| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63406638_63406666del | CA2653804141 | KCNQ2 | c.2659_*14del (n.[c.2659_*14del;Gly887SerfsTer28]) c.2605_*14del (n.[c.2605_*14del;Gly869SerfsTer28]) c.2002_*14del (n.[c.2002_*14del;Gly668SerfsTer28]) c.2512_*14del (n.[c.2512_*14del;Gly838SerfsTer28]) c.2173_2201del (n.[c.2173_2201del;Gly725SerfsTer28]) c.2521_*14del (n.[c.2521_*14del;Gly841SerfsTer28]) c.2241+388_2241+416del (n.2241+388_2241+416del) c.2205+388_2205+416del (n.2205+388_2205+416del) c.2551_*14del (n.[c.2551_*14del;Gly851SerfsTer28]) c.2133+388_2133+416del (n.2133+388_2133+416del) c.1680-5815_1680-5787del (n.1680-5815_1680-5787del) c.2647_*14del (n.[c.2647_*14del;Gly883SerfsTer28]) c.2713_*14del (n.[c.2713_*14del;Gly905SerfsTer28]) c.2710_*14del (n.[c.2710_*14del;Gly904SerfsTer28]) c.2683_*14del (n.[c.2683_*14del;Gly895SerfsTer28]) c.2629_*14del (n.[c.2629_*14del;Gly877SerfsTer28]) c.2602_*14del (n.[c.2602_*14del;Gly868SerfsTer28]) c.2587_*14del (n.[c.2587_*14del;Gly863SerfsTer28]) c.2194_*14del (n.[c.2194_*14del;Gly732SerfsTer28]) c.2656_*14del (n.[c.2656_*14del;Gly886SerfsTer28]) c.2593_*14del (n.[c.2593_*14del;Gly865SerfsTer28]) c.2590_*14del (n.[c.2590_*14del;Gly864SerfsTer28]) c.2548_*14del (n.[c.2548_*14del;Gly850SerfsTer28]) c.1621_*14del (n.[c.1621_*14del;Gly541SerfsTer28]) | gnomAD v4 |
| 20 | g.63406659_63406663dup | CA342497 | KCNQ2 | c.2659_2663dup (p.Arg889GlyfsTer?) c.2605_2609dup (p.Arg871GlyfsTer?) c.2002_2006dup (p.Arg670GlyfsTer?) c.2512_2516dup (p.Arg840GlyfsTer?) c.2173_2177dup (p.Arg727GlyfsTer?) c.2521_2525dup (p.Arg843GlyfsTer?) c.2241+388_2241+392dup (n.2241+388_2241+392dup) c.2205+388_2205+392dup (n.2205+388_2205+392dup) c.2551_2555dup (p.Arg853GlyfsTer?) c.2133+388_2133+392dup (n.2133+388_2133+392dup) c.1680-5815_1680-5811dup (n.1680-5815_1680-5811dup) c.2647_2651dup (p.Arg885GlyfsTer?) c.2713_2717dup (p.Arg907GlyfsTer?) c.2710_2714dup (p.Arg906GlyfsTer?) c.2683_2687dup (p.Arg897GlyfsTer?) c.2629_2633dup (p.Arg879GlyfsTer?) c.2602_2606dup (p.Arg870GlyfsTer?) c.2587_2591dup (p.Arg865GlyfsTer?) c.2194_2198dup (p.Arg734GlyfsTer?) c.2656_2660dup (p.Arg888GlyfsTer?) c.2593_2597dup (p.Arg867GlyfsTer?) c.2590_2594dup (p.Arg866GlyfsTer?) c.2548_2552dup (p.Arg852GlyfsTer?) c.1621_1625dup (p.Arg543GlyfsTer?) | ClinVar dbSNP |
| 20 | g.63406660G>A | CA409636366 | KCNQ2 | c.2657C>T (p.Ala886Val) c.2603C>T (p.Ala868Val) c.2000C>T (p.Ala667Val) c.2510C>T (p.Ala837Val) c.2171C>T (p.Ala724Val) c.2519C>T (p.Ala840Val) c.2241+386C>T (n.2241+386C>T) c.2205+386C>T (n.2205+386C>T) c.2549C>T (p.Ala850Val) c.2133+386C>T (n.2133+386C>T) c.1680-5817C>T (n.1680-5817C>T) c.2645C>T (p.Ala882Val) c.2711C>T (p.Ala904Val) c.2708C>T (p.Ala903Val) c.2681C>T (p.Ala894Val) c.2627C>T (p.Ala876Val) c.2600C>T (p.Ala867Val) c.2585C>T (p.Ala862Val) c.2192C>T (p.Ala731Val) c.2654C>T (p.Ala885Val) c.2591C>T (p.Ala864Val) c.2588C>T (p.Ala863Val) c.2546C>T (p.Ala849Val) c.1619C>T (p.Ala540Val) | gnomAD v4 |
| 20 | g.63406660G>C | CA409636369 | KCNQ2 | c.2657C>G (p.Ala886Gly) c.2603C>G (p.Ala868Gly) c.2000C>G (p.Ala667Gly) c.2510C>G (p.Ala837Gly) c.2171C>G (p.Ala724Gly) c.2519C>G (p.Ala840Gly) c.2241+386C>G (n.2241+386C>G) c.2205+386C>G (n.2205+386C>G) c.2549C>G (p.Ala850Gly) c.2133+386C>G (n.2133+386C>G) c.1680-5817C>G (n.1680-5817C>G) c.2645C>G (p.Ala882Gly) c.2711C>G (p.Ala904Gly) c.2708C>G (p.Ala903Gly) c.2681C>G (p.Ala894Gly) c.2627C>G (p.Ala876Gly) c.2600C>G (p.Ala867Gly) c.2585C>G (p.Ala862Gly) c.2192C>G (p.Ala731Gly) c.2654C>G (p.Ala885Gly) c.2591C>G (p.Ala864Gly) c.2588C>G (p.Ala863Gly) c.2546C>G (p.Ala849Gly) c.1619C>G (p.Ala540Gly) | |
| 20 | g.63406660G>T | CA409636371 | KCNQ2 | c.2657C>A (p.Ala886Asp) c.2603C>A (p.Ala868Asp) c.2000C>A (p.Ala667Asp) c.2510C>A (p.Ala837Asp) c.2171C>A (p.Ala724Asp) c.2519C>A (p.Ala840Asp) c.2241+386C>A (n.2241+386C>A) c.2205+386C>A (n.2205+386C>A) c.2549C>A (p.Ala850Asp) c.2133+386C>A (n.2133+386C>A) c.1680-5817C>A (n.1680-5817C>A) c.2645C>A (p.Ala882Asp) c.2711C>A (p.Ala904Asp) c.2708C>A (p.Ala903Asp) c.2681C>A (p.Ala894Asp) c.2627C>A (p.Ala876Asp) c.2600C>A (p.Ala867Asp) c.2585C>A (p.Ala862Asp) c.2192C>A (p.Ala731Asp) c.2654C>A (p.Ala885Asp) c.2591C>A (p.Ala864Asp) c.2588C>A (p.Ala863Asp) c.2546C>A (p.Ala849Asp) c.1619C>A (p.Ala540Asp) | gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.63406665_63406669dup | CA10654777 | KCNQ2 | c.2653_2657dup (p.Arg889GlyfsTer?) c.2599_2603dup (p.Arg871GlyfsTer?) c.1996_2000dup (p.Arg670GlyfsTer?) c.2506_2510dup (p.Arg840GlyfsTer?) c.2167_2171dup (p.Arg727GlyfsTer?) c.2515_2519dup (p.Arg843GlyfsTer?) c.2241+382_2241+386dup (n.2241+382_2241+386dup) c.2205+382_2205+386dup (n.2205+382_2205+386dup) c.2545_2549dup (p.Arg853GlyfsTer?) c.2133+382_2133+386dup (n.2133+382_2133+386dup) c.1680-5821_1680-5817dup (n.1680-5821_1680-5817dup) c.2641_2645dup (p.Arg885GlyfsTer?) c.2707_2711dup (p.Arg907GlyfsTer?) c.2704_2708dup (p.Arg906GlyfsTer?) c.2677_2681dup (p.Arg897GlyfsTer?) c.2623_2627dup (p.Arg879GlyfsTer?) c.2596_2600dup (p.Arg870GlyfsTer?) c.2581_2585dup (p.Arg865GlyfsTer?) c.2188_2192dup (p.Arg734GlyfsTer?) c.2650_2654dup (p.Arg888GlyfsTer?) c.2587_2591dup (p.Arg867GlyfsTer?) c.2584_2588dup (p.Arg866GlyfsTer?) c.2542_2546dup (p.Arg852GlyfsTer?) c.1615_1619dup (p.Arg543GlyfsTer?) | ClinVar dbSNP |
| 20 | g.63406661C>A | CA409636376 | KCNQ2 | c.2656G>T (p.Ala886Ser) c.2602G>T (p.Ala868Ser) c.1999G>T (p.Ala667Ser) c.2509G>T (p.Ala837Ser) c.2170G>T (p.Ala724Ser) c.2518G>T (p.Ala840Ser) c.2241+385G>T (n.2241+385G>T) c.2205+385G>T (n.2205+385G>T) c.2548G>T (p.Ala850Ser) c.2133+385G>T (n.2133+385G>T) c.1680-5818G>T (n.1680-5818G>T) c.2644G>T (p.Ala882Ser) c.2710G>T (p.Ala904Ser) c.2707G>T (p.Ala903Ser) c.2680G>T (p.Ala894Ser) c.2626G>T (p.Ala876Ser) c.2599G>T (p.Ala867Ser) c.2584G>T (p.Ala862Ser) c.2191G>T (p.Ala731Ser) c.2653G>T (p.Ala885Ser) c.2590G>T (p.Ala864Ser) c.2587G>T (p.Ala863Ser) c.2545G>T (p.Ala849Ser) c.1618G>T (p.Ala540Ser) | gnomAD v4 |
| 20 | g.63406661C= | CA2374774181 | KCNQ2 | c.2656G= (p.Ala886=) c.2602G= (p.Ala868=) c.1999G= (p.Ala667=) c.2509G= (p.Ala837=) c.2170G= (p.Ala724=) c.2518G= (p.Ala840=) c.2241+385G= (n.2241+385G=) c.2205+385G= (n.2205+385G=) c.2548G= (p.Ala850=) c.2133+385G= (n.2133+385G=) c.1680-5818G= (n.1680-5818G=) c.2644G= (p.Ala882=) c.2710G= (p.Ala904=) c.2707G= (p.Ala903=) c.2680G= (p.Ala894=) c.2626G= (p.Ala876=) c.2599G= (p.Ala867=) c.2584G= (p.Ala862=) c.2191G= (p.Ala731=) c.2653G= (p.Ala885=) c.2590G= (p.Ala864=) c.2587G= (p.Ala863=) c.2545G= (p.Ala849=) c.1618G= (p.Ala540=) | |
| 20 | g.63406661C>G | CA9958052 | KCNQ2 | c.2656G>C (p.Ala886Pro) c.2602G>C (p.Ala868Pro) c.1999G>C (p.Ala667Pro) c.2509G>C (p.Ala837Pro) c.2170G>C (p.Ala724Pro) c.2518G>C (p.Ala840Pro) c.2241+385G>C (n.2241+385G>C) c.2205+385G>C (n.2205+385G>C) c.2548G>C (p.Ala850Pro) c.2133+385G>C (n.2133+385G>C) c.1680-5818G>C (n.1680-5818G>C) c.2644G>C (p.Ala882Pro) c.2710G>C (p.Ala904Pro) c.2707G>C (p.Ala903Pro) c.2680G>C (p.Ala894Pro) c.2626G>C (p.Ala876Pro) c.2599G>C (p.Ala867Pro) c.2584G>C (p.Ala862Pro) c.2191G>C (p.Ala731Pro) c.2653G>C (p.Ala885Pro) c.2590G>C (p.Ala864Pro) c.2587G>C (p.Ala863Pro) c.2545G>C (p.Ala849Pro) c.1618G>C (p.Ala540Pro) | ClinVar dbSNP ExAC |
| 20 | g.63406661C>T | CA409636374 | KCNQ2 | c.2656G>A (p.Ala886Thr) c.2602G>A (p.Ala868Thr) c.1999G>A (p.Ala667Thr) c.2509G>A (p.Ala837Thr) c.2170G>A (p.Ala724Thr) c.2518G>A (p.Ala840Thr) c.2241+385G>A (n.2241+385G>A) c.2205+385G>A (n.2205+385G>A) c.2548G>A (p.Ala850Thr) c.2133+385G>A (n.2133+385G>A) c.1680-5818G>A (n.1680-5818G>A) c.2644G>A (p.Ala882Thr) c.2710G>A (p.Ala904Thr) c.2707G>A (p.Ala903Thr) c.2680G>A (p.Ala894Thr) c.2626G>A (p.Ala876Thr) c.2599G>A (p.Ala867Thr) c.2584G>A (p.Ala862Thr) c.2191G>A (p.Ala731Thr) c.2653G>A (p.Ala885Thr) c.2590G>A (p.Ala864Thr) c.2587G>A (p.Ala863Thr) c.2545G>A (p.Ala849Thr) c.1618G>A (p.Ala540Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63406662C>A | CA409636379 | KCNQ2 | c.2655G>T (p.Trp885Cys) c.2601G>T (p.Trp867Cys) c.1998G>T (p.Trp666Cys) c.2508G>T (p.Trp836Cys) c.2169G>T (p.Trp723Cys) c.2517G>T (p.Trp839Cys) c.2241+384G>T (n.2241+384G>T) c.2205+384G>T (n.2205+384G>T) c.2547G>T (p.Trp849Cys) c.2133+384G>T (n.2133+384G>T) c.1680-5819G>T (n.1680-5819G>T) c.2643G>T (p.Trp881Cys) c.2709G>T (p.Trp903Cys) c.2706G>T (p.Trp902Cys) c.2679G>T (p.Trp893Cys) c.2625G>T (p.Trp875Cys) c.2598G>T (p.Trp866Cys) c.2583G>T (p.Trp861Cys) c.2190G>T (p.Trp730Cys) c.2652G>T (p.Trp884Cys) c.2589G>T (p.Trp863Cys) c.2586G>T (p.Trp862Cys) c.2544G>T (p.Trp848Cys) c.1617G>T (p.Trp539Cys) | |
| 20 | g.63406662C>G | CA409636381 | KCNQ2 | c.2655G>C (p.Trp885Cys) c.2601G>C (p.Trp867Cys) c.1998G>C (p.Trp666Cys) c.2508G>C (p.Trp836Cys) c.2169G>C (p.Trp723Cys) c.2517G>C (p.Trp839Cys) c.2241+384G>C (n.2241+384G>C) c.2205+384G>C (n.2205+384G>C) c.2547G>C (p.Trp849Cys) c.2133+384G>C (n.2133+384G>C) c.1680-5819G>C (n.1680-5819G>C) c.2643G>C (p.Trp881Cys) c.2709G>C (p.Trp903Cys) c.2706G>C (p.Trp902Cys) c.2679G>C (p.Trp893Cys) c.2625G>C (p.Trp875Cys) c.2598G>C (p.Trp866Cys) c.2583G>C (p.Trp861Cys) c.2190G>C (p.Trp730Cys) c.2652G>C (p.Trp884Cys) c.2589G>C (p.Trp863Cys) c.2586G>C (p.Trp862Cys) c.2544G>C (p.Trp848Cys) c.1617G>C (p.Trp539Cys) | |
| 20 | g.63406662C>T | CA409636383 | KCNQ2 | c.2655G>A (p.Trp885Ter) c.2601G>A (p.Trp867Ter) c.1998G>A (p.Trp666Ter) c.2508G>A (p.Trp836Ter) c.2169G>A (p.Trp723Ter) c.2517G>A (p.Trp839Ter) c.2241+384G>A (n.2241+384G>A) c.2205+384G>A (n.2205+384G>A) c.2547G>A (p.Trp849Ter) c.2133+384G>A (n.2133+384G>A) c.1680-5819G>A (n.1680-5819G>A) c.2643G>A (p.Trp881Ter) c.2709G>A (p.Trp903Ter) c.2706G>A (p.Trp902Ter) c.2679G>A (p.Trp893Ter) c.2625G>A (p.Trp875Ter) c.2598G>A (p.Trp866Ter) c.2583G>A (p.Trp861Ter) c.2190G>A (p.Trp730Ter) c.2652G>A (p.Trp884Ter) c.2589G>A (p.Trp863Ter) c.2586G>A (p.Trp862Ter) c.2544G>A (p.Trp848Ter) c.1617G>A (p.Trp539Ter) | gnomAD v4 |
| 20 | g.63406663C>A | CA409636384 | KCNQ2 | c.2654G>T (p.Trp885Leu) c.2600G>T (p.Trp867Leu) c.1997G>T (p.Trp666Leu) c.2507G>T (p.Trp836Leu) c.2168G>T (p.Trp723Leu) c.2516G>T (p.Trp839Leu) c.2241+383G>T (n.2241+383G>T) c.2205+383G>T (n.2205+383G>T) c.2546G>T (p.Trp849Leu) c.2133+383G>T (n.2133+383G>T) c.1680-5820G>T (n.1680-5820G>T) c.2642G>T (p.Trp881Leu) c.2708G>T (p.Trp903Leu) c.2705G>T (p.Trp902Leu) c.2678G>T (p.Trp893Leu) c.2624G>T (p.Trp875Leu) c.2597G>T (p.Trp866Leu) c.2582G>T (p.Trp861Leu) c.2189G>T (p.Trp730Leu) c.2651G>T (p.Trp884Leu) c.2588G>T (p.Trp863Leu) c.2585G>T (p.Trp862Leu) c.2543G>T (p.Trp848Leu) c.1616G>T (p.Trp539Leu) | gnomAD v4 |
| 20 | g.63406663C>G | CA409636385 | KCNQ2 | c.2654G>C (p.Trp885Ser) c.2600G>C (p.Trp867Ser) c.1997G>C (p.Trp666Ser) c.2507G>C (p.Trp836Ser) c.2168G>C (p.Trp723Ser) c.2516G>C (p.Trp839Ser) c.2241+383G>C (n.2241+383G>C) c.2205+383G>C (n.2205+383G>C) c.2546G>C (p.Trp849Ser) c.2133+383G>C (n.2133+383G>C) c.1680-5820G>C (n.1680-5820G>C) c.2642G>C (p.Trp881Ser) c.2708G>C (p.Trp903Ser) c.2705G>C (p.Trp902Ser) c.2678G>C (p.Trp893Ser) c.2624G>C (p.Trp875Ser) c.2597G>C (p.Trp866Ser) c.2582G>C (p.Trp861Ser) c.2189G>C (p.Trp730Ser) c.2651G>C (p.Trp884Ser) c.2588G>C (p.Trp863Ser) c.2585G>C (p.Trp862Ser) c.2543G>C (p.Trp848Ser) c.1616G>C (p.Trp539Ser) | |
| 20 | g.63406663C>T | CA409636387 | KCNQ2 | c.2654G>A (p.Trp885Ter) c.2600G>A (p.Trp867Ter) c.1997G>A (p.Trp666Ter) c.2507G>A (p.Trp836Ter) c.2168G>A (p.Trp723Ter) c.2516G>A (p.Trp839Ter) c.2241+383G>A (n.2241+383G>A) c.2205+383G>A (n.2205+383G>A) c.2546G>A (p.Trp849Ter) c.2133+383G>A (n.2133+383G>A) c.1680-5820G>A (n.1680-5820G>A) c.2642G>A (p.Trp881Ter) c.2708G>A (p.Trp903Ter) c.2705G>A (p.Trp902Ter) c.2678G>A (p.Trp893Ter) c.2624G>A (p.Trp875Ter) c.2597G>A (p.Trp866Ter) c.2582G>A (p.Trp861Ter) c.2189G>A (p.Trp730Ter) c.2651G>A (p.Trp884Ter) c.2588G>A (p.Trp863Ter) c.2585G>A (p.Trp862Ter) c.2543G>A (p.Trp848Ter) c.1616G>A (p.Trp539Ter) | |
| 20 | g.63406664A= | CA2374774182 | KCNQ2 | c.2653T= (p.Trp885=) c.2599T= (p.Trp867=) c.1996T= (p.Trp666=) c.2506T= (p.Trp836=) c.2167T= (p.Trp723=) c.2515T= (p.Trp839=) c.2241+382T= (n.2241+382T=) c.2205+382T= (n.2205+382T=) c.2545T= (p.Trp849=) c.2133+382T= (n.2133+382T=) c.1680-5821T= (n.1680-5821T=) c.2641T= (p.Trp881=) c.2707T= (p.Trp903=) c.2704T= (p.Trp902=) c.2677T= (p.Trp893=) c.2623T= (p.Trp875=) c.2596T= (p.Trp866=) c.2581T= (p.Trp861=) c.2188T= (p.Trp730=) c.2650T= (p.Trp884=) c.2587T= (p.Trp863=) c.2584T= (p.Trp862=) c.2542T= (p.Trp848=) c.1615T= (p.Trp539=) | |
| 20 | g.63406664A>C | CA409636389 | KCNQ2 | c.2653T>G (p.Trp885Gly) c.2599T>G (p.Trp867Gly) c.1996T>G (p.Trp666Gly) c.2506T>G (p.Trp836Gly) c.2167T>G (p.Trp723Gly) c.2515T>G (p.Trp839Gly) c.2241+382T>G (n.2241+382T>G) c.2205+382T>G (n.2205+382T>G) c.2545T>G (p.Trp849Gly) c.2133+382T>G (n.2133+382T>G) c.1680-5821T>G (n.1680-5821T>G) c.2641T>G (p.Trp881Gly) c.2707T>G (p.Trp903Gly) c.2704T>G (p.Trp902Gly) c.2677T>G (p.Trp893Gly) c.2623T>G (p.Trp875Gly) c.2596T>G (p.Trp866Gly) c.2581T>G (p.Trp861Gly) c.2188T>G (p.Trp730Gly) c.2650T>G (p.Trp884Gly) c.2587T>G (p.Trp863Gly) c.2584T>G (p.Trp862Gly) c.2542T>G (p.Trp848Gly) c.1615T>G (p.Trp539Gly) | |
| 20 | g.63406664A>G | CA409636393 | KCNQ2 | c.2653T>C (p.Trp885Arg) c.2599T>C (p.Trp867Arg) c.1996T>C (p.Trp666Arg) c.2506T>C (p.Trp836Arg) c.2167T>C (p.Trp723Arg) c.2515T>C (p.Trp839Arg) c.2241+382T>C (n.2241+382T>C) c.2205+382T>C (n.2205+382T>C) c.2545T>C (p.Trp849Arg) c.2133+382T>C (n.2133+382T>C) c.1680-5821T>C (n.1680-5821T>C) c.2641T>C (p.Trp881Arg) c.2707T>C (p.Trp903Arg) c.2704T>C (p.Trp902Arg) c.2677T>C (p.Trp893Arg) c.2623T>C (p.Trp875Arg) c.2596T>C (p.Trp866Arg) c.2581T>C (p.Trp861Arg) c.2188T>C (p.Trp730Arg) c.2650T>C (p.Trp884Arg) c.2587T>C (p.Trp863Arg) c.2584T>C (p.Trp862Arg) c.2542T>C (p.Trp848Arg) c.1615T>C (p.Trp539Arg) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 20 | g.63406664A>T | CA409636391 | KCNQ2 | c.2653T>A (p.Trp885Arg) c.2599T>A (p.Trp867Arg) c.1996T>A (p.Trp666Arg) c.2506T>A (p.Trp836Arg) c.2167T>A (p.Trp723Arg) c.2515T>A (p.Trp839Arg) c.2241+382T>A (n.2241+382T>A) c.2205+382T>A (n.2205+382T>A) c.2545T>A (p.Trp849Arg) c.2133+382T>A (n.2133+382T>A) c.1680-5821T>A (n.1680-5821T>A) c.2641T>A (p.Trp881Arg) c.2707T>A (p.Trp903Arg) c.2704T>A (p.Trp902Arg) c.2677T>A (p.Trp893Arg) c.2623T>A (p.Trp875Arg) c.2596T>A (p.Trp866Arg) c.2581T>A (p.Trp861Arg) c.2188T>A (p.Trp730Arg) c.2650T>A (p.Trp884Arg) c.2587T>A (p.Trp863Arg) c.2584T>A (p.Trp862Arg) c.2542T>A (p.Trp848Arg) c.1615T>A (p.Trp539Arg) | |
| 20 | g.63406665G>A | CA511339177 | KCNQ2 | c.2652C>T (p.Gly884=) c.2598C>T (p.Gly866=) c.1995C>T (p.Gly665=) c.2505C>T (p.Gly835=) c.2166C>T (p.Gly722=) c.2514C>T (p.Gly838=) c.2241+381C>T (n.2241+381C>T) c.2205+381C>T (n.2205+381C>T) c.2544C>T (p.Gly848=) c.2133+381C>T (n.2133+381C>T) c.1680-5822C>T (n.1680-5822C>T) c.2640C>T (p.Gly880=) c.2706C>T (p.Gly902=) c.2703C>T (p.Gly901=) c.2676C>T (p.Gly892=) c.2622C>T (p.Gly874=) c.2595C>T (p.Gly865=) c.2580C>T (p.Gly860=) c.2187C>T (p.Gly729=) c.2649C>T (p.Gly883=) c.2586C>T (p.Gly862=) c.2583C>T (p.Gly861=) c.2541C>T (p.Gly847=) c.1614C>T (p.Gly538=) | dbSNP gnomAD v4 |
| 20 | g.63406665G>C | CA511339176 | KCNQ2 | c.2652C>G (p.Gly884=) c.2598C>G (p.Gly866=) c.1995C>G (p.Gly665=) c.2505C>G (p.Gly835=) c.2166C>G (p.Gly722=) c.2514C>G (p.Gly838=) c.2241+381C>G (n.2241+381C>G) c.2205+381C>G (n.2205+381C>G) c.2544C>G (p.Gly848=) c.2133+381C>G (n.2133+381C>G) c.1680-5822C>G (n.1680-5822C>G) c.2640C>G (p.Gly880=) c.2706C>G (p.Gly902=) c.2703C>G (p.Gly901=) c.2676C>G (p.Gly892=) c.2622C>G (p.Gly874=) c.2595C>G (p.Gly865=) c.2580C>G (p.Gly860=) c.2187C>G (p.Gly729=) c.2649C>G (p.Gly883=) c.2586C>G (p.Gly862=) c.2583C>G (p.Gly861=) c.2541C>G (p.Gly847=) c.1614C>G (p.Gly538=) | |
| 20 | g.63406665G>T | CA511339175 | KCNQ2 | c.2652C>A (p.Gly884=) c.2598C>A (p.Gly866=) c.1995C>A (p.Gly665=) c.2505C>A (p.Gly835=) c.2166C>A (p.Gly722=) c.2514C>A (p.Gly838=) c.2241+381C>A (n.2241+381C>A) c.2205+381C>A (n.2205+381C>A) c.2544C>A (p.Gly848=) c.2133+381C>A (n.2133+381C>A) c.1680-5822C>A (n.1680-5822C>A) c.2640C>A (p.Gly880=) c.2706C>A (p.Gly902=) c.2703C>A (p.Gly901=) c.2676C>A (p.Gly892=) c.2622C>A (p.Gly874=) c.2595C>A (p.Gly865=) c.2580C>A (p.Gly860=) c.2187C>A (p.Gly729=) c.2649C>A (p.Gly883=) c.2586C>A (p.Gly862=) c.2583C>A (p.Gly861=) c.2541C>A (p.Gly847=) c.1614C>A (p.Gly538=) | gnomAD v4 |
| 20 | g.63406665_63406666delinsGC | CA2374774183 | KCNQ2 | c.2651_2652delinsGC (p.Gly884=) c.2597_2598delinsGC (p.Gly866=) c.1994_1995delinsGC (p.Gly665=) c.2504_2505delinsGC (p.Gly835=) c.2165_2166delinsGC (p.Gly722=) c.2513_2514delinsGC (p.Gly838=) c.2241+380_2241+381delinsGC (n.2241+380_2241+381delinsGC) c.2205+380_2205+381delinsGC (n.2205+380_2205+381delinsGC) c.2543_2544delinsGC (p.Gly848=) c.2133+380_2133+381delinsGC (n.2133+380_2133+381delinsGC) c.1680-5823_1680-5822delinsGC (n.1680-5823_1680-5822delinsGC) c.2639_2640delinsGC (p.Gly880=) c.2705_2706delinsGC (p.Gly902=) c.2702_2703delinsGC (p.Gly901=) c.2675_2676delinsGC (p.Gly892=) c.2621_2622delinsGC (p.Gly874=) c.2594_2595delinsGC (p.Gly865=) c.2579_2580delinsGC (p.Gly860=) c.2186_2187delinsGC (p.Gly729=) c.2648_2649delinsGC (p.Gly883=) c.2585_2586delinsGC (p.Gly862=) c.2582_2583delinsGC (p.Gly861=) c.2540_2541delinsGC (p.Gly847=) c.1613_1614delinsGC (p.Gly538=) | |
| 20 | g.63406666C>A | CA409636395 | KCNQ2 | c.2651G>T (p.Gly884Val) c.2597G>T (p.Gly866Val) c.1994G>T (p.Gly665Val) c.2504G>T (p.Gly835Val) c.2165G>T (p.Gly722Val) c.2513G>T (p.Gly838Val) c.2241+380G>T (n.2241+380G>T) c.2205+380G>T (n.2205+380G>T) c.2543G>T (p.Gly848Val) c.2133+380G>T (n.2133+380G>T) c.1680-5823G>T (n.1680-5823G>T) c.2639G>T (p.Gly880Val) c.2705G>T (p.Gly902Val) c.2702G>T (p.Gly901Val) c.2675G>T (p.Gly892Val) c.2621G>T (p.Gly874Val) c.2594G>T (p.Gly865Val) c.2579G>T (p.Gly860Val) c.2186G>T (p.Gly729Val) c.2648G>T (p.Gly883Val) c.2585G>T (p.Gly862Val) c.2582G>T (p.Gly861Val) c.2540G>T (p.Gly847Val) c.1613G>T (p.Gly538Val) | gnomAD v4 |
| 20 | g.63406666C>G | CA409636396 | KCNQ2 | c.2651G>C (p.Gly884Ala) c.2597G>C (p.Gly866Ala) c.1994G>C (p.Gly665Ala) c.2504G>C (p.Gly835Ala) c.2165G>C (p.Gly722Ala) c.2513G>C (p.Gly838Ala) c.2241+380G>C (n.2241+380G>C) c.2205+380G>C (n.2205+380G>C) c.2543G>C (p.Gly848Ala) c.2133+380G>C (n.2133+380G>C) c.1680-5823G>C (n.1680-5823G>C) c.2639G>C (p.Gly880Ala) c.2705G>C (p.Gly902Ala) c.2702G>C (p.Gly901Ala) c.2675G>C (p.Gly892Ala) c.2621G>C (p.Gly874Ala) c.2594G>C (p.Gly865Ala) c.2579G>C (p.Gly860Ala) c.2186G>C (p.Gly729Ala) c.2648G>C (p.Gly883Ala) c.2585G>C (p.Gly862Ala) c.2582G>C (p.Gly861Ala) c.2540G>C (p.Gly847Ala) c.1613G>C (p.Gly538Ala) | |
| 20 | g.63406666C>T | CA409636398 | KCNQ2 | c.2651G>A (p.Gly884Asp) c.2597G>A (p.Gly866Asp) c.1994G>A (p.Gly665Asp) c.2504G>A (p.Gly835Asp) c.2165G>A (p.Gly722Asp) c.2513G>A (p.Gly838Asp) c.2241+380G>A (n.2241+380G>A) c.2205+380G>A (n.2205+380G>A) c.2543G>A (p.Gly848Asp) c.2133+380G>A (n.2133+380G>A) c.1680-5823G>A (n.1680-5823G>A) c.2639G>A (p.Gly880Asp) c.2705G>A (p.Gly902Asp) c.2702G>A (p.Gly901Asp) c.2675G>A (p.Gly892Asp) c.2621G>A (p.Gly874Asp) c.2594G>A (p.Gly865Asp) c.2579G>A (p.Gly860Asp) c.2186G>A (p.Gly729Asp) c.2648G>A (p.Gly883Asp) c.2585G>A (p.Gly862Asp) c.2582G>A (p.Gly861Asp) c.2540G>A (p.Gly847Asp) c.1613G>A (p.Gly538Asp) | gnomAD v4 |
| 20 | g.63406668del | CA342495 | KCNQ2 | c.2651del (p.Gly884AlafsTer?) c.2597del (p.Gly866AlafsTer?) c.1994del (p.Gly665AlafsTer?) c.2504del (p.Gly835AlafsTer?) c.2165del (p.Gly722AlafsTer?) c.2513del (p.Gly838AlafsTer?) c.2241+380del (n.2241+380del) c.2205+380del (n.2205+380del) c.2543del (p.Gly848AlafsTer?) c.2133+380del (n.2133+380del) c.1680-5823del (n.1680-5823del) c.2639del (p.Gly880AlafsTer?) c.2705del (p.Gly902AlafsTer?) c.2702del (p.Gly901AlafsTer?) c.2675del (p.Gly892AlafsTer?) c.2621del (p.Gly874AlafsTer?) c.2594del (p.Gly865AlafsTer?) c.2579del (p.Gly860AlafsTer?) c.2186del (p.Gly729AlafsTer?) c.2648del (p.Gly883AlafsTer?) c.2585del (p.Gly862AlafsTer?) c.2582del (p.Gly861AlafsTer?) c.2540del (p.Gly847AlafsTer?) c.1613del (p.Gly538AlafsTer?) | ClinVar dbSNP |
| 20 | g.63406667C>A | CA409636401 | KCNQ2 | c.2650G>T (p.Gly884Cys) c.2596G>T (p.Gly866Cys) c.1993G>T (p.Gly665Cys) c.2503G>T (p.Gly835Cys) c.2164G>T (p.Gly722Cys) c.2512G>T (p.Gly838Cys) c.2241+379G>T (n.2241+379G>T) c.2205+379G>T (n.2205+379G>T) c.2542G>T (p.Gly848Cys) c.2133+379G>T (n.2133+379G>T) c.1680-5824G>T (n.1680-5824G>T) c.2638G>T (p.Gly880Cys) c.2704G>T (p.Gly902Cys) c.2701G>T (p.Gly901Cys) c.2674G>T (p.Gly892Cys) c.2620G>T (p.Gly874Cys) c.2593G>T (p.Gly865Cys) c.2578G>T (p.Gly860Cys) c.2185G>T (p.Gly729Cys) c.2647G>T (p.Gly883Cys) c.2584G>T (p.Gly862Cys) c.2581G>T (p.Gly861Cys) c.2539G>T (p.Gly847Cys) c.1612G>T (p.Gly538Cys) | gnomAD v4 |
| 20 | g.63406667C>G | CA409636403 | KCNQ2 | c.2650G>C (p.Gly884Arg) c.2596G>C (p.Gly866Arg) c.1993G>C (p.Gly665Arg) c.2503G>C (p.Gly835Arg) c.2164G>C (p.Gly722Arg) c.2512G>C (p.Gly838Arg) c.2241+379G>C (n.2241+379G>C) c.2205+379G>C (n.2205+379G>C) c.2542G>C (p.Gly848Arg) c.2133+379G>C (n.2133+379G>C) c.1680-5824G>C (n.1680-5824G>C) c.2638G>C (p.Gly880Arg) c.2704G>C (p.Gly902Arg) c.2701G>C (p.Gly901Arg) c.2674G>C (p.Gly892Arg) c.2620G>C (p.Gly874Arg) c.2593G>C (p.Gly865Arg) c.2578G>C (p.Gly860Arg) c.2185G>C (p.Gly729Arg) c.2647G>C (p.Gly883Arg) c.2584G>C (p.Gly862Arg) c.2581G>C (p.Gly861Arg) c.2539G>C (p.Gly847Arg) c.1612G>C (p.Gly538Arg) | |
| 20 | g.63406667C>T | CA409636405 | KCNQ2 | c.2650G>A (p.Gly884Ser) c.2596G>A (p.Gly866Ser) c.1993G>A (p.Gly665Ser) c.2503G>A (p.Gly835Ser) c.2164G>A (p.Gly722Ser) c.2512G>A (p.Gly838Ser) c.2241+379G>A (n.2241+379G>A) c.2205+379G>A (n.2205+379G>A) c.2542G>A (p.Gly848Ser) c.2133+379G>A (n.2133+379G>A) c.1680-5824G>A (n.1680-5824G>A) c.2638G>A (p.Gly880Ser) c.2704G>A (p.Gly902Ser) c.2701G>A (p.Gly901Ser) c.2674G>A (p.Gly892Ser) c.2620G>A (p.Gly874Ser) c.2593G>A (p.Gly865Ser) c.2578G>A (p.Gly860Ser) c.2185G>A (p.Gly729Ser) c.2647G>A (p.Gly883Ser) c.2584G>A (p.Gly862Ser) c.2581G>A (p.Gly861Ser) c.2539G>A (p.Gly847Ser) c.1612G>A (p.Gly538Ser) | gnomAD v4 |
| 20 | g.63406668C>A | CA511339178 | KCNQ2 | c.2649G>T (p.Val883=) c.2595G>T (p.Val865=) c.1992G>T (p.Val664=) c.2502G>T (p.Val834=) c.2163G>T (p.Val721=) c.2511G>T (p.Val837=) c.2241+378G>T (n.2241+378G>T) c.2205+378G>T (n.2205+378G>T) c.2541G>T (p.Val847=) c.2133+378G>T (n.2133+378G>T) c.1680-5825G>T (n.1680-5825G>T) c.2637G>T (p.Val879=) c.2703G>T (p.Val901=) c.2700G>T (p.Val900=) c.2673G>T (p.Val891=) c.2619G>T (p.Val873=) c.2592G>T (p.Val864=) c.2577G>T (p.Val859=) c.2184G>T (p.Val728=) c.2646G>T (p.Val882=) c.2583G>T (p.Val861=) c.2580G>T (p.Val860=) c.2538G>T (p.Val846=) c.1611G>T (p.Val537=) | gnomAD v4 |
| 20 | g.63406668C>G | CA511339179 | KCNQ2 | c.2649G>C (p.Val883=) c.2595G>C (p.Val865=) c.1992G>C (p.Val664=) c.2502G>C (p.Val834=) c.2163G>C (p.Val721=) c.2511G>C (p.Val837=) c.2241+378G>C (n.2241+378G>C) c.2205+378G>C (n.2205+378G>C) c.2541G>C (p.Val847=) c.2133+378G>C (n.2133+378G>C) c.1680-5825G>C (n.1680-5825G>C) c.2637G>C (p.Val879=) c.2703G>C (p.Val901=) c.2700G>C (p.Val900=) c.2673G>C (p.Val891=) c.2619G>C (p.Val873=) c.2592G>C (p.Val864=) c.2577G>C (p.Val859=) c.2184G>C (p.Val728=) c.2646G>C (p.Val882=) c.2583G>C (p.Val861=) c.2580G>C (p.Val860=) c.2538G>C (p.Val846=) c.1611G>C (p.Val537=) | |
| 20 | g.63406668C>T | CA511339180 | KCNQ2 | c.2649G>A (p.Val883=) c.2595G>A (p.Val865=) c.1992G>A (p.Val664=) c.2502G>A (p.Val834=) c.2163G>A (p.Val721=) c.2511G>A (p.Val837=) c.2241+378G>A (n.2241+378G>A) c.2205+378G>A (n.2205+378G>A) c.2541G>A (p.Val847=) c.2133+378G>A (n.2133+378G>A) c.1680-5825G>A (n.1680-5825G>A) c.2637G>A (p.Val879=) c.2703G>A (p.Val901=) c.2700G>A (p.Val900=) c.2673G>A (p.Val891=) c.2619G>A (p.Val873=) c.2592G>A (p.Val864=) c.2577G>A (p.Val859=) c.2184G>A (p.Val728=) c.2646G>A (p.Val882=) c.2583G>A (p.Val861=) c.2580G>A (p.Val860=) c.2538G>A (p.Val846=) c.1611G>A (p.Val537=) | |
| 20 | g.63406669A= | CA2374774184 | KCNQ2 | c.2648T= (p.Val883=) c.2594T= (p.Val865=) c.1991T= (p.Val664=) c.2501T= (p.Val834=) c.2162T= (p.Val721=) c.2510T= (p.Val837=) c.2241+377T= (n.2241+377T=) c.2205+377T= (n.2205+377T=) c.2540T= (p.Val847=) c.2133+377T= (n.2133+377T=) c.1680-5826T= (n.1680-5826T=) c.2636T= (p.Val879=) c.2702T= (p.Val901=) c.2699T= (p.Val900=) c.2672T= (p.Val891=) c.2618T= (p.Val873=) c.2591T= (p.Val864=) c.2576T= (p.Val859=) c.2183T= (p.Val728=) c.2645T= (p.Val882=) c.2582T= (p.Val861=) c.2579T= (p.Val860=) c.2537T= (p.Val846=) c.1610T= (p.Val537=) | |
| 20 | g.63406669A>C | CA9958053 | KCNQ2 | c.2648T>G (p.Val883Gly) c.2594T>G (p.Val865Gly) c.1991T>G (p.Val664Gly) c.2501T>G (p.Val834Gly) c.2162T>G (p.Val721Gly) c.2510T>G (p.Val837Gly) c.2241+377T>G (n.2241+377T>G) c.2205+377T>G (n.2205+377T>G) c.2540T>G (p.Val847Gly) c.2133+377T>G (n.2133+377T>G) c.1680-5826T>G (n.1680-5826T>G) c.2636T>G (p.Val879Gly) c.2702T>G (p.Val901Gly) c.2699T>G (p.Val900Gly) c.2672T>G (p.Val891Gly) c.2618T>G (p.Val873Gly) c.2591T>G (p.Val864Gly) c.2576T>G (p.Val859Gly) c.2183T>G (p.Val728Gly) c.2645T>G (p.Val882Gly) c.2582T>G (p.Val861Gly) c.2579T>G (p.Val860Gly) c.2537T>G (p.Val846Gly) c.1610T>G (p.Val537Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63406669A>G | CA409636407 | KCNQ2 | c.2648T>C (p.Val883Ala) c.2594T>C (p.Val865Ala) c.1991T>C (p.Val664Ala) c.2501T>C (p.Val834Ala) c.2162T>C (p.Val721Ala) c.2510T>C (p.Val837Ala) c.2241+377T>C (n.2241+377T>C) c.2205+377T>C (n.2205+377T>C) c.2540T>C (p.Val847Ala) c.2133+377T>C (n.2133+377T>C) c.1680-5826T>C (n.1680-5826T>C) c.2636T>C (p.Val879Ala) c.2702T>C (p.Val901Ala) c.2699T>C (p.Val900Ala) c.2672T>C (p.Val891Ala) c.2618T>C (p.Val873Ala) c.2591T>C (p.Val864Ala) c.2576T>C (p.Val859Ala) c.2183T>C (p.Val728Ala) c.2645T>C (p.Val882Ala) c.2582T>C (p.Val861Ala) c.2579T>C (p.Val860Ala) c.2537T>C (p.Val846Ala) c.1610T>C (p.Val537Ala) | |
| 20 | g.63406669A>T | CA409636408 | KCNQ2 | c.2648T>A (p.Val883Glu) c.2594T>A (p.Val865Glu) c.1991T>A (p.Val664Glu) c.2501T>A (p.Val834Glu) c.2162T>A (p.Val721Glu) c.2510T>A (p.Val837Glu) c.2241+377T>A (n.2241+377T>A) c.2205+377T>A (n.2205+377T>A) c.2540T>A (p.Val847Glu) c.2133+377T>A (n.2133+377T>A) c.1680-5826T>A (n.1680-5826T>A) c.2636T>A (p.Val879Glu) c.2702T>A (p.Val901Glu) c.2699T>A (p.Val900Glu) c.2672T>A (p.Val891Glu) c.2618T>A (p.Val873Glu) c.2591T>A (p.Val864Glu) c.2576T>A (p.Val859Glu) c.2183T>A (p.Val728Glu) c.2645T>A (p.Val882Glu) c.2582T>A (p.Val861Glu) c.2579T>A (p.Val860Glu) c.2537T>A (p.Val846Glu) c.1610T>A (p.Val537Glu) | |
| 20 | g.63406670C>A | CA409636413 | KCNQ2 | c.2647G>T (p.Val883Leu) c.2593G>T (p.Val865Leu) c.1990G>T (p.Val664Leu) c.2500G>T (p.Val834Leu) c.2161G>T (p.Val721Leu) c.2509G>T (p.Val837Leu) c.2241+376G>T (n.2241+376G>T) c.2205+376G>T (n.2205+376G>T) c.2539G>T (p.Val847Leu) c.2133+376G>T (n.2133+376G>T) c.1680-5827G>T (n.1680-5827G>T) c.2635G>T (p.Val879Leu) c.2701G>T (p.Val901Leu) c.2698G>T (p.Val900Leu) c.2671G>T (p.Val891Leu) c.2617G>T (p.Val873Leu) c.2590G>T (p.Val864Leu) c.2575G>T (p.Val859Leu) c.2182G>T (p.Val728Leu) c.2644G>T (p.Val882Leu) c.2581G>T (p.Val861Leu) c.2578G>T (p.Val860Leu) c.2536G>T (p.Val846Leu) c.1609G>T (p.Val537Leu) | |
| 20 | g.63406670C= | CA2374774185 | KCNQ2 | c.2647G= (p.Val883=) c.2593G= (p.Val865=) c.1990G= (p.Val664=) c.2500G= (p.Val834=) c.2161G= (p.Val721=) c.2509G= (p.Val837=) c.2241+376G= (n.2241+376G=) c.2205+376G= (n.2205+376G=) c.2539G= (p.Val847=) c.2133+376G= (n.2133+376G=) c.1680-5827G= (n.1680-5827G=) c.2635G= (p.Val879=) c.2701G= (p.Val901=) c.2698G= (p.Val900=) c.2671G= (p.Val891=) c.2617G= (p.Val873=) c.2590G= (p.Val864=) c.2575G= (p.Val859=) c.2182G= (p.Val728=) c.2644G= (p.Val882=) c.2581G= (p.Val861=) c.2578G= (p.Val860=) c.2536G= (p.Val846=) c.1609G= (p.Val537=) | |
| 20 | g.63406670C>G | CA409636410 | KCNQ2 | c.2647G>C (p.Val883Leu) c.2593G>C (p.Val865Leu) c.1990G>C (p.Val664Leu) c.2500G>C (p.Val834Leu) c.2161G>C (p.Val721Leu) c.2509G>C (p.Val837Leu) c.2241+376G>C (n.2241+376G>C) c.2205+376G>C (n.2205+376G>C) c.2539G>C (p.Val847Leu) c.2133+376G>C (n.2133+376G>C) c.1680-5827G>C (n.1680-5827G>C) c.2635G>C (p.Val879Leu) c.2701G>C (p.Val901Leu) c.2698G>C (p.Val900Leu) c.2671G>C (p.Val891Leu) c.2617G>C (p.Val873Leu) c.2590G>C (p.Val864Leu) c.2575G>C (p.Val859Leu) c.2182G>C (p.Val728Leu) c.2644G>C (p.Val882Leu) c.2581G>C (p.Val861Leu) c.2578G>C (p.Val860Leu) c.2536G>C (p.Val846Leu) c.1609G>C (p.Val537Leu) | dbSNP gnomAD v4 |
| 20 | g.63406670C>T | CA317421518 | KCNQ2 | c.2647G>A (p.Val883Met) c.2593G>A (p.Val865Met) c.1990G>A (p.Val664Met) c.2500G>A (p.Val834Met) c.2161G>A (p.Val721Met) c.2509G>A (p.Val837Met) c.2241+376G>A (n.2241+376G>A) c.2205+376G>A (n.2205+376G>A) c.2539G>A (p.Val847Met) c.2133+376G>A (n.2133+376G>A) c.1680-5827G>A (n.1680-5827G>A) c.2635G>A (p.Val879Met) c.2701G>A (p.Val901Met) c.2698G>A (p.Val900Met) c.2671G>A (p.Val891Met) c.2617G>A (p.Val873Met) c.2590G>A (p.Val864Met) c.2575G>A (p.Val859Met) c.2182G>A (p.Val728Met) c.2644G>A (p.Val882Met) c.2581G>A (p.Val861Met) c.2578G>A (p.Val860Met) c.2536G>A (p.Val846Met) c.1609G>A (p.Val537Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.63406671G>A | CA9958054 | KCNQ2 | c.2646C>T (p.Asp882=) c.2592C>T (p.Asp864=) c.1989C>T (p.Asp663=) c.2499C>T (p.Asp833=) c.2160C>T (p.Asp720=) c.2508C>T (p.Asp836=) c.2241+375C>T (n.2241+375C>T) c.2205+375C>T (n.2205+375C>T) c.2538C>T (p.Asp846=) c.2133+375C>T (n.2133+375C>T) c.1680-5828C>T (n.1680-5828C>T) c.2634C>T (p.Asp878=) c.2700C>T (p.Asp900=) c.2697C>T (p.Asp899=) c.2670C>T (p.Asp890=) c.2616C>T (p.Asp872=) c.2589C>T (p.Asp863=) c.2574C>T (p.Asp858=) c.2181C>T (p.Asp727=) c.2643C>T (p.Asp881=) c.2580C>T (p.Asp860=) c.2577C>T (p.Asp859=) c.2535C>T (p.Asp845=) c.1608C>T (p.Asp536=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63406671G>C | CA409636417 | KCNQ2 | c.2646C>G (p.Asp882Glu) c.2592C>G (p.Asp864Glu) c.1989C>G (p.Asp663Glu) c.2499C>G (p.Asp833Glu) c.2160C>G (p.Asp720Glu) c.2508C>G (p.Asp836Glu) c.2241+375C>G (n.2241+375C>G) c.2205+375C>G (n.2205+375C>G) c.2538C>G (p.Asp846Glu) c.2133+375C>G (n.2133+375C>G) c.1680-5828C>G (n.1680-5828C>G) c.2634C>G (p.Asp878Glu) c.2700C>G (p.Asp900Glu) c.2697C>G (p.Asp899Glu) c.2670C>G (p.Asp890Glu) c.2616C>G (p.Asp872Glu) c.2589C>G (p.Asp863Glu) c.2574C>G (p.Asp858Glu) c.2181C>G (p.Asp727Glu) c.2643C>G (p.Asp881Glu) c.2580C>G (p.Asp860Glu) c.2577C>G (p.Asp859Glu) c.2535C>G (p.Asp845Glu) c.1608C>G (p.Asp536Glu) | |
| 20 | g.63406671G= | CA2374774186 | KCNQ2 | c.2646C= (p.Asp882=) c.2592C= (p.Asp864=) c.1989C= (p.Asp663=) c.2499C= (p.Asp833=) c.2160C= (p.Asp720=) c.2508C= (p.Asp836=) c.2241+375C= (n.2241+375C=) c.2205+375C= (n.2205+375C=) c.2538C= (p.Asp846=) c.2133+375C= (n.2133+375C=) c.1680-5828C= (n.1680-5828C=) c.2634C= (p.Asp878=) c.2700C= (p.Asp900=) c.2697C= (p.Asp899=) c.2670C= (p.Asp890=) c.2616C= (p.Asp872=) c.2589C= (p.Asp863=) c.2574C= (p.Asp858=) c.2181C= (p.Asp727=) c.2643C= (p.Asp881=) c.2580C= (p.Asp860=) c.2577C= (p.Asp859=) c.2535C= (p.Asp845=) c.1608C= (p.Asp536=) | |
| 20 | g.63406671G>T | CA409636415 | KCNQ2 | c.2646C>A (p.Asp882Glu) c.2592C>A (p.Asp864Glu) c.1989C>A (p.Asp663Glu) c.2499C>A (p.Asp833Glu) c.2160C>A (p.Asp720Glu) c.2508C>A (p.Asp836Glu) c.2241+375C>A (n.2241+375C>A) c.2205+375C>A (n.2205+375C>A) c.2538C>A (p.Asp846Glu) c.2133+375C>A (n.2133+375C>A) c.1680-5828C>A (n.1680-5828C>A) c.2634C>A (p.Asp878Glu) c.2700C>A (p.Asp900Glu) c.2697C>A (p.Asp899Glu) c.2670C>A (p.Asp890Glu) c.2616C>A (p.Asp872Glu) c.2589C>A (p.Asp863Glu) c.2574C>A (p.Asp858Glu) c.2181C>A (p.Asp727Glu) c.2643C>A (p.Asp881Glu) c.2580C>A (p.Asp860Glu) c.2577C>A (p.Asp859Glu) c.2535C>A (p.Asp845Glu) c.1608C>A (p.Asp536Glu) | gnomAD v4 |
| 20 | g.63406672T>A | CA409636419 | KCNQ2 | c.2645A>T (p.Asp882Val) c.2591A>T (p.Asp864Val) c.1988A>T (p.Asp663Val) c.2498A>T (p.Asp833Val) c.2159A>T (p.Asp720Val) c.2507A>T (p.Asp836Val) c.2241+374A>T (n.2241+374A>T) c.2205+374A>T (n.2205+374A>T) c.2537A>T (p.Asp846Val) c.2133+374A>T (n.2133+374A>T) c.1680-5829A>T (n.1680-5829A>T) c.2633A>T (p.Asp878Val) c.2699A>T (p.Asp900Val) c.2696A>T (p.Asp899Val) c.2669A>T (p.Asp890Val) c.2615A>T (p.Asp872Val) c.2588A>T (p.Asp863Val) c.2573A>T (p.Asp858Val) c.2180A>T (p.Asp727Val) c.2642A>T (p.Asp881Val) c.2579A>T (p.Asp860Val) c.2576A>T (p.Asp859Val) c.2534A>T (p.Asp845Val) c.1607A>T (p.Asp536Val) | |
| 20 | g.63406672T>C | CA409636421 | KCNQ2 | c.2645A>G (p.Asp882Gly) c.2591A>G (p.Asp864Gly) c.1988A>G (p.Asp663Gly) c.2498A>G (p.Asp833Gly) c.2159A>G (p.Asp720Gly) c.2507A>G (p.Asp836Gly) c.2241+374A>G (n.2241+374A>G) c.2205+374A>G (n.2205+374A>G) c.2537A>G (p.Asp846Gly) c.2133+374A>G (n.2133+374A>G) c.1680-5829A>G (n.1680-5829A>G) c.2633A>G (p.Asp878Gly) c.2699A>G (p.Asp900Gly) c.2696A>G (p.Asp899Gly) c.2669A>G (p.Asp890Gly) c.2615A>G (p.Asp872Gly) c.2588A>G (p.Asp863Gly) c.2573A>G (p.Asp858Gly) c.2180A>G (p.Asp727Gly) c.2642A>G (p.Asp881Gly) c.2579A>G (p.Asp860Gly) c.2576A>G (p.Asp859Gly) c.2534A>G (p.Asp845Gly) c.1607A>G (p.Asp536Gly) | |
| 20 | g.63406672T>G | CA409636423 | KCNQ2 | c.2645A>C (p.Asp882Ala) c.2591A>C (p.Asp864Ala) c.1988A>C (p.Asp663Ala) c.2498A>C (p.Asp833Ala) c.2159A>C (p.Asp720Ala) c.2507A>C (p.Asp836Ala) c.2241+374A>C (n.2241+374A>C) c.2205+374A>C (n.2205+374A>C) c.2537A>C (p.Asp846Ala) c.2133+374A>C (n.2133+374A>C) c.1680-5829A>C (n.1680-5829A>C) c.2633A>C (p.Asp878Ala) c.2699A>C (p.Asp900Ala) c.2696A>C (p.Asp899Ala) c.2669A>C (p.Asp890Ala) c.2615A>C (p.Asp872Ala) c.2588A>C (p.Asp863Ala) c.2573A>C (p.Asp858Ala) c.2180A>C (p.Asp727Ala) c.2642A>C (p.Asp881Ala) c.2579A>C (p.Asp860Ala) c.2576A>C (p.Asp859Ala) c.2534A>C (p.Asp845Ala) c.1607A>C (p.Asp536Ala) | |
| 20 | g.63406673C>A | CA409636425 | KCNQ2 | c.2644G>T (p.Asp882Tyr) c.2590G>T (p.Asp864Tyr) c.1987G>T (p.Asp663Tyr) c.2497G>T (p.Asp833Tyr) c.2158G>T (p.Asp720Tyr) c.2506G>T (p.Asp836Tyr) c.2241+373G>T (n.2241+373G>T) c.2205+373G>T (n.2205+373G>T) c.2536G>T (p.Asp846Tyr) c.2133+373G>T (n.2133+373G>T) c.1680-5830G>T (n.1680-5830G>T) c.2632G>T (p.Asp878Tyr) c.2698G>T (p.Asp900Tyr) c.2695G>T (p.Asp899Tyr) c.2668G>T (p.Asp890Tyr) c.2614G>T (p.Asp872Tyr) c.2587G>T (p.Asp863Tyr) c.2572G>T (p.Asp858Tyr) c.2179G>T (p.Asp727Tyr) c.2641G>T (p.Asp881Tyr) c.2578G>T (p.Asp860Tyr) c.2575G>T (p.Asp859Tyr) c.2533G>T (p.Asp845Tyr) c.1606G>T (p.Asp536Tyr) | gnomAD v4 |