Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.63406767G>ACA511339253KCNQ2c.2550C>T (p.Pro850=)
c.2496C>T (p.Pro832=)
c.1893C>T (p.Pro631=)
c.2403C>T (p.Pro801=)
c.2064C>T (p.Pro688=)
c.2412C>T (p.Pro804=)
c.2241+279C>T (n.2241+279C>T)
c.2205+279C>T (n.2205+279C>T)
c.2442C>T (p.Pro814=)
c.2133+279C>T (n.2133+279C>T)
c.1680-5924C>T (n.1680-5924C>T)
c.2538C>T (p.Pro846=)
c.2604C>T (p.Pro868=)
c.2601C>T (p.Pro867=)
c.2574C>T (p.Pro858=)
c.2520C>T (p.Pro840=)
c.2493C>T (p.Pro831=)
c.2478C>T (p.Pro826=)
c.2085C>T (p.Pro695=)
c.2547C>T (p.Pro849=)
c.2484C>T (p.Pro828=)
c.2481C>T (p.Pro827=)
c.2439C>T (p.Pro813=)
c.1512C>T (p.Pro504=)
 dbSNP gnomAD v2
20g.63406767G>CCA511339254KCNQ2c.2550C>G (p.Pro850=)
c.2496C>G (p.Pro832=)
c.1893C>G (p.Pro631=)
c.2403C>G (p.Pro801=)
c.2064C>G (p.Pro688=)
c.2412C>G (p.Pro804=)
c.2241+279C>G (n.2241+279C>G)
c.2205+279C>G (n.2205+279C>G)
c.2442C>G (p.Pro814=)
c.2133+279C>G (n.2133+279C>G)
c.1680-5924C>G (n.1680-5924C>G)
c.2538C>G (p.Pro846=)
c.2604C>G (p.Pro868=)
c.2601C>G (p.Pro867=)
c.2574C>G (p.Pro858=)
c.2520C>G (p.Pro840=)
c.2493C>G (p.Pro831=)
c.2478C>G (p.Pro826=)
c.2085C>G (p.Pro695=)
c.2547C>G (p.Pro849=)
c.2484C>G (p.Pro828=)
c.2481C>G (p.Pro827=)
c.2439C>G (p.Pro813=)
c.1512C>G (p.Pro504=)
 COSMIC COSMIC COSMIC
20g.63406767G=CA2374774237KCNQ2c.2550C= (p.Pro850=)
c.2496C= (p.Pro832=)
c.1893C= (p.Pro631=)
c.2403C= (p.Pro801=)
c.2064C= (p.Pro688=)
c.2412C= (p.Pro804=)
c.2241+279C= (n.2241+279C=)
c.2205+279C= (n.2205+279C=)
c.2442C= (p.Pro814=)
c.2133+279C= (n.2133+279C=)
c.1680-5924C= (n.1680-5924C=)
c.2538C= (p.Pro846=)
c.2604C= (p.Pro868=)
c.2601C= (p.Pro867=)
c.2574C= (p.Pro858=)
c.2520C= (p.Pro840=)
c.2493C= (p.Pro831=)
c.2478C= (p.Pro826=)
c.2085C= (p.Pro695=)
c.2547C= (p.Pro849=)
c.2484C= (p.Pro828=)
c.2481C= (p.Pro827=)
c.2439C= (p.Pro813=)
c.1512C= (p.Pro504=)
20g.63406767G>TCA511339256KCNQ2c.2550C>A (p.Pro850=)
c.2496C>A (p.Pro832=)
c.1893C>A (p.Pro631=)
c.2403C>A (p.Pro801=)
c.2064C>A (p.Pro688=)
c.2412C>A (p.Pro804=)
c.2241+279C>A (n.2241+279C>A)
c.2205+279C>A (n.2205+279C>A)
c.2442C>A (p.Pro814=)
c.2133+279C>A (n.2133+279C>A)
c.1680-5924C>A (n.1680-5924C>A)
c.2538C>A (p.Pro846=)
c.2604C>A (p.Pro868=)
c.2601C>A (p.Pro867=)
c.2574C>A (p.Pro858=)
c.2520C>A (p.Pro840=)
c.2493C>A (p.Pro831=)
c.2478C>A (p.Pro826=)
c.2085C>A (p.Pro695=)
c.2547C>A (p.Pro849=)
c.2484C>A (p.Pro828=)
c.2481C>A (p.Pro827=)
c.2439C>A (p.Pro813=)
c.1512C>A (p.Pro504=)
20g.63406768G>ACA409636830KCNQ2c.2549C>T (p.Pro850Leu)
c.2495C>T (p.Pro832Leu)
c.1892C>T (p.Pro631Leu)
c.2402C>T (p.Pro801Leu)
c.2063C>T (p.Pro688Leu)
c.2411C>T (p.Pro804Leu)
c.2241+278C>T (n.2241+278C>T)
c.2205+278C>T (n.2205+278C>T)
c.2441C>T (p.Pro814Leu)
c.2133+278C>T (n.2133+278C>T)
c.1680-5925C>T (n.1680-5925C>T)
c.2537C>T (p.Pro846Leu)
c.2603C>T (p.Pro868Leu)
c.2600C>T (p.Pro867Leu)
c.2573C>T (p.Pro858Leu)
c.2519C>T (p.Pro840Leu)
c.2492C>T (p.Pro831Leu)
c.2477C>T (p.Pro826Leu)
c.2084C>T (p.Pro695Leu)
c.2546C>T (p.Pro849Leu)
c.2483C>T (p.Pro828Leu)
c.2480C>T (p.Pro827Leu)
c.2438C>T (p.Pro813Leu)
c.1511C>T (p.Pro504Leu)
 dbSNP gnomAD v2 gnomAD v4
20g.63406768G>CCA409636832KCNQ2c.2549C>G (p.Pro850Arg)
c.2495C>G (p.Pro832Arg)
c.1892C>G (p.Pro631Arg)
c.2402C>G (p.Pro801Arg)
c.2063C>G (p.Pro688Arg)
c.2411C>G (p.Pro804Arg)
c.2241+278C>G (n.2241+278C>G)
c.2205+278C>G (n.2205+278C>G)
c.2441C>G (p.Pro814Arg)
c.2133+278C>G (n.2133+278C>G)
c.1680-5925C>G (n.1680-5925C>G)
c.2537C>G (p.Pro846Arg)
c.2603C>G (p.Pro868Arg)
c.2600C>G (p.Pro867Arg)
c.2573C>G (p.Pro858Arg)
c.2519C>G (p.Pro840Arg)
c.2492C>G (p.Pro831Arg)
c.2477C>G (p.Pro826Arg)
c.2084C>G (p.Pro695Arg)
c.2546C>G (p.Pro849Arg)
c.2483C>G (p.Pro828Arg)
c.2480C>G (p.Pro827Arg)
c.2438C>G (p.Pro813Arg)
c.1511C>G (p.Pro504Arg)
20g.63406768G=CA2374774238KCNQ2c.2549C= (p.Pro850=)
c.2495C= (p.Pro832=)
c.1892C= (p.Pro631=)
c.2402C= (p.Pro801=)
c.2063C= (p.Pro688=)
c.2411C= (p.Pro804=)
c.2241+278C= (n.2241+278C=)
c.2205+278C= (n.2205+278C=)
c.2441C= (p.Pro814=)
c.2133+278C= (n.2133+278C=)
c.1680-5925C= (n.1680-5925C=)
c.2537C= (p.Pro846=)
c.2603C= (p.Pro868=)
c.2600C= (p.Pro867=)
c.2573C= (p.Pro858=)
c.2519C= (p.Pro840=)
c.2492C= (p.Pro831=)
c.2477C= (p.Pro826=)
c.2084C= (p.Pro695=)
c.2546C= (p.Pro849=)
c.2483C= (p.Pro828=)
c.2480C= (p.Pro827=)
c.2438C= (p.Pro813=)
c.1511C= (p.Pro504=)
20g.63406768G>TCA409636834KCNQ2c.2549C>A (p.Pro850His)
c.2495C>A (p.Pro832His)
c.1892C>A (p.Pro631His)
c.2402C>A (p.Pro801His)
c.2063C>A (p.Pro688His)
c.2411C>A (p.Pro804His)
c.2241+278C>A (n.2241+278C>A)
c.2205+278C>A (n.2205+278C>A)
c.2441C>A (p.Pro814His)
c.2133+278C>A (n.2133+278C>A)
c.1680-5925C>A (n.1680-5925C>A)
c.2537C>A (p.Pro846His)
c.2603C>A (p.Pro868His)
c.2600C>A (p.Pro867His)
c.2573C>A (p.Pro858His)
c.2519C>A (p.Pro840His)
c.2492C>A (p.Pro831His)
c.2477C>A (p.Pro826His)
c.2084C>A (p.Pro695His)
c.2546C>A (p.Pro849His)
c.2483C>A (p.Pro828His)
c.2480C>A (p.Pro827His)
c.2438C>A (p.Pro813His)
c.1511C>A (p.Pro504His)
20g.63406769G>ACA409636837KCNQ2c.2548C>T (p.Pro850Ser)
c.2494C>T (p.Pro832Ser)
c.1891C>T (p.Pro631Ser)
c.2401C>T (p.Pro801Ser)
c.2062C>T (p.Pro688Ser)
c.2410C>T (p.Pro804Ser)
c.2241+277C>T (n.2241+277C>T)
c.2205+277C>T (n.2205+277C>T)
c.2440C>T (p.Pro814Ser)
c.2133+277C>T (n.2133+277C>T)
c.1680-5926C>T (n.1680-5926C>T)
c.2536C>T (p.Pro846Ser)
c.2602C>T (p.Pro868Ser)
c.2599C>T (p.Pro867Ser)
c.2572C>T (p.Pro858Ser)
c.2518C>T (p.Pro840Ser)
c.2491C>T (p.Pro831Ser)
c.2476C>T (p.Pro826Ser)
c.2083C>T (p.Pro695Ser)
c.2545C>T (p.Pro849Ser)
c.2482C>T (p.Pro828Ser)
c.2479C>T (p.Pro827Ser)
c.2437C>T (p.Pro813Ser)
c.1510C>T (p.Pro504Ser)
 gnomAD v4
20g.63406769G>CCA409636838KCNQ2c.2548C>G (p.Pro850Ala)
c.2494C>G (p.Pro832Ala)
c.1891C>G (p.Pro631Ala)
c.2401C>G (p.Pro801Ala)
c.2062C>G (p.Pro688Ala)
c.2410C>G (p.Pro804Ala)
c.2241+277C>G (n.2241+277C>G)
c.2205+277C>G (n.2205+277C>G)
c.2440C>G (p.Pro814Ala)
c.2133+277C>G (n.2133+277C>G)
c.1680-5926C>G (n.1680-5926C>G)
c.2536C>G (p.Pro846Ala)
c.2602C>G (p.Pro868Ala)
c.2599C>G (p.Pro867Ala)
c.2572C>G (p.Pro858Ala)
c.2518C>G (p.Pro840Ala)
c.2491C>G (p.Pro831Ala)
c.2476C>G (p.Pro826Ala)
c.2083C>G (p.Pro695Ala)
c.2545C>G (p.Pro849Ala)
c.2482C>G (p.Pro828Ala)
c.2479C>G (p.Pro827Ala)
c.2437C>G (p.Pro813Ala)
c.1510C>G (p.Pro504Ala)
 gnomAD v4
20g.63406769G>TCA409636840KCNQ2c.2548C>A (p.Pro850Thr)
c.2494C>A (p.Pro832Thr)
c.1891C>A (p.Pro631Thr)
c.2401C>A (p.Pro801Thr)
c.2062C>A (p.Pro688Thr)
c.2410C>A (p.Pro804Thr)
c.2241+277C>A (n.2241+277C>A)
c.2205+277C>A (n.2205+277C>A)
c.2440C>A (p.Pro814Thr)
c.2133+277C>A (n.2133+277C>A)
c.1680-5926C>A (n.1680-5926C>A)
c.2536C>A (p.Pro846Thr)
c.2602C>A (p.Pro868Thr)
c.2599C>A (p.Pro867Thr)
c.2572C>A (p.Pro858Thr)
c.2518C>A (p.Pro840Thr)
c.2491C>A (p.Pro831Thr)
c.2476C>A (p.Pro826Thr)
c.2083C>A (p.Pro695Thr)
c.2545C>A (p.Pro849Thr)
c.2482C>A (p.Pro828Thr)
c.2479C>A (p.Pro827Thr)
c.2437C>A (p.Pro813Thr)
c.1510C>A (p.Pro504Thr)
20g.63406770C>ACA409636842KCNQ2c.2547G>T (p.Arg849Ser)
c.2493G>T (p.Arg831Ser)
c.1890G>T (p.Arg630Ser)
c.2400G>T (p.Arg800Ser)
c.2061G>T (p.Arg687Ser)
c.2409G>T (p.Arg803Ser)
c.2241+276G>T (n.2241+276G>T)
c.2205+276G>T (n.2205+276G>T)
c.2439G>T (p.Arg813Ser)
c.2133+276G>T (n.2133+276G>T)
c.1680-5927G>T (n.1680-5927G>T)
c.2535G>T (p.Arg845Ser)
c.2601G>T (p.Arg867Ser)
c.2598G>T (p.Arg866Ser)
c.2571G>T (p.Arg857Ser)
c.2517G>T (p.Arg839Ser)
c.2490G>T (p.Arg830Ser)
c.2475G>T (p.Arg825Ser)
c.2082G>T (p.Arg694Ser)
c.2544G>T (p.Arg848Ser)
c.2481G>T (p.Arg827Ser)
c.2478G>T (p.Arg826Ser)
c.2436G>T (p.Arg812Ser)
c.1509G>T (p.Arg503Ser)
 gnomAD v4
20g.63406770C>GCA409636844KCNQ2c.2547G>C (p.Arg849Ser)
c.2493G>C (p.Arg831Ser)
c.1890G>C (p.Arg630Ser)
c.2400G>C (p.Arg800Ser)
c.2061G>C (p.Arg687Ser)
c.2409G>C (p.Arg803Ser)
c.2241+276G>C (n.2241+276G>C)
c.2205+276G>C (n.2205+276G>C)
c.2439G>C (p.Arg813Ser)
c.2133+276G>C (n.2133+276G>C)
c.1680-5927G>C (n.1680-5927G>C)
c.2535G>C (p.Arg845Ser)
c.2601G>C (p.Arg867Ser)
c.2598G>C (p.Arg866Ser)
c.2571G>C (p.Arg857Ser)
c.2517G>C (p.Arg839Ser)
c.2490G>C (p.Arg830Ser)
c.2475G>C (p.Arg825Ser)
c.2082G>C (p.Arg694Ser)
c.2544G>C (p.Arg848Ser)
c.2481G>C (p.Arg827Ser)
c.2478G>C (p.Arg826Ser)
c.2436G>C (p.Arg812Ser)
c.1509G>C (p.Arg503Ser)
20g.63406770C>TCA511339261KCNQ2c.2547G>A (p.Arg849=)
c.2493G>A (p.Arg831=)
c.1890G>A (p.Arg630=)
c.2400G>A (p.Arg800=)
c.2061G>A (p.Arg687=)
c.2409G>A (p.Arg803=)
c.2241+276G>A (n.2241+276G>A)
c.2205+276G>A (n.2205+276G>A)
c.2439G>A (p.Arg813=)
c.2133+276G>A (n.2133+276G>A)
c.1680-5927G>A (n.1680-5927G>A)
c.2535G>A (p.Arg845=)
c.2601G>A (p.Arg867=)
c.2598G>A (p.Arg866=)
c.2571G>A (p.Arg857=)
c.2517G>A (p.Arg839=)
c.2490G>A (p.Arg830=)
c.2475G>A (p.Arg825=)
c.2082G>A (p.Arg694=)
c.2544G>A (p.Arg848=)
c.2481G>A (p.Arg827=)
c.2478G>A (p.Arg826=)
c.2436G>A (p.Arg812=)
c.1509G>A (p.Arg503=)
 ClinVar dbSNP gnomAD v4
20g.63406771C>ACA409636847KCNQ2c.2546G>T (p.Arg849Met)
c.2492G>T (p.Arg831Met)
c.1889G>T (p.Arg630Met)
c.2399G>T (p.Arg800Met)
c.2060G>T (p.Arg687Met)
c.2408G>T (p.Arg803Met)
c.2241+275G>T (n.2241+275G>T)
c.2205+275G>T (n.2205+275G>T)
c.2438G>T (p.Arg813Met)
c.2133+275G>T (n.2133+275G>T)
c.1680-5928G>T (n.1680-5928G>T)
c.2534G>T (p.Arg845Met)
c.2600G>T (p.Arg867Met)
c.2597G>T (p.Arg866Met)
c.2570G>T (p.Arg857Met)
c.2516G>T (p.Arg839Met)
c.2489G>T (p.Arg830Met)
c.2474G>T (p.Arg825Met)
c.2081G>T (p.Arg694Met)
c.2543G>T (p.Arg848Met)
c.2480G>T (p.Arg827Met)
c.2477G>T (p.Arg826Met)
c.2435G>T (p.Arg812Met)
c.1508G>T (p.Arg503Met)
 COSMIC
20g.63406771C>GCA409636848KCNQ2c.2546G>C (p.Arg849Thr)
c.2492G>C (p.Arg831Thr)
c.1889G>C (p.Arg630Thr)
c.2399G>C (p.Arg800Thr)
c.2060G>C (p.Arg687Thr)
c.2408G>C (p.Arg803Thr)
c.2241+275G>C (n.2241+275G>C)
c.2205+275G>C (n.2205+275G>C)
c.2438G>C (p.Arg813Thr)
c.2133+275G>C (n.2133+275G>C)
c.1680-5928G>C (n.1680-5928G>C)
c.2534G>C (p.Arg845Thr)
c.2600G>C (p.Arg867Thr)
c.2597G>C (p.Arg866Thr)
c.2570G>C (p.Arg857Thr)
c.2516G>C (p.Arg839Thr)
c.2489G>C (p.Arg830Thr)
c.2474G>C (p.Arg825Thr)
c.2081G>C (p.Arg694Thr)
c.2543G>C (p.Arg848Thr)
c.2480G>C (p.Arg827Thr)
c.2477G>C (p.Arg826Thr)
c.2435G>C (p.Arg812Thr)
c.1508G>C (p.Arg503Thr)
20g.63406771C>TCA409636850KCNQ2c.2546G>A (p.Arg849Lys)
c.2492G>A (p.Arg831Lys)
c.1889G>A (p.Arg630Lys)
c.2399G>A (p.Arg800Lys)
c.2060G>A (p.Arg687Lys)
c.2408G>A (p.Arg803Lys)
c.2241+275G>A (n.2241+275G>A)
c.2205+275G>A (n.2205+275G>A)
c.2438G>A (p.Arg813Lys)
c.2133+275G>A (n.2133+275G>A)
c.1680-5928G>A (n.1680-5928G>A)
c.2534G>A (p.Arg845Lys)
c.2600G>A (p.Arg867Lys)
c.2597G>A (p.Arg866Lys)
c.2570G>A (p.Arg857Lys)
c.2516G>A (p.Arg839Lys)
c.2489G>A (p.Arg830Lys)
c.2474G>A (p.Arg825Lys)
c.2081G>A (p.Arg694Lys)
c.2543G>A (p.Arg848Lys)
c.2480G>A (p.Arg827Lys)
c.2477G>A (p.Arg826Lys)
c.2435G>A (p.Arg812Lys)
c.1508G>A (p.Arg503Lys)
20g.63406772T>ACA409636853KCNQ2c.2545A>T (p.Arg849Trp)
c.2491A>T (p.Arg831Trp)
c.1888A>T (p.Arg630Trp)
c.2398A>T (p.Arg800Trp)
c.2059A>T (p.Arg687Trp)
c.2407A>T (p.Arg803Trp)
c.2241+274A>T (n.2241+274A>T)
c.2205+274A>T (n.2205+274A>T)
c.2437A>T (p.Arg813Trp)
c.2133+274A>T (n.2133+274A>T)
c.1680-5929A>T (n.1680-5929A>T)
c.2533A>T (p.Arg845Trp)
c.2599A>T (p.Arg867Trp)
c.2596A>T (p.Arg866Trp)
c.2569A>T (p.Arg857Trp)
c.2515A>T (p.Arg839Trp)
c.2488A>T (p.Arg830Trp)
c.2473A>T (p.Arg825Trp)
c.2080A>T (p.Arg694Trp)
c.2542A>T (p.Arg848Trp)
c.2479A>T (p.Arg827Trp)
c.2476A>T (p.Arg826Trp)
c.2434A>T (p.Arg812Trp)
c.1507A>T (p.Arg503Trp)
20g.63406772T>CCA409636854KCNQ2c.2545A>G (p.Arg849Gly)
c.2491A>G (p.Arg831Gly)
c.1888A>G (p.Arg630Gly)
c.2398A>G (p.Arg800Gly)
c.2059A>G (p.Arg687Gly)
c.2407A>G (p.Arg803Gly)
c.2241+274A>G (n.2241+274A>G)
c.2205+274A>G (n.2205+274A>G)
c.2437A>G (p.Arg813Gly)
c.2133+274A>G (n.2133+274A>G)
c.1680-5929A>G (n.1680-5929A>G)
c.2533A>G (p.Arg845Gly)
c.2599A>G (p.Arg867Gly)
c.2596A>G (p.Arg866Gly)
c.2569A>G (p.Arg857Gly)
c.2515A>G (p.Arg839Gly)
c.2488A>G (p.Arg830Gly)
c.2473A>G (p.Arg825Gly)
c.2080A>G (p.Arg694Gly)
c.2542A>G (p.Arg848Gly)
c.2479A>G (p.Arg827Gly)
c.2476A>G (p.Arg826Gly)
c.2434A>G (p.Arg812Gly)
c.1507A>G (p.Arg503Gly)
 dbSNP gnomAD v4
20g.63406772T>GCA511339264KCNQ2c.2545A>C (p.Arg849=)
c.2491A>C (p.Arg831=)
c.1888A>C (p.Arg630=)
c.2398A>C (p.Arg800=)
c.2059A>C (p.Arg687=)
c.2407A>C (p.Arg803=)
c.2241+274A>C (n.2241+274A>C)
c.2205+274A>C (n.2205+274A>C)
c.2437A>C (p.Arg813=)
c.2133+274A>C (n.2133+274A>C)
c.1680-5929A>C (n.1680-5929A>C)
c.2533A>C (p.Arg845=)
c.2599A>C (p.Arg867=)
c.2596A>C (p.Arg866=)
c.2569A>C (p.Arg857=)
c.2515A>C (p.Arg839=)
c.2488A>C (p.Arg830=)
c.2473A>C (p.Arg825=)
c.2080A>C (p.Arg694=)
c.2542A>C (p.Arg848=)
c.2479A>C (p.Arg827=)
c.2476A>C (p.Arg826=)
c.2434A>C (p.Arg812=)
c.1507A>C (p.Arg503=)
20g.63406772T=CA2374774239KCNQ2c.2545A= (p.Arg849=)
c.2491A= (p.Arg831=)
c.1888A= (p.Arg630=)
c.2398A= (p.Arg800=)
c.2059A= (p.Arg687=)
c.2407A= (p.Arg803=)
c.2241+274A= (n.2241+274A=)
c.2205+274A= (n.2205+274A=)
c.2437A= (p.Arg813=)
c.2133+274A= (n.2133+274A=)
c.1680-5929A= (n.1680-5929A=)
c.2533A= (p.Arg845=)
c.2599A= (p.Arg867=)
c.2596A= (p.Arg866=)
c.2569A= (p.Arg857=)
c.2515A= (p.Arg839=)
c.2488A= (p.Arg830=)
c.2473A= (p.Arg825=)
c.2080A= (p.Arg694=)
c.2542A= (p.Arg848=)
c.2479A= (p.Arg827=)
c.2476A= (p.Arg826=)
c.2434A= (p.Arg812=)
c.1507A= (p.Arg503=)
20g.63406773G>ACA511339266KCNQ2c.2544C>T (p.Val848=)
c.2490C>T (p.Val830=)
c.1887C>T (p.Val629=)
c.2397C>T (p.Val799=)
c.2058C>T (p.Val686=)
c.2406C>T (p.Val802=)
c.2241+273C>T (n.2241+273C>T)
c.2205+273C>T (n.2205+273C>T)
c.2436C>T (p.Val812=)
c.2133+273C>T (n.2133+273C>T)
c.1680-5930C>T (n.1680-5930C>T)
c.2532C>T (p.Val844=)
c.2598C>T (p.Val866=)
c.2595C>T (p.Val865=)
c.2568C>T (p.Val856=)
c.2514C>T (p.Val838=)
c.2487C>T (p.Val829=)
c.2472C>T (p.Val824=)
c.2079C>T (p.Val693=)
c.2541C>T (p.Val847=)
c.2478C>T (p.Val826=)
c.2475C>T (p.Val825=)
c.2433C>T (p.Val811=)
c.1506C>T (p.Val502=)
20g.63406773G>CCA9958068KCNQ2c.2544C>G (p.Val848=)
c.2490C>G (p.Val830=)
c.1887C>G (p.Val629=)
c.2397C>G (p.Val799=)
c.2058C>G (p.Val686=)
c.2406C>G (p.Val802=)
c.2241+273C>G (n.2241+273C>G)
c.2205+273C>G (n.2205+273C>G)
c.2436C>G (p.Val812=)
c.2133+273C>G (n.2133+273C>G)
c.1680-5930C>G (n.1680-5930C>G)
c.2532C>G (p.Val844=)
c.2598C>G (p.Val866=)
c.2595C>G (p.Val865=)
c.2568C>G (p.Val856=)
c.2514C>G (p.Val838=)
c.2487C>G (p.Val829=)
c.2472C>G (p.Val824=)
c.2079C>G (p.Val693=)
c.2541C>G (p.Val847=)
c.2478C>G (p.Val826=)
c.2475C>G (p.Val825=)
c.2433C>G (p.Val811=)
c.1506C>G (p.Val502=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406773G=CA2374774240KCNQ2c.2544C= (p.Val848=)
c.2490C= (p.Val830=)
c.1887C= (p.Val629=)
c.2397C= (p.Val799=)
c.2058C= (p.Val686=)
c.2406C= (p.Val802=)
c.2241+273C= (n.2241+273C=)
c.2205+273C= (n.2205+273C=)
c.2436C= (p.Val812=)
c.2133+273C= (n.2133+273C=)
c.1680-5930C= (n.1680-5930C=)
c.2532C= (p.Val844=)
c.2598C= (p.Val866=)
c.2595C= (p.Val865=)
c.2568C= (p.Val856=)
c.2514C= (p.Val838=)
c.2487C= (p.Val829=)
c.2472C= (p.Val824=)
c.2079C= (p.Val693=)
c.2541C= (p.Val847=)
c.2478C= (p.Val826=)
c.2475C= (p.Val825=)
c.2433C= (p.Val811=)
c.1506C= (p.Val502=)
20g.63406773G>TCA511339267KCNQ2c.2544C>A (p.Val848=)
c.2490C>A (p.Val830=)
c.1887C>A (p.Val629=)
c.2397C>A (p.Val799=)
c.2058C>A (p.Val686=)
c.2406C>A (p.Val802=)
c.2241+273C>A (n.2241+273C>A)
c.2205+273C>A (n.2205+273C>A)
c.2436C>A (p.Val812=)
c.2133+273C>A (n.2133+273C>A)
c.1680-5930C>A (n.1680-5930C>A)
c.2532C>A (p.Val844=)
c.2598C>A (p.Val866=)
c.2595C>A (p.Val865=)
c.2568C>A (p.Val856=)
c.2514C>A (p.Val838=)
c.2487C>A (p.Val829=)
c.2472C>A (p.Val824=)
c.2079C>A (p.Val693=)
c.2541C>A (p.Val847=)
c.2478C>A (p.Val826=)
c.2475C>A (p.Val825=)
c.2433C>A (p.Val811=)
c.1506C>A (p.Val502=)
20g.63406774A>CCA409636857KCNQ2c.2543T>G (p.Val848Gly)
c.2489T>G (p.Val830Gly)
c.1886T>G (p.Val629Gly)
c.2396T>G (p.Val799Gly)
c.2057T>G (p.Val686Gly)
c.2405T>G (p.Val802Gly)
c.2241+272T>G (n.2241+272T>G)
c.2205+272T>G (n.2205+272T>G)
c.2435T>G (p.Val812Gly)
c.2133+272T>G (n.2133+272T>G)
c.1680-5931T>G (n.1680-5931T>G)
c.2531T>G (p.Val844Gly)
c.2597T>G (p.Val866Gly)
c.2594T>G (p.Val865Gly)
c.2567T>G (p.Val856Gly)
c.2513T>G (p.Val838Gly)
c.2486T>G (p.Val829Gly)
c.2471T>G (p.Val824Gly)
c.2078T>G (p.Val693Gly)
c.2540T>G (p.Val847Gly)
c.2477T>G (p.Val826Gly)
c.2474T>G (p.Val825Gly)
c.2432T>G (p.Val811Gly)
c.1505T>G (p.Val502Gly)
20g.63406774A>GCA409636859KCNQ2c.2543T>C (p.Val848Ala)
c.2489T>C (p.Val830Ala)
c.1886T>C (p.Val629Ala)
c.2396T>C (p.Val799Ala)
c.2057T>C (p.Val686Ala)
c.2405T>C (p.Val802Ala)
c.2241+272T>C (n.2241+272T>C)
c.2205+272T>C (n.2205+272T>C)
c.2435T>C (p.Val812Ala)
c.2133+272T>C (n.2133+272T>C)
c.1680-5931T>C (n.1680-5931T>C)
c.2531T>C (p.Val844Ala)
c.2597T>C (p.Val866Ala)
c.2594T>C (p.Val865Ala)
c.2567T>C (p.Val856Ala)
c.2513T>C (p.Val838Ala)
c.2486T>C (p.Val829Ala)
c.2471T>C (p.Val824Ala)
c.2078T>C (p.Val693Ala)
c.2540T>C (p.Val847Ala)
c.2477T>C (p.Val826Ala)
c.2474T>C (p.Val825Ala)
c.2432T>C (p.Val811Ala)
c.1505T>C (p.Val502Ala)
20g.63406774A>TCA409636861KCNQ2c.2543T>A (p.Val848Asp)
c.2489T>A (p.Val830Asp)
c.1886T>A (p.Val629Asp)
c.2396T>A (p.Val799Asp)
c.2057T>A (p.Val686Asp)
c.2405T>A (p.Val802Asp)
c.2241+272T>A (n.2241+272T>A)
c.2205+272T>A (n.2205+272T>A)
c.2435T>A (p.Val812Asp)
c.2133+272T>A (n.2133+272T>A)
c.1680-5931T>A (n.1680-5931T>A)
c.2531T>A (p.Val844Asp)
c.2597T>A (p.Val866Asp)
c.2594T>A (p.Val865Asp)
c.2567T>A (p.Val856Asp)
c.2513T>A (p.Val838Asp)
c.2486T>A (p.Val829Asp)
c.2471T>A (p.Val824Asp)
c.2078T>A (p.Val693Asp)
c.2540T>A (p.Val847Asp)
c.2477T>A (p.Val826Asp)
c.2474T>A (p.Val825Asp)
c.2432T>A (p.Val811Asp)
c.1505T>A (p.Val502Asp)
20g.63406775C>ACA409636863KCNQ2c.2542G>T (p.Val848Phe)
c.2488G>T (p.Val830Phe)
c.1885G>T (p.Val629Phe)
c.2395G>T (p.Val799Phe)
c.2056G>T (p.Val686Phe)
c.2404G>T (p.Val802Phe)
c.2241+271G>T (n.2241+271G>T)
c.2205+271G>T (n.2205+271G>T)
c.2434G>T (p.Val812Phe)
c.2133+271G>T (n.2133+271G>T)
c.1680-5932G>T (n.1680-5932G>T)
c.2530G>T (p.Val844Phe)
c.2596G>T (p.Val866Phe)
c.2593G>T (p.Val865Phe)
c.2566G>T (p.Val856Phe)
c.2512G>T (p.Val838Phe)
c.2485G>T (p.Val829Phe)
c.2470G>T (p.Val824Phe)
c.2077G>T (p.Val693Phe)
c.2539G>T (p.Val847Phe)
c.2476G>T (p.Val826Phe)
c.2473G>T (p.Val825Phe)
c.2431G>T (p.Val811Phe)
c.1504G>T (p.Val502Phe)
20g.63406775C=CA2374774242KCNQ2c.2542G= (p.Val848=)
c.2488G= (p.Val830=)
c.1885G= (p.Val629=)
c.2395G= (p.Val799=)
c.2056G= (p.Val686=)
c.2404G= (p.Val802=)
c.2241+271G= (n.2241+271G=)
c.2205+271G= (n.2205+271G=)
c.2434G= (p.Val812=)
c.2133+271G= (n.2133+271G=)
c.1680-5932G= (n.1680-5932G=)
c.2530G= (p.Val844=)
c.2596G= (p.Val866=)
c.2593G= (p.Val865=)
c.2566G= (p.Val856=)
c.2512G= (p.Val838=)
c.2485G= (p.Val829=)
c.2470G= (p.Val824=)
c.2077G= (p.Val693=)
c.2539G= (p.Val847=)
c.2476G= (p.Val826=)
c.2473G= (p.Val825=)
c.2431G= (p.Val811=)
c.1504G= (p.Val502=)
20g.63406775C>GCA409636865KCNQ2c.2542G>C (p.Val848Leu)
c.2488G>C (p.Val830Leu)
c.1885G>C (p.Val629Leu)
c.2395G>C (p.Val799Leu)
c.2056G>C (p.Val686Leu)
c.2404G>C (p.Val802Leu)
c.2241+271G>C (n.2241+271G>C)
c.2205+271G>C (n.2205+271G>C)
c.2434G>C (p.Val812Leu)
c.2133+271G>C (n.2133+271G>C)
c.1680-5932G>C (n.1680-5932G>C)
c.2530G>C (p.Val844Leu)
c.2596G>C (p.Val866Leu)
c.2593G>C (p.Val865Leu)
c.2566G>C (p.Val856Leu)
c.2512G>C (p.Val838Leu)
c.2485G>C (p.Val829Leu)
c.2470G>C (p.Val824Leu)
c.2077G>C (p.Val693Leu)
c.2539G>C (p.Val847Leu)
c.2476G>C (p.Val826Leu)
c.2473G>C (p.Val825Leu)
c.2431G>C (p.Val811Leu)
c.1504G>C (p.Val502Leu)
20g.63406775C>TCA409636867KCNQ2c.2542G>A (p.Val848Ile)
c.2488G>A (p.Val830Ile)
c.1885G>A (p.Val629Ile)
c.2395G>A (p.Val799Ile)
c.2056G>A (p.Val686Ile)
c.2404G>A (p.Val802Ile)
c.2241+271G>A (n.2241+271G>A)
c.2205+271G>A (n.2205+271G>A)
c.2434G>A (p.Val812Ile)
c.2133+271G>A (n.2133+271G>A)
c.1680-5932G>A (n.1680-5932G>A)
c.2530G>A (p.Val844Ile)
c.2596G>A (p.Val866Ile)
c.2593G>A (p.Val865Ile)
c.2566G>A (p.Val856Ile)
c.2512G>A (p.Val838Ile)
c.2485G>A (p.Val829Ile)
c.2470G>A (p.Val824Ile)
c.2077G>A (p.Val693Ile)
c.2539G>A (p.Val847Ile)
c.2476G>A (p.Val826Ile)
c.2473G>A (p.Val825Ile)
c.2431G>A (p.Val811Ile)
c.1504G>A (p.Val502Ile)
 dbSNP gnomAD v2 gnomAD v4
20g.63406775_63406777delinsCTTCA2374774241KCNQ2c.2540_2542delinsAAG (p.Lys847=)
c.2486_2488delinsAAG (p.Lys829=)
c.1883_1885delinsAAG (p.Lys628=)
c.2393_2395delinsAAG (p.Lys798=)
c.2054_2056delinsAAG (p.Lys685=)
c.2402_2404delinsAAG (p.Lys801=)
c.2241+269_2241+271delinsAAG (n.2241+269_2241+271delinsAAG)
c.2205+269_2205+271delinsAAG (n.2205+269_2205+271delinsAAG)
c.2432_2434delinsAAG (p.Lys811=)
c.2133+269_2133+271delinsAAG (n.2133+269_2133+271delinsAAG)
c.1680-5934_1680-5932delinsAAG (n.1680-5934_1680-5932delinsAAG)
c.2528_2530delinsAAG (p.Lys843=)
c.2594_2596delinsAAG (p.Lys865=)
c.2591_2593delinsAAG (p.Lys864=)
c.2564_2566delinsAAG (p.Lys855=)
c.2510_2512delinsAAG (p.Lys837=)
c.2483_2485delinsAAG (p.Lys828=)
c.2468_2470delinsAAG (p.Lys823=)
c.2075_2077delinsAAG (p.Lys692=)
c.2537_2539delinsAAG (p.Lys846=)
c.2474_2476delinsAAG (p.Lys825=)
c.2471_2473delinsAAG (p.Lys824=)
c.2429_2431delinsAAG (p.Lys810=)
c.1502_1504delinsAAG (p.Lys501=)
20g.63406776T>ACA409636870KCNQ2c.2541A>T (p.Lys847Asn)
c.2487A>T (p.Lys829Asn)
c.1884A>T (p.Lys628Asn)
c.2394A>T (p.Lys798Asn)
c.2055A>T (p.Lys685Asn)
c.2403A>T (p.Lys801Asn)
c.2241+270A>T (n.2241+270A>T)
c.2205+270A>T (n.2205+270A>T)
c.2433A>T (p.Lys811Asn)
c.2133+270A>T (n.2133+270A>T)
c.1680-5933A>T (n.1680-5933A>T)
c.2529A>T (p.Lys843Asn)
c.2595A>T (p.Lys865Asn)
c.2592A>T (p.Lys864Asn)
c.2565A>T (p.Lys855Asn)
c.2511A>T (p.Lys837Asn)
c.2484A>T (p.Lys828Asn)
c.2469A>T (p.Lys823Asn)
c.2076A>T (p.Lys692Asn)
c.2538A>T (p.Lys846Asn)
c.2475A>T (p.Lys825Asn)
c.2472A>T (p.Lys824Asn)
c.2430A>T (p.Lys810Asn)
c.1503A>T (p.Lys501Asn)
20g.63406776T>CCA511339269KCNQ2c.2541A>G (p.Lys847=)
c.2487A>G (p.Lys829=)
c.1884A>G (p.Lys628=)
c.2394A>G (p.Lys798=)
c.2055A>G (p.Lys685=)
c.2403A>G (p.Lys801=)
c.2241+270A>G (n.2241+270A>G)
c.2205+270A>G (n.2205+270A>G)
c.2433A>G (p.Lys811=)
c.2133+270A>G (n.2133+270A>G)
c.1680-5933A>G (n.1680-5933A>G)
c.2529A>G (p.Lys843=)
c.2595A>G (p.Lys865=)
c.2592A>G (p.Lys864=)
c.2565A>G (p.Lys855=)
c.2511A>G (p.Lys837=)
c.2484A>G (p.Lys828=)
c.2469A>G (p.Lys823=)
c.2076A>G (p.Lys692=)
c.2538A>G (p.Lys846=)
c.2475A>G (p.Lys825=)
c.2472A>G (p.Lys824=)
c.2430A>G (p.Lys810=)
c.1503A>G (p.Lys501=)
20g.63406776T>GCA409636871KCNQ2c.2541A>C (p.Lys847Asn)
c.2487A>C (p.Lys829Asn)
c.1884A>C (p.Lys628Asn)
c.2394A>C (p.Lys798Asn)
c.2055A>C (p.Lys685Asn)
c.2403A>C (p.Lys801Asn)
c.2241+270A>C (n.2241+270A>C)
c.2205+270A>C (n.2205+270A>C)
c.2433A>C (p.Lys811Asn)
c.2133+270A>C (n.2133+270A>C)
c.1680-5933A>C (n.1680-5933A>C)
c.2529A>C (p.Lys843Asn)
c.2595A>C (p.Lys865Asn)
c.2592A>C (p.Lys864Asn)
c.2565A>C (p.Lys855Asn)
c.2511A>C (p.Lys837Asn)
c.2484A>C (p.Lys828Asn)
c.2469A>C (p.Lys823Asn)
c.2076A>C (p.Lys692Asn)
c.2538A>C (p.Lys846Asn)
c.2475A>C (p.Lys825Asn)
c.2472A>C (p.Lys824Asn)
c.2430A>C (p.Lys810Asn)
c.1503A>C (p.Lys501Asn)
20g.63406778dupCA658768791KCNQ2c.2541dup (p.Val848SerfsTer?)
c.2487dup (p.Val830SerfsTer?)
c.1884dup (p.Val629SerfsTer?)
c.2394dup (p.Val799SerfsTer?)
c.2055dup (p.Val686SerfsTer?)
c.2403dup (p.Val802SerfsTer?)
c.2241+270dup (n.2241+270dup)
c.2205+270dup (n.2205+270dup)
c.2433dup (p.Val812SerfsTer?)
c.2133+270dup (n.2133+270dup)
c.1680-5933dup (n.1680-5933dup)
c.2529dup (p.Val844SerfsTer?)
c.2595dup (p.Val866SerfsTer?)
c.2592dup (p.Val865SerfsTer?)
c.2565dup (p.Val856SerfsTer?)
c.2511dup (p.Val838SerfsTer?)
c.2484dup (p.Val829SerfsTer?)
c.2469dup (p.Val824SerfsTer?)
c.2076dup (p.Val693SerfsTer?)
c.2538dup (p.Val847SerfsTer?)
c.2475dup (p.Val826SerfsTer?)
c.2472dup (p.Val825SerfsTer?)
c.2430dup (p.Val811SerfsTer?)
c.1503dup (p.Val502SerfsTer?)
20g.63406777_63406778delCA916083758KCNQ2c.2540_2541del (p.Lys847SerfsTer?)
c.2486_2487del (p.Lys829SerfsTer?)
c.1883_1884del (p.Lys628SerfsTer?)
c.2393_2394del (p.Lys798SerfsTer?)
c.2054_2055del (p.Lys685SerfsTer?)
c.2402_2403del (p.Lys801SerfsTer?)
c.2241+269_2241+270del (n.2241+269_2241+270del)
c.2205+269_2205+270del (n.2205+269_2205+270del)
c.2432_2433del (p.Lys811SerfsTer?)
c.2133+269_2133+270del (n.2133+269_2133+270del)
c.1680-5934_1680-5933del (n.1680-5934_1680-5933del)
c.2528_2529del (p.Lys843SerfsTer?)
c.2594_2595del (p.Lys865SerfsTer?)
c.2591_2592del (p.Lys864SerfsTer?)
c.2564_2565del (p.Lys855SerfsTer?)
c.2510_2511del (p.Lys837SerfsTer?)
c.2483_2484del (p.Lys828SerfsTer?)
c.2468_2469del (p.Lys823SerfsTer?)
c.2075_2076del (p.Lys692SerfsTer?)
c.2537_2538del (p.Lys846SerfsTer?)
c.2474_2475del (p.Lys825SerfsTer?)
c.2471_2472del (p.Lys824SerfsTer?)
c.2429_2430del (p.Lys810SerfsTer?)
c.1502_1503del (p.Lys501SerfsTer?)
 ClinVar dbSNP
20g.63406777T>ACA409636873KCNQ2c.2540A>T (p.Lys847Ile)
c.2486A>T (p.Lys829Ile)
c.1883A>T (p.Lys628Ile)
c.2393A>T (p.Lys798Ile)
c.2054A>T (p.Lys685Ile)
c.2402A>T (p.Lys801Ile)
c.2241+269A>T (n.2241+269A>T)
c.2205+269A>T (n.2205+269A>T)
c.2432A>T (p.Lys811Ile)
c.2133+269A>T (n.2133+269A>T)
c.1680-5934A>T (n.1680-5934A>T)
c.2528A>T (p.Lys843Ile)
c.2594A>T (p.Lys865Ile)
c.2591A>T (p.Lys864Ile)
c.2564A>T (p.Lys855Ile)
c.2510A>T (p.Lys837Ile)
c.2483A>T (p.Lys828Ile)
c.2468A>T (p.Lys823Ile)
c.2075A>T (p.Lys692Ile)
c.2537A>T (p.Lys846Ile)
c.2474A>T (p.Lys825Ile)
c.2471A>T (p.Lys824Ile)
c.2429A>T (p.Lys810Ile)
c.1502A>T (p.Lys501Ile)
20g.63406777T>CCA409636875KCNQ2c.2540A>G (p.Lys847Arg)
c.2486A>G (p.Lys829Arg)
c.1883A>G (p.Lys628Arg)
c.2393A>G (p.Lys798Arg)
c.2054A>G (p.Lys685Arg)
c.2402A>G (p.Lys801Arg)
c.2241+269A>G (n.2241+269A>G)
c.2205+269A>G (n.2205+269A>G)
c.2432A>G (p.Lys811Arg)
c.2133+269A>G (n.2133+269A>G)
c.1680-5934A>G (n.1680-5934A>G)
c.2528A>G (p.Lys843Arg)
c.2594A>G (p.Lys865Arg)
c.2591A>G (p.Lys864Arg)
c.2564A>G (p.Lys855Arg)
c.2510A>G (p.Lys837Arg)
c.2483A>G (p.Lys828Arg)
c.2468A>G (p.Lys823Arg)
c.2075A>G (p.Lys692Arg)
c.2537A>G (p.Lys846Arg)
c.2474A>G (p.Lys825Arg)
c.2471A>G (p.Lys824Arg)
c.2429A>G (p.Lys810Arg)
c.1502A>G (p.Lys501Arg)
20g.63406777T>GCA409636876KCNQ2c.2540A>C (p.Lys847Thr)
c.2486A>C (p.Lys829Thr)
c.1883A>C (p.Lys628Thr)
c.2393A>C (p.Lys798Thr)
c.2054A>C (p.Lys685Thr)
c.2402A>C (p.Lys801Thr)
c.2241+269A>C (n.2241+269A>C)
c.2205+269A>C (n.2205+269A>C)
c.2432A>C (p.Lys811Thr)
c.2133+269A>C (n.2133+269A>C)
c.1680-5934A>C (n.1680-5934A>C)
c.2528A>C (p.Lys843Thr)
c.2594A>C (p.Lys865Thr)
c.2591A>C (p.Lys864Thr)
c.2564A>C (p.Lys855Thr)
c.2510A>C (p.Lys837Thr)
c.2483A>C (p.Lys828Thr)
c.2468A>C (p.Lys823Thr)
c.2075A>C (p.Lys692Thr)
c.2537A>C (p.Lys846Thr)
c.2474A>C (p.Lys825Thr)
c.2471A>C (p.Lys824Thr)
c.2429A>C (p.Lys810Thr)
c.1502A>C (p.Lys501Thr)
 gnomAD v4
20g.63406778T>ACA409636882KCNQ2c.2539A>T (p.Lys847Ter)
c.2485A>T (p.Lys829Ter)
c.1882A>T (p.Lys628Ter)
c.2392A>T (p.Lys798Ter)
c.2053A>T (p.Lys685Ter)
c.2401A>T (p.Lys801Ter)
c.2241+268A>T (n.2241+268A>T)
c.2205+268A>T (n.2205+268A>T)
c.2431A>T (p.Lys811Ter)
c.2133+268A>T (n.2133+268A>T)
c.1680-5935A>T (n.1680-5935A>T)
c.2527A>T (p.Lys843Ter)
c.2593A>T (p.Lys865Ter)
c.2590A>T (p.Lys864Ter)
c.2563A>T (p.Lys855Ter)
c.2509A>T (p.Lys837Ter)
c.2482A>T (p.Lys828Ter)
c.2467A>T (p.Lys823Ter)
c.2074A>T (p.Lys692Ter)
c.2536A>T (p.Lys846Ter)
c.2473A>T (p.Lys825Ter)
c.2470A>T (p.Lys824Ter)
c.2428A>T (p.Lys810Ter)
c.1501A>T (p.Lys501Ter)
20g.63406778T>CCA409636880KCNQ2c.2539A>G (p.Lys847Glu)
c.2485A>G (p.Lys829Glu)
c.1882A>G (p.Lys628Glu)
c.2392A>G (p.Lys798Glu)
c.2053A>G (p.Lys685Glu)
c.2401A>G (p.Lys801Glu)
c.2241+268A>G (n.2241+268A>G)
c.2205+268A>G (n.2205+268A>G)
c.2431A>G (p.Lys811Glu)
c.2133+268A>G (n.2133+268A>G)
c.1680-5935A>G (n.1680-5935A>G)
c.2527A>G (p.Lys843Glu)
c.2593A>G (p.Lys865Glu)
c.2590A>G (p.Lys864Glu)
c.2563A>G (p.Lys855Glu)
c.2509A>G (p.Lys837Glu)
c.2482A>G (p.Lys828Glu)
c.2467A>G (p.Lys823Glu)
c.2074A>G (p.Lys692Glu)
c.2536A>G (p.Lys846Glu)
c.2473A>G (p.Lys825Glu)
c.2470A>G (p.Lys824Glu)
c.2428A>G (p.Lys810Glu)
c.1501A>G (p.Lys501Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63406778T>GCA409636878KCNQ2c.2539A>C (p.Lys847Gln)
c.2485A>C (p.Lys829Gln)
c.1882A>C (p.Lys628Gln)
c.2392A>C (p.Lys798Gln)
c.2053A>C (p.Lys685Gln)
c.2401A>C (p.Lys801Gln)
c.2241+268A>C (n.2241+268A>C)
c.2205+268A>C (n.2205+268A>C)
c.2431A>C (p.Lys811Gln)
c.2133+268A>C (n.2133+268A>C)
c.1680-5935A>C (n.1680-5935A>C)
c.2527A>C (p.Lys843Gln)
c.2593A>C (p.Lys865Gln)
c.2590A>C (p.Lys864Gln)
c.2563A>C (p.Lys855Gln)
c.2509A>C (p.Lys837Gln)
c.2482A>C (p.Lys828Gln)
c.2467A>C (p.Lys823Gln)
c.2074A>C (p.Lys692Gln)
c.2536A>C (p.Lys846Gln)
c.2473A>C (p.Lys825Gln)
c.2470A>C (p.Lys824Gln)
c.2428A>C (p.Lys810Gln)
c.1501A>C (p.Lys501Gln)
20g.63406778T=CA2374774243KCNQ2c.2539A= (p.Lys847=)
c.2485A= (p.Lys829=)
c.1882A= (p.Lys628=)
c.2392A= (p.Lys798=)
c.2053A= (p.Lys685=)
c.2401A= (p.Lys801=)
c.2241+268A= (n.2241+268A=)
c.2205+268A= (n.2205+268A=)
c.2431A= (p.Lys811=)
c.2133+268A= (n.2133+268A=)
c.1680-5935A= (n.1680-5935A=)
c.2527A= (p.Lys843=)
c.2593A= (p.Lys865=)
c.2590A= (p.Lys864=)
c.2563A= (p.Lys855=)
c.2509A= (p.Lys837=)
c.2482A= (p.Lys828=)
c.2467A= (p.Lys823=)
c.2074A= (p.Lys692=)
c.2536A= (p.Lys846=)
c.2473A= (p.Lys825=)
c.2470A= (p.Lys824=)
c.2428A= (p.Lys810=)
c.1501A= (p.Lys501=)
20g.63406779G>ACA511339274KCNQ2c.2538C>T (p.Ala846=)
c.2484C>T (p.Ala828=)
c.1881C>T (p.Ala627=)
c.2391C>T (p.Ala797=)
c.2052C>T (p.Ala684=)
c.2400C>T (p.Ala800=)
c.2241+267C>T (n.2241+267C>T)
c.2205+267C>T (n.2205+267C>T)
c.2430C>T (p.Ala810=)
c.2133+267C>T (n.2133+267C>T)
c.1680-5936C>T (n.1680-5936C>T)
c.2526C>T (p.Ala842=)
c.2592C>T (p.Ala864=)
c.2589C>T (p.Ala863=)
c.2562C>T (p.Ala854=)
c.2508C>T (p.Ala836=)
c.2481C>T (p.Ala827=)
c.2466C>T (p.Ala822=)
c.2073C>T (p.Ala691=)
c.2535C>T (p.Ala845=)
c.2472C>T (p.Ala824=)
c.2469C>T (p.Ala823=)
c.2427C>T (p.Ala809=)
c.1500C>T (p.Ala500=)
20g.63406779G>CCA317421654KCNQ2c.2538C>G (p.Ala846=)
c.2484C>G (p.Ala828=)
c.1881C>G (p.Ala627=)
c.2391C>G (p.Ala797=)
c.2052C>G (p.Ala684=)
c.2400C>G (p.Ala800=)
c.2241+267C>G (n.2241+267C>G)
c.2205+267C>G (n.2205+267C>G)
c.2430C>G (p.Ala810=)
c.2133+267C>G (n.2133+267C>G)
c.1680-5936C>G (n.1680-5936C>G)
c.2526C>G (p.Ala842=)
c.2592C>G (p.Ala864=)
c.2589C>G (p.Ala863=)
c.2562C>G (p.Ala854=)
c.2508C>G (p.Ala836=)
c.2481C>G (p.Ala827=)
c.2466C>G (p.Ala822=)
c.2073C>G (p.Ala691=)
c.2535C>G (p.Ala845=)
c.2472C>G (p.Ala824=)
c.2469C>G (p.Ala823=)
c.2427C>G (p.Ala809=)
c.1500C>G (p.Ala500=)
 dbSNP gnomAD v4
20g.63406779G=CA2374774244KCNQ2c.2538C= (p.Ala846=)
c.2484C= (p.Ala828=)
c.1881C= (p.Ala627=)
c.2391C= (p.Ala797=)
c.2052C= (p.Ala684=)
c.2400C= (p.Ala800=)
c.2241+267C= (n.2241+267C=)
c.2205+267C= (n.2205+267C=)
c.2430C= (p.Ala810=)
c.2133+267C= (n.2133+267C=)
c.1680-5936C= (n.1680-5936C=)
c.2526C= (p.Ala842=)
c.2592C= (p.Ala864=)
c.2589C= (p.Ala863=)
c.2562C= (p.Ala854=)
c.2508C= (p.Ala836=)
c.2481C= (p.Ala827=)
c.2466C= (p.Ala822=)
c.2073C= (p.Ala691=)
c.2535C= (p.Ala845=)
c.2472C= (p.Ala824=)
c.2469C= (p.Ala823=)
c.2427C= (p.Ala809=)
c.1500C= (p.Ala500=)
20g.63406779G>TCA511339277KCNQ2c.2538C>A (p.Ala846=)
c.2484C>A (p.Ala828=)
c.1881C>A (p.Ala627=)
c.2391C>A (p.Ala797=)
c.2052C>A (p.Ala684=)
c.2400C>A (p.Ala800=)
c.2241+267C>A (n.2241+267C>A)
c.2205+267C>A (n.2205+267C>A)
c.2430C>A (p.Ala810=)
c.2133+267C>A (n.2133+267C>A)
c.1680-5936C>A (n.1680-5936C>A)
c.2526C>A (p.Ala842=)
c.2592C>A (p.Ala864=)
c.2589C>A (p.Ala863=)
c.2562C>A (p.Ala854=)
c.2508C>A (p.Ala836=)
c.2481C>A (p.Ala827=)
c.2466C>A (p.Ala822=)
c.2073C>A (p.Ala691=)
c.2535C>A (p.Ala845=)
c.2472C>A (p.Ala824=)
c.2469C>A (p.Ala823=)
c.2427C>A (p.Ala809=)
c.1500C>A (p.Ala500=)
20g.63406780G>ACA409636884KCNQ2c.2537C>T (p.Ala846Val)
c.2483C>T (p.Ala828Val)
c.1880C>T (p.Ala627Val)
c.2390C>T (p.Ala797Val)
c.2051C>T (p.Ala684Val)
c.2399C>T (p.Ala800Val)
c.2241+266C>T (n.2241+266C>T)
c.2205+266C>T (n.2205+266C>T)
c.2429C>T (p.Ala810Val)
c.2133+266C>T (n.2133+266C>T)
c.1680-5937C>T (n.1680-5937C>T)
c.2525C>T (p.Ala842Val)
c.2591C>T (p.Ala864Val)
c.2588C>T (p.Ala863Val)
c.2561C>T (p.Ala854Val)
c.2507C>T (p.Ala836Val)
c.2480C>T (p.Ala827Val)
c.2465C>T (p.Ala822Val)
c.2072C>T (p.Ala691Val)
c.2534C>T (p.Ala845Val)
c.2471C>T (p.Ala824Val)
c.2468C>T (p.Ala823Val)
c.2426C>T (p.Ala809Val)
c.1499C>T (p.Ala500Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63406780G>CCA409636887KCNQ2c.2537C>G (p.Ala846Gly)
c.2483C>G (p.Ala828Gly)
c.1880C>G (p.Ala627Gly)
c.2390C>G (p.Ala797Gly)
c.2051C>G (p.Ala684Gly)
c.2399C>G (p.Ala800Gly)
c.2241+266C>G (n.2241+266C>G)
c.2205+266C>G (n.2205+266C>G)
c.2429C>G (p.Ala810Gly)
c.2133+266C>G (n.2133+266C>G)
c.1680-5937C>G (n.1680-5937C>G)
c.2525C>G (p.Ala842Gly)
c.2591C>G (p.Ala864Gly)
c.2588C>G (p.Ala863Gly)
c.2561C>G (p.Ala854Gly)
c.2507C>G (p.Ala836Gly)
c.2480C>G (p.Ala827Gly)
c.2465C>G (p.Ala822Gly)
c.2072C>G (p.Ala691Gly)
c.2534C>G (p.Ala845Gly)
c.2471C>G (p.Ala824Gly)
c.2468C>G (p.Ala823Gly)
c.2426C>G (p.Ala809Gly)
c.1499C>G (p.Ala500Gly)
20g.63406780G=CA2374774245KCNQ2c.2537C= (p.Ala846=)
c.2483C= (p.Ala828=)
c.1880C= (p.Ala627=)
c.2390C= (p.Ala797=)
c.2051C= (p.Ala684=)
c.2399C= (p.Ala800=)
c.2241+266C= (n.2241+266C=)
c.2205+266C= (n.2205+266C=)
c.2429C= (p.Ala810=)
c.2133+266C= (n.2133+266C=)
c.1680-5937C= (n.1680-5937C=)
c.2525C= (p.Ala842=)
c.2591C= (p.Ala864=)
c.2588C= (p.Ala863=)
c.2561C= (p.Ala854=)
c.2507C= (p.Ala836=)
c.2480C= (p.Ala827=)
c.2465C= (p.Ala822=)
c.2072C= (p.Ala691=)
c.2534C= (p.Ala845=)
c.2471C= (p.Ala824=)
c.2468C= (p.Ala823=)
c.2426C= (p.Ala809=)
c.1499C= (p.Ala500=)
20g.63406780G>TCA409636886KCNQ2c.2537C>A (p.Ala846Asp)
c.2483C>A (p.Ala828Asp)
c.1880C>A (p.Ala627Asp)
c.2390C>A (p.Ala797Asp)
c.2051C>A (p.Ala684Asp)
c.2399C>A (p.Ala800Asp)
c.2241+266C>A (n.2241+266C>A)
c.2205+266C>A (n.2205+266C>A)
c.2429C>A (p.Ala810Asp)
c.2133+266C>A (n.2133+266C>A)
c.1680-5937C>A (n.1680-5937C>A)
c.2525C>A (p.Ala842Asp)
c.2591C>A (p.Ala864Asp)
c.2588C>A (p.Ala863Asp)
c.2561C>A (p.Ala854Asp)
c.2507C>A (p.Ala836Asp)
c.2480C>A (p.Ala827Asp)
c.2465C>A (p.Ala822Asp)
c.2072C>A (p.Ala691Asp)
c.2534C>A (p.Ala845Asp)
c.2471C>A (p.Ala824Asp)
c.2468C>A (p.Ala823Asp)
c.2426C>A (p.Ala809Asp)
c.1499C>A (p.Ala500Asp)
20g.63406781C>ACA409636889KCNQ2c.2536G>T (p.Ala846Ser)
c.2482G>T (p.Ala828Ser)
c.1879G>T (p.Ala627Ser)
c.2389G>T (p.Ala797Ser)
c.2050G>T (p.Ala684Ser)
c.2398G>T (p.Ala800Ser)
c.2241+265G>T (n.2241+265G>T)
c.2205+265G>T (n.2205+265G>T)
c.2428G>T (p.Ala810Ser)
c.2133+265G>T (n.2133+265G>T)
c.1680-5938G>T (n.1680-5938G>T)
c.2524G>T (p.Ala842Ser)
c.2590G>T (p.Ala864Ser)
c.2587G>T (p.Ala863Ser)
c.2560G>T (p.Ala854Ser)
c.2506G>T (p.Ala836Ser)
c.2479G>T (p.Ala827Ser)
c.2464G>T (p.Ala822Ser)
c.2071G>T (p.Ala691Ser)
c.2533G>T (p.Ala845Ser)
c.2470G>T (p.Ala824Ser)
c.2467G>T (p.Ala823Ser)
c.2425G>T (p.Ala809Ser)
c.1498G>T (p.Ala500Ser)
20g.63406781C>GCA409636890KCNQ2c.2536G>C (p.Ala846Pro)
c.2482G>C (p.Ala828Pro)
c.1879G>C (p.Ala627Pro)
c.2389G>C (p.Ala797Pro)
c.2050G>C (p.Ala684Pro)
c.2398G>C (p.Ala800Pro)
c.2241+265G>C (n.2241+265G>C)
c.2205+265G>C (n.2205+265G>C)
c.2428G>C (p.Ala810Pro)
c.2133+265G>C (n.2133+265G>C)
c.1680-5938G>C (n.1680-5938G>C)
c.2524G>C (p.Ala842Pro)
c.2590G>C (p.Ala864Pro)
c.2587G>C (p.Ala863Pro)
c.2560G>C (p.Ala854Pro)
c.2506G>C (p.Ala836Pro)
c.2479G>C (p.Ala827Pro)
c.2464G>C (p.Ala822Pro)
c.2071G>C (p.Ala691Pro)
c.2533G>C (p.Ala845Pro)
c.2470G>C (p.Ala824Pro)
c.2467G>C (p.Ala823Pro)
c.2425G>C (p.Ala809Pro)
c.1498G>C (p.Ala500Pro)
20g.63406781C>TCA409636892KCNQ2c.2536G>A (p.Ala846Thr)
c.2482G>A (p.Ala828Thr)
c.1879G>A (p.Ala627Thr)
c.2389G>A (p.Ala797Thr)
c.2050G>A (p.Ala684Thr)
c.2398G>A (p.Ala800Thr)
c.2241+265G>A (n.2241+265G>A)
c.2205+265G>A (n.2205+265G>A)
c.2428G>A (p.Ala810Thr)
c.2133+265G>A (n.2133+265G>A)
c.1680-5938G>A (n.1680-5938G>A)
c.2524G>A (p.Ala842Thr)
c.2590G>A (p.Ala864Thr)
c.2587G>A (p.Ala863Thr)
c.2560G>A (p.Ala854Thr)
c.2506G>A (p.Ala836Thr)
c.2479G>A (p.Ala827Thr)
c.2464G>A (p.Ala822Thr)
c.2071G>A (p.Ala691Thr)
c.2533G>A (p.Ala845Thr)
c.2470G>A (p.Ala824Thr)
c.2467G>A (p.Ala823Thr)
c.2425G>A (p.Ala809Thr)
c.1498G>A (p.Ala500Thr)
20g.63406782A=CA2374774246KCNQ2c.2535T= (p.Cys845=)
c.2481T= (p.Cys827=)
c.1878T= (p.Cys626=)
c.2388T= (p.Cys796=)
c.2049T= (p.Cys683=)
c.2397T= (p.Cys799=)
c.2241+264T= (n.2241+264T=)
c.2205+264T= (n.2205+264T=)
c.2427T= (p.Cys809=)
c.2133+264T= (n.2133+264T=)
c.1680-5939T= (n.1680-5939T=)
c.2523T= (p.Cys841=)
c.2589T= (p.Cys863=)
c.2586T= (p.Cys862=)
c.2559T= (p.Cys853=)
c.2505T= (p.Cys835=)
c.2478T= (p.Cys826=)
c.2463T= (p.Cys821=)
c.2070T= (p.Cys690=)
c.2532T= (p.Cys844=)
c.2469T= (p.Cys823=)
c.2466T= (p.Cys822=)
c.2424T= (p.Cys808=)
c.1497T= (p.Cys499=)
20g.63406782A>CCA409636895KCNQ2c.2535T>G (p.Cys845Trp)
c.2481T>G (p.Cys827Trp)
c.1878T>G (p.Cys626Trp)
c.2388T>G (p.Cys796Trp)
c.2049T>G (p.Cys683Trp)
c.2397T>G (p.Cys799Trp)
c.2241+264T>G (n.2241+264T>G)
c.2205+264T>G (n.2205+264T>G)
c.2427T>G (p.Cys809Trp)
c.2133+264T>G (n.2133+264T>G)
c.1680-5939T>G (n.1680-5939T>G)
c.2523T>G (p.Cys841Trp)
c.2589T>G (p.Cys863Trp)
c.2586T>G (p.Cys862Trp)
c.2559T>G (p.Cys853Trp)
c.2505T>G (p.Cys835Trp)
c.2478T>G (p.Cys826Trp)
c.2463T>G (p.Cys821Trp)
c.2070T>G (p.Cys690Trp)
c.2532T>G (p.Cys844Trp)
c.2469T>G (p.Cys823Trp)
c.2466T>G (p.Cys822Trp)
c.2424T>G (p.Cys808Trp)
c.1497T>G (p.Cys499Trp)
20g.63406782A>GCA9958069KCNQ2c.2535T>C (p.Cys845=)
c.2481T>C (p.Cys827=)
c.1878T>C (p.Cys626=)
c.2388T>C (p.Cys796=)
c.2049T>C (p.Cys683=)
c.2397T>C (p.Cys799=)
c.2241+264T>C (n.2241+264T>C)
c.2205+264T>C (n.2205+264T>C)
c.2427T>C (p.Cys809=)
c.2133+264T>C (n.2133+264T>C)
c.1680-5939T>C (n.1680-5939T>C)
c.2523T>C (p.Cys841=)
c.2589T>C (p.Cys863=)
c.2586T>C (p.Cys862=)
c.2559T>C (p.Cys853=)
c.2505T>C (p.Cys835=)
c.2478T>C (p.Cys826=)
c.2463T>C (p.Cys821=)
c.2070T>C (p.Cys690=)
c.2532T>C (p.Cys844=)
c.2469T>C (p.Cys823=)
c.2466T>C (p.Cys822=)
c.2424T>C (p.Cys808=)
c.1497T>C (p.Cys499=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406782A>TCA409636896KCNQ2c.2535T>A (p.Cys845Ter)
c.2481T>A (p.Cys827Ter)
c.1878T>A (p.Cys626Ter)
c.2388T>A (p.Cys796Ter)
c.2049T>A (p.Cys683Ter)
c.2397T>A (p.Cys799Ter)
c.2241+264T>A (n.2241+264T>A)
c.2205+264T>A (n.2205+264T>A)
c.2427T>A (p.Cys809Ter)
c.2133+264T>A (n.2133+264T>A)
c.1680-5939T>A (n.1680-5939T>A)
c.2523T>A (p.Cys841Ter)
c.2589T>A (p.Cys863Ter)
c.2586T>A (p.Cys862Ter)
c.2559T>A (p.Cys853Ter)
c.2505T>A (p.Cys835Ter)
c.2478T>A (p.Cys826Ter)
c.2463T>A (p.Cys821Ter)
c.2070T>A (p.Cys690Ter)
c.2532T>A (p.Cys844Ter)
c.2469T>A (p.Cys823Ter)
c.2466T>A (p.Cys822Ter)
c.2424T>A (p.Cys808Ter)
c.1497T>A (p.Cys499Ter)
20g.63406783C>ACA409636899KCNQ2c.2534G>T (p.Cys845Phe)
c.2480G>T (p.Cys827Phe)
c.1877G>T (p.Cys626Phe)
c.2387G>T (p.Cys796Phe)
c.2048G>T (p.Cys683Phe)
c.2396G>T (p.Cys799Phe)
c.2241+263G>T (n.2241+263G>T)
c.2205+263G>T (n.2205+263G>T)
c.2426G>T (p.Cys809Phe)
c.2133+263G>T (n.2133+263G>T)
c.1680-5940G>T (n.1680-5940G>T)
c.2522G>T (p.Cys841Phe)
c.2588G>T (p.Cys863Phe)
c.2585G>T (p.Cys862Phe)
c.2558G>T (p.Cys853Phe)
c.2504G>T (p.Cys835Phe)
c.2477G>T (p.Cys826Phe)
c.2462G>T (p.Cys821Phe)
c.2069G>T (p.Cys690Phe)
c.2531G>T (p.Cys844Phe)
c.2468G>T (p.Cys823Phe)
c.2465G>T (p.Cys822Phe)
c.2423G>T (p.Cys808Phe)
c.1496G>T (p.Cys499Phe)
 ClinVar dbSNP
20g.63406783C>GCA409636900KCNQ2c.2534G>C (p.Cys845Ser)
c.2480G>C (p.Cys827Ser)
c.1877G>C (p.Cys626Ser)
c.2387G>C (p.Cys796Ser)
c.2048G>C (p.Cys683Ser)
c.2396G>C (p.Cys799Ser)
c.2241+263G>C (n.2241+263G>C)
c.2205+263G>C (n.2205+263G>C)
c.2426G>C (p.Cys809Ser)
c.2133+263G>C (n.2133+263G>C)
c.1680-5940G>C (n.1680-5940G>C)
c.2522G>C (p.Cys841Ser)
c.2588G>C (p.Cys863Ser)
c.2585G>C (p.Cys862Ser)
c.2558G>C (p.Cys853Ser)
c.2504G>C (p.Cys835Ser)
c.2477G>C (p.Cys826Ser)
c.2462G>C (p.Cys821Ser)
c.2069G>C (p.Cys690Ser)
c.2531G>C (p.Cys844Ser)
c.2468G>C (p.Cys823Ser)
c.2465G>C (p.Cys822Ser)
c.2423G>C (p.Cys808Ser)
c.1496G>C (p.Cys499Ser)
20g.63406783C>TCA409636902KCNQ2c.2534G>A (p.Cys845Tyr)
c.2480G>A (p.Cys827Tyr)
c.1877G>A (p.Cys626Tyr)
c.2387G>A (p.Cys796Tyr)
c.2048G>A (p.Cys683Tyr)
c.2396G>A (p.Cys799Tyr)
c.2241+263G>A (n.2241+263G>A)
c.2205+263G>A (n.2205+263G>A)
c.2426G>A (p.Cys809Tyr)
c.2133+263G>A (n.2133+263G>A)
c.1680-5940G>A (n.1680-5940G>A)
c.2522G>A (p.Cys841Tyr)
c.2588G>A (p.Cys863Tyr)
c.2585G>A (p.Cys862Tyr)
c.2558G>A (p.Cys853Tyr)
c.2504G>A (p.Cys835Tyr)
c.2477G>A (p.Cys826Tyr)
c.2462G>A (p.Cys821Tyr)
c.2069G>A (p.Cys690Tyr)
c.2531G>A (p.Cys844Tyr)
c.2468G>A (p.Cys823Tyr)
c.2465G>A (p.Cys822Tyr)
c.2423G>A (p.Cys808Tyr)
c.1496G>A (p.Cys499Tyr)
 gnomAD v4
20g.63406784A>CCA409636904KCNQ2c.2533T>G (p.Cys845Gly)
c.2479T>G (p.Cys827Gly)
c.1876T>G (p.Cys626Gly)
c.2386T>G (p.Cys796Gly)
c.2047T>G (p.Cys683Gly)
c.2395T>G (p.Cys799Gly)
c.2241+262T>G (n.2241+262T>G)
c.2205+262T>G (n.2205+262T>G)
c.2425T>G (p.Cys809Gly)
c.2133+262T>G (n.2133+262T>G)
c.1680-5941T>G (n.1680-5941T>G)
c.2521T>G (p.Cys841Gly)
c.2587T>G (p.Cys863Gly)
c.2584T>G (p.Cys862Gly)
c.2557T>G (p.Cys853Gly)
c.2503T>G (p.Cys835Gly)
c.2476T>G (p.Cys826Gly)
c.2461T>G (p.Cys821Gly)
c.2068T>G (p.Cys690Gly)
c.2530T>G (p.Cys844Gly)
c.2467T>G (p.Cys823Gly)
c.2464T>G (p.Cys822Gly)
c.2422T>G (p.Cys808Gly)
c.1495T>G (p.Cys499Gly)
20g.63406784A>GCA409636905KCNQ2c.2533T>C (p.Cys845Arg)
c.2479T>C (p.Cys827Arg)
c.1876T>C (p.Cys626Arg)
c.2386T>C (p.Cys796Arg)
c.2047T>C (p.Cys683Arg)
c.2395T>C (p.Cys799Arg)
c.2241+262T>C (n.2241+262T>C)
c.2205+262T>C (n.2205+262T>C)
c.2425T>C (p.Cys809Arg)
c.2133+262T>C (n.2133+262T>C)
c.1680-5941T>C (n.1680-5941T>C)
c.2521T>C (p.Cys841Arg)
c.2587T>C (p.Cys863Arg)
c.2584T>C (p.Cys862Arg)
c.2557T>C (p.Cys853Arg)
c.2503T>C (p.Cys835Arg)
c.2476T>C (p.Cys826Arg)
c.2461T>C (p.Cys821Arg)
c.2068T>C (p.Cys690Arg)
c.2530T>C (p.Cys844Arg)
c.2467T>C (p.Cys823Arg)
c.2464T>C (p.Cys822Arg)
c.2422T>C (p.Cys808Arg)
c.1495T>C (p.Cys499Arg)
 ClinVar dbSNP
20g.63406784A>TCA409636907KCNQ2c.2533T>A (p.Cys845Ser)
c.2479T>A (p.Cys827Ser)
c.1876T>A (p.Cys626Ser)
c.2386T>A (p.Cys796Ser)
c.2047T>A (p.Cys683Ser)
c.2395T>A (p.Cys799Ser)
c.2241+262T>A (n.2241+262T>A)
c.2205+262T>A (n.2205+262T>A)
c.2425T>A (p.Cys809Ser)
c.2133+262T>A (n.2133+262T>A)
c.1680-5941T>A (n.1680-5941T>A)
c.2521T>A (p.Cys841Ser)
c.2587T>A (p.Cys863Ser)
c.2584T>A (p.Cys862Ser)
c.2557T>A (p.Cys853Ser)
c.2503T>A (p.Cys835Ser)
c.2476T>A (p.Cys826Ser)
c.2461T>A (p.Cys821Ser)
c.2068T>A (p.Cys690Ser)
c.2530T>A (p.Cys844Ser)
c.2467T>A (p.Cys823Ser)
c.2464T>A (p.Cys822Ser)
c.2422T>A (p.Cys808Ser)
c.1495T>A (p.Cys499Ser)
20g.63406785A>CCA511339288KCNQ2c.2532T>G (p.Pro844=)
c.2478T>G (p.Pro826=)
c.1875T>G (p.Pro625=)
c.2385T>G (p.Pro795=)
c.2046T>G (p.Pro682=)
c.2394T>G (p.Pro798=)
c.2241+261T>G (n.2241+261T>G)
c.2205+261T>G (n.2205+261T>G)
c.2424T>G (p.Pro808=)
c.2133+261T>G (n.2133+261T>G)
c.1680-5942T>G (n.1680-5942T>G)
c.2520T>G (p.Pro840=)
c.2586T>G (p.Pro862=)
c.2583T>G (p.Pro861=)
c.2556T>G (p.Pro852=)
c.2502T>G (p.Pro834=)
c.2475T>G (p.Pro825=)
c.2460T>G (p.Pro820=)
c.2067T>G (p.Pro689=)
c.2529T>G (p.Pro843=)
c.2466T>G (p.Pro822=)
c.2463T>G (p.Pro821=)
c.2421T>G (p.Pro807=)
c.1494T>G (p.Pro498=)
20g.63406785A>GCA511339290KCNQ2c.2532T>C (p.Pro844=)
c.2478T>C (p.Pro826=)
c.1875T>C (p.Pro625=)
c.2385T>C (p.Pro795=)
c.2046T>C (p.Pro682=)
c.2394T>C (p.Pro798=)
c.2241+261T>C (n.2241+261T>C)
c.2205+261T>C (n.2205+261T>C)
c.2424T>C (p.Pro808=)
c.2133+261T>C (n.2133+261T>C)
c.1680-5942T>C (n.1680-5942T>C)
c.2520T>C (p.Pro840=)
c.2586T>C (p.Pro862=)
c.2583T>C (p.Pro861=)
c.2556T>C (p.Pro852=)
c.2502T>C (p.Pro834=)
c.2475T>C (p.Pro825=)
c.2460T>C (p.Pro820=)
c.2067T>C (p.Pro689=)
c.2529T>C (p.Pro843=)
c.2466T>C (p.Pro822=)
c.2463T>C (p.Pro821=)
c.2421T>C (p.Pro807=)
c.1494T>C (p.Pro498=)
 dbSNP
20g.63406785A>TCA511339292KCNQ2c.2532T>A (p.Pro844=)
c.2478T>A (p.Pro826=)
c.1875T>A (p.Pro625=)
c.2385T>A (p.Pro795=)
c.2046T>A (p.Pro682=)
c.2394T>A (p.Pro798=)
c.2241+261T>A (n.2241+261T>A)
c.2205+261T>A (n.2205+261T>A)
c.2424T>A (p.Pro808=)
c.2133+261T>A (n.2133+261T>A)
c.1680-5942T>A (n.1680-5942T>A)
c.2520T>A (p.Pro840=)
c.2586T>A (p.Pro862=)
c.2583T>A (p.Pro861=)
c.2556T>A (p.Pro852=)
c.2502T>A (p.Pro834=)
c.2475T>A (p.Pro825=)
c.2460T>A (p.Pro820=)
c.2067T>A (p.Pro689=)
c.2529T>A (p.Pro843=)
c.2466T>A (p.Pro822=)
c.2463T>A (p.Pro821=)
c.2421T>A (p.Pro807=)
c.1494T>A (p.Pro498=)
20g.63406786G>ACA409636912KCNQ2c.2531C>T (p.Pro844Leu)
c.2477C>T (p.Pro826Leu)
c.1874C>T (p.Pro625Leu)
c.2384C>T (p.Pro795Leu)
c.2045C>T (p.Pro682Leu)
c.2393C>T (p.Pro798Leu)
c.2241+260C>T (n.2241+260C>T)
c.2205+260C>T (n.2205+260C>T)
c.2423C>T (p.Pro808Leu)
c.2133+260C>T (n.2133+260C>T)
c.1680-5943C>T (n.1680-5943C>T)
c.2519C>T (p.Pro840Leu)
c.2585C>T (p.Pro862Leu)
c.2582C>T (p.Pro861Leu)
c.2555C>T (p.Pro852Leu)
c.2501C>T (p.Pro834Leu)
c.2474C>T (p.Pro825Leu)
c.2459C>T (p.Pro820Leu)
c.2066C>T (p.Pro689Leu)
c.2528C>T (p.Pro843Leu)
c.2465C>T (p.Pro822Leu)
c.2462C>T (p.Pro821Leu)
c.2420C>T (p.Pro807Leu)
c.1493C>T (p.Pro498Leu)
20g.63406786G>CCA409636910KCNQ2c.2531C>G (p.Pro844Arg)
c.2477C>G (p.Pro826Arg)
c.1874C>G (p.Pro625Arg)
c.2384C>G (p.Pro795Arg)
c.2045C>G (p.Pro682Arg)
c.2393C>G (p.Pro798Arg)
c.2241+260C>G (n.2241+260C>G)
c.2205+260C>G (n.2205+260C>G)
c.2423C>G (p.Pro808Arg)
c.2133+260C>G (n.2133+260C>G)
c.1680-5943C>G (n.1680-5943C>G)
c.2519C>G (p.Pro840Arg)
c.2585C>G (p.Pro862Arg)
c.2582C>G (p.Pro861Arg)
c.2555C>G (p.Pro852Arg)
c.2501C>G (p.Pro834Arg)
c.2474C>G (p.Pro825Arg)
c.2459C>G (p.Pro820Arg)
c.2066C>G (p.Pro689Arg)
c.2528C>G (p.Pro843Arg)
c.2465C>G (p.Pro822Arg)
c.2462C>G (p.Pro821Arg)
c.2420C>G (p.Pro807Arg)
c.1493C>G (p.Pro498Arg)
 ClinVar dbSNP
20g.63406786G>TCA409636909KCNQ2c.2531C>A (p.Pro844His)
c.2477C>A (p.Pro826His)
c.1874C>A (p.Pro625His)
c.2384C>A (p.Pro795His)
c.2045C>A (p.Pro682His)
c.2393C>A (p.Pro798His)
c.2241+260C>A (n.2241+260C>A)
c.2205+260C>A (n.2205+260C>A)
c.2423C>A (p.Pro808His)
c.2133+260C>A (n.2133+260C>A)
c.1680-5943C>A (n.1680-5943C>A)
c.2519C>A (p.Pro840His)
c.2585C>A (p.Pro862His)
c.2582C>A (p.Pro861His)
c.2555C>A (p.Pro852His)
c.2501C>A (p.Pro834His)
c.2474C>A (p.Pro825His)
c.2459C>A (p.Pro820His)
c.2066C>A (p.Pro689His)
c.2528C>A (p.Pro843His)
c.2465C>A (p.Pro822His)
c.2462C>A (p.Pro821His)
c.2420C>A (p.Pro807His)
c.1493C>A (p.Pro498His)
 COSMIC COSMIC COSMIC
20g.63406787G>ACA409636914KCNQ2c.2530C>T (p.Pro844Ser)
c.2476C>T (p.Pro826Ser)
c.1873C>T (p.Pro625Ser)
c.2383C>T (p.Pro795Ser)
c.2044C>T (p.Pro682Ser)
c.2392C>T (p.Pro798Ser)
c.2241+259C>T (n.2241+259C>T)
c.2205+259C>T (n.2205+259C>T)
c.2422C>T (p.Pro808Ser)
c.2133+259C>T (n.2133+259C>T)
c.1680-5944C>T (n.1680-5944C>T)
c.2518C>T (p.Pro840Ser)
c.2584C>T (p.Pro862Ser)
c.2581C>T (p.Pro861Ser)
c.2554C>T (p.Pro852Ser)
c.2500C>T (p.Pro834Ser)
c.2473C>T (p.Pro825Ser)
c.2458C>T (p.Pro820Ser)
c.2065C>T (p.Pro689Ser)
c.2527C>T (p.Pro843Ser)
c.2464C>T (p.Pro822Ser)
c.2461C>T (p.Pro821Ser)
c.2419C>T (p.Pro807Ser)
c.1492C>T (p.Pro498Ser)
20g.63406787G>CCA409636916KCNQ2c.2530C>G (p.Pro844Ala)
c.2476C>G (p.Pro826Ala)
c.1873C>G (p.Pro625Ala)
c.2383C>G (p.Pro795Ala)
c.2044C>G (p.Pro682Ala)
c.2392C>G (p.Pro798Ala)
c.2241+259C>G (n.2241+259C>G)
c.2205+259C>G (n.2205+259C>G)
c.2422C>G (p.Pro808Ala)
c.2133+259C>G (n.2133+259C>G)
c.1680-5944C>G (n.1680-5944C>G)
c.2518C>G (p.Pro840Ala)
c.2584C>G (p.Pro862Ala)
c.2581C>G (p.Pro861Ala)
c.2554C>G (p.Pro852Ala)
c.2500C>G (p.Pro834Ala)
c.2473C>G (p.Pro825Ala)
c.2458C>G (p.Pro820Ala)
c.2065C>G (p.Pro689Ala)
c.2527C>G (p.Pro843Ala)
c.2464C>G (p.Pro822Ala)
c.2461C>G (p.Pro821Ala)
c.2419C>G (p.Pro807Ala)
c.1492C>G (p.Pro498Ala)
20g.63406787G>TCA409636918KCNQ2c.2530C>A (p.Pro844Thr)
c.2476C>A (p.Pro826Thr)
c.1873C>A (p.Pro625Thr)
c.2383C>A (p.Pro795Thr)
c.2044C>A (p.Pro682Thr)
c.2392C>A (p.Pro798Thr)
c.2241+259C>A (n.2241+259C>A)
c.2205+259C>A (n.2205+259C>A)
c.2422C>A (p.Pro808Thr)
c.2133+259C>A (n.2133+259C>A)
c.1680-5944C>A (n.1680-5944C>A)
c.2518C>A (p.Pro840Thr)
c.2584C>A (p.Pro862Thr)
c.2581C>A (p.Pro861Thr)
c.2554C>A (p.Pro852Thr)
c.2500C>A (p.Pro834Thr)
c.2473C>A (p.Pro825Thr)
c.2458C>A (p.Pro820Thr)
c.2065C>A (p.Pro689Thr)
c.2527C>A (p.Pro843Thr)
c.2464C>A (p.Pro822Thr)
c.2461C>A (p.Pro821Thr)
c.2419C>A (p.Pro807Thr)
c.1492C>A (p.Pro498Thr)
 gnomAD v4
20g.63406788C>ACA511339299KCNQ2c.2529G>T (p.Ala843=)
c.2475G>T (p.Ala825=)
c.1872G>T (p.Ala624=)
c.2382G>T (p.Ala794=)
c.2043G>T (p.Ala681=)
c.2391G>T (p.Ala797=)
c.2241+258G>T (n.2241+258G>T)
c.2205+258G>T (n.2205+258G>T)
c.2421G>T (p.Ala807=)
c.2133+258G>T (n.2133+258G>T)
c.1680-5945G>T (n.1680-5945G>T)
c.2517G>T (p.Ala839=)
c.2583G>T (p.Ala861=)
c.2580G>T (p.Ala860=)
c.2553G>T (p.Ala851=)
c.2499G>T (p.Ala833=)
c.2472G>T (p.Ala824=)
c.2457G>T (p.Ala819=)
c.2064G>T (p.Ala688=)
c.2526G>T (p.Ala842=)
c.2463G>T (p.Ala821=)
c.2460G>T (p.Ala820=)
c.2418G>T (p.Ala806=)
c.1491G>T (p.Ala497=)
20g.63406788C=CA2374774247KCNQ2c.2529G= (p.Ala843=)
c.2475G= (p.Ala825=)
c.1872G= (p.Ala624=)
c.2382G= (p.Ala794=)
c.2043G= (p.Ala681=)
c.2391G= (p.Ala797=)
c.2241+258G= (n.2241+258G=)
c.2205+258G= (n.2205+258G=)
c.2421G= (p.Ala807=)
c.2133+258G= (n.2133+258G=)
c.1680-5945G= (n.1680-5945G=)
c.2517G= (p.Ala839=)
c.2583G= (p.Ala861=)
c.2580G= (p.Ala860=)
c.2553G= (p.Ala851=)
c.2499G= (p.Ala833=)
c.2472G= (p.Ala824=)
c.2457G= (p.Ala819=)
c.2064G= (p.Ala688=)
c.2526G= (p.Ala842=)
c.2463G= (p.Ala821=)
c.2460G= (p.Ala820=)
c.2418G= (p.Ala806=)
c.1491G= (p.Ala497=)
20g.63406788C>GCA511339295KCNQ2c.2529G>C (p.Ala843=)
c.2475G>C (p.Ala825=)
c.1872G>C (p.Ala624=)
c.2382G>C (p.Ala794=)
c.2043G>C (p.Ala681=)
c.2391G>C (p.Ala797=)
c.2241+258G>C (n.2241+258G>C)
c.2205+258G>C (n.2205+258G>C)
c.2421G>C (p.Ala807=)
c.2133+258G>C (n.2133+258G>C)
c.1680-5945G>C (n.1680-5945G>C)
c.2517G>C (p.Ala839=)
c.2583G>C (p.Ala861=)
c.2580G>C (p.Ala860=)
c.2553G>C (p.Ala851=)
c.2499G>C (p.Ala833=)
c.2472G>C (p.Ala824=)
c.2457G>C (p.Ala819=)
c.2064G>C (p.Ala688=)
c.2526G>C (p.Ala842=)
c.2463G>C (p.Ala821=)
c.2460G>C (p.Ala820=)
c.2418G>C (p.Ala806=)
c.1491G>C (p.Ala497=)
20g.63406788C>TCA511339298KCNQ2c.2529G>A (p.Ala843=)
c.2475G>A (p.Ala825=)
c.1872G>A (p.Ala624=)
c.2382G>A (p.Ala794=)
c.2043G>A (p.Ala681=)
c.2391G>A (p.Ala797=)
c.2241+258G>A (n.2241+258G>A)
c.2205+258G>A (n.2205+258G>A)
c.2421G>A (p.Ala807=)
c.2133+258G>A (n.2133+258G>A)
c.1680-5945G>A (n.1680-5945G>A)
c.2517G>A (p.Ala839=)
c.2583G>A (p.Ala861=)
c.2580G>A (p.Ala860=)
c.2553G>A (p.Ala851=)
c.2499G>A (p.Ala833=)
c.2472G>A (p.Ala824=)
c.2457G>A (p.Ala819=)
c.2064G>A (p.Ala688=)
c.2526G>A (p.Ala842=)
c.2463G>A (p.Ala821=)
c.2460G>A (p.Ala820=)
c.2418G>A (p.Ala806=)
c.1491G>A (p.Ala497=)
 ClinVar dbSNP gnomAD v4
20g.63406789G>ACA409636920KCNQ2c.2528C>T (p.Ala843Val)
c.2474C>T (p.Ala825Val)
c.1871C>T (p.Ala624Val)
c.2381C>T (p.Ala794Val)
c.2042C>T (p.Ala681Val)
c.2390C>T (p.Ala797Val)
c.2241+257C>T (n.2241+257C>T)
c.2205+257C>T (n.2205+257C>T)
c.2420C>T (p.Ala807Val)
c.2133+257C>T (n.2133+257C>T)
c.1680-5946C>T (n.1680-5946C>T)
c.2516C>T (p.Ala839Val)
c.2582C>T (p.Ala861Val)
c.2579C>T (p.Ala860Val)
c.2552C>T (p.Ala851Val)
c.2498C>T (p.Ala833Val)
c.2471C>T (p.Ala824Val)
c.2456C>T (p.Ala819Val)
c.2063C>T (p.Ala688Val)
c.2525C>T (p.Ala842Val)
c.2462C>T (p.Ala821Val)
c.2459C>T (p.Ala820Val)
c.2417C>T (p.Ala806Val)
c.1490C>T (p.Ala497Val)
 gnomAD v4
20g.63406789G>CCA409636921KCNQ2c.2528C>G (p.Ala843Gly)
c.2474C>G (p.Ala825Gly)
c.1871C>G (p.Ala624Gly)
c.2381C>G (p.Ala794Gly)
c.2042C>G (p.Ala681Gly)
c.2390C>G (p.Ala797Gly)
c.2241+257C>G (n.2241+257C>G)
c.2205+257C>G (n.2205+257C>G)
c.2420C>G (p.Ala807Gly)
c.2133+257C>G (n.2133+257C>G)
c.1680-5946C>G (n.1680-5946C>G)
c.2516C>G (p.Ala839Gly)
c.2582C>G (p.Ala861Gly)
c.2579C>G (p.Ala860Gly)
c.2552C>G (p.Ala851Gly)
c.2498C>G (p.Ala833Gly)
c.2471C>G (p.Ala824Gly)
c.2456C>G (p.Ala819Gly)
c.2063C>G (p.Ala688Gly)
c.2525C>G (p.Ala842Gly)
c.2462C>G (p.Ala821Gly)
c.2459C>G (p.Ala820Gly)
c.2417C>G (p.Ala806Gly)
c.1490C>G (p.Ala497Gly)
 ClinVar dbSNP
20g.63406789G=CA2374774248KCNQ2c.2528C= (p.Ala843=)
c.2474C= (p.Ala825=)
c.1871C= (p.Ala624=)
c.2381C= (p.Ala794=)
c.2042C= (p.Ala681=)
c.2390C= (p.Ala797=)
c.2241+257C= (n.2241+257C=)
c.2205+257C= (n.2205+257C=)
c.2420C= (p.Ala807=)
c.2133+257C= (n.2133+257C=)
c.1680-5946C= (n.1680-5946C=)
c.2516C= (p.Ala839=)
c.2582C= (p.Ala861=)
c.2579C= (p.Ala860=)
c.2552C= (p.Ala851=)
c.2498C= (p.Ala833=)
c.2471C= (p.Ala824=)
c.2456C= (p.Ala819=)
c.2063C= (p.Ala688=)
c.2525C= (p.Ala842=)
c.2462C= (p.Ala821=)
c.2459C= (p.Ala820=)
c.2417C= (p.Ala806=)
c.1490C= (p.Ala497=)
20g.63406789G>TCA409636923KCNQ2c.2528C>A (p.Ala843Glu)
c.2474C>A (p.Ala825Glu)
c.1871C>A (p.Ala624Glu)
c.2381C>A (p.Ala794Glu)
c.2042C>A (p.Ala681Glu)
c.2390C>A (p.Ala797Glu)
c.2241+257C>A (n.2241+257C>A)
c.2205+257C>A (n.2205+257C>A)
c.2420C>A (p.Ala807Glu)
c.2133+257C>A (n.2133+257C>A)
c.1680-5946C>A (n.1680-5946C>A)
c.2516C>A (p.Ala839Glu)
c.2582C>A (p.Ala861Glu)
c.2579C>A (p.Ala860Glu)
c.2552C>A (p.Ala851Glu)
c.2498C>A (p.Ala833Glu)
c.2471C>A (p.Ala824Glu)
c.2456C>A (p.Ala819Glu)
c.2063C>A (p.Ala688Glu)
c.2525C>A (p.Ala842Glu)
c.2462C>A (p.Ala821Glu)
c.2459C>A (p.Ala820Glu)
c.2417C>A (p.Ala806Glu)
c.1490C>A (p.Ala497Glu)
 COSMIC
20g.63406790C>ACA409636925KCNQ2c.2527G>T (p.Ala843Ser)
c.2473G>T (p.Ala825Ser)
c.1870G>T (p.Ala624Ser)
c.2380G>T (p.Ala794Ser)
c.2041G>T (p.Ala681Ser)
c.2389G>T (p.Ala797Ser)
c.2241+256G>T (n.2241+256G>T)
c.2205+256G>T (n.2205+256G>T)
c.2419G>T (p.Ala807Ser)
c.2133+256G>T (n.2133+256G>T)
c.1680-5947G>T (n.1680-5947G>T)
c.2515G>T (p.Ala839Ser)
c.2581G>T (p.Ala861Ser)
c.2578G>T (p.Ala860Ser)
c.2551G>T (p.Ala851Ser)
c.2497G>T (p.Ala833Ser)
c.2470G>T (p.Ala824Ser)
c.2455G>T (p.Ala819Ser)
c.2062G>T (p.Ala688Ser)
c.2524G>T (p.Ala842Ser)
c.2461G>T (p.Ala821Ser)
c.2458G>T (p.Ala820Ser)
c.2416G>T (p.Ala806Ser)
c.1489G>T (p.Ala497Ser)
20g.63406790C>GCA409636927KCNQ2c.2527G>C (p.Ala843Pro)
c.2473G>C (p.Ala825Pro)
c.1870G>C (p.Ala624Pro)
c.2380G>C (p.Ala794Pro)
c.2041G>C (p.Ala681Pro)
c.2389G>C (p.Ala797Pro)
c.2241+256G>C (n.2241+256G>C)
c.2205+256G>C (n.2205+256G>C)
c.2419G>C (p.Ala807Pro)
c.2133+256G>C (n.2133+256G>C)
c.1680-5947G>C (n.1680-5947G>C)
c.2515G>C (p.Ala839Pro)
c.2581G>C (p.Ala861Pro)
c.2578G>C (p.Ala860Pro)
c.2551G>C (p.Ala851Pro)
c.2497G>C (p.Ala833Pro)
c.2470G>C (p.Ala824Pro)
c.2455G>C (p.Ala819Pro)
c.2062G>C (p.Ala688Pro)
c.2524G>C (p.Ala842Pro)
c.2461G>C (p.Ala821Pro)
c.2458G>C (p.Ala820Pro)
c.2416G>C (p.Ala806Pro)
c.1489G>C (p.Ala497Pro)
20g.63406790C>TCA409636929KCNQ2c.2527G>A (p.Ala843Thr)
c.2473G>A (p.Ala825Thr)
c.1870G>A (p.Ala624Thr)
c.2380G>A (p.Ala794Thr)
c.2041G>A (p.Ala681Thr)
c.2389G>A (p.Ala797Thr)
c.2241+256G>A (n.2241+256G>A)
c.2205+256G>A (n.2205+256G>A)
c.2419G>A (p.Ala807Thr)
c.2133+256G>A (n.2133+256G>A)
c.1680-5947G>A (n.1680-5947G>A)
c.2515G>A (p.Ala839Thr)
c.2581G>A (p.Ala861Thr)
c.2578G>A (p.Ala860Thr)
c.2551G>A (p.Ala851Thr)
c.2497G>A (p.Ala833Thr)
c.2470G>A (p.Ala824Thr)
c.2455G>A (p.Ala819Thr)
c.2062G>A (p.Ala688Thr)
c.2524G>A (p.Ala842Thr)
c.2461G>A (p.Ala821Thr)
c.2458G>A (p.Ala820Thr)
c.2416G>A (p.Ala806Thr)
c.1489G>A (p.Ala497Thr)
20g.63406791C>ACA511339306KCNQ2c.2526G>T (p.Val842=)
c.2472G>T (p.Val824=)
c.1869G>T (p.Val623=)
c.2379G>T (p.Val793=)
c.2040G>T (p.Val680=)
c.2388G>T (p.Val796=)
c.2241+255G>T (n.2241+255G>T)
c.2205+255G>T (n.2205+255G>T)
c.2418G>T (p.Val806=)
c.2133+255G>T (n.2133+255G>T)
c.1680-5948G>T (n.1680-5948G>T)
c.2514G>T (p.Val838=)
c.2580G>T (p.Val860=)
c.2577G>T (p.Val859=)
c.2550G>T (p.Val850=)
c.2496G>T (p.Val832=)
c.2469G>T (p.Val823=)
c.2454G>T (p.Val818=)
c.2061G>T (p.Val687=)
c.2523G>T (p.Val841=)
c.2460G>T (p.Val820=)
c.2457G>T (p.Val819=)
c.2415G>T (p.Val805=)
c.1488G>T (p.Val496=)
20g.63406791C>GCA511339307KCNQ2c.2526G>C (p.Val842=)
c.2472G>C (p.Val824=)
c.1869G>C (p.Val623=)
c.2379G>C (p.Val793=)
c.2040G>C (p.Val680=)
c.2388G>C (p.Val796=)
c.2241+255G>C (n.2241+255G>C)
c.2205+255G>C (n.2205+255G>C)
c.2418G>C (p.Val806=)
c.2133+255G>C (n.2133+255G>C)
c.1680-5948G>C (n.1680-5948G>C)
c.2514G>C (p.Val838=)
c.2580G>C (p.Val860=)
c.2577G>C (p.Val859=)
c.2550G>C (p.Val850=)
c.2496G>C (p.Val832=)
c.2469G>C (p.Val823=)
c.2454G>C (p.Val818=)
c.2061G>C (p.Val687=)
c.2523G>C (p.Val841=)
c.2460G>C (p.Val820=)
c.2457G>C (p.Val819=)
c.2415G>C (p.Val805=)
c.1488G>C (p.Val496=)
20g.63406791C>TCA511339308KCNQ2c.2526G>A (p.Val842=)
c.2472G>A (p.Val824=)
c.1869G>A (p.Val623=)
c.2379G>A (p.Val793=)
c.2040G>A (p.Val680=)
c.2388G>A (p.Val796=)
c.2241+255G>A (n.2241+255G>A)
c.2205+255G>A (n.2205+255G>A)
c.2418G>A (p.Val806=)
c.2133+255G>A (n.2133+255G>A)
c.1680-5948G>A (n.1680-5948G>A)
c.2514G>A (p.Val838=)
c.2580G>A (p.Val860=)
c.2577G>A (p.Val859=)
c.2550G>A (p.Val850=)
c.2496G>A (p.Val832=)
c.2469G>A (p.Val823=)
c.2454G>A (p.Val818=)
c.2061G>A (p.Val687=)
c.2523G>A (p.Val841=)
c.2460G>A (p.Val820=)
c.2457G>A (p.Val819=)
c.2415G>A (p.Val805=)
c.1488G>A (p.Val496=)
20g.63406792A>CCA409636931KCNQ2c.2525T>G (p.Val842Gly)
c.2471T>G (p.Val824Gly)
c.1868T>G (p.Val623Gly)
c.2378T>G (p.Val793Gly)
c.2039T>G (p.Val680Gly)
c.2387T>G (p.Val796Gly)
c.2241+254T>G (n.2241+254T>G)
c.2205+254T>G (n.2205+254T>G)
c.2417T>G (p.Val806Gly)
c.2133+254T>G (n.2133+254T>G)
c.1680-5949T>G (n.1680-5949T>G)
c.2513T>G (p.Val838Gly)
c.2579T>G (p.Val860Gly)
c.2576T>G (p.Val859Gly)
c.2549T>G (p.Val850Gly)
c.2495T>G (p.Val832Gly)
c.2468T>G (p.Val823Gly)
c.2453T>G (p.Val818Gly)
c.2060T>G (p.Val687Gly)
c.2522T>G (p.Val841Gly)
c.2459T>G (p.Val820Gly)
c.2456T>G (p.Val819Gly)
c.2414T>G (p.Val805Gly)
c.1487T>G (p.Val496Gly)
20g.63406792A>GCA409636933KCNQ2c.2525T>C (p.Val842Ala)
c.2471T>C (p.Val824Ala)
c.1868T>C (p.Val623Ala)
c.2378T>C (p.Val793Ala)
c.2039T>C (p.Val680Ala)
c.2387T>C (p.Val796Ala)
c.2241+254T>C (n.2241+254T>C)
c.2205+254T>C (n.2205+254T>C)
c.2417T>C (p.Val806Ala)
c.2133+254T>C (n.2133+254T>C)
c.1680-5949T>C (n.1680-5949T>C)
c.2513T>C (p.Val838Ala)
c.2579T>C (p.Val860Ala)
c.2576T>C (p.Val859Ala)
c.2549T>C (p.Val850Ala)
c.2495T>C (p.Val832Ala)
c.2468T>C (p.Val823Ala)
c.2453T>C (p.Val818Ala)
c.2060T>C (p.Val687Ala)
c.2522T>C (p.Val841Ala)
c.2459T>C (p.Val820Ala)
c.2456T>C (p.Val819Ala)
c.2414T>C (p.Val805Ala)
c.1487T>C (p.Val496Ala)
 gnomAD v4
20g.63406792A>TCA409636935KCNQ2c.2525T>A (p.Val842Glu)
c.2471T>A (p.Val824Glu)
c.1868T>A (p.Val623Glu)
c.2378T>A (p.Val793Glu)
c.2039T>A (p.Val680Glu)
c.2387T>A (p.Val796Glu)
c.2241+254T>A (n.2241+254T>A)
c.2205+254T>A (n.2205+254T>A)
c.2417T>A (p.Val806Glu)
c.2133+254T>A (n.2133+254T>A)
c.1680-5949T>A (n.1680-5949T>A)
c.2513T>A (p.Val838Glu)
c.2579T>A (p.Val860Glu)
c.2576T>A (p.Val859Glu)
c.2549T>A (p.Val850Glu)
c.2495T>A (p.Val832Glu)
c.2468T>A (p.Val823Glu)
c.2453T>A (p.Val818Glu)
c.2060T>A (p.Val687Glu)
c.2522T>A (p.Val841Glu)
c.2459T>A (p.Val820Glu)
c.2456T>A (p.Val819Glu)
c.2414T>A (p.Val805Glu)
c.1487T>A (p.Val496Glu)
20g.63406793C>ACA409636940KCNQ2c.2524G>T (p.Val842Leu)
c.2470G>T (p.Val824Leu)
c.1867G>T (p.Val623Leu)
c.2377G>T (p.Val793Leu)
c.2038G>T (p.Val680Leu)
c.2386G>T (p.Val796Leu)
c.2241+253G>T (n.2241+253G>T)
c.2205+253G>T (n.2205+253G>T)
c.2416G>T (p.Val806Leu)
c.2133+253G>T (n.2133+253G>T)
c.1680-5950G>T (n.1680-5950G>T)
c.2512G>T (p.Val838Leu)
c.2578G>T (p.Val860Leu)
c.2575G>T (p.Val859Leu)
c.2548G>T (p.Val850Leu)
c.2494G>T (p.Val832Leu)
c.2467G>T (p.Val823Leu)
c.2452G>T (p.Val818Leu)
c.2059G>T (p.Val687Leu)
c.2521G>T (p.Val841Leu)
c.2458G>T (p.Val820Leu)
c.2455G>T (p.Val819Leu)
c.2413G>T (p.Val805Leu)
c.1486G>T (p.Val496Leu)
20g.63406793C=CA2374774249KCNQ2c.2524G= (p.Val842=)
c.2470G= (p.Val824=)
c.1867G= (p.Val623=)
c.2377G= (p.Val793=)
c.2038G= (p.Val680=)
c.2386G= (p.Val796=)
c.2241+253G= (n.2241+253G=)
c.2205+253G= (n.2205+253G=)
c.2416G= (p.Val806=)
c.2133+253G= (n.2133+253G=)
c.1680-5950G= (n.1680-5950G=)
c.2512G= (p.Val838=)
c.2578G= (p.Val860=)
c.2575G= (p.Val859=)
c.2548G= (p.Val850=)
c.2494G= (p.Val832=)
c.2467G= (p.Val823=)
c.2452G= (p.Val818=)
c.2059G= (p.Val687=)
c.2521G= (p.Val841=)
c.2458G= (p.Val820=)
c.2455G= (p.Val819=)
c.2413G= (p.Val805=)
c.1486G= (p.Val496=)
20g.63406793C>GCA9958070KCNQ2c.2524G>C (p.Val842Leu)
c.2470G>C (p.Val824Leu)
c.1867G>C (p.Val623Leu)
c.2377G>C (p.Val793Leu)
c.2038G>C (p.Val680Leu)
c.2386G>C (p.Val796Leu)
c.2241+253G>C (n.2241+253G>C)
c.2205+253G>C (n.2205+253G>C)
c.2416G>C (p.Val806Leu)
c.2133+253G>C (n.2133+253G>C)
c.1680-5950G>C (n.1680-5950G>C)
c.2512G>C (p.Val838Leu)
c.2578G>C (p.Val860Leu)
c.2575G>C (p.Val859Leu)
c.2548G>C (p.Val850Leu)
c.2494G>C (p.Val832Leu)
c.2467G>C (p.Val823Leu)
c.2452G>C (p.Val818Leu)
c.2059G>C (p.Val687Leu)
c.2521G>C (p.Val841Leu)
c.2458G>C (p.Val820Leu)
c.2455G>C (p.Val819Leu)
c.2413G>C (p.Val805Leu)
c.1486G>C (p.Val496Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406793C>TCA409636938KCNQ2c.2524G>A (p.Val842Met)
c.2470G>A (p.Val824Met)
c.1867G>A (p.Val623Met)
c.2377G>A (p.Val793Met)
c.2038G>A (p.Val680Met)
c.2386G>A (p.Val796Met)
c.2241+253G>A (n.2241+253G>A)
c.2205+253G>A (n.2205+253G>A)
c.2416G>A (p.Val806Met)
c.2133+253G>A (n.2133+253G>A)
c.1680-5950G>A (n.1680-5950G>A)
c.2512G>A (p.Val838Met)
c.2578G>A (p.Val860Met)
c.2575G>A (p.Val859Met)
c.2548G>A (p.Val850Met)
c.2494G>A (p.Val832Met)
c.2467G>A (p.Val823Met)
c.2452G>A (p.Val818Met)
c.2059G>A (p.Val687Met)
c.2521G>A (p.Val841Met)
c.2458G>A (p.Val820Met)
c.2455G>A (p.Val819Met)
c.2413G>A (p.Val805Met)
c.1486G>A (p.Val496Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63406794G>ACA9958071KCNQ2c.2523C>T (p.Ala841=)
c.2469C>T (p.Ala823=)
c.1866C>T (p.Ala622=)
c.2376C>T (p.Ala792=)
c.2037C>T (p.Ala679=)
c.2385C>T (p.Ala795=)
c.2241+252C>T (n.2241+252C>T)
c.2205+252C>T (n.2205+252C>T)
c.2415C>T (p.Ala805=)
c.2133+252C>T (n.2133+252C>T)
c.1680-5951C>T (n.1680-5951C>T)
c.2511C>T (p.Ala837=)
c.2577C>T (p.Ala859=)
c.2574C>T (p.Ala858=)
c.2547C>T (p.Ala849=)
c.2493C>T (p.Ala831=)
c.2466C>T (p.Ala822=)
c.2451C>T (p.Ala817=)
c.2058C>T (p.Ala686=)
c.2520C>T (p.Ala840=)
c.2457C>T (p.Ala819=)
c.2454C>T (p.Ala818=)
c.2412C>T (p.Ala804=)
c.1485C>T (p.Ala495=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406794G>CCA511339313KCNQ2c.2523C>G (p.Ala841=)
c.2469C>G (p.Ala823=)
c.1866C>G (p.Ala622=)
c.2376C>G (p.Ala792=)
c.2037C>G (p.Ala679=)
c.2385C>G (p.Ala795=)
c.2241+252C>G (n.2241+252C>G)
c.2205+252C>G (n.2205+252C>G)
c.2415C>G (p.Ala805=)
c.2133+252C>G (n.2133+252C>G)
c.1680-5951C>G (n.1680-5951C>G)
c.2511C>G (p.Ala837=)
c.2577C>G (p.Ala859=)
c.2574C>G (p.Ala858=)
c.2547C>G (p.Ala849=)
c.2493C>G (p.Ala831=)
c.2466C>G (p.Ala822=)
c.2451C>G (p.Ala817=)
c.2058C>G (p.Ala686=)
c.2520C>G (p.Ala840=)
c.2457C>G (p.Ala819=)
c.2454C>G (p.Ala818=)
c.2412C>G (p.Ala804=)
c.1485C>G (p.Ala495=)
 gnomAD v4
20g.63406794G=CA2374774250KCNQ2c.2523C= (p.Ala841=)
c.2469C= (p.Ala823=)
c.1866C= (p.Ala622=)
c.2376C= (p.Ala792=)
c.2037C= (p.Ala679=)
c.2385C= (p.Ala795=)
c.2241+252C= (n.2241+252C=)
c.2205+252C= (n.2205+252C=)
c.2415C= (p.Ala805=)
c.2133+252C= (n.2133+252C=)
c.1680-5951C= (n.1680-5951C=)
c.2511C= (p.Ala837=)
c.2577C= (p.Ala859=)
c.2574C= (p.Ala858=)
c.2547C= (p.Ala849=)
c.2493C= (p.Ala831=)
c.2466C= (p.Ala822=)
c.2451C= (p.Ala817=)
c.2058C= (p.Ala686=)
c.2520C= (p.Ala840=)
c.2457C= (p.Ala819=)
c.2454C= (p.Ala818=)
c.2412C= (p.Ala804=)
c.1485C= (p.Ala495=)
20g.63406794G>TCA511339314KCNQ2c.2523C>A (p.Ala841=)
c.2469C>A (p.Ala823=)
c.1866C>A (p.Ala622=)
c.2376C>A (p.Ala792=)
c.2037C>A (p.Ala679=)
c.2385C>A (p.Ala795=)
c.2241+252C>A (n.2241+252C>A)
c.2205+252C>A (n.2205+252C>A)
c.2415C>A (p.Ala805=)
c.2133+252C>A (n.2133+252C>A)
c.1680-5951C>A (n.1680-5951C>A)
c.2511C>A (p.Ala837=)
c.2577C>A (p.Ala859=)
c.2574C>A (p.Ala858=)
c.2547C>A (p.Ala849=)
c.2493C>A (p.Ala831=)
c.2466C>A (p.Ala822=)
c.2451C>A (p.Ala817=)
c.2058C>A (p.Ala686=)
c.2520C>A (p.Ala840=)
c.2457C>A (p.Ala819=)
c.2454C>A (p.Ala818=)
c.2412C>A (p.Ala804=)
c.1485C>A (p.Ala495=)
20g.63406795G>ACA409636944KCNQ2c.2522C>T (p.Ala841Val)
c.2468C>T (p.Ala823Val)
c.1865C>T (p.Ala622Val)
c.2375C>T (p.Ala792Val)
c.2036C>T (p.Ala679Val)
c.2384C>T (p.Ala795Val)
c.2241+251C>T (n.2241+251C>T)
c.2205+251C>T (n.2205+251C>T)
c.2414C>T (p.Ala805Val)
c.2133+251C>T (n.2133+251C>T)
c.1680-5952C>T (n.1680-5952C>T)
c.2510C>T (p.Ala837Val)
c.2576C>T (p.Ala859Val)
c.2573C>T (p.Ala858Val)
c.2546C>T (p.Ala849Val)
c.2492C>T (p.Ala831Val)
c.2465C>T (p.Ala822Val)
c.2450C>T (p.Ala817Val)
c.2057C>T (p.Ala686Val)
c.2519C>T (p.Ala840Val)
c.2456C>T (p.Ala819Val)
c.2453C>T (p.Ala818Val)
c.2411C>T (p.Ala804Val)
c.1484C>T (p.Ala495Val)
20g.63406795G>CCA409636945KCNQ2c.2522C>G (p.Ala841Gly)
c.2468C>G (p.Ala823Gly)
c.1865C>G (p.Ala622Gly)
c.2375C>G (p.Ala792Gly)
c.2036C>G (p.Ala679Gly)
c.2384C>G (p.Ala795Gly)
c.2241+251C>G (n.2241+251C>G)
c.2205+251C>G (n.2205+251C>G)
c.2414C>G (p.Ala805Gly)
c.2133+251C>G (n.2133+251C>G)
c.1680-5952C>G (n.1680-5952C>G)
c.2510C>G (p.Ala837Gly)
c.2576C>G (p.Ala859Gly)
c.2573C>G (p.Ala858Gly)
c.2546C>G (p.Ala849Gly)
c.2492C>G (p.Ala831Gly)
c.2465C>G (p.Ala822Gly)
c.2450C>G (p.Ala817Gly)
c.2057C>G (p.Ala686Gly)
c.2519C>G (p.Ala840Gly)
c.2456C>G (p.Ala819Gly)
c.2453C>G (p.Ala818Gly)
c.2411C>G (p.Ala804Gly)
c.1484C>G (p.Ala495Gly)
20g.63406795G>TCA409636947KCNQ2c.2522C>A (p.Ala841Asp)
c.2468C>A (p.Ala823Asp)
c.1865C>A (p.Ala622Asp)
c.2375C>A (p.Ala792Asp)
c.2036C>A (p.Ala679Asp)
c.2384C>A (p.Ala795Asp)
c.2241+251C>A (n.2241+251C>A)
c.2205+251C>A (n.2205+251C>A)
c.2414C>A (p.Ala805Asp)
c.2133+251C>A (n.2133+251C>A)
c.1680-5952C>A (n.1680-5952C>A)
c.2510C>A (p.Ala837Asp)
c.2576C>A (p.Ala859Asp)
c.2573C>A (p.Ala858Asp)
c.2546C>A (p.Ala849Asp)
c.2492C>A (p.Ala831Asp)
c.2465C>A (p.Ala822Asp)
c.2450C>A (p.Ala817Asp)
c.2057C>A (p.Ala686Asp)
c.2519C>A (p.Ala840Asp)
c.2456C>A (p.Ala819Asp)
c.2453C>A (p.Ala818Asp)
c.2411C>A (p.Ala804Asp)
c.1484C>A (p.Ala495Asp)
 gnomAD v4
20g.63406796C>ACA409636949KCNQ2c.2521G>T (p.Ala841Ser)
c.2467G>T (p.Ala823Ser)
c.1864G>T (p.Ala622Ser)
c.2374G>T (p.Ala792Ser)
c.2035G>T (p.Ala679Ser)
c.2383G>T (p.Ala795Ser)
c.2241+250G>T (n.2241+250G>T)
c.2205+250G>T (n.2205+250G>T)
c.2413G>T (p.Ala805Ser)
c.2133+250G>T (n.2133+250G>T)
c.1680-5953G>T (n.1680-5953G>T)
c.2509G>T (p.Ala837Ser)
c.2575G>T (p.Ala859Ser)
c.2572G>T (p.Ala858Ser)
c.2545G>T (p.Ala849Ser)
c.2491G>T (p.Ala831Ser)
c.2464G>T (p.Ala822Ser)
c.2449G>T (p.Ala817Ser)
c.2056G>T (p.Ala686Ser)
c.2518G>T (p.Ala840Ser)
c.2455G>T (p.Ala819Ser)
c.2452G>T (p.Ala818Ser)
c.2410G>T (p.Ala804Ser)
c.1483G>T (p.Ala495Ser)
20g.63406796C>GCA409636951KCNQ2c.2521G>C (p.Ala841Pro)
c.2467G>C (p.Ala823Pro)
c.1864G>C (p.Ala622Pro)
c.2374G>C (p.Ala792Pro)
c.2035G>C (p.Ala679Pro)
c.2383G>C (p.Ala795Pro)
c.2241+250G>C (n.2241+250G>C)
c.2205+250G>C (n.2205+250G>C)
c.2413G>C (p.Ala805Pro)
c.2133+250G>C (n.2133+250G>C)
c.1680-5953G>C (n.1680-5953G>C)
c.2509G>C (p.Ala837Pro)
c.2575G>C (p.Ala859Pro)
c.2572G>C (p.Ala858Pro)
c.2545G>C (p.Ala849Pro)
c.2491G>C (p.Ala831Pro)
c.2464G>C (p.Ala822Pro)
c.2449G>C (p.Ala817Pro)
c.2056G>C (p.Ala686Pro)
c.2518G>C (p.Ala840Pro)
c.2455G>C (p.Ala819Pro)
c.2452G>C (p.Ala818Pro)
c.2410G>C (p.Ala804Pro)
c.1483G>C (p.Ala495Pro)
20g.63406796C>TCA409636953KCNQ2c.2521G>A (p.Ala841Thr)
c.2467G>A (p.Ala823Thr)
c.1864G>A (p.Ala622Thr)
c.2374G>A (p.Ala792Thr)
c.2035G>A (p.Ala679Thr)
c.2383G>A (p.Ala795Thr)
c.2241+250G>A (n.2241+250G>A)
c.2205+250G>A (n.2205+250G>A)
c.2413G>A (p.Ala805Thr)
c.2133+250G>A (n.2133+250G>A)
c.1680-5953G>A (n.1680-5953G>A)
c.2509G>A (p.Ala837Thr)
c.2575G>A (p.Ala859Thr)
c.2572G>A (p.Ala858Thr)
c.2545G>A (p.Ala849Thr)
c.2491G>A (p.Ala831Thr)
c.2464G>A (p.Ala822Thr)
c.2449G>A (p.Ala817Thr)
c.2056G>A (p.Ala686Thr)
c.2518G>A (p.Ala840Thr)
c.2455G>A (p.Ala819Thr)
c.2452G>A (p.Ala818Thr)
c.2410G>A (p.Ala804Thr)
c.1483G>A (p.Ala495Thr)
20g.63406797C>ACA511339320KCNQ2c.2520G>T (p.Ala840=)
c.2466G>T (p.Ala822=)
c.1863G>T (p.Ala621=)
c.2373G>T (p.Ala791=)
c.2034G>T (p.Ala678=)
c.2382G>T (p.Ala794=)
c.2241+249G>T (n.2241+249G>T)
c.2205+249G>T (n.2205+249G>T)
c.2412G>T (p.Ala804=)
c.2133+249G>T (n.2133+249G>T)
c.1680-5954G>T (n.1680-5954G>T)
c.2508G>T (p.Ala836=)
c.2574G>T (p.Ala858=)
c.2571G>T (p.Ala857=)
c.2544G>T (p.Ala848=)
c.2490G>T (p.Ala830=)
c.2463G>T (p.Ala821=)
c.2448G>T (p.Ala816=)
c.2055G>T (p.Ala685=)
c.2517G>T (p.Ala839=)
c.2454G>T (p.Ala818=)
c.2451G>T (p.Ala817=)
c.2409G>T (p.Ala803=)
c.1482G>T (p.Ala494=)
20g.63406797C=CA2374774251KCNQ2c.2520G= (p.Ala840=)
c.2466G= (p.Ala822=)
c.1863G= (p.Ala621=)
c.2373G= (p.Ala791=)
c.2034G= (p.Ala678=)
c.2382G= (p.Ala794=)
c.2241+249G= (n.2241+249G=)
c.2205+249G= (n.2205+249G=)
c.2412G= (p.Ala804=)
c.2133+249G= (n.2133+249G=)
c.1680-5954G= (n.1680-5954G=)
c.2508G= (p.Ala836=)
c.2574G= (p.Ala858=)
c.2571G= (p.Ala857=)
c.2544G= (p.Ala848=)
c.2490G= (p.Ala830=)
c.2463G= (p.Ala821=)
c.2448G= (p.Ala816=)
c.2055G= (p.Ala685=)
c.2517G= (p.Ala839=)
c.2454G= (p.Ala818=)
c.2451G= (p.Ala817=)
c.2409G= (p.Ala803=)
c.1482G= (p.Ala494=)
20g.63406797C>GCA511339321KCNQ2c.2520G>C (p.Ala840=)
c.2466G>C (p.Ala822=)
c.1863G>C (p.Ala621=)
c.2373G>C (p.Ala791=)
c.2034G>C (p.Ala678=)
c.2382G>C (p.Ala794=)
c.2241+249G>C (n.2241+249G>C)
c.2205+249G>C (n.2205+249G>C)
c.2412G>C (p.Ala804=)
c.2133+249G>C (n.2133+249G>C)
c.1680-5954G>C (n.1680-5954G>C)
c.2508G>C (p.Ala836=)
c.2574G>C (p.Ala858=)
c.2571G>C (p.Ala857=)
c.2544G>C (p.Ala848=)
c.2490G>C (p.Ala830=)
c.2463G>C (p.Ala821=)
c.2448G>C (p.Ala816=)
c.2055G>C (p.Ala685=)
c.2517G>C (p.Ala839=)
c.2454G>C (p.Ala818=)
c.2451G>C (p.Ala817=)
c.2409G>C (p.Ala803=)
c.1482G>C (p.Ala494=)
20g.63406797C>TCA9958072KCNQ2c.2520G>A (p.Ala840=)
c.2466G>A (p.Ala822=)
c.1863G>A (p.Ala621=)
c.2373G>A (p.Ala791=)
c.2034G>A (p.Ala678=)
c.2382G>A (p.Ala794=)
c.2241+249G>A (n.2241+249G>A)
c.2205+249G>A (n.2205+249G>A)
c.2412G>A (p.Ala804=)
c.2133+249G>A (n.2133+249G>A)
c.1680-5954G>A (n.1680-5954G>A)
c.2508G>A (p.Ala836=)
c.2574G>A (p.Ala858=)
c.2571G>A (p.Ala857=)
c.2544G>A (p.Ala848=)
c.2490G>A (p.Ala830=)
c.2463G>A (p.Ala821=)
c.2448G>A (p.Ala816=)
c.2055G>A (p.Ala685=)
c.2517G>A (p.Ala839=)
c.2454G>A (p.Ala818=)
c.2451G>A (p.Ala817=)
c.2409G>A (p.Ala803=)
c.1482G>A (p.Ala494=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406798G>ACA090957KCNQ2c.2519C>T (p.Ala840Val)
c.2465C>T (p.Ala822Val)
c.1862C>T (p.Ala621Val)
c.2372C>T (p.Ala791Val)
c.2033C>T (p.Ala678Val)
c.2381C>T (p.Ala794Val)
c.2241+248C>T (n.2241+248C>T)
c.2205+248C>T (n.2205+248C>T)
c.2411C>T (p.Ala804Val)
c.2133+248C>T (n.2133+248C>T)
c.1680-5955C>T (n.1680-5955C>T)
c.2507C>T (p.Ala836Val)
c.2573C>T (p.Ala858Val)
c.2570C>T (p.Ala857Val)
c.2543C>T (p.Ala848Val)
c.2489C>T (p.Ala830Val)
c.2462C>T (p.Ala821Val)
c.2447C>T (p.Ala816Val)
c.2054C>T (p.Ala685Val)
c.2516C>T (p.Ala839Val)
c.2453C>T (p.Ala818Val)
c.2450C>T (p.Ala817Val)
c.2408C>T (p.Ala803Val)
c.1481C>T (p.Ala494Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63406798G>CCA409636957KCNQ2c.2519C>G (p.Ala840Gly)
c.2465C>G (p.Ala822Gly)
c.1862C>G (p.Ala621Gly)
c.2372C>G (p.Ala791Gly)
c.2033C>G (p.Ala678Gly)
c.2381C>G (p.Ala794Gly)
c.2241+248C>G (n.2241+248C>G)
c.2205+248C>G (n.2205+248C>G)
c.2411C>G (p.Ala804Gly)
c.2133+248C>G (n.2133+248C>G)
c.1680-5955C>G (n.1680-5955C>G)
c.2507C>G (p.Ala836Gly)
c.2573C>G (p.Ala858Gly)
c.2570C>G (p.Ala857Gly)
c.2543C>G (p.Ala848Gly)
c.2489C>G (p.Ala830Gly)
c.2462C>G (p.Ala821Gly)
c.2447C>G (p.Ala816Gly)
c.2054C>G (p.Ala685Gly)
c.2516C>G (p.Ala839Gly)
c.2453C>G (p.Ala818Gly)
c.2450C>G (p.Ala817Gly)
c.2408C>G (p.Ala803Gly)
c.1481C>G (p.Ala494Gly)
20g.63406798G=CA2374774252KCNQ2c.2519C= (p.Ala840=)
c.2465C= (p.Ala822=)
c.1862C= (p.Ala621=)
c.2372C= (p.Ala791=)
c.2033C= (p.Ala678=)
c.2381C= (p.Ala794=)
c.2241+248C= (n.2241+248C=)
c.2205+248C= (n.2205+248C=)
c.2411C= (p.Ala804=)
c.2133+248C= (n.2133+248C=)
c.1680-5955C= (n.1680-5955C=)
c.2507C= (p.Ala836=)
c.2573C= (p.Ala858=)
c.2570C= (p.Ala857=)
c.2543C= (p.Ala848=)
c.2489C= (p.Ala830=)
c.2462C= (p.Ala821=)
c.2447C= (p.Ala816=)
c.2054C= (p.Ala685=)
c.2516C= (p.Ala839=)
c.2453C= (p.Ala818=)
c.2450C= (p.Ala817=)
c.2408C= (p.Ala803=)
c.1481C= (p.Ala494=)
20g.63406798G>TCA409636960KCNQ2c.2519C>A (p.Ala840Glu)
c.2465C>A (p.Ala822Glu)
c.1862C>A (p.Ala621Glu)
c.2372C>A (p.Ala791Glu)
c.2033C>A (p.Ala678Glu)
c.2381C>A (p.Ala794Glu)
c.2241+248C>A (n.2241+248C>A)
c.2205+248C>A (n.2205+248C>A)
c.2411C>A (p.Ala804Glu)
c.2133+248C>A (n.2133+248C>A)
c.1680-5955C>A (n.1680-5955C>A)
c.2507C>A (p.Ala836Glu)
c.2573C>A (p.Ala858Glu)
c.2570C>A (p.Ala857Glu)
c.2543C>A (p.Ala848Glu)
c.2489C>A (p.Ala830Glu)
c.2462C>A (p.Ala821Glu)
c.2447C>A (p.Ala816Glu)
c.2054C>A (p.Ala685Glu)
c.2516C>A (p.Ala839Glu)
c.2453C>A (p.Ala818Glu)
c.2450C>A (p.Ala817Glu)
c.2408C>A (p.Ala803Glu)
c.1481C>A (p.Ala494Glu)
 dbSNP gnomAD v2 gnomAD v4
20g.63406799C>ACA409636962KCNQ2c.2518G>T (p.Ala840Ser)
c.2464G>T (p.Ala822Ser)
c.1861G>T (p.Ala621Ser)
c.2371G>T (p.Ala791Ser)
c.2032G>T (p.Ala678Ser)
c.2380G>T (p.Ala794Ser)
c.2241+247G>T (n.2241+247G>T)
c.2205+247G>T (n.2205+247G>T)
c.2410G>T (p.Ala804Ser)
c.2133+247G>T (n.2133+247G>T)
c.1680-5956G>T (n.1680-5956G>T)
c.2506G>T (p.Ala836Ser)
c.2572G>T (p.Ala858Ser)
c.2569G>T (p.Ala857Ser)
c.2542G>T (p.Ala848Ser)
c.2488G>T (p.Ala830Ser)
c.2461G>T (p.Ala821Ser)
c.2446G>T (p.Ala816Ser)
c.2053G>T (p.Ala685Ser)
c.2515G>T (p.Ala839Ser)
c.2452G>T (p.Ala818Ser)
c.2449G>T (p.Ala817Ser)
c.2407G>T (p.Ala803Ser)
c.1480G>T (p.Ala494Ser)
20g.63406799C=CA2374774253KCNQ2c.2518G= (p.Ala840=)
c.2464G= (p.Ala822=)
c.1861G= (p.Ala621=)
c.2371G= (p.Ala791=)
c.2032G= (p.Ala678=)
c.2380G= (p.Ala794=)
c.2241+247G= (n.2241+247G=)
c.2205+247G= (n.2205+247G=)
c.2410G= (p.Ala804=)
c.2133+247G= (n.2133+247G=)
c.1680-5956G= (n.1680-5956G=)
c.2506G= (p.Ala836=)
c.2572G= (p.Ala858=)
c.2569G= (p.Ala857=)
c.2542G= (p.Ala848=)
c.2488G= (p.Ala830=)
c.2461G= (p.Ala821=)
c.2446G= (p.Ala816=)
c.2053G= (p.Ala685=)
c.2515G= (p.Ala839=)
c.2452G= (p.Ala818=)
c.2449G= (p.Ala817=)
c.2407G= (p.Ala803=)
c.1480G= (p.Ala494=)
20g.63406799C>GCA9958073KCNQ2c.2518G>C (p.Ala840Pro)
c.2464G>C (p.Ala822Pro)
c.1861G>C (p.Ala621Pro)
c.2371G>C (p.Ala791Pro)
c.2032G>C (p.Ala678Pro)
c.2380G>C (p.Ala794Pro)
c.2241+247G>C (n.2241+247G>C)
c.2205+247G>C (n.2205+247G>C)
c.2410G>C (p.Ala804Pro)
c.2133+247G>C (n.2133+247G>C)
c.1680-5956G>C (n.1680-5956G>C)
c.2506G>C (p.Ala836Pro)
c.2572G>C (p.Ala858Pro)
c.2569G>C (p.Ala857Pro)
c.2542G>C (p.Ala848Pro)
c.2488G>C (p.Ala830Pro)
c.2461G>C (p.Ala821Pro)
c.2446G>C (p.Ala816Pro)
c.2053G>C (p.Ala685Pro)
c.2515G>C (p.Ala839Pro)
c.2452G>C (p.Ala818Pro)
c.2449G>C (p.Ala817Pro)
c.2407G>C (p.Ala803Pro)
c.1480G>C (p.Ala494Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406799C>TCA9958074KCNQ2c.2518G>A (p.Ala840Thr)
c.2464G>A (p.Ala822Thr)
c.1861G>A (p.Ala621Thr)
c.2371G>A (p.Ala791Thr)
c.2032G>A (p.Ala678Thr)
c.2380G>A (p.Ala794Thr)
c.2241+247G>A (n.2241+247G>A)
c.2205+247G>A (n.2205+247G>A)
c.2410G>A (p.Ala804Thr)
c.2133+247G>A (n.2133+247G>A)
c.1680-5956G>A (n.1680-5956G>A)
c.2506G>A (p.Ala836Thr)
c.2572G>A (p.Ala858Thr)
c.2569G>A (p.Ala857Thr)
c.2542G>A (p.Ala848Thr)
c.2488G>A (p.Ala830Thr)
c.2461G>A (p.Ala821Thr)
c.2446G>A (p.Ala816Thr)
c.2053G>A (p.Ala685Thr)
c.2515G>A (p.Ala839Thr)
c.2452G>A (p.Ala818Thr)
c.2449G>A (p.Ala817Thr)
c.2407G>A (p.Ala803Thr)
c.1480G>A (p.Ala494Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406800G>ACA9958075KCNQ2c.2517C>T (p.Tyr839=)
c.2463C>T (p.Tyr821=)
c.1860C>T (p.Tyr620=)
c.2370C>T (p.Tyr790=)
c.2031C>T (p.Tyr677=)
c.2379C>T (p.Tyr793=)
c.2241+246C>T (n.2241+246C>T)
c.2205+246C>T (n.2205+246C>T)
c.2409C>T (p.Tyr803=)
c.2133+246C>T (n.2133+246C>T)
c.1680-5957C>T (n.1680-5957C>T)
c.2505C>T (p.Tyr835=)
c.2571C>T (p.Tyr857=)
c.2568C>T (p.Tyr856=)
c.2541C>T (p.Tyr847=)
c.2487C>T (p.Tyr829=)
c.2460C>T (p.Tyr820=)
c.2445C>T (p.Tyr815=)
c.2052C>T (p.Tyr684=)
c.2514C>T (p.Tyr838=)
c.2451C>T (p.Tyr817=)
c.2448C>T (p.Tyr816=)
c.2406C>T (p.Tyr802=)
c.1479C>T (p.Tyr493=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406800G>CCA409636966KCNQ2c.2517C>G (p.Tyr839Ter)
c.2463C>G (p.Tyr821Ter)
c.1860C>G (p.Tyr620Ter)
c.2370C>G (p.Tyr790Ter)
c.2031C>G (p.Tyr677Ter)
c.2379C>G (p.Tyr793Ter)
c.2241+246C>G (n.2241+246C>G)
c.2205+246C>G (n.2205+246C>G)
c.2409C>G (p.Tyr803Ter)
c.2133+246C>G (n.2133+246C>G)
c.1680-5957C>G (n.1680-5957C>G)
c.2505C>G (p.Tyr835Ter)
c.2571C>G (p.Tyr857Ter)
c.2568C>G (p.Tyr856Ter)
c.2541C>G (p.Tyr847Ter)
c.2487C>G (p.Tyr829Ter)
c.2460C>G (p.Tyr820Ter)
c.2445C>G (p.Tyr815Ter)
c.2052C>G (p.Tyr684Ter)
c.2514C>G (p.Tyr838Ter)
c.2451C>G (p.Tyr817Ter)
c.2448C>G (p.Tyr816Ter)
c.2406C>G (p.Tyr802Ter)
c.1479C>G (p.Tyr493Ter)
 COSMIC COSMIC COSMIC
20g.63406800G=CA2374774254KCNQ2c.2517C= (p.Tyr839=)
c.2463C= (p.Tyr821=)
c.1860C= (p.Tyr620=)
c.2370C= (p.Tyr790=)
c.2031C= (p.Tyr677=)
c.2379C= (p.Tyr793=)
c.2241+246C= (n.2241+246C=)
c.2205+246C= (n.2205+246C=)
c.2409C= (p.Tyr803=)
c.2133+246C= (n.2133+246C=)
c.1680-5957C= (n.1680-5957C=)
c.2505C= (p.Tyr835=)
c.2571C= (p.Tyr857=)
c.2568C= (p.Tyr856=)
c.2541C= (p.Tyr847=)
c.2487C= (p.Tyr829=)
c.2460C= (p.Tyr820=)
c.2445C= (p.Tyr815=)
c.2052C= (p.Tyr684=)
c.2514C= (p.Tyr838=)
c.2451C= (p.Tyr817=)
c.2448C= (p.Tyr816=)
c.2406C= (p.Tyr802=)
c.1479C= (p.Tyr493=)
20g.63406800G>TCA409636965KCNQ2c.2517C>A (p.Tyr839Ter)
c.2463C>A (p.Tyr821Ter)
c.1860C>A (p.Tyr620Ter)
c.2370C>A (p.Tyr790Ter)
c.2031C>A (p.Tyr677Ter)
c.2379C>A (p.Tyr793Ter)
c.2241+246C>A (n.2241+246C>A)
c.2205+246C>A (n.2205+246C>A)
c.2409C>A (p.Tyr803Ter)
c.2133+246C>A (n.2133+246C>A)
c.1680-5957C>A (n.1680-5957C>A)
c.2505C>A (p.Tyr835Ter)
c.2571C>A (p.Tyr857Ter)
c.2568C>A (p.Tyr856Ter)
c.2541C>A (p.Tyr847Ter)
c.2487C>A (p.Tyr829Ter)
c.2460C>A (p.Tyr820Ter)
c.2445C>A (p.Tyr815Ter)
c.2052C>A (p.Tyr684Ter)
c.2514C>A (p.Tyr838Ter)
c.2451C>A (p.Tyr817Ter)
c.2448C>A (p.Tyr816Ter)
c.2406C>A (p.Tyr802Ter)
c.1479C>A (p.Tyr493Ter)
20g.63406801T>ACA409636969KCNQ2c.2516A>T (p.Tyr839Phe)
c.2462A>T (p.Tyr821Phe)
c.1859A>T (p.Tyr620Phe)
c.2369A>T (p.Tyr790Phe)
c.2030A>T (p.Tyr677Phe)
c.2378A>T (p.Tyr793Phe)
c.2241+245A>T (n.2241+245A>T)
c.2205+245A>T (n.2205+245A>T)
c.2408A>T (p.Tyr803Phe)
c.2133+245A>T (n.2133+245A>T)
c.1680-5958A>T (n.1680-5958A>T)
c.2504A>T (p.Tyr835Phe)
c.2570A>T (p.Tyr857Phe)
c.2567A>T (p.Tyr856Phe)
c.2540A>T (p.Tyr847Phe)
c.2486A>T (p.Tyr829Phe)
c.2459A>T (p.Tyr820Phe)
c.2444A>T (p.Tyr815Phe)
c.2051A>T (p.Tyr684Phe)
c.2513A>T (p.Tyr838Phe)
c.2450A>T (p.Tyr817Phe)
c.2447A>T (p.Tyr816Phe)
c.2405A>T (p.Tyr802Phe)
c.1478A>T (p.Tyr493Phe)
 gnomAD v4
20g.63406801T>CCA409636971KCNQ2c.2516A>G (p.Tyr839Cys)
c.2462A>G (p.Tyr821Cys)
c.1859A>G (p.Tyr620Cys)
c.2369A>G (p.Tyr790Cys)
c.2030A>G (p.Tyr677Cys)
c.2378A>G (p.Tyr793Cys)
c.2241+245A>G (n.2241+245A>G)
c.2205+245A>G (n.2205+245A>G)
c.2408A>G (p.Tyr803Cys)
c.2133+245A>G (n.2133+245A>G)
c.1680-5958A>G (n.1680-5958A>G)
c.2504A>G (p.Tyr835Cys)
c.2570A>G (p.Tyr857Cys)
c.2567A>G (p.Tyr856Cys)
c.2540A>G (p.Tyr847Cys)
c.2486A>G (p.Tyr829Cys)
c.2459A>G (p.Tyr820Cys)
c.2444A>G (p.Tyr815Cys)
c.2051A>G (p.Tyr684Cys)
c.2513A>G (p.Tyr838Cys)
c.2450A>G (p.Tyr817Cys)
c.2447A>G (p.Tyr816Cys)
c.2405A>G (p.Tyr802Cys)
c.1478A>G (p.Tyr493Cys)
 gnomAD v4
20g.63406801T>GCA409636972KCNQ2c.2516A>C (p.Tyr839Ser)
c.2462A>C (p.Tyr821Ser)
c.1859A>C (p.Tyr620Ser)
c.2369A>C (p.Tyr790Ser)
c.2030A>C (p.Tyr677Ser)
c.2378A>C (p.Tyr793Ser)
c.2241+245A>C (n.2241+245A>C)
c.2205+245A>C (n.2205+245A>C)
c.2408A>C (p.Tyr803Ser)
c.2133+245A>C (n.2133+245A>C)
c.1680-5958A>C (n.1680-5958A>C)
c.2504A>C (p.Tyr835Ser)
c.2570A>C (p.Tyr857Ser)
c.2567A>C (p.Tyr856Ser)
c.2540A>C (p.Tyr847Ser)
c.2486A>C (p.Tyr829Ser)
c.2459A>C (p.Tyr820Ser)
c.2444A>C (p.Tyr815Ser)
c.2051A>C (p.Tyr684Ser)
c.2513A>C (p.Tyr838Ser)
c.2450A>C (p.Tyr817Ser)
c.2447A>C (p.Tyr816Ser)
c.2405A>C (p.Tyr802Ser)
c.1478A>C (p.Tyr493Ser)
20g.63406802A>CCA409636975KCNQ2c.2515T>G (p.Tyr839Asp)
c.2461T>G (p.Tyr821Asp)
c.1858T>G (p.Tyr620Asp)
c.2368T>G (p.Tyr790Asp)
c.2029T>G (p.Tyr677Asp)
c.2377T>G (p.Tyr793Asp)
c.2241+244T>G (n.2241+244T>G)
c.2205+244T>G (n.2205+244T>G)
c.2407T>G (p.Tyr803Asp)
c.2133+244T>G (n.2133+244T>G)
c.1680-5959T>G (n.1680-5959T>G)
c.2503T>G (p.Tyr835Asp)
c.2569T>G (p.Tyr857Asp)
c.2566T>G (p.Tyr856Asp)
c.2539T>G (p.Tyr847Asp)
c.2485T>G (p.Tyr829Asp)
c.2458T>G (p.Tyr820Asp)
c.2443T>G (p.Tyr815Asp)
c.2050T>G (p.Tyr684Asp)
c.2512T>G (p.Tyr838Asp)
c.2449T>G (p.Tyr817Asp)
c.2446T>G (p.Tyr816Asp)
c.2404T>G (p.Tyr802Asp)
c.1477T>G (p.Tyr493Asp)
20g.63406802A>GCA409636977KCNQ2c.2515T>C (p.Tyr839His)
c.2461T>C (p.Tyr821His)
c.1858T>C (p.Tyr620His)
c.2368T>C (p.Tyr790His)
c.2029T>C (p.Tyr677His)
c.2377T>C (p.Tyr793His)
c.2241+244T>C (n.2241+244T>C)
c.2205+244T>C (n.2205+244T>C)
c.2407T>C (p.Tyr803His)
c.2133+244T>C (n.2133+244T>C)
c.1680-5959T>C (n.1680-5959T>C)
c.2503T>C (p.Tyr835His)
c.2569T>C (p.Tyr857His)
c.2566T>C (p.Tyr856His)
c.2539T>C (p.Tyr847His)
c.2485T>C (p.Tyr829His)
c.2458T>C (p.Tyr820His)
c.2443T>C (p.Tyr815His)
c.2050T>C (p.Tyr684His)
c.2512T>C (p.Tyr838His)
c.2449T>C (p.Tyr817His)
c.2446T>C (p.Tyr816His)
c.2404T>C (p.Tyr802His)
c.1477T>C (p.Tyr493His)
20g.63406802A>TCA409636978KCNQ2c.2515T>A (p.Tyr839Asn)
c.2461T>A (p.Tyr821Asn)
c.1858T>A (p.Tyr620Asn)
c.2368T>A (p.Tyr790Asn)
c.2029T>A (p.Tyr677Asn)
c.2377T>A (p.Tyr793Asn)
c.2241+244T>A (n.2241+244T>A)
c.2205+244T>A (n.2205+244T>A)
c.2407T>A (p.Tyr803Asn)
c.2133+244T>A (n.2133+244T>A)
c.1680-5959T>A (n.1680-5959T>A)
c.2503T>A (p.Tyr835Asn)
c.2569T>A (p.Tyr857Asn)
c.2566T>A (p.Tyr856Asn)
c.2539T>A (p.Tyr847Asn)
c.2485T>A (p.Tyr829Asn)
c.2458T>A (p.Tyr820Asn)
c.2443T>A (p.Tyr815Asn)
c.2050T>A (p.Tyr684Asn)
c.2512T>A (p.Tyr838Asn)
c.2449T>A (p.Tyr817Asn)
c.2446T>A (p.Tyr816Asn)
c.2404T>A (p.Tyr802Asn)
c.1477T>A (p.Tyr493Asn)
20g.63406803G>ACA511339327KCNQ2c.2514C>T (p.Cys838=)
c.2460C>T (p.Cys820=)
c.1857C>T (p.Cys619=)
c.2367C>T (p.Cys789=)
c.2028C>T (p.Cys676=)
c.2376C>T (p.Cys792=)
c.2241+243C>T (n.2241+243C>T)
c.2205+243C>T (n.2205+243C>T)
c.2406C>T (p.Cys802=)
c.2133+243C>T (n.2133+243C>T)
c.1680-5960C>T (n.1680-5960C>T)
c.2502C>T (p.Cys834=)
c.2568C>T (p.Cys856=)
c.2565C>T (p.Cys855=)
c.2538C>T (p.Cys846=)
c.2484C>T (p.Cys828=)
c.2457C>T (p.Cys819=)
c.2442C>T (p.Cys814=)
c.2049C>T (p.Cys683=)
c.2511C>T (p.Cys837=)
c.2448C>T (p.Cys816=)
c.2445C>T (p.Cys815=)
c.2403C>T (p.Cys801=)
c.1476C>T (p.Cys492=)
20g.63406803G>CCA409636979KCNQ2c.2514C>G (p.Cys838Trp)
c.2460C>G (p.Cys820Trp)
c.1857C>G (p.Cys619Trp)
c.2367C>G (p.Cys789Trp)
c.2028C>G (p.Cys676Trp)
c.2376C>G (p.Cys792Trp)
c.2241+243C>G (n.2241+243C>G)
c.2205+243C>G (n.2205+243C>G)
c.2406C>G (p.Cys802Trp)
c.2133+243C>G (n.2133+243C>G)
c.1680-5960C>G (n.1680-5960C>G)
c.2502C>G (p.Cys834Trp)
c.2568C>G (p.Cys856Trp)
c.2565C>G (p.Cys855Trp)
c.2538C>G (p.Cys846Trp)
c.2484C>G (p.Cys828Trp)
c.2457C>G (p.Cys819Trp)
c.2442C>G (p.Cys814Trp)
c.2049C>G (p.Cys683Trp)
c.2511C>G (p.Cys837Trp)
c.2448C>G (p.Cys816Trp)
c.2445C>G (p.Cys815Trp)
c.2403C>G (p.Cys801Trp)
c.1476C>G (p.Cys492Trp)
20g.63406803G>TCA409636980KCNQ2c.2514C>A (p.Cys838Ter)
c.2460C>A (p.Cys820Ter)
c.1857C>A (p.Cys619Ter)
c.2367C>A (p.Cys789Ter)
c.2028C>A (p.Cys676Ter)
c.2376C>A (p.Cys792Ter)
c.2241+243C>A (n.2241+243C>A)
c.2205+243C>A (n.2205+243C>A)
c.2406C>A (p.Cys802Ter)
c.2133+243C>A (n.2133+243C>A)
c.1680-5960C>A (n.1680-5960C>A)
c.2502C>A (p.Cys834Ter)
c.2568C>A (p.Cys856Ter)
c.2565C>A (p.Cys855Ter)
c.2538C>A (p.Cys846Ter)
c.2484C>A (p.Cys828Ter)
c.2457C>A (p.Cys819Ter)
c.2442C>A (p.Cys814Ter)
c.2049C>A (p.Cys683Ter)
c.2511C>A (p.Cys837Ter)
c.2448C>A (p.Cys816Ter)
c.2445C>A (p.Cys815Ter)
c.2403C>A (p.Cys801Ter)
c.1476C>A (p.Cys492Ter)
20g.63406804C>ACA409636982KCNQ2c.2513G>T (p.Cys838Phe)
c.2459G>T (p.Cys820Phe)
c.1856G>T (p.Cys619Phe)
c.2366G>T (p.Cys789Phe)
c.2027G>T (p.Cys676Phe)
c.2375G>T (p.Cys792Phe)
c.2241+242G>T (n.2241+242G>T)
c.2205+242G>T (n.2205+242G>T)
c.2405G>T (p.Cys802Phe)
c.2133+242G>T (n.2133+242G>T)
c.1680-5961G>T (n.1680-5961G>T)
c.2501G>T (p.Cys834Phe)
c.2567G>T (p.Cys856Phe)
c.2564G>T (p.Cys855Phe)
c.2537G>T (p.Cys846Phe)
c.2483G>T (p.Cys828Phe)
c.2456G>T (p.Cys819Phe)
c.2441G>T (p.Cys814Phe)
c.2048G>T (p.Cys683Phe)
c.2510G>T (p.Cys837Phe)
c.2447G>T (p.Cys816Phe)
c.2444G>T (p.Cys815Phe)
c.2402G>T (p.Cys801Phe)
c.1475G>T (p.Cys492Phe)
20g.63406804C>GCA409636984KCNQ2c.2513G>C (p.Cys838Ser)
c.2459G>C (p.Cys820Ser)
c.1856G>C (p.Cys619Ser)
c.2366G>C (p.Cys789Ser)
c.2027G>C (p.Cys676Ser)
c.2375G>C (p.Cys792Ser)
c.2241+242G>C (n.2241+242G>C)
c.2205+242G>C (n.2205+242G>C)
c.2405G>C (p.Cys802Ser)
c.2133+242G>C (n.2133+242G>C)
c.1680-5961G>C (n.1680-5961G>C)
c.2501G>C (p.Cys834Ser)
c.2567G>C (p.Cys856Ser)
c.2564G>C (p.Cys855Ser)
c.2537G>C (p.Cys846Ser)
c.2483G>C (p.Cys828Ser)
c.2456G>C (p.Cys819Ser)
c.2441G>C (p.Cys814Ser)
c.2048G>C (p.Cys683Ser)
c.2510G>C (p.Cys837Ser)
c.2447G>C (p.Cys816Ser)
c.2444G>C (p.Cys815Ser)
c.2402G>C (p.Cys801Ser)
c.1475G>C (p.Cys492Ser)
20g.63406804C>TCA409636985KCNQ2c.2513G>A (p.Cys838Tyr)
c.2459G>A (p.Cys820Tyr)
c.1856G>A (p.Cys619Tyr)
c.2366G>A (p.Cys789Tyr)
c.2027G>A (p.Cys676Tyr)
c.2375G>A (p.Cys792Tyr)
c.2241+242G>A (n.2241+242G>A)
c.2205+242G>A (n.2205+242G>A)
c.2405G>A (p.Cys802Tyr)
c.2133+242G>A (n.2133+242G>A)
c.1680-5961G>A (n.1680-5961G>A)
c.2501G>A (p.Cys834Tyr)
c.2567G>A (p.Cys856Tyr)
c.2564G>A (p.Cys855Tyr)
c.2537G>A (p.Cys846Tyr)
c.2483G>A (p.Cys828Tyr)
c.2456G>A (p.Cys819Tyr)
c.2441G>A (p.Cys814Tyr)
c.2048G>A (p.Cys683Tyr)
c.2510G>A (p.Cys837Tyr)
c.2447G>A (p.Cys816Tyr)
c.2444G>A (p.Cys815Tyr)
c.2402G>A (p.Cys801Tyr)
c.1475G>A (p.Cys492Tyr)
20g.63406805A>CCA409636991KCNQ2c.2512T>G (p.Cys838Gly)
c.2458T>G (p.Cys820Gly)
c.1855T>G (p.Cys619Gly)
c.2365T>G (p.Cys789Gly)
c.2026T>G (p.Cys676Gly)
c.2374T>G (p.Cys792Gly)
c.2241+241T>G (n.2241+241T>G)
c.2205+241T>G (n.2205+241T>G)
c.2404T>G (p.Cys802Gly)
c.2133+241T>G (n.2133+241T>G)
c.1680-5962T>G (n.1680-5962T>G)
c.2500T>G (p.Cys834Gly)
c.2566T>G (p.Cys856Gly)
c.2563T>G (p.Cys855Gly)
c.2536T>G (p.Cys846Gly)
c.2482T>G (p.Cys828Gly)
c.2455T>G (p.Cys819Gly)
c.2440T>G (p.Cys814Gly)
c.2047T>G (p.Cys683Gly)
c.2509T>G (p.Cys837Gly)
c.2446T>G (p.Cys816Gly)
c.2443T>G (p.Cys815Gly)
c.2401T>G (p.Cys801Gly)
c.1474T>G (p.Cys492Gly)
20g.63406805A>GCA409636990KCNQ2c.2512T>C (p.Cys838Arg)
c.2458T>C (p.Cys820Arg)
c.1855T>C (p.Cys619Arg)
c.2365T>C (p.Cys789Arg)
c.2026T>C (p.Cys676Arg)
c.2374T>C (p.Cys792Arg)
c.2241+241T>C (n.2241+241T>C)
c.2205+241T>C (n.2205+241T>C)
c.2404T>C (p.Cys802Arg)
c.2133+241T>C (n.2133+241T>C)
c.1680-5962T>C (n.1680-5962T>C)
c.2500T>C (p.Cys834Arg)
c.2566T>C (p.Cys856Arg)
c.2563T>C (p.Cys855Arg)
c.2536T>C (p.Cys846Arg)
c.2482T>C (p.Cys828Arg)
c.2455T>C (p.Cys819Arg)
c.2440T>C (p.Cys814Arg)
c.2047T>C (p.Cys683Arg)
c.2509T>C (p.Cys837Arg)
c.2446T>C (p.Cys816Arg)
c.2443T>C (p.Cys815Arg)
c.2401T>C (p.Cys801Arg)
c.1474T>C (p.Cys492Arg)
20g.63406805A>TCA409636988KCNQ2c.2512T>A (p.Cys838Ser)
c.2458T>A (p.Cys820Ser)
c.1855T>A (p.Cys619Ser)
c.2365T>A (p.Cys789Ser)
c.2026T>A (p.Cys676Ser)
c.2374T>A (p.Cys792Ser)
c.2241+241T>A (n.2241+241T>A)
c.2205+241T>A (n.2205+241T>A)
c.2404T>A (p.Cys802Ser)
c.2133+241T>A (n.2133+241T>A)
c.1680-5962T>A (n.1680-5962T>A)
c.2500T>A (p.Cys834Ser)
c.2566T>A (p.Cys856Ser)
c.2563T>A (p.Cys855Ser)
c.2536T>A (p.Cys846Ser)
c.2482T>A (p.Cys828Ser)
c.2455T>A (p.Cys819Ser)
c.2440T>A (p.Cys814Ser)
c.2047T>A (p.Cys683Ser)
c.2509T>A (p.Cys837Ser)
c.2446T>A (p.Cys816Ser)
c.2443T>A (p.Cys815Ser)
c.2401T>A (p.Cys801Ser)
c.1474T>A (p.Cys492Ser)
20g.63406806G>ACA511339330KCNQ2c.2511C>T (p.Ser837=)
c.2457C>T (p.Ser819=)
c.1854C>T (p.Ser618=)
c.2364C>T (p.Ser788=)
c.2025C>T (p.Ser675=)
c.2373C>T (p.Ser791=)
c.2241+240C>T (n.2241+240C>T)
c.2205+240C>T (n.2205+240C>T)
c.2403C>T (p.Ser801=)
c.2133+240C>T (n.2133+240C>T)
c.1680-5963C>T (n.1680-5963C>T)
c.2499C>T (p.Ser833=)
c.2565C>T (p.Ser855=)
c.2562C>T (p.Ser854=)
c.2535C>T (p.Ser845=)
c.2481C>T (p.Ser827=)
c.2454C>T (p.Ser818=)
c.2439C>T (p.Ser813=)
c.2046C>T (p.Ser682=)
c.2508C>T (p.Ser836=)
c.2445C>T (p.Ser815=)
c.2442C>T (p.Ser814=)
c.2400C>T (p.Ser800=)
c.1473C>T (p.Ser491=)
20g.63406806G>CCA409636994KCNQ2c.2511C>G (p.Ser837Arg)
c.2457C>G (p.Ser819Arg)
c.1854C>G (p.Ser618Arg)
c.2364C>G (p.Ser788Arg)
c.2025C>G (p.Ser675Arg)
c.2373C>G (p.Ser791Arg)
c.2241+240C>G (n.2241+240C>G)
c.2205+240C>G (n.2205+240C>G)
c.2403C>G (p.Ser801Arg)
c.2133+240C>G (n.2133+240C>G)
c.1680-5963C>G (n.1680-5963C>G)
c.2499C>G (p.Ser833Arg)
c.2565C>G (p.Ser855Arg)
c.2562C>G (p.Ser854Arg)
c.2535C>G (p.Ser845Arg)
c.2481C>G (p.Ser827Arg)
c.2454C>G (p.Ser818Arg)
c.2439C>G (p.Ser813Arg)
c.2046C>G (p.Ser682Arg)
c.2508C>G (p.Ser836Arg)
c.2445C>G (p.Ser815Arg)
c.2442C>G (p.Ser814Arg)
c.2400C>G (p.Ser800Arg)
c.1473C>G (p.Ser491Arg)
20g.63406806G>TCA409636996KCNQ2c.2511C>A (p.Ser837Arg)
c.2457C>A (p.Ser819Arg)
c.1854C>A (p.Ser618Arg)
c.2364C>A (p.Ser788Arg)
c.2025C>A (p.Ser675Arg)
c.2373C>A (p.Ser791Arg)
c.2241+240C>A (n.2241+240C>A)
c.2205+240C>A (n.2205+240C>A)
c.2403C>A (p.Ser801Arg)
c.2133+240C>A (n.2133+240C>A)
c.1680-5963C>A (n.1680-5963C>A)
c.2499C>A (p.Ser833Arg)
c.2565C>A (p.Ser855Arg)
c.2562C>A (p.Ser854Arg)
c.2535C>A (p.Ser845Arg)
c.2481C>A (p.Ser827Arg)
c.2454C>A (p.Ser818Arg)
c.2439C>A (p.Ser813Arg)
c.2046C>A (p.Ser682Arg)
c.2508C>A (p.Ser836Arg)
c.2445C>A (p.Ser815Arg)
c.2442C>A (p.Ser814Arg)
c.2400C>A (p.Ser800Arg)
c.1473C>A (p.Ser491Arg)
 gnomAD v4
20g.63406807C>ACA409636999KCNQ2c.2510G>T (p.Ser837Ile)
c.2456G>T (p.Ser819Ile)
c.1853G>T (p.Ser618Ile)
c.2363G>T (p.Ser788Ile)
c.2024G>T (p.Ser675Ile)
c.2372G>T (p.Ser791Ile)
c.2241+239G>T (n.2241+239G>T)
c.2205+239G>T (n.2205+239G>T)
c.2402G>T (p.Ser801Ile)
c.2133+239G>T (n.2133+239G>T)
c.1680-5964G>T (n.1680-5964G>T)
c.2498G>T (p.Ser833Ile)
c.2564G>T (p.Ser855Ile)
c.2561G>T (p.Ser854Ile)
c.2534G>T (p.Ser845Ile)
c.2480G>T (p.Ser827Ile)
c.2453G>T (p.Ser818Ile)
c.2438G>T (p.Ser813Ile)
c.2045G>T (p.Ser682Ile)
c.2507G>T (p.Ser836Ile)
c.2444G>T (p.Ser815Ile)
c.2441G>T (p.Ser814Ile)
c.2399G>T (p.Ser800Ile)
c.1472G>T (p.Ser491Ile)
20g.63406807C>GCA409637002KCNQ2c.2510G>C (p.Ser837Thr)
c.2456G>C (p.Ser819Thr)
c.1853G>C (p.Ser618Thr)
c.2363G>C (p.Ser788Thr)
c.2024G>C (p.Ser675Thr)
c.2372G>C (p.Ser791Thr)
c.2241+239G>C (n.2241+239G>C)
c.2205+239G>C (n.2205+239G>C)
c.2402G>C (p.Ser801Thr)
c.2133+239G>C (n.2133+239G>C)
c.1680-5964G>C (n.1680-5964G>C)
c.2498G>C (p.Ser833Thr)
c.2564G>C (p.Ser855Thr)
c.2561G>C (p.Ser854Thr)
c.2534G>C (p.Ser845Thr)
c.2480G>C (p.Ser827Thr)
c.2453G>C (p.Ser818Thr)
c.2438G>C (p.Ser813Thr)
c.2045G>C (p.Ser682Thr)
c.2507G>C (p.Ser836Thr)
c.2444G>C (p.Ser815Thr)
c.2441G>C (p.Ser814Thr)
c.2399G>C (p.Ser800Thr)
c.1472G>C (p.Ser491Thr)
20g.63406807C>TCA409637000KCNQ2c.2510G>A (p.Ser837Asn)
c.2456G>A (p.Ser819Asn)
c.1853G>A (p.Ser618Asn)
c.2363G>A (p.Ser788Asn)
c.2024G>A (p.Ser675Asn)
c.2372G>A (p.Ser791Asn)
c.2241+239G>A (n.2241+239G>A)
c.2205+239G>A (n.2205+239G>A)
c.2402G>A (p.Ser801Asn)
c.2133+239G>A (n.2133+239G>A)
c.1680-5964G>A (n.1680-5964G>A)
c.2498G>A (p.Ser833Asn)
c.2564G>A (p.Ser855Asn)
c.2561G>A (p.Ser854Asn)
c.2534G>A (p.Ser845Asn)
c.2480G>A (p.Ser827Asn)
c.2453G>A (p.Ser818Asn)
c.2438G>A (p.Ser813Asn)
c.2045G>A (p.Ser682Asn)
c.2507G>A (p.Ser836Asn)
c.2444G>A (p.Ser815Asn)
c.2441G>A (p.Ser814Asn)
c.2399G>A (p.Ser800Asn)
c.1472G>A (p.Ser491Asn)
 gnomAD v4
20g.63406808T>ACA409637005KCNQ2c.2509A>T (p.Ser837Cys)
c.2455A>T (p.Ser819Cys)
c.1852A>T (p.Ser618Cys)
c.2362A>T (p.Ser788Cys)
c.2023A>T (p.Ser675Cys)
c.2371A>T (p.Ser791Cys)
c.2241+238A>T (n.2241+238A>T)
c.2205+238A>T (n.2205+238A>T)
c.2401A>T (p.Ser801Cys)
c.2133+238A>T (n.2133+238A>T)
c.1680-5965A>T (n.1680-5965A>T)
c.2497A>T (p.Ser833Cys)
c.2563A>T (p.Ser855Cys)
c.2560A>T (p.Ser854Cys)
c.2533A>T (p.Ser845Cys)
c.2479A>T (p.Ser827Cys)
c.2452A>T (p.Ser818Cys)
c.2437A>T (p.Ser813Cys)
c.2044A>T (p.Ser682Cys)
c.2506A>T (p.Ser836Cys)
c.2443A>T (p.Ser815Cys)
c.2440A>T (p.Ser814Cys)
c.2398A>T (p.Ser800Cys)
c.1471A>T (p.Ser491Cys)
20g.63406808T>CCA409637007KCNQ2c.2509A>G (p.Ser837Gly)
c.2455A>G (p.Ser819Gly)
c.1852A>G (p.Ser618Gly)
c.2362A>G (p.Ser788Gly)
c.2023A>G (p.Ser675Gly)
c.2371A>G (p.Ser791Gly)
c.2241+238A>G (n.2241+238A>G)
c.2205+238A>G (n.2205+238A>G)
c.2401A>G (p.Ser801Gly)
c.2133+238A>G (n.2133+238A>G)
c.1680-5965A>G (n.1680-5965A>G)
c.2497A>G (p.Ser833Gly)
c.2563A>G (p.Ser855Gly)
c.2560A>G (p.Ser854Gly)
c.2533A>G (p.Ser845Gly)
c.2479A>G (p.Ser827Gly)
c.2452A>G (p.Ser818Gly)
c.2437A>G (p.Ser813Gly)
c.2044A>G (p.Ser682Gly)
c.2506A>G (p.Ser836Gly)
c.2443A>G (p.Ser815Gly)
c.2440A>G (p.Ser814Gly)
c.2398A>G (p.Ser800Gly)
c.1471A>G (p.Ser491Gly)
20g.63406808T>GCA409637009KCNQ2c.2509A>C (p.Ser837Arg)
c.2455A>C (p.Ser819Arg)
c.1852A>C (p.Ser618Arg)
c.2362A>C (p.Ser788Arg)
c.2023A>C (p.Ser675Arg)
c.2371A>C (p.Ser791Arg)
c.2241+238A>C (n.2241+238A>C)
c.2205+238A>C (n.2205+238A>C)
c.2401A>C (p.Ser801Arg)
c.2133+238A>C (n.2133+238A>C)
c.1680-5965A>C (n.1680-5965A>C)
c.2497A>C (p.Ser833Arg)
c.2563A>C (p.Ser855Arg)
c.2560A>C (p.Ser854Arg)
c.2533A>C (p.Ser845Arg)
c.2479A>C (p.Ser827Arg)
c.2452A>C (p.Ser818Arg)
c.2437A>C (p.Ser813Arg)
c.2044A>C (p.Ser682Arg)
c.2506A>C (p.Ser836Arg)
c.2443A>C (p.Ser815Arg)
c.2440A>C (p.Ser814Arg)
c.2398A>C (p.Ser800Arg)
c.1471A>C (p.Ser491Arg)
20g.63406809G>ACA9958076KCNQ2c.2508C>T (p.Asn836=)
c.2454C>T (p.Asn818=)
c.1851C>T (p.Asn617=)
c.2361C>T (p.Asn787=)
c.2022C>T (p.Asn674=)
c.2370C>T (p.Asn790=)
c.2241+237C>T (n.2241+237C>T)
c.2205+237C>T (n.2205+237C>T)
c.2400C>T (p.Asn800=)
c.2133+237C>T (n.2133+237C>T)
c.1680-5966C>T (n.1680-5966C>T)
c.2496C>T (p.Asn832=)
c.2562C>T (p.Asn854=)
c.2559C>T (p.Asn853=)
c.2532C>T (p.Asn844=)
c.2478C>T (p.Asn826=)
c.2451C>T (p.Asn817=)
c.2436C>T (p.Asn812=)
c.2043C>T (p.Asn681=)
c.2505C>T (p.Asn835=)
c.2442C>T (p.Asn814=)
c.2439C>T (p.Asn813=)
c.2397C>T (p.Asn799=)
c.1470C>T (p.Asn490=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406809G>CCA409637010KCNQ2c.2508C>G (p.Asn836Lys)
c.2454C>G (p.Asn818Lys)
c.1851C>G (p.Asn617Lys)
c.2361C>G (p.Asn787Lys)
c.2022C>G (p.Asn674Lys)
c.2370C>G (p.Asn790Lys)
c.2241+237C>G (n.2241+237C>G)
c.2205+237C>G (n.2205+237C>G)
c.2400C>G (p.Asn800Lys)
c.2133+237C>G (n.2133+237C>G)
c.1680-5966C>G (n.1680-5966C>G)
c.2496C>G (p.Asn832Lys)
c.2562C>G (p.Asn854Lys)
c.2559C>G (p.Asn853Lys)
c.2532C>G (p.Asn844Lys)
c.2478C>G (p.Asn826Lys)
c.2451C>G (p.Asn817Lys)
c.2436C>G (p.Asn812Lys)
c.2043C>G (p.Asn681Lys)
c.2505C>G (p.Asn835Lys)
c.2442C>G (p.Asn814Lys)
c.2439C>G (p.Asn813Lys)
c.2397C>G (p.Asn799Lys)
c.1470C>G (p.Asn490Lys)
 gnomAD v4
20g.63406809G=CA2374774255KCNQ2c.2508C= (p.Asn836=)
c.2454C= (p.Asn818=)
c.1851C= (p.Asn617=)
c.2361C= (p.Asn787=)
c.2022C= (p.Asn674=)
c.2370C= (p.Asn790=)
c.2241+237C= (n.2241+237C=)
c.2205+237C= (n.2205+237C=)
c.2400C= (p.Asn800=)
c.2133+237C= (n.2133+237C=)
c.1680-5966C= (n.1680-5966C=)
c.2496C= (p.Asn832=)
c.2562C= (p.Asn854=)
c.2559C= (p.Asn853=)
c.2532C= (p.Asn844=)
c.2478C= (p.Asn826=)
c.2451C= (p.Asn817=)
c.2436C= (p.Asn812=)
c.2043C= (p.Asn681=)
c.2505C= (p.Asn835=)
c.2442C= (p.Asn814=)
c.2439C= (p.Asn813=)
c.2397C= (p.Asn799=)
c.1470C= (p.Asn490=)
20g.63406809G>TCA409637012KCNQ2c.2508C>A (p.Asn836Lys)
c.2454C>A (p.Asn818Lys)
c.1851C>A (p.Asn617Lys)
c.2361C>A (p.Asn787Lys)
c.2022C>A (p.Asn674Lys)
c.2370C>A (p.Asn790Lys)
c.2241+237C>A (n.2241+237C>A)
c.2205+237C>A (n.2205+237C>A)
c.2400C>A (p.Asn800Lys)
c.2133+237C>A (n.2133+237C>A)
c.1680-5966C>A (n.1680-5966C>A)
c.2496C>A (p.Asn832Lys)
c.2562C>A (p.Asn854Lys)
c.2559C>A (p.Asn853Lys)
c.2532C>A (p.Asn844Lys)
c.2478C>A (p.Asn826Lys)
c.2451C>A (p.Asn817Lys)
c.2436C>A (p.Asn812Lys)
c.2043C>A (p.Asn681Lys)
c.2505C>A (p.Asn835Lys)
c.2442C>A (p.Asn814Lys)
c.2439C>A (p.Asn813Lys)
c.2397C>A (p.Asn799Lys)
c.1470C>A (p.Asn490Lys)
20g.63406810T>ACA409637017KCNQ2c.2507A>T (p.Asn836Ile)
c.2453A>T (p.Asn818Ile)
c.1850A>T (p.Asn617Ile)
c.2360A>T (p.Asn787Ile)
c.2021A>T (p.Asn674Ile)
c.2369A>T (p.Asn790Ile)
c.2241+236A>T (n.2241+236A>T)
c.2205+236A>T (n.2205+236A>T)
c.2399A>T (p.Asn800Ile)
c.2133+236A>T (n.2133+236A>T)
c.1680-5967A>T (n.1680-5967A>T)
c.2495A>T (p.Asn832Ile)
c.2561A>T (p.Asn854Ile)
c.2558A>T (p.Asn853Ile)
c.2531A>T (p.Asn844Ile)
c.2477A>T (p.Asn826Ile)
c.2450A>T (p.Asn817Ile)
c.2435A>T (p.Asn812Ile)
c.2042A>T (p.Asn681Ile)
c.2504A>T (p.Asn835Ile)
c.2441A>T (p.Asn814Ile)
c.2438A>T (p.Asn813Ile)
c.2396A>T (p.Asn799Ile)
c.1469A>T (p.Asn490Ile)
20g.63406810T>CCA409637015KCNQ2c.2507A>G (p.Asn836Ser)
c.2453A>G (p.Asn818Ser)
c.1850A>G (p.Asn617Ser)
c.2360A>G (p.Asn787Ser)
c.2021A>G (p.Asn674Ser)
c.2369A>G (p.Asn790Ser)
c.2241+236A>G (n.2241+236A>G)
c.2205+236A>G (n.2205+236A>G)
c.2399A>G (p.Asn800Ser)
c.2133+236A>G (n.2133+236A>G)
c.1680-5967A>G (n.1680-5967A>G)
c.2495A>G (p.Asn832Ser)
c.2561A>G (p.Asn854Ser)
c.2558A>G (p.Asn853Ser)
c.2531A>G (p.Asn844Ser)
c.2477A>G (p.Asn826Ser)
c.2450A>G (p.Asn817Ser)
c.2435A>G (p.Asn812Ser)
c.2042A>G (p.Asn681Ser)
c.2504A>G (p.Asn835Ser)
c.2441A>G (p.Asn814Ser)
c.2438A>G (p.Asn813Ser)
c.2396A>G (p.Asn799Ser)
c.1469A>G (p.Asn490Ser)
20g.63406810T>GCA409637014KCNQ2c.2507A>C (p.Asn836Thr)
c.2453A>C (p.Asn818Thr)
c.1850A>C (p.Asn617Thr)
c.2360A>C (p.Asn787Thr)
c.2021A>C (p.Asn674Thr)
c.2369A>C (p.Asn790Thr)
c.2241+236A>C (n.2241+236A>C)
c.2205+236A>C (n.2205+236A>C)
c.2399A>C (p.Asn800Thr)
c.2133+236A>C (n.2133+236A>C)
c.1680-5967A>C (n.1680-5967A>C)
c.2495A>C (p.Asn832Thr)
c.2561A>C (p.Asn854Thr)
c.2558A>C (p.Asn853Thr)
c.2531A>C (p.Asn844Thr)
c.2477A>C (p.Asn826Thr)
c.2450A>C (p.Asn817Thr)
c.2435A>C (p.Asn812Thr)
c.2042A>C (p.Asn681Thr)
c.2504A>C (p.Asn835Thr)
c.2441A>C (p.Asn814Thr)
c.2438A>C (p.Asn813Thr)
c.2396A>C (p.Asn799Thr)
c.1469A>C (p.Asn490Thr)
20g.63406811T>ACA409637018KCNQ2c.2506A>T (p.Asn836Tyr)
c.2452A>T (p.Asn818Tyr)
c.1849A>T (p.Asn617Tyr)
c.2359A>T (p.Asn787Tyr)
c.2020A>T (p.Asn674Tyr)
c.2368A>T (p.Asn790Tyr)
c.2241+235A>T (n.2241+235A>T)
c.2205+235A>T (n.2205+235A>T)
c.2398A>T (p.Asn800Tyr)
c.2133+235A>T (n.2133+235A>T)
c.1680-5968A>T (n.1680-5968A>T)
c.2494A>T (p.Asn832Tyr)
c.2560A>T (p.Asn854Tyr)
c.2557A>T (p.Asn853Tyr)
c.2530A>T (p.Asn844Tyr)
c.2476A>T (p.Asn826Tyr)
c.2449A>T (p.Asn817Tyr)
c.2434A>T (p.Asn812Tyr)
c.2041A>T (p.Asn681Tyr)
c.2503A>T (p.Asn835Tyr)
c.2440A>T (p.Asn814Tyr)
c.2437A>T (p.Asn813Tyr)
c.2395A>T (p.Asn799Tyr)
c.1468A>T (p.Asn490Tyr)
20g.63406811T>CCA409637020KCNQ2c.2506A>G (p.Asn836Asp)
c.2452A>G (p.Asn818Asp)
c.1849A>G (p.Asn617Asp)
c.2359A>G (p.Asn787Asp)
c.2020A>G (p.Asn674Asp)
c.2368A>G (p.Asn790Asp)
c.2241+235A>G (n.2241+235A>G)
c.2205+235A>G (n.2205+235A>G)
c.2398A>G (p.Asn800Asp)
c.2133+235A>G (n.2133+235A>G)
c.1680-5968A>G (n.1680-5968A>G)
c.2494A>G (p.Asn832Asp)
c.2560A>G (p.Asn854Asp)
c.2557A>G (p.Asn853Asp)
c.2530A>G (p.Asn844Asp)
c.2476A>G (p.Asn826Asp)
c.2449A>G (p.Asn817Asp)
c.2434A>G (p.Asn812Asp)
c.2041A>G (p.Asn681Asp)
c.2503A>G (p.Asn835Asp)
c.2440A>G (p.Asn814Asp)
c.2437A>G (p.Asn813Asp)
c.2395A>G (p.Asn799Asp)
c.1468A>G (p.Asn490Asp)
20g.63406811T>GCA409637022KCNQ2c.2506A>C (p.Asn836His)
c.2452A>C (p.Asn818His)
c.1849A>C (p.Asn617His)
c.2359A>C (p.Asn787His)
c.2020A>C (p.Asn674His)
c.2368A>C (p.Asn790His)
c.2241+235A>C (n.2241+235A>C)
c.2205+235A>C (n.2205+235A>C)
c.2398A>C (p.Asn800His)
c.2133+235A>C (n.2133+235A>C)
c.1680-5968A>C (n.1680-5968A>C)
c.2494A>C (p.Asn832His)
c.2560A>C (p.Asn854His)
c.2557A>C (p.Asn853His)
c.2530A>C (p.Asn844His)
c.2476A>C (p.Asn826His)
c.2449A>C (p.Asn817His)
c.2434A>C (p.Asn812His)
c.2041A>C (p.Asn681His)
c.2503A>C (p.Asn835His)
c.2440A>C (p.Asn814His)
c.2437A>C (p.Asn813His)
c.2395A>C (p.Asn799His)
c.1468A>C (p.Asn490His)
 gnomAD v4
20g.63406812G>ACA511339340KCNQ2c.2505C>T (p.Leu835=)
c.2451C>T (p.Leu817=)
c.1848C>T (p.Leu616=)
c.2358C>T (p.Leu786=)
c.2019C>T (p.Leu673=)
c.2367C>T (p.Leu789=)
c.2241+234C>T (n.2241+234C>T)
c.2205+234C>T (n.2205+234C>T)
c.2397C>T (p.Leu799=)
c.2133+234C>T (n.2133+234C>T)
c.1680-5969C>T (n.1680-5969C>T)
c.2493C>T (p.Leu831=)
c.2559C>T (p.Leu853=)
c.2556C>T (p.Leu852=)
c.2529C>T (p.Leu843=)
c.2475C>T (p.Leu825=)
c.2448C>T (p.Leu816=)
c.2433C>T (p.Leu811=)
c.2040C>T (p.Leu680=)
c.2502C>T (p.Leu834=)
c.2439C>T (p.Leu813=)
c.2436C>T (p.Leu812=)
c.2394C>T (p.Leu798=)
c.1467C>T (p.Leu489=)
 dbSNP gnomAD v3 gnomAD v4
20g.63406812G>CCA511339341KCNQ2c.2505C>G (p.Leu835=)
c.2451C>G (p.Leu817=)
c.1848C>G (p.Leu616=)
c.2358C>G (p.Leu786=)
c.2019C>G (p.Leu673=)
c.2367C>G (p.Leu789=)
c.2241+234C>G (n.2241+234C>G)
c.2205+234C>G (n.2205+234C>G)
c.2397C>G (p.Leu799=)
c.2133+234C>G (n.2133+234C>G)
c.1680-5969C>G (n.1680-5969C>G)
c.2493C>G (p.Leu831=)
c.2559C>G (p.Leu853=)
c.2556C>G (p.Leu852=)
c.2529C>G (p.Leu843=)
c.2475C>G (p.Leu825=)
c.2448C>G (p.Leu816=)
c.2433C>G (p.Leu811=)
c.2040C>G (p.Leu680=)
c.2502C>G (p.Leu834=)
c.2439C>G (p.Leu813=)
c.2436C>G (p.Leu812=)
c.2394C>G (p.Leu798=)
c.1467C>G (p.Leu489=)
20g.63406812G=CA2374774256KCNQ2c.2505C= (p.Leu835=)
c.2451C= (p.Leu817=)
c.1848C= (p.Leu616=)
c.2358C= (p.Leu786=)
c.2019C= (p.Leu673=)
c.2367C= (p.Leu789=)
c.2241+234C= (n.2241+234C=)
c.2205+234C= (n.2205+234C=)
c.2397C= (p.Leu799=)
c.2133+234C= (n.2133+234C=)
c.1680-5969C= (n.1680-5969C=)
c.2493C= (p.Leu831=)
c.2559C= (p.Leu853=)
c.2556C= (p.Leu852=)
c.2529C= (p.Leu843=)
c.2475C= (p.Leu825=)
c.2448C= (p.Leu816=)
c.2433C= (p.Leu811=)
c.2040C= (p.Leu680=)
c.2502C= (p.Leu834=)
c.2439C= (p.Leu813=)
c.2436C= (p.Leu812=)
c.2394C= (p.Leu798=)
c.1467C= (p.Leu489=)
20g.63406812G>TCA511339344KCNQ2c.2505C>A (p.Leu835=)
c.2451C>A (p.Leu817=)
c.1848C>A (p.Leu616=)
c.2358C>A (p.Leu786=)
c.2019C>A (p.Leu673=)
c.2367C>A (p.Leu789=)
c.2241+234C>A (n.2241+234C>A)
c.2205+234C>A (n.2205+234C>A)
c.2397C>A (p.Leu799=)
c.2133+234C>A (n.2133+234C>A)
c.1680-5969C>A (n.1680-5969C>A)
c.2493C>A (p.Leu831=)
c.2559C>A (p.Leu853=)
c.2556C>A (p.Leu852=)
c.2529C>A (p.Leu843=)
c.2475C>A (p.Leu825=)
c.2448C>A (p.Leu816=)
c.2433C>A (p.Leu811=)
c.2040C>A (p.Leu680=)
c.2502C>A (p.Leu834=)
c.2439C>A (p.Leu813=)
c.2436C>A (p.Leu812=)
c.2394C>A (p.Leu798=)
c.1467C>A (p.Leu489=)
20g.63406813A=CA2374774257KCNQ2c.2504T= (p.Leu835=)
c.2450T= (p.Leu817=)
c.1847T= (p.Leu616=)
c.2357T= (p.Leu786=)
c.2018T= (p.Leu673=)
c.2366T= (p.Leu789=)
c.2241+233T= (n.2241+233T=)
c.2205+233T= (n.2205+233T=)
c.2396T= (p.Leu799=)
c.2133+233T= (n.2133+233T=)
c.1680-5970T= (n.1680-5970T=)
c.2492T= (p.Leu831=)
c.2558T= (p.Leu853=)
c.2555T= (p.Leu852=)
c.2528T= (p.Leu843=)
c.2474T= (p.Leu825=)
c.2447T= (p.Leu816=)
c.2432T= (p.Leu811=)
c.2039T= (p.Leu680=)
c.2501T= (p.Leu834=)
c.2438T= (p.Leu813=)
c.2435T= (p.Leu812=)
c.2393T= (p.Leu798=)
c.1466T= (p.Leu489=)
20g.63406813A>CCA409637024KCNQ2c.2504T>G (p.Leu835Arg)
c.2450T>G (p.Leu817Arg)
c.1847T>G (p.Leu616Arg)
c.2357T>G (p.Leu786Arg)
c.2018T>G (p.Leu673Arg)
c.2366T>G (p.Leu789Arg)
c.2241+233T>G (n.2241+233T>G)
c.2205+233T>G (n.2205+233T>G)
c.2396T>G (p.Leu799Arg)
c.2133+233T>G (n.2133+233T>G)
c.1680-5970T>G (n.1680-5970T>G)
c.2492T>G (p.Leu831Arg)
c.2558T>G (p.Leu853Arg)
c.2555T>G (p.Leu852Arg)
c.2528T>G (p.Leu843Arg)
c.2474T>G (p.Leu825Arg)
c.2447T>G (p.Leu816Arg)
c.2432T>G (p.Leu811Arg)
c.2039T>G (p.Leu680Arg)
c.2501T>G (p.Leu834Arg)
c.2438T>G (p.Leu813Arg)
c.2435T>G (p.Leu812Arg)
c.2393T>G (p.Leu798Arg)
c.1466T>G (p.Leu489Arg)
20g.63406813A>GCA409637026KCNQ2c.2504T>C (p.Leu835Pro)
c.2450T>C (p.Leu817Pro)
c.1847T>C (p.Leu616Pro)
c.2357T>C (p.Leu786Pro)
c.2018T>C (p.Leu673Pro)
c.2366T>C (p.Leu789Pro)
c.2241+233T>C (n.2241+233T>C)
c.2205+233T>C (n.2205+233T>C)
c.2396T>C (p.Leu799Pro)
c.2133+233T>C (n.2133+233T>C)
c.1680-5970T>C (n.1680-5970T>C)
c.2492T>C (p.Leu831Pro)
c.2558T>C (p.Leu853Pro)
c.2555T>C (p.Leu852Pro)
c.2528T>C (p.Leu843Pro)
c.2474T>C (p.Leu825Pro)
c.2447T>C (p.Leu816Pro)
c.2432T>C (p.Leu811Pro)
c.2039T>C (p.Leu680Pro)
c.2501T>C (p.Leu834Pro)
c.2438T>C (p.Leu813Pro)
c.2435T>C (p.Leu812Pro)
c.2393T>C (p.Leu798Pro)
c.1466T>C (p.Leu489Pro)
 dbSNP
20g.63406813A>TCA409637028KCNQ2c.2504T>A (p.Leu835His)
c.2450T>A (p.Leu817His)
c.1847T>A (p.Leu616His)
c.2357T>A (p.Leu786His)
c.2018T>A (p.Leu673His)
c.2366T>A (p.Leu789His)
c.2241+233T>A (n.2241+233T>A)
c.2205+233T>A (n.2205+233T>A)
c.2396T>A (p.Leu799His)
c.2133+233T>A (n.2133+233T>A)
c.1680-5970T>A (n.1680-5970T>A)
c.2492T>A (p.Leu831His)
c.2558T>A (p.Leu853His)
c.2555T>A (p.Leu852His)
c.2528T>A (p.Leu843His)
c.2474T>A (p.Leu825His)
c.2447T>A (p.Leu816His)
c.2432T>A (p.Leu811His)
c.2039T>A (p.Leu680His)
c.2501T>A (p.Leu834His)
c.2438T>A (p.Leu813His)
c.2435T>A (p.Leu812His)
c.2393T>A (p.Leu798His)
c.1466T>A (p.Leu489His)
20g.63406814G>ACA409637031KCNQ2c.2503C>T (p.Leu835Phe)
c.2449C>T (p.Leu817Phe)
c.1846C>T (p.Leu616Phe)
c.2356C>T (p.Leu786Phe)
c.2017C>T (p.Leu673Phe)
c.2365C>T (p.Leu789Phe)
c.2241+232C>T (n.2241+232C>T)
c.2205+232C>T (n.2205+232C>T)
c.2395C>T (p.Leu799Phe)
c.2133+232C>T (n.2133+232C>T)
c.1680-5971C>T (n.1680-5971C>T)
c.2491C>T (p.Leu831Phe)
c.2557C>T (p.Leu853Phe)
c.2554C>T (p.Leu852Phe)
c.2527C>T (p.Leu843Phe)
c.2473C>T (p.Leu825Phe)
c.2446C>T (p.Leu816Phe)
c.2431C>T (p.Leu811Phe)
c.2038C>T (p.Leu680Phe)
c.2500C>T (p.Leu834Phe)
c.2437C>T (p.Leu813Phe)
c.2434C>T (p.Leu812Phe)
c.2392C>T (p.Leu798Phe)
c.1465C>T (p.Leu489Phe)
20g.63406814G>CCA409637035KCNQ2c.2503C>G (p.Leu835Val)
c.2449C>G (p.Leu817Val)
c.1846C>G (p.Leu616Val)
c.2356C>G (p.Leu786Val)
c.2017C>G (p.Leu673Val)
c.2365C>G (p.Leu789Val)
c.2241+232C>G (n.2241+232C>G)
c.2205+232C>G (n.2205+232C>G)
c.2395C>G (p.Leu799Val)
c.2133+232C>G (n.2133+232C>G)
c.1680-5971C>G (n.1680-5971C>G)
c.2491C>G (p.Leu831Val)
c.2557C>G (p.Leu853Val)
c.2554C>G (p.Leu852Val)
c.2527C>G (p.Leu843Val)
c.2473C>G (p.Leu825Val)
c.2446C>G (p.Leu816Val)
c.2431C>G (p.Leu811Val)
c.2038C>G (p.Leu680Val)
c.2500C>G (p.Leu834Val)
c.2437C>G (p.Leu813Val)
c.2434C>G (p.Leu812Val)
c.2392C>G (p.Leu798Val)
c.1465C>G (p.Leu489Val)
 gnomAD v4
20g.63406814G>TCA409637032KCNQ2c.2503C>A (p.Leu835Ile)
c.2449C>A (p.Leu817Ile)
c.1846C>A (p.Leu616Ile)
c.2356C>A (p.Leu786Ile)
c.2017C>A (p.Leu673Ile)
c.2365C>A (p.Leu789Ile)
c.2241+232C>A (n.2241+232C>A)
c.2205+232C>A (n.2205+232C>A)
c.2395C>A (p.Leu799Ile)
c.2133+232C>A (n.2133+232C>A)
c.1680-5971C>A (n.1680-5971C>A)
c.2491C>A (p.Leu831Ile)
c.2557C>A (p.Leu853Ile)
c.2554C>A (p.Leu852Ile)
c.2527C>A (p.Leu843Ile)
c.2473C>A (p.Leu825Ile)
c.2446C>A (p.Leu816Ile)
c.2431C>A (p.Leu811Ile)
c.2038C>A (p.Leu680Ile)
c.2500C>A (p.Leu834Ile)
c.2437C>A (p.Leu813Ile)
c.2434C>A (p.Leu812Ile)
c.2392C>A (p.Leu798Ile)
c.1465C>A (p.Leu489Ile)
20g.63406815A>CCA511339347KCNQ2c.2502T>G (p.Ala834=)
c.2448T>G (p.Ala816=)
c.1845T>G (p.Ala615=)
c.2355T>G (p.Ala785=)
c.2016T>G (p.Ala672=)
c.2364T>G (p.Ala788=)
c.2241+231T>G (n.2241+231T>G)
c.2205+231T>G (n.2205+231T>G)
c.2394T>G (p.Ala798=)
c.2133+231T>G (n.2133+231T>G)
c.1680-5972T>G (n.1680-5972T>G)
c.2490T>G (p.Ala830=)
c.2556T>G (p.Ala852=)
c.2553T>G (p.Ala851=)
c.2526T>G (p.Ala842=)
c.2472T>G (p.Ala824=)
c.2445T>G (p.Ala815=)
c.2430T>G (p.Ala810=)
c.2037T>G (p.Ala679=)
c.2499T>G (p.Ala833=)
c.2436T>G (p.Ala812=)
c.2433T>G (p.Ala811=)
c.2391T>G (p.Ala797=)
c.1464T>G (p.Ala488=)
20g.63406815A>GCA511339349KCNQ2c.2502T>C (p.Ala834=)
c.2448T>C (p.Ala816=)
c.1845T>C (p.Ala615=)
c.2355T>C (p.Ala785=)
c.2016T>C (p.Ala672=)
c.2364T>C (p.Ala788=)
c.2241+231T>C (n.2241+231T>C)
c.2205+231T>C (n.2205+231T>C)
c.2394T>C (p.Ala798=)
c.2133+231T>C (n.2133+231T>C)
c.1680-5972T>C (n.1680-5972T>C)
c.2490T>C (p.Ala830=)
c.2556T>C (p.Ala852=)
c.2553T>C (p.Ala851=)
c.2526T>C (p.Ala842=)
c.2472T>C (p.Ala824=)
c.2445T>C (p.Ala815=)
c.2430T>C (p.Ala810=)
c.2037T>C (p.Ala679=)
c.2499T>C (p.Ala833=)
c.2436T>C (p.Ala812=)
c.2433T>C (p.Ala811=)
c.2391T>C (p.Ala797=)
c.1464T>C (p.Ala488=)
20g.63406815A>TCA511339351KCNQ2c.2502T>A (p.Ala834=)
c.2448T>A (p.Ala816=)
c.1845T>A (p.Ala615=)
c.2355T>A (p.Ala785=)
c.2016T>A (p.Ala672=)
c.2364T>A (p.Ala788=)
c.2241+231T>A (n.2241+231T>A)
c.2205+231T>A (n.2205+231T>A)
c.2394T>A (p.Ala798=)
c.2133+231T>A (n.2133+231T>A)
c.1680-5972T>A (n.1680-5972T>A)
c.2490T>A (p.Ala830=)
c.2556T>A (p.Ala852=)
c.2553T>A (p.Ala851=)
c.2526T>A (p.Ala842=)
c.2472T>A (p.Ala824=)
c.2445T>A (p.Ala815=)
c.2430T>A (p.Ala810=)
c.2037T>A (p.Ala679=)
c.2499T>A (p.Ala833=)
c.2436T>A (p.Ala812=)
c.2433T>A (p.Ala811=)
c.2391T>A (p.Ala797=)
c.1464T>A (p.Ala488=)
20g.63406816G>ACA409637037KCNQ2c.2501C>T (p.Ala834Val)
c.2447C>T (p.Ala816Val)
c.1844C>T (p.Ala615Val)
c.2354C>T (p.Ala785Val)
c.2015C>T (p.Ala672Val)
c.2363C>T (p.Ala788Val)
c.2241+230C>T (n.2241+230C>T)
c.2205+230C>T (n.2205+230C>T)
c.2393C>T (p.Ala798Val)
c.2133+230C>T (n.2133+230C>T)
c.1680-5973C>T (n.1680-5973C>T)
c.2489C>T (p.Ala830Val)
c.2555C>T (p.Ala852Val)
c.2552C>T (p.Ala851Val)
c.2525C>T (p.Ala842Val)
c.2471C>T (p.Ala824Val)
c.2444C>T (p.Ala815Val)
c.2429C>T (p.Ala810Val)
c.2036C>T (p.Ala679Val)
c.2498C>T (p.Ala833Val)
c.2435C>T (p.Ala812Val)
c.2432C>T (p.Ala811Val)
c.2390C>T (p.Ala797Val)
c.1463C>T (p.Ala488Val)
 gnomAD v4
20g.63406816G>CCA409637038KCNQ2c.2501C>G (p.Ala834Gly)
c.2447C>G (p.Ala816Gly)
c.1844C>G (p.Ala615Gly)
c.2354C>G (p.Ala785Gly)
c.2015C>G (p.Ala672Gly)
c.2363C>G (p.Ala788Gly)
c.2241+230C>G (n.2241+230C>G)
c.2205+230C>G (n.2205+230C>G)
c.2393C>G (p.Ala798Gly)
c.2133+230C>G (n.2133+230C>G)
c.1680-5973C>G (n.1680-5973C>G)
c.2489C>G (p.Ala830Gly)
c.2555C>G (p.Ala852Gly)
c.2552C>G (p.Ala851Gly)
c.2525C>G (p.Ala842Gly)
c.2471C>G (p.Ala824Gly)
c.2444C>G (p.Ala815Gly)
c.2429C>G (p.Ala810Gly)
c.2036C>G (p.Ala679Gly)
c.2498C>G (p.Ala833Gly)
c.2435C>G (p.Ala812Gly)
c.2432C>G (p.Ala811Gly)
c.2390C>G (p.Ala797Gly)
c.1463C>G (p.Ala488Gly)
20g.63406816G>TCA409637040KCNQ2c.2501C>A (p.Ala834Asp)
c.2447C>A (p.Ala816Asp)
c.1844C>A (p.Ala615Asp)
c.2354C>A (p.Ala785Asp)
c.2015C>A (p.Ala672Asp)
c.2363C>A (p.Ala788Asp)
c.2241+230C>A (n.2241+230C>A)
c.2205+230C>A (n.2205+230C>A)
c.2393C>A (p.Ala798Asp)
c.2133+230C>A (n.2133+230C>A)
c.1680-5973C>A (n.1680-5973C>A)
c.2489C>A (p.Ala830Asp)
c.2555C>A (p.Ala852Asp)
c.2552C>A (p.Ala851Asp)
c.2525C>A (p.Ala842Asp)
c.2471C>A (p.Ala824Asp)
c.2444C>A (p.Ala815Asp)
c.2429C>A (p.Ala810Asp)
c.2036C>A (p.Ala679Asp)
c.2498C>A (p.Ala833Asp)
c.2435C>A (p.Ala812Asp)
c.2432C>A (p.Ala811Asp)
c.2390C>A (p.Ala797Asp)
c.1463C>A (p.Ala488Asp)
20g.63406817C>ACA409637042KCNQ2c.2500G>T (p.Ala834Ser)
c.2446G>T (p.Ala816Ser)
c.1843G>T (p.Ala615Ser)
c.2353G>T (p.Ala785Ser)
c.2014G>T (p.Ala672Ser)
c.2362G>T (p.Ala788Ser)
c.2241+229G>T (n.2241+229G>T)
c.2205+229G>T (n.2205+229G>T)
c.2392G>T (p.Ala798Ser)
c.2133+229G>T (n.2133+229G>T)
c.1680-5974G>T (n.1680-5974G>T)
c.2488G>T (p.Ala830Ser)
c.2554G>T (p.Ala852Ser)
c.2551G>T (p.Ala851Ser)
c.2524G>T (p.Ala842Ser)
c.2470G>T (p.Ala824Ser)
c.2443G>T (p.Ala815Ser)
c.2428G>T (p.Ala810Ser)
c.2035G>T (p.Ala679Ser)
c.2497G>T (p.Ala833Ser)
c.2434G>T (p.Ala812Ser)
c.2431G>T (p.Ala811Ser)
c.2389G>T (p.Ala797Ser)
c.1462G>T (p.Ala488Ser)
 ClinVar dbSNP gnomAD v4
20g.63406817C=CA2374774258KCNQ2c.2500G= (p.Ala834=)
c.2446G= (p.Ala816=)
c.1843G= (p.Ala615=)
c.2353G= (p.Ala785=)
c.2014G= (p.Ala672=)
c.2362G= (p.Ala788=)
c.2241+229G= (n.2241+229G=)
c.2205+229G= (n.2205+229G=)
c.2392G= (p.Ala798=)
c.2133+229G= (n.2133+229G=)
c.1680-5974G= (n.1680-5974G=)
c.2488G= (p.Ala830=)
c.2554G= (p.Ala852=)
c.2551G= (p.Ala851=)
c.2524G= (p.Ala842=)
c.2470G= (p.Ala824=)
c.2443G= (p.Ala815=)
c.2428G= (p.Ala810=)
c.2035G= (p.Ala679=)
c.2497G= (p.Ala833=)
c.2434G= (p.Ala812=)
c.2431G= (p.Ala811=)
c.2389G= (p.Ala797=)
c.1462G= (p.Ala488=)
20g.63406817C>GCA409637043KCNQ2c.2500G>C (p.Ala834Pro)
c.2446G>C (p.Ala816Pro)
c.1843G>C (p.Ala615Pro)
c.2353G>C (p.Ala785Pro)
c.2014G>C (p.Ala672Pro)
c.2362G>C (p.Ala788Pro)
c.2241+229G>C (n.2241+229G>C)
c.2205+229G>C (n.2205+229G>C)
c.2392G>C (p.Ala798Pro)
c.2133+229G>C (n.2133+229G>C)
c.1680-5974G>C (n.1680-5974G>C)
c.2488G>C (p.Ala830Pro)
c.2554G>C (p.Ala852Pro)
c.2551G>C (p.Ala851Pro)
c.2524G>C (p.Ala842Pro)
c.2470G>C (p.Ala824Pro)
c.2443G>C (p.Ala815Pro)
c.2428G>C (p.Ala810Pro)
c.2035G>C (p.Ala679Pro)
c.2497G>C (p.Ala833Pro)
c.2434G>C (p.Ala812Pro)
c.2431G>C (p.Ala811Pro)
c.2389G>C (p.Ala797Pro)
c.1462G>C (p.Ala488Pro)
20g.63406817C>TCA315528KCNQ2c.2500G>A (p.Ala834Thr)
c.2446G>A (p.Ala816Thr)
c.1843G>A (p.Ala615Thr)
c.2353G>A (p.Ala785Thr)
c.2014G>A (p.Ala672Thr)
c.2362G>A (p.Ala788Thr)
c.2241+229G>A (n.2241+229G>A)
c.2205+229G>A (n.2205+229G>A)
c.2392G>A (p.Ala798Thr)
c.2133+229G>A (n.2133+229G>A)
c.1680-5974G>A (n.1680-5974G>A)
c.2488G>A (p.Ala830Thr)
c.2554G>A (p.Ala852Thr)
c.2551G>A (p.Ala851Thr)
c.2524G>A (p.Ala842Thr)
c.2470G>A (p.Ala824Thr)
c.2443G>A (p.Ala815Thr)
c.2428G>A (p.Ala810Thr)
c.2035G>A (p.Ala679Thr)
c.2497G>A (p.Ala833Thr)
c.2434G>A (p.Ala812Thr)
c.2431G>A (p.Ala811Thr)
c.2389G>A (p.Ala797Thr)
c.1462G>A (p.Ala488Thr)
 ClinVar dbSNP
20g.63406818A=CA2374774259KCNQ2c.2499T= (p.Asp833=)
c.2445T= (p.Asp815=)
c.1842T= (p.Asp614=)
c.2352T= (p.Asp784=)
c.2013T= (p.Asp671=)
c.2361T= (p.Asp787=)
c.2241+228T= (n.2241+228T=)
c.2205+228T= (n.2205+228T=)
c.2391T= (p.Asp797=)
c.2133+228T= (n.2133+228T=)
c.1680-5975T= (n.1680-5975T=)
c.2487T= (p.Asp829=)
c.2553T= (p.Asp851=)
c.2550T= (p.Asp850=)
c.2523T= (p.Asp841=)
c.2469T= (p.Asp823=)
c.2442T= (p.Asp814=)
c.2427T= (p.Asp809=)
c.2034T= (p.Asp678=)
c.2496T= (p.Asp832=)
c.2433T= (p.Asp811=)
c.2430T= (p.Asp810=)
c.2388T= (p.Asp796=)
c.1461T= (p.Asp487=)
20g.63406818A>CCA317421733KCNQ2c.2499T>G (p.Asp833Glu)
c.2445T>G (p.Asp815Glu)
c.1842T>G (p.Asp614Glu)
c.2352T>G (p.Asp784Glu)
c.2013T>G (p.Asp671Glu)
c.2361T>G (p.Asp787Glu)
c.2241+228T>G (n.2241+228T>G)
c.2205+228T>G (n.2205+228T>G)
c.2391T>G (p.Asp797Glu)
c.2133+228T>G (n.2133+228T>G)
c.1680-5975T>G (n.1680-5975T>G)
c.2487T>G (p.Asp829Glu)
c.2553T>G (p.Asp851Glu)
c.2550T>G (p.Asp850Glu)
c.2523T>G (p.Asp841Glu)
c.2469T>G (p.Asp823Glu)
c.2442T>G (p.Asp814Glu)
c.2427T>G (p.Asp809Glu)
c.2034T>G (p.Asp678Glu)
c.2496T>G (p.Asp832Glu)
c.2433T>G (p.Asp811Glu)
c.2430T>G (p.Asp810Glu)
c.2388T>G (p.Asp796Glu)
c.1461T>G (p.Asp487Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63406818A>GCA511339353KCNQ2c.2499T>C (p.Asp833=)
c.2445T>C (p.Asp815=)
c.1842T>C (p.Asp614=)
c.2352T>C (p.Asp784=)
c.2013T>C (p.Asp671=)
c.2361T>C (p.Asp787=)
c.2241+228T>C (n.2241+228T>C)
c.2205+228T>C (n.2205+228T>C)
c.2391T>C (p.Asp797=)
c.2133+228T>C (n.2133+228T>C)
c.1680-5975T>C (n.1680-5975T>C)
c.2487T>C (p.Asp829=)
c.2553T>C (p.Asp851=)
c.2550T>C (p.Asp850=)
c.2523T>C (p.Asp841=)
c.2469T>C (p.Asp823=)
c.2442T>C (p.Asp814=)
c.2427T>C (p.Asp809=)
c.2034T>C (p.Asp678=)
c.2496T>C (p.Asp832=)
c.2433T>C (p.Asp811=)
c.2430T>C (p.Asp810=)
c.2388T>C (p.Asp796=)
c.1461T>C (p.Asp487=)
20g.63406818A>TCA409637047KCNQ2c.2499T>A (p.Asp833Glu)
c.2445T>A (p.Asp815Glu)
c.1842T>A (p.Asp614Glu)
c.2352T>A (p.Asp784Glu)
c.2013T>A (p.Asp671Glu)
c.2361T>A (p.Asp787Glu)
c.2241+228T>A (n.2241+228T>A)
c.2205+228T>A (n.2205+228T>A)
c.2391T>A (p.Asp797Glu)
c.2133+228T>A (n.2133+228T>A)
c.1680-5975T>A (n.1680-5975T>A)
c.2487T>A (p.Asp829Glu)
c.2553T>A (p.Asp851Glu)
c.2550T>A (p.Asp850Glu)
c.2523T>A (p.Asp841Glu)
c.2469T>A (p.Asp823Glu)
c.2442T>A (p.Asp814Glu)
c.2427T>A (p.Asp809Glu)
c.2034T>A (p.Asp678Glu)
c.2496T>A (p.Asp832Glu)
c.2433T>A (p.Asp811Glu)
c.2430T>A (p.Asp810Glu)
c.2388T>A (p.Asp796Glu)
c.1461T>A (p.Asp487Glu)
20g.63406819T>ACA409637050KCNQ2c.2498A>T (p.Asp833Val)
c.2444A>T (p.Asp815Val)
c.1841A>T (p.Asp614Val)
c.2351A>T (p.Asp784Val)
c.2012A>T (p.Asp671Val)
c.2360A>T (p.Asp787Val)
c.2241+227A>T (n.2241+227A>T)
c.2205+227A>T (n.2205+227A>T)
c.2390A>T (p.Asp797Val)
c.2133+227A>T (n.2133+227A>T)
c.1680-5976A>T (n.1680-5976A>T)
c.2486A>T (p.Asp829Val)
c.2552A>T (p.Asp851Val)
c.2549A>T (p.Asp850Val)
c.2522A>T (p.Asp841Val)
c.2468A>T (p.Asp823Val)
c.2441A>T (p.Asp814Val)
c.2426A>T (p.Asp809Val)
c.2033A>T (p.Asp678Val)
c.2495A>T (p.Asp832Val)
c.2432A>T (p.Asp811Val)
c.2429A>T (p.Asp810Val)
c.2387A>T (p.Asp796Val)
c.1460A>T (p.Asp487Val)
20g.63406819T>CCA409637052KCNQ2c.2498A>G (p.Asp833Gly)
c.2444A>G (p.Asp815Gly)
c.1841A>G (p.Asp614Gly)
c.2351A>G (p.Asp784Gly)
c.2012A>G (p.Asp671Gly)
c.2360A>G (p.Asp787Gly)
c.2241+227A>G (n.2241+227A>G)
c.2205+227A>G (n.2205+227A>G)
c.2390A>G (p.Asp797Gly)
c.2133+227A>G (n.2133+227A>G)
c.1680-5976A>G (n.1680-5976A>G)
c.2486A>G (p.Asp829Gly)
c.2552A>G (p.Asp851Gly)
c.2549A>G (p.Asp850Gly)
c.2522A>G (p.Asp841Gly)
c.2468A>G (p.Asp823Gly)
c.2441A>G (p.Asp814Gly)
c.2426A>G (p.Asp809Gly)
c.2033A>G (p.Asp678Gly)
c.2495A>G (p.Asp832Gly)
c.2432A>G (p.Asp811Gly)
c.2429A>G (p.Asp810Gly)
c.2387A>G (p.Asp796Gly)
c.1460A>G (p.Asp487Gly)
20g.63406819T>GCA409637054KCNQ2c.2498A>C (p.Asp833Ala)
c.2444A>C (p.Asp815Ala)
c.1841A>C (p.Asp614Ala)
c.2351A>C (p.Asp784Ala)
c.2012A>C (p.Asp671Ala)
c.2360A>C (p.Asp787Ala)
c.2241+227A>C (n.2241+227A>C)
c.2205+227A>C (n.2205+227A>C)
c.2390A>C (p.Asp797Ala)
c.2133+227A>C (n.2133+227A>C)
c.1680-5976A>C (n.1680-5976A>C)
c.2486A>C (p.Asp829Ala)
c.2552A>C (p.Asp851Ala)
c.2549A>C (p.Asp850Ala)
c.2522A>C (p.Asp841Ala)
c.2468A>C (p.Asp823Ala)
c.2441A>C (p.Asp814Ala)
c.2426A>C (p.Asp809Ala)
c.2033A>C (p.Asp678Ala)
c.2495A>C (p.Asp832Ala)
c.2432A>C (p.Asp811Ala)
c.2429A>C (p.Asp810Ala)
c.2387A>C (p.Asp796Ala)
c.1460A>C (p.Asp487Ala)
20g.63406820C>ACA409637056KCNQ2c.2497G>T (p.Asp833Tyr)
c.2443G>T (p.Asp815Tyr)
c.1840G>T (p.Asp614Tyr)
c.2350G>T (p.Asp784Tyr)
c.2011G>T (p.Asp671Tyr)
c.2359G>T (p.Asp787Tyr)
c.2241+226G>T (n.2241+226G>T)
c.2205+226G>T (n.2205+226G>T)
c.2389G>T (p.Asp797Tyr)
c.2133+226G>T (n.2133+226G>T)
c.1680-5977G>T (n.1680-5977G>T)
c.2485G>T (p.Asp829Tyr)
c.2551G>T (p.Asp851Tyr)
c.2548G>T (p.Asp850Tyr)
c.2521G>T (p.Asp841Tyr)
c.2467G>T (p.Asp823Tyr)
c.2440G>T (p.Asp814Tyr)
c.2425G>T (p.Asp809Tyr)
c.2032G>T (p.Asp678Tyr)
c.2494G>T (p.Asp832Tyr)
c.2431G>T (p.Asp811Tyr)
c.2428G>T (p.Asp810Tyr)
c.2386G>T (p.Asp796Tyr)
c.1459G>T (p.Asp487Tyr)
20g.63406820C>GCA409637059KCNQ2c.2497G>C (p.Asp833His)
c.2443G>C (p.Asp815His)
c.1840G>C (p.Asp614His)
c.2350G>C (p.Asp784His)
c.2011G>C (p.Asp671His)
c.2359G>C (p.Asp787His)
c.2241+226G>C (n.2241+226G>C)
c.2205+226G>C (n.2205+226G>C)
c.2389G>C (p.Asp797His)
c.2133+226G>C (n.2133+226G>C)
c.1680-5977G>C (n.1680-5977G>C)
c.2485G>C (p.Asp829His)
c.2551G>C (p.Asp851His)
c.2548G>C (p.Asp850His)
c.2521G>C (p.Asp841His)
c.2467G>C (p.Asp823His)
c.2440G>C (p.Asp814His)
c.2425G>C (p.Asp809His)
c.2032G>C (p.Asp678His)
c.2494G>C (p.Asp832His)
c.2431G>C (p.Asp811His)
c.2428G>C (p.Asp810His)
c.2386G>C (p.Asp796His)
c.1459G>C (p.Asp487His)
20g.63406820C>TCA409637057KCNQ2c.2497G>A (p.Asp833Asn)
c.2443G>A (p.Asp815Asn)
c.1840G>A (p.Asp614Asn)
c.2350G>A (p.Asp784Asn)
c.2011G>A (p.Asp671Asn)
c.2359G>A (p.Asp787Asn)
c.2241+226G>A (n.2241+226G>A)
c.2205+226G>A (n.2205+226G>A)
c.2389G>A (p.Asp797Asn)
c.2133+226G>A (n.2133+226G>A)
c.1680-5977G>A (n.1680-5977G>A)
c.2485G>A (p.Asp829Asn)
c.2551G>A (p.Asp851Asn)
c.2548G>A (p.Asp850Asn)
c.2521G>A (p.Asp841Asn)
c.2467G>A (p.Asp823Asn)
c.2440G>A (p.Asp814Asn)
c.2425G>A (p.Asp809Asn)
c.2032G>A (p.Asp678Asn)
c.2494G>A (p.Asp832Asn)
c.2431G>A (p.Asp811Asn)
c.2428G>A (p.Asp810Asn)
c.2386G>A (p.Asp796Asn)
c.1459G>A (p.Asp487Asn)
20g.63406821C>ACA511339360KCNQ2c.2496G>T (p.Leu832=)
c.2442G>T (p.Leu814=)
c.1839G>T (p.Leu613=)
c.2349G>T (p.Leu783=)
c.2010G>T (p.Leu670=)
c.2358G>T (p.Leu786=)
c.2241+225G>T (n.2241+225G>T)
c.2205+225G>T (n.2205+225G>T)
c.2388G>T (p.Leu796=)
c.2133+225G>T (n.2133+225G>T)
c.1680-5978G>T (n.1680-5978G>T)
c.2484G>T (p.Leu828=)
c.2550G>T (p.Leu850=)
c.2547G>T (p.Leu849=)
c.2520G>T (p.Leu840=)
c.2466G>T (p.Leu822=)
c.2439G>T (p.Leu813=)
c.2424G>T (p.Leu808=)
c.2031G>T (p.Leu677=)
c.2493G>T (p.Leu831=)
c.2430G>T (p.Leu810=)
c.2427G>T (p.Leu809=)
c.2385G>T (p.Leu795=)
c.1458G>T (p.Leu486=)
20g.63406821C>GCA511339363KCNQ2c.2496G>C (p.Leu832=)
c.2442G>C (p.Leu814=)
c.1839G>C (p.Leu613=)
c.2349G>C (p.Leu783=)
c.2010G>C (p.Leu670=)
c.2358G>C (p.Leu786=)
c.2241+225G>C (n.2241+225G>C)
c.2205+225G>C (n.2205+225G>C)
c.2388G>C (p.Leu796=)
c.2133+225G>C (n.2133+225G>C)
c.1680-5978G>C (n.1680-5978G>C)
c.2484G>C (p.Leu828=)
c.2550G>C (p.Leu850=)
c.2547G>C (p.Leu849=)
c.2520G>C (p.Leu840=)
c.2466G>C (p.Leu822=)
c.2439G>C (p.Leu813=)
c.2424G>C (p.Leu808=)
c.2031G>C (p.Leu677=)
c.2493G>C (p.Leu831=)
c.2430G>C (p.Leu810=)
c.2427G>C (p.Leu809=)
c.2385G>C (p.Leu795=)
c.1458G>C (p.Leu486=)
20g.63406821C>TCA511339362KCNQ2c.2496G>A (p.Leu832=)
c.2442G>A (p.Leu814=)
c.1839G>A (p.Leu613=)
c.2349G>A (p.Leu783=)
c.2010G>A (p.Leu670=)
c.2358G>A (p.Leu786=)
c.2241+225G>A (n.2241+225G>A)
c.2205+225G>A (n.2205+225G>A)
c.2388G>A (p.Leu796=)
c.2133+225G>A (n.2133+225G>A)
c.1680-5978G>A (n.1680-5978G>A)
c.2484G>A (p.Leu828=)
c.2550G>A (p.Leu850=)
c.2547G>A (p.Leu849=)
c.2520G>A (p.Leu840=)
c.2466G>A (p.Leu822=)
c.2439G>A (p.Leu813=)
c.2424G>A (p.Leu808=)
c.2031G>A (p.Leu677=)
c.2493G>A (p.Leu831=)
c.2430G>A (p.Leu810=)
c.2427G>A (p.Leu809=)
c.2385G>A (p.Leu795=)
c.1458G>A (p.Leu486=)
20g.63406822A=CA2374774260KCNQ2c.2495T= (p.Leu832=)
c.2441T= (p.Leu814=)
c.1838T= (p.Leu613=)
c.2348T= (p.Leu783=)
c.2009T= (p.Leu670=)
c.2357T= (p.Leu786=)
c.2241+224T= (n.2241+224T=)
c.2205+224T= (n.2205+224T=)
c.2387T= (p.Leu796=)
c.2133+224T= (n.2133+224T=)
c.1680-5979T= (n.1680-5979T=)
c.2483T= (p.Leu828=)
c.2549T= (p.Leu850=)
c.2546T= (p.Leu849=)
c.2519T= (p.Leu840=)
c.2465T= (p.Leu822=)
c.2438T= (p.Leu813=)
c.2423T= (p.Leu808=)
c.2030T= (p.Leu677=)
c.2492T= (p.Leu831=)
c.2429T= (p.Leu810=)
c.2426T= (p.Leu809=)
c.2384T= (p.Leu795=)
c.1457T= (p.Leu486=)
20g.63406822A>CCA317421739KCNQ2c.2495T>G (p.Leu832Arg)
c.2441T>G (p.Leu814Arg)
c.1838T>G (p.Leu613Arg)
c.2348T>G (p.Leu783Arg)
c.2009T>G (p.Leu670Arg)
c.2357T>G (p.Leu786Arg)
c.2241+224T>G (n.2241+224T>G)
c.2205+224T>G (n.2205+224T>G)
c.2387T>G (p.Leu796Arg)
c.2133+224T>G (n.2133+224T>G)
c.1680-5979T>G (n.1680-5979T>G)
c.2483T>G (p.Leu828Arg)
c.2549T>G (p.Leu850Arg)
c.2546T>G (p.Leu849Arg)
c.2519T>G (p.Leu840Arg)
c.2465T>G (p.Leu822Arg)
c.2438T>G (p.Leu813Arg)
c.2423T>G (p.Leu808Arg)
c.2030T>G (p.Leu677Arg)
c.2492T>G (p.Leu831Arg)
c.2429T>G (p.Leu810Arg)
c.2426T>G (p.Leu809Arg)
c.2384T>G (p.Leu795Arg)
c.1457T>G (p.Leu486Arg)
 dbSNP
20g.63406822A>GCA409637062KCNQ2c.2495T>C (p.Leu832Pro)
c.2441T>C (p.Leu814Pro)
c.1838T>C (p.Leu613Pro)
c.2348T>C (p.Leu783Pro)
c.2009T>C (p.Leu670Pro)
c.2357T>C (p.Leu786Pro)
c.2241+224T>C (n.2241+224T>C)
c.2205+224T>C (n.2205+224T>C)
c.2387T>C (p.Leu796Pro)
c.2133+224T>C (n.2133+224T>C)
c.1680-5979T>C (n.1680-5979T>C)
c.2483T>C (p.Leu828Pro)
c.2549T>C (p.Leu850Pro)
c.2546T>C (p.Leu849Pro)
c.2519T>C (p.Leu840Pro)
c.2465T>C (p.Leu822Pro)
c.2438T>C (p.Leu813Pro)
c.2423T>C (p.Leu808Pro)
c.2030T>C (p.Leu677Pro)
c.2492T>C (p.Leu831Pro)
c.2429T>C (p.Leu810Pro)
c.2426T>C (p.Leu809Pro)
c.2384T>C (p.Leu795Pro)
c.1457T>C (p.Leu486Pro)
20g.63406822A>TCA409637064KCNQ2c.2495T>A (p.Leu832Gln)
c.2441T>A (p.Leu814Gln)
c.1838T>A (p.Leu613Gln)
c.2348T>A (p.Leu783Gln)
c.2009T>A (p.Leu670Gln)
c.2357T>A (p.Leu786Gln)
c.2241+224T>A (n.2241+224T>A)
c.2205+224T>A (n.2205+224T>A)
c.2387T>A (p.Leu796Gln)
c.2133+224T>A (n.2133+224T>A)
c.1680-5979T>A (n.1680-5979T>A)
c.2483T>A (p.Leu828Gln)
c.2549T>A (p.Leu850Gln)
c.2546T>A (p.Leu849Gln)
c.2519T>A (p.Leu840Gln)
c.2465T>A (p.Leu822Gln)
c.2438T>A (p.Leu813Gln)
c.2423T>A (p.Leu808Gln)
c.2030T>A (p.Leu677Gln)
c.2492T>A (p.Leu831Gln)
c.2429T>A (p.Leu810Gln)
c.2426T>A (p.Leu809Gln)
c.2384T>A (p.Leu795Gln)
c.1457T>A (p.Leu486Gln)
20g.63406823G>ACA511339366KCNQ2c.2494C>T (p.Leu832=)
c.2440C>T (p.Leu814=)
c.1837C>T (p.Leu613=)
c.2347C>T (p.Leu783=)
c.2008C>T (p.Leu670=)
c.2356C>T (p.Leu786=)
c.2241+223C>T (n.2241+223C>T)
c.2205+223C>T (n.2205+223C>T)
c.2386C>T (p.Leu796=)
c.2133+223C>T (n.2133+223C>T)
c.1680-5980C>T (n.1680-5980C>T)
c.2482C>T (p.Leu828=)
c.2548C>T (p.Leu850=)
c.2545C>T (p.Leu849=)
c.2518C>T (p.Leu840=)
c.2464C>T (p.Leu822=)
c.2437C>T (p.Leu813=)
c.2422C>T (p.Leu808=)
c.2029C>T (p.Leu677=)
c.2491C>T (p.Leu831=)
c.2428C>T (p.Leu810=)
c.2425C>T (p.Leu809=)
c.2383C>T (p.Leu795=)
c.1456C>T (p.Leu486=)
 ClinVar
20g.63406823G>CCA409637067KCNQ2c.2494C>G (p.Leu832Val)
c.2440C>G (p.Leu814Val)
c.1837C>G (p.Leu613Val)
c.2347C>G (p.Leu783Val)
c.2008C>G (p.Leu670Val)
c.2356C>G (p.Leu786Val)
c.2241+223C>G (n.2241+223C>G)
c.2205+223C>G (n.2205+223C>G)
c.2386C>G (p.Leu796Val)
c.2133+223C>G (n.2133+223C>G)
c.1680-5980C>G (n.1680-5980C>G)
c.2482C>G (p.Leu828Val)
c.2548C>G (p.Leu850Val)
c.2545C>G (p.Leu849Val)
c.2518C>G (p.Leu840Val)
c.2464C>G (p.Leu822Val)
c.2437C>G (p.Leu813Val)
c.2422C>G (p.Leu808Val)
c.2029C>G (p.Leu677Val)
c.2491C>G (p.Leu831Val)
c.2428C>G (p.Leu810Val)
c.2425C>G (p.Leu809Val)
c.2383C>G (p.Leu795Val)
c.1456C>G (p.Leu486Val)
20g.63406823G>TCA409637068KCNQ2c.2494C>A (p.Leu832Met)
c.2440C>A (p.Leu814Met)
c.1837C>A (p.Leu613Met)
c.2347C>A (p.Leu783Met)
c.2008C>A (p.Leu670Met)
c.2356C>A (p.Leu786Met)
c.2241+223C>A (n.2241+223C>A)
c.2205+223C>A (n.2205+223C>A)
c.2386C>A (p.Leu796Met)
c.2133+223C>A (n.2133+223C>A)
c.1680-5980C>A (n.1680-5980C>A)
c.2482C>A (p.Leu828Met)
c.2548C>A (p.Leu850Met)
c.2545C>A (p.Leu849Met)
c.2518C>A (p.Leu840Met)
c.2464C>A (p.Leu822Met)
c.2437C>A (p.Leu813Met)
c.2422C>A (p.Leu808Met)
c.2029C>A (p.Leu677Met)
c.2491C>A (p.Leu831Met)
c.2428C>A (p.Leu810Met)
c.2425C>A (p.Leu809Met)
c.2383C>A (p.Leu795Met)
c.1456C>A (p.Leu486Met)
20g.63406824G>ACA511339368KCNQ2c.2493C>T (p.Asn831=)
c.2439C>T (p.Asn813=)
c.1836C>T (p.Asn612=)
c.2346C>T (p.Asn782=)
c.2007C>T (p.Asn669=)
c.2355C>T (p.Asn785=)
c.2241+222C>T (n.2241+222C>T)
c.2205+222C>T (n.2205+222C>T)
c.2385C>T (p.Asn795=)
c.2133+222C>T (n.2133+222C>T)
c.1680-5981C>T (n.1680-5981C>T)
c.2481C>T (p.Asn827=)
c.2547C>T (p.Asn849=)
c.2544C>T (p.Asn848=)
c.2517C>T (p.Asn839=)
c.2463C>T (p.Asn821=)
c.2436C>T (p.Asn812=)
c.2421C>T (p.Asn807=)
c.2028C>T (p.Asn676=)
c.2490C>T (p.Asn830=)
c.2427C>T (p.Asn809=)
c.2424C>T (p.Asn808=)
c.2382C>T (p.Asn794=)
c.1455C>T (p.Asn485=)
 dbSNP gnomAD v4
20g.63406824G>CCA409637069KCNQ2c.2493C>G (p.Asn831Lys)
c.2439C>G (p.Asn813Lys)
c.1836C>G (p.Asn612Lys)
c.2346C>G (p.Asn782Lys)
c.2007C>G (p.Asn669Lys)
c.2355C>G (p.Asn785Lys)
c.2241+222C>G (n.2241+222C>G)
c.2205+222C>G (n.2205+222C>G)
c.2385C>G (p.Asn795Lys)
c.2133+222C>G (n.2133+222C>G)
c.1680-5981C>G (n.1680-5981C>G)
c.2481C>G (p.Asn827Lys)
c.2547C>G (p.Asn849Lys)
c.2544C>G (p.Asn848Lys)
c.2517C>G (p.Asn839Lys)
c.2463C>G (p.Asn821Lys)
c.2436C>G (p.Asn812Lys)
c.2421C>G (p.Asn807Lys)
c.2028C>G (p.Asn676Lys)
c.2490C>G (p.Asn830Lys)
c.2427C>G (p.Asn809Lys)
c.2424C>G (p.Asn808Lys)
c.2382C>G (p.Asn794Lys)
c.1455C>G (p.Asn485Lys)
 gnomAD v4
20g.63406824G>TCA409637071KCNQ2c.2493C>A (p.Asn831Lys)
c.2439C>A (p.Asn813Lys)
c.1836C>A (p.Asn612Lys)
c.2346C>A (p.Asn782Lys)
c.2007C>A (p.Asn669Lys)
c.2355C>A (p.Asn785Lys)
c.2241+222C>A (n.2241+222C>A)
c.2205+222C>A (n.2205+222C>A)
c.2385C>A (p.Asn795Lys)
c.2133+222C>A (n.2133+222C>A)
c.1680-5981C>A (n.1680-5981C>A)
c.2481C>A (p.Asn827Lys)
c.2547C>A (p.Asn849Lys)
c.2544C>A (p.Asn848Lys)
c.2517C>A (p.Asn839Lys)
c.2463C>A (p.Asn821Lys)
c.2436C>A (p.Asn812Lys)
c.2421C>A (p.Asn807Lys)
c.2028C>A (p.Asn676Lys)
c.2490C>A (p.Asn830Lys)
c.2427C>A (p.Asn809Lys)
c.2424C>A (p.Asn808Lys)
c.2382C>A (p.Asn794Lys)
c.1455C>A (p.Asn485Lys)
 ClinVar COSMIC
20g.63406825T>ACA409637072KCNQ2c.2492A>T (p.Asn831Ile)
c.2438A>T (p.Asn813Ile)
c.1835A>T (p.Asn612Ile)
c.2345A>T (p.Asn782Ile)
c.2006A>T (p.Asn669Ile)
c.2354A>T (p.Asn785Ile)
c.2241+221A>T (n.2241+221A>T)
c.2205+221A>T (n.2205+221A>T)
c.2384A>T (p.Asn795Ile)
c.2133+221A>T (n.2133+221A>T)
c.1680-5982A>T (n.1680-5982A>T)
c.2480A>T (p.Asn827Ile)
c.2546A>T (p.Asn849Ile)
c.2543A>T (p.Asn848Ile)
c.2516A>T (p.Asn839Ile)
c.2462A>T (p.Asn821Ile)
c.2435A>T (p.Asn812Ile)
c.2420A>T (p.Asn807Ile)
c.2027A>T (p.Asn676Ile)
c.2489A>T (p.Asn830Ile)
c.2426A>T (p.Asn809Ile)
c.2423A>T (p.Asn808Ile)
c.2381A>T (p.Asn794Ile)
c.1454A>T (p.Asn485Ile)
20g.63406825T>CCA317421743KCNQ2c.2492A>G (p.Asn831Ser)
c.2438A>G (p.Asn813Ser)
c.1835A>G (p.Asn612Ser)
c.2345A>G (p.Asn782Ser)
c.2006A>G (p.Asn669Ser)
c.2354A>G (p.Asn785Ser)
c.2241+221A>G (n.2241+221A>G)
c.2205+221A>G (n.2205+221A>G)
c.2384A>G (p.Asn795Ser)
c.2133+221A>G (n.2133+221A>G)
c.1680-5982A>G (n.1680-5982A>G)
c.2480A>G (p.Asn827Ser)
c.2546A>G (p.Asn849Ser)
c.2543A>G (p.Asn848Ser)
c.2516A>G (p.Asn839Ser)
c.2462A>G (p.Asn821Ser)
c.2435A>G (p.Asn812Ser)
c.2420A>G (p.Asn807Ser)
c.2027A>G (p.Asn676Ser)
c.2489A>G (p.Asn830Ser)
c.2426A>G (p.Asn809Ser)
c.2423A>G (p.Asn808Ser)
c.2381A>G (p.Asn794Ser)
c.1454A>G (p.Asn485Ser)
 dbSNP gnomAD v2 gnomAD v4
20g.63406825T>GCA409637075KCNQ2c.2492A>C (p.Asn831Thr)
c.2438A>C (p.Asn813Thr)
c.1835A>C (p.Asn612Thr)
c.2345A>C (p.Asn782Thr)
c.2006A>C (p.Asn669Thr)
c.2354A>C (p.Asn785Thr)
c.2241+221A>C (n.2241+221A>C)
c.2205+221A>C (n.2205+221A>C)
c.2384A>C (p.Asn795Thr)
c.2133+221A>C (n.2133+221A>C)
c.1680-5982A>C (n.1680-5982A>C)
c.2480A>C (p.Asn827Thr)
c.2546A>C (p.Asn849Thr)
c.2543A>C (p.Asn848Thr)
c.2516A>C (p.Asn839Thr)
c.2462A>C (p.Asn821Thr)
c.2435A>C (p.Asn812Thr)
c.2420A>C (p.Asn807Thr)
c.2027A>C (p.Asn676Thr)
c.2489A>C (p.Asn830Thr)
c.2426A>C (p.Asn809Thr)
c.2423A>C (p.Asn808Thr)
c.2381A>C (p.Asn794Thr)
c.1454A>C (p.Asn485Thr)
20g.63406825T=CA2374774261KCNQ2c.2492A= (p.Asn831=)
c.2438A= (p.Asn813=)
c.1835A= (p.Asn612=)
c.2345A= (p.Asn782=)
c.2006A= (p.Asn669=)
c.2354A= (p.Asn785=)
c.2241+221A= (n.2241+221A=)
c.2205+221A= (n.2205+221A=)
c.2384A= (p.Asn795=)
c.2133+221A= (n.2133+221A=)
c.1680-5982A= (n.1680-5982A=)
c.2480A= (p.Asn827=)
c.2546A= (p.Asn849=)
c.2543A= (p.Asn848=)
c.2516A= (p.Asn839=)
c.2462A= (p.Asn821=)
c.2435A= (p.Asn812=)
c.2420A= (p.Asn807=)
c.2027A= (p.Asn676=)
c.2489A= (p.Asn830=)
c.2426A= (p.Asn809=)
c.2423A= (p.Asn808=)
c.2381A= (p.Asn794=)
c.1454A= (p.Asn485=)
20g.63406826T>ACA409637077KCNQ2c.2491A>T (p.Asn831Tyr)
c.2437A>T (p.Asn813Tyr)
c.1834A>T (p.Asn612Tyr)
c.2344A>T (p.Asn782Tyr)
c.2005A>T (p.Asn669Tyr)
c.2353A>T (p.Asn785Tyr)
c.2241+220A>T (n.2241+220A>T)
c.2205+220A>T (n.2205+220A>T)
c.2383A>T (p.Asn795Tyr)
c.2133+220A>T (n.2133+220A>T)
c.1680-5983A>T (n.1680-5983A>T)
c.2479A>T (p.Asn827Tyr)
c.2545A>T (p.Asn849Tyr)
c.2542A>T (p.Asn848Tyr)
c.2515A>T (p.Asn839Tyr)
c.2461A>T (p.Asn821Tyr)
c.2434A>T (p.Asn812Tyr)
c.2419A>T (p.Asn807Tyr)
c.2026A>T (p.Asn676Tyr)
c.2488A>T (p.Asn830Tyr)
c.2425A>T (p.Asn809Tyr)
c.2422A>T (p.Asn808Tyr)
c.2380A>T (p.Asn794Tyr)
c.1453A>T (p.Asn485Tyr)
20g.63406826T>CCA409637079KCNQ2c.2491A>G (p.Asn831Asp)
c.2437A>G (p.Asn813Asp)
c.1834A>G (p.Asn612Asp)
c.2344A>G (p.Asn782Asp)
c.2005A>G (p.Asn669Asp)
c.2353A>G (p.Asn785Asp)
c.2241+220A>G (n.2241+220A>G)
c.2205+220A>G (n.2205+220A>G)
c.2383A>G (p.Asn795Asp)
c.2133+220A>G (n.2133+220A>G)
c.1680-5983A>G (n.1680-5983A>G)
c.2479A>G (p.Asn827Asp)
c.2545A>G (p.Asn849Asp)
c.2542A>G (p.Asn848Asp)
c.2515A>G (p.Asn839Asp)
c.2461A>G (p.Asn821Asp)
c.2434A>G (p.Asn812Asp)
c.2419A>G (p.Asn807Asp)
c.2026A>G (p.Asn676Asp)
c.2488A>G (p.Asn830Asp)
c.2425A>G (p.Asn809Asp)
c.2422A>G (p.Asn808Asp)
c.2380A>G (p.Asn794Asp)
c.1453A>G (p.Asn485Asp)
20g.63406826T>GCA409637081KCNQ2c.2491A>C (p.Asn831His)
c.2437A>C (p.Asn813His)
c.1834A>C (p.Asn612His)
c.2344A>C (p.Asn782His)
c.2005A>C (p.Asn669His)
c.2353A>C (p.Asn785His)
c.2241+220A>C (n.2241+220A>C)
c.2205+220A>C (n.2205+220A>C)
c.2383A>C (p.Asn795His)
c.2133+220A>C (n.2133+220A>C)
c.1680-5983A>C (n.1680-5983A>C)
c.2479A>C (p.Asn827His)
c.2545A>C (p.Asn849His)
c.2542A>C (p.Asn848His)
c.2515A>C (p.Asn839His)
c.2461A>C (p.Asn821His)
c.2434A>C (p.Asn812His)
c.2419A>C (p.Asn807His)
c.2026A>C (p.Asn676His)
c.2488A>C (p.Asn830His)
c.2425A>C (p.Asn809His)
c.2422A>C (p.Asn808His)
c.2380A>C (p.Asn794His)
c.1453A>C (p.Asn485His)
20g.63406827C>ACA409637083KCNQ2c.2490G>T (p.Glu830Asp)
c.2436G>T (p.Glu812Asp)
c.1833G>T (p.Glu611Asp)
c.2343G>T (p.Glu781Asp)
c.2004G>T (p.Glu668Asp)
c.2352G>T (p.Glu784Asp)
c.2241+219G>T (n.2241+219G>T)
c.2205+219G>T (n.2205+219G>T)
c.2382G>T (p.Glu794Asp)
c.2133+219G>T (n.2133+219G>T)
c.1680-5984G>T (n.1680-5984G>T)
c.2478G>T (p.Glu826Asp)
c.2544G>T (p.Glu848Asp)
c.2541G>T (p.Glu847Asp)
c.2514G>T (p.Glu838Asp)
c.2460G>T (p.Glu820Asp)
c.2433G>T (p.Glu811Asp)
c.2418G>T (p.Glu806Asp)
c.2025G>T (p.Glu675Asp)
c.2487G>T (p.Glu829Asp)
c.2424G>T (p.Glu808Asp)
c.2421G>T (p.Glu807Asp)
c.2379G>T (p.Glu793Asp)
c.1452G>T (p.Glu484Asp)
20g.63406827C>GCA409637084KCNQ2c.2490G>C (p.Glu830Asp)
c.2436G>C (p.Glu812Asp)
c.1833G>C (p.Glu611Asp)
c.2343G>C (p.Glu781Asp)
c.2004G>C (p.Glu668Asp)
c.2352G>C (p.Glu784Asp)
c.2241+219G>C (n.2241+219G>C)
c.2205+219G>C (n.2205+219G>C)
c.2382G>C (p.Glu794Asp)
c.2133+219G>C (n.2133+219G>C)
c.1680-5984G>C (n.1680-5984G>C)
c.2478G>C (p.Glu826Asp)
c.2544G>C (p.Glu848Asp)
c.2541G>C (p.Glu847Asp)
c.2514G>C (p.Glu838Asp)
c.2460G>C (p.Glu820Asp)
c.2433G>C (p.Glu811Asp)
c.2418G>C (p.Glu806Asp)
c.2025G>C (p.Glu675Asp)
c.2487G>C (p.Glu829Asp)
c.2424G>C (p.Glu808Asp)
c.2421G>C (p.Glu807Asp)
c.2379G>C (p.Glu793Asp)
c.1452G>C (p.Glu484Asp)
20g.63406827C>TCA511339374KCNQ2c.2490G>A (p.Glu830=)
c.2436G>A (p.Glu812=)
c.1833G>A (p.Glu611=)
c.2343G>A (p.Glu781=)
c.2004G>A (p.Glu668=)
c.2352G>A (p.Glu784=)
c.2241+219G>A (n.2241+219G>A)
c.2205+219G>A (n.2205+219G>A)
c.2382G>A (p.Glu794=)
c.2133+219G>A (n.2133+219G>A)
c.1680-5984G>A (n.1680-5984G>A)
c.2478G>A (p.Glu826=)
c.2544G>A (p.Glu848=)
c.2541G>A (p.Glu847=)
c.2514G>A (p.Glu838=)
c.2460G>A (p.Glu820=)
c.2433G>A (p.Glu811=)
c.2418G>A (p.Glu806=)
c.2025G>A (p.Glu675=)
c.2487G>A (p.Glu829=)
c.2424G>A (p.Glu808=)
c.2421G>A (p.Glu807=)
c.2379G>A (p.Glu793=)
c.1452G>A (p.Glu484=)
20g.63406828T>ACA409637087KCNQ2c.2489A>T (p.Glu830Val)
c.2435A>T (p.Glu812Val)
c.1832A>T (p.Glu611Val)
c.2342A>T (p.Glu781Val)
c.2003A>T (p.Glu668Val)
c.2351A>T (p.Glu784Val)
c.2241+218A>T (n.2241+218A>T)
c.2205+218A>T (n.2205+218A>T)
c.2381A>T (p.Glu794Val)
c.2133+218A>T (n.2133+218A>T)
c.1680-5985A>T (n.1680-5985A>T)
c.2477A>T (p.Glu826Val)
c.2543A>T (p.Glu848Val)
c.2540A>T (p.Glu847Val)
c.2513A>T (p.Glu838Val)
c.2459A>T (p.Glu820Val)
c.2432A>T (p.Glu811Val)
c.2417A>T (p.Glu806Val)
c.2024A>T (p.Glu675Val)
c.2486A>T (p.Glu829Val)
c.2423A>T (p.Glu808Val)
c.2420A>T (p.Glu807Val)
c.2378A>T (p.Glu793Val)
c.1451A>T (p.Glu484Val)
20g.63406828T>CCA409637089KCNQ2c.2489A>G (p.Glu830Gly)
c.2435A>G (p.Glu812Gly)
c.1832A>G (p.Glu611Gly)
c.2342A>G (p.Glu781Gly)
c.2003A>G (p.Glu668Gly)
c.2351A>G (p.Glu784Gly)
c.2241+218A>G (n.2241+218A>G)
c.2205+218A>G (n.2205+218A>G)
c.2381A>G (p.Glu794Gly)
c.2133+218A>G (n.2133+218A>G)
c.1680-5985A>G (n.1680-5985A>G)
c.2477A>G (p.Glu826Gly)
c.2543A>G (p.Glu848Gly)
c.2540A>G (p.Glu847Gly)
c.2513A>G (p.Glu838Gly)
c.2459A>G (p.Glu820Gly)
c.2432A>G (p.Glu811Gly)
c.2417A>G (p.Glu806Gly)
c.2024A>G (p.Glu675Gly)
c.2486A>G (p.Glu829Gly)
c.2423A>G (p.Glu808Gly)
c.2420A>G (p.Glu807Gly)
c.2378A>G (p.Glu793Gly)
c.1451A>G (p.Glu484Gly)
20g.63406828T>GCA409637090KCNQ2c.2489A>C (p.Glu830Ala)
c.2435A>C (p.Glu812Ala)
c.1832A>C (p.Glu611Ala)
c.2342A>C (p.Glu781Ala)
c.2003A>C (p.Glu668Ala)
c.2351A>C (p.Glu784Ala)
c.2241+218A>C (n.2241+218A>C)
c.2205+218A>C (n.2205+218A>C)
c.2381A>C (p.Glu794Ala)
c.2133+218A>C (n.2133+218A>C)
c.1680-5985A>C (n.1680-5985A>C)
c.2477A>C (p.Glu826Ala)
c.2543A>C (p.Glu848Ala)
c.2540A>C (p.Glu847Ala)
c.2513A>C (p.Glu838Ala)
c.2459A>C (p.Glu820Ala)
c.2432A>C (p.Glu811Ala)
c.2417A>C (p.Glu806Ala)
c.2024A>C (p.Glu675Ala)
c.2486A>C (p.Glu829Ala)
c.2423A>C (p.Glu808Ala)
c.2420A>C (p.Glu807Ala)
c.2378A>C (p.Glu793Ala)
c.1451A>C (p.Glu484Ala)
 ClinVar
20g.63406829C>ACA409637093KCNQ2c.2488G>T (p.Glu830Ter)
c.2434G>T (p.Glu812Ter)
c.1831G>T (p.Glu611Ter)
c.2341G>T (p.Glu781Ter)
c.2002G>T (p.Glu668Ter)
c.2350G>T (p.Glu784Ter)
c.2241+217G>T (n.2241+217G>T)
c.2205+217G>T (n.2205+217G>T)
c.2380G>T (p.Glu794Ter)
c.2133+217G>T (n.2133+217G>T)
c.1680-5986G>T (n.1680-5986G>T)
c.2476G>T (p.Glu826Ter)
c.2542G>T (p.Glu848Ter)
c.2539G>T (p.Glu847Ter)
c.2512G>T (p.Glu838Ter)
c.2458G>T (p.Glu820Ter)
c.2431G>T (p.Glu811Ter)
c.2416G>T (p.Glu806Ter)
c.2023G>T (p.Glu675Ter)
c.2485G>T (p.Glu829Ter)
c.2422G>T (p.Glu808Ter)
c.2419G>T (p.Glu807Ter)
c.2377G>T (p.Glu793Ter)
c.1450G>T (p.Glu484Ter)
20g.63406829C>GCA409637095KCNQ2c.2488G>C (p.Glu830Gln)
c.2434G>C (p.Glu812Gln)
c.1831G>C (p.Glu611Gln)
c.2341G>C (p.Glu781Gln)
c.2002G>C (p.Glu668Gln)
c.2350G>C (p.Glu784Gln)
c.2241+217G>C (n.2241+217G>C)
c.2205+217G>C (n.2205+217G>C)
c.2380G>C (p.Glu794Gln)
c.2133+217G>C (n.2133+217G>C)
c.1680-5986G>C (n.1680-5986G>C)
c.2476G>C (p.Glu826Gln)
c.2542G>C (p.Glu848Gln)
c.2539G>C (p.Glu847Gln)
c.2512G>C (p.Glu838Gln)
c.2458G>C (p.Glu820Gln)
c.2431G>C (p.Glu811Gln)
c.2416G>C (p.Glu806Gln)
c.2023G>C (p.Glu675Gln)
c.2485G>C (p.Glu829Gln)
c.2422G>C (p.Glu808Gln)
c.2419G>C (p.Glu807Gln)
c.2377G>C (p.Glu793Gln)
c.1450G>C (p.Glu484Gln)
20g.63406829C>TCA409637096KCNQ2c.2488G>A (p.Glu830Lys)
c.2434G>A (p.Glu812Lys)
c.1831G>A (p.Glu611Lys)
c.2341G>A (p.Glu781Lys)
c.2002G>A (p.Glu668Lys)
c.2350G>A (p.Glu784Lys)
c.2241+217G>A (n.2241+217G>A)
c.2205+217G>A (n.2205+217G>A)
c.2380G>A (p.Glu794Lys)
c.2133+217G>A (n.2133+217G>A)
c.1680-5986G>A (n.1680-5986G>A)
c.2476G>A (p.Glu826Lys)
c.2542G>A (p.Glu848Lys)
c.2539G>A (p.Glu847Lys)
c.2512G>A (p.Glu838Lys)
c.2458G>A (p.Glu820Lys)
c.2431G>A (p.Glu811Lys)
c.2416G>A (p.Glu806Lys)
c.2023G>A (p.Glu675Lys)
c.2485G>A (p.Glu829Lys)
c.2422G>A (p.Glu808Lys)
c.2419G>A (p.Glu807Lys)
c.2377G>A (p.Glu793Lys)
c.1450G>A (p.Glu484Lys)
20g.63406830C>ACA409637098KCNQ2c.2487G>T (p.Lys829Asn)
c.2433G>T (p.Lys811Asn)
c.1830G>T (p.Lys610Asn)
c.2340G>T (p.Lys780Asn)
c.2001G>T (p.Lys667Asn)
c.2349G>T (p.Lys783Asn)
c.2241+216G>T (n.2241+216G>T)
c.2205+216G>T (n.2205+216G>T)
c.2379G>T (p.Lys793Asn)
c.2133+216G>T (n.2133+216G>T)
c.1680-5987G>T (n.1680-5987G>T)
c.2475G>T (p.Lys825Asn)
c.2541G>T (p.Lys847Asn)
c.2538G>T (p.Lys846Asn)
c.2511G>T (p.Lys837Asn)
c.2457G>T (p.Lys819Asn)
c.2430G>T (p.Lys810Asn)
c.2415G>T (p.Lys805Asn)
c.2022G>T (p.Lys674Asn)
c.2484G>T (p.Lys828Asn)
c.2421G>T (p.Lys807Asn)
c.2418G>T (p.Lys806Asn)
c.2376G>T (p.Lys792Asn)
c.1449G>T (p.Lys483Asn)
20g.63406830C>GCA409637099KCNQ2c.2487G>C (p.Lys829Asn)
c.2433G>C (p.Lys811Asn)
c.1830G>C (p.Lys610Asn)
c.2340G>C (p.Lys780Asn)
c.2001G>C (p.Lys667Asn)
c.2349G>C (p.Lys783Asn)
c.2241+216G>C (n.2241+216G>C)
c.2205+216G>C (n.2205+216G>C)
c.2379G>C (p.Lys793Asn)
c.2133+216G>C (n.2133+216G>C)
c.1680-5987G>C (n.1680-5987G>C)
c.2475G>C (p.Lys825Asn)
c.2541G>C (p.Lys847Asn)
c.2538G>C (p.Lys846Asn)
c.2511G>C (p.Lys837Asn)
c.2457G>C (p.Lys819Asn)
c.2430G>C (p.Lys810Asn)
c.2415G>C (p.Lys805Asn)
c.2022G>C (p.Lys674Asn)
c.2484G>C (p.Lys828Asn)
c.2421G>C (p.Lys807Asn)
c.2418G>C (p.Lys806Asn)
c.2376G>C (p.Lys792Asn)
c.1449G>C (p.Lys483Asn)
20g.63406830C>TCA511339379KCNQ2c.2487G>A (p.Lys829=)
c.2433G>A (p.Lys811=)
c.1830G>A (p.Lys610=)
c.2340G>A (p.Lys780=)
c.2001G>A (p.Lys667=)
c.2349G>A (p.Lys783=)
c.2241+216G>A (n.2241+216G>A)
c.2205+216G>A (n.2205+216G>A)
c.2379G>A (p.Lys793=)
c.2133+216G>A (n.2133+216G>A)
c.1680-5987G>A (n.1680-5987G>A)
c.2475G>A (p.Lys825=)
c.2541G>A (p.Lys847=)
c.2538G>A (p.Lys846=)
c.2511G>A (p.Lys837=)
c.2457G>A (p.Lys819=)
c.2430G>A (p.Lys810=)
c.2415G>A (p.Lys805=)
c.2022G>A (p.Lys674=)
c.2484G>A (p.Lys828=)
c.2421G>A (p.Lys807=)
c.2418G>A (p.Lys806=)
c.2376G>A (p.Lys792=)
c.1449G>A (p.Lys483=)
 ClinVar gnomAD v4
20g.63406831T>ACA409637101KCNQ2c.2486A>T (p.Lys829Met)
c.2432A>T (p.Lys811Met)
c.1829A>T (p.Lys610Met)
c.2339A>T (p.Lys780Met)
c.2000A>T (p.Lys667Met)
c.2348A>T (p.Lys783Met)
c.2241+215A>T (n.2241+215A>T)
c.2205+215A>T (n.2205+215A>T)
c.2378A>T (p.Lys793Met)
c.2133+215A>T (n.2133+215A>T)
c.1680-5988A>T (n.1680-5988A>T)
c.2474A>T (p.Lys825Met)
c.2540A>T (p.Lys847Met)
c.2537A>T (p.Lys846Met)
c.2510A>T (p.Lys837Met)
c.2456A>T (p.Lys819Met)
c.2429A>T (p.Lys810Met)
c.2414A>T (p.Lys805Met)
c.2021A>T (p.Lys674Met)
c.2483A>T (p.Lys828Met)
c.2420A>T (p.Lys807Met)
c.2417A>T (p.Lys806Met)
c.2375A>T (p.Lys792Met)
c.1448A>T (p.Lys483Met)
20g.63406831T>CCA409637103KCNQ2c.2486A>G (p.Lys829Arg)
c.2432A>G (p.Lys811Arg)
c.1829A>G (p.Lys610Arg)
c.2339A>G (p.Lys780Arg)
c.2000A>G (p.Lys667Arg)
c.2348A>G (p.Lys783Arg)
c.2241+215A>G (n.2241+215A>G)
c.2205+215A>G (n.2205+215A>G)
c.2378A>G (p.Lys793Arg)
c.2133+215A>G (n.2133+215A>G)
c.1680-5988A>G (n.1680-5988A>G)
c.2474A>G (p.Lys825Arg)
c.2540A>G (p.Lys847Arg)
c.2537A>G (p.Lys846Arg)
c.2510A>G (p.Lys837Arg)
c.2456A>G (p.Lys819Arg)
c.2429A>G (p.Lys810Arg)
c.2414A>G (p.Lys805Arg)
c.2021A>G (p.Lys674Arg)
c.2483A>G (p.Lys828Arg)
c.2420A>G (p.Lys807Arg)
c.2417A>G (p.Lys806Arg)
c.2375A>G (p.Lys792Arg)
c.1448A>G (p.Lys483Arg)
 dbSNP gnomAD v3 gnomAD v4
20g.63406831T>GCA409637105KCNQ2c.2486A>C (p.Lys829Thr)
c.2432A>C (p.Lys811Thr)
c.1829A>C (p.Lys610Thr)
c.2339A>C (p.Lys780Thr)
c.2000A>C (p.Lys667Thr)
c.2348A>C (p.Lys783Thr)
c.2241+215A>C (n.2241+215A>C)
c.2205+215A>C (n.2205+215A>C)
c.2378A>C (p.Lys793Thr)
c.2133+215A>C (n.2133+215A>C)
c.1680-5988A>C (n.1680-5988A>C)
c.2474A>C (p.Lys825Thr)
c.2540A>C (p.Lys847Thr)
c.2537A>C (p.Lys846Thr)
c.2510A>C (p.Lys837Thr)
c.2456A>C (p.Lys819Thr)
c.2429A>C (p.Lys810Thr)
c.2414A>C (p.Lys805Thr)
c.2021A>C (p.Lys674Thr)
c.2483A>C (p.Lys828Thr)
c.2420A>C (p.Lys807Thr)
c.2417A>C (p.Lys806Thr)
c.2375A>C (p.Lys792Thr)
c.1448A>C (p.Lys483Thr)
20g.63406831T=CA2374774262KCNQ2c.2486A= (p.Lys829=)
c.2432A= (p.Lys811=)
c.1829A= (p.Lys610=)
c.2339A= (p.Lys780=)
c.2000A= (p.Lys667=)
c.2348A= (p.Lys783=)
c.2241+215A= (n.2241+215A=)
c.2205+215A= (n.2205+215A=)
c.2378A= (p.Lys793=)
c.2133+215A= (n.2133+215A=)
c.1680-5988A= (n.1680-5988A=)
c.2474A= (p.Lys825=)
c.2540A= (p.Lys847=)
c.2537A= (p.Lys846=)
c.2510A= (p.Lys837=)
c.2456A= (p.Lys819=)
c.2429A= (p.Lys810=)
c.2414A= (p.Lys805=)
c.2021A= (p.Lys674=)
c.2483A= (p.Lys828=)
c.2420A= (p.Lys807=)
c.2417A= (p.Lys806=)
c.2375A= (p.Lys792=)
c.1448A= (p.Lys483=)
20g.63406832T>ACA409637111KCNQ2c.2485A>T (p.Lys829Ter)
c.2431A>T (p.Lys811Ter)
c.1828A>T (p.Lys610Ter)
c.2338A>T (p.Lys780Ter)
c.1999A>T (p.Lys667Ter)
c.2347A>T (p.Lys783Ter)
c.2241+214A>T (n.2241+214A>T)
c.2205+214A>T (n.2205+214A>T)
c.2377A>T (p.Lys793Ter)
c.2133+214A>T (n.2133+214A>T)
c.1680-5989A>T (n.1680-5989A>T)
c.2473A>T (p.Lys825Ter)
c.2539A>T (p.Lys847Ter)
c.2536A>T (p.Lys846Ter)
c.2509A>T (p.Lys837Ter)
c.2455A>T (p.Lys819Ter)
c.2428A>T (p.Lys810Ter)
c.2413A>T (p.Lys805Ter)
c.2020A>T (p.Lys674Ter)
c.2482A>T (p.Lys828Ter)
c.2419A>T (p.Lys807Ter)
c.2416A>T (p.Lys806Ter)
c.2374A>T (p.Lys792Ter)
c.1447A>T (p.Lys483Ter)
20g.63406832T>CCA409637109KCNQ2c.2485A>G (p.Lys829Glu)
c.2431A>G (p.Lys811Glu)
c.1828A>G (p.Lys610Glu)
c.2338A>G (p.Lys780Glu)
c.1999A>G (p.Lys667Glu)
c.2347A>G (p.Lys783Glu)
c.2241+214A>G (n.2241+214A>G)
c.2205+214A>G (n.2205+214A>G)
c.2377A>G (p.Lys793Glu)
c.2133+214A>G (n.2133+214A>G)
c.1680-5989A>G (n.1680-5989A>G)
c.2473A>G (p.Lys825Glu)
c.2539A>G (p.Lys847Glu)
c.2536A>G (p.Lys846Glu)
c.2509A>G (p.Lys837Glu)
c.2455A>G (p.Lys819Glu)
c.2428A>G (p.Lys810Glu)
c.2413A>G (p.Lys805Glu)
c.2020A>G (p.Lys674Glu)
c.2482A>G (p.Lys828Glu)
c.2419A>G (p.Lys807Glu)
c.2416A>G (p.Lys806Glu)
c.2374A>G (p.Lys792Glu)
c.1447A>G (p.Lys483Glu)
20g.63406832T>GCA409637107KCNQ2c.2485A>C (p.Lys829Gln)
c.2431A>C (p.Lys811Gln)
c.1828A>C (p.Lys610Gln)
c.2338A>C (p.Lys780Gln)
c.1999A>C (p.Lys667Gln)
c.2347A>C (p.Lys783Gln)
c.2241+214A>C (n.2241+214A>C)
c.2205+214A>C (n.2205+214A>C)
c.2377A>C (p.Lys793Gln)
c.2133+214A>C (n.2133+214A>C)
c.1680-5989A>C (n.1680-5989A>C)
c.2473A>C (p.Lys825Gln)
c.2539A>C (p.Lys847Gln)
c.2536A>C (p.Lys846Gln)
c.2509A>C (p.Lys837Gln)
c.2455A>C (p.Lys819Gln)
c.2428A>C (p.Lys810Gln)
c.2413A>C (p.Lys805Gln)
c.2020A>C (p.Lys674Gln)
c.2482A>C (p.Lys828Gln)
c.2419A>C (p.Lys807Gln)
c.2416A>C (p.Lys806Gln)
c.2374A>C (p.Lys792Gln)
c.1447A>C (p.Lys483Gln)
20g.63406833G>ACA511339386KCNQ2c.2484C>T (p.Ser828=)
c.2430C>T (p.Ser810=)
c.1827C>T (p.Ser609=)
c.2337C>T (p.Ser779=)
c.1998C>T (p.Ser666=)
c.2346C>T (p.Ser782=)
c.2241+213C>T (n.2241+213C>T)
c.2205+213C>T (n.2205+213C>T)
c.2376C>T (p.Ser792=)
c.2133+213C>T (n.2133+213C>T)
c.1680-5990C>T (n.1680-5990C>T)
c.2472C>T (p.Ser824=)
c.2538C>T (p.Ser846=)
c.2535C>T (p.Ser845=)
c.2508C>T (p.Ser836=)
c.2454C>T (p.Ser818=)
c.2427C>T (p.Ser809=)
c.2412C>T (p.Ser804=)
c.2019C>T (p.Ser673=)
c.2481C>T (p.Ser827=)
c.2418C>T (p.Ser806=)
c.2415C>T (p.Ser805=)
c.2373C>T (p.Ser791=)
c.1446C>T (p.Ser482=)
 dbSNP
20g.63406833G>CCA511339387KCNQ2c.2484C>G (p.Ser828=)
c.2430C>G (p.Ser810=)
c.1827C>G (p.Ser609=)
c.2337C>G (p.Ser779=)
c.1998C>G (p.Ser666=)
c.2346C>G (p.Ser782=)
c.2241+213C>G (n.2241+213C>G)
c.2205+213C>G (n.2205+213C>G)
c.2376C>G (p.Ser792=)
c.2133+213C>G (n.2133+213C>G)
c.1680-5990C>G (n.1680-5990C>G)
c.2472C>G (p.Ser824=)
c.2538C>G (p.Ser846=)
c.2535C>G (p.Ser845=)
c.2508C>G (p.Ser836=)
c.2454C>G (p.Ser818=)
c.2427C>G (p.Ser809=)
c.2412C>G (p.Ser804=)
c.2019C>G (p.Ser673=)
c.2481C>G (p.Ser827=)
c.2418C>G (p.Ser806=)
c.2415C>G (p.Ser805=)
c.2373C>G (p.Ser791=)
c.1446C>G (p.Ser482=)
 gnomAD v4
20g.63406833G=CA2374774263KCNQ2c.2484C= (p.Ser828=)
c.2430C= (p.Ser810=)
c.1827C= (p.Ser609=)
c.2337C= (p.Ser779=)
c.1998C= (p.Ser666=)
c.2346C= (p.Ser782=)
c.2241+213C= (n.2241+213C=)
c.2205+213C= (n.2205+213C=)
c.2376C= (p.Ser792=)
c.2133+213C= (n.2133+213C=)
c.1680-5990C= (n.1680-5990C=)
c.2472C= (p.Ser824=)
c.2538C= (p.Ser846=)
c.2535C= (p.Ser845=)
c.2508C= (p.Ser836=)
c.2454C= (p.Ser818=)
c.2427C= (p.Ser809=)
c.2412C= (p.Ser804=)
c.2019C= (p.Ser673=)
c.2481C= (p.Ser827=)
c.2418C= (p.Ser806=)
c.2415C= (p.Ser805=)
c.2373C= (p.Ser791=)
c.1446C= (p.Ser482=)
20g.63406833G>TCA511339390KCNQ2c.2484C>A (p.Ser828=)
c.2430C>A (p.Ser810=)
c.1827C>A (p.Ser609=)
c.2337C>A (p.Ser779=)
c.1998C>A (p.Ser666=)
c.2346C>A (p.Ser782=)
c.2241+213C>A (n.2241+213C>A)
c.2205+213C>A (n.2205+213C>A)
c.2376C>A (p.Ser792=)
c.2133+213C>A (n.2133+213C>A)
c.1680-5990C>A (n.1680-5990C>A)
c.2472C>A (p.Ser824=)
c.2538C>A (p.Ser846=)
c.2535C>A (p.Ser845=)
c.2508C>A (p.Ser836=)
c.2454C>A (p.Ser818=)
c.2427C>A (p.Ser809=)
c.2412C>A (p.Ser804=)
c.2019C>A (p.Ser673=)
c.2481C>A (p.Ser827=)
c.2418C>A (p.Ser806=)
c.2415C>A (p.Ser805=)
c.2373C>A (p.Ser791=)
c.1446C>A (p.Ser482=)
20g.63406834G>ACA409637113KCNQ2c.2483C>T (p.Ser828Phe)
c.2429C>T (p.Ser810Phe)
c.1826C>T (p.Ser609Phe)
c.2336C>T (p.Ser779Phe)
c.1997C>T (p.Ser666Phe)
c.2345C>T (p.Ser782Phe)
c.2241+212C>T (n.2241+212C>T)
c.2205+212C>T (n.2205+212C>T)
c.2375C>T (p.Ser792Phe)
c.2133+212C>T (n.2133+212C>T)
c.1680-5991C>T (n.1680-5991C>T)
c.2471C>T (p.Ser824Phe)
c.2537C>T (p.Ser846Phe)
c.2534C>T (p.Ser845Phe)
c.2507C>T (p.Ser836Phe)
c.2453C>T (p.Ser818Phe)
c.2426C>T (p.Ser809Phe)
c.2411C>T (p.Ser804Phe)
c.2018C>T (p.Ser673Phe)
c.2480C>T (p.Ser827Phe)
c.2417C>T (p.Ser806Phe)
c.2414C>T (p.Ser805Phe)
c.2372C>T (p.Ser791Phe)
c.1445C>T (p.Ser482Phe)
20g.63406834G>CCA409637117KCNQ2c.2483C>G (p.Ser828Cys)
c.2429C>G (p.Ser810Cys)
c.1826C>G (p.Ser609Cys)
c.2336C>G (p.Ser779Cys)
c.1997C>G (p.Ser666Cys)
c.2345C>G (p.Ser782Cys)
c.2241+212C>G (n.2241+212C>G)
c.2205+212C>G (n.2205+212C>G)
c.2375C>G (p.Ser792Cys)
c.2133+212C>G (n.2133+212C>G)
c.1680-5991C>G (n.1680-5991C>G)
c.2471C>G (p.Ser824Cys)
c.2537C>G (p.Ser846Cys)
c.2534C>G (p.Ser845Cys)
c.2507C>G (p.Ser836Cys)
c.2453C>G (p.Ser818Cys)
c.2426C>G (p.Ser809Cys)
c.2411C>G (p.Ser804Cys)
c.2018C>G (p.Ser673Cys)
c.2480C>G (p.Ser827Cys)
c.2417C>G (p.Ser806Cys)
c.2414C>G (p.Ser805Cys)
c.2372C>G (p.Ser791Cys)
c.1445C>G (p.Ser482Cys)
20g.63406834G>TCA409637115KCNQ2c.2483C>A (p.Ser828Tyr)
c.2429C>A (p.Ser810Tyr)
c.1826C>A (p.Ser609Tyr)
c.2336C>A (p.Ser779Tyr)
c.1997C>A (p.Ser666Tyr)
c.2345C>A (p.Ser782Tyr)
c.2241+212C>A (n.2241+212C>A)
c.2205+212C>A (n.2205+212C>A)
c.2375C>A (p.Ser792Tyr)
c.2133+212C>A (n.2133+212C>A)
c.1680-5991C>A (n.1680-5991C>A)
c.2471C>A (p.Ser824Tyr)
c.2537C>A (p.Ser846Tyr)
c.2534C>A (p.Ser845Tyr)
c.2507C>A (p.Ser836Tyr)
c.2453C>A (p.Ser818Tyr)
c.2426C>A (p.Ser809Tyr)
c.2411C>A (p.Ser804Tyr)
c.2018C>A (p.Ser673Tyr)
c.2480C>A (p.Ser827Tyr)
c.2417C>A (p.Ser806Tyr)
c.2414C>A (p.Ser805Tyr)
c.2372C>A (p.Ser791Tyr)
c.1445C>A (p.Ser482Tyr)
 gnomAD v4
20g.63406835A=CA2374774264KCNQ2c.2482T= (p.Ser828=)
c.2428T= (p.Ser810=)
c.1825T= (p.Ser609=)
c.2335T= (p.Ser779=)
c.1996T= (p.Ser666=)
c.2344T= (p.Ser782=)
c.2241+211T= (n.2241+211T=)
c.2205+211T= (n.2205+211T=)
c.2374T= (p.Ser792=)
c.2133+211T= (n.2133+211T=)
c.1680-5992T= (n.1680-5992T=)
c.2470T= (p.Ser824=)
c.2536T= (p.Ser846=)
c.2533T= (p.Ser845=)
c.2506T= (p.Ser836=)
c.2452T= (p.Ser818=)
c.2425T= (p.Ser809=)
c.2410T= (p.Ser804=)
c.2017T= (p.Ser673=)
c.2479T= (p.Ser827=)
c.2416T= (p.Ser806=)
c.2413T= (p.Ser805=)
c.2371T= (p.Ser791=)
c.1444T= (p.Ser482=)
20g.63406835A>CCA409637119KCNQ2c.2482T>G (p.Ser828Ala)
c.2428T>G (p.Ser810Ala)
c.1825T>G (p.Ser609Ala)
c.2335T>G (p.Ser779Ala)
c.1996T>G (p.Ser666Ala)
c.2344T>G (p.Ser782Ala)
c.2241+211T>G (n.2241+211T>G)
c.2205+211T>G (n.2205+211T>G)
c.2374T>G (p.Ser792Ala)
c.2133+211T>G (n.2133+211T>G)
c.1680-5992T>G (n.1680-5992T>G)
c.2470T>G (p.Ser824Ala)
c.2536T>G (p.Ser846Ala)
c.2533T>G (p.Ser845Ala)
c.2506T>G (p.Ser836Ala)
c.2452T>G (p.Ser818Ala)
c.2425T>G (p.Ser809Ala)
c.2410T>G (p.Ser804Ala)
c.2017T>G (p.Ser673Ala)
c.2479T>G (p.Ser827Ala)
c.2416T>G (p.Ser806Ala)
c.2413T>G (p.Ser805Ala)
c.2371T>G (p.Ser791Ala)
c.1444T>G (p.Ser482Ala)
20g.63406835A>GCA409637123KCNQ2c.2482T>C (p.Ser828Pro)
c.2428T>C (p.Ser810Pro)
c.1825T>C (p.Ser609Pro)
c.2335T>C (p.Ser779Pro)
c.1996T>C (p.Ser666Pro)
c.2344T>C (p.Ser782Pro)
c.2241+211T>C (n.2241+211T>C)
c.2205+211T>C (n.2205+211T>C)
c.2374T>C (p.Ser792Pro)
c.2133+211T>C (n.2133+211T>C)
c.1680-5992T>C (n.1680-5992T>C)
c.2470T>C (p.Ser824Pro)
c.2536T>C (p.Ser846Pro)
c.2533T>C (p.Ser845Pro)
c.2506T>C (p.Ser836Pro)
c.2452T>C (p.Ser818Pro)
c.2425T>C (p.Ser809Pro)
c.2410T>C (p.Ser804Pro)
c.2017T>C (p.Ser673Pro)
c.2479T>C (p.Ser827Pro)
c.2416T>C (p.Ser806Pro)
c.2413T>C (p.Ser805Pro)
c.2371T>C (p.Ser791Pro)
c.1444T>C (p.Ser482Pro)
20g.63406835A>TCA409637125KCNQ2c.2482T>A (p.Ser828Thr)
c.2428T>A (p.Ser810Thr)
c.1825T>A (p.Ser609Thr)
c.2335T>A (p.Ser779Thr)
c.1996T>A (p.Ser666Thr)
c.2344T>A (p.Ser782Thr)
c.2241+211T>A (n.2241+211T>A)
c.2205+211T>A (n.2205+211T>A)
c.2374T>A (p.Ser792Thr)
c.2133+211T>A (n.2133+211T>A)
c.1680-5992T>A (n.1680-5992T>A)
c.2470T>A (p.Ser824Thr)
c.2536T>A (p.Ser846Thr)
c.2533T>A (p.Ser845Thr)
c.2506T>A (p.Ser836Thr)
c.2452T>A (p.Ser818Thr)
c.2425T>A (p.Ser809Thr)
c.2410T>A (p.Ser804Thr)
c.2017T>A (p.Ser673Thr)
c.2479T>A (p.Ser827Thr)
c.2416T>A (p.Ser806Thr)
c.2413T>A (p.Ser805Thr)
c.2371T>A (p.Ser791Thr)
c.1444T>A (p.Ser482Thr)
 dbSNP gnomAD v2 gnomAD v4
20g.63406836C>ACA409637126KCNQ2c.2481G>T (p.Gln827His)
c.2427G>T (p.Gln809His)
c.1824G>T (p.Gln608His)
c.2334G>T (p.Gln778His)
c.1995G>T (p.Gln665His)
c.2343G>T (p.Gln781His)
c.2241+210G>T (n.2241+210G>T)
c.2205+210G>T (n.2205+210G>T)
c.2373G>T (p.Gln791His)
c.2133+210G>T (n.2133+210G>T)
c.1680-5993G>T (n.1680-5993G>T)
c.2469G>T (p.Gln823His)
c.2535G>T (p.Gln845His)
c.2532G>T (p.Gln844His)
c.2505G>T (p.Gln835His)
c.2451G>T (p.Gln817His)
c.2424G>T (p.Gln808His)
c.2409G>T (p.Gln803His)
c.2016G>T (p.Gln672His)
c.2478G>T (p.Gln826His)
c.2415G>T (p.Gln805His)
c.2412G>T (p.Gln804His)
c.2370G>T (p.Gln790His)
c.1443G>T (p.Gln481His)
20g.63406836C=CA2374774265KCNQ2c.2481G= (p.Gln827=)
c.2427G= (p.Gln809=)
c.1824G= (p.Gln608=)
c.2334G= (p.Gln778=)
c.1995G= (p.Gln665=)
c.2343G= (p.Gln781=)
c.2241+210G= (n.2241+210G=)
c.2205+210G= (n.2205+210G=)
c.2373G= (p.Gln791=)
c.2133+210G= (n.2133+210G=)
c.1680-5993G= (n.1680-5993G=)
c.2469G= (p.Gln823=)
c.2535G= (p.Gln845=)
c.2532G= (p.Gln844=)
c.2505G= (p.Gln835=)
c.2451G= (p.Gln817=)
c.2424G= (p.Gln808=)
c.2409G= (p.Gln803=)
c.2016G= (p.Gln672=)
c.2478G= (p.Gln826=)
c.2415G= (p.Gln805=)
c.2412G= (p.Gln804=)
c.2370G= (p.Gln790=)
c.1443G= (p.Gln481=)
20g.63406836C>GCA409637128KCNQ2c.2481G>C (p.Gln827His)
c.2427G>C (p.Gln809His)
c.1824G>C (p.Gln608His)
c.2334G>C (p.Gln778His)
c.1995G>C (p.Gln665His)
c.2343G>C (p.Gln781His)
c.2241+210G>C (n.2241+210G>C)
c.2205+210G>C (n.2205+210G>C)
c.2373G>C (p.Gln791His)
c.2133+210G>C (n.2133+210G>C)
c.1680-5993G>C (n.1680-5993G>C)
c.2469G>C (p.Gln823His)
c.2535G>C (p.Gln845His)
c.2532G>C (p.Gln844His)
c.2505G>C (p.Gln835His)
c.2451G>C (p.Gln817His)
c.2424G>C (p.Gln808His)
c.2409G>C (p.Gln803His)
c.2016G>C (p.Gln672His)
c.2478G>C (p.Gln826His)
c.2415G>C (p.Gln805His)
c.2412G>C (p.Gln804His)
c.2370G>C (p.Gln790His)
c.1443G>C (p.Gln481His)
20g.63406836C>TCA511339394KCNQ2c.2481G>A (p.Gln827=)
c.2427G>A (p.Gln809=)
c.1824G>A (p.Gln608=)
c.2334G>A (p.Gln778=)
c.1995G>A (p.Gln665=)
c.2343G>A (p.Gln781=)
c.2241+210G>A (n.2241+210G>A)
c.2205+210G>A (n.2205+210G>A)
c.2373G>A (p.Gln791=)
c.2133+210G>A (n.2133+210G>A)
c.1680-5993G>A (n.1680-5993G>A)
c.2469G>A (p.Gln823=)
c.2535G>A (p.Gln845=)
c.2532G>A (p.Gln844=)
c.2505G>A (p.Gln835=)
c.2451G>A (p.Gln817=)
c.2424G>A (p.Gln808=)
c.2409G>A (p.Gln803=)
c.2016G>A (p.Gln672=)
c.2478G>A (p.Gln826=)
c.2415G>A (p.Gln805=)
c.2412G>A (p.Gln804=)
c.2370G>A (p.Gln790=)
c.1443G>A (p.Gln481=)
 dbSNP gnomAD v4
20g.63406837T>ACA9958077KCNQ2c.2480A>T (p.Gln827Leu)
c.2426A>T (p.Gln809Leu)
c.1823A>T (p.Gln608Leu)
c.2333A>T (p.Gln778Leu)
c.1994A>T (p.Gln665Leu)
c.2342A>T (p.Gln781Leu)
c.2241+209A>T (n.2241+209A>T)
c.2205+209A>T (n.2205+209A>T)
c.2372A>T (p.Gln791Leu)
c.2133+209A>T (n.2133+209A>T)
c.1680-5994A>T (n.1680-5994A>T)
c.2468A>T (p.Gln823Leu)
c.2534A>T (p.Gln845Leu)
c.2531A>T (p.Gln844Leu)
c.2504A>T (p.Gln835Leu)
c.2450A>T (p.Gln817Leu)
c.2423A>T (p.Gln808Leu)
c.2408A>T (p.Gln803Leu)
c.2015A>T (p.Gln672Leu)
c.2477A>T (p.Gln826Leu)
c.2414A>T (p.Gln805Leu)
c.2411A>T (p.Gln804Leu)
c.2369A>T (p.Gln790Leu)
c.1442A>T (p.Gln481Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406837T>CCA409637131KCNQ2c.2480A>G (p.Gln827Arg)
c.2426A>G (p.Gln809Arg)
c.1823A>G (p.Gln608Arg)
c.2333A>G (p.Gln778Arg)
c.1994A>G (p.Gln665Arg)
c.2342A>G (p.Gln781Arg)
c.2241+209A>G (n.2241+209A>G)
c.2205+209A>G (n.2205+209A>G)
c.2372A>G (p.Gln791Arg)
c.2133+209A>G (n.2133+209A>G)
c.1680-5994A>G (n.1680-5994A>G)
c.2468A>G (p.Gln823Arg)
c.2534A>G (p.Gln845Arg)
c.2531A>G (p.Gln844Arg)
c.2504A>G (p.Gln835Arg)
c.2450A>G (p.Gln817Arg)
c.2423A>G (p.Gln808Arg)
c.2408A>G (p.Gln803Arg)
c.2015A>G (p.Gln672Arg)
c.2477A>G (p.Gln826Arg)
c.2414A>G (p.Gln805Arg)
c.2411A>G (p.Gln804Arg)
c.2369A>G (p.Gln790Arg)
c.1442A>G (p.Gln481Arg)
20g.63406837T>GCA409637132KCNQ2c.2480A>C (p.Gln827Pro)
c.2426A>C (p.Gln809Pro)
c.1823A>C (p.Gln608Pro)
c.2333A>C (p.Gln778Pro)
c.1994A>C (p.Gln665Pro)
c.2342A>C (p.Gln781Pro)
c.2241+209A>C (n.2241+209A>C)
c.2205+209A>C (n.2205+209A>C)
c.2372A>C (p.Gln791Pro)
c.2133+209A>C (n.2133+209A>C)
c.1680-5994A>C (n.1680-5994A>C)
c.2468A>C (p.Gln823Pro)
c.2534A>C (p.Gln845Pro)
c.2531A>C (p.Gln844Pro)
c.2504A>C (p.Gln835Pro)
c.2450A>C (p.Gln817Pro)
c.2423A>C (p.Gln808Pro)
c.2408A>C (p.Gln803Pro)
c.2015A>C (p.Gln672Pro)
c.2477A>C (p.Gln826Pro)
c.2414A>C (p.Gln805Pro)
c.2411A>C (p.Gln804Pro)
c.2369A>C (p.Gln790Pro)
c.1442A>C (p.Gln481Pro)
20g.63406837T=CA2374774266KCNQ2c.2480A= (p.Gln827=)
c.2426A= (p.Gln809=)
c.1823A= (p.Gln608=)
c.2333A= (p.Gln778=)
c.1994A= (p.Gln665=)
c.2342A= (p.Gln781=)
c.2241+209A= (n.2241+209A=)
c.2205+209A= (n.2205+209A=)
c.2372A= (p.Gln791=)
c.2133+209A= (n.2133+209A=)
c.1680-5994A= (n.1680-5994A=)
c.2468A= (p.Gln823=)
c.2534A= (p.Gln845=)
c.2531A= (p.Gln844=)
c.2504A= (p.Gln835=)
c.2450A= (p.Gln817=)
c.2423A= (p.Gln808=)
c.2408A= (p.Gln803=)
c.2015A= (p.Gln672=)
c.2477A= (p.Gln826=)
c.2414A= (p.Gln805=)
c.2411A= (p.Gln804=)
c.2369A= (p.Gln790=)
c.1442A= (p.Gln481=)
20g.63406837_63406838delinsTGCA2374774267KCNQ2c.2479_2480delinsCA (p.Gln827=)
c.2425_2426delinsCA (p.Gln809=)
c.1822_1823delinsCA (p.Gln608=)
c.2332_2333delinsCA (p.Gln778=)
c.1993_1994delinsCA (p.Gln665=)
c.2341_2342delinsCA (p.Gln781=)
c.2241+208_2241+209delinsCA (n.2241+208_2241+209delinsCA)
c.2205+208_2205+209delinsCA (n.2205+208_2205+209delinsCA)
c.2371_2372delinsCA (p.Gln791=)
c.2133+208_2133+209delinsCA (n.2133+208_2133+209delinsCA)
c.1680-5995_1680-5994delinsCA (n.1680-5995_1680-5994delinsCA)
c.2467_2468delinsCA (p.Gln823=)
c.2533_2534delinsCA (p.Gln845=)
c.2530_2531delinsCA (p.Gln844=)
c.2503_2504delinsCA (p.Gln835=)
c.2449_2450delinsCA (p.Gln817=)
c.2422_2423delinsCA (p.Gln808=)
c.2407_2408delinsCA (p.Gln803=)
c.2014_2015delinsCA (p.Gln672=)
c.2476_2477delinsCA (p.Gln826=)
c.2413_2414delinsCA (p.Gln805=)
c.2410_2411delinsCA (p.Gln804=)
c.2368_2369delinsCA (p.Gln790=)
c.1441_1442delinsCA (p.Gln481=)
20g.63406838G>ACA409637135KCNQ2c.2479C>T (p.Gln827Ter)
c.2425C>T (p.Gln809Ter)
c.1822C>T (p.Gln608Ter)
c.2332C>T (p.Gln778Ter)
c.1993C>T (p.Gln665Ter)
c.2341C>T (p.Gln781Ter)
c.2241+208C>T (n.2241+208C>T)
c.2205+208C>T (n.2205+208C>T)
c.2371C>T (p.Gln791Ter)
c.2133+208C>T (n.2133+208C>T)
c.1680-5995C>T (n.1680-5995C>T)
c.2467C>T (p.Gln823Ter)
c.2533C>T (p.Gln845Ter)
c.2530C>T (p.Gln844Ter)
c.2503C>T (p.Gln835Ter)
c.2449C>T (p.Gln817Ter)
c.2422C>T (p.Gln808Ter)
c.2407C>T (p.Gln803Ter)
c.2014C>T (p.Gln672Ter)
c.2476C>T (p.Gln826Ter)
c.2413C>T (p.Gln805Ter)
c.2410C>T (p.Gln804Ter)
c.2368C>T (p.Gln790Ter)
c.1441C>T (p.Gln481Ter)
 ClinVar
20g.63406838G>CCA409637137KCNQ2c.2479C>G (p.Gln827Glu)
c.2425C>G (p.Gln809Glu)
c.1822C>G (p.Gln608Glu)
c.2332C>G (p.Gln778Glu)
c.1993C>G (p.Gln665Glu)
c.2341C>G (p.Gln781Glu)
c.2241+208C>G (n.2241+208C>G)
c.2205+208C>G (n.2205+208C>G)
c.2371C>G (p.Gln791Glu)
c.2133+208C>G (n.2133+208C>G)
c.1680-5995C>G (n.1680-5995C>G)
c.2467C>G (p.Gln823Glu)
c.2533C>G (p.Gln845Glu)
c.2530C>G (p.Gln844Glu)
c.2503C>G (p.Gln835Glu)
c.2449C>G (p.Gln817Glu)
c.2422C>G (p.Gln808Glu)
c.2407C>G (p.Gln803Glu)
c.2014C>G (p.Gln672Glu)
c.2476C>G (p.Gln826Glu)
c.2413C>G (p.Gln805Glu)
c.2410C>G (p.Gln804Glu)
c.2368C>G (p.Gln790Glu)
c.1441C>G (p.Gln481Glu)
20g.63406838G>TCA409637139KCNQ2c.2479C>A (p.Gln827Lys)
c.2425C>A (p.Gln809Lys)
c.1822C>A (p.Gln608Lys)
c.2332C>A (p.Gln778Lys)
c.1993C>A (p.Gln665Lys)
c.2341C>A (p.Gln781Lys)
c.2241+208C>A (n.2241+208C>A)
c.2205+208C>A (n.2205+208C>A)
c.2371C>A (p.Gln791Lys)
c.2133+208C>A (n.2133+208C>A)
c.1680-5995C>A (n.1680-5995C>A)
c.2467C>A (p.Gln823Lys)
c.2533C>A (p.Gln845Lys)
c.2530C>A (p.Gln844Lys)
c.2503C>A (p.Gln835Lys)
c.2449C>A (p.Gln817Lys)
c.2422C>A (p.Gln808Lys)
c.2407C>A (p.Gln803Lys)
c.2014C>A (p.Gln672Lys)
c.2476C>A (p.Gln826Lys)
c.2413C>A (p.Gln805Lys)
c.2410C>A (p.Gln804Lys)
c.2368C>A (p.Gln790Lys)
c.1441C>A (p.Gln481Lys)
20g.63406840delCA16043700KCNQ2c.2479del (p.Gln827SerfsTer?)
c.2425del (p.Gln809SerfsTer?)
c.1822del (p.Gln608SerfsTer?)
c.2332del (p.Gln778SerfsTer?)
c.1993del (p.Gln665SerfsTer?)
c.2341del (p.Gln781SerfsTer?)
c.2241+208del (n.2241+208del)
c.2205+208del (n.2205+208del)
c.2371del (p.Gln791SerfsTer?)
c.2133+208del (n.2133+208del)
c.1680-5995del (n.1680-5995del)
c.2467del (p.Gln823SerfsTer?)
c.2533del (p.Gln845SerfsTer?)
c.2530del (p.Gln844SerfsTer?)
c.2503del (p.Gln835SerfsTer?)
c.2449del (p.Gln817SerfsTer?)
c.2422del (p.Gln808SerfsTer?)
c.2407del (p.Gln803SerfsTer?)
c.2014del (p.Gln672SerfsTer?)
c.2476del (p.Gln826SerfsTer?)
c.2413del (p.Gln805SerfsTer?)
c.2410del (p.Gln804SerfsTer?)
c.2368del (p.Gln790SerfsTer?)
c.1441del (p.Gln481SerfsTer?)
 ClinVar dbSNP
20g.63406839_63406840delCA1019288247KCNQ2c.2478_2479del (p.Gln827ValfsTer?)
c.2424_2425del (p.Gln809ValfsTer?)
c.1821_1822del (p.Gln608ValfsTer?)
c.2331_2332del (p.Gln778ValfsTer?)
c.1992_1993del (p.Gln665ValfsTer?)
c.2340_2341del (p.Gln781ValfsTer?)
c.2241+207_2241+208del (n.2241+207_2241+208del)
c.2205+207_2205+208del (n.2205+207_2205+208del)
c.2370_2371del (p.Gln791ValfsTer?)
c.2133+207_2133+208del (n.2133+207_2133+208del)
c.1680-5996_1680-5995del (n.1680-5996_1680-5995del)
c.2466_2467del (p.Gln823ValfsTer?)
c.2532_2533del (p.Gln845ValfsTer?)
c.2529_2530del (p.Gln844ValfsTer?)
c.2502_2503del (p.Gln835ValfsTer?)
c.2448_2449del (p.Gln817ValfsTer?)
c.2421_2422del (p.Gln808ValfsTer?)
c.2406_2407del (p.Gln803ValfsTer?)
c.2013_2014del (p.Gln672ValfsTer?)
c.2475_2476del (p.Gln826ValfsTer?)
c.2412_2413del (p.Gln805ValfsTer?)
c.2409_2410del (p.Gln804ValfsTer?)
c.2367_2368del (p.Gln790ValfsTer?)
c.1440_1441del (p.Gln481ValfsTer?)
 gnomAD v3 gnomAD v4
20g.63406839G>ACA511339398KCNQ2c.2478C>T (p.Ser826=)
c.2424C>T (p.Ser808=)
c.1821C>T (p.Ser607=)
c.2331C>T (p.Ser777=)
c.1992C>T (p.Ser664=)
c.2340C>T (p.Ser780=)
c.2241+207C>T (n.2241+207C>T)
c.2205+207C>T (n.2205+207C>T)
c.2370C>T (p.Ser790=)
c.2133+207C>T (n.2133+207C>T)
c.1680-5996C>T (n.1680-5996C>T)
c.2466C>T (p.Ser822=)
c.2532C>T (p.Ser844=)
c.2529C>T (p.Ser843=)
c.2502C>T (p.Ser834=)
c.2448C>T (p.Ser816=)
c.2421C>T (p.Ser807=)
c.2406C>T (p.Ser802=)
c.2013C>T (p.Ser671=)
c.2475C>T (p.Ser825=)
c.2412C>T (p.Ser804=)
c.2409C>T (p.Ser803=)
c.2367C>T (p.Ser789=)
c.1440C>T (p.Ser480=)
 ClinVar dbSNP
20g.63406839G>CCA511339402KCNQ2c.2478C>G (p.Ser826=)
c.2424C>G (p.Ser808=)
c.1821C>G (p.Ser607=)
c.2331C>G (p.Ser777=)
c.1992C>G (p.Ser664=)
c.2340C>G (p.Ser780=)
c.2241+207C>G (n.2241+207C>G)
c.2205+207C>G (n.2205+207C>G)
c.2370C>G (p.Ser790=)
c.2133+207C>G (n.2133+207C>G)
c.1680-5996C>G (n.1680-5996C>G)
c.2466C>G (p.Ser822=)
c.2532C>G (p.Ser844=)
c.2529C>G (p.Ser843=)
c.2502C>G (p.Ser834=)
c.2448C>G (p.Ser816=)
c.2421C>G (p.Ser807=)
c.2406C>G (p.Ser802=)
c.2013C>G (p.Ser671=)
c.2475C>G (p.Ser825=)
c.2412C>G (p.Ser804=)
c.2409C>G (p.Ser803=)
c.2367C>G (p.Ser789=)
c.1440C>G (p.Ser480=)
20g.63406839G>TCA511339403KCNQ2c.2478C>A (p.Ser826=)
c.2424C>A (p.Ser808=)
c.1821C>A (p.Ser607=)
c.2331C>A (p.Ser777=)
c.1992C>A (p.Ser664=)
c.2340C>A (p.Ser780=)
c.2241+207C>A (n.2241+207C>A)
c.2205+207C>A (n.2205+207C>A)
c.2370C>A (p.Ser790=)
c.2133+207C>A (n.2133+207C>A)
c.1680-5996C>A (n.1680-5996C>A)
c.2466C>A (p.Ser822=)
c.2532C>A (p.Ser844=)
c.2529C>A (p.Ser843=)
c.2502C>A (p.Ser834=)
c.2448C>A (p.Ser816=)
c.2421C>A (p.Ser807=)
c.2406C>A (p.Ser802=)
c.2013C>A (p.Ser671=)
c.2475C>A (p.Ser825=)
c.2412C>A (p.Ser804=)
c.2409C>A (p.Ser803=)
c.2367C>A (p.Ser789=)
c.1440C>A (p.Ser480=)
20g.63406840G>ACA409637145KCNQ2c.2477C>T (p.Ser826Phe)
c.2423C>T (p.Ser808Phe)
c.1820C>T (p.Ser607Phe)
c.2330C>T (p.Ser777Phe)
c.1991C>T (p.Ser664Phe)
c.2339C>T (p.Ser780Phe)
c.2241+206C>T (n.2241+206C>T)
c.2205+206C>T (n.2205+206C>T)
c.2369C>T (p.Ser790Phe)
c.2133+206C>T (n.2133+206C>T)
c.1680-5997C>T (n.1680-5997C>T)
c.2465C>T (p.Ser822Phe)
c.2531C>T (p.Ser844Phe)
c.2528C>T (p.Ser843Phe)
c.2501C>T (p.Ser834Phe)
c.2447C>T (p.Ser816Phe)
c.2420C>T (p.Ser807Phe)
c.2405C>T (p.Ser802Phe)
c.2012C>T (p.Ser671Phe)
c.2474C>T (p.Ser825Phe)
c.2411C>T (p.Ser804Phe)
c.2408C>T (p.Ser803Phe)
c.2366C>T (p.Ser789Phe)
c.1439C>T (p.Ser480Phe)
 gnomAD v4
20g.63406840G>CCA409637142KCNQ2c.2477C>G (p.Ser826Cys)
c.2423C>G (p.Ser808Cys)
c.1820C>G (p.Ser607Cys)
c.2330C>G (p.Ser777Cys)
c.1991C>G (p.Ser664Cys)
c.2339C>G (p.Ser780Cys)
c.2241+206C>G (n.2241+206C>G)
c.2205+206C>G (n.2205+206C>G)
c.2369C>G (p.Ser790Cys)
c.2133+206C>G (n.2133+206C>G)
c.1680-5997C>G (n.1680-5997C>G)
c.2465C>G (p.Ser822Cys)
c.2531C>G (p.Ser844Cys)
c.2528C>G (p.Ser843Cys)
c.2501C>G (p.Ser834Cys)
c.2447C>G (p.Ser816Cys)
c.2420C>G (p.Ser807Cys)
c.2405C>G (p.Ser802Cys)
c.2012C>G (p.Ser671Cys)
c.2474C>G (p.Ser825Cys)
c.2411C>G (p.Ser804Cys)
c.2408C>G (p.Ser803Cys)
c.2366C>G (p.Ser789Cys)
c.1439C>G (p.Ser480Cys)
20g.63406840G>TCA409637144KCNQ2c.2477C>A (p.Ser826Tyr)
c.2423C>A (p.Ser808Tyr)
c.1820C>A (p.Ser607Tyr)
c.2330C>A (p.Ser777Tyr)
c.1991C>A (p.Ser664Tyr)
c.2339C>A (p.Ser780Tyr)
c.2241+206C>A (n.2241+206C>A)
c.2205+206C>A (n.2205+206C>A)
c.2369C>A (p.Ser790Tyr)
c.2133+206C>A (n.2133+206C>A)
c.1680-5997C>A (n.1680-5997C>A)
c.2465C>A (p.Ser822Tyr)
c.2531C>A (p.Ser844Tyr)
c.2528C>A (p.Ser843Tyr)
c.2501C>A (p.Ser834Tyr)
c.2447C>A (p.Ser816Tyr)
c.2420C>A (p.Ser807Tyr)
c.2405C>A (p.Ser802Tyr)
c.2012C>A (p.Ser671Tyr)
c.2474C>A (p.Ser825Tyr)
c.2411C>A (p.Ser804Tyr)
c.2408C>A (p.Ser803Tyr)
c.2366C>A (p.Ser789Tyr)
c.1439C>A (p.Ser480Tyr)
 gnomAD v4 COSMIC COSMIC COSMIC
20g.63406841A>CCA409637151KCNQ2c.2476T>G (p.Ser826Ala)
c.2422T>G (p.Ser808Ala)
c.1819T>G (p.Ser607Ala)
c.2329T>G (p.Ser777Ala)
c.1990T>G (p.Ser664Ala)
c.2338T>G (p.Ser780Ala)
c.2241+205T>G (n.2241+205T>G)
c.2205+205T>G (n.2205+205T>G)
c.2368T>G (p.Ser790Ala)
c.2133+205T>G (n.2133+205T>G)
c.1680-5998T>G (n.1680-5998T>G)
c.2464T>G (p.Ser822Ala)
c.2530T>G (p.Ser844Ala)
c.2527T>G (p.Ser843Ala)
c.2500T>G (p.Ser834Ala)
c.2446T>G (p.Ser816Ala)
c.2419T>G (p.Ser807Ala)
c.2404T>G (p.Ser802Ala)
c.2011T>G (p.Ser671Ala)
c.2473T>G (p.Ser825Ala)
c.2410T>G (p.Ser804Ala)
c.2407T>G (p.Ser803Ala)
c.2365T>G (p.Ser789Ala)
c.1438T>G (p.Ser480Ala)
20g.63406841A>GCA409637153KCNQ2c.2476T>C (p.Ser826Pro)
c.2422T>C (p.Ser808Pro)
c.1819T>C (p.Ser607Pro)
c.2329T>C (p.Ser777Pro)
c.1990T>C (p.Ser664Pro)
c.2338T>C (p.Ser780Pro)
c.2241+205T>C (n.2241+205T>C)
c.2205+205T>C (n.2205+205T>C)
c.2368T>C (p.Ser790Pro)
c.2133+205T>C (n.2133+205T>C)
c.1680-5998T>C (n.1680-5998T>C)
c.2464T>C (p.Ser822Pro)
c.2530T>C (p.Ser844Pro)
c.2527T>C (p.Ser843Pro)
c.2500T>C (p.Ser834Pro)
c.2446T>C (p.Ser816Pro)
c.2419T>C (p.Ser807Pro)
c.2404T>C (p.Ser802Pro)
c.2011T>C (p.Ser671Pro)
c.2473T>C (p.Ser825Pro)
c.2410T>C (p.Ser804Pro)
c.2407T>C (p.Ser803Pro)
c.2365T>C (p.Ser789Pro)
c.1438T>C (p.Ser480Pro)
 gnomAD v4
20g.63406841A>TCA409637154KCNQ2c.2476T>A (p.Ser826Thr)
c.2422T>A (p.Ser808Thr)
c.1819T>A (p.Ser607Thr)
c.2329T>A (p.Ser777Thr)
c.1990T>A (p.Ser664Thr)
c.2338T>A (p.Ser780Thr)
c.2241+205T>A (n.2241+205T>A)
c.2205+205T>A (n.2205+205T>A)
c.2368T>A (p.Ser790Thr)
c.2133+205T>A (n.2133+205T>A)
c.1680-5998T>A (n.1680-5998T>A)
c.2464T>A (p.Ser822Thr)
c.2530T>A (p.Ser844Thr)
c.2527T>A (p.Ser843Thr)
c.2500T>A (p.Ser834Thr)
c.2446T>A (p.Ser816Thr)
c.2419T>A (p.Ser807Thr)
c.2404T>A (p.Ser802Thr)
c.2011T>A (p.Ser671Thr)
c.2473T>A (p.Ser825Thr)
c.2410T>A (p.Ser804Thr)
c.2407T>A (p.Ser803Thr)
c.2365T>A (p.Ser789Thr)
c.1438T>A (p.Ser480Thr)
20g.63406842G>ACA9958078KCNQ2c.2475C>T (p.Ile825=)
c.2421C>T (p.Ile807=)
c.1818C>T (p.Ile606=)
c.2328C>T (p.Ile776=)
c.1989C>T (p.Ile663=)
c.2337C>T (p.Ile779=)
c.2241+204C>T (n.2241+204C>T)
c.2205+204C>T (n.2205+204C>T)
c.2367C>T (p.Ile789=)
c.2133+204C>T (n.2133+204C>T)
c.1680-5999C>T (n.1680-5999C>T)
c.2463C>T (p.Ile821=)
c.2529C>T (p.Ile843=)
c.2526C>T (p.Ile842=)
c.2499C>T (p.Ile833=)
c.2445C>T (p.Ile815=)
c.2418C>T (p.Ile806=)
c.2403C>T (p.Ile801=)
c.2010C>T (p.Ile670=)
c.2472C>T (p.Ile824=)
c.2409C>T (p.Ile803=)
c.2406C>T (p.Ile802=)
c.2364C>T (p.Ile788=)
c.1437C>T (p.Ile479=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406842G>CCA409637157KCNQ2c.2475C>G (p.Ile825Met)
c.2421C>G (p.Ile807Met)
c.1818C>G (p.Ile606Met)
c.2328C>G (p.Ile776Met)
c.1989C>G (p.Ile663Met)
c.2337C>G (p.Ile779Met)
c.2241+204C>G (n.2241+204C>G)
c.2205+204C>G (n.2205+204C>G)
c.2367C>G (p.Ile789Met)
c.2133+204C>G (n.2133+204C>G)
c.1680-5999C>G (n.1680-5999C>G)
c.2463C>G (p.Ile821Met)
c.2529C>G (p.Ile843Met)
c.2526C>G (p.Ile842Met)
c.2499C>G (p.Ile833Met)
c.2445C>G (p.Ile815Met)
c.2418C>G (p.Ile806Met)
c.2403C>G (p.Ile801Met)
c.2010C>G (p.Ile670Met)
c.2472C>G (p.Ile824Met)
c.2409C>G (p.Ile803Met)
c.2406C>G (p.Ile802Met)
c.2364C>G (p.Ile788Met)
c.1437C>G (p.Ile479Met)
20g.63406842G=CA2374774268KCNQ2c.2475C= (p.Ile825=)
c.2421C= (p.Ile807=)
c.1818C= (p.Ile606=)
c.2328C= (p.Ile776=)
c.1989C= (p.Ile663=)
c.2337C= (p.Ile779=)
c.2241+204C= (n.2241+204C=)
c.2205+204C= (n.2205+204C=)
c.2367C= (p.Ile789=)
c.2133+204C= (n.2133+204C=)
c.1680-5999C= (n.1680-5999C=)
c.2463C= (p.Ile821=)
c.2529C= (p.Ile843=)
c.2526C= (p.Ile842=)
c.2499C= (p.Ile833=)
c.2445C= (p.Ile815=)
c.2418C= (p.Ile806=)
c.2403C= (p.Ile801=)
c.2010C= (p.Ile670=)
c.2472C= (p.Ile824=)
c.2409C= (p.Ile803=)
c.2406C= (p.Ile802=)
c.2364C= (p.Ile788=)
c.1437C= (p.Ile479=)
20g.63406842G>TCA511339406KCNQ2c.2475C>A (p.Ile825=)
c.2421C>A (p.Ile807=)
c.1818C>A (p.Ile606=)
c.2328C>A (p.Ile776=)
c.1989C>A (p.Ile663=)
c.2337C>A (p.Ile779=)
c.2241+204C>A (n.2241+204C>A)
c.2205+204C>A (n.2205+204C>A)
c.2367C>A (p.Ile789=)
c.2133+204C>A (n.2133+204C>A)
c.1680-5999C>A (n.1680-5999C>A)
c.2463C>A (p.Ile821=)
c.2529C>A (p.Ile843=)
c.2526C>A (p.Ile842=)
c.2499C>A (p.Ile833=)
c.2445C>A (p.Ile815=)
c.2418C>A (p.Ile806=)
c.2403C>A (p.Ile801=)
c.2010C>A (p.Ile670=)
c.2472C>A (p.Ile824=)
c.2409C>A (p.Ile803=)
c.2406C>A (p.Ile802=)
c.2364C>A (p.Ile788=)
c.1437C>A (p.Ile479=)
20g.63406843A>CCA409637160KCNQ2c.2474T>G (p.Ile825Ser)
c.2420T>G (p.Ile807Ser)
c.1817T>G (p.Ile606Ser)
c.2327T>G (p.Ile776Ser)
c.1988T>G (p.Ile663Ser)
c.2336T>G (p.Ile779Ser)
c.2241+203T>G (n.2241+203T>G)
c.2205+203T>G (n.2205+203T>G)
c.2366T>G (p.Ile789Ser)
c.2133+203T>G (n.2133+203T>G)
c.1680-6000T>G (n.1680-6000T>G)
c.2462T>G (p.Ile821Ser)
c.2528T>G (p.Ile843Ser)
c.2525T>G (p.Ile842Ser)
c.2498T>G (p.Ile833Ser)
c.2444T>G (p.Ile815Ser)
c.2417T>G (p.Ile806Ser)
c.2402T>G (p.Ile801Ser)
c.2009T>G (p.Ile670Ser)
c.2471T>G (p.Ile824Ser)
c.2408T>G (p.Ile803Ser)
c.2405T>G (p.Ile802Ser)
c.2363T>G (p.Ile788Ser)
c.1436T>G (p.Ile479Ser)
20g.63406843A>GCA409637162KCNQ2c.2474T>C (p.Ile825Thr)
c.2420T>C (p.Ile807Thr)
c.1817T>C (p.Ile606Thr)
c.2327T>C (p.Ile776Thr)
c.1988T>C (p.Ile663Thr)
c.2336T>C (p.Ile779Thr)
c.2241+203T>C (n.2241+203T>C)
c.2205+203T>C (n.2205+203T>C)
c.2366T>C (p.Ile789Thr)
c.2133+203T>C (n.2133+203T>C)
c.1680-6000T>C (n.1680-6000T>C)
c.2462T>C (p.Ile821Thr)
c.2528T>C (p.Ile843Thr)
c.2525T>C (p.Ile842Thr)
c.2498T>C (p.Ile833Thr)
c.2444T>C (p.Ile815Thr)
c.2417T>C (p.Ile806Thr)
c.2402T>C (p.Ile801Thr)
c.2009T>C (p.Ile670Thr)
c.2471T>C (p.Ile824Thr)
c.2408T>C (p.Ile803Thr)
c.2405T>C (p.Ile802Thr)
c.2363T>C (p.Ile788Thr)
c.1436T>C (p.Ile479Thr)
 gnomAD v4
20g.63406843A>TCA409637163KCNQ2c.2474T>A (p.Ile825Asn)
c.2420T>A (p.Ile807Asn)
c.1817T>A (p.Ile606Asn)
c.2327T>A (p.Ile776Asn)
c.1988T>A (p.Ile663Asn)
c.2336T>A (p.Ile779Asn)
c.2241+203T>A (n.2241+203T>A)
c.2205+203T>A (n.2205+203T>A)
c.2366T>A (p.Ile789Asn)
c.2133+203T>A (n.2133+203T>A)
c.1680-6000T>A (n.1680-6000T>A)
c.2462T>A (p.Ile821Asn)
c.2528T>A (p.Ile843Asn)
c.2525T>A (p.Ile842Asn)
c.2498T>A (p.Ile833Asn)
c.2444T>A (p.Ile815Asn)
c.2417T>A (p.Ile806Asn)
c.2402T>A (p.Ile801Asn)
c.2009T>A (p.Ile670Asn)
c.2471T>A (p.Ile824Asn)
c.2408T>A (p.Ile803Asn)
c.2405T>A (p.Ile802Asn)
c.2363T>A (p.Ile788Asn)
c.1436T>A (p.Ile479Asn)
20g.63406844T>ACA409637166KCNQ2c.2473A>T (p.Ile825Phe)
c.2419A>T (p.Ile807Phe)
c.1816A>T (p.Ile606Phe)
c.2326A>T (p.Ile776Phe)
c.1987A>T (p.Ile663Phe)
c.2335A>T (p.Ile779Phe)
c.2241+202A>T (n.2241+202A>T)
c.2205+202A>T (n.2205+202A>T)
c.2365A>T (p.Ile789Phe)
c.2133+202A>T (n.2133+202A>T)
c.1680-6001A>T (n.1680-6001A>T)
c.2461A>T (p.Ile821Phe)
c.2527A>T (p.Ile843Phe)
c.2524A>T (p.Ile842Phe)
c.2497A>T (p.Ile833Phe)
c.2443A>T (p.Ile815Phe)
c.2416A>T (p.Ile806Phe)
c.2401A>T (p.Ile801Phe)
c.2008A>T (p.Ile670Phe)
c.2470A>T (p.Ile824Phe)
c.2407A>T (p.Ile803Phe)
c.2404A>T (p.Ile802Phe)
c.2362A>T (p.Ile788Phe)
c.1435A>T (p.Ile479Phe)
20g.63406844T>CCA409637168KCNQ2c.2473A>G (p.Ile825Val)
c.2419A>G (p.Ile807Val)
c.1816A>G (p.Ile606Val)
c.2326A>G (p.Ile776Val)
c.1987A>G (p.Ile663Val)
c.2335A>G (p.Ile779Val)
c.2241+202A>G (n.2241+202A>G)
c.2205+202A>G (n.2205+202A>G)
c.2365A>G (p.Ile789Val)
c.2133+202A>G (n.2133+202A>G)
c.1680-6001A>G (n.1680-6001A>G)
c.2461A>G (p.Ile821Val)
c.2527A>G (p.Ile843Val)
c.2524A>G (p.Ile842Val)
c.2497A>G (p.Ile833Val)
c.2443A>G (p.Ile815Val)
c.2416A>G (p.Ile806Val)
c.2401A>G (p.Ile801Val)
c.2008A>G (p.Ile670Val)
c.2470A>G (p.Ile824Val)
c.2407A>G (p.Ile803Val)
c.2404A>G (p.Ile802Val)
c.2362A>G (p.Ile788Val)
c.1435A>G (p.Ile479Val)
 dbSNP gnomAD v4 COSMIC COSMIC COSMIC
20g.63406844T>GCA409637169KCNQ2c.2473A>C (p.Ile825Leu)
c.2419A>C (p.Ile807Leu)
c.1816A>C (p.Ile606Leu)
c.2326A>C (p.Ile776Leu)
c.1987A>C (p.Ile663Leu)
c.2335A>C (p.Ile779Leu)
c.2241+202A>C (n.2241+202A>C)
c.2205+202A>C (n.2205+202A>C)
c.2365A>C (p.Ile789Leu)
c.2133+202A>C (n.2133+202A>C)
c.1680-6001A>C (n.1680-6001A>C)
c.2461A>C (p.Ile821Leu)
c.2527A>C (p.Ile843Leu)
c.2524A>C (p.Ile842Leu)
c.2497A>C (p.Ile833Leu)
c.2443A>C (p.Ile815Leu)
c.2416A>C (p.Ile806Leu)
c.2401A>C (p.Ile801Leu)
c.2008A>C (p.Ile670Leu)
c.2470A>C (p.Ile824Leu)
c.2407A>C (p.Ile803Leu)
c.2404A>C (p.Ile802Leu)
c.2362A>C (p.Ile788Leu)
c.1435A>C (p.Ile479Leu)
 ClinVar dbSNP
20g.63406844T=CA2374774269KCNQ2c.2473A= (p.Ile825=)
c.2419A= (p.Ile807=)
c.1816A= (p.Ile606=)
c.2326A= (p.Ile776=)
c.1987A= (p.Ile663=)
c.2335A= (p.Ile779=)
c.2241+202A= (n.2241+202A=)
c.2205+202A= (n.2205+202A=)
c.2365A= (p.Ile789=)
c.2133+202A= (n.2133+202A=)
c.1680-6001A= (n.1680-6001A=)
c.2461A= (p.Ile821=)
c.2527A= (p.Ile843=)
c.2524A= (p.Ile842=)
c.2497A= (p.Ile833=)
c.2443A= (p.Ile815=)
c.2416A= (p.Ile806=)
c.2401A= (p.Ile801=)
c.2008A= (p.Ile670=)
c.2470A= (p.Ile824=)
c.2407A= (p.Ile803=)
c.2404A= (p.Ile802=)
c.2362A= (p.Ile788=)
c.1435A= (p.Ile479=)
20g.63406845delCA2573157287KCNQ2c.2472del (p.Ser824ArgfsTer?)
c.2418del (p.Ser806ArgfsTer?)
c.1815del (p.Ser605ArgfsTer?)
c.2325del (p.Ser775ArgfsTer?)
c.1986del (p.Ser662ArgfsTer?)
c.2334del (p.Ser778ArgfsTer?)
c.2241+201del (n.2241+201del)
c.2205+201del (n.2205+201del)
c.2364del (p.Ser788ArgfsTer?)
c.2133+201del (n.2133+201del)
c.1680-6002del (n.1680-6002del)
c.2460del (p.Ser820ArgfsTer?)
c.2526del (p.Ser842ArgfsTer?)
c.2523del (p.Ser841ArgfsTer?)
c.2496del (p.Ser832ArgfsTer?)
c.2442del (p.Ser814ArgfsTer?)
c.2415del (p.Ser805ArgfsTer?)
c.2400del (p.Ser800ArgfsTer?)
c.2007del (p.Ser669ArgfsTer?)
c.2469del (p.Ser823ArgfsTer?)
c.2406del (p.Ser802ArgfsTer?)
c.2403del (p.Ser801ArgfsTer?)
c.2361del (p.Ser787ArgfsTer?)
c.1434del (p.Ser478ArgfsTer?)
 ClinVar dbSNP
20g.63406845G>ACA511339409KCNQ2c.2472C>T (p.Ser824=)
c.2418C>T (p.Ser806=)
c.1815C>T (p.Ser605=)
c.2325C>T (p.Ser775=)
c.1986C>T (p.Ser662=)
c.2334C>T (p.Ser778=)
c.2241+201C>T (n.2241+201C>T)
c.2205+201C>T (n.2205+201C>T)
c.2364C>T (p.Ser788=)
c.2133+201C>T (n.2133+201C>T)
c.1680-6002C>T (n.1680-6002C>T)
c.2460C>T (p.Ser820=)
c.2526C>T (p.Ser842=)
c.2523C>T (p.Ser841=)
c.2496C>T (p.Ser832=)
c.2442C>T (p.Ser814=)
c.2415C>T (p.Ser805=)
c.2400C>T (p.Ser800=)
c.2007C>T (p.Ser669=)
c.2469C>T (p.Ser823=)
c.2406C>T (p.Ser802=)
c.2403C>T (p.Ser801=)
c.2361C>T (p.Ser787=)
c.1434C>T (p.Ser478=)
 gnomAD v4
20g.63406845G>CCA409637173KCNQ2c.2472C>G (p.Ser824Arg)
c.2418C>G (p.Ser806Arg)
c.1815C>G (p.Ser605Arg)
c.2325C>G (p.Ser775Arg)
c.1986C>G (p.Ser662Arg)
c.2334C>G (p.Ser778Arg)
c.2241+201C>G (n.2241+201C>G)
c.2205+201C>G (n.2205+201C>G)
c.2364C>G (p.Ser788Arg)
c.2133+201C>G (n.2133+201C>G)
c.1680-6002C>G (n.1680-6002C>G)
c.2460C>G (p.Ser820Arg)
c.2526C>G (p.Ser842Arg)
c.2523C>G (p.Ser841Arg)
c.2496C>G (p.Ser832Arg)
c.2442C>G (p.Ser814Arg)
c.2415C>G (p.Ser805Arg)
c.2400C>G (p.Ser800Arg)
c.2007C>G (p.Ser669Arg)
c.2469C>G (p.Ser823Arg)
c.2406C>G (p.Ser802Arg)
c.2403C>G (p.Ser801Arg)
c.2361C>G (p.Ser787Arg)
c.1434C>G (p.Ser478Arg)
20g.63406845G>TCA409637172KCNQ2c.2472C>A (p.Ser824Arg)
c.2418C>A (p.Ser806Arg)
c.1815C>A (p.Ser605Arg)
c.2325C>A (p.Ser775Arg)
c.1986C>A (p.Ser662Arg)
c.2334C>A (p.Ser778Arg)
c.2241+201C>A (n.2241+201C>A)
c.2205+201C>A (n.2205+201C>A)
c.2364C>A (p.Ser788Arg)
c.2133+201C>A (n.2133+201C>A)
c.1680-6002C>A (n.1680-6002C>A)
c.2460C>A (p.Ser820Arg)
c.2526C>A (p.Ser842Arg)
c.2523C>A (p.Ser841Arg)
c.2496C>A (p.Ser832Arg)
c.2442C>A (p.Ser814Arg)
c.2415C>A (p.Ser805Arg)
c.2400C>A (p.Ser800Arg)
c.2007C>A (p.Ser669Arg)
c.2469C>A (p.Ser823Arg)
c.2406C>A (p.Ser802Arg)
c.2403C>A (p.Ser801Arg)
c.2361C>A (p.Ser787Arg)
c.1434C>A (p.Ser478Arg)
20g.63406846C>ACA409637174KCNQ2c.2471G>T (p.Ser824Ile)
c.2417G>T (p.Ser806Ile)
c.1814G>T (p.Ser605Ile)
c.2324G>T (p.Ser775Ile)
c.1985G>T (p.Ser662Ile)
c.2333G>T (p.Ser778Ile)
c.2241+200G>T (n.2241+200G>T)
c.2205+200G>T (n.2205+200G>T)
c.2363G>T (p.Ser788Ile)
c.2133+200G>T (n.2133+200G>T)
c.1680-6003G>T (n.1680-6003G>T)
c.2459G>T (p.Ser820Ile)
c.2525G>T (p.Ser842Ile)
c.2522G>T (p.Ser841Ile)
c.2495G>T (p.Ser832Ile)
c.2441G>T (p.Ser814Ile)
c.2414G>T (p.Ser805Ile)
c.2399G>T (p.Ser800Ile)
c.2006G>T (p.Ser669Ile)
c.2468G>T (p.Ser823Ile)
c.2405G>T (p.Ser802Ile)
c.2402G>T (p.Ser801Ile)
c.2360G>T (p.Ser787Ile)
c.1433G>T (p.Ser478Ile)
 gnomAD v4
20g.63406846C>GCA409637177KCNQ2c.2471G>C (p.Ser824Thr)
c.2417G>C (p.Ser806Thr)
c.1814G>C (p.Ser605Thr)
c.2324G>C (p.Ser775Thr)
c.1985G>C (p.Ser662Thr)
c.2333G>C (p.Ser778Thr)
c.2241+200G>C (n.2241+200G>C)
c.2205+200G>C (n.2205+200G>C)
c.2363G>C (p.Ser788Thr)
c.2133+200G>C (n.2133+200G>C)
c.1680-6003G>C (n.1680-6003G>C)
c.2459G>C (p.Ser820Thr)
c.2525G>C (p.Ser842Thr)
c.2522G>C (p.Ser841Thr)
c.2495G>C (p.Ser832Thr)
c.2441G>C (p.Ser814Thr)
c.2414G>C (p.Ser805Thr)
c.2399G>C (p.Ser800Thr)
c.2006G>C (p.Ser669Thr)
c.2468G>C (p.Ser823Thr)
c.2405G>C (p.Ser802Thr)
c.2402G>C (p.Ser801Thr)
c.2360G>C (p.Ser787Thr)
c.1433G>C (p.Ser478Thr)
20g.63406846C>TCA409637183KCNQ2c.2471G>A (p.Ser824Asn)
c.2417G>A (p.Ser806Asn)
c.1814G>A (p.Ser605Asn)
c.2324G>A (p.Ser775Asn)
c.1985G>A (p.Ser662Asn)
c.2333G>A (p.Ser778Asn)
c.2241+200G>A (n.2241+200G>A)
c.2205+200G>A (n.2205+200G>A)
c.2363G>A (p.Ser788Asn)
c.2133+200G>A (n.2133+200G>A)
c.1680-6003G>A (n.1680-6003G>A)
c.2459G>A (p.Ser820Asn)
c.2525G>A (p.Ser842Asn)
c.2522G>A (p.Ser841Asn)
c.2495G>A (p.Ser832Asn)
c.2441G>A (p.Ser814Asn)
c.2414G>A (p.Ser805Asn)
c.2399G>A (p.Ser800Asn)
c.2006G>A (p.Ser669Asn)
c.2468G>A (p.Ser823Asn)
c.2405G>A (p.Ser802Asn)
c.2402G>A (p.Ser801Asn)
c.2360G>A (p.Ser787Asn)
c.1433G>A (p.Ser478Asn)
20g.63406847T>ACA409637185KCNQ2c.2470A>T (p.Ser824Cys)
c.2416A>T (p.Ser806Cys)
c.1813A>T (p.Ser605Cys)
c.2323A>T (p.Ser775Cys)
c.1984A>T (p.Ser662Cys)
c.2332A>T (p.Ser778Cys)
c.2241+199A>T (n.2241+199A>T)
c.2205+199A>T (n.2205+199A>T)
c.2362A>T (p.Ser788Cys)
c.2133+199A>T (n.2133+199A>T)
c.1680-6004A>T (n.1680-6004A>T)
c.2458A>T (p.Ser820Cys)
c.2524A>T (p.Ser842Cys)
c.2521A>T (p.Ser841Cys)
c.2494A>T (p.Ser832Cys)
c.2440A>T (p.Ser814Cys)
c.2413A>T (p.Ser805Cys)
c.2398A>T (p.Ser800Cys)
c.2005A>T (p.Ser669Cys)
c.2467A>T (p.Ser823Cys)
c.2404A>T (p.Ser802Cys)
c.2401A>T (p.Ser801Cys)
c.2359A>T (p.Ser787Cys)
c.1432A>T (p.Ser478Cys)
20g.63406847T>CCA409637186KCNQ2c.2470A>G (p.Ser824Gly)
c.2416A>G (p.Ser806Gly)
c.1813A>G (p.Ser605Gly)
c.2323A>G (p.Ser775Gly)
c.1984A>G (p.Ser662Gly)
c.2332A>G (p.Ser778Gly)
c.2241+199A>G (n.2241+199A>G)
c.2205+199A>G (n.2205+199A>G)
c.2362A>G (p.Ser788Gly)
c.2133+199A>G (n.2133+199A>G)
c.1680-6004A>G (n.1680-6004A>G)
c.2458A>G (p.Ser820Gly)
c.2524A>G (p.Ser842Gly)
c.2521A>G (p.Ser841Gly)
c.2494A>G (p.Ser832Gly)
c.2440A>G (p.Ser814Gly)
c.2413A>G (p.Ser805Gly)
c.2398A>G (p.Ser800Gly)
c.2005A>G (p.Ser669Gly)
c.2467A>G (p.Ser823Gly)
c.2404A>G (p.Ser802Gly)
c.2401A>G (p.Ser801Gly)
c.2359A>G (p.Ser787Gly)
c.1432A>G (p.Ser478Gly)
20g.63406847T>GCA409637187KCNQ2c.2470A>C (p.Ser824Arg)
c.2416A>C (p.Ser806Arg)
c.1813A>C (p.Ser605Arg)
c.2323A>C (p.Ser775Arg)
c.1984A>C (p.Ser662Arg)
c.2332A>C (p.Ser778Arg)
c.2241+199A>C (n.2241+199A>C)
c.2205+199A>C (n.2205+199A>C)
c.2362A>C (p.Ser788Arg)
c.2133+199A>C (n.2133+199A>C)
c.1680-6004A>C (n.1680-6004A>C)
c.2458A>C (p.Ser820Arg)
c.2524A>C (p.Ser842Arg)
c.2521A>C (p.Ser841Arg)
c.2494A>C (p.Ser832Arg)
c.2440A>C (p.Ser814Arg)
c.2413A>C (p.Ser805Arg)
c.2398A>C (p.Ser800Arg)
c.2005A>C (p.Ser669Arg)
c.2467A>C (p.Ser823Arg)
c.2404A>C (p.Ser802Arg)
c.2401A>C (p.Ser801Arg)
c.2359A>C (p.Ser787Arg)
c.1432A>C (p.Ser478Arg)
20g.63406848G>ACA511339411KCNQ2c.2469C>T (p.Phe823=)
c.2415C>T (p.Phe805=)
c.1812C>T (p.Phe604=)
c.2322C>T (p.Phe774=)
c.1983C>T (p.Phe661=)
c.2331C>T (p.Phe777=)
c.2241+198C>T (n.2241+198C>T)
c.2205+198C>T (n.2205+198C>T)
c.2361C>T (p.Phe787=)
c.2133+198C>T (n.2133+198C>T)
c.1680-6005C>T (n.1680-6005C>T)
c.2457C>T (p.Phe819=)
c.2523C>T (p.Phe841=)
c.2520C>T (p.Phe840=)
c.2493C>T (p.Phe831=)
c.2439C>T (p.Phe813=)
c.2412C>T (p.Phe804=)
c.2397C>T (p.Phe799=)
c.2004C>T (p.Phe668=)
c.2466C>T (p.Phe822=)
c.2403C>T (p.Phe801=)
c.2400C>T (p.Phe800=)
c.2358C>T (p.Phe786=)
c.1431C>T (p.Phe477=)
 dbSNP gnomAD v4
20g.63406848G>CCA409637189KCNQ2c.2469C>G (p.Phe823Leu)
c.2415C>G (p.Phe805Leu)
c.1812C>G (p.Phe604Leu)
c.2322C>G (p.Phe774Leu)
c.1983C>G (p.Phe661Leu)
c.2331C>G (p.Phe777Leu)
c.2241+198C>G (n.2241+198C>G)
c.2205+198C>G (n.2205+198C>G)
c.2361C>G (p.Phe787Leu)
c.2133+198C>G (n.2133+198C>G)
c.1680-6005C>G (n.1680-6005C>G)
c.2457C>G (p.Phe819Leu)
c.2523C>G (p.Phe841Leu)
c.2520C>G (p.Phe840Leu)
c.2493C>G (p.Phe831Leu)
c.2439C>G (p.Phe813Leu)
c.2412C>G (p.Phe804Leu)
c.2397C>G (p.Phe799Leu)
c.2004C>G (p.Phe668Leu)
c.2466C>G (p.Phe822Leu)
c.2403C>G (p.Phe801Leu)
c.2400C>G (p.Phe800Leu)
c.2358C>G (p.Phe786Leu)
c.1431C>G (p.Phe477Leu)
20g.63406848G=CA2374774270KCNQ2c.2469C= (p.Phe823=)
c.2415C= (p.Phe805=)
c.1812C= (p.Phe604=)
c.2322C= (p.Phe774=)
c.1983C= (p.Phe661=)
c.2331C= (p.Phe777=)
c.2241+198C= (n.2241+198C=)
c.2205+198C= (n.2205+198C=)
c.2361C= (p.Phe787=)
c.2133+198C= (n.2133+198C=)
c.1680-6005C= (n.1680-6005C=)
c.2457C= (p.Phe819=)
c.2523C= (p.Phe841=)
c.2520C= (p.Phe840=)
c.2493C= (p.Phe831=)
c.2439C= (p.Phe813=)
c.2412C= (p.Phe804=)
c.2397C= (p.Phe799=)
c.2004C= (p.Phe668=)
c.2466C= (p.Phe822=)
c.2403C= (p.Phe801=)
c.2400C= (p.Phe800=)
c.2358C= (p.Phe786=)
c.1431C= (p.Phe477=)
20g.63406848G>TCA409637188KCNQ2c.2469C>A (p.Phe823Leu)
c.2415C>A (p.Phe805Leu)
c.1812C>A (p.Phe604Leu)
c.2322C>A (p.Phe774Leu)
c.1983C>A (p.Phe661Leu)
c.2331C>A (p.Phe777Leu)
c.2241+198C>A (n.2241+198C>A)
c.2205+198C>A (n.2205+198C>A)
c.2361C>A (p.Phe787Leu)
c.2133+198C>A (n.2133+198C>A)
c.1680-6005C>A (n.1680-6005C>A)
c.2457C>A (p.Phe819Leu)
c.2523C>A (p.Phe841Leu)
c.2520C>A (p.Phe840Leu)
c.2493C>A (p.Phe831Leu)
c.2439C>A (p.Phe813Leu)
c.2412C>A (p.Phe804Leu)
c.2397C>A (p.Phe799Leu)
c.2004C>A (p.Phe668Leu)
c.2466C>A (p.Phe822Leu)
c.2403C>A (p.Phe801Leu)
c.2400C>A (p.Phe800Leu)
c.2358C>A (p.Phe786Leu)
c.1431C>A (p.Phe477Leu)
20g.63406849A>CCA409637190KCNQ2c.2468T>G (p.Phe823Cys)
c.2414T>G (p.Phe805Cys)
c.1811T>G (p.Phe604Cys)
c.2321T>G (p.Phe774Cys)
c.1982T>G (p.Phe661Cys)
c.2330T>G (p.Phe777Cys)
c.2241+197T>G (n.2241+197T>G)
c.2205+197T>G (n.2205+197T>G)
c.2360T>G (p.Phe787Cys)
c.2133+197T>G (n.2133+197T>G)
c.1680-6006T>G (n.1680-6006T>G)
c.2456T>G (p.Phe819Cys)
c.2522T>G (p.Phe841Cys)
c.2519T>G (p.Phe840Cys)
c.2492T>G (p.Phe831Cys)
c.2438T>G (p.Phe813Cys)
c.2411T>G (p.Phe804Cys)
c.2396T>G (p.Phe799Cys)
c.2003T>G (p.Phe668Cys)
c.2465T>G (p.Phe822Cys)
c.2402T>G (p.Phe801Cys)
c.2399T>G (p.Phe800Cys)
c.2357T>G (p.Phe786Cys)
c.1430T>G (p.Phe477Cys)
20g.63406849A>GCA409637191KCNQ2c.2468T>C (p.Phe823Ser)
c.2414T>C (p.Phe805Ser)
c.1811T>C (p.Phe604Ser)
c.2321T>C (p.Phe774Ser)
c.1982T>C (p.Phe661Ser)
c.2330T>C (p.Phe777Ser)
c.2241+197T>C (n.2241+197T>C)
c.2205+197T>C (n.2205+197T>C)
c.2360T>C (p.Phe787Ser)
c.2133+197T>C (n.2133+197T>C)
c.1680-6006T>C (n.1680-6006T>C)
c.2456T>C (p.Phe819Ser)
c.2522T>C (p.Phe841Ser)
c.2519T>C (p.Phe840Ser)
c.2492T>C (p.Phe831Ser)
c.2438T>C (p.Phe813Ser)
c.2411T>C (p.Phe804Ser)
c.2396T>C (p.Phe799Ser)
c.2003T>C (p.Phe668Ser)
c.2465T>C (p.Phe822Ser)
c.2402T>C (p.Phe801Ser)
c.2399T>C (p.Phe800Ser)
c.2357T>C (p.Phe786Ser)
c.1430T>C (p.Phe477Ser)
20g.63406849A>TCA409637193KCNQ2c.2468T>A (p.Phe823Tyr)
c.2414T>A (p.Phe805Tyr)
c.1811T>A (p.Phe604Tyr)
c.2321T>A (p.Phe774Tyr)
c.1982T>A (p.Phe661Tyr)
c.2330T>A (p.Phe777Tyr)
c.2241+197T>A (n.2241+197T>A)
c.2205+197T>A (n.2205+197T>A)
c.2360T>A (p.Phe787Tyr)
c.2133+197T>A (n.2133+197T>A)
c.1680-6006T>A (n.1680-6006T>A)
c.2456T>A (p.Phe819Tyr)
c.2522T>A (p.Phe841Tyr)
c.2519T>A (p.Phe840Tyr)
c.2492T>A (p.Phe831Tyr)
c.2438T>A (p.Phe813Tyr)
c.2411T>A (p.Phe804Tyr)
c.2396T>A (p.Phe799Tyr)
c.2003T>A (p.Phe668Tyr)
c.2465T>A (p.Phe822Tyr)
c.2402T>A (p.Phe801Tyr)
c.2399T>A (p.Phe800Tyr)
c.2357T>A (p.Phe786Tyr)
c.1430T>A (p.Phe477Tyr)
20g.63406850A>CCA409637199KCNQ2c.2467T>G (p.Phe823Val)
c.2413T>G (p.Phe805Val)
c.1810T>G (p.Phe604Val)
c.2320T>G (p.Phe774Val)
c.1981T>G (p.Phe661Val)
c.2329T>G (p.Phe777Val)
c.2241+196T>G (n.2241+196T>G)
c.2205+196T>G (n.2205+196T>G)
c.2359T>G (p.Phe787Val)
c.2133+196T>G (n.2133+196T>G)
c.1680-6007T>G (n.1680-6007T>G)
c.2455T>G (p.Phe819Val)
c.2521T>G (p.Phe841Val)
c.2518T>G (p.Phe840Val)
c.2491T>G (p.Phe831Val)
c.2437T>G (p.Phe813Val)
c.2410T>G (p.Phe804Val)
c.2395T>G (p.Phe799Val)
c.2002T>G (p.Phe668Val)
c.2464T>G (p.Phe822Val)
c.2401T>G (p.Phe801Val)
c.2398T>G (p.Phe800Val)
c.2356T>G (p.Phe786Val)
c.1429T>G (p.Phe477Val)
 gnomAD v4
20g.63406850A>GCA409637200KCNQ2c.2467T>C (p.Phe823Leu)
c.2413T>C (p.Phe805Leu)
c.1810T>C (p.Phe604Leu)
c.2320T>C (p.Phe774Leu)
c.1981T>C (p.Phe661Leu)
c.2329T>C (p.Phe777Leu)
c.2241+196T>C (n.2241+196T>C)
c.2205+196T>C (n.2205+196T>C)
c.2359T>C (p.Phe787Leu)
c.2133+196T>C (n.2133+196T>C)
c.1680-6007T>C (n.1680-6007T>C)
c.2455T>C (p.Phe819Leu)
c.2521T>C (p.Phe841Leu)
c.2518T>C (p.Phe840Leu)
c.2491T>C (p.Phe831Leu)
c.2437T>C (p.Phe813Leu)
c.2410T>C (p.Phe804Leu)
c.2395T>C (p.Phe799Leu)
c.2002T>C (p.Phe668Leu)
c.2464T>C (p.Phe822Leu)
c.2401T>C (p.Phe801Leu)
c.2398T>C (p.Phe800Leu)
c.2356T>C (p.Phe786Leu)
c.1429T>C (p.Phe477Leu)
20g.63406850A>TCA409637203KCNQ2c.2467T>A (p.Phe823Ile)
c.2413T>A (p.Phe805Ile)
c.1810T>A (p.Phe604Ile)
c.2320T>A (p.Phe774Ile)
c.1981T>A (p.Phe661Ile)
c.2329T>A (p.Phe777Ile)
c.2241+196T>A (n.2241+196T>A)
c.2205+196T>A (n.2205+196T>A)
c.2359T>A (p.Phe787Ile)
c.2133+196T>A (n.2133+196T>A)
c.1680-6007T>A (n.1680-6007T>A)
c.2455T>A (p.Phe819Ile)
c.2521T>A (p.Phe841Ile)
c.2518T>A (p.Phe840Ile)
c.2491T>A (p.Phe831Ile)
c.2437T>A (p.Phe813Ile)
c.2410T>A (p.Phe804Ile)
c.2395T>A (p.Phe799Ile)
c.2002T>A (p.Phe668Ile)
c.2464T>A (p.Phe822Ile)
c.2401T>A (p.Phe801Ile)
c.2398T>A (p.Phe800Ile)
c.2356T>A (p.Phe786Ile)
c.1429T>A (p.Phe477Ile)
20g.63406851G>ACA317421760KCNQ2c.2466C>T (p.Gly822=)
c.2412C>T (p.Gly804=)
c.1809C>T (p.Gly603=)
c.2319C>T (p.Gly773=)
c.1980C>T (p.Gly660=)
c.2328C>T (p.Gly776=)
c.2241+195C>T (n.2241+195C>T)
c.2205+195C>T (n.2205+195C>T)
c.2358C>T (p.Gly786=)
c.2133+195C>T (n.2133+195C>T)
c.1680-6008C>T (n.1680-6008C>T)
c.2454C>T (p.Gly818=)
c.2520C>T (p.Gly840=)
c.2517C>T (p.Gly839=)
c.2490C>T (p.Gly830=)
c.2436C>T (p.Gly812=)
c.2409C>T (p.Gly803=)
c.2394C>T (p.Gly798=)
c.2001C>T (p.Gly667=)
c.2463C>T (p.Gly821=)
c.2400C>T (p.Gly800=)
c.2397C>T (p.Gly799=)
c.2355C>T (p.Gly785=)
c.1428C>T (p.Gly476=)
 dbSNP
20g.63406851G>CCA511339415KCNQ2c.2466C>G (p.Gly822=)
c.2412C>G (p.Gly804=)
c.1809C>G (p.Gly603=)
c.2319C>G (p.Gly773=)
c.1980C>G (p.Gly660=)
c.2328C>G (p.Gly776=)
c.2241+195C>G (n.2241+195C>G)
c.2205+195C>G (n.2205+195C>G)
c.2358C>G (p.Gly786=)
c.2133+195C>G (n.2133+195C>G)
c.1680-6008C>G (n.1680-6008C>G)
c.2454C>G (p.Gly818=)
c.2520C>G (p.Gly840=)
c.2517C>G (p.Gly839=)
c.2490C>G (p.Gly830=)
c.2436C>G (p.Gly812=)
c.2409C>G (p.Gly803=)
c.2394C>G (p.Gly798=)
c.2001C>G (p.Gly667=)
c.2463C>G (p.Gly821=)
c.2400C>G (p.Gly800=)
c.2397C>G (p.Gly799=)
c.2355C>G (p.Gly785=)
c.1428C>G (p.Gly476=)
20g.63406851G=CA2374774271KCNQ2c.2466C= (p.Gly822=)
c.2412C= (p.Gly804=)
c.1809C= (p.Gly603=)
c.2319C= (p.Gly773=)
c.1980C= (p.Gly660=)
c.2328C= (p.Gly776=)
c.2241+195C= (n.2241+195C=)
c.2205+195C= (n.2205+195C=)
c.2358C= (p.Gly786=)
c.2133+195C= (n.2133+195C=)
c.1680-6008C= (n.1680-6008C=)
c.2454C= (p.Gly818=)
c.2520C= (p.Gly840=)
c.2517C= (p.Gly839=)
c.2490C= (p.Gly830=)
c.2436C= (p.Gly812=)
c.2409C= (p.Gly803=)
c.2394C= (p.Gly798=)
c.2001C= (p.Gly667=)
c.2463C= (p.Gly821=)
c.2400C= (p.Gly800=)
c.2397C= (p.Gly799=)
c.2355C= (p.Gly785=)
c.1428C= (p.Gly476=)
20g.63406851G>TCA511339414KCNQ2c.2466C>A (p.Gly822=)
c.2412C>A (p.Gly804=)
c.1809C>A (p.Gly603=)
c.2319C>A (p.Gly773=)
c.1980C>A (p.Gly660=)
c.2328C>A (p.Gly776=)
c.2241+195C>A (n.2241+195C>A)
c.2205+195C>A (n.2205+195C>A)
c.2358C>A (p.Gly786=)
c.2133+195C>A (n.2133+195C>A)
c.1680-6008C>A (n.1680-6008C>A)
c.2454C>A (p.Gly818=)
c.2520C>A (p.Gly840=)
c.2517C>A (p.Gly839=)
c.2490C>A (p.Gly830=)
c.2436C>A (p.Gly812=)
c.2409C>A (p.Gly803=)
c.2394C>A (p.Gly798=)
c.2001C>A (p.Gly667=)
c.2463C>A (p.Gly821=)
c.2400C>A (p.Gly800=)
c.2397C>A (p.Gly799=)
c.2355C>A (p.Gly785=)
c.1428C>A (p.Gly476=)
 gnomAD v4
20g.63406852C>ACA409637205KCNQ2c.2465G>T (p.Gly822Val)
c.2411G>T (p.Gly804Val)
c.1808G>T (p.Gly603Val)
c.2318G>T (p.Gly773Val)
c.1979G>T (p.Gly660Val)
c.2327G>T (p.Gly776Val)
c.2241+194G>T (n.2241+194G>T)
c.2205+194G>T (n.2205+194G>T)
c.2357G>T (p.Gly786Val)
c.2133+194G>T (n.2133+194G>T)
c.1680-6009G>T (n.1680-6009G>T)
c.2453G>T (p.Gly818Val)
c.2519G>T (p.Gly840Val)
c.2516G>T (p.Gly839Val)
c.2489G>T (p.Gly830Val)
c.2435G>T (p.Gly812Val)
c.2408G>T (p.Gly803Val)
c.2393G>T (p.Gly798Val)
c.2000G>T (p.Gly667Val)
c.2462G>T (p.Gly821Val)
c.2399G>T (p.Gly800Val)
c.2396G>T (p.Gly799Val)
c.2354G>T (p.Gly785Val)
c.1427G>T (p.Gly476Val)
20g.63406852C>GCA409637209KCNQ2c.2465G>C (p.Gly822Ala)
c.2411G>C (p.Gly804Ala)
c.1808G>C (p.Gly603Ala)
c.2318G>C (p.Gly773Ala)
c.1979G>C (p.Gly660Ala)
c.2327G>C (p.Gly776Ala)
c.2241+194G>C (n.2241+194G>C)
c.2205+194G>C (n.2205+194G>C)
c.2357G>C (p.Gly786Ala)
c.2133+194G>C (n.2133+194G>C)
c.1680-6009G>C (n.1680-6009G>C)
c.2453G>C (p.Gly818Ala)
c.2519G>C (p.Gly840Ala)
c.2516G>C (p.Gly839Ala)
c.2489G>C (p.Gly830Ala)
c.2435G>C (p.Gly812Ala)
c.2408G>C (p.Gly803Ala)
c.2393G>C (p.Gly798Ala)
c.2000G>C (p.Gly667Ala)
c.2462G>C (p.Gly821Ala)
c.2399G>C (p.Gly800Ala)
c.2396G>C (p.Gly799Ala)
c.2354G>C (p.Gly785Ala)
c.1427G>C (p.Gly476Ala)
20g.63406852C>TCA409637207KCNQ2c.2465G>A (p.Gly822Asp)
c.2411G>A (p.Gly804Asp)
c.1808G>A (p.Gly603Asp)
c.2318G>A (p.Gly773Asp)
c.1979G>A (p.Gly660Asp)
c.2327G>A (p.Gly776Asp)
c.2241+194G>A (n.2241+194G>A)
c.2205+194G>A (n.2205+194G>A)
c.2357G>A (p.Gly786Asp)
c.2133+194G>A (n.2133+194G>A)
c.1680-6009G>A (n.1680-6009G>A)
c.2453G>A (p.Gly818Asp)
c.2519G>A (p.Gly840Asp)
c.2516G>A (p.Gly839Asp)
c.2489G>A (p.Gly830Asp)
c.2435G>A (p.Gly812Asp)
c.2408G>A (p.Gly803Asp)
c.2393G>A (p.Gly798Asp)
c.2000G>A (p.Gly667Asp)
c.2462G>A (p.Gly821Asp)
c.2399G>A (p.Gly800Asp)
c.2396G>A (p.Gly799Asp)
c.2354G>A (p.Gly785Asp)
c.1427G>A (p.Gly476Asp)
20g.63406853C>ACA409637212KCNQ2c.2464G>T (p.Gly822Cys)
c.2410G>T (p.Gly804Cys)
c.1807G>T (p.Gly603Cys)
c.2317G>T (p.Gly773Cys)
c.1978G>T (p.Gly660Cys)
c.2326G>T (p.Gly776Cys)
c.2241+193G>T (n.2241+193G>T)
c.2205+193G>T (n.2205+193G>T)
c.2356G>T (p.Gly786Cys)
c.2133+193G>T (n.2133+193G>T)
c.1680-6010G>T (n.1680-6010G>T)
c.2452G>T (p.Gly818Cys)
c.2518G>T (p.Gly840Cys)
c.2515G>T (p.Gly839Cys)
c.2488G>T (p.Gly830Cys)
c.2434G>T (p.Gly812Cys)
c.2407G>T (p.Gly803Cys)
c.2392G>T (p.Gly798Cys)
c.1999G>T (p.Gly667Cys)
c.2461G>T (p.Gly821Cys)
c.2398G>T (p.Gly800Cys)
c.2395G>T (p.Gly799Cys)
c.2353G>T (p.Gly785Cys)
c.1426G>T (p.Gly476Cys)
20g.63406853C=CA2374774272KCNQ2c.2464G= (p.Gly822=)
c.2410G= (p.Gly804=)
c.1807G= (p.Gly603=)
c.2317G= (p.Gly773=)
c.1978G= (p.Gly660=)
c.2326G= (p.Gly776=)
c.2241+193G= (n.2241+193G=)
c.2205+193G= (n.2205+193G=)
c.2356G= (p.Gly786=)
c.2133+193G= (n.2133+193G=)
c.1680-6010G= (n.1680-6010G=)
c.2452G= (p.Gly818=)
c.2518G= (p.Gly840=)
c.2515G= (p.Gly839=)
c.2488G= (p.Gly830=)
c.2434G= (p.Gly812=)
c.2407G= (p.Gly803=)
c.2392G= (p.Gly798=)
c.1999G= (p.Gly667=)
c.2461G= (p.Gly821=)
c.2398G= (p.Gly800=)
c.2395G= (p.Gly799=)
c.2353G= (p.Gly785=)
c.1426G= (p.Gly476=)
20g.63406853C>GCA409637214KCNQ2c.2464G>C (p.Gly822Arg)
c.2410G>C (p.Gly804Arg)
c.1807G>C (p.Gly603Arg)
c.2317G>C (p.Gly773Arg)
c.1978G>C (p.Gly660Arg)
c.2326G>C (p.Gly776Arg)
c.2241+193G>C (n.2241+193G>C)
c.2205+193G>C (n.2205+193G>C)
c.2356G>C (p.Gly786Arg)
c.2133+193G>C (n.2133+193G>C)
c.1680-6010G>C (n.1680-6010G>C)
c.2452G>C (p.Gly818Arg)
c.2518G>C (p.Gly840Arg)
c.2515G>C (p.Gly839Arg)
c.2488G>C (p.Gly830Arg)
c.2434G>C (p.Gly812Arg)
c.2407G>C (p.Gly803Arg)
c.2392G>C (p.Gly798Arg)
c.1999G>C (p.Gly667Arg)
c.2461G>C (p.Gly821Arg)
c.2398G>C (p.Gly800Arg)
c.2395G>C (p.Gly799Arg)
c.2353G>C (p.Gly785Arg)
c.1426G>C (p.Gly476Arg)
20g.63406853C>TCA409637216KCNQ2c.2464G>A (p.Gly822Ser)
c.2410G>A (p.Gly804Ser)
c.1807G>A (p.Gly603Ser)
c.2317G>A (p.Gly773Ser)
c.1978G>A (p.Gly660Ser)
c.2326G>A (p.Gly776Ser)
c.2241+193G>A (n.2241+193G>A)
c.2205+193G>A (n.2205+193G>A)
c.2356G>A (p.Gly786Ser)
c.2133+193G>A (n.2133+193G>A)
c.1680-6010G>A (n.1680-6010G>A)
c.2452G>A (p.Gly818Ser)
c.2518G>A (p.Gly840Ser)
c.2515G>A (p.Gly839Ser)
c.2488G>A (p.Gly830Ser)
c.2434G>A (p.Gly812Ser)
c.2407G>A (p.Gly803Ser)
c.2392G>A (p.Gly798Ser)
c.1999G>A (p.Gly667Ser)
c.2461G>A (p.Gly821Ser)
c.2398G>A (p.Gly800Ser)
c.2395G>A (p.Gly799Ser)
c.2353G>A (p.Gly785Ser)
c.1426G>A (p.Gly476Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
20g.63406854G>ACA9958079KCNQ2c.2463C>T (p.Ser821=)
c.2409C>T (p.Ser803=)
c.1806C>T (p.Ser602=)
c.2316C>T (p.Ser772=)
c.1977C>T (p.Ser659=)
c.2325C>T (p.Ser775=)
c.2241+192C>T (n.2241+192C>T)
c.2205+192C>T (n.2205+192C>T)
c.2355C>T (p.Ser785=)
c.2133+192C>T (n.2133+192C>T)
c.1680-6011C>T (n.1680-6011C>T)
c.2451C>T (p.Ser817=)
c.2517C>T (p.Ser839=)
c.2514C>T (p.Ser838=)
c.2487C>T (p.Ser829=)
c.2433C>T (p.Ser811=)
c.2406C>T (p.Ser802=)
c.2391C>T (p.Ser797=)
c.1998C>T (p.Ser666=)
c.2460C>T (p.Ser820=)
c.2397C>T (p.Ser799=)
c.2394C>T (p.Ser798=)
c.2352C>T (p.Ser784=)
c.1425C>T (p.Ser475=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406854G>CCA409637218KCNQ2c.2463C>G (p.Ser821Arg)
c.2409C>G (p.Ser803Arg)
c.1806C>G (p.Ser602Arg)
c.2316C>G (p.Ser772Arg)
c.1977C>G (p.Ser659Arg)
c.2325C>G (p.Ser775Arg)
c.2241+192C>G (n.2241+192C>G)
c.2205+192C>G (n.2205+192C>G)
c.2355C>G (p.Ser785Arg)
c.2133+192C>G (n.2133+192C>G)
c.1680-6011C>G (n.1680-6011C>G)
c.2451C>G (p.Ser817Arg)
c.2517C>G (p.Ser839Arg)
c.2514C>G (p.Ser838Arg)
c.2487C>G (p.Ser829Arg)
c.2433C>G (p.Ser811Arg)
c.2406C>G (p.Ser802Arg)
c.2391C>G (p.Ser797Arg)
c.1998C>G (p.Ser666Arg)
c.2460C>G (p.Ser820Arg)
c.2397C>G (p.Ser799Arg)
c.2394C>G (p.Ser798Arg)
c.2352C>G (p.Ser784Arg)
c.1425C>G (p.Ser475Arg)
20g.63406854G=CA2374774273KCNQ2c.2463C= (p.Ser821=)
c.2409C= (p.Ser803=)
c.1806C= (p.Ser602=)
c.2316C= (p.Ser772=)
c.1977C= (p.Ser659=)
c.2325C= (p.Ser775=)
c.2241+192C= (n.2241+192C=)
c.2205+192C= (n.2205+192C=)
c.2355C= (p.Ser785=)
c.2133+192C= (n.2133+192C=)
c.1680-6011C= (n.1680-6011C=)
c.2451C= (p.Ser817=)
c.2517C= (p.Ser839=)
c.2514C= (p.Ser838=)
c.2487C= (p.Ser829=)
c.2433C= (p.Ser811=)
c.2406C= (p.Ser802=)
c.2391C= (p.Ser797=)
c.1998C= (p.Ser666=)
c.2460C= (p.Ser820=)
c.2397C= (p.Ser799=)
c.2394C= (p.Ser798=)
c.2352C= (p.Ser784=)
c.1425C= (p.Ser475=)
20g.63406854G>TCA409637220KCNQ2c.2463C>A (p.Ser821Arg)
c.2409C>A (p.Ser803Arg)
c.1806C>A (p.Ser602Arg)
c.2316C>A (p.Ser772Arg)
c.1977C>A (p.Ser659Arg)
c.2325C>A (p.Ser775Arg)
c.2241+192C>A (n.2241+192C>A)
c.2205+192C>A (n.2205+192C>A)
c.2355C>A (p.Ser785Arg)
c.2133+192C>A (n.2133+192C>A)
c.1680-6011C>A (n.1680-6011C>A)
c.2451C>A (p.Ser817Arg)
c.2517C>A (p.Ser839Arg)
c.2514C>A (p.Ser838Arg)
c.2487C>A (p.Ser829Arg)
c.2433C>A (p.Ser811Arg)
c.2406C>A (p.Ser802Arg)
c.2391C>A (p.Ser797Arg)
c.1998C>A (p.Ser666Arg)
c.2460C>A (p.Ser820Arg)
c.2397C>A (p.Ser799Arg)
c.2394C>A (p.Ser798Arg)
c.2352C>A (p.Ser784Arg)
c.1425C>A (p.Ser475Arg)
 COSMIC COSMIC
20g.63406855C>ACA409637223KCNQ2c.2462G>T (p.Ser821Ile)
c.2408G>T (p.Ser803Ile)
c.1805G>T (p.Ser602Ile)
c.2315G>T (p.Ser772Ile)
c.1976G>T (p.Ser659Ile)
c.2324G>T (p.Ser775Ile)
c.2241+191G>T (n.2241+191G>T)
c.2205+191G>T (n.2205+191G>T)
c.2354G>T (p.Ser785Ile)
c.2133+191G>T (n.2133+191G>T)
c.1680-6012G>T (n.1680-6012G>T)
c.2450G>T (p.Ser817Ile)
c.2516G>T (p.Ser839Ile)
c.2513G>T (p.Ser838Ile)
c.2486G>T (p.Ser829Ile)
c.2432G>T (p.Ser811Ile)
c.2405G>T (p.Ser802Ile)
c.2390G>T (p.Ser797Ile)
c.1997G>T (p.Ser666Ile)
c.2459G>T (p.Ser820Ile)
c.2396G>T (p.Ser799Ile)
c.2393G>T (p.Ser798Ile)
c.2351G>T (p.Ser784Ile)
c.1424G>T (p.Ser475Ile)
20g.63406855C>GCA409637224KCNQ2c.2462G>C (p.Ser821Thr)
c.2408G>C (p.Ser803Thr)
c.1805G>C (p.Ser602Thr)
c.2315G>C (p.Ser772Thr)
c.1976G>C (p.Ser659Thr)
c.2324G>C (p.Ser775Thr)
c.2241+191G>C (n.2241+191G>C)
c.2205+191G>C (n.2205+191G>C)
c.2354G>C (p.Ser785Thr)
c.2133+191G>C (n.2133+191G>C)
c.1680-6012G>C (n.1680-6012G>C)
c.2450G>C (p.Ser817Thr)
c.2516G>C (p.Ser839Thr)
c.2513G>C (p.Ser838Thr)
c.2486G>C (p.Ser829Thr)
c.2432G>C (p.Ser811Thr)
c.2405G>C (p.Ser802Thr)
c.2390G>C (p.Ser797Thr)
c.1997G>C (p.Ser666Thr)
c.2459G>C (p.Ser820Thr)
c.2396G>C (p.Ser799Thr)
c.2393G>C (p.Ser798Thr)
c.2351G>C (p.Ser784Thr)
c.1424G>C (p.Ser475Thr)
20g.63406855C>TCA409637226KCNQ2c.2462G>A (p.Ser821Asn)
c.2408G>A (p.Ser803Asn)
c.1805G>A (p.Ser602Asn)
c.2315G>A (p.Ser772Asn)
c.1976G>A (p.Ser659Asn)
c.2324G>A (p.Ser775Asn)
c.2241+191G>A (n.2241+191G>A)
c.2205+191G>A (n.2205+191G>A)
c.2354G>A (p.Ser785Asn)
c.2133+191G>A (n.2133+191G>A)
c.1680-6012G>A (n.1680-6012G>A)
c.2450G>A (p.Ser817Asn)
c.2516G>A (p.Ser839Asn)
c.2513G>A (p.Ser838Asn)
c.2486G>A (p.Ser829Asn)
c.2432G>A (p.Ser811Asn)
c.2405G>A (p.Ser802Asn)
c.2390G>A (p.Ser797Asn)
c.1997G>A (p.Ser666Asn)
c.2459G>A (p.Ser820Asn)
c.2396G>A (p.Ser799Asn)
c.2393G>A (p.Ser798Asn)
c.2351G>A (p.Ser784Asn)
c.1424G>A (p.Ser475Asn)
 dbSNP
20g.63406856T>ACA409637229KCNQ2c.2461A>T (p.Ser821Cys)
c.2407A>T (p.Ser803Cys)
c.1804A>T (p.Ser602Cys)
c.2314A>T (p.Ser772Cys)
c.1975A>T (p.Ser659Cys)
c.2323A>T (p.Ser775Cys)
c.2241+190A>T (n.2241+190A>T)
c.2205+190A>T (n.2205+190A>T)
c.2353A>T (p.Ser785Cys)
c.2133+190A>T (n.2133+190A>T)
c.1680-6013A>T (n.1680-6013A>T)
c.2449A>T (p.Ser817Cys)
c.2515A>T (p.Ser839Cys)
c.2512A>T (p.Ser838Cys)
c.2485A>T (p.Ser829Cys)
c.2431A>T (p.Ser811Cys)
c.2404A>T (p.Ser802Cys)
c.2389A>T (p.Ser797Cys)
c.1996A>T (p.Ser666Cys)
c.2458A>T (p.Ser820Cys)
c.2395A>T (p.Ser799Cys)
c.2392A>T (p.Ser798Cys)
c.2350A>T (p.Ser784Cys)
c.1423A>T (p.Ser475Cys)
20g.63406856T>CCA409637230KCNQ2c.2461A>G (p.Ser821Gly)
c.2407A>G (p.Ser803Gly)
c.1804A>G (p.Ser602Gly)
c.2314A>G (p.Ser772Gly)
c.1975A>G (p.Ser659Gly)
c.2323A>G (p.Ser775Gly)
c.2241+190A>G (n.2241+190A>G)
c.2205+190A>G (n.2205+190A>G)
c.2353A>G (p.Ser785Gly)
c.2133+190A>G (n.2133+190A>G)
c.1680-6013A>G (n.1680-6013A>G)
c.2449A>G (p.Ser817Gly)
c.2515A>G (p.Ser839Gly)
c.2512A>G (p.Ser838Gly)
c.2485A>G (p.Ser829Gly)
c.2431A>G (p.Ser811Gly)
c.2404A>G (p.Ser802Gly)
c.2389A>G (p.Ser797Gly)
c.1996A>G (p.Ser666Gly)
c.2458A>G (p.Ser820Gly)
c.2395A>G (p.Ser799Gly)
c.2392A>G (p.Ser798Gly)
c.2350A>G (p.Ser784Gly)
c.1423A>G (p.Ser475Gly)
20g.63406856T>GCA409637232KCNQ2c.2461A>C (p.Ser821Arg)
c.2407A>C (p.Ser803Arg)
c.1804A>C (p.Ser602Arg)
c.2314A>C (p.Ser772Arg)
c.1975A>C (p.Ser659Arg)
c.2323A>C (p.Ser775Arg)
c.2241+190A>C (n.2241+190A>C)
c.2205+190A>C (n.2205+190A>C)
c.2353A>C (p.Ser785Arg)
c.2133+190A>C (n.2133+190A>C)
c.1680-6013A>C (n.1680-6013A>C)
c.2449A>C (p.Ser817Arg)
c.2515A>C (p.Ser839Arg)
c.2512A>C (p.Ser838Arg)
c.2485A>C (p.Ser829Arg)
c.2431A>C (p.Ser811Arg)
c.2404A>C (p.Ser802Arg)
c.2389A>C (p.Ser797Arg)
c.1996A>C (p.Ser666Arg)
c.2458A>C (p.Ser820Arg)
c.2395A>C (p.Ser799Arg)
c.2392A>C (p.Ser798Arg)
c.2350A>C (p.Ser784Arg)
c.1423A>C (p.Ser475Arg)
20g.63406857G>ACA511339417KCNQ2c.2460C>T (p.Phe820=)
c.2406C>T (p.Phe802=)
c.1803C>T (p.Phe601=)
c.2313C>T (p.Phe771=)
c.1974C>T (p.Phe658=)
c.2322C>T (p.Phe774=)
c.2241+189C>T (n.2241+189C>T)
c.2205+189C>T (n.2205+189C>T)
c.2352C>T (p.Phe784=)
c.2133+189C>T (n.2133+189C>T)
c.1680-6014C>T (n.1680-6014C>T)
c.2448C>T (p.Phe816=)
c.2514C>T (p.Phe838=)
c.2511C>T (p.Phe837=)
c.2484C>T (p.Phe828=)
c.2430C>T (p.Phe810=)
c.2403C>T (p.Phe801=)
c.2388C>T (p.Phe796=)
c.1995C>T (p.Phe665=)
c.2457C>T (p.Phe819=)
c.2394C>T (p.Phe798=)
c.2391C>T (p.Phe797=)
c.2349C>T (p.Phe783=)
c.1422C>T (p.Phe474=)
 dbSNP COSMIC COSMIC COSMIC
20g.63406857G>CCA409637235KCNQ2c.2460C>G (p.Phe820Leu)
c.2406C>G (p.Phe802Leu)
c.1803C>G (p.Phe601Leu)
c.2313C>G (p.Phe771Leu)
c.1974C>G (p.Phe658Leu)
c.2322C>G (p.Phe774Leu)
c.2241+189C>G (n.2241+189C>G)
c.2205+189C>G (n.2205+189C>G)
c.2352C>G (p.Phe784Leu)
c.2133+189C>G (n.2133+189C>G)
c.1680-6014C>G (n.1680-6014C>G)
c.2448C>G (p.Phe816Leu)
c.2514C>G (p.Phe838Leu)
c.2511C>G (p.Phe837Leu)
c.2484C>G (p.Phe828Leu)
c.2430C>G (p.Phe810Leu)
c.2403C>G (p.Phe801Leu)
c.2388C>G (p.Phe796Leu)
c.1995C>G (p.Phe665Leu)
c.2457C>G (p.Phe819Leu)
c.2394C>G (p.Phe798Leu)
c.2391C>G (p.Phe797Leu)
c.2349C>G (p.Phe783Leu)
c.1422C>G (p.Phe474Leu)
20g.63406857G=CA2374774274KCNQ2c.2460C= (p.Phe820=)
c.2406C= (p.Phe802=)
c.1803C= (p.Phe601=)
c.2313C= (p.Phe771=)
c.1974C= (p.Phe658=)
c.2322C= (p.Phe774=)
c.2241+189C= (n.2241+189C=)
c.2205+189C= (n.2205+189C=)
c.2352C= (p.Phe784=)
c.2133+189C= (n.2133+189C=)
c.1680-6014C= (n.1680-6014C=)
c.2448C= (p.Phe816=)
c.2514C= (p.Phe838=)
c.2511C= (p.Phe837=)
c.2484C= (p.Phe828=)
c.2430C= (p.Phe810=)
c.2403C= (p.Phe801=)
c.2388C= (p.Phe796=)
c.1995C= (p.Phe665=)
c.2457C= (p.Phe819=)
c.2394C= (p.Phe798=)
c.2391C= (p.Phe797=)
c.2349C= (p.Phe783=)
c.1422C= (p.Phe474=)
20g.63406857G>TCA409637234KCNQ2c.2460C>A (p.Phe820Leu)
c.2406C>A (p.Phe802Leu)
c.1803C>A (p.Phe601Leu)
c.2313C>A (p.Phe771Leu)
c.1974C>A (p.Phe658Leu)
c.2322C>A (p.Phe774Leu)
c.2241+189C>A (n.2241+189C>A)
c.2205+189C>A (n.2205+189C>A)
c.2352C>A (p.Phe784Leu)
c.2133+189C>A (n.2133+189C>A)
c.1680-6014C>A (n.1680-6014C>A)
c.2448C>A (p.Phe816Leu)
c.2514C>A (p.Phe838Leu)
c.2511C>A (p.Phe837Leu)
c.2484C>A (p.Phe828Leu)
c.2430C>A (p.Phe810Leu)
c.2403C>A (p.Phe801Leu)
c.2388C>A (p.Phe796Leu)
c.1995C>A (p.Phe665Leu)
c.2457C>A (p.Phe819Leu)
c.2394C>A (p.Phe798Leu)
c.2391C>A (p.Phe797Leu)
c.2349C>A (p.Phe783Leu)
c.1422C>A (p.Phe474Leu)
20g.63406858A>CCA409637238KCNQ2c.2459T>G (p.Phe820Cys)
c.2405T>G (p.Phe802Cys)
c.1802T>G (p.Phe601Cys)
c.2312T>G (p.Phe771Cys)
c.1973T>G (p.Phe658Cys)
c.2321T>G (p.Phe774Cys)
c.2241+188T>G (n.2241+188T>G)
c.2205+188T>G (n.2205+188T>G)
c.2351T>G (p.Phe784Cys)
c.2133+188T>G (n.2133+188T>G)
c.1680-6015T>G (n.1680-6015T>G)
c.2447T>G (p.Phe816Cys)
c.2513T>G (p.Phe838Cys)
c.2510T>G (p.Phe837Cys)
c.2483T>G (p.Phe828Cys)
c.2429T>G (p.Phe810Cys)
c.2402T>G (p.Phe801Cys)
c.2387T>G (p.Phe796Cys)
c.1994T>G (p.Phe665Cys)
c.2456T>G (p.Phe819Cys)
c.2393T>G (p.Phe798Cys)
c.2390T>G (p.Phe797Cys)
c.2348T>G (p.Phe783Cys)
c.1421T>G (p.Phe474Cys)
20g.63406858A>GCA409637242KCNQ2c.2459T>C (p.Phe820Ser)
c.2405T>C (p.Phe802Ser)
c.1802T>C (p.Phe601Ser)
c.2312T>C (p.Phe771Ser)
c.1973T>C (p.Phe658Ser)
c.2321T>C (p.Phe774Ser)
c.2241+188T>C (n.2241+188T>C)
c.2205+188T>C (n.2205+188T>C)
c.2351T>C (p.Phe784Ser)
c.2133+188T>C (n.2133+188T>C)
c.1680-6015T>C (n.1680-6015T>C)
c.2447T>C (p.Phe816Ser)
c.2513T>C (p.Phe838Ser)
c.2510T>C (p.Phe837Ser)
c.2483T>C (p.Phe828Ser)
c.2429T>C (p.Phe810Ser)
c.2402T>C (p.Phe801Ser)
c.2387T>C (p.Phe796Ser)
c.1994T>C (p.Phe665Ser)
c.2456T>C (p.Phe819Ser)
c.2393T>C (p.Phe798Ser)
c.2390T>C (p.Phe797Ser)
c.2348T>C (p.Phe783Ser)
c.1421T>C (p.Phe474Ser)
20g.63406858A>TCA409637240KCNQ2c.2459T>A (p.Phe820Tyr)
c.2405T>A (p.Phe802Tyr)
c.1802T>A (p.Phe601Tyr)
c.2312T>A (p.Phe771Tyr)
c.1973T>A (p.Phe658Tyr)
c.2321T>A (p.Phe774Tyr)
c.2241+188T>A (n.2241+188T>A)
c.2205+188T>A (n.2205+188T>A)
c.2351T>A (p.Phe784Tyr)
c.2133+188T>A (n.2133+188T>A)
c.1680-6015T>A (n.1680-6015T>A)
c.2447T>A (p.Phe816Tyr)
c.2513T>A (p.Phe838Tyr)
c.2510T>A (p.Phe837Tyr)
c.2483T>A (p.Phe828Tyr)
c.2429T>A (p.Phe810Tyr)
c.2402T>A (p.Phe801Tyr)
c.2387T>A (p.Phe796Tyr)
c.1994T>A (p.Phe665Tyr)
c.2456T>A (p.Phe819Tyr)
c.2393T>A (p.Phe798Tyr)
c.2390T>A (p.Phe797Tyr)
c.2348T>A (p.Phe783Tyr)
c.1421T>A (p.Phe474Tyr)
20g.63406859A=CA2374774275KCNQ2c.2458T= (p.Phe820=)
c.2404T= (p.Phe802=)
c.1801T= (p.Phe601=)
c.2311T= (p.Phe771=)
c.1972T= (p.Phe658=)
c.2320T= (p.Phe774=)
c.2241+187T= (n.2241+187T=)
c.2205+187T= (n.2205+187T=)
c.2350T= (p.Phe784=)
c.2133+187T= (n.2133+187T=)
c.1680-6016T= (n.1680-6016T=)
c.2446T= (p.Phe816=)
c.2512T= (p.Phe838=)
c.2509T= (p.Phe837=)
c.2482T= (p.Phe828=)
c.2428T= (p.Phe810=)
c.2401T= (p.Phe801=)
c.2386T= (p.Phe796=)
c.1993T= (p.Phe665=)
c.2455T= (p.Phe819=)
c.2392T= (p.Phe798=)
c.2389T= (p.Phe797=)
c.2347T= (p.Phe783=)
c.1420T= (p.Phe474=)
20g.63406859A>CCA409637245KCNQ2c.2458T>G (p.Phe820Val)
c.2404T>G (p.Phe802Val)
c.1801T>G (p.Phe601Val)
c.2311T>G (p.Phe771Val)
c.1972T>G (p.Phe658Val)
c.2320T>G (p.Phe774Val)
c.2241+187T>G (n.2241+187T>G)
c.2205+187T>G (n.2205+187T>G)
c.2350T>G (p.Phe784Val)
c.2133+187T>G (n.2133+187T>G)
c.1680-6016T>G (n.1680-6016T>G)
c.2446T>G (p.Phe816Val)
c.2512T>G (p.Phe838Val)
c.2509T>G (p.Phe837Val)
c.2482T>G (p.Phe828Val)
c.2428T>G (p.Phe810Val)
c.2401T>G (p.Phe801Val)
c.2386T>G (p.Phe796Val)
c.1993T>G (p.Phe665Val)
c.2455T>G (p.Phe819Val)
c.2392T>G (p.Phe798Val)
c.2389T>G (p.Phe797Val)
c.2347T>G (p.Phe783Val)
c.1420T>G (p.Phe474Val)
 dbSNP gnomAD v4
20g.63406859A>GCA315525KCNQ2c.2458T>C (p.Phe820Leu)
c.2404T>C (p.Phe802Leu)
c.1801T>C (p.Phe601Leu)
c.2311T>C (p.Phe771Leu)
c.1972T>C (p.Phe658Leu)
c.2320T>C (p.Phe774Leu)
c.2241+187T>C (n.2241+187T>C)
c.2205+187T>C (n.2205+187T>C)
c.2350T>C (p.Phe784Leu)
c.2133+187T>C (n.2133+187T>C)
c.1680-6016T>C (n.1680-6016T>C)
c.2446T>C (p.Phe816Leu)
c.2512T>C (p.Phe838Leu)
c.2509T>C (p.Phe837Leu)
c.2482T>C (p.Phe828Leu)
c.2428T>C (p.Phe810Leu)
c.2401T>C (p.Phe801Leu)
c.2386T>C (p.Phe796Leu)
c.1993T>C (p.Phe665Leu)
c.2455T>C (p.Phe819Leu)
c.2392T>C (p.Phe798Leu)
c.2389T>C (p.Phe797Leu)
c.2347T>C (p.Phe783Leu)
c.1420T>C (p.Phe474Leu)
 ClinVar dbSNP
20g.63406859A>TCA409637248KCNQ2c.2458T>A (p.Phe820Ile)
c.2404T>A (p.Phe802Ile)
c.1801T>A (p.Phe601Ile)
c.2311T>A (p.Phe771Ile)
c.1972T>A (p.Phe658Ile)
c.2320T>A (p.Phe774Ile)
c.2241+187T>A (n.2241+187T>A)
c.2205+187T>A (n.2205+187T>A)
c.2350T>A (p.Phe784Ile)
c.2133+187T>A (n.2133+187T>A)
c.1680-6016T>A (n.1680-6016T>A)
c.2446T>A (p.Phe816Ile)
c.2512T>A (p.Phe838Ile)
c.2509T>A (p.Phe837Ile)
c.2482T>A (p.Phe828Ile)
c.2428T>A (p.Phe810Ile)
c.2401T>A (p.Phe801Ile)
c.2386T>A (p.Phe796Ile)
c.1993T>A (p.Phe665Ile)
c.2455T>A (p.Phe819Ile)
c.2392T>A (p.Phe798Ile)
c.2389T>A (p.Phe797Ile)
c.2347T>A (p.Phe783Ile)
c.1420T>A (p.Phe474Ile)
20g.63406860G>ACA511339420KCNQ2c.2457C>T (p.Ser819=)
c.2403C>T (p.Ser801=)
c.1800C>T (p.Ser600=)
c.2310C>T (p.Ser770=)
c.1971C>T (p.Ser657=)
c.2319C>T (p.Ser773=)
c.2241+186C>T (n.2241+186C>T)
c.2205+186C>T (n.2205+186C>T)
c.2349C>T (p.Ser783=)
c.2133+186C>T (n.2133+186C>T)
c.1680-6017C>T (n.1680-6017C>T)
c.2445C>T (p.Ser815=)
c.2511C>T (p.Ser837=)
c.2508C>T (p.Ser836=)
c.2481C>T (p.Ser827=)
c.2427C>T (p.Ser809=)
c.2400C>T (p.Ser800=)
c.2385C>T (p.Ser795=)
c.1992C>T (p.Ser664=)
c.2454C>T (p.Ser818=)
c.2391C>T (p.Ser797=)
c.2388C>T (p.Ser796=)
c.2346C>T (p.Ser782=)
c.1419C>T (p.Ser473=)
20g.63406860G>CCA511339421KCNQ2c.2457C>G (p.Ser819=)
c.2403C>G (p.Ser801=)
c.1800C>G (p.Ser600=)
c.2310C>G (p.Ser770=)
c.1971C>G (p.Ser657=)
c.2319C>G (p.Ser773=)
c.2241+186C>G (n.2241+186C>G)
c.2205+186C>G (n.2205+186C>G)
c.2349C>G (p.Ser783=)
c.2133+186C>G (n.2133+186C>G)
c.1680-6017C>G (n.1680-6017C>G)
c.2445C>G (p.Ser815=)
c.2511C>G (p.Ser837=)
c.2508C>G (p.Ser836=)
c.2481C>G (p.Ser827=)
c.2427C>G (p.Ser809=)
c.2400C>G (p.Ser800=)
c.2385C>G (p.Ser795=)
c.1992C>G (p.Ser664=)
c.2454C>G (p.Ser818=)
c.2391C>G (p.Ser797=)
c.2388C>G (p.Ser796=)
c.2346C>G (p.Ser782=)
c.1419C>G (p.Ser473=)
 ClinVar
20g.63406860G>TCA511339422KCNQ2c.2457C>A (p.Ser819=)
c.2403C>A (p.Ser801=)
c.1800C>A (p.Ser600=)
c.2310C>A (p.Ser770=)
c.1971C>A (p.Ser657=)
c.2319C>A (p.Ser773=)
c.2241+186C>A (n.2241+186C>A)
c.2205+186C>A (n.2205+186C>A)
c.2349C>A (p.Ser783=)
c.2133+186C>A (n.2133+186C>A)
c.1680-6017C>A (n.1680-6017C>A)
c.2445C>A (p.Ser815=)
c.2511C>A (p.Ser837=)
c.2508C>A (p.Ser836=)
c.2481C>A (p.Ser827=)
c.2427C>A (p.Ser809=)
c.2400C>A (p.Ser800=)
c.2385C>A (p.Ser795=)
c.1992C>A (p.Ser664=)
c.2454C>A (p.Ser818=)
c.2391C>A (p.Ser797=)
c.2388C>A (p.Ser796=)
c.2346C>A (p.Ser782=)
c.1419C>A (p.Ser473=)
20g.63406861delCA2499225799KCNQ2c.2457del (p.Phe820SerfsTer?)
c.2403del (p.Phe802SerfsTer?)
c.1800del (p.Phe601SerfsTer?)
c.2310del (p.Phe771SerfsTer?)
c.1971del (p.Phe658SerfsTer?)
c.2319del (p.Phe774SerfsTer?)
c.2241+186del (n.2241+186del)
c.2205+186del (n.2205+186del)
c.2349del (p.Phe784SerfsTer?)
c.2133+186del (n.2133+186del)
c.1680-6017del (n.1680-6017del)
c.2445del (p.Phe816SerfsTer?)
c.2511del (p.Phe838SerfsTer?)
c.2508del (p.Phe837SerfsTer?)
c.2481del (p.Phe828SerfsTer?)
c.2427del (p.Phe810SerfsTer?)
c.2400del (p.Phe801SerfsTer?)
c.2385del (p.Phe796SerfsTer?)
c.1992del (p.Phe665SerfsTer?)
c.2454del (p.Phe819SerfsTer?)
c.2391del (p.Phe798SerfsTer?)
c.2388del (p.Phe797SerfsTer?)
c.2346del (p.Phe783SerfsTer?)
c.1419del (p.Phe474SerfsTer?)
 ClinVar dbSNP
20g.63406861G>ACA409637250KCNQ2c.2456C>T (p.Ser819Phe)
c.2402C>T (p.Ser801Phe)
c.1799C>T (p.Ser600Phe)
c.2309C>T (p.Ser770Phe)
c.1970C>T (p.Ser657Phe)
c.2318C>T (p.Ser773Phe)
c.2241+185C>T (n.2241+185C>T)
c.2205+185C>T (n.2205+185C>T)
c.2348C>T (p.Ser783Phe)
c.2133+185C>T (n.2133+185C>T)
c.1680-6018C>T (n.1680-6018C>T)
c.2444C>T (p.Ser815Phe)
c.2510C>T (p.Ser837Phe)
c.2507C>T (p.Ser836Phe)
c.2480C>T (p.Ser827Phe)
c.2426C>T (p.Ser809Phe)
c.2399C>T (p.Ser800Phe)
c.2384C>T (p.Ser795Phe)
c.1991C>T (p.Ser664Phe)
c.2453C>T (p.Ser818Phe)
c.2390C>T (p.Ser797Phe)
c.2387C>T (p.Ser796Phe)
c.2345C>T (p.Ser782Phe)
c.1418C>T (p.Ser473Phe)
20g.63406861G>CCA409637252KCNQ2c.2456C>G (p.Ser819Cys)
c.2402C>G (p.Ser801Cys)
c.1799C>G (p.Ser600Cys)
c.2309C>G (p.Ser770Cys)
c.1970C>G (p.Ser657Cys)
c.2318C>G (p.Ser773Cys)
c.2241+185C>G (n.2241+185C>G)
c.2205+185C>G (n.2205+185C>G)
c.2348C>G (p.Ser783Cys)
c.2133+185C>G (n.2133+185C>G)
c.1680-6018C>G (n.1680-6018C>G)
c.2444C>G (p.Ser815Cys)
c.2510C>G (p.Ser837Cys)
c.2507C>G (p.Ser836Cys)
c.2480C>G (p.Ser827Cys)
c.2426C>G (p.Ser809Cys)
c.2399C>G (p.Ser800Cys)
c.2384C>G (p.Ser795Cys)
c.1991C>G (p.Ser664Cys)
c.2453C>G (p.Ser818Cys)
c.2390C>G (p.Ser797Cys)
c.2387C>G (p.Ser796Cys)
c.2345C>G (p.Ser782Cys)
c.1418C>G (p.Ser473Cys)
20g.63406861G>TCA409637254KCNQ2c.2456C>A (p.Ser819Tyr)
c.2402C>A (p.Ser801Tyr)
c.1799C>A (p.Ser600Tyr)
c.2309C>A (p.Ser770Tyr)
c.1970C>A (p.Ser657Tyr)
c.2318C>A (p.Ser773Tyr)
c.2241+185C>A (n.2241+185C>A)
c.2205+185C>A (n.2205+185C>A)
c.2348C>A (p.Ser783Tyr)
c.2133+185C>A (n.2133+185C>A)
c.1680-6018C>A (n.1680-6018C>A)
c.2444C>A (p.Ser815Tyr)
c.2510C>A (p.Ser837Tyr)
c.2507C>A (p.Ser836Tyr)
c.2480C>A (p.Ser827Tyr)
c.2426C>A (p.Ser809Tyr)
c.2399C>A (p.Ser800Tyr)
c.2384C>A (p.Ser795Tyr)
c.1991C>A (p.Ser664Tyr)
c.2453C>A (p.Ser818Tyr)
c.2390C>A (p.Ser797Tyr)
c.2387C>A (p.Ser796Tyr)
c.2345C>A (p.Ser782Tyr)
c.1418C>A (p.Ser473Tyr)
20g.63406861_63406862delinsGACA2374774276KCNQ2c.2455_2456delinsTC (p.Ser819=)
c.2401_2402delinsTC (p.Ser801=)
c.1798_1799delinsTC (p.Ser600=)
c.2308_2309delinsTC (p.Ser770=)
c.1969_1970delinsTC (p.Ser657=)
c.2317_2318delinsTC (p.Ser773=)
c.2241+184_2241+185delinsTC (n.2241+184_2241+185delinsTC)
c.2205+184_2205+185delinsTC (n.2205+184_2205+185delinsTC)
c.2347_2348delinsTC (p.Ser783=)
c.2133+184_2133+185delinsTC (n.2133+184_2133+185delinsTC)
c.1680-6019_1680-6018delinsTC (n.1680-6019_1680-6018delinsTC)
c.2443_2444delinsTC (p.Ser815=)
c.2509_2510delinsTC (p.Ser837=)
c.2506_2507delinsTC (p.Ser836=)
c.2479_2480delinsTC (p.Ser827=)
c.2425_2426delinsTC (p.Ser809=)
c.2398_2399delinsTC (p.Ser800=)
c.2383_2384delinsTC (p.Ser795=)
c.1990_1991delinsTC (p.Ser664=)
c.2452_2453delinsTC (p.Ser818=)
c.2389_2390delinsTC (p.Ser797=)
c.2386_2387delinsTC (p.Ser796=)
c.2344_2345delinsTC (p.Ser782=)
c.1417_1418delinsTC (p.Ser473=)
20g.63406862A>CCA409637256KCNQ2c.2455T>G (p.Ser819Ala)
c.2401T>G (p.Ser801Ala)
c.1798T>G (p.Ser600Ala)
c.2308T>G (p.Ser770Ala)
c.1969T>G (p.Ser657Ala)
c.2317T>G (p.Ser773Ala)
c.2241+184T>G (n.2241+184T>G)
c.2205+184T>G (n.2205+184T>G)
c.2347T>G (p.Ser783Ala)
c.2133+184T>G (n.2133+184T>G)
c.1680-6019T>G (n.1680-6019T>G)
c.2443T>G (p.Ser815Ala)
c.2509T>G (p.Ser837Ala)
c.2506T>G (p.Ser836Ala)
c.2479T>G (p.Ser827Ala)
c.2425T>G (p.Ser809Ala)
c.2398T>G (p.Ser800Ala)
c.2383T>G (p.Ser795Ala)
c.1990T>G (p.Ser664Ala)
c.2452T>G (p.Ser818Ala)
c.2389T>G (p.Ser797Ala)
c.2386T>G (p.Ser796Ala)
c.2344T>G (p.Ser782Ala)
c.1417T>G (p.Ser473Ala)
20g.63406862A>GCA409637258KCNQ2c.2455T>C (p.Ser819Pro)
c.2401T>C (p.Ser801Pro)
c.1798T>C (p.Ser600Pro)
c.2308T>C (p.Ser770Pro)
c.1969T>C (p.Ser657Pro)
c.2317T>C (p.Ser773Pro)
c.2241+184T>C (n.2241+184T>C)
c.2205+184T>C (n.2205+184T>C)
c.2347T>C (p.Ser783Pro)
c.2133+184T>C (n.2133+184T>C)
c.1680-6019T>C (n.1680-6019T>C)
c.2443T>C (p.Ser815Pro)
c.2509T>C (p.Ser837Pro)
c.2506T>C (p.Ser836Pro)
c.2479T>C (p.Ser827Pro)
c.2425T>C (p.Ser809Pro)
c.2398T>C (p.Ser800Pro)
c.2383T>C (p.Ser795Pro)
c.1990T>C (p.Ser664Pro)
c.2452T>C (p.Ser818Pro)
c.2389T>C (p.Ser797Pro)
c.2386T>C (p.Ser796Pro)
c.2344T>C (p.Ser782Pro)
c.1417T>C (p.Ser473Pro)
20g.63406862A>TCA409637260KCNQ2c.2455T>A (p.Ser819Thr)
c.2401T>A (p.Ser801Thr)
c.1798T>A (p.Ser600Thr)
c.2308T>A (p.Ser770Thr)
c.1969T>A (p.Ser657Thr)
c.2317T>A (p.Ser773Thr)
c.2241+184T>A (n.2241+184T>A)
c.2205+184T>A (n.2205+184T>A)
c.2347T>A (p.Ser783Thr)
c.2133+184T>A (n.2133+184T>A)
c.1680-6019T>A (n.1680-6019T>A)
c.2443T>A (p.Ser815Thr)
c.2509T>A (p.Ser837Thr)
c.2506T>A (p.Ser836Thr)
c.2479T>A (p.Ser827Thr)
c.2425T>A (p.Ser809Thr)
c.2398T>A (p.Ser800Thr)
c.2383T>A (p.Ser795Thr)
c.1990T>A (p.Ser664Thr)
c.2452T>A (p.Ser818Thr)
c.2389T>A (p.Ser797Thr)
c.2386T>A (p.Ser796Thr)
c.2344T>A (p.Ser782Thr)
c.1417T>A (p.Ser473Thr)
20g.63406863delCA16620960KCNQ2c.2455del (p.Ser819ProfsTer?)
c.2401del (p.Ser801ProfsTer?)
c.1798del (p.Ser600ProfsTer?)
c.2308del (p.Ser770ProfsTer?)
c.1969del (p.Ser657ProfsTer?)
c.2317del (p.Ser773ProfsTer?)
c.2241+184del (n.2241+184del)
c.2205+184del (n.2205+184del)
c.2347del (p.Ser783ProfsTer?)
c.2133+184del (n.2133+184del)
c.1680-6019del (n.1680-6019del)
c.2443del (p.Ser815ProfsTer?)
c.2509del (p.Ser837ProfsTer?)
c.2506del (p.Ser836ProfsTer?)
c.2479del (p.Ser827ProfsTer?)
c.2425del (p.Ser809ProfsTer?)
c.2398del (p.Ser800ProfsTer?)
c.2383del (p.Ser795ProfsTer?)
c.1990del (p.Ser664ProfsTer?)
c.2452del (p.Ser818ProfsTer?)
c.2389del (p.Ser797ProfsTer?)
c.2386del (p.Ser796ProfsTer?)
c.2344del (p.Ser782ProfsTer?)
c.1417del (p.Ser473ProfsTer?)
 ClinVar dbSNP
20g.63406863A=CA2374774277KCNQ2c.2454T= (p.Arg818=)
c.2400T= (p.Arg800=)
c.1797T= (p.Arg599=)
c.2307T= (p.Arg769=)
c.1968T= (p.Arg656=)
c.2316T= (p.Arg772=)
c.2241+183T= (n.2241+183T=)
c.2205+183T= (n.2205+183T=)
c.2346T= (p.Arg782=)
c.2133+183T= (n.2133+183T=)
c.1680-6020T= (n.1680-6020T=)
c.2442T= (p.Arg814=)
c.2508T= (p.Arg836=)
c.2505T= (p.Arg835=)
c.2478T= (p.Arg826=)
c.2424T= (p.Arg808=)
c.2397T= (p.Arg799=)
c.2382T= (p.Arg794=)
c.1989T= (p.Arg663=)
c.2451T= (p.Arg817=)
c.2388T= (p.Arg796=)
c.2385T= (p.Arg795=)
c.2343T= (p.Arg781=)
c.1416T= (p.Arg472=)
20g.63406863A>CCA511339424KCNQ2c.2454T>G (p.Arg818=)
c.2400T>G (p.Arg800=)
c.1797T>G (p.Arg599=)
c.2307T>G (p.Arg769=)
c.1968T>G (p.Arg656=)
c.2316T>G (p.Arg772=)
c.2241+183T>G (n.2241+183T>G)
c.2205+183T>G (n.2205+183T>G)
c.2346T>G (p.Arg782=)
c.2133+183T>G (n.2133+183T>G)
c.1680-6020T>G (n.1680-6020T>G)
c.2442T>G (p.Arg814=)
c.2508T>G (p.Arg836=)
c.2505T>G (p.Arg835=)
c.2478T>G (p.Arg826=)
c.2424T>G (p.Arg808=)
c.2397T>G (p.Arg799=)
c.2382T>G (p.Arg794=)
c.1989T>G (p.Arg663=)
c.2451T>G (p.Arg817=)
c.2388T>G (p.Arg796=)
c.2385T>G (p.Arg795=)
c.2343T>G (p.Arg781=)
c.1416T>G (p.Arg472=)
20g.63406863A>GCA511339426KCNQ2c.2454T>C (p.Arg818=)
c.2400T>C (p.Arg800=)
c.1797T>C (p.Arg599=)
c.2307T>C (p.Arg769=)
c.1968T>C (p.Arg656=)
c.2316T>C (p.Arg772=)
c.2241+183T>C (n.2241+183T>C)
c.2205+183T>C (n.2205+183T>C)
c.2346T>C (p.Arg782=)
c.2133+183T>C (n.2133+183T>C)
c.1680-6020T>C (n.1680-6020T>C)
c.2442T>C (p.Arg814=)
c.2508T>C (p.Arg836=)
c.2505T>C (p.Arg835=)
c.2478T>C (p.Arg826=)
c.2424T>C (p.Arg808=)
c.2397T>C (p.Arg799=)
c.2382T>C (p.Arg794=)
c.1989T>C (p.Arg663=)
c.2451T>C (p.Arg817=)
c.2388T>C (p.Arg796=)
c.2385T>C (p.Arg795=)
c.2343T>C (p.Arg781=)
c.1416T>C (p.Arg472=)
 ClinVar dbSNP gnomAD v4
20g.63406863A>TCA511339425KCNQ2c.2454T>A (p.Arg818=)
c.2400T>A (p.Arg800=)
c.1797T>A (p.Arg599=)
c.2307T>A (p.Arg769=)
c.1968T>A (p.Arg656=)
c.2316T>A (p.Arg772=)
c.2241+183T>A (n.2241+183T>A)
c.2205+183T>A (n.2205+183T>A)
c.2346T>A (p.Arg782=)
c.2133+183T>A (n.2133+183T>A)
c.1680-6020T>A (n.1680-6020T>A)
c.2442T>A (p.Arg814=)
c.2508T>A (p.Arg836=)
c.2505T>A (p.Arg835=)
c.2478T>A (p.Arg826=)
c.2424T>A (p.Arg808=)
c.2397T>A (p.Arg799=)
c.2382T>A (p.Arg794=)
c.1989T>A (p.Arg663=)
c.2451T>A (p.Arg817=)
c.2388T>A (p.Arg796=)
c.2385T>A (p.Arg795=)
c.2343T>A (p.Arg781=)
c.1416T>A (p.Arg472=)
20g.63406864delCA2697547447KCNQ2c.2453del (p.Arg818LeufsTer?)
c.2399del (p.Arg800LeufsTer?)
c.1796del (p.Arg599LeufsTer?)
c.2306del (p.Arg769LeufsTer?)
c.1967del (p.Arg656LeufsTer?)
c.2315del (p.Arg772LeufsTer?)
c.2241+182del (n.2241+182del)
c.2205+182del (n.2205+182del)
c.2345del (p.Arg782LeufsTer?)
c.2133+182del (n.2133+182del)
c.1680-6021del (n.1680-6021del)
c.2441del (p.Arg814LeufsTer?)
c.2507del (p.Arg836LeufsTer?)
c.2504del (p.Arg835LeufsTer?)
c.2477del (p.Arg826LeufsTer?)
c.2423del (p.Arg808LeufsTer?)
c.2396del (p.Arg799LeufsTer?)
c.2381del (p.Arg794LeufsTer?)
c.1988del (p.Arg663LeufsTer?)
c.2450del (p.Arg817LeufsTer?)
c.2387del (p.Arg796LeufsTer?)
c.2384del (p.Arg795LeufsTer?)
c.2342del (p.Arg781LeufsTer?)
c.1415del (p.Arg472LeufsTer?)
 ClinVar
20g.63406864C>ACA409637262KCNQ2c.2453G>T (p.Arg818Leu)
c.2399G>T (p.Arg800Leu)
c.1796G>T (p.Arg599Leu)
c.2306G>T (p.Arg769Leu)
c.1967G>T (p.Arg656Leu)
c.2315G>T (p.Arg772Leu)
c.2241+182G>T (n.2241+182G>T)
c.2205+182G>T (n.2205+182G>T)
c.2345G>T (p.Arg782Leu)
c.2133+182G>T (n.2133+182G>T)
c.1680-6021G>T (n.1680-6021G>T)
c.2441G>T (p.Arg814Leu)
c.2507G>T (p.Arg836Leu)
c.2504G>T (p.Arg835Leu)
c.2477G>T (p.Arg826Leu)
c.2423G>T (p.Arg808Leu)
c.2396G>T (p.Arg799Leu)
c.2381G>T (p.Arg794Leu)
c.1988G>T (p.Arg663Leu)
c.2450G>T (p.Arg817Leu)
c.2387G>T (p.Arg796Leu)
c.2384G>T (p.Arg795Leu)
c.2342G>T (p.Arg781Leu)
c.1415G>T (p.Arg472Leu)
 ClinVar
20g.63406864C=CA2374774278KCNQ2c.2453G= (p.Arg818=)
c.2399G= (p.Arg800=)
c.1796G= (p.Arg599=)
c.2306G= (p.Arg769=)
c.1967G= (p.Arg656=)
c.2315G= (p.Arg772=)
c.2241+182G= (n.2241+182G=)
c.2205+182G= (n.2205+182G=)
c.2345G= (p.Arg782=)
c.2133+182G= (n.2133+182G=)
c.1680-6021G= (n.1680-6021G=)
c.2441G= (p.Arg814=)
c.2507G= (p.Arg836=)
c.2504G= (p.Arg835=)
c.2477G= (p.Arg826=)
c.2423G= (p.Arg808=)
c.2396G= (p.Arg799=)
c.2381G= (p.Arg794=)
c.1988G= (p.Arg663=)
c.2450G= (p.Arg817=)
c.2387G= (p.Arg796=)
c.2384G= (p.Arg795=)
c.2342G= (p.Arg781=)
c.1415G= (p.Arg472=)
20g.63406864C>GCA409637264KCNQ2c.2453G>C (p.Arg818Pro)
c.2399G>C (p.Arg800Pro)
c.1796G>C (p.Arg599Pro)
c.2306G>C (p.Arg769Pro)
c.1967G>C (p.Arg656Pro)
c.2315G>C (p.Arg772Pro)
c.2241+182G>C (n.2241+182G>C)
c.2205+182G>C (n.2205+182G>C)
c.2345G>C (p.Arg782Pro)
c.2133+182G>C (n.2133+182G>C)
c.1680-6021G>C (n.1680-6021G>C)
c.2441G>C (p.Arg814Pro)
c.2507G>C (p.Arg836Pro)
c.2504G>C (p.Arg835Pro)
c.2477G>C (p.Arg826Pro)
c.2423G>C (p.Arg808Pro)
c.2396G>C (p.Arg799Pro)
c.2381G>C (p.Arg794Pro)
c.1988G>C (p.Arg663Pro)
c.2450G>C (p.Arg817Pro)
c.2387G>C (p.Arg796Pro)
c.2384G>C (p.Arg795Pro)
c.2342G>C (p.Arg781Pro)
c.1415G>C (p.Arg472Pro)
20g.63406864C>TCA9958080KCNQ2c.2453G>A (p.Arg818His)
c.2399G>A (p.Arg800His)
c.1796G>A (p.Arg599His)
c.2306G>A (p.Arg769His)
c.1967G>A (p.Arg656His)
c.2315G>A (p.Arg772His)
c.2241+182G>A (n.2241+182G>A)
c.2205+182G>A (n.2205+182G>A)
c.2345G>A (p.Arg782His)
c.2133+182G>A (n.2133+182G>A)
c.1680-6021G>A (n.1680-6021G>A)
c.2441G>A (p.Arg814His)
c.2507G>A (p.Arg836His)
c.2504G>A (p.Arg835His)
c.2477G>A (p.Arg826His)
c.2423G>A (p.Arg808His)
c.2396G>A (p.Arg799His)
c.2381G>A (p.Arg794His)
c.1988G>A (p.Arg663His)
c.2450G>A (p.Arg817His)
c.2387G>A (p.Arg796His)
c.2384G>A (p.Arg795His)
c.2342G>A (p.Arg781His)
c.1415G>A (p.Arg472His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406865G>ACA409637270KCNQ2c.2452C>T (p.Arg818Cys)
c.2398C>T (p.Arg800Cys)
c.1795C>T (p.Arg599Cys)
c.2305C>T (p.Arg769Cys)
c.1966C>T (p.Arg656Cys)
c.2314C>T (p.Arg772Cys)
c.2241+181C>T (n.2241+181C>T)
c.2205+181C>T (n.2205+181C>T)
c.2344C>T (p.Arg782Cys)
c.2133+181C>T (n.2133+181C>T)
c.1680-6022C>T (n.1680-6022C>T)
c.2440C>T (p.Arg814Cys)
c.2506C>T (p.Arg836Cys)
c.2503C>T (p.Arg835Cys)
c.2476C>T (p.Arg826Cys)
c.2422C>T (p.Arg808Cys)
c.2395C>T (p.Arg799Cys)
c.2380C>T (p.Arg794Cys)
c.1987C>T (p.Arg663Cys)
c.2449C>T (p.Arg817Cys)
c.2386C>T (p.Arg796Cys)
c.2383C>T (p.Arg795Cys)
c.2341C>T (p.Arg781Cys)
c.1414C>T (p.Arg472Cys)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
20g.63406865G>CCA409637272KCNQ2c.2452C>G (p.Arg818Gly)
c.2398C>G (p.Arg800Gly)
c.1795C>G (p.Arg599Gly)
c.2305C>G (p.Arg769Gly)
c.1966C>G (p.Arg656Gly)
c.2314C>G (p.Arg772Gly)
c.2241+181C>G (n.2241+181C>G)
c.2205+181C>G (n.2205+181C>G)
c.2344C>G (p.Arg782Gly)
c.2133+181C>G (n.2133+181C>G)
c.1680-6022C>G (n.1680-6022C>G)
c.2440C>G (p.Arg814Gly)
c.2506C>G (p.Arg836Gly)
c.2503C>G (p.Arg835Gly)
c.2476C>G (p.Arg826Gly)
c.2422C>G (p.Arg808Gly)
c.2395C>G (p.Arg799Gly)
c.2380C>G (p.Arg794Gly)
c.1987C>G (p.Arg663Gly)
c.2449C>G (p.Arg817Gly)
c.2386C>G (p.Arg796Gly)
c.2383C>G (p.Arg795Gly)
c.2341C>G (p.Arg781Gly)
c.1414C>G (p.Arg472Gly)
20g.63406865G=CA2374774279KCNQ2c.2452C= (p.Arg818=)
c.2398C= (p.Arg800=)
c.1795C= (p.Arg599=)
c.2305C= (p.Arg769=)
c.1966C= (p.Arg656=)
c.2314C= (p.Arg772=)
c.2241+181C= (n.2241+181C=)
c.2205+181C= (n.2205+181C=)
c.2344C= (p.Arg782=)
c.2133+181C= (n.2133+181C=)
c.1680-6022C= (n.1680-6022C=)
c.2440C= (p.Arg814=)
c.2506C= (p.Arg836=)
c.2503C= (p.Arg835=)
c.2476C= (p.Arg826=)
c.2422C= (p.Arg808=)
c.2395C= (p.Arg799=)
c.2380C= (p.Arg794=)
c.1987C= (p.Arg663=)
c.2449C= (p.Arg817=)
c.2386C= (p.Arg796=)
c.2383C= (p.Arg795=)
c.2341C= (p.Arg781=)
c.1414C= (p.Arg472=)
20g.63406865G>TCA409637268KCNQ2c.2452C>A (p.Arg818Ser)
c.2398C>A (p.Arg800Ser)
c.1795C>A (p.Arg599Ser)
c.2305C>A (p.Arg769Ser)
c.1966C>A (p.Arg656Ser)
c.2314C>A (p.Arg772Ser)
c.2241+181C>A (n.2241+181C>A)
c.2205+181C>A (n.2205+181C>A)
c.2344C>A (p.Arg782Ser)
c.2133+181C>A (n.2133+181C>A)
c.1680-6022C>A (n.1680-6022C>A)
c.2440C>A (p.Arg814Ser)
c.2506C>A (p.Arg836Ser)
c.2503C>A (p.Arg835Ser)
c.2476C>A (p.Arg826Ser)
c.2422C>A (p.Arg808Ser)
c.2395C>A (p.Arg799Ser)
c.2380C>A (p.Arg794Ser)
c.1987C>A (p.Arg663Ser)
c.2449C>A (p.Arg817Ser)
c.2386C>A (p.Arg796Ser)
c.2383C>A (p.Arg795Ser)
c.2341C>A (p.Arg781Ser)
c.1414C>A (p.Arg472Ser)
20g.63406866C>ACA409637274KCNQ2c.2451G>T (p.Glu817Asp)
c.2397G>T (p.Glu799Asp)
c.1794G>T (p.Glu598Asp)
c.2304G>T (p.Glu768Asp)
c.1965G>T (p.Glu655Asp)
c.2313G>T (p.Glu771Asp)
c.2241+180G>T (n.2241+180G>T)
c.2205+180G>T (n.2205+180G>T)
c.2343G>T (p.Glu781Asp)
c.2133+180G>T (n.2133+180G>T)
c.1680-6023G>T (n.1680-6023G>T)
c.2439G>T (p.Glu813Asp)
c.2505G>T (p.Glu835Asp)
c.2502G>T (p.Glu834Asp)
c.2475G>T (p.Glu825Asp)
c.2421G>T (p.Glu807Asp)
c.2394G>T (p.Glu798Asp)
c.2379G>T (p.Glu793Asp)
c.1986G>T (p.Glu662Asp)
c.2448G>T (p.Glu816Asp)
c.2385G>T (p.Glu795Asp)
c.2382G>T (p.Glu794Asp)
c.2340G>T (p.Glu780Asp)
c.1413G>T (p.Glu471Asp)
20g.63406866C>GCA409637276KCNQ2c.2451G>C (p.Glu817Asp)
c.2397G>C (p.Glu799Asp)
c.1794G>C (p.Glu598Asp)
c.2304G>C (p.Glu768Asp)
c.1965G>C (p.Glu655Asp)
c.2313G>C (p.Glu771Asp)
c.2241+180G>C (n.2241+180G>C)
c.2205+180G>C (n.2205+180G>C)
c.2343G>C (p.Glu781Asp)
c.2133+180G>C (n.2133+180G>C)
c.1680-6023G>C (n.1680-6023G>C)
c.2439G>C (p.Glu813Asp)
c.2505G>C (p.Glu835Asp)
c.2502G>C (p.Glu834Asp)
c.2475G>C (p.Glu825Asp)
c.2421G>C (p.Glu807Asp)
c.2394G>C (p.Glu798Asp)
c.2379G>C (p.Glu793Asp)
c.1986G>C (p.Glu662Asp)
c.2448G>C (p.Glu816Asp)
c.2385G>C (p.Glu795Asp)
c.2382G>C (p.Glu794Asp)
c.2340G>C (p.Glu780Asp)
c.1413G>C (p.Glu471Asp)
20g.63406866C>TCA511339428KCNQ2c.2451G>A (p.Glu817=)
c.2397G>A (p.Glu799=)
c.1794G>A (p.Glu598=)
c.2304G>A (p.Glu768=)
c.1965G>A (p.Glu655=)
c.2313G>A (p.Glu771=)
c.2241+180G>A (n.2241+180G>A)
c.2205+180G>A (n.2205+180G>A)
c.2343G>A (p.Glu781=)
c.2133+180G>A (n.2133+180G>A)
c.1680-6023G>A (n.1680-6023G>A)
c.2439G>A (p.Glu813=)
c.2505G>A (p.Glu835=)
c.2502G>A (p.Glu834=)
c.2475G>A (p.Glu825=)
c.2421G>A (p.Glu807=)
c.2394G>A (p.Glu798=)
c.2379G>A (p.Glu793=)
c.1986G>A (p.Glu662=)
c.2448G>A (p.Glu816=)
c.2385G>A (p.Glu795=)
c.2382G>A (p.Glu794=)
c.2340G>A (p.Glu780=)
c.1413G>A (p.Glu471=)
20g.63406867T>ACA409637278KCNQ2c.2450A>T (p.Glu817Val)
c.2396A>T (p.Glu799Val)
c.1793A>T (p.Glu598Val)
c.2303A>T (p.Glu768Val)
c.1964A>T (p.Glu655Val)
c.2312A>T (p.Glu771Val)
c.2241+179A>T (n.2241+179A>T)
c.2205+179A>T (n.2205+179A>T)
c.2342A>T (p.Glu781Val)
c.2133+179A>T (n.2133+179A>T)
c.1680-6024A>T (n.1680-6024A>T)
c.2438A>T (p.Glu813Val)
c.2504A>T (p.Glu835Val)
c.2501A>T (p.Glu834Val)
c.2474A>T (p.Glu825Val)
c.2420A>T (p.Glu807Val)
c.2393A>T (p.Glu798Val)
c.2378A>T (p.Glu793Val)
c.1985A>T (p.Glu662Val)
c.2447A>T (p.Glu816Val)
c.2384A>T (p.Glu795Val)
c.2381A>T (p.Glu794Val)
c.2339A>T (p.Glu780Val)
c.1412A>T (p.Glu471Val)
20g.63406867T>CCA409637280KCNQ2c.2450A>G (p.Glu817Gly)
c.2396A>G (p.Glu799Gly)
c.1793A>G (p.Glu598Gly)
c.2303A>G (p.Glu768Gly)
c.1964A>G (p.Glu655Gly)
c.2312A>G (p.Glu771Gly)
c.2241+179A>G (n.2241+179A>G)
c.2205+179A>G (n.2205+179A>G)
c.2342A>G (p.Glu781Gly)
c.2133+179A>G (n.2133+179A>G)
c.1680-6024A>G (n.1680-6024A>G)
c.2438A>G (p.Glu813Gly)
c.2504A>G (p.Glu835Gly)
c.2501A>G (p.Glu834Gly)
c.2474A>G (p.Glu825Gly)
c.2420A>G (p.Glu807Gly)
c.2393A>G (p.Glu798Gly)
c.2378A>G (p.Glu793Gly)
c.1985A>G (p.Glu662Gly)
c.2447A>G (p.Glu816Gly)
c.2384A>G (p.Glu795Gly)
c.2381A>G (p.Glu794Gly)
c.2339A>G (p.Glu780Gly)
c.1412A>G (p.Glu471Gly)
20g.63406867T>GCA409637282KCNQ2c.2450A>C (p.Glu817Ala)
c.2396A>C (p.Glu799Ala)
c.1793A>C (p.Glu598Ala)
c.2303A>C (p.Glu768Ala)
c.1964A>C (p.Glu655Ala)
c.2312A>C (p.Glu771Ala)
c.2241+179A>C (n.2241+179A>C)
c.2205+179A>C (n.2205+179A>C)
c.2342A>C (p.Glu781Ala)
c.2133+179A>C (n.2133+179A>C)
c.1680-6024A>C (n.1680-6024A>C)
c.2438A>C (p.Glu813Ala)
c.2504A>C (p.Glu835Ala)
c.2501A>C (p.Glu834Ala)
c.2474A>C (p.Glu825Ala)
c.2420A>C (p.Glu807Ala)
c.2393A>C (p.Glu798Ala)
c.2378A>C (p.Glu793Ala)
c.1985A>C (p.Glu662Ala)
c.2447A>C (p.Glu816Ala)
c.2384A>C (p.Glu795Ala)
c.2381A>C (p.Glu794Ala)
c.2339A>C (p.Glu780Ala)
c.1412A>C (p.Glu471Ala)

Number of alleles fetched