A (p.Val740Glu) c.1616T>A (p.Val539Glu) c.2126T>A (p.Val709Glu) c.1787T>A (p.Val596Glu) c.2135T>A (p.Val712Glu) c.2241+2T>A (n.2241+2T>A) c.2205+2T>A (n.2205+2T>A) c.2165T>A (p.Val722Glu) c.2133+2T>A (n.2133+2T>A) c.1680-6201T>A (n.1680-6201T>A) c.2261T>A (p.Val754Glu) c.2327T>A (p.Val776Glu) c.2324T>A (p.Val775Glu) c.2297T>A (p.Val766Glu) c.2243T>A (p.Val748Glu) c.2216T>A (p.Val739Glu) c.2201T>A (p.Val734Glu) c.1808T>A (p.Val603Glu) c.2270T>A (p.Val757Glu) c.2207T>A (p.Val736Glu) c.2204T>A (p.Val735Glu) c.2162T>A (p.Val721Glu) c.1235T>A (p.Val412Glu)	gnomAD v4
20	g.63407045C>A	CA409638443	KCNQ2	c.2272G>T (p.Val758Leu) c.2218G>T (p.Val740Leu) c.1615G>T (p.Val539Leu) c.2125G>T (p.Val709Leu) c.1786G>T (p.Val596Leu) c.2134G>T (p.Val712Leu) c.2241+1G>T (n.2241+1G>T) c.2205+1G>T (n.2205+1G>T) c.2164G>T (p.Val722Leu) c.2133+1G>T (n.2133+1G>T) c.1680-6202G>T (n.1680-6202G>T) c.2260G>T (p.Val754Leu) c.2326G>T (p.Val776Leu) c.2323G>T (p.Val775Leu) c.2296G>T (p.Val766Leu) c.2242G>T (p.Val748Leu) c.2215G>T (p.Val739Leu) c.2200G>T (p.Val734Leu) c.1807G>T (p.Val603Leu) c.2269G>T (p.Val757Leu) c.2206G>T (p.Val736Leu) c.2203G>T (p.Val735Leu) c.2161G>T (p.Val721Leu) c.1234G>T (p.Val412Leu)	gnomAD v4
20	g.63407045C=	CA2374774388	KCNQ2	c.2272G= (p.Val758=) c.2218G= (p.Val740=) c.1615G= (p.Val539=) c.2125G= (p.Val709=) c.1786G= (p.Val596=) c.2134G= (p.Val712=) c.2241+1G= (n.2241+1G=) c.2205+1G= (n.2205+1G=) c.2164G= (p.Val722=) c.2133+1G= (n.2133+1G=) c.1680-6202G= (n.1680-6202G=) c.2260G= (p.Val754=) c.2326G= (p.Val776=) c.2323G= (p.Val775=) c.2296G= (p.Val766=) c.2242G= (p.Val748=) c.2215G= (p.Val739=) c.2200G= (p.Val734=) c.1807G= (p.Val603=) c.2269G= (p.Val757=) c.2206G= (p.Val736=) c.2203G= (p.Val735=) c.2161G= (p.Val721=) c.1234G= (p.Val412=)
20	g.63407045C>G	CA409638446	KCNQ2	c.2272G>C (p.Val758Leu) c.2218G>C (p.Val740Leu) c.1615G>C (p.Val539Leu) c.2125G>C (p.Val709Leu) c.1786G>C (p.Val596Leu) c.2134G>C (p.Val712Leu) c.2241+1G>C (n.2241+1G>C) c.2205+1G>C (n.2205+1G>C) c.2164G>C (p.Val722Leu) c.2133+1G>C (n.2133+1G>C) c.1680-6202G>C (n.1680-6202G>C) c.2260G>C (p.Val754Leu) c.2326G>C (p.Val776Leu) c.2323G>C (p.Val775Leu) c.2296G>C (p.Val766Leu) c.2242G>C (p.Val748Leu) c.2215G>C (p.Val739Leu) c.2200G>C (p.Val734Leu) c.1807G>C (p.Val603Leu) c.2269G>C (p.Val757Leu) c.2206G>C (p.Val736Leu) c.2203G>C (p.Val735Leu) c.2161G>C (p.Val721Leu) c.1234G>C (p.Val412Leu)
20	g.63407045C>T	CA9958122	KCNQ2	c.2272G>A (p.Val758Met) c.2218G>A (p.Val740Met) c.1615G>A (p.Val539Met) c.2125G>A (p.Val709Met) c.1786G>A (p.Val596Met) c.2134G>A (p.Val712Met) c.2241+1G>A (n.2241+1G>A) c.2205+1G>A (n.2205+1G>A) c.2164G>A (p.Val722Met) c.2133+1G>A (n.2133+1G>A) c.1680-6202G>A (n.1680-6202G>A) c.2260G>A (p.Val754Met) c.2326G>A (p.Val776Met) c.2323G>A (p.Val775Met) c.2296G>A (p.Val766Met) c.2242G>A (p.Val748Met) c.2215G>A (p.Val739Met) c.2200G>A (p.Val734Met) c.1807G>A (p.Val603Met) c.2269G>A (p.Val757Met) c.2206G>A (p.Val736Met) c.2203G>A (p.Val735Met) c.2161G>A (p.Val721Met) c.1234G>A (p.Val412Met)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.63407046C>A	CA511339473	KCNQ2	c.2271G>T (p.Leu757=) c.2217G>T (p.Leu739=) c.1614G>T (p.Leu538=) c.2124G>T (p.Leu708=) c.1785G>T (p.Leu595=) c.2133G>T (p.Leu711=) c.2241G>T (p.Leu747=) c.2205G>T (p.Leu735=) c.2163G>T (p.Leu721=) c.1680-6203G>T (n.1680-6203G>T) c.2259G>T (p.Leu753=) c.2325G>T (p.Leu775=) c.2322G>T (p.Leu774=) c.2295G>T (p.Leu765=) c.2214G>T (p.Leu738=) c.2199G>T (p.Leu733=) c.1806G>T (p.Leu602=) c.2268G>T (p.Leu756=) c.2202G>T (p.Leu734=) c.2160G>T (p.Leu720=) c.1233G>T (p.Leu411=)	gnomAD v4
20	g.63407046C=	CA2374774389	KCNQ2	c.2271G= (p.Leu757=) c.2217G= (p.Leu739=) c.1614G= (p.Leu538=) c.2124G= (p.Leu708=) c.1785G= (p.Leu595=) c.2133G= (p.Leu711=) c.2241G= (p.Leu747=) c.2205G= (p.Leu735=) c.2163G= (p.Leu721=) c.1680-6203G= (n.1680-6203G=) c.2259G= (p.Leu753=) c.2325G= (p.Leu775=) c.2322G= (p.Leu774=) c.2295G= (p.Leu765=) c.2214G= (p.Leu738=) c.2199G= (p.Leu733=) c.1806G= (p.Leu602=) c.2268G= (p.Leu756=) c.2202G= (p.Leu734=) c.2160G= (p.Leu720=) c.1233G= (p.Leu411=)
20	g.63407046C>G	CA511339474	KCNQ2	c.2271G>C (p.Leu757=) c.2217G>C (p.Leu739=) c.1614G>C (p.Leu538=) c.2124G>C (p.Leu708=) c.1785G>C (p.Leu595=) c.2133G>C (p.Leu711=) c.2241G>C (p.Leu747=) c.2205G>C (p.Leu735=) c.2163G>C (p.Leu721=) c.1680-6203G>C (n.1680-6203G>C) c.2259G>C (p.Leu753=) c.2325G>C (p.Leu775=) c.2322G>C (p.Leu774=) c.2295G>C (p.Leu765=) c.2214G>C (p.Leu738=) c.2199G>C (p.Leu733=) c.1806G>C (p.Leu602=) c.2268G>C (p.Leu756=) c.2202G>C (p.Leu734=) c.2160G>C (p.Leu720=) c.1233G>C (p.Leu411=)	ClinVar dbSNP gnomAD v4
20	g.63407046C>T	CA511339475	KCNQ2	c.2271G>A (p.Leu757=) c.2217G>A (p.Leu739=) c.1614G>A (p.Leu538=) c.2124G>A (p.Leu708=) c.1785G>A (p.Leu595=) c.2133G>A (p.Leu711=) c.2241G>A (p.Leu747=) c.2205G>A (p.Leu735=) c.2163G>A (p.Leu721=) c.1680-6203G>A (n.1680-6203G>A) c.2259G>A (p.Leu753=) c.2325G>A (p.Leu775=) c.2322G>A (p.Leu774=) c.2295G>A (p.Leu765=) c.2214G>A (p.Leu738=) c.2199G>A (p.Leu733=) c.1806G>A (p.Leu602=) c.2268G>A (p.Leu756=) c.2202G>A (p.Leu734=) c.2160G>A (p.Leu720=) c.1233G>A (p.Leu411=)
20	g.63407047A=	CA2374774390	KCNQ2	c.2270T= (p.Leu757=) c.2216T= (p.Leu739=) c.1613T= (p.Leu538=) c.2123T= (p.Leu708=) c.1784T= (p.Leu595=) c.2132T= (p.Leu711=) c.2240T= (p.Leu747=) c.2204T= (p.Leu735=) c.2162T= (p.Leu721=) c.1680-6204T= (n.1680-6204T=) c.2258T= (p.Leu753=) c.2324T= (p.Leu775=) c.2321T= (p.Leu774=) c.2294T= (p.Leu765=) c.2213T= (p.Leu738=) c.2198T= (p.Leu733=) c.1805T= (p.Leu602=) c.2267T= (p.Leu756=) c.2201T= (p.Leu734=) c.2159T= (p.Leu720=) c.1232T= (p.Leu411=)
20	g.63407047A>C	CA409638452	KCNQ2	c.2270T>G (p.Leu757Arg) c.2216T>G (p.Leu739Arg) c.1613T>G (p.Leu538Arg) c.2123T>G (p.Leu708Arg) c.1784T>G (p.Leu595Arg) c.2132T>G (p.Leu711Arg) c.2240T>G (p.Leu747Arg) c.2204T>G (p.Leu735Arg) c.2162T>G (p.Leu721Arg) c.1680-6204T>G (n.1680-6204T>G) c.2258T>G (p.Leu753Arg) c.2324T>G (p.Leu775Arg) c.2321T>G (p.Leu774Arg) c.2294T>G (p.Leu765Arg) c.2213T>G (p.Leu738Arg) c.2198T>G (p.Leu733Arg) c.1805T>G (p.Leu602Arg) c.2267T>G (p.Leu756Arg) c.2201T>G (p.Leu734Arg) c.2159T>G (p.Leu720Arg) c.1232T>G (p.Leu411Arg)
20	g.63407047A>G	CA409638454	KCNQ2	c.2270T>C (p.Leu757Pro) c.2216T>C (p.Leu739Pro) c.1613T>C (p.Leu538Pro) c.2123T>C (p.Leu708Pro) c.1784T>C (p.Leu595Pro) c.2132T>C (p.Leu711Pro) c.2240T>C (p.Leu747Pro) c.2204T>C (p.Leu735Pro) c.2162T>C (p.Leu721Pro) c.1680-6204T>C (n.1680-6204T>C) c.2258T>C (p.Leu753Pro) c.2324T>C (p.Leu775Pro) c.2321T>C (p.Leu774Pro) c.2294T>C (p.Leu765Pro) c.2213T>C (p.Leu738Pro) c.2198T>C (p.Leu733Pro) c.1805T>C (p.Leu602Pro) c.2267T>C (p.Leu756Pro) c.2201T>C (p.Leu734Pro) c.2159T>C (p.Leu720Pro) c.1232T>C (p.Leu411Pro)	gnomAD v4
20	g.63407047A>T	CA409638457	KCNQ2	c.2270T>A (p.Leu757Gln) c.2216T>A (p.Leu739Gln) c.1613T>A (p.Leu538Gln) c.2123T>A (p.Leu708Gln) c.1784T>A (p.Leu595Gln) c.2132T>A (p.Leu711Gln) c.2240T>A (p.Leu747Gln) c.2204T>A (p.Leu735Gln) c.2162T>A (p.Leu721Gln) c.1680-6204T>A (n.1680-6204T>A) c.2258T>A (p.Leu753Gln) c.2324T>A (p.Leu775Gln) c.2321T>A (p.Leu774Gln) c.2294T>A (p.Leu765Gln) c.2213T>A (p.Leu738Gln) c.2198T>A (p.Leu733Gln) c.1805T>A (p.Leu602Gln) c.2267T>A (p.Leu756Gln) c.2201T>A (p.Leu734Gln) c.2159T>A (p.Leu720Gln) c.1232T>A (p.Leu411Gln)	ClinVar dbSNP gnomAD v4
20	g.63407048G>A	CA511339476	KCNQ2	c.2269C>T (p.Leu757=) c.2215C>T (p.Leu739=) c.1612C>T (p.Leu538=) c.2122C>T (p.Leu708=) c.1783C>T (p.Leu595=) c.2131C>T (p.Leu711=) c.2239C>T (p.Leu747=) c.2203C>T (p.Leu735=) c.2161C>T (p.Leu721=) c.1680-6205C>T (n.1680-6205C>T) c.2257C>T (p.Leu753=) c.2323C>T (p.Leu775=) c.2320C>T (p.Leu774=) c.2293C>T (p.Leu765=) c.2212C>T (p.Leu738=) c.2197C>T (p.Leu733=) c.1804C>T (p.Leu602=) c.2266C>T (p.Leu756=) c.2200C>T (p.Leu734=) c.2158C>T (p.Leu720=) c.1231C>T (p.Leu411=)	gnomAD v4
20	g.63407048G>C	CA409638459	KCNQ2	c.2269C>G (p.Leu757Val) c.2215C>G (p.Leu739Val) c.1612C>G (p.Leu538Val) c.2122C>G (p.Leu708Val) c.1783C>G (p.Leu595Val) c.2131C>G (p.Leu711Val) c.2239C>G (p.Leu747Val) c.2203C>G (p.Leu735Val) c.2161C>G (p.Leu721Val) c.1680-6205C>G (n.1680-6205C>G) c.2257C>G (p.Leu753Val) c.2323C>G (p.Leu775Val) c.2320C>G (p.Leu774Val) c.2293C>G (p.Leu765Val) c.2212C>G (p.Leu738Val) c.2197C>G (p.Leu733Val) c.1804C>G (p.Leu602Val) c.2266C>G (p.Leu756Val) c.2200C>G (p.Leu734Val) c.2158C>G (p.Leu720Val) c.1231C>G (p.Leu411Val)	gnomAD v4
20	g.63407048G>T	CA409638462	KCNQ2	c.2269C>A (p.Leu757Met) c.2215C>A (p.Leu739Met) c.1612C>A (p.Leu538Met) c.2122C>A (p.Leu708Met) c.1783C>A (p.Leu595Met) c.2131C>A (p.Leu711Met) c.2239C>A (p.Leu747Met) c.2203C>A (p.Leu735Met) c.2161C>A (p.Leu721Met) c.1680-6205C>A (n.1680-6205C>A) c.2257C>A (p.Leu753Met) c.2323C>A (p.Leu775Met) c.2320C>A (p.Leu774Met) c.2293C>A (p.Leu765Met) c.2212C>A (p.Leu738Met) c.2197C>A (p.Leu733Met) c.1804C>A (p.Leu602Met) c.2266C>A (p.Leu756Met) c.2200C>A (p.Leu734Met) c.2158C>A (p.Leu720Met) c.1231C>A (p.Leu411Met)
20	g.63407050del	CA2653805402	KCNQ2	c.2269del (p.Leu757TrpfsTer?) c.2215del (p.Leu739TrpfsTer?) c.1612del (p.Leu538TrpfsTer?) c.2122del (p.Leu708TrpfsTer?) c.1783del (p.Leu595TrpfsTer?) c.2131del (p.Leu711TrpfsTer?) c.2239del (p.Leu747TrpfsTer?) c.2203del (p.Leu735TrpfsTer?) c.2161del (p.Leu721TrpfsTer?) c.1680-6205del (n.1680-6205del) c.2257del (p.Leu753TrpfsTer?) c.2323del (p.Leu775TrpfsTer?) c.2320del (p.Leu774TrpfsTer?) c.2293del (p.Leu765TrpfsTer?) c.2212del (p.Leu738TrpfsTer?) c.2197del (p.Leu733TrpfsTer?) c.1804del (p.Leu602TrpfsTer?) c.2266del (p.Leu756TrpfsTer?) c.2200del (p.Leu734TrpfsTer?) c.2158del (p.Leu720TrpfsTer?) c.1231del (p.Leu411TrpfsTer?)	gnomAD v4
20	g.63407049G>A	CA511339477	KCNQ2	c.2268C>T (p.Ser756=) c.2214C>T (p.Ser738=) c.1611C>T (p.Ser537=) c.2121C>T (p.Ser707=) c.1782C>T (p.Ser594=) c.2130C>T (p.Ser710=) c.2238C>T (p.Ser746=) c.2202C>T (p.Ser734=) c.2160C>T (p.Ser720=) c.1680-6206C>T (n.1680-6206C>T) c.2256C>T (p.Ser752=) c.2322C>T (p.Ser774=) c.2319C>T (p.Ser773=) c.2292C>T (p.Ser764=) c.2211C>T (p.Ser737=) c.2196C>T (p.Ser732=) c.1803C>T (p.Ser601=) c.2265C>T (p.Ser755=) c.2199C>T (p.Ser733=) c.2157C>T (p.Ser719=) c.1230C>T (p.Ser410=)	gnomAD v4
20	g.63407049G>C	CA511339478	KCNQ2	c.2268C>G (p.Ser756=) c.2214C>G (p.Ser738=) c.1611C>G (p.Ser537=) c.2121C>G (p.Ser707=) c.1782C>G (p.Ser594=) c.2130C>G (p.Ser710=) c.2238C>G (p.Ser746=) c.2202C>G (p.Ser734=) c.2160C>G (p.Ser720=) c.1680-6206C>G (n.1680-6206C>G) c.2256C>G (p.Ser752=) c.2322C>G (p.Ser774=) c.2319C>G (p.Ser773=) c.2292C>G (p.Ser764=) c.2211C>G (p.Ser737=) c.2196C>G (p.Ser732=) c.1803C>G (p.Ser601=) c.2265C>G (p.Ser755=) c.2199C>G (p.Ser733=) c.2157C>G (p.Ser719=) c.1230C>G (p.Ser410=)
20	g.63407049G>T	CA511339479	KCNQ2	c.2268C>A (p.Ser756=) c.2214C>A (p.Ser738=) c.1611C>A (p.Ser537=) c.2121C>A (p.Ser707=) c.1782C>A (p.Ser594=) c.2130C>A (p.Ser710=) c.2238C>A (p.Ser746=) c.2202C>A (p.Ser734=) c.2160C>A (p.Ser720=) c.1680-6206C>A (n.1680-6206C>A) c.2256C>A (p.Ser752=) c.2322C>A (p.Ser774=) c.2319C>A (p.Ser773=) c.2292C>A (p.Ser764=) c.2211C>A (p.Ser737=) c.2196C>A (p.Ser732=) c.1803C>A (p.Ser601=) c.2265C>A (p.Ser755=) c.2199C>A (p.Ser733=) c.2157C>A (p.Ser719=) c.1230C>A (p.Ser410=)	gnomAD v4
20	g.63407050G>A	CA409638471	KCNQ2	c.2267C>T (p.Ser756Phe) c.2213C>T (p.Ser738Phe) c.1610C>T (p.Ser537Phe) c.2120C>T (p.Ser707Phe) c.1781C>T (p.Ser594Phe) c.2129C>T (p.Ser710Phe) c.2237C>T (p.Ser746Phe) c.2201C>T (p.Ser734Phe) c.2159C>T (p.Ser720Phe) c.1680-6207C>T (n.1680-6207C>T) c.2255C>T (p.Ser752Phe) c.2321C>T (p.Ser774Phe) c.2318C>T (p.Ser773Phe) c.2291C>T (p.Ser764Phe) c.2210C>T (p.Ser737Phe) c.2195C>T (p.Ser732Phe) c.1802C>T (p.Ser601Phe) c.2264C>T (p.Ser755Phe) c.2198C>T (p.Ser733Phe) c.2156C>T (p.Ser719Phe) c.1229C>T (p.Ser410Phe)	dbSNP
20	g.63407050G>C	CA409638468	KCNQ2	c.2267C>G (p.Ser756Cys) c.2213C>G (p.Ser738Cys) c.1610C>G (p.Ser537Cys) c.2120C>G (p.Ser707Cys) c.1781C>G (p.Ser594Cys) c.2129C>G (p.Ser710Cys) c.2237C>G (p.Ser746Cys) c.2201C>G (p.Ser734Cys) c.2159C>G (p.Ser720Cys) c.1680-6207C>G (n.1680-6207C>G) c.2255C>G (p.Ser752Cys) c.2321C>G (p.Ser774Cys) c.2318C>G (p.Ser773Cys) c.2291C>G (p.Ser764Cys) c.2210C>G (p.Ser737Cys) c.2195C>G (p.Ser732Cys) c.1802C>G (p.Ser601Cys) c.2264C>G (p.Ser755Cys) c.2198C>G (p.Ser733Cys) c.2156C>G (p.Ser719Cys) c.1229C>G (p.Ser410Cys)
20	g.63407050G=	CA2374774391	KCNQ2	c.2267C= (p.Ser756=) c.2213C= (p.Ser738=) c.1610C= (p.Ser537=) c.2120C= (p.Ser707=) c.1781C= (p.Ser594=) c.2129C= (p.Ser710=) c.2237C= (p.Ser746=) c.2201C= (p.Ser734=) c.2159C= (p.Ser720=) c.1680-6207C= (n.1680-6207C=) c.2255C= (p.Ser752=) c.2321C= (p.Ser774=) c.2318C= (p.Ser773=) c.2291C= (p.Ser764=) c.2210C= (p.Ser737=) c.2195C= (p.Ser732=) c.1802C= (p.Ser601=) c.2264C= (p.Ser755=) c.2198C= (p.Ser733=) c.2156C= (p.Ser719=) c.1229C= (p.Ser410=)
20	g.63407050G>T	CA409638465	KCNQ2	c.2267C>A (p.Ser756Tyr) c.2213C>A (p.Ser738Tyr) c.1610C>A (p.Ser537Tyr) c.2120C>A (p.Ser707Tyr) c.1781C>A (p.Ser594Tyr) c.2129C>A (p.Ser710Tyr) c.2237C>A (p.Ser746Tyr) c.2201C>A (p.Ser734Tyr) c.2159C>A (p.Ser720Tyr) c.1680-6207C>A (n.1680-6207C>A) c.2255C>A (p.Ser752Tyr) c.2321C>A (p.Ser774Tyr) c.2318C>A (p.Ser773Tyr) c.2291C>A (p.Ser764Tyr) c.2210C>A (p.Ser737Tyr) c.2195C>A (p.Ser732Tyr) c.1802C>A (p.Ser601Tyr) c.2264C>A (p.Ser755Tyr) c.2198C>A (p.Ser733Tyr) c.2156C>A (p.Ser719Tyr) c.1229C>A (p.Ser410Tyr)	gnomAD v4
20	g.63407050_63407051insT	CA317422106	KCNQ2	c.2266_2267insA (p.Ser756TyrfsTer?) c.2212_2213insA (p.Ser738TyrfsTer?) c.1609_1610insA (p.Ser537TyrfsTer?) c.2119_2120insA (p.Ser707TyrfsTer?) c.1780_1781insA (p.Ser594TyrfsTer?) c.2128_2129insA (p.Ser710TyrfsTer?) c.2236_2237insA (p.Ser746TyrfsTer?) c.2200_2201insA (p.Ser734TyrfsTer?) c.2158_2159insA (p.Ser720TyrfsTer?) c.1680-6208_1680-6207insA (n.1680-6208_1680-6207insA) c.2254_2255insA (p.Ser752TyrfsTer?) c.2320_2321insA (p.Ser774TyrfsTer?) c.2317_2318insA (p.Ser773TyrfsTer?) c.2290_2291insA (p.Ser764TyrfsTer?) c.2209_2210insA (p.Ser737TyrfsTer?) c.2194_2195insA (p.Ser732TyrfsTer?) c.1801_1802insA (p.Ser601TyrfsTer?) c.2263_2264insA (p.Ser755TyrfsTer?) c.2197_2198insA (p.Ser733TyrfsTer?) c.2155_2156insA (p.Ser719TyrfsTer?) c.1228_1229insA (p.Ser410TyrfsTer?)	dbSNP
20	g.63407051A>C	CA409638475	KCNQ2	c.2266T>G (p.Ser756Ala) c.2212T>G (p.Ser738Ala) c.1609T>G (p.Ser537Ala) c.2119T>G (p.Ser707Ala) c.1780T>G (p.Ser594Ala) c.2128T>G (p.Ser710Ala) c.2236T>G (p.Ser746Ala) c.2200T>G (p.Ser734Ala) c.2158T>G (p.Ser720Ala) c.1680-6208T>G (n.1680-6208T>G) c.2254T>G (p.Ser752Ala) c.2320T>G (p.Ser774Ala) c.2317T>G (p.Ser773Ala) c.2290T>G (p.Ser764Ala) c.2209T>G (p.Ser737Ala) c.2194T>G (p.Ser732Ala) c.1801T>G (p.Ser601Ala) c.2263T>G (p.Ser755Ala) c.2197T>G (p.Ser733Ala) c.2155T>G (p.Ser719Ala) c.1228T>G (p.Ser410Ala)
20	g.63407051A>G	CA409638483	KCNQ2	c.2266T>C (p.Ser756Pro) c.2212T>C (p.Ser738Pro) c.1609T>C (p.Ser537Pro) c.2119T>C (p.Ser707Pro) c.1780T>C (p.Ser594Pro) c.2128T>C (p.Ser710Pro) c.2236T>C (p.Ser746Pro) c.2200T>C (p.Ser734Pro) c.2158T>C (p.Ser720Pro) c.1680-6208T>C (n.1680-6208T>C) c.2254T>C (p.Ser752Pro) c.2320T>C (p.Ser774Pro) c.2317T>C (p.Ser773Pro) c.2290T>C (p.Ser764Pro) c.2209T>C (p.Ser737Pro) c.2194T>C (p.Ser732Pro) c.1801T>C (p.Ser601Pro) c.2263T>C (p.Ser755Pro) c.2197T>C (p.Ser733Pro) c.2155T>C (p.Ser719Pro) c.1228T>C (p.Ser410Pro)	gnomAD v4
20	g.63407051A>T	CA409638480	KCNQ2	c.2266T>A (p.Ser756Thr) c.2212T>A (p.Ser738Thr) c.1609T>A (p.Ser537Thr) c.2119T>A (p.Ser707Thr) c.1780T>A (p.Ser594Thr) c.2128T>A (p.Ser710Thr) c.2236T>A (p.Ser746Thr) c.2200T>A (p.Ser734Thr) c.2158T>A (p.Ser720Thr) c.1680-6208T>A (n.1680-6208T>A) c.2254T>A (p.Ser752Thr) c.2320T>A (p.Ser774Thr) c.2317T>A (p.Ser773Thr) c.2290T>A (p.Ser764Thr) c.2209T>A (p.Ser737Thr) c.2194T>A (p.Ser732Thr) c.1801T>A (p.Ser601Thr) c.2263T>A (p.Ser755Thr) c.2197T>A (p.Ser733Thr) c.2155T>A (p.Ser719Thr) c.1228T>A (p.Ser410Thr)
20	g.63407052G>A	CA511339480	KCNQ2	c.2265C>T (p.Gly755=) c.2211C>T (p.Gly737=) c.1608C>T (p.Gly536=) c.2118C>T (p.Gly706=) c.1779C>T (p.Gly593=) c.2127C>T (p.Gly709=) c.2235C>T (p.Gly745=) c.2199C>T (p.Gly733=) c.2157C>T (p.Gly719=) c.1680-6209C>T (n.1680-6209C>T) c.2253C>T (p.Gly751=) c.2319C>T (p.Gly773=) c.2316C>T (p.Gly772=) c.2289C>T (p.Gly763=) c.2208C>T (p.Gly736=) c.2193C>T (p.Gly731=) c.1800C>T (p.Gly600=) c.2262C>T (p.Gly754=) c.2196C>T (p.Gly732=) c.2154C>T (p.Gly718=) c.1227C>T (p.Gly409=)
20	g.63407052G>C	CA511339481	KCNQ2	c.2265C>G (p.Gly755=) c.2211C>G (p.Gly737=) c.1608C>G (p.Gly536=) c.2118C>G (p.Gly706=) c.1779C>G (p.Gly593=) c.2127C>G (p.Gly709=) c.2235C>G (p.Gly745=) c.2199C>G (p.Gly733=) c.2157C>G (p.Gly719=) c.1680-6209C>G (n.1680-6209C>G) c.2253C>G (p.Gly751=) c.2319C>G (p.Gly773=) c.2316C>G (p.Gly772=) c.2289C>G (p.Gly763=) c.2208C>G (p.Gly736=) c.2193C>G (p.Gly731=) c.1800C>G (p.Gly600=) c.2262C>G (p.Gly754=) c.2196C>G (p.Gly732=) c.2154C>G (p.Gly718=) c.1227C>G (p.Gly409=)
20	g.63407052G>T	CA511339482	KCNQ2	c.2265C>A (p.Gly755=) c.2211C>A (p.Gly737=) c.1608C>A (p.Gly536=) c.2118C>A (p.Gly706=) c.1779C>A (p.Gly593=) c.2127C>A (p.Gly709=) c.2235C>A (p.Gly745=) c.2199C>A (p.Gly733=) c.2157C>A (p.Gly719=) c.1680-6209C>A (n.1680-6209C>A) c.2253C>A (p.Gly751=) c.2319C>A (p.Gly773=) c.2316C>A (p.Gly772=) c.2289C>A (p.Gly763=) c.2208C>A (p.Gly736=) c.2193C>A (p.Gly731=) c.1800C>A (p.Gly600=) c.2262C>A (p.Gly754=) c.2196C>A (p.Gly732=) c.2154C>A (p.Gly718=) c.1227C>A (p.Gly409=)	gnomAD v4
20	g.63407059_63407082dup	CA2653805403	KCNQ2	c.2242_2265dup (p.Gly755_Ser756insThrSerProValGlyAspHisGly) c.2188_2211dup (p.Gly737_Ser738insThrSerProValGlyAspHisGly) c.1585_1608dup (p.Gly536_Ser537insThrSerProValGlyAspHisGly) c.2095_2118dup (p.Gly706_Ser707insThrSerProValGlyAspHisGly) c.1756_1779dup (p.Gly593_Ser594insThrSerProValGlyAspHisGly) c.2104_2127dup (p.Gly709_Ser710insThrSerProValGlyAspHisGly) c.2212_2235dup (p.Gly745_Ser746insThrSerProValGlyAspHisGly) c.2176_2199dup (p.Gly733_Ser734insThrSerProValGlyAspHisGly) c.2134_2157dup (p.Gly719_Ser720insThrSerProValGlyAspHisGly) c.1680-6232_1680-6209dup (n.1680-6232_1680-6209dup) c.2230_2253dup (p.Gly751_Ser752insThrSerProValGlyAspHisGly) c.2296_2319dup (p.Gly773_Ser774insThrSerProValGlyAspHisGly) c.2293_2316dup (p.Gly772_Ser773insThrSerProValGlyAspHisGly) c.2266_2289dup (p.Gly763_Ser764insThrSerProValGlyAspHisGly) c.2185_2208dup (p.Gly736_Ser737insThrSerProValGlyAspHisGly) c.2170_2193dup (p.Gly731_Ser732insThrSerProValGlyAspHisGly) c.1777_1800dup (p.Gly600_Ser601insThrSerProValGlyAspHisGly) c.2239_2262dup (p.Gly754_Ser755insThrSerProValGlyAspHisGly) c.2173_2196dup (p.Gly732_Ser733insThrSerProValGlyAspHisGly) c.2131_2154dup (p.Gly718_Ser719insThrSerProValGlyAspHisGly) c.1204_1227dup (p.Gly409_Ser410insThrSerProValGlyAspHisGly)	gnomAD v4
20	g.63407053C>A	CA9958123	KCNQ2	c.2264G>T (p.Gly755Val) c.2210G>T (p.Gly737Val) c.1607G>T (p.Gly536Val) c.2117G>T (p.Gly706Val) c.1778G>T (p.Gly593Val) c.2126G>T (p.Gly709Val) c.2234G>T (p.Gly745Val) c.2198G>T (p.Gly733Val) c.2156G>T (p.Gly719Val) c.1680-6210G>T (n.1680-6210G>T) c.2252G>T (p.Gly751Val) c.2318G>T (p.Gly773Val) c.2315G>T (p.Gly772Val) c.2288G>T (p.Gly763Val) c.2207G>T (p.Gly736Val) c.2192G>T (p.Gly731Val) c.1799G>T (p.Gly600Val) c.2261G>T (p.Gly754Val) c.2195G>T (p.Gly732Val) c.2153G>T (p.Gly718Val) c.1226G>T (p.Gly409Val)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.63407053C=	CA2374774392	KCNQ2	c.2264G= (p.Gly755=) c.2210G= (p.Gly737=) c.1607G= (p.Gly536=) c.2117G= (p.Gly706=) c.1778G= (p.Gly593=) c.2126G= (p.Gly709=) c.2234G= (p.Gly745=) c.2198G= (p.Gly733=) c.2156G= (p.Gly719=) c.1680-6210G= (n.1680-6210G=) c.2252G= (p.Gly751=) c.2318G= (p.Gly773=) c.2315G= (p.Gly772=) c.2288G= (p.Gly763=) c.2207G= (p.Gly736=) c.2192G= (p.Gly731=) c.1799G= (p.Gly600=) c.2261G= (p.Gly754=) c.2195G= (p.Gly732=) c.2153G= (p.Gly718=) c.1226G= (p.Gly409=)
20	g.63407053C>G	CA409638488	KCNQ2	c.2264G>C (p.Gly755Ala) c.2210G>C (p.Gly737Ala) c.1607G>C (p.Gly536Ala) c.2117G>C (p.Gly706Ala) c.1778G>C (p.Gly593Ala) c.2126G>C (p.Gly709Ala) c.2234G>C (p.Gly745Ala) c.2198G>C (p.Gly733Ala) c.2156G>C (p.Gly719Ala) c.1680-6210G>C (n.1680-6210G>C) c.2252G>C (p.Gly751Ala) c.2318G>C (p.Gly773Ala) c.2315G>C (p.Gly772Ala) c.2288G>C (p.Gly763Ala) c.2207G>C (p.Gly736Ala) c.2192G>C (p.Gly731Ala) c.1799G>C (p.Gly600Ala) c.2261G>C (p.Gly754Ala) c.2195G>C (p.Gly732Ala) c.2153G>C (p.Gly718Ala) c.1226G>C (p.Gly409Ala)
20	g.63407053C>T	CA409638492	KCNQ2	c.2264G>A (p.Gly755Asp) c.2210G>A (p.Gly737Asp) c.1607G>A (p.Gly536Asp) c.2117G>A (p.Gly706Asp) c.1778G>A (p.Gly593Asp) c.2126G>A (p.Gly709Asp) c.2234G>A (p.Gly745Asp) c.2198G>A (p.Gly733Asp) c.2156G>A (p.Gly719Asp) c.1680-6210G>A (n.1680-6210G>A) c.2252G>A (p.Gly751Asp) c.2318G>A (p.Gly773Asp) c.2315G>A (p.Gly772Asp) c.2288G>A (p.Gly763Asp) c.2207G>A (p.Gly736Asp) c.2192G>A (p.Gly731Asp) c.1799G>A (p.Gly600Asp) c.2261G>A (p.Gly754Asp) c.2195G>A (p.Gly732Asp) c.2153G>A (p.Gly718Asp) c.1226G>A (p.Gly409Asp)	ClinVar dbSNP gnomAD v4
20	g.63407054C>A	CA409638495	KCNQ2	c.2263G>T (p.Gly755Cys) c.2209G>T (p.Gly737Cys) c.1606G>T (p.Gly536Cys) c.2116G>T (p.Gly706Cys) c.1777G>T (p.Gly593Cys) c.2125G>T (p.Gly709Cys) c.2233G>T (p.Gly745Cys) c.2197G>T (p.Gly733Cys) c.2155G>T (p.Gly719Cys) c.1680-6211G>T (n.1680-6211G>T) c.2251G>T (p.Gly751Cys) c.2317G>T (p.Gly773Cys) c.2314G>T (p.Gly772Cys) c.2287G>T (p.Gly763Cys) c.2206G>T (p.Gly736Cys) c.2191G>T (p.Gly731Cys) c.1798G>T (p.Gly600Cys) c.2260G>T (p.Gly754Cys) c.2194G>T (p.Gly732Cys) c.2152G>T (p.Gly718Cys) c.1225G>T (p.Gly409Cys)	gnomAD v4
20	g.63407054C=	CA2374774393	KCNQ2	c.2263G= (p.Gly755=) c.2209G= (p.Gly737=) c.1606G= (p.Gly536=) c.2116G= (p.Gly706=) c.1777G= (p.Gly593=) c.2125G= (p.Gly709=) c.2233G= (p.Gly745=) c.2197G= (p.Gly733=) c.2155G= (p.Gly719=) c.1680-6211G= (n.1680-6211G=) c.2251G= (p.Gly751=) c.2317G= (p.Gly773=) c.2314G= (p.Gly772=) c.2287G= (p.Gly763=) c.2206G= (p.Gly736=) c.2191G= (p.Gly731=) c.1798G= (p.Gly600=) c.2260G= (p.Gly754=) c.2194G= (p.Gly732=) c.2152G= (p.Gly718=) c.1225G= (p.Gly409=)
20	g.63407054C>G	CA409638498	KCNQ2	c.2263G>C (p.Gly755Arg) c.2209G>C (p.Gly737Arg) c.1606G>C (p.Gly536Arg) c.2116G>C (p.Gly706Arg) c.1777G>C (p.Gly593Arg) c.2125G>C (p.Gly709Arg) c.2233G>C (p.Gly745Arg) c.2197G>C (p.Gly733Arg) c.2155G>C (p.Gly719Arg) c.1680-6211G>C (n.1680-6211G>C) c.2251G>C (p.Gly751Arg) c.2317G>C (p.Gly773Arg) c.2314G>C (p.Gly772Arg) c.2287G>C (p.Gly763Arg) c.2206G>C (p.Gly736Arg) c.2191G>C (p.Gly731Arg) c.1798G>C (p.Gly600Arg) c.2260G>C (p.Gly754Arg) c.2194G>C (p.Gly732Arg) c.2152G>C (p.Gly718Arg) c.1225G>C (p.Gly409Arg)
20	g.63407054C>T	CA9958124	KCNQ2	c.2263G>A (p.Gly755Ser) c.2209G>A (p.Gly737Ser) c.1606G>A (p.Gly536Ser) c.2116G>A (p.Gly706Ser) c.1777G>A (p.Gly593Ser) c.2125G>A (p.Gly709Ser) c.2233G>A (p.Gly745Ser) c.2197G>A (p.Gly733Ser) c.2155G>A (p.Gly719Ser) c.1680-6211G>A (n.1680-6211G>A) c.2251G>A (p.Gly751Ser) c.2317G>A (p.Gly773Ser) c.2314G>A (p.Gly772Ser) c.2287G>A (p.Gly763Ser) c.2206G>A (p.Gly736Ser) c.2191G>A (p.Gly731Ser) c.1798G>A (p.Gly600Ser) c.2260G>A (p.Gly754Ser) c.2194G>A (p.Gly732Ser) c.2152G>A (p.Gly718Ser) c.1225G>A (p.Gly409Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63407055G>A	CA9958125	KCNQ2	c.2262C>T (p.His754=) c.2208C>T (p.His736=) c.1605C>T (p.His535=) c.2115C>T (p.His705=) c.1776C>T (p.His592=) c.2124C>T (p.His708=) c.2232C>T (p.His744=) c.2196C>T (p.His732=) c.2154C>T (p.His718=) c.1680-6212C>T (n.1680-6212C>T) c.2250C>T (p.His750=) c.2316C>T (p.His772=) c.2313C>T (p.His771=) c.2286C>T (p.His762=) c.2205C>T (p.His735=) c.2190C>T (p.His730=) c.1797C>T (p.His599=) c.2259C>T (p.His753=) c.2193C>T (p.His731=) c.2151C>T (p.His717=) c.1224C>T (p.His408=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20	g.63407055G>C	CA409638509	KCNQ2	c.2262C>G (p.His754Gln) c.2208C>G (p.His736Gln) c.1605C>G (p.His535Gln) c.2115C>G (p.His705Gln) c.1776C>G (p.His592Gln) c.2124C>G (p.His708Gln) c.2232C>G (p.His744Gln) c.2196C>G (p.His732Gln) c.2154C>G (p.His718Gln) c.1680-6212C>G (n.1680-6212C>G) c.2250C>G (p.His750Gln) c.2316C>G (p.His772Gln) c.2313C>G (p.His771Gln) c.2286C>G (p.His762Gln) c.2205C>G (p.His735Gln) c.2190C>G (p.His730Gln) c.1797C>G (p.His599Gln) c.2259C>G (p.His753Gln) c.2193C>G (p.His731Gln) c.2151C>G (p.His717Gln) c.1224C>G (p.His408Gln)
20	g.63407055G=	CA2374774394	KCNQ2	c.2262C= (p.His754=) c.2208C= (p.His736=) c.1605C= (p.His535=) c.2115C= (p.His705=) c.1776C= (p.His592=) c.2124C= (p.His708=) c.2232C= (p.His744=) c.2196C= (p.His732=) c.2154C= (p.His718=) c.1680-6212C= (n.1680-6212C=) c.2250C= (p.His750=) c.2316C= (p.His772=) c.2313C= (p.His771=) c.2286C= (p.His762=) c.2205C= (p.His735=) c.2190C= (p.His730=) c.1797C= (p.His599=) c.2259C= (p.His753=) c.2193C= (p.His731=) c.2151C= (p.His717=) c.1224C= (p.His408=)
20	g.63407055G>T	CA409638512	KCNQ2	c.2262C>A (p.His754Gln) c.2208C>A (p.His736Gln) c.1605C>A (p.His535Gln) c.2115C>A (p.His705Gln) c.1776C>A (p.His592Gln) c.2124C>A (p.His708Gln) c.2232C>A (p.His744Gln) c.2196C>A (p.His732Gln) c.2154C>A (p.His718Gln) c.1680-6212C>A (n.1680-6212C>A) c.2250C>A (p.His750Gln) c.2316C>A (p.His772Gln) c.2313C>A (p.His771Gln) c.2286C>A (p.His762Gln) c.2205C>A (p.His735Gln) c.2190C>A (p.His730Gln) c.1797C>A (p.His599Gln) c.2259C>A (p.His753Gln) c.2193C>A (p.His731Gln) c.2151C>A (p.His717Gln) c.1224C>A (p.His408Gln)	dbSNP gnomAD v2 gnomAD v4
20	g.63407056T>A	CA409638515	KCNQ2	c.2261A>T (p.His754Leu) c.2207A>T (p.His736Leu) c.1604A>T (p.His535Leu) c.2114A>T (p.His705Leu) c.1775A>T (p.His592Leu) c.2123A>T (p.His708Leu) c.2231A>T (p.His744Leu) c.2195A>T (p.His732Leu) c.2153A>T (p.His718Leu) c.1680-6213A>T (n.1680-6213A>T) c.2249A>T (p.His750Leu) c.2315A>T (p.His772Leu) c.2312A>T (p.His771Leu) c.2285A>T (p.His762Leu) c.2204A>T (p.His735Leu) c.2189A>T (p.His730Leu) c.1796A>T (p.His599Leu) c.2258A>T (p.His753Leu) c.2192A>T (p.His731Leu) c.2150A>T (p.His717Leu) c.1223A>T (p.His408Leu)
20	g.63407056T>C	CA409638517	KCNQ2	c.2261A>G (p.His754Arg) c.2207A>G (p.His736Arg) c.1604A>G (p.His535Arg) c.2114A>G (p.His705Arg) c.1775A>G (p.His592Arg) c.2123A>G (p.His708Arg) c.2231A>G (p.His744Arg) c.2195A>G (p.His732Arg) c.2153A>G (p.His718Arg) c.1680-6213A>G (n.1680-6213A>G) c.2249A>G (p.His750Arg) c.2315A>G (p.His772Arg) c.2312A>G (p.His771Arg) c.2285A>G (p.His762Arg) c.2204A>G (p.His735Arg) c.2189A>G (p.His730Arg) c.1796A>G (p.His599Arg) c.2258A>G (p.His753Arg) c.2192A>G (p.His731Arg) c.2150A>G (p.His717Arg) c.1223A>G (p.His408Arg)	gnomAD v4
20	g.63407056T>G	CA409638519	KCNQ2	c.2261A>C (p.His754Pro) c.2207A>C (p.His736Pro) c.1604A>C (p.His535Pro) c.2114A>C (p.His705Pro) c.1775A>C (p.His592Pro) c.2123A>C (p.His708Pro) c.2231A>C (p.His744Pro) c.2195A>C (p.His732Pro) c.2153A>C (p.His718Pro) c.1680-6213A>C (n.1680-6213A>C) c.2249A>C (p.His750Pro) c.2315A>C (p.His772Pro) c.2312A>C (p.His771Pro) c.2285A>C (p.His762Pro) c.2204A>C (p.His735Pro) c.2189A>C (p.His730Pro) c.1796A>C (p.His599Pro) c.2258A>C (p.His753Pro) c.2192A>C (p.His731Pro) c.2150A>C (p.His717Pro) c.1223A>C (p.His408Pro)
20	g.63407057G>A	CA409638526	KCNQ2	c.2260C>T (p.His754Tyr) c.2206C>T (p.His736Tyr) c.1603C>T (p.His535Tyr) c.2113C>T (p.His705Tyr) c.1774C>T (p.His592Tyr) c.2122C>T (p.His708Tyr) c.2230C>T (p.His744Tyr) c.2194C>T (p.His732Tyr) c.2152C>T (p.His718Tyr) c.1680-6214C>T (n.1680-6214C>T) c.2248C>T (p.His750Tyr) c.2314C>T (p.His772Tyr) c.2311C>T (p.His771Tyr) c.2284C>T (p.His762Tyr) c.2203C>T (p.His735Tyr) c.2188C>T (p.His730Tyr) c.1795C>T (p.His599Tyr) c.2257C>T (p.His753Tyr) c.2191C>T (p.His731Tyr) c.2149C>T (p.His717Tyr) c.1222C>T (p.His408Tyr)	gnomAD v4
20	g.63407057G>C	CA409638523	KCNQ2	c.2260C>G (p.His754Asp) c.2206C>G (p.His736Asp) c.1603C>G (p.His535Asp) c.2113C>G (p.His705Asp) c.1774C>G (p.His592Asp) c.2122C>G (p.His708Asp) c.2230C>G (p.His744Asp) c.2194C>G (p.His732Asp) c.2152C>G (p.His718Asp) c.1680-6214C>G (n.1680-6214C>G) c.2248C>G (p.His750Asp) c.2314C>G (p.His772Asp) c.2311C>G (p.His771Asp) c.2284C>G (p.His762Asp) c.2203C>G (p.His735Asp) c.2188C>G (p.His730Asp) c.1795C>G (p.His599Asp) c.2257C>G (p.His753Asp) c.2191C>G (p.His731Asp) c.2149C>G (p.His717Asp) c.1222C>G (p.His408Asp)
20	g.63407057G>T	CA409638525	KCNQ2	c.2260C>A (p.His754Asn) c.2206C>A (p.His736Asn) c.1603C>A (p.His535Asn) c.2113C>A (p.His705Asn) c.1774C>A (p.His592Asn) c.2122C>A (p.His708Asn) c.2230C>A (p.His744Asn) c.2194C>A (p.His732Asn) c.2152C>A (p.His718Asn) c.1680-6214C>A (n.1680-6214C>A) c.2248C>A (p.His750Asn) c.2314C>A (p.His772Asn) c.2311C>A (p.His771Asn) c.2284C>A (p.His762Asn) c.2203C>A (p.His735Asn) c.2188C>A (p.His730Asn) c.1795C>A (p.His599Asn) c.2257C>A (p.His753Asn) c.2191C>A (p.His731Asn) c.2149C>A (p.His717Asn) c.1222C>A (p.His408Asn)	gnomAD v4
20	g.63407058G>A	CA511339483	KCNQ2	c.2259C>T (p.Asp753=) c.2205C>T (p.Asp735=) c.1602C>T (p.Asp534=) c.2112C>T (p.Asp704=) c.1773C>T (p.Asp591=) c.2121C>T (p.Asp707=) c.2229C>T (p.Asp743=) c.2193C>T (p.Asp731=) c.2151C>T (p.Asp717=) c.1680-6215C>T (n.1680-6215C>T) c.2247C>T (p.Asp749=) c.2313C>T (p.Asp771=) c.2310C>T (p.Asp770=) c.2283C>T (p.Asp761=) c.2202C>T (p.Asp734=) c.2187C>T (p.Asp729=) c.1794C>T (p.Asp598=) c.2256C>T (p.Asp752=) c.2190C>T (p.Asp730=) c.2148C>T (p.Asp716=) c.1221C>T (p.Asp407=)	gnomAD v4
20	g.63407058G>C	CA409638530	KCNQ2	c.2259C>G (p.Asp753Glu) c.2205C>G (p.Asp735Glu) c.1602C>G (p.Asp534Glu) c.2112C>G (p.Asp704Glu) c.1773C>G (p.Asp591Glu) c.2121C>G (p.Asp707Glu) c.2229C>G (p.Asp743Glu) c.2193C>G (p.Asp731Glu) c.2151C>G (p.Asp717Glu) c.1680-6215C>G (n.1680-6215C>G) c.2247C>G (p.Asp749Glu) c.2313C>G (p.Asp771Glu) c.2310C>G (p.Asp770Glu) c.2283C>G (p.Asp761Glu) c.2202C>G (p.Asp734Glu) c.2187C>G (p.Asp729Glu) c.1794C>G (p.Asp598Glu) c.2256C>G (p.Asp752Glu) c.2190C>G (p.Asp730Glu) c.2148C>G (p.Asp716Glu) c.1221C>G (p.Asp407Glu)
20	g.63407058G>T	CA409638533	KCNQ2	c.2259C>A (p.Asp753Glu) c.2205C>A (p.Asp735Glu) c.1602C>A (p.Asp534Glu) c.2112C>A (p.Asp704Glu) c.1773C>A (p.Asp591Glu) c.2121C>A (p.Asp707Glu) c.2229C>A (p.Asp743Glu) c.2193C>A (p.Asp731Glu) c.2151C>A (p.Asp717Glu) c.1680-6215C>A (n.1680-6215C>A) c.2247C>A (p.Asp749Glu) c.2313C>A (p.Asp771Glu) c.2310C>A (p.Asp770Glu) c.2283C>A (p.Asp761Glu) c.2202C>A (p.Asp734Glu) c.2187C>A (p.Asp729Glu) c.1794C>A (p.Asp598Glu) c.2256C>A (p.Asp752Glu) c.2190C>A (p.Asp730Glu) c.2148C>A (p.Asp716Glu) c.1221C>A (p.Asp407Glu)	gnomAD v4
20	g.63407059del	CA2573157301	KCNQ2	c.2258del (p.Asp753AlafsTer?) c.2204del (p.Asp735AlafsTer?) c.1601del (p.Asp534AlafsTer?) c.2111del (p.Asp704AlafsTer?) c.1772del (p.Asp591AlafsTer?) c.2120del (p.Asp707AlafsTer?) c.2228del (p.Asp743AlafsTer?) c.2192del (p.Asp731AlafsTer?) c.2150del (p.Asp717AlafsTer?) c.1680-6216del (n.1680-6216del) c.2246del (p.Asp749AlafsTer?) c.2312del (p.Asp771AlafsTer?) c.2309del (p.Asp770AlafsTer?) c.2282del (p.Asp761AlafsTer?) c.2201del (p.Asp734AlafsTer?) c.2186del (p.Asp729AlafsTer?) c.1793del (p.Asp598AlafsTer?) c.2255del (p.Asp752AlafsTer?) c.2189del (p.Asp730AlafsTer?) c.2147del (p.Asp716AlafsTer?) c.1220del (p.Asp407AlafsTer?)	ClinVar dbSNP
20	g.63407059T>A	CA409638535	KCNQ2	c.2258A>T (p.Asp753Val) c.2204A>T (p.Asp735Val) c.1601A>T (p.Asp534Val) c.2111A>T (p.Asp704Val) c.1772A>T (p.Asp591Val) c.2120A>T (p.Asp707Val) c.2228A>T (p.Asp743Val) c.2192A>T (p.Asp731Val) c.2150A>T (p.Asp717Val) c.1680-6216A>T (n.1680-6216A>T) c.2246A>T (p.Asp749Val) c.2312A>T (p.Asp771Val) c.2309A>T (p.Asp770Val) c.2282A>T (p.Asp761Val) c.2201A>T (p.Asp734Val) c.2186A>T (p.Asp729Val) c.1793A>T (p.Asp598Val) c.2255A>T (p.Asp752Val) c.2189A>T (p.Asp730Val) c.2147A>T (p.Asp716Val) c.1220A>T (p.Asp407Val)
20	g.63407059T>C	CA409638538	KCNQ2	c.2258A>G (p.Asp753Gly) c.2204A>G (p.Asp735Gly) c.1601A>G (p.Asp534Gly) c.2111A>G (p.Asp704Gly) c.1772A>G (p.Asp591Gly) c.2120A>G (p.Asp707Gly) c.2228A>G (p.Asp743Gly) c.2192A>G (p.Asp731Gly) c.2150A>G (p.Asp717Gly) c.1680-6216A>G (n.1680-6216A>G) c.2246A>G (p.Asp749Gly) c.2312A>G (p.Asp771Gly) c.2309A>G (p.Asp770Gly) c.2282A>G (p.Asp761Gly) c.2201A>G (p.Asp734Gly) c.2186A>G (p.Asp729Gly) c.1793A>G (p.Asp598Gly) c.2255A>G (p.Asp752Gly) c.2189A>G (p.Asp730Gly) c.2147A>G (p.Asp716Gly) c.1220A>G (p.Asp407Gly)	ClinVar dbSNP gnomAD v4
20	g.63407059T>G	CA9958126	KCNQ2	c.2258A>C (p.Asp753Ala) c.2204A>C (p.Asp735Ala) c.1601A>C (p.Asp534Ala) c.2111A>C (p.Asp704Ala) c.1772A>C (p.Asp591Ala) c.2120A>C (p.Asp707Ala) c.2228A>C (p.Asp743Ala) c.2192A>C (p.Asp731Ala) c.2150A>C (p.Asp717Ala) c.1680-6216A>C (n.1680-6216A>C) c.2246A>C (p.Asp749Ala) c.2312A>C (p.Asp771Ala) c.2309A>C (p.Asp770Ala) c.2282A>C (p.Asp761Ala) c.2201A>C (p.Asp734Ala) c.2186A>C (p.Asp729Ala) c.1793A>C (p.Asp598Ala) c.2255A>C (p.Asp752Ala) c.2189A>C (p.Asp730Ala) c.2147A>C (p.Asp716Ala) c.1220A>C (p.Asp407Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.63407059T=	CA2374774395	KCNQ2	c.2258A= (p.Asp753=) c.2204A= (p.Asp735=) c.1601A= (p.Asp534=) c.2111A= (p.Asp704=) c.1772A= (p.Asp591=) c.2120A= (p.Asp707=) c.2228A= (p.Asp743=) c.2192A= (p.Asp731=) c.2150A= (p.Asp717=) c.1680-6216A= (n.1680-6216A=) c.2246A= (p.Asp749=) c.2312A= (p.Asp771=) c.2309A= (p.Asp770=) c.2282A= (p.Asp761=) c.2201A= (p.Asp734=) c.2186A= (p.Asp729=) c.1793A= (p.Asp598=) c.2255A= (p.Asp752=) c.2189A= (p.Asp730=) c.2147A= (p.Asp716=) c.1220A= (p.Asp407=)
20	g.63407060C>A	CA409638542	KCNQ2	c.2257G>T (p.Asp753Tyr) c.2203G>T (p.Asp735Tyr) c.1600G>T (p.Asp534Tyr) c.2110G>T (p.Asp704Tyr) c.1771G>T (p.Asp591Tyr) c.2119G>T (p.Asp707Tyr) c.2227G>T (p.Asp743Tyr) c.2191G>T (p.Asp731Tyr) c.2149G>T (p.Asp717Tyr) c.1680-6217G>T (n.1680-6217G>T) c.2245G>T (p.Asp749Tyr) c.2311G>T (p.Asp771Tyr) c.2308G>T (p.Asp770Tyr) c.2281G>T (p.Asp761Tyr) c.2200G>T (p.Asp734Tyr) c.2185G>T (p.Asp729Tyr) c.1792G>T (p.Asp598Tyr) c.2254G>T (p.Asp752Tyr) c.2188G>T (p.Asp730Tyr) c.2146G>T (p.Asp716Tyr) c.1219G>T (p.Asp407Tyr)	ClinVar gnomAD v4
20	g.63407060C=	CA2374774396	KCNQ2	c.2257G= (p.Asp753=) c.2203G= (p.Asp735=) c.1600G= (p.Asp534=) c.2110G= (p.Asp704=) c.1771G= (p.Asp591=) c.2119G= (p.Asp707=) c.2227G= (p.Asp743=) c.2191G= (p.Asp731=) c.2149G= (p.Asp717=) c.1680-6217G= (n.1680-6217G=) c.2245G= (p.Asp749=) c.2311G= (p.Asp771=) c.2308G= (p.Asp770=) c.2281G= (p.Asp761=) c.2200G= (p.Asp734=) c.2185G= (p.Asp729=) c.1792G= (p.Asp598=) c.2254G= (p.Asp752=) c.2188G= (p.Asp730=) c.2146G= (p.Asp716=) c.1219G= (p.Asp407=)
20	g.63407060C>G	CA409638545	KCNQ2	c.2257G>C (p.Asp753His) c.2203G>C (p.Asp735His) c.1600G>C (p.Asp534His) c.2110G>C (p.Asp704His) c.1771G>C (p.Asp591His) c.2119G>C (p.Asp707His) c.2227G>C (p.Asp743His) c.2191G>C (p.Asp731His) c.2149G>C (p.Asp717His) c.1680-6217G>C (n.1680-6217G>C) c.2245G>C (p.Asp749His) c.2311G>C (p.Asp771His) c.2308G>C (p.Asp770His) c.2281G>C (p.Asp761His) c.2200G>C (p.Asp734His) c.2185G>C (p.Asp729His) c.1792G>C (p.Asp598His) c.2254G>C (p.Asp752His) c.2188G>C (p.Asp730His) c.2146G>C (p.Asp716His) c.1219G>C (p.Asp407His)
20	g.63407060C>T	CA409638548	KCNQ2	c.2257G>A (p.Asp753Asn) c.2203G>A (p.Asp735Asn) c.1600G>A (p.Asp534Asn) c.2110G>A (p.Asp704Asn) c.1771G>A (p.Asp591Asn) c.2119G>A (p.Asp707Asn) c.2227G>A (p.Asp743Asn) c.2191G>A (p.Asp731Asn) c.2149G>A (p.Asp717Asn) c.1680-6217G>A (n.1680-6217G>A) c.2245G>A (p.Asp749Asn) c.2311G>A (p.Asp771Asn) c.2308G>A (p.Asp770Asn) c.2281G>A (p.Asp761Asn) c.2200G>A (p.Asp734Asn) c.2185G>A (p.Asp729Asn) c.1792G>A (p.Asp598Asn) c.2254G>A (p.Asp752Asn) c.2188G>A (p.Asp730Asn) c.2146G>A (p.Asp716Asn) c.1219G>A (p.Asp407Asn)	ClinVar dbSNP gnomAD v2 gnomAD v4
20	g.63407064del	CA2653805408	KCNQ2	c.2257del (p.Asp753ThrfsTer?) c.2203del (p.Asp735ThrfsTer?) c.1600del (p.Asp534ThrfsTer?) c.2110del (p.Asp704ThrfsTer?) c.1771del (p.Asp591ThrfsTer?) c.2119del (p.Asp707ThrfsTer?) c.2227del (p.Asp743ThrfsTer?) c.2191del (p.Asp731ThrfsTer?) c.2149del (p.Asp717ThrfsTer?) c.1680-6217del (n.1680-6217del) c.2245del (p.Asp749ThrfsTer?) c.2311del (p.Asp771ThrfsTer?) c.2308del (p.Asp770ThrfsTer?) c.2281del (p.Asp761ThrfsTer?) c.2200del (p.Asp734ThrfsTer?) c.2185del (p.Asp729ThrfsTer?) c.1792del (p.Asp598ThrfsTer?) c.2254del (p.Asp752ThrfsTer?) c.2188del (p.Asp730ThrfsTer?) c.2146del (p.Asp716ThrfsTer?) c.1219del (p.Asp407ThrfsTer?)	gnomAD v4
20	g.63407061C>A	CA511339484	KCNQ2	c.2256G>T (p.Gly752=) c.2202G>T (p.Gly734=) c.1599G>T (p.Gly533=) c.2109G>T (p.Gly703=) c.1770G>T (p.Gly590=) c.2118G>T (p.Gly706=) c.2226G>T (p.Gly742=) c.2190G>T (p.Gly730=) c.2148G>T (p.Gly716=) c.1680-6218G>T (n.1680-6218G>T) c.2244G>T (p.Gly748=) c.2310G>T (p.Gly770=) c.2307G>T (p.Gly769=) c.2280G>T (p.Gly760=) c.2199G>T (p.Gly733=) c.2184G>T (p.Gly728=) c.1791G>T (p.Gly597=) c.2253G>T (p.Gly751=) c.2187G>T (p.Gly729=) c.2145G>T (p.Gly715=) c.1218G>T (p.Gly406=)	gnomAD v4
20	g.63407061C>G	CA511339485	KCNQ2	c.2256G>C (p.Gly752=) c.2202G>C (p.Gly734=) c.1599G>C (p.Gly533=) c.2109G>C (p.Gly703=) c.1770G>C (p.Gly590=) c.2118G>C (p.Gly706=) c.2226G>C (p.Gly742=) c.2190G>C (p.Gly730=) c.2148G>C (p.Gly716=) c.1680-6218G>C (n.1680-6218G>C) c.2244G>C (p.Gly748=) c.2310G>C (p.Gly770=) c.2307G>C (p.Gly769=) c.2280G>C (p.Gly760=) c.2199G>C (p.Gly733=) c.2184G>C (p.Gly728=) c.1791G>C (p.Gly597=) c.2253G>C (p.Gly751=) c.2187G>C (p.Gly729=) c.2145G>C (p.Gly715=) c.1218G>C (p.Gly406=)
20	g.63407061C>T	CA511339486	KCNQ2	c.2256G>A (p.Gly752=) c.2202G>A (p.Gly734=) c.1599G>A (p.Gly533=) c.2109G>A (p.Gly703=) c.1770G>A (p.Gly590=) c.2118G>A (p.Gly706=) c.2226G>A (p.Gly742=) c.2190G>A (p.Gly730=) c.2148G>A (p.Gly716=) c.1680-6218G>A (n.1680-6218G>A) c.2244G>A (p.Gly748=) c.2310G>A (p.Gly770=) c.2307G>A (p.Gly769=) c.2280G>A (p.Gly760=) c.2199G>A (p.Gly733=) c.2184G>A (p.Gly728=) c.1791G>A (p.Gly597=) c.2253G>A (p.Gly751=) c.2187G>A (p.Gly729=) c.2145G>A (p.Gly715=) c.1218G>A (p.Gly406=)
20	g.63407062C>A	CA409638551	KCNQ2	c.2255G>T (p.Gly752Val) c.2201G>T (p.Gly734Val) c.1598G>T (p.Gly533Val) c.2108G>T (p.Gly703Val) c.1769G>T (p.Gly590Val) c.2117G>T (p.Gly706Val) c.2225G>T (p.Gly742Val) c.2189G>T (p.Gly730Val) c.2147G>T (p.Gly716Val) c.1680-6219G>T (n.1680-6219G>T) c.2243G>T (p.Gly748Val) c.2309G>T (p.Gly770Val) c.2306G>T (p.Gly769Val) c.2279G>T (p.Gly760Val) c.2198G>T (p.Gly733Val) c.2183G>T (p.Gly728Val) c.1790G>T (p.Gly597Val) c.2252G>T (p.Gly751Val) c.2186G>T (p.Gly729Val) c.2144G>T (p.Gly715Val) c.1217G>T (p.Gly406Val)	gnomAD v4
20	g.63407062C=	CA2374774397	KCNQ2	c.2255G= (p.Gly752=) c.2201G= (p.Gly734=) c.1598G= (p.Gly533=) c.2108G= (p.Gly703=) c.1769G= (p.Gly590=) c.2117G= (p.Gly706=) c.2225G= (p.Gly742=) c.2189G= (p.Gly730=) c.2147G= (p.Gly716=) c.1680-6219G= (n.1680-6219G=) c.2243G= (p.Gly748=) c.2309G= (p.Gly770=) c.2306G= (p.Gly769=) c.2279G= (p.Gly760=) c.2198G= (p.Gly733=) c.2183G= (p.Gly728=) c.1790G= (p.Gly597=) c.2252G= (p.Gly751=) c.2186G= (p.Gly729=) c.2144G= (p.Gly715=) c.1217G= (p.Gly406=)
20	g.63407062C>G	CA409638553	KCNQ2	c.2255G>C (p.Gly752Ala) c.2201G>C (p.Gly734Ala) c.1598G>C (p.Gly533Ala) c.2108G>C (p.Gly703Ala) c.1769G>C (p.Gly590Ala) c.2117G>C (p.Gly706Ala) c.2225G>C (p.Gly742Ala) c.2189G>C (p.Gly730Ala) c.2147G>C (p.Gly716Ala) c.1680-6219G>C (n.1680-6219G>C) c.2243G>C (p.Gly748Ala) c.2309G>C (p.Gly770Ala) c.2306G>C (p.Gly769Ala) c.2279G>C (p.Gly760Ala) c.2198G>C (p.Gly733Ala) c.2183G>C (p.Gly728Ala) c.1790G>C (p.Gly597Ala) c.2252G>C (p.Gly751Ala) c.2186G>C (p.Gly729Ala) c.2144G>C (p.Gly715Ala) c.1217G>C (p.Gly406Ala)
20	g.63407062C>T	CA409638556	KCNQ2	c.2255G>A (p.Gly752Glu) c.2201G>A (p.Gly734Glu) c.1598G>A (p.Gly533Glu) c.2108G>A (p.Gly703Glu) c.1769G>A (p.Gly590Glu) c.2117G>A (p.Gly706Glu) c.2225G>A (p.Gly742Glu) c.2189G>A (p.Gly730Glu) c.2147G>A (p.Gly716Glu) c.1680-6219G>A (n.1680-6219G>A) c.2243G>A (p.Gly748Glu) c.2309G>A (p.Gly770Glu) c.2306G>A (p.Gly769Glu) c.2279G>A (p.Gly760Glu) c.2198G>A (p.Gly733Glu) c.2183G>A (p.Gly728Glu) c.1790G>A (p.Gly597Glu) c.2252G>A (p.Gly751Glu) c.2186G>A (p.Gly729Glu) c.2144G>A (p.Gly715Glu) c.1217G>A (p.Gly406Glu)	dbSNP gnomAD v2 gnomAD v4
20	g.63407063C>A	CA409638565	KCNQ2	c.2254G>T (p.Gly752Trp) c.2200G>T (p.Gly734Trp) c.1597G>T (p.Gly533Trp) c.2107G>T (p.Gly703Trp) c.1768G>T (p.Gly590Trp) c.2116G>T (p.Gly706Trp) c.2224G>T (p.Gly742Trp) c.2188G>T (p.Gly730Trp) c.2146G>T (p.Gly716Trp) c.1680-6220G>T (n.1680-6220G>T) c.2242G>T (p.Gly748Trp) c.2308G>T (p.Gly770Trp) c.2305G>T (p.Gly769Trp) c.2278G>T (p.Gly760Trp) c.2197G>T (p.Gly733Trp) c.2182G>T (p.Gly728Trp) c.1789G>T (p.Gly597Trp) c.2251G>T (p.Gly751Trp) c.2185G>T (p.Gly729Trp) c.2143G>T (p.Gly715Trp) c.1216G>T (p.Gly406Trp)
20	g.63407063C=	CA2374774398	KCNQ2	c.2254G= (p.Gly752=) c.2200G= (p.Gly734=) c.1597G= (p.Gly533=) c.2107G= (p.Gly703=) c.1768G= (p.Gly590=) c.2116G= (p.Gly706=) c.2224G= (p.Gly742=) c.2188G= (p.Gly730=) c.2146G= (p.Gly716=) c.1680-6220G= (n.1680-6220G=) c.2242G= (p.Gly748=) c.2308G= (p.Gly770=) c.2305G= (p.Gly769=) c.2278G= (p.Gly760=) c.2197G= (p.Gly733=) c.2182G= (p.Gly728=) c.1789G= (p.Gly597=) c.2251G= (p.Gly751=) c.2185G= (p.Gly729=) c.2143G= (p.Gly715=) c.1216G= (p.Gly406=)
20	g.63407063C>G	CA409638562	KCNQ2	c.2254G>C (p.Gly752Arg) c.2200G>C (p.Gly734Arg) c.1597G>C (p.Gly533Arg) c.2107G>C (p.Gly703Arg) c.1768G>C (p.Gly590Arg) c.2116G>C (p.Gly706Arg) c.2224G>C (p.Gly742Arg) c.2188G>C (p.Gly730Arg) c.2146G>C (p.Gly716Arg) c.1680-6220G>C (n.1680-6220G>C) c.2242G>C (p.Gly748Arg) c.2308G>C (p.Gly770Arg) c.2305G>C (p.Gly769Arg) c.2278G>C (p.Gly760Arg) c.2197G>C (p.Gly733Arg) c.2182G>C (p.Gly728Arg) c.1789G>C (p.Gly597Arg) c.2251G>C (p.Gly751Arg) c.2185G>C (p.Gly729Arg) c.2143G>C (p.Gly715Arg) c.1216G>C (p.Gly406Arg)	dbSNP gnomAD v2
20	g.63407063C>T	CA409638559	KCNQ2	c.2254G>A (p.Gly752Arg) c.2200G>A (p.Gly734Arg) c.1597G>A (p.Gly533Arg) c.2107G>A (p.Gly703Arg) c.1768G>A (p.Gly590Arg) c.2116G>A (p.Gly706Arg) c.2224G>A (p.Gly742Arg) c.2188G>A (p.Gly730Arg) c.2146G>A (p.Gly716Arg) c.1680-6220G>A (n.1680-6220G>A) c.2242G>A (p.Gly748Arg) c.2308G>A (p.Gly770Arg) c.2305G>A (p.Gly769Arg) c.2278G>A (p.Gly760Arg) c.2197G>A (p.Gly733Arg) c.2182G>A (p.Gly728Arg) c.1789G>A (p.Gly597Arg) c.2251G>A (p.Gly751Arg) c.2185G>A (p.Gly729Arg) c.2143G>A (p.Gly715Arg) c.1216G>A (p.Gly406Arg)	ClinVar
20	g.63407064C>A	CA511339487	KCNQ2	c.2253G>T (p.Val751=) c.2199G>T (p.Val733=) c.1596G>T (p.Val532=) c.2106G>T (p.Val702=) c.1767G>T (p.Val589=) c.2115G>T (p.Val705=) c.2223G>T (p.Val741=) c.2187G>T (p.Val729=) c.2145G>T (p.Val715=) c.1680-6221G>T (n.1680-6221G>T) c.2241G>T (p.Val747=) c.2307G>T (p.Val769=) c.2304G>T (p.Val768=) c.2277G>T (p.Val759=) c.2196G>T (p.Val732=) c.2181G>T (p.Val727=) c.1788G>T (p.Val596=) c.2250G>T (p.Val750=) c.2184G>T (p.Val728=) c.2142G>T (p.Val714=) c.1215G>T (p.Val405=)	gnomAD v4
20	g.63407064C=	CA2374774399	KCNQ2	c.2253G= (p.Val751=) c.2199G= (p.Val733=) c.1596G= (p.Val532=) c.2106G= (p.Val702=) c.1767G= (p.Val589=) c.2115G= (p.Val705=) c.2223G= (p.Val741=) c.2187G= (p.Val729=) c.2145G= (p.Val715=) c.1680-6221G= (n.1680-6221G=) c.2241G= (p.Val747=) c.2307G= (p.Val769=) c.2304G= (p.Val768=) c.2277G= (p.Val759=) c.2196G= (p.Val732=) c.2181G= (p.Val727=) c.1788G= (p.Val596=) c.2250G= (p.Val750=) c.2184G= (p.Val728=) c.2142G= (p.Val714=) c.1215G= (p.Val405=)
20	g.63407064C>G	CA511339489	KCNQ2	c.2253G>C (p.Val751=) c.2199G>C (p.Val733=) c.1596G>C (p.Val532=) c.2106G>C (p.Val702=) c.1767G>C (p.Val589=) c.2115G>C (p.Val705=) c.2223G>C (p.Val741=) c.2187G>C (p.Val729=) c.2145G>C (p.Val715=) c.1680-6221G>C (n.1680-6221G>C) c.2241G>C (p.Val747=) c.2307G>C (p.Val769=) c.2304G>C (p.Val768=) c.2277G>C (p.Val759=) c.2196G>C (p.Val732=) c.2181G>C (p.Val727=) c.1788G>C (p.Val596=) c.2250G>C (p.Val750=) c.2184G>C (p.Val728=) c.2142G>C (p.Val714=) c.1215G>C (p.Val405=)	gnomAD v4
20	g.63407064C>T	CA511339488	KCNQ2	c.2253G>A (p.Val751=) c.2199G>A (p.Val733=) c.1596G>A (p.Val532=) c.2106G>A (p.Val702=) c.1767G>A (p.Val589=) c.2115G>A (p.Val705=) c.2223G>A (p.Val741=) c.2187G>A (p.Val729=) c.2145G>A (p.Val715=) c.1680-6221G>A (n.1680-6221G>A) c.2241G>A (p.Val747=) c.2307G>A (p.Val769=) c.2304G>A (p.Val768=) c.2277G>A (p.Val759=) c.2196G>A (p.Val732=) c.2181G>A (p.Val727=) c.1788G>A (p.Val596=) c.2250G>A (p.Val750=) c.2184G>A (p.Val728=) c.2142G>A (p.Val714=) c.1215G>A (p.Val405=)	dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20	g.63407065A>C	CA409638568	KCNQ2	c.2252T>G (p.Val751Gly) c.2198T>G (p.Val733Gly) c.1595T>G (p.Val532Gly) c.2105T>G (p.Val702Gly) c.1766T>G (p.Val589Gly) c.2114T>G (p.Val705Gly) c.2222T>G (p.Val741Gly) c.2186T>G (p.Val729Gly) c.2144T>G (p.Val715Gly) c.1680-6222T>G (n.1680-6222T>G) c.2240T>G (p.Val747Gly) c.2306T>G (p.Val769Gly) c.2303T>G (p.Val768Gly) c.2276T>G (p.Val759Gly) c.2195T>G (p.Val732Gly) c.2180T>G (p.Val727Gly) c.1787T>G (p.Val596Gly) c.2249T>G (p.Val750Gly) c.2183T>G (p.Val728Gly) c.2141T>G (p.Val714Gly) c.1214T>G (p.Val405Gly)
20	g.63407065A>G	CA409638571	KCNQ2	c.2252T>C (p.Val751Ala) c.2198T>C (p.Val733Ala) c.1595T>C (p.Val532Ala) c.2105T>C (p.Val702Ala) c.1766T>C (p.Val589Ala) c.2114T>C (p.Val705Ala) c.2222T>C (p.Val741Ala) c.2186T>C (p.Val729Ala) c.2144T>C (p.Val715Ala) c.1680-6222T>C (n.1680-6222T>C) c.2240T>C (p.Val747Ala) c.2306T>C (p.Val769Ala) c.2303T>C (p.Val768Ala) c.2276T>C (p.Val759Ala) c.2195T>C (p.Val732Ala) c.2180T>C (p.Val727Ala) c.1787T>C (p.Val596Ala) c.2249T>C (p.Val750Ala) c.2183T>C (p.Val728Ala) c.2141T>C (p.Val714Ala) c.1214T>C (p.Val405Ala)	ClinVar gnomAD v4
20	g.63407065A>T	CA409638574	KCNQ2	c.2252T>A (p.Val751Glu) c.2198T>A (p.Val733Glu) c.1595T>A (p.Val532Glu) c.2105T>A (p.Val702Glu) c.1766T>A (p.Val589Glu) c.2114T>A (p.Val705Glu) c.2222T>A (p.Val741Glu) c.2186T>A (p.Val729Glu) c.2144T>A (p.Val715Glu) c.1680-6222T>A (n.1680-6222T>A) c.2240T>A (p.Val747Glu) c.2306T>A (p.Val769Glu) c.2303T>A (p.Val768Glu) c.2276T>A (p.Val759Glu) c.2195T>A (p.Val732Glu) c.2180T>A (p.Val727Glu) c.1787T>A (p.Val596Glu) c.2249T>A (p.Val750Glu) c.2183T>A (p.Val728Glu) c.2141T>A (p.Val714Glu) c.1214T>A (p.Val405Glu)
20	g.63407066C>A	CA409638576	KCNQ2	c.2251G>T (p.Val751Leu) c.2197G>T (p.Val733Leu) c.1594G>T (p.Val532Leu) c.2104G>T (p.Val702Leu) c.1765G>T (p.Val589Leu) c.2113G>T (p.Val705Leu) c.2221G>T (p.Val741Leu) c.2185G>T (p.Val729Leu) c.2143G>T (p.Val715Leu) c.1680-6223G>T (n.1680-6223G>T) c.2239G>T (p.Val747Leu) c.2305G>T (p.Val769Leu) c.2302G>T (p.Val768Leu) c.2275G>T (p.Val759Leu) c.2194G>T (p.Val732Leu) c.2179G>T (p.Val727Leu) c.1786G>T (p.Val596Leu) c.2248G>T (p.Val750Leu) c.2182G>T (p.Val728Leu) c.2140G>T (p.Val714Leu) c.1213G>T (p.Val405Leu)	gnomAD v4
20	g.63407066C=	CA2374774400	KCNQ2	c.2251G= (p.Val751=) c.2197G= (p.Val733=) c.1594G= (p.Val532=) c.2104G= (p.Val702=) c.1765G= (p.Val589=) c.2113G= (p.Val705=) c.2221G= (p.Val741=) c.2185G= (p.Val729=) c.2143G= (p.Val715=) c.1680-6223G= (n.1680-6223G=) c.2239G= (p.Val747=) c.2305G= (p.Val769=) c.2302G= (p.Val768=) c.2275G= (p.Val759=) c.2194G= (p.Val732=) c.2179G= (p.Val727=) c.1786G= (p.Val596=) c.2248G= (p.Val750=) c.2182G= (p.Val728=) c.2140G= (p.Val714=) c.1213G= (p.Val405=)
20	g.63407066C>G	CA9958127	KCNQ2	c.2251G>C (p.Val751Leu) c.2197G>C (p.Val733Leu) c.1594G>C (p.Val532Leu) c.2104G>C (p.Val702Leu) c.1765G>C (p.Val589Leu) c.2113G>C (p.Val705Leu) c.2221G>C (p.Val741Leu) c.2185G>C (p.Val729Leu) c.2143G>C (p.Val715Leu) c.1680-6223G>C (n.1680-6223G>C) c.2239G>C (p.Val747Leu) c.2305G>C (p.Val769Leu) c.2302G>C (p.Val768Leu) c.2275G>C (p.Val759Leu) c.2194G>C (p.Val732Leu) c.2179G>C (p.Val727Leu) c.1786G>C (p.Val596Leu) c.2248G>C (p.Val750Leu) c.2182G>C (p.Val728Leu) c.2140G>C (p.Val714Leu) c.1213G>C (p.Val405Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.63407066C>T	CA9958128	KCNQ2	c.2251G>A (p.Val751Met) c.2197G>A (p.Val733Met) c.1594G>A (p.Val532Met) c.2104G>A (p.Val702Met) c.1765G>A (p.Val589Met) c.2113G>A (p.Val705Met) c.2221G>A (p.Val741Met) c.2185G>A (p.Val729Met) c.2143G>A (p.Val715Met) c.1680-6223G>A (n.1680-6223G>A) c.2239G>A (p.Val747Met) c.2305G>A (p.Val769Met) c.2302G>A (p.Val768Met) c.2275G>A (p.Val759Met) c.2194G>A (p.Val732Met) c.2179G>A (p.Val727Met) c.1786G>A (p.Val596Met) c.2248G>A (p.Val750Met) c.2182G>A (p.Val728Met) c.2140G>A (p.Val714Met) c.1213G>A (p.Val405Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20	g.63407067G>A	CA317422130	KCNQ2	c.2250C>T (p.Pro750=) c.2196C>T (p.Pro732=) c.1593C>T (p.Pro531=) c.2103C>T (p.Pro701=) c.1764C>T (p.Pro588=) c.2112C>T (p.Pro704=) c.2220C>T (p.Pro740=) c.2184C>T (p.Pro728=) c.2142C>T (p.Pro714=) c.1680-6224C>T (n.1680-6224C>T) c.2238C>T (p.Pro746=) c.2304C>T (p.Pro768=) c.2301C>T (p.Pro767=) c.2274C>T (p.Pro758=) c.2193C>T (p.Pro731=) c.2178C>T (p.Pro726=) c.1785C>T (p.Pro595=) c.2247C>T (p.Pro749=) c.2181C>T (p.Pro727=) c.2139C>T (p.Pro713=) c.1212C>T (p.Pro404=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20	g.63407067G>C	CA511339490	KCNQ2	c.2250C>G (p.Pro750=) c.2196C>G (p.Pro732=) c.1593C>G (p.Pro531=) c.2103C>G (p.Pro701=) c.1764C>G (p.Pro588=) c.2112C>G (p.Pro704=) c.2220C>G (p.Pro740=) c.2184C>G (p.Pro728=) c.2142C>G (p.Pro714=) c.1680-6224C>G (n.1680-6224C>G) c.2238C>G (p.Pro746=) c.2304C>G (p.Pro768=) c.2301C>G (p.Pro767=) c.2274C>G (p.Pro758=) c.2193C>G (p.Pro731=) c.2178C>G (p.Pro726=) c.1785C>G (p.Pro595=) c.2247C>G (p.Pro749=) c.2181C>G (p.Pro727=) c.2139C>G (p.Pro713=) c.1212C>G (p.Pro404=)
20	g.63407067G=	CA2374774401	KCNQ2	c.2250C= (p.Pro750=) c.2196C= (p.Pro732=) c.1593C= (p.Pro531=) c.2103C= (p.Pro701=) c.1764C= (p.Pro588=) c.2112C= (p.Pro704=) c.2220C= (p.Pro740=) c.2184C= (p.Pro728=) c.2142C= (p.Pro714=) c.1680-6224C= (n.1680-6224C=) c.2238C= (p.Pro746=) c.2304C= (p.Pro768=) c.2301C= (p.Pro767=) c.2274C= (p.Pro758=) c.2193C= (p.Pro731=) c.2178C= (p.Pro726=) c.1785C= (p.Pro595=) c.2247C= (p.Pro749=) c.2181C= (p.Pro727=) c.2139C= (p.Pro713=) c.1212C= (p.Pro404=)
20	g.63407067G>T	CA511339491	KCNQ2	c.2250C>A (p.Pro750=) c.2196C>A (p.Pro732=) c.1593C>A (p.Pro531=) c.2103C>A (p.Pro701=) c.1764C>A (p.Pro588=) c.2112C>A (p.Pro704=) c.2220C>A (p.Pro740=) c.2184C>A (p.Pro728=) c.2142C>A (p.Pro714=) c.1680-6224C>A (n.1680-6224C>A) c.2238C>A (p.Pro746=) c.2304C>A (p.Pro768=) c.2301C>A (p.Pro767=) c.2274C>A (p.Pro758=) c.2193C>A (p.Pro731=) c.2178C>A (p.Pro726=) c.1785C>A (p.Pro595=) c.2247C>A (p.Pro749=) c.2181C>A (p.Pro727=) c.2139C>A (p.Pro713=) c.1212C>A (p.Pro404=)	gnomAD v4
20	g.63407071del	CA2653805416	KCNQ2	c.2250del (p.Val751TrpfsTer?) c.2196del (p.Val733TrpfsTer?) c.1593del (p.Val532TrpfsTer?) c.2103del (p.Val702TrpfsTer?) c.1764del (p.Val589TrpfsTer?) c.2112del (p.Val705TrpfsTer?) c.2220del (p.Val741TrpfsTer?) c.2184del (p.Val729TrpfsTer?) c.2142del (p.Val715TrpfsTer?) c.1680-6224del (n.1680-6224del) c.2238del (p.Val747TrpfsTer?) c.2304del (p.Val769TrpfsTer?) c.2301del (p.Val768TrpfsTer?) c.2274del (p.Val759TrpfsTer?) c.2193del (p.Val732TrpfsTer?) c.2178del (p.Val727TrpfsTer?) c.1785del (p.Val596TrpfsTer?) c.2247del (p.Val750TrpfsTer?) c.2181del (p.Val728TrpfsTer?) c.2139del (p.Val714TrpfsTer?) c.1212del (p.Val405TrpfsTer?)	ClinVar gnomAD v4
20	g.63407068G>A	CA409638583	KCNQ2	c.2249C>T (p.Pro750Leu) c.2195C>T (p.Pro732Leu) c.1592C>T (p.Pro531Leu) c.2102C>T (p.Pro701Leu) c.1763C>T (p.Pro588Leu) c.2111C>T (p.Pro704Leu) c.2219C>T (p.Pro740Leu) c.2183C>T (p.Pro728Leu) c.2141C>T (p.Pro714Leu) c.1680-6225C>T (n.1680-6225C>T) c.2237C>T (p.Pro746Leu) c.2303C>T (p.Pro768Leu) c.2300C>T (p.Pro767Leu) c.2273C>T (p.Pro758Leu) c.2192C>T (p.Pro731Leu) c.2177C>T (p.Pro726Leu) c.1784C>T (p.Pro595Leu) c.2246C>T (p.Pro749Leu) c.2180C>T (p.Pro727Leu) c.2138C>T (p.Pro713Leu) c.1211C>T (p.Pro404Leu)	gnomAD v4
20	g.63407068G>C	CA409638586	KCNQ2	c.2249C>G (p.Pro750Arg) c.2195C>G (p.Pro732Arg) c.1592C>G (p.Pro531Arg) c.2102C>G (p.Pro701Arg) c.1763C>G (p.Pro588Arg) c.2111C>G (p.Pro704Arg) c.2219C>G (p.Pro740Arg) c.2183C>G (p.Pro728Arg) c.2141C>G (p.Pro714Arg) c.1680-6225C>G (n.1680-6225C>G) c.2237C>G (p.Pro746Arg) c.2303C>G (p.Pro768Arg) c.2300C>G (p.Pro767Arg) c.2273C>G (p.Pro758Arg) c.2192C>G (p.Pro731Arg) c.2177C>G (p.Pro726Arg) c.1784C>G (p.Pro595Arg) c.2246C>G (p.Pro749Arg) c.2180C>G (p.Pro727Arg) c.2138C>G (p.Pro713Arg) c.1211C>G (p.Pro404Arg)
20	g.63407068G>T	CA409638590	KCNQ2	c.2249C>A (p.Pro750His) c.2195C>A (p.Pro732His) c.1592C>A (p.Pro531His) c.2102C>A (p.Pro701His) c.1763C>A (p.Pro588His) c.2111C>A (p.Pro704His) c.2219C>A (p.Pro740His) c.2183C>A (p.Pro728His) c.2141C>A (p.Pro714His) c.1680-6225C>A (n.1680-6225C>A) c.2237C>A (p.Pro746His) c.2303C>A (p.Pro768His) c.2300C>A (p.Pro767His) c.2273C>A (p.Pro758His) c.2192C>A (p.Pro731His) c.2177C>A (p.Pro726His) c.1784C>A (p.Pro595His) c.2246C>A (p.Pro749His) c.2180C>A (p.Pro727His) c.2138C>A (p.Pro713His) c.1211C>A (p.Pro404His)	gnomAD v4
20	g.63407069G>A	CA9958129	KCNQ2	c.2248C>T (p.Pro750Ser) c.2194C>T (p.Pro732Ser) c.1591C>T (p.Pro531Ser) c.2101C>T (p.Pro701Ser) c.1762C>T (p.Pro588Ser) c.2110C>T (p.Pro704Ser) c.2218C>T (p.Pro740Ser) c.2182C>T (p.Pro728Ser) c.2140C>T (p.Pro714Ser) c.1680-6226C>T (n.1680-6226C>T) c.2236C>T (p.Pro746Ser) c.2302C>T (p.Pro768Ser) c.2299C>T (p.Pro767Ser) c.2272C>T (p.Pro758Ser) c.2191C>T (p.Pro731Ser) c.2176C>T (p.Pro726Ser) c.1783C>T (p.Pro595Ser) c.2245C>T (p.Pro749Ser) c.2179C>T (p.Pro727Ser) c.2137C>T (p.Pro713Ser) c.1210C>T (p.Pro404Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63407069G>C	CA409638596	KCNQ2	c.2248C>G (p.Pro750Ala) c.2194C>G (p.Pro732Ala) c.1591C>G (p.Pro531Ala) c.2101C>G (p.Pro701Ala) c.1762C>G (p.Pro588Ala) c.2110C>G (p.Pro704Ala) c.2218C>G (p.Pro740Ala) c.2182C>G (p.Pro728Ala) c.2140C>G (p.Pro714Ala) c.1680-6226C>G (n.1680-6226C>G) c.2236C>G (p.Pro746Ala) c.2302C>G (p.Pro768Ala) c.2299C>G (p.Pro767Ala) c.2272C>G (p.Pro758Ala) c.2191C>G (p.Pro731Ala) c.2176C>G (p.Pro726Ala) c.1783C>G (p.Pro595Ala) c.2245C>G (p.Pro749Ala) c.2179C>G (p.Pro727Ala) c.2137C>G (p.Pro713Ala) c.1210C>G (p.Pro404Ala)	gnomAD v4
20	g.63407069G=	CA2374774402	KCNQ2	c.2248C= (p.Pro750=) c.2194C= (p.Pro732=) c.1591C= (p.Pro531=) c.2101C= (p.Pro701=) c.1762C= (p.Pro588=) c.2110C= (p.Pro704=) c.2218C= (p.Pro740=) c.2182C= (p.Pro728=) c.2140C= (p.Pro714=) c.1680-6226C= (n.1680-6226C=) c.2236C= (p.Pro746=) c.2302C= (p.Pro768=) c.2299C= (p.Pro767=) c.2272C= (p.Pro758=) c.2191C= (p.Pro731=) c.2176C= (p.Pro726=) c.1783C= (p.Pro595=) c.2245C= (p.Pro749=) c.2179C= (p.Pro727=) c.2137C= (p.Pro713=) c.1210C= (p.Pro404=)
20	g.63407069G>T	CA9958130	KCNQ2	c.2248C>A (p.Pro750Thr) c.2194C>A (p.Pro732Thr) c.1591C>A (p.Pro531Thr) c.2101C>A (p.Pro701Thr) c.1762C>A (p.Pro588Thr) c.2110C>A (p.Pro704Thr) c.2218C>A (p.Pro740Thr) c.2182C>A (p.Pro728Thr) c.2140C>A (p.Pro714Thr) c.1680-6226C>A (n.1680-6226C>A) c.2236C>A (p.Pro746Thr) c.2302C>A (p.Pro768Thr) c.2299C>A (p.Pro767Thr) c.2272C>A (p.Pro758Thr) c.2191C>A (p.Pro731Thr) c.2176C>A (p.Pro726Thr) c.1783C>A (p.Pro595Thr) c.2245C>A (p.Pro749Thr) c.2179C>A (p.Pro727Thr) c.2137C>A (p.Pro713Thr) c.1210C>A (p.Pro404Thr)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.63407070G>A	CA511339492	KCNQ2	c.2247C>T (p.Ser749=) c.2193C>T (p.Ser731=) c.1590C>T (p.Ser530=) c.2100C>T (p.Ser700=) c.1761C>T (p.Ser587=) c.2109C>T (p.Ser703=) c.2217C>T (p.Ser739=) c.2181C>T (p.Ser727=) c.2139C>T (p.Ser713=) c.1680-6227C>T (n.1680-6227C>T) c.2235C>T (p.Ser745=) c.2301C>T (p.Ser767=) c.2298C>T (p.Ser766=) c.2271C>T (p.Ser757=) c.2190C>T (p.Ser730=) c.2175C>T (p.Ser725=) c.1782C>T (p.Ser594=) c.2244C>T (p.Ser748=) c.2178C>T (p.Ser726=) c.2136C>T (p.Ser712=) c.1209C>T (p.Ser403=)	dbSNP gnomAD v2 gnomAD v4
20	g.63407070G>C	CA511339493	KCNQ2	c.2247C>G (p.Ser749=) c.2193C>G (p.Ser731=) c.1590C>G (p.Ser530=) c.2100C>G (p.Ser700=) c.1761C>G (p.Ser587=) c.2109C>G (p.Ser703=) c.2217C>G (p.Ser739=) c.2181C>G (p.Ser727=) c.2139C>G (p.Ser713=) c.1680-6227C>G (n.1680-6227C>G) c.2235C>G (p.Ser745=) c.2301C>G (p.Ser767=) c.2298C>G (p.Ser766=) c.2271C>G (p.Ser757=) c.2190C>G (p.Ser730=) c.2175C>G (p.Ser725=) c.1782C>G (p.Ser594=) c.2244C>G (p.Ser748=) c.2178C>G (p.Ser726=) c.2136C>G (p.Ser712=) c.1209C>G (p.Ser403=)
20	g.63407070G=	CA2374774403	KCNQ2	c.2247C= (p.Ser749=) c.2193C= (p.Ser731=) c.1590C= (p.Ser530=) c.2100C= (p.Ser700=) c.1761C= (p.Ser587=) c.2109C= (p.Ser703=) c.2217C= (p.Ser739=) c.2181C= (p.Ser727=) c.2139C= (p.Ser713=) c.1680-6227C= (n.1680-6227C=) c.2235C= (p.Ser745=) c.2301C= (p.Ser767=) c.2298C= (p.Ser766=) c.2271C= (p.Ser757=) c.2190C= (p.Ser730=) c.2175C= (p.Ser725=) c.1782C= (p.Ser594=) c.2244C= (p.Ser748=) c.2178C= (p.Ser726=) c.2136C= (p.Ser712=) c.1209C= (p.Ser403=)
20	g.63407070G>T	CA511339494	KCNQ2	c.2247C>A (p.Ser749=) c.2193C>A (p.Ser731=) c.1590C>A (p.Ser530=) c.2100C>A (p.Ser700=) c.1761C>A (p.Ser587=) c.2109C>A (p.Ser703=) c.2217C>A (p.Ser739=) c.2181C>A (p.Ser727=) c.2139C>A (p.Ser713=) c.1680-6227C>A (n.1680-6227C>A) c.2235C>A (p.Ser745=) c.2301C>A (p.Ser767=) c.2298C>A (p.Ser766=) c.2271C>A (p.Ser757=) c.2190C>A (p.Ser730=) c.2175C>A (p.Ser725=) c.1782C>A (p.Ser594=) c.2244C>A (p.Ser748=) c.2178C>A (p.Ser726=) c.2136C>A (p.Ser712=) c.1209C>A (p.Ser403=)	gnomAD v4
20	g.63407071G>A	CA409638608	KCNQ2	c.2246C>T (p.Ser749Phe) c.2192C>T (p.Ser731Phe) c.1589C>T (p.Ser530Phe) c.2099C>T (p.Ser700Phe) c.1760C>T (p.Ser587Phe) c.2108C>T (p.Ser703Phe) c.2216C>T (p.Ser739Phe) c.2180C>T (p.Ser727Phe) c.2138C>T (p.Ser713Phe) c.1680-6228C>T (n.1680-6228C>T) c.2234C>T (p.Ser745Phe) c.2300C>T (p.Ser767Phe) c.2297C>T (p.Ser766Phe) c.2270C>T (p.Ser757Phe) c.2189C>T (p.Ser730Phe) c.2174C>T (p.Ser725Phe) c.1781C>T (p.Ser594Phe) c.2243C>T (p.Ser748Phe) c.2177C>T (p.Ser726Phe) c.2135C>T (p.Ser712Phe) c.1208C>T (p.Ser403Phe)
20	g.63407071G>C	CA409638602	KCNQ2	c.2246C>G (p.Ser749Cys) c.2192C>G (p.Ser731Cys) c.1589C>G (p.Ser530Cys) c.2099C>G (p.Ser700Cys) c.1760C>G (p.Ser587Cys) c.2108C>G (p.Ser703Cys) c.2216C>G (p.Ser739Cys) c.2180C>G (p.Ser727Cys) c.2138C>G (p.Ser713Cys) c.1680-6228C>G (n.1680-6228C>G) c.2234C>G (p.Ser745Cys) c.2300C>G (p.Ser767Cys) c.2297C>G (p.Ser766Cys) c.2270C>G (p.Ser757Cys) c.2189C>G (p.Ser730Cys) c.2174C>G (p.Ser725Cys) c.1781C>G (p.Ser594Cys) c.2243C>G (p.Ser748Cys) c.2177C>G (p.Ser726Cys) c.2135C>G (p.Ser712Cys) c.1208C>G (p.Ser403Cys)
20	g.63407071G>T	CA409638605	KCNQ2	c.2246C>A (p.Ser749Tyr) c.2192C>A (p.Ser731Tyr) c.1589C>A (p.Ser530Tyr) c.2099C>A (p.Ser700Tyr) c.1760C>A (p.Ser587Tyr) c.2108C>A (p.Ser703Tyr) c.2216C>A (p.Ser739Tyr) c.2180C>A (p.Ser727Tyr) c.2138C>A (p.Ser713Tyr) c.1680-6228C>A (n.1680-6228C>A) c.2234C>A (p.Ser745Tyr) c.2300C>A (p.Ser767Tyr) c.2297C>A (p.Ser766Tyr) c.2270C>A (p.Ser757Tyr) c.2189C>A (p.Ser730Tyr) c.2174C>A (p.Ser725Tyr) c.1781C>A (p.Ser594Tyr) c.2243C>A (p.Ser748Tyr) c.2177C>A (p.Ser726Tyr) c.2135C>A (p.Ser712Tyr) c.1208C>A (p.Ser403Tyr)	gnomAD v4
20	g.63407072A=	CA2374774404	KCNQ2	c.2245T= (p.Ser749=) c.2191T= (p.Ser731=) c.1588T= (p.Ser530=) c.2098T= (p.Ser700=) c.1759T= (p.Ser587=) c.2107T= (p.Ser703=) c.2215T= (p.Ser739=) c.2179T= (p.Ser727=) c.2137T= (p.Ser713=) c.1680-6229T= (n.1680-6229T=) c.2233T= (p.Ser745=) c.2299T= (p.Ser767=) c.2296T= (p.Ser766=) c.2269T= (p.Ser757=) c.2188T= (p.Ser730=) c.2173T= (p.Ser725=) c.1780T= (p.Ser594=) c.2242T= (p.Ser748=) c.2176T= (p.Ser726=) c.2134T= (p.Ser712=) c.1207T= (p.Ser403=)
20	g.63407072A>C	CA409638612	KCNQ2	c.2245T>G (p.Ser749Ala) c.2191T>G (p.Ser731Ala) c.1588T>G (p.Ser530Ala) c.2098T>G (p.Ser700Ala) c.1759T>G (p.Ser587Ala) c.2107T>G (p.Ser703Ala) c.2215T>G (p.Ser739Ala) c.2179T>G (p.Ser727Ala) c.2137T>G (p.Ser713Ala) c.1680-6229T>G (n.1680-6229T>G) c.2233T>G (p.Ser745Ala) c.2299T>G (p.Ser767Ala) c.2296T>G (p.Ser766Ala) c.2269T>G (p.Ser757Ala) c.2188T>G (p.Ser730Ala) c.2173T>G (p.Ser725Ala) c.1780T>G (p.Ser594Ala) c.2242T>G (p.Ser748Ala) c.2176T>G (p.Ser726Ala) c.2134T>G (p.Ser712Ala) c.1207T>G (p.Ser403Ala)	dbSNP gnomAD v3 gnomAD v4
20	g.63407072A>G	CA409638614	KCNQ2	c.2245T>C (p.Ser749Pro) c.2191T>C (p.Ser731Pro) c.1588T>C (p.Ser530Pro) c.2098T>C (p.Ser700Pro) c.1759T>C (p.Ser587Pro) c.2107T>C (p.Ser703Pro) c.2215T>C (p.Ser739Pro) c.2179T>C (p.Ser727Pro) c.2137T>C (p.Ser713Pro) c.1680-6229T>C (n.1680-6229T>C) c.2233T>C (p.Ser745Pro) c.2299T>C (p.Ser767Pro) c.2296T>C (p.Ser766Pro) c.2269T>C (p.Ser757Pro) c.2188T>C (p.Ser730Pro) c.2173T>C (p.Ser725Pro) c.1780T>C (p.Ser594Pro) c.2242T>C (p.Ser748Pro) c.2176T>C (p.Ser726Pro) c.2134T>C (p.Ser712Pro) c.1207T>C (p.Ser403Pro)	gnomAD v4
20	g.63407072A>T	CA409638616	KCNQ2	c.2245T>A (p.Ser749Thr) c.2191T>A (p.Ser731Thr) c.1588T>A (p.Ser530Thr) c.2098T>A (p.Ser700Thr) c.1759T>A (p.Ser587Thr) c.2107T>A (p.Ser703Thr) c.2215T>A (p.Ser739Thr) c.2179T>A (p.Ser727Thr) c.2137T>A (p.Ser713Thr) c.1680-6229T>A (n.1680-6229T>A) c.2233T>A (p.Ser745Thr) c.2299T>A (p.Ser767Thr) c.2296T>A (p.Ser766Thr) c.2269T>A (p.Ser757Thr) c.2188T>A (p.Ser730Thr) c.2173T>A (p.Ser725Thr) c.1780T>A (p.Ser594Thr) c.2242T>A (p.Ser748Thr) c.2176T>A (p.Ser726Thr) c.2134T>A (p.Ser712Thr) c.1207T>A (p.Ser403Thr)	gnomAD v4
20	g.63407073G>A	CA9958131	KCNQ2	c.2244C>T (p.Thr748=) c.2190C>T (p.Thr730=) c.1587C>T (p.Thr529=) c.2097C>T (p.Thr699=) c.1758C>T (p.Thr586=) c.2106C>T (p.Thr702=) c.2214C>T (p.Thr738=) c.2178C>T (p.Thr726=) c.2136C>T (p.Thr712=) c.1680-6230C>T (n.1680-6230C>T) c.2232C>T (p.Thr744=) c.2298C>T (p.Thr766=) c.2295C>T (p.Thr765=) c.2268C>T (p.Thr756=) c.2187C>T (p.Thr729=) c.2172C>T (p.Thr724=) c.1779C>T (p.Thr593=) c.2241C>T (p.Thr747=) c.2175C>T (p.Thr725=) c.2133C>T (p.Thr711=) c.1206C>T (p.Thr402=)	dbSNP ExAC gnomAD v2 gnomAD v4
20	g.63407073G>C	CA511339495	KCNQ2	c.2244C>G (p.Thr748=) c.2190C>G (p.Thr730=) c.1587C>G (p.Thr529=) c.2097C>G (p.Thr699=) c.1758C>G (p.Thr586=) c.2106C>G (p.Thr702=) c.2214C>G (p.Thr738=) c.2178C>G (p.Thr726=) c.2136C>G (p.Thr712=) c.1680-6230C>G (n.1680-6230C>G) c.2232C>G (p.Thr744=) c.2298C>G (p.Thr766=) c.2295C>G (p.Thr765=) c.2268C>G (p.Thr756=) c.2187C>G (p.Thr729=) c.2172C>G (p.Thr724=) c.1779C>G (p.Thr593=) c.2241C>G (p.Thr747=) c.2175C>G (p.Thr725=) c.2133C>G (p.Thr711=) c.1206C>G (p.Thr402=)
20	g.63407073G=	CA2374774405	KCNQ2	c.2244C= (p.Thr748=) c.2190C= (p.Thr730=) c.1587C= (p.Thr529=) c.2097C= (p.Thr699=) c.1758C= (p.Thr586=) c.2106C= (p.Thr702=) c.2214C= (p.Thr738=) c.2178C= (p.Thr726=) c.2136C= (p.Thr712=) c.1680-6230C= (n.1680-6230C=) c.2232C= (p.Thr744=) c.2298C= (p.Thr766=) c.2295C= (p.Thr765=) c.2268C= (p.Thr756=) c.2187C= (p.Thr729=) c.2172C= (p.Thr724=) c.1779C= (p.Thr593=) c.2241C= (p.Thr747=) c.2175C= (p.Thr725=) c.2133C= (p.Thr711=) c.1206C= (p.Thr402=)
20	g.63407073G>T	CA511339496	KCNQ2	c.2244C>A (p.Thr748=) c.2190C>A (p.Thr730=) c.1587C>A (p.Thr529=) c.2097C>A (p.Thr699=) c.1758C>A (p.Thr586=) c.2106C>A (p.Thr702=) c.2214C>A (p.Thr738=) c.2178C>A (p.Thr726=) c.2136C>A (p.Thr712=) c.1680-6230C>A (n.1680-6230C>A) c.2232C>A (p.Thr744=) c.2298C>A (p.Thr766=) c.2295C>A (p.Thr765=) c.2268C>A (p.Thr756=) c.2187C>A (p.Thr729=) c.2172C>A (p.Thr724=) c.1779C>A (p.Thr593=) c.2241C>A (p.Thr747=) c.2175C>A (p.Thr725=) c.2133C>A (p.Thr711=) c.1206C>A (p.Thr402=)	gnomAD v4
20	g.63407074G>A	CA409638623	KCNQ2	c.2243C>T (p.Thr748Ile) c.2189C>T (p.Thr730Ile) c.1586C>T (p.Thr529Ile) c.2096C>T (p.Thr699Ile) c.1757C>T (p.Thr586Ile) c.2105C>T (p.Thr702Ile) c.2213C>T (p.Thr738Ile) c.2177C>T (p.Thr726Ile) c.2135C>T (p.Thr712Ile) c.1680-6231C>T (n.1680-6231C>T) c.2231C>T (p.Thr744Ile) c.2297C>T (p.Thr766Ile) c.2294C>T (p.Thr765Ile) c.2267C>T (p.Thr756Ile) c.2186C>T (p.Thr729Ile) c.2171C>T (p.Thr724Ile) c.1778C>T (p.Thr593Ile) c.2240C>T (p.Thr747Ile) c.2174C>T (p.Thr725Ile) c.2132C>T (p.Thr711Ile) c.1205C>T (p.Thr402Ile)	gnomAD v4
20	g.63407074G>C	CA409638626	KCNQ2	c.2243C>G (p.Thr748Ser) c.2189C>G (p.Thr730Ser) c.1586C>G (p.Thr529Ser) c.2096C>G (p.Thr699Ser) c.1757C>G (p.Thr586Ser) c.2105C>G (p.Thr702Ser) c.2213C>G (p.Thr738Ser) c.2177C>G (p.Thr726Ser) c.2135C>G (p.Thr712Ser) c.1680-6231C>G (n.1680-6231C>G) c.2231C>G (p.Thr744Ser) c.2297C>G (p.Thr766Ser) c.2294C>G (p.Thr765Ser) c.2267C>G (p.Thr756Ser) c.2186C>G (p.Thr729Ser) c.2171C>G (p.Thr724Ser) c.1778C>G (p.Thr593Ser) c.2240C>G (p.Thr747Ser) c.2174C>G (p.Thr725Ser) c.2132C>G (p.Thr711Ser) c.1205C>G (p.Thr402Ser)
20	g.63407074G>T	CA409638630	KCNQ2	c.2243C>A (p.Thr748Asn) c.2189C>A (p.Thr730Asn) c.1586C>A (p.Thr529Asn) c.2096C>A (p.Thr699Asn) c.1757C>A (p.Thr586Asn) c.2105C>A (p.Thr702Asn) c.2213C>A (p.Thr738Asn) c.2177C>A (p.Thr726Asn) c.2135C>A (p.Thr712Asn) c.1680-6231C>A (n.1680-6231C>A) c.2231C>A (p.Thr744Asn) c.2297C>A (p.Thr766Asn) c.2294C>A (p.Thr765Asn) c.2267C>A (p.Thr756Asn) c.2186C>A (p.Thr729Asn) c.2171C>A (p.Thr724Asn) c.1778C>A (p.Thr593Asn) c.2240C>A (p.Thr747Asn) c.2174C>A (p.Thr725Asn) c.2132C>A (p.Thr711Asn) c.1205C>A (p.Thr402Asn)	gnomAD v4
20	g.63407075T>A	CA409638633	KCNQ2	c.2242A>T (p.Thr748Ser) c.2188A>T (p.Thr730Ser) c.1585A>T (p.Thr529Ser) c.2095A>T (p.Thr699Ser) c.1756A>T (p.Thr586Ser) c.2104A>T (p.Thr702Ser) c.2212A>T (p.Thr738Ser) c.2176A>T (p.Thr726Ser) c.2134A>T (p.Thr712Ser) c.1680-6232A>T (n.1680-6232A>T) c.2230A>T (p.Thr744Ser) c.2296A>T (p.Thr766Ser) c.2293A>T (p.Thr765Ser) c.2266A>T (p.Thr756Ser) c.2185A>T (p.Thr729Ser) c.2170A>T (p.Thr724Ser) c.1777A>T (p.Thr593Ser) c.2239A>T (p.Thr747Ser) c.2173A>T (p.Thr725Ser) c.2131A>T (p.Thr711Ser) c.1204A>T (p.Thr402Ser)
20	g.63407075T>C	CA409638636	KCNQ2	c.2242A>G (p.Thr748Ala) c.2188A>G (p.Thr730Ala) c.1585A>G (p.Thr529Ala) c.2095A>G (p.Thr699Ala) c.1756A>G (p.Thr586Ala) c.2104A>G (p.Thr702Ala) c.2212A>G (p.Thr738Ala) c.2176A>G (p.Thr726Ala) c.2134A>G (p.Thr712Ala) c.1680-6232A>G (n.1680-6232A>G) c.2230A>G (p.Thr744Ala) c.2296A>G (p.Thr766Ala) c.2293A>G (p.Thr765Ala) c.2266A>G (p.Thr756Ala) c.2185A>G (p.Thr729Ala) c.2170A>G (p.Thr724Ala) c.1777A>G (p.Thr593Ala) c.2239A>G (p.Thr747Ala) c.2173A>G (p.Thr725Ala) c.2131A>G (p.Thr711Ala) c.1204A>G (p.Thr402Ala)	ClinVar dbSNP gnomAD v3 gnomAD v4
20	g.63407075T>G	CA409638639	KCNQ2	c.2242A>C (p.Thr748Pro) c.2188A>C (p.Thr730Pro) c.1585A>C (p.Thr529Pro) c.2095A>C (p.Thr699Pro) c.1756A>C (p.Thr586Pro) c.2104A>C (p.Thr702Pro) c.2212A>C (p.Thr738Pro) c.2176A>C (p.Thr726Pro) c.2134A>C (p.Thr712Pro) c.1680-6232A>C (n.1680-6232A>C) c.2230A>C (p.Thr744Pro) c.2296A>C (p.Thr766Pro) c.2293A>C (p.Thr765Pro) c.2266A>C (p.Thr756Pro) c.2185A>C (p.Thr729Pro) c.2170A>C (p.Thr724Pro) c.1777A>C (p.Thr593Pro) c.2239A>C (p.Thr747Pro) c.2173A>C (p.Thr725Pro) c.2131A>C (p.Thr711Pro) c.1204A>C (p.Thr402Pro)
20	g.63407075T=	CA2374774406	KCNQ2	c.2242A= (p.Thr748=) c.2188A= (p.Thr730=) c.1585A= (p.Thr529=) c.2095A= (p.Thr699=) c.1756A= (p.Thr586=) c.2104A= (p.Thr702=) c.2212A= (p.Thr738=) c.2176A= (p.Thr726=) c.2134A= (p.Thr712=) c.1680-6232A= (n.1680-6232A=) c.2230A= (p.Thr744=) c.2296A= (p.Thr766=) c.2293A= (p.Thr765=) c.2266A= (p.Thr756=) c.2185A= (p.Thr729=) c.2170A= (p.Thr724=) c.1777A= (p.Thr593=) c.2239A= (p.Thr747=) c.2173A= (p.Thr725=) c.2131A= (p.Thr711=) c.1204A= (p.Thr402=)
20	g.63407076G>A	CA511339497	KCNQ2	c.2241C>T (p.Gly747=) c.2187C>T (p.Gly729=) c.1584C>T (p.Gly528=) c.2094C>T (p.Gly698=) c.1755C>T (p.Gly585=) c.2103C>T (p.Gly701=) c.2211C>T (p.Gly737=) c.2175C>T (p.Gly725=) c.2133C>T (p.Gly711=) c.1680-6233C>T (n.1680-6233C>T) c.2229C>T (p.Gly743=) c.2295C>T (p.Gly765=) c.2292C>T (p.Gly764=) c.2265C>T (p.Gly755=) c.2184C>T (p.Gly728=) c.2169C>T (p.Gly723=) c.1776C>T (p.Gly592=) c.2238C>T (p.Gly746=) c.2172C>T (p.Gly724=) c.2130C>T (p.Gly710=) c.1203C>T (p.Gly401=)	gnomAD v4
20	g.63407076G>C	CA511339499	KCNQ2	c.2241C>G (p.Gly747=) c.2187C>G (p.Gly729=) c.1584C>G (p.Gly528=) c.2094C>G (p.Gly698=) c.1755C>G (p.Gly585=) c.2103C>G (p.Gly701=) c.2211C>G (p.Gly737=) c.2175C>G (p.Gly725=) c.2133C>G (p.Gly711=) c.1680-6233C>G (n.1680-6233C>G) c.2229C>G (p.Gly743=) c.2295C>G (p.Gly765=) c.2292C>G (p.Gly764=) c.2265C>G (p.Gly755=) c.2184C>G (p.Gly728=) c.2169C>G (p.Gly723=) c.1776C>G (p.Gly592=) c.2238C>G (p.Gly746=) c.2172C>G (p.Gly724=) c.2130C>G (p.Gly710=) c.1203C>G (p.Gly401=)
20	g.63407076G>T	CA511339498	KCNQ2	c.2241C>A (p.Gly747=) c.2187C>A (p.Gly729=) c.1584C>A (p.Gly528=) c.2094C>A (p.Gly698=) c.1755C>A (p.Gly585=) c.2103C>A (p.Gly701=) c.2211C>A (p.Gly737=) c.2175C>A (p.Gly725=) c.2133C>A (p.Gly711=) c.1680-6233C>A (n.1680-6233C>A) c.2229C>A (p.Gly743=) c.2295C>A (p.Gly765=) c.2292C>A (p.Gly764=) c.2265C>A (p.Gly755=) c.2184C>A (p.Gly728=) c.2169C>A (p.Gly723=) c.1776C>A (p.Gly592=) c.2238C>A (p.Gly746=) c.2172C>A (p.Gly724=) c.2130C>A (p.Gly710=) c.1203C>A (p.Gly401=)	gnomAD v4
20	g.63407077C>A	CA409638642	KCNQ2	c.2240G>T (p.Gly747Val) c.2186G>T (p.Gly729Val) c.1583G>T (p.Gly528Val) c.2093G>T (p.Gly698Val) c.1754G>T (p.Gly585Val) c.2102G>T (p.Gly701Val) c.2210G>T (p.Gly737Val) c.2174G>T (p.Gly725Val) c.2132G>T (p.Gly711Val) c.1680-6234G>T (n.1680-6234G>T) c.2228G>T (p.Gly743Val) c.2294G>T (p.Gly765Val) c.2291G>T (p.Gly764Val) c.2264G>T (p.Gly755Val) c.2183G>T (p.Gly728Val) c.2168G>T (p.Gly723Val) c.1775G>T (p.Gly592Val) c.2237G>T (p.Gly746Val) c.2171G>T (p.Gly724Val) c.2129G>T (p.Gly710Val) c.1202G>T (p.Gly401Val)	gnomAD v4
20	g.63407077C>G	CA409638644	KCNQ2	c.2240G>C (p.Gly747Ala) c.2186G>C (p.Gly729Ala) c.1583G>C (p.Gly528Ala) c.2093G>C (p.Gly698Ala) c.1754G>C (p.Gly585Ala) c.2102G>C (p.Gly701Ala) c.2210G>C (p.Gly737Ala) c.2174G>C (p.Gly725Ala) c.2132G>C (p.Gly711Ala) c.1680-6234G>C (n.1680-6234G>C) c.2228G>C (p.Gly743Ala) c.2294G>C (p.Gly765Ala) c.2291G>C (p.Gly764Ala) c.2264G>C (p.Gly755Ala) c.2183G>C (p.Gly728Ala) c.2168G>C (p.Gly723Ala) c.1775G>C (p.Gly592Ala) c.2237G>C (p.Gly746Ala) c.2171G>C (p.Gly724Ala) c.2129G>C (p.Gly710Ala) c.1202G>C (p.Gly401Ala)
20	g.63407077C>T	CA409638647	KCNQ2	c.2240G>A (p.Gly747Asp) c.2186G>A (p.Gly729Asp) c.1583G>A (p.Gly528Asp) c.2093G>A (p.Gly698Asp) c.1754G>A (p.Gly585Asp) c.2102G>A (p.Gly701Asp) c.2210G>A (p.Gly737Asp) c.2174G>A (p.Gly725Asp) c.2132G>A (p.Gly711Asp) c.1680-6234G>A (n.1680-6234G>A) c.2228G>A (p.Gly743Asp) c.2294G>A (p.Gly765Asp) c.2291G>A (p.Gly764Asp) c.2264G>A (p.Gly755Asp) c.2183G>A (p.Gly728Asp) c.2168G>A (p.Gly723Asp) c.1775G>A (p.Gly592Asp) c.2237G>A (p.Gly746Asp) c.2171G>A (p.Gly724Asp) c.2129G>A (p.Gly710Asp) c.1202G>A (p.Gly401Asp)	gnomAD v4
20	g.63407078C>A	CA409638655	KCNQ2	c.2239G>T (p.Gly747Cys) c.2185G>T (p.Gly729Cys) c.1582G>T (p.Gly528Cys) c.2092G>T (p.Gly698Cys) c.1753G>T (p.Gly585Cys) c.2101G>T (p.Gly701Cys) c.2209G>T (p.Gly737Cys) c.2173G>T (p.Gly725Cys) c.2131G>T (p.Gly711Cys) c.1680-6235G>T (n.1680-6235G>T) c.2227G>T (p.Gly743Cys) c.2293G>T (p.Gly765Cys) c.2290G>T (p.Gly764Cys) c.2263G>T (p.Gly755Cys) c.2182G>T (p.Gly728Cys) c.2167G>T (p.Gly723Cys) c.1774G>T (p.Gly592Cys) c.2236G>T (p.Gly746Cys) c.2170G>T (p.Gly724Cys) c.2128G>T (p.Gly710Cys) c.1201G>T (p.Gly401Cys)	gnomAD v4
20	g.63407078C=	CA2374774407	KCNQ2	c.2239G= (p.Gly747=) c.2185G= (p.Gly729=) c.1582G= (p.Gly528=) c.2092G= (p.Gly698=) c.1753G= (p.Gly585=) c.2101G= (p.Gly701=) c.2209G= (p.Gly737=) c.2173G= (p.Gly725=) c.2131G= (p.Gly711=) c.1680-6235G= (n.1680-6235G=) c.2227G= (p.Gly743=) c.2293G= (p.Gly765=) c.2290G= (p.Gly764=) c.2263G= (p.Gly755=) c.2182G= (p.Gly728=) c.2167G= (p.Gly723=) c.1774G= (p.Gly592=) c.2236G= (p.Gly746=) c.2170G= (p.Gly724=) c.2128G= (p.Gly710=) c.1201G= (p.Gly401=)
20	g.63407078C>G	CA409638652	KCNQ2	c.2239G>C (p.Gly747Arg) c.2185G>C (p.Gly729Arg) c.1582G>C (p.Gly528Arg) c.2092G>C (p.Gly698Arg) c.1753G>C (p.Gly585Arg) c.2101G>C (p.Gly701Arg) c.2209G>C (p.Gly737Arg) c.2173G>C (p.Gly725Arg) c.2131G>C (p.Gly711Arg) c.1680-6235G>C (n.1680-6235G>C) c.2227G>C (p.Gly743Arg) c.2293G>C (p.Gly765Arg) c.2290G>C (p.Gly764Arg) c.2263G>C (p.Gly755Arg) c.2182G>C (p.Gly728Arg) c.2167G>C (p.Gly723Arg) c.1774G>C (p.Gly592Arg) c.2236G>C (p.Gly746Arg) c.2170G>C (p.Gly724Arg) c.2128G>C (p.Gly710Arg) c.1201G>C (p.Gly401Arg)
20	g.63407078C>T	CA317422158	KCNQ2	c.2239G>A (p.Gly747Ser) c.2185G>A (p.Gly729Ser) c.1582G>A (p.Gly528Ser) c.2092G>A (p.Gly698Ser) c.1753G>A (p.Gly585Ser) c.2101G>A (p.Gly701Ser) c.2209G>A (p.Gly737Ser) c.2173G>A (p.Gly725Ser) c.2131G>A (p.Gly711Ser) c.1680-6235G>A (n.1680-6235G>A) c.2227G>A (p.Gly743Ser) c.2293G>A (p.Gly765Ser) c.2290G>A (p.Gly764Ser) c.2263G>A (p.Gly755Ser) c.2182G>A (p.Gly728Ser) c.2167G>A (p.Gly723Ser) c.1774G>A (p.Gly592Ser) c.2236G>A (p.Gly746Ser) c.2170G>A (p.Gly724Ser) c.2128G>A (p.Gly710Ser) c.1201G>A (p.Gly401Ser)	ClinVar dbSNP gnomAD v2 gnomAD v4
20	g.63407079G>A	CA9958132	KCNQ2	c.2238C>T (p.His746=) c.2184C>T (p.His728=) c.1581C>T (p.His527=) c.2091C>T (p.His697=) c.1752C>T (p.His584=) c.2100C>T (p.His700=) c.2208C>T (p.His736=) c.2172C>T (p.His724=) c.2130C>T (p.His710=) c.1680-6236C>T (n.1680-6236C>T) c.2226C>T (p.His742=) c.2292C>T (p.His764=) c.2289C>T (p.His763=) c.2262C>T (p.His754=) c.2181C>T (p.His727=) c.2166C>T (p.His722=) c.1773C>T (p.His591=) c.2235C>T (p.His745=) c.2169C>T (p.His723=) c.2127C>T (p.His709=) c.1200C>T (p.His400=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20	g.63407079G>C	CA409638665	KCNQ2	c.2238C>G (p.His746Gln) c.2184C>G (p.His728Gln) c.1581C>G (p.His527Gln) c.2091C>G (p.His697Gln) c.1752C>G (p.His584Gln) c.2100C>G (p.His700Gln) c.2208C>G (p.His736Gln) c.2172C>G (p.His724Gln) c.2130C>G (p.His710Gln) c.1680-6236C>G (n.1680-6236C>G) c.2226C>G (p.His742Gln) c.2292C>G (p.His764Gln) c.2289C>G (p.His763Gln) c.2262C>G (p.His754Gln) c.2181C>G (p.His727Gln) c.2166C>G (p.His722Gln) c.1773C>G (p.His591Gln) c.2235C>G (p.His745Gln) c.2169C>G (p.His723Gln) c.2127C>G (p.His709Gln) c.1200C>G (p.His400Gln)	gnomAD v2 gnomAD v4
20	g.63407079G=	CA2374774408	KCNQ2	c.2238C= (p.His746=) c.2184C= (p.His728=) c.1581C= (p.His527=) c.2091C= (p.His697=) c.1752C= (p.His584=) c.2100C= (p.His700=) c.2208C= (p.His736=) c.2172C= (p.His724=) c.2130C= (p.His710=) c.1680-6236C= (n.1680-6236C=) c.2226C= (p.His742=) c.2292C= (p.His764=) c.2289C= (p.His763=) c.2262C= (p.His754=) c.2181C= (p.His727=) c.2166C= (p.His722=) c.1773C= (p.His591=) c.2235C= (p.His745=) c.2169C= (p.His723=) c.2127C= (p.His709=) c.1200C= (p.His400=)
20	g.63407079G>T	CA409638662	KCNQ2	c.2238C>A (p.His746Gln) c.2184C>A (p.His728Gln) c.1581C>A (p.His527Gln) c.2091C>A (p.His697Gln) c.1752C>A (p.His584Gln) c.2100C>A (p.His700Gln) c.2208C>A (p.His736Gln) c.2172C>A (p.His724Gln) c.2130C>A (p.His710Gln) c.1680-6236C>A (n.1680-6236C>A) c.2226C>A (p.His742Gln) c.2292C>A (p.His764Gln) c.2289C>A (p.His763Gln) c.2262C>A (p.His754Gln) c.2181C>A (p.His727Gln) c.2166C>A (p.His722Gln) c.1773C>A (p.His591Gln) c.2235C>A (p.His745Gln) c.2169C>A (p.His723Gln) c.2127C>A (p.His709Gln) c.1200C>A (p.His400Gln)	gnomAD v4
20	g.63407080T>A	CA409638668	KCNQ2	c.2237A>T (p.His746Leu) c.2183A>T (p.His728Leu) c.1580A>T (p.His527Leu) c.2090A>T (p.His697Leu) c.1751A>T (p.His584Leu) c.2099A>T (p.His700Leu) c.2207A>T (p.His736Leu) c.2171A>T (p.His724Leu) c.2129A>T (p.His710Leu) c.1680-6237A>T (n.1680-6237A>T) c.2225A>T (p.His742Leu) c.2291A>T (p.His764Leu) c.2288A>T (p.His763Leu) c.2261A>T (p.His754Leu) c.2180A>T (p.His727Leu) c.2165A>T (p.His722Leu) c.1772A>T (p.His591Leu) c.2234A>T (p.His745Leu) c.2168A>T (p.His723Leu) c.2126A>T (p.His709Leu) c.1199A>T (p.His400Leu)
20	g.63407080T>C	CA409638673	KCNQ2	c.2237A>G (p.His746Arg) c.2183A>G (p.His728Arg) c.1580A>G (p.His527Arg) c.2090A>G (p.His697Arg) c.1751A>G (p.His584Arg) c.2099A>G (p.His700Arg) c.2207A>G (p.His736Arg) c.2171A>G (p.His724Arg) c.2129A>G (p.His710Arg) c.1680-6237A>G (n.1680-6237A>G) c.2225A>G (p.His742Arg) c.2291A>G (p.His764Arg) c.2288A>G (p.His763Arg) c.2261A>G (p.His754Arg) c.2180A>G (p.His727Arg) c.2165A>G (p.His722Arg) c.1772A>G (p.His591Arg) c.2234A>G (p.His745Arg) c.2168A>G (p.His723Arg) c.2126A>G (p.His709Arg) c.1199A>G (p.His400Arg)
20	g.63407080T>G	CA409638671	KCNQ2	c.2237A>C (p.His746Pro) c.2183A>C (p.His728Pro) c.1580A>C (p.His527Pro) c.2090A>C (p.His697Pro) c.1751A>C (p.His584Pro) c.2099A>C (p.His700Pro) c.2207A>C (p.His736Pro) c.2171A>C (p.His724Pro) c.2129A>C (p.His710Pro) c.1680-6237A>C (n.1680-6237A>C) c.2225A>C (p.His742Pro) c.2291A>C (p.His764Pro) c.2288A>C (p.His763Pro) c.2261A>C (p.His754Pro) c.2180A>C (p.His727Pro) c.2165A>C (p.His722Pro) c.1772A>C (p.His591Pro) c.2234A>C (p.His745Pro) c.2168A>C (p.His723Pro) c.2126A>C (p.His709Pro) c.1199A>C (p.His400Pro)
20	g.63407081G>A	CA409638675	KCNQ2	c.2236C>T (p.His746Tyr) c.2182C>T (p.His728Tyr) c.1579C>T (p.His527Tyr) c.2089C>T (p.His697Tyr) c.1750C>T (p.His584Tyr) c.2098C>T (p.His700Tyr) c.2206C>T (p.His736Tyr) c.2170C>T (p.His724Tyr) c.2128C>T (p.His710Tyr) c.1680-6238C>T (n.1680-6238C>T) c.2224C>T (p.His742Tyr) c.2290C>T (p.His764Tyr) c.2287C>T (p.His763Tyr) c.2260C>T (p.His754Tyr) c.2179C>T (p.His727Tyr) c.2164C>T (p.His722Tyr) c.1771C>T (p.His591Tyr) c.2233C>T (p.His745Tyr) c.2167C>T (p.His723Tyr) c.2125C>T (p.His709Tyr) c.1198C>T (p.His400Tyr)
20	g.63407081G>C	CA409638678	KCNQ2	c.2236C>G (p.His746Asp) c.2182C>G (p.His728Asp) c.1579C>G (p.His527Asp) c.2089C>G (p.His697Asp) c.1750C>G (p.His584Asp) c.2098C>G (p.His700Asp) c.2206C>G (p.His736Asp) c.2170C>G (p.His724Asp) c.2128C>G (p.His710Asp) c.1680-6238C>G (n.1680-6238C>G) c.2224C>G (p.His742Asp) c.2290C>G (p.His764Asp) c.2287C>G (p.His763Asp) c.2260C>G (p.His754Asp) c.2179C>G (p.His727Asp) c.2164C>G (p.His722Asp) c.1771C>G (p.His591Asp) c.2233C>G (p.His745Asp) c.2167C>G (p.His723Asp) c.2125C>G (p.His709Asp) c.1198C>G (p.His400Asp)
20	g.63407081G>T	CA409638681	KCNQ2	c.2236C>A (p.His746Asn) c.2182C>A (p.His728Asn) c.1579C>A (p.His527Asn) c.2089C>A (p.His697Asn) c.1750C>A (p.His584Asn) c.2098C>A (p.His700Asn) c.2206C>A (p.His736Asn) c.2170C>A (p.His724Asn) c.2128C>A (p.His710Asn) c.1680-6238C>A (n.1680-6238C>A) c.2224C>A (p.His742Asn) c.2290C>A (p.His764Asn) c.2287C>A (p.His763Asn) c.2260C>A (p.His754Asn) c.2179C>A (p.His727Asn) c.2164C>A (p.His722Asn) c.1771C>A (p.His591Asn) c.2233C>A (p.His745Asn) c.2167C>A (p.His723Asn) c.2125C>A (p.His709Asn) c.1198C>A (p.His400Asn)	gnomAD v4

Number of alleles fetched