Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
20g.63406768G>ACA409636830KCNQ2c.2549C>T (p.Pro850Leu)
c.2495C>T (p.Pro832Leu)
c.1892C>T (p.Pro631Leu)
c.2402C>T (p.Pro801Leu)
c.2063C>T (p.Pro688Leu)
c.2411C>T (p.Pro804Leu)
c.2241+278C>T (n.2241+278C>T)
c.2205+278C>T (n.2205+278C>T)
c.2441C>T (p.Pro814Leu)
c.2133+278C>T (n.2133+278C>T)
c.1680-5925C>T (n.1680-5925C>T)
c.2537C>T (p.Pro846Leu)
c.2603C>T (p.Pro868Leu)
c.2600C>T (p.Pro867Leu)
c.2573C>T (p.Pro858Leu)
c.2519C>T (p.Pro840Leu)
c.2492C>T (p.Pro831Leu)
c.2477C>T (p.Pro826Leu)
c.2084C>T (p.Pro695Leu)
c.2546C>T (p.Pro849Leu)
c.2483C>T (p.Pro828Leu)
c.2480C>T (p.Pro827Leu)
c.2438C>T (p.Pro813Leu)
c.1511C>T (p.Pro504Leu)
 dbSNP gnomAD v2 gnomAD v4
20g.63406768G>CCA409636832KCNQ2c.2549C>G (p.Pro850Arg)
c.2495C>G (p.Pro832Arg)
c.1892C>G (p.Pro631Arg)
c.2402C>G (p.Pro801Arg)
c.2063C>G (p.Pro688Arg)
c.2411C>G (p.Pro804Arg)
c.2241+278C>G (n.2241+278C>G)
c.2205+278C>G (n.2205+278C>G)
c.2441C>G (p.Pro814Arg)
c.2133+278C>G (n.2133+278C>G)
c.1680-5925C>G (n.1680-5925C>G)
c.2537C>G (p.Pro846Arg)
c.2603C>G (p.Pro868Arg)
c.2600C>G (p.Pro867Arg)
c.2573C>G (p.Pro858Arg)
c.2519C>G (p.Pro840Arg)
c.2492C>G (p.Pro831Arg)
c.2477C>G (p.Pro826Arg)
c.2084C>G (p.Pro695Arg)
c.2546C>G (p.Pro849Arg)
c.2483C>G (p.Pro828Arg)
c.2480C>G (p.Pro827Arg)
c.2438C>G (p.Pro813Arg)
c.1511C>G (p.Pro504Arg)
20g.63406768G=CA2374774238KCNQ2c.2549C= (p.Pro850=)
c.2495C= (p.Pro832=)
c.1892C= (p.Pro631=)
c.2402C= (p.Pro801=)
c.2063C= (p.Pro688=)
c.2411C= (p.Pro804=)
c.2241+278C= (n.2241+278C=)
c.2205+278C= (n.2205+278C=)
c.2441C= (p.Pro814=)
c.2133+278C= (n.2133+278C=)
c.1680-5925C= (n.1680-5925C=)
c.2537C= (p.Pro846=)
c.2603C= (p.Pro868=)
c.2600C= (p.Pro867=)
c.2573C= (p.Pro858=)
c.2519C= (p.Pro840=)
c.2492C= (p.Pro831=)
c.2477C= (p.Pro826=)
c.2084C= (p.Pro695=)
c.2546C= (p.Pro849=)
c.2483C= (p.Pro828=)
c.2480C= (p.Pro827=)
c.2438C= (p.Pro813=)
c.1511C= (p.Pro504=)
20g.63406768G>TCA409636834KCNQ2c.2549C>A (p.Pro850His)
c.2495C>A (p.Pro832His)
c.1892C>A (p.Pro631His)
c.2402C>A (p.Pro801His)
c.2063C>A (p.Pro688His)
c.2411C>A (p.Pro804His)
c.2241+278C>A (n.2241+278C>A)
c.2205+278C>A (n.2205+278C>A)
c.2441C>A (p.Pro814His)
c.2133+278C>A (n.2133+278C>A)
c.1680-5925C>A (n.1680-5925C>A)
c.2537C>A (p.Pro846His)
c.2603C>A (p.Pro868His)
c.2600C>A (p.Pro867His)
c.2573C>A (p.Pro858His)
c.2519C>A (p.Pro840His)
c.2492C>A (p.Pro831His)
c.2477C>A (p.Pro826His)
c.2084C>A (p.Pro695His)
c.2546C>A (p.Pro849His)
c.2483C>A (p.Pro828His)
c.2480C>A (p.Pro827His)
c.2438C>A (p.Pro813His)
c.1511C>A (p.Pro504His)
20g.63406769G>ACA409636837KCNQ2c.2548C>T (p.Pro850Ser)
c.2494C>T (p.Pro832Ser)
c.1891C>T (p.Pro631Ser)
c.2401C>T (p.Pro801Ser)
c.2062C>T (p.Pro688Ser)
c.2410C>T (p.Pro804Ser)
c.2241+277C>T (n.2241+277C>T)
c.2205+277C>T (n.2205+277C>T)
c.2440C>T (p.Pro814Ser)
c.2133+277C>T (n.2133+277C>T)
c.1680-5926C>T (n.1680-5926C>T)
c.2536C>T (p.Pro846Ser)
c.2602C>T (p.Pro868Ser)
c.2599C>T (p.Pro867Ser)
c.2572C>T (p.Pro858Ser)
c.2518C>T (p.Pro840Ser)
c.2491C>T (p.Pro831Ser)
c.2476C>T (p.Pro826Ser)
c.2083C>T (p.Pro695Ser)
c.2545C>T (p.Pro849Ser)
c.2482C>T (p.Pro828Ser)
c.2479C>T (p.Pro827Ser)
c.2437C>T (p.Pro813Ser)
c.1510C>T (p.Pro504Ser)
 gnomAD v4
20g.63406769G>CCA409636838KCNQ2c.2548C>G (p.Pro850Ala)
c.2494C>G (p.Pro832Ala)
c.1891C>G (p.Pro631Ala)
c.2401C>G (p.Pro801Ala)
c.2062C>G (p.Pro688Ala)
c.2410C>G (p.Pro804Ala)
c.2241+277C>G (n.2241+277C>G)
c.2205+277C>G (n.2205+277C>G)
c.2440C>G (p.Pro814Ala)
c.2133+277C>G (n.2133+277C>G)
c.1680-5926C>G (n.1680-5926C>G)
c.2536C>G (p.Pro846Ala)
c.2602C>G (p.Pro868Ala)
c.2599C>G (p.Pro867Ala)
c.2572C>G (p.Pro858Ala)
c.2518C>G (p.Pro840Ala)
c.2491C>G (p.Pro831Ala)
c.2476C>G (p.Pro826Ala)
c.2083C>G (p.Pro695Ala)
c.2545C>G (p.Pro849Ala)
c.2482C>G (p.Pro828Ala)
c.2479C>G (p.Pro827Ala)
c.2437C>G (p.Pro813Ala)
c.1510C>G (p.Pro504Ala)
 gnomAD v4
20g.63406769G>TCA409636840KCNQ2c.2548C>A (p.Pro850Thr)
c.2494C>A (p.Pro832Thr)
c.1891C>A (p.Pro631Thr)
c.2401C>A (p.Pro801Thr)
c.2062C>A (p.Pro688Thr)
c.2410C>A (p.Pro804Thr)
c.2241+277C>A (n.2241+277C>A)
c.2205+277C>A (n.2205+277C>A)
c.2440C>A (p.Pro814Thr)
c.2133+277C>A (n.2133+277C>A)
c.1680-5926C>A (n.1680-5926C>A)
c.2536C>A (p.Pro846Thr)
c.2602C>A (p.Pro868Thr)
c.2599C>A (p.Pro867Thr)
c.2572C>A (p.Pro858Thr)
c.2518C>A (p.Pro840Thr)
c.2491C>A (p.Pro831Thr)
c.2476C>A (p.Pro826Thr)
c.2083C>A (p.Pro695Thr)
c.2545C>A (p.Pro849Thr)
c.2482C>A (p.Pro828Thr)
c.2479C>A (p.Pro827Thr)
c.2437C>A (p.Pro813Thr)
c.1510C>A (p.Pro504Thr)
20g.63406770C>ACA409636842KCNQ2c.2547G>T (p.Arg849Ser)
c.2493G>T (p.Arg831Ser)
c.1890G>T (p.Arg630Ser)
c.2400G>T (p.Arg800Ser)
c.2061G>T (p.Arg687Ser)
c.2409G>T (p.Arg803Ser)
c.2241+276G>T (n.2241+276G>T)
c.2205+276G>T (n.2205+276G>T)
c.2439G>T (p.Arg813Ser)
c.2133+276G>T (n.2133+276G>T)
c.1680-5927G>T (n.1680-5927G>T)
c.2535G>T (p.Arg845Ser)
c.2601G>T (p.Arg867Ser)
c.2598G>T (p.Arg866Ser)
c.2571G>T (p.Arg857Ser)
c.2517G>T (p.Arg839Ser)
c.2490G>T (p.Arg830Ser)
c.2475G>T (p.Arg825Ser)
c.2082G>T (p.Arg694Ser)
c.2544G>T (p.Arg848Ser)
c.2481G>T (p.Arg827Ser)
c.2478G>T (p.Arg826Ser)
c.2436G>T (p.Arg812Ser)
c.1509G>T (p.Arg503Ser)
 gnomAD v4
20g.63406770C>GCA409636844KCNQ2c.2547G>C (p.Arg849Ser)
c.2493G>C (p.Arg831Ser)
c.1890G>C (p.Arg630Ser)
c.2400G>C (p.Arg800Ser)
c.2061G>C (p.Arg687Ser)
c.2409G>C (p.Arg803Ser)
c.2241+276G>C (n.2241+276G>C)
c.2205+276G>C (n.2205+276G>C)
c.2439G>C (p.Arg813Ser)
c.2133+276G>C (n.2133+276G>C)
c.1680-5927G>C (n.1680-5927G>C)
c.2535G>C (p.Arg845Ser)
c.2601G>C (p.Arg867Ser)
c.2598G>C (p.Arg866Ser)
c.2571G>C (p.Arg857Ser)
c.2517G>C (p.Arg839Ser)
c.2490G>C (p.Arg830Ser)
c.2475G>C (p.Arg825Ser)
c.2082G>C (p.Arg694Ser)
c.2544G>C (p.Arg848Ser)
c.2481G>C (p.Arg827Ser)
c.2478G>C (p.Arg826Ser)
c.2436G>C (p.Arg812Ser)
c.1509G>C (p.Arg503Ser)
20g.63406770C>TCA511339261KCNQ2c.2547G>A (p.Arg849=)
c.2493G>A (p.Arg831=)
c.1890G>A (p.Arg630=)
c.2400G>A (p.Arg800=)
c.2061G>A (p.Arg687=)
c.2409G>A (p.Arg803=)
c.2241+276G>A (n.2241+276G>A)
c.2205+276G>A (n.2205+276G>A)
c.2439G>A (p.Arg813=)
c.2133+276G>A (n.2133+276G>A)
c.1680-5927G>A (n.1680-5927G>A)
c.2535G>A (p.Arg845=)
c.2601G>A (p.Arg867=)
c.2598G>A (p.Arg866=)
c.2571G>A (p.Arg857=)
c.2517G>A (p.Arg839=)
c.2490G>A (p.Arg830=)
c.2475G>A (p.Arg825=)
c.2082G>A (p.Arg694=)
c.2544G>A (p.Arg848=)
c.2481G>A (p.Arg827=)
c.2478G>A (p.Arg826=)
c.2436G>A (p.Arg812=)
c.1509G>A (p.Arg503=)
 ClinVar dbSNP gnomAD v4
20g.63406771C>ACA409636847KCNQ2c.2546G>T (p.Arg849Met)
c.2492G>T (p.Arg831Met)
c.1889G>T (p.Arg630Met)
c.2399G>T (p.Arg800Met)
c.2060G>T (p.Arg687Met)
c.2408G>T (p.Arg803Met)
c.2241+275G>T (n.2241+275G>T)
c.2205+275G>T (n.2205+275G>T)
c.2438G>T (p.Arg813Met)
c.2133+275G>T (n.2133+275G>T)
c.1680-5928G>T (n.1680-5928G>T)
c.2534G>T (p.Arg845Met)
c.2600G>T (p.Arg867Met)
c.2597G>T (p.Arg866Met)
c.2570G>T (p.Arg857Met)
c.2516G>T (p.Arg839Met)
c.2489G>T (p.Arg830Met)
c.2474G>T (p.Arg825Met)
c.2081G>T (p.Arg694Met)
c.2543G>T (p.Arg848Met)
c.2480G>T (p.Arg827Met)
c.2477G>T (p.Arg826Met)
c.2435G>T (p.Arg812Met)
c.1508G>T (p.Arg503Met)
 COSMIC
20g.63406771C>GCA409636848KCNQ2c.2546G>C (p.Arg849Thr)
c.2492G>C (p.Arg831Thr)
c.1889G>C (p.Arg630Thr)
c.2399G>C (p.Arg800Thr)
c.2060G>C (p.Arg687Thr)
c.2408G>C (p.Arg803Thr)
c.2241+275G>C (n.2241+275G>C)
c.2205+275G>C (n.2205+275G>C)
c.2438G>C (p.Arg813Thr)
c.2133+275G>C (n.2133+275G>C)
c.1680-5928G>C (n.1680-5928G>C)
c.2534G>C (p.Arg845Thr)
c.2600G>C (p.Arg867Thr)
c.2597G>C (p.Arg866Thr)
c.2570G>C (p.Arg857Thr)
c.2516G>C (p.Arg839Thr)
c.2489G>C (p.Arg830Thr)
c.2474G>C (p.Arg825Thr)
c.2081G>C (p.Arg694Thr)
c.2543G>C (p.Arg848Thr)
c.2480G>C (p.Arg827Thr)
c.2477G>C (p.Arg826Thr)
c.2435G>C (p.Arg812Thr)
c.1508G>C (p.Arg503Thr)
20g.63406771C>TCA409636850KCNQ2c.2546G>A (p.Arg849Lys)
c.2492G>A (p.Arg831Lys)
c.1889G>A (p.Arg630Lys)
c.2399G>A (p.Arg800Lys)
c.2060G>A (p.Arg687Lys)
c.2408G>A (p.Arg803Lys)
c.2241+275G>A (n.2241+275G>A)
c.2205+275G>A (n.2205+275G>A)
c.2438G>A (p.Arg813Lys)
c.2133+275G>A (n.2133+275G>A)
c.1680-5928G>A (n.1680-5928G>A)
c.2534G>A (p.Arg845Lys)
c.2600G>A (p.Arg867Lys)
c.2597G>A (p.Arg866Lys)
c.2570G>A (p.Arg857Lys)
c.2516G>A (p.Arg839Lys)
c.2489G>A (p.Arg830Lys)
c.2474G>A (p.Arg825Lys)
c.2081G>A (p.Arg694Lys)
c.2543G>A (p.Arg848Lys)
c.2480G>A (p.Arg827Lys)
c.2477G>A (p.Arg826Lys)
c.2435G>A (p.Arg812Lys)
c.1508G>A (p.Arg503Lys)
20g.63406772T>ACA409636853KCNQ2c.2545A>T (p.Arg849Trp)
c.2491A>T (p.Arg831Trp)
c.1888A>T (p.Arg630Trp)
c.2398A>T (p.Arg800Trp)
c.2059A>T (p.Arg687Trp)
c.2407A>T (p.Arg803Trp)
c.2241+274A>T (n.2241+274A>T)
c.2205+274A>T (n.2205+274A>T)
c.2437A>T (p.Arg813Trp)
c.2133+274A>T (n.2133+274A>T)
c.1680-5929A>T (n.1680-5929A>T)
c.2533A>T (p.Arg845Trp)
c.2599A>T (p.Arg867Trp)
c.2596A>T (p.Arg866Trp)
c.2569A>T (p.Arg857Trp)
c.2515A>T (p.Arg839Trp)
c.2488A>T (p.Arg830Trp)
c.2473A>T (p.Arg825Trp)
c.2080A>T (p.Arg694Trp)
c.2542A>T (p.Arg848Trp)
c.2479A>T (p.Arg827Trp)
c.2476A>T (p.Arg826Trp)
c.2434A>T (p.Arg812Trp)
c.1507A>T (p.Arg503Trp)
20g.63406772T>CCA409636854KCNQ2c.2545A>G (p.Arg849Gly)
c.2491A>G (p.Arg831Gly)
c.1888A>G (p.Arg630Gly)
c.2398A>G (p.Arg800Gly)
c.2059A>G (p.Arg687Gly)
c.2407A>G (p.Arg803Gly)
c.2241+274A>G (n.2241+274A>G)
c.2205+274A>G (n.2205+274A>G)
c.2437A>G (p.Arg813Gly)
c.2133+274A>G (n.2133+274A>G)
c.1680-5929A>G (n.1680-5929A>G)
c.2533A>G (p.Arg845Gly)
c.2599A>G (p.Arg867Gly)
c.2596A>G (p.Arg866Gly)
c.2569A>G (p.Arg857Gly)
c.2515A>G (p.Arg839Gly)
c.2488A>G (p.Arg830Gly)
c.2473A>G (p.Arg825Gly)
c.2080A>G (p.Arg694Gly)
c.2542A>G (p.Arg848Gly)
c.2479A>G (p.Arg827Gly)
c.2476A>G (p.Arg826Gly)
c.2434A>G (p.Arg812Gly)
c.1507A>G (p.Arg503Gly)
 dbSNP gnomAD v4
20g.63406772T>GCA511339264KCNQ2c.2545A>C (p.Arg849=)
c.2491A>C (p.Arg831=)
c.1888A>C (p.Arg630=)
c.2398A>C (p.Arg800=)
c.2059A>C (p.Arg687=)
c.2407A>C (p.Arg803=)
c.2241+274A>C (n.2241+274A>C)
c.2205+274A>C (n.2205+274A>C)
c.2437A>C (p.Arg813=)
c.2133+274A>C (n.2133+274A>C)
c.1680-5929A>C (n.1680-5929A>C)
c.2533A>C (p.Arg845=)
c.2599A>C (p.Arg867=)
c.2596A>C (p.Arg866=)
c.2569A>C (p.Arg857=)
c.2515A>C (p.Arg839=)
c.2488A>C (p.Arg830=)
c.2473A>C (p.Arg825=)
c.2080A>C (p.Arg694=)
c.2542A>C (p.Arg848=)
c.2479A>C (p.Arg827=)
c.2476A>C (p.Arg826=)
c.2434A>C (p.Arg812=)
c.1507A>C (p.Arg503=)
20g.63406772T=CA2374774239KCNQ2c.2545A= (p.Arg849=)
c.2491A= (p.Arg831=)
c.1888A= (p.Arg630=)
c.2398A= (p.Arg800=)
c.2059A= (p.Arg687=)
c.2407A= (p.Arg803=)
c.2241+274A= (n.2241+274A=)
c.2205+274A= (n.2205+274A=)
c.2437A= (p.Arg813=)
c.2133+274A= (n.2133+274A=)
c.1680-5929A= (n.1680-5929A=)
c.2533A= (p.Arg845=)
c.2599A= (p.Arg867=)
c.2596A= (p.Arg866=)
c.2569A= (p.Arg857=)
c.2515A= (p.Arg839=)
c.2488A= (p.Arg830=)
c.2473A= (p.Arg825=)
c.2080A= (p.Arg694=)
c.2542A= (p.Arg848=)
c.2479A= (p.Arg827=)
c.2476A= (p.Arg826=)
c.2434A= (p.Arg812=)
c.1507A= (p.Arg503=)
20g.63406773G>ACA511339266KCNQ2c.2544C>T (p.Val848=)
c.2490C>T (p.Val830=)
c.1887C>T (p.Val629=)
c.2397C>T (p.Val799=)
c.2058C>T (p.Val686=)
c.2406C>T (p.Val802=)
c.2241+273C>T (n.2241+273C>T)
c.2205+273C>T (n.2205+273C>T)
c.2436C>T (p.Val812=)
c.2133+273C>T (n.2133+273C>T)
c.1680-5930C>T (n.1680-5930C>T)
c.2532C>T (p.Val844=)
c.2598C>T (p.Val866=)
c.2595C>T (p.Val865=)
c.2568C>T (p.Val856=)
c.2514C>T (p.Val838=)
c.2487C>T (p.Val829=)
c.2472C>T (p.Val824=)
c.2079C>T (p.Val693=)
c.2541C>T (p.Val847=)
c.2478C>T (p.Val826=)
c.2475C>T (p.Val825=)
c.2433C>T (p.Val811=)
c.1506C>T (p.Val502=)
20g.63406773G>CCA9958068KCNQ2c.2544C>G (p.Val848=)
c.2490C>G (p.Val830=)
c.1887C>G (p.Val629=)
c.2397C>G (p.Val799=)
c.2058C>G (p.Val686=)
c.2406C>G (p.Val802=)
c.2241+273C>G (n.2241+273C>G)
c.2205+273C>G (n.2205+273C>G)
c.2436C>G (p.Val812=)
c.2133+273C>G (n.2133+273C>G)
c.1680-5930C>G (n.1680-5930C>G)
c.2532C>G (p.Val844=)
c.2598C>G (p.Val866=)
c.2595C>G (p.Val865=)
c.2568C>G (p.Val856=)
c.2514C>G (p.Val838=)
c.2487C>G (p.Val829=)
c.2472C>G (p.Val824=)
c.2079C>G (p.Val693=)
c.2541C>G (p.Val847=)
c.2478C>G (p.Val826=)
c.2475C>G (p.Val825=)
c.2433C>G (p.Val811=)
c.1506C>G (p.Val502=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406773G=CA2374774240KCNQ2c.2544C= (p.Val848=)
c.2490C= (p.Val830=)
c.1887C= (p.Val629=)
c.2397C= (p.Val799=)
c.2058C= (p.Val686=)
c.2406C= (p.Val802=)
c.2241+273C= (n.2241+273C=)
c.2205+273C= (n.2205+273C=)
c.2436C= (p.Val812=)
c.2133+273C= (n.2133+273C=)
c.1680-5930C= (n.1680-5930C=)
c.2532C= (p.Val844=)
c.2598C= (p.Val866=)
c.2595C= (p.Val865=)
c.2568C= (p.Val856=)
c.2514C= (p.Val838=)
c.2487C= (p.Val829=)
c.2472C= (p.Val824=)
c.2079C= (p.Val693=)
c.2541C= (p.Val847=)
c.2478C= (p.Val826=)
c.2475C= (p.Val825=)
c.2433C= (p.Val811=)
c.1506C= (p.Val502=)
20g.63406773G>TCA511339267KCNQ2c.2544C>A (p.Val848=)
c.2490C>A (p.Val830=)
c.1887C>A (p.Val629=)
c.2397C>A (p.Val799=)
c.2058C>A (p.Val686=)
c.2406C>A (p.Val802=)
c.2241+273C>A (n.2241+273C>A)
c.2205+273C>A (n.2205+273C>A)
c.2436C>A (p.Val812=)
c.2133+273C>A (n.2133+273C>A)
c.1680-5930C>A (n.1680-5930C>A)
c.2532C>A (p.Val844=)
c.2598C>A (p.Val866=)
c.2595C>A (p.Val865=)
c.2568C>A (p.Val856=)
c.2514C>A (p.Val838=)
c.2487C>A (p.Val829=)
c.2472C>A (p.Val824=)
c.2079C>A (p.Val693=)
c.2541C>A (p.Val847=)
c.2478C>A (p.Val826=)
c.2475C>A (p.Val825=)
c.2433C>A (p.Val811=)
c.1506C>A (p.Val502=)
20g.63406774A>CCA409636857KCNQ2c.2543T>G (p.Val848Gly)
c.2489T>G (p.Val830Gly)
c.1886T>G (p.Val629Gly)
c.2396T>G (p.Val799Gly)
c.2057T>G (p.Val686Gly)
c.2405T>G (p.Val802Gly)
c.2241+272T>G (n.2241+272T>G)
c.2205+272T>G (n.2205+272T>G)
c.2435T>G (p.Val812Gly)
c.2133+272T>G (n.2133+272T>G)
c.1680-5931T>G (n.1680-5931T>G)
c.2531T>G (p.Val844Gly)
c.2597T>G (p.Val866Gly)
c.2594T>G (p.Val865Gly)
c.2567T>G (p.Val856Gly)
c.2513T>G (p.Val838Gly)
c.2486T>G (p.Val829Gly)
c.2471T>G (p.Val824Gly)
c.2078T>G (p.Val693Gly)
c.2540T>G (p.Val847Gly)
c.2477T>G (p.Val826Gly)
c.2474T>G (p.Val825Gly)
c.2432T>G (p.Val811Gly)
c.1505T>G (p.Val502Gly)
20g.63406774A>GCA409636859KCNQ2c.2543T>C (p.Val848Ala)
c.2489T>C (p.Val830Ala)
c.1886T>C (p.Val629Ala)
c.2396T>C (p.Val799Ala)
c.2057T>C (p.Val686Ala)
c.2405T>C (p.Val802Ala)
c.2241+272T>C (n.2241+272T>C)
c.2205+272T>C (n.2205+272T>C)
c.2435T>C (p.Val812Ala)
c.2133+272T>C (n.2133+272T>C)
c.1680-5931T>C (n.1680-5931T>C)
c.2531T>C (p.Val844Ala)
c.2597T>C (p.Val866Ala)
c.2594T>C (p.Val865Ala)
c.2567T>C (p.Val856Ala)
c.2513T>C (p.Val838Ala)
c.2486T>C (p.Val829Ala)
c.2471T>C (p.Val824Ala)
c.2078T>C (p.Val693Ala)
c.2540T>C (p.Val847Ala)
c.2477T>C (p.Val826Ala)
c.2474T>C (p.Val825Ala)
c.2432T>C (p.Val811Ala)
c.1505T>C (p.Val502Ala)
20g.63406774A>TCA409636861KCNQ2c.2543T>A (p.Val848Asp)
c.2489T>A (p.Val830Asp)
c.1886T>A (p.Val629Asp)
c.2396T>A (p.Val799Asp)
c.2057T>A (p.Val686Asp)
c.2405T>A (p.Val802Asp)
c.2241+272T>A (n.2241+272T>A)
c.2205+272T>A (n.2205+272T>A)
c.2435T>A (p.Val812Asp)
c.2133+272T>A (n.2133+272T>A)
c.1680-5931T>A (n.1680-5931T>A)
c.2531T>A (p.Val844Asp)
c.2597T>A (p.Val866Asp)
c.2594T>A (p.Val865Asp)
c.2567T>A (p.Val856Asp)
c.2513T>A (p.Val838Asp)
c.2486T>A (p.Val829Asp)
c.2471T>A (p.Val824Asp)
c.2078T>A (p.Val693Asp)
c.2540T>A (p.Val847Asp)
c.2477T>A (p.Val826Asp)
c.2474T>A (p.Val825Asp)
c.2432T>A (p.Val811Asp)
c.1505T>A (p.Val502Asp)
20g.63406775C>ACA409636863KCNQ2c.2542G>T (p.Val848Phe)
c.2488G>T (p.Val830Phe)
c.1885G>T (p.Val629Phe)
c.2395G>T (p.Val799Phe)
c.2056G>T (p.Val686Phe)
c.2404G>T (p.Val802Phe)
c.2241+271G>T (n.2241+271G>T)
c.2205+271G>T (n.2205+271G>T)
c.2434G>T (p.Val812Phe)
c.2133+271G>T (n.2133+271G>T)
c.1680-5932G>T (n.1680-5932G>T)
c.2530G>T (p.Val844Phe)
c.2596G>T (p.Val866Phe)
c.2593G>T (p.Val865Phe)
c.2566G>T (p.Val856Phe)
c.2512G>T (p.Val838Phe)
c.2485G>T (p.Val829Phe)
c.2470G>T (p.Val824Phe)
c.2077G>T (p.Val693Phe)
c.2539G>T (p.Val847Phe)
c.2476G>T (p.Val826Phe)
c.2473G>T (p.Val825Phe)
c.2431G>T (p.Val811Phe)
c.1504G>T (p.Val502Phe)
20g.63406775C=CA2374774242KCNQ2c.2542G= (p.Val848=)
c.2488G= (p.Val830=)
c.1885G= (p.Val629=)
c.2395G= (p.Val799=)
c.2056G= (p.Val686=)
c.2404G= (p.Val802=)
c.2241+271G= (n.2241+271G=)
c.2205+271G= (n.2205+271G=)
c.2434G= (p.Val812=)
c.2133+271G= (n.2133+271G=)
c.1680-5932G= (n.1680-5932G=)
c.2530G= (p.Val844=)
c.2596G= (p.Val866=)
c.2593G= (p.Val865=)
c.2566G= (p.Val856=)
c.2512G= (p.Val838=)
c.2485G= (p.Val829=)
c.2470G= (p.Val824=)
c.2077G= (p.Val693=)
c.2539G= (p.Val847=)
c.2476G= (p.Val826=)
c.2473G= (p.Val825=)
c.2431G= (p.Val811=)
c.1504G= (p.Val502=)
20g.63406775C>GCA409636865KCNQ2c.2542G>C (p.Val848Leu)
c.2488G>C (p.Val830Leu)
c.1885G>C (p.Val629Leu)
c.2395G>C (p.Val799Leu)
c.2056G>C (p.Val686Leu)
c.2404G>C (p.Val802Leu)
c.2241+271G>C (n.2241+271G>C)
c.2205+271G>C (n.2205+271G>C)
c.2434G>C (p.Val812Leu)
c.2133+271G>C (n.2133+271G>C)
c.1680-5932G>C (n.1680-5932G>C)
c.2530G>C (p.Val844Leu)
c.2596G>C (p.Val866Leu)
c.2593G>C (p.Val865Leu)
c.2566G>C (p.Val856Leu)
c.2512G>C (p.Val838Leu)
c.2485G>C (p.Val829Leu)
c.2470G>C (p.Val824Leu)
c.2077G>C (p.Val693Leu)
c.2539G>C (p.Val847Leu)
c.2476G>C (p.Val826Leu)
c.2473G>C (p.Val825Leu)
c.2431G>C (p.Val811Leu)
c.1504G>C (p.Val502Leu)
20g.63406775C>TCA409636867KCNQ2c.2542G>A (p.Val848Ile)
c.2488G>A (p.Val830Ile)
c.1885G>A (p.Val629Ile)
c.2395G>A (p.Val799Ile)
c.2056G>A (p.Val686Ile)
c.2404G>A (p.Val802Ile)
c.2241+271G>A (n.2241+271G>A)
c.2205+271G>A (n.2205+271G>A)
c.2434G>A (p.Val812Ile)
c.2133+271G>A (n.2133+271G>A)
c.1680-5932G>A (n.1680-5932G>A)
c.2530G>A (p.Val844Ile)
c.2596G>A (p.Val866Ile)
c.2593G>A (p.Val865Ile)
c.2566G>A (p.Val856Ile)
c.2512G>A (p.Val838Ile)
c.2485G>A (p.Val829Ile)
c.2470G>A (p.Val824Ile)
c.2077G>A (p.Val693Ile)
c.2539G>A (p.Val847Ile)
c.2476G>A (p.Val826Ile)
c.2473G>A (p.Val825Ile)
c.2431G>A (p.Val811Ile)
c.1504G>A (p.Val502Ile)
 dbSNP gnomAD v2 gnomAD v4
20g.63406775_63406777delinsCTTCA2374774241KCNQ2c.2540_2542delinsAAG (p.Lys847=)
c.2486_2488delinsAAG (p.Lys829=)
c.1883_1885delinsAAG (p.Lys628=)
c.2393_2395delinsAAG (p.Lys798=)
c.2054_2056delinsAAG (p.Lys685=)
c.2402_2404delinsAAG (p.Lys801=)
c.2241+269_2241+271delinsAAG (n.2241+269_2241+271delinsAAG)
c.2205+269_2205+271delinsAAG (n.2205+269_2205+271delinsAAG)
c.2432_2434delinsAAG (p.Lys811=)
c.2133+269_2133+271delinsAAG (n.2133+269_2133+271delinsAAG)
c.1680-5934_1680-5932delinsAAG (n.1680-5934_1680-5932delinsAAG)
c.2528_2530delinsAAG (p.Lys843=)
c.2594_2596delinsAAG (p.Lys865=)
c.2591_2593delinsAAG (p.Lys864=)
c.2564_2566delinsAAG (p.Lys855=)
c.2510_2512delinsAAG (p.Lys837=)
c.2483_2485delinsAAG (p.Lys828=)
c.2468_2470delinsAAG (p.Lys823=)
c.2075_2077delinsAAG (p.Lys692=)
c.2537_2539delinsAAG (p.Lys846=)
c.2474_2476delinsAAG (p.Lys825=)
c.2471_2473delinsAAG (p.Lys824=)
c.2429_2431delinsAAG (p.Lys810=)
c.1502_1504delinsAAG (p.Lys501=)
20g.63406776T>ACA409636870KCNQ2c.2541A>T (p.Lys847Asn)
c.2487A>T (p.Lys829Asn)
c.1884A>T (p.Lys628Asn)
c.2394A>T (p.Lys798Asn)
c.2055A>T (p.Lys685Asn)
c.2403A>T (p.Lys801Asn)
c.2241+270A>T (n.2241+270A>T)
c.2205+270A>T (n.2205+270A>T)
c.2433A>T (p.Lys811Asn)
c.2133+270A>T (n.2133+270A>T)
c.1680-5933A>T (n.1680-5933A>T)
c.2529A>T (p.Lys843Asn)
c.2595A>T (p.Lys865Asn)
c.2592A>T (p.Lys864Asn)
c.2565A>T (p.Lys855Asn)
c.2511A>T (p.Lys837Asn)
c.2484A>T (p.Lys828Asn)
c.2469A>T (p.Lys823Asn)
c.2076A>T (p.Lys692Asn)
c.2538A>T (p.Lys846Asn)
c.2475A>T (p.Lys825Asn)
c.2472A>T (p.Lys824Asn)
c.2430A>T (p.Lys810Asn)
c.1503A>T (p.Lys501Asn)

Number of alleles fetched