Chr Mutation (hg38) CAid Gene Transcript Linkouts
20g.63406697_63406727delinsCCGAGCGTGGCGGGGGCCCGCACGGGGTACACA2374774201KCNQ2c.2590_2620delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys864=)
c.2536_2566delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys846=)
c.1933_1963delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys645=)
c.2443_2473delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys815=)
c.2104_2134delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys702=)
c.2452_2482delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys818=)
c.2241+319_2241+349delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (n.2241+319_2241+349delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG)
c.2205+319_2205+349delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (n.2205+319_2205+349delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG)
c.2482_2512delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys828=)
c.2133+319_2133+349delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (n.2133+319_2133+349delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG)
c.1680-5884_1680-5854delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (n.1680-5884_1680-5854delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG)
c.2578_2608delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys860=)
c.2644_2674delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys882=)
c.2641_2671delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys881=)
c.2614_2644delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys872=)
c.2560_2590delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys854=)
c.2533_2563delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys845=)
c.2518_2548delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys840=)
c.2125_2155delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys709=)
c.2587_2617delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys863=)
c.2524_2554delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys842=)
c.2521_2551delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys841=)
c.2479_2509delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys827=)
c.1552_1582delinsTGTACCCCGTGCGGGCCCCCGCCACGCTCGG (p.Cys518=)
20g.63406698_63406727delCA2374774202KCNQ2c.2590_2619del (p.Cys864_Ser873del)
c.2536_2565del (p.Cys846_Ser855del)
c.1933_1962del (p.Cys645_Ser654del)
c.2443_2472del (p.Cys815_Ser824del)
c.2104_2133del (p.Cys702_Ser711del)
c.2452_2481del (p.Cys818_Ser827del)
c.2241+319_2241+348del (n.2241+319_2241+348del)
c.2205+319_2205+348del (n.2205+319_2205+348del)
c.2482_2511del (p.Cys828_Ser837del)
c.2133+319_2133+348del (n.2133+319_2133+348del)
c.1680-5884_1680-5855del (n.1680-5884_1680-5855del)
c.2578_2607del (p.Cys860_Ser869del)
c.2644_2673del (p.Cys882_Ser891del)
c.2641_2670del (p.Cys881_Ser890del)
c.2614_2643del (p.Cys872_Ser881del)
c.2560_2589del (p.Cys854_Ser863del)
c.2533_2562del (p.Cys845_Ser854del)
c.2518_2547del (p.Cys840_Ser849del)
c.2125_2154del (p.Cys709_Ser718del)
c.2587_2616del (p.Cys863_Ser872del)
c.2524_2553del (p.Cys842_Ser851del)
c.2521_2550del (p.Cys841_Ser850del)
c.2479_2508del (p.Cys827_Ser836del)
c.1552_1581del (p.Cys518_Ser527del)
 ClinVar dbSNP
20g.63406706G>ACA409636558KCNQ2c.2611C>T (p.Pro871Ser)
c.2557C>T (p.Pro853Ser)
c.1954C>T (p.Pro652Ser)
c.2464C>T (p.Pro822Ser)
c.2125C>T (p.Pro709Ser)
c.2473C>T (p.Pro825Ser)
c.2241+340C>T (n.2241+340C>T)
c.2205+340C>T (n.2205+340C>T)
c.2503C>T (p.Pro835Ser)
c.2133+340C>T (n.2133+340C>T)
c.1680-5863C>T (n.1680-5863C>T)
c.2599C>T (p.Pro867Ser)
c.2665C>T (p.Pro889Ser)
c.2662C>T (p.Pro888Ser)
c.2635C>T (p.Pro879Ser)
c.2581C>T (p.Pro861Ser)
c.2554C>T (p.Pro852Ser)
c.2539C>T (p.Pro847Ser)
c.2146C>T (p.Pro716Ser)
c.2608C>T (p.Pro870Ser)
c.2545C>T (p.Pro849Ser)
c.2542C>T (p.Pro848Ser)
c.2500C>T (p.Pro834Ser)
c.1573C>T (p.Pro525Ser)
 gnomAD v4
20g.63406706G>CCA409636560KCNQ2c.2611C>G (p.Pro871Ala)
c.2557C>G (p.Pro853Ala)
c.1954C>G (p.Pro652Ala)
c.2464C>G (p.Pro822Ala)
c.2125C>G (p.Pro709Ala)
c.2473C>G (p.Pro825Ala)
c.2241+340C>G (n.2241+340C>G)
c.2205+340C>G (n.2205+340C>G)
c.2503C>G (p.Pro835Ala)
c.2133+340C>G (n.2133+340C>G)
c.1680-5863C>G (n.1680-5863C>G)
c.2599C>G (p.Pro867Ala)
c.2665C>G (p.Pro889Ala)
c.2662C>G (p.Pro888Ala)
c.2635C>G (p.Pro879Ala)
c.2581C>G (p.Pro861Ala)
c.2554C>G (p.Pro852Ala)
c.2539C>G (p.Pro847Ala)
c.2146C>G (p.Pro716Ala)
c.2608C>G (p.Pro870Ala)
c.2545C>G (p.Pro849Ala)
c.2542C>G (p.Pro848Ala)
c.2500C>G (p.Pro834Ala)
c.1573C>G (p.Pro525Ala)
20g.63406706G>TCA409636562KCNQ2c.2611C>A (p.Pro871Thr)
c.2557C>A (p.Pro853Thr)
c.1954C>A (p.Pro652Thr)
c.2464C>A (p.Pro822Thr)
c.2125C>A (p.Pro709Thr)
c.2473C>A (p.Pro825Thr)
c.2241+340C>A (n.2241+340C>A)
c.2205+340C>A (n.2205+340C>A)
c.2503C>A (p.Pro835Thr)
c.2133+340C>A (n.2133+340C>A)
c.1680-5863C>A (n.1680-5863C>A)
c.2599C>A (p.Pro867Thr)
c.2665C>A (p.Pro889Thr)
c.2662C>A (p.Pro888Thr)
c.2635C>A (p.Pro879Thr)
c.2581C>A (p.Pro861Thr)
c.2554C>A (p.Pro852Thr)
c.2539C>A (p.Pro847Thr)
c.2146C>A (p.Pro716Thr)
c.2608C>A (p.Pro870Thr)
c.2545C>A (p.Pro849Thr)
c.2542C>A (p.Pro848Thr)
c.2500C>A (p.Pro834Thr)
c.1573C>A (p.Pro525Thr)
20g.63406706_63406707insTACCCGCCA2499225798KCNQ2c.2610_2611insGCGGGTA (p.Pro871AlafsTer14)
c.2556_2557insGCGGGTA (p.Pro853AlafsTer14)
c.1953_1954insGCGGGTA (p.Pro652AlafsTer14)
c.2463_2464insGCGGGTA (p.Pro822AlafsTer14)
c.2124_2125insGCGGGTA (p.Pro709AlafsTer14)
c.2472_2473insGCGGGTA (p.Pro825AlafsTer14)
c.2241+339_2241+340insGCGGGTA (n.2241+339_2241+340insGCGGGTA)
c.2205+339_2205+340insGCGGGTA (n.2205+339_2205+340insGCGGGTA)
c.2502_2503insGCGGGTA (p.Pro835AlafsTer14)
c.2133+339_2133+340insGCGGGTA (n.2133+339_2133+340insGCGGGTA)
c.1680-5864_1680-5863insGCGGGTA (n.1680-5864_1680-5863insGCGGGTA)
c.2598_2599insGCGGGTA (p.Pro867AlafsTer14)
c.2664_2665insGCGGGTA (p.Pro889AlafsTer14)
c.2661_2662insGCGGGTA (p.Pro888AlafsTer14)
c.2634_2635insGCGGGTA (p.Pro879AlafsTer14)
c.2580_2581insGCGGGTA (p.Pro861AlafsTer14)
c.2553_2554insGCGGGTA (p.Pro852AlafsTer14)
c.2538_2539insGCGGGTA (p.Pro847AlafsTer14)
c.2145_2146insGCGGGTA (p.Pro716AlafsTer14)
c.2607_2608insGCGGGTA (p.Pro870AlafsTer14)
c.2544_2545insGCGGGTA (p.Pro849AlafsTer14)
c.2541_2542insGCGGGTA (p.Pro848AlafsTer14)
c.2499_2500insGCGGGTA (p.Pro834AlafsTer14)
c.1572_1573insGCGGGTA (p.Pro525AlafsTer14)
 dbSNP
20g.63406707C>ACA511339207KCNQ2c.2610G>T (p.Pro870=)
c.2556G>T (p.Pro852=)
c.1953G>T (p.Pro651=)
c.2463G>T (p.Pro821=)
c.2124G>T (p.Pro708=)
c.2472G>T (p.Pro824=)
c.2241+339G>T (n.2241+339G>T)
c.2205+339G>T (n.2205+339G>T)
c.2502G>T (p.Pro834=)
c.2133+339G>T (n.2133+339G>T)
c.1680-5864G>T (n.1680-5864G>T)
c.2598G>T (p.Pro866=)
c.2664G>T (p.Pro888=)
c.2661G>T (p.Pro887=)
c.2634G>T (p.Pro878=)
c.2580G>T (p.Pro860=)
c.2553G>T (p.Pro851=)
c.2538G>T (p.Pro846=)
c.2145G>T (p.Pro715=)
c.2607G>T (p.Pro869=)
c.2544G>T (p.Pro848=)
c.2541G>T (p.Pro847=)
c.2499G>T (p.Pro833=)
c.1572G>T (p.Pro524=)
 gnomAD v4
20g.63406707C=CA2374774208KCNQ2c.2610G= (p.Pro870=)
c.2556G= (p.Pro852=)
c.1953G= (p.Pro651=)
c.2463G= (p.Pro821=)
c.2124G= (p.Pro708=)
c.2472G= (p.Pro824=)
c.2241+339G= (n.2241+339G=)
c.2205+339G= (n.2205+339G=)
c.2502G= (p.Pro834=)
c.2133+339G= (n.2133+339G=)
c.1680-5864G= (n.1680-5864G=)
c.2598G= (p.Pro866=)
c.2664G= (p.Pro888=)
c.2661G= (p.Pro887=)
c.2634G= (p.Pro878=)
c.2580G= (p.Pro860=)
c.2553G= (p.Pro851=)
c.2538G= (p.Pro846=)
c.2145G= (p.Pro715=)
c.2607G= (p.Pro869=)
c.2544G= (p.Pro848=)
c.2541G= (p.Pro847=)
c.2499G= (p.Pro833=)
c.1572G= (p.Pro524=)
20g.63406707C>GCA511339208KCNQ2c.2610G>C (p.Pro870=)
c.2556G>C (p.Pro852=)
c.1953G>C (p.Pro651=)
c.2463G>C (p.Pro821=)
c.2124G>C (p.Pro708=)
c.2472G>C (p.Pro824=)
c.2241+339G>C (n.2241+339G>C)
c.2205+339G>C (n.2205+339G>C)
c.2502G>C (p.Pro834=)
c.2133+339G>C (n.2133+339G>C)
c.1680-5864G>C (n.1680-5864G>C)
c.2598G>C (p.Pro866=)
c.2664G>C (p.Pro888=)
c.2661G>C (p.Pro887=)
c.2634G>C (p.Pro878=)
c.2580G>C (p.Pro860=)
c.2553G>C (p.Pro851=)
c.2538G>C (p.Pro846=)
c.2145G>C (p.Pro715=)
c.2607G>C (p.Pro869=)
c.2544G>C (p.Pro848=)
c.2541G>C (p.Pro847=)
c.2499G>C (p.Pro833=)
c.1572G>C (p.Pro524=)
 gnomAD v4
20g.63406707C>TCA291821KCNQ2c.2610G>A (p.Pro870=)
c.2556G>A (p.Pro852=)
c.1953G>A (p.Pro651=)
c.2463G>A (p.Pro821=)
c.2124G>A (p.Pro708=)
c.2472G>A (p.Pro824=)
c.2241+339G>A (n.2241+339G>A)
c.2205+339G>A (n.2205+339G>A)
c.2502G>A (p.Pro834=)
c.2133+339G>A (n.2133+339G>A)
c.1680-5864G>A (n.1680-5864G>A)
c.2598G>A (p.Pro866=)
c.2664G>A (p.Pro888=)
c.2661G>A (p.Pro887=)
c.2634G>A (p.Pro878=)
c.2580G>A (p.Pro860=)
c.2553G>A (p.Pro851=)
c.2538G>A (p.Pro846=)
c.2145G>A (p.Pro715=)
c.2607G>A (p.Pro869=)
c.2544G>A (p.Pro848=)
c.2541G>A (p.Pro847=)
c.2499G>A (p.Pro833=)
c.1572G>A (p.Pro524=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63406707_63406708delinsCGCA2374774209KCNQ2c.2609_2610delinsCG (p.Pro870=)
c.2555_2556delinsCG (p.Pro852=)
c.1952_1953delinsCG (p.Pro651=)
c.2462_2463delinsCG (p.Pro821=)
c.2123_2124delinsCG (p.Pro708=)
c.2471_2472delinsCG (p.Pro824=)
c.2241+338_2241+339delinsCG (n.2241+338_2241+339delinsCG)
c.2205+338_2205+339delinsCG (n.2205+338_2205+339delinsCG)
c.2501_2502delinsCG (p.Pro834=)
c.2133+338_2133+339delinsCG (n.2133+338_2133+339delinsCG)
c.1680-5865_1680-5864delinsCG (n.1680-5865_1680-5864delinsCG)
c.2597_2598delinsCG (p.Pro866=)
c.2663_2664delinsCG (p.Pro888=)
c.2660_2661delinsCG (p.Pro887=)
c.2633_2634delinsCG (p.Pro878=)
c.2579_2580delinsCG (p.Pro860=)
c.2552_2553delinsCG (p.Pro851=)
c.2537_2538delinsCG (p.Pro846=)
c.2144_2145delinsCG (p.Pro715=)
c.2606_2607delinsCG (p.Pro869=)
c.2543_2544delinsCG (p.Pro848=)
c.2540_2541delinsCG (p.Pro847=)
c.2498_2499delinsCG (p.Pro833=)
c.1571_1572delinsCG (p.Pro524=)
20g.63406708G>ACA315536KCNQ2c.2609C>T (p.Pro870Leu)
c.2555C>T (p.Pro852Leu)
c.1952C>T (p.Pro651Leu)
c.2462C>T (p.Pro821Leu)
c.2123C>T (p.Pro708Leu)
c.2471C>T (p.Pro824Leu)
c.2241+338C>T (n.2241+338C>T)
c.2205+338C>T (n.2205+338C>T)
c.2501C>T (p.Pro834Leu)
c.2133+338C>T (n.2133+338C>T)
c.1680-5865C>T (n.1680-5865C>T)
c.2597C>T (p.Pro866Leu)
c.2663C>T (p.Pro888Leu)
c.2660C>T (p.Pro887Leu)
c.2633C>T (p.Pro878Leu)
c.2579C>T (p.Pro860Leu)
c.2552C>T (p.Pro851Leu)
c.2537C>T (p.Pro846Leu)
c.2144C>T (p.Pro715Leu)
c.2606C>T (p.Pro869Leu)
c.2543C>T (p.Pro848Leu)
c.2540C>T (p.Pro847Leu)
c.2498C>T (p.Pro833Leu)
c.1571C>T (p.Pro524Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406708G>CCA409636564KCNQ2c.2609C>G (p.Pro870Arg)
c.2555C>G (p.Pro852Arg)
c.1952C>G (p.Pro651Arg)
c.2462C>G (p.Pro821Arg)
c.2123C>G (p.Pro708Arg)
c.2471C>G (p.Pro824Arg)
c.2241+338C>G (n.2241+338C>G)
c.2205+338C>G (n.2205+338C>G)
c.2501C>G (p.Pro834Arg)
c.2133+338C>G (n.2133+338C>G)
c.1680-5865C>G (n.1680-5865C>G)
c.2597C>G (p.Pro866Arg)
c.2663C>G (p.Pro888Arg)
c.2660C>G (p.Pro887Arg)
c.2633C>G (p.Pro878Arg)
c.2579C>G (p.Pro860Arg)
c.2552C>G (p.Pro851Arg)
c.2537C>G (p.Pro846Arg)
c.2144C>G (p.Pro715Arg)
c.2606C>G (p.Pro869Arg)
c.2543C>G (p.Pro848Arg)
c.2540C>G (p.Pro847Arg)
c.2498C>G (p.Pro833Arg)
c.1571C>G (p.Pro524Arg)
20g.63406708G=CA2374774210KCNQ2c.2609C= (p.Pro870=)
c.2555C= (p.Pro852=)
c.1952C= (p.Pro651=)
c.2462C= (p.Pro821=)
c.2123C= (p.Pro708=)
c.2471C= (p.Pro824=)
c.2241+338C= (n.2241+338C=)
c.2205+338C= (n.2205+338C=)
c.2501C= (p.Pro834=)
c.2133+338C= (n.2133+338C=)
c.1680-5865C= (n.1680-5865C=)
c.2597C= (p.Pro866=)
c.2663C= (p.Pro888=)
c.2660C= (p.Pro887=)
c.2633C= (p.Pro878=)
c.2579C= (p.Pro860=)
c.2552C= (p.Pro851=)
c.2537C= (p.Pro846=)
c.2144C= (p.Pro715=)
c.2606C= (p.Pro869=)
c.2543C= (p.Pro848=)
c.2540C= (p.Pro847=)
c.2498C= (p.Pro833=)
c.1571C= (p.Pro524=)
20g.63406708G>TCA409636566KCNQ2c.2609C>A (p.Pro870Gln)
c.2555C>A (p.Pro852Gln)
c.1952C>A (p.Pro651Gln)
c.2462C>A (p.Pro821Gln)
c.2123C>A (p.Pro708Gln)
c.2471C>A (p.Pro824Gln)
c.2241+338C>A (n.2241+338C>A)
c.2205+338C>A (n.2205+338C>A)
c.2501C>A (p.Pro834Gln)
c.2133+338C>A (n.2133+338C>A)
c.1680-5865C>A (n.1680-5865C>A)
c.2597C>A (p.Pro866Gln)
c.2663C>A (p.Pro888Gln)
c.2660C>A (p.Pro887Gln)
c.2633C>A (p.Pro878Gln)
c.2579C>A (p.Pro860Gln)
c.2552C>A (p.Pro851Gln)
c.2537C>A (p.Pro846Gln)
c.2144C>A (p.Pro715Gln)
c.2606C>A (p.Pro869Gln)
c.2543C>A (p.Pro848Gln)
c.2540C>A (p.Pro847Gln)
c.2498C>A (p.Pro833Gln)
c.1571C>A (p.Pro524Gln)
 gnomAD v4
20g.63406712dupCA2580098388KCNQ2c.2609dup (p.Pro871AlafsTer12)
c.2555dup (p.Pro853AlafsTer12)
c.1952dup (p.Pro652AlafsTer12)
c.2462dup (p.Pro822AlafsTer12)
c.2123dup (p.Pro709AlafsTer12)
c.2471dup (p.Pro825AlafsTer12)
c.2241+338dup (n.2241+338dup)
c.2205+338dup (n.2205+338dup)
c.2501dup (p.Pro835AlafsTer12)
c.2133+338dup (n.2133+338dup)
c.1680-5865dup (n.1680-5865dup)
c.2597dup (p.Pro867AlafsTer12)
c.2663dup (p.Pro889AlafsTer12)
c.2660dup (p.Pro888AlafsTer12)
c.2633dup (p.Pro879AlafsTer12)
c.2579dup (p.Pro861AlafsTer12)
c.2552dup (p.Pro852AlafsTer12)
c.2537dup (p.Pro847AlafsTer12)
c.2144dup (p.Pro716AlafsTer12)
c.2606dup (p.Pro870AlafsTer12)
c.2543dup (p.Pro849AlafsTer12)
c.2540dup (p.Pro848AlafsTer12)
c.2498dup (p.Pro834AlafsTer12)
c.1571dup (p.Pro525AlafsTer12)
 ClinVar
20g.63406712delCA16620959KCNQ2c.2609del (p.Pro870ArgfsTer?)
c.2555del (p.Pro852ArgfsTer?)
c.1952del (p.Pro651ArgfsTer?)
c.2462del (p.Pro821ArgfsTer?)
c.2123del (p.Pro708ArgfsTer?)
c.2471del (p.Pro824ArgfsTer?)
c.2241+338del (n.2241+338del)
c.2205+338del (n.2205+338del)
c.2501del (p.Pro834ArgfsTer?)
c.2133+338del (n.2133+338del)
c.1680-5865del (n.1680-5865del)
c.2597del (p.Pro866ArgfsTer?)
c.2663del (p.Pro888ArgfsTer?)
c.2660del (p.Pro887ArgfsTer?)
c.2633del (p.Pro878ArgfsTer?)
c.2579del (p.Pro860ArgfsTer?)
c.2552del (p.Pro851ArgfsTer?)
c.2537del (p.Pro846ArgfsTer?)
c.2144del (p.Pro715ArgfsTer?)
c.2606del (p.Pro869ArgfsTer?)
c.2543del (p.Pro848ArgfsTer?)
c.2540del (p.Pro847ArgfsTer?)
c.2498del (p.Pro833ArgfsTer?)
c.1571del (p.Pro524ArgfsTer?)
 ClinVar dbSNP gnomAD v4
20g.63406708_63406709insCCAATCCA2557562509KCNQ2c.2608_2609insGATTGG (p.Pro870delinsArgLeuAla)
c.2554_2555insGATTGG (p.Pro852delinsArgLeuAla)
c.1951_1952insGATTGG (p.Pro651delinsArgLeuAla)
c.2461_2462insGATTGG (p.Pro821delinsArgLeuAla)
c.2122_2123insGATTGG (p.Pro708delinsArgLeuAla)
c.2470_2471insGATTGG (p.Pro824delinsArgLeuAla)
c.2241+337_2241+338insGATTGG (n.2241+337_2241+338insGATTGG)
c.2205+337_2205+338insGATTGG (n.2205+337_2205+338insGATTGG)
c.2500_2501insGATTGG (p.Pro834delinsArgLeuAla)
c.2133+337_2133+338insGATTGG (n.2133+337_2133+338insGATTGG)
c.1680-5866_1680-5865insGATTGG (n.1680-5866_1680-5865insGATTGG)
c.2596_2597insGATTGG (p.Pro866delinsArgLeuAla)
c.2662_2663insGATTGG (p.Pro888delinsArgLeuAla)
c.2659_2660insGATTGG (p.Pro887delinsArgLeuAla)
c.2632_2633insGATTGG (p.Pro878delinsArgLeuAla)
c.2578_2579insGATTGG (p.Pro860delinsArgLeuAla)
c.2551_2552insGATTGG (p.Pro851delinsArgLeuAla)
c.2536_2537insGATTGG (p.Pro846delinsArgLeuAla)
c.2143_2144insGATTGG (p.Pro715delinsArgLeuAla)
c.2605_2606insGATTGG (p.Pro869delinsArgLeuAla)
c.2542_2543insGATTGG (p.Pro848delinsArgLeuAla)
c.2539_2540insGATTGG (p.Pro847delinsArgLeuAla)
c.2497_2498insGATTGG (p.Pro833delinsArgLeuAla)
c.1570_1571insGATTGG (p.Pro524delinsArgLeuAla)
20g.63406709G>ACA409636569KCNQ2c.2608C>T (p.Pro870Ser)
c.2554C>T (p.Pro852Ser)
c.1951C>T (p.Pro651Ser)
c.2461C>T (p.Pro821Ser)
c.2122C>T (p.Pro708Ser)
c.2470C>T (p.Pro824Ser)
c.2241+337C>T (n.2241+337C>T)
c.2205+337C>T (n.2205+337C>T)
c.2500C>T (p.Pro834Ser)
c.2133+337C>T (n.2133+337C>T)
c.1680-5866C>T (n.1680-5866C>T)
c.2596C>T (p.Pro866Ser)
c.2662C>T (p.Pro888Ser)
c.2659C>T (p.Pro887Ser)
c.2632C>T (p.Pro878Ser)
c.2578C>T (p.Pro860Ser)
c.2551C>T (p.Pro851Ser)
c.2536C>T (p.Pro846Ser)
c.2143C>T (p.Pro715Ser)
c.2605C>T (p.Pro869Ser)
c.2542C>T (p.Pro848Ser)
c.2539C>T (p.Pro847Ser)
c.2497C>T (p.Pro833Ser)
c.1570C>T (p.Pro524Ser)
20g.63406709G>CCA409636571KCNQ2c.2608C>G (p.Pro870Ala)
c.2554C>G (p.Pro852Ala)
c.1951C>G (p.Pro651Ala)
c.2461C>G (p.Pro821Ala)
c.2122C>G (p.Pro708Ala)
c.2470C>G (p.Pro824Ala)
c.2241+337C>G (n.2241+337C>G)
c.2205+337C>G (n.2205+337C>G)
c.2500C>G (p.Pro834Ala)
c.2133+337C>G (n.2133+337C>G)
c.1680-5866C>G (n.1680-5866C>G)
c.2596C>G (p.Pro866Ala)
c.2662C>G (p.Pro888Ala)
c.2659C>G (p.Pro887Ala)
c.2632C>G (p.Pro878Ala)
c.2578C>G (p.Pro860Ala)
c.2551C>G (p.Pro851Ala)
c.2536C>G (p.Pro846Ala)
c.2143C>G (p.Pro715Ala)
c.2605C>G (p.Pro869Ala)
c.2542C>G (p.Pro848Ala)
c.2539C>G (p.Pro847Ala)
c.2497C>G (p.Pro833Ala)
c.1570C>G (p.Pro524Ala)
 dbSNP gnomAD v2 gnomAD v4
20g.63406709G=CA2374774211KCNQ2c.2608C= (p.Pro870=)
c.2554C= (p.Pro852=)
c.1951C= (p.Pro651=)
c.2461C= (p.Pro821=)
c.2122C= (p.Pro708=)
c.2470C= (p.Pro824=)
c.2241+337C= (n.2241+337C=)
c.2205+337C= (n.2205+337C=)
c.2500C= (p.Pro834=)
c.2133+337C= (n.2133+337C=)
c.1680-5866C= (n.1680-5866C=)
c.2596C= (p.Pro866=)
c.2662C= (p.Pro888=)
c.2659C= (p.Pro887=)
c.2632C= (p.Pro878=)
c.2578C= (p.Pro860=)
c.2551C= (p.Pro851=)
c.2536C= (p.Pro846=)
c.2143C= (p.Pro715=)
c.2605C= (p.Pro869=)
c.2542C= (p.Pro848=)
c.2539C= (p.Pro847=)
c.2497C= (p.Pro833=)
c.1570C= (p.Pro524=)
20g.63406709G>TCA409636573KCNQ2c.2608C>A (p.Pro870Thr)
c.2554C>A (p.Pro852Thr)
c.1951C>A (p.Pro651Thr)
c.2461C>A (p.Pro821Thr)
c.2122C>A (p.Pro708Thr)
c.2470C>A (p.Pro824Thr)
c.2241+337C>A (n.2241+337C>A)
c.2205+337C>A (n.2205+337C>A)
c.2500C>A (p.Pro834Thr)
c.2133+337C>A (n.2133+337C>A)
c.1680-5866C>A (n.1680-5866C>A)
c.2596C>A (p.Pro866Thr)
c.2662C>A (p.Pro888Thr)
c.2659C>A (p.Pro887Thr)
c.2632C>A (p.Pro878Thr)
c.2578C>A (p.Pro860Thr)
c.2551C>A (p.Pro851Thr)
c.2536C>A (p.Pro846Thr)
c.2143C>A (p.Pro715Thr)
c.2605C>A (p.Pro869Thr)
c.2542C>A (p.Pro848Thr)
c.2539C>A (p.Pro847Thr)
c.2497C>A (p.Pro833Thr)
c.1570C>A (p.Pro524Thr)
 gnomAD v4
20g.63406710G>ACA511339209KCNQ2c.2607C>T (p.Pro869=)
c.2553C>T (p.Pro851=)
c.1950C>T (p.Pro650=)
c.2460C>T (p.Pro820=)
c.2121C>T (p.Pro707=)
c.2469C>T (p.Pro823=)
c.2241+336C>T (n.2241+336C>T)
c.2205+336C>T (n.2205+336C>T)
c.2499C>T (p.Pro833=)
c.2133+336C>T (n.2133+336C>T)
c.1680-5867C>T (n.1680-5867C>T)
c.2595C>T (p.Pro865=)
c.2661C>T (p.Pro887=)
c.2658C>T (p.Pro886=)
c.2631C>T (p.Pro877=)
c.2577C>T (p.Pro859=)
c.2550C>T (p.Pro850=)
c.2535C>T (p.Pro845=)
c.2142C>T (p.Pro714=)
c.2604C>T (p.Pro868=)
c.2541C>T (p.Pro847=)
c.2538C>T (p.Pro846=)
c.2496C>T (p.Pro832=)
c.1569C>T (p.Pro523=)
 ClinVar dbSNP
20g.63406710G>CCA511339210KCNQ2c.2607C>G (p.Pro869=)
c.2553C>G (p.Pro851=)
c.1950C>G (p.Pro650=)
c.2460C>G (p.Pro820=)
c.2121C>G (p.Pro707=)
c.2469C>G (p.Pro823=)
c.2241+336C>G (n.2241+336C>G)
c.2205+336C>G (n.2205+336C>G)
c.2499C>G (p.Pro833=)
c.2133+336C>G (n.2133+336C>G)
c.1680-5867C>G (n.1680-5867C>G)
c.2595C>G (p.Pro865=)
c.2661C>G (p.Pro887=)
c.2658C>G (p.Pro886=)
c.2631C>G (p.Pro877=)
c.2577C>G (p.Pro859=)
c.2550C>G (p.Pro850=)
c.2535C>G (p.Pro845=)
c.2142C>G (p.Pro714=)
c.2604C>G (p.Pro868=)
c.2541C>G (p.Pro847=)
c.2538C>G (p.Pro846=)
c.2496C>G (p.Pro832=)
c.1569C>G (p.Pro523=)
20g.63406710G=CA2374774212KCNQ2c.2607C= (p.Pro869=)
c.2553C= (p.Pro851=)
c.1950C= (p.Pro650=)
c.2460C= (p.Pro820=)
c.2121C= (p.Pro707=)
c.2469C= (p.Pro823=)
c.2241+336C= (n.2241+336C=)
c.2205+336C= (n.2205+336C=)
c.2499C= (p.Pro833=)
c.2133+336C= (n.2133+336C=)
c.1680-5867C= (n.1680-5867C=)
c.2595C= (p.Pro865=)
c.2661C= (p.Pro887=)
c.2658C= (p.Pro886=)
c.2631C= (p.Pro877=)
c.2577C= (p.Pro859=)
c.2550C= (p.Pro850=)
c.2535C= (p.Pro845=)
c.2142C= (p.Pro714=)
c.2604C= (p.Pro868=)
c.2541C= (p.Pro847=)
c.2538C= (p.Pro846=)
c.2496C= (p.Pro832=)
c.1569C= (p.Pro523=)
20g.63406710G>TCA511339211KCNQ2c.2607C>A (p.Pro869=)
c.2553C>A (p.Pro851=)
c.1950C>A (p.Pro650=)
c.2460C>A (p.Pro820=)
c.2121C>A (p.Pro707=)
c.2469C>A (p.Pro823=)
c.2241+336C>A (n.2241+336C>A)
c.2205+336C>A (n.2205+336C>A)
c.2499C>A (p.Pro833=)
c.2133+336C>A (n.2133+336C>A)
c.1680-5867C>A (n.1680-5867C>A)
c.2595C>A (p.Pro865=)
c.2661C>A (p.Pro887=)
c.2658C>A (p.Pro886=)
c.2631C>A (p.Pro877=)
c.2577C>A (p.Pro859=)
c.2550C>A (p.Pro850=)
c.2535C>A (p.Pro845=)
c.2142C>A (p.Pro714=)
c.2604C>A (p.Pro868=)
c.2541C>A (p.Pro847=)
c.2538C>A (p.Pro846=)
c.2496C>A (p.Pro832=)
c.1569C>A (p.Pro523=)
 gnomAD v4
20g.63406710_63406711insAGGAGCGCTCACTGAAGAAGCCGTCCGTCACGATGTCGGAAAGCGCCTGAGAGTTCATCTCATAGGTCGCCGACA2551653830KCNQ2c.2606_2607insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro870ArgfsTer6)
c.2552_2553insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro852ArgfsTer6)
c.1949_1950insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro651ArgfsTer6)
c.2459_2460insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro821ArgfsTer6)
c.2120_2121insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro708ArgfsTer6)
c.2468_2469insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro824ArgfsTer6)
c.2241+335_2241+336insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (n.2241+335_2241+336insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT)
c.2205+335_2205+336insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (n.2205+335_2205+336insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT)
c.2498_2499insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro834ArgfsTer6)
c.2133+335_2133+336insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (n.2133+335_2133+336insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT)
c.1680-5868_1680-5867insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (n.1680-5868_1680-5867insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT)
c.2594_2595insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro866ArgfsTer6)
c.2660_2661insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro888ArgfsTer6)
c.2657_2658insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro887ArgfsTer6)
c.2630_2631insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro878ArgfsTer6)
c.2576_2577insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro860ArgfsTer6)
c.2549_2550insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro851ArgfsTer6)
c.2534_2535insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro846ArgfsTer6)
c.2141_2142insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro715ArgfsTer6)
c.2603_2604insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro869ArgfsTer6)
c.2540_2541insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro848ArgfsTer6)
c.2537_2538insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro847ArgfsTer6)
c.2495_2496insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro833ArgfsTer6)
c.1568_1569insTCGGCGACCTATGAGATGAACTCTCAGGCGCTTTCCGACATCGTGACGGACGGCTTCTTCAGTGAGCGCTCCT (p.Pro524ArgfsTer6)
20g.63406711G>ACA409636574KCNQ2c.2606C>T (p.Pro869Leu)
c.2552C>T (p.Pro851Leu)
c.1949C>T (p.Pro650Leu)
c.2459C>T (p.Pro820Leu)
c.2120C>T (p.Pro707Leu)
c.2468C>T (p.Pro823Leu)
c.2241+335C>T (n.2241+335C>T)
c.2205+335C>T (n.2205+335C>T)
c.2498C>T (p.Pro833Leu)
c.2133+335C>T (n.2133+335C>T)
c.1680-5868C>T (n.1680-5868C>T)
c.2594C>T (p.Pro865Leu)
c.2660C>T (p.Pro887Leu)
c.2657C>T (p.Pro886Leu)
c.2630C>T (p.Pro877Leu)
c.2576C>T (p.Pro859Leu)
c.2549C>T (p.Pro850Leu)
c.2534C>T (p.Pro845Leu)
c.2141C>T (p.Pro714Leu)
c.2603C>T (p.Pro868Leu)
c.2540C>T (p.Pro847Leu)
c.2537C>T (p.Pro846Leu)
c.2495C>T (p.Pro832Leu)
c.1568C>T (p.Pro523Leu)
20g.63406711G>CCA409636575KCNQ2c.2606C>G (p.Pro869Arg)
c.2552C>G (p.Pro851Arg)
c.1949C>G (p.Pro650Arg)
c.2459C>G (p.Pro820Arg)
c.2120C>G (p.Pro707Arg)
c.2468C>G (p.Pro823Arg)
c.2241+335C>G (n.2241+335C>G)
c.2205+335C>G (n.2205+335C>G)
c.2498C>G (p.Pro833Arg)
c.2133+335C>G (n.2133+335C>G)
c.1680-5868C>G (n.1680-5868C>G)
c.2594C>G (p.Pro865Arg)
c.2660C>G (p.Pro887Arg)
c.2657C>G (p.Pro886Arg)
c.2630C>G (p.Pro877Arg)
c.2576C>G (p.Pro859Arg)
c.2549C>G (p.Pro850Arg)
c.2534C>G (p.Pro845Arg)
c.2141C>G (p.Pro714Arg)
c.2603C>G (p.Pro868Arg)
c.2540C>G (p.Pro847Arg)
c.2537C>G (p.Pro846Arg)
c.2495C>G (p.Pro832Arg)
c.1568C>G (p.Pro523Arg)
20g.63406711G>TCA409636577KCNQ2c.2606C>A (p.Pro869His)
c.2552C>A (p.Pro851His)
c.1949C>A (p.Pro650His)
c.2459C>A (p.Pro820His)
c.2120C>A (p.Pro707His)
c.2468C>A (p.Pro823His)
c.2241+335C>A (n.2241+335C>A)
c.2205+335C>A (n.2205+335C>A)
c.2498C>A (p.Pro833His)
c.2133+335C>A (n.2133+335C>A)
c.1680-5868C>A (n.1680-5868C>A)
c.2594C>A (p.Pro865His)
c.2660C>A (p.Pro887His)
c.2657C>A (p.Pro886His)
c.2630C>A (p.Pro877His)
c.2576C>A (p.Pro859His)
c.2549C>A (p.Pro850His)
c.2534C>A (p.Pro845His)
c.2141C>A (p.Pro714His)
c.2603C>A (p.Pro868His)
c.2540C>A (p.Pro847His)
c.2537C>A (p.Pro846His)
c.2495C>A (p.Pro832His)
c.1568C>A (p.Pro523His)
20g.63406712G>ACA409636579KCNQ2c.2605C>T (p.Pro869Ser)
c.2551C>T (p.Pro851Ser)
c.1948C>T (p.Pro650Ser)
c.2458C>T (p.Pro820Ser)
c.2119C>T (p.Pro707Ser)
c.2467C>T (p.Pro823Ser)
c.2241+334C>T (n.2241+334C>T)
c.2205+334C>T (n.2205+334C>T)
c.2497C>T (p.Pro833Ser)
c.2133+334C>T (n.2133+334C>T)
c.1680-5869C>T (n.1680-5869C>T)
c.2593C>T (p.Pro865Ser)
c.2659C>T (p.Pro887Ser)
c.2656C>T (p.Pro886Ser)
c.2629C>T (p.Pro877Ser)
c.2575C>T (p.Pro859Ser)
c.2548C>T (p.Pro850Ser)
c.2533C>T (p.Pro845Ser)
c.2140C>T (p.Pro714Ser)
c.2602C>T (p.Pro868Ser)
c.2539C>T (p.Pro847Ser)
c.2536C>T (p.Pro846Ser)
c.2494C>T (p.Pro832Ser)
c.1567C>T (p.Pro523Ser)
20g.63406712G>CCA409636580KCNQ2c.2605C>G (p.Pro869Ala)
c.2551C>G (p.Pro851Ala)
c.1948C>G (p.Pro650Ala)
c.2458C>G (p.Pro820Ala)
c.2119C>G (p.Pro707Ala)
c.2467C>G (p.Pro823Ala)
c.2241+334C>G (n.2241+334C>G)
c.2205+334C>G (n.2205+334C>G)
c.2497C>G (p.Pro833Ala)
c.2133+334C>G (n.2133+334C>G)
c.1680-5869C>G (n.1680-5869C>G)
c.2593C>G (p.Pro865Ala)
c.2659C>G (p.Pro887Ala)
c.2656C>G (p.Pro886Ala)
c.2629C>G (p.Pro877Ala)
c.2575C>G (p.Pro859Ala)
c.2548C>G (p.Pro850Ala)
c.2533C>G (p.Pro845Ala)
c.2140C>G (p.Pro714Ala)
c.2602C>G (p.Pro868Ala)
c.2539C>G (p.Pro847Ala)
c.2536C>G (p.Pro846Ala)
c.2494C>G (p.Pro832Ala)
c.1567C>G (p.Pro523Ala)
 gnomAD v4
20g.63406712G>TCA409636583KCNQ2c.2605C>A (p.Pro869Thr)
c.2551C>A (p.Pro851Thr)
c.1948C>A (p.Pro650Thr)
c.2458C>A (p.Pro820Thr)
c.2119C>A (p.Pro707Thr)
c.2467C>A (p.Pro823Thr)
c.2241+334C>A (n.2241+334C>A)
c.2205+334C>A (n.2205+334C>A)
c.2497C>A (p.Pro833Thr)
c.2133+334C>A (n.2133+334C>A)
c.1680-5869C>A (n.1680-5869C>A)
c.2593C>A (p.Pro865Thr)
c.2659C>A (p.Pro887Thr)
c.2656C>A (p.Pro886Thr)
c.2629C>A (p.Pro877Thr)
c.2575C>A (p.Pro859Thr)
c.2548C>A (p.Pro850Thr)
c.2533C>A (p.Pro845Thr)
c.2140C>A (p.Pro714Thr)
c.2602C>A (p.Pro868Thr)
c.2539C>A (p.Pro847Thr)
c.2536C>A (p.Pro846Thr)
c.2494C>A (p.Pro832Thr)
c.1567C>A (p.Pro523Thr)
 gnomAD v4
20g.63406713C>ACA511339213KCNQ2c.2604G>T (p.Gly868=)
c.2550G>T (p.Gly850=)
c.1947G>T (p.Gly649=)
c.2457G>T (p.Gly819=)
c.2118G>T (p.Gly706=)
c.2466G>T (p.Gly822=)
c.2241+333G>T (n.2241+333G>T)
c.2205+333G>T (n.2205+333G>T)
c.2496G>T (p.Gly832=)
c.2133+333G>T (n.2133+333G>T)
c.1680-5870G>T (n.1680-5870G>T)
c.2592G>T (p.Gly864=)
c.2658G>T (p.Gly886=)
c.2655G>T (p.Gly885=)
c.2628G>T (p.Gly876=)
c.2574G>T (p.Gly858=)
c.2547G>T (p.Gly849=)
c.2532G>T (p.Gly844=)
c.2139G>T (p.Gly713=)
c.2601G>T (p.Gly867=)
c.2538G>T (p.Gly846=)
c.2535G>T (p.Gly845=)
c.2493G>T (p.Gly831=)
c.1566G>T (p.Gly522=)
 gnomAD v4
20g.63406713C=CA2374774213KCNQ2c.2604G= (p.Gly868=)
c.2550G= (p.Gly850=)
c.1947G= (p.Gly649=)
c.2457G= (p.Gly819=)
c.2118G= (p.Gly706=)
c.2466G= (p.Gly822=)
c.2241+333G= (n.2241+333G=)
c.2205+333G= (n.2205+333G=)
c.2496G= (p.Gly832=)
c.2133+333G= (n.2133+333G=)
c.1680-5870G= (n.1680-5870G=)
c.2592G= (p.Gly864=)
c.2658G= (p.Gly886=)
c.2655G= (p.Gly885=)
c.2628G= (p.Gly876=)
c.2574G= (p.Gly858=)
c.2547G= (p.Gly849=)
c.2532G= (p.Gly844=)
c.2139G= (p.Gly713=)
c.2601G= (p.Gly867=)
c.2538G= (p.Gly846=)
c.2535G= (p.Gly845=)
c.2493G= (p.Gly831=)
c.1566G= (p.Gly522=)
20g.63406713C>GCA9958058KCNQ2c.2604G>C (p.Gly868=)
c.2550G>C (p.Gly850=)
c.1947G>C (p.Gly649=)
c.2457G>C (p.Gly819=)
c.2118G>C (p.Gly706=)
c.2466G>C (p.Gly822=)
c.2241+333G>C (n.2241+333G>C)
c.2205+333G>C (n.2205+333G>C)
c.2496G>C (p.Gly832=)
c.2133+333G>C (n.2133+333G>C)
c.1680-5870G>C (n.1680-5870G>C)
c.2592G>C (p.Gly864=)
c.2658G>C (p.Gly886=)
c.2655G>C (p.Gly885=)
c.2628G>C (p.Gly876=)
c.2574G>C (p.Gly858=)
c.2547G>C (p.Gly849=)
c.2532G>C (p.Gly844=)
c.2139G>C (p.Gly713=)
c.2601G>C (p.Gly867=)
c.2538G>C (p.Gly846=)
c.2535G>C (p.Gly845=)
c.2493G>C (p.Gly831=)
c.1566G>C (p.Gly522=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406713C>TCA511339212KCNQ2c.2604G>A (p.Gly868=)
c.2550G>A (p.Gly850=)
c.1947G>A (p.Gly649=)
c.2457G>A (p.Gly819=)
c.2118G>A (p.Gly706=)
c.2466G>A (p.Gly822=)
c.2241+333G>A (n.2241+333G>A)
c.2205+333G>A (n.2205+333G>A)
c.2496G>A (p.Gly832=)
c.2133+333G>A (n.2133+333G>A)
c.1680-5870G>A (n.1680-5870G>A)
c.2592G>A (p.Gly864=)
c.2658G>A (p.Gly886=)
c.2655G>A (p.Gly885=)
c.2628G>A (p.Gly876=)
c.2574G>A (p.Gly858=)
c.2547G>A (p.Gly849=)
c.2532G>A (p.Gly844=)
c.2139G>A (p.Gly713=)
c.2601G>A (p.Gly867=)
c.2538G>A (p.Gly846=)
c.2535G>A (p.Gly845=)
c.2493G>A (p.Gly831=)
c.1566G>A (p.Gly522=)
 dbSNP gnomAD v2 gnomAD v4
20g.63406714C>ACA409636588KCNQ2c.2603G>T (p.Gly868Val)
c.2549G>T (p.Gly850Val)
c.1946G>T (p.Gly649Val)
c.2456G>T (p.Gly819Val)
c.2117G>T (p.Gly706Val)
c.2465G>T (p.Gly822Val)
c.2241+332G>T (n.2241+332G>T)
c.2205+332G>T (n.2205+332G>T)
c.2495G>T (p.Gly832Val)
c.2133+332G>T (n.2133+332G>T)
c.1680-5871G>T (n.1680-5871G>T)
c.2591G>T (p.Gly864Val)
c.2657G>T (p.Gly886Val)
c.2654G>T (p.Gly885Val)
c.2627G>T (p.Gly876Val)
c.2573G>T (p.Gly858Val)
c.2546G>T (p.Gly849Val)
c.2531G>T (p.Gly844Val)
c.2138G>T (p.Gly713Val)
c.2600G>T (p.Gly867Val)
c.2537G>T (p.Gly846Val)
c.2534G>T (p.Gly845Val)
c.2492G>T (p.Gly831Val)
c.1565G>T (p.Gly522Val)
20g.63406714C>GCA409636590KCNQ2c.2603G>C (p.Gly868Ala)
c.2549G>C (p.Gly850Ala)
c.1946G>C (p.Gly649Ala)
c.2456G>C (p.Gly819Ala)
c.2117G>C (p.Gly706Ala)
c.2465G>C (p.Gly822Ala)
c.2241+332G>C (n.2241+332G>C)
c.2205+332G>C (n.2205+332G>C)
c.2495G>C (p.Gly832Ala)
c.2133+332G>C (n.2133+332G>C)
c.1680-5871G>C (n.1680-5871G>C)
c.2591G>C (p.Gly864Ala)
c.2657G>C (p.Gly886Ala)
c.2654G>C (p.Gly885Ala)
c.2627G>C (p.Gly876Ala)
c.2573G>C (p.Gly858Ala)
c.2546G>C (p.Gly849Ala)
c.2531G>C (p.Gly844Ala)
c.2138G>C (p.Gly713Ala)
c.2600G>C (p.Gly867Ala)
c.2537G>C (p.Gly846Ala)
c.2534G>C (p.Gly845Ala)
c.2492G>C (p.Gly831Ala)
c.1565G>C (p.Gly522Ala)
20g.63406714C>TCA409636586KCNQ2c.2603G>A (p.Gly868Glu)
c.2549G>A (p.Gly850Glu)
c.1946G>A (p.Gly649Glu)
c.2456G>A (p.Gly819Glu)
c.2117G>A (p.Gly706Glu)
c.2465G>A (p.Gly822Glu)
c.2241+332G>A (n.2241+332G>A)
c.2205+332G>A (n.2205+332G>A)
c.2495G>A (p.Gly832Glu)
c.2133+332G>A (n.2133+332G>A)
c.1680-5871G>A (n.1680-5871G>A)
c.2591G>A (p.Gly864Glu)
c.2657G>A (p.Gly886Glu)
c.2654G>A (p.Gly885Glu)
c.2627G>A (p.Gly876Glu)
c.2573G>A (p.Gly858Glu)
c.2546G>A (p.Gly849Glu)
c.2531G>A (p.Gly844Glu)
c.2138G>A (p.Gly713Glu)
c.2600G>A (p.Gly867Glu)
c.2537G>A (p.Gly846Glu)
c.2534G>A (p.Gly845Glu)
c.2492G>A (p.Gly831Glu)
c.1565G>A (p.Gly522Glu)
20g.63406715C>ACA409636592KCNQ2c.2602G>T (p.Gly868Trp)
c.2548G>T (p.Gly850Trp)
c.1945G>T (p.Gly649Trp)
c.2455G>T (p.Gly819Trp)
c.2116G>T (p.Gly706Trp)
c.2464G>T (p.Gly822Trp)
c.2241+331G>T (n.2241+331G>T)
c.2205+331G>T (n.2205+331G>T)
c.2494G>T (p.Gly832Trp)
c.2133+331G>T (n.2133+331G>T)
c.1680-5872G>T (n.1680-5872G>T)
c.2590G>T (p.Gly864Trp)
c.2656G>T (p.Gly886Trp)
c.2653G>T (p.Gly885Trp)
c.2626G>T (p.Gly876Trp)
c.2572G>T (p.Gly858Trp)
c.2545G>T (p.Gly849Trp)
c.2530G>T (p.Gly844Trp)
c.2137G>T (p.Gly713Trp)
c.2599G>T (p.Gly867Trp)
c.2536G>T (p.Gly846Trp)
c.2533G>T (p.Gly845Trp)
c.2491G>T (p.Gly831Trp)
c.1564G>T (p.Gly522Trp)
20g.63406715C=CA2374774214KCNQ2c.2602G= (p.Gly868=)
c.2548G= (p.Gly850=)
c.1945G= (p.Gly649=)
c.2455G= (p.Gly819=)
c.2116G= (p.Gly706=)
c.2464G= (p.Gly822=)
c.2241+331G= (n.2241+331G=)
c.2205+331G= (n.2205+331G=)
c.2494G= (p.Gly832=)
c.2133+331G= (n.2133+331G=)
c.1680-5872G= (n.1680-5872G=)
c.2590G= (p.Gly864=)
c.2656G= (p.Gly886=)
c.2653G= (p.Gly885=)
c.2626G= (p.Gly876=)
c.2572G= (p.Gly858=)
c.2545G= (p.Gly849=)
c.2530G= (p.Gly844=)
c.2137G= (p.Gly713=)
c.2599G= (p.Gly867=)
c.2536G= (p.Gly846=)
c.2533G= (p.Gly845=)
c.2491G= (p.Gly831=)
c.1564G= (p.Gly522=)
20g.63406715C>GCA409636594KCNQ2c.2602G>C (p.Gly868Arg)
c.2548G>C (p.Gly850Arg)
c.1945G>C (p.Gly649Arg)
c.2455G>C (p.Gly819Arg)
c.2116G>C (p.Gly706Arg)
c.2464G>C (p.Gly822Arg)
c.2241+331G>C (n.2241+331G>C)
c.2205+331G>C (n.2205+331G>C)
c.2494G>C (p.Gly832Arg)
c.2133+331G>C (n.2133+331G>C)
c.1680-5872G>C (n.1680-5872G>C)
c.2590G>C (p.Gly864Arg)
c.2656G>C (p.Gly886Arg)
c.2653G>C (p.Gly885Arg)
c.2626G>C (p.Gly876Arg)
c.2572G>C (p.Gly858Arg)
c.2545G>C (p.Gly849Arg)
c.2530G>C (p.Gly844Arg)
c.2137G>C (p.Gly713Arg)
c.2599G>C (p.Gly867Arg)
c.2536G>C (p.Gly846Arg)
c.2533G>C (p.Gly845Arg)
c.2491G>C (p.Gly831Arg)
c.1564G>C (p.Gly522Arg)
 dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
20g.63406715C>TCA9958059KCNQ2c.2602G>A (p.Gly868Arg)
c.2548G>A (p.Gly850Arg)
c.1945G>A (p.Gly649Arg)
c.2455G>A (p.Gly819Arg)
c.2116G>A (p.Gly706Arg)
c.2464G>A (p.Gly822Arg)
c.2241+331G>A (n.2241+331G>A)
c.2205+331G>A (n.2205+331G>A)
c.2494G>A (p.Gly832Arg)
c.2133+331G>A (n.2133+331G>A)
c.1680-5872G>A (n.1680-5872G>A)
c.2590G>A (p.Gly864Arg)
c.2656G>A (p.Gly886Arg)
c.2653G>A (p.Gly885Arg)
c.2626G>A (p.Gly876Arg)
c.2572G>A (p.Gly858Arg)
c.2545G>A (p.Gly849Arg)
c.2530G>A (p.Gly844Arg)
c.2137G>A (p.Gly713Arg)
c.2599G>A (p.Gly867Arg)
c.2536G>A (p.Gly846Arg)
c.2533G>A (p.Gly845Arg)
c.2491G>A (p.Gly831Arg)
c.1564G>A (p.Gly522Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
20g.63406716G>ACA9958060KCNQ2c.2601C>T (p.Cys867=)
c.2547C>T (p.Cys849=)
c.1944C>T (p.Cys648=)
c.2454C>T (p.Cys818=)
c.2115C>T (p.Cys705=)
c.2463C>T (p.Cys821=)
c.2241+330C>T (n.2241+330C>T)
c.2205+330C>T (n.2205+330C>T)
c.2493C>T (p.Cys831=)
c.2133+330C>T (n.2133+330C>T)
c.1680-5873C>T (n.1680-5873C>T)
c.2589C>T (p.Cys863=)
c.2655C>T (p.Cys885=)
c.2652C>T (p.Cys884=)
c.2625C>T (p.Cys875=)
c.2571C>T (p.Cys857=)
c.2544C>T (p.Cys848=)
c.2529C>T (p.Cys843=)
c.2136C>T (p.Cys712=)
c.2598C>T (p.Cys866=)
c.2535C>T (p.Cys845=)
c.2532C>T (p.Cys844=)
c.2490C>T (p.Cys830=)
c.1563C>T (p.Cys521=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406716G>CCA409636598KCNQ2c.2601C>G (p.Cys867Trp)
c.2547C>G (p.Cys849Trp)
c.1944C>G (p.Cys648Trp)
c.2454C>G (p.Cys818Trp)
c.2115C>G (p.Cys705Trp)
c.2463C>G (p.Cys821Trp)
c.2241+330C>G (n.2241+330C>G)
c.2205+330C>G (n.2205+330C>G)
c.2493C>G (p.Cys831Trp)
c.2133+330C>G (n.2133+330C>G)
c.1680-5873C>G (n.1680-5873C>G)
c.2589C>G (p.Cys863Trp)
c.2655C>G (p.Cys885Trp)
c.2652C>G (p.Cys884Trp)
c.2625C>G (p.Cys875Trp)
c.2571C>G (p.Cys857Trp)
c.2544C>G (p.Cys848Trp)
c.2529C>G (p.Cys843Trp)
c.2136C>G (p.Cys712Trp)
c.2598C>G (p.Cys866Trp)
c.2535C>G (p.Cys845Trp)
c.2532C>G (p.Cys844Trp)
c.2490C>G (p.Cys830Trp)
c.1563C>G (p.Cys521Trp)
 dbSNP gnomAD v2 gnomAD v4
20g.63406716G=CA2374774215KCNQ2c.2601C= (p.Cys867=)
c.2547C= (p.Cys849=)
c.1944C= (p.Cys648=)
c.2454C= (p.Cys818=)
c.2115C= (p.Cys705=)
c.2463C= (p.Cys821=)
c.2241+330C= (n.2241+330C=)
c.2205+330C= (n.2205+330C=)
c.2493C= (p.Cys831=)
c.2133+330C= (n.2133+330C=)
c.1680-5873C= (n.1680-5873C=)
c.2589C= (p.Cys863=)
c.2655C= (p.Cys885=)
c.2652C= (p.Cys884=)
c.2625C= (p.Cys875=)
c.2571C= (p.Cys857=)
c.2544C= (p.Cys848=)
c.2529C= (p.Cys843=)
c.2136C= (p.Cys712=)
c.2598C= (p.Cys866=)
c.2535C= (p.Cys845=)
c.2532C= (p.Cys844=)
c.2490C= (p.Cys830=)
c.1563C= (p.Cys521=)
20g.63406716G>TCA409636600KCNQ2c.2601C>A (p.Cys867Ter)
c.2547C>A (p.Cys849Ter)
c.1944C>A (p.Cys648Ter)
c.2454C>A (p.Cys818Ter)
c.2115C>A (p.Cys705Ter)
c.2463C>A (p.Cys821Ter)
c.2241+330C>A (n.2241+330C>A)
c.2205+330C>A (n.2205+330C>A)
c.2493C>A (p.Cys831Ter)
c.2133+330C>A (n.2133+330C>A)
c.1680-5873C>A (n.1680-5873C>A)
c.2589C>A (p.Cys863Ter)
c.2655C>A (p.Cys885Ter)
c.2652C>A (p.Cys884Ter)
c.2625C>A (p.Cys875Ter)
c.2571C>A (p.Cys857Ter)
c.2544C>A (p.Cys848Ter)
c.2529C>A (p.Cys843Ter)
c.2136C>A (p.Cys712Ter)
c.2598C>A (p.Cys866Ter)
c.2535C>A (p.Cys845Ter)
c.2532C>A (p.Cys844Ter)
c.2490C>A (p.Cys830Ter)
c.1563C>A (p.Cys521Ter)
 gnomAD v4
20g.63406717C>ACA9958061KCNQ2c.2600G>T (p.Cys867Phe)
c.2546G>T (p.Cys849Phe)
c.1943G>T (p.Cys648Phe)
c.2453G>T (p.Cys818Phe)
c.2114G>T (p.Cys705Phe)
c.2462G>T (p.Cys821Phe)
c.2241+329G>T (n.2241+329G>T)
c.2205+329G>T (n.2205+329G>T)
c.2492G>T (p.Cys831Phe)
c.2133+329G>T (n.2133+329G>T)
c.1680-5874G>T (n.1680-5874G>T)
c.2588G>T (p.Cys863Phe)
c.2654G>T (p.Cys885Phe)
c.2651G>T (p.Cys884Phe)
c.2624G>T (p.Cys875Phe)
c.2570G>T (p.Cys857Phe)
c.2543G>T (p.Cys848Phe)
c.2528G>T (p.Cys843Phe)
c.2135G>T (p.Cys712Phe)
c.2597G>T (p.Cys866Phe)
c.2534G>T (p.Cys845Phe)
c.2531G>T (p.Cys844Phe)
c.2489G>T (p.Cys830Phe)
c.1562G>T (p.Cys521Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406717C=CA2374774216KCNQ2c.2600G= (p.Cys867=)
c.2546G= (p.Cys849=)
c.1943G= (p.Cys648=)
c.2453G= (p.Cys818=)
c.2114G= (p.Cys705=)
c.2462G= (p.Cys821=)
c.2241+329G= (n.2241+329G=)
c.2205+329G= (n.2205+329G=)
c.2492G= (p.Cys831=)
c.2133+329G= (n.2133+329G=)
c.1680-5874G= (n.1680-5874G=)
c.2588G= (p.Cys863=)
c.2654G= (p.Cys885=)
c.2651G= (p.Cys884=)
c.2624G= (p.Cys875=)
c.2570G= (p.Cys857=)
c.2543G= (p.Cys848=)
c.2528G= (p.Cys843=)
c.2135G= (p.Cys712=)
c.2597G= (p.Cys866=)
c.2534G= (p.Cys845=)
c.2531G= (p.Cys844=)
c.2489G= (p.Cys830=)
c.1562G= (p.Cys521=)
20g.63406717C>GCA409636605KCNQ2c.2600G>C (p.Cys867Ser)
c.2546G>C (p.Cys849Ser)
c.1943G>C (p.Cys648Ser)
c.2453G>C (p.Cys818Ser)
c.2114G>C (p.Cys705Ser)
c.2462G>C (p.Cys821Ser)
c.2241+329G>C (n.2241+329G>C)
c.2205+329G>C (n.2205+329G>C)
c.2492G>C (p.Cys831Ser)
c.2133+329G>C (n.2133+329G>C)
c.1680-5874G>C (n.1680-5874G>C)
c.2588G>C (p.Cys863Ser)
c.2654G>C (p.Cys885Ser)
c.2651G>C (p.Cys884Ser)
c.2624G>C (p.Cys875Ser)
c.2570G>C (p.Cys857Ser)
c.2543G>C (p.Cys848Ser)
c.2528G>C (p.Cys843Ser)
c.2135G>C (p.Cys712Ser)
c.2597G>C (p.Cys866Ser)
c.2534G>C (p.Cys845Ser)
c.2531G>C (p.Cys844Ser)
c.2489G>C (p.Cys830Ser)
c.1562G>C (p.Cys521Ser)
20g.63406717C>TCA409636603KCNQ2c.2600G>A (p.Cys867Tyr)
c.2546G>A (p.Cys849Tyr)
c.1943G>A (p.Cys648Tyr)
c.2453G>A (p.Cys818Tyr)
c.2114G>A (p.Cys705Tyr)
c.2462G>A (p.Cys821Tyr)
c.2241+329G>A (n.2241+329G>A)
c.2205+329G>A (n.2205+329G>A)
c.2492G>A (p.Cys831Tyr)
c.2133+329G>A (n.2133+329G>A)
c.1680-5874G>A (n.1680-5874G>A)
c.2588G>A (p.Cys863Tyr)
c.2654G>A (p.Cys885Tyr)
c.2651G>A (p.Cys884Tyr)
c.2624G>A (p.Cys875Tyr)
c.2570G>A (p.Cys857Tyr)
c.2543G>A (p.Cys848Tyr)
c.2528G>A (p.Cys843Tyr)
c.2135G>A (p.Cys712Tyr)
c.2597G>A (p.Cys866Tyr)
c.2534G>A (p.Cys845Tyr)
c.2531G>A (p.Cys844Tyr)
c.2489G>A (p.Cys830Tyr)
c.1562G>A (p.Cys521Tyr)
20g.63406718A>CCA409636608KCNQ2c.2599T>G (p.Cys867Gly)
c.2545T>G (p.Cys849Gly)
c.1942T>G (p.Cys648Gly)
c.2452T>G (p.Cys818Gly)
c.2113T>G (p.Cys705Gly)
c.2461T>G (p.Cys821Gly)
c.2241+328T>G (n.2241+328T>G)
c.2205+328T>G (n.2205+328T>G)
c.2491T>G (p.Cys831Gly)
c.2133+328T>G (n.2133+328T>G)
c.1680-5875T>G (n.1680-5875T>G)
c.2587T>G (p.Cys863Gly)
c.2653T>G (p.Cys885Gly)
c.2650T>G (p.Cys884Gly)
c.2623T>G (p.Cys875Gly)
c.2569T>G (p.Cys857Gly)
c.2542T>G (p.Cys848Gly)
c.2527T>G (p.Cys843Gly)
c.2134T>G (p.Cys712Gly)
c.2596T>G (p.Cys866Gly)
c.2533T>G (p.Cys845Gly)
c.2530T>G (p.Cys844Gly)
c.2488T>G (p.Cys830Gly)
c.1561T>G (p.Cys521Gly)
20g.63406718A>GCA409636610KCNQ2c.2599T>C (p.Cys867Arg)
c.2545T>C (p.Cys849Arg)
c.1942T>C (p.Cys648Arg)
c.2452T>C (p.Cys818Arg)
c.2113T>C (p.Cys705Arg)
c.2461T>C (p.Cys821Arg)
c.2241+328T>C (n.2241+328T>C)
c.2205+328T>C (n.2205+328T>C)
c.2491T>C (p.Cys831Arg)
c.2133+328T>C (n.2133+328T>C)
c.1680-5875T>C (n.1680-5875T>C)
c.2587T>C (p.Cys863Arg)
c.2653T>C (p.Cys885Arg)
c.2650T>C (p.Cys884Arg)
c.2623T>C (p.Cys875Arg)
c.2569T>C (p.Cys857Arg)
c.2542T>C (p.Cys848Arg)
c.2527T>C (p.Cys843Arg)
c.2134T>C (p.Cys712Arg)
c.2596T>C (p.Cys866Arg)
c.2533T>C (p.Cys845Arg)
c.2530T>C (p.Cys844Arg)
c.2488T>C (p.Cys830Arg)
c.1561T>C (p.Cys521Arg)
 gnomAD v4
20g.63406718A>TCA409636611KCNQ2c.2599T>A (p.Cys867Ser)
c.2545T>A (p.Cys849Ser)
c.1942T>A (p.Cys648Ser)
c.2452T>A (p.Cys818Ser)
c.2113T>A (p.Cys705Ser)
c.2461T>A (p.Cys821Ser)
c.2241+328T>A (n.2241+328T>A)
c.2205+328T>A (n.2205+328T>A)
c.2491T>A (p.Cys831Ser)
c.2133+328T>A (n.2133+328T>A)
c.1680-5875T>A (n.1680-5875T>A)
c.2587T>A (p.Cys863Ser)
c.2653T>A (p.Cys885Ser)
c.2650T>A (p.Cys884Ser)
c.2623T>A (p.Cys875Ser)
c.2569T>A (p.Cys857Ser)
c.2542T>A (p.Cys848Ser)
c.2527T>A (p.Cys843Ser)
c.2134T>A (p.Cys712Ser)
c.2596T>A (p.Cys866Ser)
c.2533T>A (p.Cys845Ser)
c.2530T>A (p.Cys844Ser)
c.2488T>A (p.Cys830Ser)
c.1561T>A (p.Cys521Ser)
20g.63406719C>ACA511339214KCNQ2c.2598G>T (p.Pro866=)
c.2544G>T (p.Pro848=)
c.1941G>T (p.Pro647=)
c.2451G>T (p.Pro817=)
c.2112G>T (p.Pro704=)
c.2460G>T (p.Pro820=)
c.2241+327G>T (n.2241+327G>T)
c.2205+327G>T (n.2205+327G>T)
c.2490G>T (p.Pro830=)
c.2133+327G>T (n.2133+327G>T)
c.1680-5876G>T (n.1680-5876G>T)
c.2586G>T (p.Pro862=)
c.2652G>T (p.Pro884=)
c.2649G>T (p.Pro883=)
c.2622G>T (p.Pro874=)
c.2568G>T (p.Pro856=)
c.2541G>T (p.Pro847=)
c.2526G>T (p.Pro842=)
c.2133G>T (p.Pro711=)
c.2595G>T (p.Pro865=)
c.2532G>T (p.Pro844=)
c.2529G>T (p.Pro843=)
c.2487G>T (p.Pro829=)
c.1560G>T (p.Pro520=)
 dbSNP gnomAD v2 gnomAD v4
20g.63406719C=CA2374774217KCNQ2c.2598G= (p.Pro866=)
c.2544G= (p.Pro848=)
c.1941G= (p.Pro647=)
c.2451G= (p.Pro817=)
c.2112G= (p.Pro704=)
c.2460G= (p.Pro820=)
c.2241+327G= (n.2241+327G=)
c.2205+327G= (n.2205+327G=)
c.2490G= (p.Pro830=)
c.2133+327G= (n.2133+327G=)
c.1680-5876G= (n.1680-5876G=)
c.2586G= (p.Pro862=)
c.2652G= (p.Pro884=)
c.2649G= (p.Pro883=)
c.2622G= (p.Pro874=)
c.2568G= (p.Pro856=)
c.2541G= (p.Pro847=)
c.2526G= (p.Pro842=)
c.2133G= (p.Pro711=)
c.2595G= (p.Pro865=)
c.2532G= (p.Pro844=)
c.2529G= (p.Pro843=)
c.2487G= (p.Pro829=)
c.1560G= (p.Pro520=)
20g.63406719C>GCA511339215KCNQ2c.2598G>C (p.Pro866=)
c.2544G>C (p.Pro848=)
c.1941G>C (p.Pro647=)
c.2451G>C (p.Pro817=)
c.2112G>C (p.Pro704=)
c.2460G>C (p.Pro820=)
c.2241+327G>C (n.2241+327G>C)
c.2205+327G>C (n.2205+327G>C)
c.2490G>C (p.Pro830=)
c.2133+327G>C (n.2133+327G>C)
c.1680-5876G>C (n.1680-5876G>C)
c.2586G>C (p.Pro862=)
c.2652G>C (p.Pro884=)
c.2649G>C (p.Pro883=)
c.2622G>C (p.Pro874=)
c.2568G>C (p.Pro856=)
c.2541G>C (p.Pro847=)
c.2526G>C (p.Pro842=)
c.2133G>C (p.Pro711=)
c.2595G>C (p.Pro865=)
c.2532G>C (p.Pro844=)
c.2529G>C (p.Pro843=)
c.2487G>C (p.Pro829=)
c.1560G>C (p.Pro520=)
20g.63406719C>TCA291818KCNQ2c.2598G>A (p.Pro866=)
c.2544G>A (p.Pro848=)
c.1941G>A (p.Pro647=)
c.2451G>A (p.Pro817=)
c.2112G>A (p.Pro704=)
c.2460G>A (p.Pro820=)
c.2241+327G>A (n.2241+327G>A)
c.2205+327G>A (n.2205+327G>A)
c.2490G>A (p.Pro830=)
c.2133+327G>A (n.2133+327G>A)
c.1680-5876G>A (n.1680-5876G>A)
c.2586G>A (p.Pro862=)
c.2652G>A (p.Pro884=)
c.2649G>A (p.Pro883=)
c.2622G>A (p.Pro874=)
c.2568G>A (p.Pro856=)
c.2541G>A (p.Pro847=)
c.2526G>A (p.Pro842=)
c.2133G>A (p.Pro711=)
c.2595G>A (p.Pro865=)
c.2532G>A (p.Pro844=)
c.2529G>A (p.Pro843=)
c.2487G>A (p.Pro829=)
c.1560G>A (p.Pro520=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406720G>ACA315533KCNQ2c.2597C>T (p.Pro866Leu)
c.2543C>T (p.Pro848Leu)
c.1940C>T (p.Pro647Leu)
c.2450C>T (p.Pro817Leu)
c.2111C>T (p.Pro704Leu)
c.2459C>T (p.Pro820Leu)
c.2241+326C>T (n.2241+326C>T)
c.2205+326C>T (n.2205+326C>T)
c.2489C>T (p.Pro830Leu)
c.2133+326C>T (n.2133+326C>T)
c.1680-5877C>T (n.1680-5877C>T)
c.2585C>T (p.Pro862Leu)
c.2651C>T (p.Pro884Leu)
c.2648C>T (p.Pro883Leu)
c.2621C>T (p.Pro874Leu)
c.2567C>T (p.Pro856Leu)
c.2540C>T (p.Pro847Leu)
c.2525C>T (p.Pro842Leu)
c.2132C>T (p.Pro711Leu)
c.2594C>T (p.Pro865Leu)
c.2531C>T (p.Pro844Leu)
c.2528C>T (p.Pro843Leu)
c.2486C>T (p.Pro829Leu)
c.1559C>T (p.Pro520Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406720G>CCA409636617KCNQ2c.2597C>G (p.Pro866Arg)
c.2543C>G (p.Pro848Arg)
c.1940C>G (p.Pro647Arg)
c.2450C>G (p.Pro817Arg)
c.2111C>G (p.Pro704Arg)
c.2459C>G (p.Pro820Arg)
c.2241+326C>G (n.2241+326C>G)
c.2205+326C>G (n.2205+326C>G)
c.2489C>G (p.Pro830Arg)
c.2133+326C>G (n.2133+326C>G)
c.1680-5877C>G (n.1680-5877C>G)
c.2585C>G (p.Pro862Arg)
c.2651C>G (p.Pro884Arg)
c.2648C>G (p.Pro883Arg)
c.2621C>G (p.Pro874Arg)
c.2567C>G (p.Pro856Arg)
c.2540C>G (p.Pro847Arg)
c.2525C>G (p.Pro842Arg)
c.2132C>G (p.Pro711Arg)
c.2594C>G (p.Pro865Arg)
c.2531C>G (p.Pro844Arg)
c.2528C>G (p.Pro843Arg)
c.2486C>G (p.Pro829Arg)
c.1559C>G (p.Pro520Arg)
20g.63406720G=CA2374774218KCNQ2c.2597C= (p.Pro866=)
c.2543C= (p.Pro848=)
c.1940C= (p.Pro647=)
c.2450C= (p.Pro817=)
c.2111C= (p.Pro704=)
c.2459C= (p.Pro820=)
c.2241+326C= (n.2241+326C=)
c.2205+326C= (n.2205+326C=)
c.2489C= (p.Pro830=)
c.2133+326C= (n.2133+326C=)
c.1680-5877C= (n.1680-5877C=)
c.2585C= (p.Pro862=)
c.2651C= (p.Pro884=)
c.2648C= (p.Pro883=)
c.2621C= (p.Pro874=)
c.2567C= (p.Pro856=)
c.2540C= (p.Pro847=)
c.2525C= (p.Pro842=)
c.2132C= (p.Pro711=)
c.2594C= (p.Pro865=)
c.2531C= (p.Pro844=)
c.2528C= (p.Pro843=)
c.2486C= (p.Pro829=)
c.1559C= (p.Pro520=)
20g.63406720G>TCA409636615KCNQ2c.2597C>A (p.Pro866Gln)
c.2543C>A (p.Pro848Gln)
c.1940C>A (p.Pro647Gln)
c.2450C>A (p.Pro817Gln)
c.2111C>A (p.Pro704Gln)
c.2459C>A (p.Pro820Gln)
c.2241+326C>A (n.2241+326C>A)
c.2205+326C>A (n.2205+326C>A)
c.2489C>A (p.Pro830Gln)
c.2133+326C>A (n.2133+326C>A)
c.1680-5877C>A (n.1680-5877C>A)
c.2585C>A (p.Pro862Gln)
c.2651C>A (p.Pro884Gln)
c.2648C>A (p.Pro883Gln)
c.2621C>A (p.Pro874Gln)
c.2567C>A (p.Pro856Gln)
c.2540C>A (p.Pro847Gln)
c.2525C>A (p.Pro842Gln)
c.2132C>A (p.Pro711Gln)
c.2594C>A (p.Pro865Gln)
c.2531C>A (p.Pro844Gln)
c.2528C>A (p.Pro843Gln)
c.2486C>A (p.Pro829Gln)
c.1559C>A (p.Pro520Gln)
20g.63406721G>ACA409636620KCNQ2c.2596C>T (p.Pro866Ser)
c.2542C>T (p.Pro848Ser)
c.1939C>T (p.Pro647Ser)
c.2449C>T (p.Pro817Ser)
c.2110C>T (p.Pro704Ser)
c.2458C>T (p.Pro820Ser)
c.2241+325C>T (n.2241+325C>T)
c.2205+325C>T (n.2205+325C>T)
c.2488C>T (p.Pro830Ser)
c.2133+325C>T (n.2133+325C>T)
c.1680-5878C>T (n.1680-5878C>T)
c.2584C>T (p.Pro862Ser)
c.2650C>T (p.Pro884Ser)
c.2647C>T (p.Pro883Ser)
c.2620C>T (p.Pro874Ser)
c.2566C>T (p.Pro856Ser)
c.2539C>T (p.Pro847Ser)
c.2524C>T (p.Pro842Ser)
c.2131C>T (p.Pro711Ser)
c.2593C>T (p.Pro865Ser)
c.2530C>T (p.Pro844Ser)
c.2527C>T (p.Pro843Ser)
c.2485C>T (p.Pro829Ser)
c.1558C>T (p.Pro520Ser)
20g.63406721G>CCA409636621KCNQ2c.2596C>G (p.Pro866Ala)
c.2542C>G (p.Pro848Ala)
c.1939C>G (p.Pro647Ala)
c.2449C>G (p.Pro817Ala)
c.2110C>G (p.Pro704Ala)
c.2458C>G (p.Pro820Ala)
c.2241+325C>G (n.2241+325C>G)
c.2205+325C>G (n.2205+325C>G)
c.2488C>G (p.Pro830Ala)
c.2133+325C>G (n.2133+325C>G)
c.1680-5878C>G (n.1680-5878C>G)
c.2584C>G (p.Pro862Ala)
c.2650C>G (p.Pro884Ala)
c.2647C>G (p.Pro883Ala)
c.2620C>G (p.Pro874Ala)
c.2566C>G (p.Pro856Ala)
c.2539C>G (p.Pro847Ala)
c.2524C>G (p.Pro842Ala)
c.2131C>G (p.Pro711Ala)
c.2593C>G (p.Pro865Ala)
c.2530C>G (p.Pro844Ala)
c.2527C>G (p.Pro843Ala)
c.2485C>G (p.Pro829Ala)
c.1558C>G (p.Pro520Ala)
20g.63406721G>TCA409636622KCNQ2c.2596C>A (p.Pro866Thr)
c.2542C>A (p.Pro848Thr)
c.1939C>A (p.Pro647Thr)
c.2449C>A (p.Pro817Thr)
c.2110C>A (p.Pro704Thr)
c.2458C>A (p.Pro820Thr)
c.2241+325C>A (n.2241+325C>A)
c.2205+325C>A (n.2205+325C>A)
c.2488C>A (p.Pro830Thr)
c.2133+325C>A (n.2133+325C>A)
c.1680-5878C>A (n.1680-5878C>A)
c.2584C>A (p.Pro862Thr)
c.2650C>A (p.Pro884Thr)
c.2647C>A (p.Pro883Thr)
c.2620C>A (p.Pro874Thr)
c.2566C>A (p.Pro856Thr)
c.2539C>A (p.Pro847Thr)
c.2524C>A (p.Pro842Thr)
c.2131C>A (p.Pro711Thr)
c.2593C>A (p.Pro865Thr)
c.2530C>A (p.Pro844Thr)
c.2527C>A (p.Pro843Thr)
c.2485C>A (p.Pro829Thr)
c.1558C>A (p.Pro520Thr)
20g.63406722G>ACA511339216KCNQ2c.2595C>T (p.Thr865=)
c.2541C>T (p.Thr847=)
c.1938C>T (p.Thr646=)
c.2448C>T (p.Thr816=)
c.2109C>T (p.Thr703=)
c.2457C>T (p.Thr819=)
c.2241+324C>T (n.2241+324C>T)
c.2205+324C>T (n.2205+324C>T)
c.2487C>T (p.Thr829=)
c.2133+324C>T (n.2133+324C>T)
c.1680-5879C>T (n.1680-5879C>T)
c.2583C>T (p.Thr861=)
c.2649C>T (p.Thr883=)
c.2646C>T (p.Thr882=)
c.2619C>T (p.Thr873=)
c.2565C>T (p.Thr855=)
c.2538C>T (p.Thr846=)
c.2523C>T (p.Thr841=)
c.2130C>T (p.Thr710=)
c.2592C>T (p.Thr864=)
c.2529C>T (p.Thr843=)
c.2526C>T (p.Thr842=)
c.2484C>T (p.Thr828=)
c.1557C>T (p.Thr519=)
20g.63406722G>CCA511339217KCNQ2c.2595C>G (p.Thr865=)
c.2541C>G (p.Thr847=)
c.1938C>G (p.Thr646=)
c.2448C>G (p.Thr816=)
c.2109C>G (p.Thr703=)
c.2457C>G (p.Thr819=)
c.2241+324C>G (n.2241+324C>G)
c.2205+324C>G (n.2205+324C>G)
c.2487C>G (p.Thr829=)
c.2133+324C>G (n.2133+324C>G)
c.1680-5879C>G (n.1680-5879C>G)
c.2583C>G (p.Thr861=)
c.2649C>G (p.Thr883=)
c.2646C>G (p.Thr882=)
c.2619C>G (p.Thr873=)
c.2565C>G (p.Thr855=)
c.2538C>G (p.Thr846=)
c.2523C>G (p.Thr841=)
c.2130C>G (p.Thr710=)
c.2592C>G (p.Thr864=)
c.2529C>G (p.Thr843=)
c.2526C>G (p.Thr842=)
c.2484C>G (p.Thr828=)
c.1557C>G (p.Thr519=)
20g.63406722G>TCA511339218KCNQ2c.2595C>A (p.Thr865=)
c.2541C>A (p.Thr847=)
c.1938C>A (p.Thr646=)
c.2448C>A (p.Thr816=)
c.2109C>A (p.Thr703=)
c.2457C>A (p.Thr819=)
c.2241+324C>A (n.2241+324C>A)
c.2205+324C>A (n.2205+324C>A)
c.2487C>A (p.Thr829=)
c.2133+324C>A (n.2133+324C>A)
c.1680-5879C>A (n.1680-5879C>A)
c.2583C>A (p.Thr861=)
c.2649C>A (p.Thr883=)
c.2646C>A (p.Thr882=)
c.2619C>A (p.Thr873=)
c.2565C>A (p.Thr855=)
c.2538C>A (p.Thr846=)
c.2523C>A (p.Thr841=)
c.2130C>A (p.Thr710=)
c.2592C>A (p.Thr864=)
c.2529C>A (p.Thr843=)
c.2526C>A (p.Thr842=)
c.2484C>A (p.Thr828=)
c.1557C>A (p.Thr519=)
20g.63406723G>ACA9958062KCNQ2c.2594C>T (p.Thr865Ile)
c.2540C>T (p.Thr847Ile)
c.1937C>T (p.Thr646Ile)
c.2447C>T (p.Thr816Ile)
c.2108C>T (p.Thr703Ile)
c.2456C>T (p.Thr819Ile)
c.2241+323C>T (n.2241+323C>T)
c.2205+323C>T (n.2205+323C>T)
c.2486C>T (p.Thr829Ile)
c.2133+323C>T (n.2133+323C>T)
c.1680-5880C>T (n.1680-5880C>T)
c.2582C>T (p.Thr861Ile)
c.2648C>T (p.Thr883Ile)
c.2645C>T (p.Thr882Ile)
c.2618C>T (p.Thr873Ile)
c.2564C>T (p.Thr855Ile)
c.2537C>T (p.Thr846Ile)
c.2522C>T (p.Thr841Ile)
c.2129C>T (p.Thr710Ile)
c.2591C>T (p.Thr864Ile)
c.2528C>T (p.Thr843Ile)
c.2525C>T (p.Thr842Ile)
c.2483C>T (p.Thr828Ile)
c.1556C>T (p.Thr519Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406723G>CCA409636626KCNQ2c.2594C>G (p.Thr865Ser)
c.2540C>G (p.Thr847Ser)
c.1937C>G (p.Thr646Ser)
c.2447C>G (p.Thr816Ser)
c.2108C>G (p.Thr703Ser)
c.2456C>G (p.Thr819Ser)
c.2241+323C>G (n.2241+323C>G)
c.2205+323C>G (n.2205+323C>G)
c.2486C>G (p.Thr829Ser)
c.2133+323C>G (n.2133+323C>G)
c.1680-5880C>G (n.1680-5880C>G)
c.2582C>G (p.Thr861Ser)
c.2648C>G (p.Thr883Ser)
c.2645C>G (p.Thr882Ser)
c.2618C>G (p.Thr873Ser)
c.2564C>G (p.Thr855Ser)
c.2537C>G (p.Thr846Ser)
c.2522C>G (p.Thr841Ser)
c.2129C>G (p.Thr710Ser)
c.2591C>G (p.Thr864Ser)
c.2528C>G (p.Thr843Ser)
c.2525C>G (p.Thr842Ser)
c.2483C>G (p.Thr828Ser)
c.1556C>G (p.Thr519Ser)
20g.63406723G=CA2374774219KCNQ2c.2594C= (p.Thr865=)
c.2540C= (p.Thr847=)
c.1937C= (p.Thr646=)
c.2447C= (p.Thr816=)
c.2108C= (p.Thr703=)
c.2456C= (p.Thr819=)
c.2241+323C= (n.2241+323C=)
c.2205+323C= (n.2205+323C=)
c.2486C= (p.Thr829=)
c.2133+323C= (n.2133+323C=)
c.1680-5880C= (n.1680-5880C=)
c.2582C= (p.Thr861=)
c.2648C= (p.Thr883=)
c.2645C= (p.Thr882=)
c.2618C= (p.Thr873=)
c.2564C= (p.Thr855=)
c.2537C= (p.Thr846=)
c.2522C= (p.Thr841=)
c.2129C= (p.Thr710=)
c.2591C= (p.Thr864=)
c.2528C= (p.Thr843=)
c.2525C= (p.Thr842=)
c.2483C= (p.Thr828=)
c.1556C= (p.Thr519=)
20g.63406723G>TCA409636628KCNQ2c.2594C>A (p.Thr865Asn)
c.2540C>A (p.Thr847Asn)
c.1937C>A (p.Thr646Asn)
c.2447C>A (p.Thr816Asn)
c.2108C>A (p.Thr703Asn)
c.2456C>A (p.Thr819Asn)
c.2241+323C>A (n.2241+323C>A)
c.2205+323C>A (n.2205+323C>A)
c.2486C>A (p.Thr829Asn)
c.2133+323C>A (n.2133+323C>A)
c.1680-5880C>A (n.1680-5880C>A)
c.2582C>A (p.Thr861Asn)
c.2648C>A (p.Thr883Asn)
c.2645C>A (p.Thr882Asn)
c.2618C>A (p.Thr873Asn)
c.2564C>A (p.Thr855Asn)
c.2537C>A (p.Thr846Asn)
c.2522C>A (p.Thr841Asn)
c.2129C>A (p.Thr710Asn)
c.2591C>A (p.Thr864Asn)
c.2528C>A (p.Thr843Asn)
c.2525C>A (p.Thr842Asn)
c.2483C>A (p.Thr828Asn)
c.1556C>A (p.Thr519Asn)
20g.63406724T>ACA409636630KCNQ2c.2593A>T (p.Thr865Ser)
c.2539A>T (p.Thr847Ser)
c.1936A>T (p.Thr646Ser)
c.2446A>T (p.Thr816Ser)
c.2107A>T (p.Thr703Ser)
c.2455A>T (p.Thr819Ser)
c.2241+322A>T (n.2241+322A>T)
c.2205+322A>T (n.2205+322A>T)
c.2485A>T (p.Thr829Ser)
c.2133+322A>T (n.2133+322A>T)
c.1680-5881A>T (n.1680-5881A>T)
c.2581A>T (p.Thr861Ser)
c.2647A>T (p.Thr883Ser)
c.2644A>T (p.Thr882Ser)
c.2617A>T (p.Thr873Ser)
c.2563A>T (p.Thr855Ser)
c.2536A>T (p.Thr846Ser)
c.2521A>T (p.Thr841Ser)
c.2128A>T (p.Thr710Ser)
c.2590A>T (p.Thr864Ser)
c.2527A>T (p.Thr843Ser)
c.2524A>T (p.Thr842Ser)
c.2482A>T (p.Thr828Ser)
c.1555A>T (p.Thr519Ser)
20g.63406724T>CCA409636631KCNQ2c.2593A>G (p.Thr865Ala)
c.2539A>G (p.Thr847Ala)
c.1936A>G (p.Thr646Ala)
c.2446A>G (p.Thr816Ala)
c.2107A>G (p.Thr703Ala)
c.2455A>G (p.Thr819Ala)
c.2241+322A>G (n.2241+322A>G)
c.2205+322A>G (n.2205+322A>G)
c.2485A>G (p.Thr829Ala)
c.2133+322A>G (n.2133+322A>G)
c.1680-5881A>G (n.1680-5881A>G)
c.2581A>G (p.Thr861Ala)
c.2647A>G (p.Thr883Ala)
c.2644A>G (p.Thr882Ala)
c.2617A>G (p.Thr873Ala)
c.2563A>G (p.Thr855Ala)
c.2536A>G (p.Thr846Ala)
c.2521A>G (p.Thr841Ala)
c.2128A>G (p.Thr710Ala)
c.2590A>G (p.Thr864Ala)
c.2527A>G (p.Thr843Ala)
c.2524A>G (p.Thr842Ala)
c.2482A>G (p.Thr828Ala)
c.1555A>G (p.Thr519Ala)
20g.63406724T>GCA9958063KCNQ2c.2593A>C (p.Thr865Pro)
c.2539A>C (p.Thr847Pro)
c.1936A>C (p.Thr646Pro)
c.2446A>C (p.Thr816Pro)
c.2107A>C (p.Thr703Pro)
c.2455A>C (p.Thr819Pro)
c.2241+322A>C (n.2241+322A>C)
c.2205+322A>C (n.2205+322A>C)
c.2485A>C (p.Thr829Pro)
c.2133+322A>C (n.2133+322A>C)
c.1680-5881A>C (n.1680-5881A>C)
c.2581A>C (p.Thr861Pro)
c.2647A>C (p.Thr883Pro)
c.2644A>C (p.Thr882Pro)
c.2617A>C (p.Thr873Pro)
c.2563A>C (p.Thr855Pro)
c.2536A>C (p.Thr846Pro)
c.2521A>C (p.Thr841Pro)
c.2128A>C (p.Thr710Pro)
c.2590A>C (p.Thr864Pro)
c.2527A>C (p.Thr843Pro)
c.2524A>C (p.Thr842Pro)
c.2482A>C (p.Thr828Pro)
c.1555A>C (p.Thr519Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406724T=CA2374774220KCNQ2c.2593A= (p.Thr865=)
c.2539A= (p.Thr847=)
c.1936A= (p.Thr646=)
c.2446A= (p.Thr816=)
c.2107A= (p.Thr703=)
c.2455A= (p.Thr819=)
c.2241+322A= (n.2241+322A=)
c.2205+322A= (n.2205+322A=)
c.2485A= (p.Thr829=)
c.2133+322A= (n.2133+322A=)
c.1680-5881A= (n.1680-5881A=)
c.2581A= (p.Thr861=)
c.2647A= (p.Thr883=)
c.2644A= (p.Thr882=)
c.2617A= (p.Thr873=)
c.2563A= (p.Thr855=)
c.2536A= (p.Thr846=)
c.2521A= (p.Thr841=)
c.2128A= (p.Thr710=)
c.2590A= (p.Thr864=)
c.2527A= (p.Thr843=)
c.2524A= (p.Thr842=)
c.2482A= (p.Thr828=)
c.1555A= (p.Thr519=)
20g.63406725A>CCA409636634KCNQ2c.2592T>G (p.Cys864Trp)
c.2538T>G (p.Cys846Trp)
c.1935T>G (p.Cys645Trp)
c.2445T>G (p.Cys815Trp)
c.2106T>G (p.Cys702Trp)
c.2454T>G (p.Cys818Trp)
c.2241+321T>G (n.2241+321T>G)
c.2205+321T>G (n.2205+321T>G)
c.2484T>G (p.Cys828Trp)
c.2133+321T>G (n.2133+321T>G)
c.1680-5882T>G (n.1680-5882T>G)
c.2580T>G (p.Cys860Trp)
c.2646T>G (p.Cys882Trp)
c.2643T>G (p.Cys881Trp)
c.2616T>G (p.Cys872Trp)
c.2562T>G (p.Cys854Trp)
c.2535T>G (p.Cys845Trp)
c.2520T>G (p.Cys840Trp)
c.2127T>G (p.Cys709Trp)
c.2589T>G (p.Cys863Trp)
c.2526T>G (p.Cys842Trp)
c.2523T>G (p.Cys841Trp)
c.2481T>G (p.Cys827Trp)
c.1554T>G (p.Cys518Trp)
 COSMIC COSMIC COSMIC
20g.63406725A>GCA511339219KCNQ2c.2592T>C (p.Cys864=)
c.2538T>C (p.Cys846=)
c.1935T>C (p.Cys645=)
c.2445T>C (p.Cys815=)
c.2106T>C (p.Cys702=)
c.2454T>C (p.Cys818=)
c.2241+321T>C (n.2241+321T>C)
c.2205+321T>C (n.2205+321T>C)
c.2484T>C (p.Cys828=)
c.2133+321T>C (n.2133+321T>C)
c.1680-5882T>C (n.1680-5882T>C)
c.2580T>C (p.Cys860=)
c.2646T>C (p.Cys882=)
c.2643T>C (p.Cys881=)
c.2616T>C (p.Cys872=)
c.2562T>C (p.Cys854=)
c.2535T>C (p.Cys845=)
c.2520T>C (p.Cys840=)
c.2127T>C (p.Cys709=)
c.2589T>C (p.Cys863=)
c.2526T>C (p.Cys842=)
c.2523T>C (p.Cys841=)
c.2481T>C (p.Cys827=)
c.1554T>C (p.Cys518=)
20g.63406725A>TCA409636636KCNQ2c.2592T>A (p.Cys864Ter)
c.2538T>A (p.Cys846Ter)
c.1935T>A (p.Cys645Ter)
c.2445T>A (p.Cys815Ter)
c.2106T>A (p.Cys702Ter)
c.2454T>A (p.Cys818Ter)
c.2241+321T>A (n.2241+321T>A)
c.2205+321T>A (n.2205+321T>A)
c.2484T>A (p.Cys828Ter)
c.2133+321T>A (n.2133+321T>A)
c.1680-5882T>A (n.1680-5882T>A)
c.2580T>A (p.Cys860Ter)
c.2646T>A (p.Cys882Ter)
c.2643T>A (p.Cys881Ter)
c.2616T>A (p.Cys872Ter)
c.2562T>A (p.Cys854Ter)
c.2535T>A (p.Cys845Ter)
c.2520T>A (p.Cys840Ter)
c.2127T>A (p.Cys709Ter)
c.2589T>A (p.Cys863Ter)
c.2526T>A (p.Cys842Ter)
c.2523T>A (p.Cys841Ter)
c.2481T>A (p.Cys827Ter)
c.1554T>A (p.Cys518Ter)
20g.63406726C>ACA409636640KCNQ2c.2591G>T (p.Cys864Phe)
c.2537G>T (p.Cys846Phe)
c.1934G>T (p.Cys645Phe)
c.2444G>T (p.Cys815Phe)
c.2105G>T (p.Cys702Phe)
c.2453G>T (p.Cys818Phe)
c.2241+320G>T (n.2241+320G>T)
c.2205+320G>T (n.2205+320G>T)
c.2483G>T (p.Cys828Phe)
c.2133+320G>T (n.2133+320G>T)
c.1680-5883G>T (n.1680-5883G>T)
c.2579G>T (p.Cys860Phe)
c.2645G>T (p.Cys882Phe)
c.2642G>T (p.Cys881Phe)
c.2615G>T (p.Cys872Phe)
c.2561G>T (p.Cys854Phe)
c.2534G>T (p.Cys845Phe)
c.2519G>T (p.Cys840Phe)
c.2126G>T (p.Cys709Phe)
c.2588G>T (p.Cys863Phe)
c.2525G>T (p.Cys842Phe)
c.2522G>T (p.Cys841Phe)
c.2480G>T (p.Cys827Phe)
c.1553G>T (p.Cys518Phe)
20g.63406726C>GCA409636642KCNQ2c.2591G>C (p.Cys864Ser)
c.2537G>C (p.Cys846Ser)
c.1934G>C (p.Cys645Ser)
c.2444G>C (p.Cys815Ser)
c.2105G>C (p.Cys702Ser)
c.2453G>C (p.Cys818Ser)
c.2241+320G>C (n.2241+320G>C)
c.2205+320G>C (n.2205+320G>C)
c.2483G>C (p.Cys828Ser)
c.2133+320G>C (n.2133+320G>C)
c.1680-5883G>C (n.1680-5883G>C)
c.2579G>C (p.Cys860Ser)
c.2645G>C (p.Cys882Ser)
c.2642G>C (p.Cys881Ser)
c.2615G>C (p.Cys872Ser)
c.2561G>C (p.Cys854Ser)
c.2534G>C (p.Cys845Ser)
c.2519G>C (p.Cys840Ser)
c.2126G>C (p.Cys709Ser)
c.2588G>C (p.Cys863Ser)
c.2525G>C (p.Cys842Ser)
c.2522G>C (p.Cys841Ser)
c.2480G>C (p.Cys827Ser)
c.1553G>C (p.Cys518Ser)
20g.63406726C>TCA409636638KCNQ2c.2591G>A (p.Cys864Tyr)
c.2537G>A (p.Cys846Tyr)
c.1934G>A (p.Cys645Tyr)
c.2444G>A (p.Cys815Tyr)
c.2105G>A (p.Cys702Tyr)
c.2453G>A (p.Cys818Tyr)
c.2241+320G>A (n.2241+320G>A)
c.2205+320G>A (n.2205+320G>A)
c.2483G>A (p.Cys828Tyr)
c.2133+320G>A (n.2133+320G>A)
c.1680-5883G>A (n.1680-5883G>A)
c.2579G>A (p.Cys860Tyr)
c.2645G>A (p.Cys882Tyr)
c.2642G>A (p.Cys881Tyr)
c.2615G>A (p.Cys872Tyr)
c.2561G>A (p.Cys854Tyr)
c.2534G>A (p.Cys845Tyr)
c.2519G>A (p.Cys840Tyr)
c.2126G>A (p.Cys709Tyr)
c.2588G>A (p.Cys863Tyr)
c.2525G>A (p.Cys842Tyr)
c.2522G>A (p.Cys841Tyr)
c.2480G>A (p.Cys827Tyr)
c.1553G>A (p.Cys518Tyr)
 gnomAD v4
20g.63406727A=CA2374774221KCNQ2c.2590T= (p.Cys864=)
c.2536T= (p.Cys846=)
c.1933T= (p.Cys645=)
c.2443T= (p.Cys815=)
c.2104T= (p.Cys702=)
c.2452T= (p.Cys818=)
c.2241+319T= (n.2241+319T=)
c.2205+319T= (n.2205+319T=)
c.2482T= (p.Cys828=)
c.2133+319T= (n.2133+319T=)
c.1680-5884T= (n.1680-5884T=)
c.2578T= (p.Cys860=)
c.2644T= (p.Cys882=)
c.2641T= (p.Cys881=)
c.2614T= (p.Cys872=)
c.2560T= (p.Cys854=)
c.2533T= (p.Cys845=)
c.2518T= (p.Cys840=)
c.2125T= (p.Cys709=)
c.2587T= (p.Cys863=)
c.2524T= (p.Cys842=)
c.2521T= (p.Cys841=)
c.2479T= (p.Cys827=)
c.1552T= (p.Cys518=)
20g.63406727A>CCA409636649KCNQ2c.2590T>G (p.Cys864Gly)
c.2536T>G (p.Cys846Gly)
c.1933T>G (p.Cys645Gly)
c.2443T>G (p.Cys815Gly)
c.2104T>G (p.Cys702Gly)
c.2452T>G (p.Cys818Gly)
c.2241+319T>G (n.2241+319T>G)
c.2205+319T>G (n.2205+319T>G)
c.2482T>G (p.Cys828Gly)
c.2133+319T>G (n.2133+319T>G)
c.1680-5884T>G (n.1680-5884T>G)
c.2578T>G (p.Cys860Gly)
c.2644T>G (p.Cys882Gly)
c.2641T>G (p.Cys881Gly)
c.2614T>G (p.Cys872Gly)
c.2560T>G (p.Cys854Gly)
c.2533T>G (p.Cys845Gly)
c.2518T>G (p.Cys840Gly)
c.2125T>G (p.Cys709Gly)
c.2587T>G (p.Cys863Gly)
c.2524T>G (p.Cys842Gly)
c.2521T>G (p.Cys841Gly)
c.2479T>G (p.Cys827Gly)
c.1552T>G (p.Cys518Gly)
 ClinVar dbSNP
20g.63406727A>GCA409636645KCNQ2c.2590T>C (p.Cys864Arg)
c.2536T>C (p.Cys846Arg)
c.1933T>C (p.Cys645Arg)
c.2443T>C (p.Cys815Arg)
c.2104T>C (p.Cys702Arg)
c.2452T>C (p.Cys818Arg)
c.2241+319T>C (n.2241+319T>C)
c.2205+319T>C (n.2205+319T>C)
c.2482T>C (p.Cys828Arg)
c.2133+319T>C (n.2133+319T>C)
c.1680-5884T>C (n.1680-5884T>C)
c.2578T>C (p.Cys860Arg)
c.2644T>C (p.Cys882Arg)
c.2641T>C (p.Cys881Arg)
c.2614T>C (p.Cys872Arg)
c.2560T>C (p.Cys854Arg)
c.2533T>C (p.Cys845Arg)
c.2518T>C (p.Cys840Arg)
c.2125T>C (p.Cys709Arg)
c.2587T>C (p.Cys863Arg)
c.2524T>C (p.Cys842Arg)
c.2521T>C (p.Cys841Arg)
c.2479T>C (p.Cys827Arg)
c.1552T>C (p.Cys518Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
20g.63406727A>TCA409636647KCNQ2c.2590T>A (p.Cys864Ser)
c.2536T>A (p.Cys846Ser)
c.1933T>A (p.Cys645Ser)
c.2443T>A (p.Cys815Ser)
c.2104T>A (p.Cys702Ser)
c.2452T>A (p.Cys818Ser)
c.2241+319T>A (n.2241+319T>A)
c.2205+319T>A (n.2205+319T>A)
c.2482T>A (p.Cys828Ser)
c.2133+319T>A (n.2133+319T>A)
c.1680-5884T>A (n.1680-5884T>A)
c.2578T>A (p.Cys860Ser)
c.2644T>A (p.Cys882Ser)
c.2641T>A (p.Cys881Ser)
c.2614T>A (p.Cys872Ser)
c.2560T>A (p.Cys854Ser)
c.2533T>A (p.Cys845Ser)
c.2518T>A (p.Cys840Ser)
c.2125T>A (p.Cys709Ser)
c.2587T>A (p.Cys863Ser)
c.2524T>A (p.Cys842Ser)
c.2521T>A (p.Cys841Ser)
c.2479T>A (p.Cys827Ser)
c.1552T>A (p.Cys518Ser)
20g.63406728G>ACA511339220KCNQ2c.2589C>T (p.Leu863=)
c.2535C>T (p.Leu845=)
c.1932C>T (p.Leu644=)
c.2442C>T (p.Leu814=)
c.2103C>T (p.Leu701=)
c.2451C>T (p.Leu817=)
c.2241+318C>T (n.2241+318C>T)
c.2205+318C>T (n.2205+318C>T)
c.2481C>T (p.Leu827=)
c.2133+318C>T (n.2133+318C>T)
c.1680-5885C>T (n.1680-5885C>T)
c.2577C>T (p.Leu859=)
c.2643C>T (p.Leu881=)
c.2640C>T (p.Leu880=)
c.2613C>T (p.Leu871=)
c.2559C>T (p.Leu853=)
c.2532C>T (p.Leu844=)
c.2517C>T (p.Leu839=)
c.2124C>T (p.Leu708=)
c.2586C>T (p.Leu862=)
c.2523C>T (p.Leu841=)
c.2520C>T (p.Leu840=)
c.2478C>T (p.Leu826=)
c.1551C>T (p.Leu517=)
 gnomAD v4
20g.63406728G>CCA315324KCNQ2c.2589C>G (p.Leu863=)
c.2535C>G (p.Leu845=)
c.1932C>G (p.Leu644=)
c.2442C>G (p.Leu814=)
c.2103C>G (p.Leu701=)
c.2451C>G (p.Leu817=)
c.2241+318C>G (n.2241+318C>G)
c.2205+318C>G (n.2205+318C>G)
c.2481C>G (p.Leu827=)
c.2133+318C>G (n.2133+318C>G)
c.1680-5885C>G (n.1680-5885C>G)
c.2577C>G (p.Leu859=)
c.2643C>G (p.Leu881=)
c.2640C>G (p.Leu880=)
c.2613C>G (p.Leu871=)
c.2559C>G (p.Leu853=)
c.2532C>G (p.Leu844=)
c.2517C>G (p.Leu839=)
c.2124C>G (p.Leu708=)
c.2586C>G (p.Leu862=)
c.2523C>G (p.Leu841=)
c.2520C>G (p.Leu840=)
c.2478C>G (p.Leu826=)
c.1551C>G (p.Leu517=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406728G=CA2374774222KCNQ2c.2589C= (p.Leu863=)
c.2535C= (p.Leu845=)
c.1932C= (p.Leu644=)
c.2442C= (p.Leu814=)
c.2103C= (p.Leu701=)
c.2451C= (p.Leu817=)
c.2241+318C= (n.2241+318C=)
c.2205+318C= (n.2205+318C=)
c.2481C= (p.Leu827=)
c.2133+318C= (n.2133+318C=)
c.1680-5885C= (n.1680-5885C=)
c.2577C= (p.Leu859=)
c.2643C= (p.Leu881=)
c.2640C= (p.Leu880=)
c.2613C= (p.Leu871=)
c.2559C= (p.Leu853=)
c.2532C= (p.Leu844=)
c.2517C= (p.Leu839=)
c.2124C= (p.Leu708=)
c.2586C= (p.Leu862=)
c.2523C= (p.Leu841=)
c.2520C= (p.Leu840=)
c.2478C= (p.Leu826=)
c.1551C= (p.Leu517=)
20g.63406728G>TCA511339221KCNQ2c.2589C>A (p.Leu863=)
c.2535C>A (p.Leu845=)
c.1932C>A (p.Leu644=)
c.2442C>A (p.Leu814=)
c.2103C>A (p.Leu701=)
c.2451C>A (p.Leu817=)
c.2241+318C>A (n.2241+318C>A)
c.2205+318C>A (n.2205+318C>A)
c.2481C>A (p.Leu827=)
c.2133+318C>A (n.2133+318C>A)
c.1680-5885C>A (n.1680-5885C>A)
c.2577C>A (p.Leu859=)
c.2643C>A (p.Leu881=)
c.2640C>A (p.Leu880=)
c.2613C>A (p.Leu871=)
c.2559C>A (p.Leu853=)
c.2532C>A (p.Leu844=)
c.2517C>A (p.Leu839=)
c.2124C>A (p.Leu708=)
c.2586C>A (p.Leu862=)
c.2523C>A (p.Leu841=)
c.2520C>A (p.Leu840=)
c.2478C>A (p.Leu826=)
c.1551C>A (p.Leu517=)
20g.63406729A>CCA409636653KCNQ2c.2588T>G (p.Leu863Arg)
c.2534T>G (p.Leu845Arg)
c.1931T>G (p.Leu644Arg)
c.2441T>G (p.Leu814Arg)
c.2102T>G (p.Leu701Arg)
c.2450T>G (p.Leu817Arg)
c.2241+317T>G (n.2241+317T>G)
c.2205+317T>G (n.2205+317T>G)
c.2480T>G (p.Leu827Arg)
c.2133+317T>G (n.2133+317T>G)
c.1680-5886T>G (n.1680-5886T>G)
c.2576T>G (p.Leu859Arg)
c.2642T>G (p.Leu881Arg)
c.2639T>G (p.Leu880Arg)
c.2612T>G (p.Leu871Arg)
c.2558T>G (p.Leu853Arg)
c.2531T>G (p.Leu844Arg)
c.2516T>G (p.Leu839Arg)
c.2123T>G (p.Leu708Arg)
c.2585T>G (p.Leu862Arg)
c.2522T>G (p.Leu841Arg)
c.2519T>G (p.Leu840Arg)
c.2477T>G (p.Leu826Arg)
c.1550T>G (p.Leu517Arg)
20g.63406729A>GCA409636654KCNQ2c.2588T>C (p.Leu863Pro)
c.2534T>C (p.Leu845Pro)
c.1931T>C (p.Leu644Pro)
c.2441T>C (p.Leu814Pro)
c.2102T>C (p.Leu701Pro)
c.2450T>C (p.Leu817Pro)
c.2241+317T>C (n.2241+317T>C)
c.2205+317T>C (n.2205+317T>C)
c.2480T>C (p.Leu827Pro)
c.2133+317T>C (n.2133+317T>C)
c.1680-5886T>C (n.1680-5886T>C)
c.2576T>C (p.Leu859Pro)
c.2642T>C (p.Leu881Pro)
c.2639T>C (p.Leu880Pro)
c.2612T>C (p.Leu871Pro)
c.2558T>C (p.Leu853Pro)
c.2531T>C (p.Leu844Pro)
c.2516T>C (p.Leu839Pro)
c.2123T>C (p.Leu708Pro)
c.2585T>C (p.Leu862Pro)
c.2522T>C (p.Leu841Pro)
c.2519T>C (p.Leu840Pro)
c.2477T>C (p.Leu826Pro)
c.1550T>C (p.Leu517Pro)
 gnomAD v4
20g.63406729A>TCA409636656KCNQ2c.2588T>A (p.Leu863His)
c.2534T>A (p.Leu845His)
c.1931T>A (p.Leu644His)
c.2441T>A (p.Leu814His)
c.2102T>A (p.Leu701His)
c.2450T>A (p.Leu817His)
c.2241+317T>A (n.2241+317T>A)
c.2205+317T>A (n.2205+317T>A)
c.2480T>A (p.Leu827His)
c.2133+317T>A (n.2133+317T>A)
c.1680-5886T>A (n.1680-5886T>A)
c.2576T>A (p.Leu859His)
c.2642T>A (p.Leu881His)
c.2639T>A (p.Leu880His)
c.2612T>A (p.Leu871His)
c.2558T>A (p.Leu853His)
c.2531T>A (p.Leu844His)
c.2516T>A (p.Leu839His)
c.2123T>A (p.Leu708His)
c.2585T>A (p.Leu862His)
c.2522T>A (p.Leu841His)
c.2519T>A (p.Leu840His)
c.2477T>A (p.Leu826His)
c.1550T>A (p.Leu517His)
20g.63406730G>ACA409636660KCNQ2c.2587C>T (p.Leu863Phe)
c.2533C>T (p.Leu845Phe)
c.1930C>T (p.Leu644Phe)
c.2440C>T (p.Leu814Phe)
c.2101C>T (p.Leu701Phe)
c.2449C>T (p.Leu817Phe)
c.2241+316C>T (n.2241+316C>T)
c.2205+316C>T (n.2205+316C>T)
c.2479C>T (p.Leu827Phe)
c.2133+316C>T (n.2133+316C>T)
c.1680-5887C>T (n.1680-5887C>T)
c.2575C>T (p.Leu859Phe)
c.2641C>T (p.Leu881Phe)
c.2638C>T (p.Leu880Phe)
c.2611C>T (p.Leu871Phe)
c.2557C>T (p.Leu853Phe)
c.2530C>T (p.Leu844Phe)
c.2515C>T (p.Leu839Phe)
c.2122C>T (p.Leu708Phe)
c.2584C>T (p.Leu862Phe)
c.2521C>T (p.Leu841Phe)
c.2518C>T (p.Leu840Phe)
c.2476C>T (p.Leu826Phe)
c.1549C>T (p.Leu517Phe)
20g.63406730G>CCA409636658KCNQ2c.2587C>G (p.Leu863Val)
c.2533C>G (p.Leu845Val)
c.1930C>G (p.Leu644Val)
c.2440C>G (p.Leu814Val)
c.2101C>G (p.Leu701Val)
c.2449C>G (p.Leu817Val)
c.2241+316C>G (n.2241+316C>G)
c.2205+316C>G (n.2205+316C>G)
c.2479C>G (p.Leu827Val)
c.2133+316C>G (n.2133+316C>G)
c.1680-5887C>G (n.1680-5887C>G)
c.2575C>G (p.Leu859Val)
c.2641C>G (p.Leu881Val)
c.2638C>G (p.Leu880Val)
c.2611C>G (p.Leu871Val)
c.2557C>G (p.Leu853Val)
c.2530C>G (p.Leu844Val)
c.2515C>G (p.Leu839Val)
c.2122C>G (p.Leu708Val)
c.2584C>G (p.Leu862Val)
c.2521C>G (p.Leu841Val)
c.2518C>G (p.Leu840Val)
c.2476C>G (p.Leu826Val)
c.1549C>G (p.Leu517Val)
20g.63406730G>TCA409636659KCNQ2c.2587C>A (p.Leu863Ile)
c.2533C>A (p.Leu845Ile)
c.1930C>A (p.Leu644Ile)
c.2440C>A (p.Leu814Ile)
c.2101C>A (p.Leu701Ile)
c.2449C>A (p.Leu817Ile)
c.2241+316C>A (n.2241+316C>A)
c.2205+316C>A (n.2205+316C>A)
c.2479C>A (p.Leu827Ile)
c.2133+316C>A (n.2133+316C>A)
c.1680-5887C>A (n.1680-5887C>A)
c.2575C>A (p.Leu859Ile)
c.2641C>A (p.Leu881Ile)
c.2638C>A (p.Leu880Ile)
c.2611C>A (p.Leu871Ile)
c.2557C>A (p.Leu853Ile)
c.2530C>A (p.Leu844Ile)
c.2515C>A (p.Leu839Ile)
c.2122C>A (p.Leu708Ile)
c.2584C>A (p.Leu862Ile)
c.2521C>A (p.Leu841Ile)
c.2518C>A (p.Leu840Ile)
c.2476C>A (p.Leu826Ile)
c.1549C>A (p.Leu517Ile)
 gnomAD v4 COSMIC COSMIC COSMIC
20g.63406731delCA2573157284KCNQ2c.2587del (p.Leu863SerfsTer?)
c.2533del (p.Leu845SerfsTer?)
c.1930del (p.Leu644SerfsTer?)
c.2440del (p.Leu814SerfsTer?)
c.2101del (p.Leu701SerfsTer?)
c.2449del (p.Leu817SerfsTer?)
c.2241+316del (n.2241+316del)
c.2205+316del (n.2205+316del)
c.2479del (p.Leu827SerfsTer?)
c.2133+316del (n.2133+316del)
c.1680-5887del (n.1680-5887del)
c.2575del (p.Leu859SerfsTer?)
c.2641del (p.Leu881SerfsTer?)
c.2638del (p.Leu880SerfsTer?)
c.2611del (p.Leu871SerfsTer?)
c.2557del (p.Leu853SerfsTer?)
c.2530del (p.Leu844SerfsTer?)
c.2515del (p.Leu839SerfsTer?)
c.2122del (p.Leu708SerfsTer?)
c.2584del (p.Leu862SerfsTer?)
c.2521del (p.Leu841SerfsTer?)
c.2518del (p.Leu840SerfsTer?)
c.2476del (p.Leu826SerfsTer?)
c.1549del (p.Leu517SerfsTer?)
 ClinVar dbSNP
20g.63406731G>ACA511339222KCNQ2c.2586C>T (p.Asp862=)
c.2532C>T (p.Asp844=)
c.1929C>T (p.Asp643=)
c.2439C>T (p.Asp813=)
c.2100C>T (p.Asp700=)
c.2448C>T (p.Asp816=)
c.2241+315C>T (n.2241+315C>T)
c.2205+315C>T (n.2205+315C>T)
c.2478C>T (p.Asp826=)
c.2133+315C>T (n.2133+315C>T)
c.1680-5888C>T (n.1680-5888C>T)
c.2574C>T (p.Asp858=)
c.2640C>T (p.Asp880=)
c.2637C>T (p.Asp879=)
c.2610C>T (p.Asp870=)
c.2556C>T (p.Asp852=)
c.2529C>T (p.Asp843=)
c.2514C>T (p.Asp838=)
c.2121C>T (p.Asp707=)
c.2583C>T (p.Asp861=)
c.2520C>T (p.Asp840=)
c.2517C>T (p.Asp839=)
c.2475C>T (p.Asp825=)
c.1548C>T (p.Asp516=)
 gnomAD v4
20g.63406731G>CCA409636661KCNQ2c.2586C>G (p.Asp862Glu)
c.2532C>G (p.Asp844Glu)
c.1929C>G (p.Asp643Glu)
c.2439C>G (p.Asp813Glu)
c.2100C>G (p.Asp700Glu)
c.2448C>G (p.Asp816Glu)
c.2241+315C>G (n.2241+315C>G)
c.2205+315C>G (n.2205+315C>G)
c.2478C>G (p.Asp826Glu)
c.2133+315C>G (n.2133+315C>G)
c.1680-5888C>G (n.1680-5888C>G)
c.2574C>G (p.Asp858Glu)
c.2640C>G (p.Asp880Glu)
c.2637C>G (p.Asp879Glu)
c.2610C>G (p.Asp870Glu)
c.2556C>G (p.Asp852Glu)
c.2529C>G (p.Asp843Glu)
c.2514C>G (p.Asp838Glu)
c.2121C>G (p.Asp707Glu)
c.2583C>G (p.Asp861Glu)
c.2520C>G (p.Asp840Glu)
c.2517C>G (p.Asp839Glu)
c.2475C>G (p.Asp825Glu)
c.1548C>G (p.Asp516Glu)
20g.63406731G>TCA409636662KCNQ2c.2586C>A (p.Asp862Glu)
c.2532C>A (p.Asp844Glu)
c.1929C>A (p.Asp643Glu)
c.2439C>A (p.Asp813Glu)
c.2100C>A (p.Asp700Glu)
c.2448C>A (p.Asp816Glu)
c.2241+315C>A (n.2241+315C>A)
c.2205+315C>A (n.2205+315C>A)
c.2478C>A (p.Asp826Glu)
c.2133+315C>A (n.2133+315C>A)
c.1680-5888C>A (n.1680-5888C>A)
c.2574C>A (p.Asp858Glu)
c.2640C>A (p.Asp880Glu)
c.2637C>A (p.Asp879Glu)
c.2610C>A (p.Asp870Glu)
c.2556C>A (p.Asp852Glu)
c.2529C>A (p.Asp843Glu)
c.2514C>A (p.Asp838Glu)
c.2121C>A (p.Asp707Glu)
c.2583C>A (p.Asp861Glu)
c.2520C>A (p.Asp840Glu)
c.2517C>A (p.Asp839Glu)
c.2475C>A (p.Asp825Glu)
c.1548C>A (p.Asp516Glu)
 gnomAD v4
20g.63406732T>ACA409636665KCNQ2c.2585A>T (p.Asp862Val)
c.2531A>T (p.Asp844Val)
c.1928A>T (p.Asp643Val)
c.2438A>T (p.Asp813Val)
c.2099A>T (p.Asp700Val)
c.2447A>T (p.Asp816Val)
c.2241+314A>T (n.2241+314A>T)
c.2205+314A>T (n.2205+314A>T)
c.2477A>T (p.Asp826Val)
c.2133+314A>T (n.2133+314A>T)
c.1680-5889A>T (n.1680-5889A>T)
c.2573A>T (p.Asp858Val)
c.2639A>T (p.Asp880Val)
c.2636A>T (p.Asp879Val)
c.2609A>T (p.Asp870Val)
c.2555A>T (p.Asp852Val)
c.2528A>T (p.Asp843Val)
c.2513A>T (p.Asp838Val)
c.2120A>T (p.Asp707Val)
c.2582A>T (p.Asp861Val)
c.2519A>T (p.Asp840Val)
c.2516A>T (p.Asp839Val)
c.2474A>T (p.Asp825Val)
c.1547A>T (p.Asp516Val)
20g.63406732T>CCA409636667KCNQ2c.2585A>G (p.Asp862Gly)
c.2531A>G (p.Asp844Gly)
c.1928A>G (p.Asp643Gly)
c.2438A>G (p.Asp813Gly)
c.2099A>G (p.Asp700Gly)
c.2447A>G (p.Asp816Gly)
c.2241+314A>G (n.2241+314A>G)
c.2205+314A>G (n.2205+314A>G)
c.2477A>G (p.Asp826Gly)
c.2133+314A>G (n.2133+314A>G)
c.1680-5889A>G (n.1680-5889A>G)
c.2573A>G (p.Asp858Gly)
c.2639A>G (p.Asp880Gly)
c.2636A>G (p.Asp879Gly)
c.2609A>G (p.Asp870Gly)
c.2555A>G (p.Asp852Gly)
c.2528A>G (p.Asp843Gly)
c.2513A>G (p.Asp838Gly)
c.2120A>G (p.Asp707Gly)
c.2582A>G (p.Asp861Gly)
c.2519A>G (p.Asp840Gly)
c.2516A>G (p.Asp839Gly)
c.2474A>G (p.Asp825Gly)
c.1547A>G (p.Asp516Gly)
 ClinVar
20g.63406732T>GCA409636669KCNQ2c.2585A>C (p.Asp862Ala)
c.2531A>C (p.Asp844Ala)
c.1928A>C (p.Asp643Ala)
c.2438A>C (p.Asp813Ala)
c.2099A>C (p.Asp700Ala)
c.2447A>C (p.Asp816Ala)
c.2241+314A>C (n.2241+314A>C)
c.2205+314A>C (n.2205+314A>C)
c.2477A>C (p.Asp826Ala)
c.2133+314A>C (n.2133+314A>C)
c.1680-5889A>C (n.1680-5889A>C)
c.2573A>C (p.Asp858Ala)
c.2639A>C (p.Asp880Ala)
c.2636A>C (p.Asp879Ala)
c.2609A>C (p.Asp870Ala)
c.2555A>C (p.Asp852Ala)
c.2528A>C (p.Asp843Ala)
c.2513A>C (p.Asp838Ala)
c.2120A>C (p.Asp707Ala)
c.2582A>C (p.Asp861Ala)
c.2519A>C (p.Asp840Ala)
c.2516A>C (p.Asp839Ala)
c.2474A>C (p.Asp825Ala)
c.1547A>C (p.Asp516Ala)
 dbSNP gnomAD v2 gnomAD v4
20g.63406732T=CA2374774223KCNQ2c.2585A= (p.Asp862=)
c.2531A= (p.Asp844=)
c.1928A= (p.Asp643=)
c.2438A= (p.Asp813=)
c.2099A= (p.Asp700=)
c.2447A= (p.Asp816=)
c.2241+314A= (n.2241+314A=)
c.2205+314A= (n.2205+314A=)
c.2477A= (p.Asp826=)
c.2133+314A= (n.2133+314A=)
c.1680-5889A= (n.1680-5889A=)
c.2573A= (p.Asp858=)
c.2639A= (p.Asp880=)
c.2636A= (p.Asp879=)
c.2609A= (p.Asp870=)
c.2555A= (p.Asp852=)
c.2528A= (p.Asp843=)
c.2513A= (p.Asp838=)
c.2120A= (p.Asp707=)
c.2582A= (p.Asp861=)
c.2519A= (p.Asp840=)
c.2516A= (p.Asp839=)
c.2474A= (p.Asp825=)
c.1547A= (p.Asp516=)
20g.63406733C>ACA409636671KCNQ2c.2584G>T (p.Asp862Tyr)
c.2530G>T (p.Asp844Tyr)
c.1927G>T (p.Asp643Tyr)
c.2437G>T (p.Asp813Tyr)
c.2098G>T (p.Asp700Tyr)
c.2446G>T (p.Asp816Tyr)
c.2241+313G>T (n.2241+313G>T)
c.2205+313G>T (n.2205+313G>T)
c.2476G>T (p.Asp826Tyr)
c.2133+313G>T (n.2133+313G>T)
c.1680-5890G>T (n.1680-5890G>T)
c.2572G>T (p.Asp858Tyr)
c.2638G>T (p.Asp880Tyr)
c.2635G>T (p.Asp879Tyr)
c.2608G>T (p.Asp870Tyr)
c.2554G>T (p.Asp852Tyr)
c.2527G>T (p.Asp843Tyr)
c.2512G>T (p.Asp838Tyr)
c.2119G>T (p.Asp707Tyr)
c.2581G>T (p.Asp861Tyr)
c.2518G>T (p.Asp840Tyr)
c.2515G>T (p.Asp839Tyr)
c.2473G>T (p.Asp825Tyr)
c.1546G>T (p.Asp516Tyr)
 gnomAD v4
20g.63406733C>GCA409636675KCNQ2c.2584G>C (p.Asp862His)
c.2530G>C (p.Asp844His)
c.1927G>C (p.Asp643His)
c.2437G>C (p.Asp813His)
c.2098G>C (p.Asp700His)
c.2446G>C (p.Asp816His)
c.2241+313G>C (n.2241+313G>C)
c.2205+313G>C (n.2205+313G>C)
c.2476G>C (p.Asp826His)
c.2133+313G>C (n.2133+313G>C)
c.1680-5890G>C (n.1680-5890G>C)
c.2572G>C (p.Asp858His)
c.2638G>C (p.Asp880His)
c.2635G>C (p.Asp879His)
c.2608G>C (p.Asp870His)
c.2554G>C (p.Asp852His)
c.2527G>C (p.Asp843His)
c.2512G>C (p.Asp838His)
c.2119G>C (p.Asp707His)
c.2581G>C (p.Asp861His)
c.2518G>C (p.Asp840His)
c.2515G>C (p.Asp839His)
c.2473G>C (p.Asp825His)
c.1546G>C (p.Asp516His)
20g.63406733C>TCA409636673KCNQ2c.2584G>A (p.Asp862Asn)
c.2530G>A (p.Asp844Asn)
c.1927G>A (p.Asp643Asn)
c.2437G>A (p.Asp813Asn)
c.2098G>A (p.Asp700Asn)
c.2446G>A (p.Asp816Asn)
c.2241+313G>A (n.2241+313G>A)
c.2205+313G>A (n.2205+313G>A)
c.2476G>A (p.Asp826Asn)
c.2133+313G>A (n.2133+313G>A)
c.1680-5890G>A (n.1680-5890G>A)
c.2572G>A (p.Asp858Asn)
c.2638G>A (p.Asp880Asn)
c.2635G>A (p.Asp879Asn)
c.2608G>A (p.Asp870Asn)
c.2554G>A (p.Asp852Asn)
c.2527G>A (p.Asp843Asn)
c.2512G>A (p.Asp838Asn)
c.2119G>A (p.Asp707Asn)
c.2581G>A (p.Asp861Asn)
c.2518G>A (p.Asp840Asn)
c.2515G>A (p.Asp839Asn)
c.2473G>A (p.Asp825Asn)
c.1546G>A (p.Asp516Asn)
 gnomAD v4 COSMIC COSMIC COSMIC
20g.63406734G>ACA291815KCNQ2c.2583C>T (p.Ser861=)
c.2529C>T (p.Ser843=)
c.1926C>T (p.Ser642=)
c.2436C>T (p.Ser812=)
c.2097C>T (p.Ser699=)
c.2445C>T (p.Ser815=)
c.2241+312C>T (n.2241+312C>T)
c.2205+312C>T (n.2205+312C>T)
c.2475C>T (p.Ser825=)
c.2133+312C>T (n.2133+312C>T)
c.1680-5891C>T (n.1680-5891C>T)
c.2571C>T (p.Ser857=)
c.2637C>T (p.Ser879=)
c.2634C>T (p.Ser878=)
c.2607C>T (p.Ser869=)
c.2553C>T (p.Ser851=)
c.2526C>T (p.Ser842=)
c.2511C>T (p.Ser837=)
c.2118C>T (p.Ser706=)
c.2580C>T (p.Ser860=)
c.2517C>T (p.Ser839=)
c.2514C>T (p.Ser838=)
c.2472C>T (p.Ser824=)
c.1545C>T (p.Ser515=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406734G>CCA511339223KCNQ2c.2583C>G (p.Ser861=)
c.2529C>G (p.Ser843=)
c.1926C>G (p.Ser642=)
c.2436C>G (p.Ser812=)
c.2097C>G (p.Ser699=)
c.2445C>G (p.Ser815=)
c.2241+312C>G (n.2241+312C>G)
c.2205+312C>G (n.2205+312C>G)
c.2475C>G (p.Ser825=)
c.2133+312C>G (n.2133+312C>G)
c.1680-5891C>G (n.1680-5891C>G)
c.2571C>G (p.Ser857=)
c.2637C>G (p.Ser879=)
c.2634C>G (p.Ser878=)
c.2607C>G (p.Ser869=)
c.2553C>G (p.Ser851=)
c.2526C>G (p.Ser842=)
c.2511C>G (p.Ser837=)
c.2118C>G (p.Ser706=)
c.2580C>G (p.Ser860=)
c.2517C>G (p.Ser839=)
c.2514C>G (p.Ser838=)
c.2472C>G (p.Ser824=)
c.1545C>G (p.Ser515=)
20g.63406734G=CA2374774224KCNQ2c.2583C= (p.Ser861=)
c.2529C= (p.Ser843=)
c.1926C= (p.Ser642=)
c.2436C= (p.Ser812=)
c.2097C= (p.Ser699=)
c.2445C= (p.Ser815=)
c.2241+312C= (n.2241+312C=)
c.2205+312C= (n.2205+312C=)
c.2475C= (p.Ser825=)
c.2133+312C= (n.2133+312C=)
c.1680-5891C= (n.1680-5891C=)
c.2571C= (p.Ser857=)
c.2637C= (p.Ser879=)
c.2634C= (p.Ser878=)
c.2607C= (p.Ser869=)
c.2553C= (p.Ser851=)
c.2526C= (p.Ser842=)
c.2511C= (p.Ser837=)
c.2118C= (p.Ser706=)
c.2580C= (p.Ser860=)
c.2517C= (p.Ser839=)
c.2514C= (p.Ser838=)
c.2472C= (p.Ser824=)
c.1545C= (p.Ser515=)
20g.63406734G>TCA9958064KCNQ2c.2583C>A (p.Ser861=)
c.2529C>A (p.Ser843=)
c.1926C>A (p.Ser642=)
c.2436C>A (p.Ser812=)
c.2097C>A (p.Ser699=)
c.2445C>A (p.Ser815=)
c.2241+312C>A (n.2241+312C>A)
c.2205+312C>A (n.2205+312C>A)
c.2475C>A (p.Ser825=)
c.2133+312C>A (n.2133+312C>A)
c.1680-5891C>A (n.1680-5891C>A)
c.2571C>A (p.Ser857=)
c.2637C>A (p.Ser879=)
c.2634C>A (p.Ser878=)
c.2607C>A (p.Ser869=)
c.2553C>A (p.Ser851=)
c.2526C>A (p.Ser842=)
c.2511C>A (p.Ser837=)
c.2118C>A (p.Ser706=)
c.2580C>A (p.Ser860=)
c.2517C>A (p.Ser839=)
c.2514C>A (p.Ser838=)
c.2472C>A (p.Ser824=)
c.1545C>A (p.Ser515=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406735G>ACA409636680KCNQ2c.2582C>T (p.Ser861Phe)
c.2528C>T (p.Ser843Phe)
c.1925C>T (p.Ser642Phe)
c.2435C>T (p.Ser812Phe)
c.2096C>T (p.Ser699Phe)
c.2444C>T (p.Ser815Phe)
c.2241+311C>T (n.2241+311C>T)
c.2205+311C>T (n.2205+311C>T)
c.2474C>T (p.Ser825Phe)
c.2133+311C>T (n.2133+311C>T)
c.1680-5892C>T (n.1680-5892C>T)
c.2570C>T (p.Ser857Phe)
c.2636C>T (p.Ser879Phe)
c.2633C>T (p.Ser878Phe)
c.2606C>T (p.Ser869Phe)
c.2552C>T (p.Ser851Phe)
c.2525C>T (p.Ser842Phe)
c.2510C>T (p.Ser837Phe)
c.2117C>T (p.Ser706Phe)
c.2579C>T (p.Ser860Phe)
c.2516C>T (p.Ser839Phe)
c.2513C>T (p.Ser838Phe)
c.2471C>T (p.Ser824Phe)
c.1544C>T (p.Ser515Phe)
20g.63406735G>CCA409636681KCNQ2c.2582C>G (p.Ser861Cys)
c.2528C>G (p.Ser843Cys)
c.1925C>G (p.Ser642Cys)
c.2435C>G (p.Ser812Cys)
c.2096C>G (p.Ser699Cys)
c.2444C>G (p.Ser815Cys)
c.2241+311C>G (n.2241+311C>G)
c.2205+311C>G (n.2205+311C>G)
c.2474C>G (p.Ser825Cys)
c.2133+311C>G (n.2133+311C>G)
c.1680-5892C>G (n.1680-5892C>G)
c.2570C>G (p.Ser857Cys)
c.2636C>G (p.Ser879Cys)
c.2633C>G (p.Ser878Cys)
c.2606C>G (p.Ser869Cys)
c.2552C>G (p.Ser851Cys)
c.2525C>G (p.Ser842Cys)
c.2510C>G (p.Ser837Cys)
c.2117C>G (p.Ser706Cys)
c.2579C>G (p.Ser860Cys)
c.2516C>G (p.Ser839Cys)
c.2513C>G (p.Ser838Cys)
c.2471C>G (p.Ser824Cys)
c.1544C>G (p.Ser515Cys)
20g.63406735G>TCA409636682KCNQ2c.2582C>A (p.Ser861Tyr)
c.2528C>A (p.Ser843Tyr)
c.1925C>A (p.Ser642Tyr)
c.2435C>A (p.Ser812Tyr)
c.2096C>A (p.Ser699Tyr)
c.2444C>A (p.Ser815Tyr)
c.2241+311C>A (n.2241+311C>A)
c.2205+311C>A (n.2205+311C>A)
c.2474C>A (p.Ser825Tyr)
c.2133+311C>A (n.2133+311C>A)
c.1680-5892C>A (n.1680-5892C>A)
c.2570C>A (p.Ser857Tyr)
c.2636C>A (p.Ser879Tyr)
c.2633C>A (p.Ser878Tyr)
c.2606C>A (p.Ser869Tyr)
c.2552C>A (p.Ser851Tyr)
c.2525C>A (p.Ser842Tyr)
c.2510C>A (p.Ser837Tyr)
c.2117C>A (p.Ser706Tyr)
c.2579C>A (p.Ser860Tyr)
c.2516C>A (p.Ser839Tyr)
c.2513C>A (p.Ser838Tyr)
c.2471C>A (p.Ser824Tyr)
c.1544C>A (p.Ser515Tyr)
20g.63406736A=CA2374774225KCNQ2c.2581T= (p.Ser861=)
c.2527T= (p.Ser843=)
c.1924T= (p.Ser642=)
c.2434T= (p.Ser812=)
c.2095T= (p.Ser699=)
c.2443T= (p.Ser815=)
c.2241+310T= (n.2241+310T=)
c.2205+310T= (n.2205+310T=)
c.2473T= (p.Ser825=)
c.2133+310T= (n.2133+310T=)
c.1680-5893T= (n.1680-5893T=)
c.2569T= (p.Ser857=)
c.2635T= (p.Ser879=)
c.2632T= (p.Ser878=)
c.2605T= (p.Ser869=)
c.2551T= (p.Ser851=)
c.2524T= (p.Ser842=)
c.2509T= (p.Ser837=)
c.2116T= (p.Ser706=)
c.2578T= (p.Ser860=)
c.2515T= (p.Ser839=)
c.2512T= (p.Ser838=)
c.2470T= (p.Ser824=)
c.1543T= (p.Ser515=)
20g.63406736A>CCA409636685KCNQ2c.2581T>G (p.Ser861Ala)
c.2527T>G (p.Ser843Ala)
c.1924T>G (p.Ser642Ala)
c.2434T>G (p.Ser812Ala)
c.2095T>G (p.Ser699Ala)
c.2443T>G (p.Ser815Ala)
c.2241+310T>G (n.2241+310T>G)
c.2205+310T>G (n.2205+310T>G)
c.2473T>G (p.Ser825Ala)
c.2133+310T>G (n.2133+310T>G)
c.1680-5893T>G (n.1680-5893T>G)
c.2569T>G (p.Ser857Ala)
c.2635T>G (p.Ser879Ala)
c.2632T>G (p.Ser878Ala)
c.2605T>G (p.Ser869Ala)
c.2551T>G (p.Ser851Ala)
c.2524T>G (p.Ser842Ala)
c.2509T>G (p.Ser837Ala)
c.2116T>G (p.Ser706Ala)
c.2578T>G (p.Ser860Ala)
c.2515T>G (p.Ser839Ala)
c.2512T>G (p.Ser838Ala)
c.2470T>G (p.Ser824Ala)
c.1543T>G (p.Ser515Ala)
20g.63406736A>GCA409636687KCNQ2c.2581T>C (p.Ser861Pro)
c.2527T>C (p.Ser843Pro)
c.1924T>C (p.Ser642Pro)
c.2434T>C (p.Ser812Pro)
c.2095T>C (p.Ser699Pro)
c.2443T>C (p.Ser815Pro)
c.2241+310T>C (n.2241+310T>C)
c.2205+310T>C (n.2205+310T>C)
c.2473T>C (p.Ser825Pro)
c.2133+310T>C (n.2133+310T>C)
c.1680-5893T>C (n.1680-5893T>C)
c.2569T>C (p.Ser857Pro)
c.2635T>C (p.Ser879Pro)
c.2632T>C (p.Ser878Pro)
c.2605T>C (p.Ser869Pro)
c.2551T>C (p.Ser851Pro)
c.2524T>C (p.Ser842Pro)
c.2509T>C (p.Ser837Pro)
c.2116T>C (p.Ser706Pro)
c.2578T>C (p.Ser860Pro)
c.2515T>C (p.Ser839Pro)
c.2512T>C (p.Ser838Pro)
c.2470T>C (p.Ser824Pro)
c.1543T>C (p.Ser515Pro)
 dbSNP gnomAD v2
20g.63406736A>TCA409636688KCNQ2c.2581T>A (p.Ser861Thr)
c.2527T>A (p.Ser843Thr)
c.1924T>A (p.Ser642Thr)
c.2434T>A (p.Ser812Thr)
c.2095T>A (p.Ser699Thr)
c.2443T>A (p.Ser815Thr)
c.2241+310T>A (n.2241+310T>A)
c.2205+310T>A (n.2205+310T>A)
c.2473T>A (p.Ser825Thr)
c.2133+310T>A (n.2133+310T>A)
c.1680-5893T>A (n.1680-5893T>A)
c.2569T>A (p.Ser857Thr)
c.2635T>A (p.Ser879Thr)
c.2632T>A (p.Ser878Thr)
c.2605T>A (p.Ser869Thr)
c.2551T>A (p.Ser851Thr)
c.2524T>A (p.Ser842Thr)
c.2509T>A (p.Ser837Thr)
c.2116T>A (p.Ser706Thr)
c.2578T>A (p.Ser860Thr)
c.2515T>A (p.Ser839Thr)
c.2512T>A (p.Ser838Thr)
c.2470T>A (p.Ser824Thr)
c.1543T>A (p.Ser515Thr)
20g.63406737G>ACA511339224KCNQ2c.2580C>T (p.Asp860=)
c.2526C>T (p.Asp842=)
c.1923C>T (p.Asp641=)
c.2433C>T (p.Asp811=)
c.2094C>T (p.Asp698=)
c.2442C>T (p.Asp814=)
c.2241+309C>T (n.2241+309C>T)
c.2205+309C>T (n.2205+309C>T)
c.2472C>T (p.Asp824=)
c.2133+309C>T (n.2133+309C>T)
c.1680-5894C>T (n.1680-5894C>T)
c.2568C>T (p.Asp856=)
c.2634C>T (p.Asp878=)
c.2631C>T (p.Asp877=)
c.2604C>T (p.Asp868=)
c.2550C>T (p.Asp850=)
c.2523C>T (p.Asp841=)
c.2508C>T (p.Asp836=)
c.2115C>T (p.Asp705=)
c.2577C>T (p.Asp859=)
c.2514C>T (p.Asp838=)
c.2511C>T (p.Asp837=)
c.2469C>T (p.Asp823=)
c.1542C>T (p.Asp514=)
 dbSNP gnomAD v3 gnomAD v4
20g.63406737G>CCA409636690KCNQ2c.2580C>G (p.Asp860Glu)
c.2526C>G (p.Asp842Glu)
c.1923C>G (p.Asp641Glu)
c.2433C>G (p.Asp811Glu)
c.2094C>G (p.Asp698Glu)
c.2442C>G (p.Asp814Glu)
c.2241+309C>G (n.2241+309C>G)
c.2205+309C>G (n.2205+309C>G)
c.2472C>G (p.Asp824Glu)
c.2133+309C>G (n.2133+309C>G)
c.1680-5894C>G (n.1680-5894C>G)
c.2568C>G (p.Asp856Glu)
c.2634C>G (p.Asp878Glu)
c.2631C>G (p.Asp877Glu)
c.2604C>G (p.Asp868Glu)
c.2550C>G (p.Asp850Glu)
c.2523C>G (p.Asp841Glu)
c.2508C>G (p.Asp836Glu)
c.2115C>G (p.Asp705Glu)
c.2577C>G (p.Asp859Glu)
c.2514C>G (p.Asp838Glu)
c.2511C>G (p.Asp837Glu)
c.2469C>G (p.Asp823Glu)
c.1542C>G (p.Asp514Glu)
20g.63406737G=CA2374774226KCNQ2c.2580C= (p.Asp860=)
c.2526C= (p.Asp842=)
c.1923C= (p.Asp641=)
c.2433C= (p.Asp811=)
c.2094C= (p.Asp698=)
c.2442C= (p.Asp814=)
c.2241+309C= (n.2241+309C=)
c.2205+309C= (n.2205+309C=)
c.2472C= (p.Asp824=)
c.2133+309C= (n.2133+309C=)
c.1680-5894C= (n.1680-5894C=)
c.2568C= (p.Asp856=)
c.2634C= (p.Asp878=)
c.2631C= (p.Asp877=)
c.2604C= (p.Asp868=)
c.2550C= (p.Asp850=)
c.2523C= (p.Asp841=)
c.2508C= (p.Asp836=)
c.2115C= (p.Asp705=)
c.2577C= (p.Asp859=)
c.2514C= (p.Asp838=)
c.2511C= (p.Asp837=)
c.2469C= (p.Asp823=)
c.1542C= (p.Asp514=)
20g.63406737G>TCA409636692KCNQ2c.2580C>A (p.Asp860Glu)
c.2526C>A (p.Asp842Glu)
c.1923C>A (p.Asp641Glu)
c.2433C>A (p.Asp811Glu)
c.2094C>A (p.Asp698Glu)
c.2442C>A (p.Asp814Glu)
c.2241+309C>A (n.2241+309C>A)
c.2205+309C>A (n.2205+309C>A)
c.2472C>A (p.Asp824Glu)
c.2133+309C>A (n.2133+309C>A)
c.1680-5894C>A (n.1680-5894C>A)
c.2568C>A (p.Asp856Glu)
c.2634C>A (p.Asp878Glu)
c.2631C>A (p.Asp877Glu)
c.2604C>A (p.Asp868Glu)
c.2550C>A (p.Asp850Glu)
c.2523C>A (p.Asp841Glu)
c.2508C>A (p.Asp836Glu)
c.2115C>A (p.Asp705Glu)
c.2577C>A (p.Asp859Glu)
c.2514C>A (p.Asp838Glu)
c.2511C>A (p.Asp837Glu)
c.2469C>A (p.Asp823Glu)
c.1542C>A (p.Asp514Glu)
20g.63406738T>ACA409636698KCNQ2c.2579A>T (p.Asp860Val)
c.2525A>T (p.Asp842Val)
c.1922A>T (p.Asp641Val)
c.2432A>T (p.Asp811Val)
c.2093A>T (p.Asp698Val)
c.2441A>T (p.Asp814Val)
c.2241+308A>T (n.2241+308A>T)
c.2205+308A>T (n.2205+308A>T)
c.2471A>T (p.Asp824Val)
c.2133+308A>T (n.2133+308A>T)
c.1680-5895A>T (n.1680-5895A>T)
c.2567A>T (p.Asp856Val)
c.2633A>T (p.Asp878Val)
c.2630A>T (p.Asp877Val)
c.2603A>T (p.Asp868Val)
c.2549A>T (p.Asp850Val)
c.2522A>T (p.Asp841Val)
c.2507A>T (p.Asp836Val)
c.2114A>T (p.Asp705Val)
c.2576A>T (p.Asp859Val)
c.2513A>T (p.Asp838Val)
c.2510A>T (p.Asp837Val)
c.2468A>T (p.Asp823Val)
c.1541A>T (p.Asp514Val)
20g.63406738T>CCA409636696KCNQ2c.2579A>G (p.Asp860Gly)
c.2525A>G (p.Asp842Gly)
c.1922A>G (p.Asp641Gly)
c.2432A>G (p.Asp811Gly)
c.2093A>G (p.Asp698Gly)
c.2441A>G (p.Asp814Gly)
c.2241+308A>G (n.2241+308A>G)
c.2205+308A>G (n.2205+308A>G)
c.2471A>G (p.Asp824Gly)
c.2133+308A>G (n.2133+308A>G)
c.1680-5895A>G (n.1680-5895A>G)
c.2567A>G (p.Asp856Gly)
c.2633A>G (p.Asp878Gly)
c.2630A>G (p.Asp877Gly)
c.2603A>G (p.Asp868Gly)
c.2549A>G (p.Asp850Gly)
c.2522A>G (p.Asp841Gly)
c.2507A>G (p.Asp836Gly)
c.2114A>G (p.Asp705Gly)
c.2576A>G (p.Asp859Gly)
c.2513A>G (p.Asp838Gly)
c.2510A>G (p.Asp837Gly)
c.2468A>G (p.Asp823Gly)
c.1541A>G (p.Asp514Gly)
20g.63406738T>GCA409636695KCNQ2c.2579A>C (p.Asp860Ala)
c.2525A>C (p.Asp842Ala)
c.1922A>C (p.Asp641Ala)
c.2432A>C (p.Asp811Ala)
c.2093A>C (p.Asp698Ala)
c.2441A>C (p.Asp814Ala)
c.2241+308A>C (n.2241+308A>C)
c.2205+308A>C (n.2205+308A>C)
c.2471A>C (p.Asp824Ala)
c.2133+308A>C (n.2133+308A>C)
c.1680-5895A>C (n.1680-5895A>C)
c.2567A>C (p.Asp856Ala)
c.2633A>C (p.Asp878Ala)
c.2630A>C (p.Asp877Ala)
c.2603A>C (p.Asp868Ala)
c.2549A>C (p.Asp850Ala)
c.2522A>C (p.Asp841Ala)
c.2507A>C (p.Asp836Ala)
c.2114A>C (p.Asp705Ala)
c.2576A>C (p.Asp859Ala)
c.2513A>C (p.Asp838Ala)
c.2510A>C (p.Asp837Ala)
c.2468A>C (p.Asp823Ala)
c.1541A>C (p.Asp514Ala)
20g.63406739C>ACA409636701KCNQ2c.2578G>T (p.Asp860Tyr)
c.2524G>T (p.Asp842Tyr)
c.1921G>T (p.Asp641Tyr)
c.2431G>T (p.Asp811Tyr)
c.2092G>T (p.Asp698Tyr)
c.2440G>T (p.Asp814Tyr)
c.2241+307G>T (n.2241+307G>T)
c.2205+307G>T (n.2205+307G>T)
c.2470G>T (p.Asp824Tyr)
c.2133+307G>T (n.2133+307G>T)
c.1680-5896G>T (n.1680-5896G>T)
c.2566G>T (p.Asp856Tyr)
c.2632G>T (p.Asp878Tyr)
c.2629G>T (p.Asp877Tyr)
c.2602G>T (p.Asp868Tyr)
c.2548G>T (p.Asp850Tyr)
c.2521G>T (p.Asp841Tyr)
c.2506G>T (p.Asp836Tyr)
c.2113G>T (p.Asp705Tyr)
c.2575G>T (p.Asp859Tyr)
c.2512G>T (p.Asp838Tyr)
c.2509G>T (p.Asp837Tyr)
c.2467G>T (p.Asp823Tyr)
c.1540G>T (p.Asp514Tyr)
20g.63406739C>GCA409636702KCNQ2c.2578G>C (p.Asp860His)
c.2524G>C (p.Asp842His)
c.1921G>C (p.Asp641His)
c.2431G>C (p.Asp811His)
c.2092G>C (p.Asp698His)
c.2440G>C (p.Asp814His)
c.2241+307G>C (n.2241+307G>C)
c.2205+307G>C (n.2205+307G>C)
c.2470G>C (p.Asp824His)
c.2133+307G>C (n.2133+307G>C)
c.1680-5896G>C (n.1680-5896G>C)
c.2566G>C (p.Asp856His)
c.2632G>C (p.Asp878His)
c.2629G>C (p.Asp877His)
c.2602G>C (p.Asp868His)
c.2548G>C (p.Asp850His)
c.2521G>C (p.Asp841His)
c.2506G>C (p.Asp836His)
c.2113G>C (p.Asp705His)
c.2575G>C (p.Asp859His)
c.2512G>C (p.Asp838His)
c.2509G>C (p.Asp837His)
c.2467G>C (p.Asp823His)
c.1540G>C (p.Asp514His)
 ClinVar
20g.63406739C>TCA409636705KCNQ2c.2578G>A (p.Asp860Asn)
c.2524G>A (p.Asp842Asn)
c.1921G>A (p.Asp641Asn)
c.2431G>A (p.Asp811Asn)
c.2092G>A (p.Asp698Asn)
c.2440G>A (p.Asp814Asn)
c.2241+307G>A (n.2241+307G>A)
c.2205+307G>A (n.2205+307G>A)
c.2470G>A (p.Asp824Asn)
c.2133+307G>A (n.2133+307G>A)
c.1680-5896G>A (n.1680-5896G>A)
c.2566G>A (p.Asp856Asn)
c.2632G>A (p.Asp878Asn)
c.2629G>A (p.Asp877Asn)
c.2602G>A (p.Asp868Asn)
c.2548G>A (p.Asp850Asn)
c.2521G>A (p.Asp841Asn)
c.2506G>A (p.Asp836Asn)
c.2113G>A (p.Asp705Asn)
c.2575G>A (p.Asp859Asn)
c.2512G>A (p.Asp838Asn)
c.2509G>A (p.Asp837Asn)
c.2467G>A (p.Asp823Asn)
c.1540G>A (p.Asp514Asn)
 gnomAD v4
20g.63406740G>ACA9958065KCNQ2c.2577C>T (p.Thr859=)
c.2523C>T (p.Thr841=)
c.1920C>T (p.Thr640=)
c.2430C>T (p.Thr810=)
c.2091C>T (p.Thr697=)
c.2439C>T (p.Thr813=)
c.2241+306C>T (n.2241+306C>T)
c.2205+306C>T (n.2205+306C>T)
c.2469C>T (p.Thr823=)
c.2133+306C>T (n.2133+306C>T)
c.1680-5897C>T (n.1680-5897C>T)
c.2565C>T (p.Thr855=)
c.2631C>T (p.Thr877=)
c.2628C>T (p.Thr876=)
c.2601C>T (p.Thr867=)
c.2547C>T (p.Thr849=)
c.2520C>T (p.Thr840=)
c.2505C>T (p.Thr835=)
c.2112C>T (p.Thr704=)
c.2574C>T (p.Thr858=)
c.2511C>T (p.Thr837=)
c.2508C>T (p.Thr836=)
c.2466C>T (p.Thr822=)
c.1539C>T (p.Thr513=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406740G>CCA511339225KCNQ2c.2577C>G (p.Thr859=)
c.2523C>G (p.Thr841=)
c.1920C>G (p.Thr640=)
c.2430C>G (p.Thr810=)
c.2091C>G (p.Thr697=)
c.2439C>G (p.Thr813=)
c.2241+306C>G (n.2241+306C>G)
c.2205+306C>G (n.2205+306C>G)
c.2469C>G (p.Thr823=)
c.2133+306C>G (n.2133+306C>G)
c.1680-5897C>G (n.1680-5897C>G)
c.2565C>G (p.Thr855=)
c.2631C>G (p.Thr877=)
c.2628C>G (p.Thr876=)
c.2601C>G (p.Thr867=)
c.2547C>G (p.Thr849=)
c.2520C>G (p.Thr840=)
c.2505C>G (p.Thr835=)
c.2112C>G (p.Thr704=)
c.2574C>G (p.Thr858=)
c.2511C>G (p.Thr837=)
c.2508C>G (p.Thr836=)
c.2466C>G (p.Thr822=)
c.1539C>G (p.Thr513=)
 dbSNP
20g.63406740G=CA2374774227KCNQ2c.2577C= (p.Thr859=)
c.2523C= (p.Thr841=)
c.1920C= (p.Thr640=)
c.2430C= (p.Thr810=)
c.2091C= (p.Thr697=)
c.2439C= (p.Thr813=)
c.2241+306C= (n.2241+306C=)
c.2205+306C= (n.2205+306C=)
c.2469C= (p.Thr823=)
c.2133+306C= (n.2133+306C=)
c.1680-5897C= (n.1680-5897C=)
c.2565C= (p.Thr855=)
c.2631C= (p.Thr877=)
c.2628C= (p.Thr876=)
c.2601C= (p.Thr867=)
c.2547C= (p.Thr849=)
c.2520C= (p.Thr840=)
c.2505C= (p.Thr835=)
c.2112C= (p.Thr704=)
c.2574C= (p.Thr858=)
c.2511C= (p.Thr837=)
c.2508C= (p.Thr836=)
c.2466C= (p.Thr822=)
c.1539C= (p.Thr513=)
20g.63406740G>TCA511339226KCNQ2c.2577C>A (p.Thr859=)
c.2523C>A (p.Thr841=)
c.1920C>A (p.Thr640=)
c.2430C>A (p.Thr810=)
c.2091C>A (p.Thr697=)
c.2439C>A (p.Thr813=)
c.2241+306C>A (n.2241+306C>A)
c.2205+306C>A (n.2205+306C>A)
c.2469C>A (p.Thr823=)
c.2133+306C>A (n.2133+306C>A)
c.1680-5897C>A (n.1680-5897C>A)
c.2565C>A (p.Thr855=)
c.2631C>A (p.Thr877=)
c.2628C>A (p.Thr876=)
c.2601C>A (p.Thr867=)
c.2547C>A (p.Thr849=)
c.2520C>A (p.Thr840=)
c.2505C>A (p.Thr835=)
c.2112C>A (p.Thr704=)
c.2574C>A (p.Thr858=)
c.2511C>A (p.Thr837=)
c.2508C>A (p.Thr836=)
c.2466C>A (p.Thr822=)
c.1539C>A (p.Thr513=)
20g.63406741G>ACA409636709KCNQ2c.2576C>T (p.Thr859Ile)
c.2522C>T (p.Thr841Ile)
c.1919C>T (p.Thr640Ile)
c.2429C>T (p.Thr810Ile)
c.2090C>T (p.Thr697Ile)
c.2438C>T (p.Thr813Ile)
c.2241+305C>T (n.2241+305C>T)
c.2205+305C>T (n.2205+305C>T)
c.2468C>T (p.Thr823Ile)
c.2133+305C>T (n.2133+305C>T)
c.1680-5898C>T (n.1680-5898C>T)
c.2564C>T (p.Thr855Ile)
c.2630C>T (p.Thr877Ile)
c.2627C>T (p.Thr876Ile)
c.2600C>T (p.Thr867Ile)
c.2546C>T (p.Thr849Ile)
c.2519C>T (p.Thr840Ile)
c.2504C>T (p.Thr835Ile)
c.2111C>T (p.Thr704Ile)
c.2573C>T (p.Thr858Ile)
c.2510C>T (p.Thr837Ile)
c.2507C>T (p.Thr836Ile)
c.2465C>T (p.Thr822Ile)
c.1538C>T (p.Thr513Ile)
20g.63406741G>CCA409636710KCNQ2c.2576C>G (p.Thr859Ser)
c.2522C>G (p.Thr841Ser)
c.1919C>G (p.Thr640Ser)
c.2429C>G (p.Thr810Ser)
c.2090C>G (p.Thr697Ser)
c.2438C>G (p.Thr813Ser)
c.2241+305C>G (n.2241+305C>G)
c.2205+305C>G (n.2205+305C>G)
c.2468C>G (p.Thr823Ser)
c.2133+305C>G (n.2133+305C>G)
c.1680-5898C>G (n.1680-5898C>G)
c.2564C>G (p.Thr855Ser)
c.2630C>G (p.Thr877Ser)
c.2627C>G (p.Thr876Ser)
c.2600C>G (p.Thr867Ser)
c.2546C>G (p.Thr849Ser)
c.2519C>G (p.Thr840Ser)
c.2504C>G (p.Thr835Ser)
c.2111C>G (p.Thr704Ser)
c.2573C>G (p.Thr858Ser)
c.2510C>G (p.Thr837Ser)
c.2507C>G (p.Thr836Ser)
c.2465C>G (p.Thr822Ser)
c.1538C>G (p.Thr513Ser)
20g.63406741G>TCA409636711KCNQ2c.2576C>A (p.Thr859Asn)
c.2522C>A (p.Thr841Asn)
c.1919C>A (p.Thr640Asn)
c.2429C>A (p.Thr810Asn)
c.2090C>A (p.Thr697Asn)
c.2438C>A (p.Thr813Asn)
c.2241+305C>A (n.2241+305C>A)
c.2205+305C>A (n.2205+305C>A)
c.2468C>A (p.Thr823Asn)
c.2133+305C>A (n.2133+305C>A)
c.1680-5898C>A (n.1680-5898C>A)
c.2564C>A (p.Thr855Asn)
c.2630C>A (p.Thr877Asn)
c.2627C>A (p.Thr876Asn)
c.2600C>A (p.Thr867Asn)
c.2546C>A (p.Thr849Asn)
c.2519C>A (p.Thr840Asn)
c.2504C>A (p.Thr835Asn)
c.2111C>A (p.Thr704Asn)
c.2573C>A (p.Thr858Asn)
c.2510C>A (p.Thr837Asn)
c.2507C>A (p.Thr836Asn)
c.2465C>A (p.Thr822Asn)
c.1538C>A (p.Thr513Asn)
 gnomAD v4
20g.63406742T>ACA409636714KCNQ2c.2575A>T (p.Thr859Ser)
c.2521A>T (p.Thr841Ser)
c.1918A>T (p.Thr640Ser)
c.2428A>T (p.Thr810Ser)
c.2089A>T (p.Thr697Ser)
c.2437A>T (p.Thr813Ser)
c.2241+304A>T (n.2241+304A>T)
c.2205+304A>T (n.2205+304A>T)
c.2467A>T (p.Thr823Ser)
c.2133+304A>T (n.2133+304A>T)
c.1680-5899A>T (n.1680-5899A>T)
c.2563A>T (p.Thr855Ser)
c.2629A>T (p.Thr877Ser)
c.2626A>T (p.Thr876Ser)
c.2599A>T (p.Thr867Ser)
c.2545A>T (p.Thr849Ser)
c.2518A>T (p.Thr840Ser)
c.2503A>T (p.Thr835Ser)
c.2110A>T (p.Thr704Ser)
c.2572A>T (p.Thr858Ser)
c.2509A>T (p.Thr837Ser)
c.2506A>T (p.Thr836Ser)
c.2464A>T (p.Thr822Ser)
c.1537A>T (p.Thr513Ser)
20g.63406742T>CCA409636716KCNQ2c.2575A>G (p.Thr859Ala)
c.2521A>G (p.Thr841Ala)
c.1918A>G (p.Thr640Ala)
c.2428A>G (p.Thr810Ala)
c.2089A>G (p.Thr697Ala)
c.2437A>G (p.Thr813Ala)
c.2241+304A>G (n.2241+304A>G)
c.2205+304A>G (n.2205+304A>G)
c.2467A>G (p.Thr823Ala)
c.2133+304A>G (n.2133+304A>G)
c.1680-5899A>G (n.1680-5899A>G)
c.2563A>G (p.Thr855Ala)
c.2629A>G (p.Thr877Ala)
c.2626A>G (p.Thr876Ala)
c.2599A>G (p.Thr867Ala)
c.2545A>G (p.Thr849Ala)
c.2518A>G (p.Thr840Ala)
c.2503A>G (p.Thr835Ala)
c.2110A>G (p.Thr704Ala)
c.2572A>G (p.Thr858Ala)
c.2509A>G (p.Thr837Ala)
c.2506A>G (p.Thr836Ala)
c.2464A>G (p.Thr822Ala)
c.1537A>G (p.Thr513Ala)
20g.63406742T>GCA409636718KCNQ2c.2575A>C (p.Thr859Pro)
c.2521A>C (p.Thr841Pro)
c.1918A>C (p.Thr640Pro)
c.2428A>C (p.Thr810Pro)
c.2089A>C (p.Thr697Pro)
c.2437A>C (p.Thr813Pro)
c.2241+304A>C (n.2241+304A>C)
c.2205+304A>C (n.2205+304A>C)
c.2467A>C (p.Thr823Pro)
c.2133+304A>C (n.2133+304A>C)
c.1680-5899A>C (n.1680-5899A>C)
c.2563A>C (p.Thr855Pro)
c.2629A>C (p.Thr877Pro)
c.2626A>C (p.Thr876Pro)
c.2599A>C (p.Thr867Pro)
c.2545A>C (p.Thr849Pro)
c.2518A>C (p.Thr840Pro)
c.2503A>C (p.Thr835Pro)
c.2110A>C (p.Thr704Pro)
c.2572A>C (p.Thr858Pro)
c.2509A>C (p.Thr837Pro)
c.2506A>C (p.Thr836Pro)
c.2464A>C (p.Thr822Pro)
c.1537A>C (p.Thr513Pro)
20g.63406743G>ACA511339227KCNQ2c.2574C>T (p.Asp858=)
c.2520C>T (p.Asp840=)
c.1917C>T (p.Asp639=)
c.2427C>T (p.Asp809=)
c.2088C>T (p.Asp696=)
c.2436C>T (p.Asp812=)
c.2241+303C>T (n.2241+303C>T)
c.2205+303C>T (n.2205+303C>T)
c.2466C>T (p.Asp822=)
c.2133+303C>T (n.2133+303C>T)
c.1680-5900C>T (n.1680-5900C>T)
c.2562C>T (p.Asp854=)
c.2628C>T (p.Asp876=)
c.2625C>T (p.Asp875=)
c.2598C>T (p.Asp866=)
c.2544C>T (p.Asp848=)
c.2517C>T (p.Asp839=)
c.2502C>T (p.Asp834=)
c.2109C>T (p.Asp703=)
c.2571C>T (p.Asp857=)
c.2508C>T (p.Asp836=)
c.2505C>T (p.Asp835=)
c.2463C>T (p.Asp821=)
c.1536C>T (p.Asp512=)
 dbSNP
20g.63406743G>CCA409636720KCNQ2c.2574C>G (p.Asp858Glu)
c.2520C>G (p.Asp840Glu)
c.1917C>G (p.Asp639Glu)
c.2427C>G (p.Asp809Glu)
c.2088C>G (p.Asp696Glu)
c.2436C>G (p.Asp812Glu)
c.2241+303C>G (n.2241+303C>G)
c.2205+303C>G (n.2205+303C>G)
c.2466C>G (p.Asp822Glu)
c.2133+303C>G (n.2133+303C>G)
c.1680-5900C>G (n.1680-5900C>G)
c.2562C>G (p.Asp854Glu)
c.2628C>G (p.Asp876Glu)
c.2625C>G (p.Asp875Glu)
c.2598C>G (p.Asp866Glu)
c.2544C>G (p.Asp848Glu)
c.2517C>G (p.Asp839Glu)
c.2502C>G (p.Asp834Glu)
c.2109C>G (p.Asp703Glu)
c.2571C>G (p.Asp857Glu)
c.2508C>G (p.Asp836Glu)
c.2505C>G (p.Asp835Glu)
c.2463C>G (p.Asp821Glu)
c.1536C>G (p.Asp512Glu)
20g.63406743G=CA2374774228KCNQ2c.2574C= (p.Asp858=)
c.2520C= (p.Asp840=)
c.1917C= (p.Asp639=)
c.2427C= (p.Asp809=)
c.2088C= (p.Asp696=)
c.2436C= (p.Asp812=)
c.2241+303C= (n.2241+303C=)
c.2205+303C= (n.2205+303C=)
c.2466C= (p.Asp822=)
c.2133+303C= (n.2133+303C=)
c.1680-5900C= (n.1680-5900C=)
c.2562C= (p.Asp854=)
c.2628C= (p.Asp876=)
c.2625C= (p.Asp875=)
c.2598C= (p.Asp866=)
c.2544C= (p.Asp848=)
c.2517C= (p.Asp839=)
c.2502C= (p.Asp834=)
c.2109C= (p.Asp703=)
c.2571C= (p.Asp857=)
c.2508C= (p.Asp836=)
c.2505C= (p.Asp835=)
c.2463C= (p.Asp821=)
c.1536C= (p.Asp512=)
20g.63406743G>TCA409636722KCNQ2c.2574C>A (p.Asp858Glu)
c.2520C>A (p.Asp840Glu)
c.1917C>A (p.Asp639Glu)
c.2427C>A (p.Asp809Glu)
c.2088C>A (p.Asp696Glu)
c.2436C>A (p.Asp812Glu)
c.2241+303C>A (n.2241+303C>A)
c.2205+303C>A (n.2205+303C>A)
c.2466C>A (p.Asp822Glu)
c.2133+303C>A (n.2133+303C>A)
c.1680-5900C>A (n.1680-5900C>A)
c.2562C>A (p.Asp854Glu)
c.2628C>A (p.Asp876Glu)
c.2625C>A (p.Asp875Glu)
c.2598C>A (p.Asp866Glu)
c.2544C>A (p.Asp848Glu)
c.2517C>A (p.Asp839Glu)
c.2502C>A (p.Asp834Glu)
c.2109C>A (p.Asp703Glu)
c.2571C>A (p.Asp857Glu)
c.2508C>A (p.Asp836Glu)
c.2505C>A (p.Asp835Glu)
c.2463C>A (p.Asp821Glu)
c.1536C>A (p.Asp512Glu)
20g.63406744T>ACA409636726KCNQ2c.2573A>T (p.Asp858Val)
c.2519A>T (p.Asp840Val)
c.1916A>T (p.Asp639Val)
c.2426A>T (p.Asp809Val)
c.2087A>T (p.Asp696Val)
c.2435A>T (p.Asp812Val)
c.2241+302A>T (n.2241+302A>T)
c.2205+302A>T (n.2205+302A>T)
c.2465A>T (p.Asp822Val)
c.2133+302A>T (n.2133+302A>T)
c.1680-5901A>T (n.1680-5901A>T)
c.2561A>T (p.Asp854Val)
c.2627A>T (p.Asp876Val)
c.2624A>T (p.Asp875Val)
c.2597A>T (p.Asp866Val)
c.2543A>T (p.Asp848Val)
c.2516A>T (p.Asp839Val)
c.2501A>T (p.Asp834Val)
c.2108A>T (p.Asp703Val)
c.2570A>T (p.Asp857Val)
c.2507A>T (p.Asp836Val)
c.2504A>T (p.Asp835Val)
c.2462A>T (p.Asp821Val)
c.1535A>T (p.Asp512Val)
20g.63406744T>CCA409636728KCNQ2c.2573A>G (p.Asp858Gly)
c.2519A>G (p.Asp840Gly)
c.1916A>G (p.Asp639Gly)
c.2426A>G (p.Asp809Gly)
c.2087A>G (p.Asp696Gly)
c.2435A>G (p.Asp812Gly)
c.2241+302A>G (n.2241+302A>G)
c.2205+302A>G (n.2205+302A>G)
c.2465A>G (p.Asp822Gly)
c.2133+302A>G (n.2133+302A>G)
c.1680-5901A>G (n.1680-5901A>G)
c.2561A>G (p.Asp854Gly)
c.2627A>G (p.Asp876Gly)
c.2624A>G (p.Asp875Gly)
c.2597A>G (p.Asp866Gly)
c.2543A>G (p.Asp848Gly)
c.2516A>G (p.Asp839Gly)
c.2501A>G (p.Asp834Gly)
c.2108A>G (p.Asp703Gly)
c.2570A>G (p.Asp857Gly)
c.2507A>G (p.Asp836Gly)
c.2504A>G (p.Asp835Gly)
c.2462A>G (p.Asp821Gly)
c.1535A>G (p.Asp512Gly)
20g.63406744T>GCA409636724KCNQ2c.2573A>C (p.Asp858Ala)
c.2519A>C (p.Asp840Ala)
c.1916A>C (p.Asp639Ala)
c.2426A>C (p.Asp809Ala)
c.2087A>C (p.Asp696Ala)
c.2435A>C (p.Asp812Ala)
c.2241+302A>C (n.2241+302A>C)
c.2205+302A>C (n.2205+302A>C)
c.2465A>C (p.Asp822Ala)
c.2133+302A>C (n.2133+302A>C)
c.1680-5901A>C (n.1680-5901A>C)
c.2561A>C (p.Asp854Ala)
c.2627A>C (p.Asp876Ala)
c.2624A>C (p.Asp875Ala)
c.2597A>C (p.Asp866Ala)
c.2543A>C (p.Asp848Ala)
c.2516A>C (p.Asp839Ala)
c.2501A>C (p.Asp834Ala)
c.2108A>C (p.Asp703Ala)
c.2570A>C (p.Asp857Ala)
c.2507A>C (p.Asp836Ala)
c.2504A>C (p.Asp835Ala)
c.2462A>C (p.Asp821Ala)
c.1535A>C (p.Asp512Ala)
20g.63406745C>ACA409636730KCNQ2c.2572G>T (p.Asp858Tyr)
c.2518G>T (p.Asp840Tyr)
c.1915G>T (p.Asp639Tyr)
c.2425G>T (p.Asp809Tyr)
c.2086G>T (p.Asp696Tyr)
c.2434G>T (p.Asp812Tyr)
c.2241+301G>T (n.2241+301G>T)
c.2205+301G>T (n.2205+301G>T)
c.2464G>T (p.Asp822Tyr)
c.2133+301G>T (n.2133+301G>T)
c.1680-5902G>T (n.1680-5902G>T)
c.2560G>T (p.Asp854Tyr)
c.2626G>T (p.Asp876Tyr)
c.2623G>T (p.Asp875Tyr)
c.2596G>T (p.Asp866Tyr)
c.2542G>T (p.Asp848Tyr)
c.2515G>T (p.Asp839Tyr)
c.2500G>T (p.Asp834Tyr)
c.2107G>T (p.Asp703Tyr)
c.2569G>T (p.Asp857Tyr)
c.2506G>T (p.Asp836Tyr)
c.2503G>T (p.Asp835Tyr)
c.2461G>T (p.Asp821Tyr)
c.1534G>T (p.Asp512Tyr)
20g.63406745C>GCA409636732KCNQ2c.2572G>C (p.Asp858His)
c.2518G>C (p.Asp840His)
c.1915G>C (p.Asp639His)
c.2425G>C (p.Asp809His)
c.2086G>C (p.Asp696His)
c.2434G>C (p.Asp812His)
c.2241+301G>C (n.2241+301G>C)
c.2205+301G>C (n.2205+301G>C)
c.2464G>C (p.Asp822His)
c.2133+301G>C (n.2133+301G>C)
c.1680-5902G>C (n.1680-5902G>C)
c.2560G>C (p.Asp854His)
c.2626G>C (p.Asp876His)
c.2623G>C (p.Asp875His)
c.2596G>C (p.Asp866His)
c.2542G>C (p.Asp848His)
c.2515G>C (p.Asp839His)
c.2500G>C (p.Asp834His)
c.2107G>C (p.Asp703His)
c.2569G>C (p.Asp857His)
c.2506G>C (p.Asp836His)
c.2503G>C (p.Asp835His)
c.2461G>C (p.Asp821His)
c.1534G>C (p.Asp512His)
20g.63406745C>TCA409636733KCNQ2c.2572G>A (p.Asp858Asn)
c.2518G>A (p.Asp840Asn)
c.1915G>A (p.Asp639Asn)
c.2425G>A (p.Asp809Asn)
c.2086G>A (p.Asp696Asn)
c.2434G>A (p.Asp812Asn)
c.2241+301G>A (n.2241+301G>A)
c.2205+301G>A (n.2205+301G>A)
c.2464G>A (p.Asp822Asn)
c.2133+301G>A (n.2133+301G>A)
c.1680-5902G>A (n.1680-5902G>A)
c.2560G>A (p.Asp854Asn)
c.2626G>A (p.Asp876Asn)
c.2623G>A (p.Asp875Asn)
c.2596G>A (p.Asp866Asn)
c.2542G>A (p.Asp848Asn)
c.2515G>A (p.Asp839Asn)
c.2500G>A (p.Asp834Asn)
c.2107G>A (p.Asp703Asn)
c.2569G>A (p.Asp857Asn)
c.2506G>A (p.Asp836Asn)
c.2503G>A (p.Asp835Asn)
c.2461G>A (p.Asp821Asn)
c.1534G>A (p.Asp512Asn)
20g.63406746T>ACA511339228KCNQ2c.2571A>T (p.Ser857=)
c.2517A>T (p.Ser839=)
c.1914A>T (p.Ser638=)
c.2424A>T (p.Ser808=)
c.2085A>T (p.Ser695=)
c.2433A>T (p.Ser811=)
c.2241+300A>T (n.2241+300A>T)
c.2205+300A>T (n.2205+300A>T)
c.2463A>T (p.Ser821=)
c.2133+300A>T (n.2133+300A>T)
c.1680-5903A>T (n.1680-5903A>T)
c.2559A>T (p.Ser853=)
c.2625A>T (p.Ser875=)
c.2622A>T (p.Ser874=)
c.2595A>T (p.Ser865=)
c.2541A>T (p.Ser847=)
c.2514A>T (p.Ser838=)
c.2499A>T (p.Ser833=)
c.2106A>T (p.Ser702=)
c.2568A>T (p.Ser856=)
c.2505A>T (p.Ser835=)
c.2502A>T (p.Ser834=)
c.2460A>T (p.Ser820=)
c.1533A>T (p.Ser511=)
20g.63406746T>CCA511339229KCNQ2c.2571A>G (p.Ser857=)
c.2517A>G (p.Ser839=)
c.1914A>G (p.Ser638=)
c.2424A>G (p.Ser808=)
c.2085A>G (p.Ser695=)
c.2433A>G (p.Ser811=)
c.2241+300A>G (n.2241+300A>G)
c.2205+300A>G (n.2205+300A>G)
c.2463A>G (p.Ser821=)
c.2133+300A>G (n.2133+300A>G)
c.1680-5903A>G (n.1680-5903A>G)
c.2559A>G (p.Ser853=)
c.2625A>G (p.Ser875=)
c.2622A>G (p.Ser874=)
c.2595A>G (p.Ser865=)
c.2541A>G (p.Ser847=)
c.2514A>G (p.Ser838=)
c.2499A>G (p.Ser833=)
c.2106A>G (p.Ser702=)
c.2568A>G (p.Ser856=)
c.2505A>G (p.Ser835=)
c.2502A>G (p.Ser834=)
c.2460A>G (p.Ser820=)
c.1533A>G (p.Ser511=)
20g.63406746T>GCA511339230KCNQ2c.2571A>C (p.Ser857=)
c.2517A>C (p.Ser839=)
c.1914A>C (p.Ser638=)
c.2424A>C (p.Ser808=)
c.2085A>C (p.Ser695=)
c.2433A>C (p.Ser811=)
c.2241+300A>C (n.2241+300A>C)
c.2205+300A>C (n.2205+300A>C)
c.2463A>C (p.Ser821=)
c.2133+300A>C (n.2133+300A>C)
c.1680-5903A>C (n.1680-5903A>C)
c.2559A>C (p.Ser853=)
c.2625A>C (p.Ser875=)
c.2622A>C (p.Ser874=)
c.2595A>C (p.Ser865=)
c.2541A>C (p.Ser847=)
c.2514A>C (p.Ser838=)
c.2499A>C (p.Ser833=)
c.2106A>C (p.Ser702=)
c.2568A>C (p.Ser856=)
c.2505A>C (p.Ser835=)
c.2502A>C (p.Ser834=)
c.2460A>C (p.Ser820=)
c.1533A>C (p.Ser511=)
20g.63406747G>ACA409636735KCNQ2c.2570C>T (p.Ser857Leu)
c.2516C>T (p.Ser839Leu)
c.1913C>T (p.Ser638Leu)
c.2423C>T (p.Ser808Leu)
c.2084C>T (p.Ser695Leu)
c.2432C>T (p.Ser811Leu)
c.2241+299C>T (n.2241+299C>T)
c.2205+299C>T (n.2205+299C>T)
c.2462C>T (p.Ser821Leu)
c.2133+299C>T (n.2133+299C>T)
c.1680-5904C>T (n.1680-5904C>T)
c.2558C>T (p.Ser853Leu)
c.2624C>T (p.Ser875Leu)
c.2621C>T (p.Ser874Leu)
c.2594C>T (p.Ser865Leu)
c.2540C>T (p.Ser847Leu)
c.2513C>T (p.Ser838Leu)
c.2498C>T (p.Ser833Leu)
c.2105C>T (p.Ser702Leu)
c.2567C>T (p.Ser856Leu)
c.2504C>T (p.Ser835Leu)
c.2501C>T (p.Ser834Leu)
c.2459C>T (p.Ser820Leu)
c.1532C>T (p.Ser511Leu)
 COSMIC COSMIC COSMIC
20g.63406747G>CCA409636737KCNQ2c.2570C>G (p.Ser857Ter)
c.2516C>G (p.Ser839Ter)
c.1913C>G (p.Ser638Ter)
c.2423C>G (p.Ser808Ter)
c.2084C>G (p.Ser695Ter)
c.2432C>G (p.Ser811Ter)
c.2241+299C>G (n.2241+299C>G)
c.2205+299C>G (n.2205+299C>G)
c.2462C>G (p.Ser821Ter)
c.2133+299C>G (n.2133+299C>G)
c.1680-5904C>G (n.1680-5904C>G)
c.2558C>G (p.Ser853Ter)
c.2624C>G (p.Ser875Ter)
c.2621C>G (p.Ser874Ter)
c.2594C>G (p.Ser865Ter)
c.2540C>G (p.Ser847Ter)
c.2513C>G (p.Ser838Ter)
c.2498C>G (p.Ser833Ter)
c.2105C>G (p.Ser702Ter)
c.2567C>G (p.Ser856Ter)
c.2504C>G (p.Ser835Ter)
c.2501C>G (p.Ser834Ter)
c.2459C>G (p.Ser820Ter)
c.1532C>G (p.Ser511Ter)
20g.63406747G=CA2374774229KCNQ2c.2570C= (p.Ser857=)
c.2516C= (p.Ser839=)
c.1913C= (p.Ser638=)
c.2423C= (p.Ser808=)
c.2084C= (p.Ser695=)
c.2432C= (p.Ser811=)
c.2241+299C= (n.2241+299C=)
c.2205+299C= (n.2205+299C=)
c.2462C= (p.Ser821=)
c.2133+299C= (n.2133+299C=)
c.1680-5904C= (n.1680-5904C=)
c.2558C= (p.Ser853=)
c.2624C= (p.Ser875=)
c.2621C= (p.Ser874=)
c.2594C= (p.Ser865=)
c.2540C= (p.Ser847=)
c.2513C= (p.Ser838=)
c.2498C= (p.Ser833=)
c.2105C= (p.Ser702=)
c.2567C= (p.Ser856=)
c.2504C= (p.Ser835=)
c.2501C= (p.Ser834=)
c.2459C= (p.Ser820=)
c.1532C= (p.Ser511=)
20g.63406747G>TCA409636739KCNQ2c.2570C>A (p.Ser857Ter)
c.2516C>A (p.Ser839Ter)
c.1913C>A (p.Ser638Ter)
c.2423C>A (p.Ser808Ter)
c.2084C>A (p.Ser695Ter)
c.2432C>A (p.Ser811Ter)
c.2241+299C>A (n.2241+299C>A)
c.2205+299C>A (n.2205+299C>A)
c.2462C>A (p.Ser821Ter)
c.2133+299C>A (n.2133+299C>A)
c.1680-5904C>A (n.1680-5904C>A)
c.2558C>A (p.Ser853Ter)
c.2624C>A (p.Ser875Ter)
c.2621C>A (p.Ser874Ter)
c.2594C>A (p.Ser865Ter)
c.2540C>A (p.Ser847Ter)
c.2513C>A (p.Ser838Ter)
c.2498C>A (p.Ser833Ter)
c.2105C>A (p.Ser702Ter)
c.2567C>A (p.Ser856Ter)
c.2504C>A (p.Ser835Ter)
c.2501C>A (p.Ser834Ter)
c.2459C>A (p.Ser820Ter)
c.1532C>A (p.Ser511Ter)
 ClinVar dbSNP
20g.63406748A>CCA409636740KCNQ2c.2569T>G (p.Ser857Ala)
c.2515T>G (p.Ser839Ala)
c.1912T>G (p.Ser638Ala)
c.2422T>G (p.Ser808Ala)
c.2083T>G (p.Ser695Ala)
c.2431T>G (p.Ser811Ala)
c.2241+298T>G (n.2241+298T>G)
c.2205+298T>G (n.2205+298T>G)
c.2461T>G (p.Ser821Ala)
c.2133+298T>G (n.2133+298T>G)
c.1680-5905T>G (n.1680-5905T>G)
c.2557T>G (p.Ser853Ala)
c.2623T>G (p.Ser875Ala)
c.2620T>G (p.Ser874Ala)
c.2593T>G (p.Ser865Ala)
c.2539T>G (p.Ser847Ala)
c.2512T>G (p.Ser838Ala)
c.2497T>G (p.Ser833Ala)
c.2104T>G (p.Ser702Ala)
c.2566T>G (p.Ser856Ala)
c.2503T>G (p.Ser835Ala)
c.2500T>G (p.Ser834Ala)
c.2458T>G (p.Ser820Ala)
c.1531T>G (p.Ser511Ala)
20g.63406748A>GCA409636744KCNQ2c.2569T>C (p.Ser857Pro)
c.2515T>C (p.Ser839Pro)
c.1912T>C (p.Ser638Pro)
c.2422T>C (p.Ser808Pro)
c.2083T>C (p.Ser695Pro)
c.2431T>C (p.Ser811Pro)
c.2241+298T>C (n.2241+298T>C)
c.2205+298T>C (n.2205+298T>C)
c.2461T>C (p.Ser821Pro)
c.2133+298T>C (n.2133+298T>C)
c.1680-5905T>C (n.1680-5905T>C)
c.2557T>C (p.Ser853Pro)
c.2623T>C (p.Ser875Pro)
c.2620T>C (p.Ser874Pro)
c.2593T>C (p.Ser865Pro)
c.2539T>C (p.Ser847Pro)
c.2512T>C (p.Ser838Pro)
c.2497T>C (p.Ser833Pro)
c.2104T>C (p.Ser702Pro)
c.2566T>C (p.Ser856Pro)
c.2503T>C (p.Ser835Pro)
c.2500T>C (p.Ser834Pro)
c.2458T>C (p.Ser820Pro)
c.1531T>C (p.Ser511Pro)
 COSMIC COSMIC COSMIC
20g.63406748A>TCA409636742KCNQ2c.2569T>A (p.Ser857Thr)
c.2515T>A (p.Ser839Thr)
c.1912T>A (p.Ser638Thr)
c.2422T>A (p.Ser808Thr)
c.2083T>A (p.Ser695Thr)
c.2431T>A (p.Ser811Thr)
c.2241+298T>A (n.2241+298T>A)
c.2205+298T>A (n.2205+298T>A)
c.2461T>A (p.Ser821Thr)
c.2133+298T>A (n.2133+298T>A)
c.1680-5905T>A (n.1680-5905T>A)
c.2557T>A (p.Ser853Thr)
c.2623T>A (p.Ser875Thr)
c.2620T>A (p.Ser874Thr)
c.2593T>A (p.Ser865Thr)
c.2539T>A (p.Ser847Thr)
c.2512T>A (p.Ser838Thr)
c.2497T>A (p.Ser833Thr)
c.2104T>A (p.Ser702Thr)
c.2566T>A (p.Ser856Thr)
c.2503T>A (p.Ser835Thr)
c.2500T>A (p.Ser834Thr)
c.2458T>A (p.Ser820Thr)
c.1531T>A (p.Ser511Thr)
 gnomAD v4
20g.63406749C>ACA409636745KCNQ2c.2568G>T (p.Glu856Asp)
c.2514G>T (p.Glu838Asp)
c.1911G>T (p.Glu637Asp)
c.2421G>T (p.Glu807Asp)
c.2082G>T (p.Glu694Asp)
c.2430G>T (p.Glu810Asp)
c.2241+297G>T (n.2241+297G>T)
c.2205+297G>T (n.2205+297G>T)
c.2460G>T (p.Glu820Asp)
c.2133+297G>T (n.2133+297G>T)
c.1680-5906G>T (n.1680-5906G>T)
c.2556G>T (p.Glu852Asp)
c.2622G>T (p.Glu874Asp)
c.2619G>T (p.Glu873Asp)
c.2592G>T (p.Glu864Asp)
c.2538G>T (p.Glu846Asp)
c.2511G>T (p.Glu837Asp)
c.2496G>T (p.Glu832Asp)
c.2103G>T (p.Glu701Asp)
c.2565G>T (p.Glu855Asp)
c.2502G>T (p.Glu834Asp)
c.2499G>T (p.Glu833Asp)
c.2457G>T (p.Glu819Asp)
c.1530G>T (p.Glu510Asp)
20g.63406749C>GCA409636747KCNQ2c.2568G>C (p.Glu856Asp)
c.2514G>C (p.Glu838Asp)
c.1911G>C (p.Glu637Asp)
c.2421G>C (p.Glu807Asp)
c.2082G>C (p.Glu694Asp)
c.2430G>C (p.Glu810Asp)
c.2241+297G>C (n.2241+297G>C)
c.2205+297G>C (n.2205+297G>C)
c.2460G>C (p.Glu820Asp)
c.2133+297G>C (n.2133+297G>C)
c.1680-5906G>C (n.1680-5906G>C)
c.2556G>C (p.Glu852Asp)
c.2622G>C (p.Glu874Asp)
c.2619G>C (p.Glu873Asp)
c.2592G>C (p.Glu864Asp)
c.2538G>C (p.Glu846Asp)
c.2511G>C (p.Glu837Asp)
c.2496G>C (p.Glu832Asp)
c.2103G>C (p.Glu701Asp)
c.2565G>C (p.Glu855Asp)
c.2502G>C (p.Glu834Asp)
c.2499G>C (p.Glu833Asp)
c.2457G>C (p.Glu819Asp)
c.1530G>C (p.Glu510Asp)
20g.63406749C>TCA511339231KCNQ2c.2568G>A (p.Glu856=)
c.2514G>A (p.Glu838=)
c.1911G>A (p.Glu637=)
c.2421G>A (p.Glu807=)
c.2082G>A (p.Glu694=)
c.2430G>A (p.Glu810=)
c.2241+297G>A (n.2241+297G>A)
c.2205+297G>A (n.2205+297G>A)
c.2460G>A (p.Glu820=)
c.2133+297G>A (n.2133+297G>A)
c.1680-5906G>A (n.1680-5906G>A)
c.2556G>A (p.Glu852=)
c.2622G>A (p.Glu874=)
c.2619G>A (p.Glu873=)
c.2592G>A (p.Glu864=)
c.2538G>A (p.Glu846=)
c.2511G>A (p.Glu837=)
c.2496G>A (p.Glu832=)
c.2103G>A (p.Glu701=)
c.2565G>A (p.Glu855=)
c.2502G>A (p.Glu834=)
c.2499G>A (p.Glu833=)
c.2457G>A (p.Glu819=)
c.1530G>A (p.Glu510=)
20g.63406749dupCA2697547446KCNQ2c.2568dup (p.Ser857ValfsTer26)
c.2514dup (p.Ser839ValfsTer26)
c.1911dup (p.Ser638ValfsTer26)
c.2421dup (p.Ser808ValfsTer26)
c.2082dup (p.Ser695ValfsTer26)
c.2430dup (p.Ser811ValfsTer26)
c.2241+297dup (n.2241+297dup)
c.2205+297dup (n.2205+297dup)
c.2460dup (p.Ser821ValfsTer26)
c.2133+297dup (n.2133+297dup)
c.1680-5906dup (n.1680-5906dup)
c.2556dup (p.Ser853ValfsTer26)
c.2622dup (p.Ser875ValfsTer26)
c.2619dup (p.Ser874ValfsTer26)
c.2592dup (p.Ser865ValfsTer26)
c.2538dup (p.Ser847ValfsTer26)
c.2511dup (p.Ser838ValfsTer26)
c.2496dup (p.Ser833ValfsTer26)
c.2103dup (p.Ser702ValfsTer26)
c.2565dup (p.Ser856ValfsTer26)
c.2502dup (p.Ser835ValfsTer26)
c.2499dup (p.Ser834ValfsTer26)
c.2457dup (p.Ser820ValfsTer26)
c.1530dup (p.Ser511ValfsTer26)
 ClinVar
20g.63406752_63406753delCA2695230033KCNQ2c.2567_2568del (p.Glu856ValfsTer26)
c.2513_2514del (p.Glu838ValfsTer26)
c.1910_1911del (p.Glu637ValfsTer26)
c.2420_2421del (p.Glu807ValfsTer26)
c.2081_2082del (p.Glu694ValfsTer26)
c.2429_2430del (p.Glu810ValfsTer26)
c.2241+296_2241+297del (n.2241+296_2241+297del)
c.2205+296_2205+297del (n.2205+296_2205+297del)
c.2459_2460del (p.Glu820ValfsTer26)
c.2133+296_2133+297del (n.2133+296_2133+297del)
c.1680-5907_1680-5906del (n.1680-5907_1680-5906del)
c.2555_2556del (p.Glu852ValfsTer26)
c.2621_2622del (p.Glu874ValfsTer26)
c.2618_2619del (p.Glu873ValfsTer26)
c.2591_2592del (p.Glu864ValfsTer26)
c.2537_2538del (p.Glu846ValfsTer26)
c.2510_2511del (p.Glu837ValfsTer26)
c.2495_2496del (p.Glu832ValfsTer26)
c.2102_2103del (p.Glu701ValfsTer26)
c.2564_2565del (p.Glu855ValfsTer26)
c.2501_2502del (p.Glu834ValfsTer26)
c.2498_2499del (p.Glu833ValfsTer26)
c.2456_2457del (p.Glu819ValfsTer26)
c.1529_1530del (p.Glu510ValfsTer26)
20g.63406750T>ACA409636750KCNQ2c.2567A>T (p.Glu856Val)
c.2513A>T (p.Glu838Val)
c.1910A>T (p.Glu637Val)
c.2420A>T (p.Glu807Val)
c.2081A>T (p.Glu694Val)
c.2429A>T (p.Glu810Val)
c.2241+296A>T (n.2241+296A>T)
c.2205+296A>T (n.2205+296A>T)
c.2459A>T (p.Glu820Val)
c.2133+296A>T (n.2133+296A>T)
c.1680-5907A>T (n.1680-5907A>T)
c.2555A>T (p.Glu852Val)
c.2621A>T (p.Glu874Val)
c.2618A>T (p.Glu873Val)
c.2591A>T (p.Glu864Val)
c.2537A>T (p.Glu846Val)
c.2510A>T (p.Glu837Val)
c.2495A>T (p.Glu832Val)
c.2102A>T (p.Glu701Val)
c.2564A>T (p.Glu855Val)
c.2501A>T (p.Glu834Val)
c.2498A>T (p.Glu833Val)
c.2456A>T (p.Glu819Val)
c.1529A>T (p.Glu510Val)
20g.63406750T>CCA409636751KCNQ2c.2567A>G (p.Glu856Gly)
c.2513A>G (p.Glu838Gly)
c.1910A>G (p.Glu637Gly)
c.2420A>G (p.Glu807Gly)
c.2081A>G (p.Glu694Gly)
c.2429A>G (p.Glu810Gly)
c.2241+296A>G (n.2241+296A>G)
c.2205+296A>G (n.2205+296A>G)
c.2459A>G (p.Glu820Gly)
c.2133+296A>G (n.2133+296A>G)
c.1680-5907A>G (n.1680-5907A>G)
c.2555A>G (p.Glu852Gly)
c.2621A>G (p.Glu874Gly)
c.2618A>G (p.Glu873Gly)
c.2591A>G (p.Glu864Gly)
c.2537A>G (p.Glu846Gly)
c.2510A>G (p.Glu837Gly)
c.2495A>G (p.Glu832Gly)
c.2102A>G (p.Glu701Gly)
c.2564A>G (p.Glu855Gly)
c.2501A>G (p.Glu834Gly)
c.2498A>G (p.Glu833Gly)
c.2456A>G (p.Glu819Gly)
c.1529A>G (p.Glu510Gly)
 dbSNP gnomAD v3 gnomAD v4
20g.63406750T>GCA409636753KCNQ2c.2567A>C (p.Glu856Ala)
c.2513A>C (p.Glu838Ala)
c.1910A>C (p.Glu637Ala)
c.2420A>C (p.Glu807Ala)
c.2081A>C (p.Glu694Ala)
c.2429A>C (p.Glu810Ala)
c.2241+296A>C (n.2241+296A>C)
c.2205+296A>C (n.2205+296A>C)
c.2459A>C (p.Glu820Ala)
c.2133+296A>C (n.2133+296A>C)
c.1680-5907A>C (n.1680-5907A>C)
c.2555A>C (p.Glu852Ala)
c.2621A>C (p.Glu874Ala)
c.2618A>C (p.Glu873Ala)
c.2591A>C (p.Glu864Ala)
c.2537A>C (p.Glu846Ala)
c.2510A>C (p.Glu837Ala)
c.2495A>C (p.Glu832Ala)
c.2102A>C (p.Glu701Ala)
c.2564A>C (p.Glu855Ala)
c.2501A>C (p.Glu834Ala)
c.2498A>C (p.Glu833Ala)
c.2456A>C (p.Glu819Ala)
c.1529A>C (p.Glu510Ala)
20g.63406750T=CA2374774230KCNQ2c.2567A= (p.Glu856=)
c.2513A= (p.Glu838=)
c.1910A= (p.Glu637=)
c.2420A= (p.Glu807=)
c.2081A= (p.Glu694=)
c.2429A= (p.Glu810=)
c.2241+296A= (n.2241+296A=)
c.2205+296A= (n.2205+296A=)
c.2459A= (p.Glu820=)
c.2133+296A= (n.2133+296A=)
c.1680-5907A= (n.1680-5907A=)
c.2555A= (p.Glu852=)
c.2621A= (p.Glu874=)
c.2618A= (p.Glu873=)
c.2591A= (p.Glu864=)
c.2537A= (p.Glu846=)
c.2510A= (p.Glu837=)
c.2495A= (p.Glu832=)
c.2102A= (p.Glu701=)
c.2564A= (p.Glu855=)
c.2501A= (p.Glu834=)
c.2498A= (p.Glu833=)
c.2456A= (p.Glu819=)
c.1529A= (p.Glu510=)
20g.63406751C>ACA409636756KCNQ2c.2566G>T (p.Glu856Ter)
c.2512G>T (p.Glu838Ter)
c.1909G>T (p.Glu637Ter)
c.2419G>T (p.Glu807Ter)
c.2080G>T (p.Glu694Ter)
c.2428G>T (p.Glu810Ter)
c.2241+295G>T (n.2241+295G>T)
c.2205+295G>T (n.2205+295G>T)
c.2458G>T (p.Glu820Ter)
c.2133+295G>T (n.2133+295G>T)
c.1680-5908G>T (n.1680-5908G>T)
c.2554G>T (p.Glu852Ter)
c.2620G>T (p.Glu874Ter)
c.2617G>T (p.Glu873Ter)
c.2590G>T (p.Glu864Ter)
c.2536G>T (p.Glu846Ter)
c.2509G>T (p.Glu837Ter)
c.2494G>T (p.Glu832Ter)
c.2101G>T (p.Glu701Ter)
c.2563G>T (p.Glu855Ter)
c.2500G>T (p.Glu834Ter)
c.2497G>T (p.Glu833Ter)
c.2455G>T (p.Glu819Ter)
c.1528G>T (p.Glu510Ter)
20g.63406751C>GCA409636757KCNQ2c.2566G>C (p.Glu856Gln)
c.2512G>C (p.Glu838Gln)
c.1909G>C (p.Glu637Gln)
c.2419G>C (p.Glu807Gln)
c.2080G>C (p.Glu694Gln)
c.2428G>C (p.Glu810Gln)
c.2241+295G>C (n.2241+295G>C)
c.2205+295G>C (n.2205+295G>C)
c.2458G>C (p.Glu820Gln)
c.2133+295G>C (n.2133+295G>C)
c.1680-5908G>C (n.1680-5908G>C)
c.2554G>C (p.Glu852Gln)
c.2620G>C (p.Glu874Gln)
c.2617G>C (p.Glu873Gln)
c.2590G>C (p.Glu864Gln)
c.2536G>C (p.Glu846Gln)
c.2509G>C (p.Glu837Gln)
c.2494G>C (p.Glu832Gln)
c.2101G>C (p.Glu701Gln)
c.2563G>C (p.Glu855Gln)
c.2500G>C (p.Glu834Gln)
c.2497G>C (p.Glu833Gln)
c.2455G>C (p.Glu819Gln)
c.1528G>C (p.Glu510Gln)
 ClinVar
20g.63406751C>TCA409636755KCNQ2c.2566G>A (p.Glu856Lys)
c.2512G>A (p.Glu838Lys)
c.1909G>A (p.Glu637Lys)
c.2419G>A (p.Glu807Lys)
c.2080G>A (p.Glu694Lys)
c.2428G>A (p.Glu810Lys)
c.2241+295G>A (n.2241+295G>A)
c.2205+295G>A (n.2205+295G>A)
c.2458G>A (p.Glu820Lys)
c.2133+295G>A (n.2133+295G>A)
c.1680-5908G>A (n.1680-5908G>A)
c.2554G>A (p.Glu852Lys)
c.2620G>A (p.Glu874Lys)
c.2617G>A (p.Glu873Lys)
c.2590G>A (p.Glu864Lys)
c.2536G>A (p.Glu846Lys)
c.2509G>A (p.Glu837Lys)
c.2494G>A (p.Glu832Lys)
c.2101G>A (p.Glu701Lys)
c.2563G>A (p.Glu855Lys)
c.2500G>A (p.Glu834Lys)
c.2497G>A (p.Glu833Lys)
c.2455G>A (p.Glu819Lys)
c.1528G>A (p.Glu510Lys)
20g.63406752T>ACA511339232KCNQ2c.2565A>T (p.Gly855=)
c.2511A>T (p.Gly837=)
c.1908A>T (p.Gly636=)
c.2418A>T (p.Gly806=)
c.2079A>T (p.Gly693=)
c.2427A>T (p.Gly809=)
c.2241+294A>T (n.2241+294A>T)
c.2205+294A>T (n.2205+294A>T)
c.2457A>T (p.Gly819=)
c.2133+294A>T (n.2133+294A>T)
c.1680-5909A>T (n.1680-5909A>T)
c.2553A>T (p.Gly851=)
c.2619A>T (p.Gly873=)
c.2616A>T (p.Gly872=)
c.2589A>T (p.Gly863=)
c.2535A>T (p.Gly845=)
c.2508A>T (p.Gly836=)
c.2493A>T (p.Gly831=)
c.2100A>T (p.Gly700=)
c.2562A>T (p.Gly854=)
c.2499A>T (p.Gly833=)
c.2496A>T (p.Gly832=)
c.2454A>T (p.Gly818=)
c.1527A>T (p.Gly509=)
20g.63406752T>CCA511339233KCNQ2c.2565A>G (p.Gly855=)
c.2511A>G (p.Gly837=)
c.1908A>G (p.Gly636=)
c.2418A>G (p.Gly806=)
c.2079A>G (p.Gly693=)
c.2427A>G (p.Gly809=)
c.2241+294A>G (n.2241+294A>G)
c.2205+294A>G (n.2205+294A>G)
c.2457A>G (p.Gly819=)
c.2133+294A>G (n.2133+294A>G)
c.1680-5909A>G (n.1680-5909A>G)
c.2553A>G (p.Gly851=)
c.2619A>G (p.Gly873=)
c.2616A>G (p.Gly872=)
c.2589A>G (p.Gly863=)
c.2535A>G (p.Gly845=)
c.2508A>G (p.Gly836=)
c.2493A>G (p.Gly831=)
c.2100A>G (p.Gly700=)
c.2562A>G (p.Gly854=)
c.2499A>G (p.Gly833=)
c.2496A>G (p.Gly832=)
c.2454A>G (p.Gly818=)
c.1527A>G (p.Gly509=)
20g.63406752T>GCA511339234KCNQ2c.2565A>C (p.Gly855=)
c.2511A>C (p.Gly837=)
c.1908A>C (p.Gly636=)
c.2418A>C (p.Gly806=)
c.2079A>C (p.Gly693=)
c.2427A>C (p.Gly809=)
c.2241+294A>C (n.2241+294A>C)
c.2205+294A>C (n.2205+294A>C)
c.2457A>C (p.Gly819=)
c.2133+294A>C (n.2133+294A>C)
c.1680-5909A>C (n.1680-5909A>C)
c.2553A>C (p.Gly851=)
c.2619A>C (p.Gly873=)
c.2616A>C (p.Gly872=)
c.2589A>C (p.Gly863=)
c.2535A>C (p.Gly845=)
c.2508A>C (p.Gly836=)
c.2493A>C (p.Gly831=)
c.2100A>C (p.Gly700=)
c.2562A>C (p.Gly854=)
c.2499A>C (p.Gly833=)
c.2496A>C (p.Gly832=)
c.2454A>C (p.Gly818=)
c.1527A>C (p.Gly509=)
20g.63406753C>ACA409636762KCNQ2c.2564G>T (p.Gly855Val)
c.2510G>T (p.Gly837Val)
c.1907G>T (p.Gly636Val)
c.2417G>T (p.Gly806Val)
c.2078G>T (p.Gly693Val)
c.2426G>T (p.Gly809Val)
c.2241+293G>T (n.2241+293G>T)
c.2205+293G>T (n.2205+293G>T)
c.2456G>T (p.Gly819Val)
c.2133+293G>T (n.2133+293G>T)
c.1680-5910G>T (n.1680-5910G>T)
c.2552G>T (p.Gly851Val)
c.2618G>T (p.Gly873Val)
c.2615G>T (p.Gly872Val)
c.2588G>T (p.Gly863Val)
c.2534G>T (p.Gly845Val)
c.2507G>T (p.Gly836Val)
c.2492G>T (p.Gly831Val)
c.2099G>T (p.Gly700Val)
c.2561G>T (p.Gly854Val)
c.2498G>T (p.Gly833Val)
c.2495G>T (p.Gly832Val)
c.2453G>T (p.Gly818Val)
c.1526G>T (p.Gly509Val)
 gnomAD v4
20g.63406753C>GCA409636760KCNQ2c.2564G>C (p.Gly855Ala)
c.2510G>C (p.Gly837Ala)
c.1907G>C (p.Gly636Ala)
c.2417G>C (p.Gly806Ala)
c.2078G>C (p.Gly693Ala)
c.2426G>C (p.Gly809Ala)
c.2241+293G>C (n.2241+293G>C)
c.2205+293G>C (n.2205+293G>C)
c.2456G>C (p.Gly819Ala)
c.2133+293G>C (n.2133+293G>C)
c.1680-5910G>C (n.1680-5910G>C)
c.2552G>C (p.Gly851Ala)
c.2618G>C (p.Gly873Ala)
c.2615G>C (p.Gly872Ala)
c.2588G>C (p.Gly863Ala)
c.2534G>C (p.Gly845Ala)
c.2507G>C (p.Gly836Ala)
c.2492G>C (p.Gly831Ala)
c.2099G>C (p.Gly700Ala)
c.2561G>C (p.Gly854Ala)
c.2498G>C (p.Gly833Ala)
c.2495G>C (p.Gly832Ala)
c.2453G>C (p.Gly818Ala)
c.1526G>C (p.Gly509Ala)
20g.63406753C>TCA409636763KCNQ2c.2564G>A (p.Gly855Glu)
c.2510G>A (p.Gly837Glu)
c.1907G>A (p.Gly636Glu)
c.2417G>A (p.Gly806Glu)
c.2078G>A (p.Gly693Glu)
c.2426G>A (p.Gly809Glu)
c.2241+293G>A (n.2241+293G>A)
c.2205+293G>A (n.2205+293G>A)
c.2456G>A (p.Gly819Glu)
c.2133+293G>A (n.2133+293G>A)
c.1680-5910G>A (n.1680-5910G>A)
c.2552G>A (p.Gly851Glu)
c.2618G>A (p.Gly873Glu)
c.2615G>A (p.Gly872Glu)
c.2588G>A (p.Gly863Glu)
c.2534G>A (p.Gly845Glu)
c.2507G>A (p.Gly836Glu)
c.2492G>A (p.Gly831Glu)
c.2099G>A (p.Gly700Glu)
c.2561G>A (p.Gly854Glu)
c.2498G>A (p.Gly833Glu)
c.2495G>A (p.Gly832Glu)
c.2453G>A (p.Gly818Glu)
c.1526G>A (p.Gly509Glu)
 gnomAD v4
20g.63406754C>ACA409636766KCNQ2c.2563G>T (p.Gly855Ter)
c.2509G>T (p.Gly837Ter)
c.1906G>T (p.Gly636Ter)
c.2416G>T (p.Gly806Ter)
c.2077G>T (p.Gly693Ter)
c.2425G>T (p.Gly809Ter)
c.2241+292G>T (n.2241+292G>T)
c.2205+292G>T (n.2205+292G>T)
c.2455G>T (p.Gly819Ter)
c.2133+292G>T (n.2133+292G>T)
c.1680-5911G>T (n.1680-5911G>T)
c.2551G>T (p.Gly851Ter)
c.2617G>T (p.Gly873Ter)
c.2614G>T (p.Gly872Ter)
c.2587G>T (p.Gly863Ter)
c.2533G>T (p.Gly845Ter)
c.2506G>T (p.Gly836Ter)
c.2491G>T (p.Gly831Ter)
c.2098G>T (p.Gly700Ter)
c.2560G>T (p.Gly854Ter)
c.2497G>T (p.Gly833Ter)
c.2494G>T (p.Gly832Ter)
c.2452G>T (p.Gly818Ter)
c.1525G>T (p.Gly509Ter)
20g.63406754C>GCA409636768KCNQ2c.2563G>C (p.Gly855Arg)
c.2509G>C (p.Gly837Arg)
c.1906G>C (p.Gly636Arg)
c.2416G>C (p.Gly806Arg)
c.2077G>C (p.Gly693Arg)
c.2425G>C (p.Gly809Arg)
c.2241+292G>C (n.2241+292G>C)
c.2205+292G>C (n.2205+292G>C)
c.2455G>C (p.Gly819Arg)
c.2133+292G>C (n.2133+292G>C)
c.1680-5911G>C (n.1680-5911G>C)
c.2551G>C (p.Gly851Arg)
c.2617G>C (p.Gly873Arg)
c.2614G>C (p.Gly872Arg)
c.2587G>C (p.Gly863Arg)
c.2533G>C (p.Gly845Arg)
c.2506G>C (p.Gly836Arg)
c.2491G>C (p.Gly831Arg)
c.2098G>C (p.Gly700Arg)
c.2560G>C (p.Gly854Arg)
c.2497G>C (p.Gly833Arg)
c.2494G>C (p.Gly832Arg)
c.2452G>C (p.Gly818Arg)
c.1525G>C (p.Gly509Arg)
20g.63406754C>TCA409636770KCNQ2c.2563G>A (p.Gly855Arg)
c.2509G>A (p.Gly837Arg)
c.1906G>A (p.Gly636Arg)
c.2416G>A (p.Gly806Arg)
c.2077G>A (p.Gly693Arg)
c.2425G>A (p.Gly809Arg)
c.2241+292G>A (n.2241+292G>A)
c.2205+292G>A (n.2205+292G>A)
c.2455G>A (p.Gly819Arg)
c.2133+292G>A (n.2133+292G>A)
c.1680-5911G>A (n.1680-5911G>A)
c.2551G>A (p.Gly851Arg)
c.2617G>A (p.Gly873Arg)
c.2614G>A (p.Gly872Arg)
c.2587G>A (p.Gly863Arg)
c.2533G>A (p.Gly845Arg)
c.2506G>A (p.Gly836Arg)
c.2491G>A (p.Gly831Arg)
c.2098G>A (p.Gly700Arg)
c.2560G>A (p.Gly854Arg)
c.2497G>A (p.Gly833Arg)
c.2494G>A (p.Gly832Arg)
c.2452G>A (p.Gly818Arg)
c.1525G>A (p.Gly509Arg)
20g.63406755C>ACA409636772KCNQ2c.2562G>T (p.Glu854Asp)
c.2508G>T (p.Glu836Asp)
c.1905G>T (p.Glu635Asp)
c.2415G>T (p.Glu805Asp)
c.2076G>T (p.Glu692Asp)
c.2424G>T (p.Glu808Asp)
c.2241+291G>T (n.2241+291G>T)
c.2205+291G>T (n.2205+291G>T)
c.2454G>T (p.Glu818Asp)
c.2133+291G>T (n.2133+291G>T)
c.1680-5912G>T (n.1680-5912G>T)
c.2550G>T (p.Glu850Asp)
c.2616G>T (p.Glu872Asp)
c.2613G>T (p.Glu871Asp)
c.2586G>T (p.Glu862Asp)
c.2532G>T (p.Glu844Asp)
c.2505G>T (p.Glu835Asp)
c.2490G>T (p.Glu830Asp)
c.2097G>T (p.Glu699Asp)
c.2559G>T (p.Glu853Asp)
c.2496G>T (p.Glu832Asp)
c.2493G>T (p.Glu831Asp)
c.2451G>T (p.Glu817Asp)
c.1524G>T (p.Glu508Asp)
20g.63406755C>GCA409636774KCNQ2c.2562G>C (p.Glu854Asp)
c.2508G>C (p.Glu836Asp)
c.1905G>C (p.Glu635Asp)
c.2415G>C (p.Glu805Asp)
c.2076G>C (p.Glu692Asp)
c.2424G>C (p.Glu808Asp)
c.2241+291G>C (n.2241+291G>C)
c.2205+291G>C (n.2205+291G>C)
c.2454G>C (p.Glu818Asp)
c.2133+291G>C (n.2133+291G>C)
c.1680-5912G>C (n.1680-5912G>C)
c.2550G>C (p.Glu850Asp)
c.2616G>C (p.Glu872Asp)
c.2613G>C (p.Glu871Asp)
c.2586G>C (p.Glu862Asp)
c.2532G>C (p.Glu844Asp)
c.2505G>C (p.Glu835Asp)
c.2490G>C (p.Glu830Asp)
c.2097G>C (p.Glu699Asp)
c.2559G>C (p.Glu853Asp)
c.2496G>C (p.Glu832Asp)
c.2493G>C (p.Glu831Asp)
c.2451G>C (p.Glu817Asp)
c.1524G>C (p.Glu508Asp)
20g.63406755C>TCA511339235KCNQ2c.2562G>A (p.Glu854=)
c.2508G>A (p.Glu836=)
c.1905G>A (p.Glu635=)
c.2415G>A (p.Glu805=)
c.2076G>A (p.Glu692=)
c.2424G>A (p.Glu808=)
c.2241+291G>A (n.2241+291G>A)
c.2205+291G>A (n.2205+291G>A)
c.2454G>A (p.Glu818=)
c.2133+291G>A (n.2133+291G>A)
c.1680-5912G>A (n.1680-5912G>A)
c.2550G>A (p.Glu850=)
c.2616G>A (p.Glu872=)
c.2613G>A (p.Glu871=)
c.2586G>A (p.Glu862=)
c.2532G>A (p.Glu844=)
c.2505G>A (p.Glu835=)
c.2490G>A (p.Glu830=)
c.2097G>A (p.Glu699=)
c.2559G>A (p.Glu853=)
c.2496G>A (p.Glu832=)
c.2493G>A (p.Glu831=)
c.2451G>A (p.Glu817=)
c.1524G>A (p.Glu508=)
 gnomAD v4
20g.63406756T>ACA409636776KCNQ2c.2561A>T (p.Glu854Val)
c.2507A>T (p.Glu836Val)
c.1904A>T (p.Glu635Val)
c.2414A>T (p.Glu805Val)
c.2075A>T (p.Glu692Val)
c.2423A>T (p.Glu808Val)
c.2241+290A>T (n.2241+290A>T)
c.2205+290A>T (n.2205+290A>T)
c.2453A>T (p.Glu818Val)
c.2133+290A>T (n.2133+290A>T)
c.1680-5913A>T (n.1680-5913A>T)
c.2549A>T (p.Glu850Val)
c.2615A>T (p.Glu872Val)
c.2612A>T (p.Glu871Val)
c.2585A>T (p.Glu862Val)
c.2531A>T (p.Glu844Val)
c.2504A>T (p.Glu835Val)
c.2489A>T (p.Glu830Val)
c.2096A>T (p.Glu699Val)
c.2558A>T (p.Glu853Val)
c.2495A>T (p.Glu832Val)
c.2492A>T (p.Glu831Val)
c.2450A>T (p.Glu817Val)
c.1523A>T (p.Glu508Val)
20g.63406756T>CCA409636778KCNQ2c.2561A>G (p.Glu854Gly)
c.2507A>G (p.Glu836Gly)
c.1904A>G (p.Glu635Gly)
c.2414A>G (p.Glu805Gly)
c.2075A>G (p.Glu692Gly)
c.2423A>G (p.Glu808Gly)
c.2241+290A>G (n.2241+290A>G)
c.2205+290A>G (n.2205+290A>G)
c.2453A>G (p.Glu818Gly)
c.2133+290A>G (n.2133+290A>G)
c.1680-5913A>G (n.1680-5913A>G)
c.2549A>G (p.Glu850Gly)
c.2615A>G (p.Glu872Gly)
c.2612A>G (p.Glu871Gly)
c.2585A>G (p.Glu862Gly)
c.2531A>G (p.Glu844Gly)
c.2504A>G (p.Glu835Gly)
c.2489A>G (p.Glu830Gly)
c.2096A>G (p.Glu699Gly)
c.2558A>G (p.Glu853Gly)
c.2495A>G (p.Glu832Gly)
c.2492A>G (p.Glu831Gly)
c.2450A>G (p.Glu817Gly)
c.1523A>G (p.Glu508Gly)
 dbSNP gnomAD v2 gnomAD v4
20g.63406756T>GCA409636779KCNQ2c.2561A>C (p.Glu854Ala)
c.2507A>C (p.Glu836Ala)
c.1904A>C (p.Glu635Ala)
c.2414A>C (p.Glu805Ala)
c.2075A>C (p.Glu692Ala)
c.2423A>C (p.Glu808Ala)
c.2241+290A>C (n.2241+290A>C)
c.2205+290A>C (n.2205+290A>C)
c.2453A>C (p.Glu818Ala)
c.2133+290A>C (n.2133+290A>C)
c.1680-5913A>C (n.1680-5913A>C)
c.2549A>C (p.Glu850Ala)
c.2615A>C (p.Glu872Ala)
c.2612A>C (p.Glu871Ala)
c.2585A>C (p.Glu862Ala)
c.2531A>C (p.Glu844Ala)
c.2504A>C (p.Glu835Ala)
c.2489A>C (p.Glu830Ala)
c.2096A>C (p.Glu699Ala)
c.2558A>C (p.Glu853Ala)
c.2495A>C (p.Glu832Ala)
c.2492A>C (p.Glu831Ala)
c.2450A>C (p.Glu817Ala)
c.1523A>C (p.Glu508Ala)
20g.63406756T=CA2374774231KCNQ2c.2561A= (p.Glu854=)
c.2507A= (p.Glu836=)
c.1904A= (p.Glu635=)
c.2414A= (p.Glu805=)
c.2075A= (p.Glu692=)
c.2423A= (p.Glu808=)
c.2241+290A= (n.2241+290A=)
c.2205+290A= (n.2205+290A=)
c.2453A= (p.Glu818=)
c.2133+290A= (n.2133+290A=)
c.1680-5913A= (n.1680-5913A=)
c.2549A= (p.Glu850=)
c.2615A= (p.Glu872=)
c.2612A= (p.Glu871=)
c.2585A= (p.Glu862=)
c.2531A= (p.Glu844=)
c.2504A= (p.Glu835=)
c.2489A= (p.Glu830=)
c.2096A= (p.Glu699=)
c.2558A= (p.Glu853=)
c.2495A= (p.Glu832=)
c.2492A= (p.Glu831=)
c.2450A= (p.Glu817=)
c.1523A= (p.Glu508=)
20g.63406757C>ACA409636782KCNQ2c.2560G>T (p.Glu854Ter)
c.2506G>T (p.Glu836Ter)
c.1903G>T (p.Glu635Ter)
c.2413G>T (p.Glu805Ter)
c.2074G>T (p.Glu692Ter)
c.2422G>T (p.Glu808Ter)
c.2241+289G>T (n.2241+289G>T)
c.2205+289G>T (n.2205+289G>T)
c.2452G>T (p.Glu818Ter)
c.2133+289G>T (n.2133+289G>T)
c.1680-5914G>T (n.1680-5914G>T)
c.2548G>T (p.Glu850Ter)
c.2614G>T (p.Glu872Ter)
c.2611G>T (p.Glu871Ter)
c.2584G>T (p.Glu862Ter)
c.2530G>T (p.Glu844Ter)
c.2503G>T (p.Glu835Ter)
c.2488G>T (p.Glu830Ter)
c.2095G>T (p.Glu699Ter)
c.2557G>T (p.Glu853Ter)
c.2494G>T (p.Glu832Ter)
c.2491G>T (p.Glu831Ter)
c.2449G>T (p.Glu817Ter)
c.1522G>T (p.Glu508Ter)
20g.63406757C>GCA409636784KCNQ2c.2560G>C (p.Glu854Gln)
c.2506G>C (p.Glu836Gln)
c.1903G>C (p.Glu635Gln)
c.2413G>C (p.Glu805Gln)
c.2074G>C (p.Glu692Gln)
c.2422G>C (p.Glu808Gln)
c.2241+289G>C (n.2241+289G>C)
c.2205+289G>C (n.2205+289G>C)
c.2452G>C (p.Glu818Gln)
c.2133+289G>C (n.2133+289G>C)
c.1680-5914G>C (n.1680-5914G>C)
c.2548G>C (p.Glu850Gln)
c.2614G>C (p.Glu872Gln)
c.2611G>C (p.Glu871Gln)
c.2584G>C (p.Glu862Gln)
c.2530G>C (p.Glu844Gln)
c.2503G>C (p.Glu835Gln)
c.2488G>C (p.Glu830Gln)
c.2095G>C (p.Glu699Gln)
c.2557G>C (p.Glu853Gln)
c.2494G>C (p.Glu832Gln)
c.2491G>C (p.Glu831Gln)
c.2449G>C (p.Glu817Gln)
c.1522G>C (p.Glu508Gln)
 ClinVar gnomAD v4
20g.63406757C>TCA409636786KCNQ2c.2560G>A (p.Glu854Lys)
c.2506G>A (p.Glu836Lys)
c.1903G>A (p.Glu635Lys)
c.2413G>A (p.Glu805Lys)
c.2074G>A (p.Glu692Lys)
c.2422G>A (p.Glu808Lys)
c.2241+289G>A (n.2241+289G>A)
c.2205+289G>A (n.2205+289G>A)
c.2452G>A (p.Glu818Lys)
c.2133+289G>A (n.2133+289G>A)
c.1680-5914G>A (n.1680-5914G>A)
c.2548G>A (p.Glu850Lys)
c.2614G>A (p.Glu872Lys)
c.2611G>A (p.Glu871Lys)
c.2584G>A (p.Glu862Lys)
c.2530G>A (p.Glu844Lys)
c.2503G>A (p.Glu835Lys)
c.2488G>A (p.Glu830Lys)
c.2095G>A (p.Glu699Lys)
c.2557G>A (p.Glu853Lys)
c.2494G>A (p.Glu832Lys)
c.2491G>A (p.Glu831Lys)
c.2449G>A (p.Glu817Lys)
c.1522G>A (p.Glu508Lys)
 gnomAD v4
20g.63406758C>ACA511339238KCNQ2c.2559G>T (p.Ala853=)
c.2505G>T (p.Ala835=)
c.1902G>T (p.Ala634=)
c.2412G>T (p.Ala804=)
c.2073G>T (p.Ala691=)
c.2421G>T (p.Ala807=)
c.2241+288G>T (n.2241+288G>T)
c.2205+288G>T (n.2205+288G>T)
c.2451G>T (p.Ala817=)
c.2133+288G>T (n.2133+288G>T)
c.1680-5915G>T (n.1680-5915G>T)
c.2547G>T (p.Ala849=)
c.2613G>T (p.Ala871=)
c.2610G>T (p.Ala870=)
c.2583G>T (p.Ala861=)
c.2529G>T (p.Ala843=)
c.2502G>T (p.Ala834=)
c.2487G>T (p.Ala829=)
c.2094G>T (p.Ala698=)
c.2556G>T (p.Ala852=)
c.2493G>T (p.Ala831=)
c.2490G>T (p.Ala830=)
c.2448G>T (p.Ala816=)
c.1521G>T (p.Ala507=)
 dbSNP gnomAD v4
20g.63406758C=CA2374774232KCNQ2c.2559G= (p.Ala853=)
c.2505G= (p.Ala835=)
c.1902G= (p.Ala634=)
c.2412G= (p.Ala804=)
c.2073G= (p.Ala691=)
c.2421G= (p.Ala807=)
c.2241+288G= (n.2241+288G=)
c.2205+288G= (n.2205+288G=)
c.2451G= (p.Ala817=)
c.2133+288G= (n.2133+288G=)
c.1680-5915G= (n.1680-5915G=)
c.2547G= (p.Ala849=)
c.2613G= (p.Ala871=)
c.2610G= (p.Ala870=)
c.2583G= (p.Ala861=)
c.2529G= (p.Ala843=)
c.2502G= (p.Ala834=)
c.2487G= (p.Ala829=)
c.2094G= (p.Ala698=)
c.2556G= (p.Ala852=)
c.2493G= (p.Ala831=)
c.2490G= (p.Ala830=)
c.2448G= (p.Ala816=)
c.1521G= (p.Ala507=)
20g.63406758C>GCA511339237KCNQ2c.2559G>C (p.Ala853=)
c.2505G>C (p.Ala835=)
c.1902G>C (p.Ala634=)
c.2412G>C (p.Ala804=)
c.2073G>C (p.Ala691=)
c.2421G>C (p.Ala807=)
c.2241+288G>C (n.2241+288G>C)
c.2205+288G>C (n.2205+288G>C)
c.2451G>C (p.Ala817=)
c.2133+288G>C (n.2133+288G>C)
c.1680-5915G>C (n.1680-5915G>C)
c.2547G>C (p.Ala849=)
c.2613G>C (p.Ala871=)
c.2610G>C (p.Ala870=)
c.2583G>C (p.Ala861=)
c.2529G>C (p.Ala843=)
c.2502G>C (p.Ala834=)
c.2487G>C (p.Ala829=)
c.2094G>C (p.Ala698=)
c.2556G>C (p.Ala852=)
c.2493G>C (p.Ala831=)
c.2490G>C (p.Ala830=)
c.2448G>C (p.Ala816=)
c.1521G>C (p.Ala507=)
 ClinVar dbSNP gnomAD v4
20g.63406758C>TCA9958066KCNQ2c.2559G>A (p.Ala853=)
c.2505G>A (p.Ala835=)
c.1902G>A (p.Ala634=)
c.2412G>A (p.Ala804=)
c.2073G>A (p.Ala691=)
c.2421G>A (p.Ala807=)
c.2241+288G>A (n.2241+288G>A)
c.2205+288G>A (n.2205+288G>A)
c.2451G>A (p.Ala817=)
c.2133+288G>A (n.2133+288G>A)
c.1680-5915G>A (n.1680-5915G>A)
c.2547G>A (p.Ala849=)
c.2613G>A (p.Ala871=)
c.2610G>A (p.Ala870=)
c.2583G>A (p.Ala861=)
c.2529G>A (p.Ala843=)
c.2502G>A (p.Ala834=)
c.2487G>A (p.Ala829=)
c.2094G>A (p.Ala698=)
c.2556G>A (p.Ala852=)
c.2493G>A (p.Ala831=)
c.2490G>A (p.Ala830=)
c.2448G>A (p.Ala816=)
c.1521G>A (p.Ala507=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406759G>ACA9958067KCNQ2c.2558C>T (p.Ala853Val)
c.2504C>T (p.Ala835Val)
c.1901C>T (p.Ala634Val)
c.2411C>T (p.Ala804Val)
c.2072C>T (p.Ala691Val)
c.2420C>T (p.Ala807Val)
c.2241+287C>T (n.2241+287C>T)
c.2205+287C>T (n.2205+287C>T)
c.2450C>T (p.Ala817Val)
c.2133+287C>T (n.2133+287C>T)
c.1680-5916C>T (n.1680-5916C>T)
c.2546C>T (p.Ala849Val)
c.2612C>T (p.Ala871Val)
c.2609C>T (p.Ala870Val)
c.2582C>T (p.Ala861Val)
c.2528C>T (p.Ala843Val)
c.2501C>T (p.Ala834Val)
c.2486C>T (p.Ala829Val)
c.2093C>T (p.Ala698Val)
c.2555C>T (p.Ala852Val)
c.2492C>T (p.Ala831Val)
c.2489C>T (p.Ala830Val)
c.2447C>T (p.Ala816Val)
c.1520C>T (p.Ala507Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406759G>CCA409636791KCNQ2c.2558C>G (p.Ala853Gly)
c.2504C>G (p.Ala835Gly)
c.1901C>G (p.Ala634Gly)
c.2411C>G (p.Ala804Gly)
c.2072C>G (p.Ala691Gly)
c.2420C>G (p.Ala807Gly)
c.2241+287C>G (n.2241+287C>G)
c.2205+287C>G (n.2205+287C>G)
c.2450C>G (p.Ala817Gly)
c.2133+287C>G (n.2133+287C>G)
c.1680-5916C>G (n.1680-5916C>G)
c.2546C>G (p.Ala849Gly)
c.2612C>G (p.Ala871Gly)
c.2609C>G (p.Ala870Gly)
c.2582C>G (p.Ala861Gly)
c.2528C>G (p.Ala843Gly)
c.2501C>G (p.Ala834Gly)
c.2486C>G (p.Ala829Gly)
c.2093C>G (p.Ala698Gly)
c.2555C>G (p.Ala852Gly)
c.2492C>G (p.Ala831Gly)
c.2489C>G (p.Ala830Gly)
c.2447C>G (p.Ala816Gly)
c.1520C>G (p.Ala507Gly)
20g.63406759G=CA2374774233KCNQ2c.2558C= (p.Ala853=)
c.2504C= (p.Ala835=)
c.1901C= (p.Ala634=)
c.2411C= (p.Ala804=)
c.2072C= (p.Ala691=)
c.2420C= (p.Ala807=)
c.2241+287C= (n.2241+287C=)
c.2205+287C= (n.2205+287C=)
c.2450C= (p.Ala817=)
c.2133+287C= (n.2133+287C=)
c.1680-5916C= (n.1680-5916C=)
c.2546C= (p.Ala849=)
c.2612C= (p.Ala871=)
c.2609C= (p.Ala870=)
c.2582C= (p.Ala861=)
c.2528C= (p.Ala843=)
c.2501C= (p.Ala834=)
c.2486C= (p.Ala829=)
c.2093C= (p.Ala698=)
c.2555C= (p.Ala852=)
c.2492C= (p.Ala831=)
c.2489C= (p.Ala830=)
c.2447C= (p.Ala816=)
c.1520C= (p.Ala507=)
20g.63406759G>TCA409636789KCNQ2c.2558C>A (p.Ala853Glu)
c.2504C>A (p.Ala835Glu)
c.1901C>A (p.Ala634Glu)
c.2411C>A (p.Ala804Glu)
c.2072C>A (p.Ala691Glu)
c.2420C>A (p.Ala807Glu)
c.2241+287C>A (n.2241+287C>A)
c.2205+287C>A (n.2205+287C>A)
c.2450C>A (p.Ala817Glu)
c.2133+287C>A (n.2133+287C>A)
c.1680-5916C>A (n.1680-5916C>A)
c.2546C>A (p.Ala849Glu)
c.2612C>A (p.Ala871Glu)
c.2609C>A (p.Ala870Glu)
c.2582C>A (p.Ala861Glu)
c.2528C>A (p.Ala843Glu)
c.2501C>A (p.Ala834Glu)
c.2486C>A (p.Ala829Glu)
c.2093C>A (p.Ala698Glu)
c.2555C>A (p.Ala852Glu)
c.2492C>A (p.Ala831Glu)
c.2489C>A (p.Ala830Glu)
c.2447C>A (p.Ala816Glu)
c.1520C>A (p.Ala507Glu)
20g.63406760C>ACA409636795KCNQ2c.2557G>T (p.Ala853Ser)
c.2503G>T (p.Ala835Ser)
c.1900G>T (p.Ala634Ser)
c.2410G>T (p.Ala804Ser)
c.2071G>T (p.Ala691Ser)
c.2419G>T (p.Ala807Ser)
c.2241+286G>T (n.2241+286G>T)
c.2205+286G>T (n.2205+286G>T)
c.2449G>T (p.Ala817Ser)
c.2133+286G>T (n.2133+286G>T)
c.1680-5917G>T (n.1680-5917G>T)
c.2545G>T (p.Ala849Ser)
c.2611G>T (p.Ala871Ser)
c.2608G>T (p.Ala870Ser)
c.2581G>T (p.Ala861Ser)
c.2527G>T (p.Ala843Ser)
c.2500G>T (p.Ala834Ser)
c.2485G>T (p.Ala829Ser)
c.2092G>T (p.Ala698Ser)
c.2554G>T (p.Ala852Ser)
c.2491G>T (p.Ala831Ser)
c.2488G>T (p.Ala830Ser)
c.2446G>T (p.Ala816Ser)
c.1519G>T (p.Ala507Ser)
20g.63406760C>GCA409636796KCNQ2c.2557G>C (p.Ala853Pro)
c.2503G>C (p.Ala835Pro)
c.1900G>C (p.Ala634Pro)
c.2410G>C (p.Ala804Pro)
c.2071G>C (p.Ala691Pro)
c.2419G>C (p.Ala807Pro)
c.2241+286G>C (n.2241+286G>C)
c.2205+286G>C (n.2205+286G>C)
c.2449G>C (p.Ala817Pro)
c.2133+286G>C (n.2133+286G>C)
c.1680-5917G>C (n.1680-5917G>C)
c.2545G>C (p.Ala849Pro)
c.2611G>C (p.Ala871Pro)
c.2608G>C (p.Ala870Pro)
c.2581G>C (p.Ala861Pro)
c.2527G>C (p.Ala843Pro)
c.2500G>C (p.Ala834Pro)
c.2485G>C (p.Ala829Pro)
c.2092G>C (p.Ala698Pro)
c.2554G>C (p.Ala852Pro)
c.2491G>C (p.Ala831Pro)
c.2488G>C (p.Ala830Pro)
c.2446G>C (p.Ala816Pro)
c.1519G>C (p.Ala507Pro)
20g.63406760C>TCA409636797KCNQ2c.2557G>A (p.Ala853Thr)
c.2503G>A (p.Ala835Thr)
c.1900G>A (p.Ala634Thr)
c.2410G>A (p.Ala804Thr)
c.2071G>A (p.Ala691Thr)
c.2419G>A (p.Ala807Thr)
c.2241+286G>A (n.2241+286G>A)
c.2205+286G>A (n.2205+286G>A)
c.2449G>A (p.Ala817Thr)
c.2133+286G>A (n.2133+286G>A)
c.1680-5917G>A (n.1680-5917G>A)
c.2545G>A (p.Ala849Thr)
c.2611G>A (p.Ala871Thr)
c.2608G>A (p.Ala870Thr)
c.2581G>A (p.Ala861Thr)
c.2527G>A (p.Ala843Thr)
c.2500G>A (p.Ala834Thr)
c.2485G>A (p.Ala829Thr)
c.2092G>A (p.Ala698Thr)
c.2554G>A (p.Ala852Thr)
c.2491G>A (p.Ala831Thr)
c.2488G>A (p.Ala830Thr)
c.2446G>A (p.Ala816Thr)
c.1519G>A (p.Ala507Thr)
20g.63406761A>CCA409636800KCNQ2c.2556T>G (p.Ile852Met)
c.2502T>G (p.Ile834Met)
c.1899T>G (p.Ile633Met)
c.2409T>G (p.Ile803Met)
c.2070T>G (p.Ile690Met)
c.2418T>G (p.Ile806Met)
c.2241+285T>G (n.2241+285T>G)
c.2205+285T>G (n.2205+285T>G)
c.2448T>G (p.Ile816Met)
c.2133+285T>G (n.2133+285T>G)
c.1680-5918T>G (n.1680-5918T>G)
c.2544T>G (p.Ile848Met)
c.2610T>G (p.Ile870Met)
c.2607T>G (p.Ile869Met)
c.2580T>G (p.Ile860Met)
c.2526T>G (p.Ile842Met)
c.2499T>G (p.Ile833Met)
c.2484T>G (p.Ile828Met)
c.2091T>G (p.Ile697Met)
c.2553T>G (p.Ile851Met)
c.2490T>G (p.Ile830Met)
c.2487T>G (p.Ile829Met)
c.2445T>G (p.Ile815Met)
c.1518T>G (p.Ile506Met)
20g.63406761A>GCA511339245KCNQ2c.2556T>C (p.Ile852=)
c.2502T>C (p.Ile834=)
c.1899T>C (p.Ile633=)
c.2409T>C (p.Ile803=)
c.2070T>C (p.Ile690=)
c.2418T>C (p.Ile806=)
c.2241+285T>C (n.2241+285T>C)
c.2205+285T>C (n.2205+285T>C)
c.2448T>C (p.Ile816=)
c.2133+285T>C (n.2133+285T>C)
c.1680-5918T>C (n.1680-5918T>C)
c.2544T>C (p.Ile848=)
c.2610T>C (p.Ile870=)
c.2607T>C (p.Ile869=)
c.2580T>C (p.Ile860=)
c.2526T>C (p.Ile842=)
c.2499T>C (p.Ile833=)
c.2484T>C (p.Ile828=)
c.2091T>C (p.Ile697=)
c.2553T>C (p.Ile851=)
c.2490T>C (p.Ile830=)
c.2487T>C (p.Ile829=)
c.2445T>C (p.Ile815=)
c.1518T>C (p.Ile506=)
 dbSNP gnomAD v4
20g.63406761A>TCA511339242KCNQ2c.2556T>A (p.Ile852=)
c.2502T>A (p.Ile834=)
c.1899T>A (p.Ile633=)
c.2409T>A (p.Ile803=)
c.2070T>A (p.Ile690=)
c.2418T>A (p.Ile806=)
c.2241+285T>A (n.2241+285T>A)
c.2205+285T>A (n.2205+285T>A)
c.2448T>A (p.Ile816=)
c.2133+285T>A (n.2133+285T>A)
c.1680-5918T>A (n.1680-5918T>A)
c.2544T>A (p.Ile848=)
c.2610T>A (p.Ile870=)
c.2607T>A (p.Ile869=)
c.2580T>A (p.Ile860=)
c.2526T>A (p.Ile842=)
c.2499T>A (p.Ile833=)
c.2484T>A (p.Ile828=)
c.2091T>A (p.Ile697=)
c.2553T>A (p.Ile851=)
c.2490T>A (p.Ile830=)
c.2487T>A (p.Ile829=)
c.2445T>A (p.Ile815=)
c.1518T>A (p.Ile506=)
20g.63406762A>CCA409636802KCNQ2c.2555T>G (p.Ile852Ser)
c.2501T>G (p.Ile834Ser)
c.1898T>G (p.Ile633Ser)
c.2408T>G (p.Ile803Ser)
c.2069T>G (p.Ile690Ser)
c.2417T>G (p.Ile806Ser)
c.2241+284T>G (n.2241+284T>G)
c.2205+284T>G (n.2205+284T>G)
c.2447T>G (p.Ile816Ser)
c.2133+284T>G (n.2133+284T>G)
c.1680-5919T>G (n.1680-5919T>G)
c.2543T>G (p.Ile848Ser)
c.2609T>G (p.Ile870Ser)
c.2606T>G (p.Ile869Ser)
c.2579T>G (p.Ile860Ser)
c.2525T>G (p.Ile842Ser)
c.2498T>G (p.Ile833Ser)
c.2483T>G (p.Ile828Ser)
c.2090T>G (p.Ile697Ser)
c.2552T>G (p.Ile851Ser)
c.2489T>G (p.Ile830Ser)
c.2486T>G (p.Ile829Ser)
c.2444T>G (p.Ile815Ser)
c.1517T>G (p.Ile506Ser)
20g.63406762A>GCA409636804KCNQ2c.2555T>C (p.Ile852Thr)
c.2501T>C (p.Ile834Thr)
c.1898T>C (p.Ile633Thr)
c.2408T>C (p.Ile803Thr)
c.2069T>C (p.Ile690Thr)
c.2417T>C (p.Ile806Thr)
c.2241+284T>C (n.2241+284T>C)
c.2205+284T>C (n.2205+284T>C)
c.2447T>C (p.Ile816Thr)
c.2133+284T>C (n.2133+284T>C)
c.1680-5919T>C (n.1680-5919T>C)
c.2543T>C (p.Ile848Thr)
c.2609T>C (p.Ile870Thr)
c.2606T>C (p.Ile869Thr)
c.2579T>C (p.Ile860Thr)
c.2525T>C (p.Ile842Thr)
c.2498T>C (p.Ile833Thr)
c.2483T>C (p.Ile828Thr)
c.2090T>C (p.Ile697Thr)
c.2552T>C (p.Ile851Thr)
c.2489T>C (p.Ile830Thr)
c.2486T>C (p.Ile829Thr)
c.2444T>C (p.Ile815Thr)
c.1517T>C (p.Ile506Thr)
 gnomAD v4 COSMIC COSMIC COSMIC
20g.63406762A>TCA409636805KCNQ2c.2555T>A (p.Ile852Asn)
c.2501T>A (p.Ile834Asn)
c.1898T>A (p.Ile633Asn)
c.2408T>A (p.Ile803Asn)
c.2069T>A (p.Ile690Asn)
c.2417T>A (p.Ile806Asn)
c.2241+284T>A (n.2241+284T>A)
c.2205+284T>A (n.2205+284T>A)
c.2447T>A (p.Ile816Asn)
c.2133+284T>A (n.2133+284T>A)
c.1680-5919T>A (n.1680-5919T>A)
c.2543T>A (p.Ile848Asn)
c.2609T>A (p.Ile870Asn)
c.2606T>A (p.Ile869Asn)
c.2579T>A (p.Ile860Asn)
c.2525T>A (p.Ile842Asn)
c.2498T>A (p.Ile833Asn)
c.2483T>A (p.Ile828Asn)
c.2090T>A (p.Ile697Asn)
c.2552T>A (p.Ile851Asn)
c.2489T>A (p.Ile830Asn)
c.2486T>A (p.Ile829Asn)
c.2444T>A (p.Ile815Asn)
c.1517T>A (p.Ile506Asn)
20g.63406763T>ACA409636808KCNQ2c.2554A>T (p.Ile852Phe)
c.2500A>T (p.Ile834Phe)
c.1897A>T (p.Ile633Phe)
c.2407A>T (p.Ile803Phe)
c.2068A>T (p.Ile690Phe)
c.2416A>T (p.Ile806Phe)
c.2241+283A>T (n.2241+283A>T)
c.2205+283A>T (n.2205+283A>T)
c.2446A>T (p.Ile816Phe)
c.2133+283A>T (n.2133+283A>T)
c.1680-5920A>T (n.1680-5920A>T)
c.2542A>T (p.Ile848Phe)
c.2608A>T (p.Ile870Phe)
c.2605A>T (p.Ile869Phe)
c.2578A>T (p.Ile860Phe)
c.2524A>T (p.Ile842Phe)
c.2497A>T (p.Ile833Phe)
c.2482A>T (p.Ile828Phe)
c.2089A>T (p.Ile697Phe)
c.2551A>T (p.Ile851Phe)
c.2488A>T (p.Ile830Phe)
c.2485A>T (p.Ile829Phe)
c.2443A>T (p.Ile815Phe)
c.1516A>T (p.Ile506Phe)
20g.63406763T>CCA409636810KCNQ2c.2554A>G (p.Ile852Val)
c.2500A>G (p.Ile834Val)
c.1897A>G (p.Ile633Val)
c.2407A>G (p.Ile803Val)
c.2068A>G (p.Ile690Val)
c.2416A>G (p.Ile806Val)
c.2241+283A>G (n.2241+283A>G)
c.2205+283A>G (n.2205+283A>G)
c.2446A>G (p.Ile816Val)
c.2133+283A>G (n.2133+283A>G)
c.1680-5920A>G (n.1680-5920A>G)
c.2542A>G (p.Ile848Val)
c.2608A>G (p.Ile870Val)
c.2605A>G (p.Ile869Val)
c.2578A>G (p.Ile860Val)
c.2524A>G (p.Ile842Val)
c.2497A>G (p.Ile833Val)
c.2482A>G (p.Ile828Val)
c.2089A>G (p.Ile697Val)
c.2551A>G (p.Ile851Val)
c.2488A>G (p.Ile830Val)
c.2485A>G (p.Ile829Val)
c.2443A>G (p.Ile815Val)
c.1516A>G (p.Ile506Val)
 ClinVar dbSNP gnomAD v4
20g.63406763T>GCA409636812KCNQ2c.2554A>C (p.Ile852Leu)
c.2500A>C (p.Ile834Leu)
c.1897A>C (p.Ile633Leu)
c.2407A>C (p.Ile803Leu)
c.2068A>C (p.Ile690Leu)
c.2416A>C (p.Ile806Leu)
c.2241+283A>C (n.2241+283A>C)
c.2205+283A>C (n.2205+283A>C)
c.2446A>C (p.Ile816Leu)
c.2133+283A>C (n.2133+283A>C)
c.1680-5920A>C (n.1680-5920A>C)
c.2542A>C (p.Ile848Leu)
c.2608A>C (p.Ile870Leu)
c.2605A>C (p.Ile869Leu)
c.2578A>C (p.Ile860Leu)
c.2524A>C (p.Ile842Leu)
c.2497A>C (p.Ile833Leu)
c.2482A>C (p.Ile828Leu)
c.2089A>C (p.Ile697Leu)
c.2551A>C (p.Ile851Leu)
c.2488A>C (p.Ile830Leu)
c.2485A>C (p.Ile829Leu)
c.2443A>C (p.Ile815Leu)
c.1516A>C (p.Ile506Leu)
20g.63406763T=CA2374774234KCNQ2c.2554A= (p.Ile852=)
c.2500A= (p.Ile834=)
c.1897A= (p.Ile633=)
c.2407A= (p.Ile803=)
c.2068A= (p.Ile690=)
c.2416A= (p.Ile806=)
c.2241+283A= (n.2241+283A=)
c.2205+283A= (n.2205+283A=)
c.2446A= (p.Ile816=)
c.2133+283A= (n.2133+283A=)
c.1680-5920A= (n.1680-5920A=)
c.2542A= (p.Ile848=)
c.2608A= (p.Ile870=)
c.2605A= (p.Ile869=)
c.2578A= (p.Ile860=)
c.2524A= (p.Ile842=)
c.2497A= (p.Ile833=)
c.2482A= (p.Ile828=)
c.2089A= (p.Ile697=)
c.2551A= (p.Ile851=)
c.2488A= (p.Ile830=)
c.2485A= (p.Ile829=)
c.2443A= (p.Ile815=)
c.1516A= (p.Ile506=)
20g.63406764delCA2653804728KCNQ2c.2553del (p.Tyr851Ter)
c.2499del (p.Tyr833Ter)
c.1896del (p.Tyr632Ter)
c.2406del (p.Tyr802Ter)
c.2067del (p.Tyr689Ter)
c.2415del (p.Tyr805Ter)
c.2241+282del (n.2241+282del)
c.2205+282del (n.2205+282del)
c.2445del (p.Tyr815Ter)
c.2133+282del (n.2133+282del)
c.1680-5921del (n.1680-5921del)
c.2541del (p.Tyr847Ter)
c.2607del (p.Tyr869Ter)
c.2604del (p.Tyr868Ter)
c.2577del (p.Tyr859Ter)
c.2523del (p.Tyr841Ter)
c.2496del (p.Tyr832Ter)
c.2481del (p.Tyr827Ter)
c.2088del (p.Tyr696Ter)
c.2550del (p.Tyr850Ter)
c.2487del (p.Tyr829Ter)
c.2484del (p.Tyr828Ter)
c.2442del (p.Tyr814Ter)
c.1515del (p.Tyr505Ter)
 gnomAD v4
20g.63406764G>ACA511339249KCNQ2c.2553C>T (p.Tyr851=)
c.2499C>T (p.Tyr833=)
c.1896C>T (p.Tyr632=)
c.2406C>T (p.Tyr802=)
c.2067C>T (p.Tyr689=)
c.2415C>T (p.Tyr805=)
c.2241+282C>T (n.2241+282C>T)
c.2205+282C>T (n.2205+282C>T)
c.2445C>T (p.Tyr815=)
c.2133+282C>T (n.2133+282C>T)
c.1680-5921C>T (n.1680-5921C>T)
c.2541C>T (p.Tyr847=)
c.2607C>T (p.Tyr869=)
c.2604C>T (p.Tyr868=)
c.2577C>T (p.Tyr859=)
c.2523C>T (p.Tyr841=)
c.2496C>T (p.Tyr832=)
c.2481C>T (p.Tyr827=)
c.2088C>T (p.Tyr696=)
c.2550C>T (p.Tyr850=)
c.2487C>T (p.Tyr829=)
c.2484C>T (p.Tyr828=)
c.2442C>T (p.Tyr814=)
c.1515C>T (p.Tyr505=)
 dbSNP gnomAD v3 gnomAD v4
20g.63406764G>CCA409636815KCNQ2c.2553C>G (p.Tyr851Ter)
c.2499C>G (p.Tyr833Ter)
c.1896C>G (p.Tyr632Ter)
c.2406C>G (p.Tyr802Ter)
c.2067C>G (p.Tyr689Ter)
c.2415C>G (p.Tyr805Ter)
c.2241+282C>G (n.2241+282C>G)
c.2205+282C>G (n.2205+282C>G)
c.2445C>G (p.Tyr815Ter)
c.2133+282C>G (n.2133+282C>G)
c.1680-5921C>G (n.1680-5921C>G)
c.2541C>G (p.Tyr847Ter)
c.2607C>G (p.Tyr869Ter)
c.2604C>G (p.Tyr868Ter)
c.2577C>G (p.Tyr859Ter)
c.2523C>G (p.Tyr841Ter)
c.2496C>G (p.Tyr832Ter)
c.2481C>G (p.Tyr827Ter)
c.2088C>G (p.Tyr696Ter)
c.2550C>G (p.Tyr850Ter)
c.2487C>G (p.Tyr829Ter)
c.2484C>G (p.Tyr828Ter)
c.2442C>G (p.Tyr814Ter)
c.1515C>G (p.Tyr505Ter)
20g.63406764G=CA2374774235KCNQ2c.2553C= (p.Tyr851=)
c.2499C= (p.Tyr833=)
c.1896C= (p.Tyr632=)
c.2406C= (p.Tyr802=)
c.2067C= (p.Tyr689=)
c.2415C= (p.Tyr805=)
c.2241+282C= (n.2241+282C=)
c.2205+282C= (n.2205+282C=)
c.2445C= (p.Tyr815=)
c.2133+282C= (n.2133+282C=)
c.1680-5921C= (n.1680-5921C=)
c.2541C= (p.Tyr847=)
c.2607C= (p.Tyr869=)
c.2604C= (p.Tyr868=)
c.2577C= (p.Tyr859=)
c.2523C= (p.Tyr841=)
c.2496C= (p.Tyr832=)
c.2481C= (p.Tyr827=)
c.2088C= (p.Tyr696=)
c.2550C= (p.Tyr850=)
c.2487C= (p.Tyr829=)
c.2484C= (p.Tyr828=)
c.2442C= (p.Tyr814=)
c.1515C= (p.Tyr505=)
20g.63406764G>TCA409636816KCNQ2c.2553C>A (p.Tyr851Ter)
c.2499C>A (p.Tyr833Ter)
c.1896C>A (p.Tyr632Ter)
c.2406C>A (p.Tyr802Ter)
c.2067C>A (p.Tyr689Ter)
c.2415C>A (p.Tyr805Ter)
c.2241+282C>A (n.2241+282C>A)
c.2205+282C>A (n.2205+282C>A)
c.2445C>A (p.Tyr815Ter)
c.2133+282C>A (n.2133+282C>A)
c.1680-5921C>A (n.1680-5921C>A)
c.2541C>A (p.Tyr847Ter)
c.2607C>A (p.Tyr869Ter)
c.2604C>A (p.Tyr868Ter)
c.2577C>A (p.Tyr859Ter)
c.2523C>A (p.Tyr841Ter)
c.2496C>A (p.Tyr832Ter)
c.2481C>A (p.Tyr827Ter)
c.2088C>A (p.Tyr696Ter)
c.2550C>A (p.Tyr850Ter)
c.2487C>A (p.Tyr829Ter)
c.2484C>A (p.Tyr828Ter)
c.2442C>A (p.Tyr814Ter)
c.1515C>A (p.Tyr505Ter)
20g.63406765T>ACA409636822KCNQ2c.2552A>T (p.Tyr851Phe)
c.2498A>T (p.Tyr833Phe)
c.1895A>T (p.Tyr632Phe)
c.2405A>T (p.Tyr802Phe)
c.2066A>T (p.Tyr689Phe)
c.2414A>T (p.Tyr805Phe)
c.2241+281A>T (n.2241+281A>T)
c.2205+281A>T (n.2205+281A>T)
c.2444A>T (p.Tyr815Phe)
c.2133+281A>T (n.2133+281A>T)
c.1680-5922A>T (n.1680-5922A>T)
c.2540A>T (p.Tyr847Phe)
c.2606A>T (p.Tyr869Phe)
c.2603A>T (p.Tyr868Phe)
c.2576A>T (p.Tyr859Phe)
c.2522A>T (p.Tyr841Phe)
c.2495A>T (p.Tyr832Phe)
c.2480A>T (p.Tyr827Phe)
c.2087A>T (p.Tyr696Phe)
c.2549A>T (p.Tyr850Phe)
c.2486A>T (p.Tyr829Phe)
c.2483A>T (p.Tyr828Phe)
c.2441A>T (p.Tyr814Phe)
c.1514A>T (p.Tyr505Phe)
20g.63406765T>CCA409636820KCNQ2c.2552A>G (p.Tyr851Cys)
c.2498A>G (p.Tyr833Cys)
c.1895A>G (p.Tyr632Cys)
c.2405A>G (p.Tyr802Cys)
c.2066A>G (p.Tyr689Cys)
c.2414A>G (p.Tyr805Cys)
c.2241+281A>G (n.2241+281A>G)
c.2205+281A>G (n.2205+281A>G)
c.2444A>G (p.Tyr815Cys)
c.2133+281A>G (n.2133+281A>G)
c.1680-5922A>G (n.1680-5922A>G)
c.2540A>G (p.Tyr847Cys)
c.2606A>G (p.Tyr869Cys)
c.2603A>G (p.Tyr868Cys)
c.2576A>G (p.Tyr859Cys)
c.2522A>G (p.Tyr841Cys)
c.2495A>G (p.Tyr832Cys)
c.2480A>G (p.Tyr827Cys)
c.2087A>G (p.Tyr696Cys)
c.2549A>G (p.Tyr850Cys)
c.2486A>G (p.Tyr829Cys)
c.2483A>G (p.Tyr828Cys)
c.2441A>G (p.Tyr814Cys)
c.1514A>G (p.Tyr505Cys)
20g.63406765T>GCA409636818KCNQ2c.2552A>C (p.Tyr851Ser)
c.2498A>C (p.Tyr833Ser)
c.1895A>C (p.Tyr632Ser)
c.2405A>C (p.Tyr802Ser)
c.2066A>C (p.Tyr689Ser)
c.2414A>C (p.Tyr805Ser)
c.2241+281A>C (n.2241+281A>C)
c.2205+281A>C (n.2205+281A>C)
c.2444A>C (p.Tyr815Ser)
c.2133+281A>C (n.2133+281A>C)
c.1680-5922A>C (n.1680-5922A>C)
c.2540A>C (p.Tyr847Ser)
c.2606A>C (p.Tyr869Ser)
c.2603A>C (p.Tyr868Ser)
c.2576A>C (p.Tyr859Ser)
c.2522A>C (p.Tyr841Ser)
c.2495A>C (p.Tyr832Ser)
c.2480A>C (p.Tyr827Ser)
c.2087A>C (p.Tyr696Ser)
c.2549A>C (p.Tyr850Ser)
c.2486A>C (p.Tyr829Ser)
c.2483A>C (p.Tyr828Ser)
c.2441A>C (p.Tyr814Ser)
c.1514A>C (p.Tyr505Ser)
20g.63406766A=CA2374774236KCNQ2c.2551T= (p.Tyr851=)
c.2497T= (p.Tyr833=)
c.1894T= (p.Tyr632=)
c.2404T= (p.Tyr802=)
c.2065T= (p.Tyr689=)
c.2413T= (p.Tyr805=)
c.2241+280T= (n.2241+280T=)
c.2205+280T= (n.2205+280T=)
c.2443T= (p.Tyr815=)
c.2133+280T= (n.2133+280T=)
c.1680-5923T= (n.1680-5923T=)
c.2539T= (p.Tyr847=)
c.2605T= (p.Tyr869=)
c.2602T= (p.Tyr868=)
c.2575T= (p.Tyr859=)
c.2521T= (p.Tyr841=)
c.2494T= (p.Tyr832=)
c.2479T= (p.Tyr827=)
c.2086T= (p.Tyr696=)
c.2548T= (p.Tyr850=)
c.2485T= (p.Tyr829=)
c.2482T= (p.Tyr828=)
c.2440T= (p.Tyr814=)
c.1513T= (p.Tyr505=)
20g.63406766A>CCA409636824KCNQ2c.2551T>G (p.Tyr851Asp)
c.2497T>G (p.Tyr833Asp)
c.1894T>G (p.Tyr632Asp)
c.2404T>G (p.Tyr802Asp)
c.2065T>G (p.Tyr689Asp)
c.2413T>G (p.Tyr805Asp)
c.2241+280T>G (n.2241+280T>G)
c.2205+280T>G (n.2205+280T>G)
c.2443T>G (p.Tyr815Asp)
c.2133+280T>G (n.2133+280T>G)
c.1680-5923T>G (n.1680-5923T>G)
c.2539T>G (p.Tyr847Asp)
c.2605T>G (p.Tyr869Asp)
c.2602T>G (p.Tyr868Asp)
c.2575T>G (p.Tyr859Asp)
c.2521T>G (p.Tyr841Asp)
c.2494T>G (p.Tyr832Asp)
c.2479T>G (p.Tyr827Asp)
c.2086T>G (p.Tyr696Asp)
c.2548T>G (p.Tyr850Asp)
c.2485T>G (p.Tyr829Asp)
c.2482T>G (p.Tyr828Asp)
c.2440T>G (p.Tyr814Asp)
c.1513T>G (p.Tyr505Asp)
20g.63406766A>GCA409636826KCNQ2c.2551T>C (p.Tyr851His)
c.2497T>C (p.Tyr833His)
c.1894T>C (p.Tyr632His)
c.2404T>C (p.Tyr802His)
c.2065T>C (p.Tyr689His)
c.2413T>C (p.Tyr805His)
c.2241+280T>C (n.2241+280T>C)
c.2205+280T>C (n.2205+280T>C)
c.2443T>C (p.Tyr815His)
c.2133+280T>C (n.2133+280T>C)
c.1680-5923T>C (n.1680-5923T>C)
c.2539T>C (p.Tyr847His)
c.2605T>C (p.Tyr869His)
c.2602T>C (p.Tyr868His)
c.2575T>C (p.Tyr859His)
c.2521T>C (p.Tyr841His)
c.2494T>C (p.Tyr832His)
c.2479T>C (p.Tyr827His)
c.2086T>C (p.Tyr696His)
c.2548T>C (p.Tyr850His)
c.2485T>C (p.Tyr829His)
c.2482T>C (p.Tyr828His)
c.2440T>C (p.Tyr814His)
c.1513T>C (p.Tyr505His)
 dbSNP gnomAD v4
20g.63406766A>TCA409636828KCNQ2c.2551T>A (p.Tyr851Asn)
c.2497T>A (p.Tyr833Asn)
c.1894T>A (p.Tyr632Asn)
c.2404T>A (p.Tyr802Asn)
c.2065T>A (p.Tyr689Asn)
c.2413T>A (p.Tyr805Asn)
c.2241+280T>A (n.2241+280T>A)
c.2205+280T>A (n.2205+280T>A)
c.2443T>A (p.Tyr815Asn)
c.2133+280T>A (n.2133+280T>A)
c.1680-5923T>A (n.1680-5923T>A)
c.2539T>A (p.Tyr847Asn)
c.2605T>A (p.Tyr869Asn)
c.2602T>A (p.Tyr868Asn)
c.2575T>A (p.Tyr859Asn)
c.2521T>A (p.Tyr841Asn)
c.2494T>A (p.Tyr832Asn)
c.2479T>A (p.Tyr827Asn)
c.2086T>A (p.Tyr696Asn)
c.2548T>A (p.Tyr850Asn)
c.2485T>A (p.Tyr829Asn)
c.2482T>A (p.Tyr828Asn)
c.2440T>A (p.Tyr814Asn)
c.1513T>A (p.Tyr505Asn)
20g.63406767G>ACA511339253KCNQ2c.2550C>T (p.Pro850=)
c.2496C>T (p.Pro832=)
c.1893C>T (p.Pro631=)
c.2403C>T (p.Pro801=)
c.2064C>T (p.Pro688=)
c.2412C>T (p.Pro804=)
c.2241+279C>T (n.2241+279C>T)
c.2205+279C>T (n.2205+279C>T)
c.2442C>T (p.Pro814=)
c.2133+279C>T (n.2133+279C>T)
c.1680-5924C>T (n.1680-5924C>T)
c.2538C>T (p.Pro846=)
c.2604C>T (p.Pro868=)
c.2601C>T (p.Pro867=)
c.2574C>T (p.Pro858=)
c.2520C>T (p.Pro840=)
c.2493C>T (p.Pro831=)
c.2478C>T (p.Pro826=)
c.2085C>T (p.Pro695=)
c.2547C>T (p.Pro849=)
c.2484C>T (p.Pro828=)
c.2481C>T (p.Pro827=)
c.2439C>T (p.Pro813=)
c.1512C>T (p.Pro504=)
 dbSNP gnomAD v2
20g.63406767G>CCA511339254KCNQ2c.2550C>G (p.Pro850=)
c.2496C>G (p.Pro832=)
c.1893C>G (p.Pro631=)
c.2403C>G (p.Pro801=)
c.2064C>G (p.Pro688=)
c.2412C>G (p.Pro804=)
c.2241+279C>G (n.2241+279C>G)
c.2205+279C>G (n.2205+279C>G)
c.2442C>G (p.Pro814=)
c.2133+279C>G (n.2133+279C>G)
c.1680-5924C>G (n.1680-5924C>G)
c.2538C>G (p.Pro846=)
c.2604C>G (p.Pro868=)
c.2601C>G (p.Pro867=)
c.2574C>G (p.Pro858=)
c.2520C>G (p.Pro840=)
c.2493C>G (p.Pro831=)
c.2478C>G (p.Pro826=)
c.2085C>G (p.Pro695=)
c.2547C>G (p.Pro849=)
c.2484C>G (p.Pro828=)
c.2481C>G (p.Pro827=)
c.2439C>G (p.Pro813=)
c.1512C>G (p.Pro504=)
 COSMIC COSMIC COSMIC
20g.63406767G=CA2374774237KCNQ2c.2550C= (p.Pro850=)
c.2496C= (p.Pro832=)
c.1893C= (p.Pro631=)
c.2403C= (p.Pro801=)
c.2064C= (p.Pro688=)
c.2412C= (p.Pro804=)
c.2241+279C= (n.2241+279C=)
c.2205+279C= (n.2205+279C=)
c.2442C= (p.Pro814=)
c.2133+279C= (n.2133+279C=)
c.1680-5924C= (n.1680-5924C=)
c.2538C= (p.Pro846=)
c.2604C= (p.Pro868=)
c.2601C= (p.Pro867=)
c.2574C= (p.Pro858=)
c.2520C= (p.Pro840=)
c.2493C= (p.Pro831=)
c.2478C= (p.Pro826=)
c.2085C= (p.Pro695=)
c.2547C= (p.Pro849=)
c.2484C= (p.Pro828=)
c.2481C= (p.Pro827=)
c.2439C= (p.Pro813=)
c.1512C= (p.Pro504=)
20g.63406767G>TCA511339256KCNQ2c.2550C>A (p.Pro850=)
c.2496C>A (p.Pro832=)
c.1893C>A (p.Pro631=)
c.2403C>A (p.Pro801=)
c.2064C>A (p.Pro688=)
c.2412C>A (p.Pro804=)
c.2241+279C>A (n.2241+279C>A)
c.2205+279C>A (n.2205+279C>A)
c.2442C>A (p.Pro814=)
c.2133+279C>A (n.2133+279C>A)
c.1680-5924C>A (n.1680-5924C>A)
c.2538C>A (p.Pro846=)
c.2604C>A (p.Pro868=)
c.2601C>A (p.Pro867=)
c.2574C>A (p.Pro858=)
c.2520C>A (p.Pro840=)
c.2493C>A (p.Pro831=)
c.2478C>A (p.Pro826=)
c.2085C>A (p.Pro695=)
c.2547C>A (p.Pro849=)
c.2484C>A (p.Pro828=)
c.2481C>A (p.Pro827=)
c.2439C>A (p.Pro813=)
c.1512C>A (p.Pro504=)
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)
20g.63406776T>CCA511339269KCNQ2c.2541A>G (p.Lys847=)
c.2487A>G (p.Lys829=)
c.1884A>G (p.Lys628=)
c.2394A>G (p.Lys798=)
c.2055A>G (p.Lys685=)
c.2403A>G (p.Lys801=)
c.2241+270A>G (n.2241+270A>G)
c.2205+270A>G (n.2205+270A>G)
c.2433A>G (p.Lys811=)
c.2133+270A>G (n.2133+270A>G)
c.1680-5933A>G (n.1680-5933A>G)
c.2529A>G (p.Lys843=)
c.2595A>G (p.Lys865=)
c.2592A>G (p.Lys864=)
c.2565A>G (p.Lys855=)
c.2511A>G (p.Lys837=)
c.2484A>G (p.Lys828=)
c.2469A>G (p.Lys823=)
c.2076A>G (p.Lys692=)
c.2538A>G (p.Lys846=)
c.2475A>G (p.Lys825=)
c.2472A>G (p.Lys824=)
c.2430A>G (p.Lys810=)
c.1503A>G (p.Lys501=)
20g.63406776T>GCA409636871KCNQ2c.2541A>C (p.Lys847Asn)
c.2487A>C (p.Lys829Asn)
c.1884A>C (p.Lys628Asn)
c.2394A>C (p.Lys798Asn)
c.2055A>C (p.Lys685Asn)
c.2403A>C (p.Lys801Asn)
c.2241+270A>C (n.2241+270A>C)
c.2205+270A>C (n.2205+270A>C)
c.2433A>C (p.Lys811Asn)
c.2133+270A>C (n.2133+270A>C)
c.1680-5933A>C (n.1680-5933A>C)
c.2529A>C (p.Lys843Asn)
c.2595A>C (p.Lys865Asn)
c.2592A>C (p.Lys864Asn)
c.2565A>C (p.Lys855Asn)
c.2511A>C (p.Lys837Asn)
c.2484A>C (p.Lys828Asn)
c.2469A>C (p.Lys823Asn)
c.2076A>C (p.Lys692Asn)
c.2538A>C (p.Lys846Asn)
c.2475A>C (p.Lys825Asn)
c.2472A>C (p.Lys824Asn)
c.2430A>C (p.Lys810Asn)
c.1503A>C (p.Lys501Asn)
20g.63406778dupCA658768791KCNQ2c.2541dup (p.Val848SerfsTer?)
c.2487dup (p.Val830SerfsTer?)
c.1884dup (p.Val629SerfsTer?)
c.2394dup (p.Val799SerfsTer?)
c.2055dup (p.Val686SerfsTer?)
c.2403dup (p.Val802SerfsTer?)
c.2241+270dup (n.2241+270dup)
c.2205+270dup (n.2205+270dup)
c.2433dup (p.Val812SerfsTer?)
c.2133+270dup (n.2133+270dup)
c.1680-5933dup (n.1680-5933dup)
c.2529dup (p.Val844SerfsTer?)
c.2595dup (p.Val866SerfsTer?)
c.2592dup (p.Val865SerfsTer?)
c.2565dup (p.Val856SerfsTer?)
c.2511dup (p.Val838SerfsTer?)
c.2484dup (p.Val829SerfsTer?)
c.2469dup (p.Val824SerfsTer?)
c.2076dup (p.Val693SerfsTer?)
c.2538dup (p.Val847SerfsTer?)
c.2475dup (p.Val826SerfsTer?)
c.2472dup (p.Val825SerfsTer?)
c.2430dup (p.Val811SerfsTer?)
c.1503dup (p.Val502SerfsTer?)
20g.63406777_63406778delCA916083758KCNQ2c.2540_2541del (p.Lys847SerfsTer?)
c.2486_2487del (p.Lys829SerfsTer?)
c.1883_1884del (p.Lys628SerfsTer?)
c.2393_2394del (p.Lys798SerfsTer?)
c.2054_2055del (p.Lys685SerfsTer?)
c.2402_2403del (p.Lys801SerfsTer?)
c.2241+269_2241+270del (n.2241+269_2241+270del)
c.2205+269_2205+270del (n.2205+269_2205+270del)
c.2432_2433del (p.Lys811SerfsTer?)
c.2133+269_2133+270del (n.2133+269_2133+270del)
c.1680-5934_1680-5933del (n.1680-5934_1680-5933del)
c.2528_2529del (p.Lys843SerfsTer?)
c.2594_2595del (p.Lys865SerfsTer?)
c.2591_2592del (p.Lys864SerfsTer?)
c.2564_2565del (p.Lys855SerfsTer?)
c.2510_2511del (p.Lys837SerfsTer?)
c.2483_2484del (p.Lys828SerfsTer?)
c.2468_2469del (p.Lys823SerfsTer?)
c.2075_2076del (p.Lys692SerfsTer?)
c.2537_2538del (p.Lys846SerfsTer?)
c.2474_2475del (p.Lys825SerfsTer?)
c.2471_2472del (p.Lys824SerfsTer?)
c.2429_2430del (p.Lys810SerfsTer?)
c.1502_1503del (p.Lys501SerfsTer?)
 ClinVar dbSNP
20g.63406777T>ACA409636873KCNQ2c.2540A>T (p.Lys847Ile)
c.2486A>T (p.Lys829Ile)
c.1883A>T (p.Lys628Ile)
c.2393A>T (p.Lys798Ile)
c.2054A>T (p.Lys685Ile)
c.2402A>T (p.Lys801Ile)
c.2241+269A>T (n.2241+269A>T)
c.2205+269A>T (n.2205+269A>T)
c.2432A>T (p.Lys811Ile)
c.2133+269A>T (n.2133+269A>T)
c.1680-5934A>T (n.1680-5934A>T)
c.2528A>T (p.Lys843Ile)
c.2594A>T (p.Lys865Ile)
c.2591A>T (p.Lys864Ile)
c.2564A>T (p.Lys855Ile)
c.2510A>T (p.Lys837Ile)
c.2483A>T (p.Lys828Ile)
c.2468A>T (p.Lys823Ile)
c.2075A>T (p.Lys692Ile)
c.2537A>T (p.Lys846Ile)
c.2474A>T (p.Lys825Ile)
c.2471A>T (p.Lys824Ile)
c.2429A>T (p.Lys810Ile)
c.1502A>T (p.Lys501Ile)
20g.63406777T>CCA409636875KCNQ2c.2540A>G (p.Lys847Arg)
c.2486A>G (p.Lys829Arg)
c.1883A>G (p.Lys628Arg)
c.2393A>G (p.Lys798Arg)
c.2054A>G (p.Lys685Arg)
c.2402A>G (p.Lys801Arg)
c.2241+269A>G (n.2241+269A>G)
c.2205+269A>G (n.2205+269A>G)
c.2432A>G (p.Lys811Arg)
c.2133+269A>G (n.2133+269A>G)
c.1680-5934A>G (n.1680-5934A>G)
c.2528A>G (p.Lys843Arg)
c.2594A>G (p.Lys865Arg)
c.2591A>G (p.Lys864Arg)
c.2564A>G (p.Lys855Arg)
c.2510A>G (p.Lys837Arg)
c.2483A>G (p.Lys828Arg)
c.2468A>G (p.Lys823Arg)
c.2075A>G (p.Lys692Arg)
c.2537A>G (p.Lys846Arg)
c.2474A>G (p.Lys825Arg)
c.2471A>G (p.Lys824Arg)
c.2429A>G (p.Lys810Arg)
c.1502A>G (p.Lys501Arg)
20g.63406777T>GCA409636876KCNQ2c.2540A>C (p.Lys847Thr)
c.2486A>C (p.Lys829Thr)
c.1883A>C (p.Lys628Thr)
c.2393A>C (p.Lys798Thr)
c.2054A>C (p.Lys685Thr)
c.2402A>C (p.Lys801Thr)
c.2241+269A>C (n.2241+269A>C)
c.2205+269A>C (n.2205+269A>C)
c.2432A>C (p.Lys811Thr)
c.2133+269A>C (n.2133+269A>C)
c.1680-5934A>C (n.1680-5934A>C)
c.2528A>C (p.Lys843Thr)
c.2594A>C (p.Lys865Thr)
c.2591A>C (p.Lys864Thr)
c.2564A>C (p.Lys855Thr)
c.2510A>C (p.Lys837Thr)
c.2483A>C (p.Lys828Thr)
c.2468A>C (p.Lys823Thr)
c.2075A>C (p.Lys692Thr)
c.2537A>C (p.Lys846Thr)
c.2474A>C (p.Lys825Thr)
c.2471A>C (p.Lys824Thr)
c.2429A>C (p.Lys810Thr)
c.1502A>C (p.Lys501Thr)
 gnomAD v4
20g.63406778T>ACA409636882KCNQ2c.2539A>T (p.Lys847Ter)
c.2485A>T (p.Lys829Ter)
c.1882A>T (p.Lys628Ter)
c.2392A>T (p.Lys798Ter)
c.2053A>T (p.Lys685Ter)
c.2401A>T (p.Lys801Ter)
c.2241+268A>T (n.2241+268A>T)
c.2205+268A>T (n.2205+268A>T)
c.2431A>T (p.Lys811Ter)
c.2133+268A>T (n.2133+268A>T)
c.1680-5935A>T (n.1680-5935A>T)
c.2527A>T (p.Lys843Ter)
c.2593A>T (p.Lys865Ter)
c.2590A>T (p.Lys864Ter)
c.2563A>T (p.Lys855Ter)
c.2509A>T (p.Lys837Ter)
c.2482A>T (p.Lys828Ter)
c.2467A>T (p.Lys823Ter)
c.2074A>T (p.Lys692Ter)
c.2536A>T (p.Lys846Ter)
c.2473A>T (p.Lys825Ter)
c.2470A>T (p.Lys824Ter)
c.2428A>T (p.Lys810Ter)
c.1501A>T (p.Lys501Ter)
20g.63406778T>CCA409636880KCNQ2c.2539A>G (p.Lys847Glu)
c.2485A>G (p.Lys829Glu)
c.1882A>G (p.Lys628Glu)
c.2392A>G (p.Lys798Glu)
c.2053A>G (p.Lys685Glu)
c.2401A>G (p.Lys801Glu)
c.2241+268A>G (n.2241+268A>G)
c.2205+268A>G (n.2205+268A>G)
c.2431A>G (p.Lys811Glu)
c.2133+268A>G (n.2133+268A>G)
c.1680-5935A>G (n.1680-5935A>G)
c.2527A>G (p.Lys843Glu)
c.2593A>G (p.Lys865Glu)
c.2590A>G (p.Lys864Glu)
c.2563A>G (p.Lys855Glu)
c.2509A>G (p.Lys837Glu)
c.2482A>G (p.Lys828Glu)
c.2467A>G (p.Lys823Glu)
c.2074A>G (p.Lys692Glu)
c.2536A>G (p.Lys846Glu)
c.2473A>G (p.Lys825Glu)
c.2470A>G (p.Lys824Glu)
c.2428A>G (p.Lys810Glu)
c.1501A>G (p.Lys501Glu)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63406778T>GCA409636878KCNQ2c.2539A>C (p.Lys847Gln)
c.2485A>C (p.Lys829Gln)
c.1882A>C (p.Lys628Gln)
c.2392A>C (p.Lys798Gln)
c.2053A>C (p.Lys685Gln)
c.2401A>C (p.Lys801Gln)
c.2241+268A>C (n.2241+268A>C)
c.2205+268A>C (n.2205+268A>C)
c.2431A>C (p.Lys811Gln)
c.2133+268A>C (n.2133+268A>C)
c.1680-5935A>C (n.1680-5935A>C)
c.2527A>C (p.Lys843Gln)
c.2593A>C (p.Lys865Gln)
c.2590A>C (p.Lys864Gln)
c.2563A>C (p.Lys855Gln)
c.2509A>C (p.Lys837Gln)
c.2482A>C (p.Lys828Gln)
c.2467A>C (p.Lys823Gln)
c.2074A>C (p.Lys692Gln)
c.2536A>C (p.Lys846Gln)
c.2473A>C (p.Lys825Gln)
c.2470A>C (p.Lys824Gln)
c.2428A>C (p.Lys810Gln)
c.1501A>C (p.Lys501Gln)
20g.63406778T=CA2374774243KCNQ2c.2539A= (p.Lys847=)
c.2485A= (p.Lys829=)
c.1882A= (p.Lys628=)
c.2392A= (p.Lys798=)
c.2053A= (p.Lys685=)
c.2401A= (p.Lys801=)
c.2241+268A= (n.2241+268A=)
c.2205+268A= (n.2205+268A=)
c.2431A= (p.Lys811=)
c.2133+268A= (n.2133+268A=)
c.1680-5935A= (n.1680-5935A=)
c.2527A= (p.Lys843=)
c.2593A= (p.Lys865=)
c.2590A= (p.Lys864=)
c.2563A= (p.Lys855=)
c.2509A= (p.Lys837=)
c.2482A= (p.Lys828=)
c.2467A= (p.Lys823=)
c.2074A= (p.Lys692=)
c.2536A= (p.Lys846=)
c.2473A= (p.Lys825=)
c.2470A= (p.Lys824=)
c.2428A= (p.Lys810=)
c.1501A= (p.Lys501=)
20g.63406779G>ACA511339274KCNQ2c.2538C>T (p.Ala846=)
c.2484C>T (p.Ala828=)
c.1881C>T (p.Ala627=)
c.2391C>T (p.Ala797=)
c.2052C>T (p.Ala684=)
c.2400C>T (p.Ala800=)
c.2241+267C>T (n.2241+267C>T)
c.2205+267C>T (n.2205+267C>T)
c.2430C>T (p.Ala810=)
c.2133+267C>T (n.2133+267C>T)
c.1680-5936C>T (n.1680-5936C>T)
c.2526C>T (p.Ala842=)
c.2592C>T (p.Ala864=)
c.2589C>T (p.Ala863=)
c.2562C>T (p.Ala854=)
c.2508C>T (p.Ala836=)
c.2481C>T (p.Ala827=)
c.2466C>T (p.Ala822=)
c.2073C>T (p.Ala691=)
c.2535C>T (p.Ala845=)
c.2472C>T (p.Ala824=)
c.2469C>T (p.Ala823=)
c.2427C>T (p.Ala809=)
c.1500C>T (p.Ala500=)
20g.63406779G>CCA317421654KCNQ2c.2538C>G (p.Ala846=)
c.2484C>G (p.Ala828=)
c.1881C>G (p.Ala627=)
c.2391C>G (p.Ala797=)
c.2052C>G (p.Ala684=)
c.2400C>G (p.Ala800=)
c.2241+267C>G (n.2241+267C>G)
c.2205+267C>G (n.2205+267C>G)
c.2430C>G (p.Ala810=)
c.2133+267C>G (n.2133+267C>G)
c.1680-5936C>G (n.1680-5936C>G)
c.2526C>G (p.Ala842=)
c.2592C>G (p.Ala864=)
c.2589C>G (p.Ala863=)
c.2562C>G (p.Ala854=)
c.2508C>G (p.Ala836=)
c.2481C>G (p.Ala827=)
c.2466C>G (p.Ala822=)
c.2073C>G (p.Ala691=)
c.2535C>G (p.Ala845=)
c.2472C>G (p.Ala824=)
c.2469C>G (p.Ala823=)
c.2427C>G (p.Ala809=)
c.1500C>G (p.Ala500=)
 dbSNP gnomAD v4
20g.63406779G=CA2374774244KCNQ2c.2538C= (p.Ala846=)
c.2484C= (p.Ala828=)
c.1881C= (p.Ala627=)
c.2391C= (p.Ala797=)
c.2052C= (p.Ala684=)
c.2400C= (p.Ala800=)
c.2241+267C= (n.2241+267C=)
c.2205+267C= (n.2205+267C=)
c.2430C= (p.Ala810=)
c.2133+267C= (n.2133+267C=)
c.1680-5936C= (n.1680-5936C=)
c.2526C= (p.Ala842=)
c.2592C= (p.Ala864=)
c.2589C= (p.Ala863=)
c.2562C= (p.Ala854=)
c.2508C= (p.Ala836=)
c.2481C= (p.Ala827=)
c.2466C= (p.Ala822=)
c.2073C= (p.Ala691=)
c.2535C= (p.Ala845=)
c.2472C= (p.Ala824=)
c.2469C= (p.Ala823=)
c.2427C= (p.Ala809=)
c.1500C= (p.Ala500=)
20g.63406779G>TCA511339277KCNQ2c.2538C>A (p.Ala846=)
c.2484C>A (p.Ala828=)
c.1881C>A (p.Ala627=)
c.2391C>A (p.Ala797=)
c.2052C>A (p.Ala684=)
c.2400C>A (p.Ala800=)
c.2241+267C>A (n.2241+267C>A)
c.2205+267C>A (n.2205+267C>A)
c.2430C>A (p.Ala810=)
c.2133+267C>A (n.2133+267C>A)
c.1680-5936C>A (n.1680-5936C>A)
c.2526C>A (p.Ala842=)
c.2592C>A (p.Ala864=)
c.2589C>A (p.Ala863=)
c.2562C>A (p.Ala854=)
c.2508C>A (p.Ala836=)
c.2481C>A (p.Ala827=)
c.2466C>A (p.Ala822=)
c.2073C>A (p.Ala691=)
c.2535C>A (p.Ala845=)
c.2472C>A (p.Ala824=)
c.2469C>A (p.Ala823=)
c.2427C>A (p.Ala809=)
c.1500C>A (p.Ala500=)
20g.63406780G>ACA409636884KCNQ2c.2537C>T (p.Ala846Val)
c.2483C>T (p.Ala828Val)
c.1880C>T (p.Ala627Val)
c.2390C>T (p.Ala797Val)
c.2051C>T (p.Ala684Val)
c.2399C>T (p.Ala800Val)
c.2241+266C>T (n.2241+266C>T)
c.2205+266C>T (n.2205+266C>T)
c.2429C>T (p.Ala810Val)
c.2133+266C>T (n.2133+266C>T)
c.1680-5937C>T (n.1680-5937C>T)
c.2525C>T (p.Ala842Val)
c.2591C>T (p.Ala864Val)
c.2588C>T (p.Ala863Val)
c.2561C>T (p.Ala854Val)
c.2507C>T (p.Ala836Val)
c.2480C>T (p.Ala827Val)
c.2465C>T (p.Ala822Val)
c.2072C>T (p.Ala691Val)
c.2534C>T (p.Ala845Val)
c.2471C>T (p.Ala824Val)
c.2468C>T (p.Ala823Val)
c.2426C>T (p.Ala809Val)
c.1499C>T (p.Ala500Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63406780G>CCA409636887KCNQ2c.2537C>G (p.Ala846Gly)
c.2483C>G (p.Ala828Gly)
c.1880C>G (p.Ala627Gly)
c.2390C>G (p.Ala797Gly)
c.2051C>G (p.Ala684Gly)
c.2399C>G (p.Ala800Gly)
c.2241+266C>G (n.2241+266C>G)
c.2205+266C>G (n.2205+266C>G)
c.2429C>G (p.Ala810Gly)
c.2133+266C>G (n.2133+266C>G)
c.1680-5937C>G (n.1680-5937C>G)
c.2525C>G (p.Ala842Gly)
c.2591C>G (p.Ala864Gly)
c.2588C>G (p.Ala863Gly)
c.2561C>G (p.Ala854Gly)
c.2507C>G (p.Ala836Gly)
c.2480C>G (p.Ala827Gly)
c.2465C>G (p.Ala822Gly)
c.2072C>G (p.Ala691Gly)
c.2534C>G (p.Ala845Gly)
c.2471C>G (p.Ala824Gly)
c.2468C>G (p.Ala823Gly)
c.2426C>G (p.Ala809Gly)
c.1499C>G (p.Ala500Gly)
20g.63406780G=CA2374774245KCNQ2c.2537C= (p.Ala846=)
c.2483C= (p.Ala828=)
c.1880C= (p.Ala627=)
c.2390C= (p.Ala797=)
c.2051C= (p.Ala684=)
c.2399C= (p.Ala800=)
c.2241+266C= (n.2241+266C=)
c.2205+266C= (n.2205+266C=)
c.2429C= (p.Ala810=)
c.2133+266C= (n.2133+266C=)
c.1680-5937C= (n.1680-5937C=)
c.2525C= (p.Ala842=)
c.2591C= (p.Ala864=)
c.2588C= (p.Ala863=)
c.2561C= (p.Ala854=)
c.2507C= (p.Ala836=)
c.2480C= (p.Ala827=)
c.2465C= (p.Ala822=)
c.2072C= (p.Ala691=)
c.2534C= (p.Ala845=)
c.2471C= (p.Ala824=)
c.2468C= (p.Ala823=)
c.2426C= (p.Ala809=)
c.1499C= (p.Ala500=)
20g.63406780G>TCA409636886KCNQ2c.2537C>A (p.Ala846Asp)
c.2483C>A (p.Ala828Asp)
c.1880C>A (p.Ala627Asp)
c.2390C>A (p.Ala797Asp)
c.2051C>A (p.Ala684Asp)
c.2399C>A (p.Ala800Asp)
c.2241+266C>A (n.2241+266C>A)
c.2205+266C>A (n.2205+266C>A)
c.2429C>A (p.Ala810Asp)
c.2133+266C>A (n.2133+266C>A)
c.1680-5937C>A (n.1680-5937C>A)
c.2525C>A (p.Ala842Asp)
c.2591C>A (p.Ala864Asp)
c.2588C>A (p.Ala863Asp)
c.2561C>A (p.Ala854Asp)
c.2507C>A (p.Ala836Asp)
c.2480C>A (p.Ala827Asp)
c.2465C>A (p.Ala822Asp)
c.2072C>A (p.Ala691Asp)
c.2534C>A (p.Ala845Asp)
c.2471C>A (p.Ala824Asp)
c.2468C>A (p.Ala823Asp)
c.2426C>A (p.Ala809Asp)
c.1499C>A (p.Ala500Asp)
20g.63406781C>ACA409636889KCNQ2c.2536G>T (p.Ala846Ser)
c.2482G>T (p.Ala828Ser)
c.1879G>T (p.Ala627Ser)
c.2389G>T (p.Ala797Ser)
c.2050G>T (p.Ala684Ser)
c.2398G>T (p.Ala800Ser)
c.2241+265G>T (n.2241+265G>T)
c.2205+265G>T (n.2205+265G>T)
c.2428G>T (p.Ala810Ser)
c.2133+265G>T (n.2133+265G>T)
c.1680-5938G>T (n.1680-5938G>T)
c.2524G>T (p.Ala842Ser)
c.2590G>T (p.Ala864Ser)
c.2587G>T (p.Ala863Ser)
c.2560G>T (p.Ala854Ser)
c.2506G>T (p.Ala836Ser)
c.2479G>T (p.Ala827Ser)
c.2464G>T (p.Ala822Ser)
c.2071G>T (p.Ala691Ser)
c.2533G>T (p.Ala845Ser)
c.2470G>T (p.Ala824Ser)
c.2467G>T (p.Ala823Ser)
c.2425G>T (p.Ala809Ser)
c.1498G>T (p.Ala500Ser)
20g.63406781C>GCA409636890KCNQ2c.2536G>C (p.Ala846Pro)
c.2482G>C (p.Ala828Pro)
c.1879G>C (p.Ala627Pro)
c.2389G>C (p.Ala797Pro)
c.2050G>C (p.Ala684Pro)
c.2398G>C (p.Ala800Pro)
c.2241+265G>C (n.2241+265G>C)
c.2205+265G>C (n.2205+265G>C)
c.2428G>C (p.Ala810Pro)
c.2133+265G>C (n.2133+265G>C)
c.1680-5938G>C (n.1680-5938G>C)
c.2524G>C (p.Ala842Pro)
c.2590G>C (p.Ala864Pro)
c.2587G>C (p.Ala863Pro)
c.2560G>C (p.Ala854Pro)
c.2506G>C (p.Ala836Pro)
c.2479G>C (p.Ala827Pro)
c.2464G>C (p.Ala822Pro)
c.2071G>C (p.Ala691Pro)
c.2533G>C (p.Ala845Pro)
c.2470G>C (p.Ala824Pro)
c.2467G>C (p.Ala823Pro)
c.2425G>C (p.Ala809Pro)
c.1498G>C (p.Ala500Pro)
20g.63406781C>TCA409636892KCNQ2c.2536G>A (p.Ala846Thr)
c.2482G>A (p.Ala828Thr)
c.1879G>A (p.Ala627Thr)
c.2389G>A (p.Ala797Thr)
c.2050G>A (p.Ala684Thr)
c.2398G>A (p.Ala800Thr)
c.2241+265G>A (n.2241+265G>A)
c.2205+265G>A (n.2205+265G>A)
c.2428G>A (p.Ala810Thr)
c.2133+265G>A (n.2133+265G>A)
c.1680-5938G>A (n.1680-5938G>A)
c.2524G>A (p.Ala842Thr)
c.2590G>A (p.Ala864Thr)
c.2587G>A (p.Ala863Thr)
c.2560G>A (p.Ala854Thr)
c.2506G>A (p.Ala836Thr)
c.2479G>A (p.Ala827Thr)
c.2464G>A (p.Ala822Thr)
c.2071G>A (p.Ala691Thr)
c.2533G>A (p.Ala845Thr)
c.2470G>A (p.Ala824Thr)
c.2467G>A (p.Ala823Thr)
c.2425G>A (p.Ala809Thr)
c.1498G>A (p.Ala500Thr)
20g.63406782A=CA2374774246KCNQ2c.2535T= (p.Cys845=)
c.2481T= (p.Cys827=)
c.1878T= (p.Cys626=)
c.2388T= (p.Cys796=)
c.2049T= (p.Cys683=)
c.2397T= (p.Cys799=)
c.2241+264T= (n.2241+264T=)
c.2205+264T= (n.2205+264T=)
c.2427T= (p.Cys809=)
c.2133+264T= (n.2133+264T=)
c.1680-5939T= (n.1680-5939T=)
c.2523T= (p.Cys841=)
c.2589T= (p.Cys863=)
c.2586T= (p.Cys862=)
c.2559T= (p.Cys853=)
c.2505T= (p.Cys835=)
c.2478T= (p.Cys826=)
c.2463T= (p.Cys821=)
c.2070T= (p.Cys690=)
c.2532T= (p.Cys844=)
c.2469T= (p.Cys823=)
c.2466T= (p.Cys822=)
c.2424T= (p.Cys808=)
c.1497T= (p.Cys499=)
20g.63406782A>CCA409636895KCNQ2c.2535T>G (p.Cys845Trp)
c.2481T>G (p.Cys827Trp)
c.1878T>G (p.Cys626Trp)
c.2388T>G (p.Cys796Trp)
c.2049T>G (p.Cys683Trp)
c.2397T>G (p.Cys799Trp)
c.2241+264T>G (n.2241+264T>G)
c.2205+264T>G (n.2205+264T>G)
c.2427T>G (p.Cys809Trp)
c.2133+264T>G (n.2133+264T>G)
c.1680-5939T>G (n.1680-5939T>G)
c.2523T>G (p.Cys841Trp)
c.2589T>G (p.Cys863Trp)
c.2586T>G (p.Cys862Trp)
c.2559T>G (p.Cys853Trp)
c.2505T>G (p.Cys835Trp)
c.2478T>G (p.Cys826Trp)
c.2463T>G (p.Cys821Trp)
c.2070T>G (p.Cys690Trp)
c.2532T>G (p.Cys844Trp)
c.2469T>G (p.Cys823Trp)
c.2466T>G (p.Cys822Trp)
c.2424T>G (p.Cys808Trp)
c.1497T>G (p.Cys499Trp)
20g.63406782A>GCA9958069KCNQ2c.2535T>C (p.Cys845=)
c.2481T>C (p.Cys827=)
c.1878T>C (p.Cys626=)
c.2388T>C (p.Cys796=)
c.2049T>C (p.Cys683=)
c.2397T>C (p.Cys799=)
c.2241+264T>C (n.2241+264T>C)
c.2205+264T>C (n.2205+264T>C)
c.2427T>C (p.Cys809=)
c.2133+264T>C (n.2133+264T>C)
c.1680-5939T>C (n.1680-5939T>C)
c.2523T>C (p.Cys841=)
c.2589T>C (p.Cys863=)
c.2586T>C (p.Cys862=)
c.2559T>C (p.Cys853=)
c.2505T>C (p.Cys835=)
c.2478T>C (p.Cys826=)
c.2463T>C (p.Cys821=)
c.2070T>C (p.Cys690=)
c.2532T>C (p.Cys844=)
c.2469T>C (p.Cys823=)
c.2466T>C (p.Cys822=)
c.2424T>C (p.Cys808=)
c.1497T>C (p.Cys499=)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406782A>TCA409636896KCNQ2c.2535T>A (p.Cys845Ter)
c.2481T>A (p.Cys827Ter)
c.1878T>A (p.Cys626Ter)
c.2388T>A (p.Cys796Ter)
c.2049T>A (p.Cys683Ter)
c.2397T>A (p.Cys799Ter)
c.2241+264T>A (n.2241+264T>A)
c.2205+264T>A (n.2205+264T>A)
c.2427T>A (p.Cys809Ter)
c.2133+264T>A (n.2133+264T>A)
c.1680-5939T>A (n.1680-5939T>A)
c.2523T>A (p.Cys841Ter)
c.2589T>A (p.Cys863Ter)
c.2586T>A (p.Cys862Ter)
c.2559T>A (p.Cys853Ter)
c.2505T>A (p.Cys835Ter)
c.2478T>A (p.Cys826Ter)
c.2463T>A (p.Cys821Ter)
c.2070T>A (p.Cys690Ter)
c.2532T>A (p.Cys844Ter)
c.2469T>A (p.Cys823Ter)
c.2466T>A (p.Cys822Ter)
c.2424T>A (p.Cys808Ter)
c.1497T>A (p.Cys499Ter)
20g.63406783C>ACA409636899KCNQ2c.2534G>T (p.Cys845Phe)
c.2480G>T (p.Cys827Phe)
c.1877G>T (p.Cys626Phe)
c.2387G>T (p.Cys796Phe)
c.2048G>T (p.Cys683Phe)
c.2396G>T (p.Cys799Phe)
c.2241+263G>T (n.2241+263G>T)
c.2205+263G>T (n.2205+263G>T)
c.2426G>T (p.Cys809Phe)
c.2133+263G>T (n.2133+263G>T)
c.1680-5940G>T (n.1680-5940G>T)
c.2522G>T (p.Cys841Phe)
c.2588G>T (p.Cys863Phe)
c.2585G>T (p.Cys862Phe)
c.2558G>T (p.Cys853Phe)
c.2504G>T (p.Cys835Phe)
c.2477G>T (p.Cys826Phe)
c.2462G>T (p.Cys821Phe)
c.2069G>T (p.Cys690Phe)
c.2531G>T (p.Cys844Phe)
c.2468G>T (p.Cys823Phe)
c.2465G>T (p.Cys822Phe)
c.2423G>T (p.Cys808Phe)
c.1496G>T (p.Cys499Phe)
 ClinVar dbSNP
20g.63406783C>GCA409636900KCNQ2c.2534G>C (p.Cys845Ser)
c.2480G>C (p.Cys827Ser)
c.1877G>C (p.Cys626Ser)
c.2387G>C (p.Cys796Ser)
c.2048G>C (p.Cys683Ser)
c.2396G>C (p.Cys799Ser)
c.2241+263G>C (n.2241+263G>C)
c.2205+263G>C (n.2205+263G>C)
c.2426G>C (p.Cys809Ser)
c.2133+263G>C (n.2133+263G>C)
c.1680-5940G>C (n.1680-5940G>C)
c.2522G>C (p.Cys841Ser)
c.2588G>C (p.Cys863Ser)
c.2585G>C (p.Cys862Ser)
c.2558G>C (p.Cys853Ser)
c.2504G>C (p.Cys835Ser)
c.2477G>C (p.Cys826Ser)
c.2462G>C (p.Cys821Ser)
c.2069G>C (p.Cys690Ser)
c.2531G>C (p.Cys844Ser)
c.2468G>C (p.Cys823Ser)
c.2465G>C (p.Cys822Ser)
c.2423G>C (p.Cys808Ser)
c.1496G>C (p.Cys499Ser)
20g.63406783C>TCA409636902KCNQ2c.2534G>A (p.Cys845Tyr)
c.2480G>A (p.Cys827Tyr)
c.1877G>A (p.Cys626Tyr)
c.2387G>A (p.Cys796Tyr)
c.2048G>A (p.Cys683Tyr)
c.2396G>A (p.Cys799Tyr)
c.2241+263G>A (n.2241+263G>A)
c.2205+263G>A (n.2205+263G>A)
c.2426G>A (p.Cys809Tyr)
c.2133+263G>A (n.2133+263G>A)
c.1680-5940G>A (n.1680-5940G>A)
c.2522G>A (p.Cys841Tyr)
c.2588G>A (p.Cys863Tyr)
c.2585G>A (p.Cys862Tyr)
c.2558G>A (p.Cys853Tyr)
c.2504G>A (p.Cys835Tyr)
c.2477G>A (p.Cys826Tyr)
c.2462G>A (p.Cys821Tyr)
c.2069G>A (p.Cys690Tyr)
c.2531G>A (p.Cys844Tyr)
c.2468G>A (p.Cys823Tyr)
c.2465G>A (p.Cys822Tyr)
c.2423G>A (p.Cys808Tyr)
c.1496G>A (p.Cys499Tyr)
 gnomAD v4
20g.63406784A>CCA409636904KCNQ2c.2533T>G (p.Cys845Gly)
c.2479T>G (p.Cys827Gly)
c.1876T>G (p.Cys626Gly)
c.2386T>G (p.Cys796Gly)
c.2047T>G (p.Cys683Gly)
c.2395T>G (p.Cys799Gly)
c.2241+262T>G (n.2241+262T>G)
c.2205+262T>G (n.2205+262T>G)
c.2425T>G (p.Cys809Gly)
c.2133+262T>G (n.2133+262T>G)
c.1680-5941T>G (n.1680-5941T>G)
c.2521T>G (p.Cys841Gly)
c.2587T>G (p.Cys863Gly)
c.2584T>G (p.Cys862Gly)
c.2557T>G (p.Cys853Gly)
c.2503T>G (p.Cys835Gly)
c.2476T>G (p.Cys826Gly)
c.2461T>G (p.Cys821Gly)
c.2068T>G (p.Cys690Gly)
c.2530T>G (p.Cys844Gly)
c.2467T>G (p.Cys823Gly)
c.2464T>G (p.Cys822Gly)
c.2422T>G (p.Cys808Gly)
c.1495T>G (p.Cys499Gly)
20g.63406784A>GCA409636905KCNQ2c.2533T>C (p.Cys845Arg)
c.2479T>C (p.Cys827Arg)
c.1876T>C (p.Cys626Arg)
c.2386T>C (p.Cys796Arg)
c.2047T>C (p.Cys683Arg)
c.2395T>C (p.Cys799Arg)
c.2241+262T>C (n.2241+262T>C)
c.2205+262T>C (n.2205+262T>C)
c.2425T>C (p.Cys809Arg)
c.2133+262T>C (n.2133+262T>C)
c.1680-5941T>C (n.1680-5941T>C)
c.2521T>C (p.Cys841Arg)
c.2587T>C (p.Cys863Arg)
c.2584T>C (p.Cys862Arg)
c.2557T>C (p.Cys853Arg)
c.2503T>C (p.Cys835Arg)
c.2476T>C (p.Cys826Arg)
c.2461T>C (p.Cys821Arg)
c.2068T>C (p.Cys690Arg)
c.2530T>C (p.Cys844Arg)
c.2467T>C (p.Cys823Arg)
c.2464T>C (p.Cys822Arg)
c.2422T>C (p.Cys808Arg)
c.1495T>C (p.Cys499Arg)
 ClinVar dbSNP
20g.63406784A>TCA409636907KCNQ2c.2533T>A (p.Cys845Ser)
c.2479T>A (p.Cys827Ser)
c.1876T>A (p.Cys626Ser)
c.2386T>A (p.Cys796Ser)
c.2047T>A (p.Cys683Ser)
c.2395T>A (p.Cys799Ser)
c.2241+262T>A (n.2241+262T>A)
c.2205+262T>A (n.2205+262T>A)
c.2425T>A (p.Cys809Ser)
c.2133+262T>A (n.2133+262T>A)
c.1680-5941T>A (n.1680-5941T>A)
c.2521T>A (p.Cys841Ser)
c.2587T>A (p.Cys863Ser)
c.2584T>A (p.Cys862Ser)
c.2557T>A (p.Cys853Ser)
c.2503T>A (p.Cys835Ser)
c.2476T>A (p.Cys826Ser)
c.2461T>A (p.Cys821Ser)
c.2068T>A (p.Cys690Ser)
c.2530T>A (p.Cys844Ser)
c.2467T>A (p.Cys823Ser)
c.2464T>A (p.Cys822Ser)
c.2422T>A (p.Cys808Ser)
c.1495T>A (p.Cys499Ser)
20g.63406785A>CCA511339288KCNQ2c.2532T>G (p.Pro844=)
c.2478T>G (p.Pro826=)
c.1875T>G (p.Pro625=)
c.2385T>G (p.Pro795=)
c.2046T>G (p.Pro682=)
c.2394T>G (p.Pro798=)
c.2241+261T>G (n.2241+261T>G)
c.2205+261T>G (n.2205+261T>G)
c.2424T>G (p.Pro808=)
c.2133+261T>G (n.2133+261T>G)
c.1680-5942T>G (n.1680-5942T>G)
c.2520T>G (p.Pro840=)
c.2586T>G (p.Pro862=)
c.2583T>G (p.Pro861=)
c.2556T>G (p.Pro852=)
c.2502T>G (p.Pro834=)
c.2475T>G (p.Pro825=)
c.2460T>G (p.Pro820=)
c.2067T>G (p.Pro689=)
c.2529T>G (p.Pro843=)
c.2466T>G (p.Pro822=)
c.2463T>G (p.Pro821=)
c.2421T>G (p.Pro807=)
c.1494T>G (p.Pro498=)
20g.63406785A>GCA511339290KCNQ2c.2532T>C (p.Pro844=)
c.2478T>C (p.Pro826=)
c.1875T>C (p.Pro625=)
c.2385T>C (p.Pro795=)
c.2046T>C (p.Pro682=)
c.2394T>C (p.Pro798=)
c.2241+261T>C (n.2241+261T>C)
c.2205+261T>C (n.2205+261T>C)
c.2424T>C (p.Pro808=)
c.2133+261T>C (n.2133+261T>C)
c.1680-5942T>C (n.1680-5942T>C)
c.2520T>C (p.Pro840=)
c.2586T>C (p.Pro862=)
c.2583T>C (p.Pro861=)
c.2556T>C (p.Pro852=)
c.2502T>C (p.Pro834=)
c.2475T>C (p.Pro825=)
c.2460T>C (p.Pro820=)
c.2067T>C (p.Pro689=)
c.2529T>C (p.Pro843=)
c.2466T>C (p.Pro822=)
c.2463T>C (p.Pro821=)
c.2421T>C (p.Pro807=)
c.1494T>C (p.Pro498=)
 dbSNP
20g.63406785A>TCA511339292KCNQ2c.2532T>A (p.Pro844=)
c.2478T>A (p.Pro826=)
c.1875T>A (p.Pro625=)
c.2385T>A (p.Pro795=)
c.2046T>A (p.Pro682=)
c.2394T>A (p.Pro798=)
c.2241+261T>A (n.2241+261T>A)
c.2205+261T>A (n.2205+261T>A)
c.2424T>A (p.Pro808=)
c.2133+261T>A (n.2133+261T>A)
c.1680-5942T>A (n.1680-5942T>A)
c.2520T>A (p.Pro840=)
c.2586T>A (p.Pro862=)
c.2583T>A (p.Pro861=)
c.2556T>A (p.Pro852=)
c.2502T>A (p.Pro834=)
c.2475T>A (p.Pro825=)
c.2460T>A (p.Pro820=)
c.2067T>A (p.Pro689=)
c.2529T>A (p.Pro843=)
c.2466T>A (p.Pro822=)
c.2463T>A (p.Pro821=)
c.2421T>A (p.Pro807=)
c.1494T>A (p.Pro498=)
20g.63406786G>ACA409636912KCNQ2c.2531C>T (p.Pro844Leu)
c.2477C>T (p.Pro826Leu)
c.1874C>T (p.Pro625Leu)
c.2384C>T (p.Pro795Leu)
c.2045C>T (p.Pro682Leu)
c.2393C>T (p.Pro798Leu)
c.2241+260C>T (n.2241+260C>T)
c.2205+260C>T (n.2205+260C>T)
c.2423C>T (p.Pro808Leu)
c.2133+260C>T (n.2133+260C>T)
c.1680-5943C>T (n.1680-5943C>T)
c.2519C>T (p.Pro840Leu)
c.2585C>T (p.Pro862Leu)
c.2582C>T (p.Pro861Leu)
c.2555C>T (p.Pro852Leu)
c.2501C>T (p.Pro834Leu)
c.2474C>T (p.Pro825Leu)
c.2459C>T (p.Pro820Leu)
c.2066C>T (p.Pro689Leu)
c.2528C>T (p.Pro843Leu)
c.2465C>T (p.Pro822Leu)
c.2462C>T (p.Pro821Leu)
c.2420C>T (p.Pro807Leu)
c.1493C>T (p.Pro498Leu)
20g.63406786G>CCA409636910KCNQ2c.2531C>G (p.Pro844Arg)
c.2477C>G (p.Pro826Arg)
c.1874C>G (p.Pro625Arg)
c.2384C>G (p.Pro795Arg)
c.2045C>G (p.Pro682Arg)
c.2393C>G (p.Pro798Arg)
c.2241+260C>G (n.2241+260C>G)
c.2205+260C>G (n.2205+260C>G)
c.2423C>G (p.Pro808Arg)
c.2133+260C>G (n.2133+260C>G)
c.1680-5943C>G (n.1680-5943C>G)
c.2519C>G (p.Pro840Arg)
c.2585C>G (p.Pro862Arg)
c.2582C>G (p.Pro861Arg)
c.2555C>G (p.Pro852Arg)
c.2501C>G (p.Pro834Arg)
c.2474C>G (p.Pro825Arg)
c.2459C>G (p.Pro820Arg)
c.2066C>G (p.Pro689Arg)
c.2528C>G (p.Pro843Arg)
c.2465C>G (p.Pro822Arg)
c.2462C>G (p.Pro821Arg)
c.2420C>G (p.Pro807Arg)
c.1493C>G (p.Pro498Arg)
 ClinVar dbSNP
20g.63406786G>TCA409636909KCNQ2c.2531C>A (p.Pro844His)
c.2477C>A (p.Pro826His)
c.1874C>A (p.Pro625His)
c.2384C>A (p.Pro795His)
c.2045C>A (p.Pro682His)
c.2393C>A (p.Pro798His)
c.2241+260C>A (n.2241+260C>A)
c.2205+260C>A (n.2205+260C>A)
c.2423C>A (p.Pro808His)
c.2133+260C>A (n.2133+260C>A)
c.1680-5943C>A (n.1680-5943C>A)
c.2519C>A (p.Pro840His)
c.2585C>A (p.Pro862His)
c.2582C>A (p.Pro861His)
c.2555C>A (p.Pro852His)
c.2501C>A (p.Pro834His)
c.2474C>A (p.Pro825His)
c.2459C>A (p.Pro820His)
c.2066C>A (p.Pro689His)
c.2528C>A (p.Pro843His)
c.2465C>A (p.Pro822His)
c.2462C>A (p.Pro821His)
c.2420C>A (p.Pro807His)
c.1493C>A (p.Pro498His)
 COSMIC COSMIC COSMIC
20g.63406787G>ACA409636914KCNQ2c.2530C>T (p.Pro844Ser)
c.2476C>T (p.Pro826Ser)
c.1873C>T (p.Pro625Ser)
c.2383C>T (p.Pro795Ser)
c.2044C>T (p.Pro682Ser)
c.2392C>T (p.Pro798Ser)
c.2241+259C>T (n.2241+259C>T)
c.2205+259C>T (n.2205+259C>T)
c.2422C>T (p.Pro808Ser)
c.2133+259C>T (n.2133+259C>T)
c.1680-5944C>T (n.1680-5944C>T)
c.2518C>T (p.Pro840Ser)
c.2584C>T (p.Pro862Ser)
c.2581C>T (p.Pro861Ser)
c.2554C>T (p.Pro852Ser)
c.2500C>T (p.Pro834Ser)
c.2473C>T (p.Pro825Ser)
c.2458C>T (p.Pro820Ser)
c.2065C>T (p.Pro689Ser)
c.2527C>T (p.Pro843Ser)
c.2464C>T (p.Pro822Ser)
c.2461C>T (p.Pro821Ser)
c.2419C>T (p.Pro807Ser)
c.1492C>T (p.Pro498Ser)
20g.63406787G>CCA409636916KCNQ2c.2530C>G (p.Pro844Ala)
c.2476C>G (p.Pro826Ala)
c.1873C>G (p.Pro625Ala)
c.2383C>G (p.Pro795Ala)
c.2044C>G (p.Pro682Ala)
c.2392C>G (p.Pro798Ala)
c.2241+259C>G (n.2241+259C>G)
c.2205+259C>G (n.2205+259C>G)
c.2422C>G (p.Pro808Ala)
c.2133+259C>G (n.2133+259C>G)
c.1680-5944C>G (n.1680-5944C>G)
c.2518C>G (p.Pro840Ala)
c.2584C>G (p.Pro862Ala)
c.2581C>G (p.Pro861Ala)
c.2554C>G (p.Pro852Ala)
c.2500C>G (p.Pro834Ala)
c.2473C>G (p.Pro825Ala)
c.2458C>G (p.Pro820Ala)
c.2065C>G (p.Pro689Ala)
c.2527C>G (p.Pro843Ala)
c.2464C>G (p.Pro822Ala)
c.2461C>G (p.Pro821Ala)
c.2419C>G (p.Pro807Ala)
c.1492C>G (p.Pro498Ala)
20g.63406787G>TCA409636918KCNQ2c.2530C>A (p.Pro844Thr)
c.2476C>A (p.Pro826Thr)
c.1873C>A (p.Pro625Thr)
c.2383C>A (p.Pro795Thr)
c.2044C>A (p.Pro682Thr)
c.2392C>A (p.Pro798Thr)
c.2241+259C>A (n.2241+259C>A)
c.2205+259C>A (n.2205+259C>A)
c.2422C>A (p.Pro808Thr)
c.2133+259C>A (n.2133+259C>A)
c.1680-5944C>A (n.1680-5944C>A)
c.2518C>A (p.Pro840Thr)
c.2584C>A (p.Pro862Thr)
c.2581C>A (p.Pro861Thr)
c.2554C>A (p.Pro852Thr)
c.2500C>A (p.Pro834Thr)
c.2473C>A (p.Pro825Thr)
c.2458C>A (p.Pro820Thr)
c.2065C>A (p.Pro689Thr)
c.2527C>A (p.Pro843Thr)
c.2464C>A (p.Pro822Thr)
c.2461C>A (p.Pro821Thr)
c.2419C>A (p.Pro807Thr)
c.1492C>A (p.Pro498Thr)
 gnomAD v4
20g.63406788C>ACA511339299KCNQ2c.2529G>T (p.Ala843=)
c.2475G>T (p.Ala825=)
c.1872G>T (p.Ala624=)
c.2382G>T (p.Ala794=)
c.2043G>T (p.Ala681=)
c.2391G>T (p.Ala797=)
c.2241+258G>T (n.2241+258G>T)
c.2205+258G>T (n.2205+258G>T)
c.2421G>T (p.Ala807=)
c.2133+258G>T (n.2133+258G>T)
c.1680-5945G>T (n.1680-5945G>T)
c.2517G>T (p.Ala839=)
c.2583G>T (p.Ala861=)
c.2580G>T (p.Ala860=)
c.2553G>T (p.Ala851=)
c.2499G>T (p.Ala833=)
c.2472G>T (p.Ala824=)
c.2457G>T (p.Ala819=)
c.2064G>T (p.Ala688=)
c.2526G>T (p.Ala842=)
c.2463G>T (p.Ala821=)
c.2460G>T (p.Ala820=)
c.2418G>T (p.Ala806=)
c.1491G>T (p.Ala497=)
20g.63406788C=CA2374774247KCNQ2c.2529G= (p.Ala843=)
c.2475G= (p.Ala825=)
c.1872G= (p.Ala624=)
c.2382G= (p.Ala794=)
c.2043G= (p.Ala681=)
c.2391G= (p.Ala797=)
c.2241+258G= (n.2241+258G=)
c.2205+258G= (n.2205+258G=)
c.2421G= (p.Ala807=)
c.2133+258G= (n.2133+258G=)
c.1680-5945G= (n.1680-5945G=)
c.2517G= (p.Ala839=)
c.2583G= (p.Ala861=)
c.2580G= (p.Ala860=)
c.2553G= (p.Ala851=)
c.2499G= (p.Ala833=)
c.2472G= (p.Ala824=)
c.2457G= (p.Ala819=)
c.2064G= (p.Ala688=)
c.2526G= (p.Ala842=)
c.2463G= (p.Ala821=)
c.2460G= (p.Ala820=)
c.2418G= (p.Ala806=)
c.1491G= (p.Ala497=)
20g.63406788C>GCA511339295KCNQ2c.2529G>C (p.Ala843=)
c.2475G>C (p.Ala825=)
c.1872G>C (p.Ala624=)
c.2382G>C (p.Ala794=)
c.2043G>C (p.Ala681=)
c.2391G>C (p.Ala797=)
c.2241+258G>C (n.2241+258G>C)
c.2205+258G>C (n.2205+258G>C)
c.2421G>C (p.Ala807=)
c.2133+258G>C (n.2133+258G>C)
c.1680-5945G>C (n.1680-5945G>C)
c.2517G>C (p.Ala839=)
c.2583G>C (p.Ala861=)
c.2580G>C (p.Ala860=)
c.2553G>C (p.Ala851=)
c.2499G>C (p.Ala833=)
c.2472G>C (p.Ala824=)
c.2457G>C (p.Ala819=)
c.2064G>C (p.Ala688=)
c.2526G>C (p.Ala842=)
c.2463G>C (p.Ala821=)
c.2460G>C (p.Ala820=)
c.2418G>C (p.Ala806=)
c.1491G>C (p.Ala497=)
20g.63406788C>TCA511339298KCNQ2c.2529G>A (p.Ala843=)
c.2475G>A (p.Ala825=)
c.1872G>A (p.Ala624=)
c.2382G>A (p.Ala794=)
c.2043G>A (p.Ala681=)
c.2391G>A (p.Ala797=)
c.2241+258G>A (n.2241+258G>A)
c.2205+258G>A (n.2205+258G>A)
c.2421G>A (p.Ala807=)
c.2133+258G>A (n.2133+258G>A)
c.1680-5945G>A (n.1680-5945G>A)
c.2517G>A (p.Ala839=)
c.2583G>A (p.Ala861=)
c.2580G>A (p.Ala860=)
c.2553G>A (p.Ala851=)
c.2499G>A (p.Ala833=)
c.2472G>A (p.Ala824=)
c.2457G>A (p.Ala819=)
c.2064G>A (p.Ala688=)
c.2526G>A (p.Ala842=)
c.2463G>A (p.Ala821=)
c.2460G>A (p.Ala820=)
c.2418G>A (p.Ala806=)
c.1491G>A (p.Ala497=)
 ClinVar dbSNP gnomAD v4
20g.63406789G>ACA409636920KCNQ2c.2528C>T (p.Ala843Val)
c.2474C>T (p.Ala825Val)
c.1871C>T (p.Ala624Val)
c.2381C>T (p.Ala794Val)
c.2042C>T (p.Ala681Val)
c.2390C>T (p.Ala797Val)
c.2241+257C>T (n.2241+257C>T)
c.2205+257C>T (n.2205+257C>T)
c.2420C>T (p.Ala807Val)
c.2133+257C>T (n.2133+257C>T)
c.1680-5946C>T (n.1680-5946C>T)
c.2516C>T (p.Ala839Val)
c.2582C>T (p.Ala861Val)
c.2579C>T (p.Ala860Val)
c.2552C>T (p.Ala851Val)
c.2498C>T (p.Ala833Val)
c.2471C>T (p.Ala824Val)
c.2456C>T (p.Ala819Val)
c.2063C>T (p.Ala688Val)
c.2525C>T (p.Ala842Val)
c.2462C>T (p.Ala821Val)
c.2459C>T (p.Ala820Val)
c.2417C>T (p.Ala806Val)
c.1490C>T (p.Ala497Val)
 gnomAD v4
20g.63406789G>CCA409636921KCNQ2c.2528C>G (p.Ala843Gly)
c.2474C>G (p.Ala825Gly)
c.1871C>G (p.Ala624Gly)
c.2381C>G (p.Ala794Gly)
c.2042C>G (p.Ala681Gly)
c.2390C>G (p.Ala797Gly)
c.2241+257C>G (n.2241+257C>G)
c.2205+257C>G (n.2205+257C>G)
c.2420C>G (p.Ala807Gly)
c.2133+257C>G (n.2133+257C>G)
c.1680-5946C>G (n.1680-5946C>G)
c.2516C>G (p.Ala839Gly)
c.2582C>G (p.Ala861Gly)
c.2579C>G (p.Ala860Gly)
c.2552C>G (p.Ala851Gly)
c.2498C>G (p.Ala833Gly)
c.2471C>G (p.Ala824Gly)
c.2456C>G (p.Ala819Gly)
c.2063C>G (p.Ala688Gly)
c.2525C>G (p.Ala842Gly)
c.2462C>G (p.Ala821Gly)
c.2459C>G (p.Ala820Gly)
c.2417C>G (p.Ala806Gly)
c.1490C>G (p.Ala497Gly)
 ClinVar dbSNP
20g.63406789G=CA2374774248KCNQ2c.2528C= (p.Ala843=)
c.2474C= (p.Ala825=)
c.1871C= (p.Ala624=)
c.2381C= (p.Ala794=)
c.2042C= (p.Ala681=)
c.2390C= (p.Ala797=)
c.2241+257C= (n.2241+257C=)
c.2205+257C= (n.2205+257C=)
c.2420C= (p.Ala807=)
c.2133+257C= (n.2133+257C=)
c.1680-5946C= (n.1680-5946C=)
c.2516C= (p.Ala839=)
c.2582C= (p.Ala861=)
c.2579C= (p.Ala860=)
c.2552C= (p.Ala851=)
c.2498C= (p.Ala833=)
c.2471C= (p.Ala824=)
c.2456C= (p.Ala819=)
c.2063C= (p.Ala688=)
c.2525C= (p.Ala842=)
c.2462C= (p.Ala821=)
c.2459C= (p.Ala820=)
c.2417C= (p.Ala806=)
c.1490C= (p.Ala497=)
20g.63406789G>TCA409636923KCNQ2c.2528C>A (p.Ala843Glu)
c.2474C>A (p.Ala825Glu)
c.1871C>A (p.Ala624Glu)
c.2381C>A (p.Ala794Glu)
c.2042C>A (p.Ala681Glu)
c.2390C>A (p.Ala797Glu)
c.2241+257C>A (n.2241+257C>A)
c.2205+257C>A (n.2205+257C>A)
c.2420C>A (p.Ala807Glu)
c.2133+257C>A (n.2133+257C>A)
c.1680-5946C>A (n.1680-5946C>A)
c.2516C>A (p.Ala839Glu)
c.2582C>A (p.Ala861Glu)
c.2579C>A (p.Ala860Glu)
c.2552C>A (p.Ala851Glu)
c.2498C>A (p.Ala833Glu)
c.2471C>A (p.Ala824Glu)
c.2456C>A (p.Ala819Glu)
c.2063C>A (p.Ala688Glu)
c.2525C>A (p.Ala842Glu)
c.2462C>A (p.Ala821Glu)
c.2459C>A (p.Ala820Glu)
c.2417C>A (p.Ala806Glu)
c.1490C>A (p.Ala497Glu)
 COSMIC
20g.63406790C>ACA409636925KCNQ2c.2527G>T (p.Ala843Ser)
c.2473G>T (p.Ala825Ser)
c.1870G>T (p.Ala624Ser)
c.2380G>T (p.Ala794Ser)
c.2041G>T (p.Ala681Ser)
c.2389G>T (p.Ala797Ser)
c.2241+256G>T (n.2241+256G>T)
c.2205+256G>T (n.2205+256G>T)
c.2419G>T (p.Ala807Ser)
c.2133+256G>T (n.2133+256G>T)
c.1680-5947G>T (n.1680-5947G>T)
c.2515G>T (p.Ala839Ser)
c.2581G>T (p.Ala861Ser)
c.2578G>T (p.Ala860Ser)
c.2551G>T (p.Ala851Ser)
c.2497G>T (p.Ala833Ser)
c.2470G>T (p.Ala824Ser)
c.2455G>T (p.Ala819Ser)
c.2062G>T (p.Ala688Ser)
c.2524G>T (p.Ala842Ser)
c.2461G>T (p.Ala821Ser)
c.2458G>T (p.Ala820Ser)
c.2416G>T (p.Ala806Ser)
c.1489G>T (p.Ala497Ser)
20g.63406790C>GCA409636927KCNQ2c.2527G>C (p.Ala843Pro)
c.2473G>C (p.Ala825Pro)
c.1870G>C (p.Ala624Pro)
c.2380G>C (p.Ala794Pro)
c.2041G>C (p.Ala681Pro)
c.2389G>C (p.Ala797Pro)
c.2241+256G>C (n.2241+256G>C)
c.2205+256G>C (n.2205+256G>C)
c.2419G>C (p.Ala807Pro)
c.2133+256G>C (n.2133+256G>C)
c.1680-5947G>C (n.1680-5947G>C)
c.2515G>C (p.Ala839Pro)
c.2581G>C (p.Ala861Pro)
c.2578G>C (p.Ala860Pro)
c.2551G>C (p.Ala851Pro)
c.2497G>C (p.Ala833Pro)
c.2470G>C (p.Ala824Pro)
c.2455G>C (p.Ala819Pro)
c.2062G>C (p.Ala688Pro)
c.2524G>C (p.Ala842Pro)
c.2461G>C (p.Ala821Pro)
c.2458G>C (p.Ala820Pro)
c.2416G>C (p.Ala806Pro)
c.1489G>C (p.Ala497Pro)
20g.63406790C>TCA409636929KCNQ2c.2527G>A (p.Ala843Thr)
c.2473G>A (p.Ala825Thr)
c.1870G>A (p.Ala624Thr)
c.2380G>A (p.Ala794Thr)
c.2041G>A (p.Ala681Thr)
c.2389G>A (p.Ala797Thr)
c.2241+256G>A (n.2241+256G>A)
c.2205+256G>A (n.2205+256G>A)
c.2419G>A (p.Ala807Thr)
c.2133+256G>A (n.2133+256G>A)
c.1680-5947G>A (n.1680-5947G>A)
c.2515G>A (p.Ala839Thr)
c.2581G>A (p.Ala861Thr)
c.2578G>A (p.Ala860Thr)
c.2551G>A (p.Ala851Thr)
c.2497G>A (p.Ala833Thr)
c.2470G>A (p.Ala824Thr)
c.2455G>A (p.Ala819Thr)
c.2062G>A (p.Ala688Thr)
c.2524G>A (p.Ala842Thr)
c.2461G>A (p.Ala821Thr)
c.2458G>A (p.Ala820Thr)
c.2416G>A (p.Ala806Thr)
c.1489G>A (p.Ala497Thr)
20g.63406791C>ACA511339306KCNQ2c.2526G>T (p.Val842=)
c.2472G>T (p.Val824=)
c.1869G>T (p.Val623=)
c.2379G>T (p.Val793=)
c.2040G>T (p.Val680=)
c.2388G>T (p.Val796=)
c.2241+255G>T (n.2241+255G>T)
c.2205+255G>T (n.2205+255G>T)
c.2418G>T (p.Val806=)
c.2133+255G>T (n.2133+255G>T)
c.1680-5948G>T (n.1680-5948G>T)
c.2514G>T (p.Val838=)
c.2580G>T (p.Val860=)
c.2577G>T (p.Val859=)
c.2550G>T (p.Val850=)
c.2496G>T (p.Val832=)
c.2469G>T (p.Val823=)
c.2454G>T (p.Val818=)
c.2061G>T (p.Val687=)
c.2523G>T (p.Val841=)
c.2460G>T (p.Val820=)
c.2457G>T (p.Val819=)
c.2415G>T (p.Val805=)
c.1488G>T (p.Val496=)
20g.63406791C>GCA511339307KCNQ2c.2526G>C (p.Val842=)
c.2472G>C (p.Val824=)
c.1869G>C (p.Val623=)
c.2379G>C (p.Val793=)
c.2040G>C (p.Val680=)
c.2388G>C (p.Val796=)
c.2241+255G>C (n.2241+255G>C)
c.2205+255G>C (n.2205+255G>C)
c.2418G>C (p.Val806=)
c.2133+255G>C (n.2133+255G>C)
c.1680-5948G>C (n.1680-5948G>C)
c.2514G>C (p.Val838=)
c.2580G>C (p.Val860=)
c.2577G>C (p.Val859=)
c.2550G>C (p.Val850=)
c.2496G>C (p.Val832=)
c.2469G>C (p.Val823=)
c.2454G>C (p.Val818=)
c.2061G>C (p.Val687=)
c.2523G>C (p.Val841=)
c.2460G>C (p.Val820=)
c.2457G>C (p.Val819=)
c.2415G>C (p.Val805=)
c.1488G>C (p.Val496=)
20g.63406791C>TCA511339308KCNQ2c.2526G>A (p.Val842=)
c.2472G>A (p.Val824=)
c.1869G>A (p.Val623=)
c.2379G>A (p.Val793=)
c.2040G>A (p.Val680=)
c.2388G>A (p.Val796=)
c.2241+255G>A (n.2241+255G>A)
c.2205+255G>A (n.2205+255G>A)
c.2418G>A (p.Val806=)
c.2133+255G>A (n.2133+255G>A)
c.1680-5948G>A (n.1680-5948G>A)
c.2514G>A (p.Val838=)
c.2580G>A (p.Val860=)
c.2577G>A (p.Val859=)
c.2550G>A (p.Val850=)
c.2496G>A (p.Val832=)
c.2469G>A (p.Val823=)
c.2454G>A (p.Val818=)
c.2061G>A (p.Val687=)
c.2523G>A (p.Val841=)
c.2460G>A (p.Val820=)
c.2457G>A (p.Val819=)
c.2415G>A (p.Val805=)
c.1488G>A (p.Val496=)
20g.63406792A>CCA409636931KCNQ2c.2525T>G (p.Val842Gly)
c.2471T>G (p.Val824Gly)
c.1868T>G (p.Val623Gly)
c.2378T>G (p.Val793Gly)
c.2039T>G (p.Val680Gly)
c.2387T>G (p.Val796Gly)
c.2241+254T>G (n.2241+254T>G)
c.2205+254T>G (n.2205+254T>G)
c.2417T>G (p.Val806Gly)
c.2133+254T>G (n.2133+254T>G)
c.1680-5949T>G (n.1680-5949T>G)
c.2513T>G (p.Val838Gly)
c.2579T>G (p.Val860Gly)
c.2576T>G (p.Val859Gly)
c.2549T>G (p.Val850Gly)
c.2495T>G (p.Val832Gly)
c.2468T>G (p.Val823Gly)
c.2453T>G (p.Val818Gly)
c.2060T>G (p.Val687Gly)
c.2522T>G (p.Val841Gly)
c.2459T>G (p.Val820Gly)
c.2456T>G (p.Val819Gly)
c.2414T>G (p.Val805Gly)
c.1487T>G (p.Val496Gly)
20g.63406792A>GCA409636933KCNQ2c.2525T>C (p.Val842Ala)
c.2471T>C (p.Val824Ala)
c.1868T>C (p.Val623Ala)
c.2378T>C (p.Val793Ala)
c.2039T>C (p.Val680Ala)
c.2387T>C (p.Val796Ala)
c.2241+254T>C (n.2241+254T>C)
c.2205+254T>C (n.2205+254T>C)
c.2417T>C (p.Val806Ala)
c.2133+254T>C (n.2133+254T>C)
c.1680-5949T>C (n.1680-5949T>C)
c.2513T>C (p.Val838Ala)
c.2579T>C (p.Val860Ala)
c.2576T>C (p.Val859Ala)
c.2549T>C (p.Val850Ala)
c.2495T>C (p.Val832Ala)
c.2468T>C (p.Val823Ala)
c.2453T>C (p.Val818Ala)
c.2060T>C (p.Val687Ala)
c.2522T>C (p.Val841Ala)
c.2459T>C (p.Val820Ala)
c.2456T>C (p.Val819Ala)
c.2414T>C (p.Val805Ala)
c.1487T>C (p.Val496Ala)
 gnomAD v4
20g.63406792A>TCA409636935KCNQ2c.2525T>A (p.Val842Glu)
c.2471T>A (p.Val824Glu)
c.1868T>A (p.Val623Glu)
c.2378T>A (p.Val793Glu)
c.2039T>A (p.Val680Glu)
c.2387T>A (p.Val796Glu)
c.2241+254T>A (n.2241+254T>A)
c.2205+254T>A (n.2205+254T>A)
c.2417T>A (p.Val806Glu)
c.2133+254T>A (n.2133+254T>A)
c.1680-5949T>A (n.1680-5949T>A)
c.2513T>A (p.Val838Glu)
c.2579T>A (p.Val860Glu)
c.2576T>A (p.Val859Glu)
c.2549T>A (p.Val850Glu)
c.2495T>A (p.Val832Glu)
c.2468T>A (p.Val823Glu)
c.2453T>A (p.Val818Glu)
c.2060T>A (p.Val687Glu)
c.2522T>A (p.Val841Glu)
c.2459T>A (p.Val820Glu)
c.2456T>A (p.Val819Glu)
c.2414T>A (p.Val805Glu)
c.1487T>A (p.Val496Glu)
20g.63406793C>ACA409636940KCNQ2c.2524G>T (p.Val842Leu)
c.2470G>T (p.Val824Leu)
c.1867G>T (p.Val623Leu)
c.2377G>T (p.Val793Leu)
c.2038G>T (p.Val680Leu)
c.2386G>T (p.Val796Leu)
c.2241+253G>T (n.2241+253G>T)
c.2205+253G>T (n.2205+253G>T)
c.2416G>T (p.Val806Leu)
c.2133+253G>T (n.2133+253G>T)
c.1680-5950G>T (n.1680-5950G>T)
c.2512G>T (p.Val838Leu)
c.2578G>T (p.Val860Leu)
c.2575G>T (p.Val859Leu)
c.2548G>T (p.Val850Leu)
c.2494G>T (p.Val832Leu)
c.2467G>T (p.Val823Leu)
c.2452G>T (p.Val818Leu)
c.2059G>T (p.Val687Leu)
c.2521G>T (p.Val841Leu)
c.2458G>T (p.Val820Leu)
c.2455G>T (p.Val819Leu)
c.2413G>T (p.Val805Leu)
c.1486G>T (p.Val496Leu)
20g.63406793C=CA2374774249KCNQ2c.2524G= (p.Val842=)
c.2470G= (p.Val824=)
c.1867G= (p.Val623=)
c.2377G= (p.Val793=)
c.2038G= (p.Val680=)
c.2386G= (p.Val796=)
c.2241+253G= (n.2241+253G=)
c.2205+253G= (n.2205+253G=)
c.2416G= (p.Val806=)
c.2133+253G= (n.2133+253G=)
c.1680-5950G= (n.1680-5950G=)
c.2512G= (p.Val838=)
c.2578G= (p.Val860=)
c.2575G= (p.Val859=)
c.2548G= (p.Val850=)
c.2494G= (p.Val832=)
c.2467G= (p.Val823=)
c.2452G= (p.Val818=)
c.2059G= (p.Val687=)
c.2521G= (p.Val841=)
c.2458G= (p.Val820=)
c.2455G= (p.Val819=)
c.2413G= (p.Val805=)
c.1486G= (p.Val496=)
20g.63406793C>GCA9958070KCNQ2c.2524G>C (p.Val842Leu)
c.2470G>C (p.Val824Leu)
c.1867G>C (p.Val623Leu)
c.2377G>C (p.Val793Leu)
c.2038G>C (p.Val680Leu)
c.2386G>C (p.Val796Leu)
c.2241+253G>C (n.2241+253G>C)
c.2205+253G>C (n.2205+253G>C)
c.2416G>C (p.Val806Leu)
c.2133+253G>C (n.2133+253G>C)
c.1680-5950G>C (n.1680-5950G>C)
c.2512G>C (p.Val838Leu)
c.2578G>C (p.Val860Leu)
c.2575G>C (p.Val859Leu)
c.2548G>C (p.Val850Leu)
c.2494G>C (p.Val832Leu)
c.2467G>C (p.Val823Leu)
c.2452G>C (p.Val818Leu)
c.2059G>C (p.Val687Leu)
c.2521G>C (p.Val841Leu)
c.2458G>C (p.Val820Leu)
c.2455G>C (p.Val819Leu)
c.2413G>C (p.Val805Leu)
c.1486G>C (p.Val496Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406793C>TCA409636938KCNQ2c.2524G>A (p.Val842Met)
c.2470G>A (p.Val824Met)
c.1867G>A (p.Val623Met)
c.2377G>A (p.Val793Met)
c.2038G>A (p.Val680Met)
c.2386G>A (p.Val796Met)
c.2241+253G>A (n.2241+253G>A)
c.2205+253G>A (n.2205+253G>A)
c.2416G>A (p.Val806Met)
c.2133+253G>A (n.2133+253G>A)
c.1680-5950G>A (n.1680-5950G>A)
c.2512G>A (p.Val838Met)
c.2578G>A (p.Val860Met)
c.2575G>A (p.Val859Met)
c.2548G>A (p.Val850Met)
c.2494G>A (p.Val832Met)
c.2467G>A (p.Val823Met)
c.2452G>A (p.Val818Met)
c.2059G>A (p.Val687Met)
c.2521G>A (p.Val841Met)
c.2458G>A (p.Val820Met)
c.2455G>A (p.Val819Met)
c.2413G>A (p.Val805Met)
c.1486G>A (p.Val496Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
20g.63406794G>ACA9958071KCNQ2c.2523C>T (p.Ala841=)
c.2469C>T (p.Ala823=)
c.1866C>T (p.Ala622=)
c.2376C>T (p.Ala792=)
c.2037C>T (p.Ala679=)
c.2385C>T (p.Ala795=)
c.2241+252C>T (n.2241+252C>T)
c.2205+252C>T (n.2205+252C>T)
c.2415C>T (p.Ala805=)
c.2133+252C>T (n.2133+252C>T)
c.1680-5951C>T (n.1680-5951C>T)
c.2511C>T (p.Ala837=)
c.2577C>T (p.Ala859=)
c.2574C>T (p.Ala858=)
c.2547C>T (p.Ala849=)
c.2493C>T (p.Ala831=)
c.2466C>T (p.Ala822=)
c.2451C>T (p.Ala817=)
c.2058C>T (p.Ala686=)
c.2520C>T (p.Ala840=)
c.2457C>T (p.Ala819=)
c.2454C>T (p.Ala818=)
c.2412C>T (p.Ala804=)
c.1485C>T (p.Ala495=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406794G>CCA511339313KCNQ2c.2523C>G (p.Ala841=)
c.2469C>G (p.Ala823=)
c.1866C>G (p.Ala622=)
c.2376C>G (p.Ala792=)
c.2037C>G (p.Ala679=)
c.2385C>G (p.Ala795=)
c.2241+252C>G (n.2241+252C>G)
c.2205+252C>G (n.2205+252C>G)
c.2415C>G (p.Ala805=)
c.2133+252C>G (n.2133+252C>G)
c.1680-5951C>G (n.1680-5951C>G)
c.2511C>G (p.Ala837=)
c.2577C>G (p.Ala859=)
c.2574C>G (p.Ala858=)
c.2547C>G (p.Ala849=)
c.2493C>G (p.Ala831=)
c.2466C>G (p.Ala822=)
c.2451C>G (p.Ala817=)
c.2058C>G (p.Ala686=)
c.2520C>G (p.Ala840=)
c.2457C>G (p.Ala819=)
c.2454C>G (p.Ala818=)
c.2412C>G (p.Ala804=)
c.1485C>G (p.Ala495=)
 gnomAD v4
20g.63406794G=CA2374774250KCNQ2c.2523C= (p.Ala841=)
c.2469C= (p.Ala823=)
c.1866C= (p.Ala622=)
c.2376C= (p.Ala792=)
c.2037C= (p.Ala679=)
c.2385C= (p.Ala795=)
c.2241+252C= (n.2241+252C=)
c.2205+252C= (n.2205+252C=)
c.2415C= (p.Ala805=)
c.2133+252C= (n.2133+252C=)
c.1680-5951C= (n.1680-5951C=)
c.2511C= (p.Ala837=)
c.2577C= (p.Ala859=)
c.2574C= (p.Ala858=)
c.2547C= (p.Ala849=)
c.2493C= (p.Ala831=)
c.2466C= (p.Ala822=)
c.2451C= (p.Ala817=)
c.2058C= (p.Ala686=)
c.2520C= (p.Ala840=)
c.2457C= (p.Ala819=)
c.2454C= (p.Ala818=)
c.2412C= (p.Ala804=)
c.1485C= (p.Ala495=)
20g.63406794G>TCA511339314KCNQ2c.2523C>A (p.Ala841=)
c.2469C>A (p.Ala823=)
c.1866C>A (p.Ala622=)
c.2376C>A (p.Ala792=)
c.2037C>A (p.Ala679=)
c.2385C>A (p.Ala795=)
c.2241+252C>A (n.2241+252C>A)
c.2205+252C>A (n.2205+252C>A)
c.2415C>A (p.Ala805=)
c.2133+252C>A (n.2133+252C>A)
c.1680-5951C>A (n.1680-5951C>A)
c.2511C>A (p.Ala837=)
c.2577C>A (p.Ala859=)
c.2574C>A (p.Ala858=)
c.2547C>A (p.Ala849=)
c.2493C>A (p.Ala831=)
c.2466C>A (p.Ala822=)
c.2451C>A (p.Ala817=)
c.2058C>A (p.Ala686=)
c.2520C>A (p.Ala840=)
c.2457C>A (p.Ala819=)
c.2454C>A (p.Ala818=)
c.2412C>A (p.Ala804=)
c.1485C>A (p.Ala495=)
20g.63406795G>ACA409636944KCNQ2c.2522C>T (p.Ala841Val)
c.2468C>T (p.Ala823Val)
c.1865C>T (p.Ala622Val)
c.2375C>T (p.Ala792Val)
c.2036C>T (p.Ala679Val)
c.2384C>T (p.Ala795Val)
c.2241+251C>T (n.2241+251C>T)
c.2205+251C>T (n.2205+251C>T)
c.2414C>T (p.Ala805Val)
c.2133+251C>T (n.2133+251C>T)
c.1680-5952C>T (n.1680-5952C>T)
c.2510C>T (p.Ala837Val)
c.2576C>T (p.Ala859Val)
c.2573C>T (p.Ala858Val)
c.2546C>T (p.Ala849Val)
c.2492C>T (p.Ala831Val)
c.2465C>T (p.Ala822Val)
c.2450C>T (p.Ala817Val)
c.2057C>T (p.Ala686Val)
c.2519C>T (p.Ala840Val)
c.2456C>T (p.Ala819Val)
c.2453C>T (p.Ala818Val)
c.2411C>T (p.Ala804Val)
c.1484C>T (p.Ala495Val)
20g.63406795G>CCA409636945KCNQ2c.2522C>G (p.Ala841Gly)
c.2468C>G (p.Ala823Gly)
c.1865C>G (p.Ala622Gly)
c.2375C>G (p.Ala792Gly)
c.2036C>G (p.Ala679Gly)
c.2384C>G (p.Ala795Gly)
c.2241+251C>G (n.2241+251C>G)
c.2205+251C>G (n.2205+251C>G)
c.2414C>G (p.Ala805Gly)
c.2133+251C>G (n.2133+251C>G)
c.1680-5952C>G (n.1680-5952C>G)
c.2510C>G (p.Ala837Gly)
c.2576C>G (p.Ala859Gly)
c.2573C>G (p.Ala858Gly)
c.2546C>G (p.Ala849Gly)
c.2492C>G (p.Ala831Gly)
c.2465C>G (p.Ala822Gly)
c.2450C>G (p.Ala817Gly)
c.2057C>G (p.Ala686Gly)
c.2519C>G (p.Ala840Gly)
c.2456C>G (p.Ala819Gly)
c.2453C>G (p.Ala818Gly)
c.2411C>G (p.Ala804Gly)
c.1484C>G (p.Ala495Gly)
20g.63406795G>TCA409636947KCNQ2c.2522C>A (p.Ala841Asp)
c.2468C>A (p.Ala823Asp)
c.1865C>A (p.Ala622Asp)
c.2375C>A (p.Ala792Asp)
c.2036C>A (p.Ala679Asp)
c.2384C>A (p.Ala795Asp)
c.2241+251C>A (n.2241+251C>A)
c.2205+251C>A (n.2205+251C>A)
c.2414C>A (p.Ala805Asp)
c.2133+251C>A (n.2133+251C>A)
c.1680-5952C>A (n.1680-5952C>A)
c.2510C>A (p.Ala837Asp)
c.2576C>A (p.Ala859Asp)
c.2573C>A (p.Ala858Asp)
c.2546C>A (p.Ala849Asp)
c.2492C>A (p.Ala831Asp)
c.2465C>A (p.Ala822Asp)
c.2450C>A (p.Ala817Asp)
c.2057C>A (p.Ala686Asp)
c.2519C>A (p.Ala840Asp)
c.2456C>A (p.Ala819Asp)
c.2453C>A (p.Ala818Asp)
c.2411C>A (p.Ala804Asp)
c.1484C>A (p.Ala495Asp)
 gnomAD v4
20g.63406796C>ACA409636949KCNQ2c.2521G>T (p.Ala841Ser)
c.2467G>T (p.Ala823Ser)
c.1864G>T (p.Ala622Ser)
c.2374G>T (p.Ala792Ser)
c.2035G>T (p.Ala679Ser)
c.2383G>T (p.Ala795Ser)
c.2241+250G>T (n.2241+250G>T)
c.2205+250G>T (n.2205+250G>T)
c.2413G>T (p.Ala805Ser)
c.2133+250G>T (n.2133+250G>T)
c.1680-5953G>T (n.1680-5953G>T)
c.2509G>T (p.Ala837Ser)
c.2575G>T (p.Ala859Ser)
c.2572G>T (p.Ala858Ser)
c.2545G>T (p.Ala849Ser)
c.2491G>T (p.Ala831Ser)
c.2464G>T (p.Ala822Ser)
c.2449G>T (p.Ala817Ser)
c.2056G>T (p.Ala686Ser)
c.2518G>T (p.Ala840Ser)
c.2455G>T (p.Ala819Ser)
c.2452G>T (p.Ala818Ser)
c.2410G>T (p.Ala804Ser)
c.1483G>T (p.Ala495Ser)
20g.63406796C>GCA409636951KCNQ2c.2521G>C (p.Ala841Pro)
c.2467G>C (p.Ala823Pro)
c.1864G>C (p.Ala622Pro)
c.2374G>C (p.Ala792Pro)
c.2035G>C (p.Ala679Pro)
c.2383G>C (p.Ala795Pro)
c.2241+250G>C (n.2241+250G>C)
c.2205+250G>C (n.2205+250G>C)
c.2413G>C (p.Ala805Pro)
c.2133+250G>C (n.2133+250G>C)
c.1680-5953G>C (n.1680-5953G>C)
c.2509G>C (p.Ala837Pro)
c.2575G>C (p.Ala859Pro)
c.2572G>C (p.Ala858Pro)
c.2545G>C (p.Ala849Pro)
c.2491G>C (p.Ala831Pro)
c.2464G>C (p.Ala822Pro)
c.2449G>C (p.Ala817Pro)
c.2056G>C (p.Ala686Pro)
c.2518G>C (p.Ala840Pro)
c.2455G>C (p.Ala819Pro)
c.2452G>C (p.Ala818Pro)
c.2410G>C (p.Ala804Pro)
c.1483G>C (p.Ala495Pro)
20g.63406796C>TCA409636953KCNQ2c.2521G>A (p.Ala841Thr)
c.2467G>A (p.Ala823Thr)
c.1864G>A (p.Ala622Thr)
c.2374G>A (p.Ala792Thr)
c.2035G>A (p.Ala679Thr)
c.2383G>A (p.Ala795Thr)
c.2241+250G>A (n.2241+250G>A)
c.2205+250G>A (n.2205+250G>A)
c.2413G>A (p.Ala805Thr)
c.2133+250G>A (n.2133+250G>A)
c.1680-5953G>A (n.1680-5953G>A)
c.2509G>A (p.Ala837Thr)
c.2575G>A (p.Ala859Thr)
c.2572G>A (p.Ala858Thr)
c.2545G>A (p.Ala849Thr)
c.2491G>A (p.Ala831Thr)
c.2464G>A (p.Ala822Thr)
c.2449G>A (p.Ala817Thr)
c.2056G>A (p.Ala686Thr)
c.2518G>A (p.Ala840Thr)
c.2455G>A (p.Ala819Thr)
c.2452G>A (p.Ala818Thr)
c.2410G>A (p.Ala804Thr)
c.1483G>A (p.Ala495Thr)
20g.63406797C>ACA511339320KCNQ2c.2520G>T (p.Ala840=)
c.2466G>T (p.Ala822=)
c.1863G>T (p.Ala621=)
c.2373G>T (p.Ala791=)
c.2034G>T (p.Ala678=)
c.2382G>T (p.Ala794=)
c.2241+249G>T (n.2241+249G>T)
c.2205+249G>T (n.2205+249G>T)
c.2412G>T (p.Ala804=)
c.2133+249G>T (n.2133+249G>T)
c.1680-5954G>T (n.1680-5954G>T)
c.2508G>T (p.Ala836=)
c.2574G>T (p.Ala858=)
c.2571G>T (p.Ala857=)
c.2544G>T (p.Ala848=)
c.2490G>T (p.Ala830=)
c.2463G>T (p.Ala821=)
c.2448G>T (p.Ala816=)
c.2055G>T (p.Ala685=)
c.2517G>T (p.Ala839=)
c.2454G>T (p.Ala818=)
c.2451G>T (p.Ala817=)
c.2409G>T (p.Ala803=)
c.1482G>T (p.Ala494=)
20g.63406797C=CA2374774251KCNQ2c.2520G= (p.Ala840=)
c.2466G= (p.Ala822=)
c.1863G= (p.Ala621=)
c.2373G= (p.Ala791=)
c.2034G= (p.Ala678=)
c.2382G= (p.Ala794=)
c.2241+249G= (n.2241+249G=)
c.2205+249G= (n.2205+249G=)
c.2412G= (p.Ala804=)
c.2133+249G= (n.2133+249G=)
c.1680-5954G= (n.1680-5954G=)
c.2508G= (p.Ala836=)
c.2574G= (p.Ala858=)
c.2571G= (p.Ala857=)
c.2544G= (p.Ala848=)
c.2490G= (p.Ala830=)
c.2463G= (p.Ala821=)
c.2448G= (p.Ala816=)
c.2055G= (p.Ala685=)
c.2517G= (p.Ala839=)
c.2454G= (p.Ala818=)
c.2451G= (p.Ala817=)
c.2409G= (p.Ala803=)
c.1482G= (p.Ala494=)
20g.63406797C>GCA511339321KCNQ2c.2520G>C (p.Ala840=)
c.2466G>C (p.Ala822=)
c.1863G>C (p.Ala621=)
c.2373G>C (p.Ala791=)
c.2034G>C (p.Ala678=)
c.2382G>C (p.Ala794=)
c.2241+249G>C (n.2241+249G>C)
c.2205+249G>C (n.2205+249G>C)
c.2412G>C (p.Ala804=)
c.2133+249G>C (n.2133+249G>C)
c.1680-5954G>C (n.1680-5954G>C)
c.2508G>C (p.Ala836=)
c.2574G>C (p.Ala858=)
c.2571G>C (p.Ala857=)
c.2544G>C (p.Ala848=)
c.2490G>C (p.Ala830=)
c.2463G>C (p.Ala821=)
c.2448G>C (p.Ala816=)
c.2055G>C (p.Ala685=)
c.2517G>C (p.Ala839=)
c.2454G>C (p.Ala818=)
c.2451G>C (p.Ala817=)
c.2409G>C (p.Ala803=)
c.1482G>C (p.Ala494=)
20g.63406797C>TCA9958072KCNQ2c.2520G>A (p.Ala840=)
c.2466G>A (p.Ala822=)
c.1863G>A (p.Ala621=)
c.2373G>A (p.Ala791=)
c.2034G>A (p.Ala678=)
c.2382G>A (p.Ala794=)
c.2241+249G>A (n.2241+249G>A)
c.2205+249G>A (n.2205+249G>A)
c.2412G>A (p.Ala804=)
c.2133+249G>A (n.2133+249G>A)
c.1680-5954G>A (n.1680-5954G>A)
c.2508G>A (p.Ala836=)
c.2574G>A (p.Ala858=)
c.2571G>A (p.Ala857=)
c.2544G>A (p.Ala848=)
c.2490G>A (p.Ala830=)
c.2463G>A (p.Ala821=)
c.2448G>A (p.Ala816=)
c.2055G>A (p.Ala685=)
c.2517G>A (p.Ala839=)
c.2454G>A (p.Ala818=)
c.2451G>A (p.Ala817=)
c.2409G>A (p.Ala803=)
c.1482G>A (p.Ala494=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406798G>ACA090957KCNQ2c.2519C>T (p.Ala840Val)
c.2465C>T (p.Ala822Val)
c.1862C>T (p.Ala621Val)
c.2372C>T (p.Ala791Val)
c.2033C>T (p.Ala678Val)
c.2381C>T (p.Ala794Val)
c.2241+248C>T (n.2241+248C>T)
c.2205+248C>T (n.2205+248C>T)
c.2411C>T (p.Ala804Val)
c.2133+248C>T (n.2133+248C>T)
c.1680-5955C>T (n.1680-5955C>T)
c.2507C>T (p.Ala836Val)
c.2573C>T (p.Ala858Val)
c.2570C>T (p.Ala857Val)
c.2543C>T (p.Ala848Val)
c.2489C>T (p.Ala830Val)
c.2462C>T (p.Ala821Val)
c.2447C>T (p.Ala816Val)
c.2054C>T (p.Ala685Val)
c.2516C>T (p.Ala839Val)
c.2453C>T (p.Ala818Val)
c.2450C>T (p.Ala817Val)
c.2408C>T (p.Ala803Val)
c.1481C>T (p.Ala494Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
20g.63406798G>CCA409636957KCNQ2c.2519C>G (p.Ala840Gly)
c.2465C>G (p.Ala822Gly)
c.1862C>G (p.Ala621Gly)
c.2372C>G (p.Ala791Gly)
c.2033C>G (p.Ala678Gly)
c.2381C>G (p.Ala794Gly)
c.2241+248C>G (n.2241+248C>G)
c.2205+248C>G (n.2205+248C>G)
c.2411C>G (p.Ala804Gly)
c.2133+248C>G (n.2133+248C>G)
c.1680-5955C>G (n.1680-5955C>G)
c.2507C>G (p.Ala836Gly)
c.2573C>G (p.Ala858Gly)
c.2570C>G (p.Ala857Gly)
c.2543C>G (p.Ala848Gly)
c.2489C>G (p.Ala830Gly)
c.2462C>G (p.Ala821Gly)
c.2447C>G (p.Ala816Gly)
c.2054C>G (p.Ala685Gly)
c.2516C>G (p.Ala839Gly)
c.2453C>G (p.Ala818Gly)
c.2450C>G (p.Ala817Gly)
c.2408C>G (p.Ala803Gly)
c.1481C>G (p.Ala494Gly)
20g.63406798G=CA2374774252KCNQ2c.2519C= (p.Ala840=)
c.2465C= (p.Ala822=)
c.1862C= (p.Ala621=)
c.2372C= (p.Ala791=)
c.2033C= (p.Ala678=)
c.2381C= (p.Ala794=)
c.2241+248C= (n.2241+248C=)
c.2205+248C= (n.2205+248C=)
c.2411C= (p.Ala804=)
c.2133+248C= (n.2133+248C=)
c.1680-5955C= (n.1680-5955C=)
c.2507C= (p.Ala836=)
c.2573C= (p.Ala858=)
c.2570C= (p.Ala857=)
c.2543C= (p.Ala848=)
c.2489C= (p.Ala830=)
c.2462C= (p.Ala821=)
c.2447C= (p.Ala816=)
c.2054C= (p.Ala685=)
c.2516C= (p.Ala839=)
c.2453C= (p.Ala818=)
c.2450C= (p.Ala817=)
c.2408C= (p.Ala803=)
c.1481C= (p.Ala494=)
20g.63406798G>TCA409636960KCNQ2c.2519C>A (p.Ala840Glu)
c.2465C>A (p.Ala822Glu)
c.1862C>A (p.Ala621Glu)
c.2372C>A (p.Ala791Glu)
c.2033C>A (p.Ala678Glu)
c.2381C>A (p.Ala794Glu)
c.2241+248C>A (n.2241+248C>A)
c.2205+248C>A (n.2205+248C>A)
c.2411C>A (p.Ala804Glu)
c.2133+248C>A (n.2133+248C>A)
c.1680-5955C>A (n.1680-5955C>A)
c.2507C>A (p.Ala836Glu)
c.2573C>A (p.Ala858Glu)
c.2570C>A (p.Ala857Glu)
c.2543C>A (p.Ala848Glu)
c.2489C>A (p.Ala830Glu)
c.2462C>A (p.Ala821Glu)
c.2447C>A (p.Ala816Glu)
c.2054C>A (p.Ala685Glu)
c.2516C>A (p.Ala839Glu)
c.2453C>A (p.Ala818Glu)
c.2450C>A (p.Ala817Glu)
c.2408C>A (p.Ala803Glu)
c.1481C>A (p.Ala494Glu)
 dbSNP gnomAD v2 gnomAD v4
20g.63406799C>ACA409636962KCNQ2c.2518G>T (p.Ala840Ser)
c.2464G>T (p.Ala822Ser)
c.1861G>T (p.Ala621Ser)
c.2371G>T (p.Ala791Ser)
c.2032G>T (p.Ala678Ser)
c.2380G>T (p.Ala794Ser)
c.2241+247G>T (n.2241+247G>T)
c.2205+247G>T (n.2205+247G>T)
c.2410G>T (p.Ala804Ser)
c.2133+247G>T (n.2133+247G>T)
c.1680-5956G>T (n.1680-5956G>T)
c.2506G>T (p.Ala836Ser)
c.2572G>T (p.Ala858Ser)
c.2569G>T (p.Ala857Ser)
c.2542G>T (p.Ala848Ser)
c.2488G>T (p.Ala830Ser)
c.2461G>T (p.Ala821Ser)
c.2446G>T (p.Ala816Ser)
c.2053G>T (p.Ala685Ser)
c.2515G>T (p.Ala839Ser)
c.2452G>T (p.Ala818Ser)
c.2449G>T (p.Ala817Ser)
c.2407G>T (p.Ala803Ser)
c.1480G>T (p.Ala494Ser)
20g.63406799C=CA2374774253KCNQ2c.2518G= (p.Ala840=)
c.2464G= (p.Ala822=)
c.1861G= (p.Ala621=)
c.2371G= (p.Ala791=)
c.2032G= (p.Ala678=)
c.2380G= (p.Ala794=)
c.2241+247G= (n.2241+247G=)
c.2205+247G= (n.2205+247G=)
c.2410G= (p.Ala804=)
c.2133+247G= (n.2133+247G=)
c.1680-5956G= (n.1680-5956G=)
c.2506G= (p.Ala836=)
c.2572G= (p.Ala858=)
c.2569G= (p.Ala857=)
c.2542G= (p.Ala848=)
c.2488G= (p.Ala830=)
c.2461G= (p.Ala821=)
c.2446G= (p.Ala816=)
c.2053G= (p.Ala685=)
c.2515G= (p.Ala839=)
c.2452G= (p.Ala818=)
c.2449G= (p.Ala817=)
c.2407G= (p.Ala803=)
c.1480G= (p.Ala494=)
20g.63406799C>GCA9958073KCNQ2c.2518G>C (p.Ala840Pro)
c.2464G>C (p.Ala822Pro)
c.1861G>C (p.Ala621Pro)
c.2371G>C (p.Ala791Pro)
c.2032G>C (p.Ala678Pro)
c.2380G>C (p.Ala794Pro)
c.2241+247G>C (n.2241+247G>C)
c.2205+247G>C (n.2205+247G>C)
c.2410G>C (p.Ala804Pro)
c.2133+247G>C (n.2133+247G>C)
c.1680-5956G>C (n.1680-5956G>C)
c.2506G>C (p.Ala836Pro)
c.2572G>C (p.Ala858Pro)
c.2569G>C (p.Ala857Pro)
c.2542G>C (p.Ala848Pro)
c.2488G>C (p.Ala830Pro)
c.2461G>C (p.Ala821Pro)
c.2446G>C (p.Ala816Pro)
c.2053G>C (p.Ala685Pro)
c.2515G>C (p.Ala839Pro)
c.2452G>C (p.Ala818Pro)
c.2449G>C (p.Ala817Pro)
c.2407G>C (p.Ala803Pro)
c.1480G>C (p.Ala494Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
20g.63406799C>TCA9958074KCNQ2c.2518G>A (p.Ala840Thr)
c.2464G>A (p.Ala822Thr)
c.1861G>A (p.Ala621Thr)
c.2371G>A (p.Ala791Thr)
c.2032G>A (p.Ala678Thr)
c.2380G>A (p.Ala794Thr)
c.2241+247G>A (n.2241+247G>A)
c.2205+247G>A (n.2205+247G>A)
c.2410G>A (p.Ala804Thr)
c.2133+247G>A (n.2133+247G>A)
c.1680-5956G>A (n.1680-5956G>A)
c.2506G>A (p.Ala836Thr)
c.2572G>A (p.Ala858Thr)
c.2569G>A (p.Ala857Thr)
c.2542G>A (p.Ala848Thr)
c.2488G>A (p.Ala830Thr)
c.2461G>A (p.Ala821Thr)
c.2446G>A (p.Ala816Thr)
c.2053G>A (p.Ala685Thr)
c.2515G>A (p.Ala839Thr)
c.2452G>A (p.Ala818Thr)
c.2449G>A (p.Ala817Thr)
c.2407G>A (p.Ala803Thr)
c.1480G>A (p.Ala494Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406800G>ACA9958075KCNQ2c.2517C>T (p.Tyr839=)
c.2463C>T (p.Tyr821=)
c.1860C>T (p.Tyr620=)
c.2370C>T (p.Tyr790=)
c.2031C>T (p.Tyr677=)
c.2379C>T (p.Tyr793=)
c.2241+246C>T (n.2241+246C>T)
c.2205+246C>T (n.2205+246C>T)
c.2409C>T (p.Tyr803=)
c.2133+246C>T (n.2133+246C>T)
c.1680-5957C>T (n.1680-5957C>T)
c.2505C>T (p.Tyr835=)
c.2571C>T (p.Tyr857=)
c.2568C>T (p.Tyr856=)
c.2541C>T (p.Tyr847=)
c.2487C>T (p.Tyr829=)
c.2460C>T (p.Tyr820=)
c.2445C>T (p.Tyr815=)
c.2052C>T (p.Tyr684=)
c.2514C>T (p.Tyr838=)
c.2451C>T (p.Tyr817=)
c.2448C>T (p.Tyr816=)
c.2406C>T (p.Tyr802=)
c.1479C>T (p.Tyr493=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
20g.63406800G>CCA409636966KCNQ2c.2517C>G (p.Tyr839Ter)
c.2463C>G (p.Tyr821Ter)
c.1860C>G (p.Tyr620Ter)
c.2370C>G (p.Tyr790Ter)
c.2031C>G (p.Tyr677Ter)
c.2379C>G (p.Tyr793Ter)
c.2241+246C>G (n.2241+246C>G)
c.2205+246C>G (n.2205+246C>G)
c.2409C>G (p.Tyr803Ter)
c.2133+246C>G (n.2133+246C>G)
c.1680-5957C>G (n.1680-5957C>G)
c.2505C>G (p.Tyr835Ter)
c.2571C>G (p.Tyr857Ter)
c.2568C>G (p.Tyr856Ter)
c.2541C>G (p.Tyr847Ter)
c.2487C>G (p.Tyr829Ter)
c.2460C>G (p.Tyr820Ter)
c.2445C>G (p.Tyr815Ter)
c.2052C>G (p.Tyr684Ter)
c.2514C>G (p.Tyr838Ter)
c.2451C>G (p.Tyr817Ter)
c.2448C>G (p.Tyr816Ter)
c.2406C>G (p.Tyr802Ter)
c.1479C>G (p.Tyr493Ter)
 COSMIC COSMIC COSMIC
20g.63406800G=CA2374774254KCNQ2c.2517C= (p.Tyr839=)
c.2463C= (p.Tyr821=)
c.1860C= (p.Tyr620=)
c.2370C= (p.Tyr790=)
c.2031C= (p.Tyr677=)
c.2379C= (p.Tyr793=)
c.2241+246C= (n.2241+246C=)
c.2205+246C= (n.2205+246C=)
c.2409C= (p.Tyr803=)
c.2133+246C= (n.2133+246C=)
c.1680-5957C= (n.1680-5957C=)
c.2505C= (p.Tyr835=)
c.2571C= (p.Tyr857=)
c.2568C= (p.Tyr856=)
c.2541C= (p.Tyr847=)
c.2487C= (p.Tyr829=)
c.2460C= (p.Tyr820=)
c.2445C= (p.Tyr815=)
c.2052C= (p.Tyr684=)
c.2514C= (p.Tyr838=)
c.2451C= (p.Tyr817=)
c.2448C= (p.Tyr816=)
c.2406C= (p.Tyr802=)
c.1479C= (p.Tyr493=)
20g.63406800G>TCA409636965KCNQ2c.2517C>A (p.Tyr839Ter)
c.2463C>A (p.Tyr821Ter)
c.1860C>A (p.Tyr620Ter)
c.2370C>A (p.Tyr790Ter)
c.2031C>A (p.Tyr677Ter)
c.2379C>A (p.Tyr793Ter)
c.2241+246C>A (n.2241+246C>A)
c.2205+246C>A (n.2205+246C>A)
c.2409C>A (p.Tyr803Ter)
c.2133+246C>A (n.2133+246C>A)
c.1680-5957C>A (n.1680-5957C>A)
c.2505C>A (p.Tyr835Ter)
c.2571C>A (p.Tyr857Ter)
c.2568C>A (p.Tyr856Ter)
c.2541C>A (p.Tyr847Ter)
c.2487C>A (p.Tyr829Ter)
c.2460C>A (p.Tyr820Ter)
c.2445C>A (p.Tyr815Ter)
c.2052C>A (p.Tyr684Ter)
c.2514C>A (p.Tyr838Ter)
c.2451C>A (p.Tyr817Ter)
c.2448C>A (p.Tyr816Ter)
c.2406C>A (p.Tyr802Ter)
c.1479C>A (p.Tyr493Ter)
20g.63406801T>ACA409636969KCNQ2c.2516A>T (p.Tyr839Phe)
c.2462A>T (p.Tyr821Phe)
c.1859A>T (p.Tyr620Phe)
c.2369A>T (p.Tyr790Phe)
c.2030A>T (p.Tyr677Phe)
c.2378A>T (p.Tyr793Phe)
c.2241+245A>T (n.2241+245A>T)
c.2205+245A>T (n.2205+245A>T)
c.2408A>T (p.Tyr803Phe)
c.2133+245A>T (n.2133+245A>T)
c.1680-5958A>T (n.1680-5958A>T)
c.2504A>T (p.Tyr835Phe)
c.2570A>T (p.Tyr857Phe)
c.2567A>T (p.Tyr856Phe)
c.2540A>T (p.Tyr847Phe)
c.2486A>T (p.Tyr829Phe)
c.2459A>T (p.Tyr820Phe)
c.2444A>T (p.Tyr815Phe)
c.2051A>T (p.Tyr684Phe)
c.2513A>T (p.Tyr838Phe)
c.2450A>T (p.Tyr817Phe)
c.2447A>T (p.Tyr816Phe)
c.2405A>T (p.Tyr802Phe)
c.1478A>T (p.Tyr493Phe)
 gnomAD v4
20g.63406801T>CCA409636971KCNQ2c.2516A>G (p.Tyr839Cys)
c.2462A>G (p.Tyr821Cys)
c.1859A>G (p.Tyr620Cys)
c.2369A>G (p.Tyr790Cys)
c.2030A>G (p.Tyr677Cys)
c.2378A>G (p.Tyr793Cys)
c.2241+245A>G (n.2241+245A>G)
c.2205+245A>G (n.2205+245A>G)
c.2408A>G (p.Tyr803Cys)
c.2133+245A>G (n.2133+245A>G)
c.1680-5958A>G (n.1680-5958A>G)
c.2504A>G (p.Tyr835Cys)
c.2570A>G (p.Tyr857Cys)
c.2567A>G (p.Tyr856Cys)
c.2540A>G (p.Tyr847Cys)
c.2486A>G (p.Tyr829Cys)
c.2459A>G (p.Tyr820Cys)
c.2444A>G (p.Tyr815Cys)
c.2051A>G (p.Tyr684Cys)
c.2513A>G (p.Tyr838Cys)
c.2450A>G (p.Tyr817Cys)
c.2447A>G (p.Tyr816Cys)
c.2405A>G (p.Tyr802Cys)
c.1478A>G (p.Tyr493Cys)
 gnomAD v4
20g.63406801T>GCA409636972KCNQ2c.2516A>C (p.Tyr839Ser)
c.2462A>C (p.Tyr821Ser)
c.1859A>C (p.Tyr620Ser)
c.2369A>C (p.Tyr790Ser)
c.2030A>C (p.Tyr677Ser)
c.2378A>C (p.Tyr793Ser)
c.2241+245A>C (n.2241+245A>C)
c.2205+245A>C (n.2205+245A>C)
c.2408A>C (p.Tyr803Ser)
c.2133+245A>C (n.2133+245A>C)
c.1680-5958A>C (n.1680-5958A>C)
c.2504A>C (p.Tyr835Ser)
c.2570A>C (p.Tyr857Ser)
c.2567A>C (p.Tyr856Ser)
c.2540A>C (p.Tyr847Ser)
c.2486A>C (p.Tyr829Ser)
c.2459A>C (p.Tyr820Ser)
c.2444A>C (p.Tyr815Ser)
c.2051A>C (p.Tyr684Ser)
c.2513A>C (p.Tyr838Ser)
c.2450A>C (p.Tyr817Ser)
c.2447A>C (p.Tyr816Ser)
c.2405A>C (p.Tyr802Ser)
c.1478A>C (p.Tyr493Ser)
20g.63406802A>CCA409636975KCNQ2c.2515T>G (p.Tyr839Asp)
c.2461T>G (p.Tyr821Asp)
c.1858T>G (p.Tyr620Asp)
c.2368T>G (p.Tyr790Asp)
c.2029T>G (p.Tyr677Asp)
c.2377T>G (p.Tyr793Asp)
c.2241+244T>G (n.2241+244T>G)
c.2205+244T>G (n.2205+244T>G)
c.2407T>G (p.Tyr803Asp)
c.2133+244T>G (n.2133+244T>G)
c.1680-5959T>G (n.1680-5959T>G)
c.2503T>G (p.Tyr835Asp)
c.2569T>G (p.Tyr857Asp)
c.2566T>G (p.Tyr856Asp)
c.2539T>G (p.Tyr847Asp)
c.2485T>G (p.Tyr829Asp)
c.2458T>G (p.Tyr820Asp)
c.2443T>G (p.Tyr815Asp)
c.2050T>G (p.Tyr684Asp)
c.2512T>G (p.Tyr838Asp)
c.2449T>G (p.Tyr817Asp)
c.2446T>G (p.Tyr816Asp)
c.2404T>G (p.Tyr802Asp)
c.1477T>G (p.Tyr493Asp)
20g.63406802A>GCA409636977KCNQ2c.2515T>C (p.Tyr839His)
c.2461T>C (p.Tyr821His)
c.1858T>C (p.Tyr620His)
c.2368T>C (p.Tyr790His)
c.2029T>C (p.Tyr677His)
c.2377T>C (p.Tyr793His)
c.2241+244T>C (n.2241+244T>C)
c.2205+244T>C (n.2205+244T>C)
c.2407T>C (p.Tyr803His)
c.2133+244T>C (n.2133+244T>C)
c.1680-5959T>C (n.1680-5959T>C)
c.2503T>C (p.Tyr835His)
c.2569T>C (p.Tyr857His)
c.2566T>C (p.Tyr856His)
c.2539T>C (p.Tyr847His)
c.2485T>C (p.Tyr829His)
c.2458T>C (p.Tyr820His)
c.2443T>C (p.Tyr815His)
c.2050T>C (p.Tyr684His)
c.2512T>C (p.Tyr838His)
c.2449T>C (p.Tyr817His)
c.2446T>C (p.Tyr816His)
c.2404T>C (p.Tyr802His)
c.1477T>C (p.Tyr493His)
20g.63406802A>TCA409636978KCNQ2c.2515T>A (p.Tyr839Asn)
c.2461T>A (p.Tyr821Asn)
c.1858T>A (p.Tyr620Asn)
c.2368T>A (p.Tyr790Asn)
c.2029T>A (p.Tyr677Asn)
c.2377T>A (p.Tyr793Asn)
c.2241+244T>A (n.2241+244T>A)
c.2205+244T>A (n.2205+244T>A)
c.2407T>A (p.Tyr803Asn)
c.2133+244T>A (n.2133+244T>A)
c.1680-5959T>A (n.1680-5959T>A)
c.2503T>A (p.Tyr835Asn)
c.2569T>A (p.Tyr857Asn)
c.2566T>A (p.Tyr856Asn)
c.2539T>A (p.Tyr847Asn)
c.2485T>A (p.Tyr829Asn)
c.2458T>A (p.Tyr820Asn)
c.2443T>A (p.Tyr815Asn)
c.2050T>A (p.Tyr684Asn)
c.2512T>A (p.Tyr838Asn)
c.2449T>A (p.Tyr817Asn)
c.2446T>A (p.Tyr816Asn)
c.2404T>A (p.Tyr802Asn)
c.1477T>A (p.Tyr493Asn)
20g.63406803G>ACA511339327KCNQ2c.2514C>T (p.Cys838=)
c.2460C>T (p.Cys820=)
c.1857C>T (p.Cys619=)
c.2367C>T (p.Cys789=)
c.2028C>T (p.Cys676=)
c.2376C>T (p.Cys792=)
c.2241+243C>T (n.2241+243C>T)
c.2205+243C>T (n.2205+243C>T)
c.2406C>T (p.Cys802=)
c.2133+243C>T (n.2133+243C>T)
c.1680-5960C>T (n.1680-5960C>T)
c.2502C>T (p.Cys834=)
c.2568C>T (p.Cys856=)
c.2565C>T (p.Cys855=)
c.2538C>T (p.Cys846=)
c.2484C>T (p.Cys828=)
c.2457C>T (p.Cys819=)
c.2442C>T (p.Cys814=)
c.2049C>T (p.Cys683=)
c.2511C>T (p.Cys837=)
c.2448C>T (p.Cys816=)
c.2445C>T (p.Cys815=)
c.2403C>T (p.Cys801=)
c.1476C>T (p.Cys492=)
20g.63406803G>CCA409636979KCNQ2c.2514C>G (p.Cys838Trp)
c.2460C>G (p.Cys820Trp)
c.1857C>G (p.Cys619Trp)
c.2367C>G (p.Cys789Trp)
c.2028C>G (p.Cys676Trp)
c.2376C>G (p.Cys792Trp)
c.2241+243C>G (n.2241+243C>G)
c.2205+243C>G (n.2205+243C>G)
c.2406C>G (p.Cys802Trp)
c.2133+243C>G (n.2133+243C>G)
c.1680-5960C>G (n.1680-5960C>G)
c.2502C>G (p.Cys834Trp)
c.2568C>G (p.Cys856Trp)
c.2565C>G (p.Cys855Trp)
c.2538C>G (p.Cys846Trp)
c.2484C>G (p.Cys828Trp)
c.2457C>G (p.Cys819Trp)
c.2442C>G (p.Cys814Trp)
c.2049C>G (p.Cys683Trp)
c.2511C>G (p.Cys837Trp)
c.2448C>G (p.Cys816Trp)
c.2445C>G (p.Cys815Trp)
c.2403C>G (p.Cys801Trp)
c.1476C>G (p.Cys492Trp)
20g.63406803G>TCA409636980KCNQ2c.2514C>A (p.Cys838Ter)
c.2460C>A (p.Cys820Ter)
c.1857C>A (p.Cys619Ter)
c.2367C>A (p.Cys789Ter)
c.2028C>A (p.Cys676Ter)
c.2376C>A (p.Cys792Ter)
c.2241+243C>A (n.2241+243C>A)
c.2205+243C>A (n.2205+243C>A)
c.2406C>A (p.Cys802Ter)
c.2133+243C>A (n.2133+243C>A)
c.1680-5960C>A (n.1680-5960C>A)
c.2502C>A (p.Cys834Ter)
c.2568C>A (p.Cys856Ter)
c.2565C>A (p.Cys855Ter)
c.2538C>A (p.Cys846Ter)
c.2484C>A (p.Cys828Ter)
c.2457C>A (p.Cys819Ter)
c.2442C>A (p.Cys814Ter)
c.2049C>A (p.Cys683Ter)
c.2511C>A (p.Cys837Ter)
c.2448C>A (p.Cys816Ter)
c.2445C>A (p.Cys815Ter)
c.2403C>A (p.Cys801Ter)
c.1476C>A (p.Cys492Ter)
20g.63406804C>ACA409636982KCNQ2c.2513G>T (p.Cys838Phe)
c.2459G>T (p.Cys820Phe)
c.1856G>T (p.Cys619Phe)
c.2366G>T (p.Cys789Phe)
c.2027G>T (p.Cys676Phe)
c.2375G>T (p.Cys792Phe)
c.2241+242G>T (n.2241+242G>T)
c.2205+242G>T (n.2205+242G>T)
c.2405G>T (p.Cys802Phe)
c.2133+242G>T (n.2133+242G>T)
c.1680-5961G>T (n.1680-5961G>T)
c.2501G>T (p.Cys834Phe)
c.2567G>T (p.Cys856Phe)
c.2564G>T (p.Cys855Phe)
c.2537G>T (p.Cys846Phe)
c.2483G>T (p.Cys828Phe)
c.2456G>T (p.Cys819Phe)
c.2441G>T (p.Cys814Phe)
c.2048G>T (p.Cys683Phe)
c.2510G>T (p.Cys837Phe)
c.2447G>T (p.Cys816Phe)
c.2444G>T (p.Cys815Phe)
c.2402G>T (p.Cys801Phe)
c.1475G>T (p.Cys492Phe)
20g.63406804C>GCA409636984KCNQ2c.2513G>C (p.Cys838Ser)
c.2459G>C (p.Cys820Ser)
c.1856G>C (p.Cys619Ser)
c.2366G>C (p.Cys789Ser)
c.2027G>C (p.Cys676Ser)
c.2375G>C (p.Cys792Ser)
c.2241+242G>C (n.2241+242G>C)
c.2205+242G>C (n.2205+242G>C)
c.2405G>C (p.Cys802Ser)
c.2133+242G>C (n.2133+242G>C)
c.1680-5961G>C (n.1680-5961G>C)
c.2501G>C (p.Cys834Ser)
c.2567G>C (p.Cys856Ser)
c.2564G>C (p.Cys855Ser)
c.2537G>C (p.Cys846Ser)
c.2483G>C (p.Cys828Ser)
c.2456G>C (p.Cys819Ser)
c.2441G>C (p.Cys814Ser)
c.2048G>C (p.Cys683Ser)
c.2510G>C (p.Cys837Ser)
c.2447G>C (p.Cys816Ser)
c.2444G>C (p.Cys815Ser)
c.2402G>C (p.Cys801Ser)
c.1475G>C (p.Cys492Ser)
20g.63406804C>TCA409636985KCNQ2c.2513G>A (p.Cys838Tyr)
c.2459G>A (p.Cys820Tyr)
c.1856G>A (p.Cys619Tyr)
c.2366G>A (p.Cys789Tyr)
c.2027G>A (p.Cys676Tyr)
c.2375G>A (p.Cys792Tyr)
c.2241+242G>A (n.2241+242G>A)
c.2205+242G>A (n.2205+242G>A)
c.2405G>A (p.Cys802Tyr)
c.2133+242G>A (n.2133+242G>A)
c.1680-5961G>A (n.1680-5961G>A)
c.2501G>A (p.Cys834Tyr)
c.2567G>A (p.Cys856Tyr)
c.2564G>A (p.Cys855Tyr)
c.2537G>A (p.Cys846Tyr)
c.2483G>A (p.Cys828Tyr)
c.2456G>A (p.Cys819Tyr)
c.2441G>A (p.Cys814Tyr)
c.2048G>A (p.Cys683Tyr)
c.2510G>A (p.Cys837Tyr)
c.2447G>A (p.Cys816Tyr)
c.2444G>A (p.Cys815Tyr)
c.2402G>A (p.Cys801Tyr)
c.1475G>A (p.Cys492Tyr)
20g.63406805A>CCA409636991KCNQ2c.2512T>G (p.Cys838Gly)
c.2458T>G (p.Cys820Gly)
c.1855T>G (p.Cys619Gly)
c.2365T>G (p.Cys789Gly)
c.2026T>G (p.Cys676Gly)
c.2374T>G (p.Cys792Gly)
c.2241+241T>G (n.2241+241T>G)
c.2205+241T>G (n.2205+241T>G)
c.2404T>G (p.Cys802Gly)
c.2133+241T>G (n.2133+241T>G)
c.1680-5962T>G (n.1680-5962T>G)
c.2500T>G (p.Cys834Gly)
c.2566T>G (p.Cys856Gly)
c.2563T>G (p.Cys855Gly)
c.2536T>G (p.Cys846Gly)
c.2482T>G (p.Cys828Gly)
c.2455T>G (p.Cys819Gly)
c.2440T>G (p.Cys814Gly)
c.2047T>G (p.Cys683Gly)
c.2509T>G (p.Cys837Gly)
c.2446T>G (p.Cys816Gly)
c.2443T>G (p.Cys815Gly)
c.2401T>G (p.Cys801Gly)
c.1474T>G (p.Cys492Gly)
20g.63406805A>GCA409636990KCNQ2c.2512T>C (p.Cys838Arg)
c.2458T>C (p.Cys820Arg)
c.1855T>C (p.Cys619Arg)
c.2365T>C (p.Cys789Arg)
c.2026T>C (p.Cys676Arg)
c.2374T>C (p.Cys792Arg)
c.2241+241T>C (n.2241+241T>C)
c.2205+241T>C (n.2205+241T>C)
c.2404T>C (p.Cys802Arg)
c.2133+241T>C (n.2133+241T>C)
c.1680-5962T>C (n.1680-5962T>C)
c.2500T>C (p.Cys834Arg)
c.2566T>C (p.Cys856Arg)
c.2563T>C (p.Cys855Arg)
c.2536T>C (p.Cys846Arg)
c.2482T>C (p.Cys828Arg)
c.2455T>C (p.Cys819Arg)
c.2440T>C (p.Cys814Arg)
c.2047T>C (p.Cys683Arg)
c.2509T>C (p.Cys837Arg)
c.2446T>C (p.Cys816Arg)
c.2443T>C (p.Cys815Arg)
c.2401T>C (p.Cys801Arg)
c.1474T>C (p.Cys492Arg)
20g.63406805A>TCA409636988KCNQ2c.2512T>A (p.Cys838Ser)
c.2458T>A (p.Cys820Ser)
c.1855T>A (p.Cys619Ser)
c.2365T>A (p.Cys789Ser)
c.2026T>A (p.Cys676Ser)
c.2374T>A (p.Cys792Ser)
c.2241+241T>A (n.2241+241T>A)
c.2205+241T>A (n.2205+241T>A)
c.2404T>A (p.Cys802Ser)
c.2133+241T>A (n.2133+241T>A)
c.1680-5962T>A (n.1680-5962T>A)
c.2500T>A (p.Cys834Ser)
c.2566T>A (p.Cys856Ser)
c.2563T>A (p.Cys855Ser)
c.2536T>A (p.Cys846Ser)
c.2482T>A (p.Cys828Ser)
c.2455T>A (p.Cys819Ser)
c.2440T>A (p.Cys814Ser)
c.2047T>A (p.Cys683Ser)
c.2509T>A (p.Cys837Ser)
c.2446T>A (p.Cys816Ser)
c.2443T>A (p.Cys815Ser)
c.2401T>A (p.Cys801Ser)
c.1474T>A (p.Cys492Ser)
20g.63406806G>ACA511339330KCNQ2c.2511C>T (p.Ser837=)
c.2457C>T (p.Ser819=)
c.1854C>T (p.Ser618=)
c.2364C>T (p.Ser788=)
c.2025C>T (p.Ser675=)
c.2373C>T (p.Ser791=)
c.2241+240C>T (n.2241+240C>T)
c.2205+240C>T (n.2205+240C>T)
c.2403C>T (p.Ser801=)
c.2133+240C>T (n.2133+240C>T)
c.1680-5963C>T (n.1680-5963C>T)
c.2499C>T (p.Ser833=)
c.2565C>T (p.Ser855=)
c.2562C>T (p.Ser854=)
c.2535C>T (p.Ser845=)
c.2481C>T (p.Ser827=)
c.2454C>T (p.Ser818=)
c.2439C>T (p.Ser813=)
c.2046C>T (p.Ser682=)
c.2508C>T (p.Ser836=)
c.2445C>T (p.Ser815=)
c.2442C>T (p.Ser814=)
c.2400C>T (p.Ser800=)
c.1473C>T (p.Ser491=)
20g.63406806G>CCA409636994KCNQ2c.2511C>G (p.Ser837Arg)
c.2457C>G (p.Ser819Arg)
c.1854C>G (p.Ser618Arg)
c.2364C>G (p.Ser788Arg)
c.2025C>G (p.Ser675Arg)
c.2373C>G (p.Ser791Arg)
c.2241+240C>G (n.2241+240C>G)
c.2205+240C>G (n.2205+240C>G)
c.2403C>G (p.Ser801Arg)
c.2133+240C>G (n.2133+240C>G)
c.1680-5963C>G (n.1680-5963C>G)
c.2499C>G (p.Ser833Arg)
c.2565C>G (p.Ser855Arg)
c.2562C>G (p.Ser854Arg)
c.2535C>G (p.Ser845Arg)
c.2481C>G (p.Ser827Arg)
c.2454C>G (p.Ser818Arg)
c.2439C>G (p.Ser813Arg)
c.2046C>G (p.Ser682Arg)
c.2508C>G (p.Ser836Arg)
c.2445C>G (p.Ser815Arg)
c.2442C>G (p.Ser814Arg)
c.2400C>G (p.Ser800Arg)
c.1473C>G (p.Ser491Arg)
20g.63406806G>TCA409636996KCNQ2c.2511C>A (p.Ser837Arg)
c.2457C>A (p.Ser819Arg)
c.1854C>A (p.Ser618Arg)
c.2364C>A (p.Ser788Arg)
c.2025C>A (p.Ser675Arg)
c.2373C>A (p.Ser791Arg)
c.2241+240C>A (n.2241+240C>A)
c.2205+240C>A (n.2205+240C>A)
c.2403C>A (p.Ser801Arg)
c.2133+240C>A (n.2133+240C>A)
c.1680-5963C>A (n.1680-5963C>A)
c.2499C>A (p.Ser833Arg)
c.2565C>A (p.Ser855Arg)
c.2562C>A (p.Ser854Arg)
c.2535C>A (p.Ser845Arg)
c.2481C>A (p.Ser827Arg)
c.2454C>A (p.Ser818Arg)
c.2439C>A (p.Ser813Arg)
c.2046C>A (p.Ser682Arg)
c.2508C>A (p.Ser836Arg)
c.2445C>A (p.Ser815Arg)
c.2442C>A (p.Ser814Arg)
c.2400C>A (p.Ser800Arg)
c.1473C>A (p.Ser491Arg)
 gnomAD v4

Number of alleles fetched