Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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=) | |
20 | g.63406780G>A | CA409636884 | KCNQ2 | c.2537C>T (p.Ala846Val) c.2483C>T (p.Ala828Val) c.1880C>T (p.Ala627Val) c.2390C>T (p.Ala797Val) c.2051C>T (p.Ala684Val) c.2399C>T (p.Ala800Val) c.2241+266C>T (n.2241+266C>T) c.2205+266C>T (n.2205+266C>T) c.2429C>T (p.Ala810Val) c.2133+266C>T (n.2133+266C>T) c.1680-5937C>T (n.1680-5937C>T) c.2525C>T (p.Ala842Val) c.2591C>T (p.Ala864Val) c.2588C>T (p.Ala863Val) c.2561C>T (p.Ala854Val) c.2507C>T (p.Ala836Val) c.2480C>T (p.Ala827Val) c.2465C>T (p.Ala822Val) c.2072C>T (p.Ala691Val) c.2534C>T (p.Ala845Val) c.2471C>T (p.Ala824Val) c.2468C>T (p.Ala823Val) c.2426C>T (p.Ala809Val) c.1499C>T (p.Ala500Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406780G>C | CA409636887 | KCNQ2 | c.2537C>G (p.Ala846Gly) c.2483C>G (p.Ala828Gly) c.1880C>G (p.Ala627Gly) c.2390C>G (p.Ala797Gly) c.2051C>G (p.Ala684Gly) c.2399C>G (p.Ala800Gly) c.2241+266C>G (n.2241+266C>G) c.2205+266C>G (n.2205+266C>G) c.2429C>G (p.Ala810Gly) c.2133+266C>G (n.2133+266C>G) c.1680-5937C>G (n.1680-5937C>G) c.2525C>G (p.Ala842Gly) c.2591C>G (p.Ala864Gly) c.2588C>G (p.Ala863Gly) c.2561C>G (p.Ala854Gly) c.2507C>G (p.Ala836Gly) c.2480C>G (p.Ala827Gly) c.2465C>G (p.Ala822Gly) c.2072C>G (p.Ala691Gly) c.2534C>G (p.Ala845Gly) c.2471C>G (p.Ala824Gly) c.2468C>G (p.Ala823Gly) c.2426C>G (p.Ala809Gly) c.1499C>G (p.Ala500Gly) | |
20 | g.63406780G= | CA2374774245 | KCNQ2 | c.2537C= (p.Ala846=) c.2483C= (p.Ala828=) c.1880C= (p.Ala627=) c.2390C= (p.Ala797=) c.2051C= (p.Ala684=) c.2399C= (p.Ala800=) c.2241+266C= (n.2241+266C=) c.2205+266C= (n.2205+266C=) c.2429C= (p.Ala810=) c.2133+266C= (n.2133+266C=) c.1680-5937C= (n.1680-5937C=) c.2525C= (p.Ala842=) c.2591C= (p.Ala864=) c.2588C= (p.Ala863=) c.2561C= (p.Ala854=) c.2507C= (p.Ala836=) c.2480C= (p.Ala827=) c.2465C= (p.Ala822=) c.2072C= (p.Ala691=) c.2534C= (p.Ala845=) c.2471C= (p.Ala824=) c.2468C= (p.Ala823=) c.2426C= (p.Ala809=) c.1499C= (p.Ala500=) | |
20 | g.63406780G>T | CA409636886 | KCNQ2 | c.2537C>A (p.Ala846Asp) c.2483C>A (p.Ala828Asp) c.1880C>A (p.Ala627Asp) c.2390C>A (p.Ala797Asp) c.2051C>A (p.Ala684Asp) c.2399C>A (p.Ala800Asp) c.2241+266C>A (n.2241+266C>A) c.2205+266C>A (n.2205+266C>A) c.2429C>A (p.Ala810Asp) c.2133+266C>A (n.2133+266C>A) c.1680-5937C>A (n.1680-5937C>A) c.2525C>A (p.Ala842Asp) c.2591C>A (p.Ala864Asp) c.2588C>A (p.Ala863Asp) c.2561C>A (p.Ala854Asp) c.2507C>A (p.Ala836Asp) c.2480C>A (p.Ala827Asp) c.2465C>A (p.Ala822Asp) c.2072C>A (p.Ala691Asp) c.2534C>A (p.Ala845Asp) c.2471C>A (p.Ala824Asp) c.2468C>A (p.Ala823Asp) c.2426C>A (p.Ala809Asp) c.1499C>A (p.Ala500Asp) | |
20 | g.63406781C>A | CA409636889 | KCNQ2 | c.2536G>T (p.Ala846Ser) c.2482G>T (p.Ala828Ser) c.1879G>T (p.Ala627Ser) c.2389G>T (p.Ala797Ser) c.2050G>T (p.Ala684Ser) c.2398G>T (p.Ala800Ser) c.2241+265G>T (n.2241+265G>T) c.2205+265G>T (n.2205+265G>T) c.2428G>T (p.Ala810Ser) c.2133+265G>T (n.2133+265G>T) c.1680-5938G>T (n.1680-5938G>T) c.2524G>T (p.Ala842Ser) c.2590G>T (p.Ala864Ser) c.2587G>T (p.Ala863Ser) c.2560G>T (p.Ala854Ser) c.2506G>T (p.Ala836Ser) c.2479G>T (p.Ala827Ser) c.2464G>T (p.Ala822Ser) c.2071G>T (p.Ala691Ser) c.2533G>T (p.Ala845Ser) c.2470G>T (p.Ala824Ser) c.2467G>T (p.Ala823Ser) c.2425G>T (p.Ala809Ser) c.1498G>T (p.Ala500Ser) | |
20 | g.63406781C>G | CA409636890 | KCNQ2 | c.2536G>C (p.Ala846Pro) c.2482G>C (p.Ala828Pro) c.1879G>C (p.Ala627Pro) c.2389G>C (p.Ala797Pro) c.2050G>C (p.Ala684Pro) c.2398G>C (p.Ala800Pro) c.2241+265G>C (n.2241+265G>C) c.2205+265G>C (n.2205+265G>C) c.2428G>C (p.Ala810Pro) c.2133+265G>C (n.2133+265G>C) c.1680-5938G>C (n.1680-5938G>C) c.2524G>C (p.Ala842Pro) c.2590G>C (p.Ala864Pro) c.2587G>C (p.Ala863Pro) c.2560G>C (p.Ala854Pro) c.2506G>C (p.Ala836Pro) c.2479G>C (p.Ala827Pro) c.2464G>C (p.Ala822Pro) c.2071G>C (p.Ala691Pro) c.2533G>C (p.Ala845Pro) c.2470G>C (p.Ala824Pro) c.2467G>C (p.Ala823Pro) c.2425G>C (p.Ala809Pro) c.1498G>C (p.Ala500Pro) | |
20 | g.63406781C>T | CA409636892 | KCNQ2 | c.2536G>A (p.Ala846Thr) c.2482G>A (p.Ala828Thr) c.1879G>A (p.Ala627Thr) c.2389G>A (p.Ala797Thr) c.2050G>A (p.Ala684Thr) c.2398G>A (p.Ala800Thr) c.2241+265G>A (n.2241+265G>A) c.2205+265G>A (n.2205+265G>A) c.2428G>A (p.Ala810Thr) c.2133+265G>A (n.2133+265G>A) c.1680-5938G>A (n.1680-5938G>A) c.2524G>A (p.Ala842Thr) c.2590G>A (p.Ala864Thr) c.2587G>A (p.Ala863Thr) c.2560G>A (p.Ala854Thr) c.2506G>A (p.Ala836Thr) c.2479G>A (p.Ala827Thr) c.2464G>A (p.Ala822Thr) c.2071G>A (p.Ala691Thr) c.2533G>A (p.Ala845Thr) c.2470G>A (p.Ala824Thr) c.2467G>A (p.Ala823Thr) c.2425G>A (p.Ala809Thr) c.1498G>A (p.Ala500Thr) | |
20 | g.63406782A= | CA2374774246 | KCNQ2 | c.2535T= (p.Cys845=) c.2481T= (p.Cys827=) c.1878T= (p.Cys626=) c.2388T= (p.Cys796=) c.2049T= (p.Cys683=) c.2397T= (p.Cys799=) c.2241+264T= (n.2241+264T=) c.2205+264T= (n.2205+264T=) c.2427T= (p.Cys809=) c.2133+264T= (n.2133+264T=) c.1680-5939T= (n.1680-5939T=) c.2523T= (p.Cys841=) c.2589T= (p.Cys863=) c.2586T= (p.Cys862=) c.2559T= (p.Cys853=) c.2505T= (p.Cys835=) c.2478T= (p.Cys826=) c.2463T= (p.Cys821=) c.2070T= (p.Cys690=) c.2532T= (p.Cys844=) c.2469T= (p.Cys823=) c.2466T= (p.Cys822=) c.2424T= (p.Cys808=) c.1497T= (p.Cys499=) | |
20 | g.63406782A>C | CA409636895 | KCNQ2 | c.2535T>G (p.Cys845Trp) c.2481T>G (p.Cys827Trp) c.1878T>G (p.Cys626Trp) c.2388T>G (p.Cys796Trp) c.2049T>G (p.Cys683Trp) c.2397T>G (p.Cys799Trp) c.2241+264T>G (n.2241+264T>G) c.2205+264T>G (n.2205+264T>G) c.2427T>G (p.Cys809Trp) c.2133+264T>G (n.2133+264T>G) c.1680-5939T>G (n.1680-5939T>G) c.2523T>G (p.Cys841Trp) c.2589T>G (p.Cys863Trp) c.2586T>G (p.Cys862Trp) c.2559T>G (p.Cys853Trp) c.2505T>G (p.Cys835Trp) c.2478T>G (p.Cys826Trp) c.2463T>G (p.Cys821Trp) c.2070T>G (p.Cys690Trp) c.2532T>G (p.Cys844Trp) c.2469T>G (p.Cys823Trp) c.2466T>G (p.Cys822Trp) c.2424T>G (p.Cys808Trp) c.1497T>G (p.Cys499Trp) | |
20 | g.63406782A>G | CA9958069 | KCNQ2 | c.2535T>C (p.Cys845=) c.2481T>C (p.Cys827=) c.1878T>C (p.Cys626=) c.2388T>C (p.Cys796=) c.2049T>C (p.Cys683=) c.2397T>C (p.Cys799=) c.2241+264T>C (n.2241+264T>C) c.2205+264T>C (n.2205+264T>C) c.2427T>C (p.Cys809=) c.2133+264T>C (n.2133+264T>C) c.1680-5939T>C (n.1680-5939T>C) c.2523T>C (p.Cys841=) c.2589T>C (p.Cys863=) c.2586T>C (p.Cys862=) c.2559T>C (p.Cys853=) c.2505T>C (p.Cys835=) c.2478T>C (p.Cys826=) c.2463T>C (p.Cys821=) c.2070T>C (p.Cys690=) c.2532T>C (p.Cys844=) c.2469T>C (p.Cys823=) c.2466T>C (p.Cys822=) c.2424T>C (p.Cys808=) c.1497T>C (p.Cys499=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406782A>T | CA409636896 | KCNQ2 | c.2535T>A (p.Cys845Ter) c.2481T>A (p.Cys827Ter) c.1878T>A (p.Cys626Ter) c.2388T>A (p.Cys796Ter) c.2049T>A (p.Cys683Ter) c.2397T>A (p.Cys799Ter) c.2241+264T>A (n.2241+264T>A) c.2205+264T>A (n.2205+264T>A) c.2427T>A (p.Cys809Ter) c.2133+264T>A (n.2133+264T>A) c.1680-5939T>A (n.1680-5939T>A) c.2523T>A (p.Cys841Ter) c.2589T>A (p.Cys863Ter) c.2586T>A (p.Cys862Ter) c.2559T>A (p.Cys853Ter) c.2505T>A (p.Cys835Ter) c.2478T>A (p.Cys826Ter) c.2463T>A (p.Cys821Ter) c.2070T>A (p.Cys690Ter) c.2532T>A (p.Cys844Ter) c.2469T>A (p.Cys823Ter) c.2466T>A (p.Cys822Ter) c.2424T>A (p.Cys808Ter) c.1497T>A (p.Cys499Ter) | |
20 | g.63406783C>A | CA409636899 | KCNQ2 | c.2534G>T (p.Cys845Phe) c.2480G>T (p.Cys827Phe) c.1877G>T (p.Cys626Phe) c.2387G>T (p.Cys796Phe) c.2048G>T (p.Cys683Phe) c.2396G>T (p.Cys799Phe) c.2241+263G>T (n.2241+263G>T) c.2205+263G>T (n.2205+263G>T) c.2426G>T (p.Cys809Phe) c.2133+263G>T (n.2133+263G>T) c.1680-5940G>T (n.1680-5940G>T) c.2522G>T (p.Cys841Phe) c.2588G>T (p.Cys863Phe) c.2585G>T (p.Cys862Phe) c.2558G>T (p.Cys853Phe) c.2504G>T (p.Cys835Phe) c.2477G>T (p.Cys826Phe) c.2462G>T (p.Cys821Phe) c.2069G>T (p.Cys690Phe) c.2531G>T (p.Cys844Phe) c.2468G>T (p.Cys823Phe) c.2465G>T (p.Cys822Phe) c.2423G>T (p.Cys808Phe) c.1496G>T (p.Cys499Phe) | ClinVar dbSNP |
20 | g.63406783C>G | CA409636900 | KCNQ2 | c.2534G>C (p.Cys845Ser) c.2480G>C (p.Cys827Ser) c.1877G>C (p.Cys626Ser) c.2387G>C (p.Cys796Ser) c.2048G>C (p.Cys683Ser) c.2396G>C (p.Cys799Ser) c.2241+263G>C (n.2241+263G>C) c.2205+263G>C (n.2205+263G>C) c.2426G>C (p.Cys809Ser) c.2133+263G>C (n.2133+263G>C) c.1680-5940G>C (n.1680-5940G>C) c.2522G>C (p.Cys841Ser) c.2588G>C (p.Cys863Ser) c.2585G>C (p.Cys862Ser) c.2558G>C (p.Cys853Ser) c.2504G>C (p.Cys835Ser) c.2477G>C (p.Cys826Ser) c.2462G>C (p.Cys821Ser) c.2069G>C (p.Cys690Ser) c.2531G>C (p.Cys844Ser) c.2468G>C (p.Cys823Ser) c.2465G>C (p.Cys822Ser) c.2423G>C (p.Cys808Ser) c.1496G>C (p.Cys499Ser) | |
20 | g.63406783C>T | CA409636902 | KCNQ2 | c.2534G>A (p.Cys845Tyr) c.2480G>A (p.Cys827Tyr) c.1877G>A (p.Cys626Tyr) c.2387G>A (p.Cys796Tyr) c.2048G>A (p.Cys683Tyr) c.2396G>A (p.Cys799Tyr) c.2241+263G>A (n.2241+263G>A) c.2205+263G>A (n.2205+263G>A) c.2426G>A (p.Cys809Tyr) c.2133+263G>A (n.2133+263G>A) c.1680-5940G>A (n.1680-5940G>A) c.2522G>A (p.Cys841Tyr) c.2588G>A (p.Cys863Tyr) c.2585G>A (p.Cys862Tyr) c.2558G>A (p.Cys853Tyr) c.2504G>A (p.Cys835Tyr) c.2477G>A (p.Cys826Tyr) c.2462G>A (p.Cys821Tyr) c.2069G>A (p.Cys690Tyr) c.2531G>A (p.Cys844Tyr) c.2468G>A (p.Cys823Tyr) c.2465G>A (p.Cys822Tyr) c.2423G>A (p.Cys808Tyr) c.1496G>A (p.Cys499Tyr) | gnomAD v4 |
20 | g.63406784A>C | CA409636904 | KCNQ2 | c.2533T>G (p.Cys845Gly) c.2479T>G (p.Cys827Gly) c.1876T>G (p.Cys626Gly) c.2386T>G (p.Cys796Gly) c.2047T>G (p.Cys683Gly) c.2395T>G (p.Cys799Gly) c.2241+262T>G (n.2241+262T>G) c.2205+262T>G (n.2205+262T>G) c.2425T>G (p.Cys809Gly) c.2133+262T>G (n.2133+262T>G) c.1680-5941T>G (n.1680-5941T>G) c.2521T>G (p.Cys841Gly) c.2587T>G (p.Cys863Gly) c.2584T>G (p.Cys862Gly) c.2557T>G (p.Cys853Gly) c.2503T>G (p.Cys835Gly) c.2476T>G (p.Cys826Gly) c.2461T>G (p.Cys821Gly) c.2068T>G (p.Cys690Gly) c.2530T>G (p.Cys844Gly) c.2467T>G (p.Cys823Gly) c.2464T>G (p.Cys822Gly) c.2422T>G (p.Cys808Gly) c.1495T>G (p.Cys499Gly) | |
20 | g.63406784A>G | CA409636905 | KCNQ2 | c.2533T>C (p.Cys845Arg) c.2479T>C (p.Cys827Arg) c.1876T>C (p.Cys626Arg) c.2386T>C (p.Cys796Arg) c.2047T>C (p.Cys683Arg) c.2395T>C (p.Cys799Arg) c.2241+262T>C (n.2241+262T>C) c.2205+262T>C (n.2205+262T>C) c.2425T>C (p.Cys809Arg) c.2133+262T>C (n.2133+262T>C) c.1680-5941T>C (n.1680-5941T>C) c.2521T>C (p.Cys841Arg) c.2587T>C (p.Cys863Arg) c.2584T>C (p.Cys862Arg) c.2557T>C (p.Cys853Arg) c.2503T>C (p.Cys835Arg) c.2476T>C (p.Cys826Arg) c.2461T>C (p.Cys821Arg) c.2068T>C (p.Cys690Arg) c.2530T>C (p.Cys844Arg) c.2467T>C (p.Cys823Arg) c.2464T>C (p.Cys822Arg) c.2422T>C (p.Cys808Arg) c.1495T>C (p.Cys499Arg) | ClinVar dbSNP |
20 | g.63406784A>T | CA409636907 | KCNQ2 | c.2533T>A (p.Cys845Ser) c.2479T>A (p.Cys827Ser) c.1876T>A (p.Cys626Ser) c.2386T>A (p.Cys796Ser) c.2047T>A (p.Cys683Ser) c.2395T>A (p.Cys799Ser) c.2241+262T>A (n.2241+262T>A) c.2205+262T>A (n.2205+262T>A) c.2425T>A (p.Cys809Ser) c.2133+262T>A (n.2133+262T>A) c.1680-5941T>A (n.1680-5941T>A) c.2521T>A (p.Cys841Ser) c.2587T>A (p.Cys863Ser) c.2584T>A (p.Cys862Ser) c.2557T>A (p.Cys853Ser) c.2503T>A (p.Cys835Ser) c.2476T>A (p.Cys826Ser) c.2461T>A (p.Cys821Ser) c.2068T>A (p.Cys690Ser) c.2530T>A (p.Cys844Ser) c.2467T>A (p.Cys823Ser) c.2464T>A (p.Cys822Ser) c.2422T>A (p.Cys808Ser) c.1495T>A (p.Cys499Ser) | |
20 | g.63406785A>C | CA511339288 | KCNQ2 | c.2532T>G (p.Pro844=) c.2478T>G (p.Pro826=) c.1875T>G (p.Pro625=) c.2385T>G (p.Pro795=) c.2046T>G (p.Pro682=) c.2394T>G (p.Pro798=) c.2241+261T>G (n.2241+261T>G) c.2205+261T>G (n.2205+261T>G) c.2424T>G (p.Pro808=) c.2133+261T>G (n.2133+261T>G) c.1680-5942T>G (n.1680-5942T>G) c.2520T>G (p.Pro840=) c.2586T>G (p.Pro862=) c.2583T>G (p.Pro861=) c.2556T>G (p.Pro852=) c.2502T>G (p.Pro834=) c.2475T>G (p.Pro825=) c.2460T>G (p.Pro820=) c.2067T>G (p.Pro689=) c.2529T>G (p.Pro843=) c.2466T>G (p.Pro822=) c.2463T>G (p.Pro821=) c.2421T>G (p.Pro807=) c.1494T>G (p.Pro498=) | |
20 | g.63406785A>G | CA511339290 | KCNQ2 | c.2532T>C (p.Pro844=) c.2478T>C (p.Pro826=) c.1875T>C (p.Pro625=) c.2385T>C (p.Pro795=) c.2046T>C (p.Pro682=) c.2394T>C (p.Pro798=) c.2241+261T>C (n.2241+261T>C) c.2205+261T>C (n.2205+261T>C) c.2424T>C (p.Pro808=) c.2133+261T>C (n.2133+261T>C) c.1680-5942T>C (n.1680-5942T>C) c.2520T>C (p.Pro840=) c.2586T>C (p.Pro862=) c.2583T>C (p.Pro861=) c.2556T>C (p.Pro852=) c.2502T>C (p.Pro834=) c.2475T>C (p.Pro825=) c.2460T>C (p.Pro820=) c.2067T>C (p.Pro689=) c.2529T>C (p.Pro843=) c.2466T>C (p.Pro822=) c.2463T>C (p.Pro821=) c.2421T>C (p.Pro807=) c.1494T>C (p.Pro498=) | dbSNP |
20 | g.63406785A>T | CA511339292 | KCNQ2 | c.2532T>A (p.Pro844=) c.2478T>A (p.Pro826=) c.1875T>A (p.Pro625=) c.2385T>A (p.Pro795=) c.2046T>A (p.Pro682=) c.2394T>A (p.Pro798=) c.2241+261T>A (n.2241+261T>A) c.2205+261T>A (n.2205+261T>A) c.2424T>A (p.Pro808=) c.2133+261T>A (n.2133+261T>A) c.1680-5942T>A (n.1680-5942T>A) c.2520T>A (p.Pro840=) c.2586T>A (p.Pro862=) c.2583T>A (p.Pro861=) c.2556T>A (p.Pro852=) c.2502T>A (p.Pro834=) c.2475T>A (p.Pro825=) c.2460T>A (p.Pro820=) c.2067T>A (p.Pro689=) c.2529T>A (p.Pro843=) c.2466T>A (p.Pro822=) c.2463T>A (p.Pro821=) c.2421T>A (p.Pro807=) c.1494T>A (p.Pro498=) | |
20 | g.63406786G>A | CA409636912 | KCNQ2 | c.2531C>T (p.Pro844Leu) c.2477C>T (p.Pro826Leu) c.1874C>T (p.Pro625Leu) c.2384C>T (p.Pro795Leu) c.2045C>T (p.Pro682Leu) c.2393C>T (p.Pro798Leu) c.2241+260C>T (n.2241+260C>T) c.2205+260C>T (n.2205+260C>T) c.2423C>T (p.Pro808Leu) c.2133+260C>T (n.2133+260C>T) c.1680-5943C>T (n.1680-5943C>T) c.2519C>T (p.Pro840Leu) c.2585C>T (p.Pro862Leu) c.2582C>T (p.Pro861Leu) c.2555C>T (p.Pro852Leu) c.2501C>T (p.Pro834Leu) c.2474C>T (p.Pro825Leu) c.2459C>T (p.Pro820Leu) c.2066C>T (p.Pro689Leu) c.2528C>T (p.Pro843Leu) c.2465C>T (p.Pro822Leu) c.2462C>T (p.Pro821Leu) c.2420C>T (p.Pro807Leu) c.1493C>T (p.Pro498Leu) | |
20 | g.63406786G>C | CA409636910 | KCNQ2 | c.2531C>G (p.Pro844Arg) c.2477C>G (p.Pro826Arg) c.1874C>G (p.Pro625Arg) c.2384C>G (p.Pro795Arg) c.2045C>G (p.Pro682Arg) c.2393C>G (p.Pro798Arg) c.2241+260C>G (n.2241+260C>G) c.2205+260C>G (n.2205+260C>G) c.2423C>G (p.Pro808Arg) c.2133+260C>G (n.2133+260C>G) c.1680-5943C>G (n.1680-5943C>G) c.2519C>G (p.Pro840Arg) c.2585C>G (p.Pro862Arg) c.2582C>G (p.Pro861Arg) c.2555C>G (p.Pro852Arg) c.2501C>G (p.Pro834Arg) c.2474C>G (p.Pro825Arg) c.2459C>G (p.Pro820Arg) c.2066C>G (p.Pro689Arg) c.2528C>G (p.Pro843Arg) c.2465C>G (p.Pro822Arg) c.2462C>G (p.Pro821Arg) c.2420C>G (p.Pro807Arg) c.1493C>G (p.Pro498Arg) | ClinVar dbSNP |
20 | g.63406786G>T | CA409636909 | KCNQ2 | c.2531C>A (p.Pro844His) c.2477C>A (p.Pro826His) c.1874C>A (p.Pro625His) c.2384C>A (p.Pro795His) c.2045C>A (p.Pro682His) c.2393C>A (p.Pro798His) c.2241+260C>A (n.2241+260C>A) c.2205+260C>A (n.2205+260C>A) c.2423C>A (p.Pro808His) c.2133+260C>A (n.2133+260C>A) c.1680-5943C>A (n.1680-5943C>A) c.2519C>A (p.Pro840His) c.2585C>A (p.Pro862His) c.2582C>A (p.Pro861His) c.2555C>A (p.Pro852His) c.2501C>A (p.Pro834His) c.2474C>A (p.Pro825His) c.2459C>A (p.Pro820His) c.2066C>A (p.Pro689His) c.2528C>A (p.Pro843His) c.2465C>A (p.Pro822His) c.2462C>A (p.Pro821His) c.2420C>A (p.Pro807His) c.1493C>A (p.Pro498His) | COSMIC COSMIC COSMIC |
20 | g.63406787G>A | CA409636914 | KCNQ2 | c.2530C>T (p.Pro844Ser) c.2476C>T (p.Pro826Ser) c.1873C>T (p.Pro625Ser) c.2383C>T (p.Pro795Ser) c.2044C>T (p.Pro682Ser) c.2392C>T (p.Pro798Ser) c.2241+259C>T (n.2241+259C>T) c.2205+259C>T (n.2205+259C>T) c.2422C>T (p.Pro808Ser) c.2133+259C>T (n.2133+259C>T) c.1680-5944C>T (n.1680-5944C>T) c.2518C>T (p.Pro840Ser) c.2584C>T (p.Pro862Ser) c.2581C>T (p.Pro861Ser) c.2554C>T (p.Pro852Ser) c.2500C>T (p.Pro834Ser) c.2473C>T (p.Pro825Ser) c.2458C>T (p.Pro820Ser) c.2065C>T (p.Pro689Ser) c.2527C>T (p.Pro843Ser) c.2464C>T (p.Pro822Ser) c.2461C>T (p.Pro821Ser) c.2419C>T (p.Pro807Ser) c.1492C>T (p.Pro498Ser) | |
20 | g.63406787G>C | CA409636916 | KCNQ2 | c.2530C>G (p.Pro844Ala) c.2476C>G (p.Pro826Ala) c.1873C>G (p.Pro625Ala) c.2383C>G (p.Pro795Ala) c.2044C>G (p.Pro682Ala) c.2392C>G (p.Pro798Ala) c.2241+259C>G (n.2241+259C>G) c.2205+259C>G (n.2205+259C>G) c.2422C>G (p.Pro808Ala) c.2133+259C>G (n.2133+259C>G) c.1680-5944C>G (n.1680-5944C>G) c.2518C>G (p.Pro840Ala) c.2584C>G (p.Pro862Ala) c.2581C>G (p.Pro861Ala) c.2554C>G (p.Pro852Ala) c.2500C>G (p.Pro834Ala) c.2473C>G (p.Pro825Ala) c.2458C>G (p.Pro820Ala) c.2065C>G (p.Pro689Ala) c.2527C>G (p.Pro843Ala) c.2464C>G (p.Pro822Ala) c.2461C>G (p.Pro821Ala) c.2419C>G (p.Pro807Ala) c.1492C>G (p.Pro498Ala) | |
20 | g.63406787G>T | CA409636918 | KCNQ2 | c.2530C>A (p.Pro844Thr) c.2476C>A (p.Pro826Thr) c.1873C>A (p.Pro625Thr) c.2383C>A (p.Pro795Thr) c.2044C>A (p.Pro682Thr) c.2392C>A (p.Pro798Thr) c.2241+259C>A (n.2241+259C>A) c.2205+259C>A (n.2205+259C>A) c.2422C>A (p.Pro808Thr) c.2133+259C>A (n.2133+259C>A) c.1680-5944C>A (n.1680-5944C>A) c.2518C>A (p.Pro840Thr) c.2584C>A (p.Pro862Thr) c.2581C>A (p.Pro861Thr) c.2554C>A (p.Pro852Thr) c.2500C>A (p.Pro834Thr) c.2473C>A (p.Pro825Thr) c.2458C>A (p.Pro820Thr) c.2065C>A (p.Pro689Thr) c.2527C>A (p.Pro843Thr) c.2464C>A (p.Pro822Thr) c.2461C>A (p.Pro821Thr) c.2419C>A (p.Pro807Thr) c.1492C>A (p.Pro498Thr) | gnomAD v4 |
20 | g.63406788C>A | CA511339299 | KCNQ2 | c.2529G>T (p.Ala843=) c.2475G>T (p.Ala825=) c.1872G>T (p.Ala624=) c.2382G>T (p.Ala794=) c.2043G>T (p.Ala681=) c.2391G>T (p.Ala797=) c.2241+258G>T (n.2241+258G>T) c.2205+258G>T (n.2205+258G>T) c.2421G>T (p.Ala807=) c.2133+258G>T (n.2133+258G>T) c.1680-5945G>T (n.1680-5945G>T) c.2517G>T (p.Ala839=) c.2583G>T (p.Ala861=) c.2580G>T (p.Ala860=) c.2553G>T (p.Ala851=) c.2499G>T (p.Ala833=) c.2472G>T (p.Ala824=) c.2457G>T (p.Ala819=) c.2064G>T (p.Ala688=) c.2526G>T (p.Ala842=) c.2463G>T (p.Ala821=) c.2460G>T (p.Ala820=) c.2418G>T (p.Ala806=) c.1491G>T (p.Ala497=) | |
20 | g.63406788C= | CA2374774247 | KCNQ2 | c.2529G= (p.Ala843=) c.2475G= (p.Ala825=) c.1872G= (p.Ala624=) c.2382G= (p.Ala794=) c.2043G= (p.Ala681=) c.2391G= (p.Ala797=) c.2241+258G= (n.2241+258G=) c.2205+258G= (n.2205+258G=) c.2421G= (p.Ala807=) c.2133+258G= (n.2133+258G=) c.1680-5945G= (n.1680-5945G=) c.2517G= (p.Ala839=) c.2583G= (p.Ala861=) c.2580G= (p.Ala860=) c.2553G= (p.Ala851=) c.2499G= (p.Ala833=) c.2472G= (p.Ala824=) c.2457G= (p.Ala819=) c.2064G= (p.Ala688=) c.2526G= (p.Ala842=) c.2463G= (p.Ala821=) c.2460G= (p.Ala820=) c.2418G= (p.Ala806=) c.1491G= (p.Ala497=) | |
20 | g.63406788C>G | CA511339295 | KCNQ2 | c.2529G>C (p.Ala843=) c.2475G>C (p.Ala825=) c.1872G>C (p.Ala624=) c.2382G>C (p.Ala794=) c.2043G>C (p.Ala681=) c.2391G>C (p.Ala797=) c.2241+258G>C (n.2241+258G>C) c.2205+258G>C (n.2205+258G>C) c.2421G>C (p.Ala807=) c.2133+258G>C (n.2133+258G>C) c.1680-5945G>C (n.1680-5945G>C) c.2517G>C (p.Ala839=) c.2583G>C (p.Ala861=) c.2580G>C (p.Ala860=) c.2553G>C (p.Ala851=) c.2499G>C (p.Ala833=) c.2472G>C (p.Ala824=) c.2457G>C (p.Ala819=) c.2064G>C (p.Ala688=) c.2526G>C (p.Ala842=) c.2463G>C (p.Ala821=) c.2460G>C (p.Ala820=) c.2418G>C (p.Ala806=) c.1491G>C (p.Ala497=) | |
20 | g.63406788C>T | CA511339298 | KCNQ2 | c.2529G>A (p.Ala843=) c.2475G>A (p.Ala825=) c.1872G>A (p.Ala624=) c.2382G>A (p.Ala794=) c.2043G>A (p.Ala681=) c.2391G>A (p.Ala797=) c.2241+258G>A (n.2241+258G>A) c.2205+258G>A (n.2205+258G>A) c.2421G>A (p.Ala807=) c.2133+258G>A (n.2133+258G>A) c.1680-5945G>A (n.1680-5945G>A) c.2517G>A (p.Ala839=) c.2583G>A (p.Ala861=) c.2580G>A (p.Ala860=) c.2553G>A (p.Ala851=) c.2499G>A (p.Ala833=) c.2472G>A (p.Ala824=) c.2457G>A (p.Ala819=) c.2064G>A (p.Ala688=) c.2526G>A (p.Ala842=) c.2463G>A (p.Ala821=) c.2460G>A (p.Ala820=) c.2418G>A (p.Ala806=) c.1491G>A (p.Ala497=) | ClinVar dbSNP gnomAD v4 |
20 | g.63406789G>A | CA409636920 | KCNQ2 | c.2528C>T (p.Ala843Val) c.2474C>T (p.Ala825Val) c.1871C>T (p.Ala624Val) c.2381C>T (p.Ala794Val) c.2042C>T (p.Ala681Val) c.2390C>T (p.Ala797Val) c.2241+257C>T (n.2241+257C>T) c.2205+257C>T (n.2205+257C>T) c.2420C>T (p.Ala807Val) c.2133+257C>T (n.2133+257C>T) c.1680-5946C>T (n.1680-5946C>T) c.2516C>T (p.Ala839Val) c.2582C>T (p.Ala861Val) c.2579C>T (p.Ala860Val) c.2552C>T (p.Ala851Val) c.2498C>T (p.Ala833Val) c.2471C>T (p.Ala824Val) c.2456C>T (p.Ala819Val) c.2063C>T (p.Ala688Val) c.2525C>T (p.Ala842Val) c.2462C>T (p.Ala821Val) c.2459C>T (p.Ala820Val) c.2417C>T (p.Ala806Val) c.1490C>T (p.Ala497Val) | gnomAD v4 |
20 | g.63406789G>C | CA409636921 | KCNQ2 | c.2528C>G (p.Ala843Gly) c.2474C>G (p.Ala825Gly) c.1871C>G (p.Ala624Gly) c.2381C>G (p.Ala794Gly) c.2042C>G (p.Ala681Gly) c.2390C>G (p.Ala797Gly) c.2241+257C>G (n.2241+257C>G) c.2205+257C>G (n.2205+257C>G) c.2420C>G (p.Ala807Gly) c.2133+257C>G (n.2133+257C>G) c.1680-5946C>G (n.1680-5946C>G) c.2516C>G (p.Ala839Gly) c.2582C>G (p.Ala861Gly) c.2579C>G (p.Ala860Gly) c.2552C>G (p.Ala851Gly) c.2498C>G (p.Ala833Gly) c.2471C>G (p.Ala824Gly) c.2456C>G (p.Ala819Gly) c.2063C>G (p.Ala688Gly) c.2525C>G (p.Ala842Gly) c.2462C>G (p.Ala821Gly) c.2459C>G (p.Ala820Gly) c.2417C>G (p.Ala806Gly) c.1490C>G (p.Ala497Gly) | ClinVar dbSNP |
20 | g.63406789G= | CA2374774248 | KCNQ2 | c.2528C= (p.Ala843=) c.2474C= (p.Ala825=) c.1871C= (p.Ala624=) c.2381C= (p.Ala794=) c.2042C= (p.Ala681=) c.2390C= (p.Ala797=) c.2241+257C= (n.2241+257C=) c.2205+257C= (n.2205+257C=) c.2420C= (p.Ala807=) c.2133+257C= (n.2133+257C=) c.1680-5946C= (n.1680-5946C=) c.2516C= (p.Ala839=) c.2582C= (p.Ala861=) c.2579C= (p.Ala860=) c.2552C= (p.Ala851=) c.2498C= (p.Ala833=) c.2471C= (p.Ala824=) c.2456C= (p.Ala819=) c.2063C= (p.Ala688=) c.2525C= (p.Ala842=) c.2462C= (p.Ala821=) c.2459C= (p.Ala820=) c.2417C= (p.Ala806=) c.1490C= (p.Ala497=) | |
20 | g.63406789G>T | CA409636923 | KCNQ2 | c.2528C>A (p.Ala843Glu) c.2474C>A (p.Ala825Glu) c.1871C>A (p.Ala624Glu) c.2381C>A (p.Ala794Glu) c.2042C>A (p.Ala681Glu) c.2390C>A (p.Ala797Glu) c.2241+257C>A (n.2241+257C>A) c.2205+257C>A (n.2205+257C>A) c.2420C>A (p.Ala807Glu) c.2133+257C>A (n.2133+257C>A) c.1680-5946C>A (n.1680-5946C>A) c.2516C>A (p.Ala839Glu) c.2582C>A (p.Ala861Glu) c.2579C>A (p.Ala860Glu) c.2552C>A (p.Ala851Glu) c.2498C>A (p.Ala833Glu) c.2471C>A (p.Ala824Glu) c.2456C>A (p.Ala819Glu) c.2063C>A (p.Ala688Glu) c.2525C>A (p.Ala842Glu) c.2462C>A (p.Ala821Glu) c.2459C>A (p.Ala820Glu) c.2417C>A (p.Ala806Glu) c.1490C>A (p.Ala497Glu) | COSMIC |
20 | g.63406790C>A | CA409636925 | KCNQ2 | c.2527G>T (p.Ala843Ser) c.2473G>T (p.Ala825Ser) c.1870G>T (p.Ala624Ser) c.2380G>T (p.Ala794Ser) c.2041G>T (p.Ala681Ser) c.2389G>T (p.Ala797Ser) c.2241+256G>T (n.2241+256G>T) c.2205+256G>T (n.2205+256G>T) c.2419G>T (p.Ala807Ser) c.2133+256G>T (n.2133+256G>T) c.1680-5947G>T (n.1680-5947G>T) c.2515G>T (p.Ala839Ser) c.2581G>T (p.Ala861Ser) c.2578G>T (p.Ala860Ser) c.2551G>T (p.Ala851Ser) c.2497G>T (p.Ala833Ser) c.2470G>T (p.Ala824Ser) c.2455G>T (p.Ala819Ser) c.2062G>T (p.Ala688Ser) c.2524G>T (p.Ala842Ser) c.2461G>T (p.Ala821Ser) c.2458G>T (p.Ala820Ser) c.2416G>T (p.Ala806Ser) c.1489G>T (p.Ala497Ser) | |
20 | g.63406790C>G | CA409636927 | KCNQ2 | c.2527G>C (p.Ala843Pro) c.2473G>C (p.Ala825Pro) c.1870G>C (p.Ala624Pro) c.2380G>C (p.Ala794Pro) c.2041G>C (p.Ala681Pro) c.2389G>C (p.Ala797Pro) c.2241+256G>C (n.2241+256G>C) c.2205+256G>C (n.2205+256G>C) c.2419G>C (p.Ala807Pro) c.2133+256G>C (n.2133+256G>C) c.1680-5947G>C (n.1680-5947G>C) c.2515G>C (p.Ala839Pro) c.2581G>C (p.Ala861Pro) c.2578G>C (p.Ala860Pro) c.2551G>C (p.Ala851Pro) c.2497G>C (p.Ala833Pro) c.2470G>C (p.Ala824Pro) c.2455G>C (p.Ala819Pro) c.2062G>C (p.Ala688Pro) c.2524G>C (p.Ala842Pro) c.2461G>C (p.Ala821Pro) c.2458G>C (p.Ala820Pro) c.2416G>C (p.Ala806Pro) c.1489G>C (p.Ala497Pro) | |
20 | g.63406790C>T | CA409636929 | KCNQ2 | c.2527G>A (p.Ala843Thr) c.2473G>A (p.Ala825Thr) c.1870G>A (p.Ala624Thr) c.2380G>A (p.Ala794Thr) c.2041G>A (p.Ala681Thr) c.2389G>A (p.Ala797Thr) c.2241+256G>A (n.2241+256G>A) c.2205+256G>A (n.2205+256G>A) c.2419G>A (p.Ala807Thr) c.2133+256G>A (n.2133+256G>A) c.1680-5947G>A (n.1680-5947G>A) c.2515G>A (p.Ala839Thr) c.2581G>A (p.Ala861Thr) c.2578G>A (p.Ala860Thr) c.2551G>A (p.Ala851Thr) c.2497G>A (p.Ala833Thr) c.2470G>A (p.Ala824Thr) c.2455G>A (p.Ala819Thr) c.2062G>A (p.Ala688Thr) c.2524G>A (p.Ala842Thr) c.2461G>A (p.Ala821Thr) c.2458G>A (p.Ala820Thr) c.2416G>A (p.Ala806Thr) c.1489G>A (p.Ala497Thr) | |
20 | g.63406791C>A | CA511339306 | KCNQ2 | c.2526G>T (p.Val842=) c.2472G>T (p.Val824=) c.1869G>T (p.Val623=) c.2379G>T (p.Val793=) c.2040G>T (p.Val680=) c.2388G>T (p.Val796=) c.2241+255G>T (n.2241+255G>T) c.2205+255G>T (n.2205+255G>T) c.2418G>T (p.Val806=) c.2133+255G>T (n.2133+255G>T) c.1680-5948G>T (n.1680-5948G>T) c.2514G>T (p.Val838=) c.2580G>T (p.Val860=) c.2577G>T (p.Val859=) c.2550G>T (p.Val850=) c.2496G>T (p.Val832=) c.2469G>T (p.Val823=) c.2454G>T (p.Val818=) c.2061G>T (p.Val687=) c.2523G>T (p.Val841=) c.2460G>T (p.Val820=) c.2457G>T (p.Val819=) c.2415G>T (p.Val805=) c.1488G>T (p.Val496=) | |
20 | g.63406791C>G | CA511339307 | KCNQ2 | c.2526G>C (p.Val842=) c.2472G>C (p.Val824=) c.1869G>C (p.Val623=) c.2379G>C (p.Val793=) c.2040G>C (p.Val680=) c.2388G>C (p.Val796=) c.2241+255G>C (n.2241+255G>C) c.2205+255G>C (n.2205+255G>C) c.2418G>C (p.Val806=) c.2133+255G>C (n.2133+255G>C) c.1680-5948G>C (n.1680-5948G>C) c.2514G>C (p.Val838=) c.2580G>C (p.Val860=) c.2577G>C (p.Val859=) c.2550G>C (p.Val850=) c.2496G>C (p.Val832=) c.2469G>C (p.Val823=) c.2454G>C (p.Val818=) c.2061G>C (p.Val687=) c.2523G>C (p.Val841=) c.2460G>C (p.Val820=) c.2457G>C (p.Val819=) c.2415G>C (p.Val805=) c.1488G>C (p.Val496=) | |
20 | g.63406791C>T | CA511339308 | KCNQ2 | c.2526G>A (p.Val842=) c.2472G>A (p.Val824=) c.1869G>A (p.Val623=) c.2379G>A (p.Val793=) c.2040G>A (p.Val680=) c.2388G>A (p.Val796=) c.2241+255G>A (n.2241+255G>A) c.2205+255G>A (n.2205+255G>A) c.2418G>A (p.Val806=) c.2133+255G>A (n.2133+255G>A) c.1680-5948G>A (n.1680-5948G>A) c.2514G>A (p.Val838=) c.2580G>A (p.Val860=) c.2577G>A (p.Val859=) c.2550G>A (p.Val850=) c.2496G>A (p.Val832=) c.2469G>A (p.Val823=) c.2454G>A (p.Val818=) c.2061G>A (p.Val687=) c.2523G>A (p.Val841=) c.2460G>A (p.Val820=) c.2457G>A (p.Val819=) c.2415G>A (p.Val805=) c.1488G>A (p.Val496=) | |
20 | g.63406792A>C | CA409636931 | KCNQ2 | c.2525T>G (p.Val842Gly) c.2471T>G (p.Val824Gly) c.1868T>G (p.Val623Gly) c.2378T>G (p.Val793Gly) c.2039T>G (p.Val680Gly) c.2387T>G (p.Val796Gly) c.2241+254T>G (n.2241+254T>G) c.2205+254T>G (n.2205+254T>G) c.2417T>G (p.Val806Gly) c.2133+254T>G (n.2133+254T>G) c.1680-5949T>G (n.1680-5949T>G) c.2513T>G (p.Val838Gly) c.2579T>G (p.Val860Gly) c.2576T>G (p.Val859Gly) c.2549T>G (p.Val850Gly) c.2495T>G (p.Val832Gly) c.2468T>G (p.Val823Gly) c.2453T>G (p.Val818Gly) c.2060T>G (p.Val687Gly) c.2522T>G (p.Val841Gly) c.2459T>G (p.Val820Gly) c.2456T>G (p.Val819Gly) c.2414T>G (p.Val805Gly) c.1487T>G (p.Val496Gly) | |
20 | g.63406792A>G | CA409636933 | KCNQ2 | c.2525T>C (p.Val842Ala) c.2471T>C (p.Val824Ala) c.1868T>C (p.Val623Ala) c.2378T>C (p.Val793Ala) c.2039T>C (p.Val680Ala) c.2387T>C (p.Val796Ala) c.2241+254T>C (n.2241+254T>C) c.2205+254T>C (n.2205+254T>C) c.2417T>C (p.Val806Ala) c.2133+254T>C (n.2133+254T>C) c.1680-5949T>C (n.1680-5949T>C) c.2513T>C (p.Val838Ala) c.2579T>C (p.Val860Ala) c.2576T>C (p.Val859Ala) c.2549T>C (p.Val850Ala) c.2495T>C (p.Val832Ala) c.2468T>C (p.Val823Ala) c.2453T>C (p.Val818Ala) c.2060T>C (p.Val687Ala) c.2522T>C (p.Val841Ala) c.2459T>C (p.Val820Ala) c.2456T>C (p.Val819Ala) c.2414T>C (p.Val805Ala) c.1487T>C (p.Val496Ala) | gnomAD v4 |
20 | g.63406792A>T | CA409636935 | KCNQ2 | c.2525T>A (p.Val842Glu) c.2471T>A (p.Val824Glu) c.1868T>A (p.Val623Glu) c.2378T>A (p.Val793Glu) c.2039T>A (p.Val680Glu) c.2387T>A (p.Val796Glu) c.2241+254T>A (n.2241+254T>A) c.2205+254T>A (n.2205+254T>A) c.2417T>A (p.Val806Glu) c.2133+254T>A (n.2133+254T>A) c.1680-5949T>A (n.1680-5949T>A) c.2513T>A (p.Val838Glu) c.2579T>A (p.Val860Glu) c.2576T>A (p.Val859Glu) c.2549T>A (p.Val850Glu) c.2495T>A (p.Val832Glu) c.2468T>A (p.Val823Glu) c.2453T>A (p.Val818Glu) c.2060T>A (p.Val687Glu) c.2522T>A (p.Val841Glu) c.2459T>A (p.Val820Glu) c.2456T>A (p.Val819Glu) c.2414T>A (p.Val805Glu) c.1487T>A (p.Val496Glu) | |
20 | g.63406793C>A | CA409636940 | KCNQ2 | c.2524G>T (p.Val842Leu) c.2470G>T (p.Val824Leu) c.1867G>T (p.Val623Leu) c.2377G>T (p.Val793Leu) c.2038G>T (p.Val680Leu) c.2386G>T (p.Val796Leu) c.2241+253G>T (n.2241+253G>T) c.2205+253G>T (n.2205+253G>T) c.2416G>T (p.Val806Leu) c.2133+253G>T (n.2133+253G>T) c.1680-5950G>T (n.1680-5950G>T) c.2512G>T (p.Val838Leu) c.2578G>T (p.Val860Leu) c.2575G>T (p.Val859Leu) c.2548G>T (p.Val850Leu) c.2494G>T (p.Val832Leu) c.2467G>T (p.Val823Leu) c.2452G>T (p.Val818Leu) c.2059G>T (p.Val687Leu) c.2521G>T (p.Val841Leu) c.2458G>T (p.Val820Leu) c.2455G>T (p.Val819Leu) c.2413G>T (p.Val805Leu) c.1486G>T (p.Val496Leu) | |
20 | g.63406793C= | CA2374774249 | KCNQ2 | c.2524G= (p.Val842=) c.2470G= (p.Val824=) c.1867G= (p.Val623=) c.2377G= (p.Val793=) c.2038G= (p.Val680=) c.2386G= (p.Val796=) c.2241+253G= (n.2241+253G=) c.2205+253G= (n.2205+253G=) c.2416G= (p.Val806=) c.2133+253G= (n.2133+253G=) c.1680-5950G= (n.1680-5950G=) c.2512G= (p.Val838=) c.2578G= (p.Val860=) c.2575G= (p.Val859=) c.2548G= (p.Val850=) c.2494G= (p.Val832=) c.2467G= (p.Val823=) c.2452G= (p.Val818=) c.2059G= (p.Val687=) c.2521G= (p.Val841=) c.2458G= (p.Val820=) c.2455G= (p.Val819=) c.2413G= (p.Val805=) c.1486G= (p.Val496=) | |
20 | g.63406793C>G | CA9958070 | KCNQ2 | c.2524G>C (p.Val842Leu) c.2470G>C (p.Val824Leu) c.1867G>C (p.Val623Leu) c.2377G>C (p.Val793Leu) c.2038G>C (p.Val680Leu) c.2386G>C (p.Val796Leu) c.2241+253G>C (n.2241+253G>C) c.2205+253G>C (n.2205+253G>C) c.2416G>C (p.Val806Leu) c.2133+253G>C (n.2133+253G>C) c.1680-5950G>C (n.1680-5950G>C) c.2512G>C (p.Val838Leu) c.2578G>C (p.Val860Leu) c.2575G>C (p.Val859Leu) c.2548G>C (p.Val850Leu) c.2494G>C (p.Val832Leu) c.2467G>C (p.Val823Leu) c.2452G>C (p.Val818Leu) c.2059G>C (p.Val687Leu) c.2521G>C (p.Val841Leu) c.2458G>C (p.Val820Leu) c.2455G>C (p.Val819Leu) c.2413G>C (p.Val805Leu) c.1486G>C (p.Val496Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406793C>T | CA409636938 | KCNQ2 | c.2524G>A (p.Val842Met) c.2470G>A (p.Val824Met) c.1867G>A (p.Val623Met) c.2377G>A (p.Val793Met) c.2038G>A (p.Val680Met) c.2386G>A (p.Val796Met) c.2241+253G>A (n.2241+253G>A) c.2205+253G>A (n.2205+253G>A) c.2416G>A (p.Val806Met) c.2133+253G>A (n.2133+253G>A) c.1680-5950G>A (n.1680-5950G>A) c.2512G>A (p.Val838Met) c.2578G>A (p.Val860Met) c.2575G>A (p.Val859Met) c.2548G>A (p.Val850Met) c.2494G>A (p.Val832Met) c.2467G>A (p.Val823Met) c.2452G>A (p.Val818Met) c.2059G>A (p.Val687Met) c.2521G>A (p.Val841Met) c.2458G>A (p.Val820Met) c.2455G>A (p.Val819Met) c.2413G>A (p.Val805Met) c.1486G>A (p.Val496Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406794G>A | CA9958071 | KCNQ2 | c.2523C>T (p.Ala841=) c.2469C>T (p.Ala823=) c.1866C>T (p.Ala622=) c.2376C>T (p.Ala792=) c.2037C>T (p.Ala679=) c.2385C>T (p.Ala795=) c.2241+252C>T (n.2241+252C>T) c.2205+252C>T (n.2205+252C>T) c.2415C>T (p.Ala805=) c.2133+252C>T (n.2133+252C>T) c.1680-5951C>T (n.1680-5951C>T) c.2511C>T (p.Ala837=) c.2577C>T (p.Ala859=) c.2574C>T (p.Ala858=) c.2547C>T (p.Ala849=) c.2493C>T (p.Ala831=) c.2466C>T (p.Ala822=) c.2451C>T (p.Ala817=) c.2058C>T (p.Ala686=) c.2520C>T (p.Ala840=) c.2457C>T (p.Ala819=) c.2454C>T (p.Ala818=) c.2412C>T (p.Ala804=) c.1485C>T (p.Ala495=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406794G>C | CA511339313 | KCNQ2 | c.2523C>G (p.Ala841=) c.2469C>G (p.Ala823=) c.1866C>G (p.Ala622=) c.2376C>G (p.Ala792=) c.2037C>G (p.Ala679=) c.2385C>G (p.Ala795=) c.2241+252C>G (n.2241+252C>G) c.2205+252C>G (n.2205+252C>G) c.2415C>G (p.Ala805=) c.2133+252C>G (n.2133+252C>G) c.1680-5951C>G (n.1680-5951C>G) c.2511C>G (p.Ala837=) c.2577C>G (p.Ala859=) c.2574C>G (p.Ala858=) c.2547C>G (p.Ala849=) c.2493C>G (p.Ala831=) c.2466C>G (p.Ala822=) c.2451C>G (p.Ala817=) c.2058C>G (p.Ala686=) c.2520C>G (p.Ala840=) c.2457C>G (p.Ala819=) c.2454C>G (p.Ala818=) c.2412C>G (p.Ala804=) c.1485C>G (p.Ala495=) | gnomAD v4 |
20 | g.63406794G= | CA2374774250 | KCNQ2 | c.2523C= (p.Ala841=) c.2469C= (p.Ala823=) c.1866C= (p.Ala622=) c.2376C= (p.Ala792=) c.2037C= (p.Ala679=) c.2385C= (p.Ala795=) c.2241+252C= (n.2241+252C=) c.2205+252C= (n.2205+252C=) c.2415C= (p.Ala805=) c.2133+252C= (n.2133+252C=) c.1680-5951C= (n.1680-5951C=) c.2511C= (p.Ala837=) c.2577C= (p.Ala859=) c.2574C= (p.Ala858=) c.2547C= (p.Ala849=) c.2493C= (p.Ala831=) c.2466C= (p.Ala822=) c.2451C= (p.Ala817=) c.2058C= (p.Ala686=) c.2520C= (p.Ala840=) c.2457C= (p.Ala819=) c.2454C= (p.Ala818=) c.2412C= (p.Ala804=) c.1485C= (p.Ala495=) | |
20 | g.63406794G>T | CA511339314 | KCNQ2 | c.2523C>A (p.Ala841=) c.2469C>A (p.Ala823=) c.1866C>A (p.Ala622=) c.2376C>A (p.Ala792=) c.2037C>A (p.Ala679=) c.2385C>A (p.Ala795=) c.2241+252C>A (n.2241+252C>A) c.2205+252C>A (n.2205+252C>A) c.2415C>A (p.Ala805=) c.2133+252C>A (n.2133+252C>A) c.1680-5951C>A (n.1680-5951C>A) c.2511C>A (p.Ala837=) c.2577C>A (p.Ala859=) c.2574C>A (p.Ala858=) c.2547C>A (p.Ala849=) c.2493C>A (p.Ala831=) c.2466C>A (p.Ala822=) c.2451C>A (p.Ala817=) c.2058C>A (p.Ala686=) c.2520C>A (p.Ala840=) c.2457C>A (p.Ala819=) c.2454C>A (p.Ala818=) c.2412C>A (p.Ala804=) c.1485C>A (p.Ala495=) | |
20 | g.63406795G>A | CA409636944 | KCNQ2 | c.2522C>T (p.Ala841Val) c.2468C>T (p.Ala823Val) c.1865C>T (p.Ala622Val) c.2375C>T (p.Ala792Val) c.2036C>T (p.Ala679Val) c.2384C>T (p.Ala795Val) c.2241+251C>T (n.2241+251C>T) c.2205+251C>T (n.2205+251C>T) c.2414C>T (p.Ala805Val) c.2133+251C>T (n.2133+251C>T) c.1680-5952C>T (n.1680-5952C>T) c.2510C>T (p.Ala837Val) c.2576C>T (p.Ala859Val) c.2573C>T (p.Ala858Val) c.2546C>T (p.Ala849Val) c.2492C>T (p.Ala831Val) c.2465C>T (p.Ala822Val) c.2450C>T (p.Ala817Val) c.2057C>T (p.Ala686Val) c.2519C>T (p.Ala840Val) c.2456C>T (p.Ala819Val) c.2453C>T (p.Ala818Val) c.2411C>T (p.Ala804Val) c.1484C>T (p.Ala495Val) | |
20 | g.63406795G>C | CA409636945 | KCNQ2 | c.2522C>G (p.Ala841Gly) c.2468C>G (p.Ala823Gly) c.1865C>G (p.Ala622Gly) c.2375C>G (p.Ala792Gly) c.2036C>G (p.Ala679Gly) c.2384C>G (p.Ala795Gly) c.2241+251C>G (n.2241+251C>G) c.2205+251C>G (n.2205+251C>G) c.2414C>G (p.Ala805Gly) c.2133+251C>G (n.2133+251C>G) c.1680-5952C>G (n.1680-5952C>G) c.2510C>G (p.Ala837Gly) c.2576C>G (p.Ala859Gly) c.2573C>G (p.Ala858Gly) c.2546C>G (p.Ala849Gly) c.2492C>G (p.Ala831Gly) c.2465C>G (p.Ala822Gly) c.2450C>G (p.Ala817Gly) c.2057C>G (p.Ala686Gly) c.2519C>G (p.Ala840Gly) c.2456C>G (p.Ala819Gly) c.2453C>G (p.Ala818Gly) c.2411C>G (p.Ala804Gly) c.1484C>G (p.Ala495Gly) | |
20 | g.63406795G>T | CA409636947 | KCNQ2 | c.2522C>A (p.Ala841Asp) c.2468C>A (p.Ala823Asp) c.1865C>A (p.Ala622Asp) c.2375C>A (p.Ala792Asp) c.2036C>A (p.Ala679Asp) c.2384C>A (p.Ala795Asp) c.2241+251C>A (n.2241+251C>A) c.2205+251C>A (n.2205+251C>A) c.2414C>A (p.Ala805Asp) c.2133+251C>A (n.2133+251C>A) c.1680-5952C>A (n.1680-5952C>A) c.2510C>A (p.Ala837Asp) c.2576C>A (p.Ala859Asp) c.2573C>A (p.Ala858Asp) c.2546C>A (p.Ala849Asp) c.2492C>A (p.Ala831Asp) c.2465C>A (p.Ala822Asp) c.2450C>A (p.Ala817Asp) c.2057C>A (p.Ala686Asp) c.2519C>A (p.Ala840Asp) c.2456C>A (p.Ala819Asp) c.2453C>A (p.Ala818Asp) c.2411C>A (p.Ala804Asp) c.1484C>A (p.Ala495Asp) | gnomAD v4 |
20 | g.63406796C>A | CA409636949 | KCNQ2 | c.2521G>T (p.Ala841Ser) c.2467G>T (p.Ala823Ser) c.1864G>T (p.Ala622Ser) c.2374G>T (p.Ala792Ser) c.2035G>T (p.Ala679Ser) c.2383G>T (p.Ala795Ser) c.2241+250G>T (n.2241+250G>T) c.2205+250G>T (n.2205+250G>T) c.2413G>T (p.Ala805Ser) c.2133+250G>T (n.2133+250G>T) c.1680-5953G>T (n.1680-5953G>T) c.2509G>T (p.Ala837Ser) c.2575G>T (p.Ala859Ser) c.2572G>T (p.Ala858Ser) c.2545G>T (p.Ala849Ser) c.2491G>T (p.Ala831Ser) c.2464G>T (p.Ala822Ser) c.2449G>T (p.Ala817Ser) c.2056G>T (p.Ala686Ser) c.2518G>T (p.Ala840Ser) c.2455G>T (p.Ala819Ser) c.2452G>T (p.Ala818Ser) c.2410G>T (p.Ala804Ser) c.1483G>T (p.Ala495Ser) | |
20 | g.63406796C>G | CA409636951 | KCNQ2 | c.2521G>C (p.Ala841Pro) c.2467G>C (p.Ala823Pro) c.1864G>C (p.Ala622Pro) c.2374G>C (p.Ala792Pro) c.2035G>C (p.Ala679Pro) c.2383G>C (p.Ala795Pro) c.2241+250G>C (n.2241+250G>C) c.2205+250G>C (n.2205+250G>C) c.2413G>C (p.Ala805Pro) c.2133+250G>C (n.2133+250G>C) c.1680-5953G>C (n.1680-5953G>C) c.2509G>C (p.Ala837Pro) c.2575G>C (p.Ala859Pro) c.2572G>C (p.Ala858Pro) c.2545G>C (p.Ala849Pro) c.2491G>C (p.Ala831Pro) c.2464G>C (p.Ala822Pro) c.2449G>C (p.Ala817Pro) c.2056G>C (p.Ala686Pro) c.2518G>C (p.Ala840Pro) c.2455G>C (p.Ala819Pro) c.2452G>C (p.Ala818Pro) c.2410G>C (p.Ala804Pro) c.1483G>C (p.Ala495Pro) | |
20 | g.63406796C>T | CA409636953 | KCNQ2 | c.2521G>A (p.Ala841Thr) c.2467G>A (p.Ala823Thr) c.1864G>A (p.Ala622Thr) c.2374G>A (p.Ala792Thr) c.2035G>A (p.Ala679Thr) c.2383G>A (p.Ala795Thr) c.2241+250G>A (n.2241+250G>A) c.2205+250G>A (n.2205+250G>A) c.2413G>A (p.Ala805Thr) c.2133+250G>A (n.2133+250G>A) c.1680-5953G>A (n.1680-5953G>A) c.2509G>A (p.Ala837Thr) c.2575G>A (p.Ala859Thr) c.2572G>A (p.Ala858Thr) c.2545G>A (p.Ala849Thr) c.2491G>A (p.Ala831Thr) c.2464G>A (p.Ala822Thr) c.2449G>A (p.Ala817Thr) c.2056G>A (p.Ala686Thr) c.2518G>A (p.Ala840Thr) c.2455G>A (p.Ala819Thr) c.2452G>A (p.Ala818Thr) c.2410G>A (p.Ala804Thr) c.1483G>A (p.Ala495Thr) | |
20 | g.63406797C>A | CA511339320 | KCNQ2 | c.2520G>T (p.Ala840=) c.2466G>T (p.Ala822=) c.1863G>T (p.Ala621=) c.2373G>T (p.Ala791=) c.2034G>T (p.Ala678=) c.2382G>T (p.Ala794=) c.2241+249G>T (n.2241+249G>T) c.2205+249G>T (n.2205+249G>T) c.2412G>T (p.Ala804=) c.2133+249G>T (n.2133+249G>T) c.1680-5954G>T (n.1680-5954G>T) c.2508G>T (p.Ala836=) c.2574G>T (p.Ala858=) c.2571G>T (p.Ala857=) c.2544G>T (p.Ala848=) c.2490G>T (p.Ala830=) c.2463G>T (p.Ala821=) c.2448G>T (p.Ala816=) c.2055G>T (p.Ala685=) c.2517G>T (p.Ala839=) c.2454G>T (p.Ala818=) c.2451G>T (p.Ala817=) c.2409G>T (p.Ala803=) c.1482G>T (p.Ala494=) | |
20 | g.63406797C= | CA2374774251 | KCNQ2 | c.2520G= (p.Ala840=) c.2466G= (p.Ala822=) c.1863G= (p.Ala621=) c.2373G= (p.Ala791=) c.2034G= (p.Ala678=) c.2382G= (p.Ala794=) c.2241+249G= (n.2241+249G=) c.2205+249G= (n.2205+249G=) c.2412G= (p.Ala804=) c.2133+249G= (n.2133+249G=) c.1680-5954G= (n.1680-5954G=) c.2508G= (p.Ala836=) c.2574G= (p.Ala858=) c.2571G= (p.Ala857=) c.2544G= (p.Ala848=) c.2490G= (p.Ala830=) c.2463G= (p.Ala821=) c.2448G= (p.Ala816=) c.2055G= (p.Ala685=) c.2517G= (p.Ala839=) c.2454G= (p.Ala818=) c.2451G= (p.Ala817=) c.2409G= (p.Ala803=) c.1482G= (p.Ala494=) | |
20 | g.63406797C>G | CA511339321 | KCNQ2 | c.2520G>C (p.Ala840=) c.2466G>C (p.Ala822=) c.1863G>C (p.Ala621=) c.2373G>C (p.Ala791=) c.2034G>C (p.Ala678=) c.2382G>C (p.Ala794=) c.2241+249G>C (n.2241+249G>C) c.2205+249G>C (n.2205+249G>C) c.2412G>C (p.Ala804=) c.2133+249G>C (n.2133+249G>C) c.1680-5954G>C (n.1680-5954G>C) c.2508G>C (p.Ala836=) c.2574G>C (p.Ala858=) c.2571G>C (p.Ala857=) c.2544G>C (p.Ala848=) c.2490G>C (p.Ala830=) c.2463G>C (p.Ala821=) c.2448G>C (p.Ala816=) c.2055G>C (p.Ala685=) c.2517G>C (p.Ala839=) c.2454G>C (p.Ala818=) c.2451G>C (p.Ala817=) c.2409G>C (p.Ala803=) c.1482G>C (p.Ala494=) | |
20 | g.63406797C>T | CA9958072 | KCNQ2 | c.2520G>A (p.Ala840=) c.2466G>A (p.Ala822=) c.1863G>A (p.Ala621=) c.2373G>A (p.Ala791=) c.2034G>A (p.Ala678=) c.2382G>A (p.Ala794=) c.2241+249G>A (n.2241+249G>A) c.2205+249G>A (n.2205+249G>A) c.2412G>A (p.Ala804=) c.2133+249G>A (n.2133+249G>A) c.1680-5954G>A (n.1680-5954G>A) c.2508G>A (p.Ala836=) c.2574G>A (p.Ala858=) c.2571G>A (p.Ala857=) c.2544G>A (p.Ala848=) c.2490G>A (p.Ala830=) c.2463G>A (p.Ala821=) c.2448G>A (p.Ala816=) c.2055G>A (p.Ala685=) c.2517G>A (p.Ala839=) c.2454G>A (p.Ala818=) c.2451G>A (p.Ala817=) c.2409G>A (p.Ala803=) c.1482G>A (p.Ala494=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406798G>A | CA090957 | KCNQ2 | c.2519C>T (p.Ala840Val) c.2465C>T (p.Ala822Val) c.1862C>T (p.Ala621Val) c.2372C>T (p.Ala791Val) c.2033C>T (p.Ala678Val) c.2381C>T (p.Ala794Val) c.2241+248C>T (n.2241+248C>T) c.2205+248C>T (n.2205+248C>T) c.2411C>T (p.Ala804Val) c.2133+248C>T (n.2133+248C>T) c.1680-5955C>T (n.1680-5955C>T) c.2507C>T (p.Ala836Val) c.2573C>T (p.Ala858Val) c.2570C>T (p.Ala857Val) c.2543C>T (p.Ala848Val) c.2489C>T (p.Ala830Val) c.2462C>T (p.Ala821Val) c.2447C>T (p.Ala816Val) c.2054C>T (p.Ala685Val) c.2516C>T (p.Ala839Val) c.2453C>T (p.Ala818Val) c.2450C>T (p.Ala817Val) c.2408C>T (p.Ala803Val) c.1481C>T (p.Ala494Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406798G>C | CA409636957 | KCNQ2 | c.2519C>G (p.Ala840Gly) c.2465C>G (p.Ala822Gly) c.1862C>G (p.Ala621Gly) c.2372C>G (p.Ala791Gly) c.2033C>G (p.Ala678Gly) c.2381C>G (p.Ala794Gly) c.2241+248C>G (n.2241+248C>G) c.2205+248C>G (n.2205+248C>G) c.2411C>G (p.Ala804Gly) c.2133+248C>G (n.2133+248C>G) c.1680-5955C>G (n.1680-5955C>G) c.2507C>G (p.Ala836Gly) c.2573C>G (p.Ala858Gly) c.2570C>G (p.Ala857Gly) c.2543C>G (p.Ala848Gly) c.2489C>G (p.Ala830Gly) c.2462C>G (p.Ala821Gly) c.2447C>G (p.Ala816Gly) c.2054C>G (p.Ala685Gly) c.2516C>G (p.Ala839Gly) c.2453C>G (p.Ala818Gly) c.2450C>G (p.Ala817Gly) c.2408C>G (p.Ala803Gly) c.1481C>G (p.Ala494Gly) | |
20 | g.63406798G= | CA2374774252 | KCNQ2 | c.2519C= (p.Ala840=) c.2465C= (p.Ala822=) c.1862C= (p.Ala621=) c.2372C= (p.Ala791=) c.2033C= (p.Ala678=) c.2381C= (p.Ala794=) c.2241+248C= (n.2241+248C=) c.2205+248C= (n.2205+248C=) c.2411C= (p.Ala804=) c.2133+248C= (n.2133+248C=) c.1680-5955C= (n.1680-5955C=) c.2507C= (p.Ala836=) c.2573C= (p.Ala858=) c.2570C= (p.Ala857=) c.2543C= (p.Ala848=) c.2489C= (p.Ala830=) c.2462C= (p.Ala821=) c.2447C= (p.Ala816=) c.2054C= (p.Ala685=) c.2516C= (p.Ala839=) c.2453C= (p.Ala818=) c.2450C= (p.Ala817=) c.2408C= (p.Ala803=) c.1481C= (p.Ala494=) | |
20 | g.63406798G>T | CA409636960 | KCNQ2 | c.2519C>A (p.Ala840Glu) c.2465C>A (p.Ala822Glu) c.1862C>A (p.Ala621Glu) c.2372C>A (p.Ala791Glu) c.2033C>A (p.Ala678Glu) c.2381C>A (p.Ala794Glu) c.2241+248C>A (n.2241+248C>A) c.2205+248C>A (n.2205+248C>A) c.2411C>A (p.Ala804Glu) c.2133+248C>A (n.2133+248C>A) c.1680-5955C>A (n.1680-5955C>A) c.2507C>A (p.Ala836Glu) c.2573C>A (p.Ala858Glu) c.2570C>A (p.Ala857Glu) c.2543C>A (p.Ala848Glu) c.2489C>A (p.Ala830Glu) c.2462C>A (p.Ala821Glu) c.2447C>A (p.Ala816Glu) c.2054C>A (p.Ala685Glu) c.2516C>A (p.Ala839Glu) c.2453C>A (p.Ala818Glu) c.2450C>A (p.Ala817Glu) c.2408C>A (p.Ala803Glu) c.1481C>A (p.Ala494Glu) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406798dup | CA2838520115 | KCNQ2 | c.2519dup (p.Ala841GlyfsTer?) c.2465dup (p.Ala823GlyfsTer?) c.1862dup (p.Ala622GlyfsTer?) c.2372dup (p.Ala792GlyfsTer?) c.2033dup (p.Ala679GlyfsTer?) c.2381dup (p.Ala795GlyfsTer?) c.2241+248dup (n.2241+248dup) c.2205+248dup (n.2205+248dup) c.2411dup (p.Ala805GlyfsTer?) c.2133+248dup (n.2133+248dup) c.1680-5955dup (n.1680-5955dup) c.2507dup (p.Ala837GlyfsTer?) c.2573dup (p.Ala859GlyfsTer?) c.2570dup (p.Ala858GlyfsTer?) c.2543dup (p.Ala849GlyfsTer?) c.2489dup (p.Ala831GlyfsTer?) c.2462dup (p.Ala822GlyfsTer?) c.2447dup (p.Ala817GlyfsTer?) c.2054dup (p.Ala686GlyfsTer?) c.2516dup (p.Ala840GlyfsTer?) c.2453dup (p.Ala819GlyfsTer?) c.2450dup (p.Ala818GlyfsTer?) c.2408dup (p.Ala804GlyfsTer?) c.1481dup (p.Ala495GlyfsTer?) | |
20 | g.63406799C>A | CA409636962 | KCNQ2 | c.2518G>T (p.Ala840Ser) c.2464G>T (p.Ala822Ser) c.1861G>T (p.Ala621Ser) c.2371G>T (p.Ala791Ser) c.2032G>T (p.Ala678Ser) c.2380G>T (p.Ala794Ser) c.2241+247G>T (n.2241+247G>T) c.2205+247G>T (n.2205+247G>T) c.2410G>T (p.Ala804Ser) c.2133+247G>T (n.2133+247G>T) c.1680-5956G>T (n.1680-5956G>T) c.2506G>T (p.Ala836Ser) c.2572G>T (p.Ala858Ser) c.2569G>T (p.Ala857Ser) c.2542G>T (p.Ala848Ser) c.2488G>T (p.Ala830Ser) c.2461G>T (p.Ala821Ser) c.2446G>T (p.Ala816Ser) c.2053G>T (p.Ala685Ser) c.2515G>T (p.Ala839Ser) c.2452G>T (p.Ala818Ser) c.2449G>T (p.Ala817Ser) c.2407G>T (p.Ala803Ser) c.1480G>T (p.Ala494Ser) | |
20 | g.63406799C= | CA2374774253 | KCNQ2 | c.2518G= (p.Ala840=) c.2464G= (p.Ala822=) c.1861G= (p.Ala621=) c.2371G= (p.Ala791=) c.2032G= (p.Ala678=) c.2380G= (p.Ala794=) c.2241+247G= (n.2241+247G=) c.2205+247G= (n.2205+247G=) c.2410G= (p.Ala804=) c.2133+247G= (n.2133+247G=) c.1680-5956G= (n.1680-5956G=) c.2506G= (p.Ala836=) c.2572G= (p.Ala858=) c.2569G= (p.Ala857=) c.2542G= (p.Ala848=) c.2488G= (p.Ala830=) c.2461G= (p.Ala821=) c.2446G= (p.Ala816=) c.2053G= (p.Ala685=) c.2515G= (p.Ala839=) c.2452G= (p.Ala818=) c.2449G= (p.Ala817=) c.2407G= (p.Ala803=) c.1480G= (p.Ala494=) | |
20 | g.63406799C>G | CA9958073 | KCNQ2 | c.2518G>C (p.Ala840Pro) c.2464G>C (p.Ala822Pro) c.1861G>C (p.Ala621Pro) c.2371G>C (p.Ala791Pro) c.2032G>C (p.Ala678Pro) c.2380G>C (p.Ala794Pro) c.2241+247G>C (n.2241+247G>C) c.2205+247G>C (n.2205+247G>C) c.2410G>C (p.Ala804Pro) c.2133+247G>C (n.2133+247G>C) c.1680-5956G>C (n.1680-5956G>C) c.2506G>C (p.Ala836Pro) c.2572G>C (p.Ala858Pro) c.2569G>C (p.Ala857Pro) c.2542G>C (p.Ala848Pro) c.2488G>C (p.Ala830Pro) c.2461G>C (p.Ala821Pro) c.2446G>C (p.Ala816Pro) c.2053G>C (p.Ala685Pro) c.2515G>C (p.Ala839Pro) c.2452G>C (p.Ala818Pro) c.2449G>C (p.Ala817Pro) c.2407G>C (p.Ala803Pro) c.1480G>C (p.Ala494Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406799C>T | CA9958074 | KCNQ2 | c.2518G>A (p.Ala840Thr) c.2464G>A (p.Ala822Thr) c.1861G>A (p.Ala621Thr) c.2371G>A (p.Ala791Thr) c.2032G>A (p.Ala678Thr) c.2380G>A (p.Ala794Thr) c.2241+247G>A (n.2241+247G>A) c.2205+247G>A (n.2205+247G>A) c.2410G>A (p.Ala804Thr) c.2133+247G>A (n.2133+247G>A) c.1680-5956G>A (n.1680-5956G>A) c.2506G>A (p.Ala836Thr) c.2572G>A (p.Ala858Thr) c.2569G>A (p.Ala857Thr) c.2542G>A (p.Ala848Thr) c.2488G>A (p.Ala830Thr) c.2461G>A (p.Ala821Thr) c.2446G>A (p.Ala816Thr) c.2053G>A (p.Ala685Thr) c.2515G>A (p.Ala839Thr) c.2452G>A (p.Ala818Thr) c.2449G>A (p.Ala817Thr) c.2407G>A (p.Ala803Thr) c.1480G>A (p.Ala494Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406800G>A | CA9958075 | KCNQ2 | c.2517C>T (p.Tyr839=) c.2463C>T (p.Tyr821=) c.1860C>T (p.Tyr620=) c.2370C>T (p.Tyr790=) c.2031C>T (p.Tyr677=) c.2379C>T (p.Tyr793=) c.2241+246C>T (n.2241+246C>T) c.2205+246C>T (n.2205+246C>T) c.2409C>T (p.Tyr803=) c.2133+246C>T (n.2133+246C>T) c.1680-5957C>T (n.1680-5957C>T) c.2505C>T (p.Tyr835=) c.2571C>T (p.Tyr857=) c.2568C>T (p.Tyr856=) c.2541C>T (p.Tyr847=) c.2487C>T (p.Tyr829=) c.2460C>T (p.Tyr820=) c.2445C>T (p.Tyr815=) c.2052C>T (p.Tyr684=) c.2514C>T (p.Tyr838=) c.2451C>T (p.Tyr817=) c.2448C>T (p.Tyr816=) c.2406C>T (p.Tyr802=) c.1479C>T (p.Tyr493=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406800G>C | CA409636966 | KCNQ2 | c.2517C>G (p.Tyr839Ter) c.2463C>G (p.Tyr821Ter) c.1860C>G (p.Tyr620Ter) c.2370C>G (p.Tyr790Ter) c.2031C>G (p.Tyr677Ter) c.2379C>G (p.Tyr793Ter) c.2241+246C>G (n.2241+246C>G) c.2205+246C>G (n.2205+246C>G) c.2409C>G (p.Tyr803Ter) c.2133+246C>G (n.2133+246C>G) c.1680-5957C>G (n.1680-5957C>G) c.2505C>G (p.Tyr835Ter) c.2571C>G (p.Tyr857Ter) c.2568C>G (p.Tyr856Ter) c.2541C>G (p.Tyr847Ter) c.2487C>G (p.Tyr829Ter) c.2460C>G (p.Tyr820Ter) c.2445C>G (p.Tyr815Ter) c.2052C>G (p.Tyr684Ter) c.2514C>G (p.Tyr838Ter) c.2451C>G (p.Tyr817Ter) c.2448C>G (p.Tyr816Ter) c.2406C>G (p.Tyr802Ter) c.1479C>G (p.Tyr493Ter) | COSMIC COSMIC COSMIC |
20 | g.63406800G= | CA2374774254 | KCNQ2 | c.2517C= (p.Tyr839=) c.2463C= (p.Tyr821=) c.1860C= (p.Tyr620=) c.2370C= (p.Tyr790=) c.2031C= (p.Tyr677=) c.2379C= (p.Tyr793=) c.2241+246C= (n.2241+246C=) c.2205+246C= (n.2205+246C=) c.2409C= (p.Tyr803=) c.2133+246C= (n.2133+246C=) c.1680-5957C= (n.1680-5957C=) c.2505C= (p.Tyr835=) c.2571C= (p.Tyr857=) c.2568C= (p.Tyr856=) c.2541C= (p.Tyr847=) c.2487C= (p.Tyr829=) c.2460C= (p.Tyr820=) c.2445C= (p.Tyr815=) c.2052C= (p.Tyr684=) c.2514C= (p.Tyr838=) c.2451C= (p.Tyr817=) c.2448C= (p.Tyr816=) c.2406C= (p.Tyr802=) c.1479C= (p.Tyr493=) | |
20 | g.63406800G>T | CA409636965 | KCNQ2 | c.2517C>A (p.Tyr839Ter) c.2463C>A (p.Tyr821Ter) c.1860C>A (p.Tyr620Ter) c.2370C>A (p.Tyr790Ter) c.2031C>A (p.Tyr677Ter) c.2379C>A (p.Tyr793Ter) c.2241+246C>A (n.2241+246C>A) c.2205+246C>A (n.2205+246C>A) c.2409C>A (p.Tyr803Ter) c.2133+246C>A (n.2133+246C>A) c.1680-5957C>A (n.1680-5957C>A) c.2505C>A (p.Tyr835Ter) c.2571C>A (p.Tyr857Ter) c.2568C>A (p.Tyr856Ter) c.2541C>A (p.Tyr847Ter) c.2487C>A (p.Tyr829Ter) c.2460C>A (p.Tyr820Ter) c.2445C>A (p.Tyr815Ter) c.2052C>A (p.Tyr684Ter) c.2514C>A (p.Tyr838Ter) c.2451C>A (p.Tyr817Ter) c.2448C>A (p.Tyr816Ter) c.2406C>A (p.Tyr802Ter) c.1479C>A (p.Tyr493Ter) | |
20 | g.63406801T>A | CA409636969 | KCNQ2 | c.2516A>T (p.Tyr839Phe) c.2462A>T (p.Tyr821Phe) c.1859A>T (p.Tyr620Phe) c.2369A>T (p.Tyr790Phe) c.2030A>T (p.Tyr677Phe) c.2378A>T (p.Tyr793Phe) c.2241+245A>T (n.2241+245A>T) c.2205+245A>T (n.2205+245A>T) c.2408A>T (p.Tyr803Phe) c.2133+245A>T (n.2133+245A>T) c.1680-5958A>T (n.1680-5958A>T) c.2504A>T (p.Tyr835Phe) c.2570A>T (p.Tyr857Phe) c.2567A>T (p.Tyr856Phe) c.2540A>T (p.Tyr847Phe) c.2486A>T (p.Tyr829Phe) c.2459A>T (p.Tyr820Phe) c.2444A>T (p.Tyr815Phe) c.2051A>T (p.Tyr684Phe) c.2513A>T (p.Tyr838Phe) c.2450A>T (p.Tyr817Phe) c.2447A>T (p.Tyr816Phe) c.2405A>T (p.Tyr802Phe) c.1478A>T (p.Tyr493Phe) | gnomAD v4 |
20 | g.63406801T>C | CA409636971 | KCNQ2 | c.2516A>G (p.Tyr839Cys) c.2462A>G (p.Tyr821Cys) c.1859A>G (p.Tyr620Cys) c.2369A>G (p.Tyr790Cys) c.2030A>G (p.Tyr677Cys) c.2378A>G (p.Tyr793Cys) c.2241+245A>G (n.2241+245A>G) c.2205+245A>G (n.2205+245A>G) c.2408A>G (p.Tyr803Cys) c.2133+245A>G (n.2133+245A>G) c.1680-5958A>G (n.1680-5958A>G) c.2504A>G (p.Tyr835Cys) c.2570A>G (p.Tyr857Cys) c.2567A>G (p.Tyr856Cys) c.2540A>G (p.Tyr847Cys) c.2486A>G (p.Tyr829Cys) c.2459A>G (p.Tyr820Cys) c.2444A>G (p.Tyr815Cys) c.2051A>G (p.Tyr684Cys) c.2513A>G (p.Tyr838Cys) c.2450A>G (p.Tyr817Cys) c.2447A>G (p.Tyr816Cys) c.2405A>G (p.Tyr802Cys) c.1478A>G (p.Tyr493Cys) | gnomAD v4 |
20 | g.63406801T>G | CA409636972 | KCNQ2 | c.2516A>C (p.Tyr839Ser) c.2462A>C (p.Tyr821Ser) c.1859A>C (p.Tyr620Ser) c.2369A>C (p.Tyr790Ser) c.2030A>C (p.Tyr677Ser) c.2378A>C (p.Tyr793Ser) c.2241+245A>C (n.2241+245A>C) c.2205+245A>C (n.2205+245A>C) c.2408A>C (p.Tyr803Ser) c.2133+245A>C (n.2133+245A>C) c.1680-5958A>C (n.1680-5958A>C) c.2504A>C (p.Tyr835Ser) c.2570A>C (p.Tyr857Ser) c.2567A>C (p.Tyr856Ser) c.2540A>C (p.Tyr847Ser) c.2486A>C (p.Tyr829Ser) c.2459A>C (p.Tyr820Ser) c.2444A>C (p.Tyr815Ser) c.2051A>C (p.Tyr684Ser) c.2513A>C (p.Tyr838Ser) c.2450A>C (p.Tyr817Ser) c.2447A>C (p.Tyr816Ser) c.2405A>C (p.Tyr802Ser) c.1478A>C (p.Tyr493Ser) | |
20 | g.63406802A>C | CA409636975 | KCNQ2 | c.2515T>G (p.Tyr839Asp) c.2461T>G (p.Tyr821Asp) c.1858T>G (p.Tyr620Asp) c.2368T>G (p.Tyr790Asp) c.2029T>G (p.Tyr677Asp) c.2377T>G (p.Tyr793Asp) c.2241+244T>G (n.2241+244T>G) c.2205+244T>G (n.2205+244T>G) c.2407T>G (p.Tyr803Asp) c.2133+244T>G (n.2133+244T>G) c.1680-5959T>G (n.1680-5959T>G) c.2503T>G (p.Tyr835Asp) c.2569T>G (p.Tyr857Asp) c.2566T>G (p.Tyr856Asp) c.2539T>G (p.Tyr847Asp) c.2485T>G (p.Tyr829Asp) c.2458T>G (p.Tyr820Asp) c.2443T>G (p.Tyr815Asp) c.2050T>G (p.Tyr684Asp) c.2512T>G (p.Tyr838Asp) c.2449T>G (p.Tyr817Asp) c.2446T>G (p.Tyr816Asp) c.2404T>G (p.Tyr802Asp) c.1477T>G (p.Tyr493Asp) | |
20 | g.63406802A>G | CA409636977 | KCNQ2 | c.2515T>C (p.Tyr839His) c.2461T>C (p.Tyr821His) c.1858T>C (p.Tyr620His) c.2368T>C (p.Tyr790His) c.2029T>C (p.Tyr677His) c.2377T>C (p.Tyr793His) c.2241+244T>C (n.2241+244T>C) c.2205+244T>C (n.2205+244T>C) c.2407T>C (p.Tyr803His) c.2133+244T>C (n.2133+244T>C) c.1680-5959T>C (n.1680-5959T>C) c.2503T>C (p.Tyr835His) c.2569T>C (p.Tyr857His) c.2566T>C (p.Tyr856His) c.2539T>C (p.Tyr847His) c.2485T>C (p.Tyr829His) c.2458T>C (p.Tyr820His) c.2443T>C (p.Tyr815His) c.2050T>C (p.Tyr684His) c.2512T>C (p.Tyr838His) c.2449T>C (p.Tyr817His) c.2446T>C (p.Tyr816His) c.2404T>C (p.Tyr802His) c.1477T>C (p.Tyr493His) | |
20 | g.63406802A>T | CA409636978 | KCNQ2 | c.2515T>A (p.Tyr839Asn) c.2461T>A (p.Tyr821Asn) c.1858T>A (p.Tyr620Asn) c.2368T>A (p.Tyr790Asn) c.2029T>A (p.Tyr677Asn) c.2377T>A (p.Tyr793Asn) c.2241+244T>A (n.2241+244T>A) c.2205+244T>A (n.2205+244T>A) c.2407T>A (p.Tyr803Asn) c.2133+244T>A (n.2133+244T>A) c.1680-5959T>A (n.1680-5959T>A) c.2503T>A (p.Tyr835Asn) c.2569T>A (p.Tyr857Asn) c.2566T>A (p.Tyr856Asn) c.2539T>A (p.Tyr847Asn) c.2485T>A (p.Tyr829Asn) c.2458T>A (p.Tyr820Asn) c.2443T>A (p.Tyr815Asn) c.2050T>A (p.Tyr684Asn) c.2512T>A (p.Tyr838Asn) c.2449T>A (p.Tyr817Asn) c.2446T>A (p.Tyr816Asn) c.2404T>A (p.Tyr802Asn) c.1477T>A (p.Tyr493Asn) | |
20 | g.63406803G>A | CA511339327 | KCNQ2 | c.2514C>T (p.Cys838=) c.2460C>T (p.Cys820=) c.1857C>T (p.Cys619=) c.2367C>T (p.Cys789=) c.2028C>T (p.Cys676=) c.2376C>T (p.Cys792=) c.2241+243C>T (n.2241+243C>T) c.2205+243C>T (n.2205+243C>T) c.2406C>T (p.Cys802=) c.2133+243C>T (n.2133+243C>T) c.1680-5960C>T (n.1680-5960C>T) c.2502C>T (p.Cys834=) c.2568C>T (p.Cys856=) c.2565C>T (p.Cys855=) c.2538C>T (p.Cys846=) c.2484C>T (p.Cys828=) c.2457C>T (p.Cys819=) c.2442C>T (p.Cys814=) c.2049C>T (p.Cys683=) c.2511C>T (p.Cys837=) c.2448C>T (p.Cys816=) c.2445C>T (p.Cys815=) c.2403C>T (p.Cys801=) c.1476C>T (p.Cys492=) | |
20 | g.63406803G>C | CA409636979 | KCNQ2 | c.2514C>G (p.Cys838Trp) c.2460C>G (p.Cys820Trp) c.1857C>G (p.Cys619Trp) c.2367C>G (p.Cys789Trp) c.2028C>G (p.Cys676Trp) c.2376C>G (p.Cys792Trp) c.2241+243C>G (n.2241+243C>G) c.2205+243C>G (n.2205+243C>G) c.2406C>G (p.Cys802Trp) c.2133+243C>G (n.2133+243C>G) c.1680-5960C>G (n.1680-5960C>G) c.2502C>G (p.Cys834Trp) c.2568C>G (p.Cys856Trp) c.2565C>G (p.Cys855Trp) c.2538C>G (p.Cys846Trp) c.2484C>G (p.Cys828Trp) c.2457C>G (p.Cys819Trp) c.2442C>G (p.Cys814Trp) c.2049C>G (p.Cys683Trp) c.2511C>G (p.Cys837Trp) c.2448C>G (p.Cys816Trp) c.2445C>G (p.Cys815Trp) c.2403C>G (p.Cys801Trp) c.1476C>G (p.Cys492Trp) | |
20 | g.63406803G>T | CA409636980 | KCNQ2 | c.2514C>A (p.Cys838Ter) c.2460C>A (p.Cys820Ter) c.1857C>A (p.Cys619Ter) c.2367C>A (p.Cys789Ter) c.2028C>A (p.Cys676Ter) c.2376C>A (p.Cys792Ter) c.2241+243C>A (n.2241+243C>A) c.2205+243C>A (n.2205+243C>A) c.2406C>A (p.Cys802Ter) c.2133+243C>A (n.2133+243C>A) c.1680-5960C>A (n.1680-5960C>A) c.2502C>A (p.Cys834Ter) c.2568C>A (p.Cys856Ter) c.2565C>A (p.Cys855Ter) c.2538C>A (p.Cys846Ter) c.2484C>A (p.Cys828Ter) c.2457C>A (p.Cys819Ter) c.2442C>A (p.Cys814Ter) c.2049C>A (p.Cys683Ter) c.2511C>A (p.Cys837Ter) c.2448C>A (p.Cys816Ter) c.2445C>A (p.Cys815Ter) c.2403C>A (p.Cys801Ter) c.1476C>A (p.Cys492Ter) | |
20 | g.63406804C>A | CA409636982 | KCNQ2 | c.2513G>T (p.Cys838Phe) c.2459G>T (p.Cys820Phe) c.1856G>T (p.Cys619Phe) c.2366G>T (p.Cys789Phe) c.2027G>T (p.Cys676Phe) c.2375G>T (p.Cys792Phe) c.2241+242G>T (n.2241+242G>T) c.2205+242G>T (n.2205+242G>T) c.2405G>T (p.Cys802Phe) c.2133+242G>T (n.2133+242G>T) c.1680-5961G>T (n.1680-5961G>T) c.2501G>T (p.Cys834Phe) c.2567G>T (p.Cys856Phe) c.2564G>T (p.Cys855Phe) c.2537G>T (p.Cys846Phe) c.2483G>T (p.Cys828Phe) c.2456G>T (p.Cys819Phe) c.2441G>T (p.Cys814Phe) c.2048G>T (p.Cys683Phe) c.2510G>T (p.Cys837Phe) c.2447G>T (p.Cys816Phe) c.2444G>T (p.Cys815Phe) c.2402G>T (p.Cys801Phe) c.1475G>T (p.Cys492Phe) | |
20 | g.63406804C>G | CA409636984 | KCNQ2 | c.2513G>C (p.Cys838Ser) c.2459G>C (p.Cys820Ser) c.1856G>C (p.Cys619Ser) c.2366G>C (p.Cys789Ser) c.2027G>C (p.Cys676Ser) c.2375G>C (p.Cys792Ser) c.2241+242G>C (n.2241+242G>C) c.2205+242G>C (n.2205+242G>C) c.2405G>C (p.Cys802Ser) c.2133+242G>C (n.2133+242G>C) c.1680-5961G>C (n.1680-5961G>C) c.2501G>C (p.Cys834Ser) c.2567G>C (p.Cys856Ser) c.2564G>C (p.Cys855Ser) c.2537G>C (p.Cys846Ser) c.2483G>C (p.Cys828Ser) c.2456G>C (p.Cys819Ser) c.2441G>C (p.Cys814Ser) c.2048G>C (p.Cys683Ser) c.2510G>C (p.Cys837Ser) c.2447G>C (p.Cys816Ser) c.2444G>C (p.Cys815Ser) c.2402G>C (p.Cys801Ser) c.1475G>C (p.Cys492Ser) | |
20 | g.63406804C>T | CA409636985 | KCNQ2 | c.2513G>A (p.Cys838Tyr) c.2459G>A (p.Cys820Tyr) c.1856G>A (p.Cys619Tyr) c.2366G>A (p.Cys789Tyr) c.2027G>A (p.Cys676Tyr) c.2375G>A (p.Cys792Tyr) c.2241+242G>A (n.2241+242G>A) c.2205+242G>A (n.2205+242G>A) c.2405G>A (p.Cys802Tyr) c.2133+242G>A (n.2133+242G>A) c.1680-5961G>A (n.1680-5961G>A) c.2501G>A (p.Cys834Tyr) c.2567G>A (p.Cys856Tyr) c.2564G>A (p.Cys855Tyr) c.2537G>A (p.Cys846Tyr) c.2483G>A (p.Cys828Tyr) c.2456G>A (p.Cys819Tyr) c.2441G>A (p.Cys814Tyr) c.2048G>A (p.Cys683Tyr) c.2510G>A (p.Cys837Tyr) c.2447G>A (p.Cys816Tyr) c.2444G>A (p.Cys815Tyr) c.2402G>A (p.Cys801Tyr) c.1475G>A (p.Cys492Tyr) | |
20 | g.63406804dup | CA2842871701 | KCNQ2 | c.2513dup (p.Cys838TrpfsTer?) c.2459dup (p.Cys820TrpfsTer?) c.1856dup (p.Cys619TrpfsTer?) c.2366dup (p.Cys789TrpfsTer?) c.2027dup (p.Cys676TrpfsTer?) c.2375dup (p.Cys792TrpfsTer?) c.2241+242dup (n.2241+242dup) c.2205+242dup (n.2205+242dup) c.2405dup (p.Cys802TrpfsTer?) c.2133+242dup (n.2133+242dup) c.1680-5961dup (n.1680-5961dup) c.2501dup (p.Cys834TrpfsTer?) c.2567dup (p.Cys856TrpfsTer?) c.2564dup (p.Cys855TrpfsTer?) c.2537dup (p.Cys846TrpfsTer?) c.2483dup (p.Cys828TrpfsTer?) c.2456dup (p.Cys819TrpfsTer?) c.2441dup (p.Cys814TrpfsTer?) c.2048dup (p.Cys683TrpfsTer?) c.2510dup (p.Cys837TrpfsTer?) c.2447dup (p.Cys816TrpfsTer?) c.2444dup (p.Cys815TrpfsTer?) c.2402dup (p.Cys801TrpfsTer?) c.1475dup (p.Cys492TrpfsTer?) | |
20 | g.63406805A>C | CA409636991 | KCNQ2 | c.2512T>G (p.Cys838Gly) c.2458T>G (p.Cys820Gly) c.1855T>G (p.Cys619Gly) c.2365T>G (p.Cys789Gly) c.2026T>G (p.Cys676Gly) c.2374T>G (p.Cys792Gly) c.2241+241T>G (n.2241+241T>G) c.2205+241T>G (n.2205+241T>G) c.2404T>G (p.Cys802Gly) c.2133+241T>G (n.2133+241T>G) c.1680-5962T>G (n.1680-5962T>G) c.2500T>G (p.Cys834Gly) c.2566T>G (p.Cys856Gly) c.2563T>G (p.Cys855Gly) c.2536T>G (p.Cys846Gly) c.2482T>G (p.Cys828Gly) c.2455T>G (p.Cys819Gly) c.2440T>G (p.Cys814Gly) c.2047T>G (p.Cys683Gly) c.2509T>G (p.Cys837Gly) c.2446T>G (p.Cys816Gly) c.2443T>G (p.Cys815Gly) c.2401T>G (p.Cys801Gly) c.1474T>G (p.Cys492Gly) | |
20 | g.63406805A>G | CA409636990 | KCNQ2 | c.2512T>C (p.Cys838Arg) c.2458T>C (p.Cys820Arg) c.1855T>C (p.Cys619Arg) c.2365T>C (p.Cys789Arg) c.2026T>C (p.Cys676Arg) c.2374T>C (p.Cys792Arg) c.2241+241T>C (n.2241+241T>C) c.2205+241T>C (n.2205+241T>C) c.2404T>C (p.Cys802Arg) c.2133+241T>C (n.2133+241T>C) c.1680-5962T>C (n.1680-5962T>C) c.2500T>C (p.Cys834Arg) c.2566T>C (p.Cys856Arg) c.2563T>C (p.Cys855Arg) c.2536T>C (p.Cys846Arg) c.2482T>C (p.Cys828Arg) c.2455T>C (p.Cys819Arg) c.2440T>C (p.Cys814Arg) c.2047T>C (p.Cys683Arg) c.2509T>C (p.Cys837Arg) c.2446T>C (p.Cys816Arg) c.2443T>C (p.Cys815Arg) c.2401T>C (p.Cys801Arg) c.1474T>C (p.Cys492Arg) | |
20 | g.63406805A>T | CA409636988 | KCNQ2 | c.2512T>A (p.Cys838Ser) c.2458T>A (p.Cys820Ser) c.1855T>A (p.Cys619Ser) c.2365T>A (p.Cys789Ser) c.2026T>A (p.Cys676Ser) c.2374T>A (p.Cys792Ser) c.2241+241T>A (n.2241+241T>A) c.2205+241T>A (n.2205+241T>A) c.2404T>A (p.Cys802Ser) c.2133+241T>A (n.2133+241T>A) c.1680-5962T>A (n.1680-5962T>A) c.2500T>A (p.Cys834Ser) c.2566T>A (p.Cys856Ser) c.2563T>A (p.Cys855Ser) c.2536T>A (p.Cys846Ser) c.2482T>A (p.Cys828Ser) c.2455T>A (p.Cys819Ser) c.2440T>A (p.Cys814Ser) c.2047T>A (p.Cys683Ser) c.2509T>A (p.Cys837Ser) c.2446T>A (p.Cys816Ser) c.2443T>A (p.Cys815Ser) c.2401T>A (p.Cys801Ser) c.1474T>A (p.Cys492Ser) | |
20 | g.63406806G>A | CA511339330 | KCNQ2 | c.2511C>T (p.Ser837=) c.2457C>T (p.Ser819=) c.1854C>T (p.Ser618=) c.2364C>T (p.Ser788=) c.2025C>T (p.Ser675=) c.2373C>T (p.Ser791=) c.2241+240C>T (n.2241+240C>T) c.2205+240C>T (n.2205+240C>T) c.2403C>T (p.Ser801=) c.2133+240C>T (n.2133+240C>T) c.1680-5963C>T (n.1680-5963C>T) c.2499C>T (p.Ser833=) c.2565C>T (p.Ser855=) c.2562C>T (p.Ser854=) c.2535C>T (p.Ser845=) c.2481C>T (p.Ser827=) c.2454C>T (p.Ser818=) c.2439C>T (p.Ser813=) c.2046C>T (p.Ser682=) c.2508C>T (p.Ser836=) c.2445C>T (p.Ser815=) c.2442C>T (p.Ser814=) c.2400C>T (p.Ser800=) c.1473C>T (p.Ser491=) | |
20 | g.63406806G>C | CA409636994 | KCNQ2 | c.2511C>G (p.Ser837Arg) c.2457C>G (p.Ser819Arg) c.1854C>G (p.Ser618Arg) c.2364C>G (p.Ser788Arg) c.2025C>G (p.Ser675Arg) c.2373C>G (p.Ser791Arg) c.2241+240C>G (n.2241+240C>G) c.2205+240C>G (n.2205+240C>G) c.2403C>G (p.Ser801Arg) c.2133+240C>G (n.2133+240C>G) c.1680-5963C>G (n.1680-5963C>G) c.2499C>G (p.Ser833Arg) c.2565C>G (p.Ser855Arg) c.2562C>G (p.Ser854Arg) c.2535C>G (p.Ser845Arg) c.2481C>G (p.Ser827Arg) c.2454C>G (p.Ser818Arg) c.2439C>G (p.Ser813Arg) c.2046C>G (p.Ser682Arg) c.2508C>G (p.Ser836Arg) c.2445C>G (p.Ser815Arg) c.2442C>G (p.Ser814Arg) c.2400C>G (p.Ser800Arg) c.1473C>G (p.Ser491Arg) | |
20 | g.63406806G>T | CA409636996 | KCNQ2 | c.2511C>A (p.Ser837Arg) c.2457C>A (p.Ser819Arg) c.1854C>A (p.Ser618Arg) c.2364C>A (p.Ser788Arg) c.2025C>A (p.Ser675Arg) c.2373C>A (p.Ser791Arg) c.2241+240C>A (n.2241+240C>A) c.2205+240C>A (n.2205+240C>A) c.2403C>A (p.Ser801Arg) c.2133+240C>A (n.2133+240C>A) c.1680-5963C>A (n.1680-5963C>A) c.2499C>A (p.Ser833Arg) c.2565C>A (p.Ser855Arg) c.2562C>A (p.Ser854Arg) c.2535C>A (p.Ser845Arg) c.2481C>A (p.Ser827Arg) c.2454C>A (p.Ser818Arg) c.2439C>A (p.Ser813Arg) c.2046C>A (p.Ser682Arg) c.2508C>A (p.Ser836Arg) c.2445C>A (p.Ser815Arg) c.2442C>A (p.Ser814Arg) c.2400C>A (p.Ser800Arg) c.1473C>A (p.Ser491Arg) | gnomAD v4 |
20 | g.63406807C>A | CA409636999 | KCNQ2 | c.2510G>T (p.Ser837Ile) c.2456G>T (p.Ser819Ile) c.1853G>T (p.Ser618Ile) c.2363G>T (p.Ser788Ile) c.2024G>T (p.Ser675Ile) c.2372G>T (p.Ser791Ile) c.2241+239G>T (n.2241+239G>T) c.2205+239G>T (n.2205+239G>T) c.2402G>T (p.Ser801Ile) c.2133+239G>T (n.2133+239G>T) c.1680-5964G>T (n.1680-5964G>T) c.2498G>T (p.Ser833Ile) c.2564G>T (p.Ser855Ile) c.2561G>T (p.Ser854Ile) c.2534G>T (p.Ser845Ile) c.2480G>T (p.Ser827Ile) c.2453G>T (p.Ser818Ile) c.2438G>T (p.Ser813Ile) c.2045G>T (p.Ser682Ile) c.2507G>T (p.Ser836Ile) c.2444G>T (p.Ser815Ile) c.2441G>T (p.Ser814Ile) c.2399G>T (p.Ser800Ile) c.1472G>T (p.Ser491Ile) | |
20 | g.63406807C>G | CA409637002 | KCNQ2 | c.2510G>C (p.Ser837Thr) c.2456G>C (p.Ser819Thr) c.1853G>C (p.Ser618Thr) c.2363G>C (p.Ser788Thr) c.2024G>C (p.Ser675Thr) c.2372G>C (p.Ser791Thr) c.2241+239G>C (n.2241+239G>C) c.2205+239G>C (n.2205+239G>C) c.2402G>C (p.Ser801Thr) c.2133+239G>C (n.2133+239G>C) c.1680-5964G>C (n.1680-5964G>C) c.2498G>C (p.Ser833Thr) c.2564G>C (p.Ser855Thr) c.2561G>C (p.Ser854Thr) c.2534G>C (p.Ser845Thr) c.2480G>C (p.Ser827Thr) c.2453G>C (p.Ser818Thr) c.2438G>C (p.Ser813Thr) c.2045G>C (p.Ser682Thr) c.2507G>C (p.Ser836Thr) c.2444G>C (p.Ser815Thr) c.2441G>C (p.Ser814Thr) c.2399G>C (p.Ser800Thr) c.1472G>C (p.Ser491Thr) | |
20 | g.63406807C>T | CA409637000 | KCNQ2 | c.2510G>A (p.Ser837Asn) c.2456G>A (p.Ser819Asn) c.1853G>A (p.Ser618Asn) c.2363G>A (p.Ser788Asn) c.2024G>A (p.Ser675Asn) c.2372G>A (p.Ser791Asn) c.2241+239G>A (n.2241+239G>A) c.2205+239G>A (n.2205+239G>A) c.2402G>A (p.Ser801Asn) c.2133+239G>A (n.2133+239G>A) c.1680-5964G>A (n.1680-5964G>A) c.2498G>A (p.Ser833Asn) c.2564G>A (p.Ser855Asn) c.2561G>A (p.Ser854Asn) c.2534G>A (p.Ser845Asn) c.2480G>A (p.Ser827Asn) c.2453G>A (p.Ser818Asn) c.2438G>A (p.Ser813Asn) c.2045G>A (p.Ser682Asn) c.2507G>A (p.Ser836Asn) c.2444G>A (p.Ser815Asn) c.2441G>A (p.Ser814Asn) c.2399G>A (p.Ser800Asn) c.1472G>A (p.Ser491Asn) | gnomAD v4 |
20 | g.63406808T>A | CA409637005 | KCNQ2 | c.2509A>T (p.Ser837Cys) c.2455A>T (p.Ser819Cys) c.1852A>T (p.Ser618Cys) c.2362A>T (p.Ser788Cys) c.2023A>T (p.Ser675Cys) c.2371A>T (p.Ser791Cys) c.2241+238A>T (n.2241+238A>T) c.2205+238A>T (n.2205+238A>T) c.2401A>T (p.Ser801Cys) c.2133+238A>T (n.2133+238A>T) c.1680-5965A>T (n.1680-5965A>T) c.2497A>T (p.Ser833Cys) c.2563A>T (p.Ser855Cys) c.2560A>T (p.Ser854Cys) c.2533A>T (p.Ser845Cys) c.2479A>T (p.Ser827Cys) c.2452A>T (p.Ser818Cys) c.2437A>T (p.Ser813Cys) c.2044A>T (p.Ser682Cys) c.2506A>T (p.Ser836Cys) c.2443A>T (p.Ser815Cys) c.2440A>T (p.Ser814Cys) c.2398A>T (p.Ser800Cys) c.1471A>T (p.Ser491Cys) | |
20 | g.63406808T>C | CA409637007 | KCNQ2 | c.2509A>G (p.Ser837Gly) c.2455A>G (p.Ser819Gly) c.1852A>G (p.Ser618Gly) c.2362A>G (p.Ser788Gly) c.2023A>G (p.Ser675Gly) c.2371A>G (p.Ser791Gly) c.2241+238A>G (n.2241+238A>G) c.2205+238A>G (n.2205+238A>G) c.2401A>G (p.Ser801Gly) c.2133+238A>G (n.2133+238A>G) c.1680-5965A>G (n.1680-5965A>G) c.2497A>G (p.Ser833Gly) c.2563A>G (p.Ser855Gly) c.2560A>G (p.Ser854Gly) c.2533A>G (p.Ser845Gly) c.2479A>G (p.Ser827Gly) c.2452A>G (p.Ser818Gly) c.2437A>G (p.Ser813Gly) c.2044A>G (p.Ser682Gly) c.2506A>G (p.Ser836Gly) c.2443A>G (p.Ser815Gly) c.2440A>G (p.Ser814Gly) c.2398A>G (p.Ser800Gly) c.1471A>G (p.Ser491Gly) | |
20 | g.63406808T>G | CA409637009 | KCNQ2 | c.2509A>C (p.Ser837Arg) c.2455A>C (p.Ser819Arg) c.1852A>C (p.Ser618Arg) c.2362A>C (p.Ser788Arg) c.2023A>C (p.Ser675Arg) c.2371A>C (p.Ser791Arg) c.2241+238A>C (n.2241+238A>C) c.2205+238A>C (n.2205+238A>C) c.2401A>C (p.Ser801Arg) c.2133+238A>C (n.2133+238A>C) c.1680-5965A>C (n.1680-5965A>C) c.2497A>C (p.Ser833Arg) c.2563A>C (p.Ser855Arg) c.2560A>C (p.Ser854Arg) c.2533A>C (p.Ser845Arg) c.2479A>C (p.Ser827Arg) c.2452A>C (p.Ser818Arg) c.2437A>C (p.Ser813Arg) c.2044A>C (p.Ser682Arg) c.2506A>C (p.Ser836Arg) c.2443A>C (p.Ser815Arg) c.2440A>C (p.Ser814Arg) c.2398A>C (p.Ser800Arg) c.1471A>C (p.Ser491Arg) | |
20 | g.63406809G>A | CA9958076 | KCNQ2 | c.2508C>T (p.Asn836=) c.2454C>T (p.Asn818=) c.1851C>T (p.Asn617=) c.2361C>T (p.Asn787=) c.2022C>T (p.Asn674=) c.2370C>T (p.Asn790=) c.2241+237C>T (n.2241+237C>T) c.2205+237C>T (n.2205+237C>T) c.2400C>T (p.Asn800=) c.2133+237C>T (n.2133+237C>T) c.1680-5966C>T (n.1680-5966C>T) c.2496C>T (p.Asn832=) c.2562C>T (p.Asn854=) c.2559C>T (p.Asn853=) c.2532C>T (p.Asn844=) c.2478C>T (p.Asn826=) c.2451C>T (p.Asn817=) c.2436C>T (p.Asn812=) c.2043C>T (p.Asn681=) c.2505C>T (p.Asn835=) c.2442C>T (p.Asn814=) c.2439C>T (p.Asn813=) c.2397C>T (p.Asn799=) c.1470C>T (p.Asn490=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406809G>C | CA409637010 | KCNQ2 | c.2508C>G (p.Asn836Lys) c.2454C>G (p.Asn818Lys) c.1851C>G (p.Asn617Lys) c.2361C>G (p.Asn787Lys) c.2022C>G (p.Asn674Lys) c.2370C>G (p.Asn790Lys) c.2241+237C>G (n.2241+237C>G) c.2205+237C>G (n.2205+237C>G) c.2400C>G (p.Asn800Lys) c.2133+237C>G (n.2133+237C>G) c.1680-5966C>G (n.1680-5966C>G) c.2496C>G (p.Asn832Lys) c.2562C>G (p.Asn854Lys) c.2559C>G (p.Asn853Lys) c.2532C>G (p.Asn844Lys) c.2478C>G (p.Asn826Lys) c.2451C>G (p.Asn817Lys) c.2436C>G (p.Asn812Lys) c.2043C>G (p.Asn681Lys) c.2505C>G (p.Asn835Lys) c.2442C>G (p.Asn814Lys) c.2439C>G (p.Asn813Lys) c.2397C>G (p.Asn799Lys) c.1470C>G (p.Asn490Lys) | gnomAD v4 |
20 | g.63406809G= | CA2374774255 | KCNQ2 | c.2508C= (p.Asn836=) c.2454C= (p.Asn818=) c.1851C= (p.Asn617=) c.2361C= (p.Asn787=) c.2022C= (p.Asn674=) c.2370C= (p.Asn790=) c.2241+237C= (n.2241+237C=) c.2205+237C= (n.2205+237C=) c.2400C= (p.Asn800=) c.2133+237C= (n.2133+237C=) c.1680-5966C= (n.1680-5966C=) c.2496C= (p.Asn832=) c.2562C= (p.Asn854=) c.2559C= (p.Asn853=) c.2532C= (p.Asn844=) c.2478C= (p.Asn826=) c.2451C= (p.Asn817=) c.2436C= (p.Asn812=) c.2043C= (p.Asn681=) c.2505C= (p.Asn835=) c.2442C= (p.Asn814=) c.2439C= (p.Asn813=) c.2397C= (p.Asn799=) c.1470C= (p.Asn490=) | |
20 | g.63406809G>T | CA409637012 | KCNQ2 | c.2508C>A (p.Asn836Lys) c.2454C>A (p.Asn818Lys) c.1851C>A (p.Asn617Lys) c.2361C>A (p.Asn787Lys) c.2022C>A (p.Asn674Lys) c.2370C>A (p.Asn790Lys) c.2241+237C>A (n.2241+237C>A) c.2205+237C>A (n.2205+237C>A) c.2400C>A (p.Asn800Lys) c.2133+237C>A (n.2133+237C>A) c.1680-5966C>A (n.1680-5966C>A) c.2496C>A (p.Asn832Lys) c.2562C>A (p.Asn854Lys) c.2559C>A (p.Asn853Lys) c.2532C>A (p.Asn844Lys) c.2478C>A (p.Asn826Lys) c.2451C>A (p.Asn817Lys) c.2436C>A (p.Asn812Lys) c.2043C>A (p.Asn681Lys) c.2505C>A (p.Asn835Lys) c.2442C>A (p.Asn814Lys) c.2439C>A (p.Asn813Lys) c.2397C>A (p.Asn799Lys) c.1470C>A (p.Asn490Lys) | |
20 | g.63406810T>A | CA409637017 | KCNQ2 | c.2507A>T (p.Asn836Ile) c.2453A>T (p.Asn818Ile) c.1850A>T (p.Asn617Ile) c.2360A>T (p.Asn787Ile) c.2021A>T (p.Asn674Ile) c.2369A>T (p.Asn790Ile) c.2241+236A>T (n.2241+236A>T) c.2205+236A>T (n.2205+236A>T) c.2399A>T (p.Asn800Ile) c.2133+236A>T (n.2133+236A>T) c.1680-5967A>T (n.1680-5967A>T) c.2495A>T (p.Asn832Ile) c.2561A>T (p.Asn854Ile) c.2558A>T (p.Asn853Ile) c.2531A>T (p.Asn844Ile) c.2477A>T (p.Asn826Ile) c.2450A>T (p.Asn817Ile) c.2435A>T (p.Asn812Ile) c.2042A>T (p.Asn681Ile) c.2504A>T (p.Asn835Ile) c.2441A>T (p.Asn814Ile) c.2438A>T (p.Asn813Ile) c.2396A>T (p.Asn799Ile) c.1469A>T (p.Asn490Ile) | |
20 | g.63406810T>C | CA409637015 | KCNQ2 | c.2507A>G (p.Asn836Ser) c.2453A>G (p.Asn818Ser) c.1850A>G (p.Asn617Ser) c.2360A>G (p.Asn787Ser) c.2021A>G (p.Asn674Ser) c.2369A>G (p.Asn790Ser) c.2241+236A>G (n.2241+236A>G) c.2205+236A>G (n.2205+236A>G) c.2399A>G (p.Asn800Ser) c.2133+236A>G (n.2133+236A>G) c.1680-5967A>G (n.1680-5967A>G) c.2495A>G (p.Asn832Ser) c.2561A>G (p.Asn854Ser) c.2558A>G (p.Asn853Ser) c.2531A>G (p.Asn844Ser) c.2477A>G (p.Asn826Ser) c.2450A>G (p.Asn817Ser) c.2435A>G (p.Asn812Ser) c.2042A>G (p.Asn681Ser) c.2504A>G (p.Asn835Ser) c.2441A>G (p.Asn814Ser) c.2438A>G (p.Asn813Ser) c.2396A>G (p.Asn799Ser) c.1469A>G (p.Asn490Ser) | |
20 | g.63406810T>G | CA409637014 | KCNQ2 | c.2507A>C (p.Asn836Thr) c.2453A>C (p.Asn818Thr) c.1850A>C (p.Asn617Thr) c.2360A>C (p.Asn787Thr) c.2021A>C (p.Asn674Thr) c.2369A>C (p.Asn790Thr) c.2241+236A>C (n.2241+236A>C) c.2205+236A>C (n.2205+236A>C) c.2399A>C (p.Asn800Thr) c.2133+236A>C (n.2133+236A>C) c.1680-5967A>C (n.1680-5967A>C) c.2495A>C (p.Asn832Thr) c.2561A>C (p.Asn854Thr) c.2558A>C (p.Asn853Thr) c.2531A>C (p.Asn844Thr) c.2477A>C (p.Asn826Thr) c.2450A>C (p.Asn817Thr) c.2435A>C (p.Asn812Thr) c.2042A>C (p.Asn681Thr) c.2504A>C (p.Asn835Thr) c.2441A>C (p.Asn814Thr) c.2438A>C (p.Asn813Thr) c.2396A>C (p.Asn799Thr) c.1469A>C (p.Asn490Thr) | |
20 | g.63406811T>A | CA409637018 | KCNQ2 | c.2506A>T (p.Asn836Tyr) c.2452A>T (p.Asn818Tyr) c.1849A>T (p.Asn617Tyr) c.2359A>T (p.Asn787Tyr) c.2020A>T (p.Asn674Tyr) c.2368A>T (p.Asn790Tyr) c.2241+235A>T (n.2241+235A>T) c.2205+235A>T (n.2205+235A>T) c.2398A>T (p.Asn800Tyr) c.2133+235A>T (n.2133+235A>T) c.1680-5968A>T (n.1680-5968A>T) c.2494A>T (p.Asn832Tyr) c.2560A>T (p.Asn854Tyr) c.2557A>T (p.Asn853Tyr) c.2530A>T (p.Asn844Tyr) c.2476A>T (p.Asn826Tyr) c.2449A>T (p.Asn817Tyr) c.2434A>T (p.Asn812Tyr) c.2041A>T (p.Asn681Tyr) c.2503A>T (p.Asn835Tyr) c.2440A>T (p.Asn814Tyr) c.2437A>T (p.Asn813Tyr) c.2395A>T (p.Asn799Tyr) c.1468A>T (p.Asn490Tyr) | |
20 | g.63406811T>C | CA409637020 | KCNQ2 | c.2506A>G (p.Asn836Asp) c.2452A>G (p.Asn818Asp) c.1849A>G (p.Asn617Asp) c.2359A>G (p.Asn787Asp) c.2020A>G (p.Asn674Asp) c.2368A>G (p.Asn790Asp) c.2241+235A>G (n.2241+235A>G) c.2205+235A>G (n.2205+235A>G) c.2398A>G (p.Asn800Asp) c.2133+235A>G (n.2133+235A>G) c.1680-5968A>G (n.1680-5968A>G) c.2494A>G (p.Asn832Asp) c.2560A>G (p.Asn854Asp) c.2557A>G (p.Asn853Asp) c.2530A>G (p.Asn844Asp) c.2476A>G (p.Asn826Asp) c.2449A>G (p.Asn817Asp) c.2434A>G (p.Asn812Asp) c.2041A>G (p.Asn681Asp) c.2503A>G (p.Asn835Asp) c.2440A>G (p.Asn814Asp) c.2437A>G (p.Asn813Asp) c.2395A>G (p.Asn799Asp) c.1468A>G (p.Asn490Asp) | |
20 | g.63406811T>G | CA409637022 | KCNQ2 | c.2506A>C (p.Asn836His) c.2452A>C (p.Asn818His) c.1849A>C (p.Asn617His) c.2359A>C (p.Asn787His) c.2020A>C (p.Asn674His) c.2368A>C (p.Asn790His) c.2241+235A>C (n.2241+235A>C) c.2205+235A>C (n.2205+235A>C) c.2398A>C (p.Asn800His) c.2133+235A>C (n.2133+235A>C) c.1680-5968A>C (n.1680-5968A>C) c.2494A>C (p.Asn832His) c.2560A>C (p.Asn854His) c.2557A>C (p.Asn853His) c.2530A>C (p.Asn844His) c.2476A>C (p.Asn826His) c.2449A>C (p.Asn817His) c.2434A>C (p.Asn812His) c.2041A>C (p.Asn681His) c.2503A>C (p.Asn835His) c.2440A>C (p.Asn814His) c.2437A>C (p.Asn813His) c.2395A>C (p.Asn799His) c.1468A>C (p.Asn490His) | gnomAD v4 |
20 | g.63406812G>A | CA511339340 | KCNQ2 | c.2505C>T (p.Leu835=) c.2451C>T (p.Leu817=) c.1848C>T (p.Leu616=) c.2358C>T (p.Leu786=) c.2019C>T (p.Leu673=) c.2367C>T (p.Leu789=) c.2241+234C>T (n.2241+234C>T) c.2205+234C>T (n.2205+234C>T) c.2397C>T (p.Leu799=) c.2133+234C>T (n.2133+234C>T) c.1680-5969C>T (n.1680-5969C>T) c.2493C>T (p.Leu831=) c.2559C>T (p.Leu853=) c.2556C>T (p.Leu852=) c.2529C>T (p.Leu843=) c.2475C>T (p.Leu825=) c.2448C>T (p.Leu816=) c.2433C>T (p.Leu811=) c.2040C>T (p.Leu680=) c.2502C>T (p.Leu834=) c.2439C>T (p.Leu813=) c.2436C>T (p.Leu812=) c.2394C>T (p.Leu798=) c.1467C>T (p.Leu489=) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63406812G>C | CA511339341 | KCNQ2 | c.2505C>G (p.Leu835=) c.2451C>G (p.Leu817=) c.1848C>G (p.Leu616=) c.2358C>G (p.Leu786=) c.2019C>G (p.Leu673=) c.2367C>G (p.Leu789=) c.2241+234C>G (n.2241+234C>G) c.2205+234C>G (n.2205+234C>G) c.2397C>G (p.Leu799=) c.2133+234C>G (n.2133+234C>G) c.1680-5969C>G (n.1680-5969C>G) c.2493C>G (p.Leu831=) c.2559C>G (p.Leu853=) c.2556C>G (p.Leu852=) c.2529C>G (p.Leu843=) c.2475C>G (p.Leu825=) c.2448C>G (p.Leu816=) c.2433C>G (p.Leu811=) c.2040C>G (p.Leu680=) c.2502C>G (p.Leu834=) c.2439C>G (p.Leu813=) c.2436C>G (p.Leu812=) c.2394C>G (p.Leu798=) c.1467C>G (p.Leu489=) | |
20 | g.63406812G= | CA2374774256 | KCNQ2 | c.2505C= (p.Leu835=) c.2451C= (p.Leu817=) c.1848C= (p.Leu616=) c.2358C= (p.Leu786=) c.2019C= (p.Leu673=) c.2367C= (p.Leu789=) c.2241+234C= (n.2241+234C=) c.2205+234C= (n.2205+234C=) c.2397C= (p.Leu799=) c.2133+234C= (n.2133+234C=) c.1680-5969C= (n.1680-5969C=) c.2493C= (p.Leu831=) c.2559C= (p.Leu853=) c.2556C= (p.Leu852=) c.2529C= (p.Leu843=) c.2475C= (p.Leu825=) c.2448C= (p.Leu816=) c.2433C= (p.Leu811=) c.2040C= (p.Leu680=) c.2502C= (p.Leu834=) c.2439C= (p.Leu813=) c.2436C= (p.Leu812=) c.2394C= (p.Leu798=) c.1467C= (p.Leu489=) | |
20 | g.63406812G>T | CA511339344 | KCNQ2 | c.2505C>A (p.Leu835=) c.2451C>A (p.Leu817=) c.1848C>A (p.Leu616=) c.2358C>A (p.Leu786=) c.2019C>A (p.Leu673=) c.2367C>A (p.Leu789=) c.2241+234C>A (n.2241+234C>A) c.2205+234C>A (n.2205+234C>A) c.2397C>A (p.Leu799=) c.2133+234C>A (n.2133+234C>A) c.1680-5969C>A (n.1680-5969C>A) c.2493C>A (p.Leu831=) c.2559C>A (p.Leu853=) c.2556C>A (p.Leu852=) c.2529C>A (p.Leu843=) c.2475C>A (p.Leu825=) c.2448C>A (p.Leu816=) c.2433C>A (p.Leu811=) c.2040C>A (p.Leu680=) c.2502C>A (p.Leu834=) c.2439C>A (p.Leu813=) c.2436C>A (p.Leu812=) c.2394C>A (p.Leu798=) c.1467C>A (p.Leu489=) | |
20 | g.63406813A= | CA2374774257 | KCNQ2 | c.2504T= (p.Leu835=) c.2450T= (p.Leu817=) c.1847T= (p.Leu616=) c.2357T= (p.Leu786=) c.2018T= (p.Leu673=) c.2366T= (p.Leu789=) c.2241+233T= (n.2241+233T=) c.2205+233T= (n.2205+233T=) c.2396T= (p.Leu799=) c.2133+233T= (n.2133+233T=) c.1680-5970T= (n.1680-5970T=) c.2492T= (p.Leu831=) c.2558T= (p.Leu853=) c.2555T= (p.Leu852=) c.2528T= (p.Leu843=) c.2474T= (p.Leu825=) c.2447T= (p.Leu816=) c.2432T= (p.Leu811=) c.2039T= (p.Leu680=) c.2501T= (p.Leu834=) c.2438T= (p.Leu813=) c.2435T= (p.Leu812=) c.2393T= (p.Leu798=) c.1466T= (p.Leu489=) | |
20 | g.63406813A>C | CA409637024 | KCNQ2 | c.2504T>G (p.Leu835Arg) c.2450T>G (p.Leu817Arg) c.1847T>G (p.Leu616Arg) c.2357T>G (p.Leu786Arg) c.2018T>G (p.Leu673Arg) c.2366T>G (p.Leu789Arg) c.2241+233T>G (n.2241+233T>G) c.2205+233T>G (n.2205+233T>G) c.2396T>G (p.Leu799Arg) c.2133+233T>G (n.2133+233T>G) c.1680-5970T>G (n.1680-5970T>G) c.2492T>G (p.Leu831Arg) c.2558T>G (p.Leu853Arg) c.2555T>G (p.Leu852Arg) c.2528T>G (p.Leu843Arg) c.2474T>G (p.Leu825Arg) c.2447T>G (p.Leu816Arg) c.2432T>G (p.Leu811Arg) c.2039T>G (p.Leu680Arg) c.2501T>G (p.Leu834Arg) c.2438T>G (p.Leu813Arg) c.2435T>G (p.Leu812Arg) c.2393T>G (p.Leu798Arg) c.1466T>G (p.Leu489Arg) | |
20 | g.63406813A>G | CA409637026 | KCNQ2 | c.2504T>C (p.Leu835Pro) c.2450T>C (p.Leu817Pro) c.1847T>C (p.Leu616Pro) c.2357T>C (p.Leu786Pro) c.2018T>C (p.Leu673Pro) c.2366T>C (p.Leu789Pro) c.2241+233T>C (n.2241+233T>C) c.2205+233T>C (n.2205+233T>C) c.2396T>C (p.Leu799Pro) c.2133+233T>C (n.2133+233T>C) c.1680-5970T>C (n.1680-5970T>C) c.2492T>C (p.Leu831Pro) c.2558T>C (p.Leu853Pro) c.2555T>C (p.Leu852Pro) c.2528T>C (p.Leu843Pro) c.2474T>C (p.Leu825Pro) c.2447T>C (p.Leu816Pro) c.2432T>C (p.Leu811Pro) c.2039T>C (p.Leu680Pro) c.2501T>C (p.Leu834Pro) c.2438T>C (p.Leu813Pro) c.2435T>C (p.Leu812Pro) c.2393T>C (p.Leu798Pro) c.1466T>C (p.Leu489Pro) | dbSNP |
20 | g.63406813A>T | CA409637028 | KCNQ2 | c.2504T>A (p.Leu835His) c.2450T>A (p.Leu817His) c.1847T>A (p.Leu616His) c.2357T>A (p.Leu786His) c.2018T>A (p.Leu673His) c.2366T>A (p.Leu789His) c.2241+233T>A (n.2241+233T>A) c.2205+233T>A (n.2205+233T>A) c.2396T>A (p.Leu799His) c.2133+233T>A (n.2133+233T>A) c.1680-5970T>A (n.1680-5970T>A) c.2492T>A (p.Leu831His) c.2558T>A (p.Leu853His) c.2555T>A (p.Leu852His) c.2528T>A (p.Leu843His) c.2474T>A (p.Leu825His) c.2447T>A (p.Leu816His) c.2432T>A (p.Leu811His) c.2039T>A (p.Leu680His) c.2501T>A (p.Leu834His) c.2438T>A (p.Leu813His) c.2435T>A (p.Leu812His) c.2393T>A (p.Leu798His) c.1466T>A (p.Leu489His) | |
20 | g.63406814G>A | CA409637031 | KCNQ2 | c.2503C>T (p.Leu835Phe) c.2449C>T (p.Leu817Phe) c.1846C>T (p.Leu616Phe) c.2356C>T (p.Leu786Phe) c.2017C>T (p.Leu673Phe) c.2365C>T (p.Leu789Phe) c.2241+232C>T (n.2241+232C>T) c.2205+232C>T (n.2205+232C>T) c.2395C>T (p.Leu799Phe) c.2133+232C>T (n.2133+232C>T) c.1680-5971C>T (n.1680-5971C>T) c.2491C>T (p.Leu831Phe) c.2557C>T (p.Leu853Phe) c.2554C>T (p.Leu852Phe) c.2527C>T (p.Leu843Phe) c.2473C>T (p.Leu825Phe) c.2446C>T (p.Leu816Phe) c.2431C>T (p.Leu811Phe) c.2038C>T (p.Leu680Phe) c.2500C>T (p.Leu834Phe) c.2437C>T (p.Leu813Phe) c.2434C>T (p.Leu812Phe) c.2392C>T (p.Leu798Phe) c.1465C>T (p.Leu489Phe) | |
20 | g.63406814G>C | CA409637035 | KCNQ2 | c.2503C>G (p.Leu835Val) c.2449C>G (p.Leu817Val) c.1846C>G (p.Leu616Val) c.2356C>G (p.Leu786Val) c.2017C>G (p.Leu673Val) c.2365C>G (p.Leu789Val) c.2241+232C>G (n.2241+232C>G) c.2205+232C>G (n.2205+232C>G) c.2395C>G (p.Leu799Val) c.2133+232C>G (n.2133+232C>G) c.1680-5971C>G (n.1680-5971C>G) c.2491C>G (p.Leu831Val) c.2557C>G (p.Leu853Val) c.2554C>G (p.Leu852Val) c.2527C>G (p.Leu843Val) c.2473C>G (p.Leu825Val) c.2446C>G (p.Leu816Val) c.2431C>G (p.Leu811Val) c.2038C>G (p.Leu680Val) c.2500C>G (p.Leu834Val) c.2437C>G (p.Leu813Val) c.2434C>G (p.Leu812Val) c.2392C>G (p.Leu798Val) c.1465C>G (p.Leu489Val) | gnomAD v4 |
20 | g.63406814G>T | CA409637032 | KCNQ2 | c.2503C>A (p.Leu835Ile) c.2449C>A (p.Leu817Ile) c.1846C>A (p.Leu616Ile) c.2356C>A (p.Leu786Ile) c.2017C>A (p.Leu673Ile) c.2365C>A (p.Leu789Ile) c.2241+232C>A (n.2241+232C>A) c.2205+232C>A (n.2205+232C>A) c.2395C>A (p.Leu799Ile) c.2133+232C>A (n.2133+232C>A) c.1680-5971C>A (n.1680-5971C>A) c.2491C>A (p.Leu831Ile) c.2557C>A (p.Leu853Ile) c.2554C>A (p.Leu852Ile) c.2527C>A (p.Leu843Ile) c.2473C>A (p.Leu825Ile) c.2446C>A (p.Leu816Ile) c.2431C>A (p.Leu811Ile) c.2038C>A (p.Leu680Ile) c.2500C>A (p.Leu834Ile) c.2437C>A (p.Leu813Ile) c.2434C>A (p.Leu812Ile) c.2392C>A (p.Leu798Ile) c.1465C>A (p.Leu489Ile) | |
20 | g.63406815A>C | CA511339347 | KCNQ2 | c.2502T>G (p.Ala834=) c.2448T>G (p.Ala816=) c.1845T>G (p.Ala615=) c.2355T>G (p.Ala785=) c.2016T>G (p.Ala672=) c.2364T>G (p.Ala788=) c.2241+231T>G (n.2241+231T>G) c.2205+231T>G (n.2205+231T>G) c.2394T>G (p.Ala798=) c.2133+231T>G (n.2133+231T>G) c.1680-5972T>G (n.1680-5972T>G) c.2490T>G (p.Ala830=) c.2556T>G (p.Ala852=) c.2553T>G (p.Ala851=) c.2526T>G (p.Ala842=) c.2472T>G (p.Ala824=) c.2445T>G (p.Ala815=) c.2430T>G (p.Ala810=) c.2037T>G (p.Ala679=) c.2499T>G (p.Ala833=) c.2436T>G (p.Ala812=) c.2433T>G (p.Ala811=) c.2391T>G (p.Ala797=) c.1464T>G (p.Ala488=) | |
20 | g.63406815A>G | CA511339349 | KCNQ2 | c.2502T>C (p.Ala834=) c.2448T>C (p.Ala816=) c.1845T>C (p.Ala615=) c.2355T>C (p.Ala785=) c.2016T>C (p.Ala672=) c.2364T>C (p.Ala788=) c.2241+231T>C (n.2241+231T>C) c.2205+231T>C (n.2205+231T>C) c.2394T>C (p.Ala798=) c.2133+231T>C (n.2133+231T>C) c.1680-5972T>C (n.1680-5972T>C) c.2490T>C (p.Ala830=) c.2556T>C (p.Ala852=) c.2553T>C (p.Ala851=) c.2526T>C (p.Ala842=) c.2472T>C (p.Ala824=) c.2445T>C (p.Ala815=) c.2430T>C (p.Ala810=) c.2037T>C (p.Ala679=) c.2499T>C (p.Ala833=) c.2436T>C (p.Ala812=) c.2433T>C (p.Ala811=) c.2391T>C (p.Ala797=) c.1464T>C (p.Ala488=) | |
20 | g.63406815A>T | CA511339351 | KCNQ2 | c.2502T>A (p.Ala834=) c.2448T>A (p.Ala816=) c.1845T>A (p.Ala615=) c.2355T>A (p.Ala785=) c.2016T>A (p.Ala672=) c.2364T>A (p.Ala788=) c.2241+231T>A (n.2241+231T>A) c.2205+231T>A (n.2205+231T>A) c.2394T>A (p.Ala798=) c.2133+231T>A (n.2133+231T>A) c.1680-5972T>A (n.1680-5972T>A) c.2490T>A (p.Ala830=) c.2556T>A (p.Ala852=) c.2553T>A (p.Ala851=) c.2526T>A (p.Ala842=) c.2472T>A (p.Ala824=) c.2445T>A (p.Ala815=) c.2430T>A (p.Ala810=) c.2037T>A (p.Ala679=) c.2499T>A (p.Ala833=) c.2436T>A (p.Ala812=) c.2433T>A (p.Ala811=) c.2391T>A (p.Ala797=) c.1464T>A (p.Ala488=) | |
20 | g.63406816G>A | CA409637037 | KCNQ2 | c.2501C>T (p.Ala834Val) c.2447C>T (p.Ala816Val) c.1844C>T (p.Ala615Val) c.2354C>T (p.Ala785Val) c.2015C>T (p.Ala672Val) c.2363C>T (p.Ala788Val) c.2241+230C>T (n.2241+230C>T) c.2205+230C>T (n.2205+230C>T) c.2393C>T (p.Ala798Val) c.2133+230C>T (n.2133+230C>T) c.1680-5973C>T (n.1680-5973C>T) c.2489C>T (p.Ala830Val) c.2555C>T (p.Ala852Val) c.2552C>T (p.Ala851Val) c.2525C>T (p.Ala842Val) c.2471C>T (p.Ala824Val) c.2444C>T (p.Ala815Val) c.2429C>T (p.Ala810Val) c.2036C>T (p.Ala679Val) c.2498C>T (p.Ala833Val) c.2435C>T (p.Ala812Val) c.2432C>T (p.Ala811Val) c.2390C>T (p.Ala797Val) c.1463C>T (p.Ala488Val) | gnomAD v4 |
20 | g.63406816G>C | CA409637038 | KCNQ2 | c.2501C>G (p.Ala834Gly) c.2447C>G (p.Ala816Gly) c.1844C>G (p.Ala615Gly) c.2354C>G (p.Ala785Gly) c.2015C>G (p.Ala672Gly) c.2363C>G (p.Ala788Gly) c.2241+230C>G (n.2241+230C>G) c.2205+230C>G (n.2205+230C>G) c.2393C>G (p.Ala798Gly) c.2133+230C>G (n.2133+230C>G) c.1680-5973C>G (n.1680-5973C>G) c.2489C>G (p.Ala830Gly) c.2555C>G (p.Ala852Gly) c.2552C>G (p.Ala851Gly) c.2525C>G (p.Ala842Gly) c.2471C>G (p.Ala824Gly) c.2444C>G (p.Ala815Gly) c.2429C>G (p.Ala810Gly) c.2036C>G (p.Ala679Gly) c.2498C>G (p.Ala833Gly) c.2435C>G (p.Ala812Gly) c.2432C>G (p.Ala811Gly) c.2390C>G (p.Ala797Gly) c.1463C>G (p.Ala488Gly) | |
20 | g.63406816G>T | CA409637040 | KCNQ2 | c.2501C>A (p.Ala834Asp) c.2447C>A (p.Ala816Asp) c.1844C>A (p.Ala615Asp) c.2354C>A (p.Ala785Asp) c.2015C>A (p.Ala672Asp) c.2363C>A (p.Ala788Asp) c.2241+230C>A (n.2241+230C>A) c.2205+230C>A (n.2205+230C>A) c.2393C>A (p.Ala798Asp) c.2133+230C>A (n.2133+230C>A) c.1680-5973C>A (n.1680-5973C>A) c.2489C>A (p.Ala830Asp) c.2555C>A (p.Ala852Asp) c.2552C>A (p.Ala851Asp) c.2525C>A (p.Ala842Asp) c.2471C>A (p.Ala824Asp) c.2444C>A (p.Ala815Asp) c.2429C>A (p.Ala810Asp) c.2036C>A (p.Ala679Asp) c.2498C>A (p.Ala833Asp) c.2435C>A (p.Ala812Asp) c.2432C>A (p.Ala811Asp) c.2390C>A (p.Ala797Asp) c.1463C>A (p.Ala488Asp) | |
20 | g.63406817C>A | CA409637042 | KCNQ2 | c.2500G>T (p.Ala834Ser) c.2446G>T (p.Ala816Ser) c.1843G>T (p.Ala615Ser) c.2353G>T (p.Ala785Ser) c.2014G>T (p.Ala672Ser) c.2362G>T (p.Ala788Ser) c.2241+229G>T (n.2241+229G>T) c.2205+229G>T (n.2205+229G>T) c.2392G>T (p.Ala798Ser) c.2133+229G>T (n.2133+229G>T) c.1680-5974G>T (n.1680-5974G>T) c.2488G>T (p.Ala830Ser) c.2554G>T (p.Ala852Ser) c.2551G>T (p.Ala851Ser) c.2524G>T (p.Ala842Ser) c.2470G>T (p.Ala824Ser) c.2443G>T (p.Ala815Ser) c.2428G>T (p.Ala810Ser) c.2035G>T (p.Ala679Ser) c.2497G>T (p.Ala833Ser) c.2434G>T (p.Ala812Ser) c.2431G>T (p.Ala811Ser) c.2389G>T (p.Ala797Ser) c.1462G>T (p.Ala488Ser) | ClinVar dbSNP gnomAD v4 |
20 | g.63406817C= | CA2374774258 | KCNQ2 | c.2500G= (p.Ala834=) c.2446G= (p.Ala816=) c.1843G= (p.Ala615=) c.2353G= (p.Ala785=) c.2014G= (p.Ala672=) c.2362G= (p.Ala788=) c.2241+229G= (n.2241+229G=) c.2205+229G= (n.2205+229G=) c.2392G= (p.Ala798=) c.2133+229G= (n.2133+229G=) c.1680-5974G= (n.1680-5974G=) c.2488G= (p.Ala830=) c.2554G= (p.Ala852=) c.2551G= (p.Ala851=) c.2524G= (p.Ala842=) c.2470G= (p.Ala824=) c.2443G= (p.Ala815=) c.2428G= (p.Ala810=) c.2035G= (p.Ala679=) c.2497G= (p.Ala833=) c.2434G= (p.Ala812=) c.2431G= (p.Ala811=) c.2389G= (p.Ala797=) c.1462G= (p.Ala488=) | |
20 | g.63406817C>G | CA409637043 | KCNQ2 | c.2500G>C (p.Ala834Pro) c.2446G>C (p.Ala816Pro) c.1843G>C (p.Ala615Pro) c.2353G>C (p.Ala785Pro) c.2014G>C (p.Ala672Pro) c.2362G>C (p.Ala788Pro) c.2241+229G>C (n.2241+229G>C) c.2205+229G>C (n.2205+229G>C) c.2392G>C (p.Ala798Pro) c.2133+229G>C (n.2133+229G>C) c.1680-5974G>C (n.1680-5974G>C) c.2488G>C (p.Ala830Pro) c.2554G>C (p.Ala852Pro) c.2551G>C (p.Ala851Pro) c.2524G>C (p.Ala842Pro) c.2470G>C (p.Ala824Pro) c.2443G>C (p.Ala815Pro) c.2428G>C (p.Ala810Pro) c.2035G>C (p.Ala679Pro) c.2497G>C (p.Ala833Pro) c.2434G>C (p.Ala812Pro) c.2431G>C (p.Ala811Pro) c.2389G>C (p.Ala797Pro) c.1462G>C (p.Ala488Pro) | |
20 | g.63406817C>T | CA315528 | KCNQ2 | c.2500G>A (p.Ala834Thr) c.2446G>A (p.Ala816Thr) c.1843G>A (p.Ala615Thr) c.2353G>A (p.Ala785Thr) c.2014G>A (p.Ala672Thr) c.2362G>A (p.Ala788Thr) c.2241+229G>A (n.2241+229G>A) c.2205+229G>A (n.2205+229G>A) c.2392G>A (p.Ala798Thr) c.2133+229G>A (n.2133+229G>A) c.1680-5974G>A (n.1680-5974G>A) c.2488G>A (p.Ala830Thr) c.2554G>A (p.Ala852Thr) c.2551G>A (p.Ala851Thr) c.2524G>A (p.Ala842Thr) c.2470G>A (p.Ala824Thr) c.2443G>A (p.Ala815Thr) c.2428G>A (p.Ala810Thr) c.2035G>A (p.Ala679Thr) c.2497G>A (p.Ala833Thr) c.2434G>A (p.Ala812Thr) c.2431G>A (p.Ala811Thr) c.2389G>A (p.Ala797Thr) c.1462G>A (p.Ala488Thr) | ClinVar dbSNP |
20 | g.63406818A= | CA2374774259 | KCNQ2 | c.2499T= (p.Asp833=) c.2445T= (p.Asp815=) c.1842T= (p.Asp614=) c.2352T= (p.Asp784=) c.2013T= (p.Asp671=) c.2361T= (p.Asp787=) c.2241+228T= (n.2241+228T=) c.2205+228T= (n.2205+228T=) c.2391T= (p.Asp797=) c.2133+228T= (n.2133+228T=) c.1680-5975T= (n.1680-5975T=) c.2487T= (p.Asp829=) c.2553T= (p.Asp851=) c.2550T= (p.Asp850=) c.2523T= (p.Asp841=) c.2469T= (p.Asp823=) c.2442T= (p.Asp814=) c.2427T= (p.Asp809=) c.2034T= (p.Asp678=) c.2496T= (p.Asp832=) c.2433T= (p.Asp811=) c.2430T= (p.Asp810=) c.2388T= (p.Asp796=) c.1461T= (p.Asp487=) | |
20 | g.63406818A>C | CA317421733 | KCNQ2 | c.2499T>G (p.Asp833Glu) c.2445T>G (p.Asp815Glu) c.1842T>G (p.Asp614Glu) c.2352T>G (p.Asp784Glu) c.2013T>G (p.Asp671Glu) c.2361T>G (p.Asp787Glu) c.2241+228T>G (n.2241+228T>G) c.2205+228T>G (n.2205+228T>G) c.2391T>G (p.Asp797Glu) c.2133+228T>G (n.2133+228T>G) c.1680-5975T>G (n.1680-5975T>G) c.2487T>G (p.Asp829Glu) c.2553T>G (p.Asp851Glu) c.2550T>G (p.Asp850Glu) c.2523T>G (p.Asp841Glu) c.2469T>G (p.Asp823Glu) c.2442T>G (p.Asp814Glu) c.2427T>G (p.Asp809Glu) c.2034T>G (p.Asp678Glu) c.2496T>G (p.Asp832Glu) c.2433T>G (p.Asp811Glu) c.2430T>G (p.Asp810Glu) c.2388T>G (p.Asp796Glu) c.1461T>G (p.Asp487Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406818A>G | CA511339353 | KCNQ2 | c.2499T>C (p.Asp833=) c.2445T>C (p.Asp815=) c.1842T>C (p.Asp614=) c.2352T>C (p.Asp784=) c.2013T>C (p.Asp671=) c.2361T>C (p.Asp787=) c.2241+228T>C (n.2241+228T>C) c.2205+228T>C (n.2205+228T>C) c.2391T>C (p.Asp797=) c.2133+228T>C (n.2133+228T>C) c.1680-5975T>C (n.1680-5975T>C) c.2487T>C (p.Asp829=) c.2553T>C (p.Asp851=) c.2550T>C (p.Asp850=) c.2523T>C (p.Asp841=) c.2469T>C (p.Asp823=) c.2442T>C (p.Asp814=) c.2427T>C (p.Asp809=) c.2034T>C (p.Asp678=) c.2496T>C (p.Asp832=) c.2433T>C (p.Asp811=) c.2430T>C (p.Asp810=) c.2388T>C (p.Asp796=) c.1461T>C (p.Asp487=) | |
20 | g.63406818A>T | CA409637047 | KCNQ2 | c.2499T>A (p.Asp833Glu) c.2445T>A (p.Asp815Glu) c.1842T>A (p.Asp614Glu) c.2352T>A (p.Asp784Glu) c.2013T>A (p.Asp671Glu) c.2361T>A (p.Asp787Glu) c.2241+228T>A (n.2241+228T>A) c.2205+228T>A (n.2205+228T>A) c.2391T>A (p.Asp797Glu) c.2133+228T>A (n.2133+228T>A) c.1680-5975T>A (n.1680-5975T>A) c.2487T>A (p.Asp829Glu) c.2553T>A (p.Asp851Glu) c.2550T>A (p.Asp850Glu) c.2523T>A (p.Asp841Glu) c.2469T>A (p.Asp823Glu) c.2442T>A (p.Asp814Glu) c.2427T>A (p.Asp809Glu) c.2034T>A (p.Asp678Glu) c.2496T>A (p.Asp832Glu) c.2433T>A (p.Asp811Glu) c.2430T>A (p.Asp810Glu) c.2388T>A (p.Asp796Glu) c.1461T>A (p.Asp487Glu) | |
20 | g.63406819T>A | CA409637050 | KCNQ2 | c.2498A>T (p.Asp833Val) c.2444A>T (p.Asp815Val) c.1841A>T (p.Asp614Val) c.2351A>T (p.Asp784Val) c.2012A>T (p.Asp671Val) c.2360A>T (p.Asp787Val) c.2241+227A>T (n.2241+227A>T) c.2205+227A>T (n.2205+227A>T) c.2390A>T (p.Asp797Val) c.2133+227A>T (n.2133+227A>T) c.1680-5976A>T (n.1680-5976A>T) c.2486A>T (p.Asp829Val) c.2552A>T (p.Asp851Val) c.2549A>T (p.Asp850Val) c.2522A>T (p.Asp841Val) c.2468A>T (p.Asp823Val) c.2441A>T (p.Asp814Val) c.2426A>T (p.Asp809Val) c.2033A>T (p.Asp678Val) c.2495A>T (p.Asp832Val) c.2432A>T (p.Asp811Val) c.2429A>T (p.Asp810Val) c.2387A>T (p.Asp796Val) c.1460A>T (p.Asp487Val) | |
20 | g.63406819T>C | CA409637052 | KCNQ2 | c.2498A>G (p.Asp833Gly) c.2444A>G (p.Asp815Gly) c.1841A>G (p.Asp614Gly) c.2351A>G (p.Asp784Gly) c.2012A>G (p.Asp671Gly) c.2360A>G (p.Asp787Gly) c.2241+227A>G (n.2241+227A>G) c.2205+227A>G (n.2205+227A>G) c.2390A>G (p.Asp797Gly) c.2133+227A>G (n.2133+227A>G) c.1680-5976A>G (n.1680-5976A>G) c.2486A>G (p.Asp829Gly) c.2552A>G (p.Asp851Gly) c.2549A>G (p.Asp850Gly) c.2522A>G (p.Asp841Gly) c.2468A>G (p.Asp823Gly) c.2441A>G (p.Asp814Gly) c.2426A>G (p.Asp809Gly) c.2033A>G (p.Asp678Gly) c.2495A>G (p.Asp832Gly) c.2432A>G (p.Asp811Gly) c.2429A>G (p.Asp810Gly) c.2387A>G (p.Asp796Gly) c.1460A>G (p.Asp487Gly) | |
20 | g.63406819T>G | CA409637054 | KCNQ2 | c.2498A>C (p.Asp833Ala) c.2444A>C (p.Asp815Ala) c.1841A>C (p.Asp614Ala) c.2351A>C (p.Asp784Ala) c.2012A>C (p.Asp671Ala) c.2360A>C (p.Asp787Ala) c.2241+227A>C (n.2241+227A>C) c.2205+227A>C (n.2205+227A>C) c.2390A>C (p.Asp797Ala) c.2133+227A>C (n.2133+227A>C) c.1680-5976A>C (n.1680-5976A>C) c.2486A>C (p.Asp829Ala) c.2552A>C (p.Asp851Ala) c.2549A>C (p.Asp850Ala) c.2522A>C (p.Asp841Ala) c.2468A>C (p.Asp823Ala) c.2441A>C (p.Asp814Ala) c.2426A>C (p.Asp809Ala) c.2033A>C (p.Asp678Ala) c.2495A>C (p.Asp832Ala) c.2432A>C (p.Asp811Ala) c.2429A>C (p.Asp810Ala) c.2387A>C (p.Asp796Ala) c.1460A>C (p.Asp487Ala) | |
20 | g.63406820C>A | CA409637056 | KCNQ2 | c.2497G>T (p.Asp833Tyr) c.2443G>T (p.Asp815Tyr) c.1840G>T (p.Asp614Tyr) c.2350G>T (p.Asp784Tyr) c.2011G>T (p.Asp671Tyr) c.2359G>T (p.Asp787Tyr) c.2241+226G>T (n.2241+226G>T) c.2205+226G>T (n.2205+226G>T) c.2389G>T (p.Asp797Tyr) c.2133+226G>T (n.2133+226G>T) c.1680-5977G>T (n.1680-5977G>T) c.2485G>T (p.Asp829Tyr) c.2551G>T (p.Asp851Tyr) c.2548G>T (p.Asp850Tyr) c.2521G>T (p.Asp841Tyr) c.2467G>T (p.Asp823Tyr) c.2440G>T (p.Asp814Tyr) c.2425G>T (p.Asp809Tyr) c.2032G>T (p.Asp678Tyr) c.2494G>T (p.Asp832Tyr) c.2431G>T (p.Asp811Tyr) c.2428G>T (p.Asp810Tyr) c.2386G>T (p.Asp796Tyr) c.1459G>T (p.Asp487Tyr) | |
20 | g.63406820C>G | CA409637059 | KCNQ2 | c.2497G>C (p.Asp833His) c.2443G>C (p.Asp815His) c.1840G>C (p.Asp614His) c.2350G>C (p.Asp784His) c.2011G>C (p.Asp671His) c.2359G>C (p.Asp787His) c.2241+226G>C (n.2241+226G>C) c.2205+226G>C (n.2205+226G>C) c.2389G>C (p.Asp797His) c.2133+226G>C (n.2133+226G>C) c.1680-5977G>C (n.1680-5977G>C) c.2485G>C (p.Asp829His) c.2551G>C (p.Asp851His) c.2548G>C (p.Asp850His) c.2521G>C (p.Asp841His) c.2467G>C (p.Asp823His) c.2440G>C (p.Asp814His) c.2425G>C (p.Asp809His) c.2032G>C (p.Asp678His) c.2494G>C (p.Asp832His) c.2431G>C (p.Asp811His) c.2428G>C (p.Asp810His) c.2386G>C (p.Asp796His) c.1459G>C (p.Asp487His) | |
20 | g.63406820C>T | CA409637057 | KCNQ2 | c.2497G>A (p.Asp833Asn) c.2443G>A (p.Asp815Asn) c.1840G>A (p.Asp614Asn) c.2350G>A (p.Asp784Asn) c.2011G>A (p.Asp671Asn) c.2359G>A (p.Asp787Asn) c.2241+226G>A (n.2241+226G>A) c.2205+226G>A (n.2205+226G>A) c.2389G>A (p.Asp797Asn) c.2133+226G>A (n.2133+226G>A) c.1680-5977G>A (n.1680-5977G>A) c.2485G>A (p.Asp829Asn) c.2551G>A (p.Asp851Asn) c.2548G>A (p.Asp850Asn) c.2521G>A (p.Asp841Asn) c.2467G>A (p.Asp823Asn) c.2440G>A (p.Asp814Asn) c.2425G>A (p.Asp809Asn) c.2032G>A (p.Asp678Asn) c.2494G>A (p.Asp832Asn) c.2431G>A (p.Asp811Asn) c.2428G>A (p.Asp810Asn) c.2386G>A (p.Asp796Asn) c.1459G>A (p.Asp487Asn) | |
20 | g.63406821C>A | CA511339360 | KCNQ2 | c.2496G>T (p.Leu832=) c.2442G>T (p.Leu814=) c.1839G>T (p.Leu613=) c.2349G>T (p.Leu783=) c.2010G>T (p.Leu670=) c.2358G>T (p.Leu786=) c.2241+225G>T (n.2241+225G>T) c.2205+225G>T (n.2205+225G>T) c.2388G>T (p.Leu796=) c.2133+225G>T (n.2133+225G>T) c.1680-5978G>T (n.1680-5978G>T) c.2484G>T (p.Leu828=) c.2550G>T (p.Leu850=) c.2547G>T (p.Leu849=) c.2520G>T (p.Leu840=) c.2466G>T (p.Leu822=) c.2439G>T (p.Leu813=) c.2424G>T (p.Leu808=) c.2031G>T (p.Leu677=) c.2493G>T (p.Leu831=) c.2430G>T (p.Leu810=) c.2427G>T (p.Leu809=) c.2385G>T (p.Leu795=) c.1458G>T (p.Leu486=) | |
20 | g.63406821C>G | CA511339363 | KCNQ2 | c.2496G>C (p.Leu832=) c.2442G>C (p.Leu814=) c.1839G>C (p.Leu613=) c.2349G>C (p.Leu783=) c.2010G>C (p.Leu670=) c.2358G>C (p.Leu786=) c.2241+225G>C (n.2241+225G>C) c.2205+225G>C (n.2205+225G>C) c.2388G>C (p.Leu796=) c.2133+225G>C (n.2133+225G>C) c.1680-5978G>C (n.1680-5978G>C) c.2484G>C (p.Leu828=) c.2550G>C (p.Leu850=) c.2547G>C (p.Leu849=) c.2520G>C (p.Leu840=) c.2466G>C (p.Leu822=) c.2439G>C (p.Leu813=) c.2424G>C (p.Leu808=) c.2031G>C (p.Leu677=) c.2493G>C (p.Leu831=) c.2430G>C (p.Leu810=) c.2427G>C (p.Leu809=) c.2385G>C (p.Leu795=) c.1458G>C (p.Leu486=) | |
20 | g.63406821C>T | CA511339362 | KCNQ2 | c.2496G>A (p.Leu832=) c.2442G>A (p.Leu814=) c.1839G>A (p.Leu613=) c.2349G>A (p.Leu783=) c.2010G>A (p.Leu670=) c.2358G>A (p.Leu786=) c.2241+225G>A (n.2241+225G>A) c.2205+225G>A (n.2205+225G>A) c.2388G>A (p.Leu796=) c.2133+225G>A (n.2133+225G>A) c.1680-5978G>A (n.1680-5978G>A) c.2484G>A (p.Leu828=) c.2550G>A (p.Leu850=) c.2547G>A (p.Leu849=) c.2520G>A (p.Leu840=) c.2466G>A (p.Leu822=) c.2439G>A (p.Leu813=) c.2424G>A (p.Leu808=) c.2031G>A (p.Leu677=) c.2493G>A (p.Leu831=) c.2430G>A (p.Leu810=) c.2427G>A (p.Leu809=) c.2385G>A (p.Leu795=) c.1458G>A (p.Leu486=) | |
20 | g.63406822A= | CA2374774260 | KCNQ2 | c.2495T= (p.Leu832=) c.2441T= (p.Leu814=) c.1838T= (p.Leu613=) c.2348T= (p.Leu783=) c.2009T= (p.Leu670=) c.2357T= (p.Leu786=) c.2241+224T= (n.2241+224T=) c.2205+224T= (n.2205+224T=) c.2387T= (p.Leu796=) c.2133+224T= (n.2133+224T=) c.1680-5979T= (n.1680-5979T=) c.2483T= (p.Leu828=) c.2549T= (p.Leu850=) c.2546T= (p.Leu849=) c.2519T= (p.Leu840=) c.2465T= (p.Leu822=) c.2438T= (p.Leu813=) c.2423T= (p.Leu808=) c.2030T= (p.Leu677=) c.2492T= (p.Leu831=) c.2429T= (p.Leu810=) c.2426T= (p.Leu809=) c.2384T= (p.Leu795=) c.1457T= (p.Leu486=) | |
20 | g.63406822A>C | CA317421739 | KCNQ2 | c.2495T>G (p.Leu832Arg) c.2441T>G (p.Leu814Arg) c.1838T>G (p.Leu613Arg) c.2348T>G (p.Leu783Arg) c.2009T>G (p.Leu670Arg) c.2357T>G (p.Leu786Arg) c.2241+224T>G (n.2241+224T>G) c.2205+224T>G (n.2205+224T>G) c.2387T>G (p.Leu796Arg) c.2133+224T>G (n.2133+224T>G) c.1680-5979T>G (n.1680-5979T>G) c.2483T>G (p.Leu828Arg) c.2549T>G (p.Leu850Arg) c.2546T>G (p.Leu849Arg) c.2519T>G (p.Leu840Arg) c.2465T>G (p.Leu822Arg) c.2438T>G (p.Leu813Arg) c.2423T>G (p.Leu808Arg) c.2030T>G (p.Leu677Arg) c.2492T>G (p.Leu831Arg) c.2429T>G (p.Leu810Arg) c.2426T>G (p.Leu809Arg) c.2384T>G (p.Leu795Arg) c.1457T>G (p.Leu486Arg) | dbSNP |
20 | g.63406822A>G | CA409637062 | KCNQ2 | c.2495T>C (p.Leu832Pro) c.2441T>C (p.Leu814Pro) c.1838T>C (p.Leu613Pro) c.2348T>C (p.Leu783Pro) c.2009T>C (p.Leu670Pro) c.2357T>C (p.Leu786Pro) c.2241+224T>C (n.2241+224T>C) c.2205+224T>C (n.2205+224T>C) c.2387T>C (p.Leu796Pro) c.2133+224T>C (n.2133+224T>C) c.1680-5979T>C (n.1680-5979T>C) c.2483T>C (p.Leu828Pro) c.2549T>C (p.Leu850Pro) c.2546T>C (p.Leu849Pro) c.2519T>C (p.Leu840Pro) c.2465T>C (p.Leu822Pro) c.2438T>C (p.Leu813Pro) c.2423T>C (p.Leu808Pro) c.2030T>C (p.Leu677Pro) c.2492T>C (p.Leu831Pro) c.2429T>C (p.Leu810Pro) c.2426T>C (p.Leu809Pro) c.2384T>C (p.Leu795Pro) c.1457T>C (p.Leu486Pro) | |
20 | g.63406822A>T | CA409637064 | KCNQ2 | c.2495T>A (p.Leu832Gln) c.2441T>A (p.Leu814Gln) c.1838T>A (p.Leu613Gln) c.2348T>A (p.Leu783Gln) c.2009T>A (p.Leu670Gln) c.2357T>A (p.Leu786Gln) c.2241+224T>A (n.2241+224T>A) c.2205+224T>A (n.2205+224T>A) c.2387T>A (p.Leu796Gln) c.2133+224T>A (n.2133+224T>A) c.1680-5979T>A (n.1680-5979T>A) c.2483T>A (p.Leu828Gln) c.2549T>A (p.Leu850Gln) c.2546T>A (p.Leu849Gln) c.2519T>A (p.Leu840Gln) c.2465T>A (p.Leu822Gln) c.2438T>A (p.Leu813Gln) c.2423T>A (p.Leu808Gln) c.2030T>A (p.Leu677Gln) c.2492T>A (p.Leu831Gln) c.2429T>A (p.Leu810Gln) c.2426T>A (p.Leu809Gln) c.2384T>A (p.Leu795Gln) c.1457T>A (p.Leu486Gln) | |
20 | g.63406823G>A | CA511339366 | KCNQ2 | c.2494C>T (p.Leu832=) c.2440C>T (p.Leu814=) c.1837C>T (p.Leu613=) c.2347C>T (p.Leu783=) c.2008C>T (p.Leu670=) c.2356C>T (p.Leu786=) c.2241+223C>T (n.2241+223C>T) c.2205+223C>T (n.2205+223C>T) c.2386C>T (p.Leu796=) c.2133+223C>T (n.2133+223C>T) c.1680-5980C>T (n.1680-5980C>T) c.2482C>T (p.Leu828=) c.2548C>T (p.Leu850=) c.2545C>T (p.Leu849=) c.2518C>T (p.Leu840=) c.2464C>T (p.Leu822=) c.2437C>T (p.Leu813=) c.2422C>T (p.Leu808=) c.2029C>T (p.Leu677=) c.2491C>T (p.Leu831=) c.2428C>T (p.Leu810=) c.2425C>T (p.Leu809=) c.2383C>T (p.Leu795=) c.1456C>T (p.Leu486=) | ClinVar |
20 | g.63406823G>C | CA409637067 | KCNQ2 | c.2494C>G (p.Leu832Val) c.2440C>G (p.Leu814Val) c.1837C>G (p.Leu613Val) c.2347C>G (p.Leu783Val) c.2008C>G (p.Leu670Val) c.2356C>G (p.Leu786Val) c.2241+223C>G (n.2241+223C>G) c.2205+223C>G (n.2205+223C>G) c.2386C>G (p.Leu796Val) c.2133+223C>G (n.2133+223C>G) c.1680-5980C>G (n.1680-5980C>G) c.2482C>G (p.Leu828Val) c.2548C>G (p.Leu850Val) c.2545C>G (p.Leu849Val) c.2518C>G (p.Leu840Val) c.2464C>G (p.Leu822Val) c.2437C>G (p.Leu813Val) c.2422C>G (p.Leu808Val) c.2029C>G (p.Leu677Val) c.2491C>G (p.Leu831Val) c.2428C>G (p.Leu810Val) c.2425C>G (p.Leu809Val) c.2383C>G (p.Leu795Val) c.1456C>G (p.Leu486Val) | |
20 | g.63406823G>T | CA409637068 | KCNQ2 | c.2494C>A (p.Leu832Met) c.2440C>A (p.Leu814Met) c.1837C>A (p.Leu613Met) c.2347C>A (p.Leu783Met) c.2008C>A (p.Leu670Met) c.2356C>A (p.Leu786Met) c.2241+223C>A (n.2241+223C>A) c.2205+223C>A (n.2205+223C>A) c.2386C>A (p.Leu796Met) c.2133+223C>A (n.2133+223C>A) c.1680-5980C>A (n.1680-5980C>A) c.2482C>A (p.Leu828Met) c.2548C>A (p.Leu850Met) c.2545C>A (p.Leu849Met) c.2518C>A (p.Leu840Met) c.2464C>A (p.Leu822Met) c.2437C>A (p.Leu813Met) c.2422C>A (p.Leu808Met) c.2029C>A (p.Leu677Met) c.2491C>A (p.Leu831Met) c.2428C>A (p.Leu810Met) c.2425C>A (p.Leu809Met) c.2383C>A (p.Leu795Met) c.1456C>A (p.Leu486Met) | |
20 | g.63406824G>A | CA511339368 | KCNQ2 | c.2493C>T (p.Asn831=) c.2439C>T (p.Asn813=) c.1836C>T (p.Asn612=) c.2346C>T (p.Asn782=) c.2007C>T (p.Asn669=) c.2355C>T (p.Asn785=) c.2241+222C>T (n.2241+222C>T) c.2205+222C>T (n.2205+222C>T) c.2385C>T (p.Asn795=) c.2133+222C>T (n.2133+222C>T) c.1680-5981C>T (n.1680-5981C>T) c.2481C>T (p.Asn827=) c.2547C>T (p.Asn849=) c.2544C>T (p.Asn848=) c.2517C>T (p.Asn839=) c.2463C>T (p.Asn821=) c.2436C>T (p.Asn812=) c.2421C>T (p.Asn807=) c.2028C>T (p.Asn676=) c.2490C>T (p.Asn830=) c.2427C>T (p.Asn809=) c.2424C>T (p.Asn808=) c.2382C>T (p.Asn794=) c.1455C>T (p.Asn485=) | dbSNP gnomAD v4 |
20 | g.63406824G>C | CA409637069 | KCNQ2 | c.2493C>G (p.Asn831Lys) c.2439C>G (p.Asn813Lys) c.1836C>G (p.Asn612Lys) c.2346C>G (p.Asn782Lys) c.2007C>G (p.Asn669Lys) c.2355C>G (p.Asn785Lys) c.2241+222C>G (n.2241+222C>G) c.2205+222C>G (n.2205+222C>G) c.2385C>G (p.Asn795Lys) c.2133+222C>G (n.2133+222C>G) c.1680-5981C>G (n.1680-5981C>G) c.2481C>G (p.Asn827Lys) c.2547C>G (p.Asn849Lys) c.2544C>G (p.Asn848Lys) c.2517C>G (p.Asn839Lys) c.2463C>G (p.Asn821Lys) c.2436C>G (p.Asn812Lys) c.2421C>G (p.Asn807Lys) c.2028C>G (p.Asn676Lys) c.2490C>G (p.Asn830Lys) c.2427C>G (p.Asn809Lys) c.2424C>G (p.Asn808Lys) c.2382C>G (p.Asn794Lys) c.1455C>G (p.Asn485Lys) | gnomAD v4 |
20 | g.63406824G>T | CA409637071 | KCNQ2 | c.2493C>A (p.Asn831Lys) c.2439C>A (p.Asn813Lys) c.1836C>A (p.Asn612Lys) c.2346C>A (p.Asn782Lys) c.2007C>A (p.Asn669Lys) c.2355C>A (p.Asn785Lys) c.2241+222C>A (n.2241+222C>A) c.2205+222C>A (n.2205+222C>A) c.2385C>A (p.Asn795Lys) c.2133+222C>A (n.2133+222C>A) c.1680-5981C>A (n.1680-5981C>A) c.2481C>A (p.Asn827Lys) c.2547C>A (p.Asn849Lys) c.2544C>A (p.Asn848Lys) c.2517C>A (p.Asn839Lys) c.2463C>A (p.Asn821Lys) c.2436C>A (p.Asn812Lys) c.2421C>A (p.Asn807Lys) c.2028C>A (p.Asn676Lys) c.2490C>A (p.Asn830Lys) c.2427C>A (p.Asn809Lys) c.2424C>A (p.Asn808Lys) c.2382C>A (p.Asn794Lys) c.1455C>A (p.Asn485Lys) | ClinVar COSMIC |
20 | g.63406825T>A | CA409637072 | KCNQ2 | c.2492A>T (p.Asn831Ile) c.2438A>T (p.Asn813Ile) c.1835A>T (p.Asn612Ile) c.2345A>T (p.Asn782Ile) c.2006A>T (p.Asn669Ile) c.2354A>T (p.Asn785Ile) c.2241+221A>T (n.2241+221A>T) c.2205+221A>T (n.2205+221A>T) c.2384A>T (p.Asn795Ile) c.2133+221A>T (n.2133+221A>T) c.1680-5982A>T (n.1680-5982A>T) c.2480A>T (p.Asn827Ile) c.2546A>T (p.Asn849Ile) c.2543A>T (p.Asn848Ile) c.2516A>T (p.Asn839Ile) c.2462A>T (p.Asn821Ile) c.2435A>T (p.Asn812Ile) c.2420A>T (p.Asn807Ile) c.2027A>T (p.Asn676Ile) c.2489A>T (p.Asn830Ile) c.2426A>T (p.Asn809Ile) c.2423A>T (p.Asn808Ile) c.2381A>T (p.Asn794Ile) c.1454A>T (p.Asn485Ile) | |
20 | g.63406825T>C | CA317421743 | KCNQ2 | c.2492A>G (p.Asn831Ser) c.2438A>G (p.Asn813Ser) c.1835A>G (p.Asn612Ser) c.2345A>G (p.Asn782Ser) c.2006A>G (p.Asn669Ser) c.2354A>G (p.Asn785Ser) c.2241+221A>G (n.2241+221A>G) c.2205+221A>G (n.2205+221A>G) c.2384A>G (p.Asn795Ser) c.2133+221A>G (n.2133+221A>G) c.1680-5982A>G (n.1680-5982A>G) c.2480A>G (p.Asn827Ser) c.2546A>G (p.Asn849Ser) c.2543A>G (p.Asn848Ser) c.2516A>G (p.Asn839Ser) c.2462A>G (p.Asn821Ser) c.2435A>G (p.Asn812Ser) c.2420A>G (p.Asn807Ser) c.2027A>G (p.Asn676Ser) c.2489A>G (p.Asn830Ser) c.2426A>G (p.Asn809Ser) c.2423A>G (p.Asn808Ser) c.2381A>G (p.Asn794Ser) c.1454A>G (p.Asn485Ser) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406825T>G | CA409637075 | KCNQ2 | c.2492A>C (p.Asn831Thr) c.2438A>C (p.Asn813Thr) c.1835A>C (p.Asn612Thr) c.2345A>C (p.Asn782Thr) c.2006A>C (p.Asn669Thr) c.2354A>C (p.Asn785Thr) c.2241+221A>C (n.2241+221A>C) c.2205+221A>C (n.2205+221A>C) c.2384A>C (p.Asn795Thr) c.2133+221A>C (n.2133+221A>C) c.1680-5982A>C (n.1680-5982A>C) c.2480A>C (p.Asn827Thr) c.2546A>C (p.Asn849Thr) c.2543A>C (p.Asn848Thr) c.2516A>C (p.Asn839Thr) c.2462A>C (p.Asn821Thr) c.2435A>C (p.Asn812Thr) c.2420A>C (p.Asn807Thr) c.2027A>C (p.Asn676Thr) c.2489A>C (p.Asn830Thr) c.2426A>C (p.Asn809Thr) c.2423A>C (p.Asn808Thr) c.2381A>C (p.Asn794Thr) c.1454A>C (p.Asn485Thr) | |
20 | g.63406825T= | CA2374774261 | KCNQ2 | c.2492A= (p.Asn831=) c.2438A= (p.Asn813=) c.1835A= (p.Asn612=) c.2345A= (p.Asn782=) c.2006A= (p.Asn669=) c.2354A= (p.Asn785=) c.2241+221A= (n.2241+221A=) c.2205+221A= (n.2205+221A=) c.2384A= (p.Asn795=) c.2133+221A= (n.2133+221A=) c.1680-5982A= (n.1680-5982A=) c.2480A= (p.Asn827=) c.2546A= (p.Asn849=) c.2543A= (p.Asn848=) c.2516A= (p.Asn839=) c.2462A= (p.Asn821=) c.2435A= (p.Asn812=) c.2420A= (p.Asn807=) c.2027A= (p.Asn676=) c.2489A= (p.Asn830=) c.2426A= (p.Asn809=) c.2423A= (p.Asn808=) c.2381A= (p.Asn794=) c.1454A= (p.Asn485=) | |
20 | g.63406826T>A | CA409637077 | KCNQ2 | c.2491A>T (p.Asn831Tyr) c.2437A>T (p.Asn813Tyr) c.1834A>T (p.Asn612Tyr) c.2344A>T (p.Asn782Tyr) c.2005A>T (p.Asn669Tyr) c.2353A>T (p.Asn785Tyr) c.2241+220A>T (n.2241+220A>T) c.2205+220A>T (n.2205+220A>T) c.2383A>T (p.Asn795Tyr) c.2133+220A>T (n.2133+220A>T) c.1680-5983A>T (n.1680-5983A>T) c.2479A>T (p.Asn827Tyr) c.2545A>T (p.Asn849Tyr) c.2542A>T (p.Asn848Tyr) c.2515A>T (p.Asn839Tyr) c.2461A>T (p.Asn821Tyr) c.2434A>T (p.Asn812Tyr) c.2419A>T (p.Asn807Tyr) c.2026A>T (p.Asn676Tyr) c.2488A>T (p.Asn830Tyr) c.2425A>T (p.Asn809Tyr) c.2422A>T (p.Asn808Tyr) c.2380A>T (p.Asn794Tyr) c.1453A>T (p.Asn485Tyr) | |
20 | g.63406826T>C | CA409637079 | KCNQ2 | c.2491A>G (p.Asn831Asp) c.2437A>G (p.Asn813Asp) c.1834A>G (p.Asn612Asp) c.2344A>G (p.Asn782Asp) c.2005A>G (p.Asn669Asp) c.2353A>G (p.Asn785Asp) c.2241+220A>G (n.2241+220A>G) c.2205+220A>G (n.2205+220A>G) c.2383A>G (p.Asn795Asp) c.2133+220A>G (n.2133+220A>G) c.1680-5983A>G (n.1680-5983A>G) c.2479A>G (p.Asn827Asp) c.2545A>G (p.Asn849Asp) c.2542A>G (p.Asn848Asp) c.2515A>G (p.Asn839Asp) c.2461A>G (p.Asn821Asp) c.2434A>G (p.Asn812Asp) c.2419A>G (p.Asn807Asp) c.2026A>G (p.Asn676Asp) c.2488A>G (p.Asn830Asp) c.2425A>G (p.Asn809Asp) c.2422A>G (p.Asn808Asp) c.2380A>G (p.Asn794Asp) c.1453A>G (p.Asn485Asp) | |
20 | g.63406826T>G | CA409637081 | KCNQ2 | c.2491A>C (p.Asn831His) c.2437A>C (p.Asn813His) c.1834A>C (p.Asn612His) c.2344A>C (p.Asn782His) c.2005A>C (p.Asn669His) c.2353A>C (p.Asn785His) c.2241+220A>C (n.2241+220A>C) c.2205+220A>C (n.2205+220A>C) c.2383A>C (p.Asn795His) c.2133+220A>C (n.2133+220A>C) c.1680-5983A>C (n.1680-5983A>C) c.2479A>C (p.Asn827His) c.2545A>C (p.Asn849His) c.2542A>C (p.Asn848His) c.2515A>C (p.Asn839His) c.2461A>C (p.Asn821His) c.2434A>C (p.Asn812His) c.2419A>C (p.Asn807His) c.2026A>C (p.Asn676His) c.2488A>C (p.Asn830His) c.2425A>C (p.Asn809His) c.2422A>C (p.Asn808His) c.2380A>C (p.Asn794His) c.1453A>C (p.Asn485His) | |
20 | g.63406827C>A | CA409637083 | KCNQ2 | c.2490G>T (p.Glu830Asp) c.2436G>T (p.Glu812Asp) c.1833G>T (p.Glu611Asp) c.2343G>T (p.Glu781Asp) c.2004G>T (p.Glu668Asp) c.2352G>T (p.Glu784Asp) c.2241+219G>T (n.2241+219G>T) c.2205+219G>T (n.2205+219G>T) c.2382G>T (p.Glu794Asp) c.2133+219G>T (n.2133+219G>T) c.1680-5984G>T (n.1680-5984G>T) c.2478G>T (p.Glu826Asp) c.2544G>T (p.Glu848Asp) c.2541G>T (p.Glu847Asp) c.2514G>T (p.Glu838Asp) c.2460G>T (p.Glu820Asp) c.2433G>T (p.Glu811Asp) c.2418G>T (p.Glu806Asp) c.2025G>T (p.Glu675Asp) c.2487G>T (p.Glu829Asp) c.2424G>T (p.Glu808Asp) c.2421G>T (p.Glu807Asp) c.2379G>T (p.Glu793Asp) c.1452G>T (p.Glu484Asp) | |
20 | g.63406827C>G | CA409637084 | KCNQ2 | c.2490G>C (p.Glu830Asp) c.2436G>C (p.Glu812Asp) c.1833G>C (p.Glu611Asp) c.2343G>C (p.Glu781Asp) c.2004G>C (p.Glu668Asp) c.2352G>C (p.Glu784Asp) c.2241+219G>C (n.2241+219G>C) c.2205+219G>C (n.2205+219G>C) c.2382G>C (p.Glu794Asp) c.2133+219G>C (n.2133+219G>C) c.1680-5984G>C (n.1680-5984G>C) c.2478G>C (p.Glu826Asp) c.2544G>C (p.Glu848Asp) c.2541G>C (p.Glu847Asp) c.2514G>C (p.Glu838Asp) c.2460G>C (p.Glu820Asp) c.2433G>C (p.Glu811Asp) c.2418G>C (p.Glu806Asp) c.2025G>C (p.Glu675Asp) c.2487G>C (p.Glu829Asp) c.2424G>C (p.Glu808Asp) c.2421G>C (p.Glu807Asp) c.2379G>C (p.Glu793Asp) c.1452G>C (p.Glu484Asp) | |
20 | g.63406827C>T | CA511339374 | KCNQ2 | c.2490G>A (p.Glu830=) c.2436G>A (p.Glu812=) c.1833G>A (p.Glu611=) c.2343G>A (p.Glu781=) c.2004G>A (p.Glu668=) c.2352G>A (p.Glu784=) c.2241+219G>A (n.2241+219G>A) c.2205+219G>A (n.2205+219G>A) c.2382G>A (p.Glu794=) c.2133+219G>A (n.2133+219G>A) c.1680-5984G>A (n.1680-5984G>A) c.2478G>A (p.Glu826=) c.2544G>A (p.Glu848=) c.2541G>A (p.Glu847=) c.2514G>A (p.Glu838=) c.2460G>A (p.Glu820=) c.2433G>A (p.Glu811=) c.2418G>A (p.Glu806=) c.2025G>A (p.Glu675=) c.2487G>A (p.Glu829=) c.2424G>A (p.Glu808=) c.2421G>A (p.Glu807=) c.2379G>A (p.Glu793=) c.1452G>A (p.Glu484=) | |
20 | g.63406828T>A | CA409637087 | KCNQ2 | c.2489A>T (p.Glu830Val) c.2435A>T (p.Glu812Val) c.1832A>T (p.Glu611Val) c.2342A>T (p.Glu781Val) c.2003A>T (p.Glu668Val) c.2351A>T (p.Glu784Val) c.2241+218A>T (n.2241+218A>T) c.2205+218A>T (n.2205+218A>T) c.2381A>T (p.Glu794Val) c.2133+218A>T (n.2133+218A>T) c.1680-5985A>T (n.1680-5985A>T) c.2477A>T (p.Glu826Val) c.2543A>T (p.Glu848Val) c.2540A>T (p.Glu847Val) c.2513A>T (p.Glu838Val) c.2459A>T (p.Glu820Val) c.2432A>T (p.Glu811Val) c.2417A>T (p.Glu806Val) c.2024A>T (p.Glu675Val) c.2486A>T (p.Glu829Val) c.2423A>T (p.Glu808Val) c.2420A>T (p.Glu807Val) c.2378A>T (p.Glu793Val) c.1451A>T (p.Glu484Val) | |
20 | g.63406828T>C | CA409637089 | KCNQ2 | c.2489A>G (p.Glu830Gly) c.2435A>G (p.Glu812Gly) c.1832A>G (p.Glu611Gly) c.2342A>G (p.Glu781Gly) c.2003A>G (p.Glu668Gly) c.2351A>G (p.Glu784Gly) c.2241+218A>G (n.2241+218A>G) c.2205+218A>G (n.2205+218A>G) c.2381A>G (p.Glu794Gly) c.2133+218A>G (n.2133+218A>G) c.1680-5985A>G (n.1680-5985A>G) c.2477A>G (p.Glu826Gly) c.2543A>G (p.Glu848Gly) c.2540A>G (p.Glu847Gly) c.2513A>G (p.Glu838Gly) c.2459A>G (p.Glu820Gly) c.2432A>G (p.Glu811Gly) c.2417A>G (p.Glu806Gly) c.2024A>G (p.Glu675Gly) c.2486A>G (p.Glu829Gly) c.2423A>G (p.Glu808Gly) c.2420A>G (p.Glu807Gly) c.2378A>G (p.Glu793Gly) c.1451A>G (p.Glu484Gly) | |
20 | g.63406828T>G | CA409637090 | KCNQ2 | c.2489A>C (p.Glu830Ala) c.2435A>C (p.Glu812Ala) c.1832A>C (p.Glu611Ala) c.2342A>C (p.Glu781Ala) c.2003A>C (p.Glu668Ala) c.2351A>C (p.Glu784Ala) c.2241+218A>C (n.2241+218A>C) c.2205+218A>C (n.2205+218A>C) c.2381A>C (p.Glu794Ala) c.2133+218A>C (n.2133+218A>C) c.1680-5985A>C (n.1680-5985A>C) c.2477A>C (p.Glu826Ala) c.2543A>C (p.Glu848Ala) c.2540A>C (p.Glu847Ala) c.2513A>C (p.Glu838Ala) c.2459A>C (p.Glu820Ala) c.2432A>C (p.Glu811Ala) c.2417A>C (p.Glu806Ala) c.2024A>C (p.Glu675Ala) c.2486A>C (p.Glu829Ala) c.2423A>C (p.Glu808Ala) c.2420A>C (p.Glu807Ala) c.2378A>C (p.Glu793Ala) c.1451A>C (p.Glu484Ala) | ClinVar |
20 | g.63406829C>A | CA409637093 | KCNQ2 | c.2488G>T (p.Glu830Ter) c.2434G>T (p.Glu812Ter) c.1831G>T (p.Glu611Ter) c.2341G>T (p.Glu781Ter) c.2002G>T (p.Glu668Ter) c.2350G>T (p.Glu784Ter) c.2241+217G>T (n.2241+217G>T) c.2205+217G>T (n.2205+217G>T) c.2380G>T (p.Glu794Ter) c.2133+217G>T (n.2133+217G>T) c.1680-5986G>T (n.1680-5986G>T) c.2476G>T (p.Glu826Ter) c.2542G>T (p.Glu848Ter) c.2539G>T (p.Glu847Ter) c.2512G>T (p.Glu838Ter) c.2458G>T (p.Glu820Ter) c.2431G>T (p.Glu811Ter) c.2416G>T (p.Glu806Ter) c.2023G>T (p.Glu675Ter) c.2485G>T (p.Glu829Ter) c.2422G>T (p.Glu808Ter) c.2419G>T (p.Glu807Ter) c.2377G>T (p.Glu793Ter) c.1450G>T (p.Glu484Ter) | |
20 | g.63406829C>G | CA409637095 | KCNQ2 | c.2488G>C (p.Glu830Gln) c.2434G>C (p.Glu812Gln) c.1831G>C (p.Glu611Gln) c.2341G>C (p.Glu781Gln) c.2002G>C (p.Glu668Gln) c.2350G>C (p.Glu784Gln) c.2241+217G>C (n.2241+217G>C) c.2205+217G>C (n.2205+217G>C) c.2380G>C (p.Glu794Gln) c.2133+217G>C (n.2133+217G>C) c.1680-5986G>C (n.1680-5986G>C) c.2476G>C (p.Glu826Gln) c.2542G>C (p.Glu848Gln) c.2539G>C (p.Glu847Gln) c.2512G>C (p.Glu838Gln) c.2458G>C (p.Glu820Gln) c.2431G>C (p.Glu811Gln) c.2416G>C (p.Glu806Gln) c.2023G>C (p.Glu675Gln) c.2485G>C (p.Glu829Gln) c.2422G>C (p.Glu808Gln) c.2419G>C (p.Glu807Gln) c.2377G>C (p.Glu793Gln) c.1450G>C (p.Glu484Gln) | |
20 | g.63406829C>T | CA409637096 | KCNQ2 | c.2488G>A (p.Glu830Lys) c.2434G>A (p.Glu812Lys) c.1831G>A (p.Glu611Lys) c.2341G>A (p.Glu781Lys) c.2002G>A (p.Glu668Lys) c.2350G>A (p.Glu784Lys) c.2241+217G>A (n.2241+217G>A) c.2205+217G>A (n.2205+217G>A) c.2380G>A (p.Glu794Lys) c.2133+217G>A (n.2133+217G>A) c.1680-5986G>A (n.1680-5986G>A) c.2476G>A (p.Glu826Lys) c.2542G>A (p.Glu848Lys) c.2539G>A (p.Glu847Lys) c.2512G>A (p.Glu838Lys) c.2458G>A (p.Glu820Lys) c.2431G>A (p.Glu811Lys) c.2416G>A (p.Glu806Lys) c.2023G>A (p.Glu675Lys) c.2485G>A (p.Glu829Lys) c.2422G>A (p.Glu808Lys) c.2419G>A (p.Glu807Lys) c.2377G>A (p.Glu793Lys) c.1450G>A (p.Glu484Lys) | |
20 | g.63406830C>A | CA409637098 | KCNQ2 | c.2487G>T (p.Lys829Asn) c.2433G>T (p.Lys811Asn) c.1830G>T (p.Lys610Asn) c.2340G>T (p.Lys780Asn) c.2001G>T (p.Lys667Asn) c.2349G>T (p.Lys783Asn) c.2241+216G>T (n.2241+216G>T) c.2205+216G>T (n.2205+216G>T) c.2379G>T (p.Lys793Asn) c.2133+216G>T (n.2133+216G>T) c.1680-5987G>T (n.1680-5987G>T) c.2475G>T (p.Lys825Asn) c.2541G>T (p.Lys847Asn) c.2538G>T (p.Lys846Asn) c.2511G>T (p.Lys837Asn) c.2457G>T (p.Lys819Asn) c.2430G>T (p.Lys810Asn) c.2415G>T (p.Lys805Asn) c.2022G>T (p.Lys674Asn) c.2484G>T (p.Lys828Asn) c.2421G>T (p.Lys807Asn) c.2418G>T (p.Lys806Asn) c.2376G>T (p.Lys792Asn) c.1449G>T (p.Lys483Asn) | |
20 | g.63406830C>G | CA409637099 | KCNQ2 | c.2487G>C (p.Lys829Asn) c.2433G>C (p.Lys811Asn) c.1830G>C (p.Lys610Asn) c.2340G>C (p.Lys780Asn) c.2001G>C (p.Lys667Asn) c.2349G>C (p.Lys783Asn) c.2241+216G>C (n.2241+216G>C) c.2205+216G>C (n.2205+216G>C) c.2379G>C (p.Lys793Asn) c.2133+216G>C (n.2133+216G>C) c.1680-5987G>C (n.1680-5987G>C) c.2475G>C (p.Lys825Asn) c.2541G>C (p.Lys847Asn) c.2538G>C (p.Lys846Asn) c.2511G>C (p.Lys837Asn) c.2457G>C (p.Lys819Asn) c.2430G>C (p.Lys810Asn) c.2415G>C (p.Lys805Asn) c.2022G>C (p.Lys674Asn) c.2484G>C (p.Lys828Asn) c.2421G>C (p.Lys807Asn) c.2418G>C (p.Lys806Asn) c.2376G>C (p.Lys792Asn) c.1449G>C (p.Lys483Asn) | |
20 | g.63406830C>T | CA511339379 | KCNQ2 | c.2487G>A (p.Lys829=) c.2433G>A (p.Lys811=) c.1830G>A (p.Lys610=) c.2340G>A (p.Lys780=) c.2001G>A (p.Lys667=) c.2349G>A (p.Lys783=) c.2241+216G>A (n.2241+216G>A) c.2205+216G>A (n.2205+216G>A) c.2379G>A (p.Lys793=) c.2133+216G>A (n.2133+216G>A) c.1680-5987G>A (n.1680-5987G>A) c.2475G>A (p.Lys825=) c.2541G>A (p.Lys847=) c.2538G>A (p.Lys846=) c.2511G>A (p.Lys837=) c.2457G>A (p.Lys819=) c.2430G>A (p.Lys810=) c.2415G>A (p.Lys805=) c.2022G>A (p.Lys674=) c.2484G>A (p.Lys828=) c.2421G>A (p.Lys807=) c.2418G>A (p.Lys806=) c.2376G>A (p.Lys792=) c.1449G>A (p.Lys483=) | ClinVar gnomAD v4 |
20 | g.63406831T>A | CA409637101 | KCNQ2 | c.2486A>T (p.Lys829Met) c.2432A>T (p.Lys811Met) c.1829A>T (p.Lys610Met) c.2339A>T (p.Lys780Met) c.2000A>T (p.Lys667Met) c.2348A>T (p.Lys783Met) c.2241+215A>T (n.2241+215A>T) c.2205+215A>T (n.2205+215A>T) c.2378A>T (p.Lys793Met) c.2133+215A>T (n.2133+215A>T) c.1680-5988A>T (n.1680-5988A>T) c.2474A>T (p.Lys825Met) c.2540A>T (p.Lys847Met) c.2537A>T (p.Lys846Met) c.2510A>T (p.Lys837Met) c.2456A>T (p.Lys819Met) c.2429A>T (p.Lys810Met) c.2414A>T (p.Lys805Met) c.2021A>T (p.Lys674Met) c.2483A>T (p.Lys828Met) c.2420A>T (p.Lys807Met) c.2417A>T (p.Lys806Met) c.2375A>T (p.Lys792Met) c.1448A>T (p.Lys483Met) | |
20 | g.63406831T>C | CA409637103 | KCNQ2 | c.2486A>G (p.Lys829Arg) c.2432A>G (p.Lys811Arg) c.1829A>G (p.Lys610Arg) c.2339A>G (p.Lys780Arg) c.2000A>G (p.Lys667Arg) c.2348A>G (p.Lys783Arg) c.2241+215A>G (n.2241+215A>G) c.2205+215A>G (n.2205+215A>G) c.2378A>G (p.Lys793Arg) c.2133+215A>G (n.2133+215A>G) c.1680-5988A>G (n.1680-5988A>G) c.2474A>G (p.Lys825Arg) c.2540A>G (p.Lys847Arg) c.2537A>G (p.Lys846Arg) c.2510A>G (p.Lys837Arg) c.2456A>G (p.Lys819Arg) c.2429A>G (p.Lys810Arg) c.2414A>G (p.Lys805Arg) c.2021A>G (p.Lys674Arg) c.2483A>G (p.Lys828Arg) c.2420A>G (p.Lys807Arg) c.2417A>G (p.Lys806Arg) c.2375A>G (p.Lys792Arg) c.1448A>G (p.Lys483Arg) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63406831T>G | CA409637105 | KCNQ2 | c.2486A>C (p.Lys829Thr) c.2432A>C (p.Lys811Thr) c.1829A>C (p.Lys610Thr) c.2339A>C (p.Lys780Thr) c.2000A>C (p.Lys667Thr) c.2348A>C (p.Lys783Thr) c.2241+215A>C (n.2241+215A>C) c.2205+215A>C (n.2205+215A>C) c.2378A>C (p.Lys793Thr) c.2133+215A>C (n.2133+215A>C) c.1680-5988A>C (n.1680-5988A>C) c.2474A>C (p.Lys825Thr) c.2540A>C (p.Lys847Thr) c.2537A>C (p.Lys846Thr) c.2510A>C (p.Lys837Thr) c.2456A>C (p.Lys819Thr) c.2429A>C (p.Lys810Thr) c.2414A>C (p.Lys805Thr) c.2021A>C (p.Lys674Thr) c.2483A>C (p.Lys828Thr) c.2420A>C (p.Lys807Thr) c.2417A>C (p.Lys806Thr) c.2375A>C (p.Lys792Thr) c.1448A>C (p.Lys483Thr) | |
20 | g.63406831T= | CA2374774262 | KCNQ2 | c.2486A= (p.Lys829=) c.2432A= (p.Lys811=) c.1829A= (p.Lys610=) c.2339A= (p.Lys780=) c.2000A= (p.Lys667=) c.2348A= (p.Lys783=) c.2241+215A= (n.2241+215A=) c.2205+215A= (n.2205+215A=) c.2378A= (p.Lys793=) c.2133+215A= (n.2133+215A=) c.1680-5988A= (n.1680-5988A=) c.2474A= (p.Lys825=) c.2540A= (p.Lys847=) c.2537A= (p.Lys846=) c.2510A= (p.Lys837=) c.2456A= (p.Lys819=) c.2429A= (p.Lys810=) c.2414A= (p.Lys805=) c.2021A= (p.Lys674=) c.2483A= (p.Lys828=) c.2420A= (p.Lys807=) c.2417A= (p.Lys806=) c.2375A= (p.Lys792=) c.1448A= (p.Lys483=) | |
20 | g.63406832T>A | CA409637111 | KCNQ2 | c.2485A>T (p.Lys829Ter) c.2431A>T (p.Lys811Ter) c.1828A>T (p.Lys610Ter) c.2338A>T (p.Lys780Ter) c.1999A>T (p.Lys667Ter) c.2347A>T (p.Lys783Ter) c.2241+214A>T (n.2241+214A>T) c.2205+214A>T (n.2205+214A>T) c.2377A>T (p.Lys793Ter) c.2133+214A>T (n.2133+214A>T) c.1680-5989A>T (n.1680-5989A>T) c.2473A>T (p.Lys825Ter) c.2539A>T (p.Lys847Ter) c.2536A>T (p.Lys846Ter) c.2509A>T (p.Lys837Ter) c.2455A>T (p.Lys819Ter) c.2428A>T (p.Lys810Ter) c.2413A>T (p.Lys805Ter) c.2020A>T (p.Lys674Ter) c.2482A>T (p.Lys828Ter) c.2419A>T (p.Lys807Ter) c.2416A>T (p.Lys806Ter) c.2374A>T (p.Lys792Ter) c.1447A>T (p.Lys483Ter) | |
20 | g.63406832T>C | CA409637109 | KCNQ2 | c.2485A>G (p.Lys829Glu) c.2431A>G (p.Lys811Glu) c.1828A>G (p.Lys610Glu) c.2338A>G (p.Lys780Glu) c.1999A>G (p.Lys667Glu) c.2347A>G (p.Lys783Glu) c.2241+214A>G (n.2241+214A>G) c.2205+214A>G (n.2205+214A>G) c.2377A>G (p.Lys793Glu) c.2133+214A>G (n.2133+214A>G) c.1680-5989A>G (n.1680-5989A>G) c.2473A>G (p.Lys825Glu) c.2539A>G (p.Lys847Glu) c.2536A>G (p.Lys846Glu) c.2509A>G (p.Lys837Glu) c.2455A>G (p.Lys819Glu) c.2428A>G (p.Lys810Glu) c.2413A>G (p.Lys805Glu) c.2020A>G (p.Lys674Glu) c.2482A>G (p.Lys828Glu) c.2419A>G (p.Lys807Glu) c.2416A>G (p.Lys806Glu) c.2374A>G (p.Lys792Glu) c.1447A>G (p.Lys483Glu) | |
20 | g.63406832T>G | CA409637107 | KCNQ2 | c.2485A>C (p.Lys829Gln) c.2431A>C (p.Lys811Gln) c.1828A>C (p.Lys610Gln) c.2338A>C (p.Lys780Gln) c.1999A>C (p.Lys667Gln) c.2347A>C (p.Lys783Gln) c.2241+214A>C (n.2241+214A>C) c.2205+214A>C (n.2205+214A>C) c.2377A>C (p.Lys793Gln) c.2133+214A>C (n.2133+214A>C) c.1680-5989A>C (n.1680-5989A>C) c.2473A>C (p.Lys825Gln) c.2539A>C (p.Lys847Gln) c.2536A>C (p.Lys846Gln) c.2509A>C (p.Lys837Gln) c.2455A>C (p.Lys819Gln) c.2428A>C (p.Lys810Gln) c.2413A>C (p.Lys805Gln) c.2020A>C (p.Lys674Gln) c.2482A>C (p.Lys828Gln) c.2419A>C (p.Lys807Gln) c.2416A>C (p.Lys806Gln) c.2374A>C (p.Lys792Gln) c.1447A>C (p.Lys483Gln) | |
20 | g.63406833G>A | CA511339386 | KCNQ2 | c.2484C>T (p.Ser828=) c.2430C>T (p.Ser810=) c.1827C>T (p.Ser609=) c.2337C>T (p.Ser779=) c.1998C>T (p.Ser666=) c.2346C>T (p.Ser782=) c.2241+213C>T (n.2241+213C>T) c.2205+213C>T (n.2205+213C>T) c.2376C>T (p.Ser792=) c.2133+213C>T (n.2133+213C>T) c.1680-5990C>T (n.1680-5990C>T) c.2472C>T (p.Ser824=) c.2538C>T (p.Ser846=) c.2535C>T (p.Ser845=) c.2508C>T (p.Ser836=) c.2454C>T (p.Ser818=) c.2427C>T (p.Ser809=) c.2412C>T (p.Ser804=) c.2019C>T (p.Ser673=) c.2481C>T (p.Ser827=) c.2418C>T (p.Ser806=) c.2415C>T (p.Ser805=) c.2373C>T (p.Ser791=) c.1446C>T (p.Ser482=) | dbSNP |
20 | g.63406833G>C | CA511339387 | KCNQ2 | c.2484C>G (p.Ser828=) c.2430C>G (p.Ser810=) c.1827C>G (p.Ser609=) c.2337C>G (p.Ser779=) c.1998C>G (p.Ser666=) c.2346C>G (p.Ser782=) c.2241+213C>G (n.2241+213C>G) c.2205+213C>G (n.2205+213C>G) c.2376C>G (p.Ser792=) c.2133+213C>G (n.2133+213C>G) c.1680-5990C>G (n.1680-5990C>G) c.2472C>G (p.Ser824=) c.2538C>G (p.Ser846=) c.2535C>G (p.Ser845=) c.2508C>G (p.Ser836=) c.2454C>G (p.Ser818=) c.2427C>G (p.Ser809=) c.2412C>G (p.Ser804=) c.2019C>G (p.Ser673=) c.2481C>G (p.Ser827=) c.2418C>G (p.Ser806=) c.2415C>G (p.Ser805=) c.2373C>G (p.Ser791=) c.1446C>G (p.Ser482=) | gnomAD v4 |
20 | g.63406833G= | CA2374774263 | KCNQ2 | c.2484C= (p.Ser828=) c.2430C= (p.Ser810=) c.1827C= (p.Ser609=) c.2337C= (p.Ser779=) c.1998C= (p.Ser666=) c.2346C= (p.Ser782=) c.2241+213C= (n.2241+213C=) c.2205+213C= (n.2205+213C=) c.2376C= (p.Ser792=) c.2133+213C= (n.2133+213C=) c.1680-5990C= (n.1680-5990C=) c.2472C= (p.Ser824=) c.2538C= (p.Ser846=) c.2535C= (p.Ser845=) c.2508C= (p.Ser836=) c.2454C= (p.Ser818=) c.2427C= (p.Ser809=) c.2412C= (p.Ser804=) c.2019C= (p.Ser673=) c.2481C= (p.Ser827=) c.2418C= (p.Ser806=) c.2415C= (p.Ser805=) c.2373C= (p.Ser791=) c.1446C= (p.Ser482=) | |
20 | g.63406833G>T | CA511339390 | KCNQ2 | c.2484C>A (p.Ser828=) c.2430C>A (p.Ser810=) c.1827C>A (p.Ser609=) c.2337C>A (p.Ser779=) c.1998C>A (p.Ser666=) c.2346C>A (p.Ser782=) c.2241+213C>A (n.2241+213C>A) c.2205+213C>A (n.2205+213C>A) c.2376C>A (p.Ser792=) c.2133+213C>A (n.2133+213C>A) c.1680-5990C>A (n.1680-5990C>A) c.2472C>A (p.Ser824=) c.2538C>A (p.Ser846=) c.2535C>A (p.Ser845=) c.2508C>A (p.Ser836=) c.2454C>A (p.Ser818=) c.2427C>A (p.Ser809=) c.2412C>A (p.Ser804=) c.2019C>A (p.Ser673=) c.2481C>A (p.Ser827=) c.2418C>A (p.Ser806=) c.2415C>A (p.Ser805=) c.2373C>A (p.Ser791=) c.1446C>A (p.Ser482=) | |
20 | g.63406834G>A | CA409637113 | KCNQ2 | c.2483C>T (p.Ser828Phe) c.2429C>T (p.Ser810Phe) c.1826C>T (p.Ser609Phe) c.2336C>T (p.Ser779Phe) c.1997C>T (p.Ser666Phe) c.2345C>T (p.Ser782Phe) c.2241+212C>T (n.2241+212C>T) c.2205+212C>T (n.2205+212C>T) c.2375C>T (p.Ser792Phe) c.2133+212C>T (n.2133+212C>T) c.1680-5991C>T (n.1680-5991C>T) c.2471C>T (p.Ser824Phe) c.2537C>T (p.Ser846Phe) c.2534C>T (p.Ser845Phe) c.2507C>T (p.Ser836Phe) c.2453C>T (p.Ser818Phe) c.2426C>T (p.Ser809Phe) c.2411C>T (p.Ser804Phe) c.2018C>T (p.Ser673Phe) c.2480C>T (p.Ser827Phe) c.2417C>T (p.Ser806Phe) c.2414C>T (p.Ser805Phe) c.2372C>T (p.Ser791Phe) c.1445C>T (p.Ser482Phe) | |
20 | g.63406834G>C | CA409637117 | KCNQ2 | c.2483C>G (p.Ser828Cys) c.2429C>G (p.Ser810Cys) c.1826C>G (p.Ser609Cys) c.2336C>G (p.Ser779Cys) c.1997C>G (p.Ser666Cys) c.2345C>G (p.Ser782Cys) c.2241+212C>G (n.2241+212C>G) c.2205+212C>G (n.2205+212C>G) c.2375C>G (p.Ser792Cys) c.2133+212C>G (n.2133+212C>G) c.1680-5991C>G (n.1680-5991C>G) c.2471C>G (p.Ser824Cys) c.2537C>G (p.Ser846Cys) c.2534C>G (p.Ser845Cys) c.2507C>G (p.Ser836Cys) c.2453C>G (p.Ser818Cys) c.2426C>G (p.Ser809Cys) c.2411C>G (p.Ser804Cys) c.2018C>G (p.Ser673Cys) c.2480C>G (p.Ser827Cys) c.2417C>G (p.Ser806Cys) c.2414C>G (p.Ser805Cys) c.2372C>G (p.Ser791Cys) c.1445C>G (p.Ser482Cys) | |
20 | g.63406834G>T | CA409637115 | KCNQ2 | c.2483C>A (p.Ser828Tyr) c.2429C>A (p.Ser810Tyr) c.1826C>A (p.Ser609Tyr) c.2336C>A (p.Ser779Tyr) c.1997C>A (p.Ser666Tyr) c.2345C>A (p.Ser782Tyr) c.2241+212C>A (n.2241+212C>A) c.2205+212C>A (n.2205+212C>A) c.2375C>A (p.Ser792Tyr) c.2133+212C>A (n.2133+212C>A) c.1680-5991C>A (n.1680-5991C>A) c.2471C>A (p.Ser824Tyr) c.2537C>A (p.Ser846Tyr) c.2534C>A (p.Ser845Tyr) c.2507C>A (p.Ser836Tyr) c.2453C>A (p.Ser818Tyr) c.2426C>A (p.Ser809Tyr) c.2411C>A (p.Ser804Tyr) c.2018C>A (p.Ser673Tyr) c.2480C>A (p.Ser827Tyr) c.2417C>A (p.Ser806Tyr) c.2414C>A (p.Ser805Tyr) c.2372C>A (p.Ser791Tyr) c.1445C>A (p.Ser482Tyr) | gnomAD v4 |
20 | g.63406835A= | CA2374774264 | KCNQ2 | c.2482T= (p.Ser828=) c.2428T= (p.Ser810=) c.1825T= (p.Ser609=) c.2335T= (p.Ser779=) c.1996T= (p.Ser666=) c.2344T= (p.Ser782=) c.2241+211T= (n.2241+211T=) c.2205+211T= (n.2205+211T=) c.2374T= (p.Ser792=) c.2133+211T= (n.2133+211T=) c.1680-5992T= (n.1680-5992T=) c.2470T= (p.Ser824=) c.2536T= (p.Ser846=) c.2533T= (p.Ser845=) c.2506T= (p.Ser836=) c.2452T= (p.Ser818=) c.2425T= (p.Ser809=) c.2410T= (p.Ser804=) c.2017T= (p.Ser673=) c.2479T= (p.Ser827=) c.2416T= (p.Ser806=) c.2413T= (p.Ser805=) c.2371T= (p.Ser791=) c.1444T= (p.Ser482=) | |
20 | g.63406835A>C | CA409637119 | KCNQ2 | c.2482T>G (p.Ser828Ala) c.2428T>G (p.Ser810Ala) c.1825T>G (p.Ser609Ala) c.2335T>G (p.Ser779Ala) c.1996T>G (p.Ser666Ala) c.2344T>G (p.Ser782Ala) c.2241+211T>G (n.2241+211T>G) c.2205+211T>G (n.2205+211T>G) c.2374T>G (p.Ser792Ala) c.2133+211T>G (n.2133+211T>G) c.1680-5992T>G (n.1680-5992T>G) c.2470T>G (p.Ser824Ala) c.2536T>G (p.Ser846Ala) c.2533T>G (p.Ser845Ala) c.2506T>G (p.Ser836Ala) c.2452T>G (p.Ser818Ala) c.2425T>G (p.Ser809Ala) c.2410T>G (p.Ser804Ala) c.2017T>G (p.Ser673Ala) c.2479T>G (p.Ser827Ala) c.2416T>G (p.Ser806Ala) c.2413T>G (p.Ser805Ala) c.2371T>G (p.Ser791Ala) c.1444T>G (p.Ser482Ala) | |
20 | g.63406835A>G | CA409637123 | KCNQ2 | c.2482T>C (p.Ser828Pro) c.2428T>C (p.Ser810Pro) c.1825T>C (p.Ser609Pro) c.2335T>C (p.Ser779Pro) c.1996T>C (p.Ser666Pro) c.2344T>C (p.Ser782Pro) c.2241+211T>C (n.2241+211T>C) c.2205+211T>C (n.2205+211T>C) c.2374T>C (p.Ser792Pro) c.2133+211T>C (n.2133+211T>C) c.1680-5992T>C (n.1680-5992T>C) c.2470T>C (p.Ser824Pro) c.2536T>C (p.Ser846Pro) c.2533T>C (p.Ser845Pro) c.2506T>C (p.Ser836Pro) c.2452T>C (p.Ser818Pro) c.2425T>C (p.Ser809Pro) c.2410T>C (p.Ser804Pro) c.2017T>C (p.Ser673Pro) c.2479T>C (p.Ser827Pro) c.2416T>C (p.Ser806Pro) c.2413T>C (p.Ser805Pro) c.2371T>C (p.Ser791Pro) c.1444T>C (p.Ser482Pro) | |
20 | g.63406835A>T | CA409637125 | KCNQ2 | c.2482T>A (p.Ser828Thr) c.2428T>A (p.Ser810Thr) c.1825T>A (p.Ser609Thr) c.2335T>A (p.Ser779Thr) c.1996T>A (p.Ser666Thr) c.2344T>A (p.Ser782Thr) c.2241+211T>A (n.2241+211T>A) c.2205+211T>A (n.2205+211T>A) c.2374T>A (p.Ser792Thr) c.2133+211T>A (n.2133+211T>A) c.1680-5992T>A (n.1680-5992T>A) c.2470T>A (p.Ser824Thr) c.2536T>A (p.Ser846Thr) c.2533T>A (p.Ser845Thr) c.2506T>A (p.Ser836Thr) c.2452T>A (p.Ser818Thr) c.2425T>A (p.Ser809Thr) c.2410T>A (p.Ser804Thr) c.2017T>A (p.Ser673Thr) c.2479T>A (p.Ser827Thr) c.2416T>A (p.Ser806Thr) c.2413T>A (p.Ser805Thr) c.2371T>A (p.Ser791Thr) c.1444T>A (p.Ser482Thr) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.63406836C>A | CA409637126 | KCNQ2 | c.2481G>T (p.Gln827His) c.2427G>T (p.Gln809His) c.1824G>T (p.Gln608His) c.2334G>T (p.Gln778His) c.1995G>T (p.Gln665His) c.2343G>T (p.Gln781His) c.2241+210G>T (n.2241+210G>T) c.2205+210G>T (n.2205+210G>T) c.2373G>T (p.Gln791His) c.2133+210G>T (n.2133+210G>T) c.1680-5993G>T (n.1680-5993G>T) c.2469G>T (p.Gln823His) c.2535G>T (p.Gln845His) c.2532G>T (p.Gln844His) c.2505G>T (p.Gln835His) c.2451G>T (p.Gln817His) c.2424G>T (p.Gln808His) c.2409G>T (p.Gln803His) c.2016G>T (p.Gln672His) c.2478G>T (p.Gln826His) c.2415G>T (p.Gln805His) c.2412G>T (p.Gln804His) c.2370G>T (p.Gln790His) c.1443G>T (p.Gln481His) | |
20 | g.63406836C= | CA2374774265 | KCNQ2 | c.2481G= (p.Gln827=) c.2427G= (p.Gln809=) c.1824G= (p.Gln608=) c.2334G= (p.Gln778=) c.1995G= (p.Gln665=) c.2343G= (p.Gln781=) c.2241+210G= (n.2241+210G=) c.2205+210G= (n.2205+210G=) c.2373G= (p.Gln791=) c.2133+210G= (n.2133+210G=) c.1680-5993G= (n.1680-5993G=) c.2469G= (p.Gln823=) c.2535G= (p.Gln845=) c.2532G= (p.Gln844=) c.2505G= (p.Gln835=) c.2451G= (p.Gln817=) c.2424G= (p.Gln808=) c.2409G= (p.Gln803=) c.2016G= (p.Gln672=) c.2478G= (p.Gln826=) c.2415G= (p.Gln805=) c.2412G= (p.Gln804=) c.2370G= (p.Gln790=) c.1443G= (p.Gln481=) | |
20 | g.63406836C>G | CA409637128 | KCNQ2 | c.2481G>C (p.Gln827His) c.2427G>C (p.Gln809His) c.1824G>C (p.Gln608His) c.2334G>C (p.Gln778His) c.1995G>C (p.Gln665His) c.2343G>C (p.Gln781His) c.2241+210G>C (n.2241+210G>C) c.2205+210G>C (n.2205+210G>C) c.2373G>C (p.Gln791His) c.2133+210G>C (n.2133+210G>C) c.1680-5993G>C (n.1680-5993G>C) c.2469G>C (p.Gln823His) c.2535G>C (p.Gln845His) c.2532G>C (p.Gln844His) c.2505G>C (p.Gln835His) c.2451G>C (p.Gln817His) c.2424G>C (p.Gln808His) c.2409G>C (p.Gln803His) c.2016G>C (p.Gln672His) c.2478G>C (p.Gln826His) c.2415G>C (p.Gln805His) c.2412G>C (p.Gln804His) c.2370G>C (p.Gln790His) c.1443G>C (p.Gln481His) | |
20 | g.63406836C>T | CA511339394 | KCNQ2 | c.2481G>A (p.Gln827=) c.2427G>A (p.Gln809=) c.1824G>A (p.Gln608=) c.2334G>A (p.Gln778=) c.1995G>A (p.Gln665=) c.2343G>A (p.Gln781=) c.2241+210G>A (n.2241+210G>A) c.2205+210G>A (n.2205+210G>A) c.2373G>A (p.Gln791=) c.2133+210G>A (n.2133+210G>A) c.1680-5993G>A (n.1680-5993G>A) c.2469G>A (p.Gln823=) c.2535G>A (p.Gln845=) c.2532G>A (p.Gln844=) c.2505G>A (p.Gln835=) c.2451G>A (p.Gln817=) c.2424G>A (p.Gln808=) c.2409G>A (p.Gln803=) c.2016G>A (p.Gln672=) c.2478G>A (p.Gln826=) c.2415G>A (p.Gln805=) c.2412G>A (p.Gln804=) c.2370G>A (p.Gln790=) c.1443G>A (p.Gln481=) | dbSNP gnomAD v4 |
20 | g.63406837T>A | CA9958077 | KCNQ2 | c.2480A>T (p.Gln827Leu) c.2426A>T (p.Gln809Leu) c.1823A>T (p.Gln608Leu) c.2333A>T (p.Gln778Leu) c.1994A>T (p.Gln665Leu) c.2342A>T (p.Gln781Leu) c.2241+209A>T (n.2241+209A>T) c.2205+209A>T (n.2205+209A>T) c.2372A>T (p.Gln791Leu) c.2133+209A>T (n.2133+209A>T) c.1680-5994A>T (n.1680-5994A>T) c.2468A>T (p.Gln823Leu) c.2534A>T (p.Gln845Leu) c.2531A>T (p.Gln844Leu) c.2504A>T (p.Gln835Leu) c.2450A>T (p.Gln817Leu) c.2423A>T (p.Gln808Leu) c.2408A>T (p.Gln803Leu) c.2015A>T (p.Gln672Leu) c.2477A>T (p.Gln826Leu) c.2414A>T (p.Gln805Leu) c.2411A>T (p.Gln804Leu) c.2369A>T (p.Gln790Leu) c.1442A>T (p.Gln481Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406837T>C | CA409637131 | KCNQ2 | c.2480A>G (p.Gln827Arg) c.2426A>G (p.Gln809Arg) c.1823A>G (p.Gln608Arg) c.2333A>G (p.Gln778Arg) c.1994A>G (p.Gln665Arg) c.2342A>G (p.Gln781Arg) c.2241+209A>G (n.2241+209A>G) c.2205+209A>G (n.2205+209A>G) c.2372A>G (p.Gln791Arg) c.2133+209A>G (n.2133+209A>G) c.1680-5994A>G (n.1680-5994A>G) c.2468A>G (p.Gln823Arg) c.2534A>G (p.Gln845Arg) c.2531A>G (p.Gln844Arg) c.2504A>G (p.Gln835Arg) c.2450A>G (p.Gln817Arg) c.2423A>G (p.Gln808Arg) c.2408A>G (p.Gln803Arg) c.2015A>G (p.Gln672Arg) c.2477A>G (p.Gln826Arg) c.2414A>G (p.Gln805Arg) c.2411A>G (p.Gln804Arg) c.2369A>G (p.Gln790Arg) c.1442A>G (p.Gln481Arg) | |
20 | g.63406837T>G | CA409637132 | KCNQ2 | c.2480A>C (p.Gln827Pro) c.2426A>C (p.Gln809Pro) c.1823A>C (p.Gln608Pro) c.2333A>C (p.Gln778Pro) c.1994A>C (p.Gln665Pro) c.2342A>C (p.Gln781Pro) c.2241+209A>C (n.2241+209A>C) c.2205+209A>C (n.2205+209A>C) c.2372A>C (p.Gln791Pro) c.2133+209A>C (n.2133+209A>C) c.1680-5994A>C (n.1680-5994A>C) c.2468A>C (p.Gln823Pro) c.2534A>C (p.Gln845Pro) c.2531A>C (p.Gln844Pro) c.2504A>C (p.Gln835Pro) c.2450A>C (p.Gln817Pro) c.2423A>C (p.Gln808Pro) c.2408A>C (p.Gln803Pro) c.2015A>C (p.Gln672Pro) c.2477A>C (p.Gln826Pro) c.2414A>C (p.Gln805Pro) c.2411A>C (p.Gln804Pro) c.2369A>C (p.Gln790Pro) c.1442A>C (p.Gln481Pro) | |
20 | g.63406837T= | CA2374774266 | KCNQ2 | c.2480A= (p.Gln827=) c.2426A= (p.Gln809=) c.1823A= (p.Gln608=) c.2333A= (p.Gln778=) c.1994A= (p.Gln665=) c.2342A= (p.Gln781=) c.2241+209A= (n.2241+209A=) c.2205+209A= (n.2205+209A=) c.2372A= (p.Gln791=) c.2133+209A= (n.2133+209A=) c.1680-5994A= (n.1680-5994A=) c.2468A= (p.Gln823=) c.2534A= (p.Gln845=) c.2531A= (p.Gln844=) c.2504A= (p.Gln835=) c.2450A= (p.Gln817=) c.2423A= (p.Gln808=) c.2408A= (p.Gln803=) c.2015A= (p.Gln672=) c.2477A= (p.Gln826=) c.2414A= (p.Gln805=) c.2411A= (p.Gln804=) c.2369A= (p.Gln790=) c.1442A= (p.Gln481=) | |
20 | g.63406837_63406838delinsTG | CA2374774267 | KCNQ2 | c.2479_2480delinsCA (p.Gln827=) c.2425_2426delinsCA (p.Gln809=) c.1822_1823delinsCA (p.Gln608=) c.2332_2333delinsCA (p.Gln778=) c.1993_1994delinsCA (p.Gln665=) c.2341_2342delinsCA (p.Gln781=) c.2241+208_2241+209delinsCA (n.2241+208_2241+209delinsCA) c.2205+208_2205+209delinsCA (n.2205+208_2205+209delinsCA) c.2371_2372delinsCA (p.Gln791=) c.2133+208_2133+209delinsCA (n.2133+208_2133+209delinsCA) c.1680-5995_1680-5994delinsCA (n.1680-5995_1680-5994delinsCA) c.2467_2468delinsCA (p.Gln823=) c.2533_2534delinsCA (p.Gln845=) c.2530_2531delinsCA (p.Gln844=) c.2503_2504delinsCA (p.Gln835=) c.2449_2450delinsCA (p.Gln817=) c.2422_2423delinsCA (p.Gln808=) c.2407_2408delinsCA (p.Gln803=) c.2014_2015delinsCA (p.Gln672=) c.2476_2477delinsCA (p.Gln826=) c.2413_2414delinsCA (p.Gln805=) c.2410_2411delinsCA (p.Gln804=) c.2368_2369delinsCA (p.Gln790=) c.1441_1442delinsCA (p.Gln481=) | |
20 | g.63406838G>A | CA409637135 | KCNQ2 | c.2479C>T (p.Gln827Ter) c.2425C>T (p.Gln809Ter) c.1822C>T (p.Gln608Ter) c.2332C>T (p.Gln778Ter) c.1993C>T (p.Gln665Ter) c.2341C>T (p.Gln781Ter) c.2241+208C>T (n.2241+208C>T) c.2205+208C>T (n.2205+208C>T) c.2371C>T (p.Gln791Ter) c.2133+208C>T (n.2133+208C>T) c.1680-5995C>T (n.1680-5995C>T) c.2467C>T (p.Gln823Ter) c.2533C>T (p.Gln845Ter) c.2530C>T (p.Gln844Ter) c.2503C>T (p.Gln835Ter) c.2449C>T (p.Gln817Ter) c.2422C>T (p.Gln808Ter) c.2407C>T (p.Gln803Ter) c.2014C>T (p.Gln672Ter) c.2476C>T (p.Gln826Ter) c.2413C>T (p.Gln805Ter) c.2410C>T (p.Gln804Ter) c.2368C>T (p.Gln790Ter) c.1441C>T (p.Gln481Ter) | ClinVar |
20 | g.63406838G>C | CA409637137 | KCNQ2 | c.2479C>G (p.Gln827Glu) c.2425C>G (p.Gln809Glu) c.1822C>G (p.Gln608Glu) c.2332C>G (p.Gln778Glu) c.1993C>G (p.Gln665Glu) c.2341C>G (p.Gln781Glu) c.2241+208C>G (n.2241+208C>G) c.2205+208C>G (n.2205+208C>G) c.2371C>G (p.Gln791Glu) c.2133+208C>G (n.2133+208C>G) c.1680-5995C>G (n.1680-5995C>G) c.2467C>G (p.Gln823Glu) c.2533C>G (p.Gln845Glu) c.2530C>G (p.Gln844Glu) c.2503C>G (p.Gln835Glu) c.2449C>G (p.Gln817Glu) c.2422C>G (p.Gln808Glu) c.2407C>G (p.Gln803Glu) c.2014C>G (p.Gln672Glu) c.2476C>G (p.Gln826Glu) c.2413C>G (p.Gln805Glu) c.2410C>G (p.Gln804Glu) c.2368C>G (p.Gln790Glu) c.1441C>G (p.Gln481Glu) | |
20 | g.63406838G>T | CA409637139 | KCNQ2 | c.2479C>A (p.Gln827Lys) c.2425C>A (p.Gln809Lys) c.1822C>A (p.Gln608Lys) c.2332C>A (p.Gln778Lys) c.1993C>A (p.Gln665Lys) c.2341C>A (p.Gln781Lys) c.2241+208C>A (n.2241+208C>A) c.2205+208C>A (n.2205+208C>A) c.2371C>A (p.Gln791Lys) c.2133+208C>A (n.2133+208C>A) c.1680-5995C>A (n.1680-5995C>A) c.2467C>A (p.Gln823Lys) c.2533C>A (p.Gln845Lys) c.2530C>A (p.Gln844Lys) c.2503C>A (p.Gln835Lys) c.2449C>A (p.Gln817Lys) c.2422C>A (p.Gln808Lys) c.2407C>A (p.Gln803Lys) c.2014C>A (p.Gln672Lys) c.2476C>A (p.Gln826Lys) c.2413C>A (p.Gln805Lys) c.2410C>A (p.Gln804Lys) c.2368C>A (p.Gln790Lys) c.1441C>A (p.Gln481Lys) | |
20 | g.63406840del | CA16043700 | KCNQ2 | c.2479del (p.Gln827SerfsTer?) c.2425del (p.Gln809SerfsTer?) c.1822del (p.Gln608SerfsTer?) c.2332del (p.Gln778SerfsTer?) c.1993del (p.Gln665SerfsTer?) c.2341del (p.Gln781SerfsTer?) c.2241+208del (n.2241+208del) c.2205+208del (n.2205+208del) c.2371del (p.Gln791SerfsTer?) c.2133+208del (n.2133+208del) c.1680-5995del (n.1680-5995del) c.2467del (p.Gln823SerfsTer?) c.2533del (p.Gln845SerfsTer?) c.2530del (p.Gln844SerfsTer?) c.2503del (p.Gln835SerfsTer?) c.2449del (p.Gln817SerfsTer?) c.2422del (p.Gln808SerfsTer?) c.2407del (p.Gln803SerfsTer?) c.2014del (p.Gln672SerfsTer?) c.2476del (p.Gln826SerfsTer?) c.2413del (p.Gln805SerfsTer?) c.2410del (p.Gln804SerfsTer?) c.2368del (p.Gln790SerfsTer?) c.1441del (p.Gln481SerfsTer?) | ClinVar dbSNP |
20 | g.63406839_63406840del | CA1019288247 | KCNQ2 | c.2478_2479del (p.Gln827ValfsTer?) c.2424_2425del (p.Gln809ValfsTer?) c.1821_1822del (p.Gln608ValfsTer?) c.2331_2332del (p.Gln778ValfsTer?) c.1992_1993del (p.Gln665ValfsTer?) c.2340_2341del (p.Gln781ValfsTer?) c.2241+207_2241+208del (n.2241+207_2241+208del) c.2205+207_2205+208del (n.2205+207_2205+208del) c.2370_2371del (p.Gln791ValfsTer?) c.2133+207_2133+208del (n.2133+207_2133+208del) c.1680-5996_1680-5995del (n.1680-5996_1680-5995del) c.2466_2467del (p.Gln823ValfsTer?) c.2532_2533del (p.Gln845ValfsTer?) c.2529_2530del (p.Gln844ValfsTer?) c.2502_2503del (p.Gln835ValfsTer?) c.2448_2449del (p.Gln817ValfsTer?) c.2421_2422del (p.Gln808ValfsTer?) c.2406_2407del (p.Gln803ValfsTer?) c.2013_2014del (p.Gln672ValfsTer?) c.2475_2476del (p.Gln826ValfsTer?) c.2412_2413del (p.Gln805ValfsTer?) c.2409_2410del (p.Gln804ValfsTer?) c.2367_2368del (p.Gln790ValfsTer?) c.1440_1441del (p.Gln481ValfsTer?) | gnomAD v3 gnomAD v4 |
20 | g.63406839G>A | CA511339398 | KCNQ2 | c.2478C>T (p.Ser826=) c.2424C>T (p.Ser808=) c.1821C>T (p.Ser607=) c.2331C>T (p.Ser777=) c.1992C>T (p.Ser664=) c.2340C>T (p.Ser780=) c.2241+207C>T (n.2241+207C>T) c.2205+207C>T (n.2205+207C>T) c.2370C>T (p.Ser790=) c.2133+207C>T (n.2133+207C>T) c.1680-5996C>T (n.1680-5996C>T) c.2466C>T (p.Ser822=) c.2532C>T (p.Ser844=) c.2529C>T (p.Ser843=) c.2502C>T (p.Ser834=) c.2448C>T (p.Ser816=) c.2421C>T (p.Ser807=) c.2406C>T (p.Ser802=) c.2013C>T (p.Ser671=) c.2475C>T (p.Ser825=) c.2412C>T (p.Ser804=) c.2409C>T (p.Ser803=) c.2367C>T (p.Ser789=) c.1440C>T (p.Ser480=) | ClinVar dbSNP |
20 | g.63406839G>C | CA511339402 | KCNQ2 | c.2478C>G (p.Ser826=) c.2424C>G (p.Ser808=) c.1821C>G (p.Ser607=) c.2331C>G (p.Ser777=) c.1992C>G (p.Ser664=) c.2340C>G (p.Ser780=) c.2241+207C>G (n.2241+207C>G) c.2205+207C>G (n.2205+207C>G) c.2370C>G (p.Ser790=) c.2133+207C>G (n.2133+207C>G) c.1680-5996C>G (n.1680-5996C>G) c.2466C>G (p.Ser822=) c.2532C>G (p.Ser844=) c.2529C>G (p.Ser843=) c.2502C>G (p.Ser834=) c.2448C>G (p.Ser816=) c.2421C>G (p.Ser807=) c.2406C>G (p.Ser802=) c.2013C>G (p.Ser671=) c.2475C>G (p.Ser825=) c.2412C>G (p.Ser804=) c.2409C>G (p.Ser803=) c.2367C>G (p.Ser789=) c.1440C>G (p.Ser480=) | |
20 | g.63406839G>T | CA511339403 | KCNQ2 | c.2478C>A (p.Ser826=) c.2424C>A (p.Ser808=) c.1821C>A (p.Ser607=) c.2331C>A (p.Ser777=) c.1992C>A (p.Ser664=) c.2340C>A (p.Ser780=) c.2241+207C>A (n.2241+207C>A) c.2205+207C>A (n.2205+207C>A) c.2370C>A (p.Ser790=) c.2133+207C>A (n.2133+207C>A) c.1680-5996C>A (n.1680-5996C>A) c.2466C>A (p.Ser822=) c.2532C>A (p.Ser844=) c.2529C>A (p.Ser843=) c.2502C>A (p.Ser834=) c.2448C>A (p.Ser816=) c.2421C>A (p.Ser807=) c.2406C>A (p.Ser802=) c.2013C>A (p.Ser671=) c.2475C>A (p.Ser825=) c.2412C>A (p.Ser804=) c.2409C>A (p.Ser803=) c.2367C>A (p.Ser789=) c.1440C>A (p.Ser480=) | |
20 | g.63406840G>A | CA409637145 | KCNQ2 | c.2477C>T (p.Ser826Phe) c.2423C>T (p.Ser808Phe) c.1820C>T (p.Ser607Phe) c.2330C>T (p.Ser777Phe) c.1991C>T (p.Ser664Phe) c.2339C>T (p.Ser780Phe) c.2241+206C>T (n.2241+206C>T) c.2205+206C>T (n.2205+206C>T) c.2369C>T (p.Ser790Phe) c.2133+206C>T (n.2133+206C>T) c.1680-5997C>T (n.1680-5997C>T) c.2465C>T (p.Ser822Phe) c.2531C>T (p.Ser844Phe) c.2528C>T (p.Ser843Phe) c.2501C>T (p.Ser834Phe) c.2447C>T (p.Ser816Phe) c.2420C>T (p.Ser807Phe) c.2405C>T (p.Ser802Phe) c.2012C>T (p.Ser671Phe) c.2474C>T (p.Ser825Phe) c.2411C>T (p.Ser804Phe) c.2408C>T (p.Ser803Phe) c.2366C>T (p.Ser789Phe) c.1439C>T (p.Ser480Phe) | gnomAD v4 |
20 | g.63406840G>C | CA409637142 | KCNQ2 | c.2477C>G (p.Ser826Cys) c.2423C>G (p.Ser808Cys) c.1820C>G (p.Ser607Cys) c.2330C>G (p.Ser777Cys) c.1991C>G (p.Ser664Cys) c.2339C>G (p.Ser780Cys) c.2241+206C>G (n.2241+206C>G) c.2205+206C>G (n.2205+206C>G) c.2369C>G (p.Ser790Cys) c.2133+206C>G (n.2133+206C>G) c.1680-5997C>G (n.1680-5997C>G) c.2465C>G (p.Ser822Cys) c.2531C>G (p.Ser844Cys) c.2528C>G (p.Ser843Cys) c.2501C>G (p.Ser834Cys) c.2447C>G (p.Ser816Cys) c.2420C>G (p.Ser807Cys) c.2405C>G (p.Ser802Cys) c.2012C>G (p.Ser671Cys) c.2474C>G (p.Ser825Cys) c.2411C>G (p.Ser804Cys) c.2408C>G (p.Ser803Cys) c.2366C>G (p.Ser789Cys) c.1439C>G (p.Ser480Cys) | |
20 | g.63406840G>T | CA409637144 | KCNQ2 | c.2477C>A (p.Ser826Tyr) c.2423C>A (p.Ser808Tyr) c.1820C>A (p.Ser607Tyr) c.2330C>A (p.Ser777Tyr) c.1991C>A (p.Ser664Tyr) c.2339C>A (p.Ser780Tyr) c.2241+206C>A (n.2241+206C>A) c.2205+206C>A (n.2205+206C>A) c.2369C>A (p.Ser790Tyr) c.2133+206C>A (n.2133+206C>A) c.1680-5997C>A (n.1680-5997C>A) c.2465C>A (p.Ser822Tyr) c.2531C>A (p.Ser844Tyr) c.2528C>A (p.Ser843Tyr) c.2501C>A (p.Ser834Tyr) c.2447C>A (p.Ser816Tyr) c.2420C>A (p.Ser807Tyr) c.2405C>A (p.Ser802Tyr) c.2012C>A (p.Ser671Tyr) c.2474C>A (p.Ser825Tyr) c.2411C>A (p.Ser804Tyr) c.2408C>A (p.Ser803Tyr) c.2366C>A (p.Ser789Tyr) c.1439C>A (p.Ser480Tyr) | gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63406841A>C | CA409637151 | KCNQ2 | c.2476T>G (p.Ser826Ala) c.2422T>G (p.Ser808Ala) c.1819T>G (p.Ser607Ala) c.2329T>G (p.Ser777Ala) c.1990T>G (p.Ser664Ala) c.2338T>G (p.Ser780Ala) c.2241+205T>G (n.2241+205T>G) c.2205+205T>G (n.2205+205T>G) c.2368T>G (p.Ser790Ala) c.2133+205T>G (n.2133+205T>G) c.1680-5998T>G (n.1680-5998T>G) c.2464T>G (p.Ser822Ala) c.2530T>G (p.Ser844Ala) c.2527T>G (p.Ser843Ala) c.2500T>G (p.Ser834Ala) c.2446T>G (p.Ser816Ala) c.2419T>G (p.Ser807Ala) c.2404T>G (p.Ser802Ala) c.2011T>G (p.Ser671Ala) c.2473T>G (p.Ser825Ala) c.2410T>G (p.Ser804Ala) c.2407T>G (p.Ser803Ala) c.2365T>G (p.Ser789Ala) c.1438T>G (p.Ser480Ala) | |
20 | g.63406841A>G | CA409637153 | KCNQ2 | c.2476T>C (p.Ser826Pro) c.2422T>C (p.Ser808Pro) c.1819T>C (p.Ser607Pro) c.2329T>C (p.Ser777Pro) c.1990T>C (p.Ser664Pro) c.2338T>C (p.Ser780Pro) c.2241+205T>C (n.2241+205T>C) c.2205+205T>C (n.2205+205T>C) c.2368T>C (p.Ser790Pro) c.2133+205T>C (n.2133+205T>C) c.1680-5998T>C (n.1680-5998T>C) c.2464T>C (p.Ser822Pro) c.2530T>C (p.Ser844Pro) c.2527T>C (p.Ser843Pro) c.2500T>C (p.Ser834Pro) c.2446T>C (p.Ser816Pro) c.2419T>C (p.Ser807Pro) c.2404T>C (p.Ser802Pro) c.2011T>C (p.Ser671Pro) c.2473T>C (p.Ser825Pro) c.2410T>C (p.Ser804Pro) c.2407T>C (p.Ser803Pro) c.2365T>C (p.Ser789Pro) c.1438T>C (p.Ser480Pro) | gnomAD v4 |
20 | g.63406841A>T | CA409637154 | KCNQ2 | c.2476T>A (p.Ser826Thr) c.2422T>A (p.Ser808Thr) c.1819T>A (p.Ser607Thr) c.2329T>A (p.Ser777Thr) c.1990T>A (p.Ser664Thr) c.2338T>A (p.Ser780Thr) c.2241+205T>A (n.2241+205T>A) c.2205+205T>A (n.2205+205T>A) c.2368T>A (p.Ser790Thr) c.2133+205T>A (n.2133+205T>A) c.1680-5998T>A (n.1680-5998T>A) c.2464T>A (p.Ser822Thr) c.2530T>A (p.Ser844Thr) c.2527T>A (p.Ser843Thr) c.2500T>A (p.Ser834Thr) c.2446T>A (p.Ser816Thr) c.2419T>A (p.Ser807Thr) c.2404T>A (p.Ser802Thr) c.2011T>A (p.Ser671Thr) c.2473T>A (p.Ser825Thr) c.2410T>A (p.Ser804Thr) c.2407T>A (p.Ser803Thr) c.2365T>A (p.Ser789Thr) c.1438T>A (p.Ser480Thr) | |
20 | g.63406842G>A | CA9958078 | KCNQ2 | c.2475C>T (p.Ile825=) c.2421C>T (p.Ile807=) c.1818C>T (p.Ile606=) c.2328C>T (p.Ile776=) c.1989C>T (p.Ile663=) c.2337C>T (p.Ile779=) c.2241+204C>T (n.2241+204C>T) c.2205+204C>T (n.2205+204C>T) c.2367C>T (p.Ile789=) c.2133+204C>T (n.2133+204C>T) c.1680-5999C>T (n.1680-5999C>T) c.2463C>T (p.Ile821=) c.2529C>T (p.Ile843=) c.2526C>T (p.Ile842=) c.2499C>T (p.Ile833=) c.2445C>T (p.Ile815=) c.2418C>T (p.Ile806=) c.2403C>T (p.Ile801=) c.2010C>T (p.Ile670=) c.2472C>T (p.Ile824=) c.2409C>T (p.Ile803=) c.2406C>T (p.Ile802=) c.2364C>T (p.Ile788=) c.1437C>T (p.Ile479=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406842G>C | CA409637157 | KCNQ2 | c.2475C>G (p.Ile825Met) c.2421C>G (p.Ile807Met) c.1818C>G (p.Ile606Met) c.2328C>G (p.Ile776Met) c.1989C>G (p.Ile663Met) c.2337C>G (p.Ile779Met) c.2241+204C>G (n.2241+204C>G) c.2205+204C>G (n.2205+204C>G) c.2367C>G (p.Ile789Met) c.2133+204C>G (n.2133+204C>G) c.1680-5999C>G (n.1680-5999C>G) c.2463C>G (p.Ile821Met) c.2529C>G (p.Ile843Met) c.2526C>G (p.Ile842Met) c.2499C>G (p.Ile833Met) c.2445C>G (p.Ile815Met) c.2418C>G (p.Ile806Met) c.2403C>G (p.Ile801Met) c.2010C>G (p.Ile670Met) c.2472C>G (p.Ile824Met) c.2409C>G (p.Ile803Met) c.2406C>G (p.Ile802Met) c.2364C>G (p.Ile788Met) c.1437C>G (p.Ile479Met) | |
20 | g.63406842G= | CA2374774268 | KCNQ2 | c.2475C= (p.Ile825=) c.2421C= (p.Ile807=) c.1818C= (p.Ile606=) c.2328C= (p.Ile776=) c.1989C= (p.Ile663=) c.2337C= (p.Ile779=) c.2241+204C= (n.2241+204C=) c.2205+204C= (n.2205+204C=) c.2367C= (p.Ile789=) c.2133+204C= (n.2133+204C=) c.1680-5999C= (n.1680-5999C=) c.2463C= (p.Ile821=) c.2529C= (p.Ile843=) c.2526C= (p.Ile842=) c.2499C= (p.Ile833=) c.2445C= (p.Ile815=) c.2418C= (p.Ile806=) c.2403C= (p.Ile801=) c.2010C= (p.Ile670=) c.2472C= (p.Ile824=) c.2409C= (p.Ile803=) c.2406C= (p.Ile802=) c.2364C= (p.Ile788=) c.1437C= (p.Ile479=) | |
20 | g.63406842G>T | CA511339406 | KCNQ2 | c.2475C>A (p.Ile825=) c.2421C>A (p.Ile807=) c.1818C>A (p.Ile606=) c.2328C>A (p.Ile776=) c.1989C>A (p.Ile663=) c.2337C>A (p.Ile779=) c.2241+204C>A (n.2241+204C>A) c.2205+204C>A (n.2205+204C>A) c.2367C>A (p.Ile789=) c.2133+204C>A (n.2133+204C>A) c.1680-5999C>A (n.1680-5999C>A) c.2463C>A (p.Ile821=) c.2529C>A (p.Ile843=) c.2526C>A (p.Ile842=) c.2499C>A (p.Ile833=) c.2445C>A (p.Ile815=) c.2418C>A (p.Ile806=) c.2403C>A (p.Ile801=) c.2010C>A (p.Ile670=) c.2472C>A (p.Ile824=) c.2409C>A (p.Ile803=) c.2406C>A (p.Ile802=) c.2364C>A (p.Ile788=) c.1437C>A (p.Ile479=) | |
20 | g.63406843A>C | CA409637160 | KCNQ2 | c.2474T>G (p.Ile825Ser) c.2420T>G (p.Ile807Ser) c.1817T>G (p.Ile606Ser) c.2327T>G (p.Ile776Ser) c.1988T>G (p.Ile663Ser) c.2336T>G (p.Ile779Ser) c.2241+203T>G (n.2241+203T>G) c.2205+203T>G (n.2205+203T>G) c.2366T>G (p.Ile789Ser) c.2133+203T>G (n.2133+203T>G) c.1680-6000T>G (n.1680-6000T>G) c.2462T>G (p.Ile821Ser) c.2528T>G (p.Ile843Ser) c.2525T>G (p.Ile842Ser) c.2498T>G (p.Ile833Ser) c.2444T>G (p.Ile815Ser) c.2417T>G (p.Ile806Ser) c.2402T>G (p.Ile801Ser) c.2009T>G (p.Ile670Ser) c.2471T>G (p.Ile824Ser) c.2408T>G (p.Ile803Ser) c.2405T>G (p.Ile802Ser) c.2363T>G (p.Ile788Ser) c.1436T>G (p.Ile479Ser) | |
20 | g.63406843A>G | CA409637162 | KCNQ2 | c.2474T>C (p.Ile825Thr) c.2420T>C (p.Ile807Thr) c.1817T>C (p.Ile606Thr) c.2327T>C (p.Ile776Thr) c.1988T>C (p.Ile663Thr) c.2336T>C (p.Ile779Thr) c.2241+203T>C (n.2241+203T>C) c.2205+203T>C (n.2205+203T>C) c.2366T>C (p.Ile789Thr) c.2133+203T>C (n.2133+203T>C) c.1680-6000T>C (n.1680-6000T>C) c.2462T>C (p.Ile821Thr) c.2528T>C (p.Ile843Thr) c.2525T>C (p.Ile842Thr) c.2498T>C (p.Ile833Thr) c.2444T>C (p.Ile815Thr) c.2417T>C (p.Ile806Thr) c.2402T>C (p.Ile801Thr) c.2009T>C (p.Ile670Thr) c.2471T>C (p.Ile824Thr) c.2408T>C (p.Ile803Thr) c.2405T>C (p.Ile802Thr) c.2363T>C (p.Ile788Thr) c.1436T>C (p.Ile479Thr) | gnomAD v4 |
20 | g.63406843A>T | CA409637163 | KCNQ2 | c.2474T>A (p.Ile825Asn) c.2420T>A (p.Ile807Asn) c.1817T>A (p.Ile606Asn) c.2327T>A (p.Ile776Asn) c.1988T>A (p.Ile663Asn) c.2336T>A (p.Ile779Asn) c.2241+203T>A (n.2241+203T>A) c.2205+203T>A (n.2205+203T>A) c.2366T>A (p.Ile789Asn) c.2133+203T>A (n.2133+203T>A) c.1680-6000T>A (n.1680-6000T>A) c.2462T>A (p.Ile821Asn) c.2528T>A (p.Ile843Asn) c.2525T>A (p.Ile842Asn) c.2498T>A (p.Ile833Asn) c.2444T>A (p.Ile815Asn) c.2417T>A (p.Ile806Asn) c.2402T>A (p.Ile801Asn) c.2009T>A (p.Ile670Asn) c.2471T>A (p.Ile824Asn) c.2408T>A (p.Ile803Asn) c.2405T>A (p.Ile802Asn) c.2363T>A (p.Ile788Asn) c.1436T>A (p.Ile479Asn) | |
20 | g.63406844T>A | CA409637166 | KCNQ2 | c.2473A>T (p.Ile825Phe) c.2419A>T (p.Ile807Phe) c.1816A>T (p.Ile606Phe) c.2326A>T (p.Ile776Phe) c.1987A>T (p.Ile663Phe) c.2335A>T (p.Ile779Phe) c.2241+202A>T (n.2241+202A>T) c.2205+202A>T (n.2205+202A>T) c.2365A>T (p.Ile789Phe) c.2133+202A>T (n.2133+202A>T) c.1680-6001A>T (n.1680-6001A>T) c.2461A>T (p.Ile821Phe) c.2527A>T (p.Ile843Phe) c.2524A>T (p.Ile842Phe) c.2497A>T (p.Ile833Phe) c.2443A>T (p.Ile815Phe) c.2416A>T (p.Ile806Phe) c.2401A>T (p.Ile801Phe) c.2008A>T (p.Ile670Phe) c.2470A>T (p.Ile824Phe) c.2407A>T (p.Ile803Phe) c.2404A>T (p.Ile802Phe) c.2362A>T (p.Ile788Phe) c.1435A>T (p.Ile479Phe) | |
20 | g.63406844T>C | CA409637168 | KCNQ2 | c.2473A>G (p.Ile825Val) c.2419A>G (p.Ile807Val) c.1816A>G (p.Ile606Val) c.2326A>G (p.Ile776Val) c.1987A>G (p.Ile663Val) c.2335A>G (p.Ile779Val) c.2241+202A>G (n.2241+202A>G) c.2205+202A>G (n.2205+202A>G) c.2365A>G (p.Ile789Val) c.2133+202A>G (n.2133+202A>G) c.1680-6001A>G (n.1680-6001A>G) c.2461A>G (p.Ile821Val) c.2527A>G (p.Ile843Val) c.2524A>G (p.Ile842Val) c.2497A>G (p.Ile833Val) c.2443A>G (p.Ile815Val) c.2416A>G (p.Ile806Val) c.2401A>G (p.Ile801Val) c.2008A>G (p.Ile670Val) c.2470A>G (p.Ile824Val) c.2407A>G (p.Ile803Val) c.2404A>G (p.Ile802Val) c.2362A>G (p.Ile788Val) c.1435A>G (p.Ile479Val) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63406844T>G | CA409637169 | KCNQ2 | c.2473A>C (p.Ile825Leu) c.2419A>C (p.Ile807Leu) c.1816A>C (p.Ile606Leu) c.2326A>C (p.Ile776Leu) c.1987A>C (p.Ile663Leu) c.2335A>C (p.Ile779Leu) c.2241+202A>C (n.2241+202A>C) c.2205+202A>C (n.2205+202A>C) c.2365A>C (p.Ile789Leu) c.2133+202A>C (n.2133+202A>C) c.1680-6001A>C (n.1680-6001A>C) c.2461A>C (p.Ile821Leu) c.2527A>C (p.Ile843Leu) c.2524A>C (p.Ile842Leu) c.2497A>C (p.Ile833Leu) c.2443A>C (p.Ile815Leu) c.2416A>C (p.Ile806Leu) c.2401A>C (p.Ile801Leu) c.2008A>C (p.Ile670Leu) c.2470A>C (p.Ile824Leu) c.2407A>C (p.Ile803Leu) c.2404A>C (p.Ile802Leu) c.2362A>C (p.Ile788Leu) c.1435A>C (p.Ile479Leu) | ClinVar dbSNP |
20 | g.63406844T= | CA2374774269 | KCNQ2 | c.2473A= (p.Ile825=) c.2419A= (p.Ile807=) c.1816A= (p.Ile606=) c.2326A= (p.Ile776=) c.1987A= (p.Ile663=) c.2335A= (p.Ile779=) c.2241+202A= (n.2241+202A=) c.2205+202A= (n.2205+202A=) c.2365A= (p.Ile789=) c.2133+202A= (n.2133+202A=) c.1680-6001A= (n.1680-6001A=) c.2461A= (p.Ile821=) c.2527A= (p.Ile843=) c.2524A= (p.Ile842=) c.2497A= (p.Ile833=) c.2443A= (p.Ile815=) c.2416A= (p.Ile806=) c.2401A= (p.Ile801=) c.2008A= (p.Ile670=) c.2470A= (p.Ile824=) c.2407A= (p.Ile803=) c.2404A= (p.Ile802=) c.2362A= (p.Ile788=) c.1435A= (p.Ile479=) | |
20 | g.63406845del | CA2573157287 | KCNQ2 | c.2472del (p.Ser824ArgfsTer?) c.2418del (p.Ser806ArgfsTer?) c.1815del (p.Ser605ArgfsTer?) c.2325del (p.Ser775ArgfsTer?) c.1986del (p.Ser662ArgfsTer?) c.2334del (p.Ser778ArgfsTer?) c.2241+201del (n.2241+201del) c.2205+201del (n.2205+201del) c.2364del (p.Ser788ArgfsTer?) c.2133+201del (n.2133+201del) c.1680-6002del (n.1680-6002del) c.2460del (p.Ser820ArgfsTer?) c.2526del (p.Ser842ArgfsTer?) c.2523del (p.Ser841ArgfsTer?) c.2496del (p.Ser832ArgfsTer?) c.2442del (p.Ser814ArgfsTer?) c.2415del (p.Ser805ArgfsTer?) c.2400del (p.Ser800ArgfsTer?) c.2007del (p.Ser669ArgfsTer?) c.2469del (p.Ser823ArgfsTer?) c.2406del (p.Ser802ArgfsTer?) c.2403del (p.Ser801ArgfsTer?) c.2361del (p.Ser787ArgfsTer?) c.1434del (p.Ser478ArgfsTer?) | ClinVar dbSNP |
20 | g.63406845G>A | CA511339409 | KCNQ2 | c.2472C>T (p.Ser824=) c.2418C>T (p.Ser806=) c.1815C>T (p.Ser605=) c.2325C>T (p.Ser775=) c.1986C>T (p.Ser662=) c.2334C>T (p.Ser778=) c.2241+201C>T (n.2241+201C>T) c.2205+201C>T (n.2205+201C>T) c.2364C>T (p.Ser788=) c.2133+201C>T (n.2133+201C>T) c.1680-6002C>T (n.1680-6002C>T) c.2460C>T (p.Ser820=) c.2526C>T (p.Ser842=) c.2523C>T (p.Ser841=) c.2496C>T (p.Ser832=) c.2442C>T (p.Ser814=) c.2415C>T (p.Ser805=) c.2400C>T (p.Ser800=) c.2007C>T (p.Ser669=) c.2469C>T (p.Ser823=) c.2406C>T (p.Ser802=) c.2403C>T (p.Ser801=) c.2361C>T (p.Ser787=) c.1434C>T (p.Ser478=) | gnomAD v4 |
20 | g.63406845G>C | CA409637173 | KCNQ2 | c.2472C>G (p.Ser824Arg) c.2418C>G (p.Ser806Arg) c.1815C>G (p.Ser605Arg) c.2325C>G (p.Ser775Arg) c.1986C>G (p.Ser662Arg) c.2334C>G (p.Ser778Arg) c.2241+201C>G (n.2241+201C>G) c.2205+201C>G (n.2205+201C>G) c.2364C>G (p.Ser788Arg) c.2133+201C>G (n.2133+201C>G) c.1680-6002C>G (n.1680-6002C>G) c.2460C>G (p.Ser820Arg) c.2526C>G (p.Ser842Arg) c.2523C>G (p.Ser841Arg) c.2496C>G (p.Ser832Arg) c.2442C>G (p.Ser814Arg) c.2415C>G (p.Ser805Arg) c.2400C>G (p.Ser800Arg) c.2007C>G (p.Ser669Arg) c.2469C>G (p.Ser823Arg) c.2406C>G (p.Ser802Arg) c.2403C>G (p.Ser801Arg) c.2361C>G (p.Ser787Arg) c.1434C>G (p.Ser478Arg) | |
20 | g.63406845G>T | CA409637172 | KCNQ2 | c.2472C>A (p.Ser824Arg) c.2418C>A (p.Ser806Arg) c.1815C>A (p.Ser605Arg) c.2325C>A (p.Ser775Arg) c.1986C>A (p.Ser662Arg) c.2334C>A (p.Ser778Arg) c.2241+201C>A (n.2241+201C>A) c.2205+201C>A (n.2205+201C>A) c.2364C>A (p.Ser788Arg) c.2133+201C>A (n.2133+201C>A) c.1680-6002C>A (n.1680-6002C>A) c.2460C>A (p.Ser820Arg) c.2526C>A (p.Ser842Arg) c.2523C>A (p.Ser841Arg) c.2496C>A (p.Ser832Arg) c.2442C>A (p.Ser814Arg) c.2415C>A (p.Ser805Arg) c.2400C>A (p.Ser800Arg) c.2007C>A (p.Ser669Arg) c.2469C>A (p.Ser823Arg) c.2406C>A (p.Ser802Arg) c.2403C>A (p.Ser801Arg) c.2361C>A (p.Ser787Arg) c.1434C>A (p.Ser478Arg) | |
20 | g.63406846C>A | CA409637174 | KCNQ2 | c.2471G>T (p.Ser824Ile) c.2417G>T (p.Ser806Ile) c.1814G>T (p.Ser605Ile) c.2324G>T (p.Ser775Ile) c.1985G>T (p.Ser662Ile) c.2333G>T (p.Ser778Ile) c.2241+200G>T (n.2241+200G>T) c.2205+200G>T (n.2205+200G>T) c.2363G>T (p.Ser788Ile) c.2133+200G>T (n.2133+200G>T) c.1680-6003G>T (n.1680-6003G>T) c.2459G>T (p.Ser820Ile) c.2525G>T (p.Ser842Ile) c.2522G>T (p.Ser841Ile) c.2495G>T (p.Ser832Ile) c.2441G>T (p.Ser814Ile) c.2414G>T (p.Ser805Ile) c.2399G>T (p.Ser800Ile) c.2006G>T (p.Ser669Ile) c.2468G>T (p.Ser823Ile) c.2405G>T (p.Ser802Ile) c.2402G>T (p.Ser801Ile) c.2360G>T (p.Ser787Ile) c.1433G>T (p.Ser478Ile) | gnomAD v4 |
20 | g.63406846C>G | CA409637177 | KCNQ2 | c.2471G>C (p.Ser824Thr) c.2417G>C (p.Ser806Thr) c.1814G>C (p.Ser605Thr) c.2324G>C (p.Ser775Thr) c.1985G>C (p.Ser662Thr) c.2333G>C (p.Ser778Thr) c.2241+200G>C (n.2241+200G>C) c.2205+200G>C (n.2205+200G>C) c.2363G>C (p.Ser788Thr) c.2133+200G>C (n.2133+200G>C) c.1680-6003G>C (n.1680-6003G>C) c.2459G>C (p.Ser820Thr) c.2525G>C (p.Ser842Thr) c.2522G>C (p.Ser841Thr) c.2495G>C (p.Ser832Thr) c.2441G>C (p.Ser814Thr) c.2414G>C (p.Ser805Thr) c.2399G>C (p.Ser800Thr) c.2006G>C (p.Ser669Thr) c.2468G>C (p.Ser823Thr) c.2405G>C (p.Ser802Thr) c.2402G>C (p.Ser801Thr) c.2360G>C (p.Ser787Thr) c.1433G>C (p.Ser478Thr) | |
20 | g.63406846C>T | CA409637183 | KCNQ2 | c.2471G>A (p.Ser824Asn) c.2417G>A (p.Ser806Asn) c.1814G>A (p.Ser605Asn) c.2324G>A (p.Ser775Asn) c.1985G>A (p.Ser662Asn) c.2333G>A (p.Ser778Asn) c.2241+200G>A (n.2241+200G>A) c.2205+200G>A (n.2205+200G>A) c.2363G>A (p.Ser788Asn) c.2133+200G>A (n.2133+200G>A) c.1680-6003G>A (n.1680-6003G>A) c.2459G>A (p.Ser820Asn) c.2525G>A (p.Ser842Asn) c.2522G>A (p.Ser841Asn) c.2495G>A (p.Ser832Asn) c.2441G>A (p.Ser814Asn) c.2414G>A (p.Ser805Asn) c.2399G>A (p.Ser800Asn) c.2006G>A (p.Ser669Asn) c.2468G>A (p.Ser823Asn) c.2405G>A (p.Ser802Asn) c.2402G>A (p.Ser801Asn) c.2360G>A (p.Ser787Asn) c.1433G>A (p.Ser478Asn) | |
20 | g.63406847T>A | CA409637185 | KCNQ2 | c.2470A>T (p.Ser824Cys) c.2416A>T (p.Ser806Cys) c.1813A>T (p.Ser605Cys) c.2323A>T (p.Ser775Cys) c.1984A>T (p.Ser662Cys) c.2332A>T (p.Ser778Cys) c.2241+199A>T (n.2241+199A>T) c.2205+199A>T (n.2205+199A>T) c.2362A>T (p.Ser788Cys) c.2133+199A>T (n.2133+199A>T) c.1680-6004A>T (n.1680-6004A>T) c.2458A>T (p.Ser820Cys) c.2524A>T (p.Ser842Cys) c.2521A>T (p.Ser841Cys) c.2494A>T (p.Ser832Cys) c.2440A>T (p.Ser814Cys) c.2413A>T (p.Ser805Cys) c.2398A>T (p.Ser800Cys) c.2005A>T (p.Ser669Cys) c.2467A>T (p.Ser823Cys) c.2404A>T (p.Ser802Cys) c.2401A>T (p.Ser801Cys) c.2359A>T (p.Ser787Cys) c.1432A>T (p.Ser478Cys) | |
20 | g.63406847T>C | CA409637186 | KCNQ2 | c.2470A>G (p.Ser824Gly) c.2416A>G (p.Ser806Gly) c.1813A>G (p.Ser605Gly) c.2323A>G (p.Ser775Gly) c.1984A>G (p.Ser662Gly) c.2332A>G (p.Ser778Gly) c.2241+199A>G (n.2241+199A>G) c.2205+199A>G (n.2205+199A>G) c.2362A>G (p.Ser788Gly) c.2133+199A>G (n.2133+199A>G) c.1680-6004A>G (n.1680-6004A>G) c.2458A>G (p.Ser820Gly) c.2524A>G (p.Ser842Gly) c.2521A>G (p.Ser841Gly) c.2494A>G (p.Ser832Gly) c.2440A>G (p.Ser814Gly) c.2413A>G (p.Ser805Gly) c.2398A>G (p.Ser800Gly) c.2005A>G (p.Ser669Gly) c.2467A>G (p.Ser823Gly) c.2404A>G (p.Ser802Gly) c.2401A>G (p.Ser801Gly) c.2359A>G (p.Ser787Gly) c.1432A>G (p.Ser478Gly) | |
20 | g.63406847T>G | CA409637187 | KCNQ2 | c.2470A>C (p.Ser824Arg) c.2416A>C (p.Ser806Arg) c.1813A>C (p.Ser605Arg) c.2323A>C (p.Ser775Arg) c.1984A>C (p.Ser662Arg) c.2332A>C (p.Ser778Arg) c.2241+199A>C (n.2241+199A>C) c.2205+199A>C (n.2205+199A>C) c.2362A>C (p.Ser788Arg) c.2133+199A>C (n.2133+199A>C) c.1680-6004A>C (n.1680-6004A>C) c.2458A>C (p.Ser820Arg) c.2524A>C (p.Ser842Arg) c.2521A>C (p.Ser841Arg) c.2494A>C (p.Ser832Arg) c.2440A>C (p.Ser814Arg) c.2413A>C (p.Ser805Arg) c.2398A>C (p.Ser800Arg) c.2005A>C (p.Ser669Arg) c.2467A>C (p.Ser823Arg) c.2404A>C (p.Ser802Arg) c.2401A>C (p.Ser801Arg) c.2359A>C (p.Ser787Arg) c.1432A>C (p.Ser478Arg) | |
20 | g.63406848G>A | CA511339411 | KCNQ2 | c.2469C>T (p.Phe823=) c.2415C>T (p.Phe805=) c.1812C>T (p.Phe604=) c.2322C>T (p.Phe774=) c.1983C>T (p.Phe661=) c.2331C>T (p.Phe777=) c.2241+198C>T (n.2241+198C>T) c.2205+198C>T (n.2205+198C>T) c.2361C>T (p.Phe787=) c.2133+198C>T (n.2133+198C>T) c.1680-6005C>T (n.1680-6005C>T) c.2457C>T (p.Phe819=) c.2523C>T (p.Phe841=) c.2520C>T (p.Phe840=) c.2493C>T (p.Phe831=) c.2439C>T (p.Phe813=) c.2412C>T (p.Phe804=) c.2397C>T (p.Phe799=) c.2004C>T (p.Phe668=) c.2466C>T (p.Phe822=) c.2403C>T (p.Phe801=) c.2400C>T (p.Phe800=) c.2358C>T (p.Phe786=) c.1431C>T (p.Phe477=) | dbSNP gnomAD v4 |
20 | g.63406848G>C | CA409637189 | KCNQ2 | c.2469C>G (p.Phe823Leu) c.2415C>G (p.Phe805Leu) c.1812C>G (p.Phe604Leu) c.2322C>G (p.Phe774Leu) c.1983C>G (p.Phe661Leu) c.2331C>G (p.Phe777Leu) c.2241+198C>G (n.2241+198C>G) c.2205+198C>G (n.2205+198C>G) c.2361C>G (p.Phe787Leu) c.2133+198C>G (n.2133+198C>G) c.1680-6005C>G (n.1680-6005C>G) c.2457C>G (p.Phe819Leu) c.2523C>G (p.Phe841Leu) c.2520C>G (p.Phe840Leu) c.2493C>G (p.Phe831Leu) c.2439C>G (p.Phe813Leu) c.2412C>G (p.Phe804Leu) c.2397C>G (p.Phe799Leu) c.2004C>G (p.Phe668Leu) c.2466C>G (p.Phe822Leu) c.2403C>G (p.Phe801Leu) c.2400C>G (p.Phe800Leu) c.2358C>G (p.Phe786Leu) c.1431C>G (p.Phe477Leu) | |
20 | g.63406848G= | CA2374774270 | KCNQ2 | c.2469C= (p.Phe823=) c.2415C= (p.Phe805=) c.1812C= (p.Phe604=) c.2322C= (p.Phe774=) c.1983C= (p.Phe661=) c.2331C= (p.Phe777=) c.2241+198C= (n.2241+198C=) c.2205+198C= (n.2205+198C=) c.2361C= (p.Phe787=) c.2133+198C= (n.2133+198C=) c.1680-6005C= (n.1680-6005C=) c.2457C= (p.Phe819=) c.2523C= (p.Phe841=) c.2520C= (p.Phe840=) c.2493C= (p.Phe831=) c.2439C= (p.Phe813=) c.2412C= (p.Phe804=) c.2397C= (p.Phe799=) c.2004C= (p.Phe668=) c.2466C= (p.Phe822=) c.2403C= (p.Phe801=) c.2400C= (p.Phe800=) c.2358C= (p.Phe786=) c.1431C= (p.Phe477=) | |
20 | g.63406848G>T | CA409637188 | KCNQ2 | c.2469C>A (p.Phe823Leu) c.2415C>A (p.Phe805Leu) c.1812C>A (p.Phe604Leu) c.2322C>A (p.Phe774Leu) c.1983C>A (p.Phe661Leu) c.2331C>A (p.Phe777Leu) c.2241+198C>A (n.2241+198C>A) c.2205+198C>A (n.2205+198C>A) c.2361C>A (p.Phe787Leu) c.2133+198C>A (n.2133+198C>A) c.1680-6005C>A (n.1680-6005C>A) c.2457C>A (p.Phe819Leu) c.2523C>A (p.Phe841Leu) c.2520C>A (p.Phe840Leu) c.2493C>A (p.Phe831Leu) c.2439C>A (p.Phe813Leu) c.2412C>A (p.Phe804Leu) c.2397C>A (p.Phe799Leu) c.2004C>A (p.Phe668Leu) c.2466C>A (p.Phe822Leu) c.2403C>A (p.Phe801Leu) c.2400C>A (p.Phe800Leu) c.2358C>A (p.Phe786Leu) c.1431C>A (p.Phe477Leu) | |
20 | g.63406849A>C | CA409637190 | KCNQ2 | c.2468T>G (p.Phe823Cys) c.2414T>G (p.Phe805Cys) c.1811T>G (p.Phe604Cys) c.2321T>G (p.Phe774Cys) c.1982T>G (p.Phe661Cys) c.2330T>G (p.Phe777Cys) c.2241+197T>G (n.2241+197T>G) c.2205+197T>G (n.2205+197T>G) c.2360T>G (p.Phe787Cys) c.2133+197T>G (n.2133+197T>G) c.1680-6006T>G (n.1680-6006T>G) c.2456T>G (p.Phe819Cys) c.2522T>G (p.Phe841Cys) c.2519T>G (p.Phe840Cys) c.2492T>G (p.Phe831Cys) c.2438T>G (p.Phe813Cys) c.2411T>G (p.Phe804Cys) c.2396T>G (p.Phe799Cys) c.2003T>G (p.Phe668Cys) c.2465T>G (p.Phe822Cys) c.2402T>G (p.Phe801Cys) c.2399T>G (p.Phe800Cys) c.2357T>G (p.Phe786Cys) c.1430T>G (p.Phe477Cys) | |
20 | g.63406849A>G | CA409637191 | KCNQ2 | c.2468T>C (p.Phe823Ser) c.2414T>C (p.Phe805Ser) c.1811T>C (p.Phe604Ser) c.2321T>C (p.Phe774Ser) c.1982T>C (p.Phe661Ser) c.2330T>C (p.Phe777Ser) c.2241+197T>C (n.2241+197T>C) c.2205+197T>C (n.2205+197T>C) c.2360T>C (p.Phe787Ser) c.2133+197T>C (n.2133+197T>C) c.1680-6006T>C (n.1680-6006T>C) c.2456T>C (p.Phe819Ser) c.2522T>C (p.Phe841Ser) c.2519T>C (p.Phe840Ser) c.2492T>C (p.Phe831Ser) c.2438T>C (p.Phe813Ser) c.2411T>C (p.Phe804Ser) c.2396T>C (p.Phe799Ser) c.2003T>C (p.Phe668Ser) c.2465T>C (p.Phe822Ser) c.2402T>C (p.Phe801Ser) c.2399T>C (p.Phe800Ser) c.2357T>C (p.Phe786Ser) c.1430T>C (p.Phe477Ser) | |
20 | g.63406849A>T | CA409637193 | KCNQ2 | c.2468T>A (p.Phe823Tyr) c.2414T>A (p.Phe805Tyr) c.1811T>A (p.Phe604Tyr) c.2321T>A (p.Phe774Tyr) c.1982T>A (p.Phe661Tyr) c.2330T>A (p.Phe777Tyr) c.2241+197T>A (n.2241+197T>A) c.2205+197T>A (n.2205+197T>A) c.2360T>A (p.Phe787Tyr) c.2133+197T>A (n.2133+197T>A) c.1680-6006T>A (n.1680-6006T>A) c.2456T>A (p.Phe819Tyr) c.2522T>A (p.Phe841Tyr) c.2519T>A (p.Phe840Tyr) c.2492T>A (p.Phe831Tyr) c.2438T>A (p.Phe813Tyr) c.2411T>A (p.Phe804Tyr) c.2396T>A (p.Phe799Tyr) c.2003T>A (p.Phe668Tyr) c.2465T>A (p.Phe822Tyr) c.2402T>A (p.Phe801Tyr) c.2399T>A (p.Phe800Tyr) c.2357T>A (p.Phe786Tyr) c.1430T>A (p.Phe477Tyr) | |
20 | g.63406850A>C | CA409637199 | KCNQ2 | c.2467T>G (p.Phe823Val) c.2413T>G (p.Phe805Val) c.1810T>G (p.Phe604Val) c.2320T>G (p.Phe774Val) c.1981T>G (p.Phe661Val) c.2329T>G (p.Phe777Val) c.2241+196T>G (n.2241+196T>G) c.2205+196T>G (n.2205+196T>G) c.2359T>G (p.Phe787Val) c.2133+196T>G (n.2133+196T>G) c.1680-6007T>G (n.1680-6007T>G) c.2455T>G (p.Phe819Val) c.2521T>G (p.Phe841Val) c.2518T>G (p.Phe840Val) c.2491T>G (p.Phe831Val) c.2437T>G (p.Phe813Val) c.2410T>G (p.Phe804Val) c.2395T>G (p.Phe799Val) c.2002T>G (p.Phe668Val) c.2464T>G (p.Phe822Val) c.2401T>G (p.Phe801Val) c.2398T>G (p.Phe800Val) c.2356T>G (p.Phe786Val) c.1429T>G (p.Phe477Val) | gnomAD v4 |
20 | g.63406850A>G | CA409637200 | KCNQ2 | c.2467T>C (p.Phe823Leu) c.2413T>C (p.Phe805Leu) c.1810T>C (p.Phe604Leu) c.2320T>C (p.Phe774Leu) c.1981T>C (p.Phe661Leu) c.2329T>C (p.Phe777Leu) c.2241+196T>C (n.2241+196T>C) c.2205+196T>C (n.2205+196T>C) c.2359T>C (p.Phe787Leu) c.2133+196T>C (n.2133+196T>C) c.1680-6007T>C (n.1680-6007T>C) c.2455T>C (p.Phe819Leu) c.2521T>C (p.Phe841Leu) c.2518T>C (p.Phe840Leu) c.2491T>C (p.Phe831Leu) c.2437T>C (p.Phe813Leu) c.2410T>C (p.Phe804Leu) c.2395T>C (p.Phe799Leu) c.2002T>C (p.Phe668Leu) c.2464T>C (p.Phe822Leu) c.2401T>C (p.Phe801Leu) c.2398T>C (p.Phe800Leu) c.2356T>C (p.Phe786Leu) c.1429T>C (p.Phe477Leu) | |
20 | g.63406850A>T | CA409637203 | KCNQ2 | c.2467T>A (p.Phe823Ile) c.2413T>A (p.Phe805Ile) c.1810T>A (p.Phe604Ile) c.2320T>A (p.Phe774Ile) c.1981T>A (p.Phe661Ile) c.2329T>A (p.Phe777Ile) c.2241+196T>A (n.2241+196T>A) c.2205+196T>A (n.2205+196T>A) c.2359T>A (p.Phe787Ile) c.2133+196T>A (n.2133+196T>A) c.1680-6007T>A (n.1680-6007T>A) c.2455T>A (p.Phe819Ile) c.2521T>A (p.Phe841Ile) c.2518T>A (p.Phe840Ile) c.2491T>A (p.Phe831Ile) c.2437T>A (p.Phe813Ile) c.2410T>A (p.Phe804Ile) c.2395T>A (p.Phe799Ile) c.2002T>A (p.Phe668Ile) c.2464T>A (p.Phe822Ile) c.2401T>A (p.Phe801Ile) c.2398T>A (p.Phe800Ile) c.2356T>A (p.Phe786Ile) c.1429T>A (p.Phe477Ile) | |
20 | g.63406851G>A | CA317421760 | KCNQ2 | c.2466C>T (p.Gly822=) c.2412C>T (p.Gly804=) c.1809C>T (p.Gly603=) c.2319C>T (p.Gly773=) c.1980C>T (p.Gly660=) c.2328C>T (p.Gly776=) c.2241+195C>T (n.2241+195C>T) c.2205+195C>T (n.2205+195C>T) c.2358C>T (p.Gly786=) c.2133+195C>T (n.2133+195C>T) c.1680-6008C>T (n.1680-6008C>T) c.2454C>T (p.Gly818=) c.2520C>T (p.Gly840=) c.2517C>T (p.Gly839=) c.2490C>T (p.Gly830=) c.2436C>T (p.Gly812=) c.2409C>T (p.Gly803=) c.2394C>T (p.Gly798=) c.2001C>T (p.Gly667=) c.2463C>T (p.Gly821=) c.2400C>T (p.Gly800=) c.2397C>T (p.Gly799=) c.2355C>T (p.Gly785=) c.1428C>T (p.Gly476=) | dbSNP |
20 | g.63406851G>C | CA511339415 | KCNQ2 | c.2466C>G (p.Gly822=) c.2412C>G (p.Gly804=) c.1809C>G (p.Gly603=) c.2319C>G (p.Gly773=) c.1980C>G (p.Gly660=) c.2328C>G (p.Gly776=) c.2241+195C>G (n.2241+195C>G) c.2205+195C>G (n.2205+195C>G) c.2358C>G (p.Gly786=) c.2133+195C>G (n.2133+195C>G) c.1680-6008C>G (n.1680-6008C>G) c.2454C>G (p.Gly818=) c.2520C>G (p.Gly840=) c.2517C>G (p.Gly839=) c.2490C>G (p.Gly830=) c.2436C>G (p.Gly812=) c.2409C>G (p.Gly803=) c.2394C>G (p.Gly798=) c.2001C>G (p.Gly667=) c.2463C>G (p.Gly821=) c.2400C>G (p.Gly800=) c.2397C>G (p.Gly799=) c.2355C>G (p.Gly785=) c.1428C>G (p.Gly476=) | |
20 | g.63406851G= | CA2374774271 | KCNQ2 | c.2466C= (p.Gly822=) c.2412C= (p.Gly804=) c.1809C= (p.Gly603=) c.2319C= (p.Gly773=) c.1980C= (p.Gly660=) c.2328C= (p.Gly776=) c.2241+195C= (n.2241+195C=) c.2205+195C= (n.2205+195C=) c.2358C= (p.Gly786=) c.2133+195C= (n.2133+195C=) c.1680-6008C= (n.1680-6008C=) c.2454C= (p.Gly818=) c.2520C= (p.Gly840=) c.2517C= (p.Gly839=) c.2490C= (p.Gly830=) c.2436C= (p.Gly812=) c.2409C= (p.Gly803=) c.2394C= (p.Gly798=) c.2001C= (p.Gly667=) c.2463C= (p.Gly821=) c.2400C= (p.Gly800=) c.2397C= (p.Gly799=) c.2355C= (p.Gly785=) c.1428C= (p.Gly476=) | |
20 | g.63406851G>T | CA511339414 | KCNQ2 | c.2466C>A (p.Gly822=) c.2412C>A (p.Gly804=) c.1809C>A (p.Gly603=) c.2319C>A (p.Gly773=) c.1980C>A (p.Gly660=) c.2328C>A (p.Gly776=) c.2241+195C>A (n.2241+195C>A) c.2205+195C>A (n.2205+195C>A) c.2358C>A (p.Gly786=) c.2133+195C>A (n.2133+195C>A) c.1680-6008C>A (n.1680-6008C>A) c.2454C>A (p.Gly818=) c.2520C>A (p.Gly840=) c.2517C>A (p.Gly839=) c.2490C>A (p.Gly830=) c.2436C>A (p.Gly812=) c.2409C>A (p.Gly803=) c.2394C>A (p.Gly798=) c.2001C>A (p.Gly667=) c.2463C>A (p.Gly821=) c.2400C>A (p.Gly800=) c.2397C>A (p.Gly799=) c.2355C>A (p.Gly785=) c.1428C>A (p.Gly476=) | gnomAD v4 |
20 | g.63406852C>A | CA409637205 | KCNQ2 | c.2465G>T (p.Gly822Val) c.2411G>T (p.Gly804Val) c.1808G>T (p.Gly603Val) c.2318G>T (p.Gly773Val) c.1979G>T (p.Gly660Val) c.2327G>T (p.Gly776Val) c.2241+194G>T (n.2241+194G>T) c.2205+194G>T (n.2205+194G>T) c.2357G>T (p.Gly786Val) c.2133+194G>T (n.2133+194G>T) c.1680-6009G>T (n.1680-6009G>T) c.2453G>T (p.Gly818Val) c.2519G>T (p.Gly840Val) c.2516G>T (p.Gly839Val) c.2489G>T (p.Gly830Val) c.2435G>T (p.Gly812Val) c.2408G>T (p.Gly803Val) c.2393G>T (p.Gly798Val) c.2000G>T (p.Gly667Val) c.2462G>T (p.Gly821Val) c.2399G>T (p.Gly800Val) c.2396G>T (p.Gly799Val) c.2354G>T (p.Gly785Val) c.1427G>T (p.Gly476Val) | |
20 | g.63406852C>G | CA409637209 | KCNQ2 | c.2465G>C (p.Gly822Ala) c.2411G>C (p.Gly804Ala) c.1808G>C (p.Gly603Ala) c.2318G>C (p.Gly773Ala) c.1979G>C (p.Gly660Ala) c.2327G>C (p.Gly776Ala) c.2241+194G>C (n.2241+194G>C) c.2205+194G>C (n.2205+194G>C) c.2357G>C (p.Gly786Ala) c.2133+194G>C (n.2133+194G>C) c.1680-6009G>C (n.1680-6009G>C) c.2453G>C (p.Gly818Ala) c.2519G>C (p.Gly840Ala) c.2516G>C (p.Gly839Ala) c.2489G>C (p.Gly830Ala) c.2435G>C (p.Gly812Ala) c.2408G>C (p.Gly803Ala) c.2393G>C (p.Gly798Ala) c.2000G>C (p.Gly667Ala) c.2462G>C (p.Gly821Ala) c.2399G>C (p.Gly800Ala) c.2396G>C (p.Gly799Ala) c.2354G>C (p.Gly785Ala) c.1427G>C (p.Gly476Ala) | |
20 | g.63406852C>T | CA409637207 | KCNQ2 | c.2465G>A (p.Gly822Asp) c.2411G>A (p.Gly804Asp) c.1808G>A (p.Gly603Asp) c.2318G>A (p.Gly773Asp) c.1979G>A (p.Gly660Asp) c.2327G>A (p.Gly776Asp) c.2241+194G>A (n.2241+194G>A) c.2205+194G>A (n.2205+194G>A) c.2357G>A (p.Gly786Asp) c.2133+194G>A (n.2133+194G>A) c.1680-6009G>A (n.1680-6009G>A) c.2453G>A (p.Gly818Asp) c.2519G>A (p.Gly840Asp) c.2516G>A (p.Gly839Asp) c.2489G>A (p.Gly830Asp) c.2435G>A (p.Gly812Asp) c.2408G>A (p.Gly803Asp) c.2393G>A (p.Gly798Asp) c.2000G>A (p.Gly667Asp) c.2462G>A (p.Gly821Asp) c.2399G>A (p.Gly800Asp) c.2396G>A (p.Gly799Asp) c.2354G>A (p.Gly785Asp) c.1427G>A (p.Gly476Asp) | |
20 | g.63406853C>A | CA409637212 | KCNQ2 | c.2464G>T (p.Gly822Cys) c.2410G>T (p.Gly804Cys) c.1807G>T (p.Gly603Cys) c.2317G>T (p.Gly773Cys) c.1978G>T (p.Gly660Cys) c.2326G>T (p.Gly776Cys) c.2241+193G>T (n.2241+193G>T) c.2205+193G>T (n.2205+193G>T) c.2356G>T (p.Gly786Cys) c.2133+193G>T (n.2133+193G>T) c.1680-6010G>T (n.1680-6010G>T) c.2452G>T (p.Gly818Cys) c.2518G>T (p.Gly840Cys) c.2515G>T (p.Gly839Cys) c.2488G>T (p.Gly830Cys) c.2434G>T (p.Gly812Cys) c.2407G>T (p.Gly803Cys) c.2392G>T (p.Gly798Cys) c.1999G>T (p.Gly667Cys) c.2461G>T (p.Gly821Cys) c.2398G>T (p.Gly800Cys) c.2395G>T (p.Gly799Cys) c.2353G>T (p.Gly785Cys) c.1426G>T (p.Gly476Cys) | |
20 | g.63406853C= | CA2374774272 | KCNQ2 | c.2464G= (p.Gly822=) c.2410G= (p.Gly804=) c.1807G= (p.Gly603=) c.2317G= (p.Gly773=) c.1978G= (p.Gly660=) c.2326G= (p.Gly776=) c.2241+193G= (n.2241+193G=) c.2205+193G= (n.2205+193G=) c.2356G= (p.Gly786=) c.2133+193G= (n.2133+193G=) c.1680-6010G= (n.1680-6010G=) c.2452G= (p.Gly818=) c.2518G= (p.Gly840=) c.2515G= (p.Gly839=) c.2488G= (p.Gly830=) c.2434G= (p.Gly812=) c.2407G= (p.Gly803=) c.2392G= (p.Gly798=) c.1999G= (p.Gly667=) c.2461G= (p.Gly821=) c.2398G= (p.Gly800=) c.2395G= (p.Gly799=) c.2353G= (p.Gly785=) c.1426G= (p.Gly476=) | |
20 | g.63406853C>G | CA409637214 | KCNQ2 | c.2464G>C (p.Gly822Arg) c.2410G>C (p.Gly804Arg) c.1807G>C (p.Gly603Arg) c.2317G>C (p.Gly773Arg) c.1978G>C (p.Gly660Arg) c.2326G>C (p.Gly776Arg) c.2241+193G>C (n.2241+193G>C) c.2205+193G>C (n.2205+193G>C) c.2356G>C (p.Gly786Arg) c.2133+193G>C (n.2133+193G>C) c.1680-6010G>C (n.1680-6010G>C) c.2452G>C (p.Gly818Arg) c.2518G>C (p.Gly840Arg) c.2515G>C (p.Gly839Arg) c.2488G>C (p.Gly830Arg) c.2434G>C (p.Gly812Arg) c.2407G>C (p.Gly803Arg) c.2392G>C (p.Gly798Arg) c.1999G>C (p.Gly667Arg) c.2461G>C (p.Gly821Arg) c.2398G>C (p.Gly800Arg) c.2395G>C (p.Gly799Arg) c.2353G>C (p.Gly785Arg) c.1426G>C (p.Gly476Arg) | |
20 | g.63406853C>T | CA409637216 | KCNQ2 | c.2464G>A (p.Gly822Ser) c.2410G>A (p.Gly804Ser) c.1807G>A (p.Gly603Ser) c.2317G>A (p.Gly773Ser) c.1978G>A (p.Gly660Ser) c.2326G>A (p.Gly776Ser) c.2241+193G>A (n.2241+193G>A) c.2205+193G>A (n.2205+193G>A) c.2356G>A (p.Gly786Ser) c.2133+193G>A (n.2133+193G>A) c.1680-6010G>A (n.1680-6010G>A) c.2452G>A (p.Gly818Ser) c.2518G>A (p.Gly840Ser) c.2515G>A (p.Gly839Ser) c.2488G>A (p.Gly830Ser) c.2434G>A (p.Gly812Ser) c.2407G>A (p.Gly803Ser) c.2392G>A (p.Gly798Ser) c.1999G>A (p.Gly667Ser) c.2461G>A (p.Gly821Ser) c.2398G>A (p.Gly800Ser) c.2395G>A (p.Gly799Ser) c.2353G>A (p.Gly785Ser) c.1426G>A (p.Gly476Ser) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
20 | g.63406854G>A | CA9958079 | KCNQ2 | c.2463C>T (p.Ser821=) c.2409C>T (p.Ser803=) c.1806C>T (p.Ser602=) c.2316C>T (p.Ser772=) c.1977C>T (p.Ser659=) c.2325C>T (p.Ser775=) c.2241+192C>T (n.2241+192C>T) c.2205+192C>T (n.2205+192C>T) c.2355C>T (p.Ser785=) c.2133+192C>T (n.2133+192C>T) c.1680-6011C>T (n.1680-6011C>T) c.2451C>T (p.Ser817=) c.2517C>T (p.Ser839=) c.2514C>T (p.Ser838=) c.2487C>T (p.Ser829=) c.2433C>T (p.Ser811=) c.2406C>T (p.Ser802=) c.2391C>T (p.Ser797=) c.1998C>T (p.Ser666=) c.2460C>T (p.Ser820=) c.2397C>T (p.Ser799=) c.2394C>T (p.Ser798=) c.2352C>T (p.Ser784=) c.1425C>T (p.Ser475=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406854G>C | CA409637218 | KCNQ2 | c.2463C>G (p.Ser821Arg) c.2409C>G (p.Ser803Arg) c.1806C>G (p.Ser602Arg) c.2316C>G (p.Ser772Arg) c.1977C>G (p.Ser659Arg) c.2325C>G (p.Ser775Arg) c.2241+192C>G (n.2241+192C>G) c.2205+192C>G (n.2205+192C>G) c.2355C>G (p.Ser785Arg) c.2133+192C>G (n.2133+192C>G) c.1680-6011C>G (n.1680-6011C>G) c.2451C>G (p.Ser817Arg) c.2517C>G (p.Ser839Arg) c.2514C>G (p.Ser838Arg) c.2487C>G (p.Ser829Arg) c.2433C>G (p.Ser811Arg) c.2406C>G (p.Ser802Arg) c.2391C>G (p.Ser797Arg) c.1998C>G (p.Ser666Arg) c.2460C>G (p.Ser820Arg) c.2397C>G (p.Ser799Arg) c.2394C>G (p.Ser798Arg) c.2352C>G (p.Ser784Arg) c.1425C>G (p.Ser475Arg) | |
20 | g.63406854G= | CA2374774273 | KCNQ2 | c.2463C= (p.Ser821=) c.2409C= (p.Ser803=) c.1806C= (p.Ser602=) c.2316C= (p.Ser772=) c.1977C= (p.Ser659=) c.2325C= (p.Ser775=) c.2241+192C= (n.2241+192C=) c.2205+192C= (n.2205+192C=) c.2355C= (p.Ser785=) c.2133+192C= (n.2133+192C=) c.1680-6011C= (n.1680-6011C=) c.2451C= (p.Ser817=) c.2517C= (p.Ser839=) c.2514C= (p.Ser838=) c.2487C= (p.Ser829=) c.2433C= (p.Ser811=) c.2406C= (p.Ser802=) c.2391C= (p.Ser797=) c.1998C= (p.Ser666=) c.2460C= (p.Ser820=) c.2397C= (p.Ser799=) c.2394C= (p.Ser798=) c.2352C= (p.Ser784=) c.1425C= (p.Ser475=) | |
20 | g.63406854G>T | CA409637220 | KCNQ2 | c.2463C>A (p.Ser821Arg) c.2409C>A (p.Ser803Arg) c.1806C>A (p.Ser602Arg) c.2316C>A (p.Ser772Arg) c.1977C>A (p.Ser659Arg) c.2325C>A (p.Ser775Arg) c.2241+192C>A (n.2241+192C>A) c.2205+192C>A (n.2205+192C>A) c.2355C>A (p.Ser785Arg) c.2133+192C>A (n.2133+192C>A) c.1680-6011C>A (n.1680-6011C>A) c.2451C>A (p.Ser817Arg) c.2517C>A (p.Ser839Arg) c.2514C>A (p.Ser838Arg) c.2487C>A (p.Ser829Arg) c.2433C>A (p.Ser811Arg) c.2406C>A (p.Ser802Arg) c.2391C>A (p.Ser797Arg) c.1998C>A (p.Ser666Arg) c.2460C>A (p.Ser820Arg) c.2397C>A (p.Ser799Arg) c.2394C>A (p.Ser798Arg) c.2352C>A (p.Ser784Arg) c.1425C>A (p.Ser475Arg) | COSMIC COSMIC |
20 | g.63406855C>A | CA409637223 | KCNQ2 | c.2462G>T (p.Ser821Ile) c.2408G>T (p.Ser803Ile) c.1805G>T (p.Ser602Ile) c.2315G>T (p.Ser772Ile) c.1976G>T (p.Ser659Ile) c.2324G>T (p.Ser775Ile) c.2241+191G>T (n.2241+191G>T) c.2205+191G>T (n.2205+191G>T) c.2354G>T (p.Ser785Ile) c.2133+191G>T (n.2133+191G>T) c.1680-6012G>T (n.1680-6012G>T) c.2450G>T (p.Ser817Ile) c.2516G>T (p.Ser839Ile) c.2513G>T (p.Ser838Ile) c.2486G>T (p.Ser829Ile) c.2432G>T (p.Ser811Ile) c.2405G>T (p.Ser802Ile) c.2390G>T (p.Ser797Ile) c.1997G>T (p.Ser666Ile) c.2459G>T (p.Ser820Ile) c.2396G>T (p.Ser799Ile) c.2393G>T (p.Ser798Ile) c.2351G>T (p.Ser784Ile) c.1424G>T (p.Ser475Ile) | |
20 | g.63406855C>G | CA409637224 | KCNQ2 | c.2462G>C (p.Ser821Thr) c.2408G>C (p.Ser803Thr) c.1805G>C (p.Ser602Thr) c.2315G>C (p.Ser772Thr) c.1976G>C (p.Ser659Thr) c.2324G>C (p.Ser775Thr) c.2241+191G>C (n.2241+191G>C) c.2205+191G>C (n.2205+191G>C) c.2354G>C (p.Ser785Thr) c.2133+191G>C (n.2133+191G>C) c.1680-6012G>C (n.1680-6012G>C) c.2450G>C (p.Ser817Thr) c.2516G>C (p.Ser839Thr) c.2513G>C (p.Ser838Thr) c.2486G>C (p.Ser829Thr) c.2432G>C (p.Ser811Thr) c.2405G>C (p.Ser802Thr) c.2390G>C (p.Ser797Thr) c.1997G>C (p.Ser666Thr) c.2459G>C (p.Ser820Thr) c.2396G>C (p.Ser799Thr) c.2393G>C (p.Ser798Thr) c.2351G>C (p.Ser784Thr) c.1424G>C (p.Ser475Thr) | |
20 | g.63406855C>T | CA409637226 | KCNQ2 | c.2462G>A (p.Ser821Asn) c.2408G>A (p.Ser803Asn) c.1805G>A (p.Ser602Asn) c.2315G>A (p.Ser772Asn) c.1976G>A (p.Ser659Asn) c.2324G>A (p.Ser775Asn) c.2241+191G>A (n.2241+191G>A) c.2205+191G>A (n.2205+191G>A) c.2354G>A (p.Ser785Asn) c.2133+191G>A (n.2133+191G>A) c.1680-6012G>A (n.1680-6012G>A) c.2450G>A (p.Ser817Asn) c.2516G>A (p.Ser839Asn) c.2513G>A (p.Ser838Asn) c.2486G>A (p.Ser829Asn) c.2432G>A (p.Ser811Asn) c.2405G>A (p.Ser802Asn) c.2390G>A (p.Ser797Asn) c.1997G>A (p.Ser666Asn) c.2459G>A (p.Ser820Asn) c.2396G>A (p.Ser799Asn) c.2393G>A (p.Ser798Asn) c.2351G>A (p.Ser784Asn) c.1424G>A (p.Ser475Asn) | dbSNP |
20 | g.63406856T>A | CA409637229 | KCNQ2 | c.2461A>T (p.Ser821Cys) c.2407A>T (p.Ser803Cys) c.1804A>T (p.Ser602Cys) c.2314A>T (p.Ser772Cys) c.1975A>T (p.Ser659Cys) c.2323A>T (p.Ser775Cys) c.2241+190A>T (n.2241+190A>T) c.2205+190A>T (n.2205+190A>T) c.2353A>T (p.Ser785Cys) c.2133+190A>T (n.2133+190A>T) c.1680-6013A>T (n.1680-6013A>T) c.2449A>T (p.Ser817Cys) c.2515A>T (p.Ser839Cys) c.2512A>T (p.Ser838Cys) c.2485A>T (p.Ser829Cys) c.2431A>T (p.Ser811Cys) c.2404A>T (p.Ser802Cys) c.2389A>T (p.Ser797Cys) c.1996A>T (p.Ser666Cys) c.2458A>T (p.Ser820Cys) c.2395A>T (p.Ser799Cys) c.2392A>T (p.Ser798Cys) c.2350A>T (p.Ser784Cys) c.1423A>T (p.Ser475Cys) | |
20 | g.63406856T>C | CA409637230 | KCNQ2 | c.2461A>G (p.Ser821Gly) c.2407A>G (p.Ser803Gly) c.1804A>G (p.Ser602Gly) c.2314A>G (p.Ser772Gly) c.1975A>G (p.Ser659Gly) c.2323A>G (p.Ser775Gly) c.2241+190A>G (n.2241+190A>G) c.2205+190A>G (n.2205+190A>G) c.2353A>G (p.Ser785Gly) c.2133+190A>G (n.2133+190A>G) c.1680-6013A>G (n.1680-6013A>G) c.2449A>G (p.Ser817Gly) c.2515A>G (p.Ser839Gly) c.2512A>G (p.Ser838Gly) c.2485A>G (p.Ser829Gly) c.2431A>G (p.Ser811Gly) c.2404A>G (p.Ser802Gly) c.2389A>G (p.Ser797Gly) c.1996A>G (p.Ser666Gly) c.2458A>G (p.Ser820Gly) c.2395A>G (p.Ser799Gly) c.2392A>G (p.Ser798Gly) c.2350A>G (p.Ser784Gly) c.1423A>G (p.Ser475Gly) | |
20 | g.63406856T>G | CA409637232 | KCNQ2 | c.2461A>C (p.Ser821Arg) c.2407A>C (p.Ser803Arg) c.1804A>C (p.Ser602Arg) c.2314A>C (p.Ser772Arg) c.1975A>C (p.Ser659Arg) c.2323A>C (p.Ser775Arg) c.2241+190A>C (n.2241+190A>C) c.2205+190A>C (n.2205+190A>C) c.2353A>C (p.Ser785Arg) c.2133+190A>C (n.2133+190A>C) c.1680-6013A>C (n.1680-6013A>C) c.2449A>C (p.Ser817Arg) c.2515A>C (p.Ser839Arg) c.2512A>C (p.Ser838Arg) c.2485A>C (p.Ser829Arg) c.2431A>C (p.Ser811Arg) c.2404A>C (p.Ser802Arg) c.2389A>C (p.Ser797Arg) c.1996A>C (p.Ser666Arg) c.2458A>C (p.Ser820Arg) c.2395A>C (p.Ser799Arg) c.2392A>C (p.Ser798Arg) c.2350A>C (p.Ser784Arg) c.1423A>C (p.Ser475Arg) | |
20 | g.63406857G>A | CA511339417 | KCNQ2 | c.2460C>T (p.Phe820=) c.2406C>T (p.Phe802=) c.1803C>T (p.Phe601=) c.2313C>T (p.Phe771=) c.1974C>T (p.Phe658=) c.2322C>T (p.Phe774=) c.2241+189C>T (n.2241+189C>T) c.2205+189C>T (n.2205+189C>T) c.2352C>T (p.Phe784=) c.2133+189C>T (n.2133+189C>T) c.1680-6014C>T (n.1680-6014C>T) c.2448C>T (p.Phe816=) c.2514C>T (p.Phe838=) c.2511C>T (p.Phe837=) c.2484C>T (p.Phe828=) c.2430C>T (p.Phe810=) c.2403C>T (p.Phe801=) c.2388C>T (p.Phe796=) c.1995C>T (p.Phe665=) c.2457C>T (p.Phe819=) c.2394C>T (p.Phe798=) c.2391C>T (p.Phe797=) c.2349C>T (p.Phe783=) c.1422C>T (p.Phe474=) | dbSNP COSMIC COSMIC COSMIC |
20 | g.63406857G>C | CA409637235 | KCNQ2 | c.2460C>G (p.Phe820Leu) c.2406C>G (p.Phe802Leu) c.1803C>G (p.Phe601Leu) c.2313C>G (p.Phe771Leu) c.1974C>G (p.Phe658Leu) c.2322C>G (p.Phe774Leu) c.2241+189C>G (n.2241+189C>G) c.2205+189C>G (n.2205+189C>G) c.2352C>G (p.Phe784Leu) c.2133+189C>G (n.2133+189C>G) c.1680-6014C>G (n.1680-6014C>G) c.2448C>G (p.Phe816Leu) c.2514C>G (p.Phe838Leu) c.2511C>G (p.Phe837Leu) c.2484C>G (p.Phe828Leu) c.2430C>G (p.Phe810Leu) c.2403C>G (p.Phe801Leu) c.2388C>G (p.Phe796Leu) c.1995C>G (p.Phe665Leu) c.2457C>G (p.Phe819Leu) c.2394C>G (p.Phe798Leu) c.2391C>G (p.Phe797Leu) c.2349C>G (p.Phe783Leu) c.1422C>G (p.Phe474Leu) | |
20 | g.63406857G= | CA2374774274 | KCNQ2 | c.2460C= (p.Phe820=) c.2406C= (p.Phe802=) c.1803C= (p.Phe601=) c.2313C= (p.Phe771=) c.1974C= (p.Phe658=) c.2322C= (p.Phe774=) c.2241+189C= (n.2241+189C=) c.2205+189C= (n.2205+189C=) c.2352C= (p.Phe784=) c.2133+189C= (n.2133+189C=) c.1680-6014C= (n.1680-6014C=) c.2448C= (p.Phe816=) c.2514C= (p.Phe838=) c.2511C= (p.Phe837=) c.2484C= (p.Phe828=) c.2430C= (p.Phe810=) c.2403C= (p.Phe801=) c.2388C= (p.Phe796=) c.1995C= (p.Phe665=) c.2457C= (p.Phe819=) c.2394C= (p.Phe798=) c.2391C= (p.Phe797=) c.2349C= (p.Phe783=) c.1422C= (p.Phe474=) | |
20 | g.63406857G>T | CA409637234 | KCNQ2 | c.2460C>A (p.Phe820Leu) c.2406C>A (p.Phe802Leu) c.1803C>A (p.Phe601Leu) c.2313C>A (p.Phe771Leu) c.1974C>A (p.Phe658Leu) c.2322C>A (p.Phe774Leu) c.2241+189C>A (n.2241+189C>A) c.2205+189C>A (n.2205+189C>A) c.2352C>A (p.Phe784Leu) c.2133+189C>A (n.2133+189C>A) c.1680-6014C>A (n.1680-6014C>A) c.2448C>A (p.Phe816Leu) c.2514C>A (p.Phe838Leu) c.2511C>A (p.Phe837Leu) c.2484C>A (p.Phe828Leu) c.2430C>A (p.Phe810Leu) c.2403C>A (p.Phe801Leu) c.2388C>A (p.Phe796Leu) c.1995C>A (p.Phe665Leu) c.2457C>A (p.Phe819Leu) c.2394C>A (p.Phe798Leu) c.2391C>A (p.Phe797Leu) c.2349C>A (p.Phe783Leu) c.1422C>A (p.Phe474Leu) | |
20 | g.63406858A>C | CA409637238 | KCNQ2 | c.2459T>G (p.Phe820Cys) c.2405T>G (p.Phe802Cys) c.1802T>G (p.Phe601Cys) c.2312T>G (p.Phe771Cys) c.1973T>G (p.Phe658Cys) c.2321T>G (p.Phe774Cys) c.2241+188T>G (n.2241+188T>G) c.2205+188T>G (n.2205+188T>G) c.2351T>G (p.Phe784Cys) c.2133+188T>G (n.2133+188T>G) c.1680-6015T>G (n.1680-6015T>G) c.2447T>G (p.Phe816Cys) c.2513T>G (p.Phe838Cys) c.2510T>G (p.Phe837Cys) c.2483T>G (p.Phe828Cys) c.2429T>G (p.Phe810Cys) c.2402T>G (p.Phe801Cys) c.2387T>G (p.Phe796Cys) c.1994T>G (p.Phe665Cys) c.2456T>G (p.Phe819Cys) c.2393T>G (p.Phe798Cys) c.2390T>G (p.Phe797Cys) c.2348T>G (p.Phe783Cys) c.1421T>G (p.Phe474Cys) | |
20 | g.63406858A>G | CA409637242 | KCNQ2 | c.2459T>C (p.Phe820Ser) c.2405T>C (p.Phe802Ser) c.1802T>C (p.Phe601Ser) c.2312T>C (p.Phe771Ser) c.1973T>C (p.Phe658Ser) c.2321T>C (p.Phe774Ser) c.2241+188T>C (n.2241+188T>C) c.2205+188T>C (n.2205+188T>C) c.2351T>C (p.Phe784Ser) c.2133+188T>C (n.2133+188T>C) c.1680-6015T>C (n.1680-6015T>C) c.2447T>C (p.Phe816Ser) c.2513T>C (p.Phe838Ser) c.2510T>C (p.Phe837Ser) c.2483T>C (p.Phe828Ser) c.2429T>C (p.Phe810Ser) c.2402T>C (p.Phe801Ser) c.2387T>C (p.Phe796Ser) c.1994T>C (p.Phe665Ser) c.2456T>C (p.Phe819Ser) c.2393T>C (p.Phe798Ser) c.2390T>C (p.Phe797Ser) c.2348T>C (p.Phe783Ser) c.1421T>C (p.Phe474Ser) | |
20 | g.63406858A>T | CA409637240 | KCNQ2 | c.2459T>A (p.Phe820Tyr) c.2405T>A (p.Phe802Tyr) c.1802T>A (p.Phe601Tyr) c.2312T>A (p.Phe771Tyr) c.1973T>A (p.Phe658Tyr) c.2321T>A (p.Phe774Tyr) c.2241+188T>A (n.2241+188T>A) c.2205+188T>A (n.2205+188T>A) c.2351T>A (p.Phe784Tyr) c.2133+188T>A (n.2133+188T>A) c.1680-6015T>A (n.1680-6015T>A) c.2447T>A (p.Phe816Tyr) c.2513T>A (p.Phe838Tyr) c.2510T>A (p.Phe837Tyr) c.2483T>A (p.Phe828Tyr) c.2429T>A (p.Phe810Tyr) c.2402T>A (p.Phe801Tyr) c.2387T>A (p.Phe796Tyr) c.1994T>A (p.Phe665Tyr) c.2456T>A (p.Phe819Tyr) c.2393T>A (p.Phe798Tyr) c.2390T>A (p.Phe797Tyr) c.2348T>A (p.Phe783Tyr) c.1421T>A (p.Phe474Tyr) | |
20 | g.63406859A= | CA2374774275 | KCNQ2 | c.2458T= (p.Phe820=) c.2404T= (p.Phe802=) c.1801T= (p.Phe601=) c.2311T= (p.Phe771=) c.1972T= (p.Phe658=) c.2320T= (p.Phe774=) c.2241+187T= (n.2241+187T=) c.2205+187T= (n.2205+187T=) c.2350T= (p.Phe784=) c.2133+187T= (n.2133+187T=) c.1680-6016T= (n.1680-6016T=) c.2446T= (p.Phe816=) c.2512T= (p.Phe838=) c.2509T= (p.Phe837=) c.2482T= (p.Phe828=) c.2428T= (p.Phe810=) c.2401T= (p.Phe801=) c.2386T= (p.Phe796=) c.1993T= (p.Phe665=) c.2455T= (p.Phe819=) c.2392T= (p.Phe798=) c.2389T= (p.Phe797=) c.2347T= (p.Phe783=) c.1420T= (p.Phe474=) | |
20 | g.63406859A>C | CA409637245 | KCNQ2 | c.2458T>G (p.Phe820Val) c.2404T>G (p.Phe802Val) c.1801T>G (p.Phe601Val) c.2311T>G (p.Phe771Val) c.1972T>G (p.Phe658Val) c.2320T>G (p.Phe774Val) c.2241+187T>G (n.2241+187T>G) c.2205+187T>G (n.2205+187T>G) c.2350T>G (p.Phe784Val) c.2133+187T>G (n.2133+187T>G) c.1680-6016T>G (n.1680-6016T>G) c.2446T>G (p.Phe816Val) c.2512T>G (p.Phe838Val) c.2509T>G (p.Phe837Val) c.2482T>G (p.Phe828Val) c.2428T>G (p.Phe810Val) c.2401T>G (p.Phe801Val) c.2386T>G (p.Phe796Val) c.1993T>G (p.Phe665Val) c.2455T>G (p.Phe819Val) c.2392T>G (p.Phe798Val) c.2389T>G (p.Phe797Val) c.2347T>G (p.Phe783Val) c.1420T>G (p.Phe474Val) | dbSNP gnomAD v4 |
20 | g.63406859A>G | CA315525 | KCNQ2 | c.2458T>C (p.Phe820Leu) c.2404T>C (p.Phe802Leu) c.1801T>C (p.Phe601Leu) c.2311T>C (p.Phe771Leu) c.1972T>C (p.Phe658Leu) c.2320T>C (p.Phe774Leu) c.2241+187T>C (n.2241+187T>C) c.2205+187T>C (n.2205+187T>C) c.2350T>C (p.Phe784Leu) c.2133+187T>C (n.2133+187T>C) c.1680-6016T>C (n.1680-6016T>C) c.2446T>C (p.Phe816Leu) c.2512T>C (p.Phe838Leu) c.2509T>C (p.Phe837Leu) c.2482T>C (p.Phe828Leu) c.2428T>C (p.Phe810Leu) c.2401T>C (p.Phe801Leu) c.2386T>C (p.Phe796Leu) c.1993T>C (p.Phe665Leu) c.2455T>C (p.Phe819Leu) c.2392T>C (p.Phe798Leu) c.2389T>C (p.Phe797Leu) c.2347T>C (p.Phe783Leu) c.1420T>C (p.Phe474Leu) | ClinVar dbSNP |
20 | g.63406859A>T | CA409637248 | KCNQ2 | c.2458T>A (p.Phe820Ile) c.2404T>A (p.Phe802Ile) c.1801T>A (p.Phe601Ile) c.2311T>A (p.Phe771Ile) c.1972T>A (p.Phe658Ile) c.2320T>A (p.Phe774Ile) c.2241+187T>A (n.2241+187T>A) c.2205+187T>A (n.2205+187T>A) c.2350T>A (p.Phe784Ile) c.2133+187T>A (n.2133+187T>A) c.1680-6016T>A (n.1680-6016T>A) c.2446T>A (p.Phe816Ile) c.2512T>A (p.Phe838Ile) c.2509T>A (p.Phe837Ile) c.2482T>A (p.Phe828Ile) c.2428T>A (p.Phe810Ile) c.2401T>A (p.Phe801Ile) c.2386T>A (p.Phe796Ile) c.1993T>A (p.Phe665Ile) c.2455T>A (p.Phe819Ile) c.2392T>A (p.Phe798Ile) c.2389T>A (p.Phe797Ile) c.2347T>A (p.Phe783Ile) c.1420T>A (p.Phe474Ile) | |
20 | g.63406860G>A | CA511339420 | KCNQ2 | c.2457C>T (p.Ser819=) c.2403C>T (p.Ser801=) c.1800C>T (p.Ser600=) c.2310C>T (p.Ser770=) c.1971C>T (p.Ser657=) c.2319C>T (p.Ser773=) c.2241+186C>T (n.2241+186C>T) c.2205+186C>T (n.2205+186C>T) c.2349C>T (p.Ser783=) c.2133+186C>T (n.2133+186C>T) c.1680-6017C>T (n.1680-6017C>T) c.2445C>T (p.Ser815=) c.2511C>T (p.Ser837=) c.2508C>T (p.Ser836=) c.2481C>T (p.Ser827=) c.2427C>T (p.Ser809=) c.2400C>T (p.Ser800=) c.2385C>T (p.Ser795=) c.1992C>T (p.Ser664=) c.2454C>T (p.Ser818=) c.2391C>T (p.Ser797=) c.2388C>T (p.Ser796=) c.2346C>T (p.Ser782=) c.1419C>T (p.Ser473=) | |
20 | g.63406860G>C | CA511339421 | KCNQ2 | c.2457C>G (p.Ser819=) c.2403C>G (p.Ser801=) c.1800C>G (p.Ser600=) c.2310C>G (p.Ser770=) c.1971C>G (p.Ser657=) c.2319C>G (p.Ser773=) c.2241+186C>G (n.2241+186C>G) c.2205+186C>G (n.2205+186C>G) c.2349C>G (p.Ser783=) c.2133+186C>G (n.2133+186C>G) c.1680-6017C>G (n.1680-6017C>G) c.2445C>G (p.Ser815=) c.2511C>G (p.Ser837=) c.2508C>G (p.Ser836=) c.2481C>G (p.Ser827=) c.2427C>G (p.Ser809=) c.2400C>G (p.Ser800=) c.2385C>G (p.Ser795=) c.1992C>G (p.Ser664=) c.2454C>G (p.Ser818=) c.2391C>G (p.Ser797=) c.2388C>G (p.Ser796=) c.2346C>G (p.Ser782=) c.1419C>G (p.Ser473=) | ClinVar |
20 | g.63406860G>T | CA511339422 | KCNQ2 | c.2457C>A (p.Ser819=) c.2403C>A (p.Ser801=) c.1800C>A (p.Ser600=) c.2310C>A (p.Ser770=) c.1971C>A (p.Ser657=) c.2319C>A (p.Ser773=) c.2241+186C>A (n.2241+186C>A) c.2205+186C>A (n.2205+186C>A) c.2349C>A (p.Ser783=) c.2133+186C>A (n.2133+186C>A) c.1680-6017C>A (n.1680-6017C>A) c.2445C>A (p.Ser815=) c.2511C>A (p.Ser837=) c.2508C>A (p.Ser836=) c.2481C>A (p.Ser827=) c.2427C>A (p.Ser809=) c.2400C>A (p.Ser800=) c.2385C>A (p.Ser795=) c.1992C>A (p.Ser664=) c.2454C>A (p.Ser818=) c.2391C>A (p.Ser797=) c.2388C>A (p.Ser796=) c.2346C>A (p.Ser782=) c.1419C>A (p.Ser473=) | |
20 | g.63406861del | CA2499225799 | KCNQ2 | c.2457del (p.Phe820SerfsTer?) c.2403del (p.Phe802SerfsTer?) c.1800del (p.Phe601SerfsTer?) c.2310del (p.Phe771SerfsTer?) c.1971del (p.Phe658SerfsTer?) c.2319del (p.Phe774SerfsTer?) c.2241+186del (n.2241+186del) c.2205+186del (n.2205+186del) c.2349del (p.Phe784SerfsTer?) c.2133+186del (n.2133+186del) c.1680-6017del (n.1680-6017del) c.2445del (p.Phe816SerfsTer?) c.2511del (p.Phe838SerfsTer?) c.2508del (p.Phe837SerfsTer?) c.2481del (p.Phe828SerfsTer?) c.2427del (p.Phe810SerfsTer?) c.2400del (p.Phe801SerfsTer?) c.2385del (p.Phe796SerfsTer?) c.1992del (p.Phe665SerfsTer?) c.2454del (p.Phe819SerfsTer?) c.2391del (p.Phe798SerfsTer?) c.2388del (p.Phe797SerfsTer?) c.2346del (p.Phe783SerfsTer?) c.1419del (p.Phe474SerfsTer?) | ClinVar dbSNP |
20 | g.63406861G>A | CA409637250 | KCNQ2 | c.2456C>T (p.Ser819Phe) c.2402C>T (p.Ser801Phe) c.1799C>T (p.Ser600Phe) c.2309C>T (p.Ser770Phe) c.1970C>T (p.Ser657Phe) c.2318C>T (p.Ser773Phe) c.2241+185C>T (n.2241+185C>T) c.2205+185C>T (n.2205+185C>T) c.2348C>T (p.Ser783Phe) c.2133+185C>T (n.2133+185C>T) c.1680-6018C>T (n.1680-6018C>T) c.2444C>T (p.Ser815Phe) c.2510C>T (p.Ser837Phe) c.2507C>T (p.Ser836Phe) c.2480C>T (p.Ser827Phe) c.2426C>T (p.Ser809Phe) c.2399C>T (p.Ser800Phe) c.2384C>T (p.Ser795Phe) c.1991C>T (p.Ser664Phe) c.2453C>T (p.Ser818Phe) c.2390C>T (p.Ser797Phe) c.2387C>T (p.Ser796Phe) c.2345C>T (p.Ser782Phe) c.1418C>T (p.Ser473Phe) | |
20 | g.63406861G>C | CA409637252 | KCNQ2 | c.2456C>G (p.Ser819Cys) c.2402C>G (p.Ser801Cys) c.1799C>G (p.Ser600Cys) c.2309C>G (p.Ser770Cys) c.1970C>G (p.Ser657Cys) c.2318C>G (p.Ser773Cys) c.2241+185C>G (n.2241+185C>G) c.2205+185C>G (n.2205+185C>G) c.2348C>G (p.Ser783Cys) c.2133+185C>G (n.2133+185C>G) c.1680-6018C>G (n.1680-6018C>G) c.2444C>G (p.Ser815Cys) c.2510C>G (p.Ser837Cys) c.2507C>G (p.Ser836Cys) c.2480C>G (p.Ser827Cys) c.2426C>G (p.Ser809Cys) c.2399C>G (p.Ser800Cys) c.2384C>G (p.Ser795Cys) c.1991C>G (p.Ser664Cys) c.2453C>G (p.Ser818Cys) c.2390C>G (p.Ser797Cys) c.2387C>G (p.Ser796Cys) c.2345C>G (p.Ser782Cys) c.1418C>G (p.Ser473Cys) | |
20 | g.63406861G>T | CA409637254 | KCNQ2 | c.2456C>A (p.Ser819Tyr) c.2402C>A (p.Ser801Tyr) c.1799C>A (p.Ser600Tyr) c.2309C>A (p.Ser770Tyr) c.1970C>A (p.Ser657Tyr) c.2318C>A (p.Ser773Tyr) c.2241+185C>A (n.2241+185C>A) c.2205+185C>A (n.2205+185C>A) c.2348C>A (p.Ser783Tyr) c.2133+185C>A (n.2133+185C>A) c.1680-6018C>A (n.1680-6018C>A) c.2444C>A (p.Ser815Tyr) c.2510C>A (p.Ser837Tyr) c.2507C>A (p.Ser836Tyr) c.2480C>A (p.Ser827Tyr) c.2426C>A (p.Ser809Tyr) c.2399C>A (p.Ser800Tyr) c.2384C>A (p.Ser795Tyr) c.1991C>A (p.Ser664Tyr) c.2453C>A (p.Ser818Tyr) c.2390C>A (p.Ser797Tyr) c.2387C>A (p.Ser796Tyr) c.2345C>A (p.Ser782Tyr) c.1418C>A (p.Ser473Tyr) | |
20 | g.63406861_63406862delinsGA | CA2374774276 | KCNQ2 | c.2455_2456delinsTC (p.Ser819=) c.2401_2402delinsTC (p.Ser801=) c.1798_1799delinsTC (p.Ser600=) c.2308_2309delinsTC (p.Ser770=) c.1969_1970delinsTC (p.Ser657=) c.2317_2318delinsTC (p.Ser773=) c.2241+184_2241+185delinsTC (n.2241+184_2241+185delinsTC) c.2205+184_2205+185delinsTC (n.2205+184_2205+185delinsTC) c.2347_2348delinsTC (p.Ser783=) c.2133+184_2133+185delinsTC (n.2133+184_2133+185delinsTC) c.1680-6019_1680-6018delinsTC (n.1680-6019_1680-6018delinsTC) c.2443_2444delinsTC (p.Ser815=) c.2509_2510delinsTC (p.Ser837=) c.2506_2507delinsTC (p.Ser836=) c.2479_2480delinsTC (p.Ser827=) c.2425_2426delinsTC (p.Ser809=) c.2398_2399delinsTC (p.Ser800=) c.2383_2384delinsTC (p.Ser795=) c.1990_1991delinsTC (p.Ser664=) c.2452_2453delinsTC (p.Ser818=) c.2389_2390delinsTC (p.Ser797=) c.2386_2387delinsTC (p.Ser796=) c.2344_2345delinsTC (p.Ser782=) c.1417_1418delinsTC (p.Ser473=) | |
20 | g.63406862A>C | CA409637256 | KCNQ2 | c.2455T>G (p.Ser819Ala) c.2401T>G (p.Ser801Ala) c.1798T>G (p.Ser600Ala) c.2308T>G (p.Ser770Ala) c.1969T>G (p.Ser657Ala) c.2317T>G (p.Ser773Ala) c.2241+184T>G (n.2241+184T>G) c.2205+184T>G (n.2205+184T>G) c.2347T>G (p.Ser783Ala) c.2133+184T>G (n.2133+184T>G) c.1680-6019T>G (n.1680-6019T>G) c.2443T>G (p.Ser815Ala) c.2509T>G (p.Ser837Ala) c.2506T>G (p.Ser836Ala) c.2479T>G (p.Ser827Ala) c.2425T>G (p.Ser809Ala) c.2398T>G (p.Ser800Ala) c.2383T>G (p.Ser795Ala) c.1990T>G (p.Ser664Ala) c.2452T>G (p.Ser818Ala) c.2389T>G (p.Ser797Ala) c.2386T>G (p.Ser796Ala) c.2344T>G (p.Ser782Ala) c.1417T>G (p.Ser473Ala) | |
20 | g.63406862A>G | CA409637258 | KCNQ2 | c.2455T>C (p.Ser819Pro) c.2401T>C (p.Ser801Pro) c.1798T>C (p.Ser600Pro) c.2308T>C (p.Ser770Pro) c.1969T>C (p.Ser657Pro) c.2317T>C (p.Ser773Pro) c.2241+184T>C (n.2241+184T>C) c.2205+184T>C (n.2205+184T>C) c.2347T>C (p.Ser783Pro) c.2133+184T>C (n.2133+184T>C) c.1680-6019T>C (n.1680-6019T>C) c.2443T>C (p.Ser815Pro) c.2509T>C (p.Ser837Pro) c.2506T>C (p.Ser836Pro) c.2479T>C (p.Ser827Pro) c.2425T>C (p.Ser809Pro) c.2398T>C (p.Ser800Pro) c.2383T>C (p.Ser795Pro) c.1990T>C (p.Ser664Pro) c.2452T>C (p.Ser818Pro) c.2389T>C (p.Ser797Pro) c.2386T>C (p.Ser796Pro) c.2344T>C (p.Ser782Pro) c.1417T>C (p.Ser473Pro) | |
20 | g.63406862A>T | CA409637260 | KCNQ2 | c.2455T>A (p.Ser819Thr) c.2401T>A (p.Ser801Thr) c.1798T>A (p.Ser600Thr) c.2308T>A (p.Ser770Thr) c.1969T>A (p.Ser657Thr) c.2317T>A (p.Ser773Thr) c.2241+184T>A (n.2241+184T>A) c.2205+184T>A (n.2205+184T>A) c.2347T>A (p.Ser783Thr) c.2133+184T>A (n.2133+184T>A) c.1680-6019T>A (n.1680-6019T>A) c.2443T>A (p.Ser815Thr) c.2509T>A (p.Ser837Thr) c.2506T>A (p.Ser836Thr) c.2479T>A (p.Ser827Thr) c.2425T>A (p.Ser809Thr) c.2398T>A (p.Ser800Thr) c.2383T>A (p.Ser795Thr) c.1990T>A (p.Ser664Thr) c.2452T>A (p.Ser818Thr) c.2389T>A (p.Ser797Thr) c.2386T>A (p.Ser796Thr) c.2344T>A (p.Ser782Thr) c.1417T>A (p.Ser473Thr) | |
20 | g.63406863del | CA16620960 | KCNQ2 | c.2455del (p.Ser819ProfsTer?) c.2401del (p.Ser801ProfsTer?) c.1798del (p.Ser600ProfsTer?) c.2308del (p.Ser770ProfsTer?) c.1969del (p.Ser657ProfsTer?) c.2317del (p.Ser773ProfsTer?) c.2241+184del (n.2241+184del) c.2205+184del (n.2205+184del) c.2347del (p.Ser783ProfsTer?) c.2133+184del (n.2133+184del) c.1680-6019del (n.1680-6019del) c.2443del (p.Ser815ProfsTer?) c.2509del (p.Ser837ProfsTer?) c.2506del (p.Ser836ProfsTer?) c.2479del (p.Ser827ProfsTer?) c.2425del (p.Ser809ProfsTer?) c.2398del (p.Ser800ProfsTer?) c.2383del (p.Ser795ProfsTer?) c.1990del (p.Ser664ProfsTer?) c.2452del (p.Ser818ProfsTer?) c.2389del (p.Ser797ProfsTer?) c.2386del (p.Ser796ProfsTer?) c.2344del (p.Ser782ProfsTer?) c.1417del (p.Ser473ProfsTer?) | ClinVar dbSNP |
20 | g.63406863A= | CA2374774277 | KCNQ2 | c.2454T= (p.Arg818=) c.2400T= (p.Arg800=) c.1797T= (p.Arg599=) c.2307T= (p.Arg769=) c.1968T= (p.Arg656=) c.2316T= (p.Arg772=) c.2241+183T= (n.2241+183T=) c.2205+183T= (n.2205+183T=) c.2346T= (p.Arg782=) c.2133+183T= (n.2133+183T=) c.1680-6020T= (n.1680-6020T=) c.2442T= (p.Arg814=) c.2508T= (p.Arg836=) c.2505T= (p.Arg835=) c.2478T= (p.Arg826=) c.2424T= (p.Arg808=) c.2397T= (p.Arg799=) c.2382T= (p.Arg794=) c.1989T= (p.Arg663=) c.2451T= (p.Arg817=) c.2388T= (p.Arg796=) c.2385T= (p.Arg795=) c.2343T= (p.Arg781=) c.1416T= (p.Arg472=) | |
20 | g.63406863A>C | CA511339424 | KCNQ2 | c.2454T>G (p.Arg818=) c.2400T>G (p.Arg800=) c.1797T>G (p.Arg599=) c.2307T>G (p.Arg769=) c.1968T>G (p.Arg656=) c.2316T>G (p.Arg772=) c.2241+183T>G (n.2241+183T>G) c.2205+183T>G (n.2205+183T>G) c.2346T>G (p.Arg782=) c.2133+183T>G (n.2133+183T>G) c.1680-6020T>G (n.1680-6020T>G) c.2442T>G (p.Arg814=) c.2508T>G (p.Arg836=) c.2505T>G (p.Arg835=) c.2478T>G (p.Arg826=) c.2424T>G (p.Arg808=) c.2397T>G (p.Arg799=) c.2382T>G (p.Arg794=) c.1989T>G (p.Arg663=) c.2451T>G (p.Arg817=) c.2388T>G (p.Arg796=) c.2385T>G (p.Arg795=) c.2343T>G (p.Arg781=) c.1416T>G (p.Arg472=) | |
20 | g.63406863A>G | CA511339426 | KCNQ2 | c.2454T>C (p.Arg818=) c.2400T>C (p.Arg800=) c.1797T>C (p.Arg599=) c.2307T>C (p.Arg769=) c.1968T>C (p.Arg656=) c.2316T>C (p.Arg772=) c.2241+183T>C (n.2241+183T>C) c.2205+183T>C (n.2205+183T>C) c.2346T>C (p.Arg782=) c.2133+183T>C (n.2133+183T>C) c.1680-6020T>C (n.1680-6020T>C) c.2442T>C (p.Arg814=) c.2508T>C (p.Arg836=) c.2505T>C (p.Arg835=) c.2478T>C (p.Arg826=) c.2424T>C (p.Arg808=) c.2397T>C (p.Arg799=) c.2382T>C (p.Arg794=) c.1989T>C (p.Arg663=) c.2451T>C (p.Arg817=) c.2388T>C (p.Arg796=) c.2385T>C (p.Arg795=) c.2343T>C (p.Arg781=) c.1416T>C (p.Arg472=) | ClinVar dbSNP gnomAD v4 |
20 | g.63406863A>T | CA511339425 | KCNQ2 | c.2454T>A (p.Arg818=) c.2400T>A (p.Arg800=) c.1797T>A (p.Arg599=) c.2307T>A (p.Arg769=) c.1968T>A (p.Arg656=) c.2316T>A (p.Arg772=) c.2241+183T>A (n.2241+183T>A) c.2205+183T>A (n.2205+183T>A) c.2346T>A (p.Arg782=) c.2133+183T>A (n.2133+183T>A) c.1680-6020T>A (n.1680-6020T>A) c.2442T>A (p.Arg814=) c.2508T>A (p.Arg836=) c.2505T>A (p.Arg835=) c.2478T>A (p.Arg826=) c.2424T>A (p.Arg808=) c.2397T>A (p.Arg799=) c.2382T>A (p.Arg794=) c.1989T>A (p.Arg663=) c.2451T>A (p.Arg817=) c.2388T>A (p.Arg796=) c.2385T>A (p.Arg795=) c.2343T>A (p.Arg781=) c.1416T>A (p.Arg472=) | |
20 | g.63406864del | CA2697547447 | KCNQ2 | c.2453del (p.Arg818LeufsTer?) c.2399del (p.Arg800LeufsTer?) c.1796del (p.Arg599LeufsTer?) c.2306del (p.Arg769LeufsTer?) c.1967del (p.Arg656LeufsTer?) c.2315del (p.Arg772LeufsTer?) c.2241+182del (n.2241+182del) c.2205+182del (n.2205+182del) c.2345del (p.Arg782LeufsTer?) c.2133+182del (n.2133+182del) c.1680-6021del (n.1680-6021del) c.2441del (p.Arg814LeufsTer?) c.2507del (p.Arg836LeufsTer?) c.2504del (p.Arg835LeufsTer?) c.2477del (p.Arg826LeufsTer?) c.2423del (p.Arg808LeufsTer?) c.2396del (p.Arg799LeufsTer?) c.2381del (p.Arg794LeufsTer?) c.1988del (p.Arg663LeufsTer?) c.2450del (p.Arg817LeufsTer?) c.2387del (p.Arg796LeufsTer?) c.2384del (p.Arg795LeufsTer?) c.2342del (p.Arg781LeufsTer?) c.1415del (p.Arg472LeufsTer?) | ClinVar |
20 | g.63406864C>A | CA409637262 | KCNQ2 | c.2453G>T (p.Arg818Leu) c.2399G>T (p.Arg800Leu) c.1796G>T (p.Arg599Leu) c.2306G>T (p.Arg769Leu) c.1967G>T (p.Arg656Leu) c.2315G>T (p.Arg772Leu) c.2241+182G>T (n.2241+182G>T) c.2205+182G>T (n.2205+182G>T) c.2345G>T (p.Arg782Leu) c.2133+182G>T (n.2133+182G>T) c.1680-6021G>T (n.1680-6021G>T) c.2441G>T (p.Arg814Leu) c.2507G>T (p.Arg836Leu) c.2504G>T (p.Arg835Leu) c.2477G>T (p.Arg826Leu) c.2423G>T (p.Arg808Leu) c.2396G>T (p.Arg799Leu) c.2381G>T (p.Arg794Leu) c.1988G>T (p.Arg663Leu) c.2450G>T (p.Arg817Leu) c.2387G>T (p.Arg796Leu) c.2384G>T (p.Arg795Leu) c.2342G>T (p.Arg781Leu) c.1415G>T (p.Arg472Leu) | ClinVar |
20 | g.63406864C= | CA2374774278 | KCNQ2 | c.2453G= (p.Arg818=) c.2399G= (p.Arg800=) c.1796G= (p.Arg599=) c.2306G= (p.Arg769=) c.1967G= (p.Arg656=) c.2315G= (p.Arg772=) c.2241+182G= (n.2241+182G=) c.2205+182G= (n.2205+182G=) c.2345G= (p.Arg782=) c.2133+182G= (n.2133+182G=) c.1680-6021G= (n.1680-6021G=) c.2441G= (p.Arg814=) c.2507G= (p.Arg836=) c.2504G= (p.Arg835=) c.2477G= (p.Arg826=) c.2423G= (p.Arg808=) c.2396G= (p.Arg799=) c.2381G= (p.Arg794=) c.1988G= (p.Arg663=) c.2450G= (p.Arg817=) c.2387G= (p.Arg796=) c.2384G= (p.Arg795=) c.2342G= (p.Arg781=) c.1415G= (p.Arg472=) | |
20 | g.63406864C>G | CA409637264 | KCNQ2 | c.2453G>C (p.Arg818Pro) c.2399G>C (p.Arg800Pro) c.1796G>C (p.Arg599Pro) c.2306G>C (p.Arg769Pro) c.1967G>C (p.Arg656Pro) c.2315G>C (p.Arg772Pro) c.2241+182G>C (n.2241+182G>C) c.2205+182G>C (n.2205+182G>C) c.2345G>C (p.Arg782Pro) c.2133+182G>C (n.2133+182G>C) c.1680-6021G>C (n.1680-6021G>C) c.2441G>C (p.Arg814Pro) c.2507G>C (p.Arg836Pro) c.2504G>C (p.Arg835Pro) c.2477G>C (p.Arg826Pro) c.2423G>C (p.Arg808Pro) c.2396G>C (p.Arg799Pro) c.2381G>C (p.Arg794Pro) c.1988G>C (p.Arg663Pro) c.2450G>C (p.Arg817Pro) c.2387G>C (p.Arg796Pro) c.2384G>C (p.Arg795Pro) c.2342G>C (p.Arg781Pro) c.1415G>C (p.Arg472Pro) | |
20 | g.63406864C>T | CA9958080 | KCNQ2 | c.2453G>A (p.Arg818His) c.2399G>A (p.Arg800His) c.1796G>A (p.Arg599His) c.2306G>A (p.Arg769His) c.1967G>A (p.Arg656His) c.2315G>A (p.Arg772His) c.2241+182G>A (n.2241+182G>A) c.2205+182G>A (n.2205+182G>A) c.2345G>A (p.Arg782His) c.2133+182G>A (n.2133+182G>A) c.1680-6021G>A (n.1680-6021G>A) c.2441G>A (p.Arg814His) c.2507G>A (p.Arg836His) c.2504G>A (p.Arg835His) c.2477G>A (p.Arg826His) c.2423G>A (p.Arg808His) c.2396G>A (p.Arg799His) c.2381G>A (p.Arg794His) c.1988G>A (p.Arg663His) c.2450G>A (p.Arg817His) c.2387G>A (p.Arg796His) c.2384G>A (p.Arg795His) c.2342G>A (p.Arg781His) c.1415G>A (p.Arg472His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406865G>A | CA409637270 | KCNQ2 | c.2452C>T (p.Arg818Cys) c.2398C>T (p.Arg800Cys) c.1795C>T (p.Arg599Cys) c.2305C>T (p.Arg769Cys) c.1966C>T (p.Arg656Cys) c.2314C>T (p.Arg772Cys) c.2241+181C>T (n.2241+181C>T) c.2205+181C>T (n.2205+181C>T) c.2344C>T (p.Arg782Cys) c.2133+181C>T (n.2133+181C>T) c.1680-6022C>T (n.1680-6022C>T) c.2440C>T (p.Arg814Cys) c.2506C>T (p.Arg836Cys) c.2503C>T (p.Arg835Cys) c.2476C>T (p.Arg826Cys) c.2422C>T (p.Arg808Cys) c.2395C>T (p.Arg799Cys) c.2380C>T (p.Arg794Cys) c.1987C>T (p.Arg663Cys) c.2449C>T (p.Arg817Cys) c.2386C>T (p.Arg796Cys) c.2383C>T (p.Arg795Cys) c.2341C>T (p.Arg781Cys) c.1414C>T (p.Arg472Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
20 | g.63406865G>C | CA409637272 | KCNQ2 | c.2452C>G (p.Arg818Gly) c.2398C>G (p.Arg800Gly) c.1795C>G (p.Arg599Gly) c.2305C>G (p.Arg769Gly) c.1966C>G (p.Arg656Gly) c.2314C>G (p.Arg772Gly) c.2241+181C>G (n.2241+181C>G) c.2205+181C>G (n.2205+181C>G) c.2344C>G (p.Arg782Gly) c.2133+181C>G (n.2133+181C>G) c.1680-6022C>G (n.1680-6022C>G) c.2440C>G (p.Arg814Gly) c.2506C>G (p.Arg836Gly) c.2503C>G (p.Arg835Gly) c.2476C>G (p.Arg826Gly) c.2422C>G (p.Arg808Gly) c.2395C>G (p.Arg799Gly) c.2380C>G (p.Arg794Gly) c.1987C>G (p.Arg663Gly) c.2449C>G (p.Arg817Gly) c.2386C>G (p.Arg796Gly) c.2383C>G (p.Arg795Gly) c.2341C>G (p.Arg781Gly) c.1414C>G (p.Arg472Gly) | |
20 | g.63406865G= | CA2374774279 | KCNQ2 | c.2452C= (p.Arg818=) c.2398C= (p.Arg800=) c.1795C= (p.Arg599=) c.2305C= (p.Arg769=) c.1966C= (p.Arg656=) c.2314C= (p.Arg772=) c.2241+181C= (n.2241+181C=) c.2205+181C= (n.2205+181C=) c.2344C= (p.Arg782=) c.2133+181C= (n.2133+181C=) c.1680-6022C= (n.1680-6022C=) c.2440C= (p.Arg814=) c.2506C= (p.Arg836=) c.2503C= (p.Arg835=) c.2476C= (p.Arg826=) c.2422C= (p.Arg808=) c.2395C= (p.Arg799=) c.2380C= (p.Arg794=) c.1987C= (p.Arg663=) c.2449C= (p.Arg817=) c.2386C= (p.Arg796=) c.2383C= (p.Arg795=) c.2341C= (p.Arg781=) c.1414C= (p.Arg472=) | |
20 | g.63406865G>T | CA409637268 | KCNQ2 | c.2452C>A (p.Arg818Ser) c.2398C>A (p.Arg800Ser) c.1795C>A (p.Arg599Ser) c.2305C>A (p.Arg769Ser) c.1966C>A (p.Arg656Ser) c.2314C>A (p.Arg772Ser) c.2241+181C>A (n.2241+181C>A) c.2205+181C>A (n.2205+181C>A) c.2344C>A (p.Arg782Ser) c.2133+181C>A (n.2133+181C>A) c.1680-6022C>A (n.1680-6022C>A) c.2440C>A (p.Arg814Ser) c.2506C>A (p.Arg836Ser) c.2503C>A (p.Arg835Ser) c.2476C>A (p.Arg826Ser) c.2422C>A (p.Arg808Ser) c.2395C>A (p.Arg799Ser) c.2380C>A (p.Arg794Ser) c.1987C>A (p.Arg663Ser) c.2449C>A (p.Arg817Ser) c.2386C>A (p.Arg796Ser) c.2383C>A (p.Arg795Ser) c.2341C>A (p.Arg781Ser) c.1414C>A (p.Arg472Ser) | |
20 | g.63406866C>A | CA409637274 | KCNQ2 | c.2451G>T (p.Glu817Asp) c.2397G>T (p.Glu799Asp) c.1794G>T (p.Glu598Asp) c.2304G>T (p.Glu768Asp) c.1965G>T (p.Glu655Asp) c.2313G>T (p.Glu771Asp) c.2241+180G>T (n.2241+180G>T) c.2205+180G>T (n.2205+180G>T) c.2343G>T (p.Glu781Asp) c.2133+180G>T (n.2133+180G>T) c.1680-6023G>T (n.1680-6023G>T) c.2439G>T (p.Glu813Asp) c.2505G>T (p.Glu835Asp) c.2502G>T (p.Glu834Asp) c.2475G>T (p.Glu825Asp) c.2421G>T (p.Glu807Asp) c.2394G>T (p.Glu798Asp) c.2379G>T (p.Glu793Asp) c.1986G>T (p.Glu662Asp) c.2448G>T (p.Glu816Asp) c.2385G>T (p.Glu795Asp) c.2382G>T (p.Glu794Asp) c.2340G>T (p.Glu780Asp) c.1413G>T (p.Glu471Asp) | |
20 | g.63406866C>G | CA409637276 | KCNQ2 | c.2451G>C (p.Glu817Asp) c.2397G>C (p.Glu799Asp) c.1794G>C (p.Glu598Asp) c.2304G>C (p.Glu768Asp) c.1965G>C (p.Glu655Asp) c.2313G>C (p.Glu771Asp) c.2241+180G>C (n.2241+180G>C) c.2205+180G>C (n.2205+180G>C) c.2343G>C (p.Glu781Asp) c.2133+180G>C (n.2133+180G>C) c.1680-6023G>C (n.1680-6023G>C) c.2439G>C (p.Glu813Asp) c.2505G>C (p.Glu835Asp) c.2502G>C (p.Glu834Asp) c.2475G>C (p.Glu825Asp) c.2421G>C (p.Glu807Asp) c.2394G>C (p.Glu798Asp) c.2379G>C (p.Glu793Asp) c.1986G>C (p.Glu662Asp) c.2448G>C (p.Glu816Asp) c.2385G>C (p.Glu795Asp) c.2382G>C (p.Glu794Asp) c.2340G>C (p.Glu780Asp) c.1413G>C (p.Glu471Asp) | |
20 | g.63406866C>T | CA511339428 | KCNQ2 | c.2451G>A (p.Glu817=) c.2397G>A (p.Glu799=) c.1794G>A (p.Glu598=) c.2304G>A (p.Glu768=) c.1965G>A (p.Glu655=) c.2313G>A (p.Glu771=) c.2241+180G>A (n.2241+180G>A) c.2205+180G>A (n.2205+180G>A) c.2343G>A (p.Glu781=) c.2133+180G>A (n.2133+180G>A) c.1680-6023G>A (n.1680-6023G>A) c.2439G>A (p.Glu813=) c.2505G>A (p.Glu835=) c.2502G>A (p.Glu834=) c.2475G>A (p.Glu825=) c.2421G>A (p.Glu807=) c.2394G>A (p.Glu798=) c.2379G>A (p.Glu793=) c.1986G>A (p.Glu662=) c.2448G>A (p.Glu816=) c.2385G>A (p.Glu795=) c.2382G>A (p.Glu794=) c.2340G>A (p.Glu780=) c.1413G>A (p.Glu471=) | |
20 | g.63406866dup | CA2839809648 | KCNQ2 | c.2451dup (p.Arg818AlafsTer?) c.2397dup (p.Arg800AlafsTer?) c.1794dup (p.Arg599AlafsTer?) c.2304dup (p.Arg769AlafsTer?) c.1965dup (p.Arg656AlafsTer?) c.2313dup (p.Arg772AlafsTer?) c.2241+180dup (n.2241+180dup) c.2205+180dup (n.2205+180dup) c.2343dup (p.Arg782AlafsTer?) c.2133+180dup (n.2133+180dup) c.1680-6023dup (n.1680-6023dup) c.2439dup (p.Arg814AlafsTer?) c.2505dup (p.Arg836AlafsTer?) c.2502dup (p.Arg835AlafsTer?) c.2475dup (p.Arg826AlafsTer?) c.2421dup (p.Arg808AlafsTer?) c.2394dup (p.Arg799AlafsTer?) c.2379dup (p.Arg794AlafsTer?) c.1986dup (p.Arg663AlafsTer?) c.2448dup (p.Arg817AlafsTer?) c.2385dup (p.Arg796AlafsTer?) c.2382dup (p.Arg795AlafsTer?) c.2340dup (p.Arg781AlafsTer?) c.1413dup (p.Arg472AlafsTer?) | |
20 | g.63406867T>A | CA409637278 | KCNQ2 | c.2450A>T (p.Glu817Val) c.2396A>T (p.Glu799Val) c.1793A>T (p.Glu598Val) c.2303A>T (p.Glu768Val) c.1964A>T (p.Glu655Val) c.2312A>T (p.Glu771Val) c.2241+179A>T (n.2241+179A>T) c.2205+179A>T (n.2205+179A>T) c.2342A>T (p.Glu781Val) c.2133+179A>T (n.2133+179A>T) c.1680-6024A>T (n.1680-6024A>T) c.2438A>T (p.Glu813Val) c.2504A>T (p.Glu835Val) c.2501A>T (p.Glu834Val) c.2474A>T (p.Glu825Val) c.2420A>T (p.Glu807Val) c.2393A>T (p.Glu798Val) c.2378A>T (p.Glu793Val) c.1985A>T (p.Glu662Val) c.2447A>T (p.Glu816Val) c.2384A>T (p.Glu795Val) c.2381A>T (p.Glu794Val) c.2339A>T (p.Glu780Val) c.1412A>T (p.Glu471Val) | |
20 | g.63406867T>C | CA409637280 | KCNQ2 | c.2450A>G (p.Glu817Gly) c.2396A>G (p.Glu799Gly) c.1793A>G (p.Glu598Gly) c.2303A>G (p.Glu768Gly) c.1964A>G (p.Glu655Gly) c.2312A>G (p.Glu771Gly) c.2241+179A>G (n.2241+179A>G) c.2205+179A>G (n.2205+179A>G) c.2342A>G (p.Glu781Gly) c.2133+179A>G (n.2133+179A>G) c.1680-6024A>G (n.1680-6024A>G) c.2438A>G (p.Glu813Gly) c.2504A>G (p.Glu835Gly) c.2501A>G (p.Glu834Gly) c.2474A>G (p.Glu825Gly) c.2420A>G (p.Glu807Gly) c.2393A>G (p.Glu798Gly) c.2378A>G (p.Glu793Gly) c.1985A>G (p.Glu662Gly) c.2447A>G (p.Glu816Gly) c.2384A>G (p.Glu795Gly) c.2381A>G (p.Glu794Gly) c.2339A>G (p.Glu780Gly) c.1412A>G (p.Glu471Gly) | |
20 | g.63406867T>G | CA409637282 | KCNQ2 | c.2450A>C (p.Glu817Ala) c.2396A>C (p.Glu799Ala) c.1793A>C (p.Glu598Ala) c.2303A>C (p.Glu768Ala) c.1964A>C (p.Glu655Ala) c.2312A>C (p.Glu771Ala) c.2241+179A>C (n.2241+179A>C) c.2205+179A>C (n.2205+179A>C) c.2342A>C (p.Glu781Ala) c.2133+179A>C (n.2133+179A>C) c.1680-6024A>C (n.1680-6024A>C) c.2438A>C (p.Glu813Ala) c.2504A>C (p.Glu835Ala) c.2501A>C (p.Glu834Ala) c.2474A>C (p.Glu825Ala) c.2420A>C (p.Glu807Ala) c.2393A>C (p.Glu798Ala) c.2378A>C (p.Glu793Ala) c.1985A>C (p.Glu662Ala) c.2447A>C (p.Glu816Ala) c.2384A>C (p.Glu795Ala) c.2381A>C (p.Glu794Ala) c.2339A>C (p.Glu780Ala) c.1412A>C (p.Glu471Ala) | |
20 | g.63406868C>A | CA409637290 | KCNQ2 | c.2449G>T (p.Glu817Ter) c.2395G>T (p.Glu799Ter) c.1792G>T (p.Glu598Ter) c.2302G>T (p.Glu768Ter) c.1963G>T (p.Glu655Ter) c.2311G>T (p.Glu771Ter) c.2241+178G>T (n.2241+178G>T) c.2205+178G>T (n.2205+178G>T) c.2341G>T (p.Glu781Ter) c.2133+178G>T (n.2133+178G>T) c.1680-6025G>T (n.1680-6025G>T) c.2437G>T (p.Glu813Ter) c.2503G>T (p.Glu835Ter) c.2500G>T (p.Glu834Ter) c.2473G>T (p.Glu825Ter) c.2419G>T (p.Glu807Ter) c.2392G>T (p.Glu798Ter) c.2377G>T (p.Glu793Ter) c.1984G>T (p.Glu662Ter) c.2446G>T (p.Glu816Ter) c.2383G>T (p.Glu795Ter) c.2380G>T (p.Glu794Ter) c.2338G>T (p.Glu780Ter) c.1411G>T (p.Glu471Ter) | |
20 | g.63406868C>G | CA409637284 | KCNQ2 | c.2449G>C (p.Glu817Gln) c.2395G>C (p.Glu799Gln) c.1792G>C (p.Glu598Gln) c.2302G>C (p.Glu768Gln) c.1963G>C (p.Glu655Gln) c.2311G>C (p.Glu771Gln) c.2241+178G>C (n.2241+178G>C) c.2205+178G>C (n.2205+178G>C) c.2341G>C (p.Glu781Gln) c.2133+178G>C (n.2133+178G>C) c.1680-6025G>C (n.1680-6025G>C) c.2437G>C (p.Glu813Gln) c.2503G>C (p.Glu835Gln) c.2500G>C (p.Glu834Gln) c.2473G>C (p.Glu825Gln) c.2419G>C (p.Glu807Gln) c.2392G>C (p.Glu798Gln) c.2377G>C (p.Glu793Gln) c.1984G>C (p.Glu662Gln) c.2446G>C (p.Glu816Gln) c.2383G>C (p.Glu795Gln) c.2380G>C (p.Glu794Gln) c.2338G>C (p.Glu780Gln) c.1411G>C (p.Glu471Gln) | |
20 | g.63406868C>T | CA409637287 | KCNQ2 | c.2449G>A (p.Glu817Lys) c.2395G>A (p.Glu799Lys) c.1792G>A (p.Glu598Lys) c.2302G>A (p.Glu768Lys) c.1963G>A (p.Glu655Lys) c.2311G>A (p.Glu771Lys) c.2241+178G>A (n.2241+178G>A) c.2205+178G>A (n.2205+178G>A) c.2341G>A (p.Glu781Lys) c.2133+178G>A (n.2133+178G>A) c.1680-6025G>A (n.1680-6025G>A) c.2437G>A (p.Glu813Lys) c.2503G>A (p.Glu835Lys) c.2500G>A (p.Glu834Lys) c.2473G>A (p.Glu825Lys) c.2419G>A (p.Glu807Lys) c.2392G>A (p.Glu798Lys) c.2377G>A (p.Glu793Lys) c.1984G>A (p.Glu662Lys) c.2446G>A (p.Glu816Lys) c.2383G>A (p.Glu795Lys) c.2380G>A (p.Glu794Lys) c.2338G>A (p.Glu780Lys) c.1411G>A (p.Glu471Lys) | |
20 | g.63406869del | CA2839809649 | KCNQ2 | c.2449del (p.Glu817SerfsTer?) c.2395del (p.Glu799SerfsTer?) c.1792del (p.Glu598SerfsTer?) c.2302del (p.Glu768SerfsTer?) c.1963del (p.Glu655SerfsTer?) c.2311del (p.Glu771SerfsTer?) c.2241+178del (n.2241+178del) c.2205+178del (n.2205+178del) c.2341del (p.Glu781SerfsTer?) c.2133+178del (n.2133+178del) c.1680-6025del (n.1680-6025del) c.2437del (p.Glu813SerfsTer?) c.2503del (p.Glu835SerfsTer?) c.2500del (p.Glu834SerfsTer?) c.2473del (p.Glu825SerfsTer?) c.2419del (p.Glu807SerfsTer?) c.2392del (p.Glu798SerfsTer?) c.2377del (p.Glu793SerfsTer?) c.1984del (p.Glu662SerfsTer?) c.2446del (p.Glu816SerfsTer?) c.2383del (p.Glu795SerfsTer?) c.2380del (p.Glu794SerfsTer?) c.2338del (p.Glu780SerfsTer?) c.1411del (p.Glu471SerfsTer?) | |
20 | g.63406869C>A | CA511339430 | KCNQ2 | c.2448G>T (p.Leu816=) c.2394G>T (p.Leu798=) c.1791G>T (p.Leu597=) c.2301G>T (p.Leu767=) c.1962G>T (p.Leu654=) c.2310G>T (p.Leu770=) c.2241+177G>T (n.2241+177G>T) c.2205+177G>T (n.2205+177G>T) c.2340G>T (p.Leu780=) c.2133+177G>T (n.2133+177G>T) c.1680-6026G>T (n.1680-6026G>T) c.2436G>T (p.Leu812=) c.2502G>T (p.Leu834=) c.2499G>T (p.Leu833=) c.2472G>T (p.Leu824=) c.2418G>T (p.Leu806=) c.2391G>T (p.Leu797=) c.2376G>T (p.Leu792=) c.1983G>T (p.Leu661=) c.2445G>T (p.Leu815=) c.2382G>T (p.Leu794=) c.2379G>T (p.Leu793=) c.2337G>T (p.Leu779=) c.1410G>T (p.Leu470=) | |
20 | g.63406869C= | CA2374774280 | KCNQ2 | c.2448G= (p.Leu816=) c.2394G= (p.Leu798=) c.1791G= (p.Leu597=) c.2301G= (p.Leu767=) c.1962G= (p.Leu654=) c.2310G= (p.Leu770=) c.2241+177G= (n.2241+177G=) c.2205+177G= (n.2205+177G=) c.2340G= (p.Leu780=) c.2133+177G= (n.2133+177G=) c.1680-6026G= (n.1680-6026G=) c.2436G= (p.Leu812=) c.2502G= (p.Leu834=) c.2499G= (p.Leu833=) c.2472G= (p.Leu824=) c.2418G= (p.Leu806=) c.2391G= (p.Leu797=) c.2376G= (p.Leu792=) c.1983G= (p.Leu661=) c.2445G= (p.Leu815=) c.2382G= (p.Leu794=) c.2379G= (p.Leu793=) c.2337G= (p.Leu779=) c.1410G= (p.Leu470=) | |
20 | g.63406869C>G | CA511339431 | KCNQ2 | c.2448G>C (p.Leu816=) c.2394G>C (p.Leu798=) c.1791G>C (p.Leu597=) c.2301G>C (p.Leu767=) c.1962G>C (p.Leu654=) c.2310G>C (p.Leu770=) c.2241+177G>C (n.2241+177G>C) c.2205+177G>C (n.2205+177G>C) c.2340G>C (p.Leu780=) c.2133+177G>C (n.2133+177G>C) c.1680-6026G>C (n.1680-6026G>C) c.2436G>C (p.Leu812=) c.2502G>C (p.Leu834=) c.2499G>C (p.Leu833=) c.2472G>C (p.Leu824=) c.2418G>C (p.Leu806=) c.2391G>C (p.Leu797=) c.2376G>C (p.Leu792=) c.1983G>C (p.Leu661=) c.2445G>C (p.Leu815=) c.2382G>C (p.Leu794=) c.2379G>C (p.Leu793=) c.2337G>C (p.Leu779=) c.1410G>C (p.Leu470=) | |
20 | g.63406869C>T | CA9958081 | KCNQ2 | c.2448G>A (p.Leu816=) c.2394G>A (p.Leu798=) c.1791G>A (p.Leu597=) c.2301G>A (p.Leu767=) c.1962G>A (p.Leu654=) c.2310G>A (p.Leu770=) c.2241+177G>A (n.2241+177G>A) c.2205+177G>A (n.2205+177G>A) c.2340G>A (p.Leu780=) c.2133+177G>A (n.2133+177G>A) c.1680-6026G>A (n.1680-6026G>A) c.2436G>A (p.Leu812=) c.2502G>A (p.Leu834=) c.2499G>A (p.Leu833=) c.2472G>A (p.Leu824=) c.2418G>A (p.Leu806=) c.2391G>A (p.Leu797=) c.2376G>A (p.Leu792=) c.1983G>A (p.Leu661=) c.2445G>A (p.Leu815=) c.2382G>A (p.Leu794=) c.2379G>A (p.Leu793=) c.2337G>A (p.Leu779=) c.1410G>A (p.Leu470=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406870A>C | CA409637296 | KCNQ2 | c.2447T>G (p.Leu816Arg) c.2393T>G (p.Leu798Arg) c.1790T>G (p.Leu597Arg) c.2300T>G (p.Leu767Arg) c.1961T>G (p.Leu654Arg) c.2309T>G (p.Leu770Arg) c.2241+176T>G (n.2241+176T>G) c.2205+176T>G (n.2205+176T>G) c.2339T>G (p.Leu780Arg) c.2133+176T>G (n.2133+176T>G) c.1680-6027T>G (n.1680-6027T>G) c.2435T>G (p.Leu812Arg) c.2501T>G (p.Leu834Arg) c.2498T>G (p.Leu833Arg) c.2471T>G (p.Leu824Arg) c.2417T>G (p.Leu806Arg) c.2390T>G (p.Leu797Arg) c.2375T>G (p.Leu792Arg) c.1982T>G (p.Leu661Arg) c.2444T>G (p.Leu815Arg) c.2381T>G (p.Leu794Arg) c.2378T>G (p.Leu793Arg) c.2336T>G (p.Leu779Arg) c.1409T>G (p.Leu470Arg) | |
20 | g.63406870A>G | CA409637298 | KCNQ2 | c.2447T>C (p.Leu816Pro) c.2393T>C (p.Leu798Pro) c.1790T>C (p.Leu597Pro) c.2300T>C (p.Leu767Pro) c.1961T>C (p.Leu654Pro) c.2309T>C (p.Leu770Pro) c.2241+176T>C (n.2241+176T>C) c.2205+176T>C (n.2205+176T>C) c.2339T>C (p.Leu780Pro) c.2133+176T>C (n.2133+176T>C) c.1680-6027T>C (n.1680-6027T>C) c.2435T>C (p.Leu812Pro) c.2501T>C (p.Leu834Pro) c.2498T>C (p.Leu833Pro) c.2471T>C (p.Leu824Pro) c.2417T>C (p.Leu806Pro) c.2390T>C (p.Leu797Pro) c.2375T>C (p.Leu792Pro) c.1982T>C (p.Leu661Pro) c.2444T>C (p.Leu815Pro) c.2381T>C (p.Leu794Pro) c.2378T>C (p.Leu793Pro) c.2336T>C (p.Leu779Pro) c.1409T>C (p.Leu470Pro) | |
20 | g.63406870A>T | CA409637300 | KCNQ2 | c.2447T>A (p.Leu816Gln) c.2393T>A (p.Leu798Gln) c.1790T>A (p.Leu597Gln) c.2300T>A (p.Leu767Gln) c.1961T>A (p.Leu654Gln) c.2309T>A (p.Leu770Gln) c.2241+176T>A (n.2241+176T>A) c.2205+176T>A (n.2205+176T>A) c.2339T>A (p.Leu780Gln) c.2133+176T>A (n.2133+176T>A) c.1680-6027T>A (n.1680-6027T>A) c.2435T>A (p.Leu812Gln) c.2501T>A (p.Leu834Gln) c.2498T>A (p.Leu833Gln) c.2471T>A (p.Leu824Gln) c.2417T>A (p.Leu806Gln) c.2390T>A (p.Leu797Gln) c.2375T>A (p.Leu792Gln) c.1982T>A (p.Leu661Gln) c.2444T>A (p.Leu815Gln) c.2381T>A (p.Leu794Gln) c.2378T>A (p.Leu793Gln) c.2336T>A (p.Leu779Gln) c.1409T>A (p.Leu470Gln) | |
20 | g.63406871G>A | CA511339434 | KCNQ2 | c.2446C>T (p.Leu816=) c.2392C>T (p.Leu798=) c.1789C>T (p.Leu597=) c.2299C>T (p.Leu767=) c.1960C>T (p.Leu654=) c.2308C>T (p.Leu770=) c.2241+175C>T (n.2241+175C>T) c.2205+175C>T (n.2205+175C>T) c.2338C>T (p.Leu780=) c.2133+175C>T (n.2133+175C>T) c.1680-6028C>T (n.1680-6028C>T) c.2434C>T (p.Leu812=) c.2500C>T (p.Leu834=) c.2497C>T (p.Leu833=) c.2470C>T (p.Leu824=) c.2416C>T (p.Leu806=) c.2389C>T (p.Leu797=) c.2374C>T (p.Leu792=) c.1981C>T (p.Leu661=) c.2443C>T (p.Leu815=) c.2380C>T (p.Leu794=) c.2377C>T (p.Leu793=) c.2335C>T (p.Leu779=) c.1408C>T (p.Leu470=) | |
20 | g.63406871G>C | CA409637304 | KCNQ2 | c.2446C>G (p.Leu816Val) c.2392C>G (p.Leu798Val) c.1789C>G (p.Leu597Val) c.2299C>G (p.Leu767Val) c.1960C>G (p.Leu654Val) c.2308C>G (p.Leu770Val) c.2241+175C>G (n.2241+175C>G) c.2205+175C>G (n.2205+175C>G) c.2338C>G (p.Leu780Val) c.2133+175C>G (n.2133+175C>G) c.1680-6028C>G (n.1680-6028C>G) c.2434C>G (p.Leu812Val) c.2500C>G (p.Leu834Val) c.2497C>G (p.Leu833Val) c.2470C>G (p.Leu824Val) c.2416C>G (p.Leu806Val) c.2389C>G (p.Leu797Val) c.2374C>G (p.Leu792Val) c.1981C>G (p.Leu661Val) c.2443C>G (p.Leu815Val) c.2380C>G (p.Leu794Val) c.2377C>G (p.Leu793Val) c.2335C>G (p.Leu779Val) c.1408C>G (p.Leu470Val) | |
20 | g.63406871G>T | CA409637306 | KCNQ2 | c.2446C>A (p.Leu816Met) c.2392C>A (p.Leu798Met) c.1789C>A (p.Leu597Met) c.2299C>A (p.Leu767Met) c.1960C>A (p.Leu654Met) c.2308C>A (p.Leu770Met) c.2241+175C>A (n.2241+175C>A) c.2205+175C>A (n.2205+175C>A) c.2338C>A (p.Leu780Met) c.2133+175C>A (n.2133+175C>A) c.1680-6028C>A (n.1680-6028C>A) c.2434C>A (p.Leu812Met) c.2500C>A (p.Leu834Met) c.2497C>A (p.Leu833Met) c.2470C>A (p.Leu824Met) c.2416C>A (p.Leu806Met) c.2389C>A (p.Leu797Met) c.2374C>A (p.Leu792Met) c.1981C>A (p.Leu661Met) c.2443C>A (p.Leu815Met) c.2380C>A (p.Leu794Met) c.2377C>A (p.Leu793Met) c.2335C>A (p.Leu779Met) c.1408C>A (p.Leu470Met) | gnomAD v4 |
20 | g.63406871_63406885delinsGCTCCTCGTGGTCCA | CA2374774281 | KCNQ2 | c.2432_2446delinsTGGACCACGAGGAGC (p.Val811=) c.2378_2392delinsTGGACCACGAGGAGC (p.Val793=) c.1775_1789delinsTGGACCACGAGGAGC (p.Val592=) c.2285_2299delinsTGGACCACGAGGAGC (p.Val762=) c.1946_1960delinsTGGACCACGAGGAGC (p.Val649=) c.2294_2308delinsTGGACCACGAGGAGC (p.Val765=) c.2241+161_2241+175delinsTGGACCACGAGGAGC (n.2241+161_2241+175delinsTGGACCACGAGGAGC) c.2205+161_2205+175delinsTGGACCACGAGGAGC (n.2205+161_2205+175delinsTGGACCACGAGGAGC) c.2324_2338delinsTGGACCACGAGGAGC (p.Val775=) c.2133+161_2133+175delinsTGGACCACGAGGAGC (n.2133+161_2133+175delinsTGGACCACGAGGAGC) c.1680-6042_1680-6028delinsTGGACCACGAGGAGC (n.1680-6042_1680-6028delinsTGGACCACGAGGAGC) c.2420_2434delinsTGGACCACGAGGAGC (p.Val807=) c.2486_2500delinsTGGACCACGAGGAGC (p.Val829=) c.2483_2497delinsTGGACCACGAGGAGC (p.Val828=) c.2456_2470delinsTGGACCACGAGGAGC (p.Val819=) c.2402_2416delinsTGGACCACGAGGAGC (p.Val801=) c.2375_2389delinsTGGACCACGAGGAGC (p.Val792=) c.2360_2374delinsTGGACCACGAGGAGC (p.Val787=) c.1967_1981delinsTGGACCACGAGGAGC (p.Val656=) c.2429_2443delinsTGGACCACGAGGAGC (p.Val810=) c.2366_2380delinsTGGACCACGAGGAGC (p.Val789=) c.2363_2377delinsTGGACCACGAGGAGC (p.Val788=) c.2321_2335delinsTGGACCACGAGGAGC (p.Val774=) c.1394_1408delinsTGGACCACGAGGAGC (p.Val465=) | |
20 | g.63406872C>A | CA409637310 | KCNQ2 | c.2445G>T (p.Glu815Asp) c.2391G>T (p.Glu797Asp) c.1788G>T (p.Glu596Asp) c.2298G>T (p.Glu766Asp) c.1959G>T (p.Glu653Asp) c.2307G>T (p.Glu769Asp) c.2241+174G>T (n.2241+174G>T) c.2205+174G>T (n.2205+174G>T) c.2337G>T (p.Glu779Asp) c.2133+174G>T (n.2133+174G>T) c.1680-6029G>T (n.1680-6029G>T) c.2433G>T (p.Glu811Asp) c.2499G>T (p.Glu833Asp) c.2496G>T (p.Glu832Asp) c.2469G>T (p.Glu823Asp) c.2415G>T (p.Glu805Asp) c.2388G>T (p.Glu796Asp) c.2373G>T (p.Glu791Asp) c.1980G>T (p.Glu660Asp) c.2442G>T (p.Glu814Asp) c.2379G>T (p.Glu793Asp) c.2376G>T (p.Glu792Asp) c.2334G>T (p.Glu778Asp) c.1407G>T (p.Glu469Asp) | |
20 | g.63406872C>G | CA409637313 | KCNQ2 | c.2445G>C (p.Glu815Asp) c.2391G>C (p.Glu797Asp) c.1788G>C (p.Glu596Asp) c.2298G>C (p.Glu766Asp) c.1959G>C (p.Glu653Asp) c.2307G>C (p.Glu769Asp) c.2241+174G>C (n.2241+174G>C) c.2205+174G>C (n.2205+174G>C) c.2337G>C (p.Glu779Asp) c.2133+174G>C (n.2133+174G>C) c.1680-6029G>C (n.1680-6029G>C) c.2433G>C (p.Glu811Asp) c.2499G>C (p.Glu833Asp) c.2496G>C (p.Glu832Asp) c.2469G>C (p.Glu823Asp) c.2415G>C (p.Glu805Asp) c.2388G>C (p.Glu796Asp) c.2373G>C (p.Glu791Asp) c.1980G>C (p.Glu660Asp) c.2442G>C (p.Glu814Asp) c.2379G>C (p.Glu793Asp) c.2376G>C (p.Glu792Asp) c.2334G>C (p.Glu778Asp) c.1407G>C (p.Glu469Asp) | |
20 | g.63406872C>T | CA511339435 | KCNQ2 | c.2445G>A (p.Glu815=) c.2391G>A (p.Glu797=) c.1788G>A (p.Glu596=) c.2298G>A (p.Glu766=) c.1959G>A (p.Glu653=) c.2307G>A (p.Glu769=) c.2241+174G>A (n.2241+174G>A) c.2205+174G>A (n.2205+174G>A) c.2337G>A (p.Glu779=) c.2133+174G>A (n.2133+174G>A) c.1680-6029G>A (n.1680-6029G>A) c.2433G>A (p.Glu811=) c.2499G>A (p.Glu833=) c.2496G>A (p.Glu832=) c.2469G>A (p.Glu823=) c.2415G>A (p.Glu805=) c.2388G>A (p.Glu796=) c.2373G>A (p.Glu791=) c.1980G>A (p.Glu660=) c.2442G>A (p.Glu814=) c.2379G>A (p.Glu793=) c.2376G>A (p.Glu792=) c.2334G>A (p.Glu778=) c.1407G>A (p.Glu469=) | gnomAD v4 |
20 | g.63406873_63406886del | CA658799396 | KCNQ2 | c.2432_2445del (p.Val811AlafsTer?) c.2378_2391del (p.Val793AlafsTer?) c.1775_1788del (p.Val592AlafsTer?) c.2285_2298del (p.Val762AlafsTer?) c.1946_1959del (p.Val649AlafsTer?) c.2294_2307del (p.Val765AlafsTer?) c.2241+161_2241+174del (n.2241+161_2241+174del) c.2205+161_2205+174del (n.2205+161_2205+174del) c.2324_2337del (p.Val775AlafsTer?) c.2133+161_2133+174del (n.2133+161_2133+174del) c.1680-6042_1680-6029del (n.1680-6042_1680-6029del) c.2420_2433del (p.Val807AlafsTer?) c.2486_2499del (p.Val829AlafsTer?) c.2483_2496del (p.Val828AlafsTer?) c.2456_2469del (p.Val819AlafsTer?) c.2402_2415del (p.Val801AlafsTer?) c.2375_2388del (p.Val792AlafsTer?) c.2360_2373del (p.Val787AlafsTer?) c.1967_1980del (p.Val656AlafsTer?) c.2429_2442del (p.Val810AlafsTer?) c.2366_2379del (p.Val789AlafsTer?) c.2363_2376del (p.Val788AlafsTer?) c.2321_2334del (p.Val774AlafsTer?) c.1394_1407del (p.Val465AlafsTer?) | ClinVar dbSNP |
20 | g.63406873T>A | CA409637316 | KCNQ2 | c.2444A>T (p.Glu815Val) c.2390A>T (p.Glu797Val) c.1787A>T (p.Glu596Val) c.2297A>T (p.Glu766Val) c.1958A>T (p.Glu653Val) c.2306A>T (p.Glu769Val) c.2241+173A>T (n.2241+173A>T) c.2205+173A>T (n.2205+173A>T) c.2336A>T (p.Glu779Val) c.2133+173A>T (n.2133+173A>T) c.1680-6030A>T (n.1680-6030A>T) c.2432A>T (p.Glu811Val) c.2498A>T (p.Glu833Val) c.2495A>T (p.Glu832Val) c.2468A>T (p.Glu823Val) c.2414A>T (p.Glu805Val) c.2387A>T (p.Glu796Val) c.2372A>T (p.Glu791Val) c.1979A>T (p.Glu660Val) c.2441A>T (p.Glu814Val) c.2378A>T (p.Glu793Val) c.2375A>T (p.Glu792Val) c.2333A>T (p.Glu778Val) c.1406A>T (p.Glu469Val) | |
20 | g.63406873T>C | CA409637319 | KCNQ2 | c.2444A>G (p.Glu815Gly) c.2390A>G (p.Glu797Gly) c.1787A>G (p.Glu596Gly) c.2297A>G (p.Glu766Gly) c.1958A>G (p.Glu653Gly) c.2306A>G (p.Glu769Gly) c.2241+173A>G (n.2241+173A>G) c.2205+173A>G (n.2205+173A>G) c.2336A>G (p.Glu779Gly) c.2133+173A>G (n.2133+173A>G) c.1680-6030A>G (n.1680-6030A>G) c.2432A>G (p.Glu811Gly) c.2498A>G (p.Glu833Gly) c.2495A>G (p.Glu832Gly) c.2468A>G (p.Glu823Gly) c.2414A>G (p.Glu805Gly) c.2387A>G (p.Glu796Gly) c.2372A>G (p.Glu791Gly) c.1979A>G (p.Glu660Gly) c.2441A>G (p.Glu814Gly) c.2378A>G (p.Glu793Gly) c.2375A>G (p.Glu792Gly) c.2333A>G (p.Glu778Gly) c.1406A>G (p.Glu469Gly) | |
20 | g.63406873T>G | CA409637322 | KCNQ2 | c.2444A>C (p.Glu815Ala) c.2390A>C (p.Glu797Ala) c.1787A>C (p.Glu596Ala) c.2297A>C (p.Glu766Ala) c.1958A>C (p.Glu653Ala) c.2306A>C (p.Glu769Ala) c.2241+173A>C (n.2241+173A>C) c.2205+173A>C (n.2205+173A>C) c.2336A>C (p.Glu779Ala) c.2133+173A>C (n.2133+173A>C) c.1680-6030A>C (n.1680-6030A>C) c.2432A>C (p.Glu811Ala) c.2498A>C (p.Glu833Ala) c.2495A>C (p.Glu832Ala) c.2468A>C (p.Glu823Ala) c.2414A>C (p.Glu805Ala) c.2387A>C (p.Glu796Ala) c.2372A>C (p.Glu791Ala) c.1979A>C (p.Glu660Ala) c.2441A>C (p.Glu814Ala) c.2378A>C (p.Glu793Ala) c.2375A>C (p.Glu792Ala) c.2333A>C (p.Glu778Ala) c.1406A>C (p.Glu469Ala) | |
20 | g.63406874C>A | CA409637324 | KCNQ2 | c.2443G>T (p.Glu815Ter) c.2389G>T (p.Glu797Ter) c.1786G>T (p.Glu596Ter) c.2296G>T (p.Glu766Ter) c.1957G>T (p.Glu653Ter) c.2305G>T (p.Glu769Ter) c.2241+172G>T (n.2241+172G>T) c.2205+172G>T (n.2205+172G>T) c.2335G>T (p.Glu779Ter) c.2133+172G>T (n.2133+172G>T) c.1680-6031G>T (n.1680-6031G>T) c.2431G>T (p.Glu811Ter) c.2497G>T (p.Glu833Ter) c.2494G>T (p.Glu832Ter) c.2467G>T (p.Glu823Ter) c.2413G>T (p.Glu805Ter) c.2386G>T (p.Glu796Ter) c.2371G>T (p.Glu791Ter) c.1978G>T (p.Glu660Ter) c.2440G>T (p.Glu814Ter) c.2377G>T (p.Glu793Ter) c.2374G>T (p.Glu792Ter) c.2332G>T (p.Glu778Ter) c.1405G>T (p.Glu469Ter) | |
20 | g.63406874C>G | CA409637326 | KCNQ2 | c.2443G>C (p.Glu815Gln) c.2389G>C (p.Glu797Gln) c.1786G>C (p.Glu596Gln) c.2296G>C (p.Glu766Gln) c.1957G>C (p.Glu653Gln) c.2305G>C (p.Glu769Gln) c.2241+172G>C (n.2241+172G>C) c.2205+172G>C (n.2205+172G>C) c.2335G>C (p.Glu779Gln) c.2133+172G>C (n.2133+172G>C) c.1680-6031G>C (n.1680-6031G>C) c.2431G>C (p.Glu811Gln) c.2497G>C (p.Glu833Gln) c.2494G>C (p.Glu832Gln) c.2467G>C (p.Glu823Gln) c.2413G>C (p.Glu805Gln) c.2386G>C (p.Glu796Gln) c.2371G>C (p.Glu791Gln) c.1978G>C (p.Glu660Gln) c.2440G>C (p.Glu814Gln) c.2377G>C (p.Glu793Gln) c.2374G>C (p.Glu792Gln) c.2332G>C (p.Glu778Gln) c.1405G>C (p.Glu469Gln) | |
20 | g.63406874C>T | CA409637329 | KCNQ2 | c.2443G>A (p.Glu815Lys) c.2389G>A (p.Glu797Lys) c.1786G>A (p.Glu596Lys) c.2296G>A (p.Glu766Lys) c.1957G>A (p.Glu653Lys) c.2305G>A (p.Glu769Lys) c.2241+172G>A (n.2241+172G>A) c.2205+172G>A (n.2205+172G>A) c.2335G>A (p.Glu779Lys) c.2133+172G>A (n.2133+172G>A) c.1680-6031G>A (n.1680-6031G>A) c.2431G>A (p.Glu811Lys) c.2497G>A (p.Glu833Lys) c.2494G>A (p.Glu832Lys) c.2467G>A (p.Glu823Lys) c.2413G>A (p.Glu805Lys) c.2386G>A (p.Glu796Lys) c.2371G>A (p.Glu791Lys) c.1978G>A (p.Glu660Lys) c.2440G>A (p.Glu814Lys) c.2377G>A (p.Glu793Lys) c.2374G>A (p.Glu792Lys) c.2332G>A (p.Glu778Lys) c.1405G>A (p.Glu469Lys) | gnomAD v4 |
20 | g.63406875C>A | CA409637336 | KCNQ2 | c.2442G>T (p.Glu814Asp) c.2388G>T (p.Glu796Asp) c.1785G>T (p.Glu595Asp) c.2295G>T (p.Glu765Asp) c.1956G>T (p.Glu652Asp) c.2304G>T (p.Glu768Asp) c.2241+171G>T (n.2241+171G>T) c.2205+171G>T (n.2205+171G>T) c.2334G>T (p.Glu778Asp) c.2133+171G>T (n.2133+171G>T) c.1680-6032G>T (n.1680-6032G>T) c.2430G>T (p.Glu810Asp) c.2496G>T (p.Glu832Asp) c.2493G>T (p.Glu831Asp) c.2466G>T (p.Glu822Asp) c.2412G>T (p.Glu804Asp) c.2385G>T (p.Glu795Asp) c.2370G>T (p.Glu790Asp) c.1977G>T (p.Glu659Asp) c.2439G>T (p.Glu813Asp) c.2376G>T (p.Glu792Asp) c.2373G>T (p.Glu791Asp) c.2331G>T (p.Glu777Asp) c.1404G>T (p.Glu468Asp) | |
20 | g.63406875C= | CA2374774282 | KCNQ2 | c.2442G= (p.Glu814=) c.2388G= (p.Glu796=) c.1785G= (p.Glu595=) c.2295G= (p.Glu765=) c.1956G= (p.Glu652=) c.2304G= (p.Glu768=) c.2241+171G= (n.2241+171G=) c.2205+171G= (n.2205+171G=) c.2334G= (p.Glu778=) c.2133+171G= (n.2133+171G=) c.1680-6032G= (n.1680-6032G=) c.2430G= (p.Glu810=) c.2496G= (p.Glu832=) c.2493G= (p.Glu831=) c.2466G= (p.Glu822=) c.2412G= (p.Glu804=) c.2385G= (p.Glu795=) c.2370G= (p.Glu790=) c.1977G= (p.Glu659=) c.2439G= (p.Glu813=) c.2376G= (p.Glu792=) c.2373G= (p.Glu791=) c.2331G= (p.Glu777=) c.1404G= (p.Glu468=) | |
20 | g.63406875C>G | CA409637333 | KCNQ2 | c.2442G>C (p.Glu814Asp) c.2388G>C (p.Glu796Asp) c.1785G>C (p.Glu595Asp) c.2295G>C (p.Glu765Asp) c.1956G>C (p.Glu652Asp) c.2304G>C (p.Glu768Asp) c.2241+171G>C (n.2241+171G>C) c.2205+171G>C (n.2205+171G>C) c.2334G>C (p.Glu778Asp) c.2133+171G>C (n.2133+171G>C) c.1680-6032G>C (n.1680-6032G>C) c.2430G>C (p.Glu810Asp) c.2496G>C (p.Glu832Asp) c.2493G>C (p.Glu831Asp) c.2466G>C (p.Glu822Asp) c.2412G>C (p.Glu804Asp) c.2385G>C (p.Glu795Asp) c.2370G>C (p.Glu790Asp) c.1977G>C (p.Glu659Asp) c.2439G>C (p.Glu813Asp) c.2376G>C (p.Glu792Asp) c.2373G>C (p.Glu791Asp) c.2331G>C (p.Glu777Asp) c.1404G>C (p.Glu468Asp) | |
20 | g.63406875C>T | CA9958082 | KCNQ2 | c.2442G>A (p.Glu814=) c.2388G>A (p.Glu796=) c.1785G>A (p.Glu595=) c.2295G>A (p.Glu765=) c.1956G>A (p.Glu652=) c.2304G>A (p.Glu768=) c.2241+171G>A (n.2241+171G>A) c.2205+171G>A (n.2205+171G>A) c.2334G>A (p.Glu778=) c.2133+171G>A (n.2133+171G>A) c.1680-6032G>A (n.1680-6032G>A) c.2430G>A (p.Glu810=) c.2496G>A (p.Glu832=) c.2493G>A (p.Glu831=) c.2466G>A (p.Glu822=) c.2412G>A (p.Glu804=) c.2385G>A (p.Glu795=) c.2370G>A (p.Glu790=) c.1977G>A (p.Glu659=) c.2439G>A (p.Glu813=) c.2376G>A (p.Glu792=) c.2373G>A (p.Glu791=) c.2331G>A (p.Glu777=) c.1404G>A (p.Glu468=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.63406876T>A | CA409637340 | KCNQ2 | c.2441A>T (p.Glu814Val) c.2387A>T (p.Glu796Val) c.1784A>T (p.Glu595Val) c.2294A>T (p.Glu765Val) c.1955A>T (p.Glu652Val) c.2303A>T (p.Glu768Val) c.2241+170A>T (n.2241+170A>T) c.2205+170A>T (n.2205+170A>T) c.2333A>T (p.Glu778Val) c.2133+170A>T (n.2133+170A>T) c.1680-6033A>T (n.1680-6033A>T) c.2429A>T (p.Glu810Val) c.2495A>T (p.Glu832Val) c.2492A>T (p.Glu831Val) c.2465A>T (p.Glu822Val) c.2411A>T (p.Glu804Val) c.2384A>T (p.Glu795Val) c.2369A>T (p.Glu790Val) c.1976A>T (p.Glu659Val) c.2438A>T (p.Glu813Val) c.2375A>T (p.Glu792Val) c.2372A>T (p.Glu791Val) c.2330A>T (p.Glu777Val) c.1403A>T (p.Glu468Val) | |
20 | g.63406876T>C | CA409637343 | KCNQ2 | c.2441A>G (p.Glu814Gly) c.2387A>G (p.Glu796Gly) c.1784A>G (p.Glu595Gly) c.2294A>G (p.Glu765Gly) c.1955A>G (p.Glu652Gly) c.2303A>G (p.Glu768Gly) c.2241+170A>G (n.2241+170A>G) c.2205+170A>G (n.2205+170A>G) c.2333A>G (p.Glu778Gly) c.2133+170A>G (n.2133+170A>G) c.1680-6033A>G (n.1680-6033A>G) c.2429A>G (p.Glu810Gly) c.2495A>G (p.Glu832Gly) c.2492A>G (p.Glu831Gly) c.2465A>G (p.Glu822Gly) c.2411A>G (p.Glu804Gly) c.2384A>G (p.Glu795Gly) c.2369A>G (p.Glu790Gly) c.1976A>G (p.Glu659Gly) c.2438A>G (p.Glu813Gly) c.2375A>G (p.Glu792Gly) c.2372A>G (p.Glu791Gly) c.2330A>G (p.Glu777Gly) c.1403A>G (p.Glu468Gly) | |
20 | g.63406876T>G | CA409637344 | KCNQ2 | c.2441A>C (p.Glu814Ala) c.2387A>C (p.Glu796Ala) c.1784A>C (p.Glu595Ala) c.2294A>C (p.Glu765Ala) c.1955A>C (p.Glu652Ala) c.2303A>C (p.Glu768Ala) c.2241+170A>C (n.2241+170A>C) c.2205+170A>C (n.2205+170A>C) c.2333A>C (p.Glu778Ala) c.2133+170A>C (n.2133+170A>C) c.1680-6033A>C (n.1680-6033A>C) c.2429A>C (p.Glu810Ala) c.2495A>C (p.Glu832Ala) c.2492A>C (p.Glu831Ala) c.2465A>C (p.Glu822Ala) c.2411A>C (p.Glu804Ala) c.2384A>C (p.Glu795Ala) c.2369A>C (p.Glu790Ala) c.1976A>C (p.Glu659Ala) c.2438A>C (p.Glu813Ala) c.2375A>C (p.Glu792Ala) c.2372A>C (p.Glu791Ala) c.2330A>C (p.Glu777Ala) c.1403A>C (p.Glu468Ala) | |
20 | g.63406877C>A | CA409637348 | KCNQ2 | c.2440G>T (p.Glu814Ter) c.2386G>T (p.Glu796Ter) c.1783G>T (p.Glu595Ter) c.2293G>T (p.Glu765Ter) c.1954G>T (p.Glu652Ter) c.2302G>T (p.Glu768Ter) c.2241+169G>T (n.2241+169G>T) c.2205+169G>T (n.2205+169G>T) c.2332G>T (p.Glu778Ter) c.2133+169G>T (n.2133+169G>T) c.1680-6034G>T (n.1680-6034G>T) c.2428G>T (p.Glu810Ter) c.2494G>T (p.Glu832Ter) c.2491G>T (p.Glu831Ter) c.2464G>T (p.Glu822Ter) c.2410G>T (p.Glu804Ter) c.2383G>T (p.Glu795Ter) c.2368G>T (p.Glu790Ter) c.1975G>T (p.Glu659Ter) c.2437G>T (p.Glu813Ter) c.2374G>T (p.Glu792Ter) c.2371G>T (p.Glu791Ter) c.2329G>T (p.Glu777Ter) c.1402G>T (p.Glu468Ter) | |
20 | g.63406877C= | CA2374774283 | KCNQ2 | c.2440G= (p.Glu814=) c.2386G= (p.Glu796=) c.1783G= (p.Glu595=) c.2293G= (p.Glu765=) c.1954G= (p.Glu652=) c.2302G= (p.Glu768=) c.2241+169G= (n.2241+169G=) c.2205+169G= (n.2205+169G=) c.2332G= (p.Glu778=) c.2133+169G= (n.2133+169G=) c.1680-6034G= (n.1680-6034G=) c.2428G= (p.Glu810=) c.2494G= (p.Glu832=) c.2491G= (p.Glu831=) c.2464G= (p.Glu822=) c.2410G= (p.Glu804=) c.2383G= (p.Glu795=) c.2368G= (p.Glu790=) c.1975G= (p.Glu659=) c.2437G= (p.Glu813=) c.2374G= (p.Glu792=) c.2371G= (p.Glu791=) c.2329G= (p.Glu777=) c.1402G= (p.Glu468=) | |
20 | g.63406877C>G | CA409637350 | KCNQ2 | c.2440G>C (p.Glu814Gln) c.2386G>C (p.Glu796Gln) c.1783G>C (p.Glu595Gln) c.2293G>C (p.Glu765Gln) c.1954G>C (p.Glu652Gln) c.2302G>C (p.Glu768Gln) c.2241+169G>C (n.2241+169G>C) c.2205+169G>C (n.2205+169G>C) c.2332G>C (p.Glu778Gln) c.2133+169G>C (n.2133+169G>C) c.1680-6034G>C (n.1680-6034G>C) c.2428G>C (p.Glu810Gln) c.2494G>C (p.Glu832Gln) c.2491G>C (p.Glu831Gln) c.2464G>C (p.Glu822Gln) c.2410G>C (p.Glu804Gln) c.2383G>C (p.Glu795Gln) c.2368G>C (p.Glu790Gln) c.1975G>C (p.Glu659Gln) c.2437G>C (p.Glu813Gln) c.2374G>C (p.Glu792Gln) c.2371G>C (p.Glu791Gln) c.2329G>C (p.Glu777Gln) c.1402G>C (p.Glu468Gln) | |
20 | g.63406877C>T | CA409637353 | KCNQ2 | c.2440G>A (p.Glu814Lys) c.2386G>A (p.Glu796Lys) c.1783G>A (p.Glu595Lys) c.2293G>A (p.Glu765Lys) c.1954G>A (p.Glu652Lys) c.2302G>A (p.Glu768Lys) c.2241+169G>A (n.2241+169G>A) c.2205+169G>A (n.2205+169G>A) c.2332G>A (p.Glu778Lys) c.2133+169G>A (n.2133+169G>A) c.1680-6034G>A (n.1680-6034G>A) c.2428G>A (p.Glu810Lys) c.2494G>A (p.Glu832Lys) c.2491G>A (p.Glu831Lys) c.2464G>A (p.Glu822Lys) c.2410G>A (p.Glu804Lys) c.2383G>A (p.Glu795Lys) c.2368G>A (p.Glu790Lys) c.1975G>A (p.Glu659Lys) c.2437G>A (p.Glu813Lys) c.2374G>A (p.Glu792Lys) c.2371G>A (p.Glu791Lys) c.2329G>A (p.Glu777Lys) c.1402G>A (p.Glu468Lys) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.63406878G>A | CA291812 | KCNQ2 | c.2439C>T (p.His813=) c.2385C>T (p.His795=) c.1782C>T (p.His594=) c.2292C>T (p.His764=) c.1953C>T (p.His651=) c.2301C>T (p.His767=) c.2241+168C>T (n.2241+168C>T) c.2205+168C>T (n.2205+168C>T) c.2331C>T (p.His777=) c.2133+168C>T (n.2133+168C>T) c.1680-6035C>T (n.1680-6035C>T) c.2427C>T (p.His809=) c.2493C>T (p.His831=) c.2490C>T (p.His830=) c.2463C>T (p.His821=) c.2409C>T (p.His803=) c.2382C>T (p.His794=) c.2367C>T (p.His789=) c.1974C>T (p.His658=) c.2436C>T (p.His812=) c.2373C>T (p.His791=) c.2370C>T (p.His790=) c.2328C>T (p.His776=) c.1401C>T (p.His467=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.63406878G>C | CA409637361 | KCNQ2 | c.2439C>G (p.His813Gln) c.2385C>G (p.His795Gln) c.1782C>G (p.His594Gln) c.2292C>G (p.His764Gln) c.1953C>G (p.His651Gln) c.2301C>G (p.His767Gln) c.2241+168C>G (n.2241+168C>G) c.2205+168C>G (n.2205+168C>G) c.2331C>G (p.His777Gln) c.2133+168C>G (n.2133+168C>G) c.1680-6035C>G (n.1680-6035C>G) c.2427C>G (p.His809Gln) c.2493C>G (p.His831Gln) c.2490C>G (p.His830Gln) c.2463C>G (p.His821Gln) c.2409C>G (p.His803Gln) c.2382C>G (p.His794Gln) c.2367C>G (p.His789Gln) c.1974C>G (p.His658Gln) c.2436C>G (p.His812Gln) c.2373C>G (p.His791Gln) c.2370C>G (p.His790Gln) c.2328C>G (p.His776Gln) c.1401C>G (p.His467Gln) | |
20 | g.63406878G= | CA2374774284 | KCNQ2 | c.2439C= (p.His813=) c.2385C= (p.His795=) c.1782C= (p.His594=) c.2292C= (p.His764=) c.1953C= (p.His651=) c.2301C= (p.His767=) c.2241+168C= (n.2241+168C=) c.2205+168C= (n.2205+168C=) c.2331C= (p.His777=) c.2133+168C= (n.2133+168C=) c.1680-6035C= (n.1680-6035C=) c.2427C= (p.His809=) c.2493C= (p.His831=) c.2490C= (p.His830=) c.2463C= (p.His821=) c.2409C= (p.His803=) c.2382C= (p.His794=) c.2367C= (p.His789=) c.1974C= (p.His658=) c.2436C= (p.His812=) c.2373C= (p.His791=) c.2370C= (p.His790=) c.2328C= (p.His776=) c.1401C= (p.His467=) | |
20 | g.63406878G>T | CA409637358 | KCNQ2 | c.2439C>A (p.His813Gln) c.2385C>A (p.His795Gln) c.1782C>A (p.His594Gln) c.2292C>A (p.His764Gln) c.1953C>A (p.His651Gln) c.2301C>A (p.His767Gln) c.2241+168C>A (n.2241+168C>A) c.2205+168C>A (n.2205+168C>A) c.2331C>A (p.His777Gln) c.2133+168C>A (n.2133+168C>A) c.1680-6035C>A (n.1680-6035C>A) c.2427C>A (p.His809Gln) c.2493C>A (p.His831Gln) c.2490C>A (p.His830Gln) c.2463C>A (p.His821Gln) c.2409C>A (p.His803Gln) c.2382C>A (p.His794Gln) c.2367C>A (p.His789Gln) c.1974C>A (p.His658Gln) c.2436C>A (p.His812Gln) c.2373C>A (p.His791Gln) c.2370C>A (p.His790Gln) c.2328C>A (p.His776Gln) c.1401C>A (p.His467Gln) |