| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63406638_63406666del | CA2653804141 | KCNQ2 | c.2659_*14del (n.[c.2659_*14del;Gly887SerfsTer28]) c.2605_*14del (n.[c.2605_*14del;Gly869SerfsTer28]) c.2002_*14del (n.[c.2002_*14del;Gly668SerfsTer28]) c.2512_*14del (n.[c.2512_*14del;Gly838SerfsTer28]) c.2173_2201del (n.[c.2173_2201del;Gly725SerfsTer28]) c.2521_*14del (n.[c.2521_*14del;Gly841SerfsTer28]) c.2241+388_2241+416del (n.2241+388_2241+416del) c.2205+388_2205+416del (n.2205+388_2205+416del) c.2551_*14del (n.[c.2551_*14del;Gly851SerfsTer28]) c.2133+388_2133+416del (n.2133+388_2133+416del) c.1680-5815_1680-5787del (n.1680-5815_1680-5787del) c.2647_*14del (n.[c.2647_*14del;Gly883SerfsTer28]) c.2713_*14del (n.[c.2713_*14del;Gly905SerfsTer28]) c.2710_*14del (n.[c.2710_*14del;Gly904SerfsTer28]) c.2683_*14del (n.[c.2683_*14del;Gly895SerfsTer28]) c.2629_*14del (n.[c.2629_*14del;Gly877SerfsTer28]) c.2602_*14del (n.[c.2602_*14del;Gly868SerfsTer28]) c.2587_*14del (n.[c.2587_*14del;Gly863SerfsTer28]) c.2194_*14del (n.[c.2194_*14del;Gly732SerfsTer28]) c.2656_*14del (n.[c.2656_*14del;Gly886SerfsTer28]) c.2593_*14del (n.[c.2593_*14del;Gly865SerfsTer28]) c.2590_*14del (n.[c.2590_*14del;Gly864SerfsTer28]) c.2548_*14del (n.[c.2548_*14del;Gly850SerfsTer28]) c.1621_*14del (n.[c.1621_*14del;Gly541SerfsTer28]) | gnomAD v4 |
| 20 | g.63406665_63406669dup | CA10654777 | KCNQ2 | c.2653_2657dup (p.Arg889GlyfsTer?) c.2599_2603dup (p.Arg871GlyfsTer?) c.1996_2000dup (p.Arg670GlyfsTer?) c.2506_2510dup (p.Arg840GlyfsTer?) c.2167_2171dup (p.Arg727GlyfsTer?) c.2515_2519dup (p.Arg843GlyfsTer?) c.2241+382_2241+386dup (n.2241+382_2241+386dup) c.2205+382_2205+386dup (n.2205+382_2205+386dup) c.2545_2549dup (p.Arg853GlyfsTer?) c.2133+382_2133+386dup (n.2133+382_2133+386dup) c.1680-5821_1680-5817dup (n.1680-5821_1680-5817dup) c.2641_2645dup (p.Arg885GlyfsTer?) c.2707_2711dup (p.Arg907GlyfsTer?) c.2704_2708dup (p.Arg906GlyfsTer?) c.2677_2681dup (p.Arg897GlyfsTer?) c.2623_2627dup (p.Arg879GlyfsTer?) c.2596_2600dup (p.Arg870GlyfsTer?) c.2581_2585dup (p.Arg865GlyfsTer?) c.2188_2192dup (p.Arg734GlyfsTer?) c.2650_2654dup (p.Arg888GlyfsTer?) c.2587_2591dup (p.Arg867GlyfsTer?) c.2584_2588dup (p.Arg866GlyfsTer?) c.2542_2546dup (p.Arg852GlyfsTer?) c.1615_1619dup (p.Arg543GlyfsTer?) | dbSNP |
| 20 | g.63406665_63406666delinsGC | CA2374774183 | KCNQ2 | c.2651_2652delinsGC (p.Gly884=) c.2597_2598delinsGC (p.Gly866=) c.1994_1995delinsGC (p.Gly665=) c.2504_2505delinsGC (p.Gly835=) c.2165_2166delinsGC (p.Gly722=) c.2513_2514delinsGC (p.Gly838=) c.2241+380_2241+381delinsGC (n.2241+380_2241+381delinsGC) c.2205+380_2205+381delinsGC (n.2205+380_2205+381delinsGC) c.2543_2544delinsGC (p.Gly848=) c.2133+380_2133+381delinsGC (n.2133+380_2133+381delinsGC) c.1680-5823_1680-5822delinsGC (n.1680-5823_1680-5822delinsGC) c.2639_2640delinsGC (p.Gly880=) c.2705_2706delinsGC (p.Gly902=) c.2702_2703delinsGC (p.Gly901=) c.2675_2676delinsGC (p.Gly892=) c.2621_2622delinsGC (p.Gly874=) c.2594_2595delinsGC (p.Gly865=) c.2579_2580delinsGC (p.Gly860=) c.2186_2187delinsGC (p.Gly729=) c.2648_2649delinsGC (p.Gly883=) c.2585_2586delinsGC (p.Gly862=) c.2582_2583delinsGC (p.Gly861=) c.2540_2541delinsGC (p.Gly847=) c.1613_1614delinsGC (p.Gly538=) | |
| 20 | g.63406666C>A | CA409636395 | KCNQ2 | c.2651G>T (p.Gly884Val) c.2597G>T (p.Gly866Val) c.1994G>T (p.Gly665Val) c.2504G>T (p.Gly835Val) c.2165G>T (p.Gly722Val) c.2513G>T (p.Gly838Val) c.2241+380G>T (n.2241+380G>T) c.2205+380G>T (n.2205+380G>T) c.2543G>T (p.Gly848Val) c.2133+380G>T (n.2133+380G>T) c.1680-5823G>T (n.1680-5823G>T) c.2639G>T (p.Gly880Val) c.2705G>T (p.Gly902Val) c.2702G>T (p.Gly901Val) c.2675G>T (p.Gly892Val) c.2621G>T (p.Gly874Val) c.2594G>T (p.Gly865Val) c.2579G>T (p.Gly860Val) c.2186G>T (p.Gly729Val) c.2648G>T (p.Gly883Val) c.2585G>T (p.Gly862Val) c.2582G>T (p.Gly861Val) c.2540G>T (p.Gly847Val) c.1613G>T (p.Gly538Val) | gnomAD v4 |
| 20 | g.63406666C>G | CA409636396 | KCNQ2 | c.2651G>C (p.Gly884Ala) c.2597G>C (p.Gly866Ala) c.1994G>C (p.Gly665Ala) c.2504G>C (p.Gly835Ala) c.2165G>C (p.Gly722Ala) c.2513G>C (p.Gly838Ala) c.2241+380G>C (n.2241+380G>C) c.2205+380G>C (n.2205+380G>C) c.2543G>C (p.Gly848Ala) c.2133+380G>C (n.2133+380G>C) c.1680-5823G>C (n.1680-5823G>C) c.2639G>C (p.Gly880Ala) c.2705G>C (p.Gly902Ala) c.2702G>C (p.Gly901Ala) c.2675G>C (p.Gly892Ala) c.2621G>C (p.Gly874Ala) c.2594G>C (p.Gly865Ala) c.2579G>C (p.Gly860Ala) c.2186G>C (p.Gly729Ala) c.2648G>C (p.Gly883Ala) c.2585G>C (p.Gly862Ala) c.2582G>C (p.Gly861Ala) c.2540G>C (p.Gly847Ala) c.1613G>C (p.Gly538Ala) | |
| 20 | g.63406666C>T | CA409636398 | KCNQ2 | c.2651G>A (p.Gly884Asp) c.2597G>A (p.Gly866Asp) c.1994G>A (p.Gly665Asp) c.2504G>A (p.Gly835Asp) c.2165G>A (p.Gly722Asp) c.2513G>A (p.Gly838Asp) c.2241+380G>A (n.2241+380G>A) c.2205+380G>A (n.2205+380G>A) c.2543G>A (p.Gly848Asp) c.2133+380G>A (n.2133+380G>A) c.1680-5823G>A (n.1680-5823G>A) c.2639G>A (p.Gly880Asp) c.2705G>A (p.Gly902Asp) c.2702G>A (p.Gly901Asp) c.2675G>A (p.Gly892Asp) c.2621G>A (p.Gly874Asp) c.2594G>A (p.Gly865Asp) c.2579G>A (p.Gly860Asp) c.2186G>A (p.Gly729Asp) c.2648G>A (p.Gly883Asp) c.2585G>A (p.Gly862Asp) c.2582G>A (p.Gly861Asp) c.2540G>A (p.Gly847Asp) c.1613G>A (p.Gly538Asp) | gnomAD v4 |
| 20 | g.63406668del | CA342495 | KCNQ2 | c.2651del (p.Gly884AlafsTer?) c.2597del (p.Gly866AlafsTer?) c.1994del (p.Gly665AlafsTer?) c.2504del (p.Gly835AlafsTer?) c.2165del (p.Gly722AlafsTer?) c.2513del (p.Gly838AlafsTer?) c.2241+380del (n.2241+380del) c.2205+380del (n.2205+380del) c.2543del (p.Gly848AlafsTer?) c.2133+380del (n.2133+380del) c.1680-5823del (n.1680-5823del) c.2639del (p.Gly880AlafsTer?) c.2705del (p.Gly902AlafsTer?) c.2702del (p.Gly901AlafsTer?) c.2675del (p.Gly892AlafsTer?) c.2621del (p.Gly874AlafsTer?) c.2594del (p.Gly865AlafsTer?) c.2579del (p.Gly860AlafsTer?) c.2186del (p.Gly729AlafsTer?) c.2648del (p.Gly883AlafsTer?) c.2585del (p.Gly862AlafsTer?) c.2582del (p.Gly861AlafsTer?) c.2540del (p.Gly847AlafsTer?) c.1613del (p.Gly538AlafsTer?) | ClinVar dbSNP |
| 20 | g.63406667C>A | CA409636401 | KCNQ2 | c.2650G>T (p.Gly884Cys) c.2596G>T (p.Gly866Cys) c.1993G>T (p.Gly665Cys) c.2503G>T (p.Gly835Cys) c.2164G>T (p.Gly722Cys) c.2512G>T (p.Gly838Cys) c.2241+379G>T (n.2241+379G>T) c.2205+379G>T (n.2205+379G>T) c.2542G>T (p.Gly848Cys) c.2133+379G>T (n.2133+379G>T) c.1680-5824G>T (n.1680-5824G>T) c.2638G>T (p.Gly880Cys) c.2704G>T (p.Gly902Cys) c.2701G>T (p.Gly901Cys) c.2674G>T (p.Gly892Cys) c.2620G>T (p.Gly874Cys) c.2593G>T (p.Gly865Cys) c.2578G>T (p.Gly860Cys) c.2185G>T (p.Gly729Cys) c.2647G>T (p.Gly883Cys) c.2584G>T (p.Gly862Cys) c.2581G>T (p.Gly861Cys) c.2539G>T (p.Gly847Cys) c.1612G>T (p.Gly538Cys) | gnomAD v4 |
| 20 | g.63406667C>G | CA409636403 | KCNQ2 | c.2650G>C (p.Gly884Arg) c.2596G>C (p.Gly866Arg) c.1993G>C (p.Gly665Arg) c.2503G>C (p.Gly835Arg) c.2164G>C (p.Gly722Arg) c.2512G>C (p.Gly838Arg) c.2241+379G>C (n.2241+379G>C) c.2205+379G>C (n.2205+379G>C) c.2542G>C (p.Gly848Arg) c.2133+379G>C (n.2133+379G>C) c.1680-5824G>C (n.1680-5824G>C) c.2638G>C (p.Gly880Arg) c.2704G>C (p.Gly902Arg) c.2701G>C (p.Gly901Arg) c.2674G>C (p.Gly892Arg) c.2620G>C (p.Gly874Arg) c.2593G>C (p.Gly865Arg) c.2578G>C (p.Gly860Arg) c.2185G>C (p.Gly729Arg) c.2647G>C (p.Gly883Arg) c.2584G>C (p.Gly862Arg) c.2581G>C (p.Gly861Arg) c.2539G>C (p.Gly847Arg) c.1612G>C (p.Gly538Arg) | |
| 20 | g.63406667C>T | CA409636405 | KCNQ2 | c.2650G>A (p.Gly884Ser) c.2596G>A (p.Gly866Ser) c.1993G>A (p.Gly665Ser) c.2503G>A (p.Gly835Ser) c.2164G>A (p.Gly722Ser) c.2512G>A (p.Gly838Ser) c.2241+379G>A (n.2241+379G>A) c.2205+379G>A (n.2205+379G>A) c.2542G>A (p.Gly848Ser) c.2133+379G>A (n.2133+379G>A) c.1680-5824G>A (n.1680-5824G>A) c.2638G>A (p.Gly880Ser) c.2704G>A (p.Gly902Ser) c.2701G>A (p.Gly901Ser) c.2674G>A (p.Gly892Ser) c.2620G>A (p.Gly874Ser) c.2593G>A (p.Gly865Ser) c.2578G>A (p.Gly860Ser) c.2185G>A (p.Gly729Ser) c.2647G>A (p.Gly883Ser) c.2584G>A (p.Gly862Ser) c.2581G>A (p.Gly861Ser) c.2539G>A (p.Gly847Ser) c.1612G>A (p.Gly538Ser) | gnomAD v4 |
| 20 | g.63406668C>A | CA511339178 | KCNQ2 | c.2649G>T (p.Val883=) c.2595G>T (p.Val865=) c.1992G>T (p.Val664=) c.2502G>T (p.Val834=) c.2163G>T (p.Val721=) c.2511G>T (p.Val837=) c.2241+378G>T (n.2241+378G>T) c.2205+378G>T (n.2205+378G>T) c.2541G>T (p.Val847=) c.2133+378G>T (n.2133+378G>T) c.1680-5825G>T (n.1680-5825G>T) c.2637G>T (p.Val879=) c.2703G>T (p.Val901=) c.2700G>T (p.Val900=) c.2673G>T (p.Val891=) c.2619G>T (p.Val873=) c.2592G>T (p.Val864=) c.2577G>T (p.Val859=) c.2184G>T (p.Val728=) c.2646G>T (p.Val882=) c.2583G>T (p.Val861=) c.2580G>T (p.Val860=) c.2538G>T (p.Val846=) c.1611G>T (p.Val537=) | gnomAD v4 |
| 20 | g.63406668C>G | CA511339179 | KCNQ2 | c.2649G>C (p.Val883=) c.2595G>C (p.Val865=) c.1992G>C (p.Val664=) c.2502G>C (p.Val834=) c.2163G>C (p.Val721=) c.2511G>C (p.Val837=) c.2241+378G>C (n.2241+378G>C) c.2205+378G>C (n.2205+378G>C) c.2541G>C (p.Val847=) c.2133+378G>C (n.2133+378G>C) c.1680-5825G>C (n.1680-5825G>C) c.2637G>C (p.Val879=) c.2703G>C (p.Val901=) c.2700G>C (p.Val900=) c.2673G>C (p.Val891=) c.2619G>C (p.Val873=) c.2592G>C (p.Val864=) c.2577G>C (p.Val859=) c.2184G>C (p.Val728=) c.2646G>C (p.Val882=) c.2583G>C (p.Val861=) c.2580G>C (p.Val860=) c.2538G>C (p.Val846=) c.1611G>C (p.Val537=) | |
| 20 | g.63406668C>T | CA511339180 | KCNQ2 | c.2649G>A (p.Val883=) c.2595G>A (p.Val865=) c.1992G>A (p.Val664=) c.2502G>A (p.Val834=) c.2163G>A (p.Val721=) c.2511G>A (p.Val837=) c.2241+378G>A (n.2241+378G>A) c.2205+378G>A (n.2205+378G>A) c.2541G>A (p.Val847=) c.2133+378G>A (n.2133+378G>A) c.1680-5825G>A (n.1680-5825G>A) c.2637G>A (p.Val879=) c.2703G>A (p.Val901=) c.2700G>A (p.Val900=) c.2673G>A (p.Val891=) c.2619G>A (p.Val873=) c.2592G>A (p.Val864=) c.2577G>A (p.Val859=) c.2184G>A (p.Val728=) c.2646G>A (p.Val882=) c.2583G>A (p.Val861=) c.2580G>A (p.Val860=) c.2538G>A (p.Val846=) c.1611G>A (p.Val537=) | |
| 20 | g.63406669A= | CA2374774184 | KCNQ2 | c.2648T= (p.Val883=) c.2594T= (p.Val865=) c.1991T= (p.Val664=) c.2501T= (p.Val834=) c.2162T= (p.Val721=) c.2510T= (p.Val837=) c.2241+377T= (n.2241+377T=) c.2205+377T= (n.2205+377T=) c.2540T= (p.Val847=) c.2133+377T= (n.2133+377T=) c.1680-5826T= (n.1680-5826T=) c.2636T= (p.Val879=) c.2702T= (p.Val901=) c.2699T= (p.Val900=) c.2672T= (p.Val891=) c.2618T= (p.Val873=) c.2591T= (p.Val864=) c.2576T= (p.Val859=) c.2183T= (p.Val728=) c.2645T= (p.Val882=) c.2582T= (p.Val861=) c.2579T= (p.Val860=) c.2537T= (p.Val846=) c.1610T= (p.Val537=) | |
| 20 | g.63406669A>C | CA9958053 | KCNQ2 | c.2648T>G (p.Val883Gly) c.2594T>G (p.Val865Gly) c.1991T>G (p.Val664Gly) c.2501T>G (p.Val834Gly) c.2162T>G (p.Val721Gly) c.2510T>G (p.Val837Gly) c.2241+377T>G (n.2241+377T>G) c.2205+377T>G (n.2205+377T>G) c.2540T>G (p.Val847Gly) c.2133+377T>G (n.2133+377T>G) c.1680-5826T>G (n.1680-5826T>G) c.2636T>G (p.Val879Gly) c.2702T>G (p.Val901Gly) c.2699T>G (p.Val900Gly) c.2672T>G (p.Val891Gly) c.2618T>G (p.Val873Gly) c.2591T>G (p.Val864Gly) c.2576T>G (p.Val859Gly) c.2183T>G (p.Val728Gly) c.2645T>G (p.Val882Gly) c.2582T>G (p.Val861Gly) c.2579T>G (p.Val860Gly) c.2537T>G (p.Val846Gly) c.1610T>G (p.Val537Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63406669A>G | CA409636407 | KCNQ2 | c.2648T>C (p.Val883Ala) c.2594T>C (p.Val865Ala) c.1991T>C (p.Val664Ala) c.2501T>C (p.Val834Ala) c.2162T>C (p.Val721Ala) c.2510T>C (p.Val837Ala) c.2241+377T>C (n.2241+377T>C) c.2205+377T>C (n.2205+377T>C) c.2540T>C (p.Val847Ala) c.2133+377T>C (n.2133+377T>C) c.1680-5826T>C (n.1680-5826T>C) c.2636T>C (p.Val879Ala) c.2702T>C (p.Val901Ala) c.2699T>C (p.Val900Ala) c.2672T>C (p.Val891Ala) c.2618T>C (p.Val873Ala) c.2591T>C (p.Val864Ala) c.2576T>C (p.Val859Ala) c.2183T>C (p.Val728Ala) c.2645T>C (p.Val882Ala) c.2582T>C (p.Val861Ala) c.2579T>C (p.Val860Ala) c.2537T>C (p.Val846Ala) c.1610T>C (p.Val537Ala) | |
| 20 | g.63406669A>T | CA409636408 | KCNQ2 | c.2648T>A (p.Val883Glu) c.2594T>A (p.Val865Glu) c.1991T>A (p.Val664Glu) c.2501T>A (p.Val834Glu) c.2162T>A (p.Val721Glu) c.2510T>A (p.Val837Glu) c.2241+377T>A (n.2241+377T>A) c.2205+377T>A (n.2205+377T>A) c.2540T>A (p.Val847Glu) c.2133+377T>A (n.2133+377T>A) c.1680-5826T>A (n.1680-5826T>A) c.2636T>A (p.Val879Glu) c.2702T>A (p.Val901Glu) c.2699T>A (p.Val900Glu) c.2672T>A (p.Val891Glu) c.2618T>A (p.Val873Glu) c.2591T>A (p.Val864Glu) c.2576T>A (p.Val859Glu) c.2183T>A (p.Val728Glu) c.2645T>A (p.Val882Glu) c.2582T>A (p.Val861Glu) c.2579T>A (p.Val860Glu) c.2537T>A (p.Val846Glu) c.1610T>A (p.Val537Glu) | |
| 20 | g.63406670C>A | CA409636413 | KCNQ2 | c.2647G>T (p.Val883Leu) c.2593G>T (p.Val865Leu) c.1990G>T (p.Val664Leu) c.2500G>T (p.Val834Leu) c.2161G>T (p.Val721Leu) c.2509G>T (p.Val837Leu) c.2241+376G>T (n.2241+376G>T) c.2205+376G>T (n.2205+376G>T) c.2539G>T (p.Val847Leu) c.2133+376G>T (n.2133+376G>T) c.1680-5827G>T (n.1680-5827G>T) c.2635G>T (p.Val879Leu) c.2701G>T (p.Val901Leu) c.2698G>T (p.Val900Leu) c.2671G>T (p.Val891Leu) c.2617G>T (p.Val873Leu) c.2590G>T (p.Val864Leu) c.2575G>T (p.Val859Leu) c.2182G>T (p.Val728Leu) c.2644G>T (p.Val882Leu) c.2581G>T (p.Val861Leu) c.2578G>T (p.Val860Leu) c.2536G>T (p.Val846Leu) c.1609G>T (p.Val537Leu) | |
| 20 | g.63406670C= | CA2374774185 | KCNQ2 | c.2647G= (p.Val883=) c.2593G= (p.Val865=) c.1990G= (p.Val664=) c.2500G= (p.Val834=) c.2161G= (p.Val721=) c.2509G= (p.Val837=) c.2241+376G= (n.2241+376G=) c.2205+376G= (n.2205+376G=) c.2539G= (p.Val847=) c.2133+376G= (n.2133+376G=) c.1680-5827G= (n.1680-5827G=) c.2635G= (p.Val879=) c.2701G= (p.Val901=) c.2698G= (p.Val900=) c.2671G= (p.Val891=) c.2617G= (p.Val873=) c.2590G= (p.Val864=) c.2575G= (p.Val859=) c.2182G= (p.Val728=) c.2644G= (p.Val882=) c.2581G= (p.Val861=) c.2578G= (p.Val860=) c.2536G= (p.Val846=) c.1609G= (p.Val537=) | |
| 20 | g.63406670C>G | CA409636410 | KCNQ2 | c.2647G>C (p.Val883Leu) c.2593G>C (p.Val865Leu) c.1990G>C (p.Val664Leu) c.2500G>C (p.Val834Leu) c.2161G>C (p.Val721Leu) c.2509G>C (p.Val837Leu) c.2241+376G>C (n.2241+376G>C) c.2205+376G>C (n.2205+376G>C) c.2539G>C (p.Val847Leu) c.2133+376G>C (n.2133+376G>C) c.1680-5827G>C (n.1680-5827G>C) c.2635G>C (p.Val879Leu) c.2701G>C (p.Val901Leu) c.2698G>C (p.Val900Leu) c.2671G>C (p.Val891Leu) c.2617G>C (p.Val873Leu) c.2590G>C (p.Val864Leu) c.2575G>C (p.Val859Leu) c.2182G>C (p.Val728Leu) c.2644G>C (p.Val882Leu) c.2581G>C (p.Val861Leu) c.2578G>C (p.Val860Leu) c.2536G>C (p.Val846Leu) c.1609G>C (p.Val537Leu) | dbSNP gnomAD v4 |
| 20 | g.63406670C>T | CA317421518 | KCNQ2 | c.2647G>A (p.Val883Met) c.2593G>A (p.Val865Met) c.1990G>A (p.Val664Met) c.2500G>A (p.Val834Met) c.2161G>A (p.Val721Met) c.2509G>A (p.Val837Met) c.2241+376G>A (n.2241+376G>A) c.2205+376G>A (n.2205+376G>A) c.2539G>A (p.Val847Met) c.2133+376G>A (n.2133+376G>A) c.1680-5827G>A (n.1680-5827G>A) c.2635G>A (p.Val879Met) c.2701G>A (p.Val901Met) c.2698G>A (p.Val900Met) c.2671G>A (p.Val891Met) c.2617G>A (p.Val873Met) c.2590G>A (p.Val864Met) c.2575G>A (p.Val859Met) c.2182G>A (p.Val728Met) c.2644G>A (p.Val882Met) c.2581G>A (p.Val861Met) c.2578G>A (p.Val860Met) c.2536G>A (p.Val846Met) c.1609G>A (p.Val537Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.63406671G>A | CA9958054 | KCNQ2 | c.2646C>T (p.Asp882=) c.2592C>T (p.Asp864=) c.1989C>T (p.Asp663=) c.2499C>T (p.Asp833=) c.2160C>T (p.Asp720=) c.2508C>T (p.Asp836=) c.2241+375C>T (n.2241+375C>T) c.2205+375C>T (n.2205+375C>T) c.2538C>T (p.Asp846=) c.2133+375C>T (n.2133+375C>T) c.1680-5828C>T (n.1680-5828C>T) c.2634C>T (p.Asp878=) c.2700C>T (p.Asp900=) c.2697C>T (p.Asp899=) c.2670C>T (p.Asp890=) c.2616C>T (p.Asp872=) c.2589C>T (p.Asp863=) c.2574C>T (p.Asp858=) c.2181C>T (p.Asp727=) c.2643C>T (p.Asp881=) c.2580C>T (p.Asp860=) c.2577C>T (p.Asp859=) c.2535C>T (p.Asp845=) c.1608C>T (p.Asp536=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63406671G>C | CA409636417 | KCNQ2 | c.2646C>G (p.Asp882Glu) c.2592C>G (p.Asp864Glu) c.1989C>G (p.Asp663Glu) c.2499C>G (p.Asp833Glu) c.2160C>G (p.Asp720Glu) c.2508C>G (p.Asp836Glu) c.2241+375C>G (n.2241+375C>G) c.2205+375C>G (n.2205+375C>G) c.2538C>G (p.Asp846Glu) c.2133+375C>G (n.2133+375C>G) c.1680-5828C>G (n.1680-5828C>G) c.2634C>G (p.Asp878Glu) c.2700C>G (p.Asp900Glu) c.2697C>G (p.Asp899Glu) c.2670C>G (p.Asp890Glu) c.2616C>G (p.Asp872Glu) c.2589C>G (p.Asp863Glu) c.2574C>G (p.Asp858Glu) c.2181C>G (p.Asp727Glu) c.2643C>G (p.Asp881Glu) c.2580C>G (p.Asp860Glu) c.2577C>G (p.Asp859Glu) c.2535C>G (p.Asp845Glu) c.1608C>G (p.Asp536Glu) | |
| 20 | g.63406671G= | CA2374774186 | KCNQ2 | c.2646C= (p.Asp882=) c.2592C= (p.Asp864=) c.1989C= (p.Asp663=) c.2499C= (p.Asp833=) c.2160C= (p.Asp720=) c.2508C= (p.Asp836=) c.2241+375C= (n.2241+375C=) c.2205+375C= (n.2205+375C=) c.2538C= (p.Asp846=) c.2133+375C= (n.2133+375C=) c.1680-5828C= (n.1680-5828C=) c.2634C= (p.Asp878=) c.2700C= (p.Asp900=) c.2697C= (p.Asp899=) c.2670C= (p.Asp890=) c.2616C= (p.Asp872=) c.2589C= (p.Asp863=) c.2574C= (p.Asp858=) c.2181C= (p.Asp727=) c.2643C= (p.Asp881=) c.2580C= (p.Asp860=) c.2577C= (p.Asp859=) c.2535C= (p.Asp845=) c.1608C= (p.Asp536=) | |
| 20 | g.63406671G>T | CA409636415 | KCNQ2 | c.2646C>A (p.Asp882Glu) c.2592C>A (p.Asp864Glu) c.1989C>A (p.Asp663Glu) c.2499C>A (p.Asp833Glu) c.2160C>A (p.Asp720Glu) c.2508C>A (p.Asp836Glu) c.2241+375C>A (n.2241+375C>A) c.2205+375C>A (n.2205+375C>A) c.2538C>A (p.Asp846Glu) c.2133+375C>A (n.2133+375C>A) c.1680-5828C>A (n.1680-5828C>A) c.2634C>A (p.Asp878Glu) c.2700C>A (p.Asp900Glu) c.2697C>A (p.Asp899Glu) c.2670C>A (p.Asp890Glu) c.2616C>A (p.Asp872Glu) c.2589C>A (p.Asp863Glu) c.2574C>A (p.Asp858Glu) c.2181C>A (p.Asp727Glu) c.2643C>A (p.Asp881Glu) c.2580C>A (p.Asp860Glu) c.2577C>A (p.Asp859Glu) c.2535C>A (p.Asp845Glu) c.1608C>A (p.Asp536Glu) | gnomAD v4 |
| 20 | g.63406672T>A | CA409636419 | KCNQ2 | c.2645A>T (p.Asp882Val) c.2591A>T (p.Asp864Val) c.1988A>T (p.Asp663Val) c.2498A>T (p.Asp833Val) c.2159A>T (p.Asp720Val) c.2507A>T (p.Asp836Val) c.2241+374A>T (n.2241+374A>T) c.2205+374A>T (n.2205+374A>T) c.2537A>T (p.Asp846Val) c.2133+374A>T (n.2133+374A>T) c.1680-5829A>T (n.1680-5829A>T) c.2633A>T (p.Asp878Val) c.2699A>T (p.Asp900Val) c.2696A>T (p.Asp899Val) c.2669A>T (p.Asp890Val) c.2615A>T (p.Asp872Val) c.2588A>T (p.Asp863Val) c.2573A>T (p.Asp858Val) c.2180A>T (p.Asp727Val) c.2642A>T (p.Asp881Val) c.2579A>T (p.Asp860Val) c.2576A>T (p.Asp859Val) c.2534A>T (p.Asp845Val) c.1607A>T (p.Asp536Val) | |
| 20 | g.63406672T>C | CA409636421 | KCNQ2 | c.2645A>G (p.Asp882Gly) c.2591A>G (p.Asp864Gly) c.1988A>G (p.Asp663Gly) c.2498A>G (p.Asp833Gly) c.2159A>G (p.Asp720Gly) c.2507A>G (p.Asp836Gly) c.2241+374A>G (n.2241+374A>G) c.2205+374A>G (n.2205+374A>G) c.2537A>G (p.Asp846Gly) c.2133+374A>G (n.2133+374A>G) c.1680-5829A>G (n.1680-5829A>G) c.2633A>G (p.Asp878Gly) c.2699A>G (p.Asp900Gly) c.2696A>G (p.Asp899Gly) c.2669A>G (p.Asp890Gly) c.2615A>G (p.Asp872Gly) c.2588A>G (p.Asp863Gly) c.2573A>G (p.Asp858Gly) c.2180A>G (p.Asp727Gly) c.2642A>G (p.Asp881Gly) c.2579A>G (p.Asp860Gly) c.2576A>G (p.Asp859Gly) c.2534A>G (p.Asp845Gly) c.1607A>G (p.Asp536Gly) | |
| 20 | g.63406672T>G | CA409636423 | KCNQ2 | c.2645A>C (p.Asp882Ala) c.2591A>C (p.Asp864Ala) c.1988A>C (p.Asp663Ala) c.2498A>C (p.Asp833Ala) c.2159A>C (p.Asp720Ala) c.2507A>C (p.Asp836Ala) c.2241+374A>C (n.2241+374A>C) c.2205+374A>C (n.2205+374A>C) c.2537A>C (p.Asp846Ala) c.2133+374A>C (n.2133+374A>C) c.1680-5829A>C (n.1680-5829A>C) c.2633A>C (p.Asp878Ala) c.2699A>C (p.Asp900Ala) c.2696A>C (p.Asp899Ala) c.2669A>C (p.Asp890Ala) c.2615A>C (p.Asp872Ala) c.2588A>C (p.Asp863Ala) c.2573A>C (p.Asp858Ala) c.2180A>C (p.Asp727Ala) c.2642A>C (p.Asp881Ala) c.2579A>C (p.Asp860Ala) c.2576A>C (p.Asp859Ala) c.2534A>C (p.Asp845Ala) c.1607A>C (p.Asp536Ala) | |
| 20 | g.63406673C>A | CA409636425 | KCNQ2 | c.2644G>T (p.Asp882Tyr) c.2590G>T (p.Asp864Tyr) c.1987G>T (p.Asp663Tyr) c.2497G>T (p.Asp833Tyr) c.2158G>T (p.Asp720Tyr) c.2506G>T (p.Asp836Tyr) c.2241+373G>T (n.2241+373G>T) c.2205+373G>T (n.2205+373G>T) c.2536G>T (p.Asp846Tyr) c.2133+373G>T (n.2133+373G>T) c.1680-5830G>T (n.1680-5830G>T) c.2632G>T (p.Asp878Tyr) c.2698G>T (p.Asp900Tyr) c.2695G>T (p.Asp899Tyr) c.2668G>T (p.Asp890Tyr) c.2614G>T (p.Asp872Tyr) c.2587G>T (p.Asp863Tyr) c.2572G>T (p.Asp858Tyr) c.2179G>T (p.Asp727Tyr) c.2641G>T (p.Asp881Tyr) c.2578G>T (p.Asp860Tyr) c.2575G>T (p.Asp859Tyr) c.2533G>T (p.Asp845Tyr) c.1606G>T (p.Asp536Tyr) | gnomAD v4 |
| 20 | g.63406673C>G | CA409636426 | KCNQ2 | c.2644G>C (p.Asp882His) c.2590G>C (p.Asp864His) c.1987G>C (p.Asp663His) c.2497G>C (p.Asp833His) c.2158G>C (p.Asp720His) c.2506G>C (p.Asp836His) c.2241+373G>C (n.2241+373G>C) c.2205+373G>C (n.2205+373G>C) c.2536G>C (p.Asp846His) c.2133+373G>C (n.2133+373G>C) c.1680-5830G>C (n.1680-5830G>C) c.2632G>C (p.Asp878His) c.2698G>C (p.Asp900His) c.2695G>C (p.Asp899His) c.2668G>C (p.Asp890His) c.2614G>C (p.Asp872His) c.2587G>C (p.Asp863His) c.2572G>C (p.Asp858His) c.2179G>C (p.Asp727His) c.2641G>C (p.Asp881His) c.2578G>C (p.Asp860His) c.2575G>C (p.Asp859His) c.2533G>C (p.Asp845His) c.1606G>C (p.Asp536His) | |
| 20 | g.63406673C>T | CA409636428 | KCNQ2 | c.2644G>A (p.Asp882Asn) c.2590G>A (p.Asp864Asn) c.1987G>A (p.Asp663Asn) c.2497G>A (p.Asp833Asn) c.2158G>A (p.Asp720Asn) c.2506G>A (p.Asp836Asn) c.2241+373G>A (n.2241+373G>A) c.2205+373G>A (n.2205+373G>A) c.2536G>A (p.Asp846Asn) c.2133+373G>A (n.2133+373G>A) c.1680-5830G>A (n.1680-5830G>A) c.2632G>A (p.Asp878Asn) c.2698G>A (p.Asp900Asn) c.2695G>A (p.Asp899Asn) c.2668G>A (p.Asp890Asn) c.2614G>A (p.Asp872Asn) c.2587G>A (p.Asp863Asn) c.2572G>A (p.Asp858Asn) c.2179G>A (p.Asp727Asn) c.2641G>A (p.Asp881Asn) c.2578G>A (p.Asp860Asn) c.2575G>A (p.Asp859Asn) c.2533G>A (p.Asp845Asn) c.1606G>A (p.Asp536Asn) | |
| 20 | g.63406674A>C | CA511339181 | KCNQ2 | c.2643T>G (p.Gly881=) c.2589T>G (p.Gly863=) c.1986T>G (p.Gly662=) c.2496T>G (p.Gly832=) c.2157T>G (p.Gly719=) c.2505T>G (p.Gly835=) c.2241+372T>G (n.2241+372T>G) c.2205+372T>G (n.2205+372T>G) c.2535T>G (p.Gly845=) c.2133+372T>G (n.2133+372T>G) c.1680-5831T>G (n.1680-5831T>G) c.2631T>G (p.Gly877=) c.2697T>G (p.Gly899=) c.2694T>G (p.Gly898=) c.2667T>G (p.Gly889=) c.2613T>G (p.Gly871=) c.2586T>G (p.Gly862=) c.2571T>G (p.Gly857=) c.2178T>G (p.Gly726=) c.2640T>G (p.Gly880=) c.2577T>G (p.Gly859=) c.2574T>G (p.Gly858=) c.2532T>G (p.Gly844=) c.1605T>G (p.Gly535=) | |
| 20 | g.63406674A>G | CA511339182 | KCNQ2 | c.2643T>C (p.Gly881=) c.2589T>C (p.Gly863=) c.1986T>C (p.Gly662=) c.2496T>C (p.Gly832=) c.2157T>C (p.Gly719=) c.2505T>C (p.Gly835=) c.2241+372T>C (n.2241+372T>C) c.2205+372T>C (n.2205+372T>C) c.2535T>C (p.Gly845=) c.2133+372T>C (n.2133+372T>C) c.1680-5831T>C (n.1680-5831T>C) c.2631T>C (p.Gly877=) c.2697T>C (p.Gly899=) c.2694T>C (p.Gly898=) c.2667T>C (p.Gly889=) c.2613T>C (p.Gly871=) c.2586T>C (p.Gly862=) c.2571T>C (p.Gly857=) c.2178T>C (p.Gly726=) c.2640T>C (p.Gly880=) c.2577T>C (p.Gly859=) c.2574T>C (p.Gly858=) c.2532T>C (p.Gly844=) c.1605T>C (p.Gly535=) | |
| 20 | g.63406674A>T | CA511339183 | KCNQ2 | c.2643T>A (p.Gly881=) c.2589T>A (p.Gly863=) c.1986T>A (p.Gly662=) c.2496T>A (p.Gly832=) c.2157T>A (p.Gly719=) c.2505T>A (p.Gly835=) c.2241+372T>A (n.2241+372T>A) c.2205+372T>A (n.2205+372T>A) c.2535T>A (p.Gly845=) c.2133+372T>A (n.2133+372T>A) c.1680-5831T>A (n.1680-5831T>A) c.2631T>A (p.Gly877=) c.2697T>A (p.Gly899=) c.2694T>A (p.Gly898=) c.2667T>A (p.Gly889=) c.2613T>A (p.Gly871=) c.2586T>A (p.Gly862=) c.2571T>A (p.Gly857=) c.2178T>A (p.Gly726=) c.2640T>A (p.Gly880=) c.2577T>A (p.Gly859=) c.2574T>A (p.Gly858=) c.2532T>A (p.Gly844=) c.1605T>A (p.Gly535=) | |
| 20 | g.63406675C>A | CA409636430 | KCNQ2 | c.2642G>T (p.Gly881Val) c.2588G>T (p.Gly863Val) c.1985G>T (p.Gly662Val) c.2495G>T (p.Gly832Val) c.2156G>T (p.Gly719Val) c.2504G>T (p.Gly835Val) c.2241+371G>T (n.2241+371G>T) c.2205+371G>T (n.2205+371G>T) c.2534G>T (p.Gly845Val) c.2133+371G>T (n.2133+371G>T) c.1680-5832G>T (n.1680-5832G>T) c.2630G>T (p.Gly877Val) c.2696G>T (p.Gly899Val) c.2693G>T (p.Gly898Val) c.2666G>T (p.Gly889Val) c.2612G>T (p.Gly871Val) c.2585G>T (p.Gly862Val) c.2570G>T (p.Gly857Val) c.2177G>T (p.Gly726Val) c.2639G>T (p.Gly880Val) c.2576G>T (p.Gly859Val) c.2573G>T (p.Gly858Val) c.2531G>T (p.Gly844Val) c.1604G>T (p.Gly535Val) | |
| 20 | g.63406675C>G | CA409636432 | KCNQ2 | c.2642G>C (p.Gly881Ala) c.2588G>C (p.Gly863Ala) c.1985G>C (p.Gly662Ala) c.2495G>C (p.Gly832Ala) c.2156G>C (p.Gly719Ala) c.2504G>C (p.Gly835Ala) c.2241+371G>C (n.2241+371G>C) c.2205+371G>C (n.2205+371G>C) c.2534G>C (p.Gly845Ala) c.2133+371G>C (n.2133+371G>C) c.1680-5832G>C (n.1680-5832G>C) c.2630G>C (p.Gly877Ala) c.2696G>C (p.Gly899Ala) c.2693G>C (p.Gly898Ala) c.2666G>C (p.Gly889Ala) c.2612G>C (p.Gly871Ala) c.2585G>C (p.Gly862Ala) c.2570G>C (p.Gly857Ala) c.2177G>C (p.Gly726Ala) c.2639G>C (p.Gly880Ala) c.2576G>C (p.Gly859Ala) c.2573G>C (p.Gly858Ala) c.2531G>C (p.Gly844Ala) c.1604G>C (p.Gly535Ala) | |
| 20 | g.63406675C>T | CA409636434 | KCNQ2 | c.2642G>A (p.Gly881Asp) c.2588G>A (p.Gly863Asp) c.1985G>A (p.Gly662Asp) c.2495G>A (p.Gly832Asp) c.2156G>A (p.Gly719Asp) c.2504G>A (p.Gly835Asp) c.2241+371G>A (n.2241+371G>A) c.2205+371G>A (n.2205+371G>A) c.2534G>A (p.Gly845Asp) c.2133+371G>A (n.2133+371G>A) c.1680-5832G>A (n.1680-5832G>A) c.2630G>A (p.Gly877Asp) c.2696G>A (p.Gly899Asp) c.2693G>A (p.Gly898Asp) c.2666G>A (p.Gly889Asp) c.2612G>A (p.Gly871Asp) c.2585G>A (p.Gly862Asp) c.2570G>A (p.Gly857Asp) c.2177G>A (p.Gly726Asp) c.2639G>A (p.Gly880Asp) c.2576G>A (p.Gly859Asp) c.2573G>A (p.Gly858Asp) c.2531G>A (p.Gly844Asp) c.1604G>A (p.Gly535Asp) | |
| 20 | g.63406676C>A | CA409636436 | KCNQ2 | c.2641G>T (p.Gly881Cys) c.2587G>T (p.Gly863Cys) c.1984G>T (p.Gly662Cys) c.2494G>T (p.Gly832Cys) c.2155G>T (p.Gly719Cys) c.2503G>T (p.Gly835Cys) c.2241+370G>T (n.2241+370G>T) c.2205+370G>T (n.2205+370G>T) c.2533G>T (p.Gly845Cys) c.2133+370G>T (n.2133+370G>T) c.1680-5833G>T (n.1680-5833G>T) c.2629G>T (p.Gly877Cys) c.2695G>T (p.Gly899Cys) c.2692G>T (p.Gly898Cys) c.2665G>T (p.Gly889Cys) c.2611G>T (p.Gly871Cys) c.2584G>T (p.Gly862Cys) c.2569G>T (p.Gly857Cys) c.2176G>T (p.Gly726Cys) c.2638G>T (p.Gly880Cys) c.2575G>T (p.Gly859Cys) c.2572G>T (p.Gly858Cys) c.2530G>T (p.Gly844Cys) c.1603G>T (p.Gly535Cys) | gnomAD v4 |
| 20 | g.63406676C>G | CA409636438 | KCNQ2 | c.2641G>C (p.Gly881Arg) c.2587G>C (p.Gly863Arg) c.1984G>C (p.Gly662Arg) c.2494G>C (p.Gly832Arg) c.2155G>C (p.Gly719Arg) c.2503G>C (p.Gly835Arg) c.2241+370G>C (n.2241+370G>C) c.2205+370G>C (n.2205+370G>C) c.2533G>C (p.Gly845Arg) c.2133+370G>C (n.2133+370G>C) c.1680-5833G>C (n.1680-5833G>C) c.2629G>C (p.Gly877Arg) c.2695G>C (p.Gly899Arg) c.2692G>C (p.Gly898Arg) c.2665G>C (p.Gly889Arg) c.2611G>C (p.Gly871Arg) c.2584G>C (p.Gly862Arg) c.2569G>C (p.Gly857Arg) c.2176G>C (p.Gly726Arg) c.2638G>C (p.Gly880Arg) c.2575G>C (p.Gly859Arg) c.2572G>C (p.Gly858Arg) c.2530G>C (p.Gly844Arg) c.1603G>C (p.Gly535Arg) | gnomAD v4 |
| 20 | g.63406676C>T | CA409636440 | KCNQ2 | c.2641G>A (p.Gly881Ser) c.2587G>A (p.Gly863Ser) c.1984G>A (p.Gly662Ser) c.2494G>A (p.Gly832Ser) c.2155G>A (p.Gly719Ser) c.2503G>A (p.Gly835Ser) c.2241+370G>A (n.2241+370G>A) c.2205+370G>A (n.2205+370G>A) c.2533G>A (p.Gly845Ser) c.2133+370G>A (n.2133+370G>A) c.1680-5833G>A (n.1680-5833G>A) c.2629G>A (p.Gly877Ser) c.2695G>A (p.Gly899Ser) c.2692G>A (p.Gly898Ser) c.2665G>A (p.Gly889Ser) c.2611G>A (p.Gly871Ser) c.2584G>A (p.Gly862Ser) c.2569G>A (p.Gly857Ser) c.2176G>A (p.Gly726Ser) c.2638G>A (p.Gly880Ser) c.2575G>A (p.Gly859Ser) c.2572G>A (p.Gly858Ser) c.2530G>A (p.Gly844Ser) c.1603G>A (p.Gly535Ser) | |
| 20 | g.63406677A= | CA2374774187 | KCNQ2 | c.2640T= (p.Phe880=) c.2586T= (p.Phe862=) c.1983T= (p.Phe661=) c.2493T= (p.Phe831=) c.2154T= (p.Phe718=) c.2502T= (p.Phe834=) c.2241+369T= (n.2241+369T=) c.2205+369T= (n.2205+369T=) c.2532T= (p.Phe844=) c.2133+369T= (n.2133+369T=) c.1680-5834T= (n.1680-5834T=) c.2628T= (p.Phe876=) c.2694T= (p.Phe898=) c.2691T= (p.Phe897=) c.2664T= (p.Phe888=) c.2610T= (p.Phe870=) c.2583T= (p.Phe861=) c.2568T= (p.Phe856=) c.2175T= (p.Phe725=) c.2637T= (p.Phe879=) c.2574T= (p.Phe858=) c.2571T= (p.Phe857=) c.2529T= (p.Phe843=) c.1602T= (p.Phe534=) | |
| 20 | g.63406677A>C | CA409636444 | KCNQ2 | c.2640T>G (p.Phe880Leu) c.2586T>G (p.Phe862Leu) c.1983T>G (p.Phe661Leu) c.2493T>G (p.Phe831Leu) c.2154T>G (p.Phe718Leu) c.2502T>G (p.Phe834Leu) c.2241+369T>G (n.2241+369T>G) c.2205+369T>G (n.2205+369T>G) c.2532T>G (p.Phe844Leu) c.2133+369T>G (n.2133+369T>G) c.1680-5834T>G (n.1680-5834T>G) c.2628T>G (p.Phe876Leu) c.2694T>G (p.Phe898Leu) c.2691T>G (p.Phe897Leu) c.2664T>G (p.Phe888Leu) c.2610T>G (p.Phe870Leu) c.2583T>G (p.Phe861Leu) c.2568T>G (p.Phe856Leu) c.2175T>G (p.Phe725Leu) c.2637T>G (p.Phe879Leu) c.2574T>G (p.Phe858Leu) c.2571T>G (p.Phe857Leu) c.2529T>G (p.Phe843Leu) c.1602T>G (p.Phe534Leu) | |
| 20 | g.63406677A>G | CA511339184 | KCNQ2 | c.2640T>C (p.Phe880=) c.2586T>C (p.Phe862=) c.1983T>C (p.Phe661=) c.2493T>C (p.Phe831=) c.2154T>C (p.Phe718=) c.2502T>C (p.Phe834=) c.2241+369T>C (n.2241+369T>C) c.2205+369T>C (n.2205+369T>C) c.2532T>C (p.Phe844=) c.2133+369T>C (n.2133+369T>C) c.1680-5834T>C (n.1680-5834T>C) c.2628T>C (p.Phe876=) c.2694T>C (p.Phe898=) c.2691T>C (p.Phe897=) c.2664T>C (p.Phe888=) c.2610T>C (p.Phe870=) c.2583T>C (p.Phe861=) c.2568T>C (p.Phe856=) c.2175T>C (p.Phe725=) c.2637T>C (p.Phe879=) c.2574T>C (p.Phe858=) c.2571T>C (p.Phe857=) c.2529T>C (p.Phe843=) c.1602T>C (p.Phe534=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63406677A>T | CA409636442 | KCNQ2 | c.2640T>A (p.Phe880Leu) c.2586T>A (p.Phe862Leu) c.1983T>A (p.Phe661Leu) c.2493T>A (p.Phe831Leu) c.2154T>A (p.Phe718Leu) c.2502T>A (p.Phe834Leu) c.2241+369T>A (n.2241+369T>A) c.2205+369T>A (n.2205+369T>A) c.2532T>A (p.Phe844Leu) c.2133+369T>A (n.2133+369T>A) c.1680-5834T>A (n.1680-5834T>A) c.2628T>A (p.Phe876Leu) c.2694T>A (p.Phe898Leu) c.2691T>A (p.Phe897Leu) c.2664T>A (p.Phe888Leu) c.2610T>A (p.Phe870Leu) c.2583T>A (p.Phe861Leu) c.2568T>A (p.Phe856Leu) c.2175T>A (p.Phe725Leu) c.2637T>A (p.Phe879Leu) c.2574T>A (p.Phe858Leu) c.2571T>A (p.Phe857Leu) c.2529T>A (p.Phe843Leu) c.1602T>A (p.Phe534Leu) | |
| 20 | g.63406679del | CA2653804361 | KCNQ2 | c.2640del (p.Phe880LeufsTer?) c.2586del (p.Phe862LeufsTer?) c.1983del (p.Phe661LeufsTer?) c.2493del (p.Phe831LeufsTer?) c.2154del (p.Phe718LeufsTer?) c.2502del (p.Phe834LeufsTer?) c.2241+369del (n.2241+369del) c.2205+369del (n.2205+369del) c.2532del (p.Phe844LeufsTer?) c.2133+369del (n.2133+369del) c.1680-5834del (n.1680-5834del) c.2628del (p.Phe876LeufsTer?) c.2694del (p.Phe898LeufsTer?) c.2691del (p.Phe897LeufsTer?) c.2664del (p.Phe888LeufsTer?) c.2610del (p.Phe870LeufsTer?) c.2583del (p.Phe861LeufsTer?) c.2568del (p.Phe856LeufsTer?) c.2175del (p.Phe725LeufsTer?) c.2637del (p.Phe879LeufsTer?) c.2574del (p.Phe858LeufsTer?) c.2571del (p.Phe857LeufsTer?) c.2529del (p.Phe843LeufsTer?) c.1602del (p.Phe534LeufsTer?) | gnomAD v4 |
| 20 | g.63406678A>C | CA409636446 | KCNQ2 | c.2639T>G (p.Phe880Cys) c.2585T>G (p.Phe862Cys) c.1982T>G (p.Phe661Cys) c.2492T>G (p.Phe831Cys) c.2153T>G (p.Phe718Cys) c.2501T>G (p.Phe834Cys) c.2241+368T>G (n.2241+368T>G) c.2205+368T>G (n.2205+368T>G) c.2531T>G (p.Phe844Cys) c.2133+368T>G (n.2133+368T>G) c.1680-5835T>G (n.1680-5835T>G) c.2627T>G (p.Phe876Cys) c.2693T>G (p.Phe898Cys) c.2690T>G (p.Phe897Cys) c.2663T>G (p.Phe888Cys) c.2609T>G (p.Phe870Cys) c.2582T>G (p.Phe861Cys) c.2567T>G (p.Phe856Cys) c.2174T>G (p.Phe725Cys) c.2636T>G (p.Phe879Cys) c.2573T>G (p.Phe858Cys) c.2570T>G (p.Phe857Cys) c.2528T>G (p.Phe843Cys) c.1601T>G (p.Phe534Cys) | |
| 20 | g.63406678A>G | CA409636448 | KCNQ2 | c.2639T>C (p.Phe880Ser) c.2585T>C (p.Phe862Ser) c.1982T>C (p.Phe661Ser) c.2492T>C (p.Phe831Ser) c.2153T>C (p.Phe718Ser) c.2501T>C (p.Phe834Ser) c.2241+368T>C (n.2241+368T>C) c.2205+368T>C (n.2205+368T>C) c.2531T>C (p.Phe844Ser) c.2133+368T>C (n.2133+368T>C) c.1680-5835T>C (n.1680-5835T>C) c.2627T>C (p.Phe876Ser) c.2693T>C (p.Phe898Ser) c.2690T>C (p.Phe897Ser) c.2663T>C (p.Phe888Ser) c.2609T>C (p.Phe870Ser) c.2582T>C (p.Phe861Ser) c.2567T>C (p.Phe856Ser) c.2174T>C (p.Phe725Ser) c.2636T>C (p.Phe879Ser) c.2573T>C (p.Phe858Ser) c.2570T>C (p.Phe857Ser) c.2528T>C (p.Phe843Ser) c.1601T>C (p.Phe534Ser) | |
| 20 | g.63406678A>T | CA409636450 | KCNQ2 | c.2639T>A (p.Phe880Tyr) c.2585T>A (p.Phe862Tyr) c.1982T>A (p.Phe661Tyr) c.2492T>A (p.Phe831Tyr) c.2153T>A (p.Phe718Tyr) c.2501T>A (p.Phe834Tyr) c.2241+368T>A (n.2241+368T>A) c.2205+368T>A (n.2205+368T>A) c.2531T>A (p.Phe844Tyr) c.2133+368T>A (n.2133+368T>A) c.1680-5835T>A (n.1680-5835T>A) c.2627T>A (p.Phe876Tyr) c.2693T>A (p.Phe898Tyr) c.2690T>A (p.Phe897Tyr) c.2663T>A (p.Phe888Tyr) c.2609T>A (p.Phe870Tyr) c.2582T>A (p.Phe861Tyr) c.2567T>A (p.Phe856Tyr) c.2174T>A (p.Phe725Tyr) c.2636T>A (p.Phe879Tyr) c.2573T>A (p.Phe858Tyr) c.2570T>A (p.Phe857Tyr) c.2528T>A (p.Phe843Tyr) c.1601T>A (p.Phe534Tyr) | |
| 20 | g.63406679A= | CA2374774188 | KCNQ2 | c.2638T= (p.Phe880=) c.2584T= (p.Phe862=) c.1981T= (p.Phe661=) c.2491T= (p.Phe831=) c.2152T= (p.Phe718=) c.2500T= (p.Phe834=) c.2241+367T= (n.2241+367T=) c.2205+367T= (n.2205+367T=) c.2530T= (p.Phe844=) c.2133+367T= (n.2133+367T=) c.1680-5836T= (n.1680-5836T=) c.2626T= (p.Phe876=) c.2692T= (p.Phe898=) c.2689T= (p.Phe897=) c.2662T= (p.Phe888=) c.2608T= (p.Phe870=) c.2581T= (p.Phe861=) c.2566T= (p.Phe856=) c.2173T= (p.Phe725=) c.2635T= (p.Phe879=) c.2572T= (p.Phe858=) c.2569T= (p.Phe857=) c.2527T= (p.Phe843=) c.1600T= (p.Phe534=) | |
| 20 | g.63406679A>C | CA409636452 | KCNQ2 | c.2638T>G (p.Phe880Val) c.2584T>G (p.Phe862Val) c.1981T>G (p.Phe661Val) c.2491T>G (p.Phe831Val) c.2152T>G (p.Phe718Val) c.2500T>G (p.Phe834Val) c.2241+367T>G (n.2241+367T>G) c.2205+367T>G (n.2205+367T>G) c.2530T>G (p.Phe844Val) c.2133+367T>G (n.2133+367T>G) c.1680-5836T>G (n.1680-5836T>G) c.2626T>G (p.Phe876Val) c.2692T>G (p.Phe898Val) c.2689T>G (p.Phe897Val) c.2662T>G (p.Phe888Val) c.2608T>G (p.Phe870Val) c.2581T>G (p.Phe861Val) c.2566T>G (p.Phe856Val) c.2173T>G (p.Phe725Val) c.2635T>G (p.Phe879Val) c.2572T>G (p.Phe858Val) c.2569T>G (p.Phe857Val) c.2527T>G (p.Phe843Val) c.1600T>G (p.Phe534Val) |