Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.63406679del | CA2653804361 | KCNQ2 | c.2640del (p.Phe880LeufsTer?) c.2586del (p.Phe862LeufsTer?) c.1983del (p.Phe661LeufsTer?) c.2493del (p.Phe831LeufsTer?) c.2154del (p.Phe718LeufsTer?) c.2502del (p.Phe834LeufsTer?) c.2241+369del (n.2241+369del) c.2205+369del (n.2205+369del) c.2532del (p.Phe844LeufsTer?) c.2133+369del (n.2133+369del) c.1680-5834del (n.1680-5834del) c.2628del (p.Phe876LeufsTer?) c.2694del (p.Phe898LeufsTer?) c.2691del (p.Phe897LeufsTer?) c.2664del (p.Phe888LeufsTer?) c.2610del (p.Phe870LeufsTer?) c.2583del (p.Phe861LeufsTer?) c.2568del (p.Phe856LeufsTer?) c.2175del (p.Phe725LeufsTer?) c.2637del (p.Phe879LeufsTer?) c.2574del (p.Phe858LeufsTer?) c.2571del (p.Phe857LeufsTer?) c.2529del (p.Phe843LeufsTer?) c.1602del (p.Phe534LeufsTer?) | gnomAD v4 |
20 | g.63406679A= | CA2374774188 | KCNQ2 | c.2638T= (p.Phe880=) c.2584T= (p.Phe862=) c.1981T= (p.Phe661=) c.2491T= (p.Phe831=) c.2152T= (p.Phe718=) c.2500T= (p.Phe834=) c.2241+367T= (n.2241+367T=) c.2205+367T= (n.2205+367T=) c.2530T= (p.Phe844=) c.2133+367T= (n.2133+367T=) c.1680-5836T= (n.1680-5836T=) c.2626T= (p.Phe876=) c.2692T= (p.Phe898=) c.2689T= (p.Phe897=) c.2662T= (p.Phe888=) c.2608T= (p.Phe870=) c.2581T= (p.Phe861=) c.2566T= (p.Phe856=) c.2173T= (p.Phe725=) c.2635T= (p.Phe879=) c.2572T= (p.Phe858=) c.2569T= (p.Phe857=) c.2527T= (p.Phe843=) c.1600T= (p.Phe534=) | |
20 | g.63406679A>C | CA409636452 | KCNQ2 | c.2638T>G (p.Phe880Val) c.2584T>G (p.Phe862Val) c.1981T>G (p.Phe661Val) c.2491T>G (p.Phe831Val) c.2152T>G (p.Phe718Val) c.2500T>G (p.Phe834Val) c.2241+367T>G (n.2241+367T>G) c.2205+367T>G (n.2205+367T>G) c.2530T>G (p.Phe844Val) c.2133+367T>G (n.2133+367T>G) c.1680-5836T>G (n.1680-5836T>G) c.2626T>G (p.Phe876Val) c.2692T>G (p.Phe898Val) c.2689T>G (p.Phe897Val) c.2662T>G (p.Phe888Val) c.2608T>G (p.Phe870Val) c.2581T>G (p.Phe861Val) c.2566T>G (p.Phe856Val) c.2173T>G (p.Phe725Val) c.2635T>G (p.Phe879Val) c.2572T>G (p.Phe858Val) c.2569T>G (p.Phe857Val) c.2527T>G (p.Phe843Val) c.1600T>G (p.Phe534Val) | |
20 | g.63406679A>G | CA090955 | KCNQ2 | c.2638T>C (p.Phe880Leu) c.2584T>C (p.Phe862Leu) c.1981T>C (p.Phe661Leu) c.2491T>C (p.Phe831Leu) c.2152T>C (p.Phe718Leu) c.2500T>C (p.Phe834Leu) c.2241+367T>C (n.2241+367T>C) c.2205+367T>C (n.2205+367T>C) c.2530T>C (p.Phe844Leu) c.2133+367T>C (n.2133+367T>C) c.1680-5836T>C (n.1680-5836T>C) c.2626T>C (p.Phe876Leu) c.2692T>C (p.Phe898Leu) c.2689T>C (p.Phe897Leu) c.2662T>C (p.Phe888Leu) c.2608T>C (p.Phe870Leu) c.2581T>C (p.Phe861Leu) c.2566T>C (p.Phe856Leu) c.2173T>C (p.Phe725Leu) c.2635T>C (p.Phe879Leu) c.2572T>C (p.Phe858Leu) c.2569T>C (p.Phe857Leu) c.2527T>C (p.Phe843Leu) c.1600T>C (p.Phe534Leu) | ClinVar dbSNP gnomAD v4 |
20 | g.63406679A>T | CA409636455 | KCNQ2 | c.2638T>A (p.Phe880Ile) c.2584T>A (p.Phe862Ile) c.1981T>A (p.Phe661Ile) c.2491T>A (p.Phe831Ile) c.2152T>A (p.Phe718Ile) c.2500T>A (p.Phe834Ile) c.2241+367T>A (n.2241+367T>A) c.2205+367T>A (n.2205+367T>A) c.2530T>A (p.Phe844Ile) c.2133+367T>A (n.2133+367T>A) c.1680-5836T>A (n.1680-5836T>A) c.2626T>A (p.Phe876Ile) c.2692T>A (p.Phe898Ile) c.2689T>A (p.Phe897Ile) c.2662T>A (p.Phe888Ile) c.2608T>A (p.Phe870Ile) c.2581T>A (p.Phe861Ile) c.2566T>A (p.Phe856Ile) c.2173T>A (p.Phe725Ile) c.2635T>A (p.Phe879Ile) c.2572T>A (p.Phe858Ile) c.2569T>A (p.Phe857Ile) c.2527T>A (p.Phe843Ile) c.1600T>A (p.Phe534Ile) | |
20 | g.63406680G>A | CA511339185 | KCNQ2 | c.2637C>T (p.Pro879=) c.2583C>T (p.Pro861=) c.1980C>T (p.Pro660=) c.2490C>T (p.Pro830=) c.2151C>T (p.Pro717=) c.2499C>T (p.Pro833=) c.2241+366C>T (n.2241+366C>T) c.2205+366C>T (n.2205+366C>T) c.2529C>T (p.Pro843=) c.2133+366C>T (n.2133+366C>T) c.1680-5837C>T (n.1680-5837C>T) c.2625C>T (p.Pro875=) c.2691C>T (p.Pro897=) c.2688C>T (p.Pro896=) c.2661C>T (p.Pro887=) c.2607C>T (p.Pro869=) c.2580C>T (p.Pro860=) c.2565C>T (p.Pro855=) c.2172C>T (p.Pro724=) c.2634C>T (p.Pro878=) c.2571C>T (p.Pro857=) c.2568C>T (p.Pro856=) c.2526C>T (p.Pro842=) c.1599C>T (p.Pro533=) | |
20 | g.63406680G>C | CA511339186 | KCNQ2 | c.2637C>G (p.Pro879=) c.2583C>G (p.Pro861=) c.1980C>G (p.Pro660=) c.2490C>G (p.Pro830=) c.2151C>G (p.Pro717=) c.2499C>G (p.Pro833=) c.2241+366C>G (n.2241+366C>G) c.2205+366C>G (n.2205+366C>G) c.2529C>G (p.Pro843=) c.2133+366C>G (n.2133+366C>G) c.1680-5837C>G (n.1680-5837C>G) c.2625C>G (p.Pro875=) c.2691C>G (p.Pro897=) c.2688C>G (p.Pro896=) c.2661C>G (p.Pro887=) c.2607C>G (p.Pro869=) c.2580C>G (p.Pro860=) c.2565C>G (p.Pro855=) c.2172C>G (p.Pro724=) c.2634C>G (p.Pro878=) c.2571C>G (p.Pro857=) c.2568C>G (p.Pro856=) c.2526C>G (p.Pro842=) c.1599C>G (p.Pro533=) | ClinVar |
20 | g.63406680G= | CA2374774189 | KCNQ2 | c.2637C= (p.Pro879=) c.2583C= (p.Pro861=) c.1980C= (p.Pro660=) c.2490C= (p.Pro830=) c.2151C= (p.Pro717=) c.2499C= (p.Pro833=) c.2241+366C= (n.2241+366C=) c.2205+366C= (n.2205+366C=) c.2529C= (p.Pro843=) c.2133+366C= (n.2133+366C=) c.1680-5837C= (n.1680-5837C=) c.2625C= (p.Pro875=) c.2691C= (p.Pro897=) c.2688C= (p.Pro896=) c.2661C= (p.Pro887=) c.2607C= (p.Pro869=) c.2580C= (p.Pro860=) c.2565C= (p.Pro855=) c.2172C= (p.Pro724=) c.2634C= (p.Pro878=) c.2571C= (p.Pro857=) c.2568C= (p.Pro856=) c.2526C= (p.Pro842=) c.1599C= (p.Pro533=) | |
20 | g.63406680G>T | CA511339187 | KCNQ2 | c.2637C>A (p.Pro879=) c.2583C>A (p.Pro861=) c.1980C>A (p.Pro660=) c.2490C>A (p.Pro830=) c.2151C>A (p.Pro717=) c.2499C>A (p.Pro833=) c.2241+366C>A (n.2241+366C>A) c.2205+366C>A (n.2205+366C>A) c.2529C>A (p.Pro843=) c.2133+366C>A (n.2133+366C>A) c.1680-5837C>A (n.1680-5837C>A) c.2625C>A (p.Pro875=) c.2691C>A (p.Pro897=) c.2688C>A (p.Pro896=) c.2661C>A (p.Pro887=) c.2607C>A (p.Pro869=) c.2580C>A (p.Pro860=) c.2565C>A (p.Pro855=) c.2172C>A (p.Pro724=) c.2634C>A (p.Pro878=) c.2571C>A (p.Pro857=) c.2568C>A (p.Pro856=) c.2526C>A (p.Pro842=) c.1599C>A (p.Pro533=) | ClinVar dbSNP gnomAD v4 |
20 | g.63406681G>A | CA409636457 | KCNQ2 | c.2636C>T (p.Pro879Leu) c.2582C>T (p.Pro861Leu) c.1979C>T (p.Pro660Leu) c.2489C>T (p.Pro830Leu) c.2150C>T (p.Pro717Leu) c.2498C>T (p.Pro833Leu) c.2241+365C>T (n.2241+365C>T) c.2205+365C>T (n.2205+365C>T) c.2528C>T (p.Pro843Leu) c.2133+365C>T (n.2133+365C>T) c.1680-5838C>T (n.1680-5838C>T) c.2624C>T (p.Pro875Leu) c.2690C>T (p.Pro897Leu) c.2687C>T (p.Pro896Leu) c.2660C>T (p.Pro887Leu) c.2606C>T (p.Pro869Leu) c.2579C>T (p.Pro860Leu) c.2564C>T (p.Pro855Leu) c.2171C>T (p.Pro724Leu) c.2633C>T (p.Pro878Leu) c.2570C>T (p.Pro857Leu) c.2567C>T (p.Pro856Leu) c.2525C>T (p.Pro842Leu) c.1598C>T (p.Pro533Leu) | gnomAD v4 |
20 | g.63406681G>C | CA409636460 | KCNQ2 | c.2636C>G (p.Pro879Arg) c.2582C>G (p.Pro861Arg) c.1979C>G (p.Pro660Arg) c.2489C>G (p.Pro830Arg) c.2150C>G (p.Pro717Arg) c.2498C>G (p.Pro833Arg) c.2241+365C>G (n.2241+365C>G) c.2205+365C>G (n.2205+365C>G) c.2528C>G (p.Pro843Arg) c.2133+365C>G (n.2133+365C>G) c.1680-5838C>G (n.1680-5838C>G) c.2624C>G (p.Pro875Arg) c.2690C>G (p.Pro897Arg) c.2687C>G (p.Pro896Arg) c.2660C>G (p.Pro887Arg) c.2606C>G (p.Pro869Arg) c.2579C>G (p.Pro860Arg) c.2564C>G (p.Pro855Arg) c.2171C>G (p.Pro724Arg) c.2633C>G (p.Pro878Arg) c.2570C>G (p.Pro857Arg) c.2567C>G (p.Pro856Arg) c.2525C>G (p.Pro842Arg) c.1598C>G (p.Pro533Arg) | |
20 | g.63406681G>T | CA409636462 | KCNQ2 | c.2636C>A (p.Pro879His) c.2582C>A (p.Pro861His) c.1979C>A (p.Pro660His) c.2489C>A (p.Pro830His) c.2150C>A (p.Pro717His) c.2498C>A (p.Pro833His) c.2241+365C>A (n.2241+365C>A) c.2205+365C>A (n.2205+365C>A) c.2528C>A (p.Pro843His) c.2133+365C>A (n.2133+365C>A) c.1680-5838C>A (n.1680-5838C>A) c.2624C>A (p.Pro875His) c.2690C>A (p.Pro897His) c.2687C>A (p.Pro896His) c.2660C>A (p.Pro887His) c.2606C>A (p.Pro869His) c.2579C>A (p.Pro860His) c.2564C>A (p.Pro855His) c.2171C>A (p.Pro724His) c.2633C>A (p.Pro878His) c.2570C>A (p.Pro857His) c.2567C>A (p.Pro856His) c.2525C>A (p.Pro842His) c.1598C>A (p.Pro533His) | gnomAD v4 |
20 | g.63406682G>A | CA409636464 | KCNQ2 | c.2635C>T (p.Pro879Ser) c.2581C>T (p.Pro861Ser) c.1978C>T (p.Pro660Ser) c.2488C>T (p.Pro830Ser) c.2149C>T (p.Pro717Ser) c.2497C>T (p.Pro833Ser) c.2241+364C>T (n.2241+364C>T) c.2205+364C>T (n.2205+364C>T) c.2527C>T (p.Pro843Ser) c.2133+364C>T (n.2133+364C>T) c.1680-5839C>T (n.1680-5839C>T) c.2623C>T (p.Pro875Ser) c.2689C>T (p.Pro897Ser) c.2686C>T (p.Pro896Ser) c.2659C>T (p.Pro887Ser) c.2605C>T (p.Pro869Ser) c.2578C>T (p.Pro860Ser) c.2563C>T (p.Pro855Ser) c.2170C>T (p.Pro724Ser) c.2632C>T (p.Pro878Ser) c.2569C>T (p.Pro857Ser) c.2566C>T (p.Pro856Ser) c.2524C>T (p.Pro842Ser) c.1597C>T (p.Pro533Ser) | dbSNP gnomAD v4 |
20 | g.63406682G>C | CA409636465 | KCNQ2 | c.2635C>G (p.Pro879Ala) c.2581C>G (p.Pro861Ala) c.1978C>G (p.Pro660Ala) c.2488C>G (p.Pro830Ala) c.2149C>G (p.Pro717Ala) c.2497C>G (p.Pro833Ala) c.2241+364C>G (n.2241+364C>G) c.2205+364C>G (n.2205+364C>G) c.2527C>G (p.Pro843Ala) c.2133+364C>G (n.2133+364C>G) c.1680-5839C>G (n.1680-5839C>G) c.2623C>G (p.Pro875Ala) c.2689C>G (p.Pro897Ala) c.2686C>G (p.Pro896Ala) c.2659C>G (p.Pro887Ala) c.2605C>G (p.Pro869Ala) c.2578C>G (p.Pro860Ala) c.2563C>G (p.Pro855Ala) c.2170C>G (p.Pro724Ala) c.2632C>G (p.Pro878Ala) c.2569C>G (p.Pro857Ala) c.2566C>G (p.Pro856Ala) c.2524C>G (p.Pro842Ala) c.1597C>G (p.Pro533Ala) | |
20 | g.63406682G= | CA2374774190 | KCNQ2 | c.2635C= (p.Pro879=) c.2581C= (p.Pro861=) c.1978C= (p.Pro660=) c.2488C= (p.Pro830=) c.2149C= (p.Pro717=) c.2497C= (p.Pro833=) c.2241+364C= (n.2241+364C=) c.2205+364C= (n.2205+364C=) c.2527C= (p.Pro843=) c.2133+364C= (n.2133+364C=) c.1680-5839C= (n.1680-5839C=) c.2623C= (p.Pro875=) c.2689C= (p.Pro897=) c.2686C= (p.Pro896=) c.2659C= (p.Pro887=) c.2605C= (p.Pro869=) c.2578C= (p.Pro860=) c.2563C= (p.Pro855=) c.2170C= (p.Pro724=) c.2632C= (p.Pro878=) c.2569C= (p.Pro857=) c.2566C= (p.Pro856=) c.2524C= (p.Pro842=) c.1597C= (p.Pro533=) | |
20 | g.63406682G>T | CA409636466 | KCNQ2 | c.2635C>A (p.Pro879Thr) c.2581C>A (p.Pro861Thr) c.1978C>A (p.Pro660Thr) c.2488C>A (p.Pro830Thr) c.2149C>A (p.Pro717Thr) c.2497C>A (p.Pro833Thr) c.2241+364C>A (n.2241+364C>A) c.2205+364C>A (n.2205+364C>A) c.2527C>A (p.Pro843Thr) c.2133+364C>A (n.2133+364C>A) c.1680-5839C>A (n.1680-5839C>A) c.2623C>A (p.Pro875Thr) c.2689C>A (p.Pro897Thr) c.2686C>A (p.Pro896Thr) c.2659C>A (p.Pro887Thr) c.2605C>A (p.Pro869Thr) c.2578C>A (p.Pro860Thr) c.2563C>A (p.Pro855Thr) c.2170C>A (p.Pro724Thr) c.2632C>A (p.Pro878Thr) c.2569C>A (p.Pro857Thr) c.2566C>A (p.Pro856Thr) c.2524C>A (p.Pro842Thr) c.1597C>A (p.Pro533Thr) | gnomAD v4 |
20 | g.63406683A>C | CA511339188 | KCNQ2 | c.2634T>G (p.Gly878=) c.2580T>G (p.Gly860=) c.1977T>G (p.Gly659=) c.2487T>G (p.Gly829=) c.2148T>G (p.Gly716=) c.2496T>G (p.Gly832=) c.2241+363T>G (n.2241+363T>G) c.2205+363T>G (n.2205+363T>G) c.2526T>G (p.Gly842=) c.2133+363T>G (n.2133+363T>G) c.1680-5840T>G (n.1680-5840T>G) c.2622T>G (p.Gly874=) c.2688T>G (p.Gly896=) c.2685T>G (p.Gly895=) c.2658T>G (p.Gly886=) c.2604T>G (p.Gly868=) c.2577T>G (p.Gly859=) c.2562T>G (p.Gly854=) c.2169T>G (p.Gly723=) c.2631T>G (p.Gly877=) c.2568T>G (p.Gly856=) c.2565T>G (p.Gly855=) c.2523T>G (p.Gly841=) c.1596T>G (p.Gly532=) | |
20 | g.63406683A>G | CA511339189 | KCNQ2 | c.2634T>C (p.Gly878=) c.2580T>C (p.Gly860=) c.1977T>C (p.Gly659=) c.2487T>C (p.Gly829=) c.2148T>C (p.Gly716=) c.2496T>C (p.Gly832=) c.2241+363T>C (n.2241+363T>C) c.2205+363T>C (n.2205+363T>C) c.2526T>C (p.Gly842=) c.2133+363T>C (n.2133+363T>C) c.1680-5840T>C (n.1680-5840T>C) c.2622T>C (p.Gly874=) c.2688T>C (p.Gly896=) c.2685T>C (p.Gly895=) c.2658T>C (p.Gly886=) c.2604T>C (p.Gly868=) c.2577T>C (p.Gly859=) c.2562T>C (p.Gly854=) c.2169T>C (p.Gly723=) c.2631T>C (p.Gly877=) c.2568T>C (p.Gly856=) c.2565T>C (p.Gly855=) c.2523T>C (p.Gly841=) c.1596T>C (p.Gly532=) | gnomAD v4 |
20 | g.63406683A>T | CA511339190 | KCNQ2 | c.2634T>A (p.Gly878=) c.2580T>A (p.Gly860=) c.1977T>A (p.Gly659=) c.2487T>A (p.Gly829=) c.2148T>A (p.Gly716=) c.2496T>A (p.Gly832=) c.2241+363T>A (n.2241+363T>A) c.2205+363T>A (n.2205+363T>A) c.2526T>A (p.Gly842=) c.2133+363T>A (n.2133+363T>A) c.1680-5840T>A (n.1680-5840T>A) c.2622T>A (p.Gly874=) c.2688T>A (p.Gly896=) c.2685T>A (p.Gly895=) c.2658T>A (p.Gly886=) c.2604T>A (p.Gly868=) c.2577T>A (p.Gly859=) c.2562T>A (p.Gly854=) c.2169T>A (p.Gly723=) c.2631T>A (p.Gly877=) c.2568T>A (p.Gly856=) c.2565T>A (p.Gly855=) c.2523T>A (p.Gly841=) c.1596T>A (p.Gly532=) | |
20 | g.63406684C>A | CA409636471 | KCNQ2 | c.2633G>T (p.Gly878Val) c.2579G>T (p.Gly860Val) c.1976G>T (p.Gly659Val) c.2486G>T (p.Gly829Val) c.2147G>T (p.Gly716Val) c.2495G>T (p.Gly832Val) c.2241+362G>T (n.2241+362G>T) c.2205+362G>T (n.2205+362G>T) c.2525G>T (p.Gly842Val) c.2133+362G>T (n.2133+362G>T) c.1680-5841G>T (n.1680-5841G>T) c.2621G>T (p.Gly874Val) c.2687G>T (p.Gly896Val) c.2684G>T (p.Gly895Val) c.2657G>T (p.Gly886Val) c.2603G>T (p.Gly868Val) c.2576G>T (p.Gly859Val) c.2561G>T (p.Gly854Val) c.2168G>T (p.Gly723Val) c.2630G>T (p.Gly877Val) c.2567G>T (p.Gly856Val) c.2564G>T (p.Gly855Val) c.2522G>T (p.Gly841Val) c.1595G>T (p.Gly532Val) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406684C= | CA2374774191 | KCNQ2 | c.2633G= (p.Gly878=) c.2579G= (p.Gly860=) c.1976G= (p.Gly659=) c.2486G= (p.Gly829=) c.2147G= (p.Gly716=) c.2495G= (p.Gly832=) c.2241+362G= (n.2241+362G=) c.2205+362G= (n.2205+362G=) c.2525G= (p.Gly842=) c.2133+362G= (n.2133+362G=) c.1680-5841G= (n.1680-5841G=) c.2621G= (p.Gly874=) c.2687G= (p.Gly896=) c.2684G= (p.Gly895=) c.2657G= (p.Gly886=) c.2603G= (p.Gly868=) c.2576G= (p.Gly859=) c.2561G= (p.Gly854=) c.2168G= (p.Gly723=) c.2630G= (p.Gly877=) c.2567G= (p.Gly856=) c.2564G= (p.Gly855=) c.2522G= (p.Gly841=) c.1595G= (p.Gly532=) | |
20 | g.63406684C>G | CA409636469 | KCNQ2 | c.2633G>C (p.Gly878Ala) c.2579G>C (p.Gly860Ala) c.1976G>C (p.Gly659Ala) c.2486G>C (p.Gly829Ala) c.2147G>C (p.Gly716Ala) c.2495G>C (p.Gly832Ala) c.2241+362G>C (n.2241+362G>C) c.2205+362G>C (n.2205+362G>C) c.2525G>C (p.Gly842Ala) c.2133+362G>C (n.2133+362G>C) c.1680-5841G>C (n.1680-5841G>C) c.2621G>C (p.Gly874Ala) c.2687G>C (p.Gly896Ala) c.2684G>C (p.Gly895Ala) c.2657G>C (p.Gly886Ala) c.2603G>C (p.Gly868Ala) c.2576G>C (p.Gly859Ala) c.2561G>C (p.Gly854Ala) c.2168G>C (p.Gly723Ala) c.2630G>C (p.Gly877Ala) c.2567G>C (p.Gly856Ala) c.2564G>C (p.Gly855Ala) c.2522G>C (p.Gly841Ala) c.1595G>C (p.Gly532Ala) | |
20 | g.63406684C>T | CA409636468 | KCNQ2 | c.2633G>A (p.Gly878Asp) c.2579G>A (p.Gly860Asp) c.1976G>A (p.Gly659Asp) c.2486G>A (p.Gly829Asp) c.2147G>A (p.Gly716Asp) c.2495G>A (p.Gly832Asp) c.2241+362G>A (n.2241+362G>A) c.2205+362G>A (n.2205+362G>A) c.2525G>A (p.Gly842Asp) c.2133+362G>A (n.2133+362G>A) c.1680-5841G>A (n.1680-5841G>A) c.2621G>A (p.Gly874Asp) c.2687G>A (p.Gly896Asp) c.2684G>A (p.Gly895Asp) c.2657G>A (p.Gly886Asp) c.2603G>A (p.Gly868Asp) c.2576G>A (p.Gly859Asp) c.2561G>A (p.Gly854Asp) c.2168G>A (p.Gly723Asp) c.2630G>A (p.Gly877Asp) c.2567G>A (p.Gly856Asp) c.2564G>A (p.Gly855Asp) c.2522G>A (p.Gly841Asp) c.1595G>A (p.Gly532Asp) | |
20 | g.63406685C>A | CA409636473 | KCNQ2 | c.2632G>T (p.Gly878Cys) c.2578G>T (p.Gly860Cys) c.1975G>T (p.Gly659Cys) c.2485G>T (p.Gly829Cys) c.2146G>T (p.Gly716Cys) c.2494G>T (p.Gly832Cys) c.2241+361G>T (n.2241+361G>T) c.2205+361G>T (n.2205+361G>T) c.2524G>T (p.Gly842Cys) c.2133+361G>T (n.2133+361G>T) c.1680-5842G>T (n.1680-5842G>T) c.2620G>T (p.Gly874Cys) c.2686G>T (p.Gly896Cys) c.2683G>T (p.Gly895Cys) c.2656G>T (p.Gly886Cys) c.2602G>T (p.Gly868Cys) c.2575G>T (p.Gly859Cys) c.2560G>T (p.Gly854Cys) c.2167G>T (p.Gly723Cys) c.2629G>T (p.Gly877Cys) c.2566G>T (p.Gly856Cys) c.2563G>T (p.Gly855Cys) c.2521G>T (p.Gly841Cys) c.1594G>T (p.Gly532Cys) | gnomAD v4 |
20 | g.63406685C>G | CA409636475 | KCNQ2 | c.2632G>C (p.Gly878Arg) c.2578G>C (p.Gly860Arg) c.1975G>C (p.Gly659Arg) c.2485G>C (p.Gly829Arg) c.2146G>C (p.Gly716Arg) c.2494G>C (p.Gly832Arg) c.2241+361G>C (n.2241+361G>C) c.2205+361G>C (n.2205+361G>C) c.2524G>C (p.Gly842Arg) c.2133+361G>C (n.2133+361G>C) c.1680-5842G>C (n.1680-5842G>C) c.2620G>C (p.Gly874Arg) c.2686G>C (p.Gly896Arg) c.2683G>C (p.Gly895Arg) c.2656G>C (p.Gly886Arg) c.2602G>C (p.Gly868Arg) c.2575G>C (p.Gly859Arg) c.2560G>C (p.Gly854Arg) c.2167G>C (p.Gly723Arg) c.2629G>C (p.Gly877Arg) c.2566G>C (p.Gly856Arg) c.2563G>C (p.Gly855Arg) c.2521G>C (p.Gly841Arg) c.1594G>C (p.Gly532Arg) | ClinVar |
20 | g.63406685C>T | CA409636477 | KCNQ2 | c.2632G>A (p.Gly878Ser) c.2578G>A (p.Gly860Ser) c.1975G>A (p.Gly659Ser) c.2485G>A (p.Gly829Ser) c.2146G>A (p.Gly716Ser) c.2494G>A (p.Gly832Ser) c.2241+361G>A (n.2241+361G>A) c.2205+361G>A (n.2205+361G>A) c.2524G>A (p.Gly842Ser) c.2133+361G>A (n.2133+361G>A) c.1680-5842G>A (n.1680-5842G>A) c.2620G>A (p.Gly874Ser) c.2686G>A (p.Gly896Ser) c.2683G>A (p.Gly895Ser) c.2656G>A (p.Gly886Ser) c.2602G>A (p.Gly868Ser) c.2575G>A (p.Gly859Ser) c.2560G>A (p.Gly854Ser) c.2167G>A (p.Gly723Ser) c.2629G>A (p.Gly877Ser) c.2566G>A (p.Gly856Ser) c.2563G>A (p.Gly855Ser) c.2521G>A (p.Gly841Ser) c.1594G>A (p.Gly532Ser) | gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63406686C>A | CA409636479 | KCNQ2 | c.2631G>T (p.Glu877Asp) c.2577G>T (p.Glu859Asp) c.1974G>T (p.Glu658Asp) c.2484G>T (p.Glu828Asp) c.2145G>T (p.Glu715Asp) c.2493G>T (p.Glu831Asp) c.2241+360G>T (n.2241+360G>T) c.2205+360G>T (n.2205+360G>T) c.2523G>T (p.Glu841Asp) c.2133+360G>T (n.2133+360G>T) c.1680-5843G>T (n.1680-5843G>T) c.2619G>T (p.Glu873Asp) c.2685G>T (p.Glu895Asp) c.2682G>T (p.Glu894Asp) c.2655G>T (p.Glu885Asp) c.2601G>T (p.Glu867Asp) c.2574G>T (p.Glu858Asp) c.2559G>T (p.Glu853Asp) c.2166G>T (p.Glu722Asp) c.2628G>T (p.Glu876Asp) c.2565G>T (p.Glu855Asp) c.2562G>T (p.Glu854Asp) c.2520G>T (p.Glu840Asp) c.1593G>T (p.Glu531Asp) | gnomAD v4 |
20 | g.63406686C= | CA2374774192 | KCNQ2 | c.2631G= (p.Glu877=) c.2577G= (p.Glu859=) c.1974G= (p.Glu658=) c.2484G= (p.Glu828=) c.2145G= (p.Glu715=) c.2493G= (p.Glu831=) c.2241+360G= (n.2241+360G=) c.2205+360G= (n.2205+360G=) c.2523G= (p.Glu841=) c.2133+360G= (n.2133+360G=) c.1680-5843G= (n.1680-5843G=) c.2619G= (p.Glu873=) c.2685G= (p.Glu895=) c.2682G= (p.Glu894=) c.2655G= (p.Glu885=) c.2601G= (p.Glu867=) c.2574G= (p.Glu858=) c.2559G= (p.Glu853=) c.2166G= (p.Glu722=) c.2628G= (p.Glu876=) c.2565G= (p.Glu855=) c.2562G= (p.Glu854=) c.2520G= (p.Glu840=) c.1593G= (p.Glu531=) | |
20 | g.63406686C>G | CA409636481 | KCNQ2 | c.2631G>C (p.Glu877Asp) c.2577G>C (p.Glu859Asp) c.1974G>C (p.Glu658Asp) c.2484G>C (p.Glu828Asp) c.2145G>C (p.Glu715Asp) c.2493G>C (p.Glu831Asp) c.2241+360G>C (n.2241+360G>C) c.2205+360G>C (n.2205+360G>C) c.2523G>C (p.Glu841Asp) c.2133+360G>C (n.2133+360G>C) c.1680-5843G>C (n.1680-5843G>C) c.2619G>C (p.Glu873Asp) c.2685G>C (p.Glu895Asp) c.2682G>C (p.Glu894Asp) c.2655G>C (p.Glu885Asp) c.2601G>C (p.Glu867Asp) c.2574G>C (p.Glu858Asp) c.2559G>C (p.Glu853Asp) c.2166G>C (p.Glu722Asp) c.2628G>C (p.Glu876Asp) c.2565G>C (p.Glu855Asp) c.2562G>C (p.Glu854Asp) c.2520G>C (p.Glu840Asp) c.1593G>C (p.Glu531Asp) | gnomAD v4 |
20 | g.63406686C>T | CA511339191 | KCNQ2 | c.2631G>A (p.Glu877=) c.2577G>A (p.Glu859=) c.1974G>A (p.Glu658=) c.2484G>A (p.Glu828=) c.2145G>A (p.Glu715=) c.2493G>A (p.Glu831=) c.2241+360G>A (n.2241+360G>A) c.2205+360G>A (n.2205+360G>A) c.2523G>A (p.Glu841=) c.2133+360G>A (n.2133+360G>A) c.1680-5843G>A (n.1680-5843G>A) c.2619G>A (p.Glu873=) c.2685G>A (p.Glu895=) c.2682G>A (p.Glu894=) c.2655G>A (p.Glu885=) c.2601G>A (p.Glu867=) c.2574G>A (p.Glu858=) c.2559G>A (p.Glu853=) c.2166G>A (p.Glu722=) c.2628G>A (p.Glu876=) c.2565G>A (p.Glu855=) c.2562G>A (p.Glu854=) c.2520G>A (p.Glu840=) c.1593G>A (p.Glu531=) | ClinVar dbSNP |
20 | g.63406687T>A | CA317421522 | KCNQ2 | c.2630A>T (p.Glu877Val) c.2576A>T (p.Glu859Val) c.1973A>T (p.Glu658Val) c.2483A>T (p.Glu828Val) c.2144A>T (p.Glu715Val) c.2492A>T (p.Glu831Val) c.2241+359A>T (n.2241+359A>T) c.2205+359A>T (n.2205+359A>T) c.2522A>T (p.Glu841Val) c.2133+359A>T (n.2133+359A>T) c.1680-5844A>T (n.1680-5844A>T) c.2618A>T (p.Glu873Val) c.2684A>T (p.Glu895Val) c.2681A>T (p.Glu894Val) c.2654A>T (p.Glu885Val) c.2600A>T (p.Glu867Val) c.2573A>T (p.Glu858Val) c.2558A>T (p.Glu853Val) c.2165A>T (p.Glu722Val) c.2627A>T (p.Glu876Val) c.2564A>T (p.Glu855Val) c.2561A>T (p.Glu854Val) c.2519A>T (p.Glu840Val) c.1592A>T (p.Glu531Val) | dbSNP |
20 | g.63406687T>C | CA409636484 | KCNQ2 | c.2630A>G (p.Glu877Gly) c.2576A>G (p.Glu859Gly) c.1973A>G (p.Glu658Gly) c.2483A>G (p.Glu828Gly) c.2144A>G (p.Glu715Gly) c.2492A>G (p.Glu831Gly) c.2241+359A>G (n.2241+359A>G) c.2205+359A>G (n.2205+359A>G) c.2522A>G (p.Glu841Gly) c.2133+359A>G (n.2133+359A>G) c.1680-5844A>G (n.1680-5844A>G) c.2618A>G (p.Glu873Gly) c.2684A>G (p.Glu895Gly) c.2681A>G (p.Glu894Gly) c.2654A>G (p.Glu885Gly) c.2600A>G (p.Glu867Gly) c.2573A>G (p.Glu858Gly) c.2558A>G (p.Glu853Gly) c.2165A>G (p.Glu722Gly) c.2627A>G (p.Glu876Gly) c.2564A>G (p.Glu855Gly) c.2561A>G (p.Glu854Gly) c.2519A>G (p.Glu840Gly) c.1592A>G (p.Glu531Gly) | |
20 | g.63406687T>G | CA409636486 | KCNQ2 | c.2630A>C (p.Glu877Ala) c.2576A>C (p.Glu859Ala) c.1973A>C (p.Glu658Ala) c.2483A>C (p.Glu828Ala) c.2144A>C (p.Glu715Ala) c.2492A>C (p.Glu831Ala) c.2241+359A>C (n.2241+359A>C) c.2205+359A>C (n.2205+359A>C) c.2522A>C (p.Glu841Ala) c.2133+359A>C (n.2133+359A>C) c.1680-5844A>C (n.1680-5844A>C) c.2618A>C (p.Glu873Ala) c.2684A>C (p.Glu895Ala) c.2681A>C (p.Glu894Ala) c.2654A>C (p.Glu885Ala) c.2600A>C (p.Glu867Ala) c.2573A>C (p.Glu858Ala) c.2558A>C (p.Glu853Ala) c.2165A>C (p.Glu722Ala) c.2627A>C (p.Glu876Ala) c.2564A>C (p.Glu855Ala) c.2561A>C (p.Glu854Ala) c.2519A>C (p.Glu840Ala) c.1592A>C (p.Glu531Ala) | |
20 | g.63406687T= | CA2374774193 | KCNQ2 | c.2630A= (p.Glu877=) c.2576A= (p.Glu859=) c.1973A= (p.Glu658=) c.2483A= (p.Glu828=) c.2144A= (p.Glu715=) c.2492A= (p.Glu831=) c.2241+359A= (n.2241+359A=) c.2205+359A= (n.2205+359A=) c.2522A= (p.Glu841=) c.2133+359A= (n.2133+359A=) c.1680-5844A= (n.1680-5844A=) c.2618A= (p.Glu873=) c.2684A= (p.Glu895=) c.2681A= (p.Glu894=) c.2654A= (p.Glu885=) c.2600A= (p.Glu867=) c.2573A= (p.Glu858=) c.2558A= (p.Glu853=) c.2165A= (p.Glu722=) c.2627A= (p.Glu876=) c.2564A= (p.Glu855=) c.2561A= (p.Glu854=) c.2519A= (p.Glu840=) c.1592A= (p.Glu531=) | |
20 | g.63406688C>A | CA409636489 | KCNQ2 | c.2629G>T (p.Glu877Ter) c.2575G>T (p.Glu859Ter) c.1972G>T (p.Glu658Ter) c.2482G>T (p.Glu828Ter) c.2143G>T (p.Glu715Ter) c.2491G>T (p.Glu831Ter) c.2241+358G>T (n.2241+358G>T) c.2205+358G>T (n.2205+358G>T) c.2521G>T (p.Glu841Ter) c.2133+358G>T (n.2133+358G>T) c.1680-5845G>T (n.1680-5845G>T) c.2617G>T (p.Glu873Ter) c.2683G>T (p.Glu895Ter) c.2680G>T (p.Glu894Ter) c.2653G>T (p.Glu885Ter) c.2599G>T (p.Glu867Ter) c.2572G>T (p.Glu858Ter) c.2557G>T (p.Glu853Ter) c.2164G>T (p.Glu722Ter) c.2626G>T (p.Glu876Ter) c.2563G>T (p.Glu855Ter) c.2560G>T (p.Glu854Ter) c.2518G>T (p.Glu840Ter) c.1591G>T (p.Glu531Ter) | gnomAD v4 |
20 | g.63406688C>G | CA409636490 | KCNQ2 | c.2629G>C (p.Glu877Gln) c.2575G>C (p.Glu859Gln) c.1972G>C (p.Glu658Gln) c.2482G>C (p.Glu828Gln) c.2143G>C (p.Glu715Gln) c.2491G>C (p.Glu831Gln) c.2241+358G>C (n.2241+358G>C) c.2205+358G>C (n.2205+358G>C) c.2521G>C (p.Glu841Gln) c.2133+358G>C (n.2133+358G>C) c.1680-5845G>C (n.1680-5845G>C) c.2617G>C (p.Glu873Gln) c.2683G>C (p.Glu895Gln) c.2680G>C (p.Glu894Gln) c.2653G>C (p.Glu885Gln) c.2599G>C (p.Glu867Gln) c.2572G>C (p.Glu858Gln) c.2557G>C (p.Glu853Gln) c.2164G>C (p.Glu722Gln) c.2626G>C (p.Glu876Gln) c.2563G>C (p.Glu855Gln) c.2560G>C (p.Glu854Gln) c.2518G>C (p.Glu840Gln) c.1591G>C (p.Glu531Gln) | |
20 | g.63406688C>T | CA409636491 | KCNQ2 | c.2629G>A (p.Glu877Lys) c.2575G>A (p.Glu859Lys) c.1972G>A (p.Glu658Lys) c.2482G>A (p.Glu828Lys) c.2143G>A (p.Glu715Lys) c.2491G>A (p.Glu831Lys) c.2241+358G>A (n.2241+358G>A) c.2205+358G>A (n.2205+358G>A) c.2521G>A (p.Glu841Lys) c.2133+358G>A (n.2133+358G>A) c.1680-5845G>A (n.1680-5845G>A) c.2617G>A (p.Glu873Lys) c.2683G>A (p.Glu895Lys) c.2680G>A (p.Glu894Lys) c.2653G>A (p.Glu885Lys) c.2599G>A (p.Glu867Lys) c.2572G>A (p.Glu858Lys) c.2557G>A (p.Glu853Lys) c.2164G>A (p.Glu722Lys) c.2626G>A (p.Glu876Lys) c.2563G>A (p.Glu855Lys) c.2560G>A (p.Glu854Lys) c.2518G>A (p.Glu840Lys) c.1591G>A (p.Glu531Lys) | ClinVar gnomAD v4 |
20 | g.63406689G>A | CA9958055 | KCNQ2 | c.2628C>T (p.Gly876=) c.2574C>T (p.Gly858=) c.1971C>T (p.Gly657=) c.2481C>T (p.Gly827=) c.2142C>T (p.Gly714=) c.2490C>T (p.Gly830=) c.2241+357C>T (n.2241+357C>T) c.2205+357C>T (n.2205+357C>T) c.2520C>T (p.Gly840=) c.2133+357C>T (n.2133+357C>T) c.1680-5846C>T (n.1680-5846C>T) c.2616C>T (p.Gly872=) c.2682C>T (p.Gly894=) c.2679C>T (p.Gly893=) c.2652C>T (p.Gly884=) c.2598C>T (p.Gly866=) c.2571C>T (p.Gly857=) c.2556C>T (p.Gly852=) c.2163C>T (p.Gly721=) c.2625C>T (p.Gly875=) c.2562C>T (p.Gly854=) c.2559C>T (p.Gly853=) c.2517C>T (p.Gly839=) c.1590C>T (p.Gly530=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406689G>C | CA511339192 | KCNQ2 | c.2628C>G (p.Gly876=) c.2574C>G (p.Gly858=) c.1971C>G (p.Gly657=) c.2481C>G (p.Gly827=) c.2142C>G (p.Gly714=) c.2490C>G (p.Gly830=) c.2241+357C>G (n.2241+357C>G) c.2205+357C>G (n.2205+357C>G) c.2520C>G (p.Gly840=) c.2133+357C>G (n.2133+357C>G) c.1680-5846C>G (n.1680-5846C>G) c.2616C>G (p.Gly872=) c.2682C>G (p.Gly894=) c.2679C>G (p.Gly893=) c.2652C>G (p.Gly884=) c.2598C>G (p.Gly866=) c.2571C>G (p.Gly857=) c.2556C>G (p.Gly852=) c.2163C>G (p.Gly721=) c.2625C>G (p.Gly875=) c.2562C>G (p.Gly854=) c.2559C>G (p.Gly853=) c.2517C>G (p.Gly839=) c.1590C>G (p.Gly530=) | |
20 | g.63406689G= | CA2374774194 | KCNQ2 | c.2628C= (p.Gly876=) c.2574C= (p.Gly858=) c.1971C= (p.Gly657=) c.2481C= (p.Gly827=) c.2142C= (p.Gly714=) c.2490C= (p.Gly830=) c.2241+357C= (n.2241+357C=) c.2205+357C= (n.2205+357C=) c.2520C= (p.Gly840=) c.2133+357C= (n.2133+357C=) c.1680-5846C= (n.1680-5846C=) c.2616C= (p.Gly872=) c.2682C= (p.Gly894=) c.2679C= (p.Gly893=) c.2652C= (p.Gly884=) c.2598C= (p.Gly866=) c.2571C= (p.Gly857=) c.2556C= (p.Gly852=) c.2163C= (p.Gly721=) c.2625C= (p.Gly875=) c.2562C= (p.Gly854=) c.2559C= (p.Gly853=) c.2517C= (p.Gly839=) c.1590C= (p.Gly530=) | |
20 | g.63406689G>T | CA511339193 | KCNQ2 | c.2628C>A (p.Gly876=) c.2574C>A (p.Gly858=) c.1971C>A (p.Gly657=) c.2481C>A (p.Gly827=) c.2142C>A (p.Gly714=) c.2490C>A (p.Gly830=) c.2241+357C>A (n.2241+357C>A) c.2205+357C>A (n.2205+357C>A) c.2520C>A (p.Gly840=) c.2133+357C>A (n.2133+357C>A) c.1680-5846C>A (n.1680-5846C>A) c.2616C>A (p.Gly872=) c.2682C>A (p.Gly894=) c.2679C>A (p.Gly893=) c.2652C>A (p.Gly884=) c.2598C>A (p.Gly866=) c.2571C>A (p.Gly857=) c.2556C>A (p.Gly852=) c.2163C>A (p.Gly721=) c.2625C>A (p.Gly875=) c.2562C>A (p.Gly854=) c.2559C>A (p.Gly853=) c.2517C>A (p.Gly839=) c.1590C>A (p.Gly530=) | |
20 | g.63406693_63406699del | CA2499225797 | KCNQ2 | c.2622_2628del (p.Thr875ArgfsTer?) c.2568_2574del (p.Thr857ArgfsTer?) c.1965_1971del (p.Thr656ArgfsTer?) c.2475_2481del (p.Thr826ArgfsTer?) c.2136_2142del (p.Thr713ArgfsTer?) c.2484_2490del (p.Thr829ArgfsTer?) c.2241+351_2241+357del (n.2241+351_2241+357del) c.2205+351_2205+357del (n.2205+351_2205+357del) c.2514_2520del (p.Thr839ArgfsTer?) c.2133+351_2133+357del (n.2133+351_2133+357del) c.1680-5852_1680-5846del (n.1680-5852_1680-5846del) c.2610_2616del (p.Thr871ArgfsTer?) c.2676_2682del (p.Thr893ArgfsTer?) c.2673_2679del (p.Thr892ArgfsTer?) c.2646_2652del (p.Thr883ArgfsTer?) c.2592_2598del (p.Thr865ArgfsTer?) c.2565_2571del (p.Thr856ArgfsTer?) c.2550_2556del (p.Thr851ArgfsTer?) c.2157_2163del (p.Thr720ArgfsTer?) c.2619_2625del (p.Thr874ArgfsTer?) c.2556_2562del (p.Thr853ArgfsTer?) c.2553_2559del (p.Thr852ArgfsTer?) c.2511_2517del (p.Thr838ArgfsTer?) c.1584_1590del (p.Thr529ArgfsTer?) | ClinVar dbSNP |
20 | g.63406690C>A | CA409636498 | KCNQ2 | c.2627G>T (p.Gly876Val) c.2573G>T (p.Gly858Val) c.1970G>T (p.Gly657Val) c.2480G>T (p.Gly827Val) c.2141G>T (p.Gly714Val) c.2489G>T (p.Gly830Val) c.2241+356G>T (n.2241+356G>T) c.2205+356G>T (n.2205+356G>T) c.2519G>T (p.Gly840Val) c.2133+356G>T (n.2133+356G>T) c.1680-5847G>T (n.1680-5847G>T) c.2615G>T (p.Gly872Val) c.2681G>T (p.Gly894Val) c.2678G>T (p.Gly893Val) c.2651G>T (p.Gly884Val) c.2597G>T (p.Gly866Val) c.2570G>T (p.Gly857Val) c.2555G>T (p.Gly852Val) c.2162G>T (p.Gly721Val) c.2624G>T (p.Gly875Val) c.2561G>T (p.Gly854Val) c.2558G>T (p.Gly853Val) c.2516G>T (p.Gly839Val) c.1589G>T (p.Gly530Val) | |
20 | g.63406690C>G | CA409636496 | KCNQ2 | c.2627G>C (p.Gly876Ala) c.2573G>C (p.Gly858Ala) c.1970G>C (p.Gly657Ala) c.2480G>C (p.Gly827Ala) c.2141G>C (p.Gly714Ala) c.2489G>C (p.Gly830Ala) c.2241+356G>C (n.2241+356G>C) c.2205+356G>C (n.2205+356G>C) c.2519G>C (p.Gly840Ala) c.2133+356G>C (n.2133+356G>C) c.1680-5847G>C (n.1680-5847G>C) c.2615G>C (p.Gly872Ala) c.2681G>C (p.Gly894Ala) c.2678G>C (p.Gly893Ala) c.2651G>C (p.Gly884Ala) c.2597G>C (p.Gly866Ala) c.2570G>C (p.Gly857Ala) c.2555G>C (p.Gly852Ala) c.2162G>C (p.Gly721Ala) c.2624G>C (p.Gly875Ala) c.2561G>C (p.Gly854Ala) c.2558G>C (p.Gly853Ala) c.2516G>C (p.Gly839Ala) c.1589G>C (p.Gly530Ala) | |
20 | g.63406690C>T | CA409636494 | KCNQ2 | c.2627G>A (p.Gly876Asp) c.2573G>A (p.Gly858Asp) c.1970G>A (p.Gly657Asp) c.2480G>A (p.Gly827Asp) c.2141G>A (p.Gly714Asp) c.2489G>A (p.Gly830Asp) c.2241+356G>A (n.2241+356G>A) c.2205+356G>A (n.2205+356G>A) c.2519G>A (p.Gly840Asp) c.2133+356G>A (n.2133+356G>A) c.1680-5847G>A (n.1680-5847G>A) c.2615G>A (p.Gly872Asp) c.2681G>A (p.Gly894Asp) c.2678G>A (p.Gly893Asp) c.2651G>A (p.Gly884Asp) c.2597G>A (p.Gly866Asp) c.2570G>A (p.Gly857Asp) c.2555G>A (p.Gly852Asp) c.2162G>A (p.Gly721Asp) c.2624G>A (p.Gly875Asp) c.2561G>A (p.Gly854Asp) c.2558G>A (p.Gly853Asp) c.2516G>A (p.Gly839Asp) c.1589G>A (p.Gly530Asp) | |
20 | g.63406691C>A | CA409636500 | KCNQ2 | c.2626G>T (p.Gly876Cys) c.2572G>T (p.Gly858Cys) c.1969G>T (p.Gly657Cys) c.2479G>T (p.Gly827Cys) c.2140G>T (p.Gly714Cys) c.2488G>T (p.Gly830Cys) c.2241+355G>T (n.2241+355G>T) c.2205+355G>T (n.2205+355G>T) c.2518G>T (p.Gly840Cys) c.2133+355G>T (n.2133+355G>T) c.1680-5848G>T (n.1680-5848G>T) c.2614G>T (p.Gly872Cys) c.2680G>T (p.Gly894Cys) c.2677G>T (p.Gly893Cys) c.2650G>T (p.Gly884Cys) c.2596G>T (p.Gly866Cys) c.2569G>T (p.Gly857Cys) c.2554G>T (p.Gly852Cys) c.2161G>T (p.Gly721Cys) c.2623G>T (p.Gly875Cys) c.2560G>T (p.Gly854Cys) c.2557G>T (p.Gly853Cys) c.2515G>T (p.Gly839Cys) c.1588G>T (p.Gly530Cys) | |
20 | g.63406691C= | CA2374774195 | KCNQ2 | c.2626G= (p.Gly876=) c.2572G= (p.Gly858=) c.1969G= (p.Gly657=) c.2479G= (p.Gly827=) c.2140G= (p.Gly714=) c.2488G= (p.Gly830=) c.2241+355G= (n.2241+355G=) c.2205+355G= (n.2205+355G=) c.2518G= (p.Gly840=) c.2133+355G= (n.2133+355G=) c.1680-5848G= (n.1680-5848G=) c.2614G= (p.Gly872=) c.2680G= (p.Gly894=) c.2677G= (p.Gly893=) c.2650G= (p.Gly884=) c.2596G= (p.Gly866=) c.2569G= (p.Gly857=) c.2554G= (p.Gly852=) c.2161G= (p.Gly721=) c.2623G= (p.Gly875=) c.2560G= (p.Gly854=) c.2557G= (p.Gly853=) c.2515G= (p.Gly839=) c.1588G= (p.Gly530=) | |
20 | g.63406691C>G | CA409636502 | KCNQ2 | c.2626G>C (p.Gly876Arg) c.2572G>C (p.Gly858Arg) c.1969G>C (p.Gly657Arg) c.2479G>C (p.Gly827Arg) c.2140G>C (p.Gly714Arg) c.2488G>C (p.Gly830Arg) c.2241+355G>C (n.2241+355G>C) c.2205+355G>C (n.2205+355G>C) c.2518G>C (p.Gly840Arg) c.2133+355G>C (n.2133+355G>C) c.1680-5848G>C (n.1680-5848G>C) c.2614G>C (p.Gly872Arg) c.2680G>C (p.Gly894Arg) c.2677G>C (p.Gly893Arg) c.2650G>C (p.Gly884Arg) c.2596G>C (p.Gly866Arg) c.2569G>C (p.Gly857Arg) c.2554G>C (p.Gly852Arg) c.2161G>C (p.Gly721Arg) c.2623G>C (p.Gly875Arg) c.2560G>C (p.Gly854Arg) c.2557G>C (p.Gly853Arg) c.2515G>C (p.Gly839Arg) c.1588G>C (p.Gly530Arg) | ClinVar |
20 | g.63406691C>T | CA090956 | KCNQ2 | c.2626G>A (p.Gly876Ser) c.2572G>A (p.Gly858Ser) c.1969G>A (p.Gly657Ser) c.2479G>A (p.Gly827Ser) c.2140G>A (p.Gly714Ser) c.2488G>A (p.Gly830Ser) c.2241+355G>A (n.2241+355G>A) c.2205+355G>A (n.2205+355G>A) c.2518G>A (p.Gly840Ser) c.2133+355G>A (n.2133+355G>A) c.1680-5848G>A (n.1680-5848G>A) c.2614G>A (p.Gly872Ser) c.2680G>A (p.Gly894Ser) c.2677G>A (p.Gly893Ser) c.2650G>A (p.Gly884Ser) c.2596G>A (p.Gly866Ser) c.2569G>A (p.Gly857Ser) c.2554G>A (p.Gly852Ser) c.2161G>A (p.Gly721Ser) c.2623G>A (p.Gly875Ser) c.2560G>A (p.Gly854Ser) c.2557G>A (p.Gly853Ser) c.2515G>A (p.Gly839Ser) c.1588G>A (p.Gly530Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406692G>A | CA315327 | KCNQ2 | c.2625C>T (p.Thr875=) c.2571C>T (p.Thr857=) c.1968C>T (p.Thr656=) c.2478C>T (p.Thr826=) c.2139C>T (p.Thr713=) c.2487C>T (p.Thr829=) c.2241+354C>T (n.2241+354C>T) c.2205+354C>T (n.2205+354C>T) c.2517C>T (p.Thr839=) c.2133+354C>T (n.2133+354C>T) c.1680-5849C>T (n.1680-5849C>T) c.2613C>T (p.Thr871=) c.2679C>T (p.Thr893=) c.2676C>T (p.Thr892=) c.2649C>T (p.Thr883=) c.2595C>T (p.Thr865=) c.2568C>T (p.Thr856=) c.2553C>T (p.Thr851=) c.2160C>T (p.Thr720=) c.2622C>T (p.Thr874=) c.2559C>T (p.Thr853=) c.2556C>T (p.Thr852=) c.2514C>T (p.Thr838=) c.1587C>T (p.Thr529=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406692G>C | CA511339194 | KCNQ2 | c.2625C>G (p.Thr875=) c.2571C>G (p.Thr857=) c.1968C>G (p.Thr656=) c.2478C>G (p.Thr826=) c.2139C>G (p.Thr713=) c.2487C>G (p.Thr829=) c.2241+354C>G (n.2241+354C>G) c.2205+354C>G (n.2205+354C>G) c.2517C>G (p.Thr839=) c.2133+354C>G (n.2133+354C>G) c.1680-5849C>G (n.1680-5849C>G) c.2613C>G (p.Thr871=) c.2679C>G (p.Thr893=) c.2676C>G (p.Thr892=) c.2649C>G (p.Thr883=) c.2595C>G (p.Thr865=) c.2568C>G (p.Thr856=) c.2553C>G (p.Thr851=) c.2160C>G (p.Thr720=) c.2622C>G (p.Thr874=) c.2559C>G (p.Thr853=) c.2556C>G (p.Thr852=) c.2514C>G (p.Thr838=) c.1587C>G (p.Thr529=) | |
20 | g.63406692G= | CA2374774196 | KCNQ2 | c.2625C= (p.Thr875=) c.2571C= (p.Thr857=) c.1968C= (p.Thr656=) c.2478C= (p.Thr826=) c.2139C= (p.Thr713=) c.2487C= (p.Thr829=) c.2241+354C= (n.2241+354C=) c.2205+354C= (n.2205+354C=) c.2517C= (p.Thr839=) c.2133+354C= (n.2133+354C=) c.1680-5849C= (n.1680-5849C=) c.2613C= (p.Thr871=) c.2679C= (p.Thr893=) c.2676C= (p.Thr892=) c.2649C= (p.Thr883=) c.2595C= (p.Thr865=) c.2568C= (p.Thr856=) c.2553C= (p.Thr851=) c.2160C= (p.Thr720=) c.2622C= (p.Thr874=) c.2559C= (p.Thr853=) c.2556C= (p.Thr852=) c.2514C= (p.Thr838=) c.1587C= (p.Thr529=) | |
20 | g.63406692G>T | CA511339195 | KCNQ2 | c.2625C>A (p.Thr875=) c.2571C>A (p.Thr857=) c.1968C>A (p.Thr656=) c.2478C>A (p.Thr826=) c.2139C>A (p.Thr713=) c.2487C>A (p.Thr829=) c.2241+354C>A (n.2241+354C>A) c.2205+354C>A (n.2205+354C>A) c.2517C>A (p.Thr839=) c.2133+354C>A (n.2133+354C>A) c.1680-5849C>A (n.1680-5849C>A) c.2613C>A (p.Thr871=) c.2679C>A (p.Thr893=) c.2676C>A (p.Thr892=) c.2649C>A (p.Thr883=) c.2595C>A (p.Thr865=) c.2568C>A (p.Thr856=) c.2553C>A (p.Thr851=) c.2160C>A (p.Thr720=) c.2622C>A (p.Thr874=) c.2559C>A (p.Thr853=) c.2556C>A (p.Thr852=) c.2514C>A (p.Thr838=) c.1587C>A (p.Thr529=) | gnomAD v4 |
20 | g.63406693dup | CA2842871698 | KCNQ2 | c.2625dup (p.Gly876ArgfsTer7) c.2571dup (p.Gly858ArgfsTer7) c.1968dup (p.Gly657ArgfsTer7) c.2478dup (p.Gly827ArgfsTer7) c.2139dup (p.Gly714ArgfsTer7) c.2487dup (p.Gly830ArgfsTer7) c.2241+354dup (n.2241+354dup) c.2205+354dup (n.2205+354dup) c.2517dup (p.Gly840ArgfsTer7) c.2133+354dup (n.2133+354dup) c.1680-5849dup (n.1680-5849dup) c.2613dup (p.Gly872ArgfsTer7) c.2679dup (p.Gly894ArgfsTer7) c.2676dup (p.Gly893ArgfsTer7) c.2649dup (p.Gly884ArgfsTer7) c.2595dup (p.Gly866ArgfsTer7) c.2568dup (p.Gly857ArgfsTer7) c.2553dup (p.Gly852ArgfsTer7) c.2160dup (p.Gly721ArgfsTer7) c.2622dup (p.Gly875ArgfsTer7) c.2559dup (p.Gly854ArgfsTer7) c.2556dup (p.Gly853ArgfsTer7) c.2514dup (p.Gly839ArgfsTer7) c.1587dup (p.Gly530ArgfsTer7) | |
20 | g.63406693G>A | CA9958056 | KCNQ2 | c.2624C>T (p.Thr875Ile) c.2570C>T (p.Thr857Ile) c.1967C>T (p.Thr656Ile) c.2477C>T (p.Thr826Ile) c.2138C>T (p.Thr713Ile) c.2486C>T (p.Thr829Ile) c.2241+353C>T (n.2241+353C>T) c.2205+353C>T (n.2205+353C>T) c.2516C>T (p.Thr839Ile) c.2133+353C>T (n.2133+353C>T) c.1680-5850C>T (n.1680-5850C>T) c.2612C>T (p.Thr871Ile) c.2678C>T (p.Thr893Ile) c.2675C>T (p.Thr892Ile) c.2648C>T (p.Thr883Ile) c.2594C>T (p.Thr865Ile) c.2567C>T (p.Thr856Ile) c.2552C>T (p.Thr851Ile) c.2159C>T (p.Thr720Ile) c.2621C>T (p.Thr874Ile) c.2558C>T (p.Thr853Ile) c.2555C>T (p.Thr852Ile) c.2513C>T (p.Thr838Ile) c.1586C>T (p.Thr529Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406693G>C | CA409636508 | KCNQ2 | c.2624C>G (p.Thr875Ser) c.2570C>G (p.Thr857Ser) c.1967C>G (p.Thr656Ser) c.2477C>G (p.Thr826Ser) c.2138C>G (p.Thr713Ser) c.2486C>G (p.Thr829Ser) c.2241+353C>G (n.2241+353C>G) c.2205+353C>G (n.2205+353C>G) c.2516C>G (p.Thr839Ser) c.2133+353C>G (n.2133+353C>G) c.1680-5850C>G (n.1680-5850C>G) c.2612C>G (p.Thr871Ser) c.2678C>G (p.Thr893Ser) c.2675C>G (p.Thr892Ser) c.2648C>G (p.Thr883Ser) c.2594C>G (p.Thr865Ser) c.2567C>G (p.Thr856Ser) c.2552C>G (p.Thr851Ser) c.2159C>G (p.Thr720Ser) c.2621C>G (p.Thr874Ser) c.2558C>G (p.Thr853Ser) c.2555C>G (p.Thr852Ser) c.2513C>G (p.Thr838Ser) c.1586C>G (p.Thr529Ser) | |
20 | g.63406693G= | CA2374774197 | KCNQ2 | c.2624C= (p.Thr875=) c.2570C= (p.Thr857=) c.1967C= (p.Thr656=) c.2477C= (p.Thr826=) c.2138C= (p.Thr713=) c.2486C= (p.Thr829=) c.2241+353C= (n.2241+353C=) c.2205+353C= (n.2205+353C=) c.2516C= (p.Thr839=) c.2133+353C= (n.2133+353C=) c.1680-5850C= (n.1680-5850C=) c.2612C= (p.Thr871=) c.2678C= (p.Thr893=) c.2675C= (p.Thr892=) c.2648C= (p.Thr883=) c.2594C= (p.Thr865=) c.2567C= (p.Thr856=) c.2552C= (p.Thr851=) c.2159C= (p.Thr720=) c.2621C= (p.Thr874=) c.2558C= (p.Thr853=) c.2555C= (p.Thr852=) c.2513C= (p.Thr838=) c.1586C= (p.Thr529=) | |
20 | g.63406693G>T | CA409636511 | KCNQ2 | c.2624C>A (p.Thr875Asn) c.2570C>A (p.Thr857Asn) c.1967C>A (p.Thr656Asn) c.2477C>A (p.Thr826Asn) c.2138C>A (p.Thr713Asn) c.2486C>A (p.Thr829Asn) c.2241+353C>A (n.2241+353C>A) c.2205+353C>A (n.2205+353C>A) c.2516C>A (p.Thr839Asn) c.2133+353C>A (n.2133+353C>A) c.1680-5850C>A (n.1680-5850C>A) c.2612C>A (p.Thr871Asn) c.2678C>A (p.Thr893Asn) c.2675C>A (p.Thr892Asn) c.2648C>A (p.Thr883Asn) c.2594C>A (p.Thr865Asn) c.2567C>A (p.Thr856Asn) c.2552C>A (p.Thr851Asn) c.2159C>A (p.Thr720Asn) c.2621C>A (p.Thr874Asn) c.2558C>A (p.Thr853Asn) c.2555C>A (p.Thr852Asn) c.2513C>A (p.Thr838Asn) c.1586C>A (p.Thr529Asn) | gnomAD v4 |
20 | g.63406694_63406699dup | CA2577453407 | KCNQ2 | c.2619_2624dup (p.Thr875_Gly876insAlaThr) c.2565_2570dup (p.Thr857_Gly858insAlaThr) c.1962_1967dup (p.Thr656_Gly657insAlaThr) c.2472_2477dup (p.Thr826_Gly827insAlaThr) c.2133_2138dup (p.Thr713_Gly714insAlaThr) c.2481_2486dup (p.Thr829_Gly830insAlaThr) c.2241+348_2241+353dup (n.2241+348_2241+353dup) c.2205+348_2205+353dup (n.2205+348_2205+353dup) c.2511_2516dup (p.Thr839_Gly840insAlaThr) c.2133+348_2133+353dup (n.2133+348_2133+353dup) c.1680-5855_1680-5850dup (n.1680-5855_1680-5850dup) c.2607_2612dup (p.Thr871_Gly872insAlaThr) c.2673_2678dup (p.Thr893_Gly894insAlaThr) c.2670_2675dup (p.Thr892_Gly893insAlaThr) c.2643_2648dup (p.Thr883_Gly884insAlaThr) c.2589_2594dup (p.Thr865_Gly866insAlaThr) c.2562_2567dup (p.Thr856_Gly857insAlaThr) c.2547_2552dup (p.Thr851_Gly852insAlaThr) c.2154_2159dup (p.Thr720_Gly721insAlaThr) c.2616_2621dup (p.Thr874_Gly875insAlaThr) c.2553_2558dup (p.Thr853_Gly854insAlaThr) c.2550_2555dup (p.Thr852_Gly853insAlaThr) c.2508_2513dup (p.Thr838_Gly839insAlaThr) c.1581_1586dup (p.Thr529_Gly530insAlaThr) | |
20 | g.63406694T>A | CA409636513 | KCNQ2 | c.2623A>T (p.Thr875Ser) c.2569A>T (p.Thr857Ser) c.1966A>T (p.Thr656Ser) c.2476A>T (p.Thr826Ser) c.2137A>T (p.Thr713Ser) c.2485A>T (p.Thr829Ser) c.2241+352A>T (n.2241+352A>T) c.2205+352A>T (n.2205+352A>T) c.2515A>T (p.Thr839Ser) c.2133+352A>T (n.2133+352A>T) c.1680-5851A>T (n.1680-5851A>T) c.2611A>T (p.Thr871Ser) c.2677A>T (p.Thr893Ser) c.2674A>T (p.Thr892Ser) c.2647A>T (p.Thr883Ser) c.2593A>T (p.Thr865Ser) c.2566A>T (p.Thr856Ser) c.2551A>T (p.Thr851Ser) c.2158A>T (p.Thr720Ser) c.2620A>T (p.Thr874Ser) c.2557A>T (p.Thr853Ser) c.2554A>T (p.Thr852Ser) c.2512A>T (p.Thr838Ser) c.1585A>T (p.Thr529Ser) | |
20 | g.63406694T>C | CA409636515 | KCNQ2 | c.2623A>G (p.Thr875Ala) c.2569A>G (p.Thr857Ala) c.1966A>G (p.Thr656Ala) c.2476A>G (p.Thr826Ala) c.2137A>G (p.Thr713Ala) c.2485A>G (p.Thr829Ala) c.2241+352A>G (n.2241+352A>G) c.2205+352A>G (n.2205+352A>G) c.2515A>G (p.Thr839Ala) c.2133+352A>G (n.2133+352A>G) c.1680-5851A>G (n.1680-5851A>G) c.2611A>G (p.Thr871Ala) c.2677A>G (p.Thr893Ala) c.2674A>G (p.Thr892Ala) c.2647A>G (p.Thr883Ala) c.2593A>G (p.Thr865Ala) c.2566A>G (p.Thr856Ala) c.2551A>G (p.Thr851Ala) c.2158A>G (p.Thr720Ala) c.2620A>G (p.Thr874Ala) c.2557A>G (p.Thr853Ala) c.2554A>G (p.Thr852Ala) c.2512A>G (p.Thr838Ala) c.1585A>G (p.Thr529Ala) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63406694T>G | CA409636516 | KCNQ2 | c.2623A>C (p.Thr875Pro) c.2569A>C (p.Thr857Pro) c.1966A>C (p.Thr656Pro) c.2476A>C (p.Thr826Pro) c.2137A>C (p.Thr713Pro) c.2485A>C (p.Thr829Pro) c.2241+352A>C (n.2241+352A>C) c.2205+352A>C (n.2205+352A>C) c.2515A>C (p.Thr839Pro) c.2133+352A>C (n.2133+352A>C) c.1680-5851A>C (n.1680-5851A>C) c.2611A>C (p.Thr871Pro) c.2677A>C (p.Thr893Pro) c.2674A>C (p.Thr892Pro) c.2647A>C (p.Thr883Pro) c.2593A>C (p.Thr865Pro) c.2566A>C (p.Thr856Pro) c.2551A>C (p.Thr851Pro) c.2158A>C (p.Thr720Pro) c.2620A>C (p.Thr874Pro) c.2557A>C (p.Thr853Pro) c.2554A>C (p.Thr852Pro) c.2512A>C (p.Thr838Pro) c.1585A>C (p.Thr529Pro) | gnomAD v4 |
20 | g.63406694T= | CA2374774198 | KCNQ2 | c.2623A= (p.Thr875=) c.2569A= (p.Thr857=) c.1966A= (p.Thr656=) c.2476A= (p.Thr826=) c.2137A= (p.Thr713=) c.2485A= (p.Thr829=) c.2241+352A= (n.2241+352A=) c.2205+352A= (n.2205+352A=) c.2515A= (p.Thr839=) c.2133+352A= (n.2133+352A=) c.1680-5851A= (n.1680-5851A=) c.2611A= (p.Thr871=) c.2677A= (p.Thr893=) c.2674A= (p.Thr892=) c.2647A= (p.Thr883=) c.2593A= (p.Thr865=) c.2566A= (p.Thr856=) c.2551A= (p.Thr851=) c.2158A= (p.Thr720=) c.2620A= (p.Thr874=) c.2557A= (p.Thr853=) c.2554A= (p.Thr852=) c.2512A= (p.Thr838=) c.1585A= (p.Thr529=) | |
20 | g.63406695G>A | CA511339196 | KCNQ2 | c.2622C>T (p.Ala874=) c.2568C>T (p.Ala856=) c.1965C>T (p.Ala655=) c.2475C>T (p.Ala825=) c.2136C>T (p.Ala712=) c.2484C>T (p.Ala828=) c.2241+351C>T (n.2241+351C>T) c.2205+351C>T (n.2205+351C>T) c.2514C>T (p.Ala838=) c.2133+351C>T (n.2133+351C>T) c.1680-5852C>T (n.1680-5852C>T) c.2610C>T (p.Ala870=) c.2676C>T (p.Ala892=) c.2673C>T (p.Ala891=) c.2646C>T (p.Ala882=) c.2592C>T (p.Ala864=) c.2565C>T (p.Ala855=) c.2550C>T (p.Ala850=) c.2157C>T (p.Ala719=) c.2619C>T (p.Ala873=) c.2556C>T (p.Ala852=) c.2553C>T (p.Ala851=) c.2511C>T (p.Ala837=) c.1584C>T (p.Ala528=) | gnomAD v4 |
20 | g.63406695G>C | CA511339197 | KCNQ2 | c.2622C>G (p.Ala874=) c.2568C>G (p.Ala856=) c.1965C>G (p.Ala655=) c.2475C>G (p.Ala825=) c.2136C>G (p.Ala712=) c.2484C>G (p.Ala828=) c.2241+351C>G (n.2241+351C>G) c.2205+351C>G (n.2205+351C>G) c.2514C>G (p.Ala838=) c.2133+351C>G (n.2133+351C>G) c.1680-5852C>G (n.1680-5852C>G) c.2610C>G (p.Ala870=) c.2676C>G (p.Ala892=) c.2673C>G (p.Ala891=) c.2646C>G (p.Ala882=) c.2592C>G (p.Ala864=) c.2565C>G (p.Ala855=) c.2550C>G (p.Ala850=) c.2157C>G (p.Ala719=) c.2619C>G (p.Ala873=) c.2556C>G (p.Ala852=) c.2553C>G (p.Ala851=) c.2511C>G (p.Ala837=) c.1584C>G (p.Ala528=) | |
20 | g.63406695G>T | CA511339198 | KCNQ2 | c.2622C>A (p.Ala874=) c.2568C>A (p.Ala856=) c.1965C>A (p.Ala655=) c.2475C>A (p.Ala825=) c.2136C>A (p.Ala712=) c.2484C>A (p.Ala828=) c.2241+351C>A (n.2241+351C>A) c.2205+351C>A (n.2205+351C>A) c.2514C>A (p.Ala838=) c.2133+351C>A (n.2133+351C>A) c.1680-5852C>A (n.1680-5852C>A) c.2610C>A (p.Ala870=) c.2676C>A (p.Ala892=) c.2673C>A (p.Ala891=) c.2646C>A (p.Ala882=) c.2592C>A (p.Ala864=) c.2565C>A (p.Ala855=) c.2550C>A (p.Ala850=) c.2157C>A (p.Ala719=) c.2619C>A (p.Ala873=) c.2556C>A (p.Ala852=) c.2553C>A (p.Ala851=) c.2511C>A (p.Ala837=) c.1584C>A (p.Ala528=) | |
20 | g.63406696G>A | CA409636519 | KCNQ2 | c.2621C>T (p.Ala874Val) c.2567C>T (p.Ala856Val) c.1964C>T (p.Ala655Val) c.2474C>T (p.Ala825Val) c.2135C>T (p.Ala712Val) c.2483C>T (p.Ala828Val) c.2241+350C>T (n.2241+350C>T) c.2205+350C>T (n.2205+350C>T) c.2513C>T (p.Ala838Val) c.2133+350C>T (n.2133+350C>T) c.1680-5853C>T (n.1680-5853C>T) c.2609C>T (p.Ala870Val) c.2675C>T (p.Ala892Val) c.2672C>T (p.Ala891Val) c.2645C>T (p.Ala882Val) c.2591C>T (p.Ala864Val) c.2564C>T (p.Ala855Val) c.2549C>T (p.Ala850Val) c.2156C>T (p.Ala719Val) c.2618C>T (p.Ala873Val) c.2555C>T (p.Ala852Val) c.2552C>T (p.Ala851Val) c.2510C>T (p.Ala837Val) c.1583C>T (p.Ala528Val) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406696G>C | CA409636521 | KCNQ2 | c.2621C>G (p.Ala874Gly) c.2567C>G (p.Ala856Gly) c.1964C>G (p.Ala655Gly) c.2474C>G (p.Ala825Gly) c.2135C>G (p.Ala712Gly) c.2483C>G (p.Ala828Gly) c.2241+350C>G (n.2241+350C>G) c.2205+350C>G (n.2205+350C>G) c.2513C>G (p.Ala838Gly) c.2133+350C>G (n.2133+350C>G) c.1680-5853C>G (n.1680-5853C>G) c.2609C>G (p.Ala870Gly) c.2675C>G (p.Ala892Gly) c.2672C>G (p.Ala891Gly) c.2645C>G (p.Ala882Gly) c.2591C>G (p.Ala864Gly) c.2564C>G (p.Ala855Gly) c.2549C>G (p.Ala850Gly) c.2156C>G (p.Ala719Gly) c.2618C>G (p.Ala873Gly) c.2555C>G (p.Ala852Gly) c.2552C>G (p.Ala851Gly) c.2510C>G (p.Ala837Gly) c.1583C>G (p.Ala528Gly) | gnomAD v4 |
20 | g.63406696G= | CA2374774199 | KCNQ2 | c.2621C= (p.Ala874=) c.2567C= (p.Ala856=) c.1964C= (p.Ala655=) c.2474C= (p.Ala825=) c.2135C= (p.Ala712=) c.2483C= (p.Ala828=) c.2241+350C= (n.2241+350C=) c.2205+350C= (n.2205+350C=) c.2513C= (p.Ala838=) c.2133+350C= (n.2133+350C=) c.1680-5853C= (n.1680-5853C=) c.2609C= (p.Ala870=) c.2675C= (p.Ala892=) c.2672C= (p.Ala891=) c.2645C= (p.Ala882=) c.2591C= (p.Ala864=) c.2564C= (p.Ala855=) c.2549C= (p.Ala850=) c.2156C= (p.Ala719=) c.2618C= (p.Ala873=) c.2555C= (p.Ala852=) c.2552C= (p.Ala851=) c.2510C= (p.Ala837=) c.1583C= (p.Ala528=) | |
20 | g.63406696G>T | CA409636523 | KCNQ2 | c.2621C>A (p.Ala874Asp) c.2567C>A (p.Ala856Asp) c.1964C>A (p.Ala655Asp) c.2474C>A (p.Ala825Asp) c.2135C>A (p.Ala712Asp) c.2483C>A (p.Ala828Asp) c.2241+350C>A (n.2241+350C>A) c.2205+350C>A (n.2205+350C>A) c.2513C>A (p.Ala838Asp) c.2133+350C>A (n.2133+350C>A) c.1680-5853C>A (n.1680-5853C>A) c.2609C>A (p.Ala870Asp) c.2675C>A (p.Ala892Asp) c.2672C>A (p.Ala891Asp) c.2645C>A (p.Ala882Asp) c.2591C>A (p.Ala864Asp) c.2564C>A (p.Ala855Asp) c.2549C>A (p.Ala850Asp) c.2156C>A (p.Ala719Asp) c.2618C>A (p.Ala873Asp) c.2555C>A (p.Ala852Asp) c.2552C>A (p.Ala851Asp) c.2510C>A (p.Ala837Asp) c.1583C>A (p.Ala528Asp) | gnomAD v4 |
20 | g.63406697C>A | CA409636526 | KCNQ2 | c.2620G>T (p.Ala874Ser) c.2566G>T (p.Ala856Ser) c.1963G>T (p.Ala655Ser) c.2473G>T (p.Ala825Ser) c.2134G>T (p.Ala712Ser) c.2482G>T (p.Ala828Ser) c.2241+349G>T (n.2241+349G>T) c.2205+349G>T (n.2205+349G>T) c.2512G>T (p.Ala838Ser) c.2133+349G>T (n.2133+349G>T) c.1680-5854G>T (n.1680-5854G>T) c.2608G>T (p.Ala870Ser) c.2674G>T (p.Ala892Ser) c.2671G>T (p.Ala891Ser) c.2644G>T (p.Ala882Ser) c.2590G>T (p.Ala864Ser) c.2563G>T (p.Ala855Ser) c.2548G>T (p.Ala850Ser) c.2155G>T (p.Ala719Ser) c.2617G>T (p.Ala873Ser) c.2554G>T (p.Ala852Ser) c.2551G>T (p.Ala851Ser) c.2509G>T (p.Ala837Ser) c.1582G>T (p.Ala528Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406697C= | CA2374774200 | KCNQ2 | c.2620G= (p.Ala874=) c.2566G= (p.Ala856=) c.1963G= (p.Ala655=) c.2473G= (p.Ala825=) c.2134G= (p.Ala712=) c.2482G= (p.Ala828=) c.2241+349G= (n.2241+349G=) c.2205+349G= (n.2205+349G=) c.2512G= (p.Ala838=) c.2133+349G= (n.2133+349G=) c.1680-5854G= (n.1680-5854G=) c.2608G= (p.Ala870=) c.2674G= (p.Ala892=) c.2671G= (p.Ala891=) c.2644G= (p.Ala882=) c.2590G= (p.Ala864=) c.2563G= (p.Ala855=) c.2548G= (p.Ala850=) c.2155G= (p.Ala719=) c.2617G= (p.Ala873=) c.2554G= (p.Ala852=) c.2551G= (p.Ala851=) c.2509G= (p.Ala837=) c.1582G= (p.Ala528=) | |
20 | g.63406697C>G | CA409636527 | KCNQ2 | c.2620G>C (p.Ala874Pro) c.2566G>C (p.Ala856Pro) c.1963G>C (p.Ala655Pro) c.2473G>C (p.Ala825Pro) c.2134G>C (p.Ala712Pro) c.2482G>C (p.Ala828Pro) c.2241+349G>C (n.2241+349G>C) c.2205+349G>C (n.2205+349G>C) c.2512G>C (p.Ala838Pro) c.2133+349G>C (n.2133+349G>C) c.1680-5854G>C (n.1680-5854G>C) c.2608G>C (p.Ala870Pro) c.2674G>C (p.Ala892Pro) c.2671G>C (p.Ala891Pro) c.2644G>C (p.Ala882Pro) c.2590G>C (p.Ala864Pro) c.2563G>C (p.Ala855Pro) c.2548G>C (p.Ala850Pro) c.2155G>C (p.Ala719Pro) c.2617G>C (p.Ala873Pro) c.2554G>C (p.Ala852Pro) c.2551G>C (p.Ala851Pro) c.2509G>C (p.Ala837Pro) c.1582G>C (p.Ala528Pro) | ClinVar |
20 | g.63406697C>T | CA409636525 | KCNQ2 | c.2620G>A (p.Ala874Thr) c.2566G>A (p.Ala856Thr) c.1963G>A (p.Ala655Thr) c.2473G>A (p.Ala825Thr) c.2134G>A (p.Ala712Thr) c.2482G>A (p.Ala828Thr) c.2241+349G>A (n.2241+349G>A) c.2205+349G>A (n.2205+349G>A) c.2512G>A (p.Ala838Thr) c.2133+349G>A (n.2133+349G>A) c.1680-5854G>A (n.1680-5854G>A) c.2608G>A (p.Ala870Thr) c.2674G>A (p.Ala892Thr) c.2671G>A (p.Ala891Thr) c.2644G>A (p.Ala882Thr) c.2590G>A (p.Ala864Thr) c.2563G>A (p.Ala855Thr) c.2548G>A (p.Ala850Thr) c.2155G>A (p.Ala719Thr) c.2617G>A (p.Ala873Thr) c.2554G>A (p.Ala852Thr) c.2551G>A (p.Ala851Thr) c.2509G>A (p.Ala837Thr) c.1582G>A (p.Ala528Thr) | gnomAD v4 |
20 | g.63406697_63406727delinsCCGAGCGTGGCGGGGGCCCGCACGGGGTACA | CA2374774201 | KCNQ2 | c.2590_2620delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys864=) c.2536_2566delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys846=) c.1933_1963delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys645=) c.2443_2473delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys815=) c.2104_2134delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys702=) c.2452_2482delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys818=) c.2241+319_2241+349delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (n.2241+319_2241+349delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG) c.2205+319_2205+349delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (n.2205+319_2205+349delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG) c.2482_2512delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys828=) c.2133+319_2133+349delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (n.2133+319_2133+349delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG) c.1680-5884_1680-5854delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (n.1680-5884_1680-5854delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG) c.2578_2608delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys860=) c.2644_2674delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys882=) c.2641_2671delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys881=) c.2614_2644delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys872=) c.2560_2590delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys854=) c.2533_2563delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys845=) c.2518_2548delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys840=) c.2125_2155delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys709=) c.2587_2617delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys863=) c.2524_2554delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys842=) c.2521_2551delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys841=) c.2479_2509delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys827=) c.1552_1582delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys518=) | |
20 | g.63406698C>A | CA511339199 | KCNQ2 | c.2619G>T (p.Ser873=) c.2565G>T (p.Ser855=) c.1962G>T (p.Ser654=) c.2472G>T (p.Ser824=) c.2133G>T (p.Ser711=) c.2481G>T (p.Ser827=) c.2241+348G>T (n.2241+348G>T) c.2205+348G>T (n.2205+348G>T) c.2511G>T (p.Ser837=) c.2133+348G>T (n.2133+348G>T) c.1680-5855G>T (n.1680-5855G>T) c.2607G>T (p.Ser869=) c.2673G>T (p.Ser891=) c.2670G>T (p.Ser890=) c.2643G>T (p.Ser881=) c.2589G>T (p.Ser863=) c.2562G>T (p.Ser854=) c.2547G>T (p.Ser849=) c.2154G>T (p.Ser718=) c.2616G>T (p.Ser872=) c.2553G>T (p.Ser851=) c.2550G>T (p.Ser850=) c.2508G>T (p.Ser836=) c.1581G>T (p.Ser527=) | gnomAD v4 |
20 | g.63406698C= | CA2374774203 | KCNQ2 | c.2619G= (p.Ser873=) c.2565G= (p.Ser855=) c.1962G= (p.Ser654=) c.2472G= (p.Ser824=) c.2133G= (p.Ser711=) c.2481G= (p.Ser827=) c.2241+348G= (n.2241+348G=) c.2205+348G= (n.2205+348G=) c.2511G= (p.Ser837=) c.2133+348G= (n.2133+348G=) c.1680-5855G= (n.1680-5855G=) c.2607G= (p.Ser869=) c.2673G= (p.Ser891=) c.2670G= (p.Ser890=) c.2643G= (p.Ser881=) c.2589G= (p.Ser863=) c.2562G= (p.Ser854=) c.2547G= (p.Ser849=) c.2154G= (p.Ser718=) c.2616G= (p.Ser872=) c.2553G= (p.Ser851=) c.2550G= (p.Ser850=) c.2508G= (p.Ser836=) c.1581G= (p.Ser527=) | |
20 | g.63406698C>G | CA511339200 | KCNQ2 | c.2619G>C (p.Ser873=) c.2565G>C (p.Ser855=) c.1962G>C (p.Ser654=) c.2472G>C (p.Ser824=) c.2133G>C (p.Ser711=) c.2481G>C (p.Ser827=) c.2241+348G>C (n.2241+348G>C) c.2205+348G>C (n.2205+348G>C) c.2511G>C (p.Ser837=) c.2133+348G>C (n.2133+348G>C) c.1680-5855G>C (n.1680-5855G>C) c.2607G>C (p.Ser869=) c.2673G>C (p.Ser891=) c.2670G>C (p.Ser890=) c.2643G>C (p.Ser881=) c.2589G>C (p.Ser863=) c.2562G>C (p.Ser854=) c.2547G>C (p.Ser849=) c.2154G>C (p.Ser718=) c.2616G>C (p.Ser872=) c.2553G>C (p.Ser851=) c.2550G>C (p.Ser850=) c.2508G>C (p.Ser836=) c.1581G>C (p.Ser527=) | gnomAD v4 |
20 | g.63406698C>T | CA317421559 | KCNQ2 | c.2619G>A (p.Ser873=) c.2565G>A (p.Ser855=) c.1962G>A (p.Ser654=) c.2472G>A (p.Ser824=) c.2133G>A (p.Ser711=) c.2481G>A (p.Ser827=) c.2241+348G>A (n.2241+348G>A) c.2205+348G>A (n.2205+348G>A) c.2511G>A (p.Ser837=) c.2133+348G>A (n.2133+348G>A) c.1680-5855G>A (n.1680-5855G>A) c.2607G>A (p.Ser869=) c.2673G>A (p.Ser891=) c.2670G>A (p.Ser890=) c.2643G>A (p.Ser881=) c.2589G>A (p.Ser863=) c.2562G>A (p.Ser854=) c.2547G>A (p.Ser849=) c.2154G>A (p.Ser718=) c.2616G>A (p.Ser872=) c.2553G>A (p.Ser851=) c.2550G>A (p.Ser850=) c.2508G>A (p.Ser836=) c.1581G>A (p.Ser527=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406698_63406727del | CA2374774202 | KCNQ2 | c.2590_2619del (p.Cys864_Ser873del) c.2536_2565del (p.Cys846_Ser855del) c.1933_1962del (p.Cys645_Ser654del) c.2443_2472del (p.Cys815_Ser824del) c.2104_2133del (p.Cys702_Ser711del) c.2452_2481del (p.Cys818_Ser827del) c.2241+319_2241+348del (n.2241+319_2241+348del) c.2205+319_2205+348del (n.2205+319_2205+348del) c.2482_2511del (p.Cys828_Ser837del) c.2133+319_2133+348del (n.2133+319_2133+348del) c.1680-5884_1680-5855del (n.1680-5884_1680-5855del) c.2578_2607del (p.Cys860_Ser869del) c.2644_2673del (p.Cys882_Ser891del) c.2641_2670del (p.Cys881_Ser890del) c.2614_2643del (p.Cys872_Ser881del) c.2560_2589del (p.Cys854_Ser863del) c.2533_2562del (p.Cys845_Ser854del) c.2518_2547del (p.Cys840_Ser849del) c.2125_2154del (p.Cys709_Ser718del) c.2587_2616del (p.Cys863_Ser872del) c.2524_2553del (p.Cys842_Ser851del) c.2521_2550del (p.Cys841_Ser850del) c.2479_2508del (p.Cys827_Ser836del) c.1552_1581del (p.Cys518_Ser527del) | ClinVar dbSNP |
20 | g.63406699G>A | CA342492 | KCNQ2 | c.2618C>T (p.Ser873Leu) c.2564C>T (p.Ser855Leu) c.1961C>T (p.Ser654Leu) c.2471C>T (p.Ser824Leu) c.2132C>T (p.Ser711Leu) c.2480C>T (p.Ser827Leu) c.2241+347C>T (n.2241+347C>T) c.2205+347C>T (n.2205+347C>T) c.2510C>T (p.Ser837Leu) c.2133+347C>T (n.2133+347C>T) c.1680-5856C>T (n.1680-5856C>T) c.2606C>T (p.Ser869Leu) c.2672C>T (p.Ser891Leu) c.2669C>T (p.Ser890Leu) c.2642C>T (p.Ser881Leu) c.2588C>T (p.Ser863Leu) c.2561C>T (p.Ser854Leu) c.2546C>T (p.Ser849Leu) c.2153C>T (p.Ser718Leu) c.2615C>T (p.Ser872Leu) c.2552C>T (p.Ser851Leu) c.2549C>T (p.Ser850Leu) c.2507C>T (p.Ser836Leu) c.1580C>T (p.Ser527Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406699G>C | CA409636529 | KCNQ2 | c.2618C>G (p.Ser873Trp) c.2564C>G (p.Ser855Trp) c.1961C>G (p.Ser654Trp) c.2471C>G (p.Ser824Trp) c.2132C>G (p.Ser711Trp) c.2480C>G (p.Ser827Trp) c.2241+347C>G (n.2241+347C>G) c.2205+347C>G (n.2205+347C>G) c.2510C>G (p.Ser837Trp) c.2133+347C>G (n.2133+347C>G) c.1680-5856C>G (n.1680-5856C>G) c.2606C>G (p.Ser869Trp) c.2672C>G (p.Ser891Trp) c.2669C>G (p.Ser890Trp) c.2642C>G (p.Ser881Trp) c.2588C>G (p.Ser863Trp) c.2561C>G (p.Ser854Trp) c.2546C>G (p.Ser849Trp) c.2153C>G (p.Ser718Trp) c.2615C>G (p.Ser872Trp) c.2552C>G (p.Ser851Trp) c.2549C>G (p.Ser850Trp) c.2507C>G (p.Ser836Trp) c.1580C>G (p.Ser527Trp) | |
20 | g.63406699G= | CA2374774204 | KCNQ2 | c.2618C= (p.Ser873=) c.2564C= (p.Ser855=) c.1961C= (p.Ser654=) c.2471C= (p.Ser824=) c.2132C= (p.Ser711=) c.2480C= (p.Ser827=) c.2241+347C= (n.2241+347C=) c.2205+347C= (n.2205+347C=) c.2510C= (p.Ser837=) c.2133+347C= (n.2133+347C=) c.1680-5856C= (n.1680-5856C=) c.2606C= (p.Ser869=) c.2672C= (p.Ser891=) c.2669C= (p.Ser890=) c.2642C= (p.Ser881=) c.2588C= (p.Ser863=) c.2561C= (p.Ser854=) c.2546C= (p.Ser849=) c.2153C= (p.Ser718=) c.2615C= (p.Ser872=) c.2552C= (p.Ser851=) c.2549C= (p.Ser850=) c.2507C= (p.Ser836=) c.1580C= (p.Ser527=) | |
20 | g.63406699G>T | CA409636531 | KCNQ2 | c.2618C>A (p.Ser873Ter) c.2564C>A (p.Ser855Ter) c.1961C>A (p.Ser654Ter) c.2471C>A (p.Ser824Ter) c.2132C>A (p.Ser711Ter) c.2480C>A (p.Ser827Ter) c.2241+347C>A (n.2241+347C>A) c.2205+347C>A (n.2205+347C>A) c.2510C>A (p.Ser837Ter) c.2133+347C>A (n.2133+347C>A) c.1680-5856C>A (n.1680-5856C>A) c.2606C>A (p.Ser869Ter) c.2672C>A (p.Ser891Ter) c.2669C>A (p.Ser890Ter) c.2642C>A (p.Ser881Ter) c.2588C>A (p.Ser863Ter) c.2561C>A (p.Ser854Ter) c.2546C>A (p.Ser849Ter) c.2153C>A (p.Ser718Ter) c.2615C>A (p.Ser872Ter) c.2552C>A (p.Ser851Ter) c.2549C>A (p.Ser850Ter) c.2507C>A (p.Ser836Ter) c.1580C>A (p.Ser527Ter) | gnomAD v4 |
20 | g.63406700A>C | CA409636534 | KCNQ2 | c.2617T>G (p.Ser873Ala) c.2563T>G (p.Ser855Ala) c.1960T>G (p.Ser654Ala) c.2470T>G (p.Ser824Ala) c.2131T>G (p.Ser711Ala) c.2479T>G (p.Ser827Ala) c.2241+346T>G (n.2241+346T>G) c.2205+346T>G (n.2205+346T>G) c.2509T>G (p.Ser837Ala) c.2133+346T>G (n.2133+346T>G) c.1680-5857T>G (n.1680-5857T>G) c.2605T>G (p.Ser869Ala) c.2671T>G (p.Ser891Ala) c.2668T>G (p.Ser890Ala) c.2641T>G (p.Ser881Ala) c.2587T>G (p.Ser863Ala) c.2560T>G (p.Ser854Ala) c.2545T>G (p.Ser849Ala) c.2152T>G (p.Ser718Ala) c.2614T>G (p.Ser872Ala) c.2551T>G (p.Ser851Ala) c.2548T>G (p.Ser850Ala) c.2506T>G (p.Ser836Ala) c.1579T>G (p.Ser527Ala) | |
20 | g.63406700A>G | CA409636538 | KCNQ2 | c.2617T>C (p.Ser873Pro) c.2563T>C (p.Ser855Pro) c.1960T>C (p.Ser654Pro) c.2470T>C (p.Ser824Pro) c.2131T>C (p.Ser711Pro) c.2479T>C (p.Ser827Pro) c.2241+346T>C (n.2241+346T>C) c.2205+346T>C (n.2205+346T>C) c.2509T>C (p.Ser837Pro) c.2133+346T>C (n.2133+346T>C) c.1680-5857T>C (n.1680-5857T>C) c.2605T>C (p.Ser869Pro) c.2671T>C (p.Ser891Pro) c.2668T>C (p.Ser890Pro) c.2641T>C (p.Ser881Pro) c.2587T>C (p.Ser863Pro) c.2560T>C (p.Ser854Pro) c.2545T>C (p.Ser849Pro) c.2152T>C (p.Ser718Pro) c.2614T>C (p.Ser872Pro) c.2551T>C (p.Ser851Pro) c.2548T>C (p.Ser850Pro) c.2506T>C (p.Ser836Pro) c.1579T>C (p.Ser527Pro) | |
20 | g.63406700A>T | CA409636536 | KCNQ2 | c.2617T>A (p.Ser873Thr) c.2563T>A (p.Ser855Thr) c.1960T>A (p.Ser654Thr) c.2470T>A (p.Ser824Thr) c.2131T>A (p.Ser711Thr) c.2479T>A (p.Ser827Thr) c.2241+346T>A (n.2241+346T>A) c.2205+346T>A (n.2205+346T>A) c.2509T>A (p.Ser837Thr) c.2133+346T>A (n.2133+346T>A) c.1680-5857T>A (n.1680-5857T>A) c.2605T>A (p.Ser869Thr) c.2671T>A (p.Ser891Thr) c.2668T>A (p.Ser890Thr) c.2641T>A (p.Ser881Thr) c.2587T>A (p.Ser863Thr) c.2560T>A (p.Ser854Thr) c.2545T>A (p.Ser849Thr) c.2152T>A (p.Ser718Thr) c.2614T>A (p.Ser872Thr) c.2551T>A (p.Ser851Thr) c.2548T>A (p.Ser850Thr) c.2506T>A (p.Ser836Thr) c.1579T>A (p.Ser527Thr) | |
20 | g.63406701_63406702insGCAG | CA2520686347 | KCNQ2 | c.2617_2618insGCCT (p.Ser873CysfsTer11) c.2563_2564insGCCT (p.Ser855CysfsTer11) c.1960_1961insGCCT (p.Ser654CysfsTer11) c.2470_2471insGCCT (p.Ser824CysfsTer11) c.2131_2132insGCCT (p.Ser711CysfsTer11) c.2479_2480insGCCT (p.Ser827CysfsTer11) c.2241+346_2241+347insGCCT (n.2241+346_2241+347insGCCT) c.2205+346_2205+347insGCCT (n.2205+346_2205+347insGCCT) c.2509_2510insGCCT (p.Ser837CysfsTer11) c.2133+346_2133+347insGCCT (n.2133+346_2133+347insGCCT) c.1680-5857_1680-5856insGCCT (n.1680-5857_1680-5856insGCCT) c.2605_2606insGCCT (p.Ser869CysfsTer11) c.2671_2672insGCCT (p.Ser891CysfsTer11) c.2668_2669insGCCT (p.Ser890CysfsTer11) c.2641_2642insGCCT (p.Ser881CysfsTer11) c.2587_2588insGCCT (p.Ser863CysfsTer11) c.2560_2561insGCCT (p.Ser854CysfsTer11) c.2545_2546insGCCT (p.Ser849CysfsTer11) c.2152_2153insGCCT (p.Ser718CysfsTer11) c.2614_2615insGCCT (p.Ser872CysfsTer11) c.2551_2552insGCCT (p.Ser851CysfsTer11) c.2548_2549insGCCT (p.Ser850CysfsTer11) c.2506_2507insGCCT (p.Ser836CysfsTer11) c.1579_1580insGCCT (p.Ser527CysfsTer11) | |
20 | g.63406701G>A | CA511339201 | KCNQ2 | c.2616C>T (p.Arg872=) c.2562C>T (p.Arg854=) c.1959C>T (p.Arg653=) c.2469C>T (p.Arg823=) c.2130C>T (p.Arg710=) c.2478C>T (p.Arg826=) c.2241+345C>T (n.2241+345C>T) c.2205+345C>T (n.2205+345C>T) c.2508C>T (p.Arg836=) c.2133+345C>T (n.2133+345C>T) c.1680-5858C>T (n.1680-5858C>T) c.2604C>T (p.Arg868=) c.2670C>T (p.Arg890=) c.2667C>T (p.Arg889=) c.2640C>T (p.Arg880=) c.2586C>T (p.Arg862=) c.2559C>T (p.Arg853=) c.2544C>T (p.Arg848=) c.2151C>T (p.Arg717=) c.2613C>T (p.Arg871=) c.2550C>T (p.Arg850=) c.2547C>T (p.Arg849=) c.2505C>T (p.Arg835=) c.1578C>T (p.Arg526=) | dbSNP |
20 | g.63406701G>C | CA511339202 | KCNQ2 | c.2616C>G (p.Arg872=) c.2562C>G (p.Arg854=) c.1959C>G (p.Arg653=) c.2469C>G (p.Arg823=) c.2130C>G (p.Arg710=) c.2478C>G (p.Arg826=) c.2241+345C>G (n.2241+345C>G) c.2205+345C>G (n.2205+345C>G) c.2508C>G (p.Arg836=) c.2133+345C>G (n.2133+345C>G) c.1680-5858C>G (n.1680-5858C>G) c.2604C>G (p.Arg868=) c.2670C>G (p.Arg890=) c.2667C>G (p.Arg889=) c.2640C>G (p.Arg880=) c.2586C>G (p.Arg862=) c.2559C>G (p.Arg853=) c.2544C>G (p.Arg848=) c.2151C>G (p.Arg717=) c.2613C>G (p.Arg871=) c.2550C>G (p.Arg850=) c.2547C>G (p.Arg849=) c.2505C>G (p.Arg835=) c.1578C>G (p.Arg526=) | |
20 | g.63406701G= | CA2374774205 | KCNQ2 | c.2616C= (p.Arg872=) c.2562C= (p.Arg854=) c.1959C= (p.Arg653=) c.2469C= (p.Arg823=) c.2130C= (p.Arg710=) c.2478C= (p.Arg826=) c.2241+345C= (n.2241+345C=) c.2205+345C= (n.2205+345C=) c.2508C= (p.Arg836=) c.2133+345C= (n.2133+345C=) c.1680-5858C= (n.1680-5858C=) c.2604C= (p.Arg868=) c.2670C= (p.Arg890=) c.2667C= (p.Arg889=) c.2640C= (p.Arg880=) c.2586C= (p.Arg862=) c.2559C= (p.Arg853=) c.2544C= (p.Arg848=) c.2151C= (p.Arg717=) c.2613C= (p.Arg871=) c.2550C= (p.Arg850=) c.2547C= (p.Arg849=) c.2505C= (p.Arg835=) c.1578C= (p.Arg526=) | |
20 | g.63406701G>T | CA511339203 | KCNQ2 | c.2616C>A (p.Arg872=) c.2562C>A (p.Arg854=) c.1959C>A (p.Arg653=) c.2469C>A (p.Arg823=) c.2130C>A (p.Arg710=) c.2478C>A (p.Arg826=) c.2241+345C>A (n.2241+345C>A) c.2205+345C>A (n.2205+345C>A) c.2508C>A (p.Arg836=) c.2133+345C>A (n.2133+345C>A) c.1680-5858C>A (n.1680-5858C>A) c.2604C>A (p.Arg868=) c.2670C>A (p.Arg890=) c.2667C>A (p.Arg889=) c.2640C>A (p.Arg880=) c.2586C>A (p.Arg862=) c.2559C>A (p.Arg853=) c.2544C>A (p.Arg848=) c.2151C>A (p.Arg717=) c.2613C>A (p.Arg871=) c.2550C>A (p.Arg850=) c.2547C>A (p.Arg849=) c.2505C>A (p.Arg835=) c.1578C>A (p.Arg526=) | gnomAD v4 |
20 | g.63406702C>A | CA409636540 | KCNQ2 | c.2615G>T (p.Arg872Leu) c.2561G>T (p.Arg854Leu) c.1958G>T (p.Arg653Leu) c.2468G>T (p.Arg823Leu) c.2129G>T (p.Arg710Leu) c.2477G>T (p.Arg826Leu) c.2241+344G>T (n.2241+344G>T) c.2205+344G>T (n.2205+344G>T) c.2507G>T (p.Arg836Leu) c.2133+344G>T (n.2133+344G>T) c.1680-5859G>T (n.1680-5859G>T) c.2603G>T (p.Arg868Leu) c.2669G>T (p.Arg890Leu) c.2666G>T (p.Arg889Leu) c.2639G>T (p.Arg880Leu) c.2585G>T (p.Arg862Leu) c.2558G>T (p.Arg853Leu) c.2543G>T (p.Arg848Leu) c.2150G>T (p.Arg717Leu) c.2612G>T (p.Arg871Leu) c.2549G>T (p.Arg850Leu) c.2546G>T (p.Arg849Leu) c.2504G>T (p.Arg835Leu) c.1577G>T (p.Arg526Leu) | ClinVar dbSNP gnomAD v4 |
20 | g.63406702C= | CA2374774206 | KCNQ2 | c.2615G= (p.Arg872=) c.2561G= (p.Arg854=) c.1958G= (p.Arg653=) c.2468G= (p.Arg823=) c.2129G= (p.Arg710=) c.2477G= (p.Arg826=) c.2241+344G= (n.2241+344G=) c.2205+344G= (n.2205+344G=) c.2507G= (p.Arg836=) c.2133+344G= (n.2133+344G=) c.1680-5859G= (n.1680-5859G=) c.2603G= (p.Arg868=) c.2669G= (p.Arg890=) c.2666G= (p.Arg889=) c.2639G= (p.Arg880=) c.2585G= (p.Arg862=) c.2558G= (p.Arg853=) c.2543G= (p.Arg848=) c.2150G= (p.Arg717=) c.2612G= (p.Arg871=) c.2549G= (p.Arg850=) c.2546G= (p.Arg849=) c.2504G= (p.Arg835=) c.1577G= (p.Arg526=) | |
20 | g.63406702C>G | CA409636544 | KCNQ2 | c.2615G>C (p.Arg872Pro) c.2561G>C (p.Arg854Pro) c.1958G>C (p.Arg653Pro) c.2468G>C (p.Arg823Pro) c.2129G>C (p.Arg710Pro) c.2477G>C (p.Arg826Pro) c.2241+344G>C (n.2241+344G>C) c.2205+344G>C (n.2205+344G>C) c.2507G>C (p.Arg836Pro) c.2133+344G>C (n.2133+344G>C) c.1680-5859G>C (n.1680-5859G>C) c.2603G>C (p.Arg868Pro) c.2669G>C (p.Arg890Pro) c.2666G>C (p.Arg889Pro) c.2639G>C (p.Arg880Pro) c.2585G>C (p.Arg862Pro) c.2558G>C (p.Arg853Pro) c.2543G>C (p.Arg848Pro) c.2150G>C (p.Arg717Pro) c.2612G>C (p.Arg871Pro) c.2549G>C (p.Arg850Pro) c.2546G>C (p.Arg849Pro) c.2504G>C (p.Arg835Pro) c.1577G>C (p.Arg526Pro) | dbSNP gnomAD v4 |
20 | g.63406702C>T | CA409636542 | KCNQ2 | c.2615G>A (p.Arg872His) c.2561G>A (p.Arg854His) c.1958G>A (p.Arg653His) c.2468G>A (p.Arg823His) c.2129G>A (p.Arg710His) c.2477G>A (p.Arg826His) c.2241+344G>A (n.2241+344G>A) c.2205+344G>A (n.2205+344G>A) c.2507G>A (p.Arg836His) c.2133+344G>A (n.2133+344G>A) c.1680-5859G>A (n.1680-5859G>A) c.2603G>A (p.Arg868His) c.2669G>A (p.Arg890His) c.2666G>A (p.Arg889His) c.2639G>A (p.Arg880His) c.2585G>A (p.Arg862His) c.2558G>A (p.Arg853His) c.2543G>A (p.Arg848His) c.2150G>A (p.Arg717His) c.2612G>A (p.Arg871His) c.2549G>A (p.Arg850His) c.2546G>A (p.Arg849His) c.2504G>A (p.Arg835His) c.1577G>A (p.Arg526His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.63406703G>A | CA9958057 | KCNQ2 | c.2614C>T (p.Arg872Cys) c.2560C>T (p.Arg854Cys) c.1957C>T (p.Arg653Cys) c.2467C>T (p.Arg823Cys) c.2128C>T (p.Arg710Cys) c.2476C>T (p.Arg826Cys) c.2241+343C>T (n.2241+343C>T) c.2205+343C>T (n.2205+343C>T) c.2506C>T (p.Arg836Cys) c.2133+343C>T (n.2133+343C>T) c.1680-5860C>T (n.1680-5860C>T) c.2602C>T (p.Arg868Cys) c.2668C>T (p.Arg890Cys) c.2665C>T (p.Arg889Cys) c.2638C>T (p.Arg880Cys) c.2584C>T (p.Arg862Cys) c.2557C>T (p.Arg853Cys) c.2542C>T (p.Arg848Cys) c.2149C>T (p.Arg717Cys) c.2611C>T (p.Arg871Cys) c.2548C>T (p.Arg850Cys) c.2545C>T (p.Arg849Cys) c.2503C>T (p.Arg835Cys) c.1576C>T (p.Arg526Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406703G>C | CA409636548 | KCNQ2 | c.2614C>G (p.Arg872Gly) c.2560C>G (p.Arg854Gly) c.1957C>G (p.Arg653Gly) c.2467C>G (p.Arg823Gly) c.2128C>G (p.Arg710Gly) c.2476C>G (p.Arg826Gly) c.2241+343C>G (n.2241+343C>G) c.2205+343C>G (n.2205+343C>G) c.2506C>G (p.Arg836Gly) c.2133+343C>G (n.2133+343C>G) c.1680-5860C>G (n.1680-5860C>G) c.2602C>G (p.Arg868Gly) c.2668C>G (p.Arg890Gly) c.2665C>G (p.Arg889Gly) c.2638C>G (p.Arg880Gly) c.2584C>G (p.Arg862Gly) c.2557C>G (p.Arg853Gly) c.2542C>G (p.Arg848Gly) c.2149C>G (p.Arg717Gly) c.2611C>G (p.Arg871Gly) c.2548C>G (p.Arg850Gly) c.2545C>G (p.Arg849Gly) c.2503C>G (p.Arg835Gly) c.1576C>G (p.Arg526Gly) | |
20 | g.63406703G= | CA2374774207 | KCNQ2 | c.2614C= (p.Arg872=) c.2560C= (p.Arg854=) c.1957C= (p.Arg653=) c.2467C= (p.Arg823=) c.2128C= (p.Arg710=) c.2476C= (p.Arg826=) c.2241+343C= (n.2241+343C=) c.2205+343C= (n.2205+343C=) c.2506C= (p.Arg836=) c.2133+343C= (n.2133+343C=) c.1680-5860C= (n.1680-5860C=) c.2602C= (p.Arg868=) c.2668C= (p.Arg890=) c.2665C= (p.Arg889=) c.2638C= (p.Arg880=) c.2584C= (p.Arg862=) c.2557C= (p.Arg853=) c.2542C= (p.Arg848=) c.2149C= (p.Arg717=) c.2611C= (p.Arg871=) c.2548C= (p.Arg850=) c.2545C= (p.Arg849=) c.2503C= (p.Arg835=) c.1576C= (p.Arg526=) | |
20 | g.63406703G>T | CA409636550 | KCNQ2 | c.2614C>A (p.Arg872Ser) c.2560C>A (p.Arg854Ser) c.1957C>A (p.Arg653Ser) c.2467C>A (p.Arg823Ser) c.2128C>A (p.Arg710Ser) c.2476C>A (p.Arg826Ser) c.2241+343C>A (n.2241+343C>A) c.2205+343C>A (n.2205+343C>A) c.2506C>A (p.Arg836Ser) c.2133+343C>A (n.2133+343C>A) c.1680-5860C>A (n.1680-5860C>A) c.2602C>A (p.Arg868Ser) c.2668C>A (p.Arg890Ser) c.2665C>A (p.Arg889Ser) c.2638C>A (p.Arg880Ser) c.2584C>A (p.Arg862Ser) c.2557C>A (p.Arg853Ser) c.2542C>A (p.Arg848Ser) c.2149C>A (p.Arg717Ser) c.2611C>A (p.Arg871Ser) c.2548C>A (p.Arg850Ser) c.2545C>A (p.Arg849Ser) c.2503C>A (p.Arg835Ser) c.1576C>A (p.Arg526Ser) | gnomAD v4 |
20 | g.63406703_63406704insCCGGAGTAGGCAATCTCCACGCCCT | CA2527180659 | KCNQ2 | c.2613_2614insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser873AlafsTer18) c.2559_2560insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser855AlafsTer18) c.1956_1957insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser654AlafsTer18) c.2466_2467insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser824AlafsTer18) c.2127_2128insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser711AlafsTer18) c.2475_2476insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser827AlafsTer18) c.2241+342_2241+343insAGGGCGTGGAGATTGCCTACTCCGG (n.2241+342_2241+343insAGGGCGTGGAGATTGCCTACTCCGG) c.2205+342_2205+343insAGGGCGTGGAGATTGCCTACTCCGG (n.2205+342_2205+343insAGGGCGTGGAGATTGCCTACTCCGG) c.2505_2506insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser837AlafsTer18) c.2133+342_2133+343insAGGGCGTGGAGATTGCCTACTCCGG (n.2133+342_2133+343insAGGGCGTGGAGATTGCCTACTCCGG) c.1680-5861_1680-5860insAGGGCGTGGAGATTGCCTACTCCGG (n.1680-5861_1680-5860insAGGGCGTGGAGATTGCCTACTCCGG) c.2601_2602insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser869AlafsTer18) c.2667_2668insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser891AlafsTer18) c.2664_2665insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser890AlafsTer18) c.2637_2638insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser881AlafsTer18) c.2583_2584insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser863AlafsTer18) c.2556_2557insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser854AlafsTer18) c.2541_2542insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser849AlafsTer18) c.2148_2149insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser718AlafsTer18) c.2610_2611insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser872AlafsTer18) c.2547_2548insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser851AlafsTer18) c.2544_2545insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser850AlafsTer18) c.2502_2503insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser836AlafsTer18) c.1575_1576insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser527AlafsTer18) | |
20 | g.63406704T>A | CA511339204 | KCNQ2 | c.2613A>T (p.Pro871=) c.2559A>T (p.Pro853=) c.1956A>T (p.Pro652=) c.2466A>T (p.Pro822=) c.2127A>T (p.Pro709=) c.2475A>T (p.Pro825=) c.2241+342A>T (n.2241+342A>T) c.2205+342A>T (n.2205+342A>T) c.2505A>T (p.Pro835=) c.2133+342A>T (n.2133+342A>T) c.1680-5861A>T (n.1680-5861A>T) c.2601A>T (p.Pro867=) c.2667A>T (p.Pro889=) c.2664A>T (p.Pro888=) c.2637A>T (p.Pro879=) c.2583A>T (p.Pro861=) c.2556A>T (p.Pro852=) c.2541A>T (p.Pro847=) c.2148A>T (p.Pro716=) c.2610A>T (p.Pro870=) c.2547A>T (p.Pro849=) c.2544A>T (p.Pro848=) c.2502A>T (p.Pro834=) c.1575A>T (p.Pro525=) | |
20 | g.63406704T>C | CA511339205 | KCNQ2 | c.2613A>G (p.Pro871=) c.2559A>G (p.Pro853=) c.1956A>G (p.Pro652=) c.2466A>G (p.Pro822=) c.2127A>G (p.Pro709=) c.2475A>G (p.Pro825=) c.2241+342A>G (n.2241+342A>G) c.2205+342A>G (n.2205+342A>G) c.2505A>G (p.Pro835=) c.2133+342A>G (n.2133+342A>G) c.1680-5861A>G (n.1680-5861A>G) c.2601A>G (p.Pro867=) c.2667A>G (p.Pro889=) c.2664A>G (p.Pro888=) c.2637A>G (p.Pro879=) c.2583A>G (p.Pro861=) c.2556A>G (p.Pro852=) c.2541A>G (p.Pro847=) c.2148A>G (p.Pro716=) c.2610A>G (p.Pro870=) c.2547A>G (p.Pro849=) c.2544A>G (p.Pro848=) c.2502A>G (p.Pro834=) c.1575A>G (p.Pro525=) | |
20 | g.63406704T>G | CA511339206 | KCNQ2 | c.2613A>C (p.Pro871=) c.2559A>C (p.Pro853=) c.1956A>C (p.Pro652=) c.2466A>C (p.Pro822=) c.2127A>C (p.Pro709=) c.2475A>C (p.Pro825=) c.2241+342A>C (n.2241+342A>C) c.2205+342A>C (n.2205+342A>C) c.2505A>C (p.Pro835=) c.2133+342A>C (n.2133+342A>C) c.1680-5861A>C (n.1680-5861A>C) c.2601A>C (p.Pro867=) c.2667A>C (p.Pro889=) c.2664A>C (p.Pro888=) c.2637A>C (p.Pro879=) c.2583A>C (p.Pro861=) c.2556A>C (p.Pro852=) c.2541A>C (p.Pro847=) c.2148A>C (p.Pro716=) c.2610A>C (p.Pro870=) c.2547A>C (p.Pro849=) c.2544A>C (p.Pro848=) c.2502A>C (p.Pro834=) c.1575A>C (p.Pro525=) | |
20 | g.63406705G>A | CA409636552 | KCNQ2 | c.2612C>T (p.Pro871Leu) c.2558C>T (p.Pro853Leu) c.1955C>T (p.Pro652Leu) c.2465C>T (p.Pro822Leu) c.2126C>T (p.Pro709Leu) c.2474C>T (p.Pro825Leu) c.2241+341C>T (n.2241+341C>T) c.2205+341C>T (n.2205+341C>T) c.2504C>T (p.Pro835Leu) c.2133+341C>T (n.2133+341C>T) c.1680-5862C>T (n.1680-5862C>T) c.2600C>T (p.Pro867Leu) c.2666C>T (p.Pro889Leu) c.2663C>T (p.Pro888Leu) c.2636C>T (p.Pro879Leu) c.2582C>T (p.Pro861Leu) c.2555C>T (p.Pro852Leu) c.2540C>T (p.Pro847Leu) c.2147C>T (p.Pro716Leu) c.2609C>T (p.Pro870Leu) c.2546C>T (p.Pro849Leu) c.2543C>T (p.Pro848Leu) c.2501C>T (p.Pro834Leu) c.1574C>T (p.Pro525Leu) | COSMIC COSMIC COSMIC |
20 | g.63406705G>C | CA409636554 | KCNQ2 | c.2612C>G (p.Pro871Arg) c.2558C>G (p.Pro853Arg) c.1955C>G (p.Pro652Arg) c.2465C>G (p.Pro822Arg) c.2126C>G (p.Pro709Arg) c.2474C>G (p.Pro825Arg) c.2241+341C>G (n.2241+341C>G) c.2205+341C>G (n.2205+341C>G) c.2504C>G (p.Pro835Arg) c.2133+341C>G (n.2133+341C>G) c.1680-5862C>G (n.1680-5862C>G) c.2600C>G (p.Pro867Arg) c.2666C>G (p.Pro889Arg) c.2663C>G (p.Pro888Arg) c.2636C>G (p.Pro879Arg) c.2582C>G (p.Pro861Arg) c.2555C>G (p.Pro852Arg) c.2540C>G (p.Pro847Arg) c.2147C>G (p.Pro716Arg) c.2609C>G (p.Pro870Arg) c.2546C>G (p.Pro849Arg) c.2543C>G (p.Pro848Arg) c.2501C>G (p.Pro834Arg) c.1574C>G (p.Pro525Arg) | |
20 | g.63406705G>T | CA409636556 | KCNQ2 | c.2612C>A (p.Pro871Gln) c.2558C>A (p.Pro853Gln) c.1955C>A (p.Pro652Gln) c.2465C>A (p.Pro822Gln) c.2126C>A (p.Pro709Gln) c.2474C>A (p.Pro825Gln) c.2241+341C>A (n.2241+341C>A) c.2205+341C>A (n.2205+341C>A) c.2504C>A (p.Pro835Gln) c.2133+341C>A (n.2133+341C>A) c.1680-5862C>A (n.1680-5862C>A) c.2600C>A (p.Pro867Gln) c.2666C>A (p.Pro889Gln) c.2663C>A (p.Pro888Gln) c.2636C>A (p.Pro879Gln) c.2582C>A (p.Pro861Gln) c.2555C>A (p.Pro852Gln) c.2540C>A (p.Pro847Gln) c.2147C>A (p.Pro716Gln) c.2609C>A (p.Pro870Gln) c.2546C>A (p.Pro849Gln) c.2543C>A (p.Pro848Gln) c.2501C>A (p.Pro834Gln) c.1574C>A (p.Pro525Gln) | gnomAD v4 |
20 | g.63406705_63406706insCC | CA2545776156 | KCNQ2 | c.2611_2612insGG (p.Pro871ArgfsTer?) c.2557_2558insGG (p.Pro853ArgfsTer?) c.1954_1955insGG (p.Pro652ArgfsTer?) c.2464_2465insGG (p.Pro822ArgfsTer?) c.2125_2126insGG (p.Pro709ArgfsTer?) c.2473_2474insGG (p.Pro825ArgfsTer?) c.2241+340_2241+341insGG (n.2241+340_2241+341insGG) c.2205+340_2205+341insGG (n.2205+340_2205+341insGG) c.2503_2504insGG (p.Pro835ArgfsTer?) c.2133+340_2133+341insGG (n.2133+340_2133+341insGG) c.1680-5863_1680-5862insGG (n.1680-5863_1680-5862insGG) c.2599_2600insGG (p.Pro867ArgfsTer?) c.2665_2666insGG (p.Pro889ArgfsTer?) c.2662_2663insGG (p.Pro888ArgfsTer?) c.2635_2636insGG (p.Pro879ArgfsTer?) c.2581_2582insGG (p.Pro861ArgfsTer?) c.2554_2555insGG (p.Pro852ArgfsTer?) c.2539_2540insGG (p.Pro847ArgfsTer?) c.2146_2147insGG (p.Pro716ArgfsTer?) c.2608_2609insGG (p.Pro870ArgfsTer?) c.2545_2546insGG (p.Pro849ArgfsTer?) c.2542_2543insGG (p.Pro848ArgfsTer?) c.2500_2501insGG (p.Pro834ArgfsTer?) c.1573_1574insGG (p.Pro525ArgfsTer?) | |
20 | g.63406706G>A | CA409636558 | KCNQ2 | c.2611C>T (p.Pro871Ser) c.2557C>T (p.Pro853Ser) c.1954C>T (p.Pro652Ser) c.2464C>T (p.Pro822Ser) c.2125C>T (p.Pro709Ser) c.2473C>T (p.Pro825Ser) c.2241+340C>T (n.2241+340C>T) c.2205+340C>T (n.2205+340C>T) c.2503C>T (p.Pro835Ser) c.2133+340C>T (n.2133+340C>T) c.1680-5863C>T (n.1680-5863C>T) c.2599C>T (p.Pro867Ser) c.2665C>T (p.Pro889Ser) c.2662C>T (p.Pro888Ser) c.2635C>T (p.Pro879Ser) c.2581C>T (p.Pro861Ser) c.2554C>T (p.Pro852Ser) c.2539C>T (p.Pro847Ser) c.2146C>T (p.Pro716Ser) c.2608C>T (p.Pro870Ser) c.2545C>T (p.Pro849Ser) c.2542C>T (p.Pro848Ser) c.2500C>T (p.Pro834Ser) c.1573C>T (p.Pro525Ser) | gnomAD v4 |
20 | g.63406706G>C | CA409636560 | KCNQ2 | c.2611C>G (p.Pro871Ala) c.2557C>G (p.Pro853Ala) c.1954C>G (p.Pro652Ala) c.2464C>G (p.Pro822Ala) c.2125C>G (p.Pro709Ala) c.2473C>G (p.Pro825Ala) c.2241+340C>G (n.2241+340C>G) c.2205+340C>G (n.2205+340C>G) c.2503C>G (p.Pro835Ala) c.2133+340C>G (n.2133+340C>G) c.1680-5863C>G (n.1680-5863C>G) c.2599C>G (p.Pro867Ala) c.2665C>G (p.Pro889Ala) c.2662C>G (p.Pro888Ala) c.2635C>G (p.Pro879Ala) c.2581C>G (p.Pro861Ala) c.2554C>G (p.Pro852Ala) c.2539C>G (p.Pro847Ala) c.2146C>G (p.Pro716Ala) c.2608C>G (p.Pro870Ala) c.2545C>G (p.Pro849Ala) c.2542C>G (p.Pro848Ala) c.2500C>G (p.Pro834Ala) c.1573C>G (p.Pro525Ala) | |
20 | g.63406706G>T | CA409636562 | KCNQ2 | c.2611C>A (p.Pro871Thr) c.2557C>A (p.Pro853Thr) c.1954C>A (p.Pro652Thr) c.2464C>A (p.Pro822Thr) c.2125C>A (p.Pro709Thr) c.2473C>A (p.Pro825Thr) c.2241+340C>A (n.2241+340C>A) c.2205+340C>A (n.2205+340C>A) c.2503C>A (p.Pro835Thr) c.2133+340C>A (n.2133+340C>A) c.1680-5863C>A (n.1680-5863C>A) c.2599C>A (p.Pro867Thr) c.2665C>A (p.Pro889Thr) c.2662C>A (p.Pro888Thr) c.2635C>A (p.Pro879Thr) c.2581C>A (p.Pro861Thr) c.2554C>A (p.Pro852Thr) c.2539C>A (p.Pro847Thr) c.2146C>A (p.Pro716Thr) c.2608C>A (p.Pro870Thr) c.2545C>A (p.Pro849Thr) c.2542C>A (p.Pro848Thr) c.2500C>A (p.Pro834Thr) c.1573C>A (p.Pro525Thr) | |
20 | g.63406706_63406707insTACCCGC | CA2499225798 | KCNQ2 | c.2610_2611insGCGGGTA (p.Pro871AlafsTer14) c.2556_2557insGCGGGTA (p.Pro853AlafsTer14) c.1953_1954insGCGGGTA (p.Pro652AlafsTer14) c.2463_2464insGCGGGTA (p.Pro822AlafsTer14) c.2124_2125insGCGGGTA (p.Pro709AlafsTer14) c.2472_2473insGCGGGTA (p.Pro825AlafsTer14) c.2241+339_2241+340insGCGGGTA (n.2241+339_2241+340insGCGGGTA) c.2205+339_2205+340insGCGGGTA (n.2205+339_2205+340insGCGGGTA) c.2502_2503insGCGGGTA (p.Pro835AlafsTer14) c.2133+339_2133+340insGCGGGTA (n.2133+339_2133+340insGCGGGTA) c.1680-5864_1680-5863insGCGGGTA (n.1680-5864_1680-5863insGCGGGTA) c.2598_2599insGCGGGTA (p.Pro867AlafsTer14) c.2664_2665insGCGGGTA (p.Pro889AlafsTer14) c.2661_2662insGCGGGTA (p.Pro888AlafsTer14) c.2634_2635insGCGGGTA (p.Pro879AlafsTer14) c.2580_2581insGCGGGTA (p.Pro861AlafsTer14) c.2553_2554insGCGGGTA (p.Pro852AlafsTer14) c.2538_2539insGCGGGTA (p.Pro847AlafsTer14) c.2145_2146insGCGGGTA (p.Pro716AlafsTer14) c.2607_2608insGCGGGTA (p.Pro870AlafsTer14) c.2544_2545insGCGGGTA (p.Pro849AlafsTer14) c.2541_2542insGCGGGTA (p.Pro848AlafsTer14) c.2499_2500insGCGGGTA (p.Pro834AlafsTer14) c.1572_1573insGCGGGTA (p.Pro525AlafsTer14) | dbSNP |
20 | g.63406707C>A | CA511339207 | KCNQ2 | c.2610G>T (p.Pro870=) c.2556G>T (p.Pro852=) c.1953G>T (p.Pro651=) c.2463G>T (p.Pro821=) c.2124G>T (p.Pro708=) c.2472G>T (p.Pro824=) c.2241+339G>T (n.2241+339G>T) c.2205+339G>T (n.2205+339G>T) c.2502G>T (p.Pro834=) c.2133+339G>T (n.2133+339G>T) c.1680-5864G>T (n.1680-5864G>T) c.2598G>T (p.Pro866=) c.2664G>T (p.Pro888=) c.2661G>T (p.Pro887=) c.2634G>T (p.Pro878=) c.2580G>T (p.Pro860=) c.2553G>T (p.Pro851=) c.2538G>T (p.Pro846=) c.2145G>T (p.Pro715=) c.2607G>T (p.Pro869=) c.2544G>T (p.Pro848=) c.2541G>T (p.Pro847=) c.2499G>T (p.Pro833=) c.1572G>T (p.Pro524=) | gnomAD v4 |
20 | g.63406707C= | CA2374774208 | KCNQ2 | c.2610G= (p.Pro870=) c.2556G= (p.Pro852=) c.1953G= (p.Pro651=) c.2463G= (p.Pro821=) c.2124G= (p.Pro708=) c.2472G= (p.Pro824=) c.2241+339G= (n.2241+339G=) c.2205+339G= (n.2205+339G=) c.2502G= (p.Pro834=) c.2133+339G= (n.2133+339G=) c.1680-5864G= (n.1680-5864G=) c.2598G= (p.Pro866=) c.2664G= (p.Pro888=) c.2661G= (p.Pro887=) c.2634G= (p.Pro878=) c.2580G= (p.Pro860=) c.2553G= (p.Pro851=) c.2538G= (p.Pro846=) c.2145G= (p.Pro715=) c.2607G= (p.Pro869=) c.2544G= (p.Pro848=) c.2541G= (p.Pro847=) c.2499G= (p.Pro833=) c.1572G= (p.Pro524=) | |
20 | g.63406707C>G | CA511339208 | KCNQ2 | c.2610G>C (p.Pro870=) c.2556G>C (p.Pro852=) c.1953G>C (p.Pro651=) c.2463G>C (p.Pro821=) c.2124G>C (p.Pro708=) c.2472G>C (p.Pro824=) c.2241+339G>C (n.2241+339G>C) c.2205+339G>C (n.2205+339G>C) c.2502G>C (p.Pro834=) c.2133+339G>C (n.2133+339G>C) c.1680-5864G>C (n.1680-5864G>C) c.2598G>C (p.Pro866=) c.2664G>C (p.Pro888=) c.2661G>C (p.Pro887=) c.2634G>C (p.Pro878=) c.2580G>C (p.Pro860=) c.2553G>C (p.Pro851=) c.2538G>C (p.Pro846=) c.2145G>C (p.Pro715=) c.2607G>C (p.Pro869=) c.2544G>C (p.Pro848=) c.2541G>C (p.Pro847=) c.2499G>C (p.Pro833=) c.1572G>C (p.Pro524=) | gnomAD v4 |
20 | g.63406707C>T | CA291821 | KCNQ2 | c.2610G>A (p.Pro870=) c.2556G>A (p.Pro852=) c.1953G>A (p.Pro651=) c.2463G>A (p.Pro821=) c.2124G>A (p.Pro708=) c.2472G>A (p.Pro824=) c.2241+339G>A (n.2241+339G>A) c.2205+339G>A (n.2205+339G>A) c.2502G>A (p.Pro834=) c.2133+339G>A (n.2133+339G>A) c.1680-5864G>A (n.1680-5864G>A) c.2598G>A (p.Pro866=) c.2664G>A (p.Pro888=) c.2661G>A (p.Pro887=) c.2634G>A (p.Pro878=) c.2580G>A (p.Pro860=) c.2553G>A (p.Pro851=) c.2538G>A (p.Pro846=) c.2145G>A (p.Pro715=) c.2607G>A (p.Pro869=) c.2544G>A (p.Pro848=) c.2541G>A (p.Pro847=) c.2499G>A (p.Pro833=) c.1572G>A (p.Pro524=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63406707_63406708delinsCG | CA2374774209 | KCNQ2 | c.2609_2610delinsCG (p.Pro870=) c.2555_2556delinsCG (p.Pro852=) c.1952_1953delinsCG (p.Pro651=) c.2462_2463delinsCG (p.Pro821=) c.2123_2124delinsCG (p.Pro708=) c.2471_2472delinsCG (p.Pro824=) c.2241+338_2241+339delinsCG (n.2241+338_2241+339delinsCG) c.2205+338_2205+339delinsCG (n.2205+338_2205+339delinsCG) c.2501_2502delinsCG (p.Pro834=) c.2133+338_2133+339delinsCG (n.2133+338_2133+339delinsCG) c.1680-5865_1680-5864delinsCG (n.1680-5865_1680-5864delinsCG) c.2597_2598delinsCG (p.Pro866=) c.2663_2664delinsCG (p.Pro888=) c.2660_2661delinsCG (p.Pro887=) c.2633_2634delinsCG (p.Pro878=) c.2579_2580delinsCG (p.Pro860=) c.2552_2553delinsCG (p.Pro851=) c.2537_2538delinsCG (p.Pro846=) c.2144_2145delinsCG (p.Pro715=) c.2606_2607delinsCG (p.Pro869=) c.2543_2544delinsCG (p.Pro848=) c.2540_2541delinsCG (p.Pro847=) c.2498_2499delinsCG (p.Pro833=) c.1571_1572delinsCG (p.Pro524=) | |
20 | g.63406707_63406708insA | CA2842871699 | KCNQ2 | c.2609_2610insT (p.Pro871AlafsTer12) c.2555_2556insT (p.Pro853AlafsTer12) c.1952_1953insT (p.Pro652AlafsTer12) c.2462_2463insT (p.Pro822AlafsTer12) c.2123_2124insT (p.Pro709AlafsTer12) c.2471_2472insT (p.Pro825AlafsTer12) c.2241+338_2241+339insT (n.2241+338_2241+339insT) c.2205+338_2205+339insT (n.2205+338_2205+339insT) c.2501_2502insT (p.Pro835AlafsTer12) c.2133+338_2133+339insT (n.2133+338_2133+339insT) c.1680-5865_1680-5864insT (n.1680-5865_1680-5864insT) c.2597_2598insT (p.Pro867AlafsTer12) c.2663_2664insT (p.Pro889AlafsTer12) c.2660_2661insT (p.Pro888AlafsTer12) c.2633_2634insT (p.Pro879AlafsTer12) c.2579_2580insT (p.Pro861AlafsTer12) c.2552_2553insT (p.Pro852AlafsTer12) c.2537_2538insT (p.Pro847AlafsTer12) c.2144_2145insT (p.Pro716AlafsTer12) c.2606_2607insT (p.Pro870AlafsTer12) c.2543_2544insT (p.Pro849AlafsTer12) c.2540_2541insT (p.Pro848AlafsTer12) c.2498_2499insT (p.Pro834AlafsTer12) c.1571_1572insT (p.Pro525AlafsTer12) | |
20 | g.63406708G>A | CA315536 | KCNQ2 | c.2609C>T (p.Pro870Leu) c.2555C>T (p.Pro852Leu) c.1952C>T (p.Pro651Leu) c.2462C>T (p.Pro821Leu) c.2123C>T (p.Pro708Leu) c.2471C>T (p.Pro824Leu) c.2241+338C>T (n.2241+338C>T) c.2205+338C>T (n.2205+338C>T) c.2501C>T (p.Pro834Leu) c.2133+338C>T (n.2133+338C>T) c.1680-5865C>T (n.1680-5865C>T) c.2597C>T (p.Pro866Leu) c.2663C>T (p.Pro888Leu) c.2660C>T (p.Pro887Leu) c.2633C>T (p.Pro878Leu) c.2579C>T (p.Pro860Leu) c.2552C>T (p.Pro851Leu) c.2537C>T (p.Pro846Leu) c.2144C>T (p.Pro715Leu) c.2606C>T (p.Pro869Leu) c.2543C>T (p.Pro848Leu) c.2540C>T (p.Pro847Leu) c.2498C>T (p.Pro833Leu) c.1571C>T (p.Pro524Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406708G>C | CA409636564 | KCNQ2 | c.2609C>G (p.Pro870Arg) c.2555C>G (p.Pro852Arg) c.1952C>G (p.Pro651Arg) c.2462C>G (p.Pro821Arg) c.2123C>G (p.Pro708Arg) c.2471C>G (p.Pro824Arg) c.2241+338C>G (n.2241+338C>G) c.2205+338C>G (n.2205+338C>G) c.2501C>G (p.Pro834Arg) c.2133+338C>G (n.2133+338C>G) c.1680-5865C>G (n.1680-5865C>G) c.2597C>G (p.Pro866Arg) c.2663C>G (p.Pro888Arg) c.2660C>G (p.Pro887Arg) c.2633C>G (p.Pro878Arg) c.2579C>G (p.Pro860Arg) c.2552C>G (p.Pro851Arg) c.2537C>G (p.Pro846Arg) c.2144C>G (p.Pro715Arg) c.2606C>G (p.Pro869Arg) c.2543C>G (p.Pro848Arg) c.2540C>G (p.Pro847Arg) c.2498C>G (p.Pro833Arg) c.1571C>G (p.Pro524Arg) | |
20 | g.63406708G= | CA2374774210 | KCNQ2 | c.2609C= (p.Pro870=) c.2555C= (p.Pro852=) c.1952C= (p.Pro651=) c.2462C= (p.Pro821=) c.2123C= (p.Pro708=) c.2471C= (p.Pro824=) c.2241+338C= (n.2241+338C=) c.2205+338C= (n.2205+338C=) c.2501C= (p.Pro834=) c.2133+338C= (n.2133+338C=) c.1680-5865C= (n.1680-5865C=) c.2597C= (p.Pro866=) c.2663C= (p.Pro888=) c.2660C= (p.Pro887=) c.2633C= (p.Pro878=) c.2579C= (p.Pro860=) c.2552C= (p.Pro851=) c.2537C= (p.Pro846=) c.2144C= (p.Pro715=) c.2606C= (p.Pro869=) c.2543C= (p.Pro848=) c.2540C= (p.Pro847=) c.2498C= (p.Pro833=) c.1571C= (p.Pro524=) | |
20 | g.63406708G>T | CA409636566 | KCNQ2 | c.2609C>A (p.Pro870Gln) c.2555C>A (p.Pro852Gln) c.1952C>A (p.Pro651Gln) c.2462C>A (p.Pro821Gln) c.2123C>A (p.Pro708Gln) c.2471C>A (p.Pro824Gln) c.2241+338C>A (n.2241+338C>A) c.2205+338C>A (n.2205+338C>A) c.2501C>A (p.Pro834Gln) c.2133+338C>A (n.2133+338C>A) c.1680-5865C>A (n.1680-5865C>A) c.2597C>A (p.Pro866Gln) c.2663C>A (p.Pro888Gln) c.2660C>A (p.Pro887Gln) c.2633C>A (p.Pro878Gln) c.2579C>A (p.Pro860Gln) c.2552C>A (p.Pro851Gln) c.2537C>A (p.Pro846Gln) c.2144C>A (p.Pro715Gln) c.2606C>A (p.Pro869Gln) c.2543C>A (p.Pro848Gln) c.2540C>A (p.Pro847Gln) c.2498C>A (p.Pro833Gln) c.1571C>A (p.Pro524Gln) | gnomAD v4 |
20 | g.63406712dup | CA2580098388 | KCNQ2 | c.2609dup (p.Pro871AlafsTer12) c.2555dup (p.Pro853AlafsTer12) c.1952dup (p.Pro652AlafsTer12) c.2462dup (p.Pro822AlafsTer12) c.2123dup (p.Pro709AlafsTer12) c.2471dup (p.Pro825AlafsTer12) c.2241+338dup (n.2241+338dup) c.2205+338dup (n.2205+338dup) c.2501dup (p.Pro835AlafsTer12) c.2133+338dup (n.2133+338dup) c.1680-5865dup (n.1680-5865dup) c.2597dup (p.Pro867AlafsTer12) c.2663dup (p.Pro889AlafsTer12) c.2660dup (p.Pro888AlafsTer12) c.2633dup (p.Pro879AlafsTer12) c.2579dup (p.Pro861AlafsTer12) c.2552dup (p.Pro852AlafsTer12) c.2537dup (p.Pro847AlafsTer12) c.2144dup (p.Pro716AlafsTer12) c.2606dup (p.Pro870AlafsTer12) c.2543dup (p.Pro849AlafsTer12) c.2540dup (p.Pro848AlafsTer12) c.2498dup (p.Pro834AlafsTer12) c.1571dup (p.Pro525AlafsTer12) | ClinVar |
20 | g.63406712del | CA16620959 | KCNQ2 | c.2609del (p.Pro870ArgfsTer?) c.2555del (p.Pro852ArgfsTer?) c.1952del (p.Pro651ArgfsTer?) c.2462del (p.Pro821ArgfsTer?) c.2123del (p.Pro708ArgfsTer?) c.2471del (p.Pro824ArgfsTer?) c.2241+338del (n.2241+338del) c.2205+338del (n.2205+338del) c.2501del (p.Pro834ArgfsTer?) c.2133+338del (n.2133+338del) c.1680-5865del (n.1680-5865del) c.2597del (p.Pro866ArgfsTer?) c.2663del (p.Pro888ArgfsTer?) c.2660del (p.Pro887ArgfsTer?) c.2633del (p.Pro878ArgfsTer?) c.2579del (p.Pro860ArgfsTer?) c.2552del (p.Pro851ArgfsTer?) c.2537del (p.Pro846ArgfsTer?) c.2144del (p.Pro715ArgfsTer?) c.2606del (p.Pro869ArgfsTer?) c.2543del (p.Pro848ArgfsTer?) c.2540del (p.Pro847ArgfsTer?) c.2498del (p.Pro833ArgfsTer?) c.1571del (p.Pro524ArgfsTer?) | ClinVar dbSNP gnomAD v4 |
20 | g.63406708_63406709insCCAATC | CA2557562509 | KCNQ2 | c.2608_2609insGATTGG (p.Pro870delinsArgLeuAla) c.2554_2555insGATTGG (p.Pro852delinsArgLeuAla) c.1951_1952insGATTGG (p.Pro651delinsArgLeuAla) c.2461_2462insGATTGG (p.Pro821delinsArgLeuAla) c.2122_2123insGATTGG (p.Pro708delinsArgLeuAla) c.2470_2471insGATTGG (p.Pro824delinsArgLeuAla) c.2241+337_2241+338insGATTGG (n.2241+337_2241+338insGATTGG) c.2205+337_2205+338insGATTGG (n.2205+337_2205+338insGATTGG) c.2500_2501insGATTGG (p.Pro834delinsArgLeuAla) c.2133+337_2133+338insGATTGG (n.2133+337_2133+338insGATTGG) c.1680-5866_1680-5865insGATTGG (n.1680-5866_1680-5865insGATTGG) c.2596_2597insGATTGG (p.Pro866delinsArgLeuAla) c.2662_2663insGATTGG (p.Pro888delinsArgLeuAla) c.2659_2660insGATTGG (p.Pro887delinsArgLeuAla) c.2632_2633insGATTGG (p.Pro878delinsArgLeuAla) c.2578_2579insGATTGG (p.Pro860delinsArgLeuAla) c.2551_2552insGATTGG (p.Pro851delinsArgLeuAla) c.2536_2537insGATTGG (p.Pro846delinsArgLeuAla) c.2143_2144insGATTGG (p.Pro715delinsArgLeuAla) c.2605_2606insGATTGG (p.Pro869delinsArgLeuAla) c.2542_2543insGATTGG (p.Pro848delinsArgLeuAla) c.2539_2540insGATTGG (p.Pro847delinsArgLeuAla) c.2497_2498insGATTGG (p.Pro833delinsArgLeuAla) c.1570_1571insGATTGG (p.Pro524delinsArgLeuAla) | |
20 | g.63406709G>A | CA409636569 | KCNQ2 | c.2608C>T (p.Pro870Ser) c.2554C>T (p.Pro852Ser) c.1951C>T (p.Pro651Ser) c.2461C>T (p.Pro821Ser) c.2122C>T (p.Pro708Ser) c.2470C>T (p.Pro824Ser) c.2241+337C>T (n.2241+337C>T) c.2205+337C>T (n.2205+337C>T) c.2500C>T (p.Pro834Ser) c.2133+337C>T (n.2133+337C>T) c.1680-5866C>T (n.1680-5866C>T) c.2596C>T (p.Pro866Ser) c.2662C>T (p.Pro888Ser) c.2659C>T (p.Pro887Ser) c.2632C>T (p.Pro878Ser) c.2578C>T (p.Pro860Ser) c.2551C>T (p.Pro851Ser) c.2536C>T (p.Pro846Ser) c.2143C>T (p.Pro715Ser) c.2605C>T (p.Pro869Ser) c.2542C>T (p.Pro848Ser) c.2539C>T (p.Pro847Ser) c.2497C>T (p.Pro833Ser) c.1570C>T (p.Pro524Ser) | |
20 | g.63406709G>C | CA409636571 | KCNQ2 | c.2608C>G (p.Pro870Ala) c.2554C>G (p.Pro852Ala) c.1951C>G (p.Pro651Ala) c.2461C>G (p.Pro821Ala) c.2122C>G (p.Pro708Ala) c.2470C>G (p.Pro824Ala) c.2241+337C>G (n.2241+337C>G) c.2205+337C>G (n.2205+337C>G) c.2500C>G (p.Pro834Ala) c.2133+337C>G (n.2133+337C>G) c.1680-5866C>G (n.1680-5866C>G) c.2596C>G (p.Pro866Ala) c.2662C>G (p.Pro888Ala) c.2659C>G (p.Pro887Ala) c.2632C>G (p.Pro878Ala) c.2578C>G (p.Pro860Ala) c.2551C>G (p.Pro851Ala) c.2536C>G (p.Pro846Ala) c.2143C>G (p.Pro715Ala) c.2605C>G (p.Pro869Ala) c.2542C>G (p.Pro848Ala) c.2539C>G (p.Pro847Ala) c.2497C>G (p.Pro833Ala) c.1570C>G (p.Pro524Ala) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406709G= | CA2374774211 | KCNQ2 | c.2608C= (p.Pro870=) c.2554C= (p.Pro852=) c.1951C= (p.Pro651=) c.2461C= (p.Pro821=) c.2122C= (p.Pro708=) c.2470C= (p.Pro824=) c.2241+337C= (n.2241+337C=) c.2205+337C= (n.2205+337C=) c.2500C= (p.Pro834=) c.2133+337C= (n.2133+337C=) c.1680-5866C= (n.1680-5866C=) c.2596C= (p.Pro866=) c.2662C= (p.Pro888=) c.2659C= (p.Pro887=) c.2632C= (p.Pro878=) c.2578C= (p.Pro860=) c.2551C= (p.Pro851=) c.2536C= (p.Pro846=) c.2143C= (p.Pro715=) c.2605C= (p.Pro869=) c.2542C= (p.Pro848=) c.2539C= (p.Pro847=) c.2497C= (p.Pro833=) c.1570C= (p.Pro524=) | |
20 | g.63406709G>T | CA409636573 | KCNQ2 | c.2608C>A (p.Pro870Thr) c.2554C>A (p.Pro852Thr) c.1951C>A (p.Pro651Thr) c.2461C>A (p.Pro821Thr) c.2122C>A (p.Pro708Thr) c.2470C>A (p.Pro824Thr) c.2241+337C>A (n.2241+337C>A) c.2205+337C>A (n.2205+337C>A) c.2500C>A (p.Pro834Thr) c.2133+337C>A (n.2133+337C>A) c.1680-5866C>A (n.1680-5866C>A) c.2596C>A (p.Pro866Thr) c.2662C>A (p.Pro888Thr) c.2659C>A (p.Pro887Thr) c.2632C>A (p.Pro878Thr) c.2578C>A (p.Pro860Thr) c.2551C>A (p.Pro851Thr) c.2536C>A (p.Pro846Thr) c.2143C>A (p.Pro715Thr) c.2605C>A (p.Pro869Thr) c.2542C>A (p.Pro848Thr) c.2539C>A (p.Pro847Thr) c.2497C>A (p.Pro833Thr) c.1570C>A (p.Pro524Thr) | gnomAD v4 |
20 | g.63406710G>A | CA511339209 | KCNQ2 | c.2607C>T (p.Pro869=) c.2553C>T (p.Pro851=) c.1950C>T (p.Pro650=) c.2460C>T (p.Pro820=) c.2121C>T (p.Pro707=) c.2469C>T (p.Pro823=) c.2241+336C>T (n.2241+336C>T) c.2205+336C>T (n.2205+336C>T) c.2499C>T (p.Pro833=) c.2133+336C>T (n.2133+336C>T) c.1680-5867C>T (n.1680-5867C>T) c.2595C>T (p.Pro865=) c.2661C>T (p.Pro887=) c.2658C>T (p.Pro886=) c.2631C>T (p.Pro877=) c.2577C>T (p.Pro859=) c.2550C>T (p.Pro850=) c.2535C>T (p.Pro845=) c.2142C>T (p.Pro714=) c.2604C>T (p.Pro868=) c.2541C>T (p.Pro847=) c.2538C>T (p.Pro846=) c.2496C>T (p.Pro832=) c.1569C>T (p.Pro523=) | ClinVar dbSNP |
20 | g.63406710G>C | CA511339210 | KCNQ2 | c.2607C>G (p.Pro869=) c.2553C>G (p.Pro851=) c.1950C>G (p.Pro650=) c.2460C>G (p.Pro820=) c.2121C>G (p.Pro707=) c.2469C>G (p.Pro823=) c.2241+336C>G (n.2241+336C>G) c.2205+336C>G (n.2205+336C>G) c.2499C>G (p.Pro833=) c.2133+336C>G (n.2133+336C>G) c.1680-5867C>G (n.1680-5867C>G) c.2595C>G (p.Pro865=) c.2661C>G (p.Pro887=) c.2658C>G (p.Pro886=) c.2631C>G (p.Pro877=) c.2577C>G (p.Pro859=) c.2550C>G (p.Pro850=) c.2535C>G (p.Pro845=) c.2142C>G (p.Pro714=) c.2604C>G (p.Pro868=) c.2541C>G (p.Pro847=) c.2538C>G (p.Pro846=) c.2496C>G (p.Pro832=) c.1569C>G (p.Pro523=) | |
20 | g.63406710G= | CA2374774212 | KCNQ2 | c.2607C= (p.Pro869=) c.2553C= (p.Pro851=) c.1950C= (p.Pro650=) c.2460C= (p.Pro820=) c.2121C= (p.Pro707=) c.2469C= (p.Pro823=) c.2241+336C= (n.2241+336C=) c.2205+336C= (n.2205+336C=) c.2499C= (p.Pro833=) c.2133+336C= (n.2133+336C=) c.1680-5867C= (n.1680-5867C=) c.2595C= (p.Pro865=) c.2661C= (p.Pro887=) c.2658C= (p.Pro886=) c.2631C= (p.Pro877=) c.2577C= (p.Pro859=) c.2550C= (p.Pro850=) c.2535C= (p.Pro845=) c.2142C= (p.Pro714=) c.2604C= (p.Pro868=) c.2541C= (p.Pro847=) c.2538C= (p.Pro846=) c.2496C= (p.Pro832=) c.1569C= (p.Pro523=) | |
20 | g.63406710G>T | CA511339211 | KCNQ2 | c.2607C>A (p.Pro869=) c.2553C>A (p.Pro851=) c.1950C>A (p.Pro650=) c.2460C>A (p.Pro820=) c.2121C>A (p.Pro707=) c.2469C>A (p.Pro823=) c.2241+336C>A (n.2241+336C>A) c.2205+336C>A (n.2205+336C>A) c.2499C>A (p.Pro833=) c.2133+336C>A (n.2133+336C>A) c.1680-5867C>A (n.1680-5867C>A) c.2595C>A (p.Pro865=) c.2661C>A (p.Pro887=) c.2658C>A (p.Pro886=) c.2631C>A (p.Pro877=) c.2577C>A (p.Pro859=) c.2550C>A (p.Pro850=) c.2535C>A (p.Pro845=) c.2142C>A (p.Pro714=) c.2604C>A (p.Pro868=) c.2541C>A (p.Pro847=) c.2538C>A (p.Pro846=) c.2496C>A (p.Pro832=) c.1569C>A (p.Pro523=) | gnomAD v4 |
20 | g.63406710_63406711insAGGAGCGCTCACTGAAGAAGCCGTCCGTCACGATGTCGGAAAGCGCCTGAGAGTTCATCTCATAGGTCGCCGA | CA2551653830 | KCNQ2 | c.2606_2607insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro870ArgfsTer6) c.2552_2553insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro852ArgfsTer6) c.1949_1950insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro651ArgfsTer6) c.2459_2460insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro821ArgfsTer6) c.2120_2121insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro708ArgfsTer6) c.2468_2469insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro824ArgfsTer6) c.2241+335_2241+336insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (n.2241+335_2241+336insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT) c.2205+335_2205+336insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (n.2205+335_2205+336insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT) c.2498_2499insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro834ArgfsTer6) c.2133+335_2133+336insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (n.2133+335_2133+336insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT) c.1680-5868_1680-5867insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (n.1680-5868_1680-5867insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT) c.2594_2595insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro866ArgfsTer6) c.2660_2661insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro888ArgfsTer6) c.2657_2658insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro887ArgfsTer6) c.2630_2631insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro878ArgfsTer6) c.2576_2577insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro860ArgfsTer6) c.2549_2550insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro851ArgfsTer6) c.2534_2535insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro846ArgfsTer6) c.2141_2142insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro715ArgfsTer6) c.2603_2604insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro869ArgfsTer6) c.2540_2541insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro848ArgfsTer6) c.2537_2538insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro847ArgfsTer6) c.2495_2496insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro833ArgfsTer6) c.1568_1569insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro524ArgfsTer6) | |
20 | g.63406711G>A | CA409636574 | KCNQ2 | c.2606C>T (p.Pro869Leu) c.2552C>T (p.Pro851Leu) c.1949C>T (p.Pro650Leu) c.2459C>T (p.Pro820Leu) c.2120C>T (p.Pro707Leu) c.2468C>T (p.Pro823Leu) c.2241+335C>T (n.2241+335C>T) c.2205+335C>T (n.2205+335C>T) c.2498C>T (p.Pro833Leu) c.2133+335C>T (n.2133+335C>T) c.1680-5868C>T (n.1680-5868C>T) c.2594C>T (p.Pro865Leu) c.2660C>T (p.Pro887Leu) c.2657C>T (p.Pro886Leu) c.2630C>T (p.Pro877Leu) c.2576C>T (p.Pro859Leu) c.2549C>T (p.Pro850Leu) c.2534C>T (p.Pro845Leu) c.2141C>T (p.Pro714Leu) c.2603C>T (p.Pro868Leu) c.2540C>T (p.Pro847Leu) c.2537C>T (p.Pro846Leu) c.2495C>T (p.Pro832Leu) c.1568C>T (p.Pro523Leu) | |
20 | g.63406711G>C | CA409636575 | KCNQ2 | c.2606C>G (p.Pro869Arg) c.2552C>G (p.Pro851Arg) c.1949C>G (p.Pro650Arg) c.2459C>G (p.Pro820Arg) c.2120C>G (p.Pro707Arg) c.2468C>G (p.Pro823Arg) c.2241+335C>G (n.2241+335C>G) c.2205+335C>G (n.2205+335C>G) c.2498C>G (p.Pro833Arg) c.2133+335C>G (n.2133+335C>G) c.1680-5868C>G (n.1680-5868C>G) c.2594C>G (p.Pro865Arg) c.2660C>G (p.Pro887Arg) c.2657C>G (p.Pro886Arg) c.2630C>G (p.Pro877Arg) c.2576C>G (p.Pro859Arg) c.2549C>G (p.Pro850Arg) c.2534C>G (p.Pro845Arg) c.2141C>G (p.Pro714Arg) c.2603C>G (p.Pro868Arg) c.2540C>G (p.Pro847Arg) c.2537C>G (p.Pro846Arg) c.2495C>G (p.Pro832Arg) c.1568C>G (p.Pro523Arg) | |
20 | g.63406711G>T | CA409636577 | KCNQ2 | c.2606C>A (p.Pro869His) c.2552C>A (p.Pro851His) c.1949C>A (p.Pro650His) c.2459C>A (p.Pro820His) c.2120C>A (p.Pro707His) c.2468C>A (p.Pro823His) c.2241+335C>A (n.2241+335C>A) c.2205+335C>A (n.2205+335C>A) c.2498C>A (p.Pro833His) c.2133+335C>A (n.2133+335C>A) c.1680-5868C>A (n.1680-5868C>A) c.2594C>A (p.Pro865His) c.2660C>A (p.Pro887His) c.2657C>A (p.Pro886His) c.2630C>A (p.Pro877His) c.2576C>A (p.Pro859His) c.2549C>A (p.Pro850His) c.2534C>A (p.Pro845His) c.2141C>A (p.Pro714His) c.2603C>A (p.Pro868His) c.2540C>A (p.Pro847His) c.2537C>A (p.Pro846His) c.2495C>A (p.Pro832His) c.1568C>A (p.Pro523His) | |
20 | g.63406712G>A | CA409636579 | KCNQ2 | c.2605C>T (p.Pro869Ser) c.2551C>T (p.Pro851Ser) c.1948C>T (p.Pro650Ser) c.2458C>T (p.Pro820Ser) c.2119C>T (p.Pro707Ser) c.2467C>T (p.Pro823Ser) c.2241+334C>T (n.2241+334C>T) c.2205+334C>T (n.2205+334C>T) c.2497C>T (p.Pro833Ser) c.2133+334C>T (n.2133+334C>T) c.1680-5869C>T (n.1680-5869C>T) c.2593C>T (p.Pro865Ser) c.2659C>T (p.Pro887Ser) c.2656C>T (p.Pro886Ser) c.2629C>T (p.Pro877Ser) c.2575C>T (p.Pro859Ser) c.2548C>T (p.Pro850Ser) c.2533C>T (p.Pro845Ser) c.2140C>T (p.Pro714Ser) c.2602C>T (p.Pro868Ser) c.2539C>T (p.Pro847Ser) c.2536C>T (p.Pro846Ser) c.2494C>T (p.Pro832Ser) c.1567C>T (p.Pro523Ser) | |
20 | g.63406712G>C | CA409636580 | KCNQ2 | c.2605C>G (p.Pro869Ala) c.2551C>G (p.Pro851Ala) c.1948C>G (p.Pro650Ala) c.2458C>G (p.Pro820Ala) c.2119C>G (p.Pro707Ala) c.2467C>G (p.Pro823Ala) c.2241+334C>G (n.2241+334C>G) c.2205+334C>G (n.2205+334C>G) c.2497C>G (p.Pro833Ala) c.2133+334C>G (n.2133+334C>G) c.1680-5869C>G (n.1680-5869C>G) c.2593C>G (p.Pro865Ala) c.2659C>G (p.Pro887Ala) c.2656C>G (p.Pro886Ala) c.2629C>G (p.Pro877Ala) c.2575C>G (p.Pro859Ala) c.2548C>G (p.Pro850Ala) c.2533C>G (p.Pro845Ala) c.2140C>G (p.Pro714Ala) c.2602C>G (p.Pro868Ala) c.2539C>G (p.Pro847Ala) c.2536C>G (p.Pro846Ala) c.2494C>G (p.Pro832Ala) c.1567C>G (p.Pro523Ala) | gnomAD v4 |
20 | g.63406712G>T | CA409636583 | KCNQ2 | c.2605C>A (p.Pro869Thr) c.2551C>A (p.Pro851Thr) c.1948C>A (p.Pro650Thr) c.2458C>A (p.Pro820Thr) c.2119C>A (p.Pro707Thr) c.2467C>A (p.Pro823Thr) c.2241+334C>A (n.2241+334C>A) c.2205+334C>A (n.2205+334C>A) c.2497C>A (p.Pro833Thr) c.2133+334C>A (n.2133+334C>A) c.1680-5869C>A (n.1680-5869C>A) c.2593C>A (p.Pro865Thr) c.2659C>A (p.Pro887Thr) c.2656C>A (p.Pro886Thr) c.2629C>A (p.Pro877Thr) c.2575C>A (p.Pro859Thr) c.2548C>A (p.Pro850Thr) c.2533C>A (p.Pro845Thr) c.2140C>A (p.Pro714Thr) c.2602C>A (p.Pro868Thr) c.2539C>A (p.Pro847Thr) c.2536C>A (p.Pro846Thr) c.2494C>A (p.Pro832Thr) c.1567C>A (p.Pro523Thr) | gnomAD v4 |
20 | g.63406713C>A | CA511339213 | KCNQ2 | c.2604G>T (p.Gly868=) c.2550G>T (p.Gly850=) c.1947G>T (p.Gly649=) c.2457G>T (p.Gly819=) c.2118G>T (p.Gly706=) c.2466G>T (p.Gly822=) c.2241+333G>T (n.2241+333G>T) c.2205+333G>T (n.2205+333G>T) c.2496G>T (p.Gly832=) c.2133+333G>T (n.2133+333G>T) c.1680-5870G>T (n.1680-5870G>T) c.2592G>T (p.Gly864=) c.2658G>T (p.Gly886=) c.2655G>T (p.Gly885=) c.2628G>T (p.Gly876=) c.2574G>T (p.Gly858=) c.2547G>T (p.Gly849=) c.2532G>T (p.Gly844=) c.2139G>T (p.Gly713=) c.2601G>T (p.Gly867=) c.2538G>T (p.Gly846=) c.2535G>T (p.Gly845=) c.2493G>T (p.Gly831=) c.1566G>T (p.Gly522=) | gnomAD v4 |
20 | g.63406713C= | CA2374774213 | KCNQ2 | c.2604G= (p.Gly868=) c.2550G= (p.Gly850=) c.1947G= (p.Gly649=) c.2457G= (p.Gly819=) c.2118G= (p.Gly706=) c.2466G= (p.Gly822=) c.2241+333G= (n.2241+333G=) c.2205+333G= (n.2205+333G=) c.2496G= (p.Gly832=) c.2133+333G= (n.2133+333G=) c.1680-5870G= (n.1680-5870G=) c.2592G= (p.Gly864=) c.2658G= (p.Gly886=) c.2655G= (p.Gly885=) c.2628G= (p.Gly876=) c.2574G= (p.Gly858=) c.2547G= (p.Gly849=) c.2532G= (p.Gly844=) c.2139G= (p.Gly713=) c.2601G= (p.Gly867=) c.2538G= (p.Gly846=) c.2535G= (p.Gly845=) c.2493G= (p.Gly831=) c.1566G= (p.Gly522=) | |
20 | g.63406713C>G | CA9958058 | KCNQ2 | c.2604G>C (p.Gly868=) c.2550G>C (p.Gly850=) c.1947G>C (p.Gly649=) c.2457G>C (p.Gly819=) c.2118G>C (p.Gly706=) c.2466G>C (p.Gly822=) c.2241+333G>C (n.2241+333G>C) c.2205+333G>C (n.2205+333G>C) c.2496G>C (p.Gly832=) c.2133+333G>C (n.2133+333G>C) c.1680-5870G>C (n.1680-5870G>C) c.2592G>C (p.Gly864=) c.2658G>C (p.Gly886=) c.2655G>C (p.Gly885=) c.2628G>C (p.Gly876=) c.2574G>C (p.Gly858=) c.2547G>C (p.Gly849=) c.2532G>C (p.Gly844=) c.2139G>C (p.Gly713=) c.2601G>C (p.Gly867=) c.2538G>C (p.Gly846=) c.2535G>C (p.Gly845=) c.2493G>C (p.Gly831=) c.1566G>C (p.Gly522=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406713C>T | CA511339212 | KCNQ2 | c.2604G>A (p.Gly868=) c.2550G>A (p.Gly850=) c.1947G>A (p.Gly649=) c.2457G>A (p.Gly819=) c.2118G>A (p.Gly706=) c.2466G>A (p.Gly822=) c.2241+333G>A (n.2241+333G>A) c.2205+333G>A (n.2205+333G>A) c.2496G>A (p.Gly832=) c.2133+333G>A (n.2133+333G>A) c.1680-5870G>A (n.1680-5870G>A) c.2592G>A (p.Gly864=) c.2658G>A (p.Gly886=) c.2655G>A (p.Gly885=) c.2628G>A (p.Gly876=) c.2574G>A (p.Gly858=) c.2547G>A (p.Gly849=) c.2532G>A (p.Gly844=) c.2139G>A (p.Gly713=) c.2601G>A (p.Gly867=) c.2538G>A (p.Gly846=) c.2535G>A (p.Gly845=) c.2493G>A (p.Gly831=) c.1566G>A (p.Gly522=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406715del | CA2842871700 | KCNQ2 | c.2604del (p.Pro870ArgfsTer?) c.2550del (p.Pro852ArgfsTer?) c.1947del (p.Pro651ArgfsTer?) c.2457del (p.Pro821ArgfsTer?) c.2118del (p.Pro708ArgfsTer?) c.2466del (p.Pro824ArgfsTer?) c.2241+333del (n.2241+333del) c.2205+333del (n.2205+333del) c.2496del (p.Pro834ArgfsTer?) c.2133+333del (n.2133+333del) c.1680-5870del (n.1680-5870del) c.2592del (p.Pro866ArgfsTer?) c.2658del (p.Pro888ArgfsTer?) c.2655del (p.Pro887ArgfsTer?) c.2628del (p.Pro878ArgfsTer?) c.2574del (p.Pro860ArgfsTer?) c.2547del (p.Pro851ArgfsTer?) c.2532del (p.Pro846ArgfsTer?) c.2139del (p.Pro715ArgfsTer?) c.2601del (p.Pro869ArgfsTer?) c.2538del (p.Pro848ArgfsTer?) c.2535del (p.Pro847ArgfsTer?) c.2493del (p.Pro833ArgfsTer?) c.1566del (p.Pro524ArgfsTer?) | |
20 | g.63406714C>A | CA409636588 | KCNQ2 | c.2603G>T (p.Gly868Val) c.2549G>T (p.Gly850Val) c.1946G>T (p.Gly649Val) c.2456G>T (p.Gly819Val) c.2117G>T (p.Gly706Val) c.2465G>T (p.Gly822Val) c.2241+332G>T (n.2241+332G>T) c.2205+332G>T (n.2205+332G>T) c.2495G>T (p.Gly832Val) c.2133+332G>T (n.2133+332G>T) c.1680-5871G>T (n.1680-5871G>T) c.2591G>T (p.Gly864Val) c.2657G>T (p.Gly886Val) c.2654G>T (p.Gly885Val) c.2627G>T (p.Gly876Val) c.2573G>T (p.Gly858Val) c.2546G>T (p.Gly849Val) c.2531G>T (p.Gly844Val) c.2138G>T (p.Gly713Val) c.2600G>T (p.Gly867Val) c.2537G>T (p.Gly846Val) c.2534G>T (p.Gly845Val) c.2492G>T (p.Gly831Val) c.1565G>T (p.Gly522Val) | |
20 | g.63406714C>G | CA409636590 | KCNQ2 | c.2603G>C (p.Gly868Ala) c.2549G>C (p.Gly850Ala) c.1946G>C (p.Gly649Ala) c.2456G>C (p.Gly819Ala) c.2117G>C (p.Gly706Ala) c.2465G>C (p.Gly822Ala) c.2241+332G>C (n.2241+332G>C) c.2205+332G>C (n.2205+332G>C) c.2495G>C (p.Gly832Ala) c.2133+332G>C (n.2133+332G>C) c.1680-5871G>C (n.1680-5871G>C) c.2591G>C (p.Gly864Ala) c.2657G>C (p.Gly886Ala) c.2654G>C (p.Gly885Ala) c.2627G>C (p.Gly876Ala) c.2573G>C (p.Gly858Ala) c.2546G>C (p.Gly849Ala) c.2531G>C (p.Gly844Ala) c.2138G>C (p.Gly713Ala) c.2600G>C (p.Gly867Ala) c.2537G>C (p.Gly846Ala) c.2534G>C (p.Gly845Ala) c.2492G>C (p.Gly831Ala) c.1565G>C (p.Gly522Ala) | |
20 | g.63406714C>T | CA409636586 | KCNQ2 | c.2603G>A (p.Gly868Glu) c.2549G>A (p.Gly850Glu) c.1946G>A (p.Gly649Glu) c.2456G>A (p.Gly819Glu) c.2117G>A (p.Gly706Glu) c.2465G>A (p.Gly822Glu) c.2241+332G>A (n.2241+332G>A) c.2205+332G>A (n.2205+332G>A) c.2495G>A (p.Gly832Glu) c.2133+332G>A (n.2133+332G>A) c.1680-5871G>A (n.1680-5871G>A) c.2591G>A (p.Gly864Glu) c.2657G>A (p.Gly886Glu) c.2654G>A (p.Gly885Glu) c.2627G>A (p.Gly876Glu) c.2573G>A (p.Gly858Glu) c.2546G>A (p.Gly849Glu) c.2531G>A (p.Gly844Glu) c.2138G>A (p.Gly713Glu) c.2600G>A (p.Gly867Glu) c.2537G>A (p.Gly846Glu) c.2534G>A (p.Gly845Glu) c.2492G>A (p.Gly831Glu) c.1565G>A (p.Gly522Glu) | |
20 | g.63406715C>A | CA409636592 | KCNQ2 | c.2602G>T (p.Gly868Trp) c.2548G>T (p.Gly850Trp) c.1945G>T (p.Gly649Trp) c.2455G>T (p.Gly819Trp) c.2116G>T (p.Gly706Trp) c.2464G>T (p.Gly822Trp) c.2241+331G>T (n.2241+331G>T) c.2205+331G>T (n.2205+331G>T) c.2494G>T (p.Gly832Trp) c.2133+331G>T (n.2133+331G>T) c.1680-5872G>T (n.1680-5872G>T) c.2590G>T (p.Gly864Trp) c.2656G>T (p.Gly886Trp) c.2653G>T (p.Gly885Trp) c.2626G>T (p.Gly876Trp) c.2572G>T (p.Gly858Trp) c.2545G>T (p.Gly849Trp) c.2530G>T (p.Gly844Trp) c.2137G>T (p.Gly713Trp) c.2599G>T (p.Gly867Trp) c.2536G>T (p.Gly846Trp) c.2533G>T (p.Gly845Trp) c.2491G>T (p.Gly831Trp) c.1564G>T (p.Gly522Trp) | |
20 | g.63406715C= | CA2374774214 | KCNQ2 | c.2602G= (p.Gly868=) c.2548G= (p.Gly850=) c.1945G= (p.Gly649=) c.2455G= (p.Gly819=) c.2116G= (p.Gly706=) c.2464G= (p.Gly822=) c.2241+331G= (n.2241+331G=) c.2205+331G= (n.2205+331G=) c.2494G= (p.Gly832=) c.2133+331G= (n.2133+331G=) c.1680-5872G= (n.1680-5872G=) c.2590G= (p.Gly864=) c.2656G= (p.Gly886=) c.2653G= (p.Gly885=) c.2626G= (p.Gly876=) c.2572G= (p.Gly858=) c.2545G= (p.Gly849=) c.2530G= (p.Gly844=) c.2137G= (p.Gly713=) c.2599G= (p.Gly867=) c.2536G= (p.Gly846=) c.2533G= (p.Gly845=) c.2491G= (p.Gly831=) c.1564G= (p.Gly522=) | |
20 | g.63406715C>G | CA409636594 | KCNQ2 | c.2602G>C (p.Gly868Arg) c.2548G>C (p.Gly850Arg) c.1945G>C (p.Gly649Arg) c.2455G>C (p.Gly819Arg) c.2116G>C (p.Gly706Arg) c.2464G>C (p.Gly822Arg) c.2241+331G>C (n.2241+331G>C) c.2205+331G>C (n.2205+331G>C) c.2494G>C (p.Gly832Arg) c.2133+331G>C (n.2133+331G>C) c.1680-5872G>C (n.1680-5872G>C) c.2590G>C (p.Gly864Arg) c.2656G>C (p.Gly886Arg) c.2653G>C (p.Gly885Arg) c.2626G>C (p.Gly876Arg) c.2572G>C (p.Gly858Arg) c.2545G>C (p.Gly849Arg) c.2530G>C (p.Gly844Arg) c.2137G>C (p.Gly713Arg) c.2599G>C (p.Gly867Arg) c.2536G>C (p.Gly846Arg) c.2533G>C (p.Gly845Arg) c.2491G>C (p.Gly831Arg) c.1564G>C (p.Gly522Arg) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63406715C>T | CA9958059 | KCNQ2 | c.2602G>A (p.Gly868Arg) c.2548G>A (p.Gly850Arg) c.1945G>A (p.Gly649Arg) c.2455G>A (p.Gly819Arg) c.2116G>A (p.Gly706Arg) c.2464G>A (p.Gly822Arg) c.2241+331G>A (n.2241+331G>A) c.2205+331G>A (n.2205+331G>A) c.2494G>A (p.Gly832Arg) c.2133+331G>A (n.2133+331G>A) c.1680-5872G>A (n.1680-5872G>A) c.2590G>A (p.Gly864Arg) c.2656G>A (p.Gly886Arg) c.2653G>A (p.Gly885Arg) c.2626G>A (p.Gly876Arg) c.2572G>A (p.Gly858Arg) c.2545G>A (p.Gly849Arg) c.2530G>A (p.Gly844Arg) c.2137G>A (p.Gly713Arg) c.2599G>A (p.Gly867Arg) c.2536G>A (p.Gly846Arg) c.2533G>A (p.Gly845Arg) c.2491G>A (p.Gly831Arg) c.1564G>A (p.Gly522Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63406716G>A | CA9958060 | KCNQ2 | c.2601C>T (p.Cys867=) c.2547C>T (p.Cys849=) c.1944C>T (p.Cys648=) c.2454C>T (p.Cys818=) c.2115C>T (p.Cys705=) c.2463C>T (p.Cys821=) c.2241+330C>T (n.2241+330C>T) c.2205+330C>T (n.2205+330C>T) c.2493C>T (p.Cys831=) c.2133+330C>T (n.2133+330C>T) c.1680-5873C>T (n.1680-5873C>T) c.2589C>T (p.Cys863=) c.2655C>T (p.Cys885=) c.2652C>T (p.Cys884=) c.2625C>T (p.Cys875=) c.2571C>T (p.Cys857=) c.2544C>T (p.Cys848=) c.2529C>T (p.Cys843=) c.2136C>T (p.Cys712=) c.2598C>T (p.Cys866=) c.2535C>T (p.Cys845=) c.2532C>T (p.Cys844=) c.2490C>T (p.Cys830=) c.1563C>T (p.Cys521=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406716G>C | CA409636598 | KCNQ2 | c.2601C>G (p.Cys867Trp) c.2547C>G (p.Cys849Trp) c.1944C>G (p.Cys648Trp) c.2454C>G (p.Cys818Trp) c.2115C>G (p.Cys705Trp) c.2463C>G (p.Cys821Trp) c.2241+330C>G (n.2241+330C>G) c.2205+330C>G (n.2205+330C>G) c.2493C>G (p.Cys831Trp) c.2133+330C>G (n.2133+330C>G) c.1680-5873C>G (n.1680-5873C>G) c.2589C>G (p.Cys863Trp) c.2655C>G (p.Cys885Trp) c.2652C>G (p.Cys884Trp) c.2625C>G (p.Cys875Trp) c.2571C>G (p.Cys857Trp) c.2544C>G (p.Cys848Trp) c.2529C>G (p.Cys843Trp) c.2136C>G (p.Cys712Trp) c.2598C>G (p.Cys866Trp) c.2535C>G (p.Cys845Trp) c.2532C>G (p.Cys844Trp) c.2490C>G (p.Cys830Trp) c.1563C>G (p.Cys521Trp) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406716G= | CA2374774215 | KCNQ2 | c.2601C= (p.Cys867=) c.2547C= (p.Cys849=) c.1944C= (p.Cys648=) c.2454C= (p.Cys818=) c.2115C= (p.Cys705=) c.2463C= (p.Cys821=) c.2241+330C= (n.2241+330C=) c.2205+330C= (n.2205+330C=) c.2493C= (p.Cys831=) c.2133+330C= (n.2133+330C=) c.1680-5873C= (n.1680-5873C=) c.2589C= (p.Cys863=) c.2655C= (p.Cys885=) c.2652C= (p.Cys884=) c.2625C= (p.Cys875=) c.2571C= (p.Cys857=) c.2544C= (p.Cys848=) c.2529C= (p.Cys843=) c.2136C= (p.Cys712=) c.2598C= (p.Cys866=) c.2535C= (p.Cys845=) c.2532C= (p.Cys844=) c.2490C= (p.Cys830=) c.1563C= (p.Cys521=) | |
20 | g.63406716G>T | CA409636600 | KCNQ2 | c.2601C>A (p.Cys867Ter) c.2547C>A (p.Cys849Ter) c.1944C>A (p.Cys648Ter) c.2454C>A (p.Cys818Ter) c.2115C>A (p.Cys705Ter) c.2463C>A (p.Cys821Ter) c.2241+330C>A (n.2241+330C>A) c.2205+330C>A (n.2205+330C>A) c.2493C>A (p.Cys831Ter) c.2133+330C>A (n.2133+330C>A) c.1680-5873C>A (n.1680-5873C>A) c.2589C>A (p.Cys863Ter) c.2655C>A (p.Cys885Ter) c.2652C>A (p.Cys884Ter) c.2625C>A (p.Cys875Ter) c.2571C>A (p.Cys857Ter) c.2544C>A (p.Cys848Ter) c.2529C>A (p.Cys843Ter) c.2136C>A (p.Cys712Ter) c.2598C>A (p.Cys866Ter) c.2535C>A (p.Cys845Ter) c.2532C>A (p.Cys844Ter) c.2490C>A (p.Cys830Ter) c.1563C>A (p.Cys521Ter) | gnomAD v4 |
20 | g.63406717C>A | CA9958061 | KCNQ2 | c.2600G>T (p.Cys867Phe) c.2546G>T (p.Cys849Phe) c.1943G>T (p.Cys648Phe) c.2453G>T (p.Cys818Phe) c.2114G>T (p.Cys705Phe) c.2462G>T (p.Cys821Phe) c.2241+329G>T (n.2241+329G>T) c.2205+329G>T (n.2205+329G>T) c.2492G>T (p.Cys831Phe) c.2133+329G>T (n.2133+329G>T) c.1680-5874G>T (n.1680-5874G>T) c.2588G>T (p.Cys863Phe) c.2654G>T (p.Cys885Phe) c.2651G>T (p.Cys884Phe) c.2624G>T (p.Cys875Phe) c.2570G>T (p.Cys857Phe) c.2543G>T (p.Cys848Phe) c.2528G>T (p.Cys843Phe) c.2135G>T (p.Cys712Phe) c.2597G>T (p.Cys866Phe) c.2534G>T (p.Cys845Phe) c.2531G>T (p.Cys844Phe) c.2489G>T (p.Cys830Phe) c.1562G>T (p.Cys521Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406717C= | CA2374774216 | KCNQ2 | c.2600G= (p.Cys867=) c.2546G= (p.Cys849=) c.1943G= (p.Cys648=) c.2453G= (p.Cys818=) c.2114G= (p.Cys705=) c.2462G= (p.Cys821=) c.2241+329G= (n.2241+329G=) c.2205+329G= (n.2205+329G=) c.2492G= (p.Cys831=) c.2133+329G= (n.2133+329G=) c.1680-5874G= (n.1680-5874G=) c.2588G= (p.Cys863=) c.2654G= (p.Cys885=) c.2651G= (p.Cys884=) c.2624G= (p.Cys875=) c.2570G= (p.Cys857=) c.2543G= (p.Cys848=) c.2528G= (p.Cys843=) c.2135G= (p.Cys712=) c.2597G= (p.Cys866=) c.2534G= (p.Cys845=) c.2531G= (p.Cys844=) c.2489G= (p.Cys830=) c.1562G= (p.Cys521=) | |
20 | g.63406717C>G | CA409636605 | KCNQ2 | c.2600G>C (p.Cys867Ser) c.2546G>C (p.Cys849Ser) c.1943G>C (p.Cys648Ser) c.2453G>C (p.Cys818Ser) c.2114G>C (p.Cys705Ser) c.2462G>C (p.Cys821Ser) c.2241+329G>C (n.2241+329G>C) c.2205+329G>C (n.2205+329G>C) c.2492G>C (p.Cys831Ser) c.2133+329G>C (n.2133+329G>C) c.1680-5874G>C (n.1680-5874G>C) c.2588G>C (p.Cys863Ser) c.2654G>C (p.Cys885Ser) c.2651G>C (p.Cys884Ser) c.2624G>C (p.Cys875Ser) c.2570G>C (p.Cys857Ser) c.2543G>C (p.Cys848Ser) c.2528G>C (p.Cys843Ser) c.2135G>C (p.Cys712Ser) c.2597G>C (p.Cys866Ser) c.2534G>C (p.Cys845Ser) c.2531G>C (p.Cys844Ser) c.2489G>C (p.Cys830Ser) c.1562G>C (p.Cys521Ser) | |
20 | g.63406717C>T | CA409636603 | KCNQ2 | c.2600G>A (p.Cys867Tyr) c.2546G>A (p.Cys849Tyr) c.1943G>A (p.Cys648Tyr) c.2453G>A (p.Cys818Tyr) c.2114G>A (p.Cys705Tyr) c.2462G>A (p.Cys821Tyr) c.2241+329G>A (n.2241+329G>A) c.2205+329G>A (n.2205+329G>A) c.2492G>A (p.Cys831Tyr) c.2133+329G>A (n.2133+329G>A) c.1680-5874G>A (n.1680-5874G>A) c.2588G>A (p.Cys863Tyr) c.2654G>A (p.Cys885Tyr) c.2651G>A (p.Cys884Tyr) c.2624G>A (p.Cys875Tyr) c.2570G>A (p.Cys857Tyr) c.2543G>A (p.Cys848Tyr) c.2528G>A (p.Cys843Tyr) c.2135G>A (p.Cys712Tyr) c.2597G>A (p.Cys866Tyr) c.2534G>A (p.Cys845Tyr) c.2531G>A (p.Cys844Tyr) c.2489G>A (p.Cys830Tyr) c.1562G>A (p.Cys521Tyr) | |
20 | g.63406718A>C | CA409636608 | KCNQ2 | c.2599T>G (p.Cys867Gly) c.2545T>G (p.Cys849Gly) c.1942T>G (p.Cys648Gly) c.2452T>G (p.Cys818Gly) c.2113T>G (p.Cys705Gly) c.2461T>G (p.Cys821Gly) c.2241+328T>G (n.2241+328T>G) c.2205+328T>G (n.2205+328T>G) c.2491T>G (p.Cys831Gly) c.2133+328T>G (n.2133+328T>G) c.1680-5875T>G (n.1680-5875T>G) c.2587T>G (p.Cys863Gly) c.2653T>G (p.Cys885Gly) c.2650T>G (p.Cys884Gly) c.2623T>G (p.Cys875Gly) c.2569T>G (p.Cys857Gly) c.2542T>G (p.Cys848Gly) c.2527T>G (p.Cys843Gly) c.2134T>G (p.Cys712Gly) c.2596T>G (p.Cys866Gly) c.2533T>G (p.Cys845Gly) c.2530T>G (p.Cys844Gly) c.2488T>G (p.Cys830Gly) c.1561T>G (p.Cys521Gly) | |
20 | g.63406718A>G | CA409636610 | KCNQ2 | c.2599T>C (p.Cys867Arg) c.2545T>C (p.Cys849Arg) c.1942T>C (p.Cys648Arg) c.2452T>C (p.Cys818Arg) c.2113T>C (p.Cys705Arg) c.2461T>C (p.Cys821Arg) c.2241+328T>C (n.2241+328T>C) c.2205+328T>C (n.2205+328T>C) c.2491T>C (p.Cys831Arg) c.2133+328T>C (n.2133+328T>C) c.1680-5875T>C (n.1680-5875T>C) c.2587T>C (p.Cys863Arg) c.2653T>C (p.Cys885Arg) c.2650T>C (p.Cys884Arg) c.2623T>C (p.Cys875Arg) c.2569T>C (p.Cys857Arg) c.2542T>C (p.Cys848Arg) c.2527T>C (p.Cys843Arg) c.2134T>C (p.Cys712Arg) c.2596T>C (p.Cys866Arg) c.2533T>C (p.Cys845Arg) c.2530T>C (p.Cys844Arg) c.2488T>C (p.Cys830Arg) c.1561T>C (p.Cys521Arg) | gnomAD v4 |
20 | g.63406718A>T | CA409636611 | KCNQ2 | c.2599T>A (p.Cys867Ser) c.2545T>A (p.Cys849Ser) c.1942T>A (p.Cys648Ser) c.2452T>A (p.Cys818Ser) c.2113T>A (p.Cys705Ser) c.2461T>A (p.Cys821Ser) c.2241+328T>A (n.2241+328T>A) c.2205+328T>A (n.2205+328T>A) c.2491T>A (p.Cys831Ser) c.2133+328T>A (n.2133+328T>A) c.1680-5875T>A (n.1680-5875T>A) c.2587T>A (p.Cys863Ser) c.2653T>A (p.Cys885Ser) c.2650T>A (p.Cys884Ser) c.2623T>A (p.Cys875Ser) c.2569T>A (p.Cys857Ser) c.2542T>A (p.Cys848Ser) c.2527T>A (p.Cys843Ser) c.2134T>A (p.Cys712Ser) c.2596T>A (p.Cys866Ser) c.2533T>A (p.Cys845Ser) c.2530T>A (p.Cys844Ser) c.2488T>A (p.Cys830Ser) c.1561T>A (p.Cys521Ser) | |
20 | g.63406719C>A | CA511339214 | KCNQ2 | c.2598G>T (p.Pro866=) c.2544G>T (p.Pro848=) c.1941G>T (p.Pro647=) c.2451G>T (p.Pro817=) c.2112G>T (p.Pro704=) c.2460G>T (p.Pro820=) c.2241+327G>T (n.2241+327G>T) c.2205+327G>T (n.2205+327G>T) c.2490G>T (p.Pro830=) c.2133+327G>T (n.2133+327G>T) c.1680-5876G>T (n.1680-5876G>T) c.2586G>T (p.Pro862=) c.2652G>T (p.Pro884=) c.2649G>T (p.Pro883=) c.2622G>T (p.Pro874=) c.2568G>T (p.Pro856=) c.2541G>T (p.Pro847=) c.2526G>T (p.Pro842=) c.2133G>T (p.Pro711=) c.2595G>T (p.Pro865=) c.2532G>T (p.Pro844=) c.2529G>T (p.Pro843=) c.2487G>T (p.Pro829=) c.1560G>T (p.Pro520=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406719C= | CA2374774217 | KCNQ2 | c.2598G= (p.Pro866=) c.2544G= (p.Pro848=) c.1941G= (p.Pro647=) c.2451G= (p.Pro817=) c.2112G= (p.Pro704=) c.2460G= (p.Pro820=) c.2241+327G= (n.2241+327G=) c.2205+327G= (n.2205+327G=) c.2490G= (p.Pro830=) c.2133+327G= (n.2133+327G=) c.1680-5876G= (n.1680-5876G=) c.2586G= (p.Pro862=) c.2652G= (p.Pro884=) c.2649G= (p.Pro883=) c.2622G= (p.Pro874=) c.2568G= (p.Pro856=) c.2541G= (p.Pro847=) c.2526G= (p.Pro842=) c.2133G= (p.Pro711=) c.2595G= (p.Pro865=) c.2532G= (p.Pro844=) c.2529G= (p.Pro843=) c.2487G= (p.Pro829=) c.1560G= (p.Pro520=) | |
20 | g.63406719C>G | CA511339215 | KCNQ2 | c.2598G>C (p.Pro866=) c.2544G>C (p.Pro848=) c.1941G>C (p.Pro647=) c.2451G>C (p.Pro817=) c.2112G>C (p.Pro704=) c.2460G>C (p.Pro820=) c.2241+327G>C (n.2241+327G>C) c.2205+327G>C (n.2205+327G>C) c.2490G>C (p.Pro830=) c.2133+327G>C (n.2133+327G>C) c.1680-5876G>C (n.1680-5876G>C) c.2586G>C (p.Pro862=) c.2652G>C (p.Pro884=) c.2649G>C (p.Pro883=) c.2622G>C (p.Pro874=) c.2568G>C (p.Pro856=) c.2541G>C (p.Pro847=) c.2526G>C (p.Pro842=) c.2133G>C (p.Pro711=) c.2595G>C (p.Pro865=) c.2532G>C (p.Pro844=) c.2529G>C (p.Pro843=) c.2487G>C (p.Pro829=) c.1560G>C (p.Pro520=) | |
20 | g.63406719C>T | CA291818 | KCNQ2 | c.2598G>A (p.Pro866=) c.2544G>A (p.Pro848=) c.1941G>A (p.Pro647=) c.2451G>A (p.Pro817=) c.2112G>A (p.Pro704=) c.2460G>A (p.Pro820=) c.2241+327G>A (n.2241+327G>A) c.2205+327G>A (n.2205+327G>A) c.2490G>A (p.Pro830=) c.2133+327G>A (n.2133+327G>A) c.1680-5876G>A (n.1680-5876G>A) c.2586G>A (p.Pro862=) c.2652G>A (p.Pro884=) c.2649G>A (p.Pro883=) c.2622G>A (p.Pro874=) c.2568G>A (p.Pro856=) c.2541G>A (p.Pro847=) c.2526G>A (p.Pro842=) c.2133G>A (p.Pro711=) c.2595G>A (p.Pro865=) c.2532G>A (p.Pro844=) c.2529G>A (p.Pro843=) c.2487G>A (p.Pro829=) c.1560G>A (p.Pro520=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406720G>A | CA315533 | KCNQ2 | c.2597C>T (p.Pro866Leu) c.2543C>T (p.Pro848Leu) c.1940C>T (p.Pro647Leu) c.2450C>T (p.Pro817Leu) c.2111C>T (p.Pro704Leu) c.2459C>T (p.Pro820Leu) c.2241+326C>T (n.2241+326C>T) c.2205+326C>T (n.2205+326C>T) c.2489C>T (p.Pro830Leu) c.2133+326C>T (n.2133+326C>T) c.1680-5877C>T (n.1680-5877C>T) c.2585C>T (p.Pro862Leu) c.2651C>T (p.Pro884Leu) c.2648C>T (p.Pro883Leu) c.2621C>T (p.Pro874Leu) c.2567C>T (p.Pro856Leu) c.2540C>T (p.Pro847Leu) c.2525C>T (p.Pro842Leu) c.2132C>T (p.Pro711Leu) c.2594C>T (p.Pro865Leu) c.2531C>T (p.Pro844Leu) c.2528C>T (p.Pro843Leu) c.2486C>T (p.Pro829Leu) c.1559C>T (p.Pro520Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406720G>C | CA409636617 | KCNQ2 | c.2597C>G (p.Pro866Arg) c.2543C>G (p.Pro848Arg) c.1940C>G (p.Pro647Arg) c.2450C>G (p.Pro817Arg) c.2111C>G (p.Pro704Arg) c.2459C>G (p.Pro820Arg) c.2241+326C>G (n.2241+326C>G) c.2205+326C>G (n.2205+326C>G) c.2489C>G (p.Pro830Arg) c.2133+326C>G (n.2133+326C>G) c.1680-5877C>G (n.1680-5877C>G) c.2585C>G (p.Pro862Arg) c.2651C>G (p.Pro884Arg) c.2648C>G (p.Pro883Arg) c.2621C>G (p.Pro874Arg) c.2567C>G (p.Pro856Arg) c.2540C>G (p.Pro847Arg) c.2525C>G (p.Pro842Arg) c.2132C>G (p.Pro711Arg) c.2594C>G (p.Pro865Arg) c.2531C>G (p.Pro844Arg) c.2528C>G (p.Pro843Arg) c.2486C>G (p.Pro829Arg) c.1559C>G (p.Pro520Arg) | |
20 | g.63406720G= | CA2374774218 | KCNQ2 | c.2597C= (p.Pro866=) c.2543C= (p.Pro848=) c.1940C= (p.Pro647=) c.2450C= (p.Pro817=) c.2111C= (p.Pro704=) c.2459C= (p.Pro820=) c.2241+326C= (n.2241+326C=) c.2205+326C= (n.2205+326C=) c.2489C= (p.Pro830=) c.2133+326C= (n.2133+326C=) c.1680-5877C= (n.1680-5877C=) c.2585C= (p.Pro862=) c.2651C= (p.Pro884=) c.2648C= (p.Pro883=) c.2621C= (p.Pro874=) c.2567C= (p.Pro856=) c.2540C= (p.Pro847=) c.2525C= (p.Pro842=) c.2132C= (p.Pro711=) c.2594C= (p.Pro865=) c.2531C= (p.Pro844=) c.2528C= (p.Pro843=) c.2486C= (p.Pro829=) c.1559C= (p.Pro520=) | |
20 | g.63406720G>T | CA409636615 | KCNQ2 | c.2597C>A (p.Pro866Gln) c.2543C>A (p.Pro848Gln) c.1940C>A (p.Pro647Gln) c.2450C>A (p.Pro817Gln) c.2111C>A (p.Pro704Gln) c.2459C>A (p.Pro820Gln) c.2241+326C>A (n.2241+326C>A) c.2205+326C>A (n.2205+326C>A) c.2489C>A (p.Pro830Gln) c.2133+326C>A (n.2133+326C>A) c.1680-5877C>A (n.1680-5877C>A) c.2585C>A (p.Pro862Gln) c.2651C>A (p.Pro884Gln) c.2648C>A (p.Pro883Gln) c.2621C>A (p.Pro874Gln) c.2567C>A (p.Pro856Gln) c.2540C>A (p.Pro847Gln) c.2525C>A (p.Pro842Gln) c.2132C>A (p.Pro711Gln) c.2594C>A (p.Pro865Gln) c.2531C>A (p.Pro844Gln) c.2528C>A (p.Pro843Gln) c.2486C>A (p.Pro829Gln) c.1559C>A (p.Pro520Gln) | |
20 | g.63406723del | CA2838520112 | KCNQ2 | c.2597del (p.Pro866ArgfsTer?) c.2543del (p.Pro848ArgfsTer?) c.1940del (p.Pro647ArgfsTer?) c.2450del (p.Pro817ArgfsTer?) c.2111del (p.Pro704ArgfsTer?) c.2459del (p.Pro820ArgfsTer?) c.2241+326del (n.2241+326del) c.2205+326del (n.2205+326del) c.2489del (p.Pro830ArgfsTer?) c.2133+326del (n.2133+326del) c.1680-5877del (n.1680-5877del) c.2585del (p.Pro862ArgfsTer?) c.2651del (p.Pro884ArgfsTer?) c.2648del (p.Pro883ArgfsTer?) c.2621del (p.Pro874ArgfsTer?) c.2567del (p.Pro856ArgfsTer?) c.2540del (p.Pro847ArgfsTer?) c.2525del (p.Pro842ArgfsTer?) c.2132del (p.Pro711ArgfsTer?) c.2594del (p.Pro865ArgfsTer?) c.2531del (p.Pro844ArgfsTer?) c.2528del (p.Pro843ArgfsTer?) c.2486del (p.Pro829ArgfsTer?) c.1559del (p.Pro520ArgfsTer?) | |
20 | g.63406721G>A | CA409636620 | KCNQ2 | c.2596C>T (p.Pro866Ser) c.2542C>T (p.Pro848Ser) c.1939C>T (p.Pro647Ser) c.2449C>T (p.Pro817Ser) c.2110C>T (p.Pro704Ser) c.2458C>T (p.Pro820Ser) c.2241+325C>T (n.2241+325C>T) c.2205+325C>T (n.2205+325C>T) c.2488C>T (p.Pro830Ser) c.2133+325C>T (n.2133+325C>T) c.1680-5878C>T (n.1680-5878C>T) c.2584C>T (p.Pro862Ser) c.2650C>T (p.Pro884Ser) c.2647C>T (p.Pro883Ser) c.2620C>T (p.Pro874Ser) c.2566C>T (p.Pro856Ser) c.2539C>T (p.Pro847Ser) c.2524C>T (p.Pro842Ser) c.2131C>T (p.Pro711Ser) c.2593C>T (p.Pro865Ser) c.2530C>T (p.Pro844Ser) c.2527C>T (p.Pro843Ser) c.2485C>T (p.Pro829Ser) c.1558C>T (p.Pro520Ser) | |
20 | g.63406721G>C | CA409636621 | KCNQ2 | c.2596C>G (p.Pro866Ala) c.2542C>G (p.Pro848Ala) c.1939C>G (p.Pro647Ala) c.2449C>G (p.Pro817Ala) c.2110C>G (p.Pro704Ala) c.2458C>G (p.Pro820Ala) c.2241+325C>G (n.2241+325C>G) c.2205+325C>G (n.2205+325C>G) c.2488C>G (p.Pro830Ala) c.2133+325C>G (n.2133+325C>G) c.1680-5878C>G (n.1680-5878C>G) c.2584C>G (p.Pro862Ala) c.2650C>G (p.Pro884Ala) c.2647C>G (p.Pro883Ala) c.2620C>G (p.Pro874Ala) c.2566C>G (p.Pro856Ala) c.2539C>G (p.Pro847Ala) c.2524C>G (p.Pro842Ala) c.2131C>G (p.Pro711Ala) c.2593C>G (p.Pro865Ala) c.2530C>G (p.Pro844Ala) c.2527C>G (p.Pro843Ala) c.2485C>G (p.Pro829Ala) c.1558C>G (p.Pro520Ala) | |
20 | g.63406721G>T | CA409636622 | KCNQ2 | c.2596C>A (p.Pro866Thr) c.2542C>A (p.Pro848Thr) c.1939C>A (p.Pro647Thr) c.2449C>A (p.Pro817Thr) c.2110C>A (p.Pro704Thr) c.2458C>A (p.Pro820Thr) c.2241+325C>A (n.2241+325C>A) c.2205+325C>A (n.2205+325C>A) c.2488C>A (p.Pro830Thr) c.2133+325C>A (n.2133+325C>A) c.1680-5878C>A (n.1680-5878C>A) c.2584C>A (p.Pro862Thr) c.2650C>A (p.Pro884Thr) c.2647C>A (p.Pro883Thr) c.2620C>A (p.Pro874Thr) c.2566C>A (p.Pro856Thr) c.2539C>A (p.Pro847Thr) c.2524C>A (p.Pro842Thr) c.2131C>A (p.Pro711Thr) c.2593C>A (p.Pro865Thr) c.2530C>A (p.Pro844Thr) c.2527C>A (p.Pro843Thr) c.2485C>A (p.Pro829Thr) c.1558C>A (p.Pro520Thr) | |
20 | g.63406722G>A | CA511339216 | KCNQ2 | c.2595C>T (p.Thr865=) c.2541C>T (p.Thr847=) c.1938C>T (p.Thr646=) c.2448C>T (p.Thr816=) c.2109C>T (p.Thr703=) c.2457C>T (p.Thr819=) c.2241+324C>T (n.2241+324C>T) c.2205+324C>T (n.2205+324C>T) c.2487C>T (p.Thr829=) c.2133+324C>T (n.2133+324C>T) c.1680-5879C>T (n.1680-5879C>T) c.2583C>T (p.Thr861=) c.2649C>T (p.Thr883=) c.2646C>T (p.Thr882=) c.2619C>T (p.Thr873=) c.2565C>T (p.Thr855=) c.2538C>T (p.Thr846=) c.2523C>T (p.Thr841=) c.2130C>T (p.Thr710=) c.2592C>T (p.Thr864=) c.2529C>T (p.Thr843=) c.2526C>T (p.Thr842=) c.2484C>T (p.Thr828=) c.1557C>T (p.Thr519=) | |
20 | g.63406722G>C | CA511339217 | KCNQ2 | c.2595C>G (p.Thr865=) c.2541C>G (p.Thr847=) c.1938C>G (p.Thr646=) c.2448C>G (p.Thr816=) c.2109C>G (p.Thr703=) c.2457C>G (p.Thr819=) c.2241+324C>G (n.2241+324C>G) c.2205+324C>G (n.2205+324C>G) c.2487C>G (p.Thr829=) c.2133+324C>G (n.2133+324C>G) c.1680-5879C>G (n.1680-5879C>G) c.2583C>G (p.Thr861=) c.2649C>G (p.Thr883=) c.2646C>G (p.Thr882=) c.2619C>G (p.Thr873=) c.2565C>G (p.Thr855=) c.2538C>G (p.Thr846=) c.2523C>G (p.Thr841=) c.2130C>G (p.Thr710=) c.2592C>G (p.Thr864=) c.2529C>G (p.Thr843=) c.2526C>G (p.Thr842=) c.2484C>G (p.Thr828=) c.1557C>G (p.Thr519=) | |
20 | g.63406722G>T | CA511339218 | KCNQ2 | c.2595C>A (p.Thr865=) c.2541C>A (p.Thr847=) c.1938C>A (p.Thr646=) c.2448C>A (p.Thr816=) c.2109C>A (p.Thr703=) c.2457C>A (p.Thr819=) c.2241+324C>A (n.2241+324C>A) c.2205+324C>A (n.2205+324C>A) c.2487C>A (p.Thr829=) c.2133+324C>A (n.2133+324C>A) c.1680-5879C>A (n.1680-5879C>A) c.2583C>A (p.Thr861=) c.2649C>A (p.Thr883=) c.2646C>A (p.Thr882=) c.2619C>A (p.Thr873=) c.2565C>A (p.Thr855=) c.2538C>A (p.Thr846=) c.2523C>A (p.Thr841=) c.2130C>A (p.Thr710=) c.2592C>A (p.Thr864=) c.2529C>A (p.Thr843=) c.2526C>A (p.Thr842=) c.2484C>A (p.Thr828=) c.1557C>A (p.Thr519=) | |
20 | g.63406723G>A | CA9958062 | KCNQ2 | c.2594C>T (p.Thr865Ile) c.2540C>T (p.Thr847Ile) c.1937C>T (p.Thr646Ile) c.2447C>T (p.Thr816Ile) c.2108C>T (p.Thr703Ile) c.2456C>T (p.Thr819Ile) c.2241+323C>T (n.2241+323C>T) c.2205+323C>T (n.2205+323C>T) c.2486C>T (p.Thr829Ile) c.2133+323C>T (n.2133+323C>T) c.1680-5880C>T (n.1680-5880C>T) c.2582C>T (p.Thr861Ile) c.2648C>T (p.Thr883Ile) c.2645C>T (p.Thr882Ile) c.2618C>T (p.Thr873Ile) c.2564C>T (p.Thr855Ile) c.2537C>T (p.Thr846Ile) c.2522C>T (p.Thr841Ile) c.2129C>T (p.Thr710Ile) c.2591C>T (p.Thr864Ile) c.2528C>T (p.Thr843Ile) c.2525C>T (p.Thr842Ile) c.2483C>T (p.Thr828Ile) c.1556C>T (p.Thr519Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406723G>C | CA409636626 | KCNQ2 | c.2594C>G (p.Thr865Ser) c.2540C>G (p.Thr847Ser) c.1937C>G (p.Thr646Ser) c.2447C>G (p.Thr816Ser) c.2108C>G (p.Thr703Ser) c.2456C>G (p.Thr819Ser) c.2241+323C>G (n.2241+323C>G) c.2205+323C>G (n.2205+323C>G) c.2486C>G (p.Thr829Ser) c.2133+323C>G (n.2133+323C>G) c.1680-5880C>G (n.1680-5880C>G) c.2582C>G (p.Thr861Ser) c.2648C>G (p.Thr883Ser) c.2645C>G (p.Thr882Ser) c.2618C>G (p.Thr873Ser) c.2564C>G (p.Thr855Ser) c.2537C>G (p.Thr846Ser) c.2522C>G (p.Thr841Ser) c.2129C>G (p.Thr710Ser) c.2591C>G (p.Thr864Ser) c.2528C>G (p.Thr843Ser) c.2525C>G (p.Thr842Ser) c.2483C>G (p.Thr828Ser) c.1556C>G (p.Thr519Ser) | |
20 | g.63406723G= | CA2374774219 | KCNQ2 | c.2594C= (p.Thr865=) c.2540C= (p.Thr847=) c.1937C= (p.Thr646=) c.2447C= (p.Thr816=) c.2108C= (p.Thr703=) c.2456C= (p.Thr819=) c.2241+323C= (n.2241+323C=) c.2205+323C= (n.2205+323C=) c.2486C= (p.Thr829=) c.2133+323C= (n.2133+323C=) c.1680-5880C= (n.1680-5880C=) c.2582C= (p.Thr861=) c.2648C= (p.Thr883=) c.2645C= (p.Thr882=) c.2618C= (p.Thr873=) c.2564C= (p.Thr855=) c.2537C= (p.Thr846=) c.2522C= (p.Thr841=) c.2129C= (p.Thr710=) c.2591C= (p.Thr864=) c.2528C= (p.Thr843=) c.2525C= (p.Thr842=) c.2483C= (p.Thr828=) c.1556C= (p.Thr519=) | |
20 | g.63406723G>T | CA409636628 | KCNQ2 | c.2594C>A (p.Thr865Asn) c.2540C>A (p.Thr847Asn) c.1937C>A (p.Thr646Asn) c.2447C>A (p.Thr816Asn) c.2108C>A (p.Thr703Asn) c.2456C>A (p.Thr819Asn) c.2241+323C>A (n.2241+323C>A) c.2205+323C>A (n.2205+323C>A) c.2486C>A (p.Thr829Asn) c.2133+323C>A (n.2133+323C>A) c.1680-5880C>A (n.1680-5880C>A) c.2582C>A (p.Thr861Asn) c.2648C>A (p.Thr883Asn) c.2645C>A (p.Thr882Asn) c.2618C>A (p.Thr873Asn) c.2564C>A (p.Thr855Asn) c.2537C>A (p.Thr846Asn) c.2522C>A (p.Thr841Asn) c.2129C>A (p.Thr710Asn) c.2591C>A (p.Thr864Asn) c.2528C>A (p.Thr843Asn) c.2525C>A (p.Thr842Asn) c.2483C>A (p.Thr828Asn) c.1556C>A (p.Thr519Asn) | |
20 | g.63406724T>A | CA409636630 | KCNQ2 | c.2593A>T (p.Thr865Ser) c.2539A>T (p.Thr847Ser) c.1936A>T (p.Thr646Ser) c.2446A>T (p.Thr816Ser) c.2107A>T (p.Thr703Ser) c.2455A>T (p.Thr819Ser) c.2241+322A>T (n.2241+322A>T) c.2205+322A>T (n.2205+322A>T) c.2485A>T (p.Thr829Ser) c.2133+322A>T (n.2133+322A>T) c.1680-5881A>T (n.1680-5881A>T) c.2581A>T (p.Thr861Ser) c.2647A>T (p.Thr883Ser) c.2644A>T (p.Thr882Ser) c.2617A>T (p.Thr873Ser) c.2563A>T (p.Thr855Ser) c.2536A>T (p.Thr846Ser) c.2521A>T (p.Thr841Ser) c.2128A>T (p.Thr710Ser) c.2590A>T (p.Thr864Ser) c.2527A>T (p.Thr843Ser) c.2524A>T (p.Thr842Ser) c.2482A>T (p.Thr828Ser) c.1555A>T (p.Thr519Ser) | |
20 | g.63406724T>C | CA409636631 | KCNQ2 | c.2593A>G (p.Thr865Ala) c.2539A>G (p.Thr847Ala) c.1936A>G (p.Thr646Ala) c.2446A>G (p.Thr816Ala) c.2107A>G (p.Thr703Ala) c.2455A>G (p.Thr819Ala) c.2241+322A>G (n.2241+322A>G) c.2205+322A>G (n.2205+322A>G) c.2485A>G (p.Thr829Ala) c.2133+322A>G (n.2133+322A>G) c.1680-5881A>G (n.1680-5881A>G) c.2581A>G (p.Thr861Ala) c.2647A>G (p.Thr883Ala) c.2644A>G (p.Thr882Ala) c.2617A>G (p.Thr873Ala) c.2563A>G (p.Thr855Ala) c.2536A>G (p.Thr846Ala) c.2521A>G (p.Thr841Ala) c.2128A>G (p.Thr710Ala) c.2590A>G (p.Thr864Ala) c.2527A>G (p.Thr843Ala) c.2524A>G (p.Thr842Ala) c.2482A>G (p.Thr828Ala) c.1555A>G (p.Thr519Ala) | |
20 | g.63406724T>G | CA9958063 | KCNQ2 | c.2593A>C (p.Thr865Pro) c.2539A>C (p.Thr847Pro) c.1936A>C (p.Thr646Pro) c.2446A>C (p.Thr816Pro) c.2107A>C (p.Thr703Pro) c.2455A>C (p.Thr819Pro) c.2241+322A>C (n.2241+322A>C) c.2205+322A>C (n.2205+322A>C) c.2485A>C (p.Thr829Pro) c.2133+322A>C (n.2133+322A>C) c.1680-5881A>C (n.1680-5881A>C) c.2581A>C (p.Thr861Pro) c.2647A>C (p.Thr883Pro) c.2644A>C (p.Thr882Pro) c.2617A>C (p.Thr873Pro) c.2563A>C (p.Thr855Pro) c.2536A>C (p.Thr846Pro) c.2521A>C (p.Thr841Pro) c.2128A>C (p.Thr710Pro) c.2590A>C (p.Thr864Pro) c.2527A>C (p.Thr843Pro) c.2524A>C (p.Thr842Pro) c.2482A>C (p.Thr828Pro) c.1555A>C (p.Thr519Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406724T= | CA2374774220 | KCNQ2 | c.2593A= (p.Thr865=) c.2539A= (p.Thr847=) c.1936A= (p.Thr646=) c.2446A= (p.Thr816=) c.2107A= (p.Thr703=) c.2455A= (p.Thr819=) c.2241+322A= (n.2241+322A=) c.2205+322A= (n.2205+322A=) c.2485A= (p.Thr829=) c.2133+322A= (n.2133+322A=) c.1680-5881A= (n.1680-5881A=) c.2581A= (p.Thr861=) c.2647A= (p.Thr883=) c.2644A= (p.Thr882=) c.2617A= (p.Thr873=) c.2563A= (p.Thr855=) c.2536A= (p.Thr846=) c.2521A= (p.Thr841=) c.2128A= (p.Thr710=) c.2590A= (p.Thr864=) c.2527A= (p.Thr843=) c.2524A= (p.Thr842=) c.2482A= (p.Thr828=) c.1555A= (p.Thr519=) | |
20 | g.63406725A>C | CA409636634 | KCNQ2 | c.2592T>G (p.Cys864Trp) c.2538T>G (p.Cys846Trp) c.1935T>G (p.Cys645Trp) c.2445T>G (p.Cys815Trp) c.2106T>G (p.Cys702Trp) c.2454T>G (p.Cys818Trp) c.2241+321T>G (n.2241+321T>G) c.2205+321T>G (n.2205+321T>G) c.2484T>G (p.Cys828Trp) c.2133+321T>G (n.2133+321T>G) c.1680-5882T>G (n.1680-5882T>G) c.2580T>G (p.Cys860Trp) c.2646T>G (p.Cys882Trp) c.2643T>G (p.Cys881Trp) c.2616T>G (p.Cys872Trp) c.2562T>G (p.Cys854Trp) c.2535T>G (p.Cys845Trp) c.2520T>G (p.Cys840Trp) c.2127T>G (p.Cys709Trp) c.2589T>G (p.Cys863Trp) c.2526T>G (p.Cys842Trp) c.2523T>G (p.Cys841Trp) c.2481T>G (p.Cys827Trp) c.1554T>G (p.Cys518Trp) | COSMIC COSMIC COSMIC |
20 | g.63406725A>G | CA511339219 | KCNQ2 | c.2592T>C (p.Cys864=) c.2538T>C (p.Cys846=) c.1935T>C (p.Cys645=) c.2445T>C (p.Cys815=) c.2106T>C (p.Cys702=) c.2454T>C (p.Cys818=) c.2241+321T>C (n.2241+321T>C) c.2205+321T>C (n.2205+321T>C) c.2484T>C (p.Cys828=) c.2133+321T>C (n.2133+321T>C) c.1680-5882T>C (n.1680-5882T>C) c.2580T>C (p.Cys860=) c.2646T>C (p.Cys882=) c.2643T>C (p.Cys881=) c.2616T>C (p.Cys872=) c.2562T>C (p.Cys854=) c.2535T>C (p.Cys845=) c.2520T>C (p.Cys840=) c.2127T>C (p.Cys709=) c.2589T>C (p.Cys863=) c.2526T>C (p.Cys842=) c.2523T>C (p.Cys841=) c.2481T>C (p.Cys827=) c.1554T>C (p.Cys518=) | |
20 | g.63406725A>T | CA409636636 | KCNQ2 | c.2592T>A (p.Cys864Ter) c.2538T>A (p.Cys846Ter) c.1935T>A (p.Cys645Ter) c.2445T>A (p.Cys815Ter) c.2106T>A (p.Cys702Ter) c.2454T>A (p.Cys818Ter) c.2241+321T>A (n.2241+321T>A) c.2205+321T>A (n.2205+321T>A) c.2484T>A (p.Cys828Ter) c.2133+321T>A (n.2133+321T>A) c.1680-5882T>A (n.1680-5882T>A) c.2580T>A (p.Cys860Ter) c.2646T>A (p.Cys882Ter) c.2643T>A (p.Cys881Ter) c.2616T>A (p.Cys872Ter) c.2562T>A (p.Cys854Ter) c.2535T>A (p.Cys845Ter) c.2520T>A (p.Cys840Ter) c.2127T>A (p.Cys709Ter) c.2589T>A (p.Cys863Ter) c.2526T>A (p.Cys842Ter) c.2523T>A (p.Cys841Ter) c.2481T>A (p.Cys827Ter) c.1554T>A (p.Cys518Ter) | |
20 | g.63406726C>A | CA409636640 | KCNQ2 | c.2591G>T (p.Cys864Phe) c.2537G>T (p.Cys846Phe) c.1934G>T (p.Cys645Phe) c.2444G>T (p.Cys815Phe) c.2105G>T (p.Cys702Phe) c.2453G>T (p.Cys818Phe) c.2241+320G>T (n.2241+320G>T) c.2205+320G>T (n.2205+320G>T) c.2483G>T (p.Cys828Phe) c.2133+320G>T (n.2133+320G>T) c.1680-5883G>T (n.1680-5883G>T) c.2579G>T (p.Cys860Phe) c.2645G>T (p.Cys882Phe) c.2642G>T (p.Cys881Phe) c.2615G>T (p.Cys872Phe) c.2561G>T (p.Cys854Phe) c.2534G>T (p.Cys845Phe) c.2519G>T (p.Cys840Phe) c.2126G>T (p.Cys709Phe) c.2588G>T (p.Cys863Phe) c.2525G>T (p.Cys842Phe) c.2522G>T (p.Cys841Phe) c.2480G>T (p.Cys827Phe) c.1553G>T (p.Cys518Phe) | |
20 | g.63406726C>G | CA409636642 | KCNQ2 | c.2591G>C (p.Cys864Ser) c.2537G>C (p.Cys846Ser) c.1934G>C (p.Cys645Ser) c.2444G>C (p.Cys815Ser) c.2105G>C (p.Cys702Ser) c.2453G>C (p.Cys818Ser) c.2241+320G>C (n.2241+320G>C) c.2205+320G>C (n.2205+320G>C) c.2483G>C (p.Cys828Ser) c.2133+320G>C (n.2133+320G>C) c.1680-5883G>C (n.1680-5883G>C) c.2579G>C (p.Cys860Ser) c.2645G>C (p.Cys882Ser) c.2642G>C (p.Cys881Ser) c.2615G>C (p.Cys872Ser) c.2561G>C (p.Cys854Ser) c.2534G>C (p.Cys845Ser) c.2519G>C (p.Cys840Ser) c.2126G>C (p.Cys709Ser) c.2588G>C (p.Cys863Ser) c.2525G>C (p.Cys842Ser) c.2522G>C (p.Cys841Ser) c.2480G>C (p.Cys827Ser) c.1553G>C (p.Cys518Ser) | |
20 | g.63406726C>T | CA409636638 | KCNQ2 | c.2591G>A (p.Cys864Tyr) c.2537G>A (p.Cys846Tyr) c.1934G>A (p.Cys645Tyr) c.2444G>A (p.Cys815Tyr) c.2105G>A (p.Cys702Tyr) c.2453G>A (p.Cys818Tyr) c.2241+320G>A (n.2241+320G>A) c.2205+320G>A (n.2205+320G>A) c.2483G>A (p.Cys828Tyr) c.2133+320G>A (n.2133+320G>A) c.1680-5883G>A (n.1680-5883G>A) c.2579G>A (p.Cys860Tyr) c.2645G>A (p.Cys882Tyr) c.2642G>A (p.Cys881Tyr) c.2615G>A (p.Cys872Tyr) c.2561G>A (p.Cys854Tyr) c.2534G>A (p.Cys845Tyr) c.2519G>A (p.Cys840Tyr) c.2126G>A (p.Cys709Tyr) c.2588G>A (p.Cys863Tyr) c.2525G>A (p.Cys842Tyr) c.2522G>A (p.Cys841Tyr) c.2480G>A (p.Cys827Tyr) c.1553G>A (p.Cys518Tyr) | gnomAD v4 |
20 | g.63406727A= | CA2374774221 | KCNQ2 | c.2590T= (p.Cys864=) c.2536T= (p.Cys846=) c.1933T= (p.Cys645=) c.2443T= (p.Cys815=) c.2104T= (p.Cys702=) c.2452T= (p.Cys818=) c.2241+319T= (n.2241+319T=) c.2205+319T= (n.2205+319T=) c.2482T= (p.Cys828=) c.2133+319T= (n.2133+319T=) c.1680-5884T= (n.1680-5884T=) c.2578T= (p.Cys860=) c.2644T= (p.Cys882=) c.2641T= (p.Cys881=) c.2614T= (p.Cys872=) c.2560T= (p.Cys854=) c.2533T= (p.Cys845=) c.2518T= (p.Cys840=) c.2125T= (p.Cys709=) c.2587T= (p.Cys863=) c.2524T= (p.Cys842=) c.2521T= (p.Cys841=) c.2479T= (p.Cys827=) c.1552T= (p.Cys518=) | |
20 | g.63406727A>C | CA409636649 | KCNQ2 | c.2590T>G (p.Cys864Gly) c.2536T>G (p.Cys846Gly) c.1933T>G (p.Cys645Gly) c.2443T>G (p.Cys815Gly) c.2104T>G (p.Cys702Gly) c.2452T>G (p.Cys818Gly) c.2241+319T>G (n.2241+319T>G) c.2205+319T>G (n.2205+319T>G) c.2482T>G (p.Cys828Gly) c.2133+319T>G (n.2133+319T>G) c.1680-5884T>G (n.1680-5884T>G) c.2578T>G (p.Cys860Gly) c.2644T>G (p.Cys882Gly) c.2641T>G (p.Cys881Gly) c.2614T>G (p.Cys872Gly) c.2560T>G (p.Cys854Gly) c.2533T>G (p.Cys845Gly) c.2518T>G (p.Cys840Gly) c.2125T>G (p.Cys709Gly) c.2587T>G (p.Cys863Gly) c.2524T>G (p.Cys842Gly) c.2521T>G (p.Cys841Gly) c.2479T>G (p.Cys827Gly) c.1552T>G (p.Cys518Gly) | ClinVar dbSNP |
20 | g.63406727A>G | CA409636645 | KCNQ2 | c.2590T>C (p.Cys864Arg) c.2536T>C (p.Cys846Arg) c.1933T>C (p.Cys645Arg) c.2443T>C (p.Cys815Arg) c.2104T>C (p.Cys702Arg) c.2452T>C (p.Cys818Arg) c.2241+319T>C (n.2241+319T>C) c.2205+319T>C (n.2205+319T>C) c.2482T>C (p.Cys828Arg) c.2133+319T>C (n.2133+319T>C) c.1680-5884T>C (n.1680-5884T>C) c.2578T>C (p.Cys860Arg) c.2644T>C (p.Cys882Arg) c.2641T>C (p.Cys881Arg) c.2614T>C (p.Cys872Arg) c.2560T>C (p.Cys854Arg) c.2533T>C (p.Cys845Arg) c.2518T>C (p.Cys840Arg) c.2125T>C (p.Cys709Arg) c.2587T>C (p.Cys863Arg) c.2524T>C (p.Cys842Arg) c.2521T>C (p.Cys841Arg) c.2479T>C (p.Cys827Arg) c.1552T>C (p.Cys518Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
20 | g.63406727A>T | CA409636647 | KCNQ2 | c.2590T>A (p.Cys864Ser) c.2536T>A (p.Cys846Ser) c.1933T>A (p.Cys645Ser) c.2443T>A (p.Cys815Ser) c.2104T>A (p.Cys702Ser) c.2452T>A (p.Cys818Ser) c.2241+319T>A (n.2241+319T>A) c.2205+319T>A (n.2205+319T>A) c.2482T>A (p.Cys828Ser) c.2133+319T>A (n.2133+319T>A) c.1680-5884T>A (n.1680-5884T>A) c.2578T>A (p.Cys860Ser) c.2644T>A (p.Cys882Ser) c.2641T>A (p.Cys881Ser) c.2614T>A (p.Cys872Ser) c.2560T>A (p.Cys854Ser) c.2533T>A (p.Cys845Ser) c.2518T>A (p.Cys840Ser) c.2125T>A (p.Cys709Ser) c.2587T>A (p.Cys863Ser) c.2524T>A (p.Cys842Ser) c.2521T>A (p.Cys841Ser) c.2479T>A (p.Cys827Ser) c.1552T>A (p.Cys518Ser) | |
20 | g.63406728G>A | CA511339220 | KCNQ2 | c.2589C>T (p.Leu863=) c.2535C>T (p.Leu845=) c.1932C>T (p.Leu644=) c.2442C>T (p.Leu814=) c.2103C>T (p.Leu701=) c.2451C>T (p.Leu817=) c.2241+318C>T (n.2241+318C>T) c.2205+318C>T (n.2205+318C>T) c.2481C>T (p.Leu827=) c.2133+318C>T (n.2133+318C>T) c.1680-5885C>T (n.1680-5885C>T) c.2577C>T (p.Leu859=) c.2643C>T (p.Leu881=) c.2640C>T (p.Leu880=) c.2613C>T (p.Leu871=) c.2559C>T (p.Leu853=) c.2532C>T (p.Leu844=) c.2517C>T (p.Leu839=) c.2124C>T (p.Leu708=) c.2586C>T (p.Leu862=) c.2523C>T (p.Leu841=) c.2520C>T (p.Leu840=) c.2478C>T (p.Leu826=) c.1551C>T (p.Leu517=) | gnomAD v4 |
20 | g.63406728G>C | CA315324 | KCNQ2 | c.2589C>G (p.Leu863=) c.2535C>G (p.Leu845=) c.1932C>G (p.Leu644=) c.2442C>G (p.Leu814=) c.2103C>G (p.Leu701=) c.2451C>G (p.Leu817=) c.2241+318C>G (n.2241+318C>G) c.2205+318C>G (n.2205+318C>G) c.2481C>G (p.Leu827=) c.2133+318C>G (n.2133+318C>G) c.1680-5885C>G (n.1680-5885C>G) c.2577C>G (p.Leu859=) c.2643C>G (p.Leu881=) c.2640C>G (p.Leu880=) c.2613C>G (p.Leu871=) c.2559C>G (p.Leu853=) c.2532C>G (p.Leu844=) c.2517C>G (p.Leu839=) c.2124C>G (p.Leu708=) c.2586C>G (p.Leu862=) c.2523C>G (p.Leu841=) c.2520C>G (p.Leu840=) c.2478C>G (p.Leu826=) c.1551C>G (p.Leu517=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406728G= | CA2374774222 | KCNQ2 | c.2589C= (p.Leu863=) c.2535C= (p.Leu845=) c.1932C= (p.Leu644=) c.2442C= (p.Leu814=) c.2103C= (p.Leu701=) c.2451C= (p.Leu817=) c.2241+318C= (n.2241+318C=) c.2205+318C= (n.2205+318C=) c.2481C= (p.Leu827=) c.2133+318C= (n.2133+318C=) c.1680-5885C= (n.1680-5885C=) c.2577C= (p.Leu859=) c.2643C= (p.Leu881=) c.2640C= (p.Leu880=) c.2613C= (p.Leu871=) c.2559C= (p.Leu853=) c.2532C= (p.Leu844=) c.2517C= (p.Leu839=) c.2124C= (p.Leu708=) c.2586C= (p.Leu862=) c.2523C= (p.Leu841=) c.2520C= (p.Leu840=) c.2478C= (p.Leu826=) c.1551C= (p.Leu517=) | |
20 | g.63406728G>T | CA511339221 | KCNQ2 | c.2589C>A (p.Leu863=) c.2535C>A (p.Leu845=) c.1932C>A (p.Leu644=) c.2442C>A (p.Leu814=) c.2103C>A (p.Leu701=) c.2451C>A (p.Leu817=) c.2241+318C>A (n.2241+318C>A) c.2205+318C>A (n.2205+318C>A) c.2481C>A (p.Leu827=) c.2133+318C>A (n.2133+318C>A) c.1680-5885C>A (n.1680-5885C>A) c.2577C>A (p.Leu859=) c.2643C>A (p.Leu881=) c.2640C>A (p.Leu880=) c.2613C>A (p.Leu871=) c.2559C>A (p.Leu853=) c.2532C>A (p.Leu844=) c.2517C>A (p.Leu839=) c.2124C>A (p.Leu708=) c.2586C>A (p.Leu862=) c.2523C>A (p.Leu841=) c.2520C>A (p.Leu840=) c.2478C>A (p.Leu826=) c.1551C>A (p.Leu517=) | |
20 | g.63406729A>C | CA409636653 | KCNQ2 | c.2588T>G (p.Leu863Arg) c.2534T>G (p.Leu845Arg) c.1931T>G (p.Leu644Arg) c.2441T>G (p.Leu814Arg) c.2102T>G (p.Leu701Arg) c.2450T>G (p.Leu817Arg) c.2241+317T>G (n.2241+317T>G) c.2205+317T>G (n.2205+317T>G) c.2480T>G (p.Leu827Arg) c.2133+317T>G (n.2133+317T>G) c.1680-5886T>G (n.1680-5886T>G) c.2576T>G (p.Leu859Arg) c.2642T>G (p.Leu881Arg) c.2639T>G (p.Leu880Arg) c.2612T>G (p.Leu871Arg) c.2558T>G (p.Leu853Arg) c.2531T>G (p.Leu844Arg) c.2516T>G (p.Leu839Arg) c.2123T>G (p.Leu708Arg) c.2585T>G (p.Leu862Arg) c.2522T>G (p.Leu841Arg) c.2519T>G (p.Leu840Arg) c.2477T>G (p.Leu826Arg) c.1550T>G (p.Leu517Arg) | |
20 | g.63406729A>G | CA409636654 | KCNQ2 | c.2588T>C (p.Leu863Pro) c.2534T>C (p.Leu845Pro) c.1931T>C (p.Leu644Pro) c.2441T>C (p.Leu814Pro) c.2102T>C (p.Leu701Pro) c.2450T>C (p.Leu817Pro) c.2241+317T>C (n.2241+317T>C) c.2205+317T>C (n.2205+317T>C) c.2480T>C (p.Leu827Pro) c.2133+317T>C (n.2133+317T>C) c.1680-5886T>C (n.1680-5886T>C) c.2576T>C (p.Leu859Pro) c.2642T>C (p.Leu881Pro) c.2639T>C (p.Leu880Pro) c.2612T>C (p.Leu871Pro) c.2558T>C (p.Leu853Pro) c.2531T>C (p.Leu844Pro) c.2516T>C (p.Leu839Pro) c.2123T>C (p.Leu708Pro) c.2585T>C (p.Leu862Pro) c.2522T>C (p.Leu841Pro) c.2519T>C (p.Leu840Pro) c.2477T>C (p.Leu826Pro) c.1550T>C (p.Leu517Pro) | gnomAD v4 |
20 | g.63406729A>T | CA409636656 | KCNQ2 | c.2588T>A (p.Leu863His) c.2534T>A (p.Leu845His) c.1931T>A (p.Leu644His) c.2441T>A (p.Leu814His) c.2102T>A (p.Leu701His) c.2450T>A (p.Leu817His) c.2241+317T>A (n.2241+317T>A) c.2205+317T>A (n.2205+317T>A) c.2480T>A (p.Leu827His) c.2133+317T>A (n.2133+317T>A) c.1680-5886T>A (n.1680-5886T>A) c.2576T>A (p.Leu859His) c.2642T>A (p.Leu881His) c.2639T>A (p.Leu880His) c.2612T>A (p.Leu871His) c.2558T>A (p.Leu853His) c.2531T>A (p.Leu844His) c.2516T>A (p.Leu839His) c.2123T>A (p.Leu708His) c.2585T>A (p.Leu862His) c.2522T>A (p.Leu841His) c.2519T>A (p.Leu840His) c.2477T>A (p.Leu826His) c.1550T>A (p.Leu517His) | |
20 | g.63406730G>A | CA409636660 | KCNQ2 | c.2587C>T (p.Leu863Phe) c.2533C>T (p.Leu845Phe) c.1930C>T (p.Leu644Phe) c.2440C>T (p.Leu814Phe) c.2101C>T (p.Leu701Phe) c.2449C>T (p.Leu817Phe) c.2241+316C>T (n.2241+316C>T) c.2205+316C>T (n.2205+316C>T) c.2479C>T (p.Leu827Phe) c.2133+316C>T (n.2133+316C>T) c.1680-5887C>T (n.1680-5887C>T) c.2575C>T (p.Leu859Phe) c.2641C>T (p.Leu881Phe) c.2638C>T (p.Leu880Phe) c.2611C>T (p.Leu871Phe) c.2557C>T (p.Leu853Phe) c.2530C>T (p.Leu844Phe) c.2515C>T (p.Leu839Phe) c.2122C>T (p.Leu708Phe) c.2584C>T (p.Leu862Phe) c.2521C>T (p.Leu841Phe) c.2518C>T (p.Leu840Phe) c.2476C>T (p.Leu826Phe) c.1549C>T (p.Leu517Phe) | |
20 | g.63406730G>C | CA409636658 | KCNQ2 | c.2587C>G (p.Leu863Val) c.2533C>G (p.Leu845Val) c.1930C>G (p.Leu644Val) c.2440C>G (p.Leu814Val) c.2101C>G (p.Leu701Val) c.2449C>G (p.Leu817Val) c.2241+316C>G (n.2241+316C>G) c.2205+316C>G (n.2205+316C>G) c.2479C>G (p.Leu827Val) c.2133+316C>G (n.2133+316C>G) c.1680-5887C>G (n.1680-5887C>G) c.2575C>G (p.Leu859Val) c.2641C>G (p.Leu881Val) c.2638C>G (p.Leu880Val) c.2611C>G (p.Leu871Val) c.2557C>G (p.Leu853Val) c.2530C>G (p.Leu844Val) c.2515C>G (p.Leu839Val) c.2122C>G (p.Leu708Val) c.2584C>G (p.Leu862Val) c.2521C>G (p.Leu841Val) c.2518C>G (p.Leu840Val) c.2476C>G (p.Leu826Val) c.1549C>G (p.Leu517Val) | |
20 | g.63406730G>T | CA409636659 | KCNQ2 | c.2587C>A (p.Leu863Ile) c.2533C>A (p.Leu845Ile) c.1930C>A (p.Leu644Ile) c.2440C>A (p.Leu814Ile) c.2101C>A (p.Leu701Ile) c.2449C>A (p.Leu817Ile) c.2241+316C>A (n.2241+316C>A) c.2205+316C>A (n.2205+316C>A) c.2479C>A (p.Leu827Ile) c.2133+316C>A (n.2133+316C>A) c.1680-5887C>A (n.1680-5887C>A) c.2575C>A (p.Leu859Ile) c.2641C>A (p.Leu881Ile) c.2638C>A (p.Leu880Ile) c.2611C>A (p.Leu871Ile) c.2557C>A (p.Leu853Ile) c.2530C>A (p.Leu844Ile) c.2515C>A (p.Leu839Ile) c.2122C>A (p.Leu708Ile) c.2584C>A (p.Leu862Ile) c.2521C>A (p.Leu841Ile) c.2518C>A (p.Leu840Ile) c.2476C>A (p.Leu826Ile) c.1549C>A (p.Leu517Ile) | gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63406731del | CA2573157284 | KCNQ2 | c.2587del (p.Leu863SerfsTer?) c.2533del (p.Leu845SerfsTer?) c.1930del (p.Leu644SerfsTer?) c.2440del (p.Leu814SerfsTer?) c.2101del (p.Leu701SerfsTer?) c.2449del (p.Leu817SerfsTer?) c.2241+316del (n.2241+316del) c.2205+316del (n.2205+316del) c.2479del (p.Leu827SerfsTer?) c.2133+316del (n.2133+316del) c.1680-5887del (n.1680-5887del) c.2575del (p.Leu859SerfsTer?) c.2641del (p.Leu881SerfsTer?) c.2638del (p.Leu880SerfsTer?) c.2611del (p.Leu871SerfsTer?) c.2557del (p.Leu853SerfsTer?) c.2530del (p.Leu844SerfsTer?) c.2515del (p.Leu839SerfsTer?) c.2122del (p.Leu708SerfsTer?) c.2584del (p.Leu862SerfsTer?) c.2521del (p.Leu841SerfsTer?) c.2518del (p.Leu840SerfsTer?) c.2476del (p.Leu826SerfsTer?) c.1549del (p.Leu517SerfsTer?) | ClinVar dbSNP |
20 | g.63406731G>A | CA511339222 | KCNQ2 | c.2586C>T (p.Asp862=) c.2532C>T (p.Asp844=) c.1929C>T (p.Asp643=) c.2439C>T (p.Asp813=) c.2100C>T (p.Asp700=) c.2448C>T (p.Asp816=) c.2241+315C>T (n.2241+315C>T) c.2205+315C>T (n.2205+315C>T) c.2478C>T (p.Asp826=) c.2133+315C>T (n.2133+315C>T) c.1680-5888C>T (n.1680-5888C>T) c.2574C>T (p.Asp858=) c.2640C>T (p.Asp880=) c.2637C>T (p.Asp879=) c.2610C>T (p.Asp870=) c.2556C>T (p.Asp852=) c.2529C>T (p.Asp843=) c.2514C>T (p.Asp838=) c.2121C>T (p.Asp707=) c.2583C>T (p.Asp861=) c.2520C>T (p.Asp840=) c.2517C>T (p.Asp839=) c.2475C>T (p.Asp825=) c.1548C>T (p.Asp516=) | gnomAD v4 |
20 | g.63406731G>C | CA409636661 | KCNQ2 | c.2586C>G (p.Asp862Glu) c.2532C>G (p.Asp844Glu) c.1929C>G (p.Asp643Glu) c.2439C>G (p.Asp813Glu) c.2100C>G (p.Asp700Glu) c.2448C>G (p.Asp816Glu) c.2241+315C>G (n.2241+315C>G) c.2205+315C>G (n.2205+315C>G) c.2478C>G (p.Asp826Glu) c.2133+315C>G (n.2133+315C>G) c.1680-5888C>G (n.1680-5888C>G) c.2574C>G (p.Asp858Glu) c.2640C>G (p.Asp880Glu) c.2637C>G (p.Asp879Glu) c.2610C>G (p.Asp870Glu) c.2556C>G (p.Asp852Glu) c.2529C>G (p.Asp843Glu) c.2514C>G (p.Asp838Glu) c.2121C>G (p.Asp707Glu) c.2583C>G (p.Asp861Glu) c.2520C>G (p.Asp840Glu) c.2517C>G (p.Asp839Glu) c.2475C>G (p.Asp825Glu) c.1548C>G (p.Asp516Glu) | |
20 | g.63406731G>T | CA409636662 | KCNQ2 | c.2586C>A (p.Asp862Glu) c.2532C>A (p.Asp844Glu) c.1929C>A (p.Asp643Glu) c.2439C>A (p.Asp813Glu) c.2100C>A (p.Asp700Glu) c.2448C>A (p.Asp816Glu) c.2241+315C>A (n.2241+315C>A) c.2205+315C>A (n.2205+315C>A) c.2478C>A (p.Asp826Glu) c.2133+315C>A (n.2133+315C>A) c.1680-5888C>A (n.1680-5888C>A) c.2574C>A (p.Asp858Glu) c.2640C>A (p.Asp880Glu) c.2637C>A (p.Asp879Glu) c.2610C>A (p.Asp870Glu) c.2556C>A (p.Asp852Glu) c.2529C>A (p.Asp843Glu) c.2514C>A (p.Asp838Glu) c.2121C>A (p.Asp707Glu) c.2583C>A (p.Asp861Glu) c.2520C>A (p.Asp840Glu) c.2517C>A (p.Asp839Glu) c.2475C>A (p.Asp825Glu) c.1548C>A (p.Asp516Glu) | gnomAD v4 |
20 | g.63406732T>A | CA409636665 | KCNQ2 | c.2585A>T (p.Asp862Val) c.2531A>T (p.Asp844Val) c.1928A>T (p.Asp643Val) c.2438A>T (p.Asp813Val) c.2099A>T (p.Asp700Val) c.2447A>T (p.Asp816Val) c.2241+314A>T (n.2241+314A>T) c.2205+314A>T (n.2205+314A>T) c.2477A>T (p.Asp826Val) c.2133+314A>T (n.2133+314A>T) c.1680-5889A>T (n.1680-5889A>T) c.2573A>T (p.Asp858Val) c.2639A>T (p.Asp880Val) c.2636A>T (p.Asp879Val) c.2609A>T (p.Asp870Val) c.2555A>T (p.Asp852Val) c.2528A>T (p.Asp843Val) c.2513A>T (p.Asp838Val) c.2120A>T (p.Asp707Val) c.2582A>T (p.Asp861Val) c.2519A>T (p.Asp840Val) c.2516A>T (p.Asp839Val) c.2474A>T (p.Asp825Val) c.1547A>T (p.Asp516Val) | |
20 | g.63406732T>C | CA409636667 | KCNQ2 | c.2585A>G (p.Asp862Gly) c.2531A>G (p.Asp844Gly) c.1928A>G (p.Asp643Gly) c.2438A>G (p.Asp813Gly) c.2099A>G (p.Asp700Gly) c.2447A>G (p.Asp816Gly) c.2241+314A>G (n.2241+314A>G) c.2205+314A>G (n.2205+314A>G) c.2477A>G (p.Asp826Gly) c.2133+314A>G (n.2133+314A>G) c.1680-5889A>G (n.1680-5889A>G) c.2573A>G (p.Asp858Gly) c.2639A>G (p.Asp880Gly) c.2636A>G (p.Asp879Gly) c.2609A>G (p.Asp870Gly) c.2555A>G (p.Asp852Gly) c.2528A>G (p.Asp843Gly) c.2513A>G (p.Asp838Gly) c.2120A>G (p.Asp707Gly) c.2582A>G (p.Asp861Gly) c.2519A>G (p.Asp840Gly) c.2516A>G (p.Asp839Gly) c.2474A>G (p.Asp825Gly) c.1547A>G (p.Asp516Gly) | ClinVar |
20 | g.63406732T>G | CA409636669 | KCNQ2 | c.2585A>C (p.Asp862Ala) c.2531A>C (p.Asp844Ala) c.1928A>C (p.Asp643Ala) c.2438A>C (p.Asp813Ala) c.2099A>C (p.Asp700Ala) c.2447A>C (p.Asp816Ala) c.2241+314A>C (n.2241+314A>C) c.2205+314A>C (n.2205+314A>C) c.2477A>C (p.Asp826Ala) c.2133+314A>C (n.2133+314A>C) c.1680-5889A>C (n.1680-5889A>C) c.2573A>C (p.Asp858Ala) c.2639A>C (p.Asp880Ala) c.2636A>C (p.Asp879Ala) c.2609A>C (p.Asp870Ala) c.2555A>C (p.Asp852Ala) c.2528A>C (p.Asp843Ala) c.2513A>C (p.Asp838Ala) c.2120A>C (p.Asp707Ala) c.2582A>C (p.Asp861Ala) c.2519A>C (p.Asp840Ala) c.2516A>C (p.Asp839Ala) c.2474A>C (p.Asp825Ala) c.1547A>C (p.Asp516Ala) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406732T= | CA2374774223 | KCNQ2 | c.2585A= (p.Asp862=) c.2531A= (p.Asp844=) c.1928A= (p.Asp643=) c.2438A= (p.Asp813=) c.2099A= (p.Asp700=) c.2447A= (p.Asp816=) c.2241+314A= (n.2241+314A=) c.2205+314A= (n.2205+314A=) c.2477A= (p.Asp826=) c.2133+314A= (n.2133+314A=) c.1680-5889A= (n.1680-5889A=) c.2573A= (p.Asp858=) c.2639A= (p.Asp880=) c.2636A= (p.Asp879=) c.2609A= (p.Asp870=) c.2555A= (p.Asp852=) c.2528A= (p.Asp843=) c.2513A= (p.Asp838=) c.2120A= (p.Asp707=) c.2582A= (p.Asp861=) c.2519A= (p.Asp840=) c.2516A= (p.Asp839=) c.2474A= (p.Asp825=) c.1547A= (p.Asp516=) | |
20 | g.63406733C>A | CA409636671 | KCNQ2 | c.2584G>T (p.Asp862Tyr) c.2530G>T (p.Asp844Tyr) c.1927G>T (p.Asp643Tyr) c.2437G>T (p.Asp813Tyr) c.2098G>T (p.Asp700Tyr) c.2446G>T (p.Asp816Tyr) c.2241+313G>T (n.2241+313G>T) c.2205+313G>T (n.2205+313G>T) c.2476G>T (p.Asp826Tyr) c.2133+313G>T (n.2133+313G>T) c.1680-5890G>T (n.1680-5890G>T) c.2572G>T (p.Asp858Tyr) c.2638G>T (p.Asp880Tyr) c.2635G>T (p.Asp879Tyr) c.2608G>T (p.Asp870Tyr) c.2554G>T (p.Asp852Tyr) c.2527G>T (p.Asp843Tyr) c.2512G>T (p.Asp838Tyr) c.2119G>T (p.Asp707Tyr) c.2581G>T (p.Asp861Tyr) c.2518G>T (p.Asp840Tyr) c.2515G>T (p.Asp839Tyr) c.2473G>T (p.Asp825Tyr) c.1546G>T (p.Asp516Tyr) | gnomAD v4 |
20 | g.63406733C>G | CA409636675 | KCNQ2 | c.2584G>C (p.Asp862His) c.2530G>C (p.Asp844His) c.1927G>C (p.Asp643His) c.2437G>C (p.Asp813His) c.2098G>C (p.Asp700His) c.2446G>C (p.Asp816His) c.2241+313G>C (n.2241+313G>C) c.2205+313G>C (n.2205+313G>C) c.2476G>C (p.Asp826His) c.2133+313G>C (n.2133+313G>C) c.1680-5890G>C (n.1680-5890G>C) c.2572G>C (p.Asp858His) c.2638G>C (p.Asp880His) c.2635G>C (p.Asp879His) c.2608G>C (p.Asp870His) c.2554G>C (p.Asp852His) c.2527G>C (p.Asp843His) c.2512G>C (p.Asp838His) c.2119G>C (p.Asp707His) c.2581G>C (p.Asp861His) c.2518G>C (p.Asp840His) c.2515G>C (p.Asp839His) c.2473G>C (p.Asp825His) c.1546G>C (p.Asp516His) | |
20 | g.63406733C>T | CA409636673 | KCNQ2 | c.2584G>A (p.Asp862Asn) c.2530G>A (p.Asp844Asn) c.1927G>A (p.Asp643Asn) c.2437G>A (p.Asp813Asn) c.2098G>A (p.Asp700Asn) c.2446G>A (p.Asp816Asn) c.2241+313G>A (n.2241+313G>A) c.2205+313G>A (n.2205+313G>A) c.2476G>A (p.Asp826Asn) c.2133+313G>A (n.2133+313G>A) c.1680-5890G>A (n.1680-5890G>A) c.2572G>A (p.Asp858Asn) c.2638G>A (p.Asp880Asn) c.2635G>A (p.Asp879Asn) c.2608G>A (p.Asp870Asn) c.2554G>A (p.Asp852Asn) c.2527G>A (p.Asp843Asn) c.2512G>A (p.Asp838Asn) c.2119G>A (p.Asp707Asn) c.2581G>A (p.Asp861Asn) c.2518G>A (p.Asp840Asn) c.2515G>A (p.Asp839Asn) c.2473G>A (p.Asp825Asn) c.1546G>A (p.Asp516Asn) | gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63406734G>A | CA291815 | KCNQ2 | c.2583C>T (p.Ser861=) c.2529C>T (p.Ser843=) c.1926C>T (p.Ser642=) c.2436C>T (p.Ser812=) c.2097C>T (p.Ser699=) c.2445C>T (p.Ser815=) c.2241+312C>T (n.2241+312C>T) c.2205+312C>T (n.2205+312C>T) c.2475C>T (p.Ser825=) c.2133+312C>T (n.2133+312C>T) c.1680-5891C>T (n.1680-5891C>T) c.2571C>T (p.Ser857=) c.2637C>T (p.Ser879=) c.2634C>T (p.Ser878=) c.2607C>T (p.Ser869=) c.2553C>T (p.Ser851=) c.2526C>T (p.Ser842=) c.2511C>T (p.Ser837=) c.2118C>T (p.Ser706=) c.2580C>T (p.Ser860=) c.2517C>T (p.Ser839=) c.2514C>T (p.Ser838=) c.2472C>T (p.Ser824=) c.1545C>T (p.Ser515=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406734G>C | CA511339223 | KCNQ2 | c.2583C>G (p.Ser861=) c.2529C>G (p.Ser843=) c.1926C>G (p.Ser642=) c.2436C>G (p.Ser812=) c.2097C>G (p.Ser699=) c.2445C>G (p.Ser815=) c.2241+312C>G (n.2241+312C>G) c.2205+312C>G (n.2205+312C>G) c.2475C>G (p.Ser825=) c.2133+312C>G (n.2133+312C>G) c.1680-5891C>G (n.1680-5891C>G) c.2571C>G (p.Ser857=) c.2637C>G (p.Ser879=) c.2634C>G (p.Ser878=) c.2607C>G (p.Ser869=) c.2553C>G (p.Ser851=) c.2526C>G (p.Ser842=) c.2511C>G (p.Ser837=) c.2118C>G (p.Ser706=) c.2580C>G (p.Ser860=) c.2517C>G (p.Ser839=) c.2514C>G (p.Ser838=) c.2472C>G (p.Ser824=) c.1545C>G (p.Ser515=) | |
20 | g.63406734G= | CA2374774224 | KCNQ2 | c.2583C= (p.Ser861=) c.2529C= (p.Ser843=) c.1926C= (p.Ser642=) c.2436C= (p.Ser812=) c.2097C= (p.Ser699=) c.2445C= (p.Ser815=) c.2241+312C= (n.2241+312C=) c.2205+312C= (n.2205+312C=) c.2475C= (p.Ser825=) c.2133+312C= (n.2133+312C=) c.1680-5891C= (n.1680-5891C=) c.2571C= (p.Ser857=) c.2637C= (p.Ser879=) c.2634C= (p.Ser878=) c.2607C= (p.Ser869=) c.2553C= (p.Ser851=) c.2526C= (p.Ser842=) c.2511C= (p.Ser837=) c.2118C= (p.Ser706=) c.2580C= (p.Ser860=) c.2517C= (p.Ser839=) c.2514C= (p.Ser838=) c.2472C= (p.Ser824=) c.1545C= (p.Ser515=) | |
20 | g.63406734G>T | CA9958064 | KCNQ2 | c.2583C>A (p.Ser861=) c.2529C>A (p.Ser843=) c.1926C>A (p.Ser642=) c.2436C>A (p.Ser812=) c.2097C>A (p.Ser699=) c.2445C>A (p.Ser815=) c.2241+312C>A (n.2241+312C>A) c.2205+312C>A (n.2205+312C>A) c.2475C>A (p.Ser825=) c.2133+312C>A (n.2133+312C>A) c.1680-5891C>A (n.1680-5891C>A) c.2571C>A (p.Ser857=) c.2637C>A (p.Ser879=) c.2634C>A (p.Ser878=) c.2607C>A (p.Ser869=) c.2553C>A (p.Ser851=) c.2526C>A (p.Ser842=) c.2511C>A (p.Ser837=) c.2118C>A (p.Ser706=) c.2580C>A (p.Ser860=) c.2517C>A (p.Ser839=) c.2514C>A (p.Ser838=) c.2472C>A (p.Ser824=) c.1545C>A (p.Ser515=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406735G>A | CA409636680 | KCNQ2 | c.2582C>T (p.Ser861Phe) c.2528C>T (p.Ser843Phe) c.1925C>T (p.Ser642Phe) c.2435C>T (p.Ser812Phe) c.2096C>T (p.Ser699Phe) c.2444C>T (p.Ser815Phe) c.2241+311C>T (n.2241+311C>T) c.2205+311C>T (n.2205+311C>T) c.2474C>T (p.Ser825Phe) c.2133+311C>T (n.2133+311C>T) c.1680-5892C>T (n.1680-5892C>T) c.2570C>T (p.Ser857Phe) c.2636C>T (p.Ser879Phe) c.2633C>T (p.Ser878Phe) c.2606C>T (p.Ser869Phe) c.2552C>T (p.Ser851Phe) c.2525C>T (p.Ser842Phe) c.2510C>T (p.Ser837Phe) c.2117C>T (p.Ser706Phe) c.2579C>T (p.Ser860Phe) c.2516C>T (p.Ser839Phe) c.2513C>T (p.Ser838Phe) c.2471C>T (p.Ser824Phe) c.1544C>T (p.Ser515Phe) | |
20 | g.63406735G>C | CA409636681 | KCNQ2 | c.2582C>G (p.Ser861Cys) c.2528C>G (p.Ser843Cys) c.1925C>G (p.Ser642Cys) c.2435C>G (p.Ser812Cys) c.2096C>G (p.Ser699Cys) c.2444C>G (p.Ser815Cys) c.2241+311C>G (n.2241+311C>G) c.2205+311C>G (n.2205+311C>G) c.2474C>G (p.Ser825Cys) c.2133+311C>G (n.2133+311C>G) c.1680-5892C>G (n.1680-5892C>G) c.2570C>G (p.Ser857Cys) c.2636C>G (p.Ser879Cys) c.2633C>G (p.Ser878Cys) c.2606C>G (p.Ser869Cys) c.2552C>G (p.Ser851Cys) c.2525C>G (p.Ser842Cys) c.2510C>G (p.Ser837Cys) c.2117C>G (p.Ser706Cys) c.2579C>G (p.Ser860Cys) c.2516C>G (p.Ser839Cys) c.2513C>G (p.Ser838Cys) c.2471C>G (p.Ser824Cys) c.1544C>G (p.Ser515Cys) | |
20 | g.63406735G>T | CA409636682 | KCNQ2 | c.2582C>A (p.Ser861Tyr) c.2528C>A (p.Ser843Tyr) c.1925C>A (p.Ser642Tyr) c.2435C>A (p.Ser812Tyr) c.2096C>A (p.Ser699Tyr) c.2444C>A (p.Ser815Tyr) c.2241+311C>A (n.2241+311C>A) c.2205+311C>A (n.2205+311C>A) c.2474C>A (p.Ser825Tyr) c.2133+311C>A (n.2133+311C>A) c.1680-5892C>A (n.1680-5892C>A) c.2570C>A (p.Ser857Tyr) c.2636C>A (p.Ser879Tyr) c.2633C>A (p.Ser878Tyr) c.2606C>A (p.Ser869Tyr) c.2552C>A (p.Ser851Tyr) c.2525C>A (p.Ser842Tyr) c.2510C>A (p.Ser837Tyr) c.2117C>A (p.Ser706Tyr) c.2579C>A (p.Ser860Tyr) c.2516C>A (p.Ser839Tyr) c.2513C>A (p.Ser838Tyr) c.2471C>A (p.Ser824Tyr) c.1544C>A (p.Ser515Tyr) | |
20 | g.63406736A= | CA2374774225 | KCNQ2 | c.2581T= (p.Ser861=) c.2527T= (p.Ser843=) c.1924T= (p.Ser642=) c.2434T= (p.Ser812=) c.2095T= (p.Ser699=) c.2443T= (p.Ser815=) c.2241+310T= (n.2241+310T=) c.2205+310T= (n.2205+310T=) c.2473T= (p.Ser825=) c.2133+310T= (n.2133+310T=) c.1680-5893T= (n.1680-5893T=) c.2569T= (p.Ser857=) c.2635T= (p.Ser879=) c.2632T= (p.Ser878=) c.2605T= (p.Ser869=) c.2551T= (p.Ser851=) c.2524T= (p.Ser842=) c.2509T= (p.Ser837=) c.2116T= (p.Ser706=) c.2578T= (p.Ser860=) c.2515T= (p.Ser839=) c.2512T= (p.Ser838=) c.2470T= (p.Ser824=) c.1543T= (p.Ser515=) | |
20 | g.63406736A>C | CA409636685 | KCNQ2 | c.2581T>G (p.Ser861Ala) c.2527T>G (p.Ser843Ala) c.1924T>G (p.Ser642Ala) c.2434T>G (p.Ser812Ala) c.2095T>G (p.Ser699Ala) c.2443T>G (p.Ser815Ala) c.2241+310T>G (n.2241+310T>G) c.2205+310T>G (n.2205+310T>G) c.2473T>G (p.Ser825Ala) c.2133+310T>G (n.2133+310T>G) c.1680-5893T>G (n.1680-5893T>G) c.2569T>G (p.Ser857Ala) c.2635T>G (p.Ser879Ala) c.2632T>G (p.Ser878Ala) c.2605T>G (p.Ser869Ala) c.2551T>G (p.Ser851Ala) c.2524T>G (p.Ser842Ala) c.2509T>G (p.Ser837Ala) c.2116T>G (p.Ser706Ala) c.2578T>G (p.Ser860Ala) c.2515T>G (p.Ser839Ala) c.2512T>G (p.Ser838Ala) c.2470T>G (p.Ser824Ala) c.1543T>G (p.Ser515Ala) | |
20 | g.63406736A>G | CA409636687 | KCNQ2 | c.2581T>C (p.Ser861Pro) c.2527T>C (p.Ser843Pro) c.1924T>C (p.Ser642Pro) c.2434T>C (p.Ser812Pro) c.2095T>C (p.Ser699Pro) c.2443T>C (p.Ser815Pro) c.2241+310T>C (n.2241+310T>C) c.2205+310T>C (n.2205+310T>C) c.2473T>C (p.Ser825Pro) c.2133+310T>C (n.2133+310T>C) c.1680-5893T>C (n.1680-5893T>C) c.2569T>C (p.Ser857Pro) c.2635T>C (p.Ser879Pro) c.2632T>C (p.Ser878Pro) c.2605T>C (p.Ser869Pro) c.2551T>C (p.Ser851Pro) c.2524T>C (p.Ser842Pro) c.2509T>C (p.Ser837Pro) c.2116T>C (p.Ser706Pro) c.2578T>C (p.Ser860Pro) c.2515T>C (p.Ser839Pro) c.2512T>C (p.Ser838Pro) c.2470T>C (p.Ser824Pro) c.1543T>C (p.Ser515Pro) | dbSNP gnomAD v2 |
20 | g.63406736A>T | CA409636688 | KCNQ2 | c.2581T>A (p.Ser861Thr) c.2527T>A (p.Ser843Thr) c.1924T>A (p.Ser642Thr) c.2434T>A (p.Ser812Thr) c.2095T>A (p.Ser699Thr) c.2443T>A (p.Ser815Thr) c.2241+310T>A (n.2241+310T>A) c.2205+310T>A (n.2205+310T>A) c.2473T>A (p.Ser825Thr) c.2133+310T>A (n.2133+310T>A) c.1680-5893T>A (n.1680-5893T>A) c.2569T>A (p.Ser857Thr) c.2635T>A (p.Ser879Thr) c.2632T>A (p.Ser878Thr) c.2605T>A (p.Ser869Thr) c.2551T>A (p.Ser851Thr) c.2524T>A (p.Ser842Thr) c.2509T>A (p.Ser837Thr) c.2116T>A (p.Ser706Thr) c.2578T>A (p.Ser860Thr) c.2515T>A (p.Ser839Thr) c.2512T>A (p.Ser838Thr) c.2470T>A (p.Ser824Thr) c.1543T>A (p.Ser515Thr) | |
20 | g.63406737G>A | CA511339224 | KCNQ2 | c.2580C>T (p.Asp860=) c.2526C>T (p.Asp842=) c.1923C>T (p.Asp641=) c.2433C>T (p.Asp811=) c.2094C>T (p.Asp698=) c.2442C>T (p.Asp814=) c.2241+309C>T (n.2241+309C>T) c.2205+309C>T (n.2205+309C>T) c.2472C>T (p.Asp824=) c.2133+309C>T (n.2133+309C>T) c.1680-5894C>T (n.1680-5894C>T) c.2568C>T (p.Asp856=) c.2634C>T (p.Asp878=) c.2631C>T (p.Asp877=) c.2604C>T (p.Asp868=) c.2550C>T (p.Asp850=) c.2523C>T (p.Asp841=) c.2508C>T (p.Asp836=) c.2115C>T (p.Asp705=) c.2577C>T (p.Asp859=) c.2514C>T (p.Asp838=) c.2511C>T (p.Asp837=) c.2469C>T (p.Asp823=) c.1542C>T (p.Asp514=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63406737G>C | CA409636690 | KCNQ2 | c.2580C>G (p.Asp860Glu) c.2526C>G (p.Asp842Glu) c.1923C>G (p.Asp641Glu) c.2433C>G (p.Asp811Glu) c.2094C>G (p.Asp698Glu) c.2442C>G (p.Asp814Glu) c.2241+309C>G (n.2241+309C>G) c.2205+309C>G (n.2205+309C>G) c.2472C>G (p.Asp824Glu) c.2133+309C>G (n.2133+309C>G) c.1680-5894C>G (n.1680-5894C>G) c.2568C>G (p.Asp856Glu) c.2634C>G (p.Asp878Glu) c.2631C>G (p.Asp877Glu) c.2604C>G (p.Asp868Glu) c.2550C>G (p.Asp850Glu) c.2523C>G (p.Asp841Glu) c.2508C>G (p.Asp836Glu) c.2115C>G (p.Asp705Glu) c.2577C>G (p.Asp859Glu) c.2514C>G (p.Asp838Glu) c.2511C>G (p.Asp837Glu) c.2469C>G (p.Asp823Glu) c.1542C>G (p.Asp514Glu) | |
20 | g.63406737G= | CA2374774226 | KCNQ2 | c.2580C= (p.Asp860=) c.2526C= (p.Asp842=) c.1923C= (p.Asp641=) c.2433C= (p.Asp811=) c.2094C= (p.Asp698=) c.2442C= (p.Asp814=) c.2241+309C= (n.2241+309C=) c.2205+309C= (n.2205+309C=) c.2472C= (p.Asp824=) c.2133+309C= (n.2133+309C=) c.1680-5894C= (n.1680-5894C=) c.2568C= (p.Asp856=) c.2634C= (p.Asp878=) c.2631C= (p.Asp877=) c.2604C= (p.Asp868=) c.2550C= (p.Asp850=) c.2523C= (p.Asp841=) c.2508C= (p.Asp836=) c.2115C= (p.Asp705=) c.2577C= (p.Asp859=) c.2514C= (p.Asp838=) c.2511C= (p.Asp837=) c.2469C= (p.Asp823=) c.1542C= (p.Asp514=) | |
20 | g.63406737G>T | CA409636692 | KCNQ2 | c.2580C>A (p.Asp860Glu) c.2526C>A (p.Asp842Glu) c.1923C>A (p.Asp641Glu) c.2433C>A (p.Asp811Glu) c.2094C>A (p.Asp698Glu) c.2442C>A (p.Asp814Glu) c.2241+309C>A (n.2241+309C>A) c.2205+309C>A (n.2205+309C>A) c.2472C>A (p.Asp824Glu) c.2133+309C>A (n.2133+309C>A) c.1680-5894C>A (n.1680-5894C>A) c.2568C>A (p.Asp856Glu) c.2634C>A (p.Asp878Glu) c.2631C>A (p.Asp877Glu) c.2604C>A (p.Asp868Glu) c.2550C>A (p.Asp850Glu) c.2523C>A (p.Asp841Glu) c.2508C>A (p.Asp836Glu) c.2115C>A (p.Asp705Glu) c.2577C>A (p.Asp859Glu) c.2514C>A (p.Asp838Glu) c.2511C>A (p.Asp837Glu) c.2469C>A (p.Asp823Glu) c.1542C>A (p.Asp514Glu) | |
20 | g.63406738T>A | CA409636698 | KCNQ2 | c.2579A>T (p.Asp860Val) c.2525A>T (p.Asp842Val) c.1922A>T (p.Asp641Val) c.2432A>T (p.Asp811Val) c.2093A>T (p.Asp698Val) c.2441A>T (p.Asp814Val) c.2241+308A>T (n.2241+308A>T) c.2205+308A>T (n.2205+308A>T) c.2471A>T (p.Asp824Val) c.2133+308A>T (n.2133+308A>T) c.1680-5895A>T (n.1680-5895A>T) c.2567A>T (p.Asp856Val) c.2633A>T (p.Asp878Val) c.2630A>T (p.Asp877Val) c.2603A>T (p.Asp868Val) c.2549A>T (p.Asp850Val) c.2522A>T (p.Asp841Val) c.2507A>T (p.Asp836Val) c.2114A>T (p.Asp705Val) c.2576A>T (p.Asp859Val) c.2513A>T (p.Asp838Val) c.2510A>T (p.Asp837Val) c.2468A>T (p.Asp823Val) c.1541A>T (p.Asp514Val) | |
20 | g.63406738T>C | CA409636696 | KCNQ2 | c.2579A>G (p.Asp860Gly) c.2525A>G (p.Asp842Gly) c.1922A>G (p.Asp641Gly) c.2432A>G (p.Asp811Gly) c.2093A>G (p.Asp698Gly) c.2441A>G (p.Asp814Gly) c.2241+308A>G (n.2241+308A>G) c.2205+308A>G (n.2205+308A>G) c.2471A>G (p.Asp824Gly) c.2133+308A>G (n.2133+308A>G) c.1680-5895A>G (n.1680-5895A>G) c.2567A>G (p.Asp856Gly) c.2633A>G (p.Asp878Gly) c.2630A>G (p.Asp877Gly) c.2603A>G (p.Asp868Gly) c.2549A>G (p.Asp850Gly) c.2522A>G (p.Asp841Gly) c.2507A>G (p.Asp836Gly) c.2114A>G (p.Asp705Gly) c.2576A>G (p.Asp859Gly) c.2513A>G (p.Asp838Gly) c.2510A>G (p.Asp837Gly) c.2468A>G (p.Asp823Gly) c.1541A>G (p.Asp514Gly) | |
20 | g.63406738T>G | CA409636695 | KCNQ2 | c.2579A>C (p.Asp860Ala) c.2525A>C (p.Asp842Ala) c.1922A>C (p.Asp641Ala) c.2432A>C (p.Asp811Ala) c.2093A>C (p.Asp698Ala) c.2441A>C (p.Asp814Ala) c.2241+308A>C (n.2241+308A>C) c.2205+308A>C (n.2205+308A>C) c.2471A>C (p.Asp824Ala) c.2133+308A>C (n.2133+308A>C) c.1680-5895A>C (n.1680-5895A>C) c.2567A>C (p.Asp856Ala) c.2633A>C (p.Asp878Ala) c.2630A>C (p.Asp877Ala) c.2603A>C (p.Asp868Ala) c.2549A>C (p.Asp850Ala) c.2522A>C (p.Asp841Ala) c.2507A>C (p.Asp836Ala) c.2114A>C (p.Asp705Ala) c.2576A>C (p.Asp859Ala) c.2513A>C (p.Asp838Ala) c.2510A>C (p.Asp837Ala) c.2468A>C (p.Asp823Ala) c.1541A>C (p.Asp514Ala) | |
20 | g.63406739C>A | CA409636701 | KCNQ2 | c.2578G>T (p.Asp860Tyr) c.2524G>T (p.Asp842Tyr) c.1921G>T (p.Asp641Tyr) c.2431G>T (p.Asp811Tyr) c.2092G>T (p.Asp698Tyr) c.2440G>T (p.Asp814Tyr) c.2241+307G>T (n.2241+307G>T) c.2205+307G>T (n.2205+307G>T) c.2470G>T (p.Asp824Tyr) c.2133+307G>T (n.2133+307G>T) c.1680-5896G>T (n.1680-5896G>T) c.2566G>T (p.Asp856Tyr) c.2632G>T (p.Asp878Tyr) c.2629G>T (p.Asp877Tyr) c.2602G>T (p.Asp868Tyr) c.2548G>T (p.Asp850Tyr) c.2521G>T (p.Asp841Tyr) c.2506G>T (p.Asp836Tyr) c.2113G>T (p.Asp705Tyr) c.2575G>T (p.Asp859Tyr) c.2512G>T (p.Asp838Tyr) c.2509G>T (p.Asp837Tyr) c.2467G>T (p.Asp823Tyr) c.1540G>T (p.Asp514Tyr) | |
20 | g.63406739C>G | CA409636702 | KCNQ2 | c.2578G>C (p.Asp860His) c.2524G>C (p.Asp842His) c.1921G>C (p.Asp641His) c.2431G>C (p.Asp811His) c.2092G>C (p.Asp698His) c.2440G>C (p.Asp814His) c.2241+307G>C (n.2241+307G>C) c.2205+307G>C (n.2205+307G>C) c.2470G>C (p.Asp824His) c.2133+307G>C (n.2133+307G>C) c.1680-5896G>C (n.1680-5896G>C) c.2566G>C (p.Asp856His) c.2632G>C (p.Asp878His) c.2629G>C (p.Asp877His) c.2602G>C (p.Asp868His) c.2548G>C (p.Asp850His) c.2521G>C (p.Asp841His) c.2506G>C (p.Asp836His) c.2113G>C (p.Asp705His) c.2575G>C (p.Asp859His) c.2512G>C (p.Asp838His) c.2509G>C (p.Asp837His) c.2467G>C (p.Asp823His) c.1540G>C (p.Asp514His) | ClinVar |
20 | g.63406739C>T | CA409636705 | KCNQ2 | c.2578G>A (p.Asp860Asn) c.2524G>A (p.Asp842Asn) c.1921G>A (p.Asp641Asn) c.2431G>A (p.Asp811Asn) c.2092G>A (p.Asp698Asn) c.2440G>A (p.Asp814Asn) c.2241+307G>A (n.2241+307G>A) c.2205+307G>A (n.2205+307G>A) c.2470G>A (p.Asp824Asn) c.2133+307G>A (n.2133+307G>A) c.1680-5896G>A (n.1680-5896G>A) c.2566G>A (p.Asp856Asn) c.2632G>A (p.Asp878Asn) c.2629G>A (p.Asp877Asn) c.2602G>A (p.Asp868Asn) c.2548G>A (p.Asp850Asn) c.2521G>A (p.Asp841Asn) c.2506G>A (p.Asp836Asn) c.2113G>A (p.Asp705Asn) c.2575G>A (p.Asp859Asn) c.2512G>A (p.Asp838Asn) c.2509G>A (p.Asp837Asn) c.2467G>A (p.Asp823Asn) c.1540G>A (p.Asp514Asn) | gnomAD v4 |
20 | g.63406740G>A | CA9958065 | KCNQ2 | c.2577C>T (p.Thr859=) c.2523C>T (p.Thr841=) c.1920C>T (p.Thr640=) c.2430C>T (p.Thr810=) c.2091C>T (p.Thr697=) c.2439C>T (p.Thr813=) c.2241+306C>T (n.2241+306C>T) c.2205+306C>T (n.2205+306C>T) c.2469C>T (p.Thr823=) c.2133+306C>T (n.2133+306C>T) c.1680-5897C>T (n.1680-5897C>T) c.2565C>T (p.Thr855=) c.2631C>T (p.Thr877=) c.2628C>T (p.Thr876=) c.2601C>T (p.Thr867=) c.2547C>T (p.Thr849=) c.2520C>T (p.Thr840=) c.2505C>T (p.Thr835=) c.2112C>T (p.Thr704=) c.2574C>T (p.Thr858=) c.2511C>T (p.Thr837=) c.2508C>T (p.Thr836=) c.2466C>T (p.Thr822=) c.1539C>T (p.Thr513=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406740G>C | CA511339225 | KCNQ2 | c.2577C>G (p.Thr859=) c.2523C>G (p.Thr841=) c.1920C>G (p.Thr640=) c.2430C>G (p.Thr810=) c.2091C>G (p.Thr697=) c.2439C>G (p.Thr813=) c.2241+306C>G (n.2241+306C>G) c.2205+306C>G (n.2205+306C>G) c.2469C>G (p.Thr823=) c.2133+306C>G (n.2133+306C>G) c.1680-5897C>G (n.1680-5897C>G) c.2565C>G (p.Thr855=) c.2631C>G (p.Thr877=) c.2628C>G (p.Thr876=) c.2601C>G (p.Thr867=) c.2547C>G (p.Thr849=) c.2520C>G (p.Thr840=) c.2505C>G (p.Thr835=) c.2112C>G (p.Thr704=) c.2574C>G (p.Thr858=) c.2511C>G (p.Thr837=) c.2508C>G (p.Thr836=) c.2466C>G (p.Thr822=) c.1539C>G (p.Thr513=) | dbSNP |
20 | g.63406740G= | CA2374774227 | KCNQ2 | c.2577C= (p.Thr859=) c.2523C= (p.Thr841=) c.1920C= (p.Thr640=) c.2430C= (p.Thr810=) c.2091C= (p.Thr697=) c.2439C= (p.Thr813=) c.2241+306C= (n.2241+306C=) c.2205+306C= (n.2205+306C=) c.2469C= (p.Thr823=) c.2133+306C= (n.2133+306C=) c.1680-5897C= (n.1680-5897C=) c.2565C= (p.Thr855=) c.2631C= (p.Thr877=) c.2628C= (p.Thr876=) c.2601C= (p.Thr867=) c.2547C= (p.Thr849=) c.2520C= (p.Thr840=) c.2505C= (p.Thr835=) c.2112C= (p.Thr704=) c.2574C= (p.Thr858=) c.2511C= (p.Thr837=) c.2508C= (p.Thr836=) c.2466C= (p.Thr822=) c.1539C= (p.Thr513=) | |
20 | g.63406740G>T | CA511339226 | KCNQ2 | c.2577C>A (p.Thr859=) c.2523C>A (p.Thr841=) c.1920C>A (p.Thr640=) c.2430C>A (p.Thr810=) c.2091C>A (p.Thr697=) c.2439C>A (p.Thr813=) c.2241+306C>A (n.2241+306C>A) c.2205+306C>A (n.2205+306C>A) c.2469C>A (p.Thr823=) c.2133+306C>A (n.2133+306C>A) c.1680-5897C>A (n.1680-5897C>A) c.2565C>A (p.Thr855=) c.2631C>A (p.Thr877=) c.2628C>A (p.Thr876=) c.2601C>A (p.Thr867=) c.2547C>A (p.Thr849=) c.2520C>A (p.Thr840=) c.2505C>A (p.Thr835=) c.2112C>A (p.Thr704=) c.2574C>A (p.Thr858=) c.2511C>A (p.Thr837=) c.2508C>A (p.Thr836=) c.2466C>A (p.Thr822=) c.1539C>A (p.Thr513=) | |
20 | g.63406741G>A | CA409636709 | KCNQ2 | c.2576C>T (p.Thr859Ile) c.2522C>T (p.Thr841Ile) c.1919C>T (p.Thr640Ile) c.2429C>T (p.Thr810Ile) c.2090C>T (p.Thr697Ile) c.2438C>T (p.Thr813Ile) c.2241+305C>T (n.2241+305C>T) c.2205+305C>T (n.2205+305C>T) c.2468C>T (p.Thr823Ile) c.2133+305C>T (n.2133+305C>T) c.1680-5898C>T (n.1680-5898C>T) c.2564C>T (p.Thr855Ile) c.2630C>T (p.Thr877Ile) c.2627C>T (p.Thr876Ile) c.2600C>T (p.Thr867Ile) c.2546C>T (p.Thr849Ile) c.2519C>T (p.Thr840Ile) c.2504C>T (p.Thr835Ile) c.2111C>T (p.Thr704Ile) c.2573C>T (p.Thr858Ile) c.2510C>T (p.Thr837Ile) c.2507C>T (p.Thr836Ile) c.2465C>T (p.Thr822Ile) c.1538C>T (p.Thr513Ile) | |
20 | g.63406741G>C | CA409636710 | KCNQ2 | c.2576C>G (p.Thr859Ser) c.2522C>G (p.Thr841Ser) c.1919C>G (p.Thr640Ser) c.2429C>G (p.Thr810Ser) c.2090C>G (p.Thr697Ser) c.2438C>G (p.Thr813Ser) c.2241+305C>G (n.2241+305C>G) c.2205+305C>G (n.2205+305C>G) c.2468C>G (p.Thr823Ser) c.2133+305C>G (n.2133+305C>G) c.1680-5898C>G (n.1680-5898C>G) c.2564C>G (p.Thr855Ser) c.2630C>G (p.Thr877Ser) c.2627C>G (p.Thr876Ser) c.2600C>G (p.Thr867Ser) c.2546C>G (p.Thr849Ser) c.2519C>G (p.Thr840Ser) c.2504C>G (p.Thr835Ser) c.2111C>G (p.Thr704Ser) c.2573C>G (p.Thr858Ser) c.2510C>G (p.Thr837Ser) c.2507C>G (p.Thr836Ser) c.2465C>G (p.Thr822Ser) c.1538C>G (p.Thr513Ser) | |
20 | g.63406741G>T | CA409636711 | KCNQ2 | c.2576C>A (p.Thr859Asn) c.2522C>A (p.Thr841Asn) c.1919C>A (p.Thr640Asn) c.2429C>A (p.Thr810Asn) c.2090C>A (p.Thr697Asn) c.2438C>A (p.Thr813Asn) c.2241+305C>A (n.2241+305C>A) c.2205+305C>A (n.2205+305C>A) c.2468C>A (p.Thr823Asn) c.2133+305C>A (n.2133+305C>A) c.1680-5898C>A (n.1680-5898C>A) c.2564C>A (p.Thr855Asn) c.2630C>A (p.Thr877Asn) c.2627C>A (p.Thr876Asn) c.2600C>A (p.Thr867Asn) c.2546C>A (p.Thr849Asn) c.2519C>A (p.Thr840Asn) c.2504C>A (p.Thr835Asn) c.2111C>A (p.Thr704Asn) c.2573C>A (p.Thr858Asn) c.2510C>A (p.Thr837Asn) c.2507C>A (p.Thr836Asn) c.2465C>A (p.Thr822Asn) c.1538C>A (p.Thr513Asn) | gnomAD v4 |
20 | g.63406742T>A | CA409636714 | KCNQ2 | c.2575A>T (p.Thr859Ser) c.2521A>T (p.Thr841Ser) c.1918A>T (p.Thr640Ser) c.2428A>T (p.Thr810Ser) c.2089A>T (p.Thr697Ser) c.2437A>T (p.Thr813Ser) c.2241+304A>T (n.2241+304A>T) c.2205+304A>T (n.2205+304A>T) c.2467A>T (p.Thr823Ser) c.2133+304A>T (n.2133+304A>T) c.1680-5899A>T (n.1680-5899A>T) c.2563A>T (p.Thr855Ser) c.2629A>T (p.Thr877Ser) c.2626A>T (p.Thr876Ser) c.2599A>T (p.Thr867Ser) c.2545A>T (p.Thr849Ser) c.2518A>T (p.Thr840Ser) c.2503A>T (p.Thr835Ser) c.2110A>T (p.Thr704Ser) c.2572A>T (p.Thr858Ser) c.2509A>T (p.Thr837Ser) c.2506A>T (p.Thr836Ser) c.2464A>T (p.Thr822Ser) c.1537A>T (p.Thr513Ser) | |
20 | g.63406742T>C | CA409636716 | KCNQ2 | c.2575A>G (p.Thr859Ala) c.2521A>G (p.Thr841Ala) c.1918A>G (p.Thr640Ala) c.2428A>G (p.Thr810Ala) c.2089A>G (p.Thr697Ala) c.2437A>G (p.Thr813Ala) c.2241+304A>G (n.2241+304A>G) c.2205+304A>G (n.2205+304A>G) c.2467A>G (p.Thr823Ala) c.2133+304A>G (n.2133+304A>G) c.1680-5899A>G (n.1680-5899A>G) c.2563A>G (p.Thr855Ala) c.2629A>G (p.Thr877Ala) c.2626A>G (p.Thr876Ala) c.2599A>G (p.Thr867Ala) c.2545A>G (p.Thr849Ala) c.2518A>G (p.Thr840Ala) c.2503A>G (p.Thr835Ala) c.2110A>G (p.Thr704Ala) c.2572A>G (p.Thr858Ala) c.2509A>G (p.Thr837Ala) c.2506A>G (p.Thr836Ala) c.2464A>G (p.Thr822Ala) c.1537A>G (p.Thr513Ala) | |
20 | g.63406742T>G | CA409636718 | KCNQ2 | c.2575A>C (p.Thr859Pro) c.2521A>C (p.Thr841Pro) c.1918A>C (p.Thr640Pro) c.2428A>C (p.Thr810Pro) c.2089A>C (p.Thr697Pro) c.2437A>C (p.Thr813Pro) c.2241+304A>C (n.2241+304A>C) c.2205+304A>C (n.2205+304A>C) c.2467A>C (p.Thr823Pro) c.2133+304A>C (n.2133+304A>C) c.1680-5899A>C (n.1680-5899A>C) c.2563A>C (p.Thr855Pro) c.2629A>C (p.Thr877Pro) c.2626A>C (p.Thr876Pro) c.2599A>C (p.Thr867Pro) c.2545A>C (p.Thr849Pro) c.2518A>C (p.Thr840Pro) c.2503A>C (p.Thr835Pro) c.2110A>C (p.Thr704Pro) c.2572A>C (p.Thr858Pro) c.2509A>C (p.Thr837Pro) c.2506A>C (p.Thr836Pro) c.2464A>C (p.Thr822Pro) c.1537A>C (p.Thr513Pro) | |
20 | g.63406743G>A | CA511339227 | KCNQ2 | c.2574C>T (p.Asp858=) c.2520C>T (p.Asp840=) c.1917C>T (p.Asp639=) c.2427C>T (p.Asp809=) c.2088C>T (p.Asp696=) c.2436C>T (p.Asp812=) c.2241+303C>T (n.2241+303C>T) c.2205+303C>T (n.2205+303C>T) c.2466C>T (p.Asp822=) c.2133+303C>T (n.2133+303C>T) c.1680-5900C>T (n.1680-5900C>T) c.2562C>T (p.Asp854=) c.2628C>T (p.Asp876=) c.2625C>T (p.Asp875=) c.2598C>T (p.Asp866=) c.2544C>T (p.Asp848=) c.2517C>T (p.Asp839=) c.2502C>T (p.Asp834=) c.2109C>T (p.Asp703=) c.2571C>T (p.Asp857=) c.2508C>T (p.Asp836=) c.2505C>T (p.Asp835=) c.2463C>T (p.Asp821=) c.1536C>T (p.Asp512=) | dbSNP |
20 | g.63406743G>C | CA409636720 | KCNQ2 | c.2574C>G (p.Asp858Glu) c.2520C>G (p.Asp840Glu) c.1917C>G (p.Asp639Glu) c.2427C>G (p.Asp809Glu) c.2088C>G (p.Asp696Glu) c.2436C>G (p.Asp812Glu) c.2241+303C>G (n.2241+303C>G) c.2205+303C>G (n.2205+303C>G) c.2466C>G (p.Asp822Glu) c.2133+303C>G (n.2133+303C>G) c.1680-5900C>G (n.1680-5900C>G) c.2562C>G (p.Asp854Glu) c.2628C>G (p.Asp876Glu) c.2625C>G (p.Asp875Glu) c.2598C>G (p.Asp866Glu) c.2544C>G (p.Asp848Glu) c.2517C>G (p.Asp839Glu) c.2502C>G (p.Asp834Glu) c.2109C>G (p.Asp703Glu) c.2571C>G (p.Asp857Glu) c.2508C>G (p.Asp836Glu) c.2505C>G (p.Asp835Glu) c.2463C>G (p.Asp821Glu) c.1536C>G (p.Asp512Glu) | |
20 | g.63406743G= | CA2374774228 | KCNQ2 | c.2574C= (p.Asp858=) c.2520C= (p.Asp840=) c.1917C= (p.Asp639=) c.2427C= (p.Asp809=) c.2088C= (p.Asp696=) c.2436C= (p.Asp812=) c.2241+303C= (n.2241+303C=) c.2205+303C= (n.2205+303C=) c.2466C= (p.Asp822=) c.2133+303C= (n.2133+303C=) c.1680-5900C= (n.1680-5900C=) c.2562C= (p.Asp854=) c.2628C= (p.Asp876=) c.2625C= (p.Asp875=) c.2598C= (p.Asp866=) c.2544C= (p.Asp848=) c.2517C= (p.Asp839=) c.2502C= (p.Asp834=) c.2109C= (p.Asp703=) c.2571C= (p.Asp857=) c.2508C= (p.Asp836=) c.2505C= (p.Asp835=) c.2463C= (p.Asp821=) c.1536C= (p.Asp512=) | |
20 | g.63406743G>T | CA409636722 | KCNQ2 | c.2574C>A (p.Asp858Glu) c.2520C>A (p.Asp840Glu) c.1917C>A (p.Asp639Glu) c.2427C>A (p.Asp809Glu) c.2088C>A (p.Asp696Glu) c.2436C>A (p.Asp812Glu) c.2241+303C>A (n.2241+303C>A) c.2205+303C>A (n.2205+303C>A) c.2466C>A (p.Asp822Glu) c.2133+303C>A (n.2133+303C>A) c.1680-5900C>A (n.1680-5900C>A) c.2562C>A (p.Asp854Glu) c.2628C>A (p.Asp876Glu) c.2625C>A (p.Asp875Glu) c.2598C>A (p.Asp866Glu) c.2544C>A (p.Asp848Glu) c.2517C>A (p.Asp839Glu) c.2502C>A (p.Asp834Glu) c.2109C>A (p.Asp703Glu) c.2571C>A (p.Asp857Glu) c.2508C>A (p.Asp836Glu) c.2505C>A (p.Asp835Glu) c.2463C>A (p.Asp821Glu) c.1536C>A (p.Asp512Glu) | |
20 | g.63406744T>A | CA409636726 | KCNQ2 | c.2573A>T (p.Asp858Val) c.2519A>T (p.Asp840Val) c.1916A>T (p.Asp639Val) c.2426A>T (p.Asp809Val) c.2087A>T (p.Asp696Val) c.2435A>T (p.Asp812Val) c.2241+302A>T (n.2241+302A>T) c.2205+302A>T (n.2205+302A>T) c.2465A>T (p.Asp822Val) c.2133+302A>T (n.2133+302A>T) c.1680-5901A>T (n.1680-5901A>T) c.2561A>T (p.Asp854Val) c.2627A>T (p.Asp876Val) c.2624A>T (p.Asp875Val) c.2597A>T (p.Asp866Val) c.2543A>T (p.Asp848Val) c.2516A>T (p.Asp839Val) c.2501A>T (p.Asp834Val) c.2108A>T (p.Asp703Val) c.2570A>T (p.Asp857Val) c.2507A>T (p.Asp836Val) c.2504A>T (p.Asp835Val) c.2462A>T (p.Asp821Val) c.1535A>T (p.Asp512Val) | |
20 | g.63406744T>C | CA409636728 | KCNQ2 | c.2573A>G (p.Asp858Gly) c.2519A>G (p.Asp840Gly) c.1916A>G (p.Asp639Gly) c.2426A>G (p.Asp809Gly) c.2087A>G (p.Asp696Gly) c.2435A>G (p.Asp812Gly) c.2241+302A>G (n.2241+302A>G) c.2205+302A>G (n.2205+302A>G) c.2465A>G (p.Asp822Gly) c.2133+302A>G (n.2133+302A>G) c.1680-5901A>G (n.1680-5901A>G) c.2561A>G (p.Asp854Gly) c.2627A>G (p.Asp876Gly) c.2624A>G (p.Asp875Gly) c.2597A>G (p.Asp866Gly) c.2543A>G (p.Asp848Gly) c.2516A>G (p.Asp839Gly) c.2501A>G (p.Asp834Gly) c.2108A>G (p.Asp703Gly) c.2570A>G (p.Asp857Gly) c.2507A>G (p.Asp836Gly) c.2504A>G (p.Asp835Gly) c.2462A>G (p.Asp821Gly) c.1535A>G (p.Asp512Gly) | |
20 | g.63406744T>G | CA409636724 | KCNQ2 | c.2573A>C (p.Asp858Ala) c.2519A>C (p.Asp840Ala) c.1916A>C (p.Asp639Ala) c.2426A>C (p.Asp809Ala) c.2087A>C (p.Asp696Ala) c.2435A>C (p.Asp812Ala) c.2241+302A>C (n.2241+302A>C) c.2205+302A>C (n.2205+302A>C) c.2465A>C (p.Asp822Ala) c.2133+302A>C (n.2133+302A>C) c.1680-5901A>C (n.1680-5901A>C) c.2561A>C (p.Asp854Ala) c.2627A>C (p.Asp876Ala) c.2624A>C (p.Asp875Ala) c.2597A>C (p.Asp866Ala) c.2543A>C (p.Asp848Ala) c.2516A>C (p.Asp839Ala) c.2501A>C (p.Asp834Ala) c.2108A>C (p.Asp703Ala) c.2570A>C (p.Asp857Ala) c.2507A>C (p.Asp836Ala) c.2504A>C (p.Asp835Ala) c.2462A>C (p.Asp821Ala) c.1535A>C (p.Asp512Ala) | |
20 | g.63406745C>A | CA409636730 | KCNQ2 | c.2572G>T (p.Asp858Tyr) c.2518G>T (p.Asp840Tyr) c.1915G>T (p.Asp639Tyr) c.2425G>T (p.Asp809Tyr) c.2086G>T (p.Asp696Tyr) c.2434G>T (p.Asp812Tyr) c.2241+301G>T (n.2241+301G>T) c.2205+301G>T (n.2205+301G>T) c.2464G>T (p.Asp822Tyr) c.2133+301G>T (n.2133+301G>T) c.1680-5902G>T (n.1680-5902G>T) c.2560G>T (p.Asp854Tyr) c.2626G>T (p.Asp876Tyr) c.2623G>T (p.Asp875Tyr) c.2596G>T (p.Asp866Tyr) c.2542G>T (p.Asp848Tyr) c.2515G>T (p.Asp839Tyr) c.2500G>T (p.Asp834Tyr) c.2107G>T (p.Asp703Tyr) c.2569G>T (p.Asp857Tyr) c.2506G>T (p.Asp836Tyr) c.2503G>T (p.Asp835Tyr) c.2461G>T (p.Asp821Tyr) c.1534G>T (p.Asp512Tyr) | |
20 | g.63406745C>G | CA409636732 | KCNQ2 | c.2572G>C (p.Asp858His) c.2518G>C (p.Asp840His) c.1915G>C (p.Asp639His) c.2425G>C (p.Asp809His) c.2086G>C (p.Asp696His) c.2434G>C (p.Asp812His) c.2241+301G>C (n.2241+301G>C) c.2205+301G>C (n.2205+301G>C) c.2464G>C (p.Asp822His) c.2133+301G>C (n.2133+301G>C) c.1680-5902G>C (n.1680-5902G>C) c.2560G>C (p.Asp854His) c.2626G>C (p.Asp876His) c.2623G>C (p.Asp875His) c.2596G>C (p.Asp866His) c.2542G>C (p.Asp848His) c.2515G>C (p.Asp839His) c.2500G>C (p.Asp834His) c.2107G>C (p.Asp703His) c.2569G>C (p.Asp857His) c.2506G>C (p.Asp836His) c.2503G>C (p.Asp835His) c.2461G>C (p.Asp821His) c.1534G>C (p.Asp512His) | |
20 | g.63406745C>T | CA409636733 | KCNQ2 | c.2572G>A (p.Asp858Asn) c.2518G>A (p.Asp840Asn) c.1915G>A (p.Asp639Asn) c.2425G>A (p.Asp809Asn) c.2086G>A (p.Asp696Asn) c.2434G>A (p.Asp812Asn) c.2241+301G>A (n.2241+301G>A) c.2205+301G>A (n.2205+301G>A) c.2464G>A (p.Asp822Asn) c.2133+301G>A (n.2133+301G>A) c.1680-5902G>A (n.1680-5902G>A) c.2560G>A (p.Asp854Asn) c.2626G>A (p.Asp876Asn) c.2623G>A (p.Asp875Asn) c.2596G>A (p.Asp866Asn) c.2542G>A (p.Asp848Asn) c.2515G>A (p.Asp839Asn) c.2500G>A (p.Asp834Asn) c.2107G>A (p.Asp703Asn) c.2569G>A (p.Asp857Asn) c.2506G>A (p.Asp836Asn) c.2503G>A (p.Asp835Asn) c.2461G>A (p.Asp821Asn) c.1534G>A (p.Asp512Asn) | |
20 | g.63406746T>A | CA511339228 | KCNQ2 | c.2571A>T (p.Ser857=) c.2517A>T (p.Ser839=) c.1914A>T (p.Ser638=) c.2424A>T (p.Ser808=) c.2085A>T (p.Ser695=) c.2433A>T (p.Ser811=) c.2241+300A>T (n.2241+300A>T) c.2205+300A>T (n.2205+300A>T) c.2463A>T (p.Ser821=) c.2133+300A>T (n.2133+300A>T) c.1680-5903A>T (n.1680-5903A>T) c.2559A>T (p.Ser853=) c.2625A>T (p.Ser875=) c.2622A>T (p.Ser874=) c.2595A>T (p.Ser865=) c.2541A>T (p.Ser847=) c.2514A>T (p.Ser838=) c.2499A>T (p.Ser833=) c.2106A>T (p.Ser702=) c.2568A>T (p.Ser856=) c.2505A>T (p.Ser835=) c.2502A>T (p.Ser834=) c.2460A>T (p.Ser820=) c.1533A>T (p.Ser511=) | |
20 | g.63406746T>C | CA511339229 | KCNQ2 | c.2571A>G (p.Ser857=) c.2517A>G (p.Ser839=) c.1914A>G (p.Ser638=) c.2424A>G (p.Ser808=) c.2085A>G (p.Ser695=) c.2433A>G (p.Ser811=) c.2241+300A>G (n.2241+300A>G) c.2205+300A>G (n.2205+300A>G) c.2463A>G (p.Ser821=) c.2133+300A>G (n.2133+300A>G) c.1680-5903A>G (n.1680-5903A>G) c.2559A>G (p.Ser853=) c.2625A>G (p.Ser875=) c.2622A>G (p.Ser874=) c.2595A>G (p.Ser865=) c.2541A>G (p.Ser847=) c.2514A>G (p.Ser838=) c.2499A>G (p.Ser833=) c.2106A>G (p.Ser702=) c.2568A>G (p.Ser856=) c.2505A>G (p.Ser835=) c.2502A>G (p.Ser834=) c.2460A>G (p.Ser820=) c.1533A>G (p.Ser511=) | |
20 | g.63406746T>G | CA511339230 | KCNQ2 | c.2571A>C (p.Ser857=) c.2517A>C (p.Ser839=) c.1914A>C (p.Ser638=) c.2424A>C (p.Ser808=) c.2085A>C (p.Ser695=) c.2433A>C (p.Ser811=) c.2241+300A>C (n.2241+300A>C) c.2205+300A>C (n.2205+300A>C) c.2463A>C (p.Ser821=) c.2133+300A>C (n.2133+300A>C) c.1680-5903A>C (n.1680-5903A>C) c.2559A>C (p.Ser853=) c.2625A>C (p.Ser875=) c.2622A>C (p.Ser874=) c.2595A>C (p.Ser865=) c.2541A>C (p.Ser847=) c.2514A>C (p.Ser838=) c.2499A>C (p.Ser833=) c.2106A>C (p.Ser702=) c.2568A>C (p.Ser856=) c.2505A>C (p.Ser835=) c.2502A>C (p.Ser834=) c.2460A>C (p.Ser820=) c.1533A>C (p.Ser511=) | |
20 | g.63406747G>A | CA409636735 | KCNQ2 | c.2570C>T (p.Ser857Leu) c.2516C>T (p.Ser839Leu) c.1913C>T (p.Ser638Leu) c.2423C>T (p.Ser808Leu) c.2084C>T (p.Ser695Leu) c.2432C>T (p.Ser811Leu) c.2241+299C>T (n.2241+299C>T) c.2205+299C>T (n.2205+299C>T) c.2462C>T (p.Ser821Leu) c.2133+299C>T (n.2133+299C>T) c.1680-5904C>T (n.1680-5904C>T) c.2558C>T (p.Ser853Leu) c.2624C>T (p.Ser875Leu) c.2621C>T (p.Ser874Leu) c.2594C>T (p.Ser865Leu) c.2540C>T (p.Ser847Leu) c.2513C>T (p.Ser838Leu) c.2498C>T (p.Ser833Leu) c.2105C>T (p.Ser702Leu) c.2567C>T (p.Ser856Leu) c.2504C>T (p.Ser835Leu) c.2501C>T (p.Ser834Leu) c.2459C>T (p.Ser820Leu) c.1532C>T (p.Ser511Leu) | COSMIC COSMIC COSMIC |
20 | g.63406747G>C | CA409636737 | KCNQ2 | c.2570C>G (p.Ser857Ter) c.2516C>G (p.Ser839Ter) c.1913C>G (p.Ser638Ter) c.2423C>G (p.Ser808Ter) c.2084C>G (p.Ser695Ter) c.2432C>G (p.Ser811Ter) c.2241+299C>G (n.2241+299C>G) c.2205+299C>G (n.2205+299C>G) c.2462C>G (p.Ser821Ter) c.2133+299C>G (n.2133+299C>G) c.1680-5904C>G (n.1680-5904C>G) c.2558C>G (p.Ser853Ter) c.2624C>G (p.Ser875Ter) c.2621C>G (p.Ser874Ter) c.2594C>G (p.Ser865Ter) c.2540C>G (p.Ser847Ter) c.2513C>G (p.Ser838Ter) c.2498C>G (p.Ser833Ter) c.2105C>G (p.Ser702Ter) c.2567C>G (p.Ser856Ter) c.2504C>G (p.Ser835Ter) c.2501C>G (p.Ser834Ter) c.2459C>G (p.Ser820Ter) c.1532C>G (p.Ser511Ter) | |
20 | g.63406747G= | CA2374774229 | KCNQ2 | c.2570C= (p.Ser857=) c.2516C= (p.Ser839=) c.1913C= (p.Ser638=) c.2423C= (p.Ser808=) c.2084C= (p.Ser695=) c.2432C= (p.Ser811=) c.2241+299C= (n.2241+299C=) c.2205+299C= (n.2205+299C=) c.2462C= (p.Ser821=) c.2133+299C= (n.2133+299C=) c.1680-5904C= (n.1680-5904C=) c.2558C= (p.Ser853=) c.2624C= (p.Ser875=) c.2621C= (p.Ser874=) c.2594C= (p.Ser865=) c.2540C= (p.Ser847=) c.2513C= (p.Ser838=) c.2498C= (p.Ser833=) c.2105C= (p.Ser702=) c.2567C= (p.Ser856=) c.2504C= (p.Ser835=) c.2501C= (p.Ser834=) c.2459C= (p.Ser820=) c.1532C= (p.Ser511=) | |
20 | g.63406747G>T | CA409636739 | KCNQ2 | c.2570C>A (p.Ser857Ter) c.2516C>A (p.Ser839Ter) c.1913C>A (p.Ser638Ter) c.2423C>A (p.Ser808Ter) c.2084C>A (p.Ser695Ter) c.2432C>A (p.Ser811Ter) c.2241+299C>A (n.2241+299C>A) c.2205+299C>A (n.2205+299C>A) c.2462C>A (p.Ser821Ter) c.2133+299C>A (n.2133+299C>A) c.1680-5904C>A (n.1680-5904C>A) c.2558C>A (p.Ser853Ter) c.2624C>A (p.Ser875Ter) c.2621C>A (p.Ser874Ter) c.2594C>A (p.Ser865Ter) c.2540C>A (p.Ser847Ter) c.2513C>A (p.Ser838Ter) c.2498C>A (p.Ser833Ter) c.2105C>A (p.Ser702Ter) c.2567C>A (p.Ser856Ter) c.2504C>A (p.Ser835Ter) c.2501C>A (p.Ser834Ter) c.2459C>A (p.Ser820Ter) c.1532C>A (p.Ser511Ter) | ClinVar dbSNP |
20 | g.63406748A>C | CA409636740 | KCNQ2 | c.2569T>G (p.Ser857Ala) c.2515T>G (p.Ser839Ala) c.1912T>G (p.Ser638Ala) c.2422T>G (p.Ser808Ala) c.2083T>G (p.Ser695Ala) c.2431T>G (p.Ser811Ala) c.2241+298T>G (n.2241+298T>G) c.2205+298T>G (n.2205+298T>G) c.2461T>G (p.Ser821Ala) c.2133+298T>G (n.2133+298T>G) c.1680-5905T>G (n.1680-5905T>G) c.2557T>G (p.Ser853Ala) c.2623T>G (p.Ser875Ala) c.2620T>G (p.Ser874Ala) c.2593T>G (p.Ser865Ala) c.2539T>G (p.Ser847Ala) c.2512T>G (p.Ser838Ala) c.2497T>G (p.Ser833Ala) c.2104T>G (p.Ser702Ala) c.2566T>G (p.Ser856Ala) c.2503T>G (p.Ser835Ala) c.2500T>G (p.Ser834Ala) c.2458T>G (p.Ser820Ala) c.1531T>G (p.Ser511Ala) | |
20 | g.63406748A>G | CA409636744 | KCNQ2 | c.2569T>C (p.Ser857Pro) c.2515T>C (p.Ser839Pro) c.1912T>C (p.Ser638Pro) c.2422T>C (p.Ser808Pro) c.2083T>C (p.Ser695Pro) c.2431T>C (p.Ser811Pro) c.2241+298T>C (n.2241+298T>C) c.2205+298T>C (n.2205+298T>C) c.2461T>C (p.Ser821Pro) c.2133+298T>C (n.2133+298T>C) c.1680-5905T>C (n.1680-5905T>C) c.2557T>C (p.Ser853Pro) c.2623T>C (p.Ser875Pro) c.2620T>C (p.Ser874Pro) c.2593T>C (p.Ser865Pro) c.2539T>C (p.Ser847Pro) c.2512T>C (p.Ser838Pro) c.2497T>C (p.Ser833Pro) c.2104T>C (p.Ser702Pro) c.2566T>C (p.Ser856Pro) c.2503T>C (p.Ser835Pro) c.2500T>C (p.Ser834Pro) c.2458T>C (p.Ser820Pro) c.1531T>C (p.Ser511Pro) | COSMIC COSMIC COSMIC |
20 | g.63406748A>T | CA409636742 | KCNQ2 | c.2569T>A (p.Ser857Thr) c.2515T>A (p.Ser839Thr) c.1912T>A (p.Ser638Thr) c.2422T>A (p.Ser808Thr) c.2083T>A (p.Ser695Thr) c.2431T>A (p.Ser811Thr) c.2241+298T>A (n.2241+298T>A) c.2205+298T>A (n.2205+298T>A) c.2461T>A (p.Ser821Thr) c.2133+298T>A (n.2133+298T>A) c.1680-5905T>A (n.1680-5905T>A) c.2557T>A (p.Ser853Thr) c.2623T>A (p.Ser875Thr) c.2620T>A (p.Ser874Thr) c.2593T>A (p.Ser865Thr) c.2539T>A (p.Ser847Thr) c.2512T>A (p.Ser838Thr) c.2497T>A (p.Ser833Thr) c.2104T>A (p.Ser702Thr) c.2566T>A (p.Ser856Thr) c.2503T>A (p.Ser835Thr) c.2500T>A (p.Ser834Thr) c.2458T>A (p.Ser820Thr) c.1531T>A (p.Ser511Thr) | gnomAD v4 |
20 | g.63406749C>A | CA409636745 | KCNQ2 | c.2568G>T (p.Glu856Asp) c.2514G>T (p.Glu838Asp) c.1911G>T (p.Glu637Asp) c.2421G>T (p.Glu807Asp) c.2082G>T (p.Glu694Asp) c.2430G>T (p.Glu810Asp) c.2241+297G>T (n.2241+297G>T) c.2205+297G>T (n.2205+297G>T) c.2460G>T (p.Glu820Asp) c.2133+297G>T (n.2133+297G>T) c.1680-5906G>T (n.1680-5906G>T) c.2556G>T (p.Glu852Asp) c.2622G>T (p.Glu874Asp) c.2619G>T (p.Glu873Asp) c.2592G>T (p.Glu864Asp) c.2538G>T (p.Glu846Asp) c.2511G>T (p.Glu837Asp) c.2496G>T (p.Glu832Asp) c.2103G>T (p.Glu701Asp) c.2565G>T (p.Glu855Asp) c.2502G>T (p.Glu834Asp) c.2499G>T (p.Glu833Asp) c.2457G>T (p.Glu819Asp) c.1530G>T (p.Glu510Asp) | |
20 | g.63406749C>G | CA409636747 | KCNQ2 | c.2568G>C (p.Glu856Asp) c.2514G>C (p.Glu838Asp) c.1911G>C (p.Glu637Asp) c.2421G>C (p.Glu807Asp) c.2082G>C (p.Glu694Asp) c.2430G>C (p.Glu810Asp) c.2241+297G>C (n.2241+297G>C) c.2205+297G>C (n.2205+297G>C) c.2460G>C (p.Glu820Asp) c.2133+297G>C (n.2133+297G>C) c.1680-5906G>C (n.1680-5906G>C) c.2556G>C (p.Glu852Asp) c.2622G>C (p.Glu874Asp) c.2619G>C (p.Glu873Asp) c.2592G>C (p.Glu864Asp) c.2538G>C (p.Glu846Asp) c.2511G>C (p.Glu837Asp) c.2496G>C (p.Glu832Asp) c.2103G>C (p.Glu701Asp) c.2565G>C (p.Glu855Asp) c.2502G>C (p.Glu834Asp) c.2499G>C (p.Glu833Asp) c.2457G>C (p.Glu819Asp) c.1530G>C (p.Glu510Asp) | |
20 | g.63406749C>T | CA511339231 | KCNQ2 | c.2568G>A (p.Glu856=) c.2514G>A (p.Glu838=) c.1911G>A (p.Glu637=) c.2421G>A (p.Glu807=) c.2082G>A (p.Glu694=) c.2430G>A (p.Glu810=) c.2241+297G>A (n.2241+297G>A) c.2205+297G>A (n.2205+297G>A) c.2460G>A (p.Glu820=) c.2133+297G>A (n.2133+297G>A) c.1680-5906G>A (n.1680-5906G>A) c.2556G>A (p.Glu852=) c.2622G>A (p.Glu874=) c.2619G>A (p.Glu873=) c.2592G>A (p.Glu864=) c.2538G>A (p.Glu846=) c.2511G>A (p.Glu837=) c.2496G>A (p.Glu832=) c.2103G>A (p.Glu701=) c.2565G>A (p.Glu855=) c.2502G>A (p.Glu834=) c.2499G>A (p.Glu833=) c.2457G>A (p.Glu819=) c.1530G>A (p.Glu510=) | |
20 | g.63406749dup | CA2697547446 | KCNQ2 | c.2568dup (p.Ser857ValfsTer26) c.2514dup (p.Ser839ValfsTer26) c.1911dup (p.Ser638ValfsTer26) c.2421dup (p.Ser808ValfsTer26) c.2082dup (p.Ser695ValfsTer26) c.2430dup (p.Ser811ValfsTer26) c.2241+297dup (n.2241+297dup) c.2205+297dup (n.2205+297dup) c.2460dup (p.Ser821ValfsTer26) c.2133+297dup (n.2133+297dup) c.1680-5906dup (n.1680-5906dup) c.2556dup (p.Ser853ValfsTer26) c.2622dup (p.Ser875ValfsTer26) c.2619dup (p.Ser874ValfsTer26) c.2592dup (p.Ser865ValfsTer26) c.2538dup (p.Ser847ValfsTer26) c.2511dup (p.Ser838ValfsTer26) c.2496dup (p.Ser833ValfsTer26) c.2103dup (p.Ser702ValfsTer26) c.2565dup (p.Ser856ValfsTer26) c.2502dup (p.Ser835ValfsTer26) c.2499dup (p.Ser834ValfsTer26) c.2457dup (p.Ser820ValfsTer26) c.1530dup (p.Ser511ValfsTer26) | ClinVar |
20 | g.63406752_63406753del | CA2695230033 | KCNQ2 | c.2567_2568del (p.Glu856ValfsTer26) c.2513_2514del (p.Glu838ValfsTer26) c.1910_1911del (p.Glu637ValfsTer26) c.2420_2421del (p.Glu807ValfsTer26) c.2081_2082del (p.Glu694ValfsTer26) c.2429_2430del (p.Glu810ValfsTer26) c.2241+296_2241+297del (n.2241+296_2241+297del) c.2205+296_2205+297del (n.2205+296_2205+297del) c.2459_2460del (p.Glu820ValfsTer26) c.2133+296_2133+297del (n.2133+296_2133+297del) c.1680-5907_1680-5906del (n.1680-5907_1680-5906del) c.2555_2556del (p.Glu852ValfsTer26) c.2621_2622del (p.Glu874ValfsTer26) c.2618_2619del (p.Glu873ValfsTer26) c.2591_2592del (p.Glu864ValfsTer26) c.2537_2538del (p.Glu846ValfsTer26) c.2510_2511del (p.Glu837ValfsTer26) c.2495_2496del (p.Glu832ValfsTer26) c.2102_2103del (p.Glu701ValfsTer26) c.2564_2565del (p.Glu855ValfsTer26) c.2501_2502del (p.Glu834ValfsTer26) c.2498_2499del (p.Glu833ValfsTer26) c.2456_2457del (p.Glu819ValfsTer26) c.1529_1530del (p.Glu510ValfsTer26) | |
20 | g.63406750T>A | CA409636750 | KCNQ2 | c.2567A>T (p.Glu856Val) c.2513A>T (p.Glu838Val) c.1910A>T (p.Glu637Val) c.2420A>T (p.Glu807Val) c.2081A>T (p.Glu694Val) c.2429A>T (p.Glu810Val) c.2241+296A>T (n.2241+296A>T) c.2205+296A>T (n.2205+296A>T) c.2459A>T (p.Glu820Val) c.2133+296A>T (n.2133+296A>T) c.1680-5907A>T (n.1680-5907A>T) c.2555A>T (p.Glu852Val) c.2621A>T (p.Glu874Val) c.2618A>T (p.Glu873Val) c.2591A>T (p.Glu864Val) c.2537A>T (p.Glu846Val) c.2510A>T (p.Glu837Val) c.2495A>T (p.Glu832Val) c.2102A>T (p.Glu701Val) c.2564A>T (p.Glu855Val) c.2501A>T (p.Glu834Val) c.2498A>T (p.Glu833Val) c.2456A>T (p.Glu819Val) c.1529A>T (p.Glu510Val) | |
20 | g.63406750T>C | CA409636751 | KCNQ2 | c.2567A>G (p.Glu856Gly) c.2513A>G (p.Glu838Gly) c.1910A>G (p.Glu637Gly) c.2420A>G (p.Glu807Gly) c.2081A>G (p.Glu694Gly) c.2429A>G (p.Glu810Gly) c.2241+296A>G (n.2241+296A>G) c.2205+296A>G (n.2205+296A>G) c.2459A>G (p.Glu820Gly) c.2133+296A>G (n.2133+296A>G) c.1680-5907A>G (n.1680-5907A>G) c.2555A>G (p.Glu852Gly) c.2621A>G (p.Glu874Gly) c.2618A>G (p.Glu873Gly) c.2591A>G (p.Glu864Gly) c.2537A>G (p.Glu846Gly) c.2510A>G (p.Glu837Gly) c.2495A>G (p.Glu832Gly) c.2102A>G (p.Glu701Gly) c.2564A>G (p.Glu855Gly) c.2501A>G (p.Glu834Gly) c.2498A>G (p.Glu833Gly) c.2456A>G (p.Glu819Gly) c.1529A>G (p.Glu510Gly) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63406750T>G | CA409636753 | KCNQ2 | c.2567A>C (p.Glu856Ala) c.2513A>C (p.Glu838Ala) c.1910A>C (p.Glu637Ala) c.2420A>C (p.Glu807Ala) c.2081A>C (p.Glu694Ala) c.2429A>C (p.Glu810Ala) c.2241+296A>C (n.2241+296A>C) c.2205+296A>C (n.2205+296A>C) c.2459A>C (p.Glu820Ala) c.2133+296A>C (n.2133+296A>C) c.1680-5907A>C (n.1680-5907A>C) c.2555A>C (p.Glu852Ala) c.2621A>C (p.Glu874Ala) c.2618A>C (p.Glu873Ala) c.2591A>C (p.Glu864Ala) c.2537A>C (p.Glu846Ala) c.2510A>C (p.Glu837Ala) c.2495A>C (p.Glu832Ala) c.2102A>C (p.Glu701Ala) c.2564A>C (p.Glu855Ala) c.2501A>C (p.Glu834Ala) c.2498A>C (p.Glu833Ala) c.2456A>C (p.Glu819Ala) c.1529A>C (p.Glu510Ala) | |
20 | g.63406750T= | CA2374774230 | KCNQ2 | c.2567A= (p.Glu856=) c.2513A= (p.Glu838=) c.1910A= (p.Glu637=) c.2420A= (p.Glu807=) c.2081A= (p.Glu694=) c.2429A= (p.Glu810=) c.2241+296A= (n.2241+296A=) c.2205+296A= (n.2205+296A=) c.2459A= (p.Glu820=) c.2133+296A= (n.2133+296A=) c.1680-5907A= (n.1680-5907A=) c.2555A= (p.Glu852=) c.2621A= (p.Glu874=) c.2618A= (p.Glu873=) c.2591A= (p.Glu864=) c.2537A= (p.Glu846=) c.2510A= (p.Glu837=) c.2495A= (p.Glu832=) c.2102A= (p.Glu701=) c.2564A= (p.Glu855=) c.2501A= (p.Glu834=) c.2498A= (p.Glu833=) c.2456A= (p.Glu819=) c.1529A= (p.Glu510=) | |
20 | g.63406751C>A | CA409636756 | KCNQ2 | c.2566G>T (p.Glu856Ter) c.2512G>T (p.Glu838Ter) c.1909G>T (p.Glu637Ter) c.2419G>T (p.Glu807Ter) c.2080G>T (p.Glu694Ter) c.2428G>T (p.Glu810Ter) c.2241+295G>T (n.2241+295G>T) c.2205+295G>T (n.2205+295G>T) c.2458G>T (p.Glu820Ter) c.2133+295G>T (n.2133+295G>T) c.1680-5908G>T (n.1680-5908G>T) c.2554G>T (p.Glu852Ter) c.2620G>T (p.Glu874Ter) c.2617G>T (p.Glu873Ter) c.2590G>T (p.Glu864Ter) c.2536G>T (p.Glu846Ter) c.2509G>T (p.Glu837Ter) c.2494G>T (p.Glu832Ter) c.2101G>T (p.Glu701Ter) c.2563G>T (p.Glu855Ter) c.2500G>T (p.Glu834Ter) c.2497G>T (p.Glu833Ter) c.2455G>T (p.Glu819Ter) c.1528G>T (p.Glu510Ter) | |
20 | g.63406751C>G | CA409636757 | KCNQ2 | c.2566G>C (p.Glu856Gln) c.2512G>C (p.Glu838Gln) c.1909G>C (p.Glu637Gln) c.2419G>C (p.Glu807Gln) c.2080G>C (p.Glu694Gln) c.2428G>C (p.Glu810Gln) c.2241+295G>C (n.2241+295G>C) c.2205+295G>C (n.2205+295G>C) c.2458G>C (p.Glu820Gln) c.2133+295G>C (n.2133+295G>C) c.1680-5908G>C (n.1680-5908G>C) c.2554G>C (p.Glu852Gln) c.2620G>C (p.Glu874Gln) c.2617G>C (p.Glu873Gln) c.2590G>C (p.Glu864Gln) c.2536G>C (p.Glu846Gln) c.2509G>C (p.Glu837Gln) c.2494G>C (p.Glu832Gln) c.2101G>C (p.Glu701Gln) c.2563G>C (p.Glu855Gln) c.2500G>C (p.Glu834Gln) c.2497G>C (p.Glu833Gln) c.2455G>C (p.Glu819Gln) c.1528G>C (p.Glu510Gln) | ClinVar |
20 | g.63406751C>T | CA409636755 | KCNQ2 | c.2566G>A (p.Glu856Lys) c.2512G>A (p.Glu838Lys) c.1909G>A (p.Glu637Lys) c.2419G>A (p.Glu807Lys) c.2080G>A (p.Glu694Lys) c.2428G>A (p.Glu810Lys) c.2241+295G>A (n.2241+295G>A) c.2205+295G>A (n.2205+295G>A) c.2458G>A (p.Glu820Lys) c.2133+295G>A (n.2133+295G>A) c.1680-5908G>A (n.1680-5908G>A) c.2554G>A (p.Glu852Lys) c.2620G>A (p.Glu874Lys) c.2617G>A (p.Glu873Lys) c.2590G>A (p.Glu864Lys) c.2536G>A (p.Glu846Lys) c.2509G>A (p.Glu837Lys) c.2494G>A (p.Glu832Lys) c.2101G>A (p.Glu701Lys) c.2563G>A (p.Glu855Lys) c.2500G>A (p.Glu834Lys) c.2497G>A (p.Glu833Lys) c.2455G>A (p.Glu819Lys) c.1528G>A (p.Glu510Lys) | |
20 | g.63406752T>A | CA511339232 | KCNQ2 | c.2565A>T (p.Gly855=) c.2511A>T (p.Gly837=) c.1908A>T (p.Gly636=) c.2418A>T (p.Gly806=) c.2079A>T (p.Gly693=) c.2427A>T (p.Gly809=) c.2241+294A>T (n.2241+294A>T) c.2205+294A>T (n.2205+294A>T) c.2457A>T (p.Gly819=) c.2133+294A>T (n.2133+294A>T) c.1680-5909A>T (n.1680-5909A>T) c.2553A>T (p.Gly851=) c.2619A>T (p.Gly873=) c.2616A>T (p.Gly872=) c.2589A>T (p.Gly863=) c.2535A>T (p.Gly845=) c.2508A>T (p.Gly836=) c.2493A>T (p.Gly831=) c.2100A>T (p.Gly700=) c.2562A>T (p.Gly854=) c.2499A>T (p.Gly833=) c.2496A>T (p.Gly832=) c.2454A>T (p.Gly818=) c.1527A>T (p.Gly509=) | |
20 | g.63406752T>C | CA511339233 | KCNQ2 | c.2565A>G (p.Gly855=) c.2511A>G (p.Gly837=) c.1908A>G (p.Gly636=) c.2418A>G (p.Gly806=) c.2079A>G (p.Gly693=) c.2427A>G (p.Gly809=) c.2241+294A>G (n.2241+294A>G) c.2205+294A>G (n.2205+294A>G) c.2457A>G (p.Gly819=) c.2133+294A>G (n.2133+294A>G) c.1680-5909A>G (n.1680-5909A>G) c.2553A>G (p.Gly851=) c.2619A>G (p.Gly873=) c.2616A>G (p.Gly872=) c.2589A>G (p.Gly863=) c.2535A>G (p.Gly845=) c.2508A>G (p.Gly836=) c.2493A>G (p.Gly831=) c.2100A>G (p.Gly700=) c.2562A>G (p.Gly854=) c.2499A>G (p.Gly833=) c.2496A>G (p.Gly832=) c.2454A>G (p.Gly818=) c.1527A>G (p.Gly509=) | |
20 | g.63406752T>G | CA511339234 | KCNQ2 | c.2565A>C (p.Gly855=) c.2511A>C (p.Gly837=) c.1908A>C (p.Gly636=) c.2418A>C (p.Gly806=) c.2079A>C (p.Gly693=) c.2427A>C (p.Gly809=) c.2241+294A>C (n.2241+294A>C) c.2205+294A>C (n.2205+294A>C) c.2457A>C (p.Gly819=) c.2133+294A>C (n.2133+294A>C) c.1680-5909A>C (n.1680-5909A>C) c.2553A>C (p.Gly851=) c.2619A>C (p.Gly873=) c.2616A>C (p.Gly872=) c.2589A>C (p.Gly863=) c.2535A>C (p.Gly845=) c.2508A>C (p.Gly836=) c.2493A>C (p.Gly831=) c.2100A>C (p.Gly700=) c.2562A>C (p.Gly854=) c.2499A>C (p.Gly833=) c.2496A>C (p.Gly832=) c.2454A>C (p.Gly818=) c.1527A>C (p.Gly509=) | |
20 | g.63406753C>A | CA409636762 | KCNQ2 | c.2564G>T (p.Gly855Val) c.2510G>T (p.Gly837Val) c.1907G>T (p.Gly636Val) c.2417G>T (p.Gly806Val) c.2078G>T (p.Gly693Val) c.2426G>T (p.Gly809Val) c.2241+293G>T (n.2241+293G>T) c.2205+293G>T (n.2205+293G>T) c.2456G>T (p.Gly819Val) c.2133+293G>T (n.2133+293G>T) c.1680-5910G>T (n.1680-5910G>T) c.2552G>T (p.Gly851Val) c.2618G>T (p.Gly873Val) c.2615G>T (p.Gly872Val) c.2588G>T (p.Gly863Val) c.2534G>T (p.Gly845Val) c.2507G>T (p.Gly836Val) c.2492G>T (p.Gly831Val) c.2099G>T (p.Gly700Val) c.2561G>T (p.Gly854Val) c.2498G>T (p.Gly833Val) c.2495G>T (p.Gly832Val) c.2453G>T (p.Gly818Val) c.1526G>T (p.Gly509Val) | gnomAD v4 |
20 | g.63406753C>G | CA409636760 | KCNQ2 | c.2564G>C (p.Gly855Ala) c.2510G>C (p.Gly837Ala) c.1907G>C (p.Gly636Ala) c.2417G>C (p.Gly806Ala) c.2078G>C (p.Gly693Ala) c.2426G>C (p.Gly809Ala) c.2241+293G>C (n.2241+293G>C) c.2205+293G>C (n.2205+293G>C) c.2456G>C (p.Gly819Ala) c.2133+293G>C (n.2133+293G>C) c.1680-5910G>C (n.1680-5910G>C) c.2552G>C (p.Gly851Ala) c.2618G>C (p.Gly873Ala) c.2615G>C (p.Gly872Ala) c.2588G>C (p.Gly863Ala) c.2534G>C (p.Gly845Ala) c.2507G>C (p.Gly836Ala) c.2492G>C (p.Gly831Ala) c.2099G>C (p.Gly700Ala) c.2561G>C (p.Gly854Ala) c.2498G>C (p.Gly833Ala) c.2495G>C (p.Gly832Ala) c.2453G>C (p.Gly818Ala) c.1526G>C (p.Gly509Ala) | |
20 | g.63406753C>T | CA409636763 | KCNQ2 | c.2564G>A (p.Gly855Glu) c.2510G>A (p.Gly837Glu) c.1907G>A (p.Gly636Glu) c.2417G>A (p.Gly806Glu) c.2078G>A (p.Gly693Glu) c.2426G>A (p.Gly809Glu) c.2241+293G>A (n.2241+293G>A) c.2205+293G>A (n.2205+293G>A) c.2456G>A (p.Gly819Glu) c.2133+293G>A (n.2133+293G>A) c.1680-5910G>A (n.1680-5910G>A) c.2552G>A (p.Gly851Glu) c.2618G>A (p.Gly873Glu) c.2615G>A (p.Gly872Glu) c.2588G>A (p.Gly863Glu) c.2534G>A (p.Gly845Glu) c.2507G>A (p.Gly836Glu) c.2492G>A (p.Gly831Glu) c.2099G>A (p.Gly700Glu) c.2561G>A (p.Gly854Glu) c.2498G>A (p.Gly833Glu) c.2495G>A (p.Gly832Glu) c.2453G>A (p.Gly818Glu) c.1526G>A (p.Gly509Glu) | gnomAD v4 |
20 | g.63406754C>A | CA409636766 | KCNQ2 | c.2563G>T (p.Gly855Ter) c.2509G>T (p.Gly837Ter) c.1906G>T (p.Gly636Ter) c.2416G>T (p.Gly806Ter) c.2077G>T (p.Gly693Ter) c.2425G>T (p.Gly809Ter) c.2241+292G>T (n.2241+292G>T) c.2205+292G>T (n.2205+292G>T) c.2455G>T (p.Gly819Ter) c.2133+292G>T (n.2133+292G>T) c.1680-5911G>T (n.1680-5911G>T) c.2551G>T (p.Gly851Ter) c.2617G>T (p.Gly873Ter) c.2614G>T (p.Gly872Ter) c.2587G>T (p.Gly863Ter) c.2533G>T (p.Gly845Ter) c.2506G>T (p.Gly836Ter) c.2491G>T (p.Gly831Ter) c.2098G>T (p.Gly700Ter) c.2560G>T (p.Gly854Ter) c.2497G>T (p.Gly833Ter) c.2494G>T (p.Gly832Ter) c.2452G>T (p.Gly818Ter) c.1525G>T (p.Gly509Ter) | |
20 | g.63406754C>G | CA409636768 | KCNQ2 | c.2563G>C (p.Gly855Arg) c.2509G>C (p.Gly837Arg) c.1906G>C (p.Gly636Arg) c.2416G>C (p.Gly806Arg) c.2077G>C (p.Gly693Arg) c.2425G>C (p.Gly809Arg) c.2241+292G>C (n.2241+292G>C) c.2205+292G>C (n.2205+292G>C) c.2455G>C (p.Gly819Arg) c.2133+292G>C (n.2133+292G>C) c.1680-5911G>C (n.1680-5911G>C) c.2551G>C (p.Gly851Arg) c.2617G>C (p.Gly873Arg) c.2614G>C (p.Gly872Arg) c.2587G>C (p.Gly863Arg) c.2533G>C (p.Gly845Arg) c.2506G>C (p.Gly836Arg) c.2491G>C (p.Gly831Arg) c.2098G>C (p.Gly700Arg) c.2560G>C (p.Gly854Arg) c.2497G>C (p.Gly833Arg) c.2494G>C (p.Gly832Arg) c.2452G>C (p.Gly818Arg) c.1525G>C (p.Gly509Arg) | |
20 | g.63406754C>T | CA409636770 | KCNQ2 | c.2563G>A (p.Gly855Arg) c.2509G>A (p.Gly837Arg) c.1906G>A (p.Gly636Arg) c.2416G>A (p.Gly806Arg) c.2077G>A (p.Gly693Arg) c.2425G>A (p.Gly809Arg) c.2241+292G>A (n.2241+292G>A) c.2205+292G>A (n.2205+292G>A) c.2455G>A (p.Gly819Arg) c.2133+292G>A (n.2133+292G>A) c.1680-5911G>A (n.1680-5911G>A) c.2551G>A (p.Gly851Arg) c.2617G>A (p.Gly873Arg) c.2614G>A (p.Gly872Arg) c.2587G>A (p.Gly863Arg) c.2533G>A (p.Gly845Arg) c.2506G>A (p.Gly836Arg) c.2491G>A (p.Gly831Arg) c.2098G>A (p.Gly700Arg) c.2560G>A (p.Gly854Arg) c.2497G>A (p.Gly833Arg) c.2494G>A (p.Gly832Arg) c.2452G>A (p.Gly818Arg) c.1525G>A (p.Gly509Arg) | |
20 | g.63406755C>A | CA409636772 | KCNQ2 | c.2562G>T (p.Glu854Asp) c.2508G>T (p.Glu836Asp) c.1905G>T (p.Glu635Asp) c.2415G>T (p.Glu805Asp) c.2076G>T (p.Glu692Asp) c.2424G>T (p.Glu808Asp) c.2241+291G>T (n.2241+291G>T) c.2205+291G>T (n.2205+291G>T) c.2454G>T (p.Glu818Asp) c.2133+291G>T (n.2133+291G>T) c.1680-5912G>T (n.1680-5912G>T) c.2550G>T (p.Glu850Asp) c.2616G>T (p.Glu872Asp) c.2613G>T (p.Glu871Asp) c.2586G>T (p.Glu862Asp) c.2532G>T (p.Glu844Asp) c.2505G>T (p.Glu835Asp) c.2490G>T (p.Glu830Asp) c.2097G>T (p.Glu699Asp) c.2559G>T (p.Glu853Asp) c.2496G>T (p.Glu832Asp) c.2493G>T (p.Glu831Asp) c.2451G>T (p.Glu817Asp) c.1524G>T (p.Glu508Asp) | |
20 | g.63406755C>G | CA409636774 | KCNQ2 | c.2562G>C (p.Glu854Asp) c.2508G>C (p.Glu836Asp) c.1905G>C (p.Glu635Asp) c.2415G>C (p.Glu805Asp) c.2076G>C (p.Glu692Asp) c.2424G>C (p.Glu808Asp) c.2241+291G>C (n.2241+291G>C) c.2205+291G>C (n.2205+291G>C) c.2454G>C (p.Glu818Asp) c.2133+291G>C (n.2133+291G>C) c.1680-5912G>C (n.1680-5912G>C) c.2550G>C (p.Glu850Asp) c.2616G>C (p.Glu872Asp) c.2613G>C (p.Glu871Asp) c.2586G>C (p.Glu862Asp) c.2532G>C (p.Glu844Asp) c.2505G>C (p.Glu835Asp) c.2490G>C (p.Glu830Asp) c.2097G>C (p.Glu699Asp) c.2559G>C (p.Glu853Asp) c.2496G>C (p.Glu832Asp) c.2493G>C (p.Glu831Asp) c.2451G>C (p.Glu817Asp) c.1524G>C (p.Glu508Asp) | |
20 | g.63406755C>T | CA511339235 | KCNQ2 | c.2562G>A (p.Glu854=) c.2508G>A (p.Glu836=) c.1905G>A (p.Glu635=) c.2415G>A (p.Glu805=) c.2076G>A (p.Glu692=) c.2424G>A (p.Glu808=) c.2241+291G>A (n.2241+291G>A) c.2205+291G>A (n.2205+291G>A) c.2454G>A (p.Glu818=) c.2133+291G>A (n.2133+291G>A) c.1680-5912G>A (n.1680-5912G>A) c.2550G>A (p.Glu850=) c.2616G>A (p.Glu872=) c.2613G>A (p.Glu871=) c.2586G>A (p.Glu862=) c.2532G>A (p.Glu844=) c.2505G>A (p.Glu835=) c.2490G>A (p.Glu830=) c.2097G>A (p.Glu699=) c.2559G>A (p.Glu853=) c.2496G>A (p.Glu832=) c.2493G>A (p.Glu831=) c.2451G>A (p.Glu817=) c.1524G>A (p.Glu508=) | gnomAD v4 |
20 | g.63406756T>A | CA409636776 | KCNQ2 | c.2561A>T (p.Glu854Val) c.2507A>T (p.Glu836Val) c.1904A>T (p.Glu635Val) c.2414A>T (p.Glu805Val) c.2075A>T (p.Glu692Val) c.2423A>T (p.Glu808Val) c.2241+290A>T (n.2241+290A>T) c.2205+290A>T (n.2205+290A>T) c.2453A>T (p.Glu818Val) c.2133+290A>T (n.2133+290A>T) c.1680-5913A>T (n.1680-5913A>T) c.2549A>T (p.Glu850Val) c.2615A>T (p.Glu872Val) c.2612A>T (p.Glu871Val) c.2585A>T (p.Glu862Val) c.2531A>T (p.Glu844Val) c.2504A>T (p.Glu835Val) c.2489A>T (p.Glu830Val) c.2096A>T (p.Glu699Val) c.2558A>T (p.Glu853Val) c.2495A>T (p.Glu832Val) c.2492A>T (p.Glu831Val) c.2450A>T (p.Glu817Val) c.1523A>T (p.Glu508Val) | |
20 | g.63406756T>C | CA409636778 | KCNQ2 | c.2561A>G (p.Glu854Gly) c.2507A>G (p.Glu836Gly) c.1904A>G (p.Glu635Gly) c.2414A>G (p.Glu805Gly) c.2075A>G (p.Glu692Gly) c.2423A>G (p.Glu808Gly) c.2241+290A>G (n.2241+290A>G) c.2205+290A>G (n.2205+290A>G) c.2453A>G (p.Glu818Gly) c.2133+290A>G (n.2133+290A>G) c.1680-5913A>G (n.1680-5913A>G) c.2549A>G (p.Glu850Gly) c.2615A>G (p.Glu872Gly) c.2612A>G (p.Glu871Gly) c.2585A>G (p.Glu862Gly) c.2531A>G (p.Glu844Gly) c.2504A>G (p.Glu835Gly) c.2489A>G (p.Glu830Gly) c.2096A>G (p.Glu699Gly) c.2558A>G (p.Glu853Gly) c.2495A>G (p.Glu832Gly) c.2492A>G (p.Glu831Gly) c.2450A>G (p.Glu817Gly) c.1523A>G (p.Glu508Gly) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406756T>G | CA409636779 | KCNQ2 | c.2561A>C (p.Glu854Ala) c.2507A>C (p.Glu836Ala) c.1904A>C (p.Glu635Ala) c.2414A>C (p.Glu805Ala) c.2075A>C (p.Glu692Ala) c.2423A>C (p.Glu808Ala) c.2241+290A>C (n.2241+290A>C) c.2205+290A>C (n.2205+290A>C) c.2453A>C (p.Glu818Ala) c.2133+290A>C (n.2133+290A>C) c.1680-5913A>C (n.1680-5913A>C) c.2549A>C (p.Glu850Ala) c.2615A>C (p.Glu872Ala) c.2612A>C (p.Glu871Ala) c.2585A>C (p.Glu862Ala) c.2531A>C (p.Glu844Ala) c.2504A>C (p.Glu835Ala) c.2489A>C (p.Glu830Ala) c.2096A>C (p.Glu699Ala) c.2558A>C (p.Glu853Ala) c.2495A>C (p.Glu832Ala) c.2492A>C (p.Glu831Ala) c.2450A>C (p.Glu817Ala) c.1523A>C (p.Glu508Ala) | |
20 | g.63406756T= | CA2374774231 | KCNQ2 | c.2561A= (p.Glu854=) c.2507A= (p.Glu836=) c.1904A= (p.Glu635=) c.2414A= (p.Glu805=) c.2075A= (p.Glu692=) c.2423A= (p.Glu808=) c.2241+290A= (n.2241+290A=) c.2205+290A= (n.2205+290A=) c.2453A= (p.Glu818=) c.2133+290A= (n.2133+290A=) c.1680-5913A= (n.1680-5913A=) c.2549A= (p.Glu850=) c.2615A= (p.Glu872=) c.2612A= (p.Glu871=) c.2585A= (p.Glu862=) c.2531A= (p.Glu844=) c.2504A= (p.Glu835=) c.2489A= (p.Glu830=) c.2096A= (p.Glu699=) c.2558A= (p.Glu853=) c.2495A= (p.Glu832=) c.2492A= (p.Glu831=) c.2450A= (p.Glu817=) c.1523A= (p.Glu508=) | |
20 | g.63406757C>A | CA409636782 | KCNQ2 | c.2560G>T (p.Glu854Ter) c.2506G>T (p.Glu836Ter) c.1903G>T (p.Glu635Ter) c.2413G>T (p.Glu805Ter) c.2074G>T (p.Glu692Ter) c.2422G>T (p.Glu808Ter) c.2241+289G>T (n.2241+289G>T) c.2205+289G>T (n.2205+289G>T) c.2452G>T (p.Glu818Ter) c.2133+289G>T (n.2133+289G>T) c.1680-5914G>T (n.1680-5914G>T) c.2548G>T (p.Glu850Ter) c.2614G>T (p.Glu872Ter) c.2611G>T (p.Glu871Ter) c.2584G>T (p.Glu862Ter) c.2530G>T (p.Glu844Ter) c.2503G>T (p.Glu835Ter) c.2488G>T (p.Glu830Ter) c.2095G>T (p.Glu699Ter) c.2557G>T (p.Glu853Ter) c.2494G>T (p.Glu832Ter) c.2491G>T (p.Glu831Ter) c.2449G>T (p.Glu817Ter) c.1522G>T (p.Glu508Ter) | |
20 | g.63406757C>G | CA409636784 | KCNQ2 | c.2560G>C (p.Glu854Gln) c.2506G>C (p.Glu836Gln) c.1903G>C (p.Glu635Gln) c.2413G>C (p.Glu805Gln) c.2074G>C (p.Glu692Gln) c.2422G>C (p.Glu808Gln) c.2241+289G>C (n.2241+289G>C) c.2205+289G>C (n.2205+289G>C) c.2452G>C (p.Glu818Gln) c.2133+289G>C (n.2133+289G>C) c.1680-5914G>C (n.1680-5914G>C) c.2548G>C (p.Glu850Gln) c.2614G>C (p.Glu872Gln) c.2611G>C (p.Glu871Gln) c.2584G>C (p.Glu862Gln) c.2530G>C (p.Glu844Gln) c.2503G>C (p.Glu835Gln) c.2488G>C (p.Glu830Gln) c.2095G>C (p.Glu699Gln) c.2557G>C (p.Glu853Gln) c.2494G>C (p.Glu832Gln) c.2491G>C (p.Glu831Gln) c.2449G>C (p.Glu817Gln) c.1522G>C (p.Glu508Gln) | ClinVar gnomAD v4 |
20 | g.63406757C>T | CA409636786 | KCNQ2 | c.2560G>A (p.Glu854Lys) c.2506G>A (p.Glu836Lys) c.1903G>A (p.Glu635Lys) c.2413G>A (p.Glu805Lys) c.2074G>A (p.Glu692Lys) c.2422G>A (p.Glu808Lys) c.2241+289G>A (n.2241+289G>A) c.2205+289G>A (n.2205+289G>A) c.2452G>A (p.Glu818Lys) c.2133+289G>A (n.2133+289G>A) c.1680-5914G>A (n.1680-5914G>A) c.2548G>A (p.Glu850Lys) c.2614G>A (p.Glu872Lys) c.2611G>A (p.Glu871Lys) c.2584G>A (p.Glu862Lys) c.2530G>A (p.Glu844Lys) c.2503G>A (p.Glu835Lys) c.2488G>A (p.Glu830Lys) c.2095G>A (p.Glu699Lys) c.2557G>A (p.Glu853Lys) c.2494G>A (p.Glu832Lys) c.2491G>A (p.Glu831Lys) c.2449G>A (p.Glu817Lys) c.1522G>A (p.Glu508Lys) | gnomAD v4 |
20 | g.63406758C>A | CA511339238 | KCNQ2 | c.2559G>T (p.Ala853=) c.2505G>T (p.Ala835=) c.1902G>T (p.Ala634=) c.2412G>T (p.Ala804=) c.2073G>T (p.Ala691=) c.2421G>T (p.Ala807=) c.2241+288G>T (n.2241+288G>T) c.2205+288G>T (n.2205+288G>T) c.2451G>T (p.Ala817=) c.2133+288G>T (n.2133+288G>T) c.1680-5915G>T (n.1680-5915G>T) c.2547G>T (p.Ala849=) c.2613G>T (p.Ala871=) c.2610G>T (p.Ala870=) c.2583G>T (p.Ala861=) c.2529G>T (p.Ala843=) c.2502G>T (p.Ala834=) c.2487G>T (p.Ala829=) c.2094G>T (p.Ala698=) c.2556G>T (p.Ala852=) c.2493G>T (p.Ala831=) c.2490G>T (p.Ala830=) c.2448G>T (p.Ala816=) c.1521G>T (p.Ala507=) | dbSNP gnomAD v4 |
20 | g.63406758C= | CA2374774232 | KCNQ2 | c.2559G= (p.Ala853=) c.2505G= (p.Ala835=) c.1902G= (p.Ala634=) c.2412G= (p.Ala804=) c.2073G= (p.Ala691=) c.2421G= (p.Ala807=) c.2241+288G= (n.2241+288G=) c.2205+288G= (n.2205+288G=) c.2451G= (p.Ala817=) c.2133+288G= (n.2133+288G=) c.1680-5915G= (n.1680-5915G=) c.2547G= (p.Ala849=) c.2613G= (p.Ala871=) c.2610G= (p.Ala870=) c.2583G= (p.Ala861=) c.2529G= (p.Ala843=) c.2502G= (p.Ala834=) c.2487G= (p.Ala829=) c.2094G= (p.Ala698=) c.2556G= (p.Ala852=) c.2493G= (p.Ala831=) c.2490G= (p.Ala830=) c.2448G= (p.Ala816=) c.1521G= (p.Ala507=) | |
20 | g.63406758C>G | CA511339237 | KCNQ2 | c.2559G>C (p.Ala853=) c.2505G>C (p.Ala835=) c.1902G>C (p.Ala634=) c.2412G>C (p.Ala804=) c.2073G>C (p.Ala691=) c.2421G>C (p.Ala807=) c.2241+288G>C (n.2241+288G>C) c.2205+288G>C (n.2205+288G>C) c.2451G>C (p.Ala817=) c.2133+288G>C (n.2133+288G>C) c.1680-5915G>C (n.1680-5915G>C) c.2547G>C (p.Ala849=) c.2613G>C (p.Ala871=) c.2610G>C (p.Ala870=) c.2583G>C (p.Ala861=) c.2529G>C (p.Ala843=) c.2502G>C (p.Ala834=) c.2487G>C (p.Ala829=) c.2094G>C (p.Ala698=) c.2556G>C (p.Ala852=) c.2493G>C (p.Ala831=) c.2490G>C (p.Ala830=) c.2448G>C (p.Ala816=) c.1521G>C (p.Ala507=) | ClinVar dbSNP gnomAD v4 |
20 | g.63406758C>T | CA9958066 | KCNQ2 | c.2559G>A (p.Ala853=) c.2505G>A (p.Ala835=) c.1902G>A (p.Ala634=) c.2412G>A (p.Ala804=) c.2073G>A (p.Ala691=) c.2421G>A (p.Ala807=) c.2241+288G>A (n.2241+288G>A) c.2205+288G>A (n.2205+288G>A) c.2451G>A (p.Ala817=) c.2133+288G>A (n.2133+288G>A) c.1680-5915G>A (n.1680-5915G>A) c.2547G>A (p.Ala849=) c.2613G>A (p.Ala871=) c.2610G>A (p.Ala870=) c.2583G>A (p.Ala861=) c.2529G>A (p.Ala843=) c.2502G>A (p.Ala834=) c.2487G>A (p.Ala829=) c.2094G>A (p.Ala698=) c.2556G>A (p.Ala852=) c.2493G>A (p.Ala831=) c.2490G>A (p.Ala830=) c.2448G>A (p.Ala816=) c.1521G>A (p.Ala507=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406759G>A | CA9958067 | KCNQ2 | c.2558C>T (p.Ala853Val) c.2504C>T (p.Ala835Val) c.1901C>T (p.Ala634Val) c.2411C>T (p.Ala804Val) c.2072C>T (p.Ala691Val) c.2420C>T (p.Ala807Val) c.2241+287C>T (n.2241+287C>T) c.2205+287C>T (n.2205+287C>T) c.2450C>T (p.Ala817Val) c.2133+287C>T (n.2133+287C>T) c.1680-5916C>T (n.1680-5916C>T) c.2546C>T (p.Ala849Val) c.2612C>T (p.Ala871Val) c.2609C>T (p.Ala870Val) c.2582C>T (p.Ala861Val) c.2528C>T (p.Ala843Val) c.2501C>T (p.Ala834Val) c.2486C>T (p.Ala829Val) c.2093C>T (p.Ala698Val) c.2555C>T (p.Ala852Val) c.2492C>T (p.Ala831Val) c.2489C>T (p.Ala830Val) c.2447C>T (p.Ala816Val) c.1520C>T (p.Ala507Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406759G>C | CA409636791 | KCNQ2 | c.2558C>G (p.Ala853Gly) c.2504C>G (p.Ala835Gly) c.1901C>G (p.Ala634Gly) c.2411C>G (p.Ala804Gly) c.2072C>G (p.Ala691Gly) c.2420C>G (p.Ala807Gly) c.2241+287C>G (n.2241+287C>G) c.2205+287C>G (n.2205+287C>G) c.2450C>G (p.Ala817Gly) c.2133+287C>G (n.2133+287C>G) c.1680-5916C>G (n.1680-5916C>G) c.2546C>G (p.Ala849Gly) c.2612C>G (p.Ala871Gly) c.2609C>G (p.Ala870Gly) c.2582C>G (p.Ala861Gly) c.2528C>G (p.Ala843Gly) c.2501C>G (p.Ala834Gly) c.2486C>G (p.Ala829Gly) c.2093C>G (p.Ala698Gly) c.2555C>G (p.Ala852Gly) c.2492C>G (p.Ala831Gly) c.2489C>G (p.Ala830Gly) c.2447C>G (p.Ala816Gly) c.1520C>G (p.Ala507Gly) | |
20 | g.63406759G= | CA2374774233 | KCNQ2 | c.2558C= (p.Ala853=) c.2504C= (p.Ala835=) c.1901C= (p.Ala634=) c.2411C= (p.Ala804=) c.2072C= (p.Ala691=) c.2420C= (p.Ala807=) c.2241+287C= (n.2241+287C=) c.2205+287C= (n.2205+287C=) c.2450C= (p.Ala817=) c.2133+287C= (n.2133+287C=) c.1680-5916C= (n.1680-5916C=) c.2546C= (p.Ala849=) c.2612C= (p.Ala871=) c.2609C= (p.Ala870=) c.2582C= (p.Ala861=) c.2528C= (p.Ala843=) c.2501C= (p.Ala834=) c.2486C= (p.Ala829=) c.2093C= (p.Ala698=) c.2555C= (p.Ala852=) c.2492C= (p.Ala831=) c.2489C= (p.Ala830=) c.2447C= (p.Ala816=) c.1520C= (p.Ala507=) | |
20 | g.63406759G>T | CA409636789 | KCNQ2 | c.2558C>A (p.Ala853Glu) c.2504C>A (p.Ala835Glu) c.1901C>A (p.Ala634Glu) c.2411C>A (p.Ala804Glu) c.2072C>A (p.Ala691Glu) c.2420C>A (p.Ala807Glu) c.2241+287C>A (n.2241+287C>A) c.2205+287C>A (n.2205+287C>A) c.2450C>A (p.Ala817Glu) c.2133+287C>A (n.2133+287C>A) c.1680-5916C>A (n.1680-5916C>A) c.2546C>A (p.Ala849Glu) c.2612C>A (p.Ala871Glu) c.2609C>A (p.Ala870Glu) c.2582C>A (p.Ala861Glu) c.2528C>A (p.Ala843Glu) c.2501C>A (p.Ala834Glu) c.2486C>A (p.Ala829Glu) c.2093C>A (p.Ala698Glu) c.2555C>A (p.Ala852Glu) c.2492C>A (p.Ala831Glu) c.2489C>A (p.Ala830Glu) c.2447C>A (p.Ala816Glu) c.1520C>A (p.Ala507Glu) | |
20 | g.63406760C>A | CA409636795 | KCNQ2 | c.2557G>T (p.Ala853Ser) c.2503G>T (p.Ala835Ser) c.1900G>T (p.Ala634Ser) c.2410G>T (p.Ala804Ser) c.2071G>T (p.Ala691Ser) c.2419G>T (p.Ala807Ser) c.2241+286G>T (n.2241+286G>T) c.2205+286G>T (n.2205+286G>T) c.2449G>T (p.Ala817Ser) c.2133+286G>T (n.2133+286G>T) c.1680-5917G>T (n.1680-5917G>T) c.2545G>T (p.Ala849Ser) c.2611G>T (p.Ala871Ser) c.2608G>T (p.Ala870Ser) c.2581G>T (p.Ala861Ser) c.2527G>T (p.Ala843Ser) c.2500G>T (p.Ala834Ser) c.2485G>T (p.Ala829Ser) c.2092G>T (p.Ala698Ser) c.2554G>T (p.Ala852Ser) c.2491G>T (p.Ala831Ser) c.2488G>T (p.Ala830Ser) c.2446G>T (p.Ala816Ser) c.1519G>T (p.Ala507Ser) | |
20 | g.63406760C>G | CA409636796 | KCNQ2 | c.2557G>C (p.Ala853Pro) c.2503G>C (p.Ala835Pro) c.1900G>C (p.Ala634Pro) c.2410G>C (p.Ala804Pro) c.2071G>C (p.Ala691Pro) c.2419G>C (p.Ala807Pro) c.2241+286G>C (n.2241+286G>C) c.2205+286G>C (n.2205+286G>C) c.2449G>C (p.Ala817Pro) c.2133+286G>C (n.2133+286G>C) c.1680-5917G>C (n.1680-5917G>C) c.2545G>C (p.Ala849Pro) c.2611G>C (p.Ala871Pro) c.2608G>C (p.Ala870Pro) c.2581G>C (p.Ala861Pro) c.2527G>C (p.Ala843Pro) c.2500G>C (p.Ala834Pro) c.2485G>C (p.Ala829Pro) c.2092G>C (p.Ala698Pro) c.2554G>C (p.Ala852Pro) c.2491G>C (p.Ala831Pro) c.2488G>C (p.Ala830Pro) c.2446G>C (p.Ala816Pro) c.1519G>C (p.Ala507Pro) | |
20 | g.63406760C>T | CA409636797 | KCNQ2 | c.2557G>A (p.Ala853Thr) c.2503G>A (p.Ala835Thr) c.1900G>A (p.Ala634Thr) c.2410G>A (p.Ala804Thr) c.2071G>A (p.Ala691Thr) c.2419G>A (p.Ala807Thr) c.2241+286G>A (n.2241+286G>A) c.2205+286G>A (n.2205+286G>A) c.2449G>A (p.Ala817Thr) c.2133+286G>A (n.2133+286G>A) c.1680-5917G>A (n.1680-5917G>A) c.2545G>A (p.Ala849Thr) c.2611G>A (p.Ala871Thr) c.2608G>A (p.Ala870Thr) c.2581G>A (p.Ala861Thr) c.2527G>A (p.Ala843Thr) c.2500G>A (p.Ala834Thr) c.2485G>A (p.Ala829Thr) c.2092G>A (p.Ala698Thr) c.2554G>A (p.Ala852Thr) c.2491G>A (p.Ala831Thr) c.2488G>A (p.Ala830Thr) c.2446G>A (p.Ala816Thr) c.1519G>A (p.Ala507Thr) | |
20 | g.63406761A>C | CA409636800 | KCNQ2 | c.2556T>G (p.Ile852Met) c.2502T>G (p.Ile834Met) c.1899T>G (p.Ile633Met) c.2409T>G (p.Ile803Met) c.2070T>G (p.Ile690Met) c.2418T>G (p.Ile806Met) c.2241+285T>G (n.2241+285T>G) c.2205+285T>G (n.2205+285T>G) c.2448T>G (p.Ile816Met) c.2133+285T>G (n.2133+285T>G) c.1680-5918T>G (n.1680-5918T>G) c.2544T>G (p.Ile848Met) c.2610T>G (p.Ile870Met) c.2607T>G (p.Ile869Met) c.2580T>G (p.Ile860Met) c.2526T>G (p.Ile842Met) c.2499T>G (p.Ile833Met) c.2484T>G (p.Ile828Met) c.2091T>G (p.Ile697Met) c.2553T>G (p.Ile851Met) c.2490T>G (p.Ile830Met) c.2487T>G (p.Ile829Met) c.2445T>G (p.Ile815Met) c.1518T>G (p.Ile506Met) | |
20 | g.63406761A>G | CA511339245 | KCNQ2 | c.2556T>C (p.Ile852=) c.2502T>C (p.Ile834=) c.1899T>C (p.Ile633=) c.2409T>C (p.Ile803=) c.2070T>C (p.Ile690=) c.2418T>C (p.Ile806=) c.2241+285T>C (n.2241+285T>C) c.2205+285T>C (n.2205+285T>C) c.2448T>C (p.Ile816=) c.2133+285T>C (n.2133+285T>C) c.1680-5918T>C (n.1680-5918T>C) c.2544T>C (p.Ile848=) c.2610T>C (p.Ile870=) c.2607T>C (p.Ile869=) c.2580T>C (p.Ile860=) c.2526T>C (p.Ile842=) c.2499T>C (p.Ile833=) c.2484T>C (p.Ile828=) c.2091T>C (p.Ile697=) c.2553T>C (p.Ile851=) c.2490T>C (p.Ile830=) c.2487T>C (p.Ile829=) c.2445T>C (p.Ile815=) c.1518T>C (p.Ile506=) | dbSNP gnomAD v4 |
20 | g.63406761A>T | CA511339242 | KCNQ2 | c.2556T>A (p.Ile852=) c.2502T>A (p.Ile834=) c.1899T>A (p.Ile633=) c.2409T>A (p.Ile803=) c.2070T>A (p.Ile690=) c.2418T>A (p.Ile806=) c.2241+285T>A (n.2241+285T>A) c.2205+285T>A (n.2205+285T>A) c.2448T>A (p.Ile816=) c.2133+285T>A (n.2133+285T>A) c.1680-5918T>A (n.1680-5918T>A) c.2544T>A (p.Ile848=) c.2610T>A (p.Ile870=) c.2607T>A (p.Ile869=) c.2580T>A (p.Ile860=) c.2526T>A (p.Ile842=) c.2499T>A (p.Ile833=) c.2484T>A (p.Ile828=) c.2091T>A (p.Ile697=) c.2553T>A (p.Ile851=) c.2490T>A (p.Ile830=) c.2487T>A (p.Ile829=) c.2445T>A (p.Ile815=) c.1518T>A (p.Ile506=) | |
20 | g.63406762A>C | CA409636802 | KCNQ2 | c.2555T>G (p.Ile852Ser) c.2501T>G (p.Ile834Ser) c.1898T>G (p.Ile633Ser) c.2408T>G (p.Ile803Ser) c.2069T>G (p.Ile690Ser) c.2417T>G (p.Ile806Ser) c.2241+284T>G (n.2241+284T>G) c.2205+284T>G (n.2205+284T>G) c.2447T>G (p.Ile816Ser) c.2133+284T>G (n.2133+284T>G) c.1680-5919T>G (n.1680-5919T>G) c.2543T>G (p.Ile848Ser) c.2609T>G (p.Ile870Ser) c.2606T>G (p.Ile869Ser) c.2579T>G (p.Ile860Ser) c.2525T>G (p.Ile842Ser) c.2498T>G (p.Ile833Ser) c.2483T>G (p.Ile828Ser) c.2090T>G (p.Ile697Ser) c.2552T>G (p.Ile851Ser) c.2489T>G (p.Ile830Ser) c.2486T>G (p.Ile829Ser) c.2444T>G (p.Ile815Ser) c.1517T>G (p.Ile506Ser) | |
20 | g.63406762A>G | CA409636804 | KCNQ2 | c.2555T>C (p.Ile852Thr) c.2501T>C (p.Ile834Thr) c.1898T>C (p.Ile633Thr) c.2408T>C (p.Ile803Thr) c.2069T>C (p.Ile690Thr) c.2417T>C (p.Ile806Thr) c.2241+284T>C (n.2241+284T>C) c.2205+284T>C (n.2205+284T>C) c.2447T>C (p.Ile816Thr) c.2133+284T>C (n.2133+284T>C) c.1680-5919T>C (n.1680-5919T>C) c.2543T>C (p.Ile848Thr) c.2609T>C (p.Ile870Thr) c.2606T>C (p.Ile869Thr) c.2579T>C (p.Ile860Thr) c.2525T>C (p.Ile842Thr) c.2498T>C (p.Ile833Thr) c.2483T>C (p.Ile828Thr) c.2090T>C (p.Ile697Thr) c.2552T>C (p.Ile851Thr) c.2489T>C (p.Ile830Thr) c.2486T>C (p.Ile829Thr) c.2444T>C (p.Ile815Thr) c.1517T>C (p.Ile506Thr) | gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63406762A>T | CA409636805 | KCNQ2 | c.2555T>A (p.Ile852Asn) c.2501T>A (p.Ile834Asn) c.1898T>A (p.Ile633Asn) c.2408T>A (p.Ile803Asn) c.2069T>A (p.Ile690Asn) c.2417T>A (p.Ile806Asn) c.2241+284T>A (n.2241+284T>A) c.2205+284T>A (n.2205+284T>A) c.2447T>A (p.Ile816Asn) c.2133+284T>A (n.2133+284T>A) c.1680-5919T>A (n.1680-5919T>A) c.2543T>A (p.Ile848Asn) c.2609T>A (p.Ile870Asn) c.2606T>A (p.Ile869Asn) c.2579T>A (p.Ile860Asn) c.2525T>A (p.Ile842Asn) c.2498T>A (p.Ile833Asn) c.2483T>A (p.Ile828Asn) c.2090T>A (p.Ile697Asn) c.2552T>A (p.Ile851Asn) c.2489T>A (p.Ile830Asn) c.2486T>A (p.Ile829Asn) c.2444T>A (p.Ile815Asn) c.1517T>A (p.Ile506Asn) | |
20 | g.63406763T>A | CA409636808 | KCNQ2 | c.2554A>T (p.Ile852Phe) c.2500A>T (p.Ile834Phe) c.1897A>T (p.Ile633Phe) c.2407A>T (p.Ile803Phe) c.2068A>T (p.Ile690Phe) c.2416A>T (p.Ile806Phe) c.2241+283A>T (n.2241+283A>T) c.2205+283A>T (n.2205+283A>T) c.2446A>T (p.Ile816Phe) c.2133+283A>T (n.2133+283A>T) c.1680-5920A>T (n.1680-5920A>T) c.2542A>T (p.Ile848Phe) c.2608A>T (p.Ile870Phe) c.2605A>T (p.Ile869Phe) c.2578A>T (p.Ile860Phe) c.2524A>T (p.Ile842Phe) c.2497A>T (p.Ile833Phe) c.2482A>T (p.Ile828Phe) c.2089A>T (p.Ile697Phe) c.2551A>T (p.Ile851Phe) c.2488A>T (p.Ile830Phe) c.2485A>T (p.Ile829Phe) c.2443A>T (p.Ile815Phe) c.1516A>T (p.Ile506Phe) | |
20 | g.63406763T>C | CA409636810 | KCNQ2 | c.2554A>G (p.Ile852Val) c.2500A>G (p.Ile834Val) c.1897A>G (p.Ile633Val) c.2407A>G (p.Ile803Val) c.2068A>G (p.Ile690Val) c.2416A>G (p.Ile806Val) c.2241+283A>G (n.2241+283A>G) c.2205+283A>G (n.2205+283A>G) c.2446A>G (p.Ile816Val) c.2133+283A>G (n.2133+283A>G) c.1680-5920A>G (n.1680-5920A>G) c.2542A>G (p.Ile848Val) c.2608A>G (p.Ile870Val) c.2605A>G (p.Ile869Val) c.2578A>G (p.Ile860Val) c.2524A>G (p.Ile842Val) c.2497A>G (p.Ile833Val) c.2482A>G (p.Ile828Val) c.2089A>G (p.Ile697Val) c.2551A>G (p.Ile851Val) c.2488A>G (p.Ile830Val) c.2485A>G (p.Ile829Val) c.2443A>G (p.Ile815Val) c.1516A>G (p.Ile506Val) | ClinVar dbSNP gnomAD v4 |
20 | g.63406763T>G | CA409636812 | KCNQ2 | c.2554A>C (p.Ile852Leu) c.2500A>C (p.Ile834Leu) c.1897A>C (p.Ile633Leu) c.2407A>C (p.Ile803Leu) c.2068A>C (p.Ile690Leu) c.2416A>C (p.Ile806Leu) c.2241+283A>C (n.2241+283A>C) c.2205+283A>C (n.2205+283A>C) c.2446A>C (p.Ile816Leu) c.2133+283A>C (n.2133+283A>C) c.1680-5920A>C (n.1680-5920A>C) c.2542A>C (p.Ile848Leu) c.2608A>C (p.Ile870Leu) c.2605A>C (p.Ile869Leu) c.2578A>C (p.Ile860Leu) c.2524A>C (p.Ile842Leu) c.2497A>C (p.Ile833Leu) c.2482A>C (p.Ile828Leu) c.2089A>C (p.Ile697Leu) c.2551A>C (p.Ile851Leu) c.2488A>C (p.Ile830Leu) c.2485A>C (p.Ile829Leu) c.2443A>C (p.Ile815Leu) c.1516A>C (p.Ile506Leu) | |
20 | g.63406763T= | CA2374774234 | KCNQ2 | c.2554A= (p.Ile852=) c.2500A= (p.Ile834=) c.1897A= (p.Ile633=) c.2407A= (p.Ile803=) c.2068A= (p.Ile690=) c.2416A= (p.Ile806=) c.2241+283A= (n.2241+283A=) c.2205+283A= (n.2205+283A=) c.2446A= (p.Ile816=) c.2133+283A= (n.2133+283A=) c.1680-5920A= (n.1680-5920A=) c.2542A= (p.Ile848=) c.2608A= (p.Ile870=) c.2605A= (p.Ile869=) c.2578A= (p.Ile860=) c.2524A= (p.Ile842=) c.2497A= (p.Ile833=) c.2482A= (p.Ile828=) c.2089A= (p.Ile697=) c.2551A= (p.Ile851=) c.2488A= (p.Ile830=) c.2485A= (p.Ile829=) c.2443A= (p.Ile815=) c.1516A= (p.Ile506=) | |
20 | g.63406764del | CA2653804728 | KCNQ2 | c.2553del (p.Tyr851Ter) c.2499del (p.Tyr833Ter) c.1896del (p.Tyr632Ter) c.2406del (p.Tyr802Ter) c.2067del (p.Tyr689Ter) c.2415del (p.Tyr805Ter) c.2241+282del (n.2241+282del) c.2205+282del (n.2205+282del) c.2445del (p.Tyr815Ter) c.2133+282del (n.2133+282del) c.1680-5921del (n.1680-5921del) c.2541del (p.Tyr847Ter) c.2607del (p.Tyr869Ter) c.2604del (p.Tyr868Ter) c.2577del (p.Tyr859Ter) c.2523del (p.Tyr841Ter) c.2496del (p.Tyr832Ter) c.2481del (p.Tyr827Ter) c.2088del (p.Tyr696Ter) c.2550del (p.Tyr850Ter) c.2487del (p.Tyr829Ter) c.2484del (p.Tyr828Ter) c.2442del (p.Tyr814Ter) c.1515del (p.Tyr505Ter) | gnomAD v4 |
20 | g.63406764G>A | CA511339249 | KCNQ2 | c.2553C>T (p.Tyr851=) c.2499C>T (p.Tyr833=) c.1896C>T (p.Tyr632=) c.2406C>T (p.Tyr802=) c.2067C>T (p.Tyr689=) c.2415C>T (p.Tyr805=) c.2241+282C>T (n.2241+282C>T) c.2205+282C>T (n.2205+282C>T) c.2445C>T (p.Tyr815=) c.2133+282C>T (n.2133+282C>T) c.1680-5921C>T (n.1680-5921C>T) c.2541C>T (p.Tyr847=) c.2607C>T (p.Tyr869=) c.2604C>T (p.Tyr868=) c.2577C>T (p.Tyr859=) c.2523C>T (p.Tyr841=) c.2496C>T (p.Tyr832=) c.2481C>T (p.Tyr827=) c.2088C>T (p.Tyr696=) c.2550C>T (p.Tyr850=) c.2487C>T (p.Tyr829=) c.2484C>T (p.Tyr828=) c.2442C>T (p.Tyr814=) c.1515C>T (p.Tyr505=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63406764G>C | CA409636815 | KCNQ2 | c.2553C>G (p.Tyr851Ter) c.2499C>G (p.Tyr833Ter) c.1896C>G (p.Tyr632Ter) c.2406C>G (p.Tyr802Ter) c.2067C>G (p.Tyr689Ter) c.2415C>G (p.Tyr805Ter) c.2241+282C>G (n.2241+282C>G) c.2205+282C>G (n.2205+282C>G) c.2445C>G (p.Tyr815Ter) c.2133+282C>G (n.2133+282C>G) c.1680-5921C>G (n.1680-5921C>G) c.2541C>G (p.Tyr847Ter) c.2607C>G (p.Tyr869Ter) c.2604C>G (p.Tyr868Ter) c.2577C>G (p.Tyr859Ter) c.2523C>G (p.Tyr841Ter) c.2496C>G (p.Tyr832Ter) c.2481C>G (p.Tyr827Ter) c.2088C>G (p.Tyr696Ter) c.2550C>G (p.Tyr850Ter) c.2487C>G (p.Tyr829Ter) c.2484C>G (p.Tyr828Ter) c.2442C>G (p.Tyr814Ter) c.1515C>G (p.Tyr505Ter) | |
20 | g.63406764G= | CA2374774235 | KCNQ2 | c.2553C= (p.Tyr851=) c.2499C= (p.Tyr833=) c.1896C= (p.Tyr632=) c.2406C= (p.Tyr802=) c.2067C= (p.Tyr689=) c.2415C= (p.Tyr805=) c.2241+282C= (n.2241+282C=) c.2205+282C= (n.2205+282C=) c.2445C= (p.Tyr815=) c.2133+282C= (n.2133+282C=) c.1680-5921C= (n.1680-5921C=) c.2541C= (p.Tyr847=) c.2607C= (p.Tyr869=) c.2604C= (p.Tyr868=) c.2577C= (p.Tyr859=) c.2523C= (p.Tyr841=) c.2496C= (p.Tyr832=) c.2481C= (p.Tyr827=) c.2088C= (p.Tyr696=) c.2550C= (p.Tyr850=) c.2487C= (p.Tyr829=) c.2484C= (p.Tyr828=) c.2442C= (p.Tyr814=) c.1515C= (p.Tyr505=) | |
20 | g.63406764G>T | CA409636816 | KCNQ2 | c.2553C>A (p.Tyr851Ter) c.2499C>A (p.Tyr833Ter) c.1896C>A (p.Tyr632Ter) c.2406C>A (p.Tyr802Ter) c.2067C>A (p.Tyr689Ter) c.2415C>A (p.Tyr805Ter) c.2241+282C>A (n.2241+282C>A) c.2205+282C>A (n.2205+282C>A) c.2445C>A (p.Tyr815Ter) c.2133+282C>A (n.2133+282C>A) c.1680-5921C>A (n.1680-5921C>A) c.2541C>A (p.Tyr847Ter) c.2607C>A (p.Tyr869Ter) c.2604C>A (p.Tyr868Ter) c.2577C>A (p.Tyr859Ter) c.2523C>A (p.Tyr841Ter) c.2496C>A (p.Tyr832Ter) c.2481C>A (p.Tyr827Ter) c.2088C>A (p.Tyr696Ter) c.2550C>A (p.Tyr850Ter) c.2487C>A (p.Tyr829Ter) c.2484C>A (p.Tyr828Ter) c.2442C>A (p.Tyr814Ter) c.1515C>A (p.Tyr505Ter) | |
20 | g.63406765T>A | CA409636822 | KCNQ2 | c.2552A>T (p.Tyr851Phe) c.2498A>T (p.Tyr833Phe) c.1895A>T (p.Tyr632Phe) c.2405A>T (p.Tyr802Phe) c.2066A>T (p.Tyr689Phe) c.2414A>T (p.Tyr805Phe) c.2241+281A>T (n.2241+281A>T) c.2205+281A>T (n.2205+281A>T) c.2444A>T (p.Tyr815Phe) c.2133+281A>T (n.2133+281A>T) c.1680-5922A>T (n.1680-5922A>T) c.2540A>T (p.Tyr847Phe) c.2606A>T (p.Tyr869Phe) c.2603A>T (p.Tyr868Phe) c.2576A>T (p.Tyr859Phe) c.2522A>T (p.Tyr841Phe) c.2495A>T (p.Tyr832Phe) c.2480A>T (p.Tyr827Phe) c.2087A>T (p.Tyr696Phe) c.2549A>T (p.Tyr850Phe) c.2486A>T (p.Tyr829Phe) c.2483A>T (p.Tyr828Phe) c.2441A>T (p.Tyr814Phe) c.1514A>T (p.Tyr505Phe) | |
20 | g.63406765T>C | CA409636820 | KCNQ2 | c.2552A>G (p.Tyr851Cys) c.2498A>G (p.Tyr833Cys) c.1895A>G (p.Tyr632Cys) c.2405A>G (p.Tyr802Cys) c.2066A>G (p.Tyr689Cys) c.2414A>G (p.Tyr805Cys) c.2241+281A>G (n.2241+281A>G) c.2205+281A>G (n.2205+281A>G) c.2444A>G (p.Tyr815Cys) c.2133+281A>G (n.2133+281A>G) c.1680-5922A>G (n.1680-5922A>G) c.2540A>G (p.Tyr847Cys) c.2606A>G (p.Tyr869Cys) c.2603A>G (p.Tyr868Cys) c.2576A>G (p.Tyr859Cys) c.2522A>G (p.Tyr841Cys) c.2495A>G (p.Tyr832Cys) c.2480A>G (p.Tyr827Cys) c.2087A>G (p.Tyr696Cys) c.2549A>G (p.Tyr850Cys) c.2486A>G (p.Tyr829Cys) c.2483A>G (p.Tyr828Cys) c.2441A>G (p.Tyr814Cys) c.1514A>G (p.Tyr505Cys) | |
20 | g.63406765T>G | CA409636818 | KCNQ2 | c.2552A>C (p.Tyr851Ser) c.2498A>C (p.Tyr833Ser) c.1895A>C (p.Tyr632Ser) c.2405A>C (p.Tyr802Ser) c.2066A>C (p.Tyr689Ser) c.2414A>C (p.Tyr805Ser) c.2241+281A>C (n.2241+281A>C) c.2205+281A>C (n.2205+281A>C) c.2444A>C (p.Tyr815Ser) c.2133+281A>C (n.2133+281A>C) c.1680-5922A>C (n.1680-5922A>C) c.2540A>C (p.Tyr847Ser) c.2606A>C (p.Tyr869Ser) c.2603A>C (p.Tyr868Ser) c.2576A>C (p.Tyr859Ser) c.2522A>C (p.Tyr841Ser) c.2495A>C (p.Tyr832Ser) c.2480A>C (p.Tyr827Ser) c.2087A>C (p.Tyr696Ser) c.2549A>C (p.Tyr850Ser) c.2486A>C (p.Tyr829Ser) c.2483A>C (p.Tyr828Ser) c.2441A>C (p.Tyr814Ser) c.1514A>C (p.Tyr505Ser) | |
20 | g.63406766A= | CA2374774236 | KCNQ2 | c.2551T= (p.Tyr851=) c.2497T= (p.Tyr833=) c.1894T= (p.Tyr632=) c.2404T= (p.Tyr802=) c.2065T= (p.Tyr689=) c.2413T= (p.Tyr805=) c.2241+280T= (n.2241+280T=) c.2205+280T= (n.2205+280T=) c.2443T= (p.Tyr815=) c.2133+280T= (n.2133+280T=) c.1680-5923T= (n.1680-5923T=) c.2539T= (p.Tyr847=) c.2605T= (p.Tyr869=) c.2602T= (p.Tyr868=) c.2575T= (p.Tyr859=) c.2521T= (p.Tyr841=) c.2494T= (p.Tyr832=) c.2479T= (p.Tyr827=) c.2086T= (p.Tyr696=) c.2548T= (p.Tyr850=) c.2485T= (p.Tyr829=) c.2482T= (p.Tyr828=) c.2440T= (p.Tyr814=) c.1513T= (p.Tyr505=) | |
20 | g.63406766A>C | CA409636824 | KCNQ2 | c.2551T>G (p.Tyr851Asp) c.2497T>G (p.Tyr833Asp) c.1894T>G (p.Tyr632Asp) c.2404T>G (p.Tyr802Asp) c.2065T>G (p.Tyr689Asp) c.2413T>G (p.Tyr805Asp) c.2241+280T>G (n.2241+280T>G) c.2205+280T>G (n.2205+280T>G) c.2443T>G (p.Tyr815Asp) c.2133+280T>G (n.2133+280T>G) c.1680-5923T>G (n.1680-5923T>G) c.2539T>G (p.Tyr847Asp) c.2605T>G (p.Tyr869Asp) c.2602T>G (p.Tyr868Asp) c.2575T>G (p.Tyr859Asp) c.2521T>G (p.Tyr841Asp) c.2494T>G (p.Tyr832Asp) c.2479T>G (p.Tyr827Asp) c.2086T>G (p.Tyr696Asp) c.2548T>G (p.Tyr850Asp) c.2485T>G (p.Tyr829Asp) c.2482T>G (p.Tyr828Asp) c.2440T>G (p.Tyr814Asp) c.1513T>G (p.Tyr505Asp) | |
20 | g.63406766A>G | CA409636826 | KCNQ2 | c.2551T>C (p.Tyr851His) c.2497T>C (p.Tyr833His) c.1894T>C (p.Tyr632His) c.2404T>C (p.Tyr802His) c.2065T>C (p.Tyr689His) c.2413T>C (p.Tyr805His) c.2241+280T>C (n.2241+280T>C) c.2205+280T>C (n.2205+280T>C) c.2443T>C (p.Tyr815His) c.2133+280T>C (n.2133+280T>C) c.1680-5923T>C (n.1680-5923T>C) c.2539T>C (p.Tyr847His) c.2605T>C (p.Tyr869His) c.2602T>C (p.Tyr868His) c.2575T>C (p.Tyr859His) c.2521T>C (p.Tyr841His) c.2494T>C (p.Tyr832His) c.2479T>C (p.Tyr827His) c.2086T>C (p.Tyr696His) c.2548T>C (p.Tyr850His) c.2485T>C (p.Tyr829His) c.2482T>C (p.Tyr828His) c.2440T>C (p.Tyr814His) c.1513T>C (p.Tyr505His) | dbSNP gnomAD v4 |
20 | g.63406766A>T | CA409636828 | KCNQ2 | c.2551T>A (p.Tyr851Asn) c.2497T>A (p.Tyr833Asn) c.1894T>A (p.Tyr632Asn) c.2404T>A (p.Tyr802Asn) c.2065T>A (p.Tyr689Asn) c.2413T>A (p.Tyr805Asn) c.2241+280T>A (n.2241+280T>A) c.2205+280T>A (n.2205+280T>A) c.2443T>A (p.Tyr815Asn) c.2133+280T>A (n.2133+280T>A) c.1680-5923T>A (n.1680-5923T>A) c.2539T>A (p.Tyr847Asn) c.2605T>A (p.Tyr869Asn) c.2602T>A (p.Tyr868Asn) c.2575T>A (p.Tyr859Asn) c.2521T>A (p.Tyr841Asn) c.2494T>A (p.Tyr832Asn) c.2479T>A (p.Tyr827Asn) c.2086T>A (p.Tyr696Asn) c.2548T>A (p.Tyr850Asn) c.2485T>A (p.Tyr829Asn) c.2482T>A (p.Tyr828Asn) c.2440T>A (p.Tyr814Asn) c.1513T>A (p.Tyr505Asn) | |
20 | g.63406767G>A | CA511339253 | KCNQ2 | c.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 |
20 | g.63406767G>C | CA511339254 | KCNQ2 | c.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 |
20 | g.63406767G= | CA2374774237 | KCNQ2 | c.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=) | |
20 | g.63406767G>T | CA511339256 | KCNQ2 | c.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=) | |
20 | g.63406768G>A | CA409636830 | KCNQ2 | c.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 |
20 | g.63406768G>C | CA409636832 | KCNQ2 | c.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) | |
20 | g.63406768G= | CA2374774238 | KCNQ2 | c.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=) | |
20 | g.63406768G>T | CA409636834 | KCNQ2 | c.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) | |
20 | g.63406769G>A | CA409636837 | KCNQ2 | c.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 |
20 | g.63406769G>C | CA409636838 | KCNQ2 | c.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 |
20 | g.63406769G>T | CA409636840 | KCNQ2 | c.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) | |
20 | g.63406770C>A | CA409636842 | KCNQ2 | c.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 |
20 | g.63406770C>G | CA409636844 | KCNQ2 | c.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) | |
20 | g.63406770C>T | CA511339261 | KCNQ2 | c.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 |
20 | g.63406771C>A | CA409636847 | KCNQ2 | c.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 |
20 | g.63406771C>G | CA409636848 | KCNQ2 | c.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) | |
20 | g.63406771C>T | CA409636850 | KCNQ2 | c.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) | |
20 | g.63406772T>A | CA409636853 | KCNQ2 | c.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) | |
20 | g.63406772T>C | CA409636854 | KCNQ2 | c.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 |
20 | g.63406772T>G | CA511339264 | KCNQ2 | c.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=) | |
20 | g.63406772T= | CA2374774239 | KCNQ2 | c.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=) | |
20 | g.63406773G>A | CA511339266 | KCNQ2 | c.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=) | |
20 | g.63406773G>C | CA9958068 | KCNQ2 | c.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 |
20 | g.63406773G= | CA2374774240 | KCNQ2 | c.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=) | |
20 | g.63406773G>T | CA511339267 | KCNQ2 | c.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=) | |
20 | g.63406774A>C | CA409636857 | KCNQ2 | c.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) | |
20 | g.63406774A>G | CA409636859 | KCNQ2 | c.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) | |
20 | g.63406774A>T | CA409636861 | KCNQ2 | c.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) | |
20 | g.63406775C>A | CA409636863 | KCNQ2 | c.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) | |
20 | g.63406775C= | CA2374774242 | KCNQ2 | c.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=) | |
20 | g.63406775C>G | CA409636865 | KCNQ2 | c.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) | |
20 | g.63406775C>T | CA409636867 | KCNQ2 | c.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 |
20 | g.63406775_63406777delinsCTT | CA2374774241 | KCNQ2 | c.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=) | |
20 | g.63406776T>A | CA409636870 | KCNQ2 | c.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) | |
20 | g.63406776T>C | CA511339269 | KCNQ2 | c.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=) | |
20 | g.63406776T>G | CA409636871 | KCNQ2 | c.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) | |
20 | g.63406778dup | CA658768791 | KCNQ2 | c.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?) | |
20 | g.63406777_63406778del | CA916083758 | KCNQ2 | c.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 |
20 | g.63406777T>A | CA409636873 | KCNQ2 | c.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) | |
20 | g.63406777T>C | CA409636875 | KCNQ2 | c.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) | |
20 | g.63406777T>G | CA409636876 | KCNQ2 | c.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 |
20 | g.63406778T>A | CA409636882 | KCNQ2 | c.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) | |
20 | g.63406778T>C | CA409636880 | KCNQ2 | c.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 |
20 | g.63406778T>G | CA409636878 | KCNQ2 | c.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) | |
20 | g.63406778T= | CA2374774243 | KCNQ2 | c.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=) | |
20 | g.63406779G>A | CA511339274 | KCNQ2 | c.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=) | |
20 | g.63406779G>C | CA317421654 | KCNQ2 | c.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 |
20 | g.63406779G= | CA2374774244 | KCNQ2 | c.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=) | |
20 | g.63406779G>T | CA511339277 | KCNQ2 | c.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=) |