UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.63406672T>A | CA409636419 | KCNQ2 | c.2645A>T (p.Asp882Val) c.2591A>T (p.Asp864Val) c.1988A>T (p.Asp663Val) c.2498A>T (p.Asp833Val) c.2159A>T (p.Asp720Val) c.2507A>T (p.Asp836Val) c.2241+374A>T (n.2241+374A>T) c.2205+374A>T (n.2205+374A>T) c.2537A>T (p.Asp846Val) c.2133+374A>T (n.2133+374A>T) c.1680-5829A>T (n.1680-5829A>T) c.2633A>T (p.Asp878Val) c.2699A>T (p.Asp900Val) c.2696A>T (p.Asp899Val) c.2669A>T (p.Asp890Val) c.2615A>T (p.Asp872Val) c.2588A>T (p.Asp863Val) c.2573A>T (p.Asp858Val) c.2180A>T (p.Asp727Val) c.2642A>T (p.Asp881Val) c.2579A>T (p.Asp860Val) c.2576A>T (p.Asp859Val) c.2534A>T (p.Asp845Val) c.1607A>T (p.Asp536Val) | |
| 20 | g.63406672T>C | CA409636421 | KCNQ2 | c.2645A>G (p.Asp882Gly) c.2591A>G (p.Asp864Gly) c.1988A>G (p.Asp663Gly) c.2498A>G (p.Asp833Gly) c.2159A>G (p.Asp720Gly) c.2507A>G (p.Asp836Gly) c.2241+374A>G (n.2241+374A>G) c.2205+374A>G (n.2205+374A>G) c.2537A>G (p.Asp846Gly) c.2133+374A>G (n.2133+374A>G) c.1680-5829A>G (n.1680-5829A>G) c.2633A>G (p.Asp878Gly) c.2699A>G (p.Asp900Gly) c.2696A>G (p.Asp899Gly) c.2669A>G (p.Asp890Gly) c.2615A>G (p.Asp872Gly) c.2588A>G (p.Asp863Gly) c.2573A>G (p.Asp858Gly) c.2180A>G (p.Asp727Gly) c.2642A>G (p.Asp881Gly) c.2579A>G (p.Asp860Gly) c.2576A>G (p.Asp859Gly) c.2534A>G (p.Asp845Gly) c.1607A>G (p.Asp536Gly) | |
| 20 | g.63406672T>G | CA409636423 | KCNQ2 | c.2645A>C (p.Asp882Ala) c.2591A>C (p.Asp864Ala) c.1988A>C (p.Asp663Ala) c.2498A>C (p.Asp833Ala) c.2159A>C (p.Asp720Ala) c.2507A>C (p.Asp836Ala) c.2241+374A>C (n.2241+374A>C) c.2205+374A>C (n.2205+374A>C) c.2537A>C (p.Asp846Ala) c.2133+374A>C (n.2133+374A>C) c.1680-5829A>C (n.1680-5829A>C) c.2633A>C (p.Asp878Ala) c.2699A>C (p.Asp900Ala) c.2696A>C (p.Asp899Ala) c.2669A>C (p.Asp890Ala) c.2615A>C (p.Asp872Ala) c.2588A>C (p.Asp863Ala) c.2573A>C (p.Asp858Ala) c.2180A>C (p.Asp727Ala) c.2642A>C (p.Asp881Ala) c.2579A>C (p.Asp860Ala) c.2576A>C (p.Asp859Ala) c.2534A>C (p.Asp845Ala) c.1607A>C (p.Asp536Ala) | |
| 20 | g.63406673C>A | CA409636425 | KCNQ2 | c.2644G>T (p.Asp882Tyr) c.2590G>T (p.Asp864Tyr) c.1987G>T (p.Asp663Tyr) c.2497G>T (p.Asp833Tyr) c.2158G>T (p.Asp720Tyr) c.2506G>T (p.Asp836Tyr) c.2241+373G>T (n.2241+373G>T) c.2205+373G>T (n.2205+373G>T) c.2536G>T (p.Asp846Tyr) c.2133+373G>T (n.2133+373G>T) c.1680-5830G>T (n.1680-5830G>T) c.2632G>T (p.Asp878Tyr) c.2698G>T (p.Asp900Tyr) c.2695G>T (p.Asp899Tyr) c.2668G>T (p.Asp890Tyr) c.2614G>T (p.Asp872Tyr) c.2587G>T (p.Asp863Tyr) c.2572G>T (p.Asp858Tyr) c.2179G>T (p.Asp727Tyr) c.2641G>T (p.Asp881Tyr) c.2578G>T (p.Asp860Tyr) c.2575G>T (p.Asp859Tyr) c.2533G>T (p.Asp845Tyr) c.1606G>T (p.Asp536Tyr) | gnomAD v4 |
| 20 | g.63406673C>G | CA409636426 | KCNQ2 | c.2644G>C (p.Asp882His) c.2590G>C (p.Asp864His) c.1987G>C (p.Asp663His) c.2497G>C (p.Asp833His) c.2158G>C (p.Asp720His) c.2506G>C (p.Asp836His) c.2241+373G>C (n.2241+373G>C) c.2205+373G>C (n.2205+373G>C) c.2536G>C (p.Asp846His) c.2133+373G>C (n.2133+373G>C) c.1680-5830G>C (n.1680-5830G>C) c.2632G>C (p.Asp878His) c.2698G>C (p.Asp900His) c.2695G>C (p.Asp899His) c.2668G>C (p.Asp890His) c.2614G>C (p.Asp872His) c.2587G>C (p.Asp863His) c.2572G>C (p.Asp858His) c.2179G>C (p.Asp727His) c.2641G>C (p.Asp881His) c.2578G>C (p.Asp860His) c.2575G>C (p.Asp859His) c.2533G>C (p.Asp845His) c.1606G>C (p.Asp536His) | |
| 20 | g.63406673C>T | CA409636428 | KCNQ2 | c.2644G>A (p.Asp882Asn) c.2590G>A (p.Asp864Asn) c.1987G>A (p.Asp663Asn) c.2497G>A (p.Asp833Asn) c.2158G>A (p.Asp720Asn) c.2506G>A (p.Asp836Asn) c.2241+373G>A (n.2241+373G>A) c.2205+373G>A (n.2205+373G>A) c.2536G>A (p.Asp846Asn) c.2133+373G>A (n.2133+373G>A) c.1680-5830G>A (n.1680-5830G>A) c.2632G>A (p.Asp878Asn) c.2698G>A (p.Asp900Asn) c.2695G>A (p.Asp899Asn) c.2668G>A (p.Asp890Asn) c.2614G>A (p.Asp872Asn) c.2587G>A (p.Asp863Asn) c.2572G>A (p.Asp858Asn) c.2179G>A (p.Asp727Asn) c.2641G>A (p.Asp881Asn) c.2578G>A (p.Asp860Asn) c.2575G>A (p.Asp859Asn) c.2533G>A (p.Asp845Asn) c.1606G>A (p.Asp536Asn) | |
| 20 | g.63406674A>C | CA511339181 | KCNQ2 | c.2643T>G (p.Gly881=) c.2589T>G (p.Gly863=) c.1986T>G (p.Gly662=) c.2496T>G (p.Gly832=) c.2157T>G (p.Gly719=) c.2505T>G (p.Gly835=) c.2241+372T>G (n.2241+372T>G) c.2205+372T>G (n.2205+372T>G) c.2535T>G (p.Gly845=) c.2133+372T>G (n.2133+372T>G) c.1680-5831T>G (n.1680-5831T>G) c.2631T>G (p.Gly877=) c.2697T>G (p.Gly899=) c.2694T>G (p.Gly898=) c.2667T>G (p.Gly889=) c.2613T>G (p.Gly871=) c.2586T>G (p.Gly862=) c.2571T>G (p.Gly857=) c.2178T>G (p.Gly726=) c.2640T>G (p.Gly880=) c.2577T>G (p.Gly859=) c.2574T>G (p.Gly858=) c.2532T>G (p.Gly844=) c.1605T>G (p.Gly535=) | |
| 20 | g.63406674A>G | CA511339182 | KCNQ2 | c.2643T>C (p.Gly881=) c.2589T>C (p.Gly863=) c.1986T>C (p.Gly662=) c.2496T>C (p.Gly832=) c.2157T>C (p.Gly719=) c.2505T>C (p.Gly835=) c.2241+372T>C (n.2241+372T>C) c.2205+372T>C (n.2205+372T>C) c.2535T>C (p.Gly845=) c.2133+372T>C (n.2133+372T>C) c.1680-5831T>C (n.1680-5831T>C) c.2631T>C (p.Gly877=) c.2697T>C (p.Gly899=) c.2694T>C (p.Gly898=) c.2667T>C (p.Gly889=) c.2613T>C (p.Gly871=) c.2586T>C (p.Gly862=) c.2571T>C (p.Gly857=) c.2178T>C (p.Gly726=) c.2640T>C (p.Gly880=) c.2577T>C (p.Gly859=) c.2574T>C (p.Gly858=) c.2532T>C (p.Gly844=) c.1605T>C (p.Gly535=) | |
| 20 | g.63406674A>T | CA511339183 | KCNQ2 | c.2643T>A (p.Gly881=) c.2589T>A (p.Gly863=) c.1986T>A (p.Gly662=) c.2496T>A (p.Gly832=) c.2157T>A (p.Gly719=) c.2505T>A (p.Gly835=) c.2241+372T>A (n.2241+372T>A) c.2205+372T>A (n.2205+372T>A) c.2535T>A (p.Gly845=) c.2133+372T>A (n.2133+372T>A) c.1680-5831T>A (n.1680-5831T>A) c.2631T>A (p.Gly877=) c.2697T>A (p.Gly899=) c.2694T>A (p.Gly898=) c.2667T>A (p.Gly889=) c.2613T>A (p.Gly871=) c.2586T>A (p.Gly862=) c.2571T>A (p.Gly857=) c.2178T>A (p.Gly726=) c.2640T>A (p.Gly880=) c.2577T>A (p.Gly859=) c.2574T>A (p.Gly858=) c.2532T>A (p.Gly844=) c.1605T>A (p.Gly535=) | |
| 20 | g.63406675C>A | CA409636430 | KCNQ2 | c.2642G>T (p.Gly881Val) c.2588G>T (p.Gly863Val) c.1985G>T (p.Gly662Val) c.2495G>T (p.Gly832Val) c.2156G>T (p.Gly719Val) c.2504G>T (p.Gly835Val) c.2241+371G>T (n.2241+371G>T) c.2205+371G>T (n.2205+371G>T) c.2534G>T (p.Gly845Val) c.2133+371G>T (n.2133+371G>T) c.1680-5832G>T (n.1680-5832G>T) c.2630G>T (p.Gly877Val) c.2696G>T (p.Gly899Val) c.2693G>T (p.Gly898Val) c.2666G>T (p.Gly889Val) c.2612G>T (p.Gly871Val) c.2585G>T (p.Gly862Val) c.2570G>T (p.Gly857Val) c.2177G>T (p.Gly726Val) c.2639G>T (p.Gly880Val) c.2576G>T (p.Gly859Val) c.2573G>T (p.Gly858Val) c.2531G>T (p.Gly844Val) c.1604G>T (p.Gly535Val) | |
| 20 | g.63406675C>G | CA409636432 | KCNQ2 | c.2642G>C (p.Gly881Ala) c.2588G>C (p.Gly863Ala) c.1985G>C (p.Gly662Ala) c.2495G>C (p.Gly832Ala) c.2156G>C (p.Gly719Ala) c.2504G>C (p.Gly835Ala) c.2241+371G>C (n.2241+371G>C) c.2205+371G>C (n.2205+371G>C) c.2534G>C (p.Gly845Ala) c.2133+371G>C (n.2133+371G>C) c.1680-5832G>C (n.1680-5832G>C) c.2630G>C (p.Gly877Ala) c.2696G>C (p.Gly899Ala) c.2693G>C (p.Gly898Ala) c.2666G>C (p.Gly889Ala) c.2612G>C (p.Gly871Ala) c.2585G>C (p.Gly862Ala) c.2570G>C (p.Gly857Ala) c.2177G>C (p.Gly726Ala) c.2639G>C (p.Gly880Ala) c.2576G>C (p.Gly859Ala) c.2573G>C (p.Gly858Ala) c.2531G>C (p.Gly844Ala) c.1604G>C (p.Gly535Ala) | |
| 20 | g.63406675C>T | CA409636434 | KCNQ2 | c.2642G>A (p.Gly881Asp) c.2588G>A (p.Gly863Asp) c.1985G>A (p.Gly662Asp) c.2495G>A (p.Gly832Asp) c.2156G>A (p.Gly719Asp) c.2504G>A (p.Gly835Asp) c.2241+371G>A (n.2241+371G>A) c.2205+371G>A (n.2205+371G>A) c.2534G>A (p.Gly845Asp) c.2133+371G>A (n.2133+371G>A) c.1680-5832G>A (n.1680-5832G>A) c.2630G>A (p.Gly877Asp) c.2696G>A (p.Gly899Asp) c.2693G>A (p.Gly898Asp) c.2666G>A (p.Gly889Asp) c.2612G>A (p.Gly871Asp) c.2585G>A (p.Gly862Asp) c.2570G>A (p.Gly857Asp) c.2177G>A (p.Gly726Asp) c.2639G>A (p.Gly880Asp) c.2576G>A (p.Gly859Asp) c.2573G>A (p.Gly858Asp) c.2531G>A (p.Gly844Asp) c.1604G>A (p.Gly535Asp) | |
| 20 | g.63406676C>A | CA409636436 | KCNQ2 | c.2641G>T (p.Gly881Cys) c.2587G>T (p.Gly863Cys) c.1984G>T (p.Gly662Cys) c.2494G>T (p.Gly832Cys) c.2155G>T (p.Gly719Cys) c.2503G>T (p.Gly835Cys) c.2241+370G>T (n.2241+370G>T) c.2205+370G>T (n.2205+370G>T) c.2533G>T (p.Gly845Cys) c.2133+370G>T (n.2133+370G>T) c.1680-5833G>T (n.1680-5833G>T) c.2629G>T (p.Gly877Cys) c.2695G>T (p.Gly899Cys) c.2692G>T (p.Gly898Cys) c.2665G>T (p.Gly889Cys) c.2611G>T (p.Gly871Cys) c.2584G>T (p.Gly862Cys) c.2569G>T (p.Gly857Cys) c.2176G>T (p.Gly726Cys) c.2638G>T (p.Gly880Cys) c.2575G>T (p.Gly859Cys) c.2572G>T (p.Gly858Cys) c.2530G>T (p.Gly844Cys) c.1603G>T (p.Gly535Cys) | gnomAD v4 |
| 20 | g.63406676C>G | CA409636438 | KCNQ2 | c.2641G>C (p.Gly881Arg) c.2587G>C (p.Gly863Arg) c.1984G>C (p.Gly662Arg) c.2494G>C (p.Gly832Arg) c.2155G>C (p.Gly719Arg) c.2503G>C (p.Gly835Arg) c.2241+370G>C (n.2241+370G>C) c.2205+370G>C (n.2205+370G>C) c.2533G>C (p.Gly845Arg) c.2133+370G>C (n.2133+370G>C) c.1680-5833G>C (n.1680-5833G>C) c.2629G>C (p.Gly877Arg) c.2695G>C (p.Gly899Arg) c.2692G>C (p.Gly898Arg) c.2665G>C (p.Gly889Arg) c.2611G>C (p.Gly871Arg) c.2584G>C (p.Gly862Arg) c.2569G>C (p.Gly857Arg) c.2176G>C (p.Gly726Arg) c.2638G>C (p.Gly880Arg) c.2575G>C (p.Gly859Arg) c.2572G>C (p.Gly858Arg) c.2530G>C (p.Gly844Arg) c.1603G>C (p.Gly535Arg) | gnomAD v4 |
| 20 | g.63406676C>T | CA409636440 | KCNQ2 | c.2641G>A (p.Gly881Ser) c.2587G>A (p.Gly863Ser) c.1984G>A (p.Gly662Ser) c.2494G>A (p.Gly832Ser) c.2155G>A (p.Gly719Ser) c.2503G>A (p.Gly835Ser) c.2241+370G>A (n.2241+370G>A) c.2205+370G>A (n.2205+370G>A) c.2533G>A (p.Gly845Ser) c.2133+370G>A (n.2133+370G>A) c.1680-5833G>A (n.1680-5833G>A) c.2629G>A (p.Gly877Ser) c.2695G>A (p.Gly899Ser) c.2692G>A (p.Gly898Ser) c.2665G>A (p.Gly889Ser) c.2611G>A (p.Gly871Ser) c.2584G>A (p.Gly862Ser) c.2569G>A (p.Gly857Ser) c.2176G>A (p.Gly726Ser) c.2638G>A (p.Gly880Ser) c.2575G>A (p.Gly859Ser) c.2572G>A (p.Gly858Ser) c.2530G>A (p.Gly844Ser) c.1603G>A (p.Gly535Ser) | |
| 20 | g.63406677A= | CA2374774187 | KCNQ2 | c.2640T= (p.Phe880=) c.2586T= (p.Phe862=) c.1983T= (p.Phe661=) c.2493T= (p.Phe831=) c.2154T= (p.Phe718=) c.2502T= (p.Phe834=) c.2241+369T= (n.2241+369T=) c.2205+369T= (n.2205+369T=) c.2532T= (p.Phe844=) c.2133+369T= (n.2133+369T=) c.1680-5834T= (n.1680-5834T=) c.2628T= (p.Phe876=) c.2694T= (p.Phe898=) c.2691T= (p.Phe897=) c.2664T= (p.Phe888=) c.2610T= (p.Phe870=) c.2583T= (p.Phe861=) c.2568T= (p.Phe856=) c.2175T= (p.Phe725=) c.2637T= (p.Phe879=) c.2574T= (p.Phe858=) c.2571T= (p.Phe857=) c.2529T= (p.Phe843=) c.1602T= (p.Phe534=) | |
| 20 | g.63406677A>C | CA409636444 | KCNQ2 | c.2640T>G (p.Phe880Leu) c.2586T>G (p.Phe862Leu) c.1983T>G (p.Phe661Leu) c.2493T>G (p.Phe831Leu) c.2154T>G (p.Phe718Leu) c.2502T>G (p.Phe834Leu) c.2241+369T>G (n.2241+369T>G) c.2205+369T>G (n.2205+369T>G) c.2532T>G (p.Phe844Leu) c.2133+369T>G (n.2133+369T>G) c.1680-5834T>G (n.1680-5834T>G) c.2628T>G (p.Phe876Leu) c.2694T>G (p.Phe898Leu) c.2691T>G (p.Phe897Leu) c.2664T>G (p.Phe888Leu) c.2610T>G (p.Phe870Leu) c.2583T>G (p.Phe861Leu) c.2568T>G (p.Phe856Leu) c.2175T>G (p.Phe725Leu) c.2637T>G (p.Phe879Leu) c.2574T>G (p.Phe858Leu) c.2571T>G (p.Phe857Leu) c.2529T>G (p.Phe843Leu) c.1602T>G (p.Phe534Leu) | |
| 20 | g.63406677A>G | CA511339184 | KCNQ2 | c.2640T>C (p.Phe880=) c.2586T>C (p.Phe862=) c.1983T>C (p.Phe661=) c.2493T>C (p.Phe831=) c.2154T>C (p.Phe718=) c.2502T>C (p.Phe834=) c.2241+369T>C (n.2241+369T>C) c.2205+369T>C (n.2205+369T>C) c.2532T>C (p.Phe844=) c.2133+369T>C (n.2133+369T>C) c.1680-5834T>C (n.1680-5834T>C) c.2628T>C (p.Phe876=) c.2694T>C (p.Phe898=) c.2691T>C (p.Phe897=) c.2664T>C (p.Phe888=) c.2610T>C (p.Phe870=) c.2583T>C (p.Phe861=) c.2568T>C (p.Phe856=) c.2175T>C (p.Phe725=) c.2637T>C (p.Phe879=) c.2574T>C (p.Phe858=) c.2571T>C (p.Phe857=) c.2529T>C (p.Phe843=) c.1602T>C (p.Phe534=) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63406677A>T | CA409636442 | KCNQ2 | c.2640T>A (p.Phe880Leu) c.2586T>A (p.Phe862Leu) c.1983T>A (p.Phe661Leu) c.2493T>A (p.Phe831Leu) c.2154T>A (p.Phe718Leu) c.2502T>A (p.Phe834Leu) c.2241+369T>A (n.2241+369T>A) c.2205+369T>A (n.2205+369T>A) c.2532T>A (p.Phe844Leu) c.2133+369T>A (n.2133+369T>A) c.1680-5834T>A (n.1680-5834T>A) c.2628T>A (p.Phe876Leu) c.2694T>A (p.Phe898Leu) c.2691T>A (p.Phe897Leu) c.2664T>A (p.Phe888Leu) c.2610T>A (p.Phe870Leu) c.2583T>A (p.Phe861Leu) c.2568T>A (p.Phe856Leu) c.2175T>A (p.Phe725Leu) c.2637T>A (p.Phe879Leu) c.2574T>A (p.Phe858Leu) c.2571T>A (p.Phe857Leu) c.2529T>A (p.Phe843Leu) c.1602T>A (p.Phe534Leu) | |
| 20 | g.63406679del | CA2653804361 | KCNQ2 | c.2640del (p.Phe880LeufsTer?) c.2586del (p.Phe862LeufsTer?) c.1983del (p.Phe661LeufsTer?) c.2493del (p.Phe831LeufsTer?) c.2154del (p.Phe718LeufsTer?) c.2502del (p.Phe834LeufsTer?) c.2241+369del (n.2241+369del) c.2205+369del (n.2205+369del) c.2532del (p.Phe844LeufsTer?) c.2133+369del (n.2133+369del) c.1680-5834del (n.1680-5834del) c.2628del (p.Phe876LeufsTer?) c.2694del (p.Phe898LeufsTer?) c.2691del (p.Phe897LeufsTer?) c.2664del (p.Phe888LeufsTer?) c.2610del (p.Phe870LeufsTer?) c.2583del (p.Phe861LeufsTer?) c.2568del (p.Phe856LeufsTer?) c.2175del (p.Phe725LeufsTer?) c.2637del (p.Phe879LeufsTer?) c.2574del (p.Phe858LeufsTer?) c.2571del (p.Phe857LeufsTer?) c.2529del (p.Phe843LeufsTer?) c.1602del (p.Phe534LeufsTer?) | gnomAD v4 |
| 20 | g.63406678A>C | CA409636446 | KCNQ2 | c.2639T>G (p.Phe880Cys) c.2585T>G (p.Phe862Cys) c.1982T>G (p.Phe661Cys) c.2492T>G (p.Phe831Cys) c.2153T>G (p.Phe718Cys) c.2501T>G (p.Phe834Cys) c.2241+368T>G (n.2241+368T>G) c.2205+368T>G (n.2205+368T>G) c.2531T>G (p.Phe844Cys) c.2133+368T>G (n.2133+368T>G) c.1680-5835T>G (n.1680-5835T>G) c.2627T>G (p.Phe876Cys) c.2693T>G (p.Phe898Cys) c.2690T>G (p.Phe897Cys) c.2663T>G (p.Phe888Cys) c.2609T>G (p.Phe870Cys) c.2582T>G (p.Phe861Cys) c.2567T>G (p.Phe856Cys) c.2174T>G (p.Phe725Cys) c.2636T>G (p.Phe879Cys) c.2573T>G (p.Phe858Cys) c.2570T>G (p.Phe857Cys) c.2528T>G (p.Phe843Cys) c.1601T>G (p.Phe534Cys) | |
| 20 | g.63406678A>G | CA409636448 | KCNQ2 | c.2639T>C (p.Phe880Ser) c.2585T>C (p.Phe862Ser) c.1982T>C (p.Phe661Ser) c.2492T>C (p.Phe831Ser) c.2153T>C (p.Phe718Ser) c.2501T>C (p.Phe834Ser) c.2241+368T>C (n.2241+368T>C) c.2205+368T>C (n.2205+368T>C) c.2531T>C (p.Phe844Ser) c.2133+368T>C (n.2133+368T>C) c.1680-5835T>C (n.1680-5835T>C) c.2627T>C (p.Phe876Ser) c.2693T>C (p.Phe898Ser) c.2690T>C (p.Phe897Ser) c.2663T>C (p.Phe888Ser) c.2609T>C (p.Phe870Ser) c.2582T>C (p.Phe861Ser) c.2567T>C (p.Phe856Ser) c.2174T>C (p.Phe725Ser) c.2636T>C (p.Phe879Ser) c.2573T>C (p.Phe858Ser) c.2570T>C (p.Phe857Ser) c.2528T>C (p.Phe843Ser) c.1601T>C (p.Phe534Ser) | |
| 20 | g.63406678A>T | CA409636450 | KCNQ2 | c.2639T>A (p.Phe880Tyr) c.2585T>A (p.Phe862Tyr) c.1982T>A (p.Phe661Tyr) c.2492T>A (p.Phe831Tyr) c.2153T>A (p.Phe718Tyr) c.2501T>A (p.Phe834Tyr) c.2241+368T>A (n.2241+368T>A) c.2205+368T>A (n.2205+368T>A) c.2531T>A (p.Phe844Tyr) c.2133+368T>A (n.2133+368T>A) c.1680-5835T>A (n.1680-5835T>A) c.2627T>A (p.Phe876Tyr) c.2693T>A (p.Phe898Tyr) c.2690T>A (p.Phe897Tyr) c.2663T>A (p.Phe888Tyr) c.2609T>A (p.Phe870Tyr) c.2582T>A (p.Phe861Tyr) c.2567T>A (p.Phe856Tyr) c.2174T>A (p.Phe725Tyr) c.2636T>A (p.Phe879Tyr) c.2573T>A (p.Phe858Tyr) c.2570T>A (p.Phe857Tyr) c.2528T>A (p.Phe843Tyr) c.1601T>A (p.Phe534Tyr) | |
| 20 | g.63406679A= | CA2374774188 | KCNQ2 | c.2638T= (p.Phe880=) c.2584T= (p.Phe862=) c.1981T= (p.Phe661=) c.2491T= (p.Phe831=) c.2152T= (p.Phe718=) c.2500T= (p.Phe834=) c.2241+367T= (n.2241+367T=) c.2205+367T= (n.2205+367T=) c.2530T= (p.Phe844=) c.2133+367T= (n.2133+367T=) c.1680-5836T= (n.1680-5836T=) c.2626T= (p.Phe876=) c.2692T= (p.Phe898=) c.2689T= (p.Phe897=) c.2662T= (p.Phe888=) c.2608T= (p.Phe870=) c.2581T= (p.Phe861=) c.2566T= (p.Phe856=) c.2173T= (p.Phe725=) c.2635T= (p.Phe879=) c.2572T= (p.Phe858=) c.2569T= (p.Phe857=) c.2527T= (p.Phe843=) c.1600T= (p.Phe534=) | |
| 20 | g.63406679A>C | CA409636452 | KCNQ2 | c.2638T>G (p.Phe880Val) c.2584T>G (p.Phe862Val) c.1981T>G (p.Phe661Val) c.2491T>G (p.Phe831Val) c.2152T>G (p.Phe718Val) c.2500T>G (p.Phe834Val) c.2241+367T>G (n.2241+367T>G) c.2205+367T>G (n.2205+367T>G) c.2530T>G (p.Phe844Val) c.2133+367T>G (n.2133+367T>G) c.1680-5836T>G (n.1680-5836T>G) c.2626T>G (p.Phe876Val) c.2692T>G (p.Phe898Val) c.2689T>G (p.Phe897Val) c.2662T>G (p.Phe888Val) c.2608T>G (p.Phe870Val) c.2581T>G (p.Phe861Val) c.2566T>G (p.Phe856Val) c.2173T>G (p.Phe725Val) c.2635T>G (p.Phe879Val) c.2572T>G (p.Phe858Val) c.2569T>G (p.Phe857Val) c.2527T>G (p.Phe843Val) c.1600T>G (p.Phe534Val) | |
| 20 | g.63406679A>G | CA090955 | KCNQ2 | c.2638T>C (p.Phe880Leu) c.2584T>C (p.Phe862Leu) c.1981T>C (p.Phe661Leu) c.2491T>C (p.Phe831Leu) c.2152T>C (p.Phe718Leu) c.2500T>C (p.Phe834Leu) c.2241+367T>C (n.2241+367T>C) c.2205+367T>C (n.2205+367T>C) c.2530T>C (p.Phe844Leu) c.2133+367T>C (n.2133+367T>C) c.1680-5836T>C (n.1680-5836T>C) c.2626T>C (p.Phe876Leu) c.2692T>C (p.Phe898Leu) c.2689T>C (p.Phe897Leu) c.2662T>C (p.Phe888Leu) c.2608T>C (p.Phe870Leu) c.2581T>C (p.Phe861Leu) c.2566T>C (p.Phe856Leu) c.2173T>C (p.Phe725Leu) c.2635T>C (p.Phe879Leu) c.2572T>C (p.Phe858Leu) c.2569T>C (p.Phe857Leu) c.2527T>C (p.Phe843Leu) c.1600T>C (p.Phe534Leu) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63406679A>T | CA409636455 | KCNQ2 | c.2638T>A (p.Phe880Ile) c.2584T>A (p.Phe862Ile) c.1981T>A (p.Phe661Ile) c.2491T>A (p.Phe831Ile) c.2152T>A (p.Phe718Ile) c.2500T>A (p.Phe834Ile) c.2241+367T>A (n.2241+367T>A) c.2205+367T>A (n.2205+367T>A) c.2530T>A (p.Phe844Ile) c.2133+367T>A (n.2133+367T>A) c.1680-5836T>A (n.1680-5836T>A) c.2626T>A (p.Phe876Ile) c.2692T>A (p.Phe898Ile) c.2689T>A (p.Phe897Ile) c.2662T>A (p.Phe888Ile) c.2608T>A (p.Phe870Ile) c.2581T>A (p.Phe861Ile) c.2566T>A (p.Phe856Ile) c.2173T>A (p.Phe725Ile) c.2635T>A (p.Phe879Ile) c.2572T>A (p.Phe858Ile) c.2569T>A (p.Phe857Ile) c.2527T>A (p.Phe843Ile) c.1600T>A (p.Phe534Ile) | |
| 20 | g.63406680G>A | CA511339185 | KCNQ2 | c.2637C>T (p.Pro879=) c.2583C>T (p.Pro861=) c.1980C>T (p.Pro660=) c.2490C>T (p.Pro830=) c.2151C>T (p.Pro717=) c.2499C>T (p.Pro833=) c.2241+366C>T (n.2241+366C>T) c.2205+366C>T (n.2205+366C>T) c.2529C>T (p.Pro843=) c.2133+366C>T (n.2133+366C>T) c.1680-5837C>T (n.1680-5837C>T) c.2625C>T (p.Pro875=) c.2691C>T (p.Pro897=) c.2688C>T (p.Pro896=) c.2661C>T (p.Pro887=) c.2607C>T (p.Pro869=) c.2580C>T (p.Pro860=) c.2565C>T (p.Pro855=) c.2172C>T (p.Pro724=) c.2634C>T (p.Pro878=) c.2571C>T (p.Pro857=) c.2568C>T (p.Pro856=) c.2526C>T (p.Pro842=) c.1599C>T (p.Pro533=) | |
| 20 | g.63406680G>C | CA511339186 | KCNQ2 | c.2637C>G (p.Pro879=) c.2583C>G (p.Pro861=) c.1980C>G (p.Pro660=) c.2490C>G (p.Pro830=) c.2151C>G (p.Pro717=) c.2499C>G (p.Pro833=) c.2241+366C>G (n.2241+366C>G) c.2205+366C>G (n.2205+366C>G) c.2529C>G (p.Pro843=) c.2133+366C>G (n.2133+366C>G) c.1680-5837C>G (n.1680-5837C>G) c.2625C>G (p.Pro875=) c.2691C>G (p.Pro897=) c.2688C>G (p.Pro896=) c.2661C>G (p.Pro887=) c.2607C>G (p.Pro869=) c.2580C>G (p.Pro860=) c.2565C>G (p.Pro855=) c.2172C>G (p.Pro724=) c.2634C>G (p.Pro878=) c.2571C>G (p.Pro857=) c.2568C>G (p.Pro856=) c.2526C>G (p.Pro842=) c.1599C>G (p.Pro533=) | ClinVar |
| 20 | g.63406680G= | CA2374774189 | KCNQ2 | c.2637C= (p.Pro879=) c.2583C= (p.Pro861=) c.1980C= (p.Pro660=) c.2490C= (p.Pro830=) c.2151C= (p.Pro717=) c.2499C= (p.Pro833=) c.2241+366C= (n.2241+366C=) c.2205+366C= (n.2205+366C=) c.2529C= (p.Pro843=) c.2133+366C= (n.2133+366C=) c.1680-5837C= (n.1680-5837C=) c.2625C= (p.Pro875=) c.2691C= (p.Pro897=) c.2688C= (p.Pro896=) c.2661C= (p.Pro887=) c.2607C= (p.Pro869=) c.2580C= (p.Pro860=) c.2565C= (p.Pro855=) c.2172C= (p.Pro724=) c.2634C= (p.Pro878=) c.2571C= (p.Pro857=) c.2568C= (p.Pro856=) c.2526C= (p.Pro842=) c.1599C= (p.Pro533=) | |
| 20 | g.63406680G>T | CA511339187 | KCNQ2 | c.2637C>A (p.Pro879=) c.2583C>A (p.Pro861=) c.1980C>A (p.Pro660=) c.2490C>A (p.Pro830=) c.2151C>A (p.Pro717=) c.2499C>A (p.Pro833=) c.2241+366C>A (n.2241+366C>A) c.2205+366C>A (n.2205+366C>A) c.2529C>A (p.Pro843=) c.2133+366C>A (n.2133+366C>A) c.1680-5837C>A (n.1680-5837C>A) c.2625C>A (p.Pro875=) c.2691C>A (p.Pro897=) c.2688C>A (p.Pro896=) c.2661C>A (p.Pro887=) c.2607C>A (p.Pro869=) c.2580C>A (p.Pro860=) c.2565C>A (p.Pro855=) c.2172C>A (p.Pro724=) c.2634C>A (p.Pro878=) c.2571C>A (p.Pro857=) c.2568C>A (p.Pro856=) c.2526C>A (p.Pro842=) c.1599C>A (p.Pro533=) | ClinVar dbSNP gnomAD v4 |
| 20 | g.63406681G>A | CA409636457 | KCNQ2 | c.2636C>T (p.Pro879Leu) c.2582C>T (p.Pro861Leu) c.1979C>T (p.Pro660Leu) c.2489C>T (p.Pro830Leu) c.2150C>T (p.Pro717Leu) c.2498C>T (p.Pro833Leu) c.2241+365C>T (n.2241+365C>T) c.2205+365C>T (n.2205+365C>T) c.2528C>T (p.Pro843Leu) c.2133+365C>T (n.2133+365C>T) c.1680-5838C>T (n.1680-5838C>T) c.2624C>T (p.Pro875Leu) c.2690C>T (p.Pro897Leu) c.2687C>T (p.Pro896Leu) c.2660C>T (p.Pro887Leu) c.2606C>T (p.Pro869Leu) c.2579C>T (p.Pro860Leu) c.2564C>T (p.Pro855Leu) c.2171C>T (p.Pro724Leu) c.2633C>T (p.Pro878Leu) c.2570C>T (p.Pro857Leu) c.2567C>T (p.Pro856Leu) c.2525C>T (p.Pro842Leu) c.1598C>T (p.Pro533Leu) | gnomAD v4 |
| 20 | g.63406681G>C | CA409636460 | KCNQ2 | c.2636C>G (p.Pro879Arg) c.2582C>G (p.Pro861Arg) c.1979C>G (p.Pro660Arg) c.2489C>G (p.Pro830Arg) c.2150C>G (p.Pro717Arg) c.2498C>G (p.Pro833Arg) c.2241+365C>G (n.2241+365C>G) c.2205+365C>G (n.2205+365C>G) c.2528C>G (p.Pro843Arg) c.2133+365C>G (n.2133+365C>G) c.1680-5838C>G (n.1680-5838C>G) c.2624C>G (p.Pro875Arg) c.2690C>G (p.Pro897Arg) c.2687C>G (p.Pro896Arg) c.2660C>G (p.Pro887Arg) c.2606C>G (p.Pro869Arg) c.2579C>G (p.Pro860Arg) c.2564C>G (p.Pro855Arg) c.2171C>G (p.Pro724Arg) c.2633C>G (p.Pro878Arg) c.2570C>G (p.Pro857Arg) c.2567C>G (p.Pro856Arg) c.2525C>G (p.Pro842Arg) c.1598C>G (p.Pro533Arg) | |
| 20 | g.63406681G>T | CA409636462 | KCNQ2 | c.2636C>A (p.Pro879His) c.2582C>A (p.Pro861His) c.1979C>A (p.Pro660His) c.2489C>A (p.Pro830His) c.2150C>A (p.Pro717His) c.2498C>A (p.Pro833His) c.2241+365C>A (n.2241+365C>A) c.2205+365C>A (n.2205+365C>A) c.2528C>A (p.Pro843His) c.2133+365C>A (n.2133+365C>A) c.1680-5838C>A (n.1680-5838C>A) c.2624C>A (p.Pro875His) c.2690C>A (p.Pro897His) c.2687C>A (p.Pro896His) c.2660C>A (p.Pro887His) c.2606C>A (p.Pro869His) c.2579C>A (p.Pro860His) c.2564C>A (p.Pro855His) c.2171C>A (p.Pro724His) c.2633C>A (p.Pro878His) c.2570C>A (p.Pro857His) c.2567C>A (p.Pro856His) c.2525C>A (p.Pro842His) c.1598C>A (p.Pro533His) | gnomAD v4 |
| 20 | g.63406682G>A | CA409636464 | KCNQ2 | c.2635C>T (p.Pro879Ser) c.2581C>T (p.Pro861Ser) c.1978C>T (p.Pro660Ser) c.2488C>T (p.Pro830Ser) c.2149C>T (p.Pro717Ser) c.2497C>T (p.Pro833Ser) c.2241+364C>T (n.2241+364C>T) c.2205+364C>T (n.2205+364C>T) c.2527C>T (p.Pro843Ser) c.2133+364C>T (n.2133+364C>T) c.1680-5839C>T (n.1680-5839C>T) c.2623C>T (p.Pro875Ser) c.2689C>T (p.Pro897Ser) c.2686C>T (p.Pro896Ser) c.2659C>T (p.Pro887Ser) c.2605C>T (p.Pro869Ser) c.2578C>T (p.Pro860Ser) c.2563C>T (p.Pro855Ser) c.2170C>T (p.Pro724Ser) c.2632C>T (p.Pro878Ser) c.2569C>T (p.Pro857Ser) c.2566C>T (p.Pro856Ser) c.2524C>T (p.Pro842Ser) c.1597C>T (p.Pro533Ser) | dbSNP gnomAD v4 |
| 20 | g.63406682G>C | CA409636465 | KCNQ2 | c.2635C>G (p.Pro879Ala) c.2581C>G (p.Pro861Ala) c.1978C>G (p.Pro660Ala) c.2488C>G (p.Pro830Ala) c.2149C>G (p.Pro717Ala) c.2497C>G (p.Pro833Ala) c.2241+364C>G (n.2241+364C>G) c.2205+364C>G (n.2205+364C>G) c.2527C>G (p.Pro843Ala) c.2133+364C>G (n.2133+364C>G) c.1680-5839C>G (n.1680-5839C>G) c.2623C>G (p.Pro875Ala) c.2689C>G (p.Pro897Ala) c.2686C>G (p.Pro896Ala) c.2659C>G (p.Pro887Ala) c.2605C>G (p.Pro869Ala) c.2578C>G (p.Pro860Ala) c.2563C>G (p.Pro855Ala) c.2170C>G (p.Pro724Ala) c.2632C>G (p.Pro878Ala) c.2569C>G (p.Pro857Ala) c.2566C>G (p.Pro856Ala) c.2524C>G (p.Pro842Ala) c.1597C>G (p.Pro533Ala) | |
| 20 | g.63406682G= | CA2374774190 | KCNQ2 | c.2635C= (p.Pro879=) c.2581C= (p.Pro861=) c.1978C= (p.Pro660=) c.2488C= (p.Pro830=) c.2149C= (p.Pro717=) c.2497C= (p.Pro833=) c.2241+364C= (n.2241+364C=) c.2205+364C= (n.2205+364C=) c.2527C= (p.Pro843=) c.2133+364C= (n.2133+364C=) c.1680-5839C= (n.1680-5839C=) c.2623C= (p.Pro875=) c.2689C= (p.Pro897=) c.2686C= (p.Pro896=) c.2659C= (p.Pro887=) c.2605C= (p.Pro869=) c.2578C= (p.Pro860=) c.2563C= (p.Pro855=) c.2170C= (p.Pro724=) c.2632C= (p.Pro878=) c.2569C= (p.Pro857=) c.2566C= (p.Pro856=) c.2524C= (p.Pro842=) c.1597C= (p.Pro533=) | |
| 20 | g.63406682G>T | CA409636466 | KCNQ2 | c.2635C>A (p.Pro879Thr) c.2581C>A (p.Pro861Thr) c.1978C>A (p.Pro660Thr) c.2488C>A (p.Pro830Thr) c.2149C>A (p.Pro717Thr) c.2497C>A (p.Pro833Thr) c.2241+364C>A (n.2241+364C>A) c.2205+364C>A (n.2205+364C>A) c.2527C>A (p.Pro843Thr) c.2133+364C>A (n.2133+364C>A) c.1680-5839C>A (n.1680-5839C>A) c.2623C>A (p.Pro875Thr) c.2689C>A (p.Pro897Thr) c.2686C>A (p.Pro896Thr) c.2659C>A (p.Pro887Thr) c.2605C>A (p.Pro869Thr) c.2578C>A (p.Pro860Thr) c.2563C>A (p.Pro855Thr) c.2170C>A (p.Pro724Thr) c.2632C>A (p.Pro878Thr) c.2569C>A (p.Pro857Thr) c.2566C>A (p.Pro856Thr) c.2524C>A (p.Pro842Thr) c.1597C>A (p.Pro533Thr) | gnomAD v4 |
| 20 | g.63406683A>C | CA511339188 | KCNQ2 | c.2634T>G (p.Gly878=) c.2580T>G (p.Gly860=) c.1977T>G (p.Gly659=) c.2487T>G (p.Gly829=) c.2148T>G (p.Gly716=) c.2496T>G (p.Gly832=) c.2241+363T>G (n.2241+363T>G) c.2205+363T>G (n.2205+363T>G) c.2526T>G (p.Gly842=) c.2133+363T>G (n.2133+363T>G) c.1680-5840T>G (n.1680-5840T>G) c.2622T>G (p.Gly874=) c.2688T>G (p.Gly896=) c.2685T>G (p.Gly895=) c.2658T>G (p.Gly886=) c.2604T>G (p.Gly868=) c.2577T>G (p.Gly859=) c.2562T>G (p.Gly854=) c.2169T>G (p.Gly723=) c.2631T>G (p.Gly877=) c.2568T>G (p.Gly856=) c.2565T>G (p.Gly855=) c.2523T>G (p.Gly841=) c.1596T>G (p.Gly532=) | |
| 20 | g.63406683A>G | CA511339189 | KCNQ2 | c.2634T>C (p.Gly878=) c.2580T>C (p.Gly860=) c.1977T>C (p.Gly659=) c.2487T>C (p.Gly829=) c.2148T>C (p.Gly716=) c.2496T>C (p.Gly832=) c.2241+363T>C (n.2241+363T>C) c.2205+363T>C (n.2205+363T>C) c.2526T>C (p.Gly842=) c.2133+363T>C (n.2133+363T>C) c.1680-5840T>C (n.1680-5840T>C) c.2622T>C (p.Gly874=) c.2688T>C (p.Gly896=) c.2685T>C (p.Gly895=) c.2658T>C (p.Gly886=) c.2604T>C (p.Gly868=) c.2577T>C (p.Gly859=) c.2562T>C (p.Gly854=) c.2169T>C (p.Gly723=) c.2631T>C (p.Gly877=) c.2568T>C (p.Gly856=) c.2565T>C (p.Gly855=) c.2523T>C (p.Gly841=) c.1596T>C (p.Gly532=) | gnomAD v4 |
| 20 | g.63406683A>T | CA511339190 | KCNQ2 | c.2634T>A (p.Gly878=) c.2580T>A (p.Gly860=) c.1977T>A (p.Gly659=) c.2487T>A (p.Gly829=) c.2148T>A (p.Gly716=) c.2496T>A (p.Gly832=) c.2241+363T>A (n.2241+363T>A) c.2205+363T>A (n.2205+363T>A) c.2526T>A (p.Gly842=) c.2133+363T>A (n.2133+363T>A) c.1680-5840T>A (n.1680-5840T>A) c.2622T>A (p.Gly874=) c.2688T>A (p.Gly896=) c.2685T>A (p.Gly895=) c.2658T>A (p.Gly886=) c.2604T>A (p.Gly868=) c.2577T>A (p.Gly859=) c.2562T>A (p.Gly854=) c.2169T>A (p.Gly723=) c.2631T>A (p.Gly877=) c.2568T>A (p.Gly856=) c.2565T>A (p.Gly855=) c.2523T>A (p.Gly841=) c.1596T>A (p.Gly532=) | |
| 20 | g.63406684C>A | CA409636471 | KCNQ2 | c.2633G>T (p.Gly878Val) c.2579G>T (p.Gly860Val) c.1976G>T (p.Gly659Val) c.2486G>T (p.Gly829Val) c.2147G>T (p.Gly716Val) c.2495G>T (p.Gly832Val) c.2241+362G>T (n.2241+362G>T) c.2205+362G>T (n.2205+362G>T) c.2525G>T (p.Gly842Val) c.2133+362G>T (n.2133+362G>T) c.1680-5841G>T (n.1680-5841G>T) c.2621G>T (p.Gly874Val) c.2687G>T (p.Gly896Val) c.2684G>T (p.Gly895Val) c.2657G>T (p.Gly886Val) c.2603G>T (p.Gly868Val) c.2576G>T (p.Gly859Val) c.2561G>T (p.Gly854Val) c.2168G>T (p.Gly723Val) c.2630G>T (p.Gly877Val) c.2567G>T (p.Gly856Val) c.2564G>T (p.Gly855Val) c.2522G>T (p.Gly841Val) c.1595G>T (p.Gly532Val) | dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.63406684C= | CA2374774191 | KCNQ2 | c.2633G= (p.Gly878=) c.2579G= (p.Gly860=) c.1976G= (p.Gly659=) c.2486G= (p.Gly829=) c.2147G= (p.Gly716=) c.2495G= (p.Gly832=) c.2241+362G= (n.2241+362G=) c.2205+362G= (n.2205+362G=) c.2525G= (p.Gly842=) c.2133+362G= (n.2133+362G=) c.1680-5841G= (n.1680-5841G=) c.2621G= (p.Gly874=) c.2687G= (p.Gly896=) c.2684G= (p.Gly895=) c.2657G= (p.Gly886=) c.2603G= (p.Gly868=) c.2576G= (p.Gly859=) c.2561G= (p.Gly854=) c.2168G= (p.Gly723=) c.2630G= (p.Gly877=) c.2567G= (p.Gly856=) c.2564G= (p.Gly855=) c.2522G= (p.Gly841=) c.1595G= (p.Gly532=) | |
| 20 | g.63406684C>G | CA409636469 | KCNQ2 | c.2633G>C (p.Gly878Ala) c.2579G>C (p.Gly860Ala) c.1976G>C (p.Gly659Ala) c.2486G>C (p.Gly829Ala) c.2147G>C (p.Gly716Ala) c.2495G>C (p.Gly832Ala) c.2241+362G>C (n.2241+362G>C) c.2205+362G>C (n.2205+362G>C) c.2525G>C (p.Gly842Ala) c.2133+362G>C (n.2133+362G>C) c.1680-5841G>C (n.1680-5841G>C) c.2621G>C (p.Gly874Ala) c.2687G>C (p.Gly896Ala) c.2684G>C (p.Gly895Ala) c.2657G>C (p.Gly886Ala) c.2603G>C (p.Gly868Ala) c.2576G>C (p.Gly859Ala) c.2561G>C (p.Gly854Ala) c.2168G>C (p.Gly723Ala) c.2630G>C (p.Gly877Ala) c.2567G>C (p.Gly856Ala) c.2564G>C (p.Gly855Ala) c.2522G>C (p.Gly841Ala) c.1595G>C (p.Gly532Ala) | |
| 20 | g.63406684C>T | CA409636468 | KCNQ2 | c.2633G>A (p.Gly878Asp) c.2579G>A (p.Gly860Asp) c.1976G>A (p.Gly659Asp) c.2486G>A (p.Gly829Asp) c.2147G>A (p.Gly716Asp) c.2495G>A (p.Gly832Asp) c.2241+362G>A (n.2241+362G>A) c.2205+362G>A (n.2205+362G>A) c.2525G>A (p.Gly842Asp) c.2133+362G>A (n.2133+362G>A) c.1680-5841G>A (n.1680-5841G>A) c.2621G>A (p.Gly874Asp) c.2687G>A (p.Gly896Asp) c.2684G>A (p.Gly895Asp) c.2657G>A (p.Gly886Asp) c.2603G>A (p.Gly868Asp) c.2576G>A (p.Gly859Asp) c.2561G>A (p.Gly854Asp) c.2168G>A (p.Gly723Asp) c.2630G>A (p.Gly877Asp) c.2567G>A (p.Gly856Asp) c.2564G>A (p.Gly855Asp) c.2522G>A (p.Gly841Asp) c.1595G>A (p.Gly532Asp) | |
| 20 | g.63406685C>A | CA409636473 | KCNQ2 | c.2632G>T (p.Gly878Cys) c.2578G>T (p.Gly860Cys) c.1975G>T (p.Gly659Cys) c.2485G>T (p.Gly829Cys) c.2146G>T (p.Gly716Cys) c.2494G>T (p.Gly832Cys) c.2241+361G>T (n.2241+361G>T) c.2205+361G>T (n.2205+361G>T) c.2524G>T (p.Gly842Cys) c.2133+361G>T (n.2133+361G>T) c.1680-5842G>T (n.1680-5842G>T) c.2620G>T (p.Gly874Cys) c.2686G>T (p.Gly896Cys) c.2683G>T (p.Gly895Cys) c.2656G>T (p.Gly886Cys) c.2602G>T (p.Gly868Cys) c.2575G>T (p.Gly859Cys) c.2560G>T (p.Gly854Cys) c.2167G>T (p.Gly723Cys) c.2629G>T (p.Gly877Cys) c.2566G>T (p.Gly856Cys) c.2563G>T (p.Gly855Cys) c.2521G>T (p.Gly841Cys) c.1594G>T (p.Gly532Cys) | gnomAD v4 |
| 20 | g.63406685C>G | CA409636475 | KCNQ2 | c.2632G>C (p.Gly878Arg) c.2578G>C (p.Gly860Arg) c.1975G>C (p.Gly659Arg) c.2485G>C (p.Gly829Arg) c.2146G>C (p.Gly716Arg) c.2494G>C (p.Gly832Arg) c.2241+361G>C (n.2241+361G>C) c.2205+361G>C (n.2205+361G>C) c.2524G>C (p.Gly842Arg) c.2133+361G>C (n.2133+361G>C) c.1680-5842G>C (n.1680-5842G>C) c.2620G>C (p.Gly874Arg) c.2686G>C (p.Gly896Arg) c.2683G>C (p.Gly895Arg) c.2656G>C (p.Gly886Arg) c.2602G>C (p.Gly868Arg) c.2575G>C (p.Gly859Arg) c.2560G>C (p.Gly854Arg) c.2167G>C (p.Gly723Arg) c.2629G>C (p.Gly877Arg) c.2566G>C (p.Gly856Arg) c.2563G>C (p.Gly855Arg) c.2521G>C (p.Gly841Arg) c.1594G>C (p.Gly532Arg) | ClinVar |
| 20 | g.63406685C>T | CA409636477 | KCNQ2 | c.2632G>A (p.Gly878Ser) c.2578G>A (p.Gly860Ser) c.1975G>A (p.Gly659Ser) c.2485G>A (p.Gly829Ser) c.2146G>A (p.Gly716Ser) c.2494G>A (p.Gly832Ser) c.2241+361G>A (n.2241+361G>A) c.2205+361G>A (n.2205+361G>A) c.2524G>A (p.Gly842Ser) c.2133+361G>A (n.2133+361G>A) c.1680-5842G>A (n.1680-5842G>A) c.2620G>A (p.Gly874Ser) c.2686G>A (p.Gly896Ser) c.2683G>A (p.Gly895Ser) c.2656G>A (p.Gly886Ser) c.2602G>A (p.Gly868Ser) c.2575G>A (p.Gly859Ser) c.2560G>A (p.Gly854Ser) c.2167G>A (p.Gly723Ser) c.2629G>A (p.Gly877Ser) c.2566G>A (p.Gly856Ser) c.2563G>A (p.Gly855Ser) c.2521G>A (p.Gly841Ser) c.1594G>A (p.Gly532Ser) | gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.63406686C>A | CA409636479 | KCNQ2 | c.2631G>T (p.Glu877Asp) c.2577G>T (p.Glu859Asp) c.1974G>T (p.Glu658Asp) c.2484G>T (p.Glu828Asp) c.2145G>T (p.Glu715Asp) c.2493G>T (p.Glu831Asp) c.2241+360G>T (n.2241+360G>T) c.2205+360G>T (n.2205+360G>T) c.2523G>T (p.Glu841Asp) c.2133+360G>T (n.2133+360G>T) c.1680-5843G>T (n.1680-5843G>T) c.2619G>T (p.Glu873Asp) c.2685G>T (p.Glu895Asp) c.2682G>T (p.Glu894Asp) c.2655G>T (p.Glu885Asp) c.2601G>T (p.Glu867Asp) c.2574G>T (p.Glu858Asp) c.2559G>T (p.Glu853Asp) c.2166G>T (p.Glu722Asp) c.2628G>T (p.Glu876Asp) c.2565G>T (p.Glu855Asp) c.2562G>T (p.Glu854Asp) c.2520G>T (p.Glu840Asp) c.1593G>T (p.Glu531Asp) | gnomAD v4 |
| 20 | g.63406686C= | CA2374774192 | KCNQ2 | c.2631G= (p.Glu877=) c.2577G= (p.Glu859=) c.1974G= (p.Glu658=) c.2484G= (p.Glu828=) c.2145G= (p.Glu715=) c.2493G= (p.Glu831=) c.2241+360G= (n.2241+360G=) c.2205+360G= (n.2205+360G=) c.2523G= (p.Glu841=) c.2133+360G= (n.2133+360G=) c.1680-5843G= (n.1680-5843G=) c.2619G= (p.Glu873=) c.2685G= (p.Glu895=) c.2682G= (p.Glu894=) c.2655G= (p.Glu885=) c.2601G= (p.Glu867=) c.2574G= (p.Glu858=) c.2559G= (p.Glu853=) c.2166G= (p.Glu722=) c.2628G= (p.Glu876=) c.2565G= (p.Glu855=) c.2562G= (p.Glu854=) c.2520G= (p.Glu840=) c.1593G= (p.Glu531=) |