Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.63406665_63406669dupCA10654777KCNQ2c.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?)
 ClinVar dbSNP
20g.63406668delCA342495KCNQ2c.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
20g.63406667C>ACA409636401KCNQ2c.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
20g.63406667C>GCA409636403KCNQ2c.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)
20g.63406667C>TCA409636405KCNQ2c.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
20g.63406668C>ACA511339178KCNQ2c.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
20g.63406668C>GCA511339179KCNQ2c.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=)
20g.63406668C>TCA511339180KCNQ2c.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=)
20g.63406669A=CA2374774184KCNQ2c.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=)
20g.63406669A>CCA9958053KCNQ2c.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
20g.63406669A>GCA409636407KCNQ2c.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)
20g.63406669A>TCA409636408KCNQ2c.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)
20g.63406670C>ACA409636413KCNQ2c.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)
20g.63406670C=CA2374774185KCNQ2c.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=)
20g.63406670C>GCA409636410KCNQ2c.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
20g.63406670C>TCA317421518KCNQ2c.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
20g.63406671G>ACA9958054KCNQ2c.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
20g.63406671G>CCA409636417KCNQ2c.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)
20g.63406671G=CA2374774186KCNQ2c.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=)
20g.63406671G>TCA409636415KCNQ2c.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
20g.63406672T>ACA409636419KCNQ2c.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)
20g.63406672T>CCA409636421KCNQ2c.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)
20g.63406672T>GCA409636423KCNQ2c.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)
20g.63406673C>ACA409636425KCNQ2c.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
20g.63406673C>GCA409636426KCNQ2c.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)
20g.63406673C>TCA409636428KCNQ2c.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)
20g.63406674A>CCA511339181KCNQ2c.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=)
20g.63406674A>GCA511339182KCNQ2c.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=)
20g.63406674A>TCA511339183KCNQ2c.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=)
20g.63406675C>ACA409636430KCNQ2c.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)
20g.63406675C>GCA409636432KCNQ2c.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)
20g.63406675C>TCA409636434KCNQ2c.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)
20g.63406676C>ACA409636436KCNQ2c.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
20g.63406676C>GCA409636438KCNQ2c.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
20g.63406676C>TCA409636440KCNQ2c.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)
20g.63406677A=CA2374774187KCNQ2c.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=)
20g.63406677A>CCA409636444KCNQ2c.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)
20g.63406677A>GCA511339184KCNQ2c.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
20g.63406677A>TCA409636442KCNQ2c.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)
20g.63406679delCA2653804361KCNQ2c.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
20g.63406678A>CCA409636446KCNQ2c.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)
20g.63406678A>GCA409636448KCNQ2c.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)
20g.63406678A>TCA409636450KCNQ2c.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)
20g.63406679A=CA2374774188KCNQ2c.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=)
20g.63406679A>CCA409636452KCNQ2c.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)
20g.63406679A>GCA090955KCNQ2c.2638T>C (p.Phe880Leu)
c.2584T>C (p.Phe862Leu)
c.1981T>C (p.Phe661Leu)
c.2491T>C (p.Phe831Leu)
c.2152T>C (p.Phe718Leu)
c.2500T>C (p.Phe834Leu)
c.2241+367T>C (n.2241+367T>C)
c.2205+367T>C (n.2205+367T>C)
c.2530T>C (p.Phe844Leu)
c.2133+367T>C (n.2133+367T>C)
c.1680-5836T>C (n.1680-5836T>C)
c.2626T>C (p.Phe876Leu)
c.2692T>C (p.Phe898Leu)
c.2689T>C (p.Phe897Leu)
c.2662T>C (p.Phe888Leu)
c.2608T>C (p.Phe870Leu)
c.2581T>C (p.Phe861Leu)
c.2566T>C (p.Phe856Leu)
c.2173T>C (p.Phe725Leu)
c.2635T>C (p.Phe879Leu)
c.2572T>C (p.Phe858Leu)
c.2569T>C (p.Phe857Leu)
c.2527T>C (p.Phe843Leu)
c.1600T>C (p.Phe534Leu)
 ClinVar dbSNP gnomAD v4
20g.63406679A>TCA409636455KCNQ2c.2638T>A (p.Phe880Ile)
c.2584T>A (p.Phe862Ile)
c.1981T>A (p.Phe661Ile)
c.2491T>A (p.Phe831Ile)
c.2152T>A (p.Phe718Ile)
c.2500T>A (p.Phe834Ile)
c.2241+367T>A (n.2241+367T>A)
c.2205+367T>A (n.2205+367T>A)
c.2530T>A (p.Phe844Ile)
c.2133+367T>A (n.2133+367T>A)
c.1680-5836T>A (n.1680-5836T>A)
c.2626T>A (p.Phe876Ile)
c.2692T>A (p.Phe898Ile)
c.2689T>A (p.Phe897Ile)
c.2662T>A (p.Phe888Ile)
c.2608T>A (p.Phe870Ile)
c.2581T>A (p.Phe861Ile)
c.2566T>A (p.Phe856Ile)
c.2173T>A (p.Phe725Ile)
c.2635T>A (p.Phe879Ile)
c.2572T>A (p.Phe858Ile)
c.2569T>A (p.Phe857Ile)
c.2527T>A (p.Phe843Ile)
c.1600T>A (p.Phe534Ile)
20g.63406680G>ACA511339185KCNQ2c.2637C>T (p.Pro879=)
c.2583C>T (p.Pro861=)
c.1980C>T (p.Pro660=)
c.2490C>T (p.Pro830=)
c.2151C>T (p.Pro717=)
c.2499C>T (p.Pro833=)
c.2241+366C>T (n.2241+366C>T)
c.2205+366C>T (n.2205+366C>T)
c.2529C>T (p.Pro843=)
c.2133+366C>T (n.2133+366C>T)
c.1680-5837C>T (n.1680-5837C>T)
c.2625C>T (p.Pro875=)
c.2691C>T (p.Pro897=)
c.2688C>T (p.Pro896=)
c.2661C>T (p.Pro887=)
c.2607C>T (p.Pro869=)
c.2580C>T (p.Pro860=)
c.2565C>T (p.Pro855=)
c.2172C>T (p.Pro724=)
c.2634C>T (p.Pro878=)
c.2571C>T (p.Pro857=)
c.2568C>T (p.Pro856=)
c.2526C>T (p.Pro842=)
c.1599C>T (p.Pro533=)
20g.63406680G>CCA511339186KCNQ2c.2637C>G (p.Pro879=)
c.2583C>G (p.Pro861=)
c.1980C>G (p.Pro660=)
c.2490C>G (p.Pro830=)
c.2151C>G (p.Pro717=)
c.2499C>G (p.Pro833=)
c.2241+366C>G (n.2241+366C>G)
c.2205+366C>G (n.2205+366C>G)
c.2529C>G (p.Pro843=)
c.2133+366C>G (n.2133+366C>G)
c.1680-5837C>G (n.1680-5837C>G)
c.2625C>G (p.Pro875=)
c.2691C>G (p.Pro897=)
c.2688C>G (p.Pro896=)
c.2661C>G (p.Pro887=)
c.2607C>G (p.Pro869=)
c.2580C>G (p.Pro860=)
c.2565C>G (p.Pro855=)
c.2172C>G (p.Pro724=)
c.2634C>G (p.Pro878=)
c.2571C>G (p.Pro857=)
c.2568C>G (p.Pro856=)
c.2526C>G (p.Pro842=)
c.1599C>G (p.Pro533=)
 ClinVar
20g.63406680G=CA2374774189KCNQ2c.2637C= (p.Pro879=)
c.2583C= (p.Pro861=)
c.1980C= (p.Pro660=)
c.2490C= (p.Pro830=)
c.2151C= (p.Pro717=)
c.2499C= (p.Pro833=)
c.2241+366C= (n.2241+366C=)
c.2205+366C= (n.2205+366C=)
c.2529C= (p.Pro843=)
c.2133+366C= (n.2133+366C=)
c.1680-5837C= (n.1680-5837C=)
c.2625C= (p.Pro875=)
c.2691C= (p.Pro897=)
c.2688C= (p.Pro896=)
c.2661C= (p.Pro887=)
c.2607C= (p.Pro869=)
c.2580C= (p.Pro860=)
c.2565C= (p.Pro855=)
c.2172C= (p.Pro724=)
c.2634C= (p.Pro878=)
c.2571C= (p.Pro857=)
c.2568C= (p.Pro856=)
c.2526C= (p.Pro842=)
c.1599C= (p.Pro533=)
20g.63406680G>TCA511339187KCNQ2c.2637C>A (p.Pro879=)
c.2583C>A (p.Pro861=)
c.1980C>A (p.Pro660=)
c.2490C>A (p.Pro830=)
c.2151C>A (p.Pro717=)
c.2499C>A (p.Pro833=)
c.2241+366C>A (n.2241+366C>A)
c.2205+366C>A (n.2205+366C>A)
c.2529C>A (p.Pro843=)
c.2133+366C>A (n.2133+366C>A)
c.1680-5837C>A (n.1680-5837C>A)
c.2625C>A (p.Pro875=)
c.2691C>A (p.Pro897=)
c.2688C>A (p.Pro896=)
c.2661C>A (p.Pro887=)
c.2607C>A (p.Pro869=)
c.2580C>A (p.Pro860=)
c.2565C>A (p.Pro855=)
c.2172C>A (p.Pro724=)
c.2634C>A (p.Pro878=)
c.2571C>A (p.Pro857=)
c.2568C>A (p.Pro856=)
c.2526C>A (p.Pro842=)
c.1599C>A (p.Pro533=)
 ClinVar dbSNP gnomAD v4
20g.63406681G>ACA409636457KCNQ2c.2636C>T (p.Pro879Leu)
c.2582C>T (p.Pro861Leu)
c.1979C>T (p.Pro660Leu)
c.2489C>T (p.Pro830Leu)
c.2150C>T (p.Pro717Leu)
c.2498C>T (p.Pro833Leu)
c.2241+365C>T (n.2241+365C>T)
c.2205+365C>T (n.2205+365C>T)
c.2528C>T (p.Pro843Leu)
c.2133+365C>T (n.2133+365C>T)
c.1680-5838C>T (n.1680-5838C>T)
c.2624C>T (p.Pro875Leu)
c.2690C>T (p.Pro897Leu)
c.2687C>T (p.Pro896Leu)
c.2660C>T (p.Pro887Leu)
c.2606C>T (p.Pro869Leu)
c.2579C>T (p.Pro860Leu)
c.2564C>T (p.Pro855Leu)
c.2171C>T (p.Pro724Leu)
c.2633C>T (p.Pro878Leu)
c.2570C>T (p.Pro857Leu)
c.2567C>T (p.Pro856Leu)
c.2525C>T (p.Pro842Leu)
c.1598C>T (p.Pro533Leu)
 gnomAD v4
20g.63406681G>CCA409636460KCNQ2c.2636C>G (p.Pro879Arg)
c.2582C>G (p.Pro861Arg)
c.1979C>G (p.Pro660Arg)
c.2489C>G (p.Pro830Arg)
c.2150C>G (p.Pro717Arg)
c.2498C>G (p.Pro833Arg)
c.2241+365C>G (n.2241+365C>G)
c.2205+365C>G (n.2205+365C>G)
c.2528C>G (p.Pro843Arg)
c.2133+365C>G (n.2133+365C>G)
c.1680-5838C>G (n.1680-5838C>G)
c.2624C>G (p.Pro875Arg)
c.2690C>G (p.Pro897Arg)
c.2687C>G (p.Pro896Arg)
c.2660C>G (p.Pro887Arg)
c.2606C>G (p.Pro869Arg)
c.2579C>G (p.Pro860Arg)
c.2564C>G (p.Pro855Arg)
c.2171C>G (p.Pro724Arg)
c.2633C>G (p.Pro878Arg)
c.2570C>G (p.Pro857Arg)
c.2567C>G (p.Pro856Arg)
c.2525C>G (p.Pro842Arg)
c.1598C>G (p.Pro533Arg)
20g.63406681G>TCA409636462KCNQ2c.2636C>A (p.Pro879His)
c.2582C>A (p.Pro861His)
c.1979C>A (p.Pro660His)
c.2489C>A (p.Pro830His)
c.2150C>A (p.Pro717His)
c.2498C>A (p.Pro833His)
c.2241+365C>A (n.2241+365C>A)
c.2205+365C>A (n.2205+365C>A)
c.2528C>A (p.Pro843His)
c.2133+365C>A (n.2133+365C>A)
c.1680-5838C>A (n.1680-5838C>A)
c.2624C>A (p.Pro875His)
c.2690C>A (p.Pro897His)
c.2687C>A (p.Pro896His)
c.2660C>A (p.Pro887His)
c.2606C>A (p.Pro869His)
c.2579C>A (p.Pro860His)
c.2564C>A (p.Pro855His)
c.2171C>A (p.Pro724His)
c.2633C>A (p.Pro878His)
c.2570C>A (p.Pro857His)
c.2567C>A (p.Pro856His)
c.2525C>A (p.Pro842His)
c.1598C>A (p.Pro533His)
 gnomAD v4
20g.63406682G>ACA409636464KCNQ2c.2635C>T (p.Pro879Ser)
c.2581C>T (p.Pro861Ser)
c.1978C>T (p.Pro660Ser)
c.2488C>T (p.Pro830Ser)
c.2149C>T (p.Pro717Ser)
c.2497C>T (p.Pro833Ser)
c.2241+364C>T (n.2241+364C>T)
c.2205+364C>T (n.2205+364C>T)
c.2527C>T (p.Pro843Ser)
c.2133+364C>T (n.2133+364C>T)
c.1680-5839C>T (n.1680-5839C>T)
c.2623C>T (p.Pro875Ser)
c.2689C>T (p.Pro897Ser)
c.2686C>T (p.Pro896Ser)
c.2659C>T (p.Pro887Ser)
c.2605C>T (p.Pro869Ser)
c.2578C>T (p.Pro860Ser)
c.2563C>T (p.Pro855Ser)
c.2170C>T (p.Pro724Ser)
c.2632C>T (p.Pro878Ser)
c.2569C>T (p.Pro857Ser)
c.2566C>T (p.Pro856Ser)
c.2524C>T (p.Pro842Ser)
c.1597C>T (p.Pro533Ser)
 dbSNP gnomAD v4
20g.63406682G>CCA409636465KCNQ2c.2635C>G (p.Pro879Ala)
c.2581C>G (p.Pro861Ala)
c.1978C>G (p.Pro660Ala)
c.2488C>G (p.Pro830Ala)
c.2149C>G (p.Pro717Ala)
c.2497C>G (p.Pro833Ala)
c.2241+364C>G (n.2241+364C>G)
c.2205+364C>G (n.2205+364C>G)
c.2527C>G (p.Pro843Ala)
c.2133+364C>G (n.2133+364C>G)
c.1680-5839C>G (n.1680-5839C>G)
c.2623C>G (p.Pro875Ala)
c.2689C>G (p.Pro897Ala)
c.2686C>G (p.Pro896Ala)
c.2659C>G (p.Pro887Ala)
c.2605C>G (p.Pro869Ala)
c.2578C>G (p.Pro860Ala)
c.2563C>G (p.Pro855Ala)
c.2170C>G (p.Pro724Ala)
c.2632C>G (p.Pro878Ala)
c.2569C>G (p.Pro857Ala)
c.2566C>G (p.Pro856Ala)
c.2524C>G (p.Pro842Ala)
c.1597C>G (p.Pro533Ala)
20g.63406682G=CA2374774190KCNQ2c.2635C= (p.Pro879=)
c.2581C= (p.Pro861=)
c.1978C= (p.Pro660=)
c.2488C= (p.Pro830=)
c.2149C= (p.Pro717=)
c.2497C= (p.Pro833=)
c.2241+364C= (n.2241+364C=)
c.2205+364C= (n.2205+364C=)
c.2527C= (p.Pro843=)
c.2133+364C= (n.2133+364C=)
c.1680-5839C= (n.1680-5839C=)
c.2623C= (p.Pro875=)
c.2689C= (p.Pro897=)
c.2686C= (p.Pro896=)
c.2659C= (p.Pro887=)
c.2605C= (p.Pro869=)
c.2578C= (p.Pro860=)
c.2563C= (p.Pro855=)
c.2170C= (p.Pro724=)
c.2632C= (p.Pro878=)
c.2569C= (p.Pro857=)
c.2566C= (p.Pro856=)
c.2524C= (p.Pro842=)
c.1597C= (p.Pro533=)
20g.63406682G>TCA409636466KCNQ2c.2635C>A (p.Pro879Thr)
c.2581C>A (p.Pro861Thr)
c.1978C>A (p.Pro660Thr)
c.2488C>A (p.Pro830Thr)
c.2149C>A (p.Pro717Thr)
c.2497C>A (p.Pro833Thr)
c.2241+364C>A (n.2241+364C>A)
c.2205+364C>A (n.2205+364C>A)
c.2527C>A (p.Pro843Thr)
c.2133+364C>A (n.2133+364C>A)
c.1680-5839C>A (n.1680-5839C>A)
c.2623C>A (p.Pro875Thr)
c.2689C>A (p.Pro897Thr)
c.2686C>A (p.Pro896Thr)
c.2659C>A (p.Pro887Thr)
c.2605C>A (p.Pro869Thr)
c.2578C>A (p.Pro860Thr)
c.2563C>A (p.Pro855Thr)
c.2170C>A (p.Pro724Thr)
c.2632C>A (p.Pro878Thr)
c.2569C>A (p.Pro857Thr)
c.2566C>A (p.Pro856Thr)
c.2524C>A (p.Pro842Thr)
c.1597C>A (p.Pro533Thr)
 gnomAD v4
20g.63406683A>CCA511339188KCNQ2c.2634T>G (p.Gly878=)
c.2580T>G (p.Gly860=)
c.1977T>G (p.Gly659=)
c.2487T>G (p.Gly829=)
c.2148T>G (p.Gly716=)
c.2496T>G (p.Gly832=)
c.2241+363T>G (n.2241+363T>G)
c.2205+363T>G (n.2205+363T>G)
c.2526T>G (p.Gly842=)
c.2133+363T>G (n.2133+363T>G)
c.1680-5840T>G (n.1680-5840T>G)
c.2622T>G (p.Gly874=)
c.2688T>G (p.Gly896=)
c.2685T>G (p.Gly895=)
c.2658T>G (p.Gly886=)
c.2604T>G (p.Gly868=)
c.2577T>G (p.Gly859=)
c.2562T>G (p.Gly854=)
c.2169T>G (p.Gly723=)
c.2631T>G (p.Gly877=)
c.2568T>G (p.Gly856=)
c.2565T>G (p.Gly855=)
c.2523T>G (p.Gly841=)
c.1596T>G (p.Gly532=)
20g.63406683A>GCA511339189KCNQ2c.2634T>C (p.Gly878=)
c.2580T>C (p.Gly860=)
c.1977T>C (p.Gly659=)
c.2487T>C (p.Gly829=)
c.2148T>C (p.Gly716=)
c.2496T>C (p.Gly832=)
c.2241+363T>C (n.2241+363T>C)
c.2205+363T>C (n.2205+363T>C)
c.2526T>C (p.Gly842=)
c.2133+363T>C (n.2133+363T>C)
c.1680-5840T>C (n.1680-5840T>C)
c.2622T>C (p.Gly874=)
c.2688T>C (p.Gly896=)
c.2685T>C (p.Gly895=)
c.2658T>C (p.Gly886=)
c.2604T>C (p.Gly868=)
c.2577T>C (p.Gly859=)
c.2562T>C (p.Gly854=)
c.2169T>C (p.Gly723=)
c.2631T>C (p.Gly877=)
c.2568T>C (p.Gly856=)
c.2565T>C (p.Gly855=)
c.2523T>C (p.Gly841=)
c.1596T>C (p.Gly532=)
 gnomAD v4
20g.63406683A>TCA511339190KCNQ2c.2634T>A (p.Gly878=)
c.2580T>A (p.Gly860=)
c.1977T>A (p.Gly659=)
c.2487T>A (p.Gly829=)
c.2148T>A (p.Gly716=)
c.2496T>A (p.Gly832=)
c.2241+363T>A (n.2241+363T>A)
c.2205+363T>A (n.2205+363T>A)
c.2526T>A (p.Gly842=)
c.2133+363T>A (n.2133+363T>A)
c.1680-5840T>A (n.1680-5840T>A)
c.2622T>A (p.Gly874=)
c.2688T>A (p.Gly896=)
c.2685T>A (p.Gly895=)
c.2658T>A (p.Gly886=)
c.2604T>A (p.Gly868=)
c.2577T>A (p.Gly859=)
c.2562T>A (p.Gly854=)
c.2169T>A (p.Gly723=)
c.2631T>A (p.Gly877=)
c.2568T>A (p.Gly856=)
c.2565T>A (p.Gly855=)
c.2523T>A (p.Gly841=)
c.1596T>A (p.Gly532=)
20g.63406684C>ACA409636471KCNQ2c.2633G>T (p.Gly878Val)
c.2579G>T (p.Gly860Val)
c.1976G>T (p.Gly659Val)
c.2486G>T (p.Gly829Val)
c.2147G>T (p.Gly716Val)
c.2495G>T (p.Gly832Val)
c.2241+362G>T (n.2241+362G>T)
c.2205+362G>T (n.2205+362G>T)
c.2525G>T (p.Gly842Val)
c.2133+362G>T (n.2133+362G>T)
c.1680-5841G>T (n.1680-5841G>T)
c.2621G>T (p.Gly874Val)
c.2687G>T (p.Gly896Val)
c.2684G>T (p.Gly895Val)
c.2657G>T (p.Gly886Val)
c.2603G>T (p.Gly868Val)
c.2576G>T (p.Gly859Val)
c.2561G>T (p.Gly854Val)
c.2168G>T (p.Gly723Val)
c.2630G>T (p.Gly877Val)
c.2567G>T (p.Gly856Val)
c.2564G>T (p.Gly855Val)
c.2522G>T (p.Gly841Val)
c.1595G>T (p.Gly532Val)
 dbSNP gnomAD v2 gnomAD v4
20g.63406684C=CA2374774191KCNQ2c.2633G= (p.Gly878=)
c.2579G= (p.Gly860=)
c.1976G= (p.Gly659=)
c.2486G= (p.Gly829=)
c.2147G= (p.Gly716=)
c.2495G= (p.Gly832=)
c.2241+362G= (n.2241+362G=)
c.2205+362G= (n.2205+362G=)
c.2525G= (p.Gly842=)
c.2133+362G= (n.2133+362G=)
c.1680-5841G= (n.1680-5841G=)
c.2621G= (p.Gly874=)
c.2687G= (p.Gly896=)
c.2684G= (p.Gly895=)
c.2657G= (p.Gly886=)
c.2603G= (p.Gly868=)
c.2576G= (p.Gly859=)
c.2561G= (p.Gly854=)
c.2168G= (p.Gly723=)
c.2630G= (p.Gly877=)
c.2567G= (p.Gly856=)
c.2564G= (p.Gly855=)
c.2522G= (p.Gly841=)
c.1595G= (p.Gly532=)
20g.63406684C>GCA409636469KCNQ2c.2633G>C (p.Gly878Ala)
c.2579G>C (p.Gly860Ala)
c.1976G>C (p.Gly659Ala)
c.2486G>C (p.Gly829Ala)
c.2147G>C (p.Gly716Ala)
c.2495G>C (p.Gly832Ala)
c.2241+362G>C (n.2241+362G>C)
c.2205+362G>C (n.2205+362G>C)
c.2525G>C (p.Gly842Ala)
c.2133+362G>C (n.2133+362G>C)
c.1680-5841G>C (n.1680-5841G>C)
c.2621G>C (p.Gly874Ala)
c.2687G>C (p.Gly896Ala)
c.2684G>C (p.Gly895Ala)
c.2657G>C (p.Gly886Ala)
c.2603G>C (p.Gly868Ala)
c.2576G>C (p.Gly859Ala)
c.2561G>C (p.Gly854Ala)
c.2168G>C (p.Gly723Ala)
c.2630G>C (p.Gly877Ala)
c.2567G>C (p.Gly856Ala)
c.2564G>C (p.Gly855Ala)
c.2522G>C (p.Gly841Ala)
c.1595G>C (p.Gly532Ala)
20g.63406684C>TCA409636468KCNQ2c.2633G>A (p.Gly878Asp)
c.2579G>A (p.Gly860Asp)
c.1976G>A (p.Gly659Asp)
c.2486G>A (p.Gly829Asp)
c.2147G>A (p.Gly716Asp)
c.2495G>A (p.Gly832Asp)
c.2241+362G>A (n.2241+362G>A)
c.2205+362G>A (n.2205+362G>A)
c.2525G>A (p.Gly842Asp)
c.2133+362G>A (n.2133+362G>A)
c.1680-5841G>A (n.1680-5841G>A)
c.2621G>A (p.Gly874Asp)
c.2687G>A (p.Gly896Asp)
c.2684G>A (p.Gly895Asp)
c.2657G>A (p.Gly886Asp)
c.2603G>A (p.Gly868Asp)
c.2576G>A (p.Gly859Asp)
c.2561G>A (p.Gly854Asp)
c.2168G>A (p.Gly723Asp)
c.2630G>A (p.Gly877Asp)
c.2567G>A (p.Gly856Asp)
c.2564G>A (p.Gly855Asp)
c.2522G>A (p.Gly841Asp)
c.1595G>A (p.Gly532Asp)
20g.63406685C>ACA409636473KCNQ2c.2632G>T (p.Gly878Cys)
c.2578G>T (p.Gly860Cys)
c.1975G>T (p.Gly659Cys)
c.2485G>T (p.Gly829Cys)
c.2146G>T (p.Gly716Cys)
c.2494G>T (p.Gly832Cys)
c.2241+361G>T (n.2241+361G>T)
c.2205+361G>T (n.2205+361G>T)
c.2524G>T (p.Gly842Cys)
c.2133+361G>T (n.2133+361G>T)
c.1680-5842G>T (n.1680-5842G>T)
c.2620G>T (p.Gly874Cys)
c.2686G>T (p.Gly896Cys)
c.2683G>T (p.Gly895Cys)
c.2656G>T (p.Gly886Cys)
c.2602G>T (p.Gly868Cys)
c.2575G>T (p.Gly859Cys)
c.2560G>T (p.Gly854Cys)
c.2167G>T (p.Gly723Cys)
c.2629G>T (p.Gly877Cys)
c.2566G>T (p.Gly856Cys)
c.2563G>T (p.Gly855Cys)
c.2521G>T (p.Gly841Cys)
c.1594G>T (p.Gly532Cys)
 gnomAD v4
20g.63406685C>GCA409636475KCNQ2c.2632G>C (p.Gly878Arg)
c.2578G>C (p.Gly860Arg)
c.1975G>C (p.Gly659Arg)
c.2485G>C (p.Gly829Arg)
c.2146G>C (p.Gly716Arg)
c.2494G>C (p.Gly832Arg)
c.2241+361G>C (n.2241+361G>C)
c.2205+361G>C (n.2205+361G>C)
c.2524G>C (p.Gly842Arg)
c.2133+361G>C (n.2133+361G>C)
c.1680-5842G>C (n.1680-5842G>C)
c.2620G>C (p.Gly874Arg)
c.2686G>C (p.Gly896Arg)
c.2683G>C (p.Gly895Arg)
c.2656G>C (p.Gly886Arg)
c.2602G>C (p.Gly868Arg)
c.2575G>C (p.Gly859Arg)
c.2560G>C (p.Gly854Arg)
c.2167G>C (p.Gly723Arg)
c.2629G>C (p.Gly877Arg)
c.2566G>C (p.Gly856Arg)
c.2563G>C (p.Gly855Arg)
c.2521G>C (p.Gly841Arg)
c.1594G>C (p.Gly532Arg)
 ClinVar
20g.63406685C>TCA409636477KCNQ2c.2632G>A (p.Gly878Ser)
c.2578G>A (p.Gly860Ser)
c.1975G>A (p.Gly659Ser)
c.2485G>A (p.Gly829Ser)
c.2146G>A (p.Gly716Ser)
c.2494G>A (p.Gly832Ser)
c.2241+361G>A (n.2241+361G>A)
c.2205+361G>A (n.2205+361G>A)
c.2524G>A (p.Gly842Ser)
c.2133+361G>A (n.2133+361G>A)
c.1680-5842G>A (n.1680-5842G>A)
c.2620G>A (p.Gly874Ser)
c.2686G>A (p.Gly896Ser)
c.2683G>A (p.Gly895Ser)
c.2656G>A (p.Gly886Ser)
c.2602G>A (p.Gly868Ser)
c.2575G>A (p.Gly859Ser)
c.2560G>A (p.Gly854Ser)
c.2167G>A (p.Gly723Ser)
c.2629G>A (p.Gly877Ser)
c.2566G>A (p.Gly856Ser)
c.2563G>A (p.Gly855Ser)
c.2521G>A (p.Gly841Ser)
c.1594G>A (p.Gly532Ser)
 gnomAD v4 COSMIC COSMIC COSMIC
20g.63406686C>ACA409636479KCNQ2c.2631G>T (p.Glu877Asp)
c.2577G>T (p.Glu859Asp)
c.1974G>T (p.Glu658Asp)
c.2484G>T (p.Glu828Asp)
c.2145G>T (p.Glu715Asp)
c.2493G>T (p.Glu831Asp)
c.2241+360G>T (n.2241+360G>T)
c.2205+360G>T (n.2205+360G>T)
c.2523G>T (p.Glu841Asp)
c.2133+360G>T (n.2133+360G>T)
c.1680-5843G>T (n.1680-5843G>T)
c.2619G>T (p.Glu873Asp)
c.2685G>T (p.Glu895Asp)
c.2682G>T (p.Glu894Asp)
c.2655G>T (p.Glu885Asp)
c.2601G>T (p.Glu867Asp)
c.2574G>T (p.Glu858Asp)
c.2559G>T (p.Glu853Asp)
c.2166G>T (p.Glu722Asp)
c.2628G>T (p.Glu876Asp)
c.2565G>T (p.Glu855Asp)
c.2562G>T (p.Glu854Asp)
c.2520G>T (p.Glu840Asp)
c.1593G>T (p.Glu531Asp)
 gnomAD v4
20g.63406686C=CA2374774192KCNQ2c.2631G= (p.Glu877=)
c.2577G= (p.Glu859=)
c.1974G= (p.Glu658=)
c.2484G= (p.Glu828=)
c.2145G= (p.Glu715=)
c.2493G= (p.Glu831=)
c.2241+360G= (n.2241+360G=)
c.2205+360G= (n.2205+360G=)
c.2523G= (p.Glu841=)
c.2133+360G= (n.2133+360G=)
c.1680-5843G= (n.1680-5843G=)
c.2619G= (p.Glu873=)
c.2685G= (p.Glu895=)
c.2682G= (p.Glu894=)
c.2655G= (p.Glu885=)
c.2601G= (p.Glu867=)
c.2574G= (p.Glu858=)
c.2559G= (p.Glu853=)
c.2166G= (p.Glu722=)
c.2628G= (p.Glu876=)
c.2565G= (p.Glu855=)
c.2562G= (p.Glu854=)
c.2520G= (p.Glu840=)
c.1593G= (p.Glu531=)
20g.63406686C>GCA409636481KCNQ2c.2631G>C (p.Glu877Asp)
c.2577G>C (p.Glu859Asp)
c.1974G>C (p.Glu658Asp)
c.2484G>C (p.Glu828Asp)
c.2145G>C (p.Glu715Asp)
c.2493G>C (p.Glu831Asp)
c.2241+360G>C (n.2241+360G>C)
c.2205+360G>C (n.2205+360G>C)
c.2523G>C (p.Glu841Asp)
c.2133+360G>C (n.2133+360G>C)
c.1680-5843G>C (n.1680-5843G>C)
c.2619G>C (p.Glu873Asp)
c.2685G>C (p.Glu895Asp)
c.2682G>C (p.Glu894Asp)
c.2655G>C (p.Glu885Asp)
c.2601G>C (p.Glu867Asp)
c.2574G>C (p.Glu858Asp)
c.2559G>C (p.Glu853Asp)
c.2166G>C (p.Glu722Asp)
c.2628G>C (p.Glu876Asp)
c.2565G>C (p.Glu855Asp)
c.2562G>C (p.Glu854Asp)
c.2520G>C (p.Glu840Asp)
c.1593G>C (p.Glu531Asp)
 gnomAD v4
20g.63406686C>TCA511339191KCNQ2c.2631G>A (p.Glu877=)
c.2577G>A (p.Glu859=)
c.1974G>A (p.Glu658=)
c.2484G>A (p.Glu828=)
c.2145G>A (p.Glu715=)
c.2493G>A (p.Glu831=)
c.2241+360G>A (n.2241+360G>A)
c.2205+360G>A (n.2205+360G>A)
c.2523G>A (p.Glu841=)
c.2133+360G>A (n.2133+360G>A)
c.1680-5843G>A (n.1680-5843G>A)
c.2619G>A (p.Glu873=)
c.2685G>A (p.Glu895=)
c.2682G>A (p.Glu894=)
c.2655G>A (p.Glu885=)
c.2601G>A (p.Glu867=)
c.2574G>A (p.Glu858=)
c.2559G>A (p.Glu853=)
c.2166G>A (p.Glu722=)
c.2628G>A (p.Glu876=)
c.2565G>A (p.Glu855=)
c.2562G>A (p.Glu854=)
c.2520G>A (p.Glu840=)
c.1593G>A (p.Glu531=)
 ClinVar dbSNP
20g.63406687T>ACA317421522KCNQ2c.2630A>T (p.Glu877Val)
c.2576A>T (p.Glu859Val)
c.1973A>T (p.Glu658Val)
c.2483A>T (p.Glu828Val)
c.2144A>T (p.Glu715Val)
c.2492A>T (p.Glu831Val)
c.2241+359A>T (n.2241+359A>T)
c.2205+359A>T (n.2205+359A>T)
c.2522A>T (p.Glu841Val)
c.2133+359A>T (n.2133+359A>T)
c.1680-5844A>T (n.1680-5844A>T)
c.2618A>T (p.Glu873Val)
c.2684A>T (p.Glu895Val)
c.2681A>T (p.Glu894Val)
c.2654A>T (p.Glu885Val)
c.2600A>T (p.Glu867Val)
c.2573A>T (p.Glu858Val)
c.2558A>T (p.Glu853Val)
c.2165A>T (p.Glu722Val)
c.2627A>T (p.Glu876Val)
c.2564A>T (p.Glu855Val)
c.2561A>T (p.Glu854Val)
c.2519A>T (p.Glu840Val)
c.1592A>T (p.Glu531Val)
 dbSNP
20g.63406687T>CCA409636484KCNQ2c.2630A>G (p.Glu877Gly)
c.2576A>G (p.Glu859Gly)
c.1973A>G (p.Glu658Gly)
c.2483A>G (p.Glu828Gly)
c.2144A>G (p.Glu715Gly)
c.2492A>G (p.Glu831Gly)
c.2241+359A>G (n.2241+359A>G)
c.2205+359A>G (n.2205+359A>G)
c.2522A>G (p.Glu841Gly)
c.2133+359A>G (n.2133+359A>G)
c.1680-5844A>G (n.1680-5844A>G)
c.2618A>G (p.Glu873Gly)
c.2684A>G (p.Glu895Gly)
c.2681A>G (p.Glu894Gly)
c.2654A>G (p.Glu885Gly)
c.2600A>G (p.Glu867Gly)
c.2573A>G (p.Glu858Gly)
c.2558A>G (p.Glu853Gly)
c.2165A>G (p.Glu722Gly)
c.2627A>G (p.Glu876Gly)
c.2564A>G (p.Glu855Gly)
c.2561A>G (p.Glu854Gly)
c.2519A>G (p.Glu840Gly)
c.1592A>G (p.Glu531Gly)
20g.63406687T>GCA409636486KCNQ2c.2630A>C (p.Glu877Ala)
c.2576A>C (p.Glu859Ala)
c.1973A>C (p.Glu658Ala)
c.2483A>C (p.Glu828Ala)
c.2144A>C (p.Glu715Ala)
c.2492A>C (p.Glu831Ala)
c.2241+359A>C (n.2241+359A>C)
c.2205+359A>C (n.2205+359A>C)
c.2522A>C (p.Glu841Ala)
c.2133+359A>C (n.2133+359A>C)
c.1680-5844A>C (n.1680-5844A>C)
c.2618A>C (p.Glu873Ala)
c.2684A>C (p.Glu895Ala)
c.2681A>C (p.Glu894Ala)
c.2654A>C (p.Glu885Ala)
c.2600A>C (p.Glu867Ala)
c.2573A>C (p.Glu858Ala)
c.2558A>C (p.Glu853Ala)
c.2165A>C (p.Glu722Ala)
c.2627A>C (p.Glu876Ala)
c.2564A>C (p.Glu855Ala)
c.2561A>C (p.Glu854Ala)
c.2519A>C (p.Glu840Ala)
c.1592A>C (p.Glu531Ala)
20g.63406687T=CA2374774193KCNQ2c.2630A= (p.Glu877=)
c.2576A= (p.Glu859=)
c.1973A= (p.Glu658=)
c.2483A= (p.Glu828=)
c.2144A= (p.Glu715=)
c.2492A= (p.Glu831=)
c.2241+359A= (n.2241+359A=)
c.2205+359A= (n.2205+359A=)
c.2522A= (p.Glu841=)
c.2133+359A= (n.2133+359A=)
c.1680-5844A= (n.1680-5844A=)
c.2618A= (p.Glu873=)
c.2684A= (p.Glu895=)
c.2681A= (p.Glu894=)
c.2654A= (p.Glu885=)
c.2600A= (p.Glu867=)
c.2573A= (p.Glu858=)
c.2558A= (p.Glu853=)
c.2165A= (p.Glu722=)
c.2627A= (p.Glu876=)
c.2564A= (p.Glu855=)
c.2561A= (p.Glu854=)
c.2519A= (p.Glu840=)
c.1592A= (p.Glu531=)
20g.63406688C>ACA409636489KCNQ2c.2629G>T (p.Glu877Ter)
c.2575G>T (p.Glu859Ter)
c.1972G>T (p.Glu658Ter)
c.2482G>T (p.Glu828Ter)
c.2143G>T (p.Glu715Ter)
c.2491G>T (p.Glu831Ter)
c.2241+358G>T (n.2241+358G>T)
c.2205+358G>T (n.2205+358G>T)
c.2521G>T (p.Glu841Ter)
c.2133+358G>T (n.2133+358G>T)
c.1680-5845G>T (n.1680-5845G>T)
c.2617G>T (p.Glu873Ter)
c.2683G>T (p.Glu895Ter)
c.2680G>T (p.Glu894Ter)
c.2653G>T (p.Glu885Ter)
c.2599G>T (p.Glu867Ter)
c.2572G>T (p.Glu858Ter)
c.2557G>T (p.Glu853Ter)
c.2164G>T (p.Glu722Ter)
c.2626G>T (p.Glu876Ter)
c.2563G>T (p.Glu855Ter)
c.2560G>T (p.Glu854Ter)
c.2518G>T (p.Glu840Ter)
c.1591G>T (p.Glu531Ter)
 gnomAD v4
20g.63406688C>GCA409636490KCNQ2c.2629G>C (p.Glu877Gln)
c.2575G>C (p.Glu859Gln)
c.1972G>C (p.Glu658Gln)
c.2482G>C (p.Glu828Gln)
c.2143G>C (p.Glu715Gln)
c.2491G>C (p.Glu831Gln)
c.2241+358G>C (n.2241+358G>C)
c.2205+358G>C (n.2205+358G>C)
c.2521G>C (p.Glu841Gln)
c.2133+358G>C (n.2133+358G>C)
c.1680-5845G>C (n.1680-5845G>C)
c.2617G>C (p.Glu873Gln)
c.2683G>C (p.Glu895Gln)
c.2680G>C (p.Glu894Gln)
c.2653G>C (p.Glu885Gln)
c.2599G>C (p.Glu867Gln)
c.2572G>C (p.Glu858Gln)
c.2557G>C (p.Glu853Gln)
c.2164G>C (p.Glu722Gln)
c.2626G>C (p.Glu876Gln)
c.2563G>C (p.Glu855Gln)
c.2560G>C (p.Glu854Gln)
c.2518G>C (p.Glu840Gln)
c.1591G>C (p.Glu531Gln)
20g.63406688C>TCA409636491KCNQ2c.2629G>A (p.Glu877Lys)
c.2575G>A (p.Glu859Lys)
c.1972G>A (p.Glu658Lys)
c.2482G>A (p.Glu828Lys)
c.2143G>A (p.Glu715Lys)
c.2491G>A (p.Glu831Lys)
c.2241+358G>A (n.2241+358G>A)
c.2205+358G>A (n.2205+358G>A)
c.2521G>A (p.Glu841Lys)
c.2133+358G>A (n.2133+358G>A)
c.1680-5845G>A (n.1680-5845G>A)
c.2617G>A (p.Glu873Lys)
c.2683G>A (p.Glu895Lys)
c.2680G>A (p.Glu894Lys)
c.2653G>A (p.Glu885Lys)
c.2599G>A (p.Glu867Lys)
c.2572G>A (p.Glu858Lys)
c.2557G>A (p.Glu853Lys)
c.2164G>A (p.Glu722Lys)
c.2626G>A (p.Glu876Lys)
c.2563G>A (p.Glu855Lys)
c.2560G>A (p.Glu854Lys)
c.2518G>A (p.Glu840Lys)
c.1591G>A (p.Glu531Lys)
 ClinVar gnomAD v4
20g.63406689G>ACA9958055KCNQ2c.2628C>T (p.Gly876=)
c.2574C>T (p.Gly858=)
c.1971C>T (p.Gly657=)
c.2481C>T (p.Gly827=)
c.2142C>T (p.Gly714=)
c.2490C>T (p.Gly830=)
c.2241+357C>T (n.2241+357C>T)
c.2205+357C>T (n.2205+357C>T)
c.2520C>T (p.Gly840=)
c.2133+357C>T (n.2133+357C>T)
c.1680-5846C>T (n.1680-5846C>T)
c.2616C>T (p.Gly872=)
c.2682C>T (p.Gly894=)
c.2679C>T (p.Gly893=)
c.2652C>T (p.Gly884=)
c.2598C>T (p.Gly866=)
c.2571C>T (p.Gly857=)
c.2556C>T (p.Gly852=)
c.2163C>T (p.Gly721=)
c.2625C>T (p.Gly875=)
c.2562C>T (p.Gly854=)
c.2559C>T (p.Gly853=)
c.2517C>T (p.Gly839=)
c.1590C>T (p.Gly530=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406689G>CCA511339192KCNQ2c.2628C>G (p.Gly876=)
c.2574C>G (p.Gly858=)
c.1971C>G (p.Gly657=)
c.2481C>G (p.Gly827=)
c.2142C>G (p.Gly714=)
c.2490C>G (p.Gly830=)
c.2241+357C>G (n.2241+357C>G)
c.2205+357C>G (n.2205+357C>G)
c.2520C>G (p.Gly840=)
c.2133+357C>G (n.2133+357C>G)
c.1680-5846C>G (n.1680-5846C>G)
c.2616C>G (p.Gly872=)
c.2682C>G (p.Gly894=)
c.2679C>G (p.Gly893=)
c.2652C>G (p.Gly884=)
c.2598C>G (p.Gly866=)
c.2571C>G (p.Gly857=)
c.2556C>G (p.Gly852=)
c.2163C>G (p.Gly721=)
c.2625C>G (p.Gly875=)
c.2562C>G (p.Gly854=)
c.2559C>G (p.Gly853=)
c.2517C>G (p.Gly839=)
c.1590C>G (p.Gly530=)
20g.63406689G=CA2374774194KCNQ2c.2628C= (p.Gly876=)
c.2574C= (p.Gly858=)
c.1971C= (p.Gly657=)
c.2481C= (p.Gly827=)
c.2142C= (p.Gly714=)
c.2490C= (p.Gly830=)
c.2241+357C= (n.2241+357C=)
c.2205+357C= (n.2205+357C=)
c.2520C= (p.Gly840=)
c.2133+357C= (n.2133+357C=)
c.1680-5846C= (n.1680-5846C=)
c.2616C= (p.Gly872=)
c.2682C= (p.Gly894=)
c.2679C= (p.Gly893=)
c.2652C= (p.Gly884=)
c.2598C= (p.Gly866=)
c.2571C= (p.Gly857=)
c.2556C= (p.Gly852=)
c.2163C= (p.Gly721=)
c.2625C= (p.Gly875=)
c.2562C= (p.Gly854=)
c.2559C= (p.Gly853=)
c.2517C= (p.Gly839=)
c.1590C= (p.Gly530=)
20g.63406689G>TCA511339193KCNQ2c.2628C>A (p.Gly876=)
c.2574C>A (p.Gly858=)
c.1971C>A (p.Gly657=)
c.2481C>A (p.Gly827=)
c.2142C>A (p.Gly714=)
c.2490C>A (p.Gly830=)
c.2241+357C>A (n.2241+357C>A)
c.2205+357C>A (n.2205+357C>A)
c.2520C>A (p.Gly840=)
c.2133+357C>A (n.2133+357C>A)
c.1680-5846C>A (n.1680-5846C>A)
c.2616C>A (p.Gly872=)
c.2682C>A (p.Gly894=)
c.2679C>A (p.Gly893=)
c.2652C>A (p.Gly884=)
c.2598C>A (p.Gly866=)
c.2571C>A (p.Gly857=)
c.2556C>A (p.Gly852=)
c.2163C>A (p.Gly721=)
c.2625C>A (p.Gly875=)
c.2562C>A (p.Gly854=)
c.2559C>A (p.Gly853=)
c.2517C>A (p.Gly839=)
c.1590C>A (p.Gly530=)
20g.63406693_63406699delCA2499225797KCNQ2c.2622_2628del (p.Thr875ArgfsTer?)
c.2568_2574del (p.Thr857ArgfsTer?)
c.1965_1971del (p.Thr656ArgfsTer?)
c.2475_2481del (p.Thr826ArgfsTer?)
c.2136_2142del (p.Thr713ArgfsTer?)
c.2484_2490del (p.Thr829ArgfsTer?)
c.2241+351_2241+357del (n.2241+351_2241+357del)
c.2205+351_2205+357del (n.2205+351_2205+357del)
c.2514_2520del (p.Thr839ArgfsTer?)
c.2133+351_2133+357del (n.2133+351_2133+357del)
c.1680-5852_1680-5846del (n.1680-5852_1680-5846del)
c.2610_2616del (p.Thr871ArgfsTer?)
c.2676_2682del (p.Thr893ArgfsTer?)
c.2673_2679del (p.Thr892ArgfsTer?)
c.2646_2652del (p.Thr883ArgfsTer?)
c.2592_2598del (p.Thr865ArgfsTer?)
c.2565_2571del (p.Thr856ArgfsTer?)
c.2550_2556del (p.Thr851ArgfsTer?)
c.2157_2163del (p.Thr720ArgfsTer?)
c.2619_2625del (p.Thr874ArgfsTer?)
c.2556_2562del (p.Thr853ArgfsTer?)
c.2553_2559del (p.Thr852ArgfsTer?)
c.2511_2517del (p.Thr838ArgfsTer?)
c.1584_1590del (p.Thr529ArgfsTer?)
 ClinVar dbSNP
20g.63406690C>ACA409636498KCNQ2c.2627G>T (p.Gly876Val)
c.2573G>T (p.Gly858Val)
c.1970G>T (p.Gly657Val)
c.2480G>T (p.Gly827Val)
c.2141G>T (p.Gly714Val)
c.2489G>T (p.Gly830Val)
c.2241+356G>T (n.2241+356G>T)
c.2205+356G>T (n.2205+356G>T)
c.2519G>T (p.Gly840Val)
c.2133+356G>T (n.2133+356G>T)
c.1680-5847G>T (n.1680-5847G>T)
c.2615G>T (p.Gly872Val)
c.2681G>T (p.Gly894Val)
c.2678G>T (p.Gly893Val)
c.2651G>T (p.Gly884Val)
c.2597G>T (p.Gly866Val)
c.2570G>T (p.Gly857Val)
c.2555G>T (p.Gly852Val)
c.2162G>T (p.Gly721Val)
c.2624G>T (p.Gly875Val)
c.2561G>T (p.Gly854Val)
c.2558G>T (p.Gly853Val)
c.2516G>T (p.Gly839Val)
c.1589G>T (p.Gly530Val)
20g.63406690C>GCA409636496KCNQ2c.2627G>C (p.Gly876Ala)
c.2573G>C (p.Gly858Ala)
c.1970G>C (p.Gly657Ala)
c.2480G>C (p.Gly827Ala)
c.2141G>C (p.Gly714Ala)
c.2489G>C (p.Gly830Ala)
c.2241+356G>C (n.2241+356G>C)
c.2205+356G>C (n.2205+356G>C)
c.2519G>C (p.Gly840Ala)
c.2133+356G>C (n.2133+356G>C)
c.1680-5847G>C (n.1680-5847G>C)
c.2615G>C (p.Gly872Ala)
c.2681G>C (p.Gly894Ala)
c.2678G>C (p.Gly893Ala)
c.2651G>C (p.Gly884Ala)
c.2597G>C (p.Gly866Ala)
c.2570G>C (p.Gly857Ala)
c.2555G>C (p.Gly852Ala)
c.2162G>C (p.Gly721Ala)
c.2624G>C (p.Gly875Ala)
c.2561G>C (p.Gly854Ala)
c.2558G>C (p.Gly853Ala)
c.2516G>C (p.Gly839Ala)
c.1589G>C (p.Gly530Ala)
20g.63406690C>TCA409636494KCNQ2c.2627G>A (p.Gly876Asp)
c.2573G>A (p.Gly858Asp)
c.1970G>A (p.Gly657Asp)
c.2480G>A (p.Gly827Asp)
c.2141G>A (p.Gly714Asp)
c.2489G>A (p.Gly830Asp)
c.2241+356G>A (n.2241+356G>A)
c.2205+356G>A (n.2205+356G>A)
c.2519G>A (p.Gly840Asp)
c.2133+356G>A (n.2133+356G>A)
c.1680-5847G>A (n.1680-5847G>A)
c.2615G>A (p.Gly872Asp)
c.2681G>A (p.Gly894Asp)
c.2678G>A (p.Gly893Asp)
c.2651G>A (p.Gly884Asp)
c.2597G>A (p.Gly866Asp)
c.2570G>A (p.Gly857Asp)
c.2555G>A (p.Gly852Asp)
c.2162G>A (p.Gly721Asp)
c.2624G>A (p.Gly875Asp)
c.2561G>A (p.Gly854Asp)
c.2558G>A (p.Gly853Asp)
c.2516G>A (p.Gly839Asp)
c.1589G>A (p.Gly530Asp)
20g.63406691C>ACA409636500KCNQ2c.2626G>T (p.Gly876Cys)
c.2572G>T (p.Gly858Cys)
c.1969G>T (p.Gly657Cys)
c.2479G>T (p.Gly827Cys)
c.2140G>T (p.Gly714Cys)
c.2488G>T (p.Gly830Cys)
c.2241+355G>T (n.2241+355G>T)
c.2205+355G>T (n.2205+355G>T)
c.2518G>T (p.Gly840Cys)
c.2133+355G>T (n.2133+355G>T)
c.1680-5848G>T (n.1680-5848G>T)
c.2614G>T (p.Gly872Cys)
c.2680G>T (p.Gly894Cys)
c.2677G>T (p.Gly893Cys)
c.2650G>T (p.Gly884Cys)
c.2596G>T (p.Gly866Cys)
c.2569G>T (p.Gly857Cys)
c.2554G>T (p.Gly852Cys)
c.2161G>T (p.Gly721Cys)
c.2623G>T (p.Gly875Cys)
c.2560G>T (p.Gly854Cys)
c.2557G>T (p.Gly853Cys)
c.2515G>T (p.Gly839Cys)
c.1588G>T (p.Gly530Cys)
20g.63406691C=CA2374774195KCNQ2c.2626G= (p.Gly876=)
c.2572G= (p.Gly858=)
c.1969G= (p.Gly657=)
c.2479G= (p.Gly827=)
c.2140G= (p.Gly714=)
c.2488G= (p.Gly830=)
c.2241+355G= (n.2241+355G=)
c.2205+355G= (n.2205+355G=)
c.2518G= (p.Gly840=)
c.2133+355G= (n.2133+355G=)
c.1680-5848G= (n.1680-5848G=)
c.2614G= (p.Gly872=)
c.2680G= (p.Gly894=)
c.2677G= (p.Gly893=)
c.2650G= (p.Gly884=)
c.2596G= (p.Gly866=)
c.2569G= (p.Gly857=)
c.2554G= (p.Gly852=)
c.2161G= (p.Gly721=)
c.2623G= (p.Gly875=)
c.2560G= (p.Gly854=)
c.2557G= (p.Gly853=)
c.2515G= (p.Gly839=)
c.1588G= (p.Gly530=)
20g.63406691C>GCA409636502KCNQ2c.2626G>C (p.Gly876Arg)
c.2572G>C (p.Gly858Arg)
c.1969G>C (p.Gly657Arg)
c.2479G>C (p.Gly827Arg)
c.2140G>C (p.Gly714Arg)
c.2488G>C (p.Gly830Arg)
c.2241+355G>C (n.2241+355G>C)
c.2205+355G>C (n.2205+355G>C)
c.2518G>C (p.Gly840Arg)
c.2133+355G>C (n.2133+355G>C)
c.1680-5848G>C (n.1680-5848G>C)
c.2614G>C (p.Gly872Arg)
c.2680G>C (p.Gly894Arg)
c.2677G>C (p.Gly893Arg)
c.2650G>C (p.Gly884Arg)
c.2596G>C (p.Gly866Arg)
c.2569G>C (p.Gly857Arg)
c.2554G>C (p.Gly852Arg)
c.2161G>C (p.Gly721Arg)
c.2623G>C (p.Gly875Arg)
c.2560G>C (p.Gly854Arg)
c.2557G>C (p.Gly853Arg)
c.2515G>C (p.Gly839Arg)
c.1588G>C (p.Gly530Arg)
 ClinVar
20g.63406691C>TCA090956KCNQ2c.2626G>A (p.Gly876Ser)
c.2572G>A (p.Gly858Ser)
c.1969G>A (p.Gly657Ser)
c.2479G>A (p.Gly827Ser)
c.2140G>A (p.Gly714Ser)
c.2488G>A (p.Gly830Ser)
c.2241+355G>A (n.2241+355G>A)
c.2205+355G>A (n.2205+355G>A)
c.2518G>A (p.Gly840Ser)
c.2133+355G>A (n.2133+355G>A)
c.1680-5848G>A (n.1680-5848G>A)
c.2614G>A (p.Gly872Ser)
c.2680G>A (p.Gly894Ser)
c.2677G>A (p.Gly893Ser)
c.2650G>A (p.Gly884Ser)
c.2596G>A (p.Gly866Ser)
c.2569G>A (p.Gly857Ser)
c.2554G>A (p.Gly852Ser)
c.2161G>A (p.Gly721Ser)
c.2623G>A (p.Gly875Ser)
c.2560G>A (p.Gly854Ser)
c.2557G>A (p.Gly853Ser)
c.2515G>A (p.Gly839Ser)
c.1588G>A (p.Gly530Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406692G>ACA315327KCNQ2c.2625C>T (p.Thr875=)
c.2571C>T (p.Thr857=)
c.1968C>T (p.Thr656=)
c.2478C>T (p.Thr826=)
c.2139C>T (p.Thr713=)
c.2487C>T (p.Thr829=)
c.2241+354C>T (n.2241+354C>T)
c.2205+354C>T (n.2205+354C>T)
c.2517C>T (p.Thr839=)
c.2133+354C>T (n.2133+354C>T)
c.1680-5849C>T (n.1680-5849C>T)
c.2613C>T (p.Thr871=)
c.2679C>T (p.Thr893=)
c.2676C>T (p.Thr892=)
c.2649C>T (p.Thr883=)
c.2595C>T (p.Thr865=)
c.2568C>T (p.Thr856=)
c.2553C>T (p.Thr851=)
c.2160C>T (p.Thr720=)
c.2622C>T (p.Thr874=)
c.2559C>T (p.Thr853=)
c.2556C>T (p.Thr852=)
c.2514C>T (p.Thr838=)
c.1587C>T (p.Thr529=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406692G>CCA511339194KCNQ2c.2625C>G (p.Thr875=)
c.2571C>G (p.Thr857=)
c.1968C>G (p.Thr656=)
c.2478C>G (p.Thr826=)
c.2139C>G (p.Thr713=)
c.2487C>G (p.Thr829=)
c.2241+354C>G (n.2241+354C>G)
c.2205+354C>G (n.2205+354C>G)
c.2517C>G (p.Thr839=)
c.2133+354C>G (n.2133+354C>G)
c.1680-5849C>G (n.1680-5849C>G)
c.2613C>G (p.Thr871=)
c.2679C>G (p.Thr893=)
c.2676C>G (p.Thr892=)
c.2649C>G (p.Thr883=)
c.2595C>G (p.Thr865=)
c.2568C>G (p.Thr856=)
c.2553C>G (p.Thr851=)
c.2160C>G (p.Thr720=)
c.2622C>G (p.Thr874=)
c.2559C>G (p.Thr853=)
c.2556C>G (p.Thr852=)
c.2514C>G (p.Thr838=)
c.1587C>G (p.Thr529=)
20g.63406692G=CA2374774196KCNQ2c.2625C= (p.Thr875=)
c.2571C= (p.Thr857=)
c.1968C= (p.Thr656=)
c.2478C= (p.Thr826=)
c.2139C= (p.Thr713=)
c.2487C= (p.Thr829=)
c.2241+354C= (n.2241+354C=)
c.2205+354C= (n.2205+354C=)
c.2517C= (p.Thr839=)
c.2133+354C= (n.2133+354C=)
c.1680-5849C= (n.1680-5849C=)
c.2613C= (p.Thr871=)
c.2679C= (p.Thr893=)
c.2676C= (p.Thr892=)
c.2649C= (p.Thr883=)
c.2595C= (p.Thr865=)
c.2568C= (p.Thr856=)
c.2553C= (p.Thr851=)
c.2160C= (p.Thr720=)
c.2622C= (p.Thr874=)
c.2559C= (p.Thr853=)
c.2556C= (p.Thr852=)
c.2514C= (p.Thr838=)
c.1587C= (p.Thr529=)
20g.63406692G>TCA511339195KCNQ2c.2625C>A (p.Thr875=)
c.2571C>A (p.Thr857=)
c.1968C>A (p.Thr656=)
c.2478C>A (p.Thr826=)
c.2139C>A (p.Thr713=)
c.2487C>A (p.Thr829=)
c.2241+354C>A (n.2241+354C>A)
c.2205+354C>A (n.2205+354C>A)
c.2517C>A (p.Thr839=)
c.2133+354C>A (n.2133+354C>A)
c.1680-5849C>A (n.1680-5849C>A)
c.2613C>A (p.Thr871=)
c.2679C>A (p.Thr893=)
c.2676C>A (p.Thr892=)
c.2649C>A (p.Thr883=)
c.2595C>A (p.Thr865=)
c.2568C>A (p.Thr856=)
c.2553C>A (p.Thr851=)
c.2160C>A (p.Thr720=)
c.2622C>A (p.Thr874=)
c.2559C>A (p.Thr853=)
c.2556C>A (p.Thr852=)
c.2514C>A (p.Thr838=)
c.1587C>A (p.Thr529=)
 gnomAD v4
20g.63406693G>ACA9958056KCNQ2c.2624C>T (p.Thr875Ile)
c.2570C>T (p.Thr857Ile)
c.1967C>T (p.Thr656Ile)
c.2477C>T (p.Thr826Ile)
c.2138C>T (p.Thr713Ile)
c.2486C>T (p.Thr829Ile)
c.2241+353C>T (n.2241+353C>T)
c.2205+353C>T (n.2205+353C>T)
c.2516C>T (p.Thr839Ile)
c.2133+353C>T (n.2133+353C>T)
c.1680-5850C>T (n.1680-5850C>T)
c.2612C>T (p.Thr871Ile)
c.2678C>T (p.Thr893Ile)
c.2675C>T (p.Thr892Ile)
c.2648C>T (p.Thr883Ile)
c.2594C>T (p.Thr865Ile)
c.2567C>T (p.Thr856Ile)
c.2552C>T (p.Thr851Ile)
c.2159C>T (p.Thr720Ile)
c.2621C>T (p.Thr874Ile)
c.2558C>T (p.Thr853Ile)
c.2555C>T (p.Thr852Ile)
c.2513C>T (p.Thr838Ile)
c.1586C>T (p.Thr529Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406693G>CCA409636508KCNQ2c.2624C>G (p.Thr875Ser)
c.2570C>G (p.Thr857Ser)
c.1967C>G (p.Thr656Ser)
c.2477C>G (p.Thr826Ser)
c.2138C>G (p.Thr713Ser)
c.2486C>G (p.Thr829Ser)
c.2241+353C>G (n.2241+353C>G)
c.2205+353C>G (n.2205+353C>G)
c.2516C>G (p.Thr839Ser)
c.2133+353C>G (n.2133+353C>G)
c.1680-5850C>G (n.1680-5850C>G)
c.2612C>G (p.Thr871Ser)
c.2678C>G (p.Thr893Ser)
c.2675C>G (p.Thr892Ser)
c.2648C>G (p.Thr883Ser)
c.2594C>G (p.Thr865Ser)
c.2567C>G (p.Thr856Ser)
c.2552C>G (p.Thr851Ser)
c.2159C>G (p.Thr720Ser)
c.2621C>G (p.Thr874Ser)
c.2558C>G (p.Thr853Ser)
c.2555C>G (p.Thr852Ser)
c.2513C>G (p.Thr838Ser)
c.1586C>G (p.Thr529Ser)
20g.63406693G=CA2374774197KCNQ2c.2624C= (p.Thr875=)
c.2570C= (p.Thr857=)
c.1967C= (p.Thr656=)
c.2477C= (p.Thr826=)
c.2138C= (p.Thr713=)
c.2486C= (p.Thr829=)
c.2241+353C= (n.2241+353C=)
c.2205+353C= (n.2205+353C=)
c.2516C= (p.Thr839=)
c.2133+353C= (n.2133+353C=)
c.1680-5850C= (n.1680-5850C=)
c.2612C= (p.Thr871=)
c.2678C= (p.Thr893=)
c.2675C= (p.Thr892=)
c.2648C= (p.Thr883=)
c.2594C= (p.Thr865=)
c.2567C= (p.Thr856=)
c.2552C= (p.Thr851=)
c.2159C= (p.Thr720=)
c.2621C= (p.Thr874=)
c.2558C= (p.Thr853=)
c.2555C= (p.Thr852=)
c.2513C= (p.Thr838=)
c.1586C= (p.Thr529=)
20g.63406693G>TCA409636511KCNQ2c.2624C>A (p.Thr875Asn)
c.2570C>A (p.Thr857Asn)
c.1967C>A (p.Thr656Asn)
c.2477C>A (p.Thr826Asn)
c.2138C>A (p.Thr713Asn)
c.2486C>A (p.Thr829Asn)
c.2241+353C>A (n.2241+353C>A)
c.2205+353C>A (n.2205+353C>A)
c.2516C>A (p.Thr839Asn)
c.2133+353C>A (n.2133+353C>A)
c.1680-5850C>A (n.1680-5850C>A)
c.2612C>A (p.Thr871Asn)
c.2678C>A (p.Thr893Asn)
c.2675C>A (p.Thr892Asn)
c.2648C>A (p.Thr883Asn)
c.2594C>A (p.Thr865Asn)
c.2567C>A (p.Thr856Asn)
c.2552C>A (p.Thr851Asn)
c.2159C>A (p.Thr720Asn)
c.2621C>A (p.Thr874Asn)
c.2558C>A (p.Thr853Asn)
c.2555C>A (p.Thr852Asn)
c.2513C>A (p.Thr838Asn)
c.1586C>A (p.Thr529Asn)
 gnomAD v4
20g.63406694_63406699dupCA2577453407KCNQ2c.2619_2624dup (p.Thr875_Gly876insAlaThr)
c.2565_2570dup (p.Thr857_Gly858insAlaThr)
c.1962_1967dup (p.Thr656_Gly657insAlaThr)
c.2472_2477dup (p.Thr826_Gly827insAlaThr)
c.2133_2138dup (p.Thr713_Gly714insAlaThr)
c.2481_2486dup (p.Thr829_Gly830insAlaThr)
c.2241+348_2241+353dup (n.2241+348_2241+353dup)
c.2205+348_2205+353dup (n.2205+348_2205+353dup)
c.2511_2516dup (p.Thr839_Gly840insAlaThr)
c.2133+348_2133+353dup (n.2133+348_2133+353dup)
c.1680-5855_1680-5850dup (n.1680-5855_1680-5850dup)
c.2607_2612dup (p.Thr871_Gly872insAlaThr)
c.2673_2678dup (p.Thr893_Gly894insAlaThr)
c.2670_2675dup (p.Thr892_Gly893insAlaThr)
c.2643_2648dup (p.Thr883_Gly884insAlaThr)
c.2589_2594dup (p.Thr865_Gly866insAlaThr)
c.2562_2567dup (p.Thr856_Gly857insAlaThr)
c.2547_2552dup (p.Thr851_Gly852insAlaThr)
c.2154_2159dup (p.Thr720_Gly721insAlaThr)
c.2616_2621dup (p.Thr874_Gly875insAlaThr)
c.2553_2558dup (p.Thr853_Gly854insAlaThr)
c.2550_2555dup (p.Thr852_Gly853insAlaThr)
c.2508_2513dup (p.Thr838_Gly839insAlaThr)
c.1581_1586dup (p.Thr529_Gly530insAlaThr)
20g.63406694T>ACA409636513KCNQ2c.2623A>T (p.Thr875Ser)
c.2569A>T (p.Thr857Ser)
c.1966A>T (p.Thr656Ser)
c.2476A>T (p.Thr826Ser)
c.2137A>T (p.Thr713Ser)
c.2485A>T (p.Thr829Ser)
c.2241+352A>T (n.2241+352A>T)
c.2205+352A>T (n.2205+352A>T)
c.2515A>T (p.Thr839Ser)
c.2133+352A>T (n.2133+352A>T)
c.1680-5851A>T (n.1680-5851A>T)
c.2611A>T (p.Thr871Ser)
c.2677A>T (p.Thr893Ser)
c.2674A>T (p.Thr892Ser)
c.2647A>T (p.Thr883Ser)
c.2593A>T (p.Thr865Ser)
c.2566A>T (p.Thr856Ser)
c.2551A>T (p.Thr851Ser)
c.2158A>T (p.Thr720Ser)
c.2620A>T (p.Thr874Ser)
c.2557A>T (p.Thr853Ser)
c.2554A>T (p.Thr852Ser)
c.2512A>T (p.Thr838Ser)
c.1585A>T (p.Thr529Ser)
20g.63406694T>CCA409636515KCNQ2c.2623A>G (p.Thr875Ala)
c.2569A>G (p.Thr857Ala)
c.1966A>G (p.Thr656Ala)
c.2476A>G (p.Thr826Ala)
c.2137A>G (p.Thr713Ala)
c.2485A>G (p.Thr829Ala)
c.2241+352A>G (n.2241+352A>G)
c.2205+352A>G (n.2205+352A>G)
c.2515A>G (p.Thr839Ala)
c.2133+352A>G (n.2133+352A>G)
c.1680-5851A>G (n.1680-5851A>G)
c.2611A>G (p.Thr871Ala)
c.2677A>G (p.Thr893Ala)
c.2674A>G (p.Thr892Ala)
c.2647A>G (p.Thr883Ala)
c.2593A>G (p.Thr865Ala)
c.2566A>G (p.Thr856Ala)
c.2551A>G (p.Thr851Ala)
c.2158A>G (p.Thr720Ala)
c.2620A>G (p.Thr874Ala)
c.2557A>G (p.Thr853Ala)
c.2554A>G (p.Thr852Ala)
c.2512A>G (p.Thr838Ala)
c.1585A>G (p.Thr529Ala)
 dbSNP gnomAD v3 gnomAD v4
20g.63406694T>GCA409636516KCNQ2c.2623A>C (p.Thr875Pro)
c.2569A>C (p.Thr857Pro)
c.1966A>C (p.Thr656Pro)
c.2476A>C (p.Thr826Pro)
c.2137A>C (p.Thr713Pro)
c.2485A>C (p.Thr829Pro)
c.2241+352A>C (n.2241+352A>C)
c.2205+352A>C (n.2205+352A>C)
c.2515A>C (p.Thr839Pro)
c.2133+352A>C (n.2133+352A>C)
c.1680-5851A>C (n.1680-5851A>C)
c.2611A>C (p.Thr871Pro)
c.2677A>C (p.Thr893Pro)
c.2674A>C (p.Thr892Pro)
c.2647A>C (p.Thr883Pro)
c.2593A>C (p.Thr865Pro)
c.2566A>C (p.Thr856Pro)
c.2551A>C (p.Thr851Pro)
c.2158A>C (p.Thr720Pro)
c.2620A>C (p.Thr874Pro)
c.2557A>C (p.Thr853Pro)
c.2554A>C (p.Thr852Pro)
c.2512A>C (p.Thr838Pro)
c.1585A>C (p.Thr529Pro)
 gnomAD v4
20g.63406694T=CA2374774198KCNQ2c.2623A= (p.Thr875=)
c.2569A= (p.Thr857=)
c.1966A= (p.Thr656=)
c.2476A= (p.Thr826=)
c.2137A= (p.Thr713=)
c.2485A= (p.Thr829=)
c.2241+352A= (n.2241+352A=)
c.2205+352A= (n.2205+352A=)
c.2515A= (p.Thr839=)
c.2133+352A= (n.2133+352A=)
c.1680-5851A= (n.1680-5851A=)
c.2611A= (p.Thr871=)
c.2677A= (p.Thr893=)
c.2674A= (p.Thr892=)
c.2647A= (p.Thr883=)
c.2593A= (p.Thr865=)
c.2566A= (p.Thr856=)
c.2551A= (p.Thr851=)
c.2158A= (p.Thr720=)
c.2620A= (p.Thr874=)
c.2557A= (p.Thr853=)
c.2554A= (p.Thr852=)
c.2512A= (p.Thr838=)
c.1585A= (p.Thr529=)
20g.63406695G>ACA511339196KCNQ2c.2622C>T (p.Ala874=)
c.2568C>T (p.Ala856=)
c.1965C>T (p.Ala655=)
c.2475C>T (p.Ala825=)
c.2136C>T (p.Ala712=)
c.2484C>T (p.Ala828=)
c.2241+351C>T (n.2241+351C>T)
c.2205+351C>T (n.2205+351C>T)
c.2514C>T (p.Ala838=)
c.2133+351C>T (n.2133+351C>T)
c.1680-5852C>T (n.1680-5852C>T)
c.2610C>T (p.Ala870=)
c.2676C>T (p.Ala892=)
c.2673C>T (p.Ala891=)
c.2646C>T (p.Ala882=)
c.2592C>T (p.Ala864=)
c.2565C>T (p.Ala855=)
c.2550C>T (p.Ala850=)
c.2157C>T (p.Ala719=)
c.2619C>T (p.Ala873=)
c.2556C>T (p.Ala852=)
c.2553C>T (p.Ala851=)
c.2511C>T (p.Ala837=)
c.1584C>T (p.Ala528=)
 gnomAD v4
20g.63406695G>CCA511339197KCNQ2c.2622C>G (p.Ala874=)
c.2568C>G (p.Ala856=)
c.1965C>G (p.Ala655=)
c.2475C>G (p.Ala825=)
c.2136C>G (p.Ala712=)
c.2484C>G (p.Ala828=)
c.2241+351C>G (n.2241+351C>G)
c.2205+351C>G (n.2205+351C>G)
c.2514C>G (p.Ala838=)
c.2133+351C>G (n.2133+351C>G)
c.1680-5852C>G (n.1680-5852C>G)
c.2610C>G (p.Ala870=)
c.2676C>G (p.Ala892=)
c.2673C>G (p.Ala891=)
c.2646C>G (p.Ala882=)
c.2592C>G (p.Ala864=)
c.2565C>G (p.Ala855=)
c.2550C>G (p.Ala850=)
c.2157C>G (p.Ala719=)
c.2619C>G (p.Ala873=)
c.2556C>G (p.Ala852=)
c.2553C>G (p.Ala851=)
c.2511C>G (p.Ala837=)
c.1584C>G (p.Ala528=)
20g.63406695G>TCA511339198KCNQ2c.2622C>A (p.Ala874=)
c.2568C>A (p.Ala856=)
c.1965C>A (p.Ala655=)
c.2475C>A (p.Ala825=)
c.2136C>A (p.Ala712=)
c.2484C>A (p.Ala828=)
c.2241+351C>A (n.2241+351C>A)
c.2205+351C>A (n.2205+351C>A)
c.2514C>A (p.Ala838=)
c.2133+351C>A (n.2133+351C>A)
c.1680-5852C>A (n.1680-5852C>A)
c.2610C>A (p.Ala870=)
c.2676C>A (p.Ala892=)
c.2673C>A (p.Ala891=)
c.2646C>A (p.Ala882=)
c.2592C>A (p.Ala864=)
c.2565C>A (p.Ala855=)
c.2550C>A (p.Ala850=)
c.2157C>A (p.Ala719=)
c.2619C>A (p.Ala873=)
c.2556C>A (p.Ala852=)
c.2553C>A (p.Ala851=)
c.2511C>A (p.Ala837=)
c.1584C>A (p.Ala528=)
20g.63406696G>ACA409636519KCNQ2c.2621C>T (p.Ala874Val)
c.2567C>T (p.Ala856Val)
c.1964C>T (p.Ala655Val)
c.2474C>T (p.Ala825Val)
c.2135C>T (p.Ala712Val)
c.2483C>T (p.Ala828Val)
c.2241+350C>T (n.2241+350C>T)
c.2205+350C>T (n.2205+350C>T)
c.2513C>T (p.Ala838Val)
c.2133+350C>T (n.2133+350C>T)
c.1680-5853C>T (n.1680-5853C>T)
c.2609C>T (p.Ala870Val)
c.2675C>T (p.Ala892Val)
c.2672C>T (p.Ala891Val)
c.2645C>T (p.Ala882Val)
c.2591C>T (p.Ala864Val)
c.2564C>T (p.Ala855Val)
c.2549C>T (p.Ala850Val)
c.2156C>T (p.Ala719Val)
c.2618C>T (p.Ala873Val)
c.2555C>T (p.Ala852Val)
c.2552C>T (p.Ala851Val)
c.2510C>T (p.Ala837Val)
c.1583C>T (p.Ala528Val)
 dbSNP gnomAD v2 gnomAD v4
20g.63406696G>CCA409636521KCNQ2c.2621C>G (p.Ala874Gly)
c.2567C>G (p.Ala856Gly)
c.1964C>G (p.Ala655Gly)
c.2474C>G (p.Ala825Gly)
c.2135C>G (p.Ala712Gly)
c.2483C>G (p.Ala828Gly)
c.2241+350C>G (n.2241+350C>G)
c.2205+350C>G (n.2205+350C>G)
c.2513C>G (p.Ala838Gly)
c.2133+350C>G (n.2133+350C>G)
c.1680-5853C>G (n.1680-5853C>G)
c.2609C>G (p.Ala870Gly)
c.2675C>G (p.Ala892Gly)
c.2672C>G (p.Ala891Gly)
c.2645C>G (p.Ala882Gly)
c.2591C>G (p.Ala864Gly)
c.2564C>G (p.Ala855Gly)
c.2549C>G (p.Ala850Gly)
c.2156C>G (p.Ala719Gly)
c.2618C>G (p.Ala873Gly)
c.2555C>G (p.Ala852Gly)
c.2552C>G (p.Ala851Gly)
c.2510C>G (p.Ala837Gly)
c.1583C>G (p.Ala528Gly)
 gnomAD v4
20g.63406696G=CA2374774199KCNQ2c.2621C= (p.Ala874=)
c.2567C= (p.Ala856=)
c.1964C= (p.Ala655=)
c.2474C= (p.Ala825=)
c.2135C= (p.Ala712=)
c.2483C= (p.Ala828=)
c.2241+350C= (n.2241+350C=)
c.2205+350C= (n.2205+350C=)
c.2513C= (p.Ala838=)
c.2133+350C= (n.2133+350C=)
c.1680-5853C= (n.1680-5853C=)
c.2609C= (p.Ala870=)
c.2675C= (p.Ala892=)
c.2672C= (p.Ala891=)
c.2645C= (p.Ala882=)
c.2591C= (p.Ala864=)
c.2564C= (p.Ala855=)
c.2549C= (p.Ala850=)
c.2156C= (p.Ala719=)
c.2618C= (p.Ala873=)
c.2555C= (p.Ala852=)
c.2552C= (p.Ala851=)
c.2510C= (p.Ala837=)
c.1583C= (p.Ala528=)
20g.63406696G>TCA409636523KCNQ2c.2621C>A (p.Ala874Asp)
c.2567C>A (p.Ala856Asp)
c.1964C>A (p.Ala655Asp)
c.2474C>A (p.Ala825Asp)
c.2135C>A (p.Ala712Asp)
c.2483C>A (p.Ala828Asp)
c.2241+350C>A (n.2241+350C>A)
c.2205+350C>A (n.2205+350C>A)
c.2513C>A (p.Ala838Asp)
c.2133+350C>A (n.2133+350C>A)
c.1680-5853C>A (n.1680-5853C>A)
c.2609C>A (p.Ala870Asp)
c.2675C>A (p.Ala892Asp)
c.2672C>A (p.Ala891Asp)
c.2645C>A (p.Ala882Asp)
c.2591C>A (p.Ala864Asp)
c.2564C>A (p.Ala855Asp)
c.2549C>A (p.Ala850Asp)
c.2156C>A (p.Ala719Asp)
c.2618C>A (p.Ala873Asp)
c.2555C>A (p.Ala852Asp)
c.2552C>A (p.Ala851Asp)
c.2510C>A (p.Ala837Asp)
c.1583C>A (p.Ala528Asp)
 gnomAD v4
20g.63406697C>ACA409636526KCNQ2c.2620G>T (p.Ala874Ser)
c.2566G>T (p.Ala856Ser)
c.1963G>T (p.Ala655Ser)
c.2473G>T (p.Ala825Ser)
c.2134G>T (p.Ala712Ser)
c.2482G>T (p.Ala828Ser)
c.2241+349G>T (n.2241+349G>T)
c.2205+349G>T (n.2205+349G>T)
c.2512G>T (p.Ala838Ser)
c.2133+349G>T (n.2133+349G>T)
c.1680-5854G>T (n.1680-5854G>T)
c.2608G>T (p.Ala870Ser)
c.2674G>T (p.Ala892Ser)
c.2671G>T (p.Ala891Ser)
c.2644G>T (p.Ala882Ser)
c.2590G>T (p.Ala864Ser)
c.2563G>T (p.Ala855Ser)
c.2548G>T (p.Ala850Ser)
c.2155G>T (p.Ala719Ser)
c.2617G>T (p.Ala873Ser)
c.2554G>T (p.Ala852Ser)
c.2551G>T (p.Ala851Ser)
c.2509G>T (p.Ala837Ser)
c.1582G>T (p.Ala528Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63406697C=CA2374774200KCNQ2c.2620G= (p.Ala874=)
c.2566G= (p.Ala856=)
c.1963G= (p.Ala655=)
c.2473G= (p.Ala825=)
c.2134G= (p.Ala712=)
c.2482G= (p.Ala828=)
c.2241+349G= (n.2241+349G=)
c.2205+349G= (n.2205+349G=)
c.2512G= (p.Ala838=)
c.2133+349G= (n.2133+349G=)
c.1680-5854G= (n.1680-5854G=)
c.2608G= (p.Ala870=)
c.2674G= (p.Ala892=)
c.2671G= (p.Ala891=)
c.2644G= (p.Ala882=)
c.2590G= (p.Ala864=)
c.2563G= (p.Ala855=)
c.2548G= (p.Ala850=)
c.2155G= (p.Ala719=)
c.2617G= (p.Ala873=)
c.2554G= (p.Ala852=)
c.2551G= (p.Ala851=)
c.2509G= (p.Ala837=)
c.1582G= (p.Ala528=)
20g.63406697C>GCA409636527KCNQ2c.2620G>C (p.Ala874Pro)
c.2566G>C (p.Ala856Pro)
c.1963G>C (p.Ala655Pro)
c.2473G>C (p.Ala825Pro)
c.2134G>C (p.Ala712Pro)
c.2482G>C (p.Ala828Pro)
c.2241+349G>C (n.2241+349G>C)
c.2205+349G>C (n.2205+349G>C)
c.2512G>C (p.Ala838Pro)
c.2133+349G>C (n.2133+349G>C)
c.1680-5854G>C (n.1680-5854G>C)
c.2608G>C (p.Ala870Pro)
c.2674G>C (p.Ala892Pro)
c.2671G>C (p.Ala891Pro)
c.2644G>C (p.Ala882Pro)
c.2590G>C (p.Ala864Pro)
c.2563G>C (p.Ala855Pro)
c.2548G>C (p.Ala850Pro)
c.2155G>C (p.Ala719Pro)
c.2617G>C (p.Ala873Pro)
c.2554G>C (p.Ala852Pro)
c.2551G>C (p.Ala851Pro)
c.2509G>C (p.Ala837Pro)
c.1582G>C (p.Ala528Pro)
 ClinVar
20g.63406697C>TCA409636525KCNQ2c.2620G>A (p.Ala874Thr)
c.2566G>A (p.Ala856Thr)
c.1963G>A (p.Ala655Thr)
c.2473G>A (p.Ala825Thr)
c.2134G>A (p.Ala712Thr)
c.2482G>A (p.Ala828Thr)
c.2241+349G>A (n.2241+349G>A)
c.2205+349G>A (n.2205+349G>A)
c.2512G>A (p.Ala838Thr)
c.2133+349G>A (n.2133+349G>A)
c.1680-5854G>A (n.1680-5854G>A)
c.2608G>A (p.Ala870Thr)
c.2674G>A (p.Ala892Thr)
c.2671G>A (p.Ala891Thr)
c.2644G>A (p.Ala882Thr)
c.2590G>A (p.Ala864Thr)
c.2563G>A (p.Ala855Thr)
c.2548G>A (p.Ala850Thr)
c.2155G>A (p.Ala719Thr)
c.2617G>A (p.Ala873Thr)
c.2554G>A (p.Ala852Thr)
c.2551G>A (p.Ala851Thr)
c.2509G>A (p.Ala837Thr)
c.1582G>A (p.Ala528Thr)
 gnomAD v4
20g.63406697_63406727delinsCCGAGCGTGGCGGGGGCCCGCACGGGGTACACA2374774201KCNQ2c.2590_2620delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys864=)
c.2536_2566delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys846=)
c.1933_1963delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys645=)
c.2443_2473delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys815=)
c.2104_2134delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys702=)
c.2452_2482delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys818=)
c.2241+319_2241+349delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (n.2241+319_2241+349delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG)
c.2205+319_2205+349delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (n.2205+319_2205+349delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG)
c.2482_2512delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys828=)
c.2133+319_2133+349delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (n.2133+319_2133+349delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG)
c.1680-5884_1680-5854delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (n.1680-5884_1680-5854delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG)
c.2578_2608delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys860=)
c.2644_2674delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys882=)
c.2641_2671delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys881=)
c.2614_2644delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys872=)
c.2560_2590delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys854=)
c.2533_2563delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys845=)
c.2518_2548delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys840=)
c.2125_2155delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys709=)
c.2587_2617delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys863=)
c.2524_2554delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys842=)
c.2521_2551delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys841=)
c.2479_2509delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys827=)
c.1552_1582delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys518=)
20g.63406698C>ACA511339199KCNQ2c.2619G>T (p.Ser873=)
c.2565G>T (p.Ser855=)
c.1962G>T (p.Ser654=)
c.2472G>T (p.Ser824=)
c.2133G>T (p.Ser711=)
c.2481G>T (p.Ser827=)
c.2241+348G>T (n.2241+348G>T)
c.2205+348G>T (n.2205+348G>T)
c.2511G>T (p.Ser837=)
c.2133+348G>T (n.2133+348G>T)
c.1680-5855G>T (n.1680-5855G>T)
c.2607G>T (p.Ser869=)
c.2673G>T (p.Ser891=)
c.2670G>T (p.Ser890=)
c.2643G>T (p.Ser881=)
c.2589G>T (p.Ser863=)
c.2562G>T (p.Ser854=)
c.2547G>T (p.Ser849=)
c.2154G>T (p.Ser718=)
c.2616G>T (p.Ser872=)
c.2553G>T (p.Ser851=)
c.2550G>T (p.Ser850=)
c.2508G>T (p.Ser836=)
c.1581G>T (p.Ser527=)
 gnomAD v4
20g.63406698C=CA2374774203KCNQ2c.2619G= (p.Ser873=)
c.2565G= (p.Ser855=)
c.1962G= (p.Ser654=)
c.2472G= (p.Ser824=)
c.2133G= (p.Ser711=)
c.2481G= (p.Ser827=)
c.2241+348G= (n.2241+348G=)
c.2205+348G= (n.2205+348G=)
c.2511G= (p.Ser837=)
c.2133+348G= (n.2133+348G=)
c.1680-5855G= (n.1680-5855G=)
c.2607G= (p.Ser869=)
c.2673G= (p.Ser891=)
c.2670G= (p.Ser890=)
c.2643G= (p.Ser881=)
c.2589G= (p.Ser863=)
c.2562G= (p.Ser854=)
c.2547G= (p.Ser849=)
c.2154G= (p.Ser718=)
c.2616G= (p.Ser872=)
c.2553G= (p.Ser851=)
c.2550G= (p.Ser850=)
c.2508G= (p.Ser836=)
c.1581G= (p.Ser527=)
20g.63406698C>GCA511339200KCNQ2c.2619G>C (p.Ser873=)
c.2565G>C (p.Ser855=)
c.1962G>C (p.Ser654=)
c.2472G>C (p.Ser824=)
c.2133G>C (p.Ser711=)
c.2481G>C (p.Ser827=)
c.2241+348G>C (n.2241+348G>C)
c.2205+348G>C (n.2205+348G>C)
c.2511G>C (p.Ser837=)
c.2133+348G>C (n.2133+348G>C)
c.1680-5855G>C (n.1680-5855G>C)
c.2607G>C (p.Ser869=)
c.2673G>C (p.Ser891=)
c.2670G>C (p.Ser890=)
c.2643G>C (p.Ser881=)
c.2589G>C (p.Ser863=)
c.2562G>C (p.Ser854=)
c.2547G>C (p.Ser849=)
c.2154G>C (p.Ser718=)
c.2616G>C (p.Ser872=)
c.2553G>C (p.Ser851=)
c.2550G>C (p.Ser850=)
c.2508G>C (p.Ser836=)
c.1581G>C (p.Ser527=)
 gnomAD v4
20g.63406698C>TCA317421559KCNQ2c.2619G>A (p.Ser873=)
c.2565G>A (p.Ser855=)
c.1962G>A (p.Ser654=)
c.2472G>A (p.Ser824=)
c.2133G>A (p.Ser711=)
c.2481G>A (p.Ser827=)
c.2241+348G>A (n.2241+348G>A)
c.2205+348G>A (n.2205+348G>A)
c.2511G>A (p.Ser837=)
c.2133+348G>A (n.2133+348G>A)
c.1680-5855G>A (n.1680-5855G>A)
c.2607G>A (p.Ser869=)
c.2673G>A (p.Ser891=)
c.2670G>A (p.Ser890=)
c.2643G>A (p.Ser881=)
c.2589G>A (p.Ser863=)
c.2562G>A (p.Ser854=)
c.2547G>A (p.Ser849=)
c.2154G>A (p.Ser718=)
c.2616G>A (p.Ser872=)
c.2553G>A (p.Ser851=)
c.2550G>A (p.Ser850=)
c.2508G>A (p.Ser836=)
c.1581G>A (p.Ser527=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63406698_63406727delCA2374774202KCNQ2c.2590_2619del (p.Cys864_Ser873del)
c.2536_2565del (p.Cys846_Ser855del)
c.1933_1962del (p.Cys645_Ser654del)
c.2443_2472del (p.Cys815_Ser824del)
c.2104_2133del (p.Cys702_Ser711del)
c.2452_2481del (p.Cys818_Ser827del)
c.2241+319_2241+348del (n.2241+319_2241+348del)
c.2205+319_2205+348del (n.2205+319_2205+348del)
c.2482_2511del (p.Cys828_Ser837del)
c.2133+319_2133+348del (n.2133+319_2133+348del)
c.1680-5884_1680-5855del (n.1680-5884_1680-5855del)
c.2578_2607del (p.Cys860_Ser869del)
c.2644_2673del (p.Cys882_Ser891del)
c.2641_2670del (p.Cys881_Ser890del)
c.2614_2643del (p.Cys872_Ser881del)
c.2560_2589del (p.Cys854_Ser863del)
c.2533_2562del (p.Cys845_Ser854del)
c.2518_2547del (p.Cys840_Ser849del)
c.2125_2154del (p.Cys709_Ser718del)
c.2587_2616del (p.Cys863_Ser872del)
c.2524_2553del (p.Cys842_Ser851del)
c.2521_2550del (p.Cys841_Ser850del)
c.2479_2508del (p.Cys827_Ser836del)
c.1552_1581del (p.Cys518_Ser527del)
 ClinVar dbSNP
20g.63406699G>ACA342492KCNQ2c.2618C>T (p.Ser873Leu)
c.2564C>T (p.Ser855Leu)
c.1961C>T (p.Ser654Leu)
c.2471C>T (p.Ser824Leu)
c.2132C>T (p.Ser711Leu)
c.2480C>T (p.Ser827Leu)
c.2241+347C>T (n.2241+347C>T)
c.2205+347C>T (n.2205+347C>T)
c.2510C>T (p.Ser837Leu)
c.2133+347C>T (n.2133+347C>T)
c.1680-5856C>T (n.1680-5856C>T)
c.2606C>T (p.Ser869Leu)
c.2672C>T (p.Ser891Leu)
c.2669C>T (p.Ser890Leu)
c.2642C>T (p.Ser881Leu)
c.2588C>T (p.Ser863Leu)
c.2561C>T (p.Ser854Leu)
c.2546C>T (p.Ser849Leu)
c.2153C>T (p.Ser718Leu)
c.2615C>T (p.Ser872Leu)
c.2552C>T (p.Ser851Leu)
c.2549C>T (p.Ser850Leu)
c.2507C>T (p.Ser836Leu)
c.1580C>T (p.Ser527Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63406699G>CCA409636529KCNQ2c.2618C>G (p.Ser873Trp)
c.2564C>G (p.Ser855Trp)
c.1961C>G (p.Ser654Trp)
c.2471C>G (p.Ser824Trp)
c.2132C>G (p.Ser711Trp)
c.2480C>G (p.Ser827Trp)
c.2241+347C>G (n.2241+347C>G)
c.2205+347C>G (n.2205+347C>G)
c.2510C>G (p.Ser837Trp)
c.2133+347C>G (n.2133+347C>G)
c.1680-5856C>G (n.1680-5856C>G)
c.2606C>G (p.Ser869Trp)
c.2672C>G (p.Ser891Trp)
c.2669C>G (p.Ser890Trp)
c.2642C>G (p.Ser881Trp)
c.2588C>G (p.Ser863Trp)
c.2561C>G (p.Ser854Trp)
c.2546C>G (p.Ser849Trp)
c.2153C>G (p.Ser718Trp)
c.2615C>G (p.Ser872Trp)
c.2552C>G (p.Ser851Trp)
c.2549C>G (p.Ser850Trp)
c.2507C>G (p.Ser836Trp)
c.1580C>G (p.Ser527Trp)
20g.63406699G=CA2374774204KCNQ2c.2618C= (p.Ser873=)
c.2564C= (p.Ser855=)
c.1961C= (p.Ser654=)
c.2471C= (p.Ser824=)
c.2132C= (p.Ser711=)
c.2480C= (p.Ser827=)
c.2241+347C= (n.2241+347C=)
c.2205+347C= (n.2205+347C=)
c.2510C= (p.Ser837=)
c.2133+347C= (n.2133+347C=)
c.1680-5856C= (n.1680-5856C=)
c.2606C= (p.Ser869=)
c.2672C= (p.Ser891=)
c.2669C= (p.Ser890=)
c.2642C= (p.Ser881=)
c.2588C= (p.Ser863=)
c.2561C= (p.Ser854=)
c.2546C= (p.Ser849=)
c.2153C= (p.Ser718=)
c.2615C= (p.Ser872=)
c.2552C= (p.Ser851=)
c.2549C= (p.Ser850=)
c.2507C= (p.Ser836=)
c.1580C= (p.Ser527=)
20g.63406699G>TCA409636531KCNQ2c.2618C>A (p.Ser873Ter)
c.2564C>A (p.Ser855Ter)
c.1961C>A (p.Ser654Ter)
c.2471C>A (p.Ser824Ter)
c.2132C>A (p.Ser711Ter)
c.2480C>A (p.Ser827Ter)
c.2241+347C>A (n.2241+347C>A)
c.2205+347C>A (n.2205+347C>A)
c.2510C>A (p.Ser837Ter)
c.2133+347C>A (n.2133+347C>A)
c.1680-5856C>A (n.1680-5856C>A)
c.2606C>A (p.Ser869Ter)
c.2672C>A (p.Ser891Ter)
c.2669C>A (p.Ser890Ter)
c.2642C>A (p.Ser881Ter)
c.2588C>A (p.Ser863Ter)
c.2561C>A (p.Ser854Ter)
c.2546C>A (p.Ser849Ter)
c.2153C>A (p.Ser718Ter)
c.2615C>A (p.Ser872Ter)
c.2552C>A (p.Ser851Ter)
c.2549C>A (p.Ser850Ter)
c.2507C>A (p.Ser836Ter)
c.1580C>A (p.Ser527Ter)
 gnomAD v4
20g.63406700A>CCA409636534KCNQ2c.2617T>G (p.Ser873Ala)
c.2563T>G (p.Ser855Ala)
c.1960T>G (p.Ser654Ala)
c.2470T>G (p.Ser824Ala)
c.2131T>G (p.Ser711Ala)
c.2479T>G (p.Ser827Ala)
c.2241+346T>G (n.2241+346T>G)
c.2205+346T>G (n.2205+346T>G)
c.2509T>G (p.Ser837Ala)
c.2133+346T>G (n.2133+346T>G)
c.1680-5857T>G (n.1680-5857T>G)
c.2605T>G (p.Ser869Ala)
c.2671T>G (p.Ser891Ala)
c.2668T>G (p.Ser890Ala)
c.2641T>G (p.Ser881Ala)
c.2587T>G (p.Ser863Ala)
c.2560T>G (p.Ser854Ala)
c.2545T>G (p.Ser849Ala)
c.2152T>G (p.Ser718Ala)
c.2614T>G (p.Ser872Ala)
c.2551T>G (p.Ser851Ala)
c.2548T>G (p.Ser850Ala)
c.2506T>G (p.Ser836Ala)
c.1579T>G (p.Ser527Ala)
20g.63406700A>GCA409636538KCNQ2c.2617T>C (p.Ser873Pro)
c.2563T>C (p.Ser855Pro)
c.1960T>C (p.Ser654Pro)
c.2470T>C (p.Ser824Pro)
c.2131T>C (p.Ser711Pro)
c.2479T>C (p.Ser827Pro)
c.2241+346T>C (n.2241+346T>C)
c.2205+346T>C (n.2205+346T>C)
c.2509T>C (p.Ser837Pro)
c.2133+346T>C (n.2133+346T>C)
c.1680-5857T>C (n.1680-5857T>C)
c.2605T>C (p.Ser869Pro)
c.2671T>C (p.Ser891Pro)
c.2668T>C (p.Ser890Pro)
c.2641T>C (p.Ser881Pro)
c.2587T>C (p.Ser863Pro)
c.2560T>C (p.Ser854Pro)
c.2545T>C (p.Ser849Pro)
c.2152T>C (p.Ser718Pro)
c.2614T>C (p.Ser872Pro)
c.2551T>C (p.Ser851Pro)
c.2548T>C (p.Ser850Pro)
c.2506T>C (p.Ser836Pro)
c.1579T>C (p.Ser527Pro)
20g.63406700A>TCA409636536KCNQ2c.2617T>A (p.Ser873Thr)
c.2563T>A (p.Ser855Thr)
c.1960T>A (p.Ser654Thr)
c.2470T>A (p.Ser824Thr)
c.2131T>A (p.Ser711Thr)
c.2479T>A (p.Ser827Thr)
c.2241+346T>A (n.2241+346T>A)
c.2205+346T>A (n.2205+346T>A)
c.2509T>A (p.Ser837Thr)
c.2133+346T>A (n.2133+346T>A)
c.1680-5857T>A (n.1680-5857T>A)
c.2605T>A (p.Ser869Thr)
c.2671T>A (p.Ser891Thr)
c.2668T>A (p.Ser890Thr)
c.2641T>A (p.Ser881Thr)
c.2587T>A (p.Ser863Thr)
c.2560T>A (p.Ser854Thr)
c.2545T>A (p.Ser849Thr)
c.2152T>A (p.Ser718Thr)
c.2614T>A (p.Ser872Thr)
c.2551T>A (p.Ser851Thr)
c.2548T>A (p.Ser850Thr)
c.2506T>A (p.Ser836Thr)
c.1579T>A (p.Ser527Thr)
20g.63406701_63406702insGCAGCA2520686347KCNQ2c.2617_2618insGCCT (p.Ser873CysfsTer11)
c.2563_2564insGCCT (p.Ser855CysfsTer11)
c.1960_1961insGCCT (p.Ser654CysfsTer11)
c.2470_2471insGCCT (p.Ser824CysfsTer11)
c.2131_2132insGCCT (p.Ser711CysfsTer11)
c.2479_2480insGCCT (p.Ser827CysfsTer11)
c.2241+346_2241+347insGCCT (n.2241+346_2241+347insGCCT)
c.2205+346_2205+347insGCCT (n.2205+346_2205+347insGCCT)
c.2509_2510insGCCT (p.Ser837CysfsTer11)
c.2133+346_2133+347insGCCT (n.2133+346_2133+347insGCCT)
c.1680-5857_1680-5856insGCCT (n.1680-5857_1680-5856insGCCT)
c.2605_2606insGCCT (p.Ser869CysfsTer11)
c.2671_2672insGCCT (p.Ser891CysfsTer11)
c.2668_2669insGCCT (p.Ser890CysfsTer11)
c.2641_2642insGCCT (p.Ser881CysfsTer11)
c.2587_2588insGCCT (p.Ser863CysfsTer11)
c.2560_2561insGCCT (p.Ser854CysfsTer11)
c.2545_2546insGCCT (p.Ser849CysfsTer11)
c.2152_2153insGCCT (p.Ser718CysfsTer11)
c.2614_2615insGCCT (p.Ser872CysfsTer11)
c.2551_2552insGCCT (p.Ser851CysfsTer11)
c.2548_2549insGCCT (p.Ser850CysfsTer11)
c.2506_2507insGCCT (p.Ser836CysfsTer11)
c.1579_1580insGCCT (p.Ser527CysfsTer11)
20g.63406701G>ACA511339201KCNQ2c.2616C>T (p.Arg872=)
c.2562C>T (p.Arg854=)
c.1959C>T (p.Arg653=)
c.2469C>T (p.Arg823=)
c.2130C>T (p.Arg710=)
c.2478C>T (p.Arg826=)
c.2241+345C>T (n.2241+345C>T)
c.2205+345C>T (n.2205+345C>T)
c.2508C>T (p.Arg836=)
c.2133+345C>T (n.2133+345C>T)
c.1680-5858C>T (n.1680-5858C>T)
c.2604C>T (p.Arg868=)
c.2670C>T (p.Arg890=)
c.2667C>T (p.Arg889=)
c.2640C>T (p.Arg880=)
c.2586C>T (p.Arg862=)
c.2559C>T (p.Arg853=)
c.2544C>T (p.Arg848=)
c.2151C>T (p.Arg717=)
c.2613C>T (p.Arg871=)
c.2550C>T (p.Arg850=)
c.2547C>T (p.Arg849=)
c.2505C>T (p.Arg835=)
c.1578C>T (p.Arg526=)
 dbSNP
20g.63406701G>CCA511339202KCNQ2c.2616C>G (p.Arg872=)
c.2562C>G (p.Arg854=)
c.1959C>G (p.Arg653=)
c.2469C>G (p.Arg823=)
c.2130C>G (p.Arg710=)
c.2478C>G (p.Arg826=)
c.2241+345C>G (n.2241+345C>G)
c.2205+345C>G (n.2205+345C>G)
c.2508C>G (p.Arg836=)
c.2133+345C>G (n.2133+345C>G)
c.1680-5858C>G (n.1680-5858C>G)
c.2604C>G (p.Arg868=)
c.2670C>G (p.Arg890=)
c.2667C>G (p.Arg889=)
c.2640C>G (p.Arg880=)
c.2586C>G (p.Arg862=)
c.2559C>G (p.Arg853=)
c.2544C>G (p.Arg848=)
c.2151C>G (p.Arg717=)
c.2613C>G (p.Arg871=)
c.2550C>G (p.Arg850=)
c.2547C>G (p.Arg849=)
c.2505C>G (p.Arg835=)
c.1578C>G (p.Arg526=)
20g.63406701G=CA2374774205KCNQ2c.2616C= (p.Arg872=)
c.2562C= (p.Arg854=)
c.1959C= (p.Arg653=)
c.2469C= (p.Arg823=)
c.2130C= (p.Arg710=)
c.2478C= (p.Arg826=)
c.2241+345C= (n.2241+345C=)
c.2205+345C= (n.2205+345C=)
c.2508C= (p.Arg836=)
c.2133+345C= (n.2133+345C=)
c.1680-5858C= (n.1680-5858C=)
c.2604C= (p.Arg868=)
c.2670C= (p.Arg890=)
c.2667C= (p.Arg889=)
c.2640C= (p.Arg880=)
c.2586C= (p.Arg862=)
c.2559C= (p.Arg853=)
c.2544C= (p.Arg848=)
c.2151C= (p.Arg717=)
c.2613C= (p.Arg871=)
c.2550C= (p.Arg850=)
c.2547C= (p.Arg849=)
c.2505C= (p.Arg835=)
c.1578C= (p.Arg526=)
20g.63406701G>TCA511339203KCNQ2c.2616C>A (p.Arg872=)
c.2562C>A (p.Arg854=)
c.1959C>A (p.Arg653=)
c.2469C>A (p.Arg823=)
c.2130C>A (p.Arg710=)
c.2478C>A (p.Arg826=)
c.2241+345C>A (n.2241+345C>A)
c.2205+345C>A (n.2205+345C>A)
c.2508C>A (p.Arg836=)
c.2133+345C>A (n.2133+345C>A)
c.1680-5858C>A (n.1680-5858C>A)
c.2604C>A (p.Arg868=)
c.2670C>A (p.Arg890=)
c.2667C>A (p.Arg889=)
c.2640C>A (p.Arg880=)
c.2586C>A (p.Arg862=)
c.2559C>A (p.Arg853=)
c.2544C>A (p.Arg848=)
c.2151C>A (p.Arg717=)
c.2613C>A (p.Arg871=)
c.2550C>A (p.Arg850=)
c.2547C>A (p.Arg849=)
c.2505C>A (p.Arg835=)
c.1578C>A (p.Arg526=)
 gnomAD v4
20g.63406702C>ACA409636540KCNQ2c.2615G>T (p.Arg872Leu)
c.2561G>T (p.Arg854Leu)
c.1958G>T (p.Arg653Leu)
c.2468G>T (p.Arg823Leu)
c.2129G>T (p.Arg710Leu)
c.2477G>T (p.Arg826Leu)
c.2241+344G>T (n.2241+344G>T)
c.2205+344G>T (n.2205+344G>T)
c.2507G>T (p.Arg836Leu)
c.2133+344G>T (n.2133+344G>T)
c.1680-5859G>T (n.1680-5859G>T)
c.2603G>T (p.Arg868Leu)
c.2669G>T (p.Arg890Leu)
c.2666G>T (p.Arg889Leu)
c.2639G>T (p.Arg880Leu)
c.2585G>T (p.Arg862Leu)
c.2558G>T (p.Arg853Leu)
c.2543G>T (p.Arg848Leu)
c.2150G>T (p.Arg717Leu)
c.2612G>T (p.Arg871Leu)
c.2549G>T (p.Arg850Leu)
c.2546G>T (p.Arg849Leu)
c.2504G>T (p.Arg835Leu)
c.1577G>T (p.Arg526Leu)
 ClinVar dbSNP gnomAD v4
20g.63406702C=CA2374774206KCNQ2c.2615G= (p.Arg872=)
c.2561G= (p.Arg854=)
c.1958G= (p.Arg653=)
c.2468G= (p.Arg823=)
c.2129G= (p.Arg710=)
c.2477G= (p.Arg826=)
c.2241+344G= (n.2241+344G=)
c.2205+344G= (n.2205+344G=)
c.2507G= (p.Arg836=)
c.2133+344G= (n.2133+344G=)
c.1680-5859G= (n.1680-5859G=)
c.2603G= (p.Arg868=)
c.2669G= (p.Arg890=)
c.2666G= (p.Arg889=)
c.2639G= (p.Arg880=)
c.2585G= (p.Arg862=)
c.2558G= (p.Arg853=)
c.2543G= (p.Arg848=)
c.2150G= (p.Arg717=)
c.2612G= (p.Arg871=)
c.2549G= (p.Arg850=)
c.2546G= (p.Arg849=)
c.2504G= (p.Arg835=)
c.1577G= (p.Arg526=)
20g.63406702C>GCA409636544KCNQ2c.2615G>C (p.Arg872Pro)
c.2561G>C (p.Arg854Pro)
c.1958G>C (p.Arg653Pro)
c.2468G>C (p.Arg823Pro)
c.2129G>C (p.Arg710Pro)
c.2477G>C (p.Arg826Pro)
c.2241+344G>C (n.2241+344G>C)
c.2205+344G>C (n.2205+344G>C)
c.2507G>C (p.Arg836Pro)
c.2133+344G>C (n.2133+344G>C)
c.1680-5859G>C (n.1680-5859G>C)
c.2603G>C (p.Arg868Pro)
c.2669G>C (p.Arg890Pro)
c.2666G>C (p.Arg889Pro)
c.2639G>C (p.Arg880Pro)
c.2585G>C (p.Arg862Pro)
c.2558G>C (p.Arg853Pro)
c.2543G>C (p.Arg848Pro)
c.2150G>C (p.Arg717Pro)
c.2612G>C (p.Arg871Pro)
c.2549G>C (p.Arg850Pro)
c.2546G>C (p.Arg849Pro)
c.2504G>C (p.Arg835Pro)
c.1577G>C (p.Arg526Pro)
 dbSNP gnomAD v4
20g.63406702C>TCA409636542KCNQ2c.2615G>A (p.Arg872His)
c.2561G>A (p.Arg854His)
c.1958G>A (p.Arg653His)
c.2468G>A (p.Arg823His)
c.2129G>A (p.Arg710His)
c.2477G>A (p.Arg826His)
c.2241+344G>A (n.2241+344G>A)
c.2205+344G>A (n.2205+344G>A)
c.2507G>A (p.Arg836His)
c.2133+344G>A (n.2133+344G>A)
c.1680-5859G>A (n.1680-5859G>A)
c.2603G>A (p.Arg868His)
c.2669G>A (p.Arg890His)
c.2666G>A (p.Arg889His)
c.2639G>A (p.Arg880His)
c.2585G>A (p.Arg862His)
c.2558G>A (p.Arg853His)
c.2543G>A (p.Arg848His)
c.2150G>A (p.Arg717His)
c.2612G>A (p.Arg871His)
c.2549G>A (p.Arg850His)
c.2546G>A (p.Arg849His)
c.2504G>A (p.Arg835His)
c.1577G>A (p.Arg526His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.63406703G>ACA9958057KCNQ2c.2614C>T (p.Arg872Cys)
c.2560C>T (p.Arg854Cys)
c.1957C>T (p.Arg653Cys)
c.2467C>T (p.Arg823Cys)
c.2128C>T (p.Arg710Cys)
c.2476C>T (p.Arg826Cys)
c.2241+343C>T (n.2241+343C>T)
c.2205+343C>T (n.2205+343C>T)
c.2506C>T (p.Arg836Cys)
c.2133+343C>T (n.2133+343C>T)
c.1680-5860C>T (n.1680-5860C>T)
c.2602C>T (p.Arg868Cys)
c.2668C>T (p.Arg890Cys)
c.2665C>T (p.Arg889Cys)
c.2638C>T (p.Arg880Cys)
c.2584C>T (p.Arg862Cys)
c.2557C>T (p.Arg853Cys)
c.2542C>T (p.Arg848Cys)
c.2149C>T (p.Arg717Cys)
c.2611C>T (p.Arg871Cys)
c.2548C>T (p.Arg850Cys)
c.2545C>T (p.Arg849Cys)
c.2503C>T (p.Arg835Cys)
c.1576C>T (p.Arg526Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406703G>CCA409636548KCNQ2c.2614C>G (p.Arg872Gly)
c.2560C>G (p.Arg854Gly)
c.1957C>G (p.Arg653Gly)
c.2467C>G (p.Arg823Gly)
c.2128C>G (p.Arg710Gly)
c.2476C>G (p.Arg826Gly)
c.2241+343C>G (n.2241+343C>G)
c.2205+343C>G (n.2205+343C>G)
c.2506C>G (p.Arg836Gly)
c.2133+343C>G (n.2133+343C>G)
c.1680-5860C>G (n.1680-5860C>G)
c.2602C>G (p.Arg868Gly)
c.2668C>G (p.Arg890Gly)
c.2665C>G (p.Arg889Gly)
c.2638C>G (p.Arg880Gly)
c.2584C>G (p.Arg862Gly)
c.2557C>G (p.Arg853Gly)
c.2542C>G (p.Arg848Gly)
c.2149C>G (p.Arg717Gly)
c.2611C>G (p.Arg871Gly)
c.2548C>G (p.Arg850Gly)
c.2545C>G (p.Arg849Gly)
c.2503C>G (p.Arg835Gly)
c.1576C>G (p.Arg526Gly)
20g.63406703G=CA2374774207KCNQ2c.2614C= (p.Arg872=)
c.2560C= (p.Arg854=)
c.1957C= (p.Arg653=)
c.2467C= (p.Arg823=)
c.2128C= (p.Arg710=)
c.2476C= (p.Arg826=)
c.2241+343C= (n.2241+343C=)
c.2205+343C= (n.2205+343C=)
c.2506C= (p.Arg836=)
c.2133+343C= (n.2133+343C=)
c.1680-5860C= (n.1680-5860C=)
c.2602C= (p.Arg868=)
c.2668C= (p.Arg890=)
c.2665C= (p.Arg889=)
c.2638C= (p.Arg880=)
c.2584C= (p.Arg862=)
c.2557C= (p.Arg853=)
c.2542C= (p.Arg848=)
c.2149C= (p.Arg717=)
c.2611C= (p.Arg871=)
c.2548C= (p.Arg850=)
c.2545C= (p.Arg849=)
c.2503C= (p.Arg835=)
c.1576C= (p.Arg526=)
20g.63406703G>TCA409636550KCNQ2c.2614C>A (p.Arg872Ser)
c.2560C>A (p.Arg854Ser)
c.1957C>A (p.Arg653Ser)
c.2467C>A (p.Arg823Ser)
c.2128C>A (p.Arg710Ser)
c.2476C>A (p.Arg826Ser)
c.2241+343C>A (n.2241+343C>A)
c.2205+343C>A (n.2205+343C>A)
c.2506C>A (p.Arg836Ser)
c.2133+343C>A (n.2133+343C>A)
c.1680-5860C>A (n.1680-5860C>A)
c.2602C>A (p.Arg868Ser)
c.2668C>A (p.Arg890Ser)
c.2665C>A (p.Arg889Ser)
c.2638C>A (p.Arg880Ser)
c.2584C>A (p.Arg862Ser)
c.2557C>A (p.Arg853Ser)
c.2542C>A (p.Arg848Ser)
c.2149C>A (p.Arg717Ser)
c.2611C>A (p.Arg871Ser)
c.2548C>A (p.Arg850Ser)
c.2545C>A (p.Arg849Ser)
c.2503C>A (p.Arg835Ser)
c.1576C>A (p.Arg526Ser)
 gnomAD v4
20g.63406703_63406704insCCGGAGTAGGCAATCTCCACGCCCTCA2527180659KCNQ2c.2613_2614insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser873AlafsTer18)
c.2559_2560insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser855AlafsTer18)
c.1956_1957insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser654AlafsTer18)
c.2466_2467insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser824AlafsTer18)
c.2127_2128insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser711AlafsTer18)
c.2475_2476insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser827AlafsTer18)
c.2241+342_2241+343insAGGGCGTGGAGATTGCCTACTCCGG (n.2241+342_2241+343insAGGGCGTGGAGATTGCCTACTCCGG)
c.2205+342_2205+343insAGGGCGTGGAGATTGCCTACTCCGG (n.2205+342_2205+343insAGGGCGTGGAGATTGCCTACTCCGG)
c.2505_2506insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser837AlafsTer18)
c.2133+342_2133+343insAGGGCGTGGAGATTGCCTACTCCGG (n.2133+342_2133+343insAGGGCGTGGAGATTGCCTACTCCGG)
c.1680-5861_1680-5860insAGGGCGTGGAGATTGCCTACTCCGG (n.1680-5861_1680-5860insAGGGCGTGGAGATTGCCTACTCCGG)
c.2601_2602insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser869AlafsTer18)
c.2667_2668insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser891AlafsTer18)
c.2664_2665insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser890AlafsTer18)
c.2637_2638insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser881AlafsTer18)
c.2583_2584insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser863AlafsTer18)
c.2556_2557insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser854AlafsTer18)
c.2541_2542insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser849AlafsTer18)
c.2148_2149insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser718AlafsTer18)
c.2610_2611insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser872AlafsTer18)
c.2547_2548insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser851AlafsTer18)
c.2544_2545insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser850AlafsTer18)
c.2502_2503insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser836AlafsTer18)
c.1575_1576insAGGGCGTGGAGATTGCCTACTCCGG (p.Ser527AlafsTer18)
20g.63406704T>ACA511339204KCNQ2c.2613A>T (p.Pro871=)
c.2559A>T (p.Pro853=)
c.1956A>T (p.Pro652=)
c.2466A>T (p.Pro822=)
c.2127A>T (p.Pro709=)
c.2475A>T (p.Pro825=)
c.2241+342A>T (n.2241+342A>T)
c.2205+342A>T (n.2205+342A>T)
c.2505A>T (p.Pro835=)
c.2133+342A>T (n.2133+342A>T)
c.1680-5861A>T (n.1680-5861A>T)
c.2601A>T (p.Pro867=)
c.2667A>T (p.Pro889=)
c.2664A>T (p.Pro888=)
c.2637A>T (p.Pro879=)
c.2583A>T (p.Pro861=)
c.2556A>T (p.Pro852=)
c.2541A>T (p.Pro847=)
c.2148A>T (p.Pro716=)
c.2610A>T (p.Pro870=)
c.2547A>T (p.Pro849=)
c.2544A>T (p.Pro848=)
c.2502A>T (p.Pro834=)
c.1575A>T (p.Pro525=)
20g.63406704T>CCA511339205KCNQ2c.2613A>G (p.Pro871=)
c.2559A>G (p.Pro853=)
c.1956A>G (p.Pro652=)
c.2466A>G (p.Pro822=)
c.2127A>G (p.Pro709=)
c.2475A>G (p.Pro825=)
c.2241+342A>G (n.2241+342A>G)
c.2205+342A>G (n.2205+342A>G)
c.2505A>G (p.Pro835=)
c.2133+342A>G (n.2133+342A>G)
c.1680-5861A>G (n.1680-5861A>G)
c.2601A>G (p.Pro867=)
c.2667A>G (p.Pro889=)
c.2664A>G (p.Pro888=)
c.2637A>G (p.Pro879=)
c.2583A>G (p.Pro861=)
c.2556A>G (p.Pro852=)
c.2541A>G (p.Pro847=)
c.2148A>G (p.Pro716=)
c.2610A>G (p.Pro870=)
c.2547A>G (p.Pro849=)
c.2544A>G (p.Pro848=)
c.2502A>G (p.Pro834=)
c.1575A>G (p.Pro525=)
20g.63406704T>GCA511339206KCNQ2c.2613A>C (p.Pro871=)
c.2559A>C (p.Pro853=)
c.1956A>C (p.Pro652=)
c.2466A>C (p.Pro822=)
c.2127A>C (p.Pro709=)
c.2475A>C (p.Pro825=)
c.2241+342A>C (n.2241+342A>C)
c.2205+342A>C (n.2205+342A>C)
c.2505A>C (p.Pro835=)
c.2133+342A>C (n.2133+342A>C)
c.1680-5861A>C (n.1680-5861A>C)
c.2601A>C (p.Pro867=)
c.2667A>C (p.Pro889=)
c.2664A>C (p.Pro888=)
c.2637A>C (p.Pro879=)
c.2583A>C (p.Pro861=)
c.2556A>C (p.Pro852=)
c.2541A>C (p.Pro847=)
c.2148A>C (p.Pro716=)
c.2610A>C (p.Pro870=)
c.2547A>C (p.Pro849=)
c.2544A>C (p.Pro848=)
c.2502A>C (p.Pro834=)
c.1575A>C (p.Pro525=)
20g.63406705G>ACA409636552KCNQ2c.2612C>T (p.Pro871Leu)
c.2558C>T (p.Pro853Leu)
c.1955C>T (p.Pro652Leu)
c.2465C>T (p.Pro822Leu)
c.2126C>T (p.Pro709Leu)
c.2474C>T (p.Pro825Leu)
c.2241+341C>T (n.2241+341C>T)
c.2205+341C>T (n.2205+341C>T)
c.2504C>T (p.Pro835Leu)
c.2133+341C>T (n.2133+341C>T)
c.1680-5862C>T (n.1680-5862C>T)
c.2600C>T (p.Pro867Leu)
c.2666C>T (p.Pro889Leu)
c.2663C>T (p.Pro888Leu)
c.2636C>T (p.Pro879Leu)
c.2582C>T (p.Pro861Leu)
c.2555C>T (p.Pro852Leu)
c.2540C>T (p.Pro847Leu)
c.2147C>T (p.Pro716Leu)
c.2609C>T (p.Pro870Leu)
c.2546C>T (p.Pro849Leu)
c.2543C>T (p.Pro848Leu)
c.2501C>T (p.Pro834Leu)
c.1574C>T (p.Pro525Leu)
 COSMIC COSMIC COSMIC
20g.63406705G>CCA409636554KCNQ2c.2612C>G (p.Pro871Arg)
c.2558C>G (p.Pro853Arg)
c.1955C>G (p.Pro652Arg)
c.2465C>G (p.Pro822Arg)
c.2126C>G (p.Pro709Arg)
c.2474C>G (p.Pro825Arg)
c.2241+341C>G (n.2241+341C>G)
c.2205+341C>G (n.2205+341C>G)
c.2504C>G (p.Pro835Arg)
c.2133+341C>G (n.2133+341C>G)
c.1680-5862C>G (n.1680-5862C>G)
c.2600C>G (p.Pro867Arg)
c.2666C>G (p.Pro889Arg)
c.2663C>G (p.Pro888Arg)
c.2636C>G (p.Pro879Arg)
c.2582C>G (p.Pro861Arg)
c.2555C>G (p.Pro852Arg)
c.2540C>G (p.Pro847Arg)
c.2147C>G (p.Pro716Arg)
c.2609C>G (p.Pro870Arg)
c.2546C>G (p.Pro849Arg)
c.2543C>G (p.Pro848Arg)
c.2501C>G (p.Pro834Arg)
c.1574C>G (p.Pro525Arg)
20g.63406705G>TCA409636556KCNQ2c.2612C>A (p.Pro871Gln)
c.2558C>A (p.Pro853Gln)
c.1955C>A (p.Pro652Gln)
c.2465C>A (p.Pro822Gln)
c.2126C>A (p.Pro709Gln)
c.2474C>A (p.Pro825Gln)
c.2241+341C>A (n.2241+341C>A)
c.2205+341C>A (n.2205+341C>A)
c.2504C>A (p.Pro835Gln)
c.2133+341C>A (n.2133+341C>A)
c.1680-5862C>A (n.1680-5862C>A)
c.2600C>A (p.Pro867Gln)
c.2666C>A (p.Pro889Gln)
c.2663C>A (p.Pro888Gln)
c.2636C>A (p.Pro879Gln)
c.2582C>A (p.Pro861Gln)
c.2555C>A (p.Pro852Gln)
c.2540C>A (p.Pro847Gln)
c.2147C>A (p.Pro716Gln)
c.2609C>A (p.Pro870Gln)
c.2546C>A (p.Pro849Gln)
c.2543C>A (p.Pro848Gln)
c.2501C>A (p.Pro834Gln)
c.1574C>A (p.Pro525Gln)
 gnomAD v4
20g.63406705_63406706insCCCA2545776156KCNQ2c.2611_2612insGG (p.Pro871ArgfsTer?)
c.2557_2558insGG (p.Pro853ArgfsTer?)
c.1954_1955insGG (p.Pro652ArgfsTer?)
c.2464_2465insGG (p.Pro822ArgfsTer?)
c.2125_2126insGG (p.Pro709ArgfsTer?)
c.2473_2474insGG (p.Pro825ArgfsTer?)
c.2241+340_2241+341insGG (n.2241+340_2241+341insGG)
c.2205+340_2205+341insGG (n.2205+340_2205+341insGG)
c.2503_2504insGG (p.Pro835ArgfsTer?)
c.2133+340_2133+341insGG (n.2133+340_2133+341insGG)
c.1680-5863_1680-5862insGG (n.1680-5863_1680-5862insGG)
c.2599_2600insGG (p.Pro867ArgfsTer?)
c.2665_2666insGG (p.Pro889ArgfsTer?)
c.2662_2663insGG (p.Pro888ArgfsTer?)
c.2635_2636insGG (p.Pro879ArgfsTer?)
c.2581_2582insGG (p.Pro861ArgfsTer?)
c.2554_2555insGG (p.Pro852ArgfsTer?)
c.2539_2540insGG (p.Pro847ArgfsTer?)
c.2146_2147insGG (p.Pro716ArgfsTer?)
c.2608_2609insGG (p.Pro870ArgfsTer?)
c.2545_2546insGG (p.Pro849ArgfsTer?)
c.2542_2543insGG (p.Pro848ArgfsTer?)
c.2500_2501insGG (p.Pro834ArgfsTer?)
c.1573_1574insGG (p.Pro525ArgfsTer?)
20g.63406706G>ACA409636558KCNQ2c.2611C>T (p.Pro871Ser)
c.2557C>T (p.Pro853Ser)
c.1954C>T (p.Pro652Ser)
c.2464C>T (p.Pro822Ser)
c.2125C>T (p.Pro709Ser)
c.2473C>T (p.Pro825Ser)
c.2241+340C>T (n.2241+340C>T)
c.2205+340C>T (n.2205+340C>T)
c.2503C>T (p.Pro835Ser)
c.2133+340C>T (n.2133+340C>T)
c.1680-5863C>T (n.1680-5863C>T)
c.2599C>T (p.Pro867Ser)
c.2665C>T (p.Pro889Ser)
c.2662C>T (p.Pro888Ser)
c.2635C>T (p.Pro879Ser)
c.2581C>T (p.Pro861Ser)
c.2554C>T (p.Pro852Ser)
c.2539C>T (p.Pro847Ser)
c.2146C>T (p.Pro716Ser)
c.2608C>T (p.Pro870Ser)
c.2545C>T (p.Pro849Ser)
c.2542C>T (p.Pro848Ser)
c.2500C>T (p.Pro834Ser)
c.1573C>T (p.Pro525Ser)
 gnomAD v4
20g.63406706G>CCA409636560KCNQ2c.2611C>G (p.Pro871Ala)
c.2557C>G (p.Pro853Ala)
c.1954C>G (p.Pro652Ala)
c.2464C>G (p.Pro822Ala)
c.2125C>G (p.Pro709Ala)
c.2473C>G (p.Pro825Ala)
c.2241+340C>G (n.2241+340C>G)
c.2205+340C>G (n.2205+340C>G)
c.2503C>G (p.Pro835Ala)
c.2133+340C>G (n.2133+340C>G)
c.1680-5863C>G (n.1680-5863C>G)
c.2599C>G (p.Pro867Ala)
c.2665C>G (p.Pro889Ala)
c.2662C>G (p.Pro888Ala)
c.2635C>G (p.Pro879Ala)
c.2581C>G (p.Pro861Ala)
c.2554C>G (p.Pro852Ala)
c.2539C>G (p.Pro847Ala)
c.2146C>G (p.Pro716Ala)
c.2608C>G (p.Pro870Ala)
c.2545C>G (p.Pro849Ala)
c.2542C>G (p.Pro848Ala)
c.2500C>G (p.Pro834Ala)
c.1573C>G (p.Pro525Ala)
20g.63406706G>TCA409636562KCNQ2c.2611C>A (p.Pro871Thr)
c.2557C>A (p.Pro853Thr)
c.1954C>A (p.Pro652Thr)
c.2464C>A (p.Pro822Thr)
c.2125C>A (p.Pro709Thr)
c.2473C>A (p.Pro825Thr)
c.2241+340C>A (n.2241+340C>A)
c.2205+340C>A (n.2205+340C>A)
c.2503C>A (p.Pro835Thr)
c.2133+340C>A (n.2133+340C>A)
c.1680-5863C>A (n.1680-5863C>A)
c.2599C>A (p.Pro867Thr)
c.2665C>A (p.Pro889Thr)
c.2662C>A (p.Pro888Thr)
c.2635C>A (p.Pro879Thr)
c.2581C>A (p.Pro861Thr)
c.2554C>A (p.Pro852Thr)
c.2539C>A (p.Pro847Thr)
c.2146C>A (p.Pro716Thr)
c.2608C>A (p.Pro870Thr)
c.2545C>A (p.Pro849Thr)
c.2542C>A (p.Pro848Thr)
c.2500C>A (p.Pro834Thr)
c.1573C>A (p.Pro525Thr)
20g.63406706_63406707insTACCCGCCA2499225798KCNQ2c.2610_2611insGCGGGTA (p.Pro871AlafsTer14)
c.2556_2557insGCGGGTA (p.Pro853AlafsTer14)
c.1953_1954insGCGGGTA (p.Pro652AlafsTer14)
c.2463_2464insGCGGGTA (p.Pro822AlafsTer14)
c.2124_2125insGCGGGTA (p.Pro709AlafsTer14)
c.2472_2473insGCGGGTA (p.Pro825AlafsTer14)
c.2241+339_2241+340insGCGGGTA (n.2241+339_2241+340insGCGGGTA)
c.2205+339_2205+340insGCGGGTA (n.2205+339_2205+340insGCGGGTA)
c.2502_2503insGCGGGTA (p.Pro835AlafsTer14)
c.2133+339_2133+340insGCGGGTA (n.2133+339_2133+340insGCGGGTA)
c.1680-5864_1680-5863insGCGGGTA (n.1680-5864_1680-5863insGCGGGTA)
c.2598_2599insGCGGGTA (p.Pro867AlafsTer14)
c.2664_2665insGCGGGTA (p.Pro889AlafsTer14)
c.2661_2662insGCGGGTA (p.Pro888AlafsTer14)
c.2634_2635insGCGGGTA (p.Pro879AlafsTer14)
c.2580_2581insGCGGGTA (p.Pro861AlafsTer14)
c.2553_2554insGCGGGTA (p.Pro852AlafsTer14)
c.2538_2539insGCGGGTA (p.Pro847AlafsTer14)
c.2145_2146insGCGGGTA (p.Pro716AlafsTer14)
c.2607_2608insGCGGGTA (p.Pro870AlafsTer14)
c.2544_2545insGCGGGTA (p.Pro849AlafsTer14)
c.2541_2542insGCGGGTA (p.Pro848AlafsTer14)
c.2499_2500insGCGGGTA (p.Pro834AlafsTer14)
c.1572_1573insGCGGGTA (p.Pro525AlafsTer14)
 dbSNP
20g.63406707C>ACA511339207KCNQ2c.2610G>T (p.Pro870=)
c.2556G>T (p.Pro852=)
c.1953G>T (p.Pro651=)
c.2463G>T (p.Pro821=)
c.2124G>T (p.Pro708=)
c.2472G>T (p.Pro824=)
c.2241+339G>T (n.2241+339G>T)
c.2205+339G>T (n.2205+339G>T)
c.2502G>T (p.Pro834=)
c.2133+339G>T (n.2133+339G>T)
c.1680-5864G>T (n.1680-5864G>T)
c.2598G>T (p.Pro866=)
c.2664G>T (p.Pro888=)
c.2661G>T (p.Pro887=)
c.2634G>T (p.Pro878=)
c.2580G>T (p.Pro860=)
c.2553G>T (p.Pro851=)
c.2538G>T (p.Pro846=)
c.2145G>T (p.Pro715=)
c.2607G>T (p.Pro869=)
c.2544G>T (p.Pro848=)
c.2541G>T (p.Pro847=)
c.2499G>T (p.Pro833=)
c.1572G>T (p.Pro524=)
 gnomAD v4
20g.63406707C=CA2374774208KCNQ2c.2610G= (p.Pro870=)
c.2556G= (p.Pro852=)
c.1953G= (p.Pro651=)
c.2463G= (p.Pro821=)
c.2124G= (p.Pro708=)
c.2472G= (p.Pro824=)
c.2241+339G= (n.2241+339G=)
c.2205+339G= (n.2205+339G=)
c.2502G= (p.Pro834=)
c.2133+339G= (n.2133+339G=)
c.1680-5864G= (n.1680-5864G=)
c.2598G= (p.Pro866=)
c.2664G= (p.Pro888=)
c.2661G= (p.Pro887=)
c.2634G= (p.Pro878=)
c.2580G= (p.Pro860=)
c.2553G= (p.Pro851=)
c.2538G= (p.Pro846=)
c.2145G= (p.Pro715=)
c.2607G= (p.Pro869=)
c.2544G= (p.Pro848=)
c.2541G= (p.Pro847=)
c.2499G= (p.Pro833=)
c.1572G= (p.Pro524=)
20g.63406707C>GCA511339208KCNQ2c.2610G>C (p.Pro870=)
c.2556G>C (p.Pro852=)
c.1953G>C (p.Pro651=)
c.2463G>C (p.Pro821=)
c.2124G>C (p.Pro708=)
c.2472G>C (p.Pro824=)
c.2241+339G>C (n.2241+339G>C)
c.2205+339G>C (n.2205+339G>C)
c.2502G>C (p.Pro834=)
c.2133+339G>C (n.2133+339G>C)
c.1680-5864G>C (n.1680-5864G>C)
c.2598G>C (p.Pro866=)
c.2664G>C (p.Pro888=)
c.2661G>C (p.Pro887=)
c.2634G>C (p.Pro878=)
c.2580G>C (p.Pro860=)
c.2553G>C (p.Pro851=)
c.2538G>C (p.Pro846=)
c.2145G>C (p.Pro715=)
c.2607G>C (p.Pro869=)
c.2544G>C (p.Pro848=)
c.2541G>C (p.Pro847=)
c.2499G>C (p.Pro833=)
c.1572G>C (p.Pro524=)
 gnomAD v4
20g.63406707C>TCA291821KCNQ2c.2610G>A (p.Pro870=)
c.2556G>A (p.Pro852=)
c.1953G>A (p.Pro651=)
c.2463G>A (p.Pro821=)
c.2124G>A (p.Pro708=)
c.2472G>A (p.Pro824=)
c.2241+339G>A (n.2241+339G>A)
c.2205+339G>A (n.2205+339G>A)
c.2502G>A (p.Pro834=)
c.2133+339G>A (n.2133+339G>A)
c.1680-5864G>A (n.1680-5864G>A)
c.2598G>A (p.Pro866=)
c.2664G>A (p.Pro888=)
c.2661G>A (p.Pro887=)
c.2634G>A (p.Pro878=)
c.2580G>A (p.Pro860=)
c.2553G>A (p.Pro851=)
c.2538G>A (p.Pro846=)
c.2145G>A (p.Pro715=)
c.2607G>A (p.Pro869=)
c.2544G>A (p.Pro848=)
c.2541G>A (p.Pro847=)
c.2499G>A (p.Pro833=)
c.1572G>A (p.Pro524=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63406707_63406708delinsCGCA2374774209KCNQ2c.2609_2610delinsCG (p.Pro870=)
c.2555_2556delinsCG (p.Pro852=)
c.1952_1953delinsCG (p.Pro651=)
c.2462_2463delinsCG (p.Pro821=)
c.2123_2124delinsCG (p.Pro708=)
c.2471_2472delinsCG (p.Pro824=)
c.2241+338_2241+339delinsCG (n.2241+338_2241+339delinsCG)
c.2205+338_2205+339delinsCG (n.2205+338_2205+339delinsCG)
c.2501_2502delinsCG (p.Pro834=)
c.2133+338_2133+339delinsCG (n.2133+338_2133+339delinsCG)
c.1680-5865_1680-5864delinsCG (n.1680-5865_1680-5864delinsCG)
c.2597_2598delinsCG (p.Pro866=)
c.2663_2664delinsCG (p.Pro888=)
c.2660_2661delinsCG (p.Pro887=)
c.2633_2634delinsCG (p.Pro878=)
c.2579_2580delinsCG (p.Pro860=)
c.2552_2553delinsCG (p.Pro851=)
c.2537_2538delinsCG (p.Pro846=)
c.2144_2145delinsCG (p.Pro715=)
c.2606_2607delinsCG (p.Pro869=)
c.2543_2544delinsCG (p.Pro848=)
c.2540_2541delinsCG (p.Pro847=)
c.2498_2499delinsCG (p.Pro833=)
c.1571_1572delinsCG (p.Pro524=)
20g.63406708G>ACA315536KCNQ2c.2609C>T (p.Pro870Leu)
c.2555C>T (p.Pro852Leu)
c.1952C>T (p.Pro651Leu)
c.2462C>T (p.Pro821Leu)
c.2123C>T (p.Pro708Leu)
c.2471C>T (p.Pro824Leu)
c.2241+338C>T (n.2241+338C>T)
c.2205+338C>T (n.2205+338C>T)
c.2501C>T (p.Pro834Leu)
c.2133+338C>T (n.2133+338C>T)
c.1680-5865C>T (n.1680-5865C>T)
c.2597C>T (p.Pro866Leu)
c.2663C>T (p.Pro888Leu)
c.2660C>T (p.Pro887Leu)
c.2633C>T (p.Pro878Leu)
c.2579C>T (p.Pro860Leu)
c.2552C>T (p.Pro851Leu)
c.2537C>T (p.Pro846Leu)
c.2144C>T (p.Pro715Leu)
c.2606C>T (p.Pro869Leu)
c.2543C>T (p.Pro848Leu)
c.2540C>T (p.Pro847Leu)
c.2498C>T (p.Pro833Leu)
c.1571C>T (p.Pro524Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406708G>CCA409636564KCNQ2c.2609C>G (p.Pro870Arg)
c.2555C>G (p.Pro852Arg)
c.1952C>G (p.Pro651Arg)
c.2462C>G (p.Pro821Arg)
c.2123C>G (p.Pro708Arg)
c.2471C>G (p.Pro824Arg)
c.2241+338C>G (n.2241+338C>G)
c.2205+338C>G (n.2205+338C>G)
c.2501C>G (p.Pro834Arg)
c.2133+338C>G (n.2133+338C>G)
c.1680-5865C>G (n.1680-5865C>G)
c.2597C>G (p.Pro866Arg)
c.2663C>G (p.Pro888Arg)
c.2660C>G (p.Pro887Arg)
c.2633C>G (p.Pro878Arg)
c.2579C>G (p.Pro860Arg)
c.2552C>G (p.Pro851Arg)
c.2537C>G (p.Pro846Arg)
c.2144C>G (p.Pro715Arg)
c.2606C>G (p.Pro869Arg)
c.2543C>G (p.Pro848Arg)
c.2540C>G (p.Pro847Arg)
c.2498C>G (p.Pro833Arg)
c.1571C>G (p.Pro524Arg)
20g.63406708G=CA2374774210KCNQ2c.2609C= (p.Pro870=)
c.2555C= (p.Pro852=)
c.1952C= (p.Pro651=)
c.2462C= (p.Pro821=)
c.2123C= (p.Pro708=)
c.2471C= (p.Pro824=)
c.2241+338C= (n.2241+338C=)
c.2205+338C= (n.2205+338C=)
c.2501C= (p.Pro834=)
c.2133+338C= (n.2133+338C=)
c.1680-5865C= (n.1680-5865C=)
c.2597C= (p.Pro866=)
c.2663C= (p.Pro888=)
c.2660C= (p.Pro887=)
c.2633C= (p.Pro878=)
c.2579C= (p.Pro860=)
c.2552C= (p.Pro851=)
c.2537C= (p.Pro846=)
c.2144C= (p.Pro715=)
c.2606C= (p.Pro869=)
c.2543C= (p.Pro848=)
c.2540C= (p.Pro847=)
c.2498C= (p.Pro833=)
c.1571C= (p.Pro524=)
20g.63406708G>TCA409636566KCNQ2c.2609C>A (p.Pro870Gln)
c.2555C>A (p.Pro852Gln)
c.1952C>A (p.Pro651Gln)
c.2462C>A (p.Pro821Gln)
c.2123C>A (p.Pro708Gln)
c.2471C>A (p.Pro824Gln)
c.2241+338C>A (n.2241+338C>A)
c.2205+338C>A (n.2205+338C>A)
c.2501C>A (p.Pro834Gln)
c.2133+338C>A (n.2133+338C>A)
c.1680-5865C>A (n.1680-5865C>A)
c.2597C>A (p.Pro866Gln)
c.2663C>A (p.Pro888Gln)
c.2660C>A (p.Pro887Gln)
c.2633C>A (p.Pro878Gln)
c.2579C>A (p.Pro860Gln)
c.2552C>A (p.Pro851Gln)
c.2537C>A (p.Pro846Gln)
c.2144C>A (p.Pro715Gln)
c.2606C>A (p.Pro869Gln)
c.2543C>A (p.Pro848Gln)
c.2540C>A (p.Pro847Gln)
c.2498C>A (p.Pro833Gln)
c.1571C>A (p.Pro524Gln)
 gnomAD v4
20g.63406712dupCA2580098388KCNQ2c.2609dup (p.Pro871AlafsTer12)
c.2555dup (p.Pro853AlafsTer12)
c.1952dup (p.Pro652AlafsTer12)
c.2462dup (p.Pro822AlafsTer12)
c.2123dup (p.Pro709AlafsTer12)
c.2471dup (p.Pro825AlafsTer12)
c.2241+338dup (n.2241+338dup)
c.2205+338dup (n.2205+338dup)
c.2501dup (p.Pro835AlafsTer12)
c.2133+338dup (n.2133+338dup)
c.1680-5865dup (n.1680-5865dup)
c.2597dup (p.Pro867AlafsTer12)
c.2663dup (p.Pro889AlafsTer12)
c.2660dup (p.Pro888AlafsTer12)
c.2633dup (p.Pro879AlafsTer12)
c.2579dup (p.Pro861AlafsTer12)
c.2552dup (p.Pro852AlafsTer12)
c.2537dup (p.Pro847AlafsTer12)
c.2144dup (p.Pro716AlafsTer12)
c.2606dup (p.Pro870AlafsTer12)
c.2543dup (p.Pro849AlafsTer12)
c.2540dup (p.Pro848AlafsTer12)
c.2498dup (p.Pro834AlafsTer12)
c.1571dup (p.Pro525AlafsTer12)
 ClinVar
20g.63406712delCA16620959KCNQ2c.2609del (p.Pro870ArgfsTer?)
c.2555del (p.Pro852ArgfsTer?)
c.1952del (p.Pro651ArgfsTer?)
c.2462del (p.Pro821ArgfsTer?)
c.2123del (p.Pro708ArgfsTer?)
c.2471del (p.Pro824ArgfsTer?)
c.2241+338del (n.2241+338del)
c.2205+338del (n.2205+338del)
c.2501del (p.Pro834ArgfsTer?)
c.2133+338del (n.2133+338del)
c.1680-5865del (n.1680-5865del)
c.2597del (p.Pro866ArgfsTer?)
c.2663del (p.Pro888ArgfsTer?)
c.2660del (p.Pro887ArgfsTer?)
c.2633del (p.Pro878ArgfsTer?)
c.2579del (p.Pro860ArgfsTer?)
c.2552del (p.Pro851ArgfsTer?)
c.2537del (p.Pro846ArgfsTer?)
c.2144del (p.Pro715ArgfsTer?)
c.2606del (p.Pro869ArgfsTer?)
c.2543del (p.Pro848ArgfsTer?)
c.2540del (p.Pro847ArgfsTer?)
c.2498del (p.Pro833ArgfsTer?)
c.1571del (p.Pro524ArgfsTer?)
 ClinVar dbSNP gnomAD v4
20g.63406708_63406709insCCAATCCA2557562509KCNQ2c.2608_2609insGATTGG (p.Pro870delinsArgLeuAla)
c.2554_2555insGATTGG (p.Pro852delinsArgLeuAla)
c.1951_1952insGATTGG (p.Pro651delinsArgLeuAla)
c.2461_2462insGATTGG (p.Pro821delinsArgLeuAla)
c.2122_2123insGATTGG (p.Pro708delinsArgLeuAla)
c.2470_2471insGATTGG (p.Pro824delinsArgLeuAla)
c.2241+337_2241+338insGATTGG (n.2241+337_2241+338insGATTGG)
c.2205+337_2205+338insGATTGG (n.2205+337_2205+338insGATTGG)
c.2500_2501insGATTGG (p.Pro834delinsArgLeuAla)
c.2133+337_2133+338insGATTGG (n.2133+337_2133+338insGATTGG)
c.1680-5866_1680-5865insGATTGG (n.1680-5866_1680-5865insGATTGG)
c.2596_2597insGATTGG (p.Pro866delinsArgLeuAla)
c.2662_2663insGATTGG (p.Pro888delinsArgLeuAla)
c.2659_2660insGATTGG (p.Pro887delinsArgLeuAla)
c.2632_2633insGATTGG (p.Pro878delinsArgLeuAla)
c.2578_2579insGATTGG (p.Pro860delinsArgLeuAla)
c.2551_2552insGATTGG (p.Pro851delinsArgLeuAla)
c.2536_2537insGATTGG (p.Pro846delinsArgLeuAla)
c.2143_2144insGATTGG (p.Pro715delinsArgLeuAla)
c.2605_2606insGATTGG (p.Pro869delinsArgLeuAla)
c.2542_2543insGATTGG (p.Pro848delinsArgLeuAla)
c.2539_2540insGATTGG (p.Pro847delinsArgLeuAla)
c.2497_2498insGATTGG (p.Pro833delinsArgLeuAla)
c.1570_1571insGATTGG (p.Pro524delinsArgLeuAla)
20g.63406709G>ACA409636569KCNQ2c.2608C>T (p.Pro870Ser)
c.2554C>T (p.Pro852Ser)
c.1951C>T (p.Pro651Ser)
c.2461C>T (p.Pro821Ser)
c.2122C>T (p.Pro708Ser)
c.2470C>T (p.Pro824Ser)
c.2241+337C>T (n.2241+337C>T)
c.2205+337C>T (n.2205+337C>T)
c.2500C>T (p.Pro834Ser)
c.2133+337C>T (n.2133+337C>T)
c.1680-5866C>T (n.1680-5866C>T)
c.2596C>T (p.Pro866Ser)
c.2662C>T (p.Pro888Ser)
c.2659C>T (p.Pro887Ser)
c.2632C>T (p.Pro878Ser)
c.2578C>T (p.Pro860Ser)
c.2551C>T (p.Pro851Ser)
c.2536C>T (p.Pro846Ser)
c.2143C>T (p.Pro715Ser)
c.2605C>T (p.Pro869Ser)
c.2542C>T (p.Pro848Ser)
c.2539C>T (p.Pro847Ser)
c.2497C>T (p.Pro833Ser)
c.1570C>T (p.Pro524Ser)
20g.63406709G>CCA409636571KCNQ2c.2608C>G (p.Pro870Ala)
c.2554C>G (p.Pro852Ala)
c.1951C>G (p.Pro651Ala)
c.2461C>G (p.Pro821Ala)
c.2122C>G (p.Pro708Ala)
c.2470C>G (p.Pro824Ala)
c.2241+337C>G (n.2241+337C>G)
c.2205+337C>G (n.2205+337C>G)
c.2500C>G (p.Pro834Ala)
c.2133+337C>G (n.2133+337C>G)
c.1680-5866C>G (n.1680-5866C>G)
c.2596C>G (p.Pro866Ala)
c.2662C>G (p.Pro888Ala)
c.2659C>G (p.Pro887Ala)
c.2632C>G (p.Pro878Ala)
c.2578C>G (p.Pro860Ala)
c.2551C>G (p.Pro851Ala)
c.2536C>G (p.Pro846Ala)
c.2143C>G (p.Pro715Ala)
c.2605C>G (p.Pro869Ala)
c.2542C>G (p.Pro848Ala)
c.2539C>G (p.Pro847Ala)
c.2497C>G (p.Pro833Ala)
c.1570C>G (p.Pro524Ala)
 dbSNP gnomAD v2 gnomAD v4
20g.63406709G=CA2374774211KCNQ2c.2608C= (p.Pro870=)
c.2554C= (p.Pro852=)
c.1951C= (p.Pro651=)
c.2461C= (p.Pro821=)
c.2122C= (p.Pro708=)
c.2470C= (p.Pro824=)
c.2241+337C= (n.2241+337C=)
c.2205+337C= (n.2205+337C=)
c.2500C= (p.Pro834=)
c.2133+337C= (n.2133+337C=)
c.1680-5866C= (n.1680-5866C=)
c.2596C= (p.Pro866=)
c.2662C= (p.Pro888=)
c.2659C= (p.Pro887=)
c.2632C= (p.Pro878=)
c.2578C= (p.Pro860=)
c.2551C= (p.Pro851=)
c.2536C= (p.Pro846=)
c.2143C= (p.Pro715=)
c.2605C= (p.Pro869=)
c.2542C= (p.Pro848=)
c.2539C= (p.Pro847=)
c.2497C= (p.Pro833=)
c.1570C= (p.Pro524=)
20g.63406709G>TCA409636573KCNQ2c.2608C>A (p.Pro870Thr)
c.2554C>A (p.Pro852Thr)
c.1951C>A (p.Pro651Thr)
c.2461C>A (p.Pro821Thr)
c.2122C>A (p.Pro708Thr)
c.2470C>A (p.Pro824Thr)
c.2241+337C>A (n.2241+337C>A)
c.2205+337C>A (n.2205+337C>A)
c.2500C>A (p.Pro834Thr)
c.2133+337C>A (n.2133+337C>A)
c.1680-5866C>A (n.1680-5866C>A)
c.2596C>A (p.Pro866Thr)
c.2662C>A (p.Pro888Thr)
c.2659C>A (p.Pro887Thr)
c.2632C>A (p.Pro878Thr)
c.2578C>A (p.Pro860Thr)
c.2551C>A (p.Pro851Thr)
c.2536C>A (p.Pro846Thr)
c.2143C>A (p.Pro715Thr)
c.2605C>A (p.Pro869Thr)
c.2542C>A (p.Pro848Thr)
c.2539C>A (p.Pro847Thr)
c.2497C>A (p.Pro833Thr)
c.1570C>A (p.Pro524Thr)
 gnomAD v4
20g.63406710G>ACA511339209KCNQ2c.2607C>T (p.Pro869=)
c.2553C>T (p.Pro851=)
c.1950C>T (p.Pro650=)
c.2460C>T (p.Pro820=)
c.2121C>T (p.Pro707=)
c.2469C>T (p.Pro823=)
c.2241+336C>T (n.2241+336C>T)
c.2205+336C>T (n.2205+336C>T)
c.2499C>T (p.Pro833=)
c.2133+336C>T (n.2133+336C>T)
c.1680-5867C>T (n.1680-5867C>T)
c.2595C>T (p.Pro865=)
c.2661C>T (p.Pro887=)
c.2658C>T (p.Pro886=)
c.2631C>T (p.Pro877=)
c.2577C>T (p.Pro859=)
c.2550C>T (p.Pro850=)
c.2535C>T (p.Pro845=)
c.2142C>T (p.Pro714=)
c.2604C>T (p.Pro868=)
c.2541C>T (p.Pro847=)
c.2538C>T (p.Pro846=)
c.2496C>T (p.Pro832=)
c.1569C>T (p.Pro523=)
 ClinVar dbSNP
20g.63406710G>CCA511339210KCNQ2c.2607C>G (p.Pro869=)
c.2553C>G (p.Pro851=)
c.1950C>G (p.Pro650=)
c.2460C>G (p.Pro820=)
c.2121C>G (p.Pro707=)
c.2469C>G (p.Pro823=)
c.2241+336C>G (n.2241+336C>G)
c.2205+336C>G (n.2205+336C>G)
c.2499C>G (p.Pro833=)
c.2133+336C>G (n.2133+336C>G)
c.1680-5867C>G (n.1680-5867C>G)
c.2595C>G (p.Pro865=)
c.2661C>G (p.Pro887=)
c.2658C>G (p.Pro886=)
c.2631C>G (p.Pro877=)
c.2577C>G (p.Pro859=)
c.2550C>G (p.Pro850=)
c.2535C>G (p.Pro845=)
c.2142C>G (p.Pro714=)
c.2604C>G (p.Pro868=)
c.2541C>G (p.Pro847=)
c.2538C>G (p.Pro846=)
c.2496C>G (p.Pro832=)
c.1569C>G (p.Pro523=)
20g.63406710G=CA2374774212KCNQ2c.2607C= (p.Pro869=)
c.2553C= (p.Pro851=)
c.1950C= (p.Pro650=)
c.2460C= (p.Pro820=)
c.2121C= (p.Pro707=)
c.2469C= (p.Pro823=)
c.2241+336C= (n.2241+336C=)
c.2205+336C= (n.2205+336C=)
c.2499C= (p.Pro833=)
c.2133+336C= (n.2133+336C=)
c.1680-5867C= (n.1680-5867C=)
c.2595C= (p.Pro865=)
c.2661C= (p.Pro887=)
c.2658C= (p.Pro886=)
c.2631C= (p.Pro877=)
c.2577C= (p.Pro859=)
c.2550C= (p.Pro850=)
c.2535C= (p.Pro845=)
c.2142C= (p.Pro714=)
c.2604C= (p.Pro868=)
c.2541C= (p.Pro847=)
c.2538C= (p.Pro846=)
c.2496C= (p.Pro832=)
c.1569C= (p.Pro523=)
20g.63406710G>TCA511339211KCNQ2c.2607C>A (p.Pro869=)
c.2553C>A (p.Pro851=)
c.1950C>A (p.Pro650=)
c.2460C>A (p.Pro820=)
c.2121C>A (p.Pro707=)
c.2469C>A (p.Pro823=)
c.2241+336C>A (n.2241+336C>A)
c.2205+336C>A (n.2205+336C>A)
c.2499C>A (p.Pro833=)
c.2133+336C>A (n.2133+336C>A)
c.1680-5867C>A (n.1680-5867C>A)
c.2595C>A (p.Pro865=)
c.2661C>A (p.Pro887=)
c.2658C>A (p.Pro886=)
c.2631C>A (p.Pro877=)
c.2577C>A (p.Pro859=)
c.2550C>A (p.Pro850=)
c.2535C>A (p.Pro845=)
c.2142C>A (p.Pro714=)
c.2604C>A (p.Pro868=)
c.2541C>A (p.Pro847=)
c.2538C>A (p.Pro846=)
c.2496C>A (p.Pro832=)
c.1569C>A (p.Pro523=)
 gnomAD v4
20g.63406710_63406711insAGGAGCGCTCACTGAAGAAGCCGTCCGTCACGATGTCGGAAAGCGCCTGAGAGTTCATCTCATAGGTCGCCGACA2551653830KCNQ2c.2606_2607insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro870ArgfsTer6)
c.2552_2553insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro852ArgfsTer6)
c.1949_1950insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro651ArgfsTer6)
c.2459_2460insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro821ArgfsTer6)
c.2120_2121insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro708ArgfsTer6)
c.2468_2469insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro824ArgfsTer6)
c.2241+335_2241+336insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (n.2241+335_2241+336insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT)
c.2205+335_2205+336insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (n.2205+335_2205+336insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT)
c.2498_2499insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro834ArgfsTer6)
c.2133+335_2133+336insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (n.2133+335_2133+336insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT)
c.1680-5868_1680-5867insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (n.1680-5868_1680-5867insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT)
c.2594_2595insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro866ArgfsTer6)
c.2660_2661insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro888ArgfsTer6)
c.2657_2658insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro887ArgfsTer6)
c.2630_2631insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro878ArgfsTer6)
c.2576_2577insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro860ArgfsTer6)
c.2549_2550insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro851ArgfsTer6)
c.2534_2535insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro846ArgfsTer6)
c.2141_2142insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro715ArgfsTer6)
c.2603_2604insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro869ArgfsTer6)
c.2540_2541insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro848ArgfsTer6)
c.2537_2538insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro847ArgfsTer6)
c.2495_2496insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro833ArgfsTer6)
c.1568_1569insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro524ArgfsTer6)
20g.63406711G>ACA409636574KCNQ2c.2606C>T (p.Pro869Leu)
c.2552C>T (p.Pro851Leu)
c.1949C>T (p.Pro650Leu)
c.2459C>T (p.Pro820Leu)
c.2120C>T (p.Pro707Leu)
c.2468C>T (p.Pro823Leu)
c.2241+335C>T (n.2241+335C>T)
c.2205+335C>T (n.2205+335C>T)
c.2498C>T (p.Pro833Leu)
c.2133+335C>T (n.2133+335C>T)
c.1680-5868C>T (n.1680-5868C>T)
c.2594C>T (p.Pro865Leu)
c.2660C>T (p.Pro887Leu)
c.2657C>T (p.Pro886Leu)
c.2630C>T (p.Pro877Leu)
c.2576C>T (p.Pro859Leu)
c.2549C>T (p.Pro850Leu)
c.2534C>T (p.Pro845Leu)
c.2141C>T (p.Pro714Leu)
c.2603C>T (p.Pro868Leu)
c.2540C>T (p.Pro847Leu)
c.2537C>T (p.Pro846Leu)
c.2495C>T (p.Pro832Leu)
c.1568C>T (p.Pro523Leu)
20g.63406711G>CCA409636575KCNQ2c.2606C>G (p.Pro869Arg)
c.2552C>G (p.Pro851Arg)
c.1949C>G (p.Pro650Arg)
c.2459C>G (p.Pro820Arg)
c.2120C>G (p.Pro707Arg)
c.2468C>G (p.Pro823Arg)
c.2241+335C>G (n.2241+335C>G)
c.2205+335C>G (n.2205+335C>G)
c.2498C>G (p.Pro833Arg)
c.2133+335C>G (n.2133+335C>G)
c.1680-5868C>G (n.1680-5868C>G)
c.2594C>G (p.Pro865Arg)
c.2660C>G (p.Pro887Arg)
c.2657C>G (p.Pro886Arg)
c.2630C>G (p.Pro877Arg)
c.2576C>G (p.Pro859Arg)
c.2549C>G (p.Pro850Arg)
c.2534C>G (p.Pro845Arg)
c.2141C>G (p.Pro714Arg)
c.2603C>G (p.Pro868Arg)
c.2540C>G (p.Pro847Arg)
c.2537C>G (p.Pro846Arg)
c.2495C>G (p.Pro832Arg)
c.1568C>G (p.Pro523Arg)
20g.63406711G>TCA409636577KCNQ2c.2606C>A (p.Pro869His)
c.2552C>A (p.Pro851His)
c.1949C>A (p.Pro650His)
c.2459C>A (p.Pro820His)
c.2120C>A (p.Pro707His)
c.2468C>A (p.Pro823His)
c.2241+335C>A (n.2241+335C>A)
c.2205+335C>A (n.2205+335C>A)
c.2498C>A (p.Pro833His)
c.2133+335C>A (n.2133+335C>A)
c.1680-5868C>A (n.1680-5868C>A)
c.2594C>A (p.Pro865His)
c.2660C>A (p.Pro887His)
c.2657C>A (p.Pro886His)
c.2630C>A (p.Pro877His)
c.2576C>A (p.Pro859His)
c.2549C>A (p.Pro850His)
c.2534C>A (p.Pro845His)
c.2141C>A (p.Pro714His)
c.2603C>A (p.Pro868His)
c.2540C>A (p.Pro847His)
c.2537C>A (p.Pro846His)
c.2495C>A (p.Pro832His)
c.1568C>A (p.Pro523His)
20g.63406712G>ACA409636579KCNQ2c.2605C>T (p.Pro869Ser)
c.2551C>T (p.Pro851Ser)
c.1948C>T (p.Pro650Ser)
c.2458C>T (p.Pro820Ser)
c.2119C>T (p.Pro707Ser)
c.2467C>T (p.Pro823Ser)
c.2241+334C>T (n.2241+334C>T)
c.2205+334C>T (n.2205+334C>T)
c.2497C>T (p.Pro833Ser)
c.2133+334C>T (n.2133+334C>T)
c.1680-5869C>T (n.1680-5869C>T)
c.2593C>T (p.Pro865Ser)
c.2659C>T (p.Pro887Ser)
c.2656C>T (p.Pro886Ser)
c.2629C>T (p.Pro877Ser)
c.2575C>T (p.Pro859Ser)
c.2548C>T (p.Pro850Ser)
c.2533C>T (p.Pro845Ser)
c.2140C>T (p.Pro714Ser)
c.2602C>T (p.Pro868Ser)
c.2539C>T (p.Pro847Ser)
c.2536C>T (p.Pro846Ser)
c.2494C>T (p.Pro832Ser)
c.1567C>T (p.Pro523Ser)
20g.63406712G>CCA409636580KCNQ2c.2605C>G (p.Pro869Ala)
c.2551C>G (p.Pro851Ala)
c.1948C>G (p.Pro650Ala)
c.2458C>G (p.Pro820Ala)
c.2119C>G (p.Pro707Ala)
c.2467C>G (p.Pro823Ala)
c.2241+334C>G (n.2241+334C>G)
c.2205+334C>G (n.2205+334C>G)
c.2497C>G (p.Pro833Ala)
c.2133+334C>G (n.2133+334C>G)
c.1680-5869C>G (n.1680-5869C>G)
c.2593C>G (p.Pro865Ala)
c.2659C>G (p.Pro887Ala)
c.2656C>G (p.Pro886Ala)
c.2629C>G (p.Pro877Ala)
c.2575C>G (p.Pro859Ala)
c.2548C>G (p.Pro850Ala)
c.2533C>G (p.Pro845Ala)
c.2140C>G (p.Pro714Ala)
c.2602C>G (p.Pro868Ala)
c.2539C>G (p.Pro847Ala)
c.2536C>G (p.Pro846Ala)
c.2494C>G (p.Pro832Ala)
c.1567C>G (p.Pro523Ala)
 gnomAD v4
20g.63406712G>TCA409636583KCNQ2c.2605C>A (p.Pro869Thr)
c.2551C>A (p.Pro851Thr)
c.1948C>A (p.Pro650Thr)
c.2458C>A (p.Pro820Thr)
c.2119C>A (p.Pro707Thr)
c.2467C>A (p.Pro823Thr)
c.2241+334C>A (n.2241+334C>A)
c.2205+334C>A (n.2205+334C>A)
c.2497C>A (p.Pro833Thr)
c.2133+334C>A (n.2133+334C>A)
c.1680-5869C>A (n.1680-5869C>A)
c.2593C>A (p.Pro865Thr)
c.2659C>A (p.Pro887Thr)
c.2656C>A (p.Pro886Thr)
c.2629C>A (p.Pro877Thr)
c.2575C>A (p.Pro859Thr)
c.2548C>A (p.Pro850Thr)
c.2533C>A (p.Pro845Thr)
c.2140C>A (p.Pro714Thr)
c.2602C>A (p.Pro868Thr)
c.2539C>A (p.Pro847Thr)
c.2536C>A (p.Pro846Thr)
c.2494C>A (p.Pro832Thr)
c.1567C>A (p.Pro523Thr)
 gnomAD v4
20g.63406713C>ACA511339213KCNQ2c.2604G>T (p.Gly868=)
c.2550G>T (p.Gly850=)
c.1947G>T (p.Gly649=)
c.2457G>T (p.Gly819=)
c.2118G>T (p.Gly706=)
c.2466G>T (p.Gly822=)
c.2241+333G>T (n.2241+333G>T)
c.2205+333G>T (n.2205+333G>T)
c.2496G>T (p.Gly832=)
c.2133+333G>T (n.2133+333G>T)
c.1680-5870G>T (n.1680-5870G>T)
c.2592G>T (p.Gly864=)
c.2658G>T (p.Gly886=)
c.2655G>T (p.Gly885=)
c.2628G>T (p.Gly876=)
c.2574G>T (p.Gly858=)
c.2547G>T (p.Gly849=)
c.2532G>T (p.Gly844=)
c.2139G>T (p.Gly713=)
c.2601G>T (p.Gly867=)
c.2538G>T (p.Gly846=)
c.2535G>T (p.Gly845=)
c.2493G>T (p.Gly831=)
c.1566G>T (p.Gly522=)
 gnomAD v4
20g.63406713C=CA2374774213KCNQ2c.2604G= (p.Gly868=)
c.2550G= (p.Gly850=)
c.1947G= (p.Gly649=)
c.2457G= (p.Gly819=)
c.2118G= (p.Gly706=)
c.2466G= (p.Gly822=)
c.2241+333G= (n.2241+333G=)
c.2205+333G= (n.2205+333G=)
c.2496G= (p.Gly832=)
c.2133+333G= (n.2133+333G=)
c.1680-5870G= (n.1680-5870G=)
c.2592G= (p.Gly864=)
c.2658G= (p.Gly886=)
c.2655G= (p.Gly885=)
c.2628G= (p.Gly876=)
c.2574G= (p.Gly858=)
c.2547G= (p.Gly849=)
c.2532G= (p.Gly844=)
c.2139G= (p.Gly713=)
c.2601G= (p.Gly867=)
c.2538G= (p.Gly846=)
c.2535G= (p.Gly845=)
c.2493G= (p.Gly831=)
c.1566G= (p.Gly522=)
20g.63406713C>GCA9958058KCNQ2c.2604G>C (p.Gly868=)
c.2550G>C (p.Gly850=)
c.1947G>C (p.Gly649=)
c.2457G>C (p.Gly819=)
c.2118G>C (p.Gly706=)
c.2466G>C (p.Gly822=)
c.2241+333G>C (n.2241+333G>C)
c.2205+333G>C (n.2205+333G>C)
c.2496G>C (p.Gly832=)
c.2133+333G>C (n.2133+333G>C)
c.1680-5870G>C (n.1680-5870G>C)
c.2592G>C (p.Gly864=)
c.2658G>C (p.Gly886=)
c.2655G>C (p.Gly885=)
c.2628G>C (p.Gly876=)
c.2574G>C (p.Gly858=)
c.2547G>C (p.Gly849=)
c.2532G>C (p.Gly844=)
c.2139G>C (p.Gly713=)
c.2601G>C (p.Gly867=)
c.2538G>C (p.Gly846=)
c.2535G>C (p.Gly845=)
c.2493G>C (p.Gly831=)
c.1566G>C (p.Gly522=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406713C>TCA511339212KCNQ2c.2604G>A (p.Gly868=)
c.2550G>A (p.Gly850=)
c.1947G>A (p.Gly649=)
c.2457G>A (p.Gly819=)
c.2118G>A (p.Gly706=)
c.2466G>A (p.Gly822=)
c.2241+333G>A (n.2241+333G>A)
c.2205+333G>A (n.2205+333G>A)
c.2496G>A (p.Gly832=)
c.2133+333G>A (n.2133+333G>A)
c.1680-5870G>A (n.1680-5870G>A)
c.2592G>A (p.Gly864=)
c.2658G>A (p.Gly886=)
c.2655G>A (p.Gly885=)
c.2628G>A (p.Gly876=)
c.2574G>A (p.Gly858=)
c.2547G>A (p.Gly849=)
c.2532G>A (p.Gly844=)
c.2139G>A (p.Gly713=)
c.2601G>A (p.Gly867=)
c.2538G>A (p.Gly846=)
c.2535G>A (p.Gly845=)
c.2493G>A (p.Gly831=)
c.1566G>A (p.Gly522=)
 dbSNP gnomAD v2 gnomAD v4
20g.63406714C>ACA409636588KCNQ2c.2603G>T (p.Gly868Val)
c.2549G>T (p.Gly850Val)
c.1946G>T (p.Gly649Val)
c.2456G>T (p.Gly819Val)
c.2117G>T (p.Gly706Val)
c.2465G>T (p.Gly822Val)
c.2241+332G>T (n.2241+332G>T)
c.2205+332G>T (n.2205+332G>T)
c.2495G>T (p.Gly832Val)
c.2133+332G>T (n.2133+332G>T)
c.1680-5871G>T (n.1680-5871G>T)
c.2591G>T (p.Gly864Val)
c.2657G>T (p.Gly886Val)
c.2654G>T (p.Gly885Val)
c.2627G>T (p.Gly876Val)
c.2573G>T (p.Gly858Val)
c.2546G>T (p.Gly849Val)
c.2531G>T (p.Gly844Val)
c.2138G>T (p.Gly713Val)
c.2600G>T (p.Gly867Val)
c.2537G>T (p.Gly846Val)
c.2534G>T (p.Gly845Val)
c.2492G>T (p.Gly831Val)
c.1565G>T (p.Gly522Val)
20g.63406714C>GCA409636590KCNQ2c.2603G>C (p.Gly868Ala)
c.2549G>C (p.Gly850Ala)
c.1946G>C (p.Gly649Ala)
c.2456G>C (p.Gly819Ala)
c.2117G>C (p.Gly706Ala)
c.2465G>C (p.Gly822Ala)
c.2241+332G>C (n.2241+332G>C)
c.2205+332G>C (n.2205+332G>C)
c.2495G>C (p.Gly832Ala)
c.2133+332G>C (n.2133+332G>C)
c.1680-5871G>C (n.1680-5871G>C)
c.2591G>C (p.Gly864Ala)
c.2657G>C (p.Gly886Ala)
c.2654G>C (p.Gly885Ala)
c.2627G>C (p.Gly876Ala)
c.2573G>C (p.Gly858Ala)
c.2546G>C (p.Gly849Ala)
c.2531G>C (p.Gly844Ala)
c.2138G>C (p.Gly713Ala)
c.2600G>C (p.Gly867Ala)
c.2537G>C (p.Gly846Ala)
c.2534G>C (p.Gly845Ala)
c.2492G>C (p.Gly831Ala)
c.1565G>C (p.Gly522Ala)
20g.63406714C>TCA409636586KCNQ2c.2603G>A (p.Gly868Glu)
c.2549G>A (p.Gly850Glu)
c.1946G>A (p.Gly649Glu)
c.2456G>A (p.Gly819Glu)
c.2117G>A (p.Gly706Glu)
c.2465G>A (p.Gly822Glu)
c.2241+332G>A (n.2241+332G>A)
c.2205+332G>A (n.2205+332G>A)
c.2495G>A (p.Gly832Glu)
c.2133+332G>A (n.2133+332G>A)
c.1680-5871G>A (n.1680-5871G>A)
c.2591G>A (p.Gly864Glu)
c.2657G>A (p.Gly886Glu)
c.2654G>A (p.Gly885Glu)
c.2627G>A (p.Gly876Glu)
c.2573G>A (p.Gly858Glu)
c.2546G>A (p.Gly849Glu)
c.2531G>A (p.Gly844Glu)
c.2138G>A (p.Gly713Glu)
c.2600G>A (p.Gly867Glu)
c.2537G>A (p.Gly846Glu)
c.2534G>A (p.Gly845Glu)
c.2492G>A (p.Gly831Glu)
c.1565G>A (p.Gly522Glu)
20g.63406715C>ACA409636592KCNQ2c.2602G>T (p.Gly868Trp)
c.2548G>T (p.Gly850Trp)
c.1945G>T (p.Gly649Trp)
c.2455G>T (p.Gly819Trp)
c.2116G>T (p.Gly706Trp)
c.2464G>T (p.Gly822Trp)
c.2241+331G>T (n.2241+331G>T)
c.2205+331G>T (n.2205+331G>T)
c.2494G>T (p.Gly832Trp)
c.2133+331G>T (n.2133+331G>T)
c.1680-5872G>T (n.1680-5872G>T)
c.2590G>T (p.Gly864Trp)
c.2656G>T (p.Gly886Trp)
c.2653G>T (p.Gly885Trp)
c.2626G>T (p.Gly876Trp)
c.2572G>T (p.Gly858Trp)
c.2545G>T (p.Gly849Trp)
c.2530G>T (p.Gly844Trp)
c.2137G>T (p.Gly713Trp)
c.2599G>T (p.Gly867Trp)
c.2536G>T (p.Gly846Trp)
c.2533G>T (p.Gly845Trp)
c.2491G>T (p.Gly831Trp)
c.1564G>T (p.Gly522Trp)
20g.63406715C=CA2374774214KCNQ2c.2602G= (p.Gly868=)
c.2548G= (p.Gly850=)
c.1945G= (p.Gly649=)
c.2455G= (p.Gly819=)
c.2116G= (p.Gly706=)
c.2464G= (p.Gly822=)
c.2241+331G= (n.2241+331G=)
c.2205+331G= (n.2205+331G=)
c.2494G= (p.Gly832=)
c.2133+331G= (n.2133+331G=)
c.1680-5872G= (n.1680-5872G=)
c.2590G= (p.Gly864=)
c.2656G= (p.Gly886=)
c.2653G= (p.Gly885=)
c.2626G= (p.Gly876=)
c.2572G= (p.Gly858=)
c.2545G= (p.Gly849=)
c.2530G= (p.Gly844=)
c.2137G= (p.Gly713=)
c.2599G= (p.Gly867=)
c.2536G= (p.Gly846=)
c.2533G= (p.Gly845=)
c.2491G= (p.Gly831=)
c.1564G= (p.Gly522=)
20g.63406715C>GCA409636594KCNQ2c.2602G>C (p.Gly868Arg)
c.2548G>C (p.Gly850Arg)
c.1945G>C (p.Gly649Arg)
c.2455G>C (p.Gly819Arg)
c.2116G>C (p.Gly706Arg)
c.2464G>C (p.Gly822Arg)
c.2241+331G>C (n.2241+331G>C)
c.2205+331G>C (n.2205+331G>C)
c.2494G>C (p.Gly832Arg)
c.2133+331G>C (n.2133+331G>C)
c.1680-5872G>C (n.1680-5872G>C)
c.2590G>C (p.Gly864Arg)
c.2656G>C (p.Gly886Arg)
c.2653G>C (p.Gly885Arg)
c.2626G>C (p.Gly876Arg)
c.2572G>C (p.Gly858Arg)
c.2545G>C (p.Gly849Arg)
c.2530G>C (p.Gly844Arg)
c.2137G>C (p.Gly713Arg)
c.2599G>C (p.Gly867Arg)
c.2536G>C (p.Gly846Arg)
c.2533G>C (p.Gly845Arg)
c.2491G>C (p.Gly831Arg)
c.1564G>C (p.Gly522Arg)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
20g.63406715C>TCA9958059KCNQ2c.2602G>A (p.Gly868Arg)
c.2548G>A (p.Gly850Arg)
c.1945G>A (p.Gly649Arg)
c.2455G>A (p.Gly819Arg)
c.2116G>A (p.Gly706Arg)
c.2464G>A (p.Gly822Arg)
c.2241+331G>A (n.2241+331G>A)
c.2205+331G>A (n.2205+331G>A)
c.2494G>A (p.Gly832Arg)
c.2133+331G>A (n.2133+331G>A)
c.1680-5872G>A (n.1680-5872G>A)
c.2590G>A (p.Gly864Arg)
c.2656G>A (p.Gly886Arg)
c.2653G>A (p.Gly885Arg)
c.2626G>A (p.Gly876Arg)
c.2572G>A (p.Gly858Arg)
c.2545G>A (p.Gly849Arg)
c.2530G>A (p.Gly844Arg)
c.2137G>A (p.Gly713Arg)
c.2599G>A (p.Gly867Arg)
c.2536G>A (p.Gly846Arg)
c.2533G>A (p.Gly845Arg)
c.2491G>A (p.Gly831Arg)
c.1564G>A (p.Gly522Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63406716G>ACA9958060KCNQ2c.2601C>T (p.Cys867=)
c.2547C>T (p.Cys849=)
c.1944C>T (p.Cys648=)
c.2454C>T (p.Cys818=)
c.2115C>T (p.Cys705=)
c.2463C>T (p.Cys821=)
c.2241+330C>T (n.2241+330C>T)
c.2205+330C>T (n.2205+330C>T)
c.2493C>T (p.Cys831=)
c.2133+330C>T (n.2133+330C>T)
c.1680-5873C>T (n.1680-5873C>T)
c.2589C>T (p.Cys863=)
c.2655C>T (p.Cys885=)
c.2652C>T (p.Cys884=)
c.2625C>T (p.Cys875=)
c.2571C>T (p.Cys857=)
c.2544C>T (p.Cys848=)
c.2529C>T (p.Cys843=)
c.2136C>T (p.Cys712=)
c.2598C>T (p.Cys866=)
c.2535C>T (p.Cys845=)
c.2532C>T (p.Cys844=)
c.2490C>T (p.Cys830=)
c.1563C>T (p.Cys521=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406716G>CCA409636598KCNQ2c.2601C>G (p.Cys867Trp)
c.2547C>G (p.Cys849Trp)
c.1944C>G (p.Cys648Trp)
c.2454C>G (p.Cys818Trp)
c.2115C>G (p.Cys705Trp)
c.2463C>G (p.Cys821Trp)
c.2241+330C>G (n.2241+330C>G)
c.2205+330C>G (n.2205+330C>G)
c.2493C>G (p.Cys831Trp)
c.2133+330C>G (n.2133+330C>G)
c.1680-5873C>G (n.1680-5873C>G)
c.2589C>G (p.Cys863Trp)
c.2655C>G (p.Cys885Trp)
c.2652C>G (p.Cys884Trp)
c.2625C>G (p.Cys875Trp)
c.2571C>G (p.Cys857Trp)
c.2544C>G (p.Cys848Trp)
c.2529C>G (p.Cys843Trp)
c.2136C>G (p.Cys712Trp)
c.2598C>G (p.Cys866Trp)
c.2535C>G (p.Cys845Trp)
c.2532C>G (p.Cys844Trp)
c.2490C>G (p.Cys830Trp)
c.1563C>G (p.Cys521Trp)
 dbSNP gnomAD v2 gnomAD v4
20g.63406716G=CA2374774215KCNQ2c.2601C= (p.Cys867=)
c.2547C= (p.Cys849=)
c.1944C= (p.Cys648=)
c.2454C= (p.Cys818=)
c.2115C= (p.Cys705=)
c.2463C= (p.Cys821=)
c.2241+330C= (n.2241+330C=)
c.2205+330C= (n.2205+330C=)
c.2493C= (p.Cys831=)
c.2133+330C= (n.2133+330C=)
c.1680-5873C= (n.1680-5873C=)
c.2589C= (p.Cys863=)
c.2655C= (p.Cys885=)
c.2652C= (p.Cys884=)
c.2625C= (p.Cys875=)
c.2571C= (p.Cys857=)
c.2544C= (p.Cys848=)
c.2529C= (p.Cys843=)
c.2136C= (p.Cys712=)
c.2598C= (p.Cys866=)
c.2535C= (p.Cys845=)
c.2532C= (p.Cys844=)
c.2490C= (p.Cys830=)
c.1563C= (p.Cys521=)
20g.63406716G>TCA409636600KCNQ2c.2601C>A (p.Cys867Ter)
c.2547C>A (p.Cys849Ter)
c.1944C>A (p.Cys648Ter)
c.2454C>A (p.Cys818Ter)
c.2115C>A (p.Cys705Ter)
c.2463C>A (p.Cys821Ter)
c.2241+330C>A (n.2241+330C>A)
c.2205+330C>A (n.2205+330C>A)
c.2493C>A (p.Cys831Ter)
c.2133+330C>A (n.2133+330C>A)
c.1680-5873C>A (n.1680-5873C>A)
c.2589C>A (p.Cys863Ter)
c.2655C>A (p.Cys885Ter)
c.2652C>A (p.Cys884Ter)
c.2625C>A (p.Cys875Ter)
c.2571C>A (p.Cys857Ter)
c.2544C>A (p.Cys848Ter)
c.2529C>A (p.Cys843Ter)
c.2136C>A (p.Cys712Ter)
c.2598C>A (p.Cys866Ter)
c.2535C>A (p.Cys845Ter)
c.2532C>A (p.Cys844Ter)
c.2490C>A (p.Cys830Ter)
c.1563C>A (p.Cys521Ter)
 gnomAD v4
20g.63406717C>ACA9958061KCNQ2c.2600G>T (p.Cys867Phe)
c.2546G>T (p.Cys849Phe)
c.1943G>T (p.Cys648Phe)
c.2453G>T (p.Cys818Phe)
c.2114G>T (p.Cys705Phe)
c.2462G>T (p.Cys821Phe)
c.2241+329G>T (n.2241+329G>T)
c.2205+329G>T (n.2205+329G>T)
c.2492G>T (p.Cys831Phe)
c.2133+329G>T (n.2133+329G>T)
c.1680-5874G>T (n.1680-5874G>T)
c.2588G>T (p.Cys863Phe)
c.2654G>T (p.Cys885Phe)
c.2651G>T (p.Cys884Phe)
c.2624G>T (p.Cys875Phe)
c.2570G>T (p.Cys857Phe)
c.2543G>T (p.Cys848Phe)
c.2528G>T (p.Cys843Phe)
c.2135G>T (p.Cys712Phe)
c.2597G>T (p.Cys866Phe)
c.2534G>T (p.Cys845Phe)
c.2531G>T (p.Cys844Phe)
c.2489G>T (p.Cys830Phe)
c.1562G>T (p.Cys521Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406717C=CA2374774216KCNQ2c.2600G= (p.Cys867=)
c.2546G= (p.Cys849=)
c.1943G= (p.Cys648=)
c.2453G= (p.Cys818=)
c.2114G= (p.Cys705=)
c.2462G= (p.Cys821=)
c.2241+329G= (n.2241+329G=)
c.2205+329G= (n.2205+329G=)
c.2492G= (p.Cys831=)
c.2133+329G= (n.2133+329G=)
c.1680-5874G= (n.1680-5874G=)
c.2588G= (p.Cys863=)
c.2654G= (p.Cys885=)
c.2651G= (p.Cys884=)
c.2624G= (p.Cys875=)
c.2570G= (p.Cys857=)
c.2543G= (p.Cys848=)
c.2528G= (p.Cys843=)
c.2135G= (p.Cys712=)
c.2597G= (p.Cys866=)
c.2534G= (p.Cys845=)
c.2531G= (p.Cys844=)
c.2489G= (p.Cys830=)
c.1562G= (p.Cys521=)
20g.63406717C>GCA409636605KCNQ2c.2600G>C (p.Cys867Ser)
c.2546G>C (p.Cys849Ser)
c.1943G>C (p.Cys648Ser)
c.2453G>C (p.Cys818Ser)
c.2114G>C (p.Cys705Ser)
c.2462G>C (p.Cys821Ser)
c.2241+329G>C (n.2241+329G>C)
c.2205+329G>C (n.2205+329G>C)
c.2492G>C (p.Cys831Ser)
c.2133+329G>C (n.2133+329G>C)
c.1680-5874G>C (n.1680-5874G>C)
c.2588G>C (p.Cys863Ser)
c.2654G>C (p.Cys885Ser)
c.2651G>C (p.Cys884Ser)
c.2624G>C (p.Cys875Ser)
c.2570G>C (p.Cys857Ser)
c.2543G>C (p.Cys848Ser)
c.2528G>C (p.Cys843Ser)
c.2135G>C (p.Cys712Ser)
c.2597G>C (p.Cys866Ser)
c.2534G>C (p.Cys845Ser)
c.2531G>C (p.Cys844Ser)
c.2489G>C (p.Cys830Ser)
c.1562G>C (p.Cys521Ser)
20g.63406717C>TCA409636603KCNQ2c.2600G>A (p.Cys867Tyr)
c.2546G>A (p.Cys849Tyr)
c.1943G>A (p.Cys648Tyr)
c.2453G>A (p.Cys818Tyr)
c.2114G>A (p.Cys705Tyr)
c.2462G>A (p.Cys821Tyr)
c.2241+329G>A (n.2241+329G>A)
c.2205+329G>A (n.2205+329G>A)
c.2492G>A (p.Cys831Tyr)
c.2133+329G>A (n.2133+329G>A)
c.1680-5874G>A (n.1680-5874G>A)
c.2588G>A (p.Cys863Tyr)
c.2654G>A (p.Cys885Tyr)
c.2651G>A (p.Cys884Tyr)
c.2624G>A (p.Cys875Tyr)
c.2570G>A (p.Cys857Tyr)
c.2543G>A (p.Cys848Tyr)
c.2528G>A (p.Cys843Tyr)
c.2135G>A (p.Cys712Tyr)
c.2597G>A (p.Cys866Tyr)
c.2534G>A (p.Cys845Tyr)
c.2531G>A (p.Cys844Tyr)
c.2489G>A (p.Cys830Tyr)
c.1562G>A (p.Cys521Tyr)
20g.63406718A>CCA409636608KCNQ2c.2599T>G (p.Cys867Gly)
c.2545T>G (p.Cys849Gly)
c.1942T>G (p.Cys648Gly)
c.2452T>G (p.Cys818Gly)
c.2113T>G (p.Cys705Gly)
c.2461T>G (p.Cys821Gly)
c.2241+328T>G (n.2241+328T>G)
c.2205+328T>G (n.2205+328T>G)
c.2491T>G (p.Cys831Gly)
c.2133+328T>G (n.2133+328T>G)
c.1680-5875T>G (n.1680-5875T>G)
c.2587T>G (p.Cys863Gly)
c.2653T>G (p.Cys885Gly)
c.2650T>G (p.Cys884Gly)
c.2623T>G (p.Cys875Gly)
c.2569T>G (p.Cys857Gly)
c.2542T>G (p.Cys848Gly)
c.2527T>G (p.Cys843Gly)
c.2134T>G (p.Cys712Gly)
c.2596T>G (p.Cys866Gly)
c.2533T>G (p.Cys845Gly)
c.2530T>G (p.Cys844Gly)
c.2488T>G (p.Cys830Gly)
c.1561T>G (p.Cys521Gly)
20g.63406718A>GCA409636610KCNQ2c.2599T>C (p.Cys867Arg)
c.2545T>C (p.Cys849Arg)
c.1942T>C (p.Cys648Arg)
c.2452T>C (p.Cys818Arg)
c.2113T>C (p.Cys705Arg)
c.2461T>C (p.Cys821Arg)
c.2241+328T>C (n.2241+328T>C)
c.2205+328T>C (n.2205+328T>C)
c.2491T>C (p.Cys831Arg)
c.2133+328T>C (n.2133+328T>C)
c.1680-5875T>C (n.1680-5875T>C)
c.2587T>C (p.Cys863Arg)
c.2653T>C (p.Cys885Arg)
c.2650T>C (p.Cys884Arg)
c.2623T>C (p.Cys875Arg)
c.2569T>C (p.Cys857Arg)
c.2542T>C (p.Cys848Arg)
c.2527T>C (p.Cys843Arg)
c.2134T>C (p.Cys712Arg)
c.2596T>C (p.Cys866Arg)
c.2533T>C (p.Cys845Arg)
c.2530T>C (p.Cys844Arg)
c.2488T>C (p.Cys830Arg)
c.1561T>C (p.Cys521Arg)
 gnomAD v4
20g.63406718A>TCA409636611KCNQ2c.2599T>A (p.Cys867Ser)
c.2545T>A (p.Cys849Ser)
c.1942T>A (p.Cys648Ser)
c.2452T>A (p.Cys818Ser)
c.2113T>A (p.Cys705Ser)
c.2461T>A (p.Cys821Ser)
c.2241+328T>A (n.2241+328T>A)
c.2205+328T>A (n.2205+328T>A)
c.2491T>A (p.Cys831Ser)
c.2133+328T>A (n.2133+328T>A)
c.1680-5875T>A (n.1680-5875T>A)
c.2587T>A (p.Cys863Ser)
c.2653T>A (p.Cys885Ser)
c.2650T>A (p.Cys884Ser)
c.2623T>A (p.Cys875Ser)
c.2569T>A (p.Cys857Ser)
c.2542T>A (p.Cys848Ser)
c.2527T>A (p.Cys843Ser)
c.2134T>A (p.Cys712Ser)
c.2596T>A (p.Cys866Ser)
c.2533T>A (p.Cys845Ser)
c.2530T>A (p.Cys844Ser)
c.2488T>A (p.Cys830Ser)
c.1561T>A (p.Cys521Ser)
20g.63406719C>ACA511339214KCNQ2c.2598G>T (p.Pro866=)
c.2544G>T (p.Pro848=)
c.1941G>T (p.Pro647=)
c.2451G>T (p.Pro817=)
c.2112G>T (p.Pro704=)
c.2460G>T (p.Pro820=)
c.2241+327G>T (n.2241+327G>T)
c.2205+327G>T (n.2205+327G>T)
c.2490G>T (p.Pro830=)
c.2133+327G>T (n.2133+327G>T)
c.1680-5876G>T (n.1680-5876G>T)
c.2586G>T (p.Pro862=)
c.2652G>T (p.Pro884=)
c.2649G>T (p.Pro883=)
c.2622G>T (p.Pro874=)
c.2568G>T (p.Pro856=)
c.2541G>T (p.Pro847=)
c.2526G>T (p.Pro842=)
c.2133G>T (p.Pro711=)
c.2595G>T (p.Pro865=)
c.2532G>T (p.Pro844=)
c.2529G>T (p.Pro843=)
c.2487G>T (p.Pro829=)
c.1560G>T (p.Pro520=)
 dbSNP gnomAD v2 gnomAD v4
20g.63406719C=CA2374774217KCNQ2c.2598G= (p.Pro866=)
c.2544G= (p.Pro848=)
c.1941G= (p.Pro647=)
c.2451G= (p.Pro817=)
c.2112G= (p.Pro704=)
c.2460G= (p.Pro820=)
c.2241+327G= (n.2241+327G=)
c.2205+327G= (n.2205+327G=)
c.2490G= (p.Pro830=)
c.2133+327G= (n.2133+327G=)
c.1680-5876G= (n.1680-5876G=)
c.2586G= (p.Pro862=)
c.2652G= (p.Pro884=)
c.2649G= (p.Pro883=)
c.2622G= (p.Pro874=)
c.2568G= (p.Pro856=)
c.2541G= (p.Pro847=)
c.2526G= (p.Pro842=)
c.2133G= (p.Pro711=)
c.2595G= (p.Pro865=)
c.2532G= (p.Pro844=)
c.2529G= (p.Pro843=)
c.2487G= (p.Pro829=)
c.1560G= (p.Pro520=)
20g.63406719C>GCA511339215KCNQ2c.2598G>C (p.Pro866=)
c.2544G>C (p.Pro848=)
c.1941G>C (p.Pro647=)
c.2451G>C (p.Pro817=)
c.2112G>C (p.Pro704=)
c.2460G>C (p.Pro820=)
c.2241+327G>C (n.2241+327G>C)
c.2205+327G>C (n.2205+327G>C)
c.2490G>C (p.Pro830=)
c.2133+327G>C (n.2133+327G>C)
c.1680-5876G>C (n.1680-5876G>C)
c.2586G>C (p.Pro862=)
c.2652G>C (p.Pro884=)
c.2649G>C (p.Pro883=)
c.2622G>C (p.Pro874=)
c.2568G>C (p.Pro856=)
c.2541G>C (p.Pro847=)
c.2526G>C (p.Pro842=)
c.2133G>C (p.Pro711=)
c.2595G>C (p.Pro865=)
c.2532G>C (p.Pro844=)
c.2529G>C (p.Pro843=)
c.2487G>C (p.Pro829=)
c.1560G>C (p.Pro520=)
20g.63406719C>TCA291818KCNQ2c.2598G>A (p.Pro866=)
c.2544G>A (p.Pro848=)
c.1941G>A (p.Pro647=)
c.2451G>A (p.Pro817=)
c.2112G>A (p.Pro704=)
c.2460G>A (p.Pro820=)
c.2241+327G>A (n.2241+327G>A)
c.2205+327G>A (n.2205+327G>A)
c.2490G>A (p.Pro830=)
c.2133+327G>A (n.2133+327G>A)
c.1680-5876G>A (n.1680-5876G>A)
c.2586G>A (p.Pro862=)
c.2652G>A (p.Pro884=)
c.2649G>A (p.Pro883=)
c.2622G>A (p.Pro874=)
c.2568G>A (p.Pro856=)
c.2541G>A (p.Pro847=)
c.2526G>A (p.Pro842=)
c.2133G>A (p.Pro711=)
c.2595G>A (p.Pro865=)
c.2532G>A (p.Pro844=)
c.2529G>A (p.Pro843=)
c.2487G>A (p.Pro829=)
c.1560G>A (p.Pro520=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406720G>ACA315533KCNQ2c.2597C>T (p.Pro866Leu)
c.2543C>T (p.Pro848Leu)
c.1940C>T (p.Pro647Leu)
c.2450C>T (p.Pro817Leu)
c.2111C>T (p.Pro704Leu)
c.2459C>T (p.Pro820Leu)
c.2241+326C>T (n.2241+326C>T)
c.2205+326C>T (n.2205+326C>T)
c.2489C>T (p.Pro830Leu)
c.2133+326C>T (n.2133+326C>T)
c.1680-5877C>T (n.1680-5877C>T)
c.2585C>T (p.Pro862Leu)
c.2651C>T (p.Pro884Leu)
c.2648C>T (p.Pro883Leu)
c.2621C>T (p.Pro874Leu)
c.2567C>T (p.Pro856Leu)
c.2540C>T (p.Pro847Leu)
c.2525C>T (p.Pro842Leu)
c.2132C>T (p.Pro711Leu)
c.2594C>T (p.Pro865Leu)
c.2531C>T (p.Pro844Leu)
c.2528C>T (p.Pro843Leu)
c.2486C>T (p.Pro829Leu)
c.1559C>T (p.Pro520Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406720G>CCA409636617KCNQ2c.2597C>G (p.Pro866Arg)
c.2543C>G (p.Pro848Arg)
c.1940C>G (p.Pro647Arg)
c.2450C>G (p.Pro817Arg)
c.2111C>G (p.Pro704Arg)
c.2459C>G (p.Pro820Arg)
c.2241+326C>G (n.2241+326C>G)
c.2205+326C>G (n.2205+326C>G)
c.2489C>G (p.Pro830Arg)
c.2133+326C>G (n.2133+326C>G)
c.1680-5877C>G (n.1680-5877C>G)
c.2585C>G (p.Pro862Arg)
c.2651C>G (p.Pro884Arg)
c.2648C>G (p.Pro883Arg)
c.2621C>G (p.Pro874Arg)
c.2567C>G (p.Pro856Arg)
c.2540C>G (p.Pro847Arg)
c.2525C>G (p.Pro842Arg)
c.2132C>G (p.Pro711Arg)
c.2594C>G (p.Pro865Arg)
c.2531C>G (p.Pro844Arg)
c.2528C>G (p.Pro843Arg)
c.2486C>G (p.Pro829Arg)
c.1559C>G (p.Pro520Arg)
20g.63406720G=CA2374774218KCNQ2c.2597C= (p.Pro866=)
c.2543C= (p.Pro848=)
c.1940C= (p.Pro647=)
c.2450C= (p.Pro817=)
c.2111C= (p.Pro704=)
c.2459C= (p.Pro820=)
c.2241+326C= (n.2241+326C=)
c.2205+326C= (n.2205+326C=)
c.2489C= (p.Pro830=)
c.2133+326C= (n.2133+326C=)
c.1680-5877C= (n.1680-5877C=)
c.2585C= (p.Pro862=)
c.2651C= (p.Pro884=)
c.2648C= (p.Pro883=)
c.2621C= (p.Pro874=)
c.2567C= (p.Pro856=)
c.2540C= (p.Pro847=)
c.2525C= (p.Pro842=)
c.2132C= (p.Pro711=)
c.2594C= (p.Pro865=)
c.2531C= (p.Pro844=)
c.2528C= (p.Pro843=)
c.2486C= (p.Pro829=)
c.1559C= (p.Pro520=)
20g.63406720G>TCA409636615KCNQ2c.2597C>A (p.Pro866Gln)
c.2543C>A (p.Pro848Gln)
c.1940C>A (p.Pro647Gln)
c.2450C>A (p.Pro817Gln)
c.2111C>A (p.Pro704Gln)
c.2459C>A (p.Pro820Gln)
c.2241+326C>A (n.2241+326C>A)
c.2205+326C>A (n.2205+326C>A)
c.2489C>A (p.Pro830Gln)
c.2133+326C>A (n.2133+326C>A)
c.1680-5877C>A (n.1680-5877C>A)
c.2585C>A (p.Pro862Gln)
c.2651C>A (p.Pro884Gln)
c.2648C>A (p.Pro883Gln)
c.2621C>A (p.Pro874Gln)
c.2567C>A (p.Pro856Gln)
c.2540C>A (p.Pro847Gln)
c.2525C>A (p.Pro842Gln)
c.2132C>A (p.Pro711Gln)
c.2594C>A (p.Pro865Gln)
c.2531C>A (p.Pro844Gln)
c.2528C>A (p.Pro843Gln)
c.2486C>A (p.Pro829Gln)
c.1559C>A (p.Pro520Gln)
20g.63406721G>ACA409636620KCNQ2c.2596C>T (p.Pro866Ser)
c.2542C>T (p.Pro848Ser)
c.1939C>T (p.Pro647Ser)
c.2449C>T (p.Pro817Ser)
c.2110C>T (p.Pro704Ser)
c.2458C>T (p.Pro820Ser)
c.2241+325C>T (n.2241+325C>T)
c.2205+325C>T (n.2205+325C>T)
c.2488C>T (p.Pro830Ser)
c.2133+325C>T (n.2133+325C>T)
c.1680-5878C>T (n.1680-5878C>T)
c.2584C>T (p.Pro862Ser)
c.2650C>T (p.Pro884Ser)
c.2647C>T (p.Pro883Ser)
c.2620C>T (p.Pro874Ser)
c.2566C>T (p.Pro856Ser)
c.2539C>T (p.Pro847Ser)
c.2524C>T (p.Pro842Ser)
c.2131C>T (p.Pro711Ser)
c.2593C>T (p.Pro865Ser)
c.2530C>T (p.Pro844Ser)
c.2527C>T (p.Pro843Ser)
c.2485C>T (p.Pro829Ser)
c.1558C>T (p.Pro520Ser)
20g.63406721G>CCA409636621KCNQ2c.2596C>G (p.Pro866Ala)
c.2542C>G (p.Pro848Ala)
c.1939C>G (p.Pro647Ala)
c.2449C>G (p.Pro817Ala)
c.2110C>G (p.Pro704Ala)
c.2458C>G (p.Pro820Ala)
c.2241+325C>G (n.2241+325C>G)
c.2205+325C>G (n.2205+325C>G)
c.2488C>G (p.Pro830Ala)
c.2133+325C>G (n.2133+325C>G)
c.1680-5878C>G (n.1680-5878C>G)
c.2584C>G (p.Pro862Ala)
c.2650C>G (p.Pro884Ala)
c.2647C>G (p.Pro883Ala)
c.2620C>G (p.Pro874Ala)
c.2566C>G (p.Pro856Ala)
c.2539C>G (p.Pro847Ala)
c.2524C>G (p.Pro842Ala)
c.2131C>G (p.Pro711Ala)
c.2593C>G (p.Pro865Ala)
c.2530C>G (p.Pro844Ala)
c.2527C>G (p.Pro843Ala)
c.2485C>G (p.Pro829Ala)
c.1558C>G (p.Pro520Ala)
20g.63406721G>TCA409636622KCNQ2c.2596C>A (p.Pro866Thr)
c.2542C>A (p.Pro848Thr)
c.1939C>A (p.Pro647Thr)
c.2449C>A (p.Pro817Thr)
c.2110C>A (p.Pro704Thr)
c.2458C>A (p.Pro820Thr)
c.2241+325C>A (n.2241+325C>A)
c.2205+325C>A (n.2205+325C>A)
c.2488C>A (p.Pro830Thr)
c.2133+325C>A (n.2133+325C>A)
c.1680-5878C>A (n.1680-5878C>A)
c.2584C>A (p.Pro862Thr)
c.2650C>A (p.Pro884Thr)
c.2647C>A (p.Pro883Thr)
c.2620C>A (p.Pro874Thr)
c.2566C>A (p.Pro856Thr)
c.2539C>A (p.Pro847Thr)
c.2524C>A (p.Pro842Thr)
c.2131C>A (p.Pro711Thr)
c.2593C>A (p.Pro865Thr)
c.2530C>A (p.Pro844Thr)
c.2527C>A (p.Pro843Thr)
c.2485C>A (p.Pro829Thr)
c.1558C>A (p.Pro520Thr)
20g.63406722G>ACA511339216KCNQ2c.2595C>T (p.Thr865=)
c.2541C>T (p.Thr847=)
c.1938C>T (p.Thr646=)
c.2448C>T (p.Thr816=)
c.2109C>T (p.Thr703=)
c.2457C>T (p.Thr819=)
c.2241+324C>T (n.2241+324C>T)
c.2205+324C>T (n.2205+324C>T)
c.2487C>T (p.Thr829=)
c.2133+324C>T (n.2133+324C>T)
c.1680-5879C>T (n.1680-5879C>T)
c.2583C>T (p.Thr861=)
c.2649C>T (p.Thr883=)
c.2646C>T (p.Thr882=)
c.2619C>T (p.Thr873=)
c.2565C>T (p.Thr855=)
c.2538C>T (p.Thr846=)
c.2523C>T (p.Thr841=)
c.2130C>T (p.Thr710=)
c.2592C>T (p.Thr864=)
c.2529C>T (p.Thr843=)
c.2526C>T (p.Thr842=)
c.2484C>T (p.Thr828=)
c.1557C>T (p.Thr519=)
20g.63406722G>CCA511339217KCNQ2c.2595C>G (p.Thr865=)
c.2541C>G (p.Thr847=)
c.1938C>G (p.Thr646=)
c.2448C>G (p.Thr816=)
c.2109C>G (p.Thr703=)
c.2457C>G (p.Thr819=)
c.2241+324C>G (n.2241+324C>G)
c.2205+324C>G (n.2205+324C>G)
c.2487C>G (p.Thr829=)
c.2133+324C>G (n.2133+324C>G)
c.1680-5879C>G (n.1680-5879C>G)
c.2583C>G (p.Thr861=)
c.2649C>G (p.Thr883=)
c.2646C>G (p.Thr882=)
c.2619C>G (p.Thr873=)
c.2565C>G (p.Thr855=)
c.2538C>G (p.Thr846=)
c.2523C>G (p.Thr841=)
c.2130C>G (p.Thr710=)
c.2592C>G (p.Thr864=)
c.2529C>G (p.Thr843=)
c.2526C>G (p.Thr842=)
c.2484C>G (p.Thr828=)
c.1557C>G (p.Thr519=)
20g.63406722G>TCA511339218KCNQ2c.2595C>A (p.Thr865=)
c.2541C>A (p.Thr847=)
c.1938C>A (p.Thr646=)
c.2448C>A (p.Thr816=)
c.2109C>A (p.Thr703=)
c.2457C>A (p.Thr819=)
c.2241+324C>A (n.2241+324C>A)
c.2205+324C>A (n.2205+324C>A)
c.2487C>A (p.Thr829=)
c.2133+324C>A (n.2133+324C>A)
c.1680-5879C>A (n.1680-5879C>A)
c.2583C>A (p.Thr861=)
c.2649C>A (p.Thr883=)
c.2646C>A (p.Thr882=)
c.2619C>A (p.Thr873=)
c.2565C>A (p.Thr855=)
c.2538C>A (p.Thr846=)
c.2523C>A (p.Thr841=)
c.2130C>A (p.Thr710=)
c.2592C>A (p.Thr864=)
c.2529C>A (p.Thr843=)
c.2526C>A (p.Thr842=)
c.2484C>A (p.Thr828=)
c.1557C>A (p.Thr519=)
20g.63406723G>ACA9958062KCNQ2c.2594C>T (p.Thr865Ile)
c.2540C>T (p.Thr847Ile)
c.1937C>T (p.Thr646Ile)
c.2447C>T (p.Thr816Ile)
c.2108C>T (p.Thr703Ile)
c.2456C>T (p.Thr819Ile)
c.2241+323C>T (n.2241+323C>T)
c.2205+323C>T (n.2205+323C>T)
c.2486C>T (p.Thr829Ile)
c.2133+323C>T (n.2133+323C>T)
c.1680-5880C>T (n.1680-5880C>T)
c.2582C>T (p.Thr861Ile)
c.2648C>T (p.Thr883Ile)
c.2645C>T (p.Thr882Ile)
c.2618C>T (p.Thr873Ile)
c.2564C>T (p.Thr855Ile)
c.2537C>T (p.Thr846Ile)
c.2522C>T (p.Thr841Ile)
c.2129C>T (p.Thr710Ile)
c.2591C>T (p.Thr864Ile)
c.2528C>T (p.Thr843Ile)
c.2525C>T (p.Thr842Ile)
c.2483C>T (p.Thr828Ile)
c.1556C>T (p.Thr519Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406723G>CCA409636626KCNQ2c.2594C>G (p.Thr865Ser)
c.2540C>G (p.Thr847Ser)
c.1937C>G (p.Thr646Ser)
c.2447C>G (p.Thr816Ser)
c.2108C>G (p.Thr703Ser)
c.2456C>G (p.Thr819Ser)
c.2241+323C>G (n.2241+323C>G)
c.2205+323C>G (n.2205+323C>G)
c.2486C>G (p.Thr829Ser)
c.2133+323C>G (n.2133+323C>G)
c.1680-5880C>G (n.1680-5880C>G)
c.2582C>G (p.Thr861Ser)
c.2648C>G (p.Thr883Ser)
c.2645C>G (p.Thr882Ser)
c.2618C>G (p.Thr873Ser)
c.2564C>G (p.Thr855Ser)
c.2537C>G (p.Thr846Ser)
c.2522C>G (p.Thr841Ser)
c.2129C>G (p.Thr710Ser)
c.2591C>G (p.Thr864Ser)
c.2528C>G (p.Thr843Ser)
c.2525C>G (p.Thr842Ser)
c.2483C>G (p.Thr828Ser)
c.1556C>G (p.Thr519Ser)
20g.63406723G=CA2374774219KCNQ2c.2594C= (p.Thr865=)
c.2540C= (p.Thr847=)
c.1937C= (p.Thr646=)
c.2447C= (p.Thr816=)
c.2108C= (p.Thr703=)
c.2456C= (p.Thr819=)
c.2241+323C= (n.2241+323C=)
c.2205+323C= (n.2205+323C=)
c.2486C= (p.Thr829=)
c.2133+323C= (n.2133+323C=)
c.1680-5880C= (n.1680-5880C=)
c.2582C= (p.Thr861=)
c.2648C= (p.Thr883=)
c.2645C= (p.Thr882=)
c.2618C= (p.Thr873=)
c.2564C= (p.Thr855=)
c.2537C= (p.Thr846=)
c.2522C= (p.Thr841=)
c.2129C= (p.Thr710=)
c.2591C= (p.Thr864=)
c.2528C= (p.Thr843=)
c.2525C= (p.Thr842=)
c.2483C= (p.Thr828=)
c.1556C= (p.Thr519=)
20g.63406723G>TCA409636628KCNQ2c.2594C>A (p.Thr865Asn)
c.2540C>A (p.Thr847Asn)
c.1937C>A (p.Thr646Asn)
c.2447C>A (p.Thr816Asn)
c.2108C>A (p.Thr703Asn)
c.2456C>A (p.Thr819Asn)
c.2241+323C>A (n.2241+323C>A)
c.2205+323C>A (n.2205+323C>A)
c.2486C>A (p.Thr829Asn)
c.2133+323C>A (n.2133+323C>A)
c.1680-5880C>A (n.1680-5880C>A)
c.2582C>A (p.Thr861Asn)
c.2648C>A (p.Thr883Asn)
c.2645C>A (p.Thr882Asn)
c.2618C>A (p.Thr873Asn)
c.2564C>A (p.Thr855Asn)
c.2537C>A (p.Thr846Asn)
c.2522C>A (p.Thr841Asn)
c.2129C>A (p.Thr710Asn)
c.2591C>A (p.Thr864Asn)
c.2528C>A (p.Thr843Asn)
c.2525C>A (p.Thr842Asn)
c.2483C>A (p.Thr828Asn)
c.1556C>A (p.Thr519Asn)
20g.63406724T>ACA409636630KCNQ2c.2593A>T (p.Thr865Ser)
c.2539A>T (p.Thr847Ser)
c.1936A>T (p.Thr646Ser)
c.2446A>T (p.Thr816Ser)
c.2107A>T (p.Thr703Ser)
c.2455A>T (p.Thr819Ser)
c.2241+322A>T (n.2241+322A>T)
c.2205+322A>T (n.2205+322A>T)
c.2485A>T (p.Thr829Ser)
c.2133+322A>T (n.2133+322A>T)
c.1680-5881A>T (n.1680-5881A>T)
c.2581A>T (p.Thr861Ser)
c.2647A>T (p.Thr883Ser)
c.2644A>T (p.Thr882Ser)
c.2617A>T (p.Thr873Ser)
c.2563A>T (p.Thr855Ser)
c.2536A>T (p.Thr846Ser)
c.2521A>T (p.Thr841Ser)
c.2128A>T (p.Thr710Ser)
c.2590A>T (p.Thr864Ser)
c.2527A>T (p.Thr843Ser)
c.2524A>T (p.Thr842Ser)
c.2482A>T (p.Thr828Ser)
c.1555A>T (p.Thr519Ser)
20g.63406724T>CCA409636631KCNQ2c.2593A>G (p.Thr865Ala)
c.2539A>G (p.Thr847Ala)
c.1936A>G (p.Thr646Ala)
c.2446A>G (p.Thr816Ala)
c.2107A>G (p.Thr703Ala)
c.2455A>G (p.Thr819Ala)
c.2241+322A>G (n.2241+322A>G)
c.2205+322A>G (n.2205+322A>G)
c.2485A>G (p.Thr829Ala)
c.2133+322A>G (n.2133+322A>G)
c.1680-5881A>G (n.1680-5881A>G)
c.2581A>G (p.Thr861Ala)
c.2647A>G (p.Thr883Ala)
c.2644A>G (p.Thr882Ala)
c.2617A>G (p.Thr873Ala)
c.2563A>G (p.Thr855Ala)
c.2536A>G (p.Thr846Ala)
c.2521A>G (p.Thr841Ala)
c.2128A>G (p.Thr710Ala)
c.2590A>G (p.Thr864Ala)
c.2527A>G (p.Thr843Ala)
c.2524A>G (p.Thr842Ala)
c.2482A>G (p.Thr828Ala)
c.1555A>G (p.Thr519Ala)
20g.63406724T>GCA9958063KCNQ2c.2593A>C (p.Thr865Pro)
c.2539A>C (p.Thr847Pro)
c.1936A>C (p.Thr646Pro)
c.2446A>C (p.Thr816Pro)
c.2107A>C (p.Thr703Pro)
c.2455A>C (p.Thr819Pro)
c.2241+322A>C (n.2241+322A>C)
c.2205+322A>C (n.2205+322A>C)
c.2485A>C (p.Thr829Pro)
c.2133+322A>C (n.2133+322A>C)
c.1680-5881A>C (n.1680-5881A>C)
c.2581A>C (p.Thr861Pro)
c.2647A>C (p.Thr883Pro)
c.2644A>C (p.Thr882Pro)
c.2617A>C (p.Thr873Pro)
c.2563A>C (p.Thr855Pro)
c.2536A>C (p.Thr846Pro)
c.2521A>C (p.Thr841Pro)
c.2128A>C (p.Thr710Pro)
c.2590A>C (p.Thr864Pro)
c.2527A>C (p.Thr843Pro)
c.2524A>C (p.Thr842Pro)
c.2482A>C (p.Thr828Pro)
c.1555A>C (p.Thr519Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406724T=CA2374774220KCNQ2c.2593A= (p.Thr865=)
c.2539A= (p.Thr847=)
c.1936A= (p.Thr646=)
c.2446A= (p.Thr816=)
c.2107A= (p.Thr703=)
c.2455A= (p.Thr819=)
c.2241+322A= (n.2241+322A=)
c.2205+322A= (n.2205+322A=)
c.2485A= (p.Thr829=)
c.2133+322A= (n.2133+322A=)
c.1680-5881A= (n.1680-5881A=)
c.2581A= (p.Thr861=)
c.2647A= (p.Thr883=)
c.2644A= (p.Thr882=)
c.2617A= (p.Thr873=)
c.2563A= (p.Thr855=)
c.2536A= (p.Thr846=)
c.2521A= (p.Thr841=)
c.2128A= (p.Thr710=)
c.2590A= (p.Thr864=)
c.2527A= (p.Thr843=)
c.2524A= (p.Thr842=)
c.2482A= (p.Thr828=)
c.1555A= (p.Thr519=)
20g.63406725A>CCA409636634KCNQ2c.2592T>G (p.Cys864Trp)
c.2538T>G (p.Cys846Trp)
c.1935T>G (p.Cys645Trp)
c.2445T>G (p.Cys815Trp)
c.2106T>G (p.Cys702Trp)
c.2454T>G (p.Cys818Trp)
c.2241+321T>G (n.2241+321T>G)
c.2205+321T>G (n.2205+321T>G)
c.2484T>G (p.Cys828Trp)
c.2133+321T>G (n.2133+321T>G)
c.1680-5882T>G (n.1680-5882T>G)
c.2580T>G (p.Cys860Trp)
c.2646T>G (p.Cys882Trp)
c.2643T>G (p.Cys881Trp)
c.2616T>G (p.Cys872Trp)
c.2562T>G (p.Cys854Trp)
c.2535T>G (p.Cys845Trp)
c.2520T>G (p.Cys840Trp)
c.2127T>G (p.Cys709Trp)
c.2589T>G (p.Cys863Trp)
c.2526T>G (p.Cys842Trp)
c.2523T>G (p.Cys841Trp)
c.2481T>G (p.Cys827Trp)
c.1554T>G (p.Cys518Trp)
 COSMIC COSMIC COSMIC
20g.63406725A>GCA511339219KCNQ2c.2592T>C (p.Cys864=)
c.2538T>C (p.Cys846=)
c.1935T>C (p.Cys645=)
c.2445T>C (p.Cys815=)
c.2106T>C (p.Cys702=)
c.2454T>C (p.Cys818=)
c.2241+321T>C (n.2241+321T>C)
c.2205+321T>C (n.2205+321T>C)
c.2484T>C (p.Cys828=)
c.2133+321T>C (n.2133+321T>C)
c.1680-5882T>C (n.1680-5882T>C)
c.2580T>C (p.Cys860=)
c.2646T>C (p.Cys882=)
c.2643T>C (p.Cys881=)
c.2616T>C (p.Cys872=)
c.2562T>C (p.Cys854=)
c.2535T>C (p.Cys845=)
c.2520T>C (p.Cys840=)
c.2127T>C (p.Cys709=)
c.2589T>C (p.Cys863=)
c.2526T>C (p.Cys842=)
c.2523T>C (p.Cys841=)
c.2481T>C (p.Cys827=)
c.1554T>C (p.Cys518=)
20g.63406725A>TCA409636636KCNQ2c.2592T>A (p.Cys864Ter)
c.2538T>A (p.Cys846Ter)
c.1935T>A (p.Cys645Ter)
c.2445T>A (p.Cys815Ter)
c.2106T>A (p.Cys702Ter)
c.2454T>A (p.Cys818Ter)
c.2241+321T>A (n.2241+321T>A)
c.2205+321T>A (n.2205+321T>A)
c.2484T>A (p.Cys828Ter)
c.2133+321T>A (n.2133+321T>A)
c.1680-5882T>A (n.1680-5882T>A)
c.2580T>A (p.Cys860Ter)
c.2646T>A (p.Cys882Ter)
c.2643T>A (p.Cys881Ter)
c.2616T>A (p.Cys872Ter)
c.2562T>A (p.Cys854Ter)
c.2535T>A (p.Cys845Ter)
c.2520T>A (p.Cys840Ter)
c.2127T>A (p.Cys709Ter)
c.2589T>A (p.Cys863Ter)
c.2526T>A (p.Cys842Ter)
c.2523T>A (p.Cys841Ter)
c.2481T>A (p.Cys827Ter)
c.1554T>A (p.Cys518Ter)
20g.63406726C>ACA409636640KCNQ2c.2591G>T (p.Cys864Phe)
c.2537G>T (p.Cys846Phe)
c.1934G>T (p.Cys645Phe)
c.2444G>T (p.Cys815Phe)
c.2105G>T (p.Cys702Phe)
c.2453G>T (p.Cys818Phe)
c.2241+320G>T (n.2241+320G>T)
c.2205+320G>T (n.2205+320G>T)
c.2483G>T (p.Cys828Phe)
c.2133+320G>T (n.2133+320G>T)
c.1680-5883G>T (n.1680-5883G>T)
c.2579G>T (p.Cys860Phe)
c.2645G>T (p.Cys882Phe)
c.2642G>T (p.Cys881Phe)
c.2615G>T (p.Cys872Phe)
c.2561G>T (p.Cys854Phe)
c.2534G>T (p.Cys845Phe)
c.2519G>T (p.Cys840Phe)
c.2126G>T (p.Cys709Phe)
c.2588G>T (p.Cys863Phe)
c.2525G>T (p.Cys842Phe)
c.2522G>T (p.Cys841Phe)
c.2480G>T (p.Cys827Phe)
c.1553G>T (p.Cys518Phe)
20g.63406726C>GCA409636642KCNQ2c.2591G>C (p.Cys864Ser)
c.2537G>C (p.Cys846Ser)
c.1934G>C (p.Cys645Ser)
c.2444G>C (p.Cys815Ser)
c.2105G>C (p.Cys702Ser)
c.2453G>C (p.Cys818Ser)
c.2241+320G>C (n.2241+320G>C)
c.2205+320G>C (n.2205+320G>C)
c.2483G>C (p.Cys828Ser)
c.2133+320G>C (n.2133+320G>C)
c.1680-5883G>C (n.1680-5883G>C)
c.2579G>C (p.Cys860Ser)
c.2645G>C (p.Cys882Ser)
c.2642G>C (p.Cys881Ser)
c.2615G>C (p.Cys872Ser)
c.2561G>C (p.Cys854Ser)
c.2534G>C (p.Cys845Ser)
c.2519G>C (p.Cys840Ser)
c.2126G>C (p.Cys709Ser)
c.2588G>C (p.Cys863Ser)
c.2525G>C (p.Cys842Ser)
c.2522G>C (p.Cys841Ser)
c.2480G>C (p.Cys827Ser)
c.1553G>C (p.Cys518Ser)
20g.63406726C>TCA409636638KCNQ2c.2591G>A (p.Cys864Tyr)
c.2537G>A (p.Cys846Tyr)
c.1934G>A (p.Cys645Tyr)
c.2444G>A (p.Cys815Tyr)
c.2105G>A (p.Cys702Tyr)
c.2453G>A (p.Cys818Tyr)
c.2241+320G>A (n.2241+320G>A)
c.2205+320G>A (n.2205+320G>A)
c.2483G>A (p.Cys828Tyr)
c.2133+320G>A (n.2133+320G>A)
c.1680-5883G>A (n.1680-5883G>A)
c.2579G>A (p.Cys860Tyr)
c.2645G>A (p.Cys882Tyr)
c.2642G>A (p.Cys881Tyr)
c.2615G>A (p.Cys872Tyr)
c.2561G>A (p.Cys854Tyr)
c.2534G>A (p.Cys845Tyr)
c.2519G>A (p.Cys840Tyr)
c.2126G>A (p.Cys709Tyr)
c.2588G>A (p.Cys863Tyr)
c.2525G>A (p.Cys842Tyr)
c.2522G>A (p.Cys841Tyr)
c.2480G>A (p.Cys827Tyr)
c.1553G>A (p.Cys518Tyr)
 gnomAD v4
20g.63406727A=CA2374774221KCNQ2c.2590T= (p.Cys864=)
c.2536T= (p.Cys846=)
c.1933T= (p.Cys645=)
c.2443T= (p.Cys815=)
c.2104T= (p.Cys702=)
c.2452T= (p.Cys818=)
c.2241+319T= (n.2241+319T=)
c.2205+319T= (n.2205+319T=)
c.2482T= (p.Cys828=)
c.2133+319T= (n.2133+319T=)
c.1680-5884T= (n.1680-5884T=)
c.2578T= (p.Cys860=)
c.2644T= (p.Cys882=)
c.2641T= (p.Cys881=)
c.2614T= (p.Cys872=)
c.2560T= (p.Cys854=)
c.2533T= (p.Cys845=)
c.2518T= (p.Cys840=)
c.2125T= (p.Cys709=)
c.2587T= (p.Cys863=)
c.2524T= (p.Cys842=)
c.2521T= (p.Cys841=)
c.2479T= (p.Cys827=)
c.1552T= (p.Cys518=)
20g.63406727A>CCA409636649KCNQ2c.2590T>G (p.Cys864Gly)
c.2536T>G (p.Cys846Gly)
c.1933T>G (p.Cys645Gly)
c.2443T>G (p.Cys815Gly)
c.2104T>G (p.Cys702Gly)
c.2452T>G (p.Cys818Gly)
c.2241+319T>G (n.2241+319T>G)
c.2205+319T>G (n.2205+319T>G)
c.2482T>G (p.Cys828Gly)
c.2133+319T>G (n.2133+319T>G)
c.1680-5884T>G (n.1680-5884T>G)
c.2578T>G (p.Cys860Gly)
c.2644T>G (p.Cys882Gly)
c.2641T>G (p.Cys881Gly)
c.2614T>G (p.Cys872Gly)
c.2560T>G (p.Cys854Gly)
c.2533T>G (p.Cys845Gly)
c.2518T>G (p.Cys840Gly)
c.2125T>G (p.Cys709Gly)
c.2587T>G (p.Cys863Gly)
c.2524T>G (p.Cys842Gly)
c.2521T>G (p.Cys841Gly)
c.2479T>G (p.Cys827Gly)
c.1552T>G (p.Cys518Gly)
 ClinVar dbSNP
20g.63406727A>GCA409636645KCNQ2c.2590T>C (p.Cys864Arg)
c.2536T>C (p.Cys846Arg)
c.1933T>C (p.Cys645Arg)
c.2443T>C (p.Cys815Arg)
c.2104T>C (p.Cys702Arg)
c.2452T>C (p.Cys818Arg)
c.2241+319T>C (n.2241+319T>C)
c.2205+319T>C (n.2205+319T>C)
c.2482T>C (p.Cys828Arg)
c.2133+319T>C (n.2133+319T>C)
c.1680-5884T>C (n.1680-5884T>C)
c.2578T>C (p.Cys860Arg)
c.2644T>C (p.Cys882Arg)
c.2641T>C (p.Cys881Arg)
c.2614T>C (p.Cys872Arg)
c.2560T>C (p.Cys854Arg)
c.2533T>C (p.Cys845Arg)
c.2518T>C (p.Cys840Arg)
c.2125T>C (p.Cys709Arg)
c.2587T>C (p.Cys863Arg)
c.2524T>C (p.Cys842Arg)
c.2521T>C (p.Cys841Arg)
c.2479T>C (p.Cys827Arg)
c.1552T>C (p.Cys518Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.63406727A>TCA409636647KCNQ2c.2590T>A (p.Cys864Ser)
c.2536T>A (p.Cys846Ser)
c.1933T>A (p.Cys645Ser)
c.2443T>A (p.Cys815Ser)
c.2104T>A (p.Cys702Ser)
c.2452T>A (p.Cys818Ser)
c.2241+319T>A (n.2241+319T>A)
c.2205+319T>A (n.2205+319T>A)
c.2482T>A (p.Cys828Ser)
c.2133+319T>A (n.2133+319T>A)
c.1680-5884T>A (n.1680-5884T>A)
c.2578T>A (p.Cys860Ser)
c.2644T>A (p.Cys882Ser)
c.2641T>A (p.Cys881Ser)
c.2614T>A (p.Cys872Ser)
c.2560T>A (p.Cys854Ser)
c.2533T>A (p.Cys845Ser)
c.2518T>A (p.Cys840Ser)
c.2125T>A (p.Cys709Ser)
c.2587T>A (p.Cys863Ser)
c.2524T>A (p.Cys842Ser)
c.2521T>A (p.Cys841Ser)
c.2479T>A (p.Cys827Ser)
c.1552T>A (p.Cys518Ser)
20g.63406728G>ACA511339220KCNQ2c.2589C>T (p.Leu863=)
c.2535C>T (p.Leu845=)
c.1932C>T (p.Leu644=)
c.2442C>T (p.Leu814=)
c.2103C>T (p.Leu701=)
c.2451C>T (p.Leu817=)
c.2241+318C>T (n.2241+318C>T)
c.2205+318C>T (n.2205+318C>T)
c.2481C>T (p.Leu827=)
c.2133+318C>T (n.2133+318C>T)
c.1680-5885C>T (n.1680-5885C>T)
c.2577C>T (p.Leu859=)
c.2643C>T (p.Leu881=)
c.2640C>T (p.Leu880=)
c.2613C>T (p.Leu871=)
c.2559C>T (p.Leu853=)
c.2532C>T (p.Leu844=)
c.2517C>T (p.Leu839=)
c.2124C>T (p.Leu708=)
c.2586C>T (p.Leu862=)
c.2523C>T (p.Leu841=)
c.2520C>T (p.Leu840=)
c.2478C>T (p.Leu826=)
c.1551C>T (p.Leu517=)
 gnomAD v4
20g.63406728G>CCA315324KCNQ2c.2589C>G (p.Leu863=)
c.2535C>G (p.Leu845=)
c.1932C>G (p.Leu644=)
c.2442C>G (p.Leu814=)
c.2103C>G (p.Leu701=)
c.2451C>G (p.Leu817=)
c.2241+318C>G (n.2241+318C>G)
c.2205+318C>G (n.2205+318C>G)
c.2481C>G (p.Leu827=)
c.2133+318C>G (n.2133+318C>G)
c.1680-5885C>G (n.1680-5885C>G)
c.2577C>G (p.Leu859=)
c.2643C>G (p.Leu881=)
c.2640C>G (p.Leu880=)
c.2613C>G (p.Leu871=)
c.2559C>G (p.Leu853=)
c.2532C>G (p.Leu844=)
c.2517C>G (p.Leu839=)
c.2124C>G (p.Leu708=)
c.2586C>G (p.Leu862=)
c.2523C>G (p.Leu841=)
c.2520C>G (p.Leu840=)
c.2478C>G (p.Leu826=)
c.1551C>G (p.Leu517=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406728G=CA2374774222KCNQ2c.2589C= (p.Leu863=)
c.2535C= (p.Leu845=)
c.1932C= (p.Leu644=)
c.2442C= (p.Leu814=)
c.2103C= (p.Leu701=)
c.2451C= (p.Leu817=)
c.2241+318C= (n.2241+318C=)
c.2205+318C= (n.2205+318C=)
c.2481C= (p.Leu827=)
c.2133+318C= (n.2133+318C=)
c.1680-5885C= (n.1680-5885C=)
c.2577C= (p.Leu859=)
c.2643C= (p.Leu881=)
c.2640C= (p.Leu880=)
c.2613C= (p.Leu871=)
c.2559C= (p.Leu853=)
c.2532C= (p.Leu844=)
c.2517C= (p.Leu839=)
c.2124C= (p.Leu708=)
c.2586C= (p.Leu862=)
c.2523C= (p.Leu841=)
c.2520C= (p.Leu840=)
c.2478C= (p.Leu826=)
c.1551C= (p.Leu517=)
20g.63406728G>TCA511339221KCNQ2c.2589C>A (p.Leu863=)
c.2535C>A (p.Leu845=)
c.1932C>A (p.Leu644=)
c.2442C>A (p.Leu814=)
c.2103C>A (p.Leu701=)
c.2451C>A (p.Leu817=)
c.2241+318C>A (n.2241+318C>A)
c.2205+318C>A (n.2205+318C>A)
c.2481C>A (p.Leu827=)
c.2133+318C>A (n.2133+318C>A)
c.1680-5885C>A (n.1680-5885C>A)
c.2577C>A (p.Leu859=)
c.2643C>A (p.Leu881=)
c.2640C>A (p.Leu880=)
c.2613C>A (p.Leu871=)
c.2559C>A (p.Leu853=)
c.2532C>A (p.Leu844=)
c.2517C>A (p.Leu839=)
c.2124C>A (p.Leu708=)
c.2586C>A (p.Leu862=)
c.2523C>A (p.Leu841=)
c.2520C>A (p.Leu840=)
c.2478C>A (p.Leu826=)
c.1551C>A (p.Leu517=)
20g.63406729A>CCA409636653KCNQ2c.2588T>G (p.Leu863Arg)
c.2534T>G (p.Leu845Arg)
c.1931T>G (p.Leu644Arg)
c.2441T>G (p.Leu814Arg)
c.2102T>G (p.Leu701Arg)
c.2450T>G (p.Leu817Arg)
c.2241+317T>G (n.2241+317T>G)
c.2205+317T>G (n.2205+317T>G)
c.2480T>G (p.Leu827Arg)
c.2133+317T>G (n.2133+317T>G)
c.1680-5886T>G (n.1680-5886T>G)
c.2576T>G (p.Leu859Arg)
c.2642T>G (p.Leu881Arg)
c.2639T>G (p.Leu880Arg)
c.2612T>G (p.Leu871Arg)
c.2558T>G (p.Leu853Arg)
c.2531T>G (p.Leu844Arg)
c.2516T>G (p.Leu839Arg)
c.2123T>G (p.Leu708Arg)
c.2585T>G (p.Leu862Arg)
c.2522T>G (p.Leu841Arg)
c.2519T>G (p.Leu840Arg)
c.2477T>G (p.Leu826Arg)
c.1550T>G (p.Leu517Arg)
20g.63406729A>GCA409636654KCNQ2c.2588T>C (p.Leu863Pro)
c.2534T>C (p.Leu845Pro)
c.1931T>C (p.Leu644Pro)
c.2441T>C (p.Leu814Pro)
c.2102T>C (p.Leu701Pro)
c.2450T>C (p.Leu817Pro)
c.2241+317T>C (n.2241+317T>C)
c.2205+317T>C (n.2205+317T>C)
c.2480T>C (p.Leu827Pro)
c.2133+317T>C (n.2133+317T>C)
c.1680-5886T>C (n.1680-5886T>C)
c.2576T>C (p.Leu859Pro)
c.2642T>C (p.Leu881Pro)
c.2639T>C (p.Leu880Pro)
c.2612T>C (p.Leu871Pro)
c.2558T>C (p.Leu853Pro)
c.2531T>C (p.Leu844Pro)
c.2516T>C (p.Leu839Pro)
c.2123T>C (p.Leu708Pro)
c.2585T>C (p.Leu862Pro)
c.2522T>C (p.Leu841Pro)
c.2519T>C (p.Leu840Pro)
c.2477T>C (p.Leu826Pro)
c.1550T>C (p.Leu517Pro)
 gnomAD v4
20g.63406729A>TCA409636656KCNQ2c.2588T>A (p.Leu863His)
c.2534T>A (p.Leu845His)
c.1931T>A (p.Leu644His)
c.2441T>A (p.Leu814His)
c.2102T>A (p.Leu701His)
c.2450T>A (p.Leu817His)
c.2241+317T>A (n.2241+317T>A)
c.2205+317T>A (n.2205+317T>A)
c.2480T>A (p.Leu827His)
c.2133+317T>A (n.2133+317T>A)
c.1680-5886T>A (n.1680-5886T>A)
c.2576T>A (p.Leu859His)
c.2642T>A (p.Leu881His)
c.2639T>A (p.Leu880His)
c.2612T>A (p.Leu871His)
c.2558T>A (p.Leu853His)
c.2531T>A (p.Leu844His)
c.2516T>A (p.Leu839His)
c.2123T>A (p.Leu708His)
c.2585T>A (p.Leu862His)
c.2522T>A (p.Leu841His)
c.2519T>A (p.Leu840His)
c.2477T>A (p.Leu826His)
c.1550T>A (p.Leu517His)
20g.63406730G>ACA409636660KCNQ2c.2587C>T (p.Leu863Phe)
c.2533C>T (p.Leu845Phe)
c.1930C>T (p.Leu644Phe)
c.2440C>T (p.Leu814Phe)
c.2101C>T (p.Leu701Phe)
c.2449C>T (p.Leu817Phe)
c.2241+316C>T (n.2241+316C>T)
c.2205+316C>T (n.2205+316C>T)
c.2479C>T (p.Leu827Phe)
c.2133+316C>T (n.2133+316C>T)
c.1680-5887C>T (n.1680-5887C>T)
c.2575C>T (p.Leu859Phe)
c.2641C>T (p.Leu881Phe)
c.2638C>T (p.Leu880Phe)
c.2611C>T (p.Leu871Phe)
c.2557C>T (p.Leu853Phe)
c.2530C>T (p.Leu844Phe)
c.2515C>T (p.Leu839Phe)
c.2122C>T (p.Leu708Phe)
c.2584C>T (p.Leu862Phe)
c.2521C>T (p.Leu841Phe)
c.2518C>T (p.Leu840Phe)
c.2476C>T (p.Leu826Phe)
c.1549C>T (p.Leu517Phe)
20g.63406730G>CCA409636658KCNQ2c.2587C>G (p.Leu863Val)
c.2533C>G (p.Leu845Val)
c.1930C>G (p.Leu644Val)
c.2440C>G (p.Leu814Val)
c.2101C>G (p.Leu701Val)
c.2449C>G (p.Leu817Val)
c.2241+316C>G (n.2241+316C>G)
c.2205+316C>G (n.2205+316C>G)
c.2479C>G (p.Leu827Val)
c.2133+316C>G (n.2133+316C>G)
c.1680-5887C>G (n.1680-5887C>G)
c.2575C>G (p.Leu859Val)
c.2641C>G (p.Leu881Val)
c.2638C>G (p.Leu880Val)
c.2611C>G (p.Leu871Val)
c.2557C>G (p.Leu853Val)
c.2530C>G (p.Leu844Val)
c.2515C>G (p.Leu839Val)
c.2122C>G (p.Leu708Val)
c.2584C>G (p.Leu862Val)
c.2521C>G (p.Leu841Val)
c.2518C>G (p.Leu840Val)
c.2476C>G (p.Leu826Val)
c.1549C>G (p.Leu517Val)
20g.63406730G>TCA409636659KCNQ2c.2587C>A (p.Leu863Ile)
c.2533C>A (p.Leu845Ile)
c.1930C>A (p.Leu644Ile)
c.2440C>A (p.Leu814Ile)
c.2101C>A (p.Leu701Ile)
c.2449C>A (p.Leu817Ile)
c.2241+316C>A (n.2241+316C>A)
c.2205+316C>A (n.2205+316C>A)
c.2479C>A (p.Leu827Ile)
c.2133+316C>A (n.2133+316C>A)
c.1680-5887C>A (n.1680-5887C>A)
c.2575C>A (p.Leu859Ile)
c.2641C>A (p.Leu881Ile)
c.2638C>A (p.Leu880Ile)
c.2611C>A (p.Leu871Ile)
c.2557C>A (p.Leu853Ile)
c.2530C>A (p.Leu844Ile)
c.2515C>A (p.Leu839Ile)
c.2122C>A (p.Leu708Ile)
c.2584C>A (p.Leu862Ile)
c.2521C>A (p.Leu841Ile)
c.2518C>A (p.Leu840Ile)
c.2476C>A (p.Leu826Ile)
c.1549C>A (p.Leu517Ile)
 gnomAD v4 COSMIC COSMIC COSMIC
20g.63406731delCA2573157284KCNQ2c.2587del (p.Leu863SerfsTer?)
c.2533del (p.Leu845SerfsTer?)
c.1930del (p.Leu644SerfsTer?)
c.2440del (p.Leu814SerfsTer?)
c.2101del (p.Leu701SerfsTer?)
c.2449del (p.Leu817SerfsTer?)
c.2241+316del (n.2241+316del)
c.2205+316del (n.2205+316del)
c.2479del (p.Leu827SerfsTer?)
c.2133+316del (n.2133+316del)
c.1680-5887del (n.1680-5887del)
c.2575del (p.Leu859SerfsTer?)
c.2641del (p.Leu881SerfsTer?)
c.2638del (p.Leu880SerfsTer?)
c.2611del (p.Leu871SerfsTer?)
c.2557del (p.Leu853SerfsTer?)
c.2530del (p.Leu844SerfsTer?)
c.2515del (p.Leu839SerfsTer?)
c.2122del (p.Leu708SerfsTer?)
c.2584del (p.Leu862SerfsTer?)
c.2521del (p.Leu841SerfsTer?)
c.2518del (p.Leu840SerfsTer?)
c.2476del (p.Leu826SerfsTer?)
c.1549del (p.Leu517SerfsTer?)
 ClinVar dbSNP
20g.63406731G>ACA511339222KCNQ2c.2586C>T (p.Asp862=)
c.2532C>T (p.Asp844=)
c.1929C>T (p.Asp643=)
c.2439C>T (p.Asp813=)
c.2100C>T (p.Asp700=)
c.2448C>T (p.Asp816=)
c.2241+315C>T (n.2241+315C>T)
c.2205+315C>T (n.2205+315C>T)
c.2478C>T (p.Asp826=)
c.2133+315C>T (n.2133+315C>T)
c.1680-5888C>T (n.1680-5888C>T)
c.2574C>T (p.Asp858=)
c.2640C>T (p.Asp880=)
c.2637C>T (p.Asp879=)
c.2610C>T (p.Asp870=)
c.2556C>T (p.Asp852=)
c.2529C>T (p.Asp843=)
c.2514C>T (p.Asp838=)
c.2121C>T (p.Asp707=)
c.2583C>T (p.Asp861=)
c.2520C>T (p.Asp840=)
c.2517C>T (p.Asp839=)
c.2475C>T (p.Asp825=)
c.1548C>T (p.Asp516=)
 gnomAD v4
20g.63406731G>CCA409636661KCNQ2c.2586C>G (p.Asp862Glu)
c.2532C>G (p.Asp844Glu)
c.1929C>G (p.Asp643Glu)
c.2439C>G (p.Asp813Glu)
c.2100C>G (p.Asp700Glu)
c.2448C>G (p.Asp816Glu)
c.2241+315C>G (n.2241+315C>G)
c.2205+315C>G (n.2205+315C>G)
c.2478C>G (p.Asp826Glu)
c.2133+315C>G (n.2133+315C>G)
c.1680-5888C>G (n.1680-5888C>G)
c.2574C>G (p.Asp858Glu)
c.2640C>G (p.Asp880Glu)
c.2637C>G (p.Asp879Glu)
c.2610C>G (p.Asp870Glu)
c.2556C>G (p.Asp852Glu)
c.2529C>G (p.Asp843Glu)
c.2514C>G (p.Asp838Glu)
c.2121C>G (p.Asp707Glu)
c.2583C>G (p.Asp861Glu)
c.2520C>G (p.Asp840Glu)
c.2517C>G (p.Asp839Glu)
c.2475C>G (p.Asp825Glu)
c.1548C>G (p.Asp516Glu)
20g.63406731G>TCA409636662KCNQ2c.2586C>A (p.Asp862Glu)
c.2532C>A (p.Asp844Glu)
c.1929C>A (p.Asp643Glu)
c.2439C>A (p.Asp813Glu)
c.2100C>A (p.Asp700Glu)
c.2448C>A (p.Asp816Glu)
c.2241+315C>A (n.2241+315C>A)
c.2205+315C>A (n.2205+315C>A)
c.2478C>A (p.Asp826Glu)
c.2133+315C>A (n.2133+315C>A)
c.1680-5888C>A (n.1680-5888C>A)
c.2574C>A (p.Asp858Glu)
c.2640C>A (p.Asp880Glu)
c.2637C>A (p.Asp879Glu)
c.2610C>A (p.Asp870Glu)
c.2556C>A (p.Asp852Glu)
c.2529C>A (p.Asp843Glu)
c.2514C>A (p.Asp838Glu)
c.2121C>A (p.Asp707Glu)
c.2583C>A (p.Asp861Glu)
c.2520C>A (p.Asp840Glu)
c.2517C>A (p.Asp839Glu)
c.2475C>A (p.Asp825Glu)
c.1548C>A (p.Asp516Glu)
 gnomAD v4
20g.63406732T>ACA409636665KCNQ2c.2585A>T (p.Asp862Val)
c.2531A>T (p.Asp844Val)
c.1928A>T (p.Asp643Val)
c.2438A>T (p.Asp813Val)
c.2099A>T (p.Asp700Val)
c.2447A>T (p.Asp816Val)
c.2241+314A>T (n.2241+314A>T)
c.2205+314A>T (n.2205+314A>T)
c.2477A>T (p.Asp826Val)
c.2133+314A>T (n.2133+314A>T)
c.1680-5889A>T (n.1680-5889A>T)
c.2573A>T (p.Asp858Val)
c.2639A>T (p.Asp880Val)
c.2636A>T (p.Asp879Val)
c.2609A>T (p.Asp870Val)
c.2555A>T (p.Asp852Val)
c.2528A>T (p.Asp843Val)
c.2513A>T (p.Asp838Val)
c.2120A>T (p.Asp707Val)
c.2582A>T (p.Asp861Val)
c.2519A>T (p.Asp840Val)
c.2516A>T (p.Asp839Val)
c.2474A>T (p.Asp825Val)
c.1547A>T (p.Asp516Val)
20g.63406732T>CCA409636667KCNQ2c.2585A>G (p.Asp862Gly)
c.2531A>G (p.Asp844Gly)
c.1928A>G (p.Asp643Gly)
c.2438A>G (p.Asp813Gly)
c.2099A>G (p.Asp700Gly)
c.2447A>G (p.Asp816Gly)
c.2241+314A>G (n.2241+314A>G)
c.2205+314A>G (n.2205+314A>G)
c.2477A>G (p.Asp826Gly)
c.2133+314A>G (n.2133+314A>G)
c.1680-5889A>G (n.1680-5889A>G)
c.2573A>G (p.Asp858Gly)
c.2639A>G (p.Asp880Gly)
c.2636A>G (p.Asp879Gly)
c.2609A>G (p.Asp870Gly)
c.2555A>G (p.Asp852Gly)
c.2528A>G (p.Asp843Gly)
c.2513A>G (p.Asp838Gly)
c.2120A>G (p.Asp707Gly)
c.2582A>G (p.Asp861Gly)
c.2519A>G (p.Asp840Gly)
c.2516A>G (p.Asp839Gly)
c.2474A>G (p.Asp825Gly)
c.1547A>G (p.Asp516Gly)
 ClinVar
20g.63406732T>GCA409636669KCNQ2c.2585A>C (p.Asp862Ala)
c.2531A>C (p.Asp844Ala)
c.1928A>C (p.Asp643Ala)
c.2438A>C (p.Asp813Ala)
c.2099A>C (p.Asp700Ala)
c.2447A>C (p.Asp816Ala)
c.2241+314A>C (n.2241+314A>C)
c.2205+314A>C (n.2205+314A>C)
c.2477A>C (p.Asp826Ala)
c.2133+314A>C (n.2133+314A>C)
c.1680-5889A>C (n.1680-5889A>C)
c.2573A>C (p.Asp858Ala)
c.2639A>C (p.Asp880Ala)
c.2636A>C (p.Asp879Ala)
c.2609A>C (p.Asp870Ala)
c.2555A>C (p.Asp852Ala)
c.2528A>C (p.Asp843Ala)
c.2513A>C (p.Asp838Ala)
c.2120A>C (p.Asp707Ala)
c.2582A>C (p.Asp861Ala)
c.2519A>C (p.Asp840Ala)
c.2516A>C (p.Asp839Ala)
c.2474A>C (p.Asp825Ala)
c.1547A>C (p.Asp516Ala)
 dbSNP gnomAD v2 gnomAD v4
20g.63406732T=CA2374774223KCNQ2c.2585A= (p.Asp862=)
c.2531A= (p.Asp844=)
c.1928A= (p.Asp643=)
c.2438A= (p.Asp813=)
c.2099A= (p.Asp700=)
c.2447A= (p.Asp816=)
c.2241+314A= (n.2241+314A=)
c.2205+314A= (n.2205+314A=)
c.2477A= (p.Asp826=)
c.2133+314A= (n.2133+314A=)
c.1680-5889A= (n.1680-5889A=)
c.2573A= (p.Asp858=)
c.2639A= (p.Asp880=)
c.2636A= (p.Asp879=)
c.2609A= (p.Asp870=)
c.2555A= (p.Asp852=)
c.2528A= (p.Asp843=)
c.2513A= (p.Asp838=)
c.2120A= (p.Asp707=)
c.2582A= (p.Asp861=)
c.2519A= (p.Asp840=)
c.2516A= (p.Asp839=)
c.2474A= (p.Asp825=)
c.1547A= (p.Asp516=)
20g.63406733C>ACA409636671KCNQ2c.2584G>T (p.Asp862Tyr)
c.2530G>T (p.Asp844Tyr)
c.1927G>T (p.Asp643Tyr)
c.2437G>T (p.Asp813Tyr)
c.2098G>T (p.Asp700Tyr)
c.2446G>T (p.Asp816Tyr)
c.2241+313G>T (n.2241+313G>T)
c.2205+313G>T (n.2205+313G>T)
c.2476G>T (p.Asp826Tyr)
c.2133+313G>T (n.2133+313G>T)
c.1680-5890G>T (n.1680-5890G>T)
c.2572G>T (p.Asp858Tyr)
c.2638G>T (p.Asp880Tyr)
c.2635G>T (p.Asp879Tyr)
c.2608G>T (p.Asp870Tyr)
c.2554G>T (p.Asp852Tyr)
c.2527G>T (p.Asp843Tyr)
c.2512G>T (p.Asp838Tyr)
c.2119G>T (p.Asp707Tyr)
c.2581G>T (p.Asp861Tyr)
c.2518G>T (p.Asp840Tyr)
c.2515G>T (p.Asp839Tyr)
c.2473G>T (p.Asp825Tyr)
c.1546G>T (p.Asp516Tyr)
 gnomAD v4
20g.63406733C>GCA409636675KCNQ2c.2584G>C (p.Asp862His)
c.2530G>C (p.Asp844His)
c.1927G>C (p.Asp643His)
c.2437G>C (p.Asp813His)
c.2098G>C (p.Asp700His)
c.2446G>C (p.Asp816His)
c.2241+313G>C (n.2241+313G>C)
c.2205+313G>C (n.2205+313G>C)
c.2476G>C (p.Asp826His)
c.2133+313G>C (n.2133+313G>C)
c.1680-5890G>C (n.1680-5890G>C)
c.2572G>C (p.Asp858His)
c.2638G>C (p.Asp880His)
c.2635G>C (p.Asp879His)
c.2608G>C (p.Asp870His)
c.2554G>C (p.Asp852His)
c.2527G>C (p.Asp843His)
c.2512G>C (p.Asp838His)
c.2119G>C (p.Asp707His)
c.2581G>C (p.Asp861His)
c.2518G>C (p.Asp840His)
c.2515G>C (p.Asp839His)
c.2473G>C (p.Asp825His)
c.1546G>C (p.Asp516His)
20g.63406733C>TCA409636673KCNQ2c.2584G>A (p.Asp862Asn)
c.2530G>A (p.Asp844Asn)
c.1927G>A (p.Asp643Asn)
c.2437G>A (p.Asp813Asn)
c.2098G>A (p.Asp700Asn)
c.2446G>A (p.Asp816Asn)
c.2241+313G>A (n.2241+313G>A)
c.2205+313G>A (n.2205+313G>A)
c.2476G>A (p.Asp826Asn)
c.2133+313G>A (n.2133+313G>A)
c.1680-5890G>A (n.1680-5890G>A)
c.2572G>A (p.Asp858Asn)
c.2638G>A (p.Asp880Asn)
c.2635G>A (p.Asp879Asn)
c.2608G>A (p.Asp870Asn)
c.2554G>A (p.Asp852Asn)
c.2527G>A (p.Asp843Asn)
c.2512G>A (p.Asp838Asn)
c.2119G>A (p.Asp707Asn)
c.2581G>A (p.Asp861Asn)
c.2518G>A (p.Asp840Asn)
c.2515G>A (p.Asp839Asn)
c.2473G>A (p.Asp825Asn)
c.1546G>A (p.Asp516Asn)
 gnomAD v4 COSMIC COSMIC COSMIC
20g.63406734G>ACA291815KCNQ2c.2583C>T (p.Ser861=)
c.2529C>T (p.Ser843=)
c.1926C>T (p.Ser642=)
c.2436C>T (p.Ser812=)
c.2097C>T (p.Ser699=)
c.2445C>T (p.Ser815=)
c.2241+312C>T (n.2241+312C>T)
c.2205+312C>T (n.2205+312C>T)
c.2475C>T (p.Ser825=)
c.2133+312C>T (n.2133+312C>T)
c.1680-5891C>T (n.1680-5891C>T)
c.2571C>T (p.Ser857=)
c.2637C>T (p.Ser879=)
c.2634C>T (p.Ser878=)
c.2607C>T (p.Ser869=)
c.2553C>T (p.Ser851=)
c.2526C>T (p.Ser842=)
c.2511C>T (p.Ser837=)
c.2118C>T (p.Ser706=)
c.2580C>T (p.Ser860=)
c.2517C>T (p.Ser839=)
c.2514C>T (p.Ser838=)
c.2472C>T (p.Ser824=)
c.1545C>T (p.Ser515=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406734G>CCA511339223KCNQ2c.2583C>G (p.Ser861=)
c.2529C>G (p.Ser843=)
c.1926C>G (p.Ser642=)
c.2436C>G (p.Ser812=)
c.2097C>G (p.Ser699=)
c.2445C>G (p.Ser815=)
c.2241+312C>G (n.2241+312C>G)
c.2205+312C>G (n.2205+312C>G)
c.2475C>G (p.Ser825=)
c.2133+312C>G (n.2133+312C>G)
c.1680-5891C>G (n.1680-5891C>G)
c.2571C>G (p.Ser857=)
c.2637C>G (p.Ser879=)
c.2634C>G (p.Ser878=)
c.2607C>G (p.Ser869=)
c.2553C>G (p.Ser851=)
c.2526C>G (p.Ser842=)
c.2511C>G (p.Ser837=)
c.2118C>G (p.Ser706=)
c.2580C>G (p.Ser860=)
c.2517C>G (p.Ser839=)
c.2514C>G (p.Ser838=)
c.2472C>G (p.Ser824=)
c.1545C>G (p.Ser515=)
20g.63406734G=CA2374774224KCNQ2c.2583C= (p.Ser861=)
c.2529C= (p.Ser843=)
c.1926C= (p.Ser642=)
c.2436C= (p.Ser812=)
c.2097C= (p.Ser699=)
c.2445C= (p.Ser815=)
c.2241+312C= (n.2241+312C=)
c.2205+312C= (n.2205+312C=)
c.2475C= (p.Ser825=)
c.2133+312C= (n.2133+312C=)
c.1680-5891C= (n.1680-5891C=)
c.2571C= (p.Ser857=)
c.2637C= (p.Ser879=)
c.2634C= (p.Ser878=)
c.2607C= (p.Ser869=)
c.2553C= (p.Ser851=)
c.2526C= (p.Ser842=)
c.2511C= (p.Ser837=)
c.2118C= (p.Ser706=)
c.2580C= (p.Ser860=)
c.2517C= (p.Ser839=)
c.2514C= (p.Ser838=)
c.2472C= (p.Ser824=)
c.1545C= (p.Ser515=)
20g.63406734G>TCA9958064KCNQ2c.2583C>A (p.Ser861=)
c.2529C>A (p.Ser843=)
c.1926C>A (p.Ser642=)
c.2436C>A (p.Ser812=)
c.2097C>A (p.Ser699=)
c.2445C>A (p.Ser815=)
c.2241+312C>A (n.2241+312C>A)
c.2205+312C>A (n.2205+312C>A)
c.2475C>A (p.Ser825=)
c.2133+312C>A (n.2133+312C>A)
c.1680-5891C>A (n.1680-5891C>A)
c.2571C>A (p.Ser857=)
c.2637C>A (p.Ser879=)
c.2634C>A (p.Ser878=)
c.2607C>A (p.Ser869=)
c.2553C>A (p.Ser851=)
c.2526C>A (p.Ser842=)
c.2511C>A (p.Ser837=)
c.2118C>A (p.Ser706=)
c.2580C>A (p.Ser860=)
c.2517C>A (p.Ser839=)
c.2514C>A (p.Ser838=)
c.2472C>A (p.Ser824=)
c.1545C>A (p.Ser515=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406735G>ACA409636680KCNQ2c.2582C>T (p.Ser861Phe)
c.2528C>T (p.Ser843Phe)
c.1925C>T (p.Ser642Phe)
c.2435C>T (p.Ser812Phe)
c.2096C>T (p.Ser699Phe)
c.2444C>T (p.Ser815Phe)
c.2241+311C>T (n.2241+311C>T)
c.2205+311C>T (n.2205+311C>T)
c.2474C>T (p.Ser825Phe)
c.2133+311C>T (n.2133+311C>T)
c.1680-5892C>T (n.1680-5892C>T)
c.2570C>T (p.Ser857Phe)
c.2636C>T (p.Ser879Phe)
c.2633C>T (p.Ser878Phe)
c.2606C>T (p.Ser869Phe)
c.2552C>T (p.Ser851Phe)
c.2525C>T (p.Ser842Phe)
c.2510C>T (p.Ser837Phe)
c.2117C>T (p.Ser706Phe)
c.2579C>T (p.Ser860Phe)
c.2516C>T (p.Ser839Phe)
c.2513C>T (p.Ser838Phe)
c.2471C>T (p.Ser824Phe)
c.1544C>T (p.Ser515Phe)
20g.63406735G>CCA409636681KCNQ2c.2582C>G (p.Ser861Cys)
c.2528C>G (p.Ser843Cys)
c.1925C>G (p.Ser642Cys)
c.2435C>G (p.Ser812Cys)
c.2096C>G (p.Ser699Cys)
c.2444C>G (p.Ser815Cys)
c.2241+311C>G (n.2241+311C>G)
c.2205+311C>G (n.2205+311C>G)
c.2474C>G (p.Ser825Cys)
c.2133+311C>G (n.2133+311C>G)
c.1680-5892C>G (n.1680-5892C>G)
c.2570C>G (p.Ser857Cys)
c.2636C>G (p.Ser879Cys)
c.2633C>G (p.Ser878Cys)
c.2606C>G (p.Ser869Cys)
c.2552C>G (p.Ser851Cys)
c.2525C>G (p.Ser842Cys)
c.2510C>G (p.Ser837Cys)
c.2117C>G (p.Ser706Cys)
c.2579C>G (p.Ser860Cys)
c.2516C>G (p.Ser839Cys)
c.2513C>G (p.Ser838Cys)
c.2471C>G (p.Ser824Cys)
c.1544C>G (p.Ser515Cys)
20g.63406735G>TCA409636682KCNQ2c.2582C>A (p.Ser861Tyr)
c.2528C>A (p.Ser843Tyr)
c.1925C>A (p.Ser642Tyr)
c.2435C>A (p.Ser812Tyr)
c.2096C>A (p.Ser699Tyr)
c.2444C>A (p.Ser815Tyr)
c.2241+311C>A (n.2241+311C>A)
c.2205+311C>A (n.2205+311C>A)
c.2474C>A (p.Ser825Tyr)
c.2133+311C>A (n.2133+311C>A)
c.1680-5892C>A (n.1680-5892C>A)
c.2570C>A (p.Ser857Tyr)
c.2636C>A (p.Ser879Tyr)
c.2633C>A (p.Ser878Tyr)
c.2606C>A (p.Ser869Tyr)
c.2552C>A (p.Ser851Tyr)
c.2525C>A (p.Ser842Tyr)
c.2510C>A (p.Ser837Tyr)
c.2117C>A (p.Ser706Tyr)
c.2579C>A (p.Ser860Tyr)
c.2516C>A (p.Ser839Tyr)
c.2513C>A (p.Ser838Tyr)
c.2471C>A (p.Ser824Tyr)
c.1544C>A (p.Ser515Tyr)
20g.63406736A=CA2374774225KCNQ2c.2581T= (p.Ser861=)
c.2527T= (p.Ser843=)
c.1924T= (p.Ser642=)
c.2434T= (p.Ser812=)
c.2095T= (p.Ser699=)
c.2443T= (p.Ser815=)
c.2241+310T= (n.2241+310T=)
c.2205+310T= (n.2205+310T=)
c.2473T= (p.Ser825=)
c.2133+310T= (n.2133+310T=)
c.1680-5893T= (n.1680-5893T=)
c.2569T= (p.Ser857=)
c.2635T= (p.Ser879=)
c.2632T= (p.Ser878=)
c.2605T= (p.Ser869=)
c.2551T= (p.Ser851=)
c.2524T= (p.Ser842=)
c.2509T= (p.Ser837=)
c.2116T= (p.Ser706=)
c.2578T= (p.Ser860=)
c.2515T= (p.Ser839=)
c.2512T= (p.Ser838=)
c.2470T= (p.Ser824=)
c.1543T= (p.Ser515=)
20g.63406736A>CCA409636685KCNQ2c.2581T>G (p.Ser861Ala)
c.2527T>G (p.Ser843Ala)
c.1924T>G (p.Ser642Ala)
c.2434T>G (p.Ser812Ala)
c.2095T>G (p.Ser699Ala)
c.2443T>G (p.Ser815Ala)
c.2241+310T>G (n.2241+310T>G)
c.2205+310T>G (n.2205+310T>G)
c.2473T>G (p.Ser825Ala)
c.2133+310T>G (n.2133+310T>G)
c.1680-5893T>G (n.1680-5893T>G)
c.2569T>G (p.Ser857Ala)
c.2635T>G (p.Ser879Ala)
c.2632T>G (p.Ser878Ala)
c.2605T>G (p.Ser869Ala)
c.2551T>G (p.Ser851Ala)
c.2524T>G (p.Ser842Ala)
c.2509T>G (p.Ser837Ala)
c.2116T>G (p.Ser706Ala)
c.2578T>G (p.Ser860Ala)
c.2515T>G (p.Ser839Ala)
c.2512T>G (p.Ser838Ala)
c.2470T>G (p.Ser824Ala)
c.1543T>G (p.Ser515Ala)
20g.63406736A>GCA409636687KCNQ2c.2581T>C (p.Ser861Pro)
c.2527T>C (p.Ser843Pro)
c.1924T>C (p.Ser642Pro)
c.2434T>C (p.Ser812Pro)
c.2095T>C (p.Ser699Pro)
c.2443T>C (p.Ser815Pro)
c.2241+310T>C (n.2241+310T>C)
c.2205+310T>C (n.2205+310T>C)
c.2473T>C (p.Ser825Pro)
c.2133+310T>C (n.2133+310T>C)
c.1680-5893T>C (n.1680-5893T>C)
c.2569T>C (p.Ser857Pro)
c.2635T>C (p.Ser879Pro)
c.2632T>C (p.Ser878Pro)
c.2605T>C (p.Ser869Pro)
c.2551T>C (p.Ser851Pro)
c.2524T>C (p.Ser842Pro)
c.2509T>C (p.Ser837Pro)
c.2116T>C (p.Ser706Pro)
c.2578T>C (p.Ser860Pro)
c.2515T>C (p.Ser839Pro)
c.2512T>C (p.Ser838Pro)
c.2470T>C (p.Ser824Pro)
c.1543T>C (p.Ser515Pro)
 dbSNP gnomAD v2
20g.63406736A>TCA409636688KCNQ2c.2581T>A (p.Ser861Thr)
c.2527T>A (p.Ser843Thr)
c.1924T>A (p.Ser642Thr)
c.2434T>A (p.Ser812Thr)
c.2095T>A (p.Ser699Thr)
c.2443T>A (p.Ser815Thr)
c.2241+310T>A (n.2241+310T>A)
c.2205+310T>A (n.2205+310T>A)
c.2473T>A (p.Ser825Thr)
c.2133+310T>A (n.2133+310T>A)
c.1680-5893T>A (n.1680-5893T>A)
c.2569T>A (p.Ser857Thr)
c.2635T>A (p.Ser879Thr)
c.2632T>A (p.Ser878Thr)
c.2605T>A (p.Ser869Thr)
c.2551T>A (p.Ser851Thr)
c.2524T>A (p.Ser842Thr)
c.2509T>A (p.Ser837Thr)
c.2116T>A (p.Ser706Thr)
c.2578T>A (p.Ser860Thr)
c.2515T>A (p.Ser839Thr)
c.2512T>A (p.Ser838Thr)
c.2470T>A (p.Ser824Thr)
c.1543T>A (p.Ser515Thr)
20g.63406737G>ACA511339224KCNQ2c.2580C>T (p.Asp860=)
c.2526C>T (p.Asp842=)
c.1923C>T (p.Asp641=)
c.2433C>T (p.Asp811=)
c.2094C>T (p.Asp698=)
c.2442C>T (p.Asp814=)
c.2241+309C>T (n.2241+309C>T)
c.2205+309C>T (n.2205+309C>T)
c.2472C>T (p.Asp824=)
c.2133+309C>T (n.2133+309C>T)
c.1680-5894C>T (n.1680-5894C>T)
c.2568C>T (p.Asp856=)
c.2634C>T (p.Asp878=)
c.2631C>T (p.Asp877=)
c.2604C>T (p.Asp868=)
c.2550C>T (p.Asp850=)
c.2523C>T (p.Asp841=)
c.2508C>T (p.Asp836=)
c.2115C>T (p.Asp705=)
c.2577C>T (p.Asp859=)
c.2514C>T (p.Asp838=)
c.2511C>T (p.Asp837=)
c.2469C>T (p.Asp823=)
c.1542C>T (p.Asp514=)
 dbSNP gnomAD v3 gnomAD v4
20g.63406737G>CCA409636690KCNQ2c.2580C>G (p.Asp860Glu)
c.2526C>G (p.Asp842Glu)
c.1923C>G (p.Asp641Glu)
c.2433C>G (p.Asp811Glu)
c.2094C>G (p.Asp698Glu)
c.2442C>G (p.Asp814Glu)
c.2241+309C>G (n.2241+309C>G)
c.2205+309C>G (n.2205+309C>G)
c.2472C>G (p.Asp824Glu)
c.2133+309C>G (n.2133+309C>G)
c.1680-5894C>G (n.1680-5894C>G)
c.2568C>G (p.Asp856Glu)
c.2634C>G (p.Asp878Glu)
c.2631C>G (p.Asp877Glu)
c.2604C>G (p.Asp868Glu)
c.2550C>G (p.Asp850Glu)
c.2523C>G (p.Asp841Glu)
c.2508C>G (p.Asp836Glu)
c.2115C>G (p.Asp705Glu)
c.2577C>G (p.Asp859Glu)
c.2514C>G (p.Asp838Glu)
c.2511C>G (p.Asp837Glu)
c.2469C>G (p.Asp823Glu)
c.1542C>G (p.Asp514Glu)
20g.63406737G=CA2374774226KCNQ2c.2580C= (p.Asp860=)
c.2526C= (p.Asp842=)
c.1923C= (p.Asp641=)
c.2433C= (p.Asp811=)
c.2094C= (p.Asp698=)
c.2442C= (p.Asp814=)
c.2241+309C= (n.2241+309C=)
c.2205+309C= (n.2205+309C=)
c.2472C= (p.Asp824=)
c.2133+309C= (n.2133+309C=)
c.1680-5894C= (n.1680-5894C=)
c.2568C= (p.Asp856=)
c.2634C= (p.Asp878=)
c.2631C= (p.Asp877=)
c.2604C= (p.Asp868=)
c.2550C= (p.Asp850=)
c.2523C= (p.Asp841=)
c.2508C= (p.Asp836=)
c.2115C= (p.Asp705=)
c.2577C= (p.Asp859=)
c.2514C= (p.Asp838=)
c.2511C= (p.Asp837=)
c.2469C= (p.Asp823=)
c.1542C= (p.Asp514=)
20g.63406737G>TCA409636692KCNQ2c.2580C>A (p.Asp860Glu)
c.2526C>A (p.Asp842Glu)
c.1923C>A (p.Asp641Glu)
c.2433C>A (p.Asp811Glu)
c.2094C>A (p.Asp698Glu)
c.2442C>A (p.Asp814Glu)
c.2241+309C>A (n.2241+309C>A)
c.2205+309C>A (n.2205+309C>A)
c.2472C>A (p.Asp824Glu)
c.2133+309C>A (n.2133+309C>A)
c.1680-5894C>A (n.1680-5894C>A)
c.2568C>A (p.Asp856Glu)
c.2634C>A (p.Asp878Glu)
c.2631C>A (p.Asp877Glu)
c.2604C>A (p.Asp868Glu)
c.2550C>A (p.Asp850Glu)
c.2523C>A (p.Asp841Glu)
c.2508C>A (p.Asp836Glu)
c.2115C>A (p.Asp705Glu)
c.2577C>A (p.Asp859Glu)
c.2514C>A (p.Asp838Glu)
c.2511C>A (p.Asp837Glu)
c.2469C>A (p.Asp823Glu)
c.1542C>A (p.Asp514Glu)
20g.63406738T>ACA409636698KCNQ2c.2579A>T (p.Asp860Val)
c.2525A>T (p.Asp842Val)
c.1922A>T (p.Asp641Val)
c.2432A>T (p.Asp811Val)
c.2093A>T (p.Asp698Val)
c.2441A>T (p.Asp814Val)
c.2241+308A>T (n.2241+308A>T)
c.2205+308A>T (n.2205+308A>T)
c.2471A>T (p.Asp824Val)
c.2133+308A>T (n.2133+308A>T)
c.1680-5895A>T (n.1680-5895A>T)
c.2567A>T (p.Asp856Val)
c.2633A>T (p.Asp878Val)
c.2630A>T (p.Asp877Val)
c.2603A>T (p.Asp868Val)
c.2549A>T (p.Asp850Val)
c.2522A>T (p.Asp841Val)
c.2507A>T (p.Asp836Val)
c.2114A>T (p.Asp705Val)
c.2576A>T (p.Asp859Val)
c.2513A>T (p.Asp838Val)
c.2510A>T (p.Asp837Val)
c.2468A>T (p.Asp823Val)
c.1541A>T (p.Asp514Val)
20g.63406738T>CCA409636696KCNQ2c.2579A>G (p.Asp860Gly)
c.2525A>G (p.Asp842Gly)
c.1922A>G (p.Asp641Gly)
c.2432A>G (p.Asp811Gly)
c.2093A>G (p.Asp698Gly)
c.2441A>G (p.Asp814Gly)
c.2241+308A>G (n.2241+308A>G)
c.2205+308A>G (n.2205+308A>G)
c.2471A>G (p.Asp824Gly)
c.2133+308A>G (n.2133+308A>G)
c.1680-5895A>G (n.1680-5895A>G)
c.2567A>G (p.Asp856Gly)
c.2633A>G (p.Asp878Gly)
c.2630A>G (p.Asp877Gly)
c.2603A>G (p.Asp868Gly)
c.2549A>G (p.Asp850Gly)
c.2522A>G (p.Asp841Gly)
c.2507A>G (p.Asp836Gly)
c.2114A>G (p.Asp705Gly)
c.2576A>G (p.Asp859Gly)
c.2513A>G (p.Asp838Gly)
c.2510A>G (p.Asp837Gly)
c.2468A>G (p.Asp823Gly)
c.1541A>G (p.Asp514Gly)
20g.63406738T>GCA409636695KCNQ2c.2579A>C (p.Asp860Ala)
c.2525A>C (p.Asp842Ala)
c.1922A>C (p.Asp641Ala)
c.2432A>C (p.Asp811Ala)
c.2093A>C (p.Asp698Ala)
c.2441A>C (p.Asp814Ala)
c.2241+308A>C (n.2241+308A>C)
c.2205+308A>C (n.2205+308A>C)
c.2471A>C (p.Asp824Ala)
c.2133+308A>C (n.2133+308A>C)
c.1680-5895A>C (n.1680-5895A>C)
c.2567A>C (p.Asp856Ala)
c.2633A>C (p.Asp878Ala)
c.2630A>C (p.Asp877Ala)
c.2603A>C (p.Asp868Ala)
c.2549A>C (p.Asp850Ala)
c.2522A>C (p.Asp841Ala)
c.2507A>C (p.Asp836Ala)
c.2114A>C (p.Asp705Ala)
c.2576A>C (p.Asp859Ala)
c.2513A>C (p.Asp838Ala)
c.2510A>C (p.Asp837Ala)
c.2468A>C (p.Asp823Ala)
c.1541A>C (p.Asp514Ala)
20g.63406739C>ACA409636701KCNQ2c.2578G>T (p.Asp860Tyr)
c.2524G>T (p.Asp842Tyr)
c.1921G>T (p.Asp641Tyr)
c.2431G>T (p.Asp811Tyr)
c.2092G>T (p.Asp698Tyr)
c.2440G>T (p.Asp814Tyr)
c.2241+307G>T (n.2241+307G>T)
c.2205+307G>T (n.2205+307G>T)
c.2470G>T (p.Asp824Tyr)
c.2133+307G>T (n.2133+307G>T)
c.1680-5896G>T (n.1680-5896G>T)
c.2566G>T (p.Asp856Tyr)
c.2632G>T (p.Asp878Tyr)
c.2629G>T (p.Asp877Tyr)
c.2602G>T (p.Asp868Tyr)
c.2548G>T (p.Asp850Tyr)
c.2521G>T (p.Asp841Tyr)
c.2506G>T (p.Asp836Tyr)
c.2113G>T (p.Asp705Tyr)
c.2575G>T (p.Asp859Tyr)
c.2512G>T (p.Asp838Tyr)
c.2509G>T (p.Asp837Tyr)
c.2467G>T (p.Asp823Tyr)
c.1540G>T (p.Asp514Tyr)
20g.63406739C>GCA409636702KCNQ2c.2578G>C (p.Asp860His)
c.2524G>C (p.Asp842His)
c.1921G>C (p.Asp641His)
c.2431G>C (p.Asp811His)
c.2092G>C (p.Asp698His)
c.2440G>C (p.Asp814His)
c.2241+307G>C (n.2241+307G>C)
c.2205+307G>C (n.2205+307G>C)
c.2470G>C (p.Asp824His)
c.2133+307G>C (n.2133+307G>C)
c.1680-5896G>C (n.1680-5896G>C)
c.2566G>C (p.Asp856His)
c.2632G>C (p.Asp878His)
c.2629G>C (p.Asp877His)
c.2602G>C (p.Asp868His)
c.2548G>C (p.Asp850His)
c.2521G>C (p.Asp841His)
c.2506G>C (p.Asp836His)
c.2113G>C (p.Asp705His)
c.2575G>C (p.Asp859His)
c.2512G>C (p.Asp838His)
c.2509G>C (p.Asp837His)
c.2467G>C (p.Asp823His)
c.1540G>C (p.Asp514His)
 ClinVar
20g.63406739C>TCA409636705KCNQ2c.2578G>A (p.Asp860Asn)
c.2524G>A (p.Asp842Asn)
c.1921G>A (p.Asp641Asn)
c.2431G>A (p.Asp811Asn)
c.2092G>A (p.Asp698Asn)
c.2440G>A (p.Asp814Asn)
c.2241+307G>A (n.2241+307G>A)
c.2205+307G>A (n.2205+307G>A)
c.2470G>A (p.Asp824Asn)
c.2133+307G>A (n.2133+307G>A)
c.1680-5896G>A (n.1680-5896G>A)
c.2566G>A (p.Asp856Asn)
c.2632G>A (p.Asp878Asn)
c.2629G>A (p.Asp877Asn)
c.2602G>A (p.Asp868Asn)
c.2548G>A (p.Asp850Asn)
c.2521G>A (p.Asp841Asn)
c.2506G>A (p.Asp836Asn)
c.2113G>A (p.Asp705Asn)
c.2575G>A (p.Asp859Asn)
c.2512G>A (p.Asp838Asn)
c.2509G>A (p.Asp837Asn)
c.2467G>A (p.Asp823Asn)
c.1540G>A (p.Asp514Asn)
 gnomAD v4
20g.63406740G>ACA9958065KCNQ2c.2577C>T (p.Thr859=)
c.2523C>T (p.Thr841=)
c.1920C>T (p.Thr640=)
c.2430C>T (p.Thr810=)
c.2091C>T (p.Thr697=)
c.2439C>T (p.Thr813=)
c.2241+306C>T (n.2241+306C>T)
c.2205+306C>T (n.2205+306C>T)
c.2469C>T (p.Thr823=)
c.2133+306C>T (n.2133+306C>T)
c.1680-5897C>T (n.1680-5897C>T)
c.2565C>T (p.Thr855=)
c.2631C>T (p.Thr877=)
c.2628C>T (p.Thr876=)
c.2601C>T (p.Thr867=)
c.2547C>T (p.Thr849=)
c.2520C>T (p.Thr840=)
c.2505C>T (p.Thr835=)
c.2112C>T (p.Thr704=)
c.2574C>T (p.Thr858=)
c.2511C>T (p.Thr837=)
c.2508C>T (p.Thr836=)
c.2466C>T (p.Thr822=)
c.1539C>T (p.Thr513=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406740G>CCA511339225KCNQ2c.2577C>G (p.Thr859=)
c.2523C>G (p.Thr841=)
c.1920C>G (p.Thr640=)
c.2430C>G (p.Thr810=)
c.2091C>G (p.Thr697=)
c.2439C>G (p.Thr813=)
c.2241+306C>G (n.2241+306C>G)
c.2205+306C>G (n.2205+306C>G)
c.2469C>G (p.Thr823=)
c.2133+306C>G (n.2133+306C>G)
c.1680-5897C>G (n.1680-5897C>G)
c.2565C>G (p.Thr855=)
c.2631C>G (p.Thr877=)
c.2628C>G (p.Thr876=)
c.2601C>G (p.Thr867=)
c.2547C>G (p.Thr849=)
c.2520C>G (p.Thr840=)
c.2505C>G (p.Thr835=)
c.2112C>G (p.Thr704=)
c.2574C>G (p.Thr858=)
c.2511C>G (p.Thr837=)
c.2508C>G (p.Thr836=)
c.2466C>G (p.Thr822=)
c.1539C>G (p.Thr513=)
 dbSNP
20g.63406740G=CA2374774227KCNQ2c.2577C= (p.Thr859=)
c.2523C= (p.Thr841=)
c.1920C= (p.Thr640=)
c.2430C= (p.Thr810=)
c.2091C= (p.Thr697=)
c.2439C= (p.Thr813=)
c.2241+306C= (n.2241+306C=)
c.2205+306C= (n.2205+306C=)
c.2469C= (p.Thr823=)
c.2133+306C= (n.2133+306C=)
c.1680-5897C= (n.1680-5897C=)
c.2565C= (p.Thr855=)
c.2631C= (p.Thr877=)
c.2628C= (p.Thr876=)
c.2601C= (p.Thr867=)
c.2547C= (p.Thr849=)
c.2520C= (p.Thr840=)
c.2505C= (p.Thr835=)
c.2112C= (p.Thr704=)
c.2574C= (p.Thr858=)
c.2511C= (p.Thr837=)
c.2508C= (p.Thr836=)
c.2466C= (p.Thr822=)
c.1539C= (p.Thr513=)
20g.63406740G>TCA511339226KCNQ2c.2577C>A (p.Thr859=)
c.2523C>A (p.Thr841=)
c.1920C>A (p.Thr640=)
c.2430C>A (p.Thr810=)
c.2091C>A (p.Thr697=)
c.2439C>A (p.Thr813=)
c.2241+306C>A (n.2241+306C>A)
c.2205+306C>A (n.2205+306C>A)
c.2469C>A (p.Thr823=)
c.2133+306C>A (n.2133+306C>A)
c.1680-5897C>A (n.1680-5897C>A)
c.2565C>A (p.Thr855=)
c.2631C>A (p.Thr877=)
c.2628C>A (p.Thr876=)
c.2601C>A (p.Thr867=)
c.2547C>A (p.Thr849=)
c.2520C>A (p.Thr840=)
c.2505C>A (p.Thr835=)
c.2112C>A (p.Thr704=)
c.2574C>A (p.Thr858=)
c.2511C>A (p.Thr837=)
c.2508C>A (p.Thr836=)
c.2466C>A (p.Thr822=)
c.1539C>A (p.Thr513=)
20g.63406741G>ACA409636709KCNQ2c.2576C>T (p.Thr859Ile)
c.2522C>T (p.Thr841Ile)
c.1919C>T (p.Thr640Ile)
c.2429C>T (p.Thr810Ile)
c.2090C>T (p.Thr697Ile)
c.2438C>T (p.Thr813Ile)
c.2241+305C>T (n.2241+305C>T)
c.2205+305C>T (n.2205+305C>T)
c.2468C>T (p.Thr823Ile)
c.2133+305C>T (n.2133+305C>T)
c.1680-5898C>T (n.1680-5898C>T)
c.2564C>T (p.Thr855Ile)
c.2630C>T (p.Thr877Ile)
c.2627C>T (p.Thr876Ile)
c.2600C>T (p.Thr867Ile)
c.2546C>T (p.Thr849Ile)
c.2519C>T (p.Thr840Ile)
c.2504C>T (p.Thr835Ile)
c.2111C>T (p.Thr704Ile)
c.2573C>T (p.Thr858Ile)
c.2510C>T (p.Thr837Ile)
c.2507C>T (p.Thr836Ile)
c.2465C>T (p.Thr822Ile)
c.1538C>T (p.Thr513Ile)
20g.63406741G>CCA409636710KCNQ2c.2576C>G (p.Thr859Ser)
c.2522C>G (p.Thr841Ser)
c.1919C>G (p.Thr640Ser)
c.2429C>G (p.Thr810Ser)
c.2090C>G (p.Thr697Ser)
c.2438C>G (p.Thr813Ser)
c.2241+305C>G (n.2241+305C>G)
c.2205+305C>G (n.2205+305C>G)
c.2468C>G (p.Thr823Ser)
c.2133+305C>G (n.2133+305C>G)
c.1680-5898C>G (n.1680-5898C>G)
c.2564C>G (p.Thr855Ser)
c.2630C>G (p.Thr877Ser)
c.2627C>G (p.Thr876Ser)
c.2600C>G (p.Thr867Ser)
c.2546C>G (p.Thr849Ser)
c.2519C>G (p.Thr840Ser)
c.2504C>G (p.Thr835Ser)
c.2111C>G (p.Thr704Ser)
c.2573C>G (p.Thr858Ser)
c.2510C>G (p.Thr837Ser)
c.2507C>G (p.Thr836Ser)
c.2465C>G (p.Thr822Ser)
c.1538C>G (p.Thr513Ser)
20g.63406741G>TCA409636711KCNQ2c.2576C>A (p.Thr859Asn)
c.2522C>A (p.Thr841Asn)
c.1919C>A (p.Thr640Asn)
c.2429C>A (p.Thr810Asn)
c.2090C>A (p.Thr697Asn)
c.2438C>A (p.Thr813Asn)
c.2241+305C>A (n.2241+305C>A)
c.2205+305C>A (n.2205+305C>A)
c.2468C>A (p.Thr823Asn)
c.2133+305C>A (n.2133+305C>A)
c.1680-5898C>A (n.1680-5898C>A)
c.2564C>A (p.Thr855Asn)
c.2630C>A (p.Thr877Asn)
c.2627C>A (p.Thr876Asn)
c.2600C>A (p.Thr867Asn)
c.2546C>A (p.Thr849Asn)
c.2519C>A (p.Thr840Asn)
c.2504C>A (p.Thr835Asn)
c.2111C>A (p.Thr704Asn)
c.2573C>A (p.Thr858Asn)
c.2510C>A (p.Thr837Asn)
c.2507C>A (p.Thr836Asn)
c.2465C>A (p.Thr822Asn)
c.1538C>A (p.Thr513Asn)
 gnomAD v4
20g.63406742T>ACA409636714KCNQ2c.2575A>T (p.Thr859Ser)
c.2521A>T (p.Thr841Ser)
c.1918A>T (p.Thr640Ser)
c.2428A>T (p.Thr810Ser)
c.2089A>T (p.Thr697Ser)
c.2437A>T (p.Thr813Ser)
c.2241+304A>T (n.2241+304A>T)
c.2205+304A>T (n.2205+304A>T)
c.2467A>T (p.Thr823Ser)
c.2133+304A>T (n.2133+304A>T)
c.1680-5899A>T (n.1680-5899A>T)
c.2563A>T (p.Thr855Ser)
c.2629A>T (p.Thr877Ser)
c.2626A>T (p.Thr876Ser)
c.2599A>T (p.Thr867Ser)
c.2545A>T (p.Thr849Ser)
c.2518A>T (p.Thr840Ser)
c.2503A>T (p.Thr835Ser)
c.2110A>T (p.Thr704Ser)
c.2572A>T (p.Thr858Ser)
c.2509A>T (p.Thr837Ser)
c.2506A>T (p.Thr836Ser)
c.2464A>T (p.Thr822Ser)
c.1537A>T (p.Thr513Ser)
20g.63406742T>CCA409636716KCNQ2c.2575A>G (p.Thr859Ala)
c.2521A>G (p.Thr841Ala)
c.1918A>G (p.Thr640Ala)
c.2428A>G (p.Thr810Ala)
c.2089A>G (p.Thr697Ala)
c.2437A>G (p.Thr813Ala)
c.2241+304A>G (n.2241+304A>G)
c.2205+304A>G (n.2205+304A>G)
c.2467A>G (p.Thr823Ala)
c.2133+304A>G (n.2133+304A>G)
c.1680-5899A>G (n.1680-5899A>G)
c.2563A>G (p.Thr855Ala)
c.2629A>G (p.Thr877Ala)
c.2626A>G (p.Thr876Ala)
c.2599A>G (p.Thr867Ala)
c.2545A>G (p.Thr849Ala)
c.2518A>G (p.Thr840Ala)
c.2503A>G (p.Thr835Ala)
c.2110A>G (p.Thr704Ala)
c.2572A>G (p.Thr858Ala)
c.2509A>G (p.Thr837Ala)
c.2506A>G (p.Thr836Ala)
c.2464A>G (p.Thr822Ala)
c.1537A>G (p.Thr513Ala)
20g.63406742T>GCA409636718KCNQ2c.2575A>C (p.Thr859Pro)
c.2521A>C (p.Thr841Pro)
c.1918A>C (p.Thr640Pro)
c.2428A>C (p.Thr810Pro)
c.2089A>C (p.Thr697Pro)
c.2437A>C (p.Thr813Pro)
c.2241+304A>C (n.2241+304A>C)
c.2205+304A>C (n.2205+304A>C)
c.2467A>C (p.Thr823Pro)
c.2133+304A>C (n.2133+304A>C)
c.1680-5899A>C (n.1680-5899A>C)
c.2563A>C (p.Thr855Pro)
c.2629A>C (p.Thr877Pro)
c.2626A>C (p.Thr876Pro)
c.2599A>C (p.Thr867Pro)
c.2545A>C (p.Thr849Pro)
c.2518A>C (p.Thr840Pro)
c.2503A>C (p.Thr835Pro)
c.2110A>C (p.Thr704Pro)
c.2572A>C (p.Thr858Pro)
c.2509A>C (p.Thr837Pro)
c.2506A>C (p.Thr836Pro)
c.2464A>C (p.Thr822Pro)
c.1537A>C (p.Thr513Pro)
20g.63406743G>ACA511339227KCNQ2c.2574C>T (p.Asp858=)
c.2520C>T (p.Asp840=)
c.1917C>T (p.Asp639=)
c.2427C>T (p.Asp809=)
c.2088C>T (p.Asp696=)
c.2436C>T (p.Asp812=)
c.2241+303C>T (n.2241+303C>T)
c.2205+303C>T (n.2205+303C>T)
c.2466C>T (p.Asp822=)
c.2133+303C>T (n.2133+303C>T)
c.1680-5900C>T (n.1680-5900C>T)
c.2562C>T (p.Asp854=)
c.2628C>T (p.Asp876=)
c.2625C>T (p.Asp875=)
c.2598C>T (p.Asp866=)
c.2544C>T (p.Asp848=)
c.2517C>T (p.Asp839=)
c.2502C>T (p.Asp834=)
c.2109C>T (p.Asp703=)
c.2571C>T (p.Asp857=)
c.2508C>T (p.Asp836=)
c.2505C>T (p.Asp835=)
c.2463C>T (p.Asp821=)
c.1536C>T (p.Asp512=)
 dbSNP
20g.63406743G>CCA409636720KCNQ2c.2574C>G (p.Asp858Glu)
c.2520C>G (p.Asp840Glu)
c.1917C>G (p.Asp639Glu)
c.2427C>G (p.Asp809Glu)
c.2088C>G (p.Asp696Glu)
c.2436C>G (p.Asp812Glu)
c.2241+303C>G (n.2241+303C>G)
c.2205+303C>G (n.2205+303C>G)
c.2466C>G (p.Asp822Glu)
c.2133+303C>G (n.2133+303C>G)
c.1680-5900C>G (n.1680-5900C>G)
c.2562C>G (p.Asp854Glu)
c.2628C>G (p.Asp876Glu)
c.2625C>G (p.Asp875Glu)
c.2598C>G (p.Asp866Glu)
c.2544C>G (p.Asp848Glu)
c.2517C>G (p.Asp839Glu)
c.2502C>G (p.Asp834Glu)
c.2109C>G (p.Asp703Glu)
c.2571C>G (p.Asp857Glu)
c.2508C>G (p.Asp836Glu)
c.2505C>G (p.Asp835Glu)
c.2463C>G (p.Asp821Glu)
c.1536C>G (p.Asp512Glu)
20g.63406743G=CA2374774228KCNQ2c.2574C= (p.Asp858=)
c.2520C= (p.Asp840=)
c.1917C= (p.Asp639=)
c.2427C= (p.Asp809=)
c.2088C= (p.Asp696=)
c.2436C= (p.Asp812=)
c.2241+303C= (n.2241+303C=)
c.2205+303C= (n.2205+303C=)
c.2466C= (p.Asp822=)
c.2133+303C= (n.2133+303C=)
c.1680-5900C= (n.1680-5900C=)
c.2562C= (p.Asp854=)
c.2628C= (p.Asp876=)
c.2625C= (p.Asp875=)
c.2598C= (p.Asp866=)
c.2544C= (p.Asp848=)
c.2517C= (p.Asp839=)
c.2502C= (p.Asp834=)
c.2109C= (p.Asp703=)
c.2571C= (p.Asp857=)
c.2508C= (p.Asp836=)
c.2505C= (p.Asp835=)
c.2463C= (p.Asp821=)
c.1536C= (p.Asp512=)
20g.63406743G>TCA409636722KCNQ2c.2574C>A (p.Asp858Glu)
c.2520C>A (p.Asp840Glu)
c.1917C>A (p.Asp639Glu)
c.2427C>A (p.Asp809Glu)
c.2088C>A (p.Asp696Glu)
c.2436C>A (p.Asp812Glu)
c.2241+303C>A (n.2241+303C>A)
c.2205+303C>A (n.2205+303C>A)
c.2466C>A (p.Asp822Glu)
c.2133+303C>A (n.2133+303C>A)
c.1680-5900C>A (n.1680-5900C>A)
c.2562C>A (p.Asp854Glu)
c.2628C>A (p.Asp876Glu)
c.2625C>A (p.Asp875Glu)
c.2598C>A (p.Asp866Glu)
c.2544C>A (p.Asp848Glu)
c.2517C>A (p.Asp839Glu)
c.2502C>A (p.Asp834Glu)
c.2109C>A (p.Asp703Glu)
c.2571C>A (p.Asp857Glu)
c.2508C>A (p.Asp836Glu)
c.2505C>A (p.Asp835Glu)
c.2463C>A (p.Asp821Glu)
c.1536C>A (p.Asp512Glu)
20g.63406744T>ACA409636726KCNQ2c.2573A>T (p.Asp858Val)
c.2519A>T (p.Asp840Val)
c.1916A>T (p.Asp639Val)
c.2426A>T (p.Asp809Val)
c.2087A>T (p.Asp696Val)
c.2435A>T (p.Asp812Val)
c.2241+302A>T (n.2241+302A>T)
c.2205+302A>T (n.2205+302A>T)
c.2465A>T (p.Asp822Val)
c.2133+302A>T (n.2133+302A>T)
c.1680-5901A>T (n.1680-5901A>T)
c.2561A>T (p.Asp854Val)
c.2627A>T (p.Asp876Val)
c.2624A>T (p.Asp875Val)
c.2597A>T (p.Asp866Val)
c.2543A>T (p.Asp848Val)
c.2516A>T (p.Asp839Val)
c.2501A>T (p.Asp834Val)
c.2108A>T (p.Asp703Val)
c.2570A>T (p.Asp857Val)
c.2507A>T (p.Asp836Val)
c.2504A>T (p.Asp835Val)
c.2462A>T (p.Asp821Val)
c.1535A>T (p.Asp512Val)
20g.63406744T>CCA409636728KCNQ2c.2573A>G (p.Asp858Gly)
c.2519A>G (p.Asp840Gly)
c.1916A>G (p.Asp639Gly)
c.2426A>G (p.Asp809Gly)
c.2087A>G (p.Asp696Gly)
c.2435A>G (p.Asp812Gly)
c.2241+302A>G (n.2241+302A>G)
c.2205+302A>G (n.2205+302A>G)
c.2465A>G (p.Asp822Gly)
c.2133+302A>G (n.2133+302A>G)
c.1680-5901A>G (n.1680-5901A>G)
c.2561A>G (p.Asp854Gly)
c.2627A>G (p.Asp876Gly)
c.2624A>G (p.Asp875Gly)
c.2597A>G (p.Asp866Gly)
c.2543A>G (p.Asp848Gly)
c.2516A>G (p.Asp839Gly)
c.2501A>G (p.Asp834Gly)
c.2108A>G (p.Asp703Gly)
c.2570A>G (p.Asp857Gly)
c.2507A>G (p.Asp836Gly)
c.2504A>G (p.Asp835Gly)
c.2462A>G (p.Asp821Gly)
c.1535A>G (p.Asp512Gly)
20g.63406744T>GCA409636724KCNQ2c.2573A>C (p.Asp858Ala)
c.2519A>C (p.Asp840Ala)
c.1916A>C (p.Asp639Ala)
c.2426A>C (p.Asp809Ala)
c.2087A>C (p.Asp696Ala)
c.2435A>C (p.Asp812Ala)
c.2241+302A>C (n.2241+302A>C)
c.2205+302A>C (n.2205+302A>C)
c.2465A>C (p.Asp822Ala)
c.2133+302A>C (n.2133+302A>C)
c.1680-5901A>C (n.1680-5901A>C)
c.2561A>C (p.Asp854Ala)
c.2627A>C (p.Asp876Ala)
c.2624A>C (p.Asp875Ala)
c.2597A>C (p.Asp866Ala)
c.2543A>C (p.Asp848Ala)
c.2516A>C (p.Asp839Ala)
c.2501A>C (p.Asp834Ala)
c.2108A>C (p.Asp703Ala)
c.2570A>C (p.Asp857Ala)
c.2507A>C (p.Asp836Ala)
c.2504A>C (p.Asp835Ala)
c.2462A>C (p.Asp821Ala)
c.1535A>C (p.Asp512Ala)
20g.63406745C>ACA409636730KCNQ2c.2572G>T (p.Asp858Tyr)
c.2518G>T (p.Asp840Tyr)
c.1915G>T (p.Asp639Tyr)
c.2425G>T (p.Asp809Tyr)
c.2086G>T (p.Asp696Tyr)
c.2434G>T (p.Asp812Tyr)
c.2241+301G>T (n.2241+301G>T)
c.2205+301G>T (n.2205+301G>T)
c.2464G>T (p.Asp822Tyr)
c.2133+301G>T (n.2133+301G>T)
c.1680-5902G>T (n.1680-5902G>T)
c.2560G>T (p.Asp854Tyr)
c.2626G>T (p.Asp876Tyr)
c.2623G>T (p.Asp875Tyr)
c.2596G>T (p.Asp866Tyr)
c.2542G>T (p.Asp848Tyr)
c.2515G>T (p.Asp839Tyr)
c.2500G>T (p.Asp834Tyr)
c.2107G>T (p.Asp703Tyr)
c.2569G>T (p.Asp857Tyr)
c.2506G>T (p.Asp836Tyr)
c.2503G>T (p.Asp835Tyr)
c.2461G>T (p.Asp821Tyr)
c.1534G>T (p.Asp512Tyr)
20g.63406745C>GCA409636732KCNQ2c.2572G>C (p.Asp858His)
c.2518G>C (p.Asp840His)
c.1915G>C (p.Asp639His)
c.2425G>C (p.Asp809His)
c.2086G>C (p.Asp696His)
c.2434G>C (p.Asp812His)
c.2241+301G>C (n.2241+301G>C)
c.2205+301G>C (n.2205+301G>C)
c.2464G>C (p.Asp822His)
c.2133+301G>C (n.2133+301G>C)
c.1680-5902G>C (n.1680-5902G>C)
c.2560G>C (p.Asp854His)
c.2626G>C (p.Asp876His)
c.2623G>C (p.Asp875His)
c.2596G>C (p.Asp866His)
c.2542G>C (p.Asp848His)
c.2515G>C (p.Asp839His)
c.2500G>C (p.Asp834His)
c.2107G>C (p.Asp703His)
c.2569G>C (p.Asp857His)
c.2506G>C (p.Asp836His)
c.2503G>C (p.Asp835His)
c.2461G>C (p.Asp821His)
c.1534G>C (p.Asp512His)
20g.63406745C>TCA409636733KCNQ2c.2572G>A (p.Asp858Asn)
c.2518G>A (p.Asp840Asn)
c.1915G>A (p.Asp639Asn)
c.2425G>A (p.Asp809Asn)
c.2086G>A (p.Asp696Asn)
c.2434G>A (p.Asp812Asn)
c.2241+301G>A (n.2241+301G>A)
c.2205+301G>A (n.2205+301G>A)
c.2464G>A (p.Asp822Asn)
c.2133+301G>A (n.2133+301G>A)
c.1680-5902G>A (n.1680-5902G>A)
c.2560G>A (p.Asp854Asn)
c.2626G>A (p.Asp876Asn)
c.2623G>A (p.Asp875Asn)
c.2596G>A (p.Asp866Asn)
c.2542G>A (p.Asp848Asn)
c.2515G>A (p.Asp839Asn)
c.2500G>A (p.Asp834Asn)
c.2107G>A (p.Asp703Asn)
c.2569G>A (p.Asp857Asn)
c.2506G>A (p.Asp836Asn)
c.2503G>A (p.Asp835Asn)
c.2461G>A (p.Asp821Asn)
c.1534G>A (p.Asp512Asn)
20g.63406746T>ACA511339228KCNQ2c.2571A>T (p.Ser857=)
c.2517A>T (p.Ser839=)
c.1914A>T (p.Ser638=)
c.2424A>T (p.Ser808=)
c.2085A>T (p.Ser695=)
c.2433A>T (p.Ser811=)
c.2241+300A>T (n.2241+300A>T)
c.2205+300A>T (n.2205+300A>T)
c.2463A>T (p.Ser821=)
c.2133+300A>T (n.2133+300A>T)
c.1680-5903A>T (n.1680-5903A>T)
c.2559A>T (p.Ser853=)
c.2625A>T (p.Ser875=)
c.2622A>T (p.Ser874=)
c.2595A>T (p.Ser865=)
c.2541A>T (p.Ser847=)
c.2514A>T (p.Ser838=)
c.2499A>T (p.Ser833=)
c.2106A>T (p.Ser702=)
c.2568A>T (p.Ser856=)
c.2505A>T (p.Ser835=)
c.2502A>T (p.Ser834=)
c.2460A>T (p.Ser820=)
c.1533A>T (p.Ser511=)
20g.63406746T>CCA511339229KCNQ2c.2571A>G (p.Ser857=)
c.2517A>G (p.Ser839=)
c.1914A>G (p.Ser638=)
c.2424A>G (p.Ser808=)
c.2085A>G (p.Ser695=)
c.2433A>G (p.Ser811=)
c.2241+300A>G (n.2241+300A>G)
c.2205+300A>G (n.2205+300A>G)
c.2463A>G (p.Ser821=)
c.2133+300A>G (n.2133+300A>G)
c.1680-5903A>G (n.1680-5903A>G)
c.2559A>G (p.Ser853=)
c.2625A>G (p.Ser875=)
c.2622A>G (p.Ser874=)
c.2595A>G (p.Ser865=)
c.2541A>G (p.Ser847=)
c.2514A>G (p.Ser838=)
c.2499A>G (p.Ser833=)
c.2106A>G (p.Ser702=)
c.2568A>G (p.Ser856=)
c.2505A>G (p.Ser835=)
c.2502A>G (p.Ser834=)
c.2460A>G (p.Ser820=)
c.1533A>G (p.Ser511=)
20g.63406746T>GCA511339230KCNQ2c.2571A>C (p.Ser857=)
c.2517A>C (p.Ser839=)
c.1914A>C (p.Ser638=)
c.2424A>C (p.Ser808=)
c.2085A>C (p.Ser695=)
c.2433A>C (p.Ser811=)
c.2241+300A>C (n.2241+300A>C)
c.2205+300A>C (n.2205+300A>C)
c.2463A>C (p.Ser821=)
c.2133+300A>C (n.2133+300A>C)
c.1680-5903A>C (n.1680-5903A>C)
c.2559A>C (p.Ser853=)
c.2625A>C (p.Ser875=)
c.2622A>C (p.Ser874=)
c.2595A>C (p.Ser865=)
c.2541A>C (p.Ser847=)
c.2514A>C (p.Ser838=)
c.2499A>C (p.Ser833=)
c.2106A>C (p.Ser702=)
c.2568A>C (p.Ser856=)
c.2505A>C (p.Ser835=)
c.2502A>C (p.Ser834=)
c.2460A>C (p.Ser820=)
c.1533A>C (p.Ser511=)
20g.63406747G>ACA409636735KCNQ2c.2570C>T (p.Ser857Leu)
c.2516C>T (p.Ser839Leu)
c.1913C>T (p.Ser638Leu)
c.2423C>T (p.Ser808Leu)
c.2084C>T (p.Ser695Leu)
c.2432C>T (p.Ser811Leu)
c.2241+299C>T (n.2241+299C>T)
c.2205+299C>T (n.2205+299C>T)
c.2462C>T (p.Ser821Leu)
c.2133+299C>T (n.2133+299C>T)
c.1680-5904C>T (n.1680-5904C>T)
c.2558C>T (p.Ser853Leu)
c.2624C>T (p.Ser875Leu)
c.2621C>T (p.Ser874Leu)
c.2594C>T (p.Ser865Leu)
c.2540C>T (p.Ser847Leu)
c.2513C>T (p.Ser838Leu)
c.2498C>T (p.Ser833Leu)
c.2105C>T (p.Ser702Leu)
c.2567C>T (p.Ser856Leu)
c.2504C>T (p.Ser835Leu)
c.2501C>T (p.Ser834Leu)
c.2459C>T (p.Ser820Leu)
c.1532C>T (p.Ser511Leu)
 COSMIC COSMIC COSMIC
20g.63406747G>CCA409636737KCNQ2c.2570C>G (p.Ser857Ter)
c.2516C>G (p.Ser839Ter)
c.1913C>G (p.Ser638Ter)
c.2423C>G (p.Ser808Ter)
c.2084C>G (p.Ser695Ter)
c.2432C>G (p.Ser811Ter)
c.2241+299C>G (n.2241+299C>G)
c.2205+299C>G (n.2205+299C>G)
c.2462C>G (p.Ser821Ter)
c.2133+299C>G (n.2133+299C>G)
c.1680-5904C>G (n.1680-5904C>G)
c.2558C>G (p.Ser853Ter)
c.2624C>G (p.Ser875Ter)
c.2621C>G (p.Ser874Ter)
c.2594C>G (p.Ser865Ter)
c.2540C>G (p.Ser847Ter)
c.2513C>G (p.Ser838Ter)
c.2498C>G (p.Ser833Ter)
c.2105C>G (p.Ser702Ter)
c.2567C>G (p.Ser856Ter)
c.2504C>G (p.Ser835Ter)
c.2501C>G (p.Ser834Ter)
c.2459C>G (p.Ser820Ter)
c.1532C>G (p.Ser511Ter)
20g.63406747G=CA2374774229KCNQ2c.2570C= (p.Ser857=)
c.2516C= (p.Ser839=)
c.1913C= (p.Ser638=)
c.2423C= (p.Ser808=)
c.2084C= (p.Ser695=)
c.2432C= (p.Ser811=)
c.2241+299C= (n.2241+299C=)
c.2205+299C= (n.2205+299C=)
c.2462C= (p.Ser821=)
c.2133+299C= (n.2133+299C=)
c.1680-5904C= (n.1680-5904C=)
c.2558C= (p.Ser853=)
c.2624C= (p.Ser875=)
c.2621C= (p.Ser874=)
c.2594C= (p.Ser865=)
c.2540C= (p.Ser847=)
c.2513C= (p.Ser838=)
c.2498C= (p.Ser833=)
c.2105C= (p.Ser702=)
c.2567C= (p.Ser856=)
c.2504C= (p.Ser835=)
c.2501C= (p.Ser834=)
c.2459C= (p.Ser820=)
c.1532C= (p.Ser511=)
20g.63406747G>TCA409636739KCNQ2c.2570C>A (p.Ser857Ter)
c.2516C>A (p.Ser839Ter)
c.1913C>A (p.Ser638Ter)
c.2423C>A (p.Ser808Ter)
c.2084C>A (p.Ser695Ter)
c.2432C>A (p.Ser811Ter)
c.2241+299C>A (n.2241+299C>A)
c.2205+299C>A (n.2205+299C>A)
c.2462C>A (p.Ser821Ter)
c.2133+299C>A (n.2133+299C>A)
c.1680-5904C>A (n.1680-5904C>A)
c.2558C>A (p.Ser853Ter)
c.2624C>A (p.Ser875Ter)
c.2621C>A (p.Ser874Ter)
c.2594C>A (p.Ser865Ter)
c.2540C>A (p.Ser847Ter)
c.2513C>A (p.Ser838Ter)
c.2498C>A (p.Ser833Ter)
c.2105C>A (p.Ser702Ter)
c.2567C>A (p.Ser856Ter)
c.2504C>A (p.Ser835Ter)
c.2501C>A (p.Ser834Ter)
c.2459C>A (p.Ser820Ter)
c.1532C>A (p.Ser511Ter)
 ClinVar dbSNP
20g.63406748A>CCA409636740KCNQ2c.2569T>G (p.Ser857Ala)
c.2515T>G (p.Ser839Ala)
c.1912T>G (p.Ser638Ala)
c.2422T>G (p.Ser808Ala)
c.2083T>G (p.Ser695Ala)
c.2431T>G (p.Ser811Ala)
c.2241+298T>G (n.2241+298T>G)
c.2205+298T>G (n.2205+298T>G)
c.2461T>G (p.Ser821Ala)
c.2133+298T>G (n.2133+298T>G)
c.1680-5905T>G (n.1680-5905T>G)
c.2557T>G (p.Ser853Ala)
c.2623T>G (p.Ser875Ala)
c.2620T>G (p.Ser874Ala)
c.2593T>G (p.Ser865Ala)
c.2539T>G (p.Ser847Ala)
c.2512T>G (p.Ser838Ala)
c.2497T>G (p.Ser833Ala)
c.2104T>G (p.Ser702Ala)
c.2566T>G (p.Ser856Ala)
c.2503T>G (p.Ser835Ala)
c.2500T>G (p.Ser834Ala)
c.2458T>G (p.Ser820Ala)
c.1531T>G (p.Ser511Ala)
20g.63406748A>GCA409636744KCNQ2c.2569T>C (p.Ser857Pro)
c.2515T>C (p.Ser839Pro)
c.1912T>C (p.Ser638Pro)
c.2422T>C (p.Ser808Pro)
c.2083T>C (p.Ser695Pro)
c.2431T>C (p.Ser811Pro)
c.2241+298T>C (n.2241+298T>C)
c.2205+298T>C (n.2205+298T>C)
c.2461T>C (p.Ser821Pro)
c.2133+298T>C (n.2133+298T>C)
c.1680-5905T>C (n.1680-5905T>C)
c.2557T>C (p.Ser853Pro)
c.2623T>C (p.Ser875Pro)
c.2620T>C (p.Ser874Pro)
c.2593T>C (p.Ser865Pro)
c.2539T>C (p.Ser847Pro)
c.2512T>C (p.Ser838Pro)
c.2497T>C (p.Ser833Pro)
c.2104T>C (p.Ser702Pro)
c.2566T>C (p.Ser856Pro)
c.2503T>C (p.Ser835Pro)
c.2500T>C (p.Ser834Pro)
c.2458T>C (p.Ser820Pro)
c.1531T>C (p.Ser511Pro)
 COSMIC COSMIC COSMIC
20g.63406748A>TCA409636742KCNQ2c.2569T>A (p.Ser857Thr)
c.2515T>A (p.Ser839Thr)
c.1912T>A (p.Ser638Thr)
c.2422T>A (p.Ser808Thr)
c.2083T>A (p.Ser695Thr)
c.2431T>A (p.Ser811Thr)
c.2241+298T>A (n.2241+298T>A)
c.2205+298T>A (n.2205+298T>A)
c.2461T>A (p.Ser821Thr)
c.2133+298T>A (n.2133+298T>A)
c.1680-5905T>A (n.1680-5905T>A)
c.2557T>A (p.Ser853Thr)
c.2623T>A (p.Ser875Thr)
c.2620T>A (p.Ser874Thr)
c.2593T>A (p.Ser865Thr)
c.2539T>A (p.Ser847Thr)
c.2512T>A (p.Ser838Thr)
c.2497T>A (p.Ser833Thr)
c.2104T>A (p.Ser702Thr)
c.2566T>A (p.Ser856Thr)
c.2503T>A (p.Ser835Thr)
c.2500T>A (p.Ser834Thr)
c.2458T>A (p.Ser820Thr)
c.1531T>A (p.Ser511Thr)
 gnomAD v4
20g.63406749C>ACA409636745KCNQ2c.2568G>T (p.Glu856Asp)
c.2514G>T (p.Glu838Asp)
c.1911G>T (p.Glu637Asp)
c.2421G>T (p.Glu807Asp)
c.2082G>T (p.Glu694Asp)
c.2430G>T (p.Glu810Asp)
c.2241+297G>T (n.2241+297G>T)
c.2205+297G>T (n.2205+297G>T)
c.2460G>T (p.Glu820Asp)
c.2133+297G>T (n.2133+297G>T)
c.1680-5906G>T (n.1680-5906G>T)
c.2556G>T (p.Glu852Asp)
c.2622G>T (p.Glu874Asp)
c.2619G>T (p.Glu873Asp)
c.2592G>T (p.Glu864Asp)
c.2538G>T (p.Glu846Asp)
c.2511G>T (p.Glu837Asp)
c.2496G>T (p.Glu832Asp)
c.2103G>T (p.Glu701Asp)
c.2565G>T (p.Glu855Asp)
c.2502G>T (p.Glu834Asp)
c.2499G>T (p.Glu833Asp)
c.2457G>T (p.Glu819Asp)
c.1530G>T (p.Glu510Asp)
20g.63406749C>GCA409636747KCNQ2c.2568G>C (p.Glu856Asp)
c.2514G>C (p.Glu838Asp)
c.1911G>C (p.Glu637Asp)
c.2421G>C (p.Glu807Asp)
c.2082G>C (p.Glu694Asp)
c.2430G>C (p.Glu810Asp)
c.2241+297G>C (n.2241+297G>C)
c.2205+297G>C (n.2205+297G>C)
c.2460G>C (p.Glu820Asp)
c.2133+297G>C (n.2133+297G>C)
c.1680-5906G>C (n.1680-5906G>C)
c.2556G>C (p.Glu852Asp)
c.2622G>C (p.Glu874Asp)
c.2619G>C (p.Glu873Asp)
c.2592G>C (p.Glu864Asp)
c.2538G>C (p.Glu846Asp)
c.2511G>C (p.Glu837Asp)
c.2496G>C (p.Glu832Asp)
c.2103G>C (p.Glu701Asp)
c.2565G>C (p.Glu855Asp)
c.2502G>C (p.Glu834Asp)
c.2499G>C (p.Glu833Asp)
c.2457G>C (p.Glu819Asp)
c.1530G>C (p.Glu510Asp)
20g.63406749C>TCA511339231KCNQ2c.2568G>A (p.Glu856=)
c.2514G>A (p.Glu838=)
c.1911G>A (p.Glu637=)
c.2421G>A (p.Glu807=)
c.2082G>A (p.Glu694=)
c.2430G>A (p.Glu810=)
c.2241+297G>A (n.2241+297G>A)
c.2205+297G>A (n.2205+297G>A)
c.2460G>A (p.Glu820=)
c.2133+297G>A (n.2133+297G>A)
c.1680-5906G>A (n.1680-5906G>A)
c.2556G>A (p.Glu852=)
c.2622G>A (p.Glu874=)
c.2619G>A (p.Glu873=)
c.2592G>A (p.Glu864=)
c.2538G>A (p.Glu846=)
c.2511G>A (p.Glu837=)
c.2496G>A (p.Glu832=)
c.2103G>A (p.Glu701=)
c.2565G>A (p.Glu855=)
c.2502G>A (p.Glu834=)
c.2499G>A (p.Glu833=)
c.2457G>A (p.Glu819=)
c.1530G>A (p.Glu510=)
20g.63406749dupCA2697547446KCNQ2c.2568dup (p.Ser857ValfsTer26)
c.2514dup (p.Ser839ValfsTer26)
c.1911dup (p.Ser638ValfsTer26)
c.2421dup (p.Ser808ValfsTer26)
c.2082dup (p.Ser695ValfsTer26)
c.2430dup (p.Ser811ValfsTer26)
c.2241+297dup (n.2241+297dup)
c.2205+297dup (n.2205+297dup)
c.2460dup (p.Ser821ValfsTer26)
c.2133+297dup (n.2133+297dup)
c.1680-5906dup (n.1680-5906dup)
c.2556dup (p.Ser853ValfsTer26)
c.2622dup (p.Ser875ValfsTer26)
c.2619dup (p.Ser874ValfsTer26)
c.2592dup (p.Ser865ValfsTer26)
c.2538dup (p.Ser847ValfsTer26)
c.2511dup (p.Ser838ValfsTer26)
c.2496dup (p.Ser833ValfsTer26)
c.2103dup (p.Ser702ValfsTer26)
c.2565dup (p.Ser856ValfsTer26)
c.2502dup (p.Ser835ValfsTer26)
c.2499dup (p.Ser834ValfsTer26)
c.2457dup (p.Ser820ValfsTer26)
c.1530dup (p.Ser511ValfsTer26)
 ClinVar
20g.63406752_63406753delCA2695230033KCNQ2c.2567_2568del (p.Glu856ValfsTer26)
c.2513_2514del (p.Glu838ValfsTer26)
c.1910_1911del (p.Glu637ValfsTer26)
c.2420_2421del (p.Glu807ValfsTer26)
c.2081_2082del (p.Glu694ValfsTer26)
c.2429_2430del (p.Glu810ValfsTer26)
c.2241+296_2241+297del (n.2241+296_2241+297del)
c.2205+296_2205+297del (n.2205+296_2205+297del)
c.2459_2460del (p.Glu820ValfsTer26)
c.2133+296_2133+297del (n.2133+296_2133+297del)
c.1680-5907_1680-5906del (n.1680-5907_1680-5906del)
c.2555_2556del (p.Glu852ValfsTer26)
c.2621_2622del (p.Glu874ValfsTer26)
c.2618_2619del (p.Glu873ValfsTer26)
c.2591_2592del (p.Glu864ValfsTer26)
c.2537_2538del (p.Glu846ValfsTer26)
c.2510_2511del (p.Glu837ValfsTer26)
c.2495_2496del (p.Glu832ValfsTer26)
c.2102_2103del (p.Glu701ValfsTer26)
c.2564_2565del (p.Glu855ValfsTer26)
c.2501_2502del (p.Glu834ValfsTer26)
c.2498_2499del (p.Glu833ValfsTer26)
c.2456_2457del (p.Glu819ValfsTer26)
c.1529_1530del (p.Glu510ValfsTer26)
20g.63406750T>ACA409636750KCNQ2c.2567A>T (p.Glu856Val)
c.2513A>T (p.Glu838Val)
c.1910A>T (p.Glu637Val)
c.2420A>T (p.Glu807Val)
c.2081A>T (p.Glu694Val)
c.2429A>T (p.Glu810Val)
c.2241+296A>T (n.2241+296A>T)
c.2205+296A>T (n.2205+296A>T)
c.2459A>T (p.Glu820Val)
c.2133+296A>T (n.2133+296A>T)
c.1680-5907A>T (n.1680-5907A>T)
c.2555A>T (p.Glu852Val)
c.2621A>T (p.Glu874Val)
c.2618A>T (p.Glu873Val)
c.2591A>T (p.Glu864Val)
c.2537A>T (p.Glu846Val)
c.2510A>T (p.Glu837Val)
c.2495A>T (p.Glu832Val)
c.2102A>T (p.Glu701Val)
c.2564A>T (p.Glu855Val)
c.2501A>T (p.Glu834Val)
c.2498A>T (p.Glu833Val)
c.2456A>T (p.Glu819Val)
c.1529A>T (p.Glu510Val)
20g.63406750T>CCA409636751KCNQ2c.2567A>G (p.Glu856Gly)
c.2513A>G (p.Glu838Gly)
c.1910A>G (p.Glu637Gly)
c.2420A>G (p.Glu807Gly)
c.2081A>G (p.Glu694Gly)
c.2429A>G (p.Glu810Gly)
c.2241+296A>G (n.2241+296A>G)
c.2205+296A>G (n.2205+296A>G)
c.2459A>G (p.Glu820Gly)
c.2133+296A>G (n.2133+296A>G)
c.1680-5907A>G (n.1680-5907A>G)
c.2555A>G (p.Glu852Gly)
c.2621A>G (p.Glu874Gly)
c.2618A>G (p.Glu873Gly)
c.2591A>G (p.Glu864Gly)
c.2537A>G (p.Glu846Gly)
c.2510A>G (p.Glu837Gly)
c.2495A>G (p.Glu832Gly)
c.2102A>G (p.Glu701Gly)
c.2564A>G (p.Glu855Gly)
c.2501A>G (p.Glu834Gly)
c.2498A>G (p.Glu833Gly)
c.2456A>G (p.Glu819Gly)
c.1529A>G (p.Glu510Gly)
 dbSNP gnomAD v3 gnomAD v4
20g.63406750T>GCA409636753KCNQ2c.2567A>C (p.Glu856Ala)
c.2513A>C (p.Glu838Ala)
c.1910A>C (p.Glu637Ala)
c.2420A>C (p.Glu807Ala)
c.2081A>C (p.Glu694Ala)
c.2429A>C (p.Glu810Ala)
c.2241+296A>C (n.2241+296A>C)
c.2205+296A>C (n.2205+296A>C)
c.2459A>C (p.Glu820Ala)
c.2133+296A>C (n.2133+296A>C)
c.1680-5907A>C (n.1680-5907A>C)
c.2555A>C (p.Glu852Ala)
c.2621A>C (p.Glu874Ala)
c.2618A>C (p.Glu873Ala)
c.2591A>C (p.Glu864Ala)
c.2537A>C (p.Glu846Ala)
c.2510A>C (p.Glu837Ala)
c.2495A>C (p.Glu832Ala)
c.2102A>C (p.Glu701Ala)
c.2564A>C (p.Glu855Ala)
c.2501A>C (p.Glu834Ala)
c.2498A>C (p.Glu833Ala)
c.2456A>C (p.Glu819Ala)
c.1529A>C (p.Glu510Ala)
20g.63406750T=CA2374774230KCNQ2c.2567A= (p.Glu856=)
c.2513A= (p.Glu838=)
c.1910A= (p.Glu637=)
c.2420A= (p.Glu807=)
c.2081A= (p.Glu694=)
c.2429A= (p.Glu810=)
c.2241+296A= (n.2241+296A=)
c.2205+296A= (n.2205+296A=)
c.2459A= (p.Glu820=)
c.2133+296A= (n.2133+296A=)
c.1680-5907A= (n.1680-5907A=)
c.2555A= (p.Glu852=)
c.2621A= (p.Glu874=)
c.2618A= (p.Glu873=)
c.2591A= (p.Glu864=)
c.2537A= (p.Glu846=)
c.2510A= (p.Glu837=)
c.2495A= (p.Glu832=)
c.2102A= (p.Glu701=)
c.2564A= (p.Glu855=)
c.2501A= (p.Glu834=)
c.2498A= (p.Glu833=)
c.2456A= (p.Glu819=)
c.1529A= (p.Glu510=)
20g.63406751C>ACA409636756KCNQ2c.2566G>T (p.Glu856Ter)
c.2512G>T (p.Glu838Ter)
c.1909G>T (p.Glu637Ter)
c.2419G>T (p.Glu807Ter)
c.2080G>T (p.Glu694Ter)
c.2428G>T (p.Glu810Ter)
c.2241+295G>T (n.2241+295G>T)
c.2205+295G>T (n.2205+295G>T)
c.2458G>T (p.Glu820Ter)
c.2133+295G>T (n.2133+295G>T)
c.1680-5908G>T (n.1680-5908G>T)
c.2554G>T (p.Glu852Ter)
c.2620G>T (p.Glu874Ter)
c.2617G>T (p.Glu873Ter)
c.2590G>T (p.Glu864Ter)
c.2536G>T (p.Glu846Ter)
c.2509G>T (p.Glu837Ter)
c.2494G>T (p.Glu832Ter)
c.2101G>T (p.Glu701Ter)
c.2563G>T (p.Glu855Ter)
c.2500G>T (p.Glu834Ter)
c.2497G>T (p.Glu833Ter)
c.2455G>T (p.Glu819Ter)
c.1528G>T (p.Glu510Ter)
20g.63406751C>GCA409636757KCNQ2c.2566G>C (p.Glu856Gln)
c.2512G>C (p.Glu838Gln)
c.1909G>C (p.Glu637Gln)
c.2419G>C (p.Glu807Gln)
c.2080G>C (p.Glu694Gln)
c.2428G>C (p.Glu810Gln)
c.2241+295G>C (n.2241+295G>C)
c.2205+295G>C (n.2205+295G>C)
c.2458G>C (p.Glu820Gln)
c.2133+295G>C (n.2133+295G>C)
c.1680-5908G>C (n.1680-5908G>C)
c.2554G>C (p.Glu852Gln)
c.2620G>C (p.Glu874Gln)
c.2617G>C (p.Glu873Gln)
c.2590G>C (p.Glu864Gln)
c.2536G>C (p.Glu846Gln)
c.2509G>C (p.Glu837Gln)
c.2494G>C (p.Glu832Gln)
c.2101G>C (p.Glu701Gln)
c.2563G>C (p.Glu855Gln)
c.2500G>C (p.Glu834Gln)
c.2497G>C (p.Glu833Gln)
c.2455G>C (p.Glu819Gln)
c.1528G>C (p.Glu510Gln)
 ClinVar
20g.63406751C>TCA409636755KCNQ2c.2566G>A (p.Glu856Lys)
c.2512G>A (p.Glu838Lys)
c.1909G>A (p.Glu637Lys)
c.2419G>A (p.Glu807Lys)
c.2080G>A (p.Glu694Lys)
c.2428G>A (p.Glu810Lys)
c.2241+295G>A (n.2241+295G>A)
c.2205+295G>A (n.2205+295G>A)
c.2458G>A (p.Glu820Lys)
c.2133+295G>A (n.2133+295G>A)
c.1680-5908G>A (n.1680-5908G>A)
c.2554G>A (p.Glu852Lys)
c.2620G>A (p.Glu874Lys)
c.2617G>A (p.Glu873Lys)
c.2590G>A (p.Glu864Lys)
c.2536G>A (p.Glu846Lys)
c.2509G>A (p.Glu837Lys)
c.2494G>A (p.Glu832Lys)
c.2101G>A (p.Glu701Lys)
c.2563G>A (p.Glu855Lys)
c.2500G>A (p.Glu834Lys)
c.2497G>A (p.Glu833Lys)
c.2455G>A (p.Glu819Lys)
c.1528G>A (p.Glu510Lys)
20g.63406752T>ACA511339232KCNQ2c.2565A>T (p.Gly855=)
c.2511A>T (p.Gly837=)
c.1908A>T (p.Gly636=)
c.2418A>T (p.Gly806=)
c.2079A>T (p.Gly693=)
c.2427A>T (p.Gly809=)
c.2241+294A>T (n.2241+294A>T)
c.2205+294A>T (n.2205+294A>T)
c.2457A>T (p.Gly819=)
c.2133+294A>T (n.2133+294A>T)
c.1680-5909A>T (n.1680-5909A>T)
c.2553A>T (p.Gly851=)
c.2619A>T (p.Gly873=)
c.2616A>T (p.Gly872=)
c.2589A>T (p.Gly863=)
c.2535A>T (p.Gly845=)
c.2508A>T (p.Gly836=)
c.2493A>T (p.Gly831=)
c.2100A>T (p.Gly700=)
c.2562A>T (p.Gly854=)
c.2499A>T (p.Gly833=)
c.2496A>T (p.Gly832=)
c.2454A>T (p.Gly818=)
c.1527A>T (p.Gly509=)
20g.63406752T>CCA511339233KCNQ2c.2565A>G (p.Gly855=)
c.2511A>G (p.Gly837=)
c.1908A>G (p.Gly636=)
c.2418A>G (p.Gly806=)
c.2079A>G (p.Gly693=)
c.2427A>G (p.Gly809=)
c.2241+294A>G (n.2241+294A>G)
c.2205+294A>G (n.2205+294A>G)
c.2457A>G (p.Gly819=)
c.2133+294A>G (n.2133+294A>G)
c.1680-5909A>G (n.1680-5909A>G)
c.2553A>G (p.Gly851=)
c.2619A>G (p.Gly873=)
c.2616A>G (p.Gly872=)
c.2589A>G (p.Gly863=)
c.2535A>G (p.Gly845=)
c.2508A>G (p.Gly836=)
c.2493A>G (p.Gly831=)
c.2100A>G (p.Gly700=)
c.2562A>G (p.Gly854=)
c.2499A>G (p.Gly833=)
c.2496A>G (p.Gly832=)
c.2454A>G (p.Gly818=)
c.1527A>G (p.Gly509=)
20g.63406752T>GCA511339234KCNQ2c.2565A>C (p.Gly855=)
c.2511A>C (p.Gly837=)
c.1908A>C (p.Gly636=)
c.2418A>C (p.Gly806=)
c.2079A>C (p.Gly693=)
c.2427A>C (p.Gly809=)
c.2241+294A>C (n.2241+294A>C)
c.2205+294A>C (n.2205+294A>C)
c.2457A>C (p.Gly819=)
c.2133+294A>C (n.2133+294A>C)
c.1680-5909A>C (n.1680-5909A>C)
c.2553A>C (p.Gly851=)
c.2619A>C (p.Gly873=)
c.2616A>C (p.Gly872=)
c.2589A>C (p.Gly863=)
c.2535A>C (p.Gly845=)
c.2508A>C (p.Gly836=)
c.2493A>C (p.Gly831=)
c.2100A>C (p.Gly700=)
c.2562A>C (p.Gly854=)
c.2499A>C (p.Gly833=)
c.2496A>C (p.Gly832=)
c.2454A>C (p.Gly818=)
c.1527A>C (p.Gly509=)
20g.63406753C>ACA409636762KCNQ2c.2564G>T (p.Gly855Val)
c.2510G>T (p.Gly837Val)
c.1907G>T (p.Gly636Val)
c.2417G>T (p.Gly806Val)
c.2078G>T (p.Gly693Val)
c.2426G>T (p.Gly809Val)
c.2241+293G>T (n.2241+293G>T)
c.2205+293G>T (n.2205+293G>T)
c.2456G>T (p.Gly819Val)
c.2133+293G>T (n.2133+293G>T)
c.1680-5910G>T (n.1680-5910G>T)
c.2552G>T (p.Gly851Val)
c.2618G>T (p.Gly873Val)
c.2615G>T (p.Gly872Val)
c.2588G>T (p.Gly863Val)
c.2534G>T (p.Gly845Val)
c.2507G>T (p.Gly836Val)
c.2492G>T (p.Gly831Val)
c.2099G>T (p.Gly700Val)
c.2561G>T (p.Gly854Val)
c.2498G>T (p.Gly833Val)
c.2495G>T (p.Gly832Val)
c.2453G>T (p.Gly818Val)
c.1526G>T (p.Gly509Val)
 gnomAD v4
20g.63406753C>GCA409636760KCNQ2c.2564G>C (p.Gly855Ala)
c.2510G>C (p.Gly837Ala)
c.1907G>C (p.Gly636Ala)
c.2417G>C (p.Gly806Ala)
c.2078G>C (p.Gly693Ala)
c.2426G>C (p.Gly809Ala)
c.2241+293G>C (n.2241+293G>C)
c.2205+293G>C (n.2205+293G>C)
c.2456G>C (p.Gly819Ala)
c.2133+293G>C (n.2133+293G>C)
c.1680-5910G>C (n.1680-5910G>C)
c.2552G>C (p.Gly851Ala)
c.2618G>C (p.Gly873Ala)
c.2615G>C (p.Gly872Ala)
c.2588G>C (p.Gly863Ala)
c.2534G>C (p.Gly845Ala)
c.2507G>C (p.Gly836Ala)
c.2492G>C (p.Gly831Ala)
c.2099G>C (p.Gly700Ala)
c.2561G>C (p.Gly854Ala)
c.2498G>C (p.Gly833Ala)
c.2495G>C (p.Gly832Ala)
c.2453G>C (p.Gly818Ala)
c.1526G>C (p.Gly509Ala)
20g.63406753C>TCA409636763KCNQ2c.2564G>A (p.Gly855Glu)
c.2510G>A (p.Gly837Glu)
c.1907G>A (p.Gly636Glu)
c.2417G>A (p.Gly806Glu)
c.2078G>A (p.Gly693Glu)
c.2426G>A (p.Gly809Glu)
c.2241+293G>A (n.2241+293G>A)
c.2205+293G>A (n.2205+293G>A)
c.2456G>A (p.Gly819Glu)
c.2133+293G>A (n.2133+293G>A)
c.1680-5910G>A (n.1680-5910G>A)
c.2552G>A (p.Gly851Glu)
c.2618G>A (p.Gly873Glu)
c.2615G>A (p.Gly872Glu)
c.2588G>A (p.Gly863Glu)
c.2534G>A (p.Gly845Glu)
c.2507G>A (p.Gly836Glu)
c.2492G>A (p.Gly831Glu)
c.2099G>A (p.Gly700Glu)
c.2561G>A (p.Gly854Glu)
c.2498G>A (p.Gly833Glu)
c.2495G>A (p.Gly832Glu)
c.2453G>A (p.Gly818Glu)
c.1526G>A (p.Gly509Glu)
 gnomAD v4
20g.63406754C>ACA409636766KCNQ2c.2563G>T (p.Gly855Ter)
c.2509G>T (p.Gly837Ter)
c.1906G>T (p.Gly636Ter)
c.2416G>T (p.Gly806Ter)
c.2077G>T (p.Gly693Ter)
c.2425G>T (p.Gly809Ter)
c.2241+292G>T (n.2241+292G>T)
c.2205+292G>T (n.2205+292G>T)
c.2455G>T (p.Gly819Ter)
c.2133+292G>T (n.2133+292G>T)
c.1680-5911G>T (n.1680-5911G>T)
c.2551G>T (p.Gly851Ter)
c.2617G>T (p.Gly873Ter)
c.2614G>T (p.Gly872Ter)
c.2587G>T (p.Gly863Ter)
c.2533G>T (p.Gly845Ter)
c.2506G>T (p.Gly836Ter)
c.2491G>T (p.Gly831Ter)
c.2098G>T (p.Gly700Ter)
c.2560G>T (p.Gly854Ter)
c.2497G>T (p.Gly833Ter)
c.2494G>T (p.Gly832Ter)
c.2452G>T (p.Gly818Ter)
c.1525G>T (p.Gly509Ter)
20g.63406754C>GCA409636768KCNQ2c.2563G>C (p.Gly855Arg)
c.2509G>C (p.Gly837Arg)
c.1906G>C (p.Gly636Arg)
c.2416G>C (p.Gly806Arg)
c.2077G>C (p.Gly693Arg)
c.2425G>C (p.Gly809Arg)
c.2241+292G>C (n.2241+292G>C)
c.2205+292G>C (n.2205+292G>C)
c.2455G>C (p.Gly819Arg)
c.2133+292G>C (n.2133+292G>C)
c.1680-5911G>C (n.1680-5911G>C)
c.2551G>C (p.Gly851Arg)
c.2617G>C (p.Gly873Arg)
c.2614G>C (p.Gly872Arg)
c.2587G>C (p.Gly863Arg)
c.2533G>C (p.Gly845Arg)
c.2506G>C (p.Gly836Arg)
c.2491G>C (p.Gly831Arg)
c.2098G>C (p.Gly700Arg)
c.2560G>C (p.Gly854Arg)
c.2497G>C (p.Gly833Arg)
c.2494G>C (p.Gly832Arg)
c.2452G>C (p.Gly818Arg)
c.1525G>C (p.Gly509Arg)
20g.63406754C>TCA409636770KCNQ2c.2563G>A (p.Gly855Arg)
c.2509G>A (p.Gly837Arg)
c.1906G>A (p.Gly636Arg)
c.2416G>A (p.Gly806Arg)
c.2077G>A (p.Gly693Arg)
c.2425G>A (p.Gly809Arg)
c.2241+292G>A (n.2241+292G>A)
c.2205+292G>A (n.2205+292G>A)
c.2455G>A (p.Gly819Arg)
c.2133+292G>A (n.2133+292G>A)
c.1680-5911G>A (n.1680-5911G>A)
c.2551G>A (p.Gly851Arg)
c.2617G>A (p.Gly873Arg)
c.2614G>A (p.Gly872Arg)
c.2587G>A (p.Gly863Arg)
c.2533G>A (p.Gly845Arg)
c.2506G>A (p.Gly836Arg)
c.2491G>A (p.Gly831Arg)
c.2098G>A (p.Gly700Arg)
c.2560G>A (p.Gly854Arg)
c.2497G>A (p.Gly833Arg)
c.2494G>A (p.Gly832Arg)
c.2452G>A (p.Gly818Arg)
c.1525G>A (p.Gly509Arg)
20g.63406755C>ACA409636772KCNQ2c.2562G>T (p.Glu854Asp)
c.2508G>T (p.Glu836Asp)
c.1905G>T (p.Glu635Asp)
c.2415G>T (p.Glu805Asp)
c.2076G>T (p.Glu692Asp)
c.2424G>T (p.Glu808Asp)
c.2241+291G>T (n.2241+291G>T)
c.2205+291G>T (n.2205+291G>T)
c.2454G>T (p.Glu818Asp)
c.2133+291G>T (n.2133+291G>T)
c.1680-5912G>T (n.1680-5912G>T)
c.2550G>T (p.Glu850Asp)
c.2616G>T (p.Glu872Asp)
c.2613G>T (p.Glu871Asp)
c.2586G>T (p.Glu862Asp)
c.2532G>T (p.Glu844Asp)
c.2505G>T (p.Glu835Asp)
c.2490G>T (p.Glu830Asp)
c.2097G>T (p.Glu699Asp)
c.2559G>T (p.Glu853Asp)
c.2496G>T (p.Glu832Asp)
c.2493G>T (p.Glu831Asp)
c.2451G>T (p.Glu817Asp)
c.1524G>T (p.Glu508Asp)
20g.63406755C>GCA409636774KCNQ2c.2562G>C (p.Glu854Asp)
c.2508G>C (p.Glu836Asp)
c.1905G>C (p.Glu635Asp)
c.2415G>C (p.Glu805Asp)
c.2076G>C (p.Glu692Asp)
c.2424G>C (p.Glu808Asp)
c.2241+291G>C (n.2241+291G>C)
c.2205+291G>C (n.2205+291G>C)
c.2454G>C (p.Glu818Asp)
c.2133+291G>C (n.2133+291G>C)
c.1680-5912G>C (n.1680-5912G>C)
c.2550G>C (p.Glu850Asp)
c.2616G>C (p.Glu872Asp)
c.2613G>C (p.Glu871Asp)
c.2586G>C (p.Glu862Asp)
c.2532G>C (p.Glu844Asp)
c.2505G>C (p.Glu835Asp)
c.2490G>C (p.Glu830Asp)
c.2097G>C (p.Glu699Asp)
c.2559G>C (p.Glu853Asp)
c.2496G>C (p.Glu832Asp)
c.2493G>C (p.Glu831Asp)
c.2451G>C (p.Glu817Asp)
c.1524G>C (p.Glu508Asp)
20g.63406755C>TCA511339235KCNQ2c.2562G>A (p.Glu854=)
c.2508G>A (p.Glu836=)
c.1905G>A (p.Glu635=)
c.2415G>A (p.Glu805=)
c.2076G>A (p.Glu692=)
c.2424G>A (p.Glu808=)
c.2241+291G>A (n.2241+291G>A)
c.2205+291G>A (n.2205+291G>A)
c.2454G>A (p.Glu818=)
c.2133+291G>A (n.2133+291G>A)
c.1680-5912G>A (n.1680-5912G>A)
c.2550G>A (p.Glu850=)
c.2616G>A (p.Glu872=)
c.2613G>A (p.Glu871=)
c.2586G>A (p.Glu862=)
c.2532G>A (p.Glu844=)
c.2505G>A (p.Glu835=)
c.2490G>A (p.Glu830=)
c.2097G>A (p.Glu699=)
c.2559G>A (p.Glu853=)
c.2496G>A (p.Glu832=)
c.2493G>A (p.Glu831=)
c.2451G>A (p.Glu817=)
c.1524G>A (p.Glu508=)
 gnomAD v4
20g.63406756T>ACA409636776KCNQ2c.2561A>T (p.Glu854Val)
c.2507A>T (p.Glu836Val)
c.1904A>T (p.Glu635Val)
c.2414A>T (p.Glu805Val)
c.2075A>T (p.Glu692Val)
c.2423A>T (p.Glu808Val)
c.2241+290A>T (n.2241+290A>T)
c.2205+290A>T (n.2205+290A>T)
c.2453A>T (p.Glu818Val)
c.2133+290A>T (n.2133+290A>T)
c.1680-5913A>T (n.1680-5913A>T)
c.2549A>T (p.Glu850Val)
c.2615A>T (p.Glu872Val)
c.2612A>T (p.Glu871Val)
c.2585A>T (p.Glu862Val)
c.2531A>T (p.Glu844Val)
c.2504A>T (p.Glu835Val)
c.2489A>T (p.Glu830Val)
c.2096A>T (p.Glu699Val)
c.2558A>T (p.Glu853Val)
c.2495A>T (p.Glu832Val)
c.2492A>T (p.Glu831Val)
c.2450A>T (p.Glu817Val)
c.1523A>T (p.Glu508Val)
20g.63406756T>CCA409636778KCNQ2c.2561A>G (p.Glu854Gly)
c.2507A>G (p.Glu836Gly)
c.1904A>G (p.Glu635Gly)
c.2414A>G (p.Glu805Gly)
c.2075A>G (p.Glu692Gly)
c.2423A>G (p.Glu808Gly)
c.2241+290A>G (n.2241+290A>G)
c.2205+290A>G (n.2205+290A>G)
c.2453A>G (p.Glu818Gly)
c.2133+290A>G (n.2133+290A>G)
c.1680-5913A>G (n.1680-5913A>G)
c.2549A>G (p.Glu850Gly)
c.2615A>G (p.Glu872Gly)
c.2612A>G (p.Glu871Gly)
c.2585A>G (p.Glu862Gly)
c.2531A>G (p.Glu844Gly)
c.2504A>G (p.Glu835Gly)
c.2489A>G (p.Glu830Gly)
c.2096A>G (p.Glu699Gly)
c.2558A>G (p.Glu853Gly)
c.2495A>G (p.Glu832Gly)
c.2492A>G (p.Glu831Gly)
c.2450A>G (p.Glu817Gly)
c.1523A>G (p.Glu508Gly)
 dbSNP gnomAD v2 gnomAD v4
20g.63406756T>GCA409636779KCNQ2c.2561A>C (p.Glu854Ala)
c.2507A>C (p.Glu836Ala)
c.1904A>C (p.Glu635Ala)
c.2414A>C (p.Glu805Ala)
c.2075A>C (p.Glu692Ala)
c.2423A>C (p.Glu808Ala)
c.2241+290A>C (n.2241+290A>C)
c.2205+290A>C (n.2205+290A>C)
c.2453A>C (p.Glu818Ala)
c.2133+290A>C (n.2133+290A>C)
c.1680-5913A>C (n.1680-5913A>C)
c.2549A>C (p.Glu850Ala)
c.2615A>C (p.Glu872Ala)
c.2612A>C (p.Glu871Ala)
c.2585A>C (p.Glu862Ala)
c.2531A>C (p.Glu844Ala)
c.2504A>C (p.Glu835Ala)
c.2489A>C (p.Glu830Ala)
c.2096A>C (p.Glu699Ala)
c.2558A>C (p.Glu853Ala)
c.2495A>C (p.Glu832Ala)
c.2492A>C (p.Glu831Ala)
c.2450A>C (p.Glu817Ala)
c.1523A>C (p.Glu508Ala)
20g.63406756T=CA2374774231KCNQ2c.2561A= (p.Glu854=)
c.2507A= (p.Glu836=)
c.1904A= (p.Glu635=)
c.2414A= (p.Glu805=)
c.2075A= (p.Glu692=)
c.2423A= (p.Glu808=)
c.2241+290A= (n.2241+290A=)
c.2205+290A= (n.2205+290A=)
c.2453A= (p.Glu818=)
c.2133+290A= (n.2133+290A=)
c.1680-5913A= (n.1680-5913A=)
c.2549A= (p.Glu850=)
c.2615A= (p.Glu872=)
c.2612A= (p.Glu871=)
c.2585A= (p.Glu862=)
c.2531A= (p.Glu844=)
c.2504A= (p.Glu835=)
c.2489A= (p.Glu830=)
c.2096A= (p.Glu699=)
c.2558A= (p.Glu853=)
c.2495A= (p.Glu832=)
c.2492A= (p.Glu831=)
c.2450A= (p.Glu817=)
c.1523A= (p.Glu508=)
20g.63406757C>ACA409636782KCNQ2c.2560G>T (p.Glu854Ter)
c.2506G>T (p.Glu836Ter)
c.1903G>T (p.Glu635Ter)
c.2413G>T (p.Glu805Ter)
c.2074G>T (p.Glu692Ter)
c.2422G>T (p.Glu808Ter)
c.2241+289G>T (n.2241+289G>T)
c.2205+289G>T (n.2205+289G>T)
c.2452G>T (p.Glu818Ter)
c.2133+289G>T (n.2133+289G>T)
c.1680-5914G>T (n.1680-5914G>T)
c.2548G>T (p.Glu850Ter)
c.2614G>T (p.Glu872Ter)
c.2611G>T (p.Glu871Ter)
c.2584G>T (p.Glu862Ter)
c.2530G>T (p.Glu844Ter)
c.2503G>T (p.Glu835Ter)
c.2488G>T (p.Glu830Ter)
c.2095G>T (p.Glu699Ter)
c.2557G>T (p.Glu853Ter)
c.2494G>T (p.Glu832Ter)
c.2491G>T (p.Glu831Ter)
c.2449G>T (p.Glu817Ter)
c.1522G>T (p.Glu508Ter)
20g.63406757C>GCA409636784KCNQ2c.2560G>C (p.Glu854Gln)
c.2506G>C (p.Glu836Gln)
c.1903G>C (p.Glu635Gln)
c.2413G>C (p.Glu805Gln)
c.2074G>C (p.Glu692Gln)
c.2422G>C (p.Glu808Gln)
c.2241+289G>C (n.2241+289G>C)
c.2205+289G>C (n.2205+289G>C)
c.2452G>C (p.Glu818Gln)
c.2133+289G>C (n.2133+289G>C)
c.1680-5914G>C (n.1680-5914G>C)
c.2548G>C (p.Glu850Gln)
c.2614G>C (p.Glu872Gln)
c.2611G>C (p.Glu871Gln)
c.2584G>C (p.Glu862Gln)
c.2530G>C (p.Glu844Gln)
c.2503G>C (p.Glu835Gln)
c.2488G>C (p.Glu830Gln)
c.2095G>C (p.Glu699Gln)
c.2557G>C (p.Glu853Gln)
c.2494G>C (p.Glu832Gln)
c.2491G>C (p.Glu831Gln)
c.2449G>C (p.Glu817Gln)
c.1522G>C (p.Glu508Gln)
 ClinVar gnomAD v4
20g.63406757C>TCA409636786KCNQ2c.2560G>A (p.Glu854Lys)
c.2506G>A (p.Glu836Lys)
c.1903G>A (p.Glu635Lys)
c.2413G>A (p.Glu805Lys)
c.2074G>A (p.Glu692Lys)
c.2422G>A (p.Glu808Lys)
c.2241+289G>A (n.2241+289G>A)
c.2205+289G>A (n.2205+289G>A)
c.2452G>A (p.Glu818Lys)
c.2133+289G>A (n.2133+289G>A)
c.1680-5914G>A (n.1680-5914G>A)
c.2548G>A (p.Glu850Lys)
c.2614G>A (p.Glu872Lys)
c.2611G>A (p.Glu871Lys)
c.2584G>A (p.Glu862Lys)
c.2530G>A (p.Glu844Lys)
c.2503G>A (p.Glu835Lys)
c.2488G>A (p.Glu830Lys)
c.2095G>A (p.Glu699Lys)
c.2557G>A (p.Glu853Lys)
c.2494G>A (p.Glu832Lys)
c.2491G>A (p.Glu831Lys)
c.2449G>A (p.Glu817Lys)
c.1522G>A (p.Glu508Lys)
 gnomAD v4
20g.63406758C>ACA511339238KCNQ2c.2559G>T (p.Ala853=)
c.2505G>T (p.Ala835=)
c.1902G>T (p.Ala634=)
c.2412G>T (p.Ala804=)
c.2073G>T (p.Ala691=)
c.2421G>T (p.Ala807=)
c.2241+288G>T (n.2241+288G>T)
c.2205+288G>T (n.2205+288G>T)
c.2451G>T (p.Ala817=)
c.2133+288G>T (n.2133+288G>T)
c.1680-5915G>T (n.1680-5915G>T)
c.2547G>T (p.Ala849=)
c.2613G>T (p.Ala871=)
c.2610G>T (p.Ala870=)
c.2583G>T (p.Ala861=)
c.2529G>T (p.Ala843=)
c.2502G>T (p.Ala834=)
c.2487G>T (p.Ala829=)
c.2094G>T (p.Ala698=)
c.2556G>T (p.Ala852=)
c.2493G>T (p.Ala831=)
c.2490G>T (p.Ala830=)
c.2448G>T (p.Ala816=)
c.1521G>T (p.Ala507=)
 dbSNP gnomAD v4
20g.63406758C=CA2374774232KCNQ2c.2559G= (p.Ala853=)
c.2505G= (p.Ala835=)
c.1902G= (p.Ala634=)
c.2412G= (p.Ala804=)
c.2073G= (p.Ala691=)
c.2421G= (p.Ala807=)
c.2241+288G= (n.2241+288G=)
c.2205+288G= (n.2205+288G=)
c.2451G= (p.Ala817=)
c.2133+288G= (n.2133+288G=)
c.1680-5915G= (n.1680-5915G=)
c.2547G= (p.Ala849=)
c.2613G= (p.Ala871=)
c.2610G= (p.Ala870=)
c.2583G= (p.Ala861=)
c.2529G= (p.Ala843=)
c.2502G= (p.Ala834=)
c.2487G= (p.Ala829=)
c.2094G= (p.Ala698=)
c.2556G= (p.Ala852=)
c.2493G= (p.Ala831=)
c.2490G= (p.Ala830=)
c.2448G= (p.Ala816=)
c.1521G= (p.Ala507=)
20g.63406758C>GCA511339237KCNQ2c.2559G>C (p.Ala853=)
c.2505G>C (p.Ala835=)
c.1902G>C (p.Ala634=)
c.2412G>C (p.Ala804=)
c.2073G>C (p.Ala691=)
c.2421G>C (p.Ala807=)
c.2241+288G>C (n.2241+288G>C)
c.2205+288G>C (n.2205+288G>C)
c.2451G>C (p.Ala817=)
c.2133+288G>C (n.2133+288G>C)
c.1680-5915G>C (n.1680-5915G>C)
c.2547G>C (p.Ala849=)
c.2613G>C (p.Ala871=)
c.2610G>C (p.Ala870=)
c.2583G>C (p.Ala861=)
c.2529G>C (p.Ala843=)
c.2502G>C (p.Ala834=)
c.2487G>C (p.Ala829=)
c.2094G>C (p.Ala698=)
c.2556G>C (p.Ala852=)
c.2493G>C (p.Ala831=)
c.2490G>C (p.Ala830=)
c.2448G>C (p.Ala816=)
c.1521G>C (p.Ala507=)
 ClinVar dbSNP gnomAD v4
20g.63406758C>TCA9958066KCNQ2c.2559G>A (p.Ala853=)
c.2505G>A (p.Ala835=)
c.1902G>A (p.Ala634=)
c.2412G>A (p.Ala804=)
c.2073G>A (p.Ala691=)
c.2421G>A (p.Ala807=)
c.2241+288G>A (n.2241+288G>A)
c.2205+288G>A (n.2205+288G>A)
c.2451G>A (p.Ala817=)
c.2133+288G>A (n.2133+288G>A)
c.1680-5915G>A (n.1680-5915G>A)
c.2547G>A (p.Ala849=)
c.2613G>A (p.Ala871=)
c.2610G>A (p.Ala870=)
c.2583G>A (p.Ala861=)
c.2529G>A (p.Ala843=)
c.2502G>A (p.Ala834=)
c.2487G>A (p.Ala829=)
c.2094G>A (p.Ala698=)
c.2556G>A (p.Ala852=)
c.2493G>A (p.Ala831=)
c.2490G>A (p.Ala830=)
c.2448G>A (p.Ala816=)
c.1521G>A (p.Ala507=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406759G>ACA9958067KCNQ2c.2558C>T (p.Ala853Val)
c.2504C>T (p.Ala835Val)
c.1901C>T (p.Ala634Val)
c.2411C>T (p.Ala804Val)
c.2072C>T (p.Ala691Val)
c.2420C>T (p.Ala807Val)
c.2241+287C>T (n.2241+287C>T)
c.2205+287C>T (n.2205+287C>T)
c.2450C>T (p.Ala817Val)
c.2133+287C>T (n.2133+287C>T)
c.1680-5916C>T (n.1680-5916C>T)
c.2546C>T (p.Ala849Val)
c.2612C>T (p.Ala871Val)
c.2609C>T (p.Ala870Val)
c.2582C>T (p.Ala861Val)
c.2528C>T (p.Ala843Val)
c.2501C>T (p.Ala834Val)
c.2486C>T (p.Ala829Val)
c.2093C>T (p.Ala698Val)
c.2555C>T (p.Ala852Val)
c.2492C>T (p.Ala831Val)
c.2489C>T (p.Ala830Val)
c.2447C>T (p.Ala816Val)
c.1520C>T (p.Ala507Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406759G>CCA409636791KCNQ2c.2558C>G (p.Ala853Gly)
c.2504C>G (p.Ala835Gly)
c.1901C>G (p.Ala634Gly)
c.2411C>G (p.Ala804Gly)
c.2072C>G (p.Ala691Gly)
c.2420C>G (p.Ala807Gly)
c.2241+287C>G (n.2241+287C>G)
c.2205+287C>G (n.2205+287C>G)
c.2450C>G (p.Ala817Gly)
c.2133+287C>G (n.2133+287C>G)
c.1680-5916C>G (n.1680-5916C>G)
c.2546C>G (p.Ala849Gly)
c.2612C>G (p.Ala871Gly)
c.2609C>G (p.Ala870Gly)
c.2582C>G (p.Ala861Gly)
c.2528C>G (p.Ala843Gly)
c.2501C>G (p.Ala834Gly)
c.2486C>G (p.Ala829Gly)
c.2093C>G (p.Ala698Gly)
c.2555C>G (p.Ala852Gly)
c.2492C>G (p.Ala831Gly)
c.2489C>G (p.Ala830Gly)
c.2447C>G (p.Ala816Gly)
c.1520C>G (p.Ala507Gly)
20g.63406759G=CA2374774233KCNQ2c.2558C= (p.Ala853=)
c.2504C= (p.Ala835=)
c.1901C= (p.Ala634=)
c.2411C= (p.Ala804=)
c.2072C= (p.Ala691=)
c.2420C= (p.Ala807=)
c.2241+287C= (n.2241+287C=)
c.2205+287C= (n.2205+287C=)
c.2450C= (p.Ala817=)
c.2133+287C= (n.2133+287C=)
c.1680-5916C= (n.1680-5916C=)
c.2546C= (p.Ala849=)
c.2612C= (p.Ala871=)
c.2609C= (p.Ala870=)
c.2582C= (p.Ala861=)
c.2528C= (p.Ala843=)
c.2501C= (p.Ala834=)
c.2486C= (p.Ala829=)
c.2093C= (p.Ala698=)
c.2555C= (p.Ala852=)
c.2492C= (p.Ala831=)
c.2489C= (p.Ala830=)
c.2447C= (p.Ala816=)
c.1520C= (p.Ala507=)
20g.63406759G>TCA409636789KCNQ2c.2558C>A (p.Ala853Glu)
c.2504C>A (p.Ala835Glu)
c.1901C>A (p.Ala634Glu)
c.2411C>A (p.Ala804Glu)
c.2072C>A (p.Ala691Glu)
c.2420C>A (p.Ala807Glu)
c.2241+287C>A (n.2241+287C>A)
c.2205+287C>A (n.2205+287C>A)
c.2450C>A (p.Ala817Glu)
c.2133+287C>A (n.2133+287C>A)
c.1680-5916C>A (n.1680-5916C>A)
c.2546C>A (p.Ala849Glu)
c.2612C>A (p.Ala871Glu)
c.2609C>A (p.Ala870Glu)
c.2582C>A (p.Ala861Glu)
c.2528C>A (p.Ala843Glu)
c.2501C>A (p.Ala834Glu)
c.2486C>A (p.Ala829Glu)
c.2093C>A (p.Ala698Glu)
c.2555C>A (p.Ala852Glu)
c.2492C>A (p.Ala831Glu)
c.2489C>A (p.Ala830Glu)
c.2447C>A (p.Ala816Glu)
c.1520C>A (p.Ala507Glu)
20g.63406760C>ACA409636795KCNQ2c.2557G>T (p.Ala853Ser)
c.2503G>T (p.Ala835Ser)
c.1900G>T (p.Ala634Ser)
c.2410G>T (p.Ala804Ser)
c.2071G>T (p.Ala691Ser)
c.2419G>T (p.Ala807Ser)
c.2241+286G>T (n.2241+286G>T)
c.2205+286G>T (n.2205+286G>T)
c.2449G>T (p.Ala817Ser)
c.2133+286G>T (n.2133+286G>T)
c.1680-5917G>T (n.1680-5917G>T)
c.2545G>T (p.Ala849Ser)
c.2611G>T (p.Ala871Ser)
c.2608G>T (p.Ala870Ser)
c.2581G>T (p.Ala861Ser)
c.2527G>T (p.Ala843Ser)
c.2500G>T (p.Ala834Ser)
c.2485G>T (p.Ala829Ser)
c.2092G>T (p.Ala698Ser)
c.2554G>T (p.Ala852Ser)
c.2491G>T (p.Ala831Ser)
c.2488G>T (p.Ala830Ser)
c.2446G>T (p.Ala816Ser)
c.1519G>T (p.Ala507Ser)
20g.63406760C>GCA409636796KCNQ2c.2557G>C (p.Ala853Pro)
c.2503G>C (p.Ala835Pro)
c.1900G>C (p.Ala634Pro)
c.2410G>C (p.Ala804Pro)
c.2071G>C (p.Ala691Pro)
c.2419G>C (p.Ala807Pro)
c.2241+286G>C (n.2241+286G>C)
c.2205+286G>C (n.2205+286G>C)
c.2449G>C (p.Ala817Pro)
c.2133+286G>C (n.2133+286G>C)
c.1680-5917G>C (n.1680-5917G>C)
c.2545G>C (p.Ala849Pro)
c.2611G>C (p.Ala871Pro)
c.2608G>C (p.Ala870Pro)
c.2581G>C (p.Ala861Pro)
c.2527G>C (p.Ala843Pro)
c.2500G>C (p.Ala834Pro)
c.2485G>C (p.Ala829Pro)
c.2092G>C (p.Ala698Pro)
c.2554G>C (p.Ala852Pro)
c.2491G>C (p.Ala831Pro)
c.2488G>C (p.Ala830Pro)
c.2446G>C (p.Ala816Pro)
c.1519G>C (p.Ala507Pro)
20g.63406760C>TCA409636797KCNQ2c.2557G>A (p.Ala853Thr)
c.2503G>A (p.Ala835Thr)
c.1900G>A (p.Ala634Thr)
c.2410G>A (p.Ala804Thr)
c.2071G>A (p.Ala691Thr)
c.2419G>A (p.Ala807Thr)
c.2241+286G>A (n.2241+286G>A)
c.2205+286G>A (n.2205+286G>A)
c.2449G>A (p.Ala817Thr)
c.2133+286G>A (n.2133+286G>A)
c.1680-5917G>A (n.1680-5917G>A)
c.2545G>A (p.Ala849Thr)
c.2611G>A (p.Ala871Thr)
c.2608G>A (p.Ala870Thr)
c.2581G>A (p.Ala861Thr)
c.2527G>A (p.Ala843Thr)
c.2500G>A (p.Ala834Thr)
c.2485G>A (p.Ala829Thr)
c.2092G>A (p.Ala698Thr)
c.2554G>A (p.Ala852Thr)
c.2491G>A (p.Ala831Thr)
c.2488G>A (p.Ala830Thr)
c.2446G>A (p.Ala816Thr)
c.1519G>A (p.Ala507Thr)
20g.63406761A>CCA409636800KCNQ2c.2556T>G (p.Ile852Met)
c.2502T>G (p.Ile834Met)
c.1899T>G (p.Ile633Met)
c.2409T>G (p.Ile803Met)
c.2070T>G (p.Ile690Met)
c.2418T>G (p.Ile806Met)
c.2241+285T>G (n.2241+285T>G)
c.2205+285T>G (n.2205+285T>G)
c.2448T>G (p.Ile816Met)
c.2133+285T>G (n.2133+285T>G)
c.1680-5918T>G (n.1680-5918T>G)
c.2544T>G (p.Ile848Met)
c.2610T>G (p.Ile870Met)
c.2607T>G (p.Ile869Met)
c.2580T>G (p.Ile860Met)
c.2526T>G (p.Ile842Met)
c.2499T>G (p.Ile833Met)
c.2484T>G (p.Ile828Met)
c.2091T>G (p.Ile697Met)
c.2553T>G (p.Ile851Met)
c.2490T>G (p.Ile830Met)
c.2487T>G (p.Ile829Met)
c.2445T>G (p.Ile815Met)
c.1518T>G (p.Ile506Met)
20g.63406761A>GCA511339245KCNQ2c.2556T>C (p.Ile852=)
c.2502T>C (p.Ile834=)
c.1899T>C (p.Ile633=)
c.2409T>C (p.Ile803=)
c.2070T>C (p.Ile690=)
c.2418T>C (p.Ile806=)
c.2241+285T>C (n.2241+285T>C)
c.2205+285T>C (n.2205+285T>C)
c.2448T>C (p.Ile816=)
c.2133+285T>C (n.2133+285T>C)
c.1680-5918T>C (n.1680-5918T>C)
c.2544T>C (p.Ile848=)
c.2610T>C (p.Ile870=)
c.2607T>C (p.Ile869=)
c.2580T>C (p.Ile860=)
c.2526T>C (p.Ile842=)
c.2499T>C (p.Ile833=)
c.2484T>C (p.Ile828=)
c.2091T>C (p.Ile697=)
c.2553T>C (p.Ile851=)
c.2490T>C (p.Ile830=)
c.2487T>C (p.Ile829=)
c.2445T>C (p.Ile815=)
c.1518T>C (p.Ile506=)
 dbSNP gnomAD v4
20g.63406761A>TCA511339242KCNQ2c.2556T>A (p.Ile852=)
c.2502T>A (p.Ile834=)
c.1899T>A (p.Ile633=)
c.2409T>A (p.Ile803=)
c.2070T>A (p.Ile690=)
c.2418T>A (p.Ile806=)
c.2241+285T>A (n.2241+285T>A)
c.2205+285T>A (n.2205+285T>A)
c.2448T>A (p.Ile816=)
c.2133+285T>A (n.2133+285T>A)
c.1680-5918T>A (n.1680-5918T>A)
c.2544T>A (p.Ile848=)
c.2610T>A (p.Ile870=)
c.2607T>A (p.Ile869=)
c.2580T>A (p.Ile860=)
c.2526T>A (p.Ile842=)
c.2499T>A (p.Ile833=)
c.2484T>A (p.Ile828=)
c.2091T>A (p.Ile697=)
c.2553T>A (p.Ile851=)
c.2490T>A (p.Ile830=)
c.2487T>A (p.Ile829=)
c.2445T>A (p.Ile815=)
c.1518T>A (p.Ile506=)
20g.63406762A>CCA409636802KCNQ2c.2555T>G (p.Ile852Ser)
c.2501T>G (p.Ile834Ser)
c.1898T>G (p.Ile633Ser)
c.2408T>G (p.Ile803Ser)
c.2069T>G (p.Ile690Ser)
c.2417T>G (p.Ile806Ser)
c.2241+284T>G (n.2241+284T>G)
c.2205+284T>G (n.2205+284T>G)
c.2447T>G (p.Ile816Ser)
c.2133+284T>G (n.2133+284T>G)
c.1680-5919T>G (n.1680-5919T>G)
c.2543T>G (p.Ile848Ser)
c.2609T>G (p.Ile870Ser)
c.2606T>G (p.Ile869Ser)
c.2579T>G (p.Ile860Ser)
c.2525T>G (p.Ile842Ser)
c.2498T>G (p.Ile833Ser)
c.2483T>G (p.Ile828Ser)
c.2090T>G (p.Ile697Ser)
c.2552T>G (p.Ile851Ser)
c.2489T>G (p.Ile830Ser)
c.2486T>G (p.Ile829Ser)
c.2444T>G (p.Ile815Ser)
c.1517T>G (p.Ile506Ser)
20g.63406762A>GCA409636804KCNQ2c.2555T>C (p.Ile852Thr)
c.2501T>C (p.Ile834Thr)
c.1898T>C (p.Ile633Thr)
c.2408T>C (p.Ile803Thr)
c.2069T>C (p.Ile690Thr)
c.2417T>C (p.Ile806Thr)
c.2241+284T>C (n.2241+284T>C)
c.2205+284T>C (n.2205+284T>C)
c.2447T>C (p.Ile816Thr)
c.2133+284T>C (n.2133+284T>C)
c.1680-5919T>C (n.1680-5919T>C)
c.2543T>C (p.Ile848Thr)
c.2609T>C (p.Ile870Thr)
c.2606T>C (p.Ile869Thr)
c.2579T>C (p.Ile860Thr)
c.2525T>C (p.Ile842Thr)
c.2498T>C (p.Ile833Thr)
c.2483T>C (p.Ile828Thr)
c.2090T>C (p.Ile697Thr)
c.2552T>C (p.Ile851Thr)
c.2489T>C (p.Ile830Thr)
c.2486T>C (p.Ile829Thr)
c.2444T>C (p.Ile815Thr)
c.1517T>C (p.Ile506Thr)
 gnomAD v4 COSMIC COSMIC COSMIC
20g.63406762A>TCA409636805KCNQ2c.2555T>A (p.Ile852Asn)
c.2501T>A (p.Ile834Asn)
c.1898T>A (p.Ile633Asn)
c.2408T>A (p.Ile803Asn)
c.2069T>A (p.Ile690Asn)
c.2417T>A (p.Ile806Asn)
c.2241+284T>A (n.2241+284T>A)
c.2205+284T>A (n.2205+284T>A)
c.2447T>A (p.Ile816Asn)
c.2133+284T>A (n.2133+284T>A)
c.1680-5919T>A (n.1680-5919T>A)
c.2543T>A (p.Ile848Asn)
c.2609T>A (p.Ile870Asn)
c.2606T>A (p.Ile869Asn)
c.2579T>A (p.Ile860Asn)
c.2525T>A (p.Ile842Asn)
c.2498T>A (p.Ile833Asn)
c.2483T>A (p.Ile828Asn)
c.2090T>A (p.Ile697Asn)
c.2552T>A (p.Ile851Asn)
c.2489T>A (p.Ile830Asn)
c.2486T>A (p.Ile829Asn)
c.2444T>A (p.Ile815Asn)
c.1517T>A (p.Ile506Asn)
20g.63406763T>ACA409636808KCNQ2c.2554A>T (p.Ile852Phe)
c.2500A>T (p.Ile834Phe)
c.1897A>T (p.Ile633Phe)
c.2407A>T (p.Ile803Phe)
c.2068A>T (p.Ile690Phe)
c.2416A>T (p.Ile806Phe)
c.2241+283A>T (n.2241+283A>T)
c.2205+283A>T (n.2205+283A>T)
c.2446A>T (p.Ile816Phe)
c.2133+283A>T (n.2133+283A>T)
c.1680-5920A>T (n.1680-5920A>T)
c.2542A>T (p.Ile848Phe)
c.2608A>T (p.Ile870Phe)
c.2605A>T (p.Ile869Phe)
c.2578A>T (p.Ile860Phe)
c.2524A>T (p.Ile842Phe)
c.2497A>T (p.Ile833Phe)
c.2482A>T (p.Ile828Phe)
c.2089A>T (p.Ile697Phe)
c.2551A>T (p.Ile851Phe)
c.2488A>T (p.Ile830Phe)
c.2485A>T (p.Ile829Phe)
c.2443A>T (p.Ile815Phe)
c.1516A>T (p.Ile506Phe)
20g.63406763T>CCA409636810KCNQ2c.2554A>G (p.Ile852Val)
c.2500A>G (p.Ile834Val)
c.1897A>G (p.Ile633Val)
c.2407A>G (p.Ile803Val)
c.2068A>G (p.Ile690Val)
c.2416A>G (p.Ile806Val)
c.2241+283A>G (n.2241+283A>G)
c.2205+283A>G (n.2205+283A>G)
c.2446A>G (p.Ile816Val)
c.2133+283A>G (n.2133+283A>G)
c.1680-5920A>G (n.1680-5920A>G)
c.2542A>G (p.Ile848Val)
c.2608A>G (p.Ile870Val)
c.2605A>G (p.Ile869Val)
c.2578A>G (p.Ile860Val)
c.2524A>G (p.Ile842Val)
c.2497A>G (p.Ile833Val)
c.2482A>G (p.Ile828Val)
c.2089A>G (p.Ile697Val)
c.2551A>G (p.Ile851Val)
c.2488A>G (p.Ile830Val)
c.2485A>G (p.Ile829Val)
c.2443A>G (p.Ile815Val)
c.1516A>G (p.Ile506Val)
 ClinVar dbSNP gnomAD v4
20g.63406763T>GCA409636812KCNQ2c.2554A>C (p.Ile852Leu)
c.2500A>C (p.Ile834Leu)
c.1897A>C (p.Ile633Leu)
c.2407A>C (p.Ile803Leu)
c.2068A>C (p.Ile690Leu)
c.2416A>C (p.Ile806Leu)
c.2241+283A>C (n.2241+283A>C)
c.2205+283A>C (n.2205+283A>C)
c.2446A>C (p.Ile816Leu)
c.2133+283A>C (n.2133+283A>C)
c.1680-5920A>C (n.1680-5920A>C)
c.2542A>C (p.Ile848Leu)
c.2608A>C (p.Ile870Leu)
c.2605A>C (p.Ile869Leu)
c.2578A>C (p.Ile860Leu)
c.2524A>C (p.Ile842Leu)
c.2497A>C (p.Ile833Leu)
c.2482A>C (p.Ile828Leu)
c.2089A>C (p.Ile697Leu)
c.2551A>C (p.Ile851Leu)
c.2488A>C (p.Ile830Leu)
c.2485A>C (p.Ile829Leu)
c.2443A>C (p.Ile815Leu)
c.1516A>C (p.Ile506Leu)
20g.63406763T=CA2374774234KCNQ2c.2554A= (p.Ile852=)
c.2500A= (p.Ile834=)
c.1897A= (p.Ile633=)
c.2407A= (p.Ile803=)
c.2068A= (p.Ile690=)
c.2416A= (p.Ile806=)
c.2241+283A= (n.2241+283A=)
c.2205+283A= (n.2205+283A=)
c.2446A= (p.Ile816=)
c.2133+283A= (n.2133+283A=)
c.1680-5920A= (n.1680-5920A=)
c.2542A= (p.Ile848=)
c.2608A= (p.Ile870=)
c.2605A= (p.Ile869=)
c.2578A= (p.Ile860=)
c.2524A= (p.Ile842=)
c.2497A= (p.Ile833=)
c.2482A= (p.Ile828=)
c.2089A= (p.Ile697=)
c.2551A= (p.Ile851=)
c.2488A= (p.Ile830=)
c.2485A= (p.Ile829=)
c.2443A= (p.Ile815=)
c.1516A= (p.Ile506=)
20g.63406764delCA2653804728KCNQ2c.2553del (p.Tyr851Ter)
c.2499del (p.Tyr833Ter)
c.1896del (p.Tyr632Ter)
c.2406del (p.Tyr802Ter)
c.2067del (p.Tyr689Ter)
c.2415del (p.Tyr805Ter)
c.2241+282del (n.2241+282del)
c.2205+282del (n.2205+282del)
c.2445del (p.Tyr815Ter)
c.2133+282del (n.2133+282del)
c.1680-5921del (n.1680-5921del)
c.2541del (p.Tyr847Ter)
c.2607del (p.Tyr869Ter)
c.2604del (p.Tyr868Ter)
c.2577del (p.Tyr859Ter)
c.2523del (p.Tyr841Ter)
c.2496del (p.Tyr832Ter)
c.2481del (p.Tyr827Ter)
c.2088del (p.Tyr696Ter)
c.2550del (p.Tyr850Ter)
c.2487del (p.Tyr829Ter)
c.2484del (p.Tyr828Ter)
c.2442del (p.Tyr814Ter)
c.1515del (p.Tyr505Ter)
 gnomAD v4
20g.63406764G>ACA511339249KCNQ2c.2553C>T (p.Tyr851=)
c.2499C>T (p.Tyr833=)
c.1896C>T (p.Tyr632=)
c.2406C>T (p.Tyr802=)
c.2067C>T (p.Tyr689=)
c.2415C>T (p.Tyr805=)
c.2241+282C>T (n.2241+282C>T)
c.2205+282C>T (n.2205+282C>T)
c.2445C>T (p.Tyr815=)
c.2133+282C>T (n.2133+282C>T)
c.1680-5921C>T (n.1680-5921C>T)
c.2541C>T (p.Tyr847=)
c.2607C>T (p.Tyr869=)
c.2604C>T (p.Tyr868=)
c.2577C>T (p.Tyr859=)
c.2523C>T (p.Tyr841=)
c.2496C>T (p.Tyr832=)
c.2481C>T (p.Tyr827=)
c.2088C>T (p.Tyr696=)
c.2550C>T (p.Tyr850=)
c.2487C>T (p.Tyr829=)
c.2484C>T (p.Tyr828=)
c.2442C>T (p.Tyr814=)
c.1515C>T (p.Tyr505=)
 dbSNP gnomAD v3 gnomAD v4
20g.63406764G>CCA409636815KCNQ2c.2553C>G (p.Tyr851Ter)
c.2499C>G (p.Tyr833Ter)
c.1896C>G (p.Tyr632Ter)
c.2406C>G (p.Tyr802Ter)
c.2067C>G (p.Tyr689Ter)
c.2415C>G (p.Tyr805Ter)
c.2241+282C>G (n.2241+282C>G)
c.2205+282C>G (n.2205+282C>G)
c.2445C>G (p.Tyr815Ter)
c.2133+282C>G (n.2133+282C>G)
c.1680-5921C>G (n.1680-5921C>G)
c.2541C>G (p.Tyr847Ter)
c.2607C>G (p.Tyr869Ter)
c.2604C>G (p.Tyr868Ter)
c.2577C>G (p.Tyr859Ter)
c.2523C>G (p.Tyr841Ter)
c.2496C>G (p.Tyr832Ter)
c.2481C>G (p.Tyr827Ter)
c.2088C>G (p.Tyr696Ter)
c.2550C>G (p.Tyr850Ter)
c.2487C>G (p.Tyr829Ter)
c.2484C>G (p.Tyr828Ter)
c.2442C>G (p.Tyr814Ter)
c.1515C>G (p.Tyr505Ter)
20g.63406764G=CA2374774235KCNQ2c.2553C= (p.Tyr851=)
c.2499C= (p.Tyr833=)
c.1896C= (p.Tyr632=)
c.2406C= (p.Tyr802=)
c.2067C= (p.Tyr689=)
c.2415C= (p.Tyr805=)
c.2241+282C= (n.2241+282C=)
c.2205+282C= (n.2205+282C=)
c.2445C= (p.Tyr815=)
c.2133+282C= (n.2133+282C=)
c.1680-5921C= (n.1680-5921C=)
c.2541C= (p.Tyr847=)
c.2607C= (p.Tyr869=)
c.2604C= (p.Tyr868=)
c.2577C= (p.Tyr859=)
c.2523C= (p.Tyr841=)
c.2496C= (p.Tyr832=)
c.2481C= (p.Tyr827=)
c.2088C= (p.Tyr696=)
c.2550C= (p.Tyr850=)
c.2487C= (p.Tyr829=)
c.2484C= (p.Tyr828=)
c.2442C= (p.Tyr814=)
c.1515C= (p.Tyr505=)
20g.63406764G>TCA409636816KCNQ2c.2553C>A (p.Tyr851Ter)
c.2499C>A (p.Tyr833Ter)
c.1896C>A (p.Tyr632Ter)
c.2406C>A (p.Tyr802Ter)
c.2067C>A (p.Tyr689Ter)
c.2415C>A (p.Tyr805Ter)
c.2241+282C>A (n.2241+282C>A)
c.2205+282C>A (n.2205+282C>A)
c.2445C>A (p.Tyr815Ter)
c.2133+282C>A (n.2133+282C>A)
c.1680-5921C>A (n.1680-5921C>A)
c.2541C>A (p.Tyr847Ter)
c.2607C>A (p.Tyr869Ter)
c.2604C>A (p.Tyr868Ter)
c.2577C>A (p.Tyr859Ter)
c.2523C>A (p.Tyr841Ter)
c.2496C>A (p.Tyr832Ter)
c.2481C>A (p.Tyr827Ter)
c.2088C>A (p.Tyr696Ter)
c.2550C>A (p.Tyr850Ter)
c.2487C>A (p.Tyr829Ter)
c.2484C>A (p.Tyr828Ter)
c.2442C>A (p.Tyr814Ter)
c.1515C>A (p.Tyr505Ter)
20g.63406765T>ACA409636822KCNQ2c.2552A>T (p.Tyr851Phe)
c.2498A>T (p.Tyr833Phe)
c.1895A>T (p.Tyr632Phe)
c.2405A>T (p.Tyr802Phe)
c.2066A>T (p.Tyr689Phe)
c.2414A>T (p.Tyr805Phe)
c.2241+281A>T (n.2241+281A>T)
c.2205+281A>T (n.2205+281A>T)
c.2444A>T (p.Tyr815Phe)
c.2133+281A>T (n.2133+281A>T)
c.1680-5922A>T (n.1680-5922A>T)
c.2540A>T (p.Tyr847Phe)
c.2606A>T (p.Tyr869Phe)
c.2603A>T (p.Tyr868Phe)
c.2576A>T (p.Tyr859Phe)
c.2522A>T (p.Tyr841Phe)
c.2495A>T (p.Tyr832Phe)
c.2480A>T (p.Tyr827Phe)
c.2087A>T (p.Tyr696Phe)
c.2549A>T (p.Tyr850Phe)
c.2486A>T (p.Tyr829Phe)
c.2483A>T (p.Tyr828Phe)
c.2441A>T (p.Tyr814Phe)
c.1514A>T (p.Tyr505Phe)
20g.63406765T>CCA409636820KCNQ2c.2552A>G (p.Tyr851Cys)
c.2498A>G (p.Tyr833Cys)
c.1895A>G (p.Tyr632Cys)
c.2405A>G (p.Tyr802Cys)
c.2066A>G (p.Tyr689Cys)
c.2414A>G (p.Tyr805Cys)
c.2241+281A>G (n.2241+281A>G)
c.2205+281A>G (n.2205+281A>G)
c.2444A>G (p.Tyr815Cys)
c.2133+281A>G (n.2133+281A>G)
c.1680-5922A>G (n.1680-5922A>G)
c.2540A>G (p.Tyr847Cys)
c.2606A>G (p.Tyr869Cys)
c.2603A>G (p.Tyr868Cys)
c.2576A>G (p.Tyr859Cys)
c.2522A>G (p.Tyr841Cys)
c.2495A>G (p.Tyr832Cys)
c.2480A>G (p.Tyr827Cys)
c.2087A>G (p.Tyr696Cys)
c.2549A>G (p.Tyr850Cys)
c.2486A>G (p.Tyr829Cys)
c.2483A>G (p.Tyr828Cys)
c.2441A>G (p.Tyr814Cys)
c.1514A>G (p.Tyr505Cys)
20g.63406765T>GCA409636818KCNQ2c.2552A>C (p.Tyr851Ser)
c.2498A>C (p.Tyr833Ser)
c.1895A>C (p.Tyr632Ser)
c.2405A>C (p.Tyr802Ser)
c.2066A>C (p.Tyr689Ser)
c.2414A>C (p.Tyr805Ser)
c.2241+281A>C (n.2241+281A>C)
c.2205+281A>C (n.2205+281A>C)
c.2444A>C (p.Tyr815Ser)
c.2133+281A>C (n.2133+281A>C)
c.1680-5922A>C (n.1680-5922A>C)
c.2540A>C (p.Tyr847Ser)
c.2606A>C (p.Tyr869Ser)
c.2603A>C (p.Tyr868Ser)
c.2576A>C (p.Tyr859Ser)
c.2522A>C (p.Tyr841Ser)
c.2495A>C (p.Tyr832Ser)
c.2480A>C (p.Tyr827Ser)
c.2087A>C (p.Tyr696Ser)
c.2549A>C (p.Tyr850Ser)
c.2486A>C (p.Tyr829Ser)
c.2483A>C (p.Tyr828Ser)
c.2441A>C (p.Tyr814Ser)
c.1514A>C (p.Tyr505Ser)
20g.63406766A=CA2374774236KCNQ2c.2551T= (p.Tyr851=)
c.2497T= (p.Tyr833=)
c.1894T= (p.Tyr632=)
c.2404T= (p.Tyr802=)
c.2065T= (p.Tyr689=)
c.2413T= (p.Tyr805=)
c.2241+280T= (n.2241+280T=)
c.2205+280T= (n.2205+280T=)
c.2443T= (p.Tyr815=)
c.2133+280T= (n.2133+280T=)
c.1680-5923T= (n.1680-5923T=)
c.2539T= (p.Tyr847=)
c.2605T= (p.Tyr869=)
c.2602T= (p.Tyr868=)
c.2575T= (p.Tyr859=)
c.2521T= (p.Tyr841=)
c.2494T= (p.Tyr832=)
c.2479T= (p.Tyr827=)
c.2086T= (p.Tyr696=)
c.2548T= (p.Tyr850=)
c.2485T= (p.Tyr829=)
c.2482T= (p.Tyr828=)
c.2440T= (p.Tyr814=)
c.1513T= (p.Tyr505=)
20g.63406766A>CCA409636824KCNQ2c.2551T>G (p.Tyr851Asp)
c.2497T>G (p.Tyr833Asp)
c.1894T>G (p.Tyr632Asp)
c.2404T>G (p.Tyr802Asp)
c.2065T>G (p.Tyr689Asp)
c.2413T>G (p.Tyr805Asp)
c.2241+280T>G (n.2241+280T>G)
c.2205+280T>G (n.2205+280T>G)
c.2443T>G (p.Tyr815Asp)
c.2133+280T>G (n.2133+280T>G)
c.1680-5923T>G (n.1680-5923T>G)
c.2539T>G (p.Tyr847Asp)
c.2605T>G (p.Tyr869Asp)
c.2602T>G (p.Tyr868Asp)
c.2575T>G (p.Tyr859Asp)
c.2521T>G (p.Tyr841Asp)
c.2494T>G (p.Tyr832Asp)
c.2479T>G (p.Tyr827Asp)
c.2086T>G (p.Tyr696Asp)
c.2548T>G (p.Tyr850Asp)
c.2485T>G (p.Tyr829Asp)
c.2482T>G (p.Tyr828Asp)
c.2440T>G (p.Tyr814Asp)
c.1513T>G (p.Tyr505Asp)
20g.63406766A>GCA409636826KCNQ2c.2551T>C (p.Tyr851His)
c.2497T>C (p.Tyr833His)
c.1894T>C (p.Tyr632His)
c.2404T>C (p.Tyr802His)
c.2065T>C (p.Tyr689His)
c.2413T>C (p.Tyr805His)
c.2241+280T>C (n.2241+280T>C)
c.2205+280T>C (n.2205+280T>C)
c.2443T>C (p.Tyr815His)
c.2133+280T>C (n.2133+280T>C)
c.1680-5923T>C (n.1680-5923T>C)
c.2539T>C (p.Tyr847His)
c.2605T>C (p.Tyr869His)
c.2602T>C (p.Tyr868His)
c.2575T>C (p.Tyr859His)
c.2521T>C (p.Tyr841His)
c.2494T>C (p.Tyr832His)
c.2479T>C (p.Tyr827His)
c.2086T>C (p.Tyr696His)
c.2548T>C (p.Tyr850His)
c.2485T>C (p.Tyr829His)
c.2482T>C (p.Tyr828His)
c.2440T>C (p.Tyr814His)
c.1513T>C (p.Tyr505His)
 dbSNP gnomAD v4
20g.63406766A>TCA409636828KCNQ2c.2551T>A (p.Tyr851Asn)
c.2497T>A (p.Tyr833Asn)
c.1894T>A (p.Tyr632Asn)
c.2404T>A (p.Tyr802Asn)
c.2065T>A (p.Tyr689Asn)
c.2413T>A (p.Tyr805Asn)
c.2241+280T>A (n.2241+280T>A)
c.2205+280T>A (n.2205+280T>A)
c.2443T>A (p.Tyr815Asn)
c.2133+280T>A (n.2133+280T>A)
c.1680-5923T>A (n.1680-5923T>A)
c.2539T>A (p.Tyr847Asn)
c.2605T>A (p.Tyr869Asn)
c.2602T>A (p.Tyr868Asn)
c.2575T>A (p.Tyr859Asn)
c.2521T>A (p.Tyr841Asn)
c.2494T>A (p.Tyr832Asn)
c.2479T>A (p.Tyr827Asn)
c.2086T>A (p.Tyr696Asn)
c.2548T>A (p.Tyr850Asn)
c.2485T>A (p.Tyr829Asn)
c.2482T>A (p.Tyr828Asn)
c.2440T>A (p.Tyr814Asn)
c.1513T>A (p.Tyr505Asn)
20g.63406767G>ACA511339253KCNQ2c.2550C>T (p.Pro850=)
c.2496C>T (p.Pro832=)
c.1893C>T (p.Pro631=)
c.2403C>T (p.Pro801=)
c.2064C>T (p.Pro688=)
c.2412C>T (p.Pro804=)
c.2241+279C>T (n.2241+279C>T)
c.2205+279C>T (n.2205+279C>T)
c.2442C>T (p.Pro814=)
c.2133+279C>T (n.2133+279C>T)
c.1680-5924C>T (n.1680-5924C>T)
c.2538C>T (p.Pro846=)
c.2604C>T (p.Pro868=)
c.2601C>T (p.Pro867=)
c.2574C>T (p.Pro858=)
c.2520C>T (p.Pro840=)
c.2493C>T (p.Pro831=)
c.2478C>T (p.Pro826=)
c.2085C>T (p.Pro695=)
c.2547C>T (p.Pro849=)
c.2484C>T (p.Pro828=)
c.2481C>T (p.Pro827=)
c.2439C>T (p.Pro813=)
c.1512C>T (p.Pro504=)
 dbSNP gnomAD v2
20g.63406767G>CCA511339254KCNQ2c.2550C>G (p.Pro850=)
c.2496C>G (p.Pro832=)
c.1893C>G (p.Pro631=)
c.2403C>G (p.Pro801=)
c.2064C>G (p.Pro688=)
c.2412C>G (p.Pro804=)
c.2241+279C>G (n.2241+279C>G)
c.2205+279C>G (n.2205+279C>G)
c.2442C>G (p.Pro814=)
c.2133+279C>G (n.2133+279C>G)
c.1680-5924C>G (n.1680-5924C>G)
c.2538C>G (p.Pro846=)
c.2604C>G (p.Pro868=)
c.2601C>G (p.Pro867=)
c.2574C>G (p.Pro858=)
c.2520C>G (p.Pro840=)
c.2493C>G (p.Pro831=)
c.2478C>G (p.Pro826=)
c.2085C>G (p.Pro695=)
c.2547C>G (p.Pro849=)
c.2484C>G (p.Pro828=)
c.2481C>G (p.Pro827=)
c.2439C>G (p.Pro813=)
c.1512C>G (p.Pro504=)
 COSMIC COSMIC COSMIC
20g.63406767G=CA2374774237KCNQ2c.2550C= (p.Pro850=)
c.2496C= (p.Pro832=)
c.1893C= (p.Pro631=)
c.2403C= (p.Pro801=)
c.2064C= (p.Pro688=)
c.2412C= (p.Pro804=)
c.2241+279C= (n.2241+279C=)
c.2205+279C= (n.2205+279C=)
c.2442C= (p.Pro814=)
c.2133+279C= (n.2133+279C=)
c.1680-5924C= (n.1680-5924C=)
c.2538C= (p.Pro846=)
c.2604C= (p.Pro868=)
c.2601C= (p.Pro867=)
c.2574C= (p.Pro858=)
c.2520C= (p.Pro840=)
c.2493C= (p.Pro831=)
c.2478C= (p.Pro826=)
c.2085C= (p.Pro695=)
c.2547C= (p.Pro849=)
c.2484C= (p.Pro828=)
c.2481C= (p.Pro827=)
c.2439C= (p.Pro813=)
c.1512C= (p.Pro504=)
20g.63406767G>TCA511339256KCNQ2c.2550C>A (p.Pro850=)
c.2496C>A (p.Pro832=)
c.1893C>A (p.Pro631=)
c.2403C>A (p.Pro801=)
c.2064C>A (p.Pro688=)
c.2412C>A (p.Pro804=)
c.2241+279C>A (n.2241+279C>A)
c.2205+279C>A (n.2205+279C>A)
c.2442C>A (p.Pro814=)
c.2133+279C>A (n.2133+279C>A)
c.1680-5924C>A (n.1680-5924C>A)
c.2538C>A (p.Pro846=)
c.2604C>A (p.Pro868=)
c.2601C>A (p.Pro867=)
c.2574C>A (p.Pro858=)
c.2520C>A (p.Pro840=)
c.2493C>A (p.Pro831=)
c.2478C>A (p.Pro826=)
c.2085C>A (p.Pro695=)
c.2547C>A (p.Pro849=)
c.2484C>A (p.Pro828=)
c.2481C>A (p.Pro827=)
c.2439C>A (p.Pro813=)
c.1512C>A (p.Pro504=)

Number of alleles fetched