Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.135784759delCA2579511327KCNT1c.3028-2del (n.3028-2del)
c.2869-2del (n.2869-2del)
c.2776-2del (n.2776-2del)
c.2785-2del (n.2785-2del)
c.2929-2del (n.2929-2del)
c.*2638-2del (n.*2638-2del)
c.2911-2del (n.2911-2del)
c.2971-2del (n.2971-2del)
c.2965-2del (n.2965-2del)
n.2847-2del
c.2893-2del (n.2893-2del)
c.2863-2del (n.2863-2del)
c.894-2del (n.894-2del)
c.3163-2del (n.3163-2del)
c.3172-2del (n.3172-2del)
c.2518-2del (n.2518-2del)
c.2962-2del (n.2962-2del)
9g.135784759A>CCA375518019KCNT1c.3028-2A>C (n.3028-2A>C)
c.2869-2A>C (n.2869-2A>C)
c.2776-2A>C (n.2776-2A>C)
c.2785-2A>C (n.2785-2A>C)
c.2929-2A>C (n.2929-2A>C)
c.*2638-2A>C (n.*2638-2A>C)
c.2911-2A>C (n.2911-2A>C)
c.2971-2A>C (n.2971-2A>C)
c.2965-2A>C (n.2965-2A>C)
n.2847-2A>C
c.2893-2A>C (n.2893-2A>C)
c.2863-2A>C (n.2863-2A>C)
c.894-2A>C (n.894-2A>C)
c.3163-2A>C (n.3163-2A>C)
c.3172-2A>C (n.3172-2A>C)
c.2518-2A>C (n.2518-2A>C)
c.2962-2A>C (n.2962-2A>C)
9g.135784759A>GCA375518020KCNT1c.3028-2A>G (n.3028-2A>G)
c.2869-2A>G (n.2869-2A>G)
c.2776-2A>G (n.2776-2A>G)
c.2785-2A>G (n.2785-2A>G)
c.2929-2A>G (n.2929-2A>G)
c.*2638-2A>G (n.*2638-2A>G)
c.2911-2A>G (n.2911-2A>G)
c.2971-2A>G (n.2971-2A>G)
c.2965-2A>G (n.2965-2A>G)
n.2847-2A>G
c.2893-2A>G (n.2893-2A>G)
c.2863-2A>G (n.2863-2A>G)
c.894-2A>G (n.894-2A>G)
c.3163-2A>G (n.3163-2A>G)
c.3172-2A>G (n.3172-2A>G)
c.2518-2A>G (n.2518-2A>G)
c.2962-2A>G (n.2962-2A>G)
9g.135784759A>TCA375518021KCNT1c.3028-2A>T (n.3028-2A>T)
c.2869-2A>T (n.2869-2A>T)
c.2776-2A>T (n.2776-2A>T)
c.2785-2A>T (n.2785-2A>T)
c.2929-2A>T (n.2929-2A>T)
c.*2638-2A>T (n.*2638-2A>T)
c.2911-2A>T (n.2911-2A>T)
c.2971-2A>T (n.2971-2A>T)
c.2965-2A>T (n.2965-2A>T)
n.2847-2A>T
c.2893-2A>T (n.2893-2A>T)
c.2863-2A>T (n.2863-2A>T)
c.894-2A>T (n.894-2A>T)
c.3163-2A>T (n.3163-2A>T)
c.3172-2A>T (n.3172-2A>T)
c.2518-2A>T (n.2518-2A>T)
c.2962-2A>T (n.2962-2A>T)
 ClinVar dbSNP
9g.135784760G>ACA375518022KCNT1c.3028-1G>A (n.3028-1G>A)
c.2869-1G>A (n.2869-1G>A)
c.2776-1G>A (n.2776-1G>A)
c.2785-1G>A (n.2785-1G>A)
c.2929-1G>A (n.2929-1G>A)
c.*2638-1G>A (n.*2638-1G>A)
c.2911-1G>A (n.2911-1G>A)
c.2971-1G>A (n.2971-1G>A)
c.2965-1G>A (n.2965-1G>A)
n.2847-1G>A
c.2893-1G>A (n.2893-1G>A)
c.2863-1G>A (n.2863-1G>A)
c.894-1G>A (n.894-1G>A)
c.3163-1G>A (n.3163-1G>A)
c.3172-1G>A (n.3172-1G>A)
c.2518-1G>A (n.2518-1G>A)
c.2962-1G>A (n.2962-1G>A)
 dbSNP gnomAD v3 gnomAD v4
9g.135784760G>CCA375518023KCNT1c.3028-1G>C (n.3028-1G>C)
c.2869-1G>C (n.2869-1G>C)
c.2776-1G>C (n.2776-1G>C)
c.2785-1G>C (n.2785-1G>C)
c.2929-1G>C (n.2929-1G>C)
c.*2638-1G>C (n.*2638-1G>C)
c.2911-1G>C (n.2911-1G>C)
c.2971-1G>C (n.2971-1G>C)
c.2965-1G>C (n.2965-1G>C)
n.2847-1G>C
c.2893-1G>C (n.2893-1G>C)
c.2863-1G>C (n.2863-1G>C)
c.894-1G>C (n.894-1G>C)
c.3163-1G>C (n.3163-1G>C)
c.3172-1G>C (n.3172-1G>C)
c.2518-1G>C (n.2518-1G>C)
c.2962-1G>C (n.2962-1G>C)
9g.135784760G=CA1883884204KCNT1c.3028-1G= (n.3028-1G=)
c.2869-1G= (n.2869-1G=)
c.2776-1G= (n.2776-1G=)
c.2785-1G= (n.2785-1G=)
c.2929-1G= (n.2929-1G=)
c.*2638-1G= (n.*2638-1G=)
c.2911-1G= (n.2911-1G=)
c.2971-1G= (n.2971-1G=)
c.2965-1G= (n.2965-1G=)
n.2847-1G=
c.2893-1G= (n.2893-1G=)
c.2863-1G= (n.2863-1G=)
c.894-1G= (n.894-1G=)
c.3163-1G= (n.3163-1G=)
c.3172-1G= (n.3172-1G=)
c.2518-1G= (n.2518-1G=)
c.2962-1G= (n.2962-1G=)
9g.135784760G>TCA375518024KCNT1c.3028-1G>T (n.3028-1G>T)
c.2869-1G>T (n.2869-1G>T)
c.2776-1G>T (n.2776-1G>T)
c.2785-1G>T (n.2785-1G>T)
c.2929-1G>T (n.2929-1G>T)
c.*2638-1G>T (n.*2638-1G>T)
c.2911-1G>T (n.2911-1G>T)
c.2971-1G>T (n.2971-1G>T)
c.2965-1G>T (n.2965-1G>T)
n.2847-1G>T
c.2893-1G>T (n.2893-1G>T)
c.2863-1G>T (n.2863-1G>T)
c.894-1G>T (n.894-1G>T)
c.3163-1G>T (n.3163-1G>T)
c.3172-1G>T (n.3172-1G>T)
c.2518-1G>T (n.2518-1G>T)
c.2962-1G>T (n.2962-1G>T)
9g.135784761A>CCA375518025KCNT1c.3028A>C (p.Met1010Leu)
c.2869A>C (p.Met957Leu)
c.2776A>C (p.Met926Leu)
c.2785A>C (p.Met929Leu)
c.2929A>C (p.Met977Leu)
c.*2638A>C (n.*2638A>C)
c.2911A>C (p.Met971Leu)
c.2971A>C (p.Met991Leu)
c.2965A>C (p.Met989Leu)
n.2847A>C
c.2893A>C (p.Met965Leu)
c.2863A>C (p.Met955Leu)
c.894A>C (n.894A>C)
c.3163A>C (p.Met1055Leu)
c.3172A>C (p.Met1058Leu)
c.2518A>C (p.Met840Leu)
c.2962A>C (p.Met988Leu)
 gnomAD v4
9g.135784761A>GCA375518026KCNT1c.3028A>G (p.Met1010Val)
c.2869A>G (p.Met957Val)
c.2776A>G (p.Met926Val)
c.2785A>G (p.Met929Val)
c.2929A>G (p.Met977Val)
c.*2638A>G (n.*2638A>G)
c.2911A>G (p.Met971Val)
c.2971A>G (p.Met991Val)
c.2965A>G (p.Met989Val)
n.2847A>G
c.2893A>G (p.Met965Val)
c.2863A>G (p.Met955Val)
c.894A>G (n.894A>G)
c.3163A>G (p.Met1055Val)
c.3172A>G (p.Met1058Val)
c.2518A>G (p.Met840Val)
c.2962A>G (p.Met988Val)
9g.135784761A>TCA375518027KCNT1c.3028A>T (p.Met1010Leu)
c.2869A>T (p.Met957Leu)
c.2776A>T (p.Met926Leu)
c.2785A>T (p.Met929Leu)
c.2929A>T (p.Met977Leu)
c.*2638A>T (n.*2638A>T)
c.2911A>T (p.Met971Leu)
c.2971A>T (p.Met991Leu)
c.2965A>T (p.Met989Leu)
n.2847A>T
c.2893A>T (p.Met965Leu)
c.2863A>T (p.Met955Leu)
c.894A>T (n.894A>T)
c.3163A>T (p.Met1055Leu)
c.3172A>T (p.Met1058Leu)
c.2518A>T (p.Met840Leu)
c.2962A>T (p.Met988Leu)
9g.135784762T>ACA375518028KCNT1c.3029T>A (p.Met1010Lys)
c.2870T>A (p.Met957Lys)
c.2777T>A (p.Met926Lys)
c.2786T>A (p.Met929Lys)
c.2930T>A (p.Met977Lys)
c.*2639T>A (n.*2639T>A)
c.2912T>A (p.Met971Lys)
c.2972T>A (p.Met991Lys)
c.2966T>A (p.Met989Lys)
n.2848T>A
c.2894T>A (p.Met965Lys)
c.2864T>A (p.Met955Lys)
c.895T>A (n.895T>A)
c.3164T>A (p.Met1055Lys)
c.3173T>A (p.Met1058Lys)
c.2519T>A (p.Met840Lys)
c.2963T>A (p.Met988Lys)
9g.135784762T>CCA375518029KCNT1c.3029T>C (p.Met1010Thr)
c.2870T>C (p.Met957Thr)
c.2777T>C (p.Met926Thr)
c.2786T>C (p.Met929Thr)
c.2930T>C (p.Met977Thr)
c.*2639T>C (n.*2639T>C)
c.2912T>C (p.Met971Thr)
c.2972T>C (p.Met991Thr)
c.2966T>C (p.Met989Thr)
n.2848T>C
c.2894T>C (p.Met965Thr)
c.2864T>C (p.Met955Thr)
c.895T>C (n.895T>C)
c.3164T>C (p.Met1055Thr)
c.3173T>C (p.Met1058Thr)
c.2519T>C (p.Met840Thr)
c.2963T>C (p.Met988Thr)
9g.135784762T>GCA375518030KCNT1c.3029T>G (p.Met1010Arg)
c.2870T>G (p.Met957Arg)
c.2777T>G (p.Met926Arg)
c.2786T>G (p.Met929Arg)
c.2930T>G (p.Met977Arg)
c.*2639T>G (n.*2639T>G)
c.2912T>G (p.Met971Arg)
c.2972T>G (p.Met991Arg)
c.2966T>G (p.Met989Arg)
n.2848T>G
c.2894T>G (p.Met965Arg)
c.2864T>G (p.Met955Arg)
c.895T>G (n.895T>G)
c.3164T>G (p.Met1055Arg)
c.3173T>G (p.Met1058Arg)
c.2519T>G (p.Met840Arg)
c.2963T>G (p.Met988Arg)
9g.135784763G>ACA375518031KCNT1c.3030G>A (p.Met1010Ile)
c.2871G>A (p.Met957Ile)
c.2778G>A (p.Met926Ile)
c.2787G>A (p.Met929Ile)
c.2931G>A (p.Met977Ile)
c.*2640G>A (n.*2640G>A)
c.2913G>A (p.Met971Ile)
c.2973G>A (p.Met991Ile)
c.2967G>A (p.Met989Ile)
n.2849G>A
c.2895G>A (p.Met965Ile)
c.2865G>A (p.Met955Ile)
c.896G>A (n.896G>A)
c.3165G>A (p.Met1055Ile)
c.3174G>A (p.Met1058Ile)
c.2520G>A (p.Met840Ile)
c.2964G>A (p.Met988Ile)
 gnomAD v4
9g.135784763G>CCA375518033KCNT1c.3030G>C (p.Met1010Ile)
c.2871G>C (p.Met957Ile)
c.2778G>C (p.Met926Ile)
c.2787G>C (p.Met929Ile)
c.2931G>C (p.Met977Ile)
c.*2640G>C (n.*2640G>C)
c.2913G>C (p.Met971Ile)
c.2973G>C (p.Met991Ile)
c.2967G>C (p.Met989Ile)
n.2849G>C
c.2895G>C (p.Met965Ile)
c.2865G>C (p.Met955Ile)
c.896G>C (n.896G>C)
c.3165G>C (p.Met1055Ile)
c.3174G>C (p.Met1058Ile)
c.2520G>C (p.Met840Ile)
c.2964G>C (p.Met988Ile)
9g.135784763G>TCA375518032KCNT1c.3030G>T (p.Met1010Ile)
c.2871G>T (p.Met957Ile)
c.2778G>T (p.Met926Ile)
c.2787G>T (p.Met929Ile)
c.2931G>T (p.Met977Ile)
c.*2640G>T (n.*2640G>T)
c.2913G>T (p.Met971Ile)
c.2973G>T (p.Met991Ile)
c.2967G>T (p.Met989Ile)
n.2849G>T
c.2895G>T (p.Met965Ile)
c.2865G>T (p.Met955Ile)
c.896G>T (n.896G>T)
c.3165G>T (p.Met1055Ile)
c.3174G>T (p.Met1058Ile)
c.2520G>T (p.Met840Ile)
c.2964G>T (p.Met988Ile)
9g.135784764A>CCA375518034KCNT1c.3031A>C (p.Lys1011Gln)
c.2872A>C (p.Lys958Gln)
c.2779A>C (p.Lys927Gln)
c.2788A>C (p.Lys930Gln)
c.2932A>C (p.Lys978Gln)
c.*2641A>C (n.*2641A>C)
c.2914A>C (p.Lys972Gln)
c.2974A>C (p.Lys992Gln)
c.2968A>C (p.Lys990Gln)
n.2850A>C
c.2896A>C (p.Lys966Gln)
c.2866A>C (p.Lys956Gln)
c.897A>C (n.897A>C)
c.3166A>C (p.Lys1056Gln)
c.3175A>C (p.Lys1059Gln)
c.2521A>C (p.Lys841Gln)
c.2965A>C (p.Lys989Gln)
9g.135784764A>GCA375518035KCNT1c.3031A>G (p.Lys1011Glu)
c.2872A>G (p.Lys958Glu)
c.2779A>G (p.Lys927Glu)
c.2788A>G (p.Lys930Glu)
c.2932A>G (p.Lys978Glu)
c.*2641A>G (n.*2641A>G)
c.2914A>G (p.Lys972Glu)
c.2974A>G (p.Lys992Glu)
c.2968A>G (p.Lys990Glu)
n.2850A>G
c.2896A>G (p.Lys966Glu)
c.2866A>G (p.Lys956Glu)
c.897A>G (n.897A>G)
c.3166A>G (p.Lys1056Glu)
c.3175A>G (p.Lys1059Glu)
c.2521A>G (p.Lys841Glu)
c.2965A>G (p.Lys989Glu)
9g.135784764A>TCA375518036KCNT1c.3031A>T (p.Lys1011Ter)
c.2872A>T (p.Lys958Ter)
c.2779A>T (p.Lys927Ter)
c.2788A>T (p.Lys930Ter)
c.2932A>T (p.Lys978Ter)
c.*2641A>T (n.*2641A>T)
c.2914A>T (p.Lys972Ter)
c.2974A>T (p.Lys992Ter)
c.2968A>T (p.Lys990Ter)
n.2850A>T
c.2896A>T (p.Lys966Ter)
c.2866A>T (p.Lys956Ter)
c.897A>T (n.897A>T)
c.3166A>T (p.Lys1056Ter)
c.3175A>T (p.Lys1059Ter)
c.2521A>T (p.Lys841Ter)
c.2965A>T (p.Lys989Ter)
9g.135784765A>CCA375518037KCNT1c.3032A>C (p.Lys1011Thr)
c.2873A>C (p.Lys958Thr)
c.2780A>C (p.Lys927Thr)
c.2789A>C (p.Lys930Thr)
c.2933A>C (p.Lys978Thr)
c.*2642A>C (n.*2642A>C)
c.2915A>C (p.Lys972Thr)
c.2975A>C (p.Lys992Thr)
c.2969A>C (p.Lys990Thr)
n.2851A>C
c.2897A>C (p.Lys966Thr)
c.2867A>C (p.Lys956Thr)
c.898A>C (n.898A>C)
c.3167A>C (p.Lys1056Thr)
c.3176A>C (p.Lys1059Thr)
c.2522A>C (p.Lys841Thr)
c.2966A>C (p.Lys989Thr)
9g.135784765A>GCA375518038KCNT1c.3032A>G (p.Lys1011Arg)
c.2873A>G (p.Lys958Arg)
c.2780A>G (p.Lys927Arg)
c.2789A>G (p.Lys930Arg)
c.2933A>G (p.Lys978Arg)
c.*2642A>G (n.*2642A>G)
c.2915A>G (p.Lys972Arg)
c.2975A>G (p.Lys992Arg)
c.2969A>G (p.Lys990Arg)
n.2851A>G
c.2897A>G (p.Lys966Arg)
c.2867A>G (p.Lys956Arg)
c.898A>G (n.898A>G)
c.3167A>G (p.Lys1056Arg)
c.3176A>G (p.Lys1059Arg)
c.2522A>G (p.Lys841Arg)
c.2966A>G (p.Lys989Arg)
9g.135784765A>TCA375518039KCNT1c.3032A>T (p.Lys1011Ile)
c.2873A>T (p.Lys958Ile)
c.2780A>T (p.Lys927Ile)
c.2789A>T (p.Lys930Ile)
c.2933A>T (p.Lys978Ile)
c.*2642A>T (n.*2642A>T)
c.2915A>T (p.Lys972Ile)
c.2975A>T (p.Lys992Ile)
c.2969A>T (p.Lys990Ile)
n.2851A>T
c.2897A>T (p.Lys966Ile)
c.2867A>T (p.Lys956Ile)
c.898A>T (n.898A>T)
c.3167A>T (p.Lys1056Ile)
c.3176A>T (p.Lys1059Ile)
c.2522A>T (p.Lys841Ile)
c.2966A>T (p.Lys989Ile)
9g.135784766A>CCA375518040KCNT1c.3033A>C (p.Lys1011Asn)
c.2874A>C (p.Lys958Asn)
c.2781A>C (p.Lys927Asn)
c.2790A>C (p.Lys930Asn)
c.2934A>C (p.Lys978Asn)
c.*2643A>C (n.*2643A>C)
c.2916A>C (p.Lys972Asn)
c.2976A>C (p.Lys992Asn)
c.2970A>C (p.Lys990Asn)
n.2852A>C
c.2898A>C (p.Lys966Asn)
c.2868A>C (p.Lys956Asn)
c.899A>C (n.899A>C)
c.3168A>C (p.Lys1056Asn)
c.3177A>C (p.Lys1059Asn)
c.2523A>C (p.Lys841Asn)
c.2967A>C (p.Lys989Asn)
 gnomAD v4
9g.135784766A>GCA467820902KCNT1c.3033A>G (p.Lys1011=)
c.2874A>G (p.Lys958=)
c.2781A>G (p.Lys927=)
c.2790A>G (p.Lys930=)
c.2934A>G (p.Lys978=)
c.*2643A>G (n.*2643A>G)
c.2916A>G (p.Lys972=)
c.2976A>G (p.Lys992=)
c.2970A>G (p.Lys990=)
n.2852A>G
c.2898A>G (p.Lys966=)
c.2868A>G (p.Lys956=)
c.899A>G (n.899A>G)
c.3168A>G (p.Lys1056=)
c.3177A>G (p.Lys1059=)
c.2523A>G (p.Lys841=)
c.2967A>G (p.Lys989=)
9g.135784766A>TCA375518041KCNT1c.3033A>T (p.Lys1011Asn)
c.2874A>T (p.Lys958Asn)
c.2781A>T (p.Lys927Asn)
c.2790A>T (p.Lys930Asn)
c.2934A>T (p.Lys978Asn)
c.*2643A>T (n.*2643A>T)
c.2916A>T (p.Lys972Asn)
c.2976A>T (p.Lys992Asn)
c.2970A>T (p.Lys990Asn)
n.2852A>T
c.2898A>T (p.Lys966Asn)
c.2868A>T (p.Lys956Asn)
c.899A>T (n.899A>T)
c.3168A>T (p.Lys1056Asn)
c.3177A>T (p.Lys1059Asn)
c.2523A>T (p.Lys841Asn)
c.2967A>T (p.Lys989Asn)
9g.135784767A>CCA375518042KCNT1c.3034A>C (p.Ile1012Leu)
c.2875A>C (p.Ile959Leu)
c.2782A>C (p.Ile928Leu)
c.2791A>C (p.Ile931Leu)
c.2935A>C (p.Ile979Leu)
c.*2644A>C (n.*2644A>C)
c.2917A>C (p.Ile973Leu)
c.2977A>C (p.Ile993Leu)
c.2971A>C (p.Ile991Leu)
n.2853A>C
c.2899A>C (p.Ile967Leu)
c.2869A>C (p.Ile957Leu)
c.900A>C (n.900A>C)
c.3169A>C (p.Ile1057Leu)
c.3178A>C (p.Ile1060Leu)
c.2524A>C (p.Ile842Leu)
c.2968A>C (p.Ile990Leu)
9g.135784767A>GCA375518043KCNT1c.3034A>G (p.Ile1012Val)
c.2875A>G (p.Ile959Val)
c.2782A>G (p.Ile928Val)
c.2791A>G (p.Ile931Val)
c.2935A>G (p.Ile979Val)
c.*2644A>G (n.*2644A>G)
c.2917A>G (p.Ile973Val)
c.2977A>G (p.Ile993Val)
c.2971A>G (p.Ile991Val)
n.2853A>G
c.2899A>G (p.Ile967Val)
c.2869A>G (p.Ile957Val)
c.900A>G (n.900A>G)
c.3169A>G (p.Ile1057Val)
c.3178A>G (p.Ile1060Val)
c.2524A>G (p.Ile842Val)
c.2968A>G (p.Ile990Val)
9g.135784767A>TCA375518044KCNT1c.3034A>T (p.Ile1012Phe)
c.2875A>T (p.Ile959Phe)
c.2782A>T (p.Ile928Phe)
c.2791A>T (p.Ile931Phe)
c.2935A>T (p.Ile979Phe)
c.*2644A>T (n.*2644A>T)
c.2917A>T (p.Ile973Phe)
c.2977A>T (p.Ile993Phe)
c.2971A>T (p.Ile991Phe)
n.2853A>T
c.2899A>T (p.Ile967Phe)
c.2869A>T (p.Ile957Phe)
c.900A>T (n.900A>T)
c.3169A>T (p.Ile1057Phe)
c.3178A>T (p.Ile1060Phe)
c.2524A>T (p.Ile842Phe)
c.2968A>T (p.Ile990Phe)
9g.135784768T>ACA375518047KCNT1c.3035T>A (p.Ile1012Asn)
c.2876T>A (p.Ile959Asn)
c.2783T>A (p.Ile928Asn)
c.2792T>A (p.Ile931Asn)
c.2936T>A (p.Ile979Asn)
c.*2645T>A (n.*2645T>A)
c.2918T>A (p.Ile973Asn)
c.2978T>A (p.Ile993Asn)
c.2972T>A (p.Ile991Asn)
n.2854T>A
c.2900T>A (p.Ile967Asn)
c.2870T>A (p.Ile957Asn)
c.901T>A (n.901T>A)
c.3170T>A (p.Ile1057Asn)
c.3179T>A (p.Ile1060Asn)
c.2525T>A (p.Ile842Asn)
c.2969T>A (p.Ile990Asn)
9g.135784768T>CCA375518046KCNT1c.3035T>C (p.Ile1012Thr)
c.2876T>C (p.Ile959Thr)
c.2783T>C (p.Ile928Thr)
c.2792T>C (p.Ile931Thr)
c.2936T>C (p.Ile979Thr)
c.*2645T>C (n.*2645T>C)
c.2918T>C (p.Ile973Thr)
c.2978T>C (p.Ile993Thr)
c.2972T>C (p.Ile991Thr)
n.2854T>C
c.2900T>C (p.Ile967Thr)
c.2870T>C (p.Ile957Thr)
c.901T>C (n.901T>C)
c.3170T>C (p.Ile1057Thr)
c.3179T>C (p.Ile1060Thr)
c.2525T>C (p.Ile842Thr)
c.2969T>C (p.Ile990Thr)
9g.135784768T>GCA375518045KCNT1c.3035T>G (p.Ile1012Ser)
c.2876T>G (p.Ile959Ser)
c.2783T>G (p.Ile928Ser)
c.2792T>G (p.Ile931Ser)
c.2936T>G (p.Ile979Ser)
c.*2645T>G (n.*2645T>G)
c.2918T>G (p.Ile973Ser)
c.2978T>G (p.Ile993Ser)
c.2972T>G (p.Ile991Ser)
n.2854T>G
c.2900T>G (p.Ile967Ser)
c.2870T>G (p.Ile957Ser)
c.901T>G (n.901T>G)
c.3170T>G (p.Ile1057Ser)
c.3179T>G (p.Ile1060Ser)
c.2525T>G (p.Ile842Ser)
c.2969T>G (p.Ile990Ser)
9g.135784769C>ACA467820906KCNT1c.3036C>A (p.Ile1012=)
c.2877C>A (p.Ile959=)
c.2784C>A (p.Ile928=)
c.2793C>A (p.Ile931=)
c.2937C>A (p.Ile979=)
c.*2646C>A (n.*2646C>A)
c.2919C>A (p.Ile973=)
c.2979C>A (p.Ile993=)
c.2973C>A (p.Ile991=)
n.2855C>A
c.2901C>A (p.Ile967=)
c.2871C>A (p.Ile957=)
c.902C>A (n.902C>A)
c.3171C>A (p.Ile1057=)
c.3180C>A (p.Ile1060=)
c.2526C>A (p.Ile842=)
c.2970C>A (p.Ile990=)
9g.135784769C=CA1883884207KCNT1c.3036C= (p.Ile1012=)
c.2877C= (p.Ile959=)
c.2784C= (p.Ile928=)
c.2793C= (p.Ile931=)
c.2937C= (p.Ile979=)
c.*2646C= (n.*2646C=)
c.2919C= (p.Ile973=)
c.2979C= (p.Ile993=)
c.2973C= (p.Ile991=)
n.2855C=
c.2901C= (p.Ile967=)
c.2871C= (p.Ile957=)
c.902C= (n.902C=)
c.3171C= (p.Ile1057=)
c.3180C= (p.Ile1060=)
c.2526C= (p.Ile842=)
c.2970C= (p.Ile990=)
9g.135784769C>GCA375518048KCNT1c.3036C>G (p.Ile1012Met)
c.2877C>G (p.Ile959Met)
c.2784C>G (p.Ile928Met)
c.2793C>G (p.Ile931Met)
c.2937C>G (p.Ile979Met)
c.*2646C>G (n.*2646C>G)
c.2919C>G (p.Ile973Met)
c.2979C>G (p.Ile993Met)
c.2973C>G (p.Ile991Met)
n.2855C>G
c.2901C>G (p.Ile967Met)
c.2871C>G (p.Ile957Met)
c.902C>G (n.902C>G)
c.3171C>G (p.Ile1057Met)
c.3180C>G (p.Ile1060Met)
c.2526C>G (p.Ile842Met)
c.2970C>G (p.Ile990Met)
9g.135784769C>TCA5327592KCNT1c.3036C>T (p.Ile1012=)
c.2877C>T (p.Ile959=)
c.2784C>T (p.Ile928=)
c.2793C>T (p.Ile931=)
c.2937C>T (p.Ile979=)
c.*2646C>T (n.*2646C>T)
c.2919C>T (p.Ile973=)
c.2979C>T (p.Ile993=)
c.2973C>T (p.Ile991=)
n.2855C>T
c.2901C>T (p.Ile967=)
c.2871C>T (p.Ile957=)
c.902C>T (n.902C>T)
c.3171C>T (p.Ile1057=)
c.3180C>T (p.Ile1060=)
c.2526C>T (p.Ile842=)
c.2970C>T (p.Ile990=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135784770A>CCA375518049KCNT1c.3037A>C (p.Thr1013Pro)
c.2878A>C (p.Thr960Pro)
c.2785A>C (p.Thr929Pro)
c.2794A>C (p.Thr932Pro)
c.2938A>C (p.Thr980Pro)
c.*2647A>C (n.*2647A>C)
c.2920A>C (p.Thr974Pro)
c.2980A>C (p.Thr994Pro)
c.2974A>C (p.Thr992Pro)
n.2856A>C
c.2902A>C (p.Thr968Pro)
c.2872A>C (p.Thr958Pro)
c.903A>C (n.903A>C)
c.3172A>C (p.Thr1058Pro)
c.3181A>C (p.Thr1061Pro)
c.2527A>C (p.Thr843Pro)
c.2971A>C (p.Thr991Pro)
9g.135784770A>GCA375518050KCNT1c.3037A>G (p.Thr1013Ala)
c.2878A>G (p.Thr960Ala)
c.2785A>G (p.Thr929Ala)
c.2794A>G (p.Thr932Ala)
c.2938A>G (p.Thr980Ala)
c.*2647A>G (n.*2647A>G)
c.2920A>G (p.Thr974Ala)
c.2980A>G (p.Thr994Ala)
c.2974A>G (p.Thr992Ala)
n.2856A>G
c.2902A>G (p.Thr968Ala)
c.2872A>G (p.Thr958Ala)
c.903A>G (n.903A>G)
c.3172A>G (p.Thr1058Ala)
c.3181A>G (p.Thr1061Ala)
c.2527A>G (p.Thr843Ala)
c.2971A>G (p.Thr991Ala)
9g.135784770A>TCA375518051KCNT1c.3037A>T (p.Thr1013Ser)
c.2878A>T (p.Thr960Ser)
c.2785A>T (p.Thr929Ser)
c.2794A>T (p.Thr932Ser)
c.2938A>T (p.Thr980Ser)
c.*2647A>T (n.*2647A>T)
c.2920A>T (p.Thr974Ser)
c.2980A>T (p.Thr994Ser)
c.2974A>T (p.Thr992Ser)
n.2856A>T
c.2902A>T (p.Thr968Ser)
c.2872A>T (p.Thr958Ser)
c.903A>T (n.903A>T)
c.3172A>T (p.Thr1058Ser)
c.3181A>T (p.Thr1061Ser)
c.2527A>T (p.Thr843Ser)
c.2971A>T (p.Thr991Ser)
9g.135784771C>ACA375518052KCNT1c.3038C>A (p.Thr1013Asn)
c.2879C>A (p.Thr960Asn)
c.2786C>A (p.Thr929Asn)
c.2795C>A (p.Thr932Asn)
c.2939C>A (p.Thr980Asn)
c.*2648C>A (n.*2648C>A)
c.2921C>A (p.Thr974Asn)
c.2981C>A (p.Thr994Asn)
c.2975C>A (p.Thr992Asn)
n.2857C>A
c.2903C>A (p.Thr968Asn)
c.2873C>A (p.Thr958Asn)
c.904C>A (n.904C>A)
c.3173C>A (p.Thr1058Asn)
c.3182C>A (p.Thr1061Asn)
c.2528C>A (p.Thr843Asn)
c.2972C>A (p.Thr991Asn)
9g.135784771C>GCA375518053KCNT1c.3038C>G (p.Thr1013Ser)
c.2879C>G (p.Thr960Ser)
c.2786C>G (p.Thr929Ser)
c.2795C>G (p.Thr932Ser)
c.2939C>G (p.Thr980Ser)
c.*2648C>G (n.*2648C>G)
c.2921C>G (p.Thr974Ser)
c.2981C>G (p.Thr994Ser)
c.2975C>G (p.Thr992Ser)
n.2857C>G
c.2903C>G (p.Thr968Ser)
c.2873C>G (p.Thr958Ser)
c.904C>G (n.904C>G)
c.3173C>G (p.Thr1058Ser)
c.3182C>G (p.Thr1061Ser)
c.2528C>G (p.Thr843Ser)
c.2972C>G (p.Thr991Ser)
 gnomAD v4
9g.135784771C>TCA375518055KCNT1c.3038C>T (p.Thr1013Ile)
c.2879C>T (p.Thr960Ile)
c.2786C>T (p.Thr929Ile)
c.2795C>T (p.Thr932Ile)
c.2939C>T (p.Thr980Ile)
c.*2648C>T (n.*2648C>T)
c.2921C>T (p.Thr974Ile)
c.2981C>T (p.Thr994Ile)
c.2975C>T (p.Thr992Ile)
n.2857C>T
c.2903C>T (p.Thr968Ile)
c.2873C>T (p.Thr958Ile)
c.904C>T (n.904C>T)
c.3173C>T (p.Thr1058Ile)
c.3182C>T (p.Thr1061Ile)
c.2528C>T (p.Thr843Ile)
c.2972C>T (p.Thr991Ile)
9g.135784772C>ACA467820911KCNT1c.3039C>A (p.Thr1013=)
c.2880C>A (p.Thr960=)
c.2787C>A (p.Thr929=)
c.2796C>A (p.Thr932=)
c.2940C>A (p.Thr980=)
c.*2649C>A (n.*2649C>A)
c.2922C>A (p.Thr974=)
c.2982C>A (p.Thr994=)
c.2976C>A (p.Thr992=)
n.2858C>A
c.2904C>A (p.Thr968=)
c.2874C>A (p.Thr958=)
c.905C>A (n.905C>A)
c.3174C>A (p.Thr1058=)
c.3183C>A (p.Thr1061=)
c.2529C>A (p.Thr843=)
c.2973C>A (p.Thr991=)
9g.135784772C=CA1883884209KCNT1c.3039C= (p.Thr1013=)
c.2880C= (p.Thr960=)
c.2787C= (p.Thr929=)
c.2796C= (p.Thr932=)
c.2940C= (p.Thr980=)
c.*2649C= (n.*2649C=)
c.2922C= (p.Thr974=)
c.2982C= (p.Thr994=)
c.2976C= (p.Thr992=)
n.2858C=
c.2904C= (p.Thr968=)
c.2874C= (p.Thr958=)
c.905C= (n.905C=)
c.3174C= (p.Thr1058=)
c.3183C= (p.Thr1061=)
c.2529C= (p.Thr843=)
c.2973C= (p.Thr991=)
9g.135784772C>GCA467820910KCNT1c.3039C>G (p.Thr1013=)
c.2880C>G (p.Thr960=)
c.2787C>G (p.Thr929=)
c.2796C>G (p.Thr932=)
c.2940C>G (p.Thr980=)
c.*2649C>G (n.*2649C>G)
c.2922C>G (p.Thr974=)
c.2982C>G (p.Thr994=)
c.2976C>G (p.Thr992=)
n.2858C>G
c.2904C>G (p.Thr968=)
c.2874C>G (p.Thr958=)
c.905C>G (n.905C>G)
c.3174C>G (p.Thr1058=)
c.3183C>G (p.Thr1061=)
c.2529C>G (p.Thr843=)
c.2973C>G (p.Thr991=)
9g.135784772C>TCA5327593KCNT1c.3039C>T (p.Thr1013=)
c.2880C>T (p.Thr960=)
c.2787C>T (p.Thr929=)
c.2796C>T (p.Thr932=)
c.2940C>T (p.Thr980=)
c.*2649C>T (n.*2649C>T)
c.2922C>T (p.Thr974=)
c.2982C>T (p.Thr994=)
c.2976C>T (p.Thr992=)
n.2858C>T
c.2904C>T (p.Thr968=)
c.2874C>T (p.Thr958=)
c.905C>T (n.905C>T)
c.3174C>T (p.Thr1058=)
c.3183C>T (p.Thr1061=)
c.2529C>T (p.Thr843=)
c.2973C>T (p.Thr991=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135784773G>ACA5327594KCNT1c.3040G>A (p.Glu1014Lys)
c.2881G>A (p.Glu961Lys)
c.2788G>A (p.Glu930Lys)
c.2797G>A (p.Glu933Lys)
c.2941G>A (p.Glu981Lys)
c.*2650G>A (n.*2650G>A)
c.2923G>A (p.Glu975Lys)
c.2983G>A (p.Glu995Lys)
c.2977G>A (p.Glu993Lys)
n.2859G>A
c.2905G>A (p.Glu969Lys)
c.2875G>A (p.Glu959Lys)
c.906G>A (n.906G>A)
c.3175G>A (p.Glu1059Lys)
c.3184G>A (p.Glu1062Lys)
c.2530G>A (p.Glu844Lys)
c.2974G>A (p.Glu992Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135784773G>CCA375518056KCNT1c.3040G>C (p.Glu1014Gln)
c.2881G>C (p.Glu961Gln)
c.2788G>C (p.Glu930Gln)
c.2797G>C (p.Glu933Gln)
c.2941G>C (p.Glu981Gln)
c.*2650G>C (n.*2650G>C)
c.2923G>C (p.Glu975Gln)
c.2983G>C (p.Glu995Gln)
c.2977G>C (p.Glu993Gln)
n.2859G>C
c.2905G>C (p.Glu969Gln)
c.2875G>C (p.Glu959Gln)
c.906G>C (n.906G>C)
c.3175G>C (p.Glu1059Gln)
c.3184G>C (p.Glu1062Gln)
c.2530G>C (p.Glu844Gln)
c.2974G>C (p.Glu992Gln)
 dbSNP
9g.135784773G=CA1883884218KCNT1c.3040G= (p.Glu1014=)
c.2881G= (p.Glu961=)
c.2788G= (p.Glu930=)
c.2797G= (p.Glu933=)
c.2941G= (p.Glu981=)
c.*2650G= (n.*2650G=)
c.2923G= (p.Glu975=)
c.2983G= (p.Glu995=)
c.2977G= (p.Glu993=)
n.2859G=
c.2905G= (p.Glu969=)
c.2875G= (p.Glu959=)
c.906G= (n.906G=)
c.3175G= (p.Glu1059=)
c.3184G= (p.Glu1062=)
c.2530G= (p.Glu844=)
c.2974G= (p.Glu992=)
9g.135784773G>TCA375518057KCNT1c.3040G>T (p.Glu1014Ter)
c.2881G>T (p.Glu961Ter)
c.2788G>T (p.Glu930Ter)
c.2797G>T (p.Glu933Ter)
c.2941G>T (p.Glu981Ter)
c.*2650G>T (n.*2650G>T)
c.2923G>T (p.Glu975Ter)
c.2983G>T (p.Glu995Ter)
c.2977G>T (p.Glu993Ter)
n.2859G>T
c.2905G>T (p.Glu969Ter)
c.2875G>T (p.Glu959Ter)
c.906G>T (n.906G>T)
c.3175G>T (p.Glu1059Ter)
c.3184G>T (p.Glu1062Ter)
c.2530G>T (p.Glu844Ter)
c.2974G>T (p.Glu992Ter)
9g.135784774A>CCA375518059KCNT1c.3041A>C (p.Glu1014Ala)
c.2882A>C (p.Glu961Ala)
c.2789A>C (p.Glu930Ala)
c.2798A>C (p.Glu933Ala)
c.2942A>C (p.Glu981Ala)
c.*2651A>C (n.*2651A>C)
c.2924A>C (p.Glu975Ala)
c.2984A>C (p.Glu995Ala)
c.2978A>C (p.Glu993Ala)
n.2860A>C
c.2906A>C (p.Glu969Ala)
c.2876A>C (p.Glu959Ala)
c.907A>C (n.907A>C)
c.3176A>C (p.Glu1059Ala)
c.3185A>C (p.Glu1062Ala)
c.2531A>C (p.Glu844Ala)
c.2975A>C (p.Glu992Ala)
9g.135784774A>GCA375518060KCNT1c.3041A>G (p.Glu1014Gly)
c.2882A>G (p.Glu961Gly)
c.2789A>G (p.Glu930Gly)
c.2798A>G (p.Glu933Gly)
c.2942A>G (p.Glu981Gly)
c.*2651A>G (n.*2651A>G)
c.2924A>G (p.Glu975Gly)
c.2984A>G (p.Glu995Gly)
c.2978A>G (p.Glu993Gly)
n.2860A>G
c.2906A>G (p.Glu969Gly)
c.2876A>G (p.Glu959Gly)
c.907A>G (n.907A>G)
c.3176A>G (p.Glu1059Gly)
c.3185A>G (p.Glu1062Gly)
c.2531A>G (p.Glu844Gly)
c.2975A>G (p.Glu992Gly)
9g.135784774A>TCA375518058KCNT1c.3041A>T (p.Glu1014Val)
c.2882A>T (p.Glu961Val)
c.2789A>T (p.Glu930Val)
c.2798A>T (p.Glu933Val)
c.2942A>T (p.Glu981Val)
c.*2651A>T (n.*2651A>T)
c.2924A>T (p.Glu975Val)
c.2984A>T (p.Glu995Val)
c.2978A>T (p.Glu993Val)
n.2860A>T
c.2906A>T (p.Glu969Val)
c.2876A>T (p.Glu959Val)
c.907A>T (n.907A>T)
c.3176A>T (p.Glu1059Val)
c.3185A>T (p.Glu1062Val)
c.2531A>T (p.Glu844Val)
c.2975A>T (p.Glu992Val)
9g.135784775G>ACA467820915KCNT1c.3042G>A (p.Glu1014=)
c.2883G>A (p.Glu961=)
c.2790G>A (p.Glu930=)
c.2799G>A (p.Glu933=)
c.2943G>A (p.Glu981=)
c.*2652G>A (n.*2652G>A)
c.2925G>A (p.Glu975=)
c.2985G>A (p.Glu995=)
c.2979G>A (p.Glu993=)
n.2861G>A
c.2907G>A (p.Glu969=)
c.2877G>A (p.Glu959=)
c.908G>A (n.908G>A)
c.3177G>A (p.Glu1059=)
c.3186G>A (p.Glu1062=)
c.2532G>A (p.Glu844=)
c.2976G>A (p.Glu992=)
 ClinVar dbSNP
9g.135784775G>CCA375518062KCNT1c.3042G>C (p.Glu1014Asp)
c.2883G>C (p.Glu961Asp)
c.2790G>C (p.Glu930Asp)
c.2799G>C (p.Glu933Asp)
c.2943G>C (p.Glu981Asp)
c.*2652G>C (n.*2652G>C)
c.2925G>C (p.Glu975Asp)
c.2985G>C (p.Glu995Asp)
c.2979G>C (p.Glu993Asp)
n.2861G>C
c.2907G>C (p.Glu969Asp)
c.2877G>C (p.Glu959Asp)
c.908G>C (n.908G>C)
c.3177G>C (p.Glu1059Asp)
c.3186G>C (p.Glu1062Asp)
c.2532G>C (p.Glu844Asp)
c.2976G>C (p.Glu992Asp)
 gnomAD v4
9g.135784775G=CA1883884224KCNT1c.3042G= (p.Glu1014=)
c.2883G= (p.Glu961=)
c.2790G= (p.Glu930=)
c.2799G= (p.Glu933=)
c.2943G= (p.Glu981=)
c.*2652G= (n.*2652G=)
c.2925G= (p.Glu975=)
c.2985G= (p.Glu995=)
c.2979G= (p.Glu993=)
n.2861G=
c.2907G= (p.Glu969=)
c.2877G= (p.Glu959=)
c.908G= (n.908G=)
c.3177G= (p.Glu1059=)
c.3186G= (p.Glu1062=)
c.2532G= (p.Glu844=)
c.2976G= (p.Glu992=)
9g.135784775G>TCA375518061KCNT1c.3042G>T (p.Glu1014Asp)
c.2883G>T (p.Glu961Asp)
c.2790G>T (p.Glu930Asp)
c.2799G>T (p.Glu933Asp)
c.2943G>T (p.Glu981Asp)
c.*2652G>T (n.*2652G>T)
c.2925G>T (p.Glu975Asp)
c.2985G>T (p.Glu995Asp)
c.2979G>T (p.Glu993Asp)
n.2861G>T
c.2907G>T (p.Glu969Asp)
c.2877G>T (p.Glu959Asp)
c.908G>T (n.908G>T)
c.3177G>T (p.Glu1059Asp)
c.3186G>T (p.Glu1062Asp)
c.2532G>T (p.Glu844Asp)
c.2976G>T (p.Glu992Asp)
9g.135784776G>ACA375518063KCNT1c.3043G>A (p.Gly1015Ser)
c.2884G>A (p.Gly962Ser)
c.2791G>A (p.Gly931Ser)
c.2800G>A (p.Gly934Ser)
c.2944G>A (p.Gly982Ser)
c.*2653G>A (n.*2653G>A)
c.2926G>A (p.Gly976Ser)
c.2986G>A (p.Gly996Ser)
c.2980G>A (p.Gly994Ser)
n.2862G>A
c.2908G>A (p.Gly970Ser)
c.2878G>A (p.Gly960Ser)
c.909G>A (n.909G>A)
c.3178G>A (p.Gly1060Ser)
c.3187G>A (p.Gly1063Ser)
c.2533G>A (p.Gly845Ser)
c.2977G>A (p.Gly993Ser)
 gnomAD v4
9g.135784776G>CCA375518064KCNT1c.3043G>C (p.Gly1015Arg)
c.2884G>C (p.Gly962Arg)
c.2791G>C (p.Gly931Arg)
c.2800G>C (p.Gly934Arg)
c.2944G>C (p.Gly982Arg)
c.*2653G>C (n.*2653G>C)
c.2926G>C (p.Gly976Arg)
c.2986G>C (p.Gly996Arg)
c.2980G>C (p.Gly994Arg)
n.2862G>C
c.2908G>C (p.Gly970Arg)
c.2878G>C (p.Gly960Arg)
c.909G>C (n.909G>C)
c.3178G>C (p.Gly1060Arg)
c.3187G>C (p.Gly1063Arg)
c.2533G>C (p.Gly845Arg)
c.2977G>C (p.Gly993Arg)
9g.135784776G>TCA375518065KCNT1c.3043G>T (p.Gly1015Cys)
c.2884G>T (p.Gly962Cys)
c.2791G>T (p.Gly931Cys)
c.2800G>T (p.Gly934Cys)
c.2944G>T (p.Gly982Cys)
c.*2653G>T (n.*2653G>T)
c.2926G>T (p.Gly976Cys)
c.2986G>T (p.Gly996Cys)
c.2980G>T (p.Gly994Cys)
n.2862G>T
c.2908G>T (p.Gly970Cys)
c.2878G>T (p.Gly960Cys)
c.909G>T (n.909G>T)
c.3178G>T (p.Gly1060Cys)
c.3187G>T (p.Gly1063Cys)
c.2533G>T (p.Gly845Cys)
c.2977G>T (p.Gly993Cys)
9g.135784777G>ACA375518066KCNT1c.3044G>A (p.Gly1015Asp)
c.2885G>A (p.Gly962Asp)
c.2792G>A (p.Gly931Asp)
c.2801G>A (p.Gly934Asp)
c.2945G>A (p.Gly982Asp)
c.*2654G>A (n.*2654G>A)
c.2927G>A (p.Gly976Asp)
c.2987G>A (p.Gly996Asp)
c.2981G>A (p.Gly994Asp)
n.2863G>A
c.2909G>A (p.Gly970Asp)
c.2879G>A (p.Gly960Asp)
c.910G>A (n.910G>A)
c.3179G>A (p.Gly1060Asp)
c.3188G>A (p.Gly1063Asp)
c.2534G>A (p.Gly845Asp)
c.2978G>A (p.Gly993Asp)
9g.135784777G>CCA375518067KCNT1c.3044G>C (p.Gly1015Ala)
c.2885G>C (p.Gly962Ala)
c.2792G>C (p.Gly931Ala)
c.2801G>C (p.Gly934Ala)
c.2945G>C (p.Gly982Ala)
c.*2654G>C (n.*2654G>C)
c.2927G>C (p.Gly976Ala)
c.2987G>C (p.Gly996Ala)
c.2981G>C (p.Gly994Ala)
n.2863G>C
c.2909G>C (p.Gly970Ala)
c.2879G>C (p.Gly960Ala)
c.910G>C (n.910G>C)
c.3179G>C (p.Gly1060Ala)
c.3188G>C (p.Gly1063Ala)
c.2534G>C (p.Gly845Ala)
c.2978G>C (p.Gly993Ala)
9g.135784777G>TCA375518068KCNT1c.3044G>T (p.Gly1015Val)
c.2885G>T (p.Gly962Val)
c.2792G>T (p.Gly931Val)
c.2801G>T (p.Gly934Val)
c.2945G>T (p.Gly982Val)
c.*2654G>T (n.*2654G>T)
c.2927G>T (p.Gly976Val)
c.2987G>T (p.Gly996Val)
c.2981G>T (p.Gly994Val)
n.2863G>T
c.2909G>T (p.Gly970Val)
c.2879G>T (p.Gly960Val)
c.910G>T (n.910G>T)
c.3179G>T (p.Gly1060Val)
c.3188G>T (p.Gly1063Val)
c.2534G>T (p.Gly845Val)
c.2978G>T (p.Gly993Val)
9g.135784778C>ACA467820919KCNT1c.3045C>A (p.Gly1015=)
c.2886C>A (p.Gly962=)
c.2793C>A (p.Gly931=)
c.2802C>A (p.Gly934=)
c.2946C>A (p.Gly982=)
c.*2655C>A (n.*2655C>A)
c.2928C>A (p.Gly976=)
c.2988C>A (p.Gly996=)
c.2982C>A (p.Gly994=)
n.2864C>A
c.2910C>A (p.Gly970=)
c.2880C>A (p.Gly960=)
c.911C>A (n.911C>A)
c.3180C>A (p.Gly1060=)
c.3189C>A (p.Gly1063=)
c.2535C>A (p.Gly845=)
c.2979C>A (p.Gly993=)
 gnomAD v4
9g.135784778C=CA1883884230KCNT1c.3045C= (p.Gly1015=)
c.2886C= (p.Gly962=)
c.2793C= (p.Gly931=)
c.2802C= (p.Gly934=)
c.2946C= (p.Gly982=)
c.*2655C= (n.*2655C=)
c.2928C= (p.Gly976=)
c.2988C= (p.Gly996=)
c.2982C= (p.Gly994=)
n.2864C=
c.2910C= (p.Gly970=)
c.2880C= (p.Gly960=)
c.911C= (n.911C=)
c.3180C= (p.Gly1060=)
c.3189C= (p.Gly1063=)
c.2535C= (p.Gly845=)
c.2979C= (p.Gly993=)
9g.135784778C>GCA467820920KCNT1c.3045C>G (p.Gly1015=)
c.2886C>G (p.Gly962=)
c.2793C>G (p.Gly931=)
c.2802C>G (p.Gly934=)
c.2946C>G (p.Gly982=)
c.*2655C>G (n.*2655C>G)
c.2928C>G (p.Gly976=)
c.2988C>G (p.Gly996=)
c.2982C>G (p.Gly994=)
n.2864C>G
c.2910C>G (p.Gly970=)
c.2880C>G (p.Gly960=)
c.911C>G (n.911C>G)
c.3180C>G (p.Gly1060=)
c.3189C>G (p.Gly1063=)
c.2535C>G (p.Gly845=)
c.2979C>G (p.Gly993=)
 gnomAD v4
9g.135784778C>TCA5327595KCNT1c.3045C>T (p.Gly1015=)
c.2886C>T (p.Gly962=)
c.2793C>T (p.Gly931=)
c.2802C>T (p.Gly934=)
c.2946C>T (p.Gly982=)
c.*2655C>T (n.*2655C>T)
c.2928C>T (p.Gly976=)
c.2988C>T (p.Gly996=)
c.2982C>T (p.Gly994=)
n.2864C>T
c.2910C>T (p.Gly970=)
c.2880C>T (p.Gly960=)
c.911C>T (n.911C>T)
c.3180C>T (p.Gly1060=)
c.3189C>T (p.Gly1063=)
c.2535C>T (p.Gly845=)
c.2979C>T (p.Gly993=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.135784779G>ACA5327596KCNT1c.3046G>A (p.Asp1016Asn)
c.2887G>A (p.Asp963Asn)
c.2794G>A (p.Asp932Asn)
c.2803G>A (p.Asp935Asn)
c.2947G>A (p.Asp983Asn)
c.*2656G>A (n.*2656G>A)
c.2929G>A (p.Asp977Asn)
c.2989G>A (p.Asp997Asn)
c.2983G>A (p.Asp995Asn)
n.2865G>A
c.2911G>A (p.Asp971Asn)
c.2881G>A (p.Asp961Asn)
c.912G>A (n.912G>A)
c.3181G>A (p.Asp1061Asn)
c.3190G>A (p.Asp1064Asn)
c.2536G>A (p.Asp846Asn)
c.2980G>A (p.Asp994Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.135784779G>CCA375518069KCNT1c.3046G>C (p.Asp1016His)
c.2887G>C (p.Asp963His)
c.2794G>C (p.Asp932His)
c.2803G>C (p.Asp935His)
c.2947G>C (p.Asp983His)
c.*2656G>C (n.*2656G>C)
c.2929G>C (p.Asp977His)
c.2989G>C (p.Asp997His)
c.2983G>C (p.Asp995His)
n.2865G>C
c.2911G>C (p.Asp971His)
c.2881G>C (p.Asp961His)
c.912G>C (n.912G>C)
c.3181G>C (p.Asp1061His)
c.3190G>C (p.Asp1064His)
c.2536G>C (p.Asp846His)
c.2980G>C (p.Asp994His)
9g.135784779G=CA1883884236KCNT1c.3046G= (p.Asp1016=)
c.2887G= (p.Asp963=)
c.2794G= (p.Asp932=)
c.2803G= (p.Asp935=)
c.2947G= (p.Asp983=)
c.*2656G= (n.*2656G=)
c.2929G= (p.Asp977=)
c.2989G= (p.Asp997=)
c.2983G= (p.Asp995=)
n.2865G=
c.2911G= (p.Asp971=)
c.2881G= (p.Asp961=)
c.912G= (n.912G=)
c.3181G= (p.Asp1061=)
c.3190G= (p.Asp1064=)
c.2536G= (p.Asp846=)
c.2980G= (p.Asp994=)
9g.135784779G>TCA375518070KCNT1c.3046G>T (p.Asp1016Tyr)
c.2887G>T (p.Asp963Tyr)
c.2794G>T (p.Asp932Tyr)
c.2803G>T (p.Asp935Tyr)
c.2947G>T (p.Asp983Tyr)
c.*2656G>T (n.*2656G>T)
c.2929G>T (p.Asp977Tyr)
c.2989G>T (p.Asp997Tyr)
c.2983G>T (p.Asp995Tyr)
n.2865G>T
c.2911G>T (p.Asp971Tyr)
c.2881G>T (p.Asp961Tyr)
c.912G>T (n.912G>T)
c.3181G>T (p.Asp1061Tyr)
c.3190G>T (p.Asp1064Tyr)
c.2536G>T (p.Asp846Tyr)
c.2980G>T (p.Asp994Tyr)
 ClinVar dbSNP
9g.135784780A>CCA375518071KCNT1c.3047A>C (p.Asp1016Ala)
c.2888A>C (p.Asp963Ala)
c.2795A>C (p.Asp932Ala)
c.2804A>C (p.Asp935Ala)
c.2948A>C (p.Asp983Ala)
c.*2657A>C (n.*2657A>C)
c.2930A>C (p.Asp977Ala)
c.2990A>C (p.Asp997Ala)
c.2984A>C (p.Asp995Ala)
n.2866A>C
c.2912A>C (p.Asp971Ala)
c.2882A>C (p.Asp961Ala)
c.913A>C (n.913A>C)
c.3182A>C (p.Asp1061Ala)
c.3191A>C (p.Asp1064Ala)
c.2537A>C (p.Asp846Ala)
c.2981A>C (p.Asp994Ala)
9g.135784780A>GCA375518072KCNT1c.3047A>G (p.Asp1016Gly)
c.2888A>G (p.Asp963Gly)
c.2795A>G (p.Asp932Gly)
c.2804A>G (p.Asp935Gly)
c.2948A>G (p.Asp983Gly)
c.*2657A>G (n.*2657A>G)
c.2930A>G (p.Asp977Gly)
c.2990A>G (p.Asp997Gly)
c.2984A>G (p.Asp995Gly)
n.2866A>G
c.2912A>G (p.Asp971Gly)
c.2882A>G (p.Asp961Gly)
c.913A>G (n.913A>G)
c.3182A>G (p.Asp1061Gly)
c.3191A>G (p.Asp1064Gly)
c.2537A>G (p.Asp846Gly)
c.2981A>G (p.Asp994Gly)
9g.135784780A>TCA375518073KCNT1c.3047A>T (p.Asp1016Val)
c.2888A>T (p.Asp963Val)
c.2795A>T (p.Asp932Val)
c.2804A>T (p.Asp935Val)
c.2948A>T (p.Asp983Val)
c.*2657A>T (n.*2657A>T)
c.2930A>T (p.Asp977Val)
c.2990A>T (p.Asp997Val)
c.2984A>T (p.Asp995Val)
n.2866A>T
c.2912A>T (p.Asp971Val)
c.2882A>T (p.Asp961Val)
c.913A>T (n.913A>T)
c.3182A>T (p.Asp1061Val)
c.3191A>T (p.Asp1064Val)
c.2537A>T (p.Asp846Val)
c.2981A>T (p.Asp994Val)
9g.135784781C>ACA375518074KCNT1c.3048C>A (p.Asp1016Glu)
c.2889C>A (p.Asp963Glu)
c.2796C>A (p.Asp932Glu)
c.2805C>A (p.Asp935Glu)
c.2949C>A (p.Asp983Glu)
c.*2658C>A (n.*2658C>A)
c.2931C>A (p.Asp977Glu)
c.2991C>A (p.Asp997Glu)
c.2985C>A (p.Asp995Glu)
n.2867C>A
c.2913C>A (p.Asp971Glu)
c.2883C>A (p.Asp961Glu)
c.914C>A (n.914C>A)
c.3183C>A (p.Asp1061Glu)
c.3192C>A (p.Asp1064Glu)
c.2538C>A (p.Asp846Glu)
c.2982C>A (p.Asp994Glu)
9g.135784781C=CA1883884243KCNT1c.3048C= (p.Asp1016=)
c.2889C= (p.Asp963=)
c.2796C= (p.Asp932=)
c.2805C= (p.Asp935=)
c.2949C= (p.Asp983=)
c.*2658C= (n.*2658C=)
c.2931C= (p.Asp977=)
c.2991C= (p.Asp997=)
c.2985C= (p.Asp995=)
n.2867C=
c.2913C= (p.Asp971=)
c.2883C= (p.Asp961=)
c.914C= (n.914C=)
c.3183C= (p.Asp1061=)
c.3192C= (p.Asp1064=)
c.2538C= (p.Asp846=)
c.2982C= (p.Asp994=)
9g.135784781C>GCA375518075KCNT1c.3048C>G (p.Asp1016Glu)
c.2889C>G (p.Asp963Glu)
c.2796C>G (p.Asp932Glu)
c.2805C>G (p.Asp935Glu)
c.2949C>G (p.Asp983Glu)
c.*2658C>G (n.*2658C>G)
c.2931C>G (p.Asp977Glu)
c.2991C>G (p.Asp997Glu)
c.2985C>G (p.Asp995Glu)
n.2867C>G
c.2913C>G (p.Asp971Glu)
c.2883C>G (p.Asp961Glu)
c.914C>G (n.914C>G)
c.3183C>G (p.Asp1061Glu)
c.3192C>G (p.Asp1064Glu)
c.2538C>G (p.Asp846Glu)
c.2982C>G (p.Asp994Glu)
9g.135784781C>TCA5327597KCNT1c.3048C>T (p.Asp1016=)
c.2889C>T (p.Asp963=)
c.2796C>T (p.Asp932=)
c.2805C>T (p.Asp935=)
c.2949C>T (p.Asp983=)
c.*2658C>T (n.*2658C>T)
c.2931C>T (p.Asp977=)
c.2991C>T (p.Asp997=)
c.2985C>T (p.Asp995=)
n.2867C>T
c.2913C>T (p.Asp971=)
c.2883C>T (p.Asp961=)
c.914C>T (n.914C>T)
c.3183C>T (p.Asp1061=)
c.3192C>T (p.Asp1064=)
c.2538C>T (p.Asp846=)
c.2982C>T (p.Asp994=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135784782C>ACA375518076KCNT1c.3049C>A (p.Leu1017Met)
c.2890C>A (p.Leu964Met)
c.2797C>A (p.Leu933Met)
c.2806C>A (p.Leu936Met)
c.2950C>A (p.Leu984Met)
c.*2659C>A (n.*2659C>A)
c.2932C>A (p.Leu978Met)
c.2992C>A (p.Leu998Met)
c.2986C>A (p.Leu996Met)
n.2868C>A
c.2914C>A (p.Leu972Met)
c.2884C>A (p.Leu962Met)
c.915C>A (n.915C>A)
c.3184C>A (p.Leu1062Met)
c.3193C>A (p.Leu1065Met)
c.2539C>A (p.Leu847Met)
c.2983C>A (p.Leu995Met)
9g.135784782C>GCA375518077KCNT1c.3049C>G (p.Leu1017Val)
c.2890C>G (p.Leu964Val)
c.2797C>G (p.Leu933Val)
c.2806C>G (p.Leu936Val)
c.2950C>G (p.Leu984Val)
c.*2659C>G (n.*2659C>G)
c.2932C>G (p.Leu978Val)
c.2992C>G (p.Leu998Val)
c.2986C>G (p.Leu996Val)
n.2868C>G
c.2914C>G (p.Leu972Val)
c.2884C>G (p.Leu962Val)
c.915C>G (n.915C>G)
c.3184C>G (p.Leu1062Val)
c.3193C>G (p.Leu1065Val)
c.2539C>G (p.Leu847Val)
c.2983C>G (p.Leu995Val)
9g.135784782C>TCA467820927KCNT1c.3049C>T (p.Leu1017=)
c.2890C>T (p.Leu964=)
c.2797C>T (p.Leu933=)
c.2806C>T (p.Leu936=)
c.2950C>T (p.Leu984=)
c.*2659C>T (n.*2659C>T)
c.2932C>T (p.Leu978=)
c.2992C>T (p.Leu998=)
c.2986C>T (p.Leu996=)
n.2868C>T
c.2914C>T (p.Leu972=)
c.2884C>T (p.Leu962=)
c.915C>T (n.915C>T)
c.3184C>T (p.Leu1062=)
c.3193C>T (p.Leu1065=)
c.2539C>T (p.Leu847=)
c.2983C>T (p.Leu995=)
9g.135784782_135784783delinsCTCA1883884248KCNT1c.3049_3050delinsCT (p.Leu1017=)
c.2890_2891delinsCT (p.Leu964=)
c.2797_2798delinsCT (p.Leu933=)
c.2806_2807delinsCT (p.Leu936=)
c.2950_2951delinsCT (p.Leu984=)
c.*2659_*2660delinsCT (n.*2659_*2660delinsCT)
c.2932_2933delinsCT (p.Leu978=)
c.2992_2993delinsCT (p.Leu998=)
c.2986_2987delinsCT (p.Leu996=)
n.2868_2869delinsCT
c.2914_2915delinsCT (p.Leu972=)
c.2884_2885delinsCT (p.Leu962=)
c.915_916delinsCT (n.915_916delinsCT)
c.3184_3185delinsCT (p.Leu1062=)
c.3193_3194delinsCT (p.Leu1065=)
c.2539_2540delinsCT (p.Leu847=)
c.2983_2984delinsCT (p.Leu995=)
9g.135784783delCA860995333KCNT1c.3050del (p.Leu1017ArgfsTer?)
c.2891del (p.Leu964ArgfsTer?)
c.2798del (p.Leu933ArgfsTer?)
c.2807del (p.Leu936ArgfsTer?)
c.2951del (p.Leu984ArgfsTer?)
c.*2660del (n.*2660del)
c.2933del (p.Leu978ArgfsTer?)
c.2993del (p.Leu998ArgfsTer?)
c.2987del (p.Leu996ArgfsTer?)
n.2869del
c.2915del (p.Leu972ArgfsTer?)
c.2885del (p.Leu962ArgfsTer?)
c.916del (n.916del)
c.3185del (p.Leu1062ArgfsTer?)
c.3194del (p.Leu1065ArgfsTer?)
c.2540del (p.Leu847ArgfsTer?)
c.2984del (p.Leu995ArgfsTer?)
 dbSNP gnomAD v3 gnomAD v4
9g.135784783T>ACA375518078KCNT1c.3050T>A (p.Leu1017Gln)
c.2891T>A (p.Leu964Gln)
c.2798T>A (p.Leu933Gln)
c.2807T>A (p.Leu936Gln)
c.2951T>A (p.Leu984Gln)
c.*2660T>A (n.*2660T>A)
c.2933T>A (p.Leu978Gln)
c.2993T>A (p.Leu998Gln)
c.2987T>A (p.Leu996Gln)
n.2869T>A
c.2915T>A (p.Leu972Gln)
c.2885T>A (p.Leu962Gln)
c.916T>A (n.916T>A)
c.3185T>A (p.Leu1062Gln)
c.3194T>A (p.Leu1065Gln)
c.2540T>A (p.Leu847Gln)
c.2984T>A (p.Leu995Gln)
9g.135784783T>CCA375518079KCNT1c.3050T>C (p.Leu1017Pro)
c.2891T>C (p.Leu964Pro)
c.2798T>C (p.Leu933Pro)
c.2807T>C (p.Leu936Pro)
c.2951T>C (p.Leu984Pro)
c.*2660T>C (n.*2660T>C)
c.2933T>C (p.Leu978Pro)
c.2993T>C (p.Leu998Pro)
c.2987T>C (p.Leu996Pro)
n.2869T>C
c.2915T>C (p.Leu972Pro)
c.2885T>C (p.Leu962Pro)
c.916T>C (n.916T>C)
c.3185T>C (p.Leu1062Pro)
c.3194T>C (p.Leu1065Pro)
c.2540T>C (p.Leu847Pro)
c.2984T>C (p.Leu995Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.135784783T>GCA375518080KCNT1c.3050T>G (p.Leu1017Arg)
c.2891T>G (p.Leu964Arg)
c.2798T>G (p.Leu933Arg)
c.2807T>G (p.Leu936Arg)
c.2951T>G (p.Leu984Arg)
c.*2660T>G (n.*2660T>G)
c.2933T>G (p.Leu978Arg)
c.2993T>G (p.Leu998Arg)
c.2987T>G (p.Leu996Arg)
n.2869T>G
c.2915T>G (p.Leu972Arg)
c.2885T>G (p.Leu962Arg)
c.916T>G (n.916T>G)
c.3185T>G (p.Leu1062Arg)
c.3194T>G (p.Leu1065Arg)
c.2540T>G (p.Leu847Arg)
c.2984T>G (p.Leu995Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.135784783T=CA1883884259KCNT1c.3050T= (p.Leu1017=)
c.2891T= (p.Leu964=)
c.2798T= (p.Leu933=)
c.2807T= (p.Leu936=)
c.2951T= (p.Leu984=)
c.*2660T= (n.*2660T=)
c.2933T= (p.Leu978=)
c.2993T= (p.Leu998=)
c.2987T= (p.Leu996=)
n.2869T=
c.2915T= (p.Leu972=)
c.2885T= (p.Leu962=)
c.916T= (n.916T=)
c.3185T= (p.Leu1062=)
c.3194T= (p.Leu1065=)
c.2540T= (p.Leu847=)
c.2984T= (p.Leu995=)
9g.135784784G>ACA467820933KCNT1c.3051G>A (p.Leu1017=)
c.2892G>A (p.Leu964=)
c.2799G>A (p.Leu933=)
c.2808G>A (p.Leu936=)
c.2952G>A (p.Leu984=)
c.*2661G>A (n.*2661G>A)
c.2934G>A (p.Leu978=)
c.2994G>A (p.Leu998=)
c.2988G>A (p.Leu996=)
n.2870G>A
c.2916G>A (p.Leu972=)
c.2886G>A (p.Leu962=)
c.917G>A (n.917G>A)
c.3186G>A (p.Leu1062=)
c.3195G>A (p.Leu1065=)
c.2541G>A (p.Leu847=)
c.2985G>A (p.Leu995=)
9g.135784784G>CCA467820931KCNT1c.3051G>C (p.Leu1017=)
c.2892G>C (p.Leu964=)
c.2799G>C (p.Leu933=)
c.2808G>C (p.Leu936=)
c.2952G>C (p.Leu984=)
c.*2661G>C (n.*2661G>C)
c.2934G>C (p.Leu978=)
c.2994G>C (p.Leu998=)
c.2988G>C (p.Leu996=)
n.2870G>C
c.2916G>C (p.Leu972=)
c.2886G>C (p.Leu962=)
c.917G>C (n.917G>C)
c.3186G>C (p.Leu1062=)
c.3195G>C (p.Leu1065=)
c.2541G>C (p.Leu847=)
c.2985G>C (p.Leu995=)
9g.135784784G>TCA467820929KCNT1c.3051G>T (p.Leu1017=)
c.2892G>T (p.Leu964=)
c.2799G>T (p.Leu933=)
c.2808G>T (p.Leu936=)
c.2952G>T (p.Leu984=)
c.*2661G>T (n.*2661G>T)
c.2934G>T (p.Leu978=)
c.2994G>T (p.Leu998=)
c.2988G>T (p.Leu996=)
n.2870G>T
c.2916G>T (p.Leu972=)
c.2886G>T (p.Leu962=)
c.917G>T (n.917G>T)
c.3186G>T (p.Leu1062=)
c.3195G>T (p.Leu1065=)
c.2541G>T (p.Leu847=)
c.2985G>T (p.Leu995=)
9g.135784785T>ACA375518081KCNT1c.3052T>A (p.Trp1018Arg)
c.2893T>A (p.Trp965Arg)
c.2800T>A (p.Trp934Arg)
c.2809T>A (p.Trp937Arg)
c.2953T>A (p.Trp985Arg)
c.*2662T>A (n.*2662T>A)
c.2935T>A (p.Trp979Arg)
c.2995T>A (p.Trp999Arg)
c.2989T>A (p.Trp997Arg)
n.2871T>A
c.2917T>A (p.Trp973Arg)
c.2887T>A (p.Trp963Arg)
c.918T>A (n.918T>A)
c.3187T>A (p.Trp1063Arg)
c.3196T>A (p.Trp1066Arg)
c.2542T>A (p.Trp848Arg)
c.2986T>A (p.Trp996Arg)
 dbSNP gnomAD v3 gnomAD v4
9g.135784785T>CCA375518082KCNT1c.3052T>C (p.Trp1018Arg)
c.2893T>C (p.Trp965Arg)
c.2800T>C (p.Trp934Arg)
c.2809T>C (p.Trp937Arg)
c.2953T>C (p.Trp985Arg)
c.*2662T>C (n.*2662T>C)
c.2935T>C (p.Trp979Arg)
c.2995T>C (p.Trp999Arg)
c.2989T>C (p.Trp997Arg)
n.2871T>C
c.2917T>C (p.Trp973Arg)
c.2887T>C (p.Trp963Arg)
c.918T>C (n.918T>C)
c.3187T>C (p.Trp1063Arg)
c.3196T>C (p.Trp1066Arg)
c.2542T>C (p.Trp848Arg)
c.2986T>C (p.Trp996Arg)
9g.135784785T>GCA375518083KCNT1c.3052T>G (p.Trp1018Gly)
c.2893T>G (p.Trp965Gly)
c.2800T>G (p.Trp934Gly)
c.2809T>G (p.Trp937Gly)
c.2953T>G (p.Trp985Gly)
c.*2662T>G (n.*2662T>G)
c.2935T>G (p.Trp979Gly)
c.2995T>G (p.Trp999Gly)
c.2989T>G (p.Trp997Gly)
n.2871T>G
c.2917T>G (p.Trp973Gly)
c.2887T>G (p.Trp963Gly)
c.918T>G (n.918T>G)
c.3187T>G (p.Trp1063Gly)
c.3196T>G (p.Trp1066Gly)
c.2542T>G (p.Trp848Gly)
c.2986T>G (p.Trp996Gly)
9g.135784785T=CA1883884269KCNT1c.3052T= (p.Trp1018=)
c.2893T= (p.Trp965=)
c.2800T= (p.Trp934=)
c.2809T= (p.Trp937=)
c.2953T= (p.Trp985=)
c.*2662T= (n.*2662T=)
c.2935T= (p.Trp979=)
c.2995T= (p.Trp999=)
c.2989T= (p.Trp997=)
n.2871T=
c.2917T= (p.Trp973=)
c.2887T= (p.Trp963=)
c.918T= (n.918T=)
c.3187T= (p.Trp1063=)
c.3196T= (p.Trp1066=)
c.2542T= (p.Trp848=)
c.2986T= (p.Trp996=)
9g.135784786G>ACA375518084KCNT1c.3053G>A (p.Trp1018Ter)
c.2894G>A (p.Trp965Ter)
c.2801G>A (p.Trp934Ter)
c.2810G>A (p.Trp937Ter)
c.2954G>A (p.Trp985Ter)
c.*2663G>A (n.*2663G>A)
c.2936G>A (p.Trp979Ter)
c.2996G>A (p.Trp999Ter)
c.2990G>A (p.Trp997Ter)
n.2872G>A
c.2918G>A (p.Trp973Ter)
c.2888G>A (p.Trp963Ter)
c.919G>A (n.919G>A)
c.3188G>A (p.Trp1063Ter)
c.3197G>A (p.Trp1066Ter)
c.2543G>A (p.Trp848Ter)
c.2987G>A (p.Trp996Ter)
9g.135784786G>CCA375518085KCNT1c.3053G>C (p.Trp1018Ser)
c.2894G>C (p.Trp965Ser)
c.2801G>C (p.Trp934Ser)
c.2810G>C (p.Trp937Ser)
c.2954G>C (p.Trp985Ser)
c.*2663G>C (n.*2663G>C)
c.2936G>C (p.Trp979Ser)
c.2996G>C (p.Trp999Ser)
c.2990G>C (p.Trp997Ser)
n.2872G>C
c.2918G>C (p.Trp973Ser)
c.2888G>C (p.Trp963Ser)
c.919G>C (n.919G>C)
c.3188G>C (p.Trp1063Ser)
c.3197G>C (p.Trp1066Ser)
c.2543G>C (p.Trp848Ser)
c.2987G>C (p.Trp996Ser)
9g.135784786G>TCA375518086KCNT1c.3053G>T (p.Trp1018Leu)
c.2894G>T (p.Trp965Leu)
c.2801G>T (p.Trp934Leu)
c.2810G>T (p.Trp937Leu)
c.2954G>T (p.Trp985Leu)
c.*2663G>T (n.*2663G>T)
c.2936G>T (p.Trp979Leu)
c.2996G>T (p.Trp999Leu)
c.2990G>T (p.Trp997Leu)
n.2872G>T
c.2918G>T (p.Trp973Leu)
c.2888G>T (p.Trp963Leu)
c.919G>T (n.919G>T)
c.3188G>T (p.Trp1063Leu)
c.3197G>T (p.Trp1066Leu)
c.2543G>T (p.Trp848Leu)
c.2987G>T (p.Trp996Leu)
9g.135784787G>ACA375518089KCNT1c.3054G>A (p.Trp1018Ter)
c.2895G>A (p.Trp965Ter)
c.2802G>A (p.Trp934Ter)
c.2811G>A (p.Trp937Ter)
c.2955G>A (p.Trp985Ter)
c.*2664G>A (n.*2664G>A)
c.2937G>A (p.Trp979Ter)
c.2997G>A (p.Trp999Ter)
c.2991G>A (p.Trp997Ter)
n.2873G>A
c.2919G>A (p.Trp973Ter)
c.2889G>A (p.Trp963Ter)
c.920G>A (n.920G>A)
c.3189G>A (p.Trp1063Ter)
c.3198G>A (p.Trp1066Ter)
c.2544G>A (p.Trp848Ter)
c.2988G>A (p.Trp996Ter)
9g.135784787G>CCA375518088KCNT1c.3054G>C (p.Trp1018Cys)
c.2895G>C (p.Trp965Cys)
c.2802G>C (p.Trp934Cys)
c.2811G>C (p.Trp937Cys)
c.2955G>C (p.Trp985Cys)
c.*2664G>C (n.*2664G>C)
c.2937G>C (p.Trp979Cys)
c.2997G>C (p.Trp999Cys)
c.2991G>C (p.Trp997Cys)
n.2873G>C
c.2919G>C (p.Trp973Cys)
c.2889G>C (p.Trp963Cys)
c.920G>C (n.920G>C)
c.3189G>C (p.Trp1063Cys)
c.3198G>C (p.Trp1066Cys)
c.2544G>C (p.Trp848Cys)
c.2988G>C (p.Trp996Cys)
 dbSNP gnomAD v3 gnomAD v4
9g.135784787G=CA1883884272KCNT1c.3054G= (p.Trp1018=)
c.2895G= (p.Trp965=)
c.2802G= (p.Trp934=)
c.2811G= (p.Trp937=)
c.2955G= (p.Trp985=)
c.*2664G= (n.*2664G=)
c.2937G= (p.Trp979=)
c.2997G= (p.Trp999=)
c.2991G= (p.Trp997=)
n.2873G=
c.2919G= (p.Trp973=)
c.2889G= (p.Trp963=)
c.920G= (n.920G=)
c.3189G= (p.Trp1063=)
c.3198G= (p.Trp1066=)
c.2544G= (p.Trp848=)
c.2988G= (p.Trp996=)
9g.135784787G>TCA375518087KCNT1c.3054G>T (p.Trp1018Cys)
c.2895G>T (p.Trp965Cys)
c.2802G>T (p.Trp934Cys)
c.2811G>T (p.Trp937Cys)
c.2955G>T (p.Trp985Cys)
c.*2664G>T (n.*2664G>T)
c.2937G>T (p.Trp979Cys)
c.2997G>T (p.Trp999Cys)
c.2991G>T (p.Trp997Cys)
n.2873G>T
c.2919G>T (p.Trp973Cys)
c.2889G>T (p.Trp963Cys)
c.920G>T (n.920G>T)
c.3189G>T (p.Trp1063Cys)
c.3198G>T (p.Trp1066Cys)
c.2544G>T (p.Trp848Cys)
c.2988G>T (p.Trp996Cys)
9g.135784788A>CCA375518090KCNT1c.3055A>C (p.Ile1019Leu)
c.2896A>C (p.Ile966Leu)
c.2803A>C (p.Ile935Leu)
c.2812A>C (p.Ile938Leu)
c.2956A>C (p.Ile986Leu)
c.*2665A>C (n.*2665A>C)
c.2938A>C (p.Ile980Leu)
c.2998A>C (p.Ile1000Leu)
c.2992A>C (p.Ile998Leu)
n.2874A>C
c.2920A>C (p.Ile974Leu)
c.2890A>C (p.Ile964Leu)
c.921A>C (n.921A>C)
c.3190A>C (p.Ile1064Leu)
c.3199A>C (p.Ile1067Leu)
c.2545A>C (p.Ile849Leu)
c.2989A>C (p.Ile997Leu)
9g.135784788A>GCA375518091KCNT1c.3055A>G (p.Ile1019Val)
c.2896A>G (p.Ile966Val)
c.2803A>G (p.Ile935Val)
c.2812A>G (p.Ile938Val)
c.2956A>G (p.Ile986Val)
c.*2665A>G (n.*2665A>G)
c.2938A>G (p.Ile980Val)
c.2998A>G (p.Ile1000Val)
c.2992A>G (p.Ile998Val)
n.2874A>G
c.2920A>G (p.Ile974Val)
c.2890A>G (p.Ile964Val)
c.921A>G (n.921A>G)
c.3190A>G (p.Ile1064Val)
c.3199A>G (p.Ile1067Val)
c.2545A>G (p.Ile849Val)
c.2989A>G (p.Ile997Val)
9g.135784788A>TCA375518092KCNT1c.3055A>T (p.Ile1019Phe)
c.2896A>T (p.Ile966Phe)
c.2803A>T (p.Ile935Phe)
c.2812A>T (p.Ile938Phe)
c.2956A>T (p.Ile986Phe)
c.*2665A>T (n.*2665A>T)
c.2938A>T (p.Ile980Phe)
c.2998A>T (p.Ile1000Phe)
c.2992A>T (p.Ile998Phe)
n.2874A>T
c.2920A>T (p.Ile974Phe)
c.2890A>T (p.Ile964Phe)
c.921A>T (n.921A>T)
c.3190A>T (p.Ile1064Phe)
c.3199A>T (p.Ile1067Phe)
c.2545A>T (p.Ile849Phe)
c.2989A>T (p.Ile997Phe)
9g.135784789T>ACA375518093KCNT1c.3056T>A (p.Ile1019Asn)
c.2897T>A (p.Ile966Asn)
c.2804T>A (p.Ile935Asn)
c.2813T>A (p.Ile938Asn)
c.2957T>A (p.Ile986Asn)
c.*2666T>A (n.*2666T>A)
c.2939T>A (p.Ile980Asn)
c.2999T>A (p.Ile1000Asn)
c.2993T>A (p.Ile998Asn)
n.2875T>A
c.2921T>A (p.Ile974Asn)
c.2891T>A (p.Ile964Asn)
c.922T>A (n.922T>A)
c.3191T>A (p.Ile1064Asn)
c.3200T>A (p.Ile1067Asn)
c.2546T>A (p.Ile849Asn)
c.2990T>A (p.Ile997Asn)
9g.135784789T>CCA201483760KCNT1c.3056T>C (p.Ile1019Thr)
c.2897T>C (p.Ile966Thr)
c.2804T>C (p.Ile935Thr)
c.2813T>C (p.Ile938Thr)
c.2957T>C (p.Ile986Thr)
c.*2666T>C (n.*2666T>C)
c.2939T>C (p.Ile980Thr)
c.2999T>C (p.Ile1000Thr)
c.2993T>C (p.Ile998Thr)
n.2875T>C
c.2921T>C (p.Ile974Thr)
c.2891T>C (p.Ile964Thr)
c.922T>C (n.922T>C)
c.3191T>C (p.Ile1064Thr)
c.3200T>C (p.Ile1067Thr)
c.2546T>C (p.Ile849Thr)
c.2990T>C (p.Ile997Thr)
 dbSNP
9g.135784789T>GCA375518094KCNT1c.3056T>G (p.Ile1019Ser)
c.2897T>G (p.Ile966Ser)
c.2804T>G (p.Ile935Ser)
c.2813T>G (p.Ile938Ser)
c.2957T>G (p.Ile986Ser)
c.*2666T>G (n.*2666T>G)
c.2939T>G (p.Ile980Ser)
c.2999T>G (p.Ile1000Ser)
c.2993T>G (p.Ile998Ser)
n.2875T>G
c.2921T>G (p.Ile974Ser)
c.2891T>G (p.Ile964Ser)
c.922T>G (n.922T>G)
c.3191T>G (p.Ile1064Ser)
c.3200T>G (p.Ile1067Ser)
c.2546T>G (p.Ile849Ser)
c.2990T>G (p.Ile997Ser)
9g.135784789T=CA1883884280KCNT1c.3056T= (p.Ile1019=)
c.2897T= (p.Ile966=)
c.2804T= (p.Ile935=)
c.2813T= (p.Ile938=)
c.2957T= (p.Ile986=)
c.*2666T= (n.*2666T=)
c.2939T= (p.Ile980=)
c.2999T= (p.Ile1000=)
c.2993T= (p.Ile998=)
n.2875T=
c.2921T= (p.Ile974=)
c.2891T= (p.Ile964=)
c.922T= (n.922T=)
c.3191T= (p.Ile1064=)
c.3200T= (p.Ile1067=)
c.2546T= (p.Ile849=)
c.2990T= (p.Ile997=)
9g.135784790C>ACA467820938KCNT1c.3057C>A (p.Ile1019=)
c.2898C>A (p.Ile966=)
c.2805C>A (p.Ile935=)
c.2814C>A (p.Ile938=)
c.2958C>A (p.Ile986=)
c.*2667C>A (n.*2667C>A)
c.2940C>A (p.Ile980=)
c.3000C>A (p.Ile1000=)
c.2994C>A (p.Ile998=)
n.2876C>A
c.2922C>A (p.Ile974=)
c.2892C>A (p.Ile964=)
c.923C>A (n.923C>A)
c.3192C>A (p.Ile1064=)
c.3201C>A (p.Ile1067=)
c.2547C>A (p.Ile849=)
c.2991C>A (p.Ile997=)
 gnomAD v4
9g.135784790C>GCA375518095KCNT1c.3057C>G (p.Ile1019Met)
c.2898C>G (p.Ile966Met)
c.2805C>G (p.Ile935Met)
c.2814C>G (p.Ile938Met)
c.2958C>G (p.Ile986Met)
c.*2667C>G (n.*2667C>G)
c.2940C>G (p.Ile980Met)
c.3000C>G (p.Ile1000Met)
c.2994C>G (p.Ile998Met)
n.2876C>G
c.2922C>G (p.Ile974Met)
c.2892C>G (p.Ile964Met)
c.923C>G (n.923C>G)
c.3192C>G (p.Ile1064Met)
c.3201C>G (p.Ile1067Met)
c.2547C>G (p.Ile849Met)
c.2991C>G (p.Ile997Met)
9g.135784790C>TCA467820939KCNT1c.3057C>T (p.Ile1019=)
c.2898C>T (p.Ile966=)
c.2805C>T (p.Ile935=)
c.2814C>T (p.Ile938=)
c.2958C>T (p.Ile986=)
c.*2667C>T (n.*2667C>T)
c.2940C>T (p.Ile980=)
c.3000C>T (p.Ile1000=)
c.2994C>T (p.Ile998=)
n.2876C>T
c.2922C>T (p.Ile974=)
c.2892C>T (p.Ile964=)
c.923C>T (n.923C>T)
c.3192C>T (p.Ile1064=)
c.3201C>T (p.Ile1067=)
c.2547C>T (p.Ile849=)
c.2991C>T (p.Ile997=)
 COSMIC COSMIC
9g.135784791C>ACA375518096KCNT1c.3058C>A (p.Arg1020Ser)
c.2899C>A (p.Arg967Ser)
c.2806C>A (p.Arg936Ser)
c.2815C>A (p.Arg939Ser)
c.2959C>A (p.Arg987Ser)
c.*2668C>A (n.*2668C>A)
c.2941C>A (p.Arg981Ser)
c.3001C>A (p.Arg1001Ser)
c.2995C>A (p.Arg999Ser)
n.2877C>A
c.2923C>A (p.Arg975Ser)
c.2893C>A (p.Arg965Ser)
c.924C>A (n.924C>A)
c.3193C>A (p.Arg1065Ser)
c.3202C>A (p.Arg1068Ser)
c.2548C>A (p.Arg850Ser)
c.2992C>A (p.Arg998Ser)
9g.135784791C=CA1883884286KCNT1c.3058C= (p.Arg1020=)
c.2899C= (p.Arg967=)
c.2806C= (p.Arg936=)
c.2815C= (p.Arg939=)
c.2959C= (p.Arg987=)
c.*2668C= (n.*2668C=)
c.2941C= (p.Arg981=)
c.3001C= (p.Arg1001=)
c.2995C= (p.Arg999=)
n.2877C=
c.2923C= (p.Arg975=)
c.2893C= (p.Arg965=)
c.924C= (n.924C=)
c.3193C= (p.Arg1065=)
c.3202C= (p.Arg1068=)
c.2548C= (p.Arg850=)
c.2992C= (p.Arg998=)
9g.135784791C>GCA375518097KCNT1c.3058C>G (p.Arg1020Gly)
c.2899C>G (p.Arg967Gly)
c.2806C>G (p.Arg936Gly)
c.2815C>G (p.Arg939Gly)
c.2959C>G (p.Arg987Gly)
c.*2668C>G (n.*2668C>G)
c.2941C>G (p.Arg981Gly)
c.3001C>G (p.Arg1001Gly)
c.2995C>G (p.Arg999Gly)
n.2877C>G
c.2923C>G (p.Arg975Gly)
c.2893C>G (p.Arg965Gly)
c.924C>G (n.924C>G)
c.3193C>G (p.Arg1065Gly)
c.3202C>G (p.Arg1068Gly)
c.2548C>G (p.Arg850Gly)
c.2992C>G (p.Arg998Gly)
9g.135784791C>TCA5327598KCNT1c.3058C>T (p.Arg1020Cys)
c.2899C>T (p.Arg967Cys)
c.2806C>T (p.Arg936Cys)
c.2815C>T (p.Arg939Cys)
c.2959C>T (p.Arg987Cys)
c.*2668C>T (n.*2668C>T)
c.2941C>T (p.Arg981Cys)
c.3001C>T (p.Arg1001Cys)
c.2995C>T (p.Arg999Cys)
n.2877C>T
c.2923C>T (p.Arg975Cys)
c.2893C>T (p.Arg965Cys)
c.924C>T (n.924C>T)
c.3193C>T (p.Arg1065Cys)
c.3202C>T (p.Arg1068Cys)
c.2548C>T (p.Arg850Cys)
c.2992C>T (p.Arg998Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135784792G>ACA5327599KCNT1c.3059G>A (p.Arg1020His)
c.2900G>A (p.Arg967His)
c.2807G>A (p.Arg936His)
c.2816G>A (p.Arg939His)
c.2960G>A (p.Arg987His)
c.*2669G>A (n.*2669G>A)
c.2942G>A (p.Arg981His)
c.3002G>A (p.Arg1001His)
c.2996G>A (p.Arg999His)
n.2878G>A
c.2924G>A (p.Arg975His)
c.2894G>A (p.Arg965His)
c.925G>A (n.925G>A)
c.3194G>A (p.Arg1065His)
c.3203G>A (p.Arg1068His)
c.2549G>A (p.Arg850His)
c.2993G>A (p.Arg998His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.135784792G>CCA375518098KCNT1c.3059G>C (p.Arg1020Pro)
c.2900G>C (p.Arg967Pro)
c.2807G>C (p.Arg936Pro)
c.2816G>C (p.Arg939Pro)
c.2960G>C (p.Arg987Pro)
c.*2669G>C (n.*2669G>C)
c.2942G>C (p.Arg981Pro)
c.3002G>C (p.Arg1001Pro)
c.2996G>C (p.Arg999Pro)
n.2878G>C
c.2924G>C (p.Arg975Pro)
c.2894G>C (p.Arg965Pro)
c.925G>C (n.925G>C)
c.3194G>C (p.Arg1065Pro)
c.3203G>C (p.Arg1068Pro)
c.2549G>C (p.Arg850Pro)
c.2993G>C (p.Arg998Pro)
9g.135784792G=CA1883884291KCNT1c.3059G= (p.Arg1020=)
c.2900G= (p.Arg967=)
c.2807G= (p.Arg936=)
c.2816G= (p.Arg939=)
c.2960G= (p.Arg987=)
c.*2669G= (n.*2669G=)
c.2942G= (p.Arg981=)
c.3002G= (p.Arg1001=)
c.2996G= (p.Arg999=)
n.2878G=
c.2924G= (p.Arg975=)
c.2894G= (p.Arg965=)
c.925G= (n.925G=)
c.3194G= (p.Arg1065=)
c.3203G= (p.Arg1068=)
c.2549G= (p.Arg850=)
c.2993G= (p.Arg998=)
9g.135784792G>TCA375518099KCNT1c.3059G>T (p.Arg1020Leu)
c.2900G>T (p.Arg967Leu)
c.2807G>T (p.Arg936Leu)
c.2816G>T (p.Arg939Leu)
c.2960G>T (p.Arg987Leu)
c.*2669G>T (n.*2669G>T)
c.2942G>T (p.Arg981Leu)
c.3002G>T (p.Arg1001Leu)
c.2996G>T (p.Arg999Leu)
n.2878G>T
c.2924G>T (p.Arg975Leu)
c.2894G>T (p.Arg965Leu)
c.925G>T (n.925G>T)
c.3194G>T (p.Arg1065Leu)
c.3203G>T (p.Arg1068Leu)
c.2549G>T (p.Arg850Leu)
c.2993G>T (p.Arg998Leu)
9g.135784793C>ACA5327601KCNT1c.3060C>A (p.Arg1020=)
c.2901C>A (p.Arg967=)
c.2808C>A (p.Arg936=)
c.2817C>A (p.Arg939=)
c.2961C>A (p.Arg987=)
c.*2670C>A (n.*2670C>A)
c.2943C>A (p.Arg981=)
c.3003C>A (p.Arg1001=)
c.2997C>A (p.Arg999=)
n.2879C>A
c.2925C>A (p.Arg975=)
c.2895C>A (p.Arg965=)
c.926C>A (n.926C>A)
c.3195C>A (p.Arg1065=)
c.3204C>A (p.Arg1068=)
c.2550C>A (p.Arg850=)
c.2994C>A (p.Arg998=)
 dbSNP ExAC gnomAD v2
9g.135784793C=CA1883884296KCNT1c.3060C= (p.Arg1020=)
c.2901C= (p.Arg967=)
c.2808C= (p.Arg936=)
c.2817C= (p.Arg939=)
c.2961C= (p.Arg987=)
c.*2670C= (n.*2670C=)
c.2943C= (p.Arg981=)
c.3003C= (p.Arg1001=)
c.2997C= (p.Arg999=)
n.2879C=
c.2925C= (p.Arg975=)
c.2895C= (p.Arg965=)
c.926C= (n.926C=)
c.3195C= (p.Arg1065=)
c.3204C= (p.Arg1068=)
c.2550C= (p.Arg850=)
c.2994C= (p.Arg998=)
9g.135784793C>GCA467820944KCNT1c.3060C>G (p.Arg1020=)
c.2901C>G (p.Arg967=)
c.2808C>G (p.Arg936=)
c.2817C>G (p.Arg939=)
c.2961C>G (p.Arg987=)
c.*2670C>G (n.*2670C>G)
c.2943C>G (p.Arg981=)
c.3003C>G (p.Arg1001=)
c.2997C>G (p.Arg999=)
n.2879C>G
c.2925C>G (p.Arg975=)
c.2895C>G (p.Arg965=)
c.926C>G (n.926C>G)
c.3195C>G (p.Arg1065=)
c.3204C>G (p.Arg1068=)
c.2550C>G (p.Arg850=)
c.2994C>G (p.Arg998=)
9g.135784793C>TCA5327600KCNT1c.3060C>T (p.Arg1020=)
c.2901C>T (p.Arg967=)
c.2808C>T (p.Arg936=)
c.2817C>T (p.Arg939=)
c.2961C>T (p.Arg987=)
c.*2670C>T (n.*2670C>T)
c.2943C>T (p.Arg981=)
c.3003C>T (p.Arg1001=)
c.2997C>T (p.Arg999=)
n.2879C>T
c.2925C>T (p.Arg975=)
c.2895C>T (p.Arg965=)
c.926C>T (n.926C>T)
c.3195C>T (p.Arg1065=)
c.3204C>T (p.Arg1068=)
c.2550C>T (p.Arg850=)
c.2994C>T (p.Arg998=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135784794A>CCA375518100KCNT1c.3061A>C (p.Thr1021Pro)
c.2902A>C (p.Thr968Pro)
c.2809A>C (p.Thr937Pro)
c.2818A>C (p.Thr940Pro)
c.2962A>C (p.Thr988Pro)
c.*2671A>C (n.*2671A>C)
c.2944A>C (p.Thr982Pro)
c.3004A>C (p.Thr1002Pro)
c.2998A>C (p.Thr1000Pro)
n.2880A>C
c.2926A>C (p.Thr976Pro)
c.2896A>C (p.Thr966Pro)
c.927A>C (n.927A>C)
c.3196A>C (p.Thr1066Pro)
c.3205A>C (p.Thr1069Pro)
c.2551A>C (p.Thr851Pro)
c.2995A>C (p.Thr999Pro)
9g.135784794A>GCA375518101KCNT1c.3061A>G (p.Thr1021Ala)
c.2902A>G (p.Thr968Ala)
c.2809A>G (p.Thr937Ala)
c.2818A>G (p.Thr940Ala)
c.2962A>G (p.Thr988Ala)
c.*2671A>G (n.*2671A>G)
c.2944A>G (p.Thr982Ala)
c.3004A>G (p.Thr1002Ala)
c.2998A>G (p.Thr1000Ala)
n.2880A>G
c.2926A>G (p.Thr976Ala)
c.2896A>G (p.Thr966Ala)
c.927A>G (n.927A>G)
c.3196A>G (p.Thr1066Ala)
c.3205A>G (p.Thr1069Ala)
c.2551A>G (p.Thr851Ala)
c.2995A>G (p.Thr999Ala)
9g.135784794A>TCA375518102KCNT1c.3061A>T (p.Thr1021Ser)
c.2902A>T (p.Thr968Ser)
c.2809A>T (p.Thr937Ser)
c.2818A>T (p.Thr940Ser)
c.2962A>T (p.Thr988Ser)
c.*2671A>T (n.*2671A>T)
c.2944A>T (p.Thr982Ser)
c.3004A>T (p.Thr1002Ser)
c.2998A>T (p.Thr1000Ser)
n.2880A>T
c.2926A>T (p.Thr976Ser)
c.2896A>T (p.Thr966Ser)
c.927A>T (n.927A>T)
c.3196A>T (p.Thr1066Ser)
c.3205A>T (p.Thr1069Ser)
c.2551A>T (p.Thr851Ser)
c.2995A>T (p.Thr999Ser)
9g.135784795C>ACA375518103KCNT1c.3062C>A (p.Thr1021Lys)
c.2903C>A (p.Thr968Lys)
c.2810C>A (p.Thr937Lys)
c.2819C>A (p.Thr940Lys)
c.2963C>A (p.Thr988Lys)
c.*2672C>A (n.*2672C>A)
c.2945C>A (p.Thr982Lys)
c.3005C>A (p.Thr1002Lys)
c.2999C>A (p.Thr1000Lys)
n.2881C>A
c.2927C>A (p.Thr976Lys)
c.2897C>A (p.Thr966Lys)
c.928C>A (n.928C>A)
c.3197C>A (p.Thr1066Lys)
c.3206C>A (p.Thr1069Lys)
c.2552C>A (p.Thr851Lys)
c.2996C>A (p.Thr999Lys)
 dbSNP gnomAD v4
9g.135784795C=CA1883884299KCNT1c.3062C= (p.Thr1021=)
c.2903C= (p.Thr968=)
c.2810C= (p.Thr937=)
c.2819C= (p.Thr940=)
c.2963C= (p.Thr988=)
c.*2672C= (n.*2672C=)
c.2945C= (p.Thr982=)
c.3005C= (p.Thr1002=)
c.2999C= (p.Thr1000=)
n.2881C=
c.2927C= (p.Thr976=)
c.2897C= (p.Thr966=)
c.928C= (n.928C=)
c.3197C= (p.Thr1066=)
c.3206C= (p.Thr1069=)
c.2552C= (p.Thr851=)
c.2996C= (p.Thr999=)
9g.135784795C>GCA5327602KCNT1c.3062C>G (p.Thr1021Arg)
c.2903C>G (p.Thr968Arg)
c.2810C>G (p.Thr937Arg)
c.2819C>G (p.Thr940Arg)
c.2963C>G (p.Thr988Arg)
c.*2672C>G (n.*2672C>G)
c.2945C>G (p.Thr982Arg)
c.3005C>G (p.Thr1002Arg)
c.2999C>G (p.Thr1000Arg)
n.2881C>G
c.2927C>G (p.Thr976Arg)
c.2897C>G (p.Thr966Arg)
c.928C>G (n.928C>G)
c.3197C>G (p.Thr1066Arg)
c.3206C>G (p.Thr1069Arg)
c.2552C>G (p.Thr851Arg)
c.2996C>G (p.Thr999Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135784795C>TCA375518104KCNT1c.3062C>T (p.Thr1021Met)
c.2903C>T (p.Thr968Met)
c.2810C>T (p.Thr937Met)
c.2819C>T (p.Thr940Met)
c.2963C>T (p.Thr988Met)
c.*2672C>T (n.*2672C>T)
c.2945C>T (p.Thr982Met)
c.3005C>T (p.Thr1002Met)
c.2999C>T (p.Thr1000Met)
n.2881C>T
c.2927C>T (p.Thr976Met)
c.2897C>T (p.Thr966Met)
c.928C>T (n.928C>T)
c.3197C>T (p.Thr1066Met)
c.3206C>T (p.Thr1069Met)
c.2552C>T (p.Thr851Met)
c.2996C>T (p.Thr999Met)
 dbSNP gnomAD v4
9g.135784796G>ACA5327603KCNT1c.3063G>A (p.Thr1021=)
c.2904G>A (p.Thr968=)
c.2811G>A (p.Thr937=)
c.2820G>A (p.Thr940=)
c.2964G>A (p.Thr988=)
c.*2673G>A (n.*2673G>A)
c.2946G>A (p.Thr982=)
c.3006G>A (p.Thr1002=)
c.3000G>A (p.Thr1000=)
n.2882G>A
c.2928G>A (p.Thr976=)
c.2898G>A (p.Thr966=)
c.929G>A (n.929G>A)
c.3198G>A (p.Thr1066=)
c.3207G>A (p.Thr1069=)
c.2553G>A (p.Thr851=)
c.2997G>A (p.Thr999=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.135784796G>CCA467820946KCNT1c.3063G>C (p.Thr1021=)
c.2904G>C (p.Thr968=)
c.2811G>C (p.Thr937=)
c.2820G>C (p.Thr940=)
c.2964G>C (p.Thr988=)
c.*2673G>C (n.*2673G>C)
c.2946G>C (p.Thr982=)
c.3006G>C (p.Thr1002=)
c.3000G>C (p.Thr1000=)
n.2882G>C
c.2928G>C (p.Thr976=)
c.2898G>C (p.Thr966=)
c.929G>C (n.929G>C)
c.3198G>C (p.Thr1066=)
c.3207G>C (p.Thr1069=)
c.2553G>C (p.Thr851=)
c.2997G>C (p.Thr999=)
9g.135784796G=CA1883884308KCNT1c.3063G= (p.Thr1021=)
c.2904G= (p.Thr968=)
c.2811G= (p.Thr937=)
c.2820G= (p.Thr940=)
c.2964G= (p.Thr988=)
c.*2673G= (n.*2673G=)
c.2946G= (p.Thr982=)
c.3006G= (p.Thr1002=)
c.3000G= (p.Thr1000=)
n.2882G=
c.2928G= (p.Thr976=)
c.2898G= (p.Thr966=)
c.929G= (n.929G=)
c.3198G= (p.Thr1066=)
c.3207G= (p.Thr1069=)
c.2553G= (p.Thr851=)
c.2997G= (p.Thr999=)
9g.135784796G>TCA467820947KCNT1c.3063G>T (p.Thr1021=)
c.2904G>T (p.Thr968=)
c.2811G>T (p.Thr937=)
c.2820G>T (p.Thr940=)
c.2964G>T (p.Thr988=)
c.*2673G>T (n.*2673G>T)
c.2946G>T (p.Thr982=)
c.3006G>T (p.Thr1002=)
c.3000G>T (p.Thr1000=)
n.2882G>T
c.2928G>T (p.Thr976=)
c.2898G>T (p.Thr966=)
c.929G>T (n.929G>T)
c.3198G>T (p.Thr1066=)
c.3207G>T (p.Thr1069=)
c.2553G>T (p.Thr851=)
c.2997G>T (p.Thr999=)
9g.135784797T>ACA375518105KCNT1c.3064T>A (p.Tyr1022Asn)
c.2905T>A (p.Tyr969Asn)
c.2812T>A (p.Tyr938Asn)
c.2821T>A (p.Tyr941Asn)
c.2965T>A (p.Tyr989Asn)
c.*2674T>A (n.*2674T>A)
c.2947T>A (p.Tyr983Asn)
c.3007T>A (p.Tyr1003Asn)
c.3001T>A (p.Tyr1001Asn)
n.2883T>A
c.2929T>A (p.Tyr977Asn)
c.2899T>A (p.Tyr967Asn)
c.930T>A (n.930T>A)
c.3199T>A (p.Tyr1067Asn)
c.3208T>A (p.Tyr1070Asn)
c.2554T>A (p.Tyr852Asn)
c.2998T>A (p.Tyr1000Asn)
9g.135784797T>CCA375518106KCNT1c.3064T>C (p.Tyr1022His)
c.2905T>C (p.Tyr969His)
c.2812T>C (p.Tyr938His)
c.2821T>C (p.Tyr941His)
c.2965T>C (p.Tyr989His)
c.*2674T>C (n.*2674T>C)
c.2947T>C (p.Tyr983His)
c.3007T>C (p.Tyr1003His)
c.3001T>C (p.Tyr1001His)
n.2883T>C
c.2929T>C (p.Tyr977His)
c.2899T>C (p.Tyr967His)
c.930T>C (n.930T>C)
c.3199T>C (p.Tyr1067His)
c.3208T>C (p.Tyr1070His)
c.2554T>C (p.Tyr852His)
c.2998T>C (p.Tyr1000His)
9g.135784797T>GCA375518107KCNT1c.3064T>G (p.Tyr1022Asp)
c.2905T>G (p.Tyr969Asp)
c.2812T>G (p.Tyr938Asp)
c.2821T>G (p.Tyr941Asp)
c.2965T>G (p.Tyr989Asp)
c.*2674T>G (n.*2674T>G)
c.2947T>G (p.Tyr983Asp)
c.3007T>G (p.Tyr1003Asp)
c.3001T>G (p.Tyr1001Asp)
n.2883T>G
c.2929T>G (p.Tyr977Asp)
c.2899T>G (p.Tyr967Asp)
c.930T>G (n.930T>G)
c.3199T>G (p.Tyr1067Asp)
c.3208T>G (p.Tyr1070Asp)
c.2554T>G (p.Tyr852Asp)
c.2998T>G (p.Tyr1000Asp)
9g.135784798A>CCA375518108KCNT1c.3065A>C (p.Tyr1022Ser)
c.2906A>C (p.Tyr969Ser)
c.2813A>C (p.Tyr938Ser)
c.2822A>C (p.Tyr941Ser)
c.2966A>C (p.Tyr989Ser)
c.*2675A>C (n.*2675A>C)
c.2948A>C (p.Tyr983Ser)
c.3008A>C (p.Tyr1003Ser)
c.3002A>C (p.Tyr1001Ser)
n.2884A>C
c.2930A>C (p.Tyr977Ser)
c.2900A>C (p.Tyr967Ser)
c.931A>C (n.931A>C)
c.3200A>C (p.Tyr1067Ser)
c.3209A>C (p.Tyr1070Ser)
c.2555A>C (p.Tyr852Ser)
c.2999A>C (p.Tyr1000Ser)
9g.135784798A>GCA375518109KCNT1c.3065A>G (p.Tyr1022Cys)
c.2906A>G (p.Tyr969Cys)
c.2813A>G (p.Tyr938Cys)
c.2822A>G (p.Tyr941Cys)
c.2966A>G (p.Tyr989Cys)
c.*2675A>G (n.*2675A>G)
c.2948A>G (p.Tyr983Cys)
c.3008A>G (p.Tyr1003Cys)
c.3002A>G (p.Tyr1001Cys)
n.2884A>G
c.2930A>G (p.Tyr977Cys)
c.2900A>G (p.Tyr967Cys)
c.931A>G (n.931A>G)
c.3200A>G (p.Tyr1067Cys)
c.3209A>G (p.Tyr1070Cys)
c.2555A>G (p.Tyr852Cys)
c.2999A>G (p.Tyr1000Cys)
9g.135784798A>TCA375518110KCNT1c.3065A>T (p.Tyr1022Phe)
c.2906A>T (p.Tyr969Phe)
c.2813A>T (p.Tyr938Phe)
c.2822A>T (p.Tyr941Phe)
c.2966A>T (p.Tyr989Phe)
c.*2675A>T (n.*2675A>T)
c.2948A>T (p.Tyr983Phe)
c.3008A>T (p.Tyr1003Phe)
c.3002A>T (p.Tyr1001Phe)
n.2884A>T
c.2930A>T (p.Tyr977Phe)
c.2900A>T (p.Tyr967Phe)
c.931A>T (n.931A>T)
c.3200A>T (p.Tyr1067Phe)
c.3209A>T (p.Tyr1070Phe)
c.2555A>T (p.Tyr852Phe)
c.2999A>T (p.Tyr1000Phe)
9g.135784799C>ACA375518112KCNT1c.3066C>A (p.Tyr1022Ter)
c.2907C>A (p.Tyr969Ter)
c.2814C>A (p.Tyr938Ter)
c.2823C>A (p.Tyr941Ter)
c.2967C>A (p.Tyr989Ter)
c.*2676C>A (n.*2676C>A)
c.2949C>A (p.Tyr983Ter)
c.3009C>A (p.Tyr1003Ter)
c.3003C>A (p.Tyr1001Ter)
n.2885C>A
c.2931C>A (p.Tyr977Ter)
c.2901C>A (p.Tyr967Ter)
c.932C>A (n.932C>A)
c.3201C>A (p.Tyr1067Ter)
c.3210C>A (p.Tyr1070Ter)
c.2556C>A (p.Tyr852Ter)
c.3000C>A (p.Tyr1000Ter)
9g.135784799C=CA1883884313KCNT1c.3066C= (p.Tyr1022=)
c.2907C= (p.Tyr969=)
c.2814C= (p.Tyr938=)
c.2823C= (p.Tyr941=)
c.2967C= (p.Tyr989=)
c.*2676C= (n.*2676C=)
c.2949C= (p.Tyr983=)
c.3009C= (p.Tyr1003=)
c.3003C= (p.Tyr1001=)
n.2885C=
c.2931C= (p.Tyr977=)
c.2901C= (p.Tyr967=)
c.932C= (n.932C=)
c.3201C= (p.Tyr1067=)
c.3210C= (p.Tyr1070=)
c.2556C= (p.Tyr852=)
c.3000C= (p.Tyr1000=)
9g.135784799C>GCA375518111KCNT1c.3066C>G (p.Tyr1022Ter)
c.2907C>G (p.Tyr969Ter)
c.2814C>G (p.Tyr938Ter)
c.2823C>G (p.Tyr941Ter)
c.2967C>G (p.Tyr989Ter)
c.*2676C>G (n.*2676C>G)
c.2949C>G (p.Tyr983Ter)
c.3009C>G (p.Tyr1003Ter)
c.3003C>G (p.Tyr1001Ter)
n.2885C>G
c.2931C>G (p.Tyr977Ter)
c.2901C>G (p.Tyr967Ter)
c.932C>G (n.932C>G)
c.3201C>G (p.Tyr1067Ter)
c.3210C>G (p.Tyr1070Ter)
c.2556C>G (p.Tyr852Ter)
c.3000C>G (p.Tyr1000Ter)
9g.135784799C>TCA5327604KCNT1c.3066C>T (p.Tyr1022=)
c.2907C>T (p.Tyr969=)
c.2814C>T (p.Tyr938=)
c.2823C>T (p.Tyr941=)
c.2967C>T (p.Tyr989=)
c.*2676C>T (n.*2676C>T)
c.2949C>T (p.Tyr983=)
c.3009C>T (p.Tyr1003=)
c.3003C>T (p.Tyr1001=)
n.2885C>T
c.2931C>T (p.Tyr977=)
c.2901C>T (p.Tyr967=)
c.932C>T (n.932C>T)
c.3201C>T (p.Tyr1067=)
c.3210C>T (p.Tyr1070=)
c.2556C>T (p.Tyr852=)
c.3000C>T (p.Tyr1000=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.135784800G>ACA5327605KCNT1c.3067G>A (p.Gly1023Ser)
c.2908G>A (p.Gly970Ser)
c.2815G>A (p.Gly939Ser)
c.2824G>A (p.Gly942Ser)
c.2968G>A (p.Gly990Ser)
c.*2677G>A (n.*2677G>A)
c.2950G>A (p.Gly984Ser)
c.3010G>A (p.Gly1004Ser)
c.3004G>A (p.Gly1002Ser)
n.2886G>A
c.2932G>A (p.Gly978Ser)
c.2902G>A (p.Gly968Ser)
c.933G>A (n.933G>A)
c.3202G>A (p.Gly1068Ser)
c.3211G>A (p.Gly1071Ser)
c.2557G>A (p.Gly853Ser)
c.3001G>A (p.Gly1001Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135784800G>CCA375518114KCNT1c.3067G>C (p.Gly1023Arg)
c.2908G>C (p.Gly970Arg)
c.2815G>C (p.Gly939Arg)
c.2824G>C (p.Gly942Arg)
c.2968G>C (p.Gly990Arg)
c.*2677G>C (n.*2677G>C)
c.2950G>C (p.Gly984Arg)
c.3010G>C (p.Gly1004Arg)
c.3004G>C (p.Gly1002Arg)
n.2886G>C
c.2932G>C (p.Gly978Arg)
c.2902G>C (p.Gly968Arg)
c.933G>C (n.933G>C)
c.3202G>C (p.Gly1068Arg)
c.3211G>C (p.Gly1071Arg)
c.2557G>C (p.Gly853Arg)
c.3001G>C (p.Gly1001Arg)
9g.135784800G=CA1883884324KCNT1c.3067G= (p.Gly1023=)
c.2908G= (p.Gly970=)
c.2815G= (p.Gly939=)
c.2824G= (p.Gly942=)
c.2968G= (p.Gly990=)
c.*2677G= (n.*2677G=)
c.2950G= (p.Gly984=)
c.3010G= (p.Gly1004=)
c.3004G= (p.Gly1002=)
n.2886G=
c.2932G= (p.Gly978=)
c.2902G= (p.Gly968=)
c.933G= (n.933G=)
c.3202G= (p.Gly1068=)
c.3211G= (p.Gly1071=)
c.2557G= (p.Gly853=)
c.3001G= (p.Gly1001=)
9g.135784800G>TCA375518113KCNT1c.3067G>T (p.Gly1023Cys)
c.2908G>T (p.Gly970Cys)
c.2815G>T (p.Gly939Cys)
c.2824G>T (p.Gly942Cys)
c.2968G>T (p.Gly990Cys)
c.*2677G>T (n.*2677G>T)
c.2950G>T (p.Gly984Cys)
c.3010G>T (p.Gly1004Cys)
c.3004G>T (p.Gly1002Cys)
n.2886G>T
c.2932G>T (p.Gly978Cys)
c.2902G>T (p.Gly968Cys)
c.933G>T (n.933G>T)
c.3202G>T (p.Gly1068Cys)
c.3211G>T (p.Gly1071Cys)
c.2557G>T (p.Gly853Cys)
c.3001G>T (p.Gly1001Cys)
9g.135784801delCA2692521908KCNT1c.3068del (p.Gly1023AlafsTer?)
c.2909del (p.Gly970AlafsTer?)
c.2816del (p.Gly939AlafsTer?)
c.2825del (p.Gly942AlafsTer?)
c.2969del (p.Gly990AlafsTer?)
c.*2678del (n.*2678del)
c.2951del (p.Gly984AlafsTer?)
c.3011del (p.Gly1004AlafsTer?)
c.3005del (p.Gly1002AlafsTer?)
n.2887del
c.2933del (p.Gly978AlafsTer?)
c.2903del (p.Gly968AlafsTer?)
c.934del (n.934del)
c.3203del (p.Gly1068AlafsTer?)
c.3212del (p.Gly1071AlafsTer?)
c.2558del (p.Gly853AlafsTer?)
c.3002del (p.Gly1001AlafsTer?)
 gnomAD v4
9g.135784801G>ACA375518115KCNT1c.3068G>A (p.Gly1023Asp)
c.2909G>A (p.Gly970Asp)
c.2816G>A (p.Gly939Asp)
c.2825G>A (p.Gly942Asp)
c.2969G>A (p.Gly990Asp)
c.*2678G>A (n.*2678G>A)
c.2951G>A (p.Gly984Asp)
c.3011G>A (p.Gly1004Asp)
c.3005G>A (p.Gly1002Asp)
n.2887G>A
c.2933G>A (p.Gly978Asp)
c.2903G>A (p.Gly968Asp)
c.934G>A (n.934G>A)
c.3203G>A (p.Gly1068Asp)
c.3212G>A (p.Gly1071Asp)
c.2558G>A (p.Gly853Asp)
c.3002G>A (p.Gly1001Asp)
9g.135784801G>CCA375518117KCNT1c.3068G>C (p.Gly1023Ala)
c.2909G>C (p.Gly970Ala)
c.2816G>C (p.Gly939Ala)
c.2825G>C (p.Gly942Ala)
c.2969G>C (p.Gly990Ala)
c.*2678G>C (n.*2678G>C)
c.2951G>C (p.Gly984Ala)
c.3011G>C (p.Gly1004Ala)
c.3005G>C (p.Gly1002Ala)
n.2887G>C
c.2933G>C (p.Gly978Ala)
c.2903G>C (p.Gly968Ala)
c.934G>C (n.934G>C)
c.3203G>C (p.Gly1068Ala)
c.3212G>C (p.Gly1071Ala)
c.2558G>C (p.Gly853Ala)
c.3002G>C (p.Gly1001Ala)
9g.135784801G>TCA375518116KCNT1c.3068G>T (p.Gly1023Val)
c.2909G>T (p.Gly970Val)
c.2816G>T (p.Gly939Val)
c.2825G>T (p.Gly942Val)
c.2969G>T (p.Gly990Val)
c.*2678G>T (n.*2678G>T)
c.2951G>T (p.Gly984Val)
c.3011G>T (p.Gly1004Val)
c.3005G>T (p.Gly1002Val)
n.2887G>T
c.2933G>T (p.Gly978Val)
c.2903G>T (p.Gly968Val)
c.934G>T (n.934G>T)
c.3203G>T (p.Gly1068Val)
c.3212G>T (p.Gly1071Val)
c.2558G>T (p.Gly853Val)
c.3002G>T (p.Gly1001Val)
9g.135784802C>ACA467820955KCNT1c.3069C>A (p.Gly1023=)
c.2910C>A (p.Gly970=)
c.2817C>A (p.Gly939=)
c.2826C>A (p.Gly942=)
c.2970C>A (p.Gly990=)
c.*2679C>A (n.*2679C>A)
c.2952C>A (p.Gly984=)
c.3012C>A (p.Gly1004=)
c.3006C>A (p.Gly1002=)
n.2888C>A
c.2934C>A (p.Gly978=)
c.2904C>A (p.Gly968=)
c.935C>A (n.935C>A)
c.3204C>A (p.Gly1068=)
c.3213C>A (p.Gly1071=)
c.2559C>A (p.Gly853=)
c.3003C>A (p.Gly1001=)
9g.135784802C>GCA467820954KCNT1c.3069C>G (p.Gly1023=)
c.2910C>G (p.Gly970=)
c.2817C>G (p.Gly939=)
c.2826C>G (p.Gly942=)
c.2970C>G (p.Gly990=)
c.*2679C>G (n.*2679C>G)
c.2952C>G (p.Gly984=)
c.3012C>G (p.Gly1004=)
c.3006C>G (p.Gly1002=)
n.2888C>G
c.2934C>G (p.Gly978=)
c.2904C>G (p.Gly968=)
c.935C>G (n.935C>G)
c.3204C>G (p.Gly1068=)
c.3213C>G (p.Gly1071=)
c.2559C>G (p.Gly853=)
c.3003C>G (p.Gly1001=)
9g.135784802C>TCA467820953KCNT1c.3069C>T (p.Gly1023=)
c.2910C>T (p.Gly970=)
c.2817C>T (p.Gly939=)
c.2826C>T (p.Gly942=)
c.2970C>T (p.Gly990=)
c.*2679C>T (n.*2679C>T)
c.2952C>T (p.Gly984=)
c.3012C>T (p.Gly1004=)
c.3006C>T (p.Gly1002=)
n.2888C>T
c.2934C>T (p.Gly978=)
c.2904C>T (p.Gly968=)
c.935C>T (n.935C>T)
c.3204C>T (p.Gly1068=)
c.3213C>T (p.Gly1071=)
c.2559C>T (p.Gly853=)
c.3003C>T (p.Gly1001=)
9g.135784803C>ACA375518118KCNT1c.3070C>A (p.Arg1024Ser)
c.2911C>A (p.Arg971Ser)
c.2818C>A (p.Arg940Ser)
c.2827C>A (p.Arg943Ser)
c.2971C>A (p.Arg991Ser)
c.*2680C>A (n.*2680C>A)
c.2953C>A (p.Arg985Ser)
c.3013C>A (p.Arg1005Ser)
c.3007C>A (p.Arg1003Ser)
n.2889C>A
c.2935C>A (p.Arg979Ser)
c.2905C>A (p.Arg969Ser)
c.936C>A (n.936C>A)
c.3205C>A (p.Arg1069Ser)
c.3214C>A (p.Arg1072Ser)
c.2560C>A (p.Arg854Ser)
c.3004C>A (p.Arg1002Ser)
9g.135784803C=CA1883884325KCNT1c.3070C= (p.Arg1024=)
c.2911C= (p.Arg971=)
c.2818C= (p.Arg940=)
c.2827C= (p.Arg943=)
c.2971C= (p.Arg991=)
c.*2680C= (n.*2680C=)
c.2953C= (p.Arg985=)
c.3013C= (p.Arg1005=)
c.3007C= (p.Arg1003=)
n.2889C=
c.2935C= (p.Arg979=)
c.2905C= (p.Arg969=)
c.936C= (n.936C=)
c.3205C= (p.Arg1069=)
c.3214C= (p.Arg1072=)
c.2560C= (p.Arg854=)
c.3004C= (p.Arg1002=)
9g.135784803C>GCA375518119KCNT1c.3070C>G (p.Arg1024Gly)
c.2911C>G (p.Arg971Gly)
c.2818C>G (p.Arg940Gly)
c.2827C>G (p.Arg943Gly)
c.2971C>G (p.Arg991Gly)
c.*2680C>G (n.*2680C>G)
c.2953C>G (p.Arg985Gly)
c.3013C>G (p.Arg1005Gly)
c.3007C>G (p.Arg1003Gly)
n.2889C>G
c.2935C>G (p.Arg979Gly)
c.2905C>G (p.Arg969Gly)
c.936C>G (n.936C>G)
c.3205C>G (p.Arg1069Gly)
c.3214C>G (p.Arg1072Gly)
c.2560C>G (p.Arg854Gly)
c.3004C>G (p.Arg1002Gly)
9g.135784803C>TCA5327606KCNT1c.3070C>T (p.Arg1024Cys)
c.2911C>T (p.Arg971Cys)
c.2818C>T (p.Arg940Cys)
c.2827C>T (p.Arg943Cys)
c.2971C>T (p.Arg991Cys)
c.*2680C>T (n.*2680C>T)
c.2953C>T (p.Arg985Cys)
c.3013C>T (p.Arg1005Cys)
c.3007C>T (p.Arg1003Cys)
n.2889C>T
c.2935C>T (p.Arg979Cys)
c.2905C>T (p.Arg969Cys)
c.936C>T (n.936C>T)
c.3205C>T (p.Arg1069Cys)
c.3214C>T (p.Arg1072Cys)
c.2560C>T (p.Arg854Cys)
c.3004C>T (p.Arg1002Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135784804G>ACA5327607KCNT1c.3071G>A (p.Arg1024His)
c.2912G>A (p.Arg971His)
c.2819G>A (p.Arg940His)
c.2828G>A (p.Arg943His)
c.2972G>A (p.Arg991His)
c.*2681G>A (n.*2681G>A)
c.2954G>A (p.Arg985His)
c.3014G>A (p.Arg1005His)
c.3008G>A (p.Arg1003His)
n.2890G>A
c.2936G>A (p.Arg979His)
c.2906G>A (p.Arg969His)
c.937G>A (n.937G>A)
c.3206G>A (p.Arg1069His)
c.3215G>A (p.Arg1072His)
c.2561G>A (p.Arg854His)
c.3005G>A (p.Arg1002His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.135784804G>CCA375518120KCNT1c.3071G>C (p.Arg1024Pro)
c.2912G>C (p.Arg971Pro)
c.2819G>C (p.Arg940Pro)
c.2828G>C (p.Arg943Pro)
c.2972G>C (p.Arg991Pro)
c.*2681G>C (n.*2681G>C)
c.2954G>C (p.Arg985Pro)
c.3014G>C (p.Arg1005Pro)
c.3008G>C (p.Arg1003Pro)
n.2890G>C
c.2936G>C (p.Arg979Pro)
c.2906G>C (p.Arg969Pro)
c.937G>C (n.937G>C)
c.3206G>C (p.Arg1069Pro)
c.3215G>C (p.Arg1072Pro)
c.2561G>C (p.Arg854Pro)
c.3005G>C (p.Arg1002Pro)
9g.135784804G=CA1883884328KCNT1c.3071G= (p.Arg1024=)
c.2912G= (p.Arg971=)
c.2819G= (p.Arg940=)
c.2828G= (p.Arg943=)
c.2972G= (p.Arg991=)
c.*2681G= (n.*2681G=)
c.2954G= (p.Arg985=)
c.3014G= (p.Arg1005=)
c.3008G= (p.Arg1003=)
n.2890G=
c.2936G= (p.Arg979=)
c.2906G= (p.Arg969=)
c.937G= (n.937G=)
c.3206G= (p.Arg1069=)
c.3215G= (p.Arg1072=)
c.2561G= (p.Arg854=)
c.3005G= (p.Arg1002=)
9g.135784804G>TCA375518121KCNT1c.3071G>T (p.Arg1024Leu)
c.2912G>T (p.Arg971Leu)
c.2819G>T (p.Arg940Leu)
c.2828G>T (p.Arg943Leu)
c.2972G>T (p.Arg991Leu)
c.*2681G>T (n.*2681G>T)
c.2954G>T (p.Arg985Leu)
c.3014G>T (p.Arg1005Leu)
c.3008G>T (p.Arg1003Leu)
n.2890G>T
c.2936G>T (p.Arg979Leu)
c.2906G>T (p.Arg969Leu)
c.937G>T (n.937G>T)
c.3206G>T (p.Arg1069Leu)
c.3215G>T (p.Arg1072Leu)
c.2561G>T (p.Arg854Leu)
c.3005G>T (p.Arg1002Leu)
 gnomAD v4
9g.135784805C>ACA467820959KCNT1c.3072C>A (p.Arg1024=)
c.2913C>A (p.Arg971=)
c.2820C>A (p.Arg940=)
c.2829C>A (p.Arg943=)
c.2973C>A (p.Arg991=)
c.*2682C>A (n.*2682C>A)
c.2955C>A (p.Arg985=)
c.3015C>A (p.Arg1005=)
c.3009C>A (p.Arg1003=)
n.2891C>A
c.2937C>A (p.Arg979=)
c.2907C>A (p.Arg969=)
c.938C>A (n.938C>A)
c.3207C>A (p.Arg1069=)
c.3216C>A (p.Arg1072=)
c.2562C>A (p.Arg854=)
c.3006C>A (p.Arg1002=)
9g.135784805C=CA1883884332KCNT1c.3072C= (p.Arg1024=)
c.2913C= (p.Arg971=)
c.2820C= (p.Arg940=)
c.2829C= (p.Arg943=)
c.2973C= (p.Arg991=)
c.*2682C= (n.*2682C=)
c.2955C= (p.Arg985=)
c.3015C= (p.Arg1005=)
c.3009C= (p.Arg1003=)
n.2891C=
c.2937C= (p.Arg979=)
c.2907C= (p.Arg969=)
c.938C= (n.938C=)
c.3207C= (p.Arg1069=)
c.3216C= (p.Arg1072=)
c.2562C= (p.Arg854=)
c.3006C= (p.Arg1002=)
9g.135784805C>GCA5327609KCNT1c.3072C>G (p.Arg1024=)
c.2913C>G (p.Arg971=)
c.2820C>G (p.Arg940=)
c.2829C>G (p.Arg943=)
c.2973C>G (p.Arg991=)
c.*2682C>G (n.*2682C>G)
c.2955C>G (p.Arg985=)
c.3015C>G (p.Arg1005=)
c.3009C>G (p.Arg1003=)
n.2891C>G
c.2937C>G (p.Arg979=)
c.2907C>G (p.Arg969=)
c.938C>G (n.938C>G)
c.3207C>G (p.Arg1069=)
c.3216C>G (p.Arg1072=)
c.2562C>G (p.Arg854=)
c.3006C>G (p.Arg1002=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135784805C>TCA5327608KCNT1c.3072C>T (p.Arg1024=)
c.2913C>T (p.Arg971=)
c.2820C>T (p.Arg940=)
c.2829C>T (p.Arg943=)
c.2973C>T (p.Arg991=)
c.*2682C>T (n.*2682C>T)
c.2955C>T (p.Arg985=)
c.3015C>T (p.Arg1005=)
c.3009C>T (p.Arg1003=)
n.2891C>T
c.2937C>T (p.Arg979=)
c.2907C>T (p.Arg969=)
c.938C>T (n.938C>T)
c.3207C>T (p.Arg1069=)
c.3216C>T (p.Arg1072=)
c.2562C>T (p.Arg854=)
c.3006C>T (p.Arg1002=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135784806C>ACA375518122KCNT1c.3073C>A (p.Leu1025Ile)
c.2914C>A (p.Leu972Ile)
c.2821C>A (p.Leu941Ile)
c.2830C>A (p.Leu944Ile)
c.2974C>A (p.Leu992Ile)
c.*2683C>A (n.*2683C>A)
c.2956C>A (p.Leu986Ile)
c.3016C>A (p.Leu1006Ile)
c.3010C>A (p.Leu1004Ile)
n.2892C>A
c.2938C>A (p.Leu980Ile)
c.2908C>A (p.Leu970Ile)
c.939C>A (n.939C>A)
c.3208C>A (p.Leu1070Ile)
c.3217C>A (p.Leu1073Ile)
c.2563C>A (p.Leu855Ile)
c.3007C>A (p.Leu1003Ile)
9g.135784806C>GCA375518123KCNT1c.3073C>G (p.Leu1025Val)
c.2914C>G (p.Leu972Val)
c.2821C>G (p.Leu941Val)
c.2830C>G (p.Leu944Val)
c.2974C>G (p.Leu992Val)
c.*2683C>G (n.*2683C>G)
c.2956C>G (p.Leu986Val)
c.3016C>G (p.Leu1006Val)
c.3010C>G (p.Leu1004Val)
n.2892C>G
c.2938C>G (p.Leu980Val)
c.2908C>G (p.Leu970Val)
c.939C>G (n.939C>G)
c.3208C>G (p.Leu1070Val)
c.3217C>G (p.Leu1073Val)
c.2563C>G (p.Leu855Val)
c.3007C>G (p.Leu1003Val)
9g.135784806C>TCA375518124KCNT1c.3073C>T (p.Leu1025Phe)
c.2914C>T (p.Leu972Phe)
c.2821C>T (p.Leu941Phe)
c.2830C>T (p.Leu944Phe)
c.2974C>T (p.Leu992Phe)
c.*2683C>T (n.*2683C>T)
c.2956C>T (p.Leu986Phe)
c.3016C>T (p.Leu1006Phe)
c.3010C>T (p.Leu1004Phe)
n.2892C>T
c.2938C>T (p.Leu980Phe)
c.2908C>T (p.Leu970Phe)
c.939C>T (n.939C>T)
c.3208C>T (p.Leu1070Phe)
c.3217C>T (p.Leu1073Phe)
c.2563C>T (p.Leu855Phe)
c.3007C>T (p.Leu1003Phe)
9g.135784807T>ACA375518127KCNT1c.3074T>A (p.Leu1025His)
c.2915T>A (p.Leu972His)
c.2822T>A (p.Leu941His)
c.2831T>A (p.Leu944His)
c.2975T>A (p.Leu992His)
c.*2684T>A (n.*2684T>A)
c.2957T>A (p.Leu986His)
c.3017T>A (p.Leu1006His)
c.3011T>A (p.Leu1004His)
n.2893T>A
c.2939T>A (p.Leu980His)
c.2909T>A (p.Leu970His)
c.940T>A (n.940T>A)
c.3209T>A (p.Leu1070His)
c.3218T>A (p.Leu1073His)
c.2564T>A (p.Leu855His)
c.3008T>A (p.Leu1003His)
 COSMIC
9g.135784807T>CCA375518126KCNT1c.3074T>C (p.Leu1025Pro)
c.2915T>C (p.Leu972Pro)
c.2822T>C (p.Leu941Pro)
c.2831T>C (p.Leu944Pro)
c.2975T>C (p.Leu992Pro)
c.*2684T>C (n.*2684T>C)
c.2957T>C (p.Leu986Pro)
c.3017T>C (p.Leu1006Pro)
c.3011T>C (p.Leu1004Pro)
n.2893T>C
c.2939T>C (p.Leu980Pro)
c.2909T>C (p.Leu970Pro)
c.940T>C (n.940T>C)
c.3209T>C (p.Leu1070Pro)
c.3218T>C (p.Leu1073Pro)
c.2564T>C (p.Leu855Pro)
c.3008T>C (p.Leu1003Pro)
9g.135784807T>GCA375518125KCNT1c.3074T>G (p.Leu1025Arg)
c.2915T>G (p.Leu972Arg)
c.2822T>G (p.Leu941Arg)
c.2831T>G (p.Leu944Arg)
c.2975T>G (p.Leu992Arg)
c.*2684T>G (n.*2684T>G)
c.2957T>G (p.Leu986Arg)
c.3017T>G (p.Leu1006Arg)
c.3011T>G (p.Leu1004Arg)
n.2893T>G
c.2939T>G (p.Leu980Arg)
c.2909T>G (p.Leu970Arg)
c.940T>G (n.940T>G)
c.3209T>G (p.Leu1070Arg)
c.3218T>G (p.Leu1073Arg)
c.2564T>G (p.Leu855Arg)
c.3008T>G (p.Leu1003Arg)
9g.135784808C>ACA467820964KCNT1c.3075C>A (p.Leu1025=)
c.2916C>A (p.Leu972=)
c.2823C>A (p.Leu941=)
c.2832C>A (p.Leu944=)
c.2976C>A (p.Leu992=)
c.*2685C>A (n.*2685C>A)
c.2958C>A (p.Leu986=)
c.3018C>A (p.Leu1006=)
c.3012C>A (p.Leu1004=)
n.2894C>A
c.2940C>A (p.Leu980=)
c.2910C>A (p.Leu970=)
c.941C>A (n.941C>A)
c.3210C>A (p.Leu1070=)
c.3219C>A (p.Leu1073=)
c.2565C>A (p.Leu855=)
c.3009C>A (p.Leu1003=)
9g.135784808C>GCA467820965KCNT1c.3075C>G (p.Leu1025=)
c.2916C>G (p.Leu972=)
c.2823C>G (p.Leu941=)
c.2832C>G (p.Leu944=)
c.2976C>G (p.Leu992=)
c.*2685C>G (n.*2685C>G)
c.2958C>G (p.Leu986=)
c.3018C>G (p.Leu1006=)
c.3012C>G (p.Leu1004=)
n.2894C>G
c.2940C>G (p.Leu980=)
c.2910C>G (p.Leu970=)
c.941C>G (n.941C>G)
c.3210C>G (p.Leu1070=)
c.3219C>G (p.Leu1073=)
c.2565C>G (p.Leu855=)
c.3009C>G (p.Leu1003=)
 COSMIC COSMIC
9g.135784808C>TCA467820966KCNT1c.3075C>T (p.Leu1025=)
c.2916C>T (p.Leu972=)
c.2823C>T (p.Leu941=)
c.2832C>T (p.Leu944=)
c.2976C>T (p.Leu992=)
c.*2685C>T (n.*2685C>T)
c.2958C>T (p.Leu986=)
c.3018C>T (p.Leu1006=)
c.3012C>T (p.Leu1004=)
n.2894C>T
c.2940C>T (p.Leu980=)
c.2910C>T (p.Leu970=)
c.941C>T (n.941C>T)
c.3210C>T (p.Leu1070=)
c.3219C>T (p.Leu1073=)
c.2565C>T (p.Leu855=)
c.3009C>T (p.Leu1003=)
 gnomAD v4
9g.135784809T>ACA375518128KCNT1c.3076T>A (p.Phe1026Ile)
c.2917T>A (p.Phe973Ile)
c.2824T>A (p.Phe942Ile)
c.2833T>A (p.Phe945Ile)
c.2977T>A (p.Phe993Ile)
c.*2686T>A (n.*2686T>A)
c.2959T>A (p.Phe987Ile)
c.3019T>A (p.Phe1007Ile)
c.3013T>A (p.Phe1005Ile)
n.2895T>A
c.2941T>A (p.Phe981Ile)
c.2911T>A (p.Phe971Ile)
c.942T>A (n.942T>A)
c.3211T>A (p.Phe1071Ile)
c.3220T>A (p.Phe1074Ile)
c.2566T>A (p.Phe856Ile)
c.3010T>A (p.Phe1004Ile)
9g.135784809T>CCA375518129KCNT1c.3076T>C (p.Phe1026Leu)
c.2917T>C (p.Phe973Leu)
c.2824T>C (p.Phe942Leu)
c.2833T>C (p.Phe945Leu)
c.2977T>C (p.Phe993Leu)
c.*2686T>C (n.*2686T>C)
c.2959T>C (p.Phe987Leu)
c.3019T>C (p.Phe1007Leu)
c.3013T>C (p.Phe1005Leu)
n.2895T>C
c.2941T>C (p.Phe981Leu)
c.2911T>C (p.Phe971Leu)
c.942T>C (n.942T>C)
c.3211T>C (p.Phe1071Leu)
c.3220T>C (p.Phe1074Leu)
c.2566T>C (p.Phe856Leu)
c.3010T>C (p.Phe1004Leu)
9g.135784809T>GCA375518130KCNT1c.3076T>G (p.Phe1026Val)
c.2917T>G (p.Phe973Val)
c.2824T>G (p.Phe942Val)
c.2833T>G (p.Phe945Val)
c.2977T>G (p.Phe993Val)
c.*2686T>G (n.*2686T>G)
c.2959T>G (p.Phe987Val)
c.3019T>G (p.Phe1007Val)
c.3013T>G (p.Phe1005Val)
n.2895T>G
c.2941T>G (p.Phe981Val)
c.2911T>G (p.Phe971Val)
c.942T>G (n.942T>G)
c.3211T>G (p.Phe1071Val)
c.3220T>G (p.Phe1074Val)
c.2566T>G (p.Phe856Val)
c.3010T>G (p.Phe1004Val)
9g.135784810T>ACA375518131KCNT1c.3077T>A (p.Phe1026Tyr)
c.2918T>A (p.Phe973Tyr)
c.2825T>A (p.Phe942Tyr)
c.2834T>A (p.Phe945Tyr)
c.2978T>A (p.Phe993Tyr)
c.*2687T>A (n.*2687T>A)
c.2960T>A (p.Phe987Tyr)
c.3020T>A (p.Phe1007Tyr)
c.3014T>A (p.Phe1005Tyr)
n.2896T>A
c.2942T>A (p.Phe981Tyr)
c.2912T>A (p.Phe971Tyr)
c.943T>A (n.943T>A)
c.3212T>A (p.Phe1071Tyr)
c.3221T>A (p.Phe1074Tyr)
c.2567T>A (p.Phe856Tyr)
c.3011T>A (p.Phe1004Tyr)
9g.135784810T>CCA375518132KCNT1c.3077T>C (p.Phe1026Ser)
c.2918T>C (p.Phe973Ser)
c.2825T>C (p.Phe942Ser)
c.2834T>C (p.Phe945Ser)
c.2978T>C (p.Phe993Ser)
c.*2687T>C (n.*2687T>C)
c.2960T>C (p.Phe987Ser)
c.3020T>C (p.Phe1007Ser)
c.3014T>C (p.Phe1005Ser)
n.2896T>C
c.2942T>C (p.Phe981Ser)
c.2912T>C (p.Phe971Ser)
c.943T>C (n.943T>C)
c.3212T>C (p.Phe1071Ser)
c.3221T>C (p.Phe1074Ser)
c.2567T>C (p.Phe856Ser)
c.3011T>C (p.Phe1004Ser)
9g.135784810T>GCA375518133KCNT1c.3077T>G (p.Phe1026Cys)
c.2918T>G (p.Phe973Cys)
c.2825T>G (p.Phe942Cys)
c.2834T>G (p.Phe945Cys)
c.2978T>G (p.Phe993Cys)
c.*2687T>G (n.*2687T>G)
c.2960T>G (p.Phe987Cys)
c.3020T>G (p.Phe1007Cys)
c.3014T>G (p.Phe1005Cys)
n.2896T>G
c.2942T>G (p.Phe981Cys)
c.2912T>G (p.Phe971Cys)
c.943T>G (n.943T>G)
c.3212T>G (p.Phe1071Cys)
c.3221T>G (p.Phe1074Cys)
c.2567T>G (p.Phe856Cys)
c.3011T>G (p.Phe1004Cys)
9g.135784811C>ACA375518134KCNT1c.3078C>A (p.Phe1026Leu)
c.2919C>A (p.Phe973Leu)
c.2826C>A (p.Phe942Leu)
c.2835C>A (p.Phe945Leu)
c.2979C>A (p.Phe993Leu)
c.*2688C>A (n.*2688C>A)
c.2961C>A (p.Phe987Leu)
c.3021C>A (p.Phe1007Leu)
c.3015C>A (p.Phe1005Leu)
n.2897C>A
c.2943C>A (p.Phe981Leu)
c.2913C>A (p.Phe971Leu)
c.944C>A (n.944C>A)
c.3213C>A (p.Phe1071Leu)
c.3222C>A (p.Phe1074Leu)
c.2568C>A (p.Phe856Leu)
c.3012C>A (p.Phe1004Leu)
9g.135784811C=CA1883884343KCNT1c.3078C= (p.Phe1026=)
c.2919C= (p.Phe973=)
c.2826C= (p.Phe942=)
c.2835C= (p.Phe945=)
c.2979C= (p.Phe993=)
c.*2688C= (n.*2688C=)
c.2961C= (p.Phe987=)
c.3021C= (p.Phe1007=)
c.3015C= (p.Phe1005=)
n.2897C=
c.2943C= (p.Phe981=)
c.2913C= (p.Phe971=)
c.944C= (n.944C=)
c.3213C= (p.Phe1071=)
c.3222C= (p.Phe1074=)
c.2568C= (p.Phe856=)
c.3012C= (p.Phe1004=)
9g.135784811C>GCA375518135KCNT1c.3078C>G (p.Phe1026Leu)
c.2919C>G (p.Phe973Leu)
c.2826C>G (p.Phe942Leu)
c.2835C>G (p.Phe945Leu)
c.2979C>G (p.Phe993Leu)
c.*2688C>G (n.*2688C>G)
c.2961C>G (p.Phe987Leu)
c.3021C>G (p.Phe1007Leu)
c.3015C>G (p.Phe1005Leu)
n.2897C>G
c.2943C>G (p.Phe981Leu)
c.2913C>G (p.Phe971Leu)
c.944C>G (n.944C>G)
c.3213C>G (p.Phe1071Leu)
c.3222C>G (p.Phe1074Leu)
c.2568C>G (p.Phe856Leu)
c.3012C>G (p.Phe1004Leu)
 ClinVar dbSNP gnomAD v4
9g.135784811C>TCA467820971KCNT1c.3078C>T (p.Phe1026=)
c.2919C>T (p.Phe973=)
c.2826C>T (p.Phe942=)
c.2835C>T (p.Phe945=)
c.2979C>T (p.Phe993=)
c.*2688C>T (n.*2688C>T)
c.2961C>T (p.Phe987=)
c.3021C>T (p.Phe1007=)
c.3015C>T (p.Phe1005=)
n.2897C>T
c.2943C>T (p.Phe981=)
c.2913C>T (p.Phe971=)
c.944C>T (n.944C>T)
c.3213C>T (p.Phe1071=)
c.3222C>T (p.Phe1074=)
c.2568C>T (p.Phe856=)
c.3012C>T (p.Phe1004=)
 dbSNP
9g.135784812C>ACA375518136KCNT1c.3079C>A (p.Gln1027Lys)
c.2920C>A (p.Gln974Lys)
c.2827C>A (p.Gln943Lys)
c.2836C>A (p.Gln946Lys)
c.2980C>A (p.Gln994Lys)
c.*2689C>A (n.*2689C>A)
c.2962C>A (p.Gln988Lys)
c.3022C>A (p.Gln1008Lys)
c.3016C>A (p.Gln1006Lys)
n.2898C>A
c.2944C>A (p.Gln982Lys)
c.2914C>A (p.Gln972Lys)
c.945C>A (n.945C>A)
c.3214C>A (p.Gln1072Lys)
c.3223C>A (p.Gln1075Lys)
c.2569C>A (p.Gln857Lys)
c.3013C>A (p.Gln1005Lys)
9g.135784812C>GCA375518137KCNT1c.3079C>G (p.Gln1027Glu)
c.2920C>G (p.Gln974Glu)
c.2827C>G (p.Gln943Glu)
c.2836C>G (p.Gln946Glu)
c.2980C>G (p.Gln994Glu)
c.*2689C>G (n.*2689C>G)
c.2962C>G (p.Gln988Glu)
c.3022C>G (p.Gln1008Glu)
c.3016C>G (p.Gln1006Glu)
n.2898C>G
c.2944C>G (p.Gln982Glu)
c.2914C>G (p.Gln972Glu)
c.945C>G (n.945C>G)
c.3214C>G (p.Gln1072Glu)
c.3223C>G (p.Gln1075Glu)
c.2569C>G (p.Gln857Glu)
c.3013C>G (p.Gln1005Glu)
9g.135784812C>TCA375518138KCNT1c.3079C>T (p.Gln1027Ter)
c.2920C>T (p.Gln974Ter)
c.2827C>T (p.Gln943Ter)
c.2836C>T (p.Gln946Ter)
c.2980C>T (p.Gln994Ter)
c.*2689C>T (n.*2689C>T)
c.2962C>T (p.Gln988Ter)
c.3022C>T (p.Gln1008Ter)
c.3016C>T (p.Gln1006Ter)
n.2898C>T
c.2944C>T (p.Gln982Ter)
c.2914C>T (p.Gln972Ter)
c.945C>T (n.945C>T)
c.3214C>T (p.Gln1072Ter)
c.3223C>T (p.Gln1075Ter)
c.2569C>T (p.Gln857Ter)
c.3013C>T (p.Gln1005Ter)
 gnomAD v4
9g.135784813A>CCA375518141KCNT1c.3080A>C (p.Gln1027Pro)
c.2921A>C (p.Gln974Pro)
c.2828A>C (p.Gln943Pro)
c.2837A>C (p.Gln946Pro)
c.2981A>C (p.Gln994Pro)
c.*2690A>C (n.*2690A>C)
c.2963A>C (p.Gln988Pro)
c.3023A>C (p.Gln1008Pro)
c.3017A>C (p.Gln1006Pro)
n.2899A>C
c.2945A>C (p.Gln982Pro)
c.2915A>C (p.Gln972Pro)
c.946A>C (n.946A>C)
c.3215A>C (p.Gln1072Pro)
c.3224A>C (p.Gln1075Pro)
c.2570A>C (p.Gln857Pro)
c.3014A>C (p.Gln1005Pro)
9g.135784813A>GCA375518140KCNT1c.3080A>G (p.Gln1027Arg)
c.2921A>G (p.Gln974Arg)
c.2828A>G (p.Gln943Arg)
c.2837A>G (p.Gln946Arg)
c.2981A>G (p.Gln994Arg)
c.*2690A>G (n.*2690A>G)
c.2963A>G (p.Gln988Arg)
c.3023A>G (p.Gln1008Arg)
c.3017A>G (p.Gln1006Arg)
n.2899A>G
c.2945A>G (p.Gln982Arg)
c.2915A>G (p.Gln972Arg)
c.946A>G (n.946A>G)
c.3215A>G (p.Gln1072Arg)
c.3224A>G (p.Gln1075Arg)
c.2570A>G (p.Gln857Arg)
c.3014A>G (p.Gln1005Arg)
 gnomAD v4
9g.135784813A>TCA375518139KCNT1c.3080A>T (p.Gln1027Leu)
c.2921A>T (p.Gln974Leu)
c.2828A>T (p.Gln943Leu)
c.2837A>T (p.Gln946Leu)
c.2981A>T (p.Gln994Leu)
c.*2690A>T (n.*2690A>T)
c.2963A>T (p.Gln988Leu)
c.3023A>T (p.Gln1008Leu)
c.3017A>T (p.Gln1006Leu)
n.2899A>T
c.2945A>T (p.Gln982Leu)
c.2915A>T (p.Gln972Leu)
c.946A>T (n.946A>T)
c.3215A>T (p.Gln1072Leu)
c.3224A>T (p.Gln1075Leu)
c.2570A>T (p.Gln857Leu)
c.3014A>T (p.Gln1005Leu)
9g.135784814G>ACA467820977KCNT1c.3081G>A (p.Gln1027=)
c.2922G>A (p.Gln974=)
c.2829G>A (p.Gln943=)
c.2838G>A (p.Gln946=)
c.2982G>A (p.Gln994=)
c.*2691G>A (n.*2691G>A)
c.2964G>A (p.Gln988=)
c.3024G>A (p.Gln1008=)
c.3018G>A (p.Gln1006=)
n.2900G>A
c.2946G>A (p.Gln982=)
c.2916G>A (p.Gln972=)
c.947G>A (n.947G>A)
c.3216G>A (p.Gln1072=)
c.3225G>A (p.Gln1075=)
c.2571G>A (p.Gln857=)
c.3015G>A (p.Gln1005=)
 gnomAD v4
9g.135784814G>CCA375518142KCNT1c.3081G>C (p.Gln1027His)
c.2922G>C (p.Gln974His)
c.2829G>C (p.Gln943His)
c.2838G>C (p.Gln946His)
c.2982G>C (p.Gln994His)
c.*2691G>C (n.*2691G>C)
c.2964G>C (p.Gln988His)
c.3024G>C (p.Gln1008His)
c.3018G>C (p.Gln1006His)
n.2900G>C
c.2946G>C (p.Gln982His)
c.2916G>C (p.Gln972His)
c.947G>C (n.947G>C)
c.3216G>C (p.Gln1072His)
c.3225G>C (p.Gln1075His)
c.2571G>C (p.Gln857His)
c.3015G>C (p.Gln1005His)
9g.135784814G>TCA375518143KCNT1c.3081G>T (p.Gln1027His)
c.2922G>T (p.Gln974His)
c.2829G>T (p.Gln943His)
c.2838G>T (p.Gln946His)
c.2982G>T (p.Gln994His)
c.*2691G>T (n.*2691G>T)
c.2964G>T (p.Gln988His)
c.3024G>T (p.Gln1008His)
c.3018G>T (p.Gln1006His)
n.2900G>T
c.2946G>T (p.Gln982His)
c.2916G>T (p.Gln972His)
c.947G>T (n.947G>T)
c.3216G>T (p.Gln1072His)
c.3225G>T (p.Gln1075His)
c.2571G>T (p.Gln857His)
c.3015G>T (p.Gln1005His)
9g.135784815A>CCA375518144KCNT1c.3082A>C (p.Lys1028Gln)
c.2923A>C (p.Lys975Gln)
c.2830A>C (p.Lys944Gln)
c.2839A>C (p.Lys947Gln)
c.2983A>C (p.Lys995Gln)
c.*2692A>C (n.*2692A>C)
c.2965A>C (p.Lys989Gln)
c.3025A>C (p.Lys1009Gln)
c.3019A>C (p.Lys1007Gln)
n.2901A>C
c.2947A>C (p.Lys983Gln)
c.2917A>C (p.Lys973Gln)
c.948A>C (n.948A>C)
c.3217A>C (p.Lys1073Gln)
c.3226A>C (p.Lys1076Gln)
c.2572A>C (p.Lys858Gln)
c.3016A>C (p.Lys1006Gln)
 gnomAD v4
9g.135784815A>GCA375518145KCNT1c.3082A>G (p.Lys1028Glu)
c.2923A>G (p.Lys975Glu)
c.2830A>G (p.Lys944Glu)
c.2839A>G (p.Lys947Glu)
c.2983A>G (p.Lys995Glu)
c.*2692A>G (n.*2692A>G)
c.2965A>G (p.Lys989Glu)
c.3025A>G (p.Lys1009Glu)
c.3019A>G (p.Lys1007Glu)
n.2901A>G
c.2947A>G (p.Lys983Glu)
c.2917A>G (p.Lys973Glu)
c.948A>G (n.948A>G)
c.3217A>G (p.Lys1073Glu)
c.3226A>G (p.Lys1076Glu)
c.2572A>G (p.Lys858Glu)
c.3016A>G (p.Lys1006Glu)
9g.135784815A>TCA375518146KCNT1c.3082A>T (p.Lys1028Ter)
c.2923A>T (p.Lys975Ter)
c.2830A>T (p.Lys944Ter)
c.2839A>T (p.Lys947Ter)
c.2983A>T (p.Lys995Ter)
c.*2692A>T (n.*2692A>T)
c.2965A>T (p.Lys989Ter)
c.3025A>T (p.Lys1009Ter)
c.3019A>T (p.Lys1007Ter)
n.2901A>T
c.2947A>T (p.Lys983Ter)
c.2917A>T (p.Lys973Ter)
c.948A>T (n.948A>T)
c.3217A>T (p.Lys1073Ter)
c.3226A>T (p.Lys1076Ter)
c.2572A>T (p.Lys858Ter)
c.3016A>T (p.Lys1006Ter)
9g.135784816A>CCA375518147KCNT1c.3083A>C (p.Lys1028Thr)
c.2924A>C (p.Lys975Thr)
c.2831A>C (p.Lys944Thr)
c.2840A>C (p.Lys947Thr)
c.2984A>C (p.Lys995Thr)
c.*2693A>C (n.*2693A>C)
c.2966A>C (p.Lys989Thr)
c.3026A>C (p.Lys1009Thr)
c.3020A>C (p.Lys1007Thr)
n.2902A>C
c.2948A>C (p.Lys983Thr)
c.2918A>C (p.Lys973Thr)
c.949A>C (n.949A>C)
c.3218A>C (p.Lys1073Thr)
c.3227A>C (p.Lys1076Thr)
c.2573A>C (p.Lys858Thr)
c.3017A>C (p.Lys1006Thr)
9g.135784816A>GCA375518148KCNT1c.3083A>G (p.Lys1028Arg)
c.2924A>G (p.Lys975Arg)
c.2831A>G (p.Lys944Arg)
c.2840A>G (p.Lys947Arg)
c.2984A>G (p.Lys995Arg)
c.*2693A>G (n.*2693A>G)
c.2966A>G (p.Lys989Arg)
c.3026A>G (p.Lys1009Arg)
c.3020A>G (p.Lys1007Arg)
n.2902A>G
c.2948A>G (p.Lys983Arg)
c.2918A>G (p.Lys973Arg)
c.949A>G (n.949A>G)
c.3218A>G (p.Lys1073Arg)
c.3227A>G (p.Lys1076Arg)
c.2573A>G (p.Lys858Arg)
c.3017A>G (p.Lys1006Arg)
9g.135784816A>TCA375518149KCNT1c.3083A>T (p.Lys1028Met)
c.2924A>T (p.Lys975Met)
c.2831A>T (p.Lys944Met)
c.2840A>T (p.Lys947Met)
c.2984A>T (p.Lys995Met)
c.*2693A>T (n.*2693A>T)
c.2966A>T (p.Lys989Met)
c.3026A>T (p.Lys1009Met)
c.3020A>T (p.Lys1007Met)
n.2902A>T
c.2948A>T (p.Lys983Met)
c.2918A>T (p.Lys973Met)
c.949A>T (n.949A>T)
c.3218A>T (p.Lys1073Met)
c.3227A>T (p.Lys1076Met)
c.2573A>T (p.Lys858Met)
c.3017A>T (p.Lys1006Met)
9g.135784817G>ACA467820978KCNT1c.3084G>A (p.Lys1028=)
c.2925G>A (p.Lys975=)
c.2832G>A (p.Lys944=)
c.2841G>A (p.Lys947=)
c.2985G>A (p.Lys995=)
c.*2694G>A (n.*2694G>A)
c.2967G>A (p.Lys989=)
c.3027G>A (p.Lys1009=)
c.3021G>A (p.Lys1007=)
n.2903G>A
c.2949G>A (p.Lys983=)
c.2919G>A (p.Lys973=)
c.950G>A (n.950G>A)
c.3219G>A (p.Lys1073=)
c.3228G>A (p.Lys1076=)
c.2574G>A (p.Lys858=)
c.3018G>A (p.Lys1006=)
9g.135784817G>CCA375518150KCNT1c.3084G>C (p.Lys1028Asn)
c.2925G>C (p.Lys975Asn)
c.2832G>C (p.Lys944Asn)
c.2841G>C (p.Lys947Asn)
c.2985G>C (p.Lys995Asn)
c.*2694G>C (n.*2694G>C)
c.2967G>C (p.Lys989Asn)
c.3027G>C (p.Lys1009Asn)
c.3021G>C (p.Lys1007Asn)
n.2903G>C
c.2949G>C (p.Lys983Asn)
c.2919G>C (p.Lys973Asn)
c.950G>C (n.950G>C)
c.3219G>C (p.Lys1073Asn)
c.3228G>C (p.Lys1076Asn)
c.2574G>C (p.Lys858Asn)
c.3018G>C (p.Lys1006Asn)
9g.135784817G>TCA375518151KCNT1c.3084G>T (p.Lys1028Asn)
c.2925G>T (p.Lys975Asn)
c.2832G>T (p.Lys944Asn)
c.2841G>T (p.Lys947Asn)
c.2985G>T (p.Lys995Asn)
c.*2694G>T (n.*2694G>T)
c.2967G>T (p.Lys989Asn)
c.3027G>T (p.Lys1009Asn)
c.3021G>T (p.Lys1007Asn)
n.2903G>T
c.2949G>T (p.Lys983Asn)
c.2919G>T (p.Lys973Asn)
c.950G>T (n.950G>T)
c.3219G>T (p.Lys1073Asn)
c.3228G>T (p.Lys1076Asn)
c.2574G>T (p.Lys858Asn)
c.3018G>T (p.Lys1006Asn)
9g.135784818C>ACA375518152KCNT1c.3085C>A (p.Leu1029Ile)
c.2926C>A (p.Leu976Ile)
c.2833C>A (p.Leu945Ile)
c.2842C>A (p.Leu948Ile)
c.2986C>A (p.Leu996Ile)
c.*2695C>A (n.*2695C>A)
c.2968C>A (p.Leu990Ile)
c.3028C>A (p.Leu1010Ile)
c.3022C>A (p.Leu1008Ile)
n.2904C>A
c.2950C>A (p.Leu984Ile)
c.2920C>A (p.Leu974Ile)
c.951C>A (n.951C>A)
c.3220C>A (p.Leu1074Ile)
c.3229C>A (p.Leu1077Ile)
c.2575C>A (p.Leu859Ile)
c.3019C>A (p.Leu1007Ile)
9g.135784818C=CA1883884352KCNT1c.3085C= (p.Leu1029=)
c.2926C= (p.Leu976=)
c.2833C= (p.Leu945=)
c.2842C= (p.Leu948=)
c.2986C= (p.Leu996=)
c.*2695C= (n.*2695C=)
c.2968C= (p.Leu990=)
c.3028C= (p.Leu1010=)
c.3022C= (p.Leu1008=)
n.2904C=
c.2950C= (p.Leu984=)
c.2920C= (p.Leu974=)
c.951C= (n.951C=)
c.3220C= (p.Leu1074=)
c.3229C= (p.Leu1077=)
c.2575C= (p.Leu859=)
c.3019C= (p.Leu1007=)
9g.135784818C>GCA375518153KCNT1c.3085C>G (p.Leu1029Val)
c.2926C>G (p.Leu976Val)
c.2833C>G (p.Leu945Val)
c.2842C>G (p.Leu948Val)
c.2986C>G (p.Leu996Val)
c.*2695C>G (n.*2695C>G)
c.2968C>G (p.Leu990Val)
c.3028C>G (p.Leu1010Val)
c.3022C>G (p.Leu1008Val)
n.2904C>G
c.2950C>G (p.Leu984Val)
c.2920C>G (p.Leu974Val)
c.951C>G (n.951C>G)
c.3220C>G (p.Leu1074Val)
c.3229C>G (p.Leu1077Val)
c.2575C>G (p.Leu859Val)
c.3019C>G (p.Leu1007Val)
9g.135784818C>TCA5327610KCNT1c.3085C>T (p.Leu1029Phe)
c.2926C>T (p.Leu976Phe)
c.2833C>T (p.Leu945Phe)
c.2842C>T (p.Leu948Phe)
c.2986C>T (p.Leu996Phe)
c.*2695C>T (n.*2695C>T)
c.2968C>T (p.Leu990Phe)
c.3028C>T (p.Leu1010Phe)
c.3022C>T (p.Leu1008Phe)
n.2904C>T
c.2950C>T (p.Leu984Phe)
c.2920C>T (p.Leu974Phe)
c.951C>T (n.951C>T)
c.3220C>T (p.Leu1074Phe)
c.3229C>T (p.Leu1077Phe)
c.2575C>T (p.Leu859Phe)
c.3019C>T (p.Leu1007Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135784819T>ACA375518156KCNT1c.3086T>A (p.Leu1029His)
c.2927T>A (p.Leu976His)
c.2834T>A (p.Leu945His)
c.2843T>A (p.Leu948His)
c.2987T>A (p.Leu996His)
c.*2696T>A (n.*2696T>A)
c.2969T>A (p.Leu990His)
c.3029T>A (p.Leu1010His)
c.3023T>A (p.Leu1008His)
n.2905T>A
c.2951T>A (p.Leu984His)
c.2921T>A (p.Leu974His)
c.952T>A (n.952T>A)
c.3221T>A (p.Leu1074His)
c.3230T>A (p.Leu1077His)
c.2576T>A (p.Leu859His)
c.3020T>A (p.Leu1007His)
9g.135784819T>CCA375518154KCNT1c.3086T>C (p.Leu1029Pro)
c.2927T>C (p.Leu976Pro)
c.2834T>C (p.Leu945Pro)
c.2843T>C (p.Leu948Pro)
c.2987T>C (p.Leu996Pro)
c.*2696T>C (n.*2696T>C)
c.2969T>C (p.Leu990Pro)
c.3029T>C (p.Leu1010Pro)
c.3023T>C (p.Leu1008Pro)
n.2905T>C
c.2951T>C (p.Leu984Pro)
c.2921T>C (p.Leu974Pro)
c.952T>C (n.952T>C)
c.3221T>C (p.Leu1074Pro)
c.3230T>C (p.Leu1077Pro)
c.2576T>C (p.Leu859Pro)
c.3020T>C (p.Leu1007Pro)
9g.135784819T>GCA375518155KCNT1c.3086T>G (p.Leu1029Arg)
c.2927T>G (p.Leu976Arg)
c.2834T>G (p.Leu945Arg)
c.2843T>G (p.Leu948Arg)
c.2987T>G (p.Leu996Arg)
c.*2696T>G (n.*2696T>G)
c.2969T>G (p.Leu990Arg)
c.3029T>G (p.Leu1010Arg)
c.3023T>G (p.Leu1008Arg)
n.2905T>G
c.2951T>G (p.Leu984Arg)
c.2921T>G (p.Leu974Arg)
c.952T>G (n.952T>G)
c.3221T>G (p.Leu1074Arg)
c.3230T>G (p.Leu1077Arg)
c.2576T>G (p.Leu859Arg)
c.3020T>G (p.Leu1007Arg)
9g.135784820C>ACA467820983KCNT1c.3087C>A (p.Leu1029=)
c.2928C>A (p.Leu976=)
c.2835C>A (p.Leu945=)
c.2844C>A (p.Leu948=)
c.2988C>A (p.Leu996=)
c.*2697C>A (n.*2697C>A)
c.2970C>A (p.Leu990=)
c.3030C>A (p.Leu1010=)
c.3024C>A (p.Leu1008=)
n.2906C>A
c.2952C>A (p.Leu984=)
c.2922C>A (p.Leu974=)
c.953C>A (n.953C>A)
c.3222C>A (p.Leu1074=)
c.3231C>A (p.Leu1077=)
c.2577C>A (p.Leu859=)
c.3021C>A (p.Leu1007=)
9g.135784820C>GCA467820985KCNT1c.3087C>G (p.Leu1029=)
c.2928C>G (p.Leu976=)
c.2835C>G (p.Leu945=)
c.2844C>G (p.Leu948=)
c.2988C>G (p.Leu996=)
c.*2697C>G (n.*2697C>G)
c.2970C>G (p.Leu990=)
c.3030C>G (p.Leu1010=)
c.3024C>G (p.Leu1008=)
n.2906C>G
c.2952C>G (p.Leu984=)
c.2922C>G (p.Leu974=)
c.953C>G (n.953C>G)
c.3222C>G (p.Leu1074=)
c.3231C>G (p.Leu1077=)
c.2577C>G (p.Leu859=)
c.3021C>G (p.Leu1007=)
9g.135784820C>TCA467820986KCNT1c.3087C>T (p.Leu1029=)
c.2928C>T (p.Leu976=)
c.2835C>T (p.Leu945=)
c.2844C>T (p.Leu948=)
c.2988C>T (p.Leu996=)
c.*2697C>T (n.*2697C>T)
c.2970C>T (p.Leu990=)
c.3030C>T (p.Leu1010=)
c.3024C>T (p.Leu1008=)
n.2906C>T
c.2952C>T (p.Leu984=)
c.2922C>T (p.Leu974=)
c.953C>T (n.953C>T)
c.3222C>T (p.Leu1074=)
c.3231C>T (p.Leu1077=)
c.2577C>T (p.Leu859=)
c.3021C>T (p.Leu1007=)
9g.135784821T>ACA375518157KCNT1c.3088T>A (p.Cys1030Ser)
c.2929T>A (p.Cys977Ser)
c.2836T>A (p.Cys946Ser)
c.2845T>A (p.Cys949Ser)
c.2989T>A (p.Cys997Ser)
c.*2698T>A (n.*2698T>A)
c.2971T>A (p.Cys991Ser)
c.3031T>A (p.Cys1011Ser)
c.3025T>A (p.Cys1009Ser)
n.2907T>A
c.2953T>A (p.Cys985Ser)
c.2923T>A (p.Cys975Ser)
c.954T>A (n.954T>A)
c.3223T>A (p.Cys1075Ser)
c.3232T>A (p.Cys1078Ser)
c.2578T>A (p.Cys860Ser)
c.3022T>A (p.Cys1008Ser)
9g.135784821T>CCA375518158KCNT1c.3088T>C (p.Cys1030Arg)
c.2929T>C (p.Cys977Arg)
c.2836T>C (p.Cys946Arg)
c.2845T>C (p.Cys949Arg)
c.2989T>C (p.Cys997Arg)
c.*2698T>C (n.*2698T>C)
c.2971T>C (p.Cys991Arg)
c.3031T>C (p.Cys1011Arg)
c.3025T>C (p.Cys1009Arg)
n.2907T>C
c.2953T>C (p.Cys985Arg)
c.2923T>C (p.Cys975Arg)
c.954T>C (n.954T>C)
c.3223T>C (p.Cys1075Arg)
c.3232T>C (p.Cys1078Arg)
c.2578T>C (p.Cys860Arg)
c.3022T>C (p.Cys1008Arg)
9g.135784821T>GCA375518159KCNT1c.3088T>G (p.Cys1030Gly)
c.2929T>G (p.Cys977Gly)
c.2836T>G (p.Cys946Gly)
c.2845T>G (p.Cys949Gly)
c.2989T>G (p.Cys997Gly)
c.*2698T>G (n.*2698T>G)
c.2971T>G (p.Cys991Gly)
c.3031T>G (p.Cys1011Gly)
c.3025T>G (p.Cys1009Gly)
n.2907T>G
c.2953T>G (p.Cys985Gly)
c.2923T>G (p.Cys975Gly)
c.954T>G (n.954T>G)
c.3223T>G (p.Cys1075Gly)
c.3232T>G (p.Cys1078Gly)
c.2578T>G (p.Cys860Gly)
c.3022T>G (p.Cys1008Gly)
9g.135784822G>ACA375518160KCNT1c.3089G>A (p.Cys1030Tyr)
c.2930G>A (p.Cys977Tyr)
c.2837G>A (p.Cys946Tyr)
c.2846G>A (p.Cys949Tyr)
c.2990G>A (p.Cys997Tyr)
c.*2699G>A (n.*2699G>A)
c.2972G>A (p.Cys991Tyr)
c.3032G>A (p.Cys1011Tyr)
c.3026G>A (p.Cys1009Tyr)
n.2908G>A
c.2954G>A (p.Cys985Tyr)
c.2924G>A (p.Cys975Tyr)
c.955G>A (n.955G>A)
c.3224G>A (p.Cys1075Tyr)
c.3233G>A (p.Cys1078Tyr)
c.2579G>A (p.Cys860Tyr)
c.3023G>A (p.Cys1008Tyr)
9g.135784822G>CCA375518161KCNT1c.3089G>C (p.Cys1030Ser)
c.2930G>C (p.Cys977Ser)
c.2837G>C (p.Cys946Ser)
c.2846G>C (p.Cys949Ser)
c.2990G>C (p.Cys997Ser)
c.*2699G>C (n.*2699G>C)
c.2972G>C (p.Cys991Ser)
c.3032G>C (p.Cys1011Ser)
c.3026G>C (p.Cys1009Ser)
n.2908G>C
c.2954G>C (p.Cys985Ser)
c.2924G>C (p.Cys975Ser)
c.955G>C (n.955G>C)
c.3224G>C (p.Cys1075Ser)
c.3233G>C (p.Cys1078Ser)
c.2579G>C (p.Cys860Ser)
c.3023G>C (p.Cys1008Ser)
9g.135784822G>TCA375518162KCNT1c.3089G>T (p.Cys1030Phe)
c.2930G>T (p.Cys977Phe)
c.2837G>T (p.Cys946Phe)
c.2846G>T (p.Cys949Phe)
c.2990G>T (p.Cys997Phe)
c.*2699G>T (n.*2699G>T)
c.2972G>T (p.Cys991Phe)
c.3032G>T (p.Cys1011Phe)
c.3026G>T (p.Cys1009Phe)
n.2908G>T
c.2954G>T (p.Cys985Phe)
c.2924G>T (p.Cys975Phe)
c.955G>T (n.955G>T)
c.3224G>T (p.Cys1075Phe)
c.3233G>T (p.Cys1078Phe)
c.2579G>T (p.Cys860Phe)
c.3023G>T (p.Cys1008Phe)
9g.135784823C>ACA375518163KCNT1c.3090C>A (p.Cys1030Ter)
c.2931C>A (p.Cys977Ter)
c.2838C>A (p.Cys946Ter)
c.2847C>A (p.Cys949Ter)
c.2991C>A (p.Cys997Ter)
c.*2700C>A (n.*2700C>A)
c.2973C>A (p.Cys991Ter)
c.3033C>A (p.Cys1011Ter)
c.3027C>A (p.Cys1009Ter)
n.2909C>A
c.2955C>A (p.Cys985Ter)
c.2925C>A (p.Cys975Ter)
c.956C>A (n.956C>A)
c.3225C>A (p.Cys1075Ter)
c.3234C>A (p.Cys1078Ter)
c.2580C>A (p.Cys860Ter)
c.3024C>A (p.Cys1008Ter)
9g.135784823C>GCA375518164KCNT1c.3090C>G (p.Cys1030Trp)
c.2931C>G (p.Cys977Trp)
c.2838C>G (p.Cys946Trp)
c.2847C>G (p.Cys949Trp)
c.2991C>G (p.Cys997Trp)
c.*2700C>G (n.*2700C>G)
c.2973C>G (p.Cys991Trp)
c.3033C>G (p.Cys1011Trp)
c.3027C>G (p.Cys1009Trp)
n.2909C>G
c.2955C>G (p.Cys985Trp)
c.2925C>G (p.Cys975Trp)
c.956C>G (n.956C>G)
c.3225C>G (p.Cys1075Trp)
c.3234C>G (p.Cys1078Trp)
c.2580C>G (p.Cys860Trp)
c.3024C>G (p.Cys1008Trp)
9g.135784823C>TCA467820990KCNT1c.3090C>T (p.Cys1030=)
c.2931C>T (p.Cys977=)
c.2838C>T (p.Cys946=)
c.2847C>T (p.Cys949=)
c.2991C>T (p.Cys997=)
c.*2700C>T (n.*2700C>T)
c.2973C>T (p.Cys991=)
c.3033C>T (p.Cys1011=)
c.3027C>T (p.Cys1009=)
n.2909C>T
c.2955C>T (p.Cys985=)
c.2925C>T (p.Cys975=)
c.956C>T (n.956C>T)
c.3225C>T (p.Cys1075=)
c.3234C>T (p.Cys1078=)
c.2580C>T (p.Cys860=)
c.3024C>T (p.Cys1008=)
9g.135784824T>ACA375518165KCNT1c.3091T>A (p.Ser1031Thr)
c.2932T>A (p.Ser978Thr)
c.2839T>A (p.Ser947Thr)
c.2848T>A (p.Ser950Thr)
c.2992T>A (p.Ser998Thr)
c.*2701T>A (n.*2701T>A)
c.2974T>A (p.Ser992Thr)
c.3034T>A (p.Ser1012Thr)
c.3028T>A (p.Ser1010Thr)
n.2910T>A
c.2956T>A (p.Ser986Thr)
c.2926T>A (p.Ser976Thr)
c.957T>A (n.957T>A)
c.3226T>A (p.Ser1076Thr)
c.3235T>A (p.Ser1079Thr)
c.2581T>A (p.Ser861Thr)
c.3025T>A (p.Ser1009Thr)
9g.135784824T>CCA201483776KCNT1c.3091T>C (p.Ser1031Pro)
c.2932T>C (p.Ser978Pro)
c.2839T>C (p.Ser947Pro)
c.2848T>C (p.Ser950Pro)
c.2992T>C (p.Ser998Pro)
c.*2701T>C (n.*2701T>C)
c.2974T>C (p.Ser992Pro)
c.3034T>C (p.Ser1012Pro)
c.3028T>C (p.Ser1010Pro)
n.2910T>C
c.2956T>C (p.Ser986Pro)
c.2926T>C (p.Ser976Pro)
c.957T>C (n.957T>C)
c.3226T>C (p.Ser1076Pro)
c.3235T>C (p.Ser1079Pro)
c.2581T>C (p.Ser861Pro)
c.3025T>C (p.Ser1009Pro)
 dbSNP
9g.135784824T>GCA375518166KCNT1c.3091T>G (p.Ser1031Ala)
c.2932T>G (p.Ser978Ala)
c.2839T>G (p.Ser947Ala)
c.2848T>G (p.Ser950Ala)
c.2992T>G (p.Ser998Ala)
c.*2701T>G (n.*2701T>G)
c.2974T>G (p.Ser992Ala)
c.3034T>G (p.Ser1012Ala)
c.3028T>G (p.Ser1010Ala)
n.2910T>G
c.2956T>G (p.Ser986Ala)
c.2926T>G (p.Ser976Ala)
c.957T>G (n.957T>G)
c.3226T>G (p.Ser1076Ala)
c.3235T>G (p.Ser1079Ala)
c.2581T>G (p.Ser861Ala)
c.3025T>G (p.Ser1009Ala)
9g.135784824T=CA1883884357KCNT1c.3091T= (p.Ser1031=)
c.2932T= (p.Ser978=)
c.2839T= (p.Ser947=)
c.2848T= (p.Ser950=)
c.2992T= (p.Ser998=)
c.*2701T= (n.*2701T=)
c.2974T= (p.Ser992=)
c.3034T= (p.Ser1012=)
c.3028T= (p.Ser1010=)
n.2910T=
c.2956T= (p.Ser986=)
c.2926T= (p.Ser976=)
c.957T= (n.957T=)
c.3226T= (p.Ser1076=)
c.3235T= (p.Ser1079=)
c.2581T= (p.Ser861=)
c.3025T= (p.Ser1009=)
9g.135784825C>ACA375518167KCNT1c.3092C>A (p.Ser1031Tyr)
c.2933C>A (p.Ser978Tyr)
c.2840C>A (p.Ser947Tyr)
c.2849C>A (p.Ser950Tyr)
c.2993C>A (p.Ser998Tyr)
c.*2702C>A (n.*2702C>A)
c.2975C>A (p.Ser992Tyr)
c.3035C>A (p.Ser1012Tyr)
c.3029C>A (p.Ser1010Tyr)
n.2911C>A
c.2957C>A (p.Ser986Tyr)
c.2927C>A (p.Ser976Tyr)
c.958C>A (n.958C>A)
c.3227C>A (p.Ser1076Tyr)
c.3236C>A (p.Ser1079Tyr)
c.2582C>A (p.Ser861Tyr)
c.3026C>A (p.Ser1009Tyr)
9g.135784825C=CA1883884363KCNT1c.3092C= (p.Ser1031=)
c.2933C= (p.Ser978=)
c.2840C= (p.Ser947=)
c.2849C= (p.Ser950=)
c.2993C= (p.Ser998=)
c.*2702C= (n.*2702C=)
c.2975C= (p.Ser992=)
c.3035C= (p.Ser1012=)
c.3029C= (p.Ser1010=)
n.2911C=
c.2957C= (p.Ser986=)
c.2927C= (p.Ser976=)
c.958C= (n.958C=)
c.3227C= (p.Ser1076=)
c.3236C= (p.Ser1079=)
c.2582C= (p.Ser861=)
c.3026C= (p.Ser1009=)
9g.135784825C>GCA201483777KCNT1c.3092C>G (p.Ser1031Cys)
c.2933C>G (p.Ser978Cys)
c.2840C>G (p.Ser947Cys)
c.2849C>G (p.Ser950Cys)
c.2993C>G (p.Ser998Cys)
c.*2702C>G (n.*2702C>G)
c.2975C>G (p.Ser992Cys)
c.3035C>G (p.Ser1012Cys)
c.3029C>G (p.Ser1010Cys)
n.2911C>G
c.2957C>G (p.Ser986Cys)
c.2927C>G (p.Ser976Cys)
c.958C>G (n.958C>G)
c.3227C>G (p.Ser1076Cys)
c.3236C>G (p.Ser1079Cys)
c.2582C>G (p.Ser861Cys)
c.3026C>G (p.Ser1009Cys)
 dbSNP gnomAD v3 gnomAD v4
9g.135784825C>TCA5327611KCNT1c.3092C>T (p.Ser1031Phe)
c.2933C>T (p.Ser978Phe)
c.2840C>T (p.Ser947Phe)
c.2849C>T (p.Ser950Phe)
c.2993C>T (p.Ser998Phe)
c.*2702C>T (n.*2702C>T)
c.2975C>T (p.Ser992Phe)
c.3035C>T (p.Ser1012Phe)
c.3029C>T (p.Ser1010Phe)
n.2911C>T
c.2957C>T (p.Ser986Phe)
c.2927C>T (p.Ser976Phe)
c.958C>T (n.958C>T)
c.3227C>T (p.Ser1076Phe)
c.3236C>T (p.Ser1079Phe)
c.2582C>T (p.Ser861Phe)
c.3026C>T (p.Ser1009Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135784826C>ACA467820992KCNT1c.3093C>A (p.Ser1031=)
c.2934C>A (p.Ser978=)
c.2841C>A (p.Ser947=)
c.2850C>A (p.Ser950=)
c.2994C>A (p.Ser998=)
c.*2703C>A (n.*2703C>A)
c.2976C>A (p.Ser992=)
c.3036C>A (p.Ser1012=)
c.3030C>A (p.Ser1010=)
n.2912C>A
c.2958C>A (p.Ser986=)
c.2928C>A (p.Ser976=)
c.959C>A (n.959C>A)
c.3228C>A (p.Ser1076=)
c.3237C>A (p.Ser1079=)
c.2583C>A (p.Ser861=)
c.3027C>A (p.Ser1009=)
9g.135784826C=CA1883884368KCNT1c.3093C= (p.Ser1031=)
c.2934C= (p.Ser978=)
c.2841C= (p.Ser947=)
c.2850C= (p.Ser950=)
c.2994C= (p.Ser998=)
c.*2703C= (n.*2703C=)
c.2976C= (p.Ser992=)
c.3036C= (p.Ser1012=)
c.3030C= (p.Ser1010=)
n.2912C=
c.2958C= (p.Ser986=)
c.2928C= (p.Ser976=)
c.959C= (n.959C=)
c.3228C= (p.Ser1076=)
c.3237C= (p.Ser1079=)
c.2583C= (p.Ser861=)
c.3027C= (p.Ser1009=)
9g.135784826C>GCA467820993KCNT1c.3093C>G (p.Ser1031=)
c.2934C>G (p.Ser978=)
c.2841C>G (p.Ser947=)
c.2850C>G (p.Ser950=)
c.2994C>G (p.Ser998=)
c.*2703C>G (n.*2703C>G)
c.2976C>G (p.Ser992=)
c.3036C>G (p.Ser1012=)
c.3030C>G (p.Ser1010=)
n.2912C>G
c.2958C>G (p.Ser986=)
c.2928C>G (p.Ser976=)
c.959C>G (n.959C>G)
c.3228C>G (p.Ser1076=)
c.3237C>G (p.Ser1079=)
c.2583C>G (p.Ser861=)
c.3027C>G (p.Ser1009=)
 gnomAD v4
9g.135784826C>TCA467820994KCNT1c.3093C>T (p.Ser1031=)
c.2934C>T (p.Ser978=)
c.2841C>T (p.Ser947=)
c.2850C>T (p.Ser950=)
c.2994C>T (p.Ser998=)
c.*2703C>T (n.*2703C>T)
c.2976C>T (p.Ser992=)
c.3036C>T (p.Ser1012=)
c.3030C>T (p.Ser1010=)
n.2912C>T
c.2958C>T (p.Ser986=)
c.2928C>T (p.Ser976=)
c.959C>T (n.959C>T)
c.3228C>T (p.Ser1076=)
c.3237C>T (p.Ser1079=)
c.2583C>T (p.Ser861=)
c.3027C>T (p.Ser1009=)
 dbSNP
9g.135784827T>ACA375518168KCNT1c.3094T>A (p.Ser1032Thr)
c.2935T>A (p.Ser979Thr)
c.2842T>A (p.Ser948Thr)
c.2851T>A (p.Ser951Thr)
c.2995T>A (p.Ser999Thr)
c.*2704T>A (n.*2704T>A)
c.2977T>A (p.Ser993Thr)
c.3037T>A (p.Ser1013Thr)
c.3031T>A (p.Ser1011Thr)
n.2913T>A
c.2959T>A (p.Ser987Thr)
c.2929T>A (p.Ser977Thr)
c.960T>A (n.960T>A)
c.3229T>A (p.Ser1077Thr)
c.3238T>A (p.Ser1080Thr)
c.2584T>A (p.Ser862Thr)
c.3028T>A (p.Ser1010Thr)
9g.135784827T>CCA375518170KCNT1c.3094T>C (p.Ser1032Pro)
c.2935T>C (p.Ser979Pro)
c.2842T>C (p.Ser948Pro)
c.2851T>C (p.Ser951Pro)
c.2995T>C (p.Ser999Pro)
c.*2704T>C (n.*2704T>C)
c.2977T>C (p.Ser993Pro)
c.3037T>C (p.Ser1013Pro)
c.3031T>C (p.Ser1011Pro)
n.2913T>C
c.2959T>C (p.Ser987Pro)
c.2929T>C (p.Ser977Pro)
c.960T>C (n.960T>C)
c.3229T>C (p.Ser1077Pro)
c.3238T>C (p.Ser1080Pro)
c.2584T>C (p.Ser862Pro)
c.3028T>C (p.Ser1010Pro)
9g.135784827T>GCA375518169KCNT1c.3094T>G (p.Ser1032Ala)
c.2935T>G (p.Ser979Ala)
c.2842T>G (p.Ser948Ala)
c.2851T>G (p.Ser951Ala)
c.2995T>G (p.Ser999Ala)
c.*2704T>G (n.*2704T>G)
c.2977T>G (p.Ser993Ala)
c.3037T>G (p.Ser1013Ala)
c.3031T>G (p.Ser1011Ala)
n.2913T>G
c.2959T>G (p.Ser987Ala)
c.2929T>G (p.Ser977Ala)
c.960T>G (n.960T>G)
c.3229T>G (p.Ser1077Ala)
c.3238T>G (p.Ser1080Ala)
c.2584T>G (p.Ser862Ala)
c.3028T>G (p.Ser1010Ala)
9g.135784828C>ACA375518171KCNT1c.3095C>A (p.Ser1032Tyr)
c.2936C>A (p.Ser979Tyr)
c.2843C>A (p.Ser948Tyr)
c.2852C>A (p.Ser951Tyr)
c.2996C>A (p.Ser999Tyr)
c.*2705C>A (n.*2705C>A)
c.2978C>A (p.Ser993Tyr)
c.3038C>A (p.Ser1013Tyr)
c.3032C>A (p.Ser1011Tyr)
n.2914C>A
c.2960C>A (p.Ser987Tyr)
c.2930C>A (p.Ser977Tyr)
c.961C>A (n.961C>A)
c.3230C>A (p.Ser1077Tyr)
c.3239C>A (p.Ser1080Tyr)
c.2585C>A (p.Ser862Tyr)
c.3029C>A (p.Ser1010Tyr)
9g.135784828C=CA1883884371KCNT1c.3095C= (p.Ser1032=)
c.2936C= (p.Ser979=)
c.2843C= (p.Ser948=)
c.2852C= (p.Ser951=)
c.2996C= (p.Ser999=)
c.*2705C= (n.*2705C=)
c.2978C= (p.Ser993=)
c.3038C= (p.Ser1013=)
c.3032C= (p.Ser1011=)
n.2914C=
c.2960C= (p.Ser987=)
c.2930C= (p.Ser977=)
c.961C= (n.961C=)
c.3230C= (p.Ser1077=)
c.3239C= (p.Ser1080=)
c.2585C= (p.Ser862=)
c.3029C= (p.Ser1010=)
9g.135784828C>GCA375518172KCNT1c.3095C>G (p.Ser1032Cys)
c.2936C>G (p.Ser979Cys)
c.2843C>G (p.Ser948Cys)
c.2852C>G (p.Ser951Cys)
c.2996C>G (p.Ser999Cys)
c.*2705C>G (n.*2705C>G)
c.2978C>G (p.Ser993Cys)
c.3038C>G (p.Ser1013Cys)
c.3032C>G (p.Ser1011Cys)
n.2914C>G
c.2960C>G (p.Ser987Cys)
c.2930C>G (p.Ser977Cys)
c.961C>G (n.961C>G)
c.3230C>G (p.Ser1077Cys)
c.3239C>G (p.Ser1080Cys)
c.2585C>G (p.Ser862Cys)
c.3029C>G (p.Ser1010Cys)
 dbSNP gnomAD v4
9g.135784828C>TCA375518173KCNT1c.3095C>T (p.Ser1032Phe)
c.2936C>T (p.Ser979Phe)
c.2843C>T (p.Ser948Phe)
c.2852C>T (p.Ser951Phe)
c.2996C>T (p.Ser999Phe)
c.*2705C>T (n.*2705C>T)
c.2978C>T (p.Ser993Phe)
c.3038C>T (p.Ser1013Phe)
c.3032C>T (p.Ser1011Phe)
n.2914C>T
c.2960C>T (p.Ser987Phe)
c.2930C>T (p.Ser977Phe)
c.961C>T (n.961C>T)
c.3230C>T (p.Ser1077Phe)
c.3239C>T (p.Ser1080Phe)
c.2585C>T (p.Ser862Phe)
c.3029C>T (p.Ser1010Phe)
9g.135784829C>ACA467820999KCNT1c.3096C>A (p.Ser1032=)
c.2937C>A (p.Ser979=)
c.2844C>A (p.Ser948=)
c.2853C>A (p.Ser951=)
c.2997C>A (p.Ser999=)
c.*2706C>A (n.*2706C>A)
c.2979C>A (p.Ser993=)
c.3039C>A (p.Ser1013=)
c.3033C>A (p.Ser1011=)
n.2915C>A
c.2961C>A (p.Ser987=)
c.2931C>A (p.Ser977=)
c.962C>A (n.962C>A)
c.3231C>A (p.Ser1077=)
c.3240C>A (p.Ser1080=)
c.2586C>A (p.Ser862=)
c.3030C>A (p.Ser1010=)
 gnomAD v4
9g.135784829C=CA1883884375KCNT1c.3096C= (p.Ser1032=)
c.2937C= (p.Ser979=)
c.2844C= (p.Ser948=)
c.2853C= (p.Ser951=)
c.2997C= (p.Ser999=)
c.*2706C= (n.*2706C=)
c.2979C= (p.Ser993=)
c.3039C= (p.Ser1013=)
c.3033C= (p.Ser1011=)
n.2915C=
c.2961C= (p.Ser987=)
c.2931C= (p.Ser977=)
c.962C= (n.962C=)
c.3231C= (p.Ser1077=)
c.3240C= (p.Ser1080=)
c.2586C= (p.Ser862=)
c.3030C= (p.Ser1010=)
9g.135784829C>GCA467820998KCNT1c.3096C>G (p.Ser1032=)
c.2937C>G (p.Ser979=)
c.2844C>G (p.Ser948=)
c.2853C>G (p.Ser951=)
c.2997C>G (p.Ser999=)
c.*2706C>G (n.*2706C>G)
c.2979C>G (p.Ser993=)
c.3039C>G (p.Ser1013=)
c.3033C>G (p.Ser1011=)
n.2915C>G
c.2961C>G (p.Ser987=)
c.2931C>G (p.Ser977=)
c.962C>G (n.962C>G)
c.3231C>G (p.Ser1077=)
c.3240C>G (p.Ser1080=)
c.2586C>G (p.Ser862=)
c.3030C>G (p.Ser1010=)
9g.135784829C>TCA467820997KCNT1c.3096C>T (p.Ser1032=)
c.2937C>T (p.Ser979=)
c.2844C>T (p.Ser948=)
c.2853C>T (p.Ser951=)
c.2997C>T (p.Ser999=)
c.*2706C>T (n.*2706C>T)
c.2979C>T (p.Ser993=)
c.3039C>T (p.Ser1013=)
c.3033C>T (p.Ser1011=)
n.2915C>T
c.2961C>T (p.Ser987=)
c.2931C>T (p.Ser977=)
c.962C>T (n.962C>T)
c.3231C>T (p.Ser1077=)
c.3240C>T (p.Ser1080=)
c.2586C>T (p.Ser862=)
c.3030C>T (p.Ser1010=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135784830A>CCA375518174KCNT1c.3097A>C (p.Ser1033Arg)
c.2938A>C (p.Ser980Arg)
c.2845A>C (p.Ser949Arg)
c.2854A>C (p.Ser952Arg)
c.2998A>C (p.Ser1000Arg)
c.*2707A>C (n.*2707A>C)
c.2980A>C (p.Ser994Arg)
c.3040A>C (p.Ser1014Arg)
c.3034A>C (p.Ser1012Arg)
n.2916A>C
c.2962A>C (p.Ser988Arg)
c.2932A>C (p.Ser978Arg)
c.963A>C (n.963A>C)
c.3232A>C (p.Ser1078Arg)
c.3241A>C (p.Ser1081Arg)
c.2587A>C (p.Ser863Arg)
c.3031A>C (p.Ser1011Arg)
9g.135784830A>GCA375518175KCNT1c.3097A>G (p.Ser1033Gly)
c.2938A>G (p.Ser980Gly)
c.2845A>G (p.Ser949Gly)
c.2854A>G (p.Ser952Gly)
c.2998A>G (p.Ser1000Gly)
c.*2707A>G (n.*2707A>G)
c.2980A>G (p.Ser994Gly)
c.3040A>G (p.Ser1014Gly)
c.3034A>G (p.Ser1012Gly)
n.2916A>G
c.2962A>G (p.Ser988Gly)
c.2932A>G (p.Ser978Gly)
c.963A>G (n.963A>G)
c.3232A>G (p.Ser1078Gly)
c.3241A>G (p.Ser1081Gly)
c.2587A>G (p.Ser863Gly)
c.3031A>G (p.Ser1011Gly)
 gnomAD v4
9g.135784830A>TCA375518176KCNT1c.3097A>T (p.Ser1033Cys)
c.2938A>T (p.Ser980Cys)
c.2845A>T (p.Ser949Cys)
c.2854A>T (p.Ser952Cys)
c.2998A>T (p.Ser1000Cys)
c.*2707A>T (n.*2707A>T)
c.2980A>T (p.Ser994Cys)
c.3040A>T (p.Ser1014Cys)
c.3034A>T (p.Ser1012Cys)
n.2916A>T
c.2962A>T (p.Ser988Cys)
c.2932A>T (p.Ser978Cys)
c.963A>T (n.963A>T)
c.3232A>T (p.Ser1078Cys)
c.3241A>T (p.Ser1081Cys)
c.2587A>T (p.Ser863Cys)
c.3031A>T (p.Ser1011Cys)
9g.135784831G>ACA375518177KCNT1c.3098G>A (p.Ser1033Asn)
c.2939G>A (p.Ser980Asn)
c.2846G>A (p.Ser949Asn)
c.2855G>A (p.Ser952Asn)
c.2999G>A (p.Ser1000Asn)
c.*2708G>A (n.*2708G>A)
c.2981G>A (p.Ser994Asn)
c.3041G>A (p.Ser1014Asn)
c.3035G>A (p.Ser1012Asn)
n.2917G>A
c.2963G>A (p.Ser988Asn)
c.2933G>A (p.Ser978Asn)
c.964G>A (n.964G>A)
c.3233G>A (p.Ser1078Asn)
c.3242G>A (p.Ser1081Asn)
c.2588G>A (p.Ser863Asn)
c.3032G>A (p.Ser1011Asn)
9g.135784831G>CCA375518178KCNT1c.3098G>C (p.Ser1033Thr)
c.2939G>C (p.Ser980Thr)
c.2846G>C (p.Ser949Thr)
c.2855G>C (p.Ser952Thr)
c.2999G>C (p.Ser1000Thr)
c.*2708G>C (n.*2708G>C)
c.2981G>C (p.Ser994Thr)
c.3041G>C (p.Ser1014Thr)
c.3035G>C (p.Ser1012Thr)
n.2917G>C
c.2963G>C (p.Ser988Thr)
c.2933G>C (p.Ser978Thr)
c.964G>C (n.964G>C)
c.3233G>C (p.Ser1078Thr)
c.3242G>C (p.Ser1081Thr)
c.2588G>C (p.Ser863Thr)
c.3032G>C (p.Ser1011Thr)
 dbSNP gnomAD v3 gnomAD v4
9g.135784831G=CA1883884384KCNT1c.3098G= (p.Ser1033=)
c.2939G= (p.Ser980=)
c.2846G= (p.Ser949=)
c.2855G= (p.Ser952=)
c.2999G= (p.Ser1000=)
c.*2708G= (n.*2708G=)
c.2981G= (p.Ser994=)
c.3041G= (p.Ser1014=)
c.3035G= (p.Ser1012=)
n.2917G=
c.2963G= (p.Ser988=)
c.2933G= (p.Ser978=)
c.964G= (n.964G=)
c.3233G= (p.Ser1078=)
c.3242G= (p.Ser1081=)
c.2588G= (p.Ser863=)
c.3032G= (p.Ser1011=)
9g.135784831G>TCA375518179KCNT1c.3098G>T (p.Ser1033Ile)
c.2939G>T (p.Ser980Ile)
c.2846G>T (p.Ser949Ile)
c.2855G>T (p.Ser952Ile)
c.2999G>T (p.Ser1000Ile)
c.*2708G>T (n.*2708G>T)
c.2981G>T (p.Ser994Ile)
c.3041G>T (p.Ser1014Ile)
c.3035G>T (p.Ser1012Ile)
n.2917G>T
c.2963G>T (p.Ser988Ile)
c.2933G>T (p.Ser978Ile)
c.964G>T (n.964G>T)
c.3233G>T (p.Ser1078Ile)
c.3242G>T (p.Ser1081Ile)
c.2588G>T (p.Ser863Ile)
c.3032G>T (p.Ser1011Ile)
9g.135784832C>ACA375518180KCNT1c.3099C>A (p.Ser1033Arg)
c.2940C>A (p.Ser980Arg)
c.2847C>A (p.Ser949Arg)
c.2856C>A (p.Ser952Arg)
c.3000C>A (p.Ser1000Arg)
c.*2709C>A (n.*2709C>A)
c.2982C>A (p.Ser994Arg)
c.3042C>A (p.Ser1014Arg)
c.3036C>A (p.Ser1012Arg)
n.2918C>A
c.2964C>A (p.Ser988Arg)
c.2934C>A (p.Ser978Arg)
c.965C>A (n.965C>A)
c.3234C>A (p.Ser1078Arg)
c.3243C>A (p.Ser1081Arg)
c.2589C>A (p.Ser863Arg)
c.3033C>A (p.Ser1011Arg)
9g.135784832C=CA1883884394KCNT1c.3099C= (p.Ser1033=)
c.2940C= (p.Ser980=)
c.2847C= (p.Ser949=)
c.2856C= (p.Ser952=)
c.3000C= (p.Ser1000=)
c.*2709C= (n.*2709C=)
c.2982C= (p.Ser994=)
c.3042C= (p.Ser1014=)
c.3036C= (p.Ser1012=)
n.2918C=
c.2964C= (p.Ser988=)
c.2934C= (p.Ser978=)
c.965C= (n.965C=)
c.3234C= (p.Ser1078=)
c.3243C= (p.Ser1081=)
c.2589C= (p.Ser863=)
c.3033C= (p.Ser1011=)
9g.135784832C>GCA375518181KCNT1c.3099C>G (p.Ser1033Arg)
c.2940C>G (p.Ser980Arg)
c.2847C>G (p.Ser949Arg)
c.2856C>G (p.Ser952Arg)
c.3000C>G (p.Ser1000Arg)
c.*2709C>G (n.*2709C>G)
c.2982C>G (p.Ser994Arg)
c.3042C>G (p.Ser1014Arg)
c.3036C>G (p.Ser1012Arg)
n.2918C>G
c.2964C>G (p.Ser988Arg)
c.2934C>G (p.Ser978Arg)
c.965C>G (n.965C>G)
c.3234C>G (p.Ser1078Arg)
c.3243C>G (p.Ser1081Arg)
c.2589C>G (p.Ser863Arg)
c.3033C>G (p.Ser1011Arg)
9g.135784832C>TCA5327612KCNT1c.3099C>T (p.Ser1033=)
c.2940C>T (p.Ser980=)
c.2847C>T (p.Ser949=)
c.2856C>T (p.Ser952=)
c.3000C>T (p.Ser1000=)
c.*2709C>T (n.*2709C>T)
c.2982C>T (p.Ser994=)
c.3042C>T (p.Ser1014=)
c.3036C>T (p.Ser1012=)
n.2918C>T
c.2964C>T (p.Ser988=)
c.2934C>T (p.Ser978=)
c.965C>T (n.965C>T)
c.3234C>T (p.Ser1078=)
c.3243C>T (p.Ser1081=)
c.2589C>T (p.Ser863=)
c.3033C>T (p.Ser1011=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135784833G>ACA5327613KCNT1c.3100G>A (p.Ala1034Thr)
c.2941G>A (p.Ala981Thr)
c.2848G>A (p.Ala950Thr)
c.2857G>A (p.Ala953Thr)
c.3001G>A (p.Ala1001Thr)
c.*2710G>A (n.*2710G>A)
c.2983G>A (p.Ala995Thr)
c.3043G>A (p.Ala1015Thr)
c.3037G>A (p.Ala1013Thr)
n.2919G>A
c.2965G>A (p.Ala989Thr)
c.2935G>A (p.Ala979Thr)
c.966G>A (n.966G>A)
c.3235G>A (p.Ala1079Thr)
c.3244G>A (p.Ala1082Thr)
c.2590G>A (p.Ala864Thr)
c.3034G>A (p.Ala1012Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135784833G>CCA375518182KCNT1c.3100G>C (p.Ala1034Pro)
c.2941G>C (p.Ala981Pro)
c.2848G>C (p.Ala950Pro)
c.2857G>C (p.Ala953Pro)
c.3001G>C (p.Ala1001Pro)
c.*2710G>C (n.*2710G>C)
c.2983G>C (p.Ala995Pro)
c.3043G>C (p.Ala1015Pro)
c.3037G>C (p.Ala1013Pro)
n.2919G>C
c.2965G>C (p.Ala989Pro)
c.2935G>C (p.Ala979Pro)
c.966G>C (n.966G>C)
c.3235G>C (p.Ala1079Pro)
c.3244G>C (p.Ala1082Pro)
c.2590G>C (p.Ala864Pro)
c.3034G>C (p.Ala1012Pro)
9g.135784833G=CA1883884402KCNT1c.3100G= (p.Ala1034=)
c.2941G= (p.Ala981=)
c.2848G= (p.Ala950=)
c.2857G= (p.Ala953=)
c.3001G= (p.Ala1001=)
c.*2710G= (n.*2710G=)
c.2983G= (p.Ala995=)
c.3043G= (p.Ala1015=)
c.3037G= (p.Ala1013=)
n.2919G=
c.2965G= (p.Ala989=)
c.2935G= (p.Ala979=)
c.966G= (n.966G=)
c.3235G= (p.Ala1079=)
c.3244G= (p.Ala1082=)
c.2590G= (p.Ala864=)
c.3034G= (p.Ala1012=)
9g.135784833G>TCA375518183KCNT1c.3100G>T (p.Ala1034Ser)
c.2941G>T (p.Ala981Ser)
c.2848G>T (p.Ala950Ser)
c.2857G>T (p.Ala953Ser)
c.3001G>T (p.Ala1001Ser)
c.*2710G>T (n.*2710G>T)
c.2983G>T (p.Ala995Ser)
c.3043G>T (p.Ala1015Ser)
c.3037G>T (p.Ala1013Ser)
n.2919G>T
c.2965G>T (p.Ala989Ser)
c.2935G>T (p.Ala979Ser)
c.966G>T (n.966G>T)
c.3235G>T (p.Ala1079Ser)
c.3244G>T (p.Ala1082Ser)
c.2590G>T (p.Ala864Ser)
c.3034G>T (p.Ala1012Ser)
9g.135784834C>ACA375518184KCNT1c.3101C>A (p.Ala1034Asp)
c.2942C>A (p.Ala981Asp)
c.2849C>A (p.Ala950Asp)
c.2858C>A (p.Ala953Asp)
c.3002C>A (p.Ala1001Asp)
c.*2711C>A (n.*2711C>A)
c.2984C>A (p.Ala995Asp)
c.3044C>A (p.Ala1015Asp)
c.3038C>A (p.Ala1013Asp)
n.2920C>A
c.2966C>A (p.Ala989Asp)
c.2936C>A (p.Ala979Asp)
c.967C>A (n.967C>A)
c.3236C>A (p.Ala1079Asp)
c.3245C>A (p.Ala1082Asp)
c.2591C>A (p.Ala864Asp)
c.3035C>A (p.Ala1012Asp)
9g.135784834C>GCA375518185KCNT1c.3101C>G (p.Ala1034Gly)
c.2942C>G (p.Ala981Gly)
c.2849C>G (p.Ala950Gly)
c.2858C>G (p.Ala953Gly)
c.3002C>G (p.Ala1001Gly)
c.*2711C>G (n.*2711C>G)
c.2984C>G (p.Ala995Gly)
c.3044C>G (p.Ala1015Gly)
c.3038C>G (p.Ala1013Gly)
n.2920C>G
c.2966C>G (p.Ala989Gly)
c.2936C>G (p.Ala979Gly)
c.967C>G (n.967C>G)
c.3236C>G (p.Ala1079Gly)
c.3245C>G (p.Ala1082Gly)
c.2591C>G (p.Ala864Gly)
c.3035C>G (p.Ala1012Gly)
9g.135784834C>TCA375518186KCNT1c.3101C>T (p.Ala1034Val)
c.2942C>T (p.Ala981Val)
c.2849C>T (p.Ala950Val)
c.2858C>T (p.Ala953Val)
c.3002C>T (p.Ala1001Val)
c.*2711C>T (n.*2711C>T)
c.2984C>T (p.Ala995Val)
c.3044C>T (p.Ala1015Val)
c.3038C>T (p.Ala1013Val)
n.2920C>T
c.2966C>T (p.Ala989Val)
c.2936C>T (p.Ala979Val)
c.967C>T (n.967C>T)
c.3236C>T (p.Ala1079Val)
c.3245C>T (p.Ala1082Val)
c.2591C>T (p.Ala864Val)
c.3035C>T (p.Ala1012Val)
9g.135784836_135784844delCA645541869KCNT1c.3103_3111del (p.Glu1035_Pro1037del)
c.2944_2952del (p.Glu982_Pro984del)
c.2851_2859del (p.Glu951_Pro953del)
c.2860_2868del (p.Glu954_Pro956del)
c.3004_3012del (p.Glu1002_Pro1004del)
c.*2713_*2721del (n.*2713_*2721del)
c.2986_2994del (p.Glu996_Pro998del)
c.3046_3054del (p.Glu1016_Pro1018del)
c.3040_3048del (p.Glu1014_Pro1016del)
n.2922_2930del
c.2968_2976del (p.Glu990_Pro992del)
c.2938_2946del (p.Glu980_Pro982del)
c.969_977del (n.969_977del)
c.3238_3246del (p.Glu1080_Pro1082del)
c.3247_3255del (p.Glu1083_Pro1085del)
c.2593_2601del (p.Glu865_Pro867del)
c.3037_3045del (p.Glu1013_Pro1015del)
 COSMIC COSMIC
9g.135784835C>ACA467821003KCNT1c.3102C>A (p.Ala1034=)
c.2943C>A (p.Ala981=)
c.2850C>A (p.Ala950=)
c.2859C>A (p.Ala953=)
c.3003C>A (p.Ala1001=)
c.*2712C>A (n.*2712C>A)
c.2985C>A (p.Ala995=)
c.3045C>A (p.Ala1015=)
c.3039C>A (p.Ala1013=)
n.2921C>A
c.2967C>A (p.Ala989=)
c.2937C>A (p.Ala979=)
c.968C>A (n.968C>A)
c.3237C>A (p.Ala1079=)
c.3246C>A (p.Ala1082=)
c.2592C>A (p.Ala864=)
c.3036C>A (p.Ala1012=)
 dbSNP gnomAD v3 gnomAD v4
9g.135784835C=CA1883884407KCNT1c.3102C= (p.Ala1034=)
c.2943C= (p.Ala981=)
c.2850C= (p.Ala950=)
c.2859C= (p.Ala953=)
c.3003C= (p.Ala1001=)
c.*2712C= (n.*2712C=)
c.2985C= (p.Ala995=)
c.3045C= (p.Ala1015=)
c.3039C= (p.Ala1013=)
n.2921C=
c.2967C= (p.Ala989=)
c.2937C= (p.Ala979=)
c.968C= (n.968C=)
c.3237C= (p.Ala1079=)
c.3246C= (p.Ala1082=)
c.2592C= (p.Ala864=)
c.3036C= (p.Ala1012=)
9g.135784835C>GCA467821004KCNT1c.3102C>G (p.Ala1034=)
c.2943C>G (p.Ala981=)
c.2850C>G (p.Ala950=)
c.2859C>G (p.Ala953=)
c.3003C>G (p.Ala1001=)
c.*2712C>G (n.*2712C>G)
c.2985C>G (p.Ala995=)
c.3045C>G (p.Ala1015=)
c.3039C>G (p.Ala1013=)
n.2921C>G
c.2967C>G (p.Ala989=)
c.2937C>G (p.Ala979=)
c.968C>G (n.968C>G)
c.3237C>G (p.Ala1079=)
c.3246C>G (p.Ala1082=)
c.2592C>G (p.Ala864=)
c.3036C>G (p.Ala1012=)
 gnomAD v4
9g.135784835C>TCA467821005KCNT1c.3102C>T (p.Ala1034=)
c.2943C>T (p.Ala981=)
c.2850C>T (p.Ala950=)
c.2859C>T (p.Ala953=)
c.3003C>T (p.Ala1001=)
c.*2712C>T (n.*2712C>T)
c.2985C>T (p.Ala995=)
c.3045C>T (p.Ala1015=)
c.3039C>T (p.Ala1013=)
n.2921C>T
c.2967C>T (p.Ala989=)
c.2937C>T (p.Ala979=)
c.968C>T (n.968C>T)
c.3237C>T (p.Ala1079=)
c.3246C>T (p.Ala1082=)
c.2592C>T (p.Ala864=)
c.3036C>T (p.Ala1012=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.135784836G>ACA5327614KCNT1c.3103G>A (p.Glu1035Lys)
c.2944G>A (p.Glu982Lys)
c.2851G>A (p.Glu951Lys)
c.2860G>A (p.Glu954Lys)
c.3004G>A (p.Glu1002Lys)
c.*2713G>A (n.*2713G>A)
c.2986G>A (p.Glu996Lys)
c.3046G>A (p.Glu1016Lys)
c.3040G>A (p.Glu1014Lys)
n.2922G>A
c.2968G>A (p.Glu990Lys)
c.2938G>A (p.Glu980Lys)
c.969G>A (n.969G>A)
c.3238G>A (p.Glu1080Lys)
c.3247G>A (p.Glu1083Lys)
c.2593G>A (p.Glu865Lys)
c.3037G>A (p.Glu1013Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135784836G>CCA375518187KCNT1c.3103G>C (p.Glu1035Gln)
c.2944G>C (p.Glu982Gln)
c.2851G>C (p.Glu951Gln)
c.2860G>C (p.Glu954Gln)
c.3004G>C (p.Glu1002Gln)
c.*2713G>C (n.*2713G>C)
c.2986G>C (p.Glu996Gln)
c.3046G>C (p.Glu1016Gln)
c.3040G>C (p.Glu1014Gln)
n.2922G>C
c.2968G>C (p.Glu990Gln)
c.2938G>C (p.Glu980Gln)
c.969G>C (n.969G>C)
c.3238G>C (p.Glu1080Gln)
c.3247G>C (p.Glu1083Gln)
c.2593G>C (p.Glu865Gln)
c.3037G>C (p.Glu1013Gln)
9g.135784836G=CA1883884412KCNT1c.3103G= (p.Glu1035=)
c.2944G= (p.Glu982=)
c.2851G= (p.Glu951=)
c.2860G= (p.Glu954=)
c.3004G= (p.Glu1002=)
c.*2713G= (n.*2713G=)
c.2986G= (p.Glu996=)
c.3046G= (p.Glu1016=)
c.3040G= (p.Glu1014=)
n.2922G=
c.2968G= (p.Glu990=)
c.2938G= (p.Glu980=)
c.969G= (n.969G=)
c.3238G= (p.Glu1080=)
c.3247G= (p.Glu1083=)
c.2593G= (p.Glu865=)
c.3037G= (p.Glu1013=)
9g.135784836G>TCA375518188KCNT1c.3103G>T (p.Glu1035Ter)
c.2944G>T (p.Glu982Ter)
c.2851G>T (p.Glu951Ter)
c.2860G>T (p.Glu954Ter)
c.3004G>T (p.Glu1002Ter)
c.*2713G>T (n.*2713G>T)
c.2986G>T (p.Glu996Ter)
c.3046G>T (p.Glu1016Ter)
c.3040G>T (p.Glu1014Ter)
n.2922G>T
c.2968G>T (p.Glu990Ter)
c.2938G>T (p.Glu980Ter)
c.969G>T (n.969G>T)
c.3238G>T (p.Glu1080Ter)
c.3247G>T (p.Glu1083Ter)
c.2593G>T (p.Glu865Ter)
c.3037G>T (p.Glu1013Ter)
9g.135784837A>CCA375518189KCNT1c.3104A>C (p.Glu1035Ala)
c.2945A>C (p.Glu982Ala)
c.2852A>C (p.Glu951Ala)
c.2861A>C (p.Glu954Ala)
c.3005A>C (p.Glu1002Ala)
c.*2714A>C (n.*2714A>C)
c.2987A>C (p.Glu996Ala)
c.3047A>C (p.Glu1016Ala)
c.3041A>C (p.Glu1014Ala)
n.2923A>C
c.2969A>C (p.Glu990Ala)
c.2939A>C (p.Glu980Ala)
c.970A>C (n.970A>C)
c.3239A>C (p.Glu1080Ala)
c.3248A>C (p.Glu1083Ala)
c.2594A>C (p.Glu865Ala)
c.3038A>C (p.Glu1013Ala)
9g.135784837A>GCA375518190KCNT1c.3104A>G (p.Glu1035Gly)
c.2945A>G (p.Glu982Gly)
c.2852A>G (p.Glu951Gly)
c.2861A>G (p.Glu954Gly)
c.3005A>G (p.Glu1002Gly)
c.*2714A>G (n.*2714A>G)
c.2987A>G (p.Glu996Gly)
c.3047A>G (p.Glu1016Gly)
c.3041A>G (p.Glu1014Gly)
n.2923A>G
c.2969A>G (p.Glu990Gly)
c.2939A>G (p.Glu980Gly)
c.970A>G (n.970A>G)
c.3239A>G (p.Glu1080Gly)
c.3248A>G (p.Glu1083Gly)
c.2594A>G (p.Glu865Gly)
c.3038A>G (p.Glu1013Gly)
9g.135784837A>TCA375518191KCNT1c.3104A>T (p.Glu1035Val)
c.2945A>T (p.Glu982Val)
c.2852A>T (p.Glu951Val)
c.2861A>T (p.Glu954Val)
c.3005A>T (p.Glu1002Val)
c.*2714A>T (n.*2714A>T)
c.2987A>T (p.Glu996Val)
c.3047A>T (p.Glu1016Val)
c.3041A>T (p.Glu1014Val)
n.2923A>T
c.2969A>T (p.Glu990Val)
c.2939A>T (p.Glu980Val)
c.970A>T (n.970A>T)
c.3239A>T (p.Glu1080Val)
c.3248A>T (p.Glu1083Val)
c.2594A>T (p.Glu865Val)
c.3038A>T (p.Glu1013Val)
9g.135784838G>ACA467821008KCNT1c.3105G>A (p.Glu1035=)
c.2946G>A (p.Glu982=)
c.2853G>A (p.Glu951=)
c.2862G>A (p.Glu954=)
c.3006G>A (p.Glu1002=)
c.*2715G>A (n.*2715G>A)
c.2988G>A (p.Glu996=)
c.3048G>A (p.Glu1016=)
c.3042G>A (p.Glu1014=)
n.2924G>A
c.2970G>A (p.Glu990=)
c.2940G>A (p.Glu980=)
c.971G>A (n.971G>A)
c.3240G>A (p.Glu1080=)
c.3249G>A (p.Glu1083=)
c.2595G>A (p.Glu865=)
c.3039G>A (p.Glu1013=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.135784838G>CCA375518192KCNT1c.3105G>C (p.Glu1035Asp)
c.2946G>C (p.Glu982Asp)
c.2853G>C (p.Glu951Asp)
c.2862G>C (p.Glu954Asp)
c.3006G>C (p.Glu1002Asp)
c.*2715G>C (n.*2715G>C)
c.2988G>C (p.Glu996Asp)
c.3048G>C (p.Glu1016Asp)
c.3042G>C (p.Glu1014Asp)
n.2924G>C
c.2970G>C (p.Glu990Asp)
c.2940G>C (p.Glu980Asp)
c.971G>C (n.971G>C)
c.3240G>C (p.Glu1080Asp)
c.3249G>C (p.Glu1083Asp)
c.2595G>C (p.Glu865Asp)
c.3039G>C (p.Glu1013Asp)
9g.135784838G=CA1883884419KCNT1c.3105G= (p.Glu1035=)
c.2946G= (p.Glu982=)
c.2853G= (p.Glu951=)
c.2862G= (p.Glu954=)
c.3006G= (p.Glu1002=)
c.*2715G= (n.*2715G=)
c.2988G= (p.Glu996=)
c.3048G= (p.Glu1016=)
c.3042G= (p.Glu1014=)
n.2924G=
c.2970G= (p.Glu990=)
c.2940G= (p.Glu980=)
c.971G= (n.971G=)
c.3240G= (p.Glu1080=)
c.3249G= (p.Glu1083=)
c.2595G= (p.Glu865=)
c.3039G= (p.Glu1013=)
9g.135784838G>TCA375518193KCNT1c.3105G>T (p.Glu1035Asp)
c.2946G>T (p.Glu982Asp)
c.2853G>T (p.Glu951Asp)
c.2862G>T (p.Glu954Asp)
c.3006G>T (p.Glu1002Asp)
c.*2715G>T (n.*2715G>T)
c.2988G>T (p.Glu996Asp)
c.3048G>T (p.Glu1016Asp)
c.3042G>T (p.Glu1014Asp)
n.2924G>T
c.2970G>T (p.Glu990Asp)
c.2940G>T (p.Glu980Asp)
c.971G>T (n.971G>T)
c.3240G>T (p.Glu1080Asp)
c.3249G>T (p.Glu1083Asp)
c.2595G>T (p.Glu865Asp)
c.3039G>T (p.Glu1013Asp)
9g.135784839A>CCA375518196KCNT1c.3106A>C (p.Ile1036Leu)
c.2947A>C (p.Ile983Leu)
c.2854A>C (p.Ile952Leu)
c.2863A>C (p.Ile955Leu)
c.3007A>C (p.Ile1003Leu)
c.*2716A>C (n.*2716A>C)
c.2989A>C (p.Ile997Leu)
c.3049A>C (p.Ile1017Leu)
c.3043A>C (p.Ile1015Leu)
n.2925A>C
c.2971A>C (p.Ile991Leu)
c.2941A>C (p.Ile981Leu)
c.972A>C (n.972A>C)
c.3241A>C (p.Ile1081Leu)
c.3250A>C (p.Ile1084Leu)
c.2596A>C (p.Ile866Leu)
c.3040A>C (p.Ile1014Leu)
9g.135784839A>GCA375518195KCNT1c.3106A>G (p.Ile1036Val)
c.2947A>G (p.Ile983Val)
c.2854A>G (p.Ile952Val)
c.2863A>G (p.Ile955Val)
c.3007A>G (p.Ile1003Val)
c.*2716A>G (n.*2716A>G)
c.2989A>G (p.Ile997Val)
c.3049A>G (p.Ile1017Val)
c.3043A>G (p.Ile1015Val)
n.2925A>G
c.2971A>G (p.Ile991Val)
c.2941A>G (p.Ile981Val)
c.972A>G (n.972A>G)
c.3241A>G (p.Ile1081Val)
c.3250A>G (p.Ile1084Val)
c.2596A>G (p.Ile866Val)
c.3040A>G (p.Ile1014Val)
9g.135784839A>TCA375518194KCNT1c.3106A>T (p.Ile1036Phe)
c.2947A>T (p.Ile983Phe)
c.2854A>T (p.Ile952Phe)
c.2863A>T (p.Ile955Phe)
c.3007A>T (p.Ile1003Phe)
c.*2716A>T (n.*2716A>T)
c.2989A>T (p.Ile997Phe)
c.3049A>T (p.Ile1017Phe)
c.3043A>T (p.Ile1015Phe)
n.2925A>T
c.2971A>T (p.Ile991Phe)
c.2941A>T (p.Ile981Phe)
c.972A>T (n.972A>T)
c.3241A>T (p.Ile1081Phe)
c.3250A>T (p.Ile1084Phe)
c.2596A>T (p.Ile866Phe)
c.3040A>T (p.Ile1014Phe)
9g.135784840T>ACA375518197KCNT1c.3107T>A (p.Ile1036Asn)
c.2948T>A (p.Ile983Asn)
c.2855T>A (p.Ile952Asn)
c.2864T>A (p.Ile955Asn)
c.3008T>A (p.Ile1003Asn)
c.*2717T>A (n.*2717T>A)
c.2990T>A (p.Ile997Asn)
c.3050T>A (p.Ile1017Asn)
c.3044T>A (p.Ile1015Asn)
n.2926T>A
c.2972T>A (p.Ile991Asn)
c.2942T>A (p.Ile981Asn)
c.973T>A (n.973T>A)
c.3242T>A (p.Ile1081Asn)
c.3251T>A (p.Ile1084Asn)
c.2597T>A (p.Ile866Asn)
c.3041T>A (p.Ile1014Asn)
9g.135784840T>CCA375518198KCNT1c.3107T>C (p.Ile1036Thr)
c.2948T>C (p.Ile983Thr)
c.2855T>C (p.Ile952Thr)
c.2864T>C (p.Ile955Thr)
c.3008T>C (p.Ile1003Thr)
c.*2717T>C (n.*2717T>C)
c.2990T>C (p.Ile997Thr)
c.3050T>C (p.Ile1017Thr)
c.3044T>C (p.Ile1015Thr)
n.2926T>C
c.2972T>C (p.Ile991Thr)
c.2942T>C (p.Ile981Thr)
c.973T>C (n.973T>C)
c.3242T>C (p.Ile1081Thr)
c.3251T>C (p.Ile1084Thr)
c.2597T>C (p.Ile866Thr)
c.3041T>C (p.Ile1014Thr)
9g.135784840T>GCA375518199KCNT1c.3107T>G (p.Ile1036Ser)
c.2948T>G (p.Ile983Ser)
c.2855T>G (p.Ile952Ser)
c.2864T>G (p.Ile955Ser)
c.3008T>G (p.Ile1003Ser)
c.*2717T>G (n.*2717T>G)
c.2990T>G (p.Ile997Ser)
c.3050T>G (p.Ile1017Ser)
c.3044T>G (p.Ile1015Ser)
n.2926T>G
c.2972T>G (p.Ile991Ser)
c.2942T>G (p.Ile981Ser)
c.973T>G (n.973T>G)
c.3242T>G (p.Ile1081Ser)
c.3251T>G (p.Ile1084Ser)
c.2597T>G (p.Ile866Ser)
c.3041T>G (p.Ile1014Ser)
9g.135784841C>ACA5327615KCNT1c.3108C>A (p.Ile1036=)
c.2949C>A (p.Ile983=)
c.2856C>A (p.Ile952=)
c.2865C>A (p.Ile955=)
c.3009C>A (p.Ile1003=)
c.*2718C>A (n.*2718C>A)
c.2991C>A (p.Ile997=)
c.3051C>A (p.Ile1017=)
c.3045C>A (p.Ile1015=)
n.2927C>A
c.2973C>A (p.Ile991=)
c.2943C>A (p.Ile981=)
c.974C>A (n.974C>A)
c.3243C>A (p.Ile1081=)
c.3252C>A (p.Ile1084=)
c.2598C>A (p.Ile866=)
c.3042C>A (p.Ile1014=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135784841C=CA1883884424KCNT1c.3108C= (p.Ile1036=)
c.2949C= (p.Ile983=)
c.2856C= (p.Ile952=)
c.2865C= (p.Ile955=)
c.3009C= (p.Ile1003=)
c.*2718C= (n.*2718C=)
c.2991C= (p.Ile997=)
c.3051C= (p.Ile1017=)
c.3045C= (p.Ile1015=)
n.2927C=
c.2973C= (p.Ile991=)
c.2943C= (p.Ile981=)
c.974C= (n.974C=)
c.3243C= (p.Ile1081=)
c.3252C= (p.Ile1084=)
c.2598C= (p.Ile866=)
c.3042C= (p.Ile1014=)
9g.135784841C>GCA375518200KCNT1c.3108C>G (p.Ile1036Met)
c.2949C>G (p.Ile983Met)
c.2856C>G (p.Ile952Met)
c.2865C>G (p.Ile955Met)
c.3009C>G (p.Ile1003Met)
c.*2718C>G (n.*2718C>G)
c.2991C>G (p.Ile997Met)
c.3051C>G (p.Ile1017Met)
c.3045C>G (p.Ile1015Met)
n.2927C>G
c.2973C>G (p.Ile991Met)
c.2943C>G (p.Ile981Met)
c.974C>G (n.974C>G)
c.3243C>G (p.Ile1081Met)
c.3252C>G (p.Ile1084Met)
c.2598C>G (p.Ile866Met)
c.3042C>G (p.Ile1014Met)
9g.135784841C>TCA467821009KCNT1c.3108C>T (p.Ile1036=)
c.2949C>T (p.Ile983=)
c.2856C>T (p.Ile952=)
c.2865C>T (p.Ile955=)
c.3009C>T (p.Ile1003=)
c.*2718C>T (n.*2718C>T)
c.2991C>T (p.Ile997=)
c.3051C>T (p.Ile1017=)
c.3045C>T (p.Ile1015=)
n.2927C>T
c.2973C>T (p.Ile991=)
c.2943C>T (p.Ile981=)
c.974C>T (n.974C>T)
c.3243C>T (p.Ile1081=)
c.3252C>T (p.Ile1084=)
c.2598C>T (p.Ile866=)
c.3042C>T (p.Ile1014=)
 dbSNP
9g.135784842C>ACA375518201KCNT1c.3109C>A (p.Pro1037Thr)
c.2950C>A (p.Pro984Thr)
c.2857C>A (p.Pro953Thr)
c.2866C>A (p.Pro956Thr)
c.3010C>A (p.Pro1004Thr)
c.*2719C>A (n.*2719C>A)
c.2992C>A (p.Pro998Thr)
c.3052C>A (p.Pro1018Thr)
c.3046C>A (p.Pro1016Thr)
n.2928C>A
c.2974C>A (p.Pro992Thr)
c.2944C>A (p.Pro982Thr)
c.975C>A (n.975C>A)
c.3244C>A (p.Pro1082Thr)
c.3253C>A (p.Pro1085Thr)
c.2599C>A (p.Pro867Thr)
c.3043C>A (p.Pro1015Thr)
 dbSNP gnomAD v2 gnomAD v4
9g.135784842C=CA1883884431KCNT1c.3109C= (p.Pro1037=)
c.2950C= (p.Pro984=)
c.2857C= (p.Pro953=)
c.2866C= (p.Pro956=)
c.3010C= (p.Pro1004=)
c.*2719C= (n.*2719C=)
c.2992C= (p.Pro998=)
c.3052C= (p.Pro1018=)
c.3046C= (p.Pro1016=)
n.2928C=
c.2974C= (p.Pro992=)
c.2944C= (p.Pro982=)
c.975C= (n.975C=)
c.3244C= (p.Pro1082=)
c.3253C= (p.Pro1085=)
c.2599C= (p.Pro867=)
c.3043C= (p.Pro1015=)
9g.135784842C>GCA375518202KCNT1c.3109C>G (p.Pro1037Ala)
c.2950C>G (p.Pro984Ala)
c.2857C>G (p.Pro953Ala)
c.2866C>G (p.Pro956Ala)
c.3010C>G (p.Pro1004Ala)
c.*2719C>G (n.*2719C>G)
c.2992C>G (p.Pro998Ala)
c.3052C>G (p.Pro1018Ala)
c.3046C>G (p.Pro1016Ala)
n.2928C>G
c.2974C>G (p.Pro992Ala)
c.2944C>G (p.Pro982Ala)
c.975C>G (n.975C>G)
c.3244C>G (p.Pro1082Ala)
c.3253C>G (p.Pro1085Ala)
c.2599C>G (p.Pro867Ala)
c.3043C>G (p.Pro1015Ala)
9g.135784842C>TCA375518203KCNT1c.3109C>T (p.Pro1037Ser)
c.2950C>T (p.Pro984Ser)
c.2857C>T (p.Pro953Ser)
c.2866C>T (p.Pro956Ser)
c.3010C>T (p.Pro1004Ser)
c.*2719C>T (n.*2719C>T)
c.2992C>T (p.Pro998Ser)
c.3052C>T (p.Pro1018Ser)
c.3046C>T (p.Pro1016Ser)
n.2928C>T
c.2974C>T (p.Pro992Ser)
c.2944C>T (p.Pro982Ser)
c.975C>T (n.975C>T)
c.3244C>T (p.Pro1082Ser)
c.3253C>T (p.Pro1085Ser)
c.2599C>T (p.Pro867Ser)
c.3043C>T (p.Pro1015Ser)
 gnomAD v4
9g.135784843C>ACA375518204KCNT1c.3110C>A (p.Pro1037His)
c.2951C>A (p.Pro984His)
c.2858C>A (p.Pro953His)
c.2867C>A (p.Pro956His)
c.3011C>A (p.Pro1004His)
c.*2720C>A (n.*2720C>A)
c.2993C>A (p.Pro998His)
c.3053C>A (p.Pro1018His)
c.3047C>A (p.Pro1016His)
n.2929C>A
c.2975C>A (p.Pro992His)
c.2945C>A (p.Pro982His)
c.976C>A (n.976C>A)
c.3245C>A (p.Pro1082His)
c.3254C>A (p.Pro1085His)
c.2600C>A (p.Pro867His)
c.3044C>A (p.Pro1015His)
9g.135784843C>GCA375518205KCNT1c.3110C>G (p.Pro1037Arg)
c.2951C>G (p.Pro984Arg)
c.2858C>G (p.Pro953Arg)
c.2867C>G (p.Pro956Arg)
c.3011C>G (p.Pro1004Arg)
c.*2720C>G (n.*2720C>G)
c.2993C>G (p.Pro998Arg)
c.3053C>G (p.Pro1018Arg)
c.3047C>G (p.Pro1016Arg)
n.2929C>G
c.2975C>G (p.Pro992Arg)
c.2945C>G (p.Pro982Arg)
c.976C>G (n.976C>G)
c.3245C>G (p.Pro1082Arg)
c.3254C>G (p.Pro1085Arg)
c.2600C>G (p.Pro867Arg)
c.3044C>G (p.Pro1015Arg)
9g.135784843C>TCA375518206KCNT1c.3110C>T (p.Pro1037Leu)
c.2951C>T (p.Pro984Leu)
c.2858C>T (p.Pro953Leu)
c.2867C>T (p.Pro956Leu)
c.3011C>T (p.Pro1004Leu)
c.*2720C>T (n.*2720C>T)
c.2993C>T (p.Pro998Leu)
c.3053C>T (p.Pro1018Leu)
c.3047C>T (p.Pro1016Leu)
n.2929C>T
c.2975C>T (p.Pro992Leu)
c.2945C>T (p.Pro982Leu)
c.976C>T (n.976C>T)
c.3245C>T (p.Pro1082Leu)
c.3254C>T (p.Pro1085Leu)
c.2600C>T (p.Pro867Leu)
c.3044C>T (p.Pro1015Leu)
 gnomAD v4
9g.135784844C>ACA467821011KCNT1c.3111C>A (p.Pro1037=)
c.2952C>A (p.Pro984=)
c.2859C>A (p.Pro953=)
c.2868C>A (p.Pro956=)
c.3012C>A (p.Pro1004=)
c.*2721C>A (n.*2721C>A)
c.2994C>A (p.Pro998=)
c.3054C>A (p.Pro1018=)
c.3048C>A (p.Pro1016=)
n.2930C>A
c.2976C>A (p.Pro992=)
c.2946C>A (p.Pro982=)
c.977C>A (n.977C>A)
c.3246C>A (p.Pro1082=)
c.3255C>A (p.Pro1085=)
c.2601C>A (p.Pro867=)
c.3045C>A (p.Pro1015=)
9g.135784844C=CA1883884435KCNT1c.3111C= (p.Pro1037=)
c.2952C= (p.Pro984=)
c.2859C= (p.Pro953=)
c.2868C= (p.Pro956=)
c.3012C= (p.Pro1004=)
c.*2721C= (n.*2721C=)
c.2994C= (p.Pro998=)
c.3054C= (p.Pro1018=)
c.3048C= (p.Pro1016=)
n.2930C=
c.2976C= (p.Pro992=)
c.2946C= (p.Pro982=)
c.977C= (n.977C=)
c.3246C= (p.Pro1082=)
c.3255C= (p.Pro1085=)
c.2601C= (p.Pro867=)
c.3045C= (p.Pro1015=)
9g.135784844C>GCA467821010KCNT1c.3111C>G (p.Pro1037=)
c.2952C>G (p.Pro984=)
c.2859C>G (p.Pro953=)
c.2868C>G (p.Pro956=)
c.3012C>G (p.Pro1004=)
c.*2721C>G (n.*2721C>G)
c.2994C>G (p.Pro998=)
c.3054C>G (p.Pro1018=)
c.3048C>G (p.Pro1016=)
n.2930C>G
c.2976C>G (p.Pro992=)
c.2946C>G (p.Pro982=)
c.977C>G (n.977C>G)
c.3246C>G (p.Pro1082=)
c.3255C>G (p.Pro1085=)
c.2601C>G (p.Pro867=)
c.3045C>G (p.Pro1015=)
9g.135784844C>TCA5327616KCNT1c.3111C>T (p.Pro1037=)
c.2952C>T (p.Pro984=)
c.2859C>T (p.Pro953=)
c.2868C>T (p.Pro956=)
c.3012C>T (p.Pro1004=)
c.*2721C>T (n.*2721C>T)
c.2994C>T (p.Pro998=)
c.3054C>T (p.Pro1018=)
c.3048C>T (p.Pro1016=)
n.2930C>T
c.2976C>T (p.Pro992=)
c.2946C>T (p.Pro982=)
c.977C>T (n.977C>T)
c.3246C>T (p.Pro1082=)
c.3255C>T (p.Pro1085=)
c.2601C>T (p.Pro867=)
c.3045C>T (p.Pro1015=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135784845A>CCA375518210KCNT1c.3112A>C (p.Ile1038Leu)
c.2953A>C (p.Ile985Leu)
c.2860A>C (p.Ile954Leu)
c.2869A>C (p.Ile957Leu)
c.3013A>C (p.Ile1005Leu)
c.*2722A>C (n.*2722A>C)
c.2995A>C (p.Ile999Leu)
c.3055A>C (p.Ile1019Leu)
c.3049A>C (p.Ile1017Leu)
n.2931A>C
c.2977A>C (p.Ile993Leu)
c.2947A>C (p.Ile983Leu)
c.978A>C (n.978A>C)
c.3247A>C (p.Ile1083Leu)
c.3256A>C (p.Ile1086Leu)
c.2602A>C (p.Ile868Leu)
c.3046A>C (p.Ile1016Leu)
9g.135784845A>GCA375518208KCNT1c.3112A>G (p.Ile1038Val)
c.2953A>G (p.Ile985Val)
c.2860A>G (p.Ile954Val)
c.2869A>G (p.Ile957Val)
c.3013A>G (p.Ile1005Val)
c.*2722A>G (n.*2722A>G)
c.2995A>G (p.Ile999Val)
c.3055A>G (p.Ile1019Val)
c.3049A>G (p.Ile1017Val)
n.2931A>G
c.2977A>G (p.Ile993Val)
c.2947A>G (p.Ile983Val)
c.978A>G (n.978A>G)
c.3247A>G (p.Ile1083Val)
c.3256A>G (p.Ile1086Val)
c.2602A>G (p.Ile868Val)
c.3046A>G (p.Ile1016Val)
 ClinVar gnomAD v4
9g.135784845A>TCA375518207KCNT1c.3112A>T (p.Ile1038Phe)
c.2953A>T (p.Ile985Phe)
c.2860A>T (p.Ile954Phe)
c.2869A>T (p.Ile957Phe)
c.3013A>T (p.Ile1005Phe)
c.*2722A>T (n.*2722A>T)
c.2995A>T (p.Ile999Phe)
c.3055A>T (p.Ile1019Phe)
c.3049A>T (p.Ile1017Phe)
n.2931A>T
c.2977A>T (p.Ile993Phe)
c.2947A>T (p.Ile983Phe)
c.978A>T (n.978A>T)
c.3247A>T (p.Ile1083Phe)
c.3256A>T (p.Ile1086Phe)
c.2602A>T (p.Ile868Phe)
c.3046A>T (p.Ile1016Phe)
9g.135784846T>ACA375518211KCNT1c.3113T>A (p.Ile1038Asn)
c.2954T>A (p.Ile985Asn)
c.2861T>A (p.Ile954Asn)
c.2870T>A (p.Ile957Asn)
c.3014T>A (p.Ile1005Asn)
c.*2723T>A (n.*2723T>A)
c.2996T>A (p.Ile999Asn)
c.3056T>A (p.Ile1019Asn)
c.3050T>A (p.Ile1017Asn)
n.2932T>A
c.2978T>A (p.Ile993Asn)
c.2948T>A (p.Ile983Asn)
c.979T>A (n.979T>A)
c.3248T>A (p.Ile1083Asn)
c.3257T>A (p.Ile1086Asn)
c.2603T>A (p.Ile868Asn)
c.3047T>A (p.Ile1016Asn)
9g.135784846T>CCA375518212KCNT1c.3113T>C (p.Ile1038Thr)
c.2954T>C (p.Ile985Thr)
c.2861T>C (p.Ile954Thr)
c.2870T>C (p.Ile957Thr)
c.3014T>C (p.Ile1005Thr)
c.*2723T>C (n.*2723T>C)
c.2996T>C (p.Ile999Thr)
c.3056T>C (p.Ile1019Thr)
c.3050T>C (p.Ile1017Thr)
n.2932T>C
c.2978T>C (p.Ile993Thr)
c.2948T>C (p.Ile983Thr)
c.979T>C (n.979T>C)
c.3248T>C (p.Ile1083Thr)
c.3257T>C (p.Ile1086Thr)
c.2603T>C (p.Ile868Thr)
c.3047T>C (p.Ile1016Thr)
 dbSNP gnomAD v2
9g.135784846T>GCA375518213KCNT1c.3113T>G (p.Ile1038Ser)
c.2954T>G (p.Ile985Ser)
c.2861T>G (p.Ile954Ser)
c.2870T>G (p.Ile957Ser)
c.3014T>G (p.Ile1005Ser)
c.*2723T>G (n.*2723T>G)
c.2996T>G (p.Ile999Ser)
c.3056T>G (p.Ile1019Ser)
c.3050T>G (p.Ile1017Ser)
n.2932T>G
c.2978T>G (p.Ile993Ser)
c.2948T>G (p.Ile983Ser)
c.979T>G (n.979T>G)
c.3248T>G (p.Ile1083Ser)
c.3257T>G (p.Ile1086Ser)
c.2603T>G (p.Ile868Ser)
c.3047T>G (p.Ile1016Ser)
9g.135784846T=CA1883884441KCNT1c.3113T= (p.Ile1038=)
c.2954T= (p.Ile985=)
c.2861T= (p.Ile954=)
c.2870T= (p.Ile957=)
c.3014T= (p.Ile1005=)
c.*2723T= (n.*2723T=)
c.2996T= (p.Ile999=)
c.3056T= (p.Ile1019=)
c.3050T= (p.Ile1017=)
n.2932T=
c.2978T= (p.Ile993=)
c.2948T= (p.Ile983=)
c.979T= (n.979T=)
c.3248T= (p.Ile1083=)
c.3257T= (p.Ile1086=)
c.2603T= (p.Ile868=)
c.3047T= (p.Ile1016=)
9g.135784847T>ACA467821014KCNT1c.3114T>A (p.Ile1038=)
c.2955T>A (p.Ile985=)
c.2862T>A (p.Ile954=)
c.2871T>A (p.Ile957=)
c.3015T>A (p.Ile1005=)
c.*2724T>A (n.*2724T>A)
c.2997T>A (p.Ile999=)
c.3057T>A (p.Ile1019=)
c.3051T>A (p.Ile1017=)
n.2933T>A
c.2979T>A (p.Ile993=)
c.2949T>A (p.Ile983=)
c.980T>A (n.980T>A)
c.3249T>A (p.Ile1083=)
c.3258T>A (p.Ile1086=)
c.2604T>A (p.Ile868=)
c.3048T>A (p.Ile1016=)
9g.135784847T>CCA467821013KCNT1c.3114T>C (p.Ile1038=)
c.2955T>C (p.Ile985=)
c.2862T>C (p.Ile954=)
c.2871T>C (p.Ile957=)
c.3015T>C (p.Ile1005=)
c.*2724T>C (n.*2724T>C)
c.2997T>C (p.Ile999=)
c.3057T>C (p.Ile1019=)
c.3051T>C (p.Ile1017=)
n.2933T>C
c.2979T>C (p.Ile993=)
c.2949T>C (p.Ile983=)
c.980T>C (n.980T>C)
c.3249T>C (p.Ile1083=)
c.3258T>C (p.Ile1086=)
c.2604T>C (p.Ile868=)
c.3048T>C (p.Ile1016=)
9g.135784847T>GCA375518214KCNT1c.3114T>G (p.Ile1038Met)
c.2955T>G (p.Ile985Met)
c.2862T>G (p.Ile954Met)
c.2871T>G (p.Ile957Met)
c.3015T>G (p.Ile1005Met)
c.*2724T>G (n.*2724T>G)
c.2997T>G (p.Ile999Met)
c.3057T>G (p.Ile1019Met)
c.3051T>G (p.Ile1017Met)
n.2933T>G
c.2979T>G (p.Ile993Met)
c.2949T>G (p.Ile983Met)
c.980T>G (n.980T>G)
c.3249T>G (p.Ile1083Met)
c.3258T>G (p.Ile1086Met)
c.2604T>G (p.Ile868Met)
c.3048T>G (p.Ile1016Met)
9g.135784848G>ACA375518215KCNT1c.3115G>A (p.Gly1039Ser)
c.2956G>A (p.Gly986Ser)
c.2863G>A (p.Gly955Ser)
c.2872G>A (p.Gly958Ser)
c.3016G>A (p.Gly1006Ser)
c.*2725G>A (n.*2725G>A)
c.2998G>A (p.Gly1000Ser)
c.3058G>A (p.Gly1020Ser)
c.3052G>A (p.Gly1018Ser)
n.2934G>A
c.2980G>A (p.Gly994Ser)
c.2950G>A (p.Gly984Ser)
c.981G>A (n.981G>A)
c.3250G>A (p.Gly1084Ser)
c.3259G>A (p.Gly1087Ser)
c.2605G>A (p.Gly869Ser)
c.3049G>A (p.Gly1017Ser)
9g.135784848G>CCA375518216KCNT1c.3115G>C (p.Gly1039Arg)
c.2956G>C (p.Gly986Arg)
c.2863G>C (p.Gly955Arg)
c.2872G>C (p.Gly958Arg)
c.3016G>C (p.Gly1006Arg)
c.*2725G>C (n.*2725G>C)
c.2998G>C (p.Gly1000Arg)
c.3058G>C (p.Gly1020Arg)
c.3052G>C (p.Gly1018Arg)
n.2934G>C
c.2980G>C (p.Gly994Arg)
c.2950G>C (p.Gly984Arg)
c.981G>C (n.981G>C)
c.3250G>C (p.Gly1084Arg)
c.3259G>C (p.Gly1087Arg)
c.2605G>C (p.Gly869Arg)
c.3049G>C (p.Gly1017Arg)
 gnomAD v4
9g.135784848G>TCA375518217KCNT1c.3115G>T (p.Gly1039Cys)
c.2956G>T (p.Gly986Cys)
c.2863G>T (p.Gly955Cys)
c.2872G>T (p.Gly958Cys)
c.3016G>T (p.Gly1006Cys)
c.*2725G>T (n.*2725G>T)
c.2998G>T (p.Gly1000Cys)
c.3058G>T (p.Gly1020Cys)
c.3052G>T (p.Gly1018Cys)
n.2934G>T
c.2980G>T (p.Gly994Cys)
c.2950G>T (p.Gly984Cys)
c.981G>T (n.981G>T)
c.3250G>T (p.Gly1084Cys)
c.3259G>T (p.Gly1087Cys)
c.2605G>T (p.Gly869Cys)
c.3049G>T (p.Gly1017Cys)
 gnomAD v4
9g.135784849G>ACA375518218KCNT1c.3116G>A (p.Gly1039Asp)
c.2957G>A (p.Gly986Asp)
c.2864G>A (p.Gly955Asp)
c.2873G>A (p.Gly958Asp)
c.3017G>A (p.Gly1006Asp)
c.*2726G>A (n.*2726G>A)
c.2999G>A (p.Gly1000Asp)
c.3059G>A (p.Gly1020Asp)
c.3053G>A (p.Gly1018Asp)
n.2935G>A
c.2981G>A (p.Gly994Asp)
c.2951G>A (p.Gly984Asp)
c.982G>A (n.982G>A)
c.3251G>A (p.Gly1084Asp)
c.3260G>A (p.Gly1087Asp)
c.2606G>A (p.Gly869Asp)
c.3050G>A (p.Gly1017Asp)
 gnomAD v4
9g.135784849G>CCA375518219KCNT1c.3116G>C (p.Gly1039Ala)
c.2957G>C (p.Gly986Ala)
c.2864G>C (p.Gly955Ala)
c.2873G>C (p.Gly958Ala)
c.3017G>C (p.Gly1006Ala)
c.*2726G>C (n.*2726G>C)
c.2999G>C (p.Gly1000Ala)
c.3059G>C (p.Gly1020Ala)
c.3053G>C (p.Gly1018Ala)
n.2935G>C
c.2981G>C (p.Gly994Ala)
c.2951G>C (p.Gly984Ala)
c.982G>C (n.982G>C)
c.3251G>C (p.Gly1084Ala)
c.3260G>C (p.Gly1087Ala)
c.2606G>C (p.Gly869Ala)
c.3050G>C (p.Gly1017Ala)
9g.135784849G=CA1883884445KCNT1c.3116G= (p.Gly1039=)
c.2957G= (p.Gly986=)
c.2864G= (p.Gly955=)
c.2873G= (p.Gly958=)
c.3017G= (p.Gly1006=)
c.*2726G= (n.*2726G=)
c.2999G= (p.Gly1000=)
c.3059G= (p.Gly1020=)
c.3053G= (p.Gly1018=)
n.2935G=
c.2981G= (p.Gly994=)
c.2951G= (p.Gly984=)
c.982G= (n.982G=)
c.3251G= (p.Gly1084=)
c.3260G= (p.Gly1087=)
c.2606G= (p.Gly869=)
c.3050G= (p.Gly1017=)
9g.135784849G>TCA375518220KCNT1c.3116G>T (p.Gly1039Val)
c.2957G>T (p.Gly986Val)
c.2864G>T (p.Gly955Val)
c.2873G>T (p.Gly958Val)
c.3017G>T (p.Gly1006Val)
c.*2726G>T (n.*2726G>T)
c.2999G>T (p.Gly1000Val)
c.3059G>T (p.Gly1020Val)
c.3053G>T (p.Gly1018Val)
n.2935G>T
c.2981G>T (p.Gly994Val)
c.2951G>T (p.Gly984Val)
c.982G>T (n.982G>T)
c.3251G>T (p.Gly1084Val)
c.3260G>T (p.Gly1087Val)
c.2606G>T (p.Gly869Val)
c.3050G>T (p.Gly1017Val)
 dbSNP
9g.135784850C>ACA467821016KCNT1c.3117C>A (p.Gly1039=)
c.2958C>A (p.Gly986=)
c.2865C>A (p.Gly955=)
c.2874C>A (p.Gly958=)
c.3018C>A (p.Gly1006=)
c.*2727C>A (n.*2727C>A)
c.3000C>A (p.Gly1000=)
c.3060C>A (p.Gly1020=)
c.3054C>A (p.Gly1018=)
n.2936C>A
c.2982C>A (p.Gly994=)
c.2952C>A (p.Gly984=)
c.983C>A (n.983C>A)
c.3252C>A (p.Gly1084=)
c.3261C>A (p.Gly1087=)
c.2607C>A (p.Gly869=)
c.3051C>A (p.Gly1017=)
9g.135784850C>GCA467821017KCNT1c.3117C>G (p.Gly1039=)
c.2958C>G (p.Gly986=)
c.2865C>G (p.Gly955=)
c.2874C>G (p.Gly958=)
c.3018C>G (p.Gly1006=)
c.*2727C>G (n.*2727C>G)
c.3000C>G (p.Gly1000=)
c.3060C>G (p.Gly1020=)
c.3054C>G (p.Gly1018=)
n.2936C>G
c.2982C>G (p.Gly994=)
c.2952C>G (p.Gly984=)
c.983C>G (n.983C>G)
c.3252C>G (p.Gly1084=)
c.3261C>G (p.Gly1087=)
c.2607C>G (p.Gly869=)
c.3051C>G (p.Gly1017=)
9g.135784850C>TCA467821018KCNT1c.3117C>T (p.Gly1039=)
c.2958C>T (p.Gly986=)
c.2865C>T (p.Gly955=)
c.2874C>T (p.Gly958=)
c.3018C>T (p.Gly1006=)
c.*2727C>T (n.*2727C>T)
c.3000C>T (p.Gly1000=)
c.3060C>T (p.Gly1020=)
c.3054C>T (p.Gly1018=)
n.2936C>T
c.2982C>T (p.Gly994=)
c.2952C>T (p.Gly984=)
c.983C>T (n.983C>T)
c.3252C>T (p.Gly1084=)
c.3261C>T (p.Gly1087=)
c.2607C>T (p.Gly869=)
c.3051C>T (p.Gly1017=)
 gnomAD v4
9g.135784851A=CA1883884451KCNT1c.3118A= (p.Ile1040=)
c.2959A= (p.Ile987=)
c.2866A= (p.Ile956=)
c.2875A= (p.Ile959=)
c.3019A= (p.Ile1007=)
c.*2728A= (n.*2728A=)
c.3001A= (p.Ile1001=)
c.3061A= (p.Ile1021=)
c.3055A= (p.Ile1019=)
n.2937A=
c.2983A= (p.Ile995=)
c.2953A= (p.Ile985=)
c.984A= (n.984A=)
c.3253A= (p.Ile1085=)
c.3262A= (p.Ile1088=)
c.2608A= (p.Ile870=)
c.3052A= (p.Ile1018=)
9g.135784851A>CCA375518221KCNT1c.3118A>C (p.Ile1040Leu)
c.2959A>C (p.Ile987Leu)
c.2866A>C (p.Ile956Leu)
c.2875A>C (p.Ile959Leu)
c.3019A>C (p.Ile1007Leu)
c.*2728A>C (n.*2728A>C)
c.3001A>C (p.Ile1001Leu)
c.3061A>C (p.Ile1021Leu)
c.3055A>C (p.Ile1019Leu)
n.2937A>C
c.2983A>C (p.Ile995Leu)
c.2953A>C (p.Ile985Leu)
c.984A>C (n.984A>C)
c.3253A>C (p.Ile1085Leu)
c.3262A>C (p.Ile1088Leu)
c.2608A>C (p.Ile870Leu)
c.3052A>C (p.Ile1018Leu)
9g.135784851A>GCA375518222KCNT1c.3118A>G (p.Ile1040Val)
c.2959A>G (p.Ile987Val)
c.2866A>G (p.Ile956Val)
c.2875A>G (p.Ile959Val)
c.3019A>G (p.Ile1007Val)
c.*2728A>G (n.*2728A>G)
c.3001A>G (p.Ile1001Val)
c.3061A>G (p.Ile1021Val)
c.3055A>G (p.Ile1019Val)
n.2937A>G
c.2983A>G (p.Ile995Val)
c.2953A>G (p.Ile985Val)
c.984A>G (n.984A>G)
c.3253A>G (p.Ile1085Val)
c.3262A>G (p.Ile1088Val)
c.2608A>G (p.Ile870Val)
c.3052A>G (p.Ile1018Val)
9g.135784851A>TCA5327617KCNT1c.3118A>T (p.Ile1040Phe)
c.2959A>T (p.Ile987Phe)
c.2866A>T (p.Ile956Phe)
c.2875A>T (p.Ile959Phe)
c.3019A>T (p.Ile1007Phe)
c.*2728A>T (n.*2728A>T)
c.3001A>T (p.Ile1001Phe)
c.3061A>T (p.Ile1021Phe)
c.3055A>T (p.Ile1019Phe)
n.2937A>T
c.2983A>T (p.Ile995Phe)
c.2953A>T (p.Ile985Phe)
c.984A>T (n.984A>T)
c.3253A>T (p.Ile1085Phe)
c.3262A>T (p.Ile1088Phe)
c.2608A>T (p.Ile870Phe)
c.3052A>T (p.Ile1018Phe)
 dbSNP ExAC gnomAD v2
9g.135784852T>ACA375518224KCNT1c.3119T>A (p.Ile1040Asn)
c.2960T>A (p.Ile987Asn)
c.2867T>A (p.Ile956Asn)
c.2876T>A (p.Ile959Asn)
c.3020T>A (p.Ile1007Asn)
c.*2729T>A (n.*2729T>A)
c.3002T>A (p.Ile1001Asn)
c.3062T>A (p.Ile1021Asn)
c.3056T>A (p.Ile1019Asn)
n.2938T>A
c.2984T>A (p.Ile995Asn)
c.2954T>A (p.Ile985Asn)
c.985T>A (n.985T>A)
c.3254T>A (p.Ile1085Asn)
c.3263T>A (p.Ile1088Asn)
c.2609T>A (p.Ile870Asn)
c.3053T>A (p.Ile1018Asn)
9g.135784852T>CCA375518225KCNT1c.3119T>C (p.Ile1040Thr)
c.2960T>C (p.Ile987Thr)
c.2867T>C (p.Ile956Thr)
c.2876T>C (p.Ile959Thr)
c.3020T>C (p.Ile1007Thr)
c.*2729T>C (n.*2729T>C)
c.3002T>C (p.Ile1001Thr)
c.3062T>C (p.Ile1021Thr)
c.3056T>C (p.Ile1019Thr)
n.2938T>C
c.2984T>C (p.Ile995Thr)
c.2954T>C (p.Ile985Thr)
c.985T>C (n.985T>C)
c.3254T>C (p.Ile1085Thr)
c.3263T>C (p.Ile1088Thr)
c.2609T>C (p.Ile870Thr)
c.3053T>C (p.Ile1018Thr)
 ClinVar
9g.135784852T>GCA375518223KCNT1c.3119T>G (p.Ile1040Ser)
c.2960T>G (p.Ile987Ser)
c.2867T>G (p.Ile956Ser)
c.2876T>G (p.Ile959Ser)
c.3020T>G (p.Ile1007Ser)
c.*2729T>G (n.*2729T>G)
c.3002T>G (p.Ile1001Ser)
c.3062T>G (p.Ile1021Ser)
c.3056T>G (p.Ile1019Ser)
n.2938T>G
c.2984T>G (p.Ile995Ser)
c.2954T>G (p.Ile985Ser)
c.985T>G (n.985T>G)
c.3254T>G (p.Ile1085Ser)
c.3263T>G (p.Ile1088Ser)
c.2609T>G (p.Ile870Ser)
c.3053T>G (p.Ile1018Ser)
9g.135784853C>ACA467821020KCNT1c.3120C>A (p.Ile1040=)
c.2961C>A (p.Ile987=)
c.2868C>A (p.Ile956=)
c.2877C>A (p.Ile959=)
c.3021C>A (p.Ile1007=)
c.*2730C>A (n.*2730C>A)
c.3003C>A (p.Ile1001=)
c.3063C>A (p.Ile1021=)
c.3057C>A (p.Ile1019=)
n.2939C>A
c.2985C>A (p.Ile995=)
c.2955C>A (p.Ile985=)
c.986C>A (n.986C>A)
c.3255C>A (p.Ile1085=)
c.3264C>A (p.Ile1088=)
c.2610C>A (p.Ile870=)
c.3054C>A (p.Ile1018=)
9g.135784853C=CA1883884460KCNT1c.3120C= (p.Ile1040=)
c.2961C= (p.Ile987=)
c.2868C= (p.Ile956=)
c.2877C= (p.Ile959=)
c.3021C= (p.Ile1007=)
c.*2730C= (n.*2730C=)
c.3003C= (p.Ile1001=)
c.3063C= (p.Ile1021=)
c.3057C= (p.Ile1019=)
n.2939C=
c.2985C= (p.Ile995=)
c.2955C= (p.Ile985=)
c.986C= (n.986C=)
c.3255C= (p.Ile1085=)
c.3264C= (p.Ile1088=)
c.2610C= (p.Ile870=)
c.3054C= (p.Ile1018=)
9g.135784853C>GCA375518226KCNT1c.3120C>G (p.Ile1040Met)
c.2961C>G (p.Ile987Met)
c.2868C>G (p.Ile956Met)
c.2877C>G (p.Ile959Met)
c.3021C>G (p.Ile1007Met)
c.*2730C>G (n.*2730C>G)
c.3003C>G (p.Ile1001Met)
c.3063C>G (p.Ile1021Met)
c.3057C>G (p.Ile1019Met)
n.2939C>G
c.2985C>G (p.Ile995Met)
c.2955C>G (p.Ile985Met)
c.986C>G (n.986C>G)
c.3255C>G (p.Ile1085Met)
c.3264C>G (p.Ile1088Met)
c.2610C>G (p.Ile870Met)
c.3054C>G (p.Ile1018Met)
9g.135784853C>TCA201483786KCNT1c.3120C>T (p.Ile1040=)
c.2961C>T (p.Ile987=)
c.2868C>T (p.Ile956=)
c.2877C>T (p.Ile959=)
c.3021C>T (p.Ile1007=)
c.*2730C>T (n.*2730C>T)
c.3003C>T (p.Ile1001=)
c.3063C>T (p.Ile1021=)
c.3057C>T (p.Ile1019=)
n.2939C>T
c.2985C>T (p.Ile995=)
c.2955C>T (p.Ile985=)
c.986C>T (n.986C>T)
c.3255C>T (p.Ile1085=)
c.3264C>T (p.Ile1088=)
c.2610C>T (p.Ile870=)
c.3054C>T (p.Ile1018=)
 ClinVar dbSNP
9g.135784854T>ACA375518228KCNT1c.3121T>A (p.Tyr1041Asn)
c.2962T>A (p.Tyr988Asn)
c.2869T>A (p.Tyr957Asn)
c.2878T>A (p.Tyr960Asn)
c.3022T>A (p.Tyr1008Asn)
c.*2731T>A (n.*2731T>A)
c.3004T>A (p.Tyr1002Asn)
c.3064T>A (p.Tyr1022Asn)
c.3058T>A (p.Tyr1020Asn)
n.2940T>A
c.2986T>A (p.Tyr996Asn)
c.2956T>A (p.Tyr986Asn)
c.987T>A (n.987T>A)
c.3256T>A (p.Tyr1086Asn)
c.3265T>A (p.Tyr1089Asn)
c.2611T>A (p.Tyr871Asn)
c.3055T>A (p.Tyr1019Asn)
9g.135784854T>CCA375518227KCNT1c.3121T>C (p.Tyr1041His)
c.2962T>C (p.Tyr988His)
c.2869T>C (p.Tyr957His)
c.2878T>C (p.Tyr960His)
c.3022T>C (p.Tyr1008His)
c.*2731T>C (n.*2731T>C)
c.3004T>C (p.Tyr1002His)
c.3064T>C (p.Tyr1022His)
c.3058T>C (p.Tyr1020His)
n.2940T>C
c.2986T>C (p.Tyr996His)
c.2956T>C (p.Tyr986His)
c.987T>C (n.987T>C)
c.3256T>C (p.Tyr1086His)
c.3265T>C (p.Tyr1089His)
c.2611T>C (p.Tyr871His)
c.3055T>C (p.Tyr1019His)
9g.135784854T>GCA375518229KCNT1c.3121T>G (p.Tyr1041Asp)
c.2962T>G (p.Tyr988Asp)
c.2869T>G (p.Tyr957Asp)
c.2878T>G (p.Tyr960Asp)
c.3022T>G (p.Tyr1008Asp)
c.*2731T>G (n.*2731T>G)
c.3004T>G (p.Tyr1002Asp)
c.3064T>G (p.Tyr1022Asp)
c.3058T>G (p.Tyr1020Asp)
n.2940T>G
c.2986T>G (p.Tyr996Asp)
c.2956T>G (p.Tyr986Asp)
c.987T>G (n.987T>G)
c.3256T>G (p.Tyr1086Asp)
c.3265T>G (p.Tyr1089Asp)
c.2611T>G (p.Tyr871Asp)
c.3055T>G (p.Tyr1019Asp)
9g.135784855A>CCA375518230KCNT1c.3122A>C (p.Tyr1041Ser)
c.2963A>C (p.Tyr988Ser)
c.2870A>C (p.Tyr957Ser)
c.2879A>C (p.Tyr960Ser)
c.3023A>C (p.Tyr1008Ser)
c.*2732A>C (n.*2732A>C)
c.3005A>C (p.Tyr1002Ser)
c.3065A>C (p.Tyr1022Ser)
c.3059A>C (p.Tyr1020Ser)
n.2941A>C
c.2987A>C (p.Tyr996Ser)
c.2957A>C (p.Tyr986Ser)
c.988A>C (n.988A>C)
c.3257A>C (p.Tyr1086Ser)
c.3266A>C (p.Tyr1089Ser)
c.2612A>C (p.Tyr871Ser)
c.3056A>C (p.Tyr1019Ser)
9g.135784855A>GCA375518232KCNT1c.3122A>G (p.Tyr1041Cys)
c.2963A>G (p.Tyr988Cys)
c.2870A>G (p.Tyr957Cys)
c.2879A>G (p.Tyr960Cys)
c.3023A>G (p.Tyr1008Cys)
c.*2732A>G (n.*2732A>G)
c.3005A>G (p.Tyr1002Cys)
c.3065A>G (p.Tyr1022Cys)
c.3059A>G (p.Tyr1020Cys)
n.2941A>G
c.2987A>G (p.Tyr996Cys)
c.2957A>G (p.Tyr986Cys)
c.988A>G (n.988A>G)
c.3257A>G (p.Tyr1086Cys)
c.3266A>G (p.Tyr1089Cys)
c.2612A>G (p.Tyr871Cys)
c.3056A>G (p.Tyr1019Cys)
 ClinVar gnomAD v4
9g.135784855A>TCA375518231KCNT1c.3122A>T (p.Tyr1041Phe)
c.2963A>T (p.Tyr988Phe)
c.2870A>T (p.Tyr957Phe)
c.2879A>T (p.Tyr960Phe)
c.3023A>T (p.Tyr1008Phe)
c.*2732A>T (n.*2732A>T)
c.3005A>T (p.Tyr1002Phe)
c.3065A>T (p.Tyr1022Phe)
c.3059A>T (p.Tyr1020Phe)
n.2941A>T
c.2987A>T (p.Tyr996Phe)
c.2957A>T (p.Tyr986Phe)
c.988A>T (n.988A>T)
c.3257A>T (p.Tyr1086Phe)
c.3266A>T (p.Tyr1089Phe)
c.2612A>T (p.Tyr871Phe)
c.3056A>T (p.Tyr1019Phe)
9g.135784856C>ACA375518233KCNT1c.3123C>A (p.Tyr1041Ter)
c.2964C>A (p.Tyr988Ter)
c.2871C>A (p.Tyr957Ter)
c.2880C>A (p.Tyr960Ter)
c.3024C>A (p.Tyr1008Ter)
c.*2733C>A (n.*2733C>A)
c.3006C>A (p.Tyr1002Ter)
c.3066C>A (p.Tyr1022Ter)
c.3060C>A (p.Tyr1020Ter)
n.2942C>A
c.2988C>A (p.Tyr996Ter)
c.2958C>A (p.Tyr986Ter)
c.989C>A (n.989C>A)
c.3258C>A (p.Tyr1086Ter)
c.3267C>A (p.Tyr1089Ter)
c.2613C>A (p.Tyr871Ter)
c.3057C>A (p.Tyr1019Ter)
9g.135784856C>GCA375518234KCNT1c.3123C>G (p.Tyr1041Ter)
c.2964C>G (p.Tyr988Ter)
c.2871C>G (p.Tyr957Ter)
c.2880C>G (p.Tyr960Ter)
c.3024C>G (p.Tyr1008Ter)
c.*2733C>G (n.*2733C>G)
c.3006C>G (p.Tyr1002Ter)
c.3066C>G (p.Tyr1022Ter)
c.3060C>G (p.Tyr1020Ter)
n.2942C>G
c.2988C>G (p.Tyr996Ter)
c.2958C>G (p.Tyr986Ter)
c.989C>G (n.989C>G)
c.3258C>G (p.Tyr1086Ter)
c.3267C>G (p.Tyr1089Ter)
c.2613C>G (p.Tyr871Ter)
c.3057C>G (p.Tyr1019Ter)
9g.135784856C>TCA467821023KCNT1c.3123C>T (p.Tyr1041=)
c.2964C>T (p.Tyr988=)
c.2871C>T (p.Tyr957=)
c.2880C>T (p.Tyr960=)
c.3024C>T (p.Tyr1008=)
c.*2733C>T (n.*2733C>T)
c.3006C>T (p.Tyr1002=)
c.3066C>T (p.Tyr1022=)
c.3060C>T (p.Tyr1020=)
n.2942C>T
c.2988C>T (p.Tyr996=)
c.2958C>T (p.Tyr986=)
c.989C>T (n.989C>T)
c.3258C>T (p.Tyr1086=)
c.3267C>T (p.Tyr1089=)
c.2613C>T (p.Tyr871=)
c.3057C>T (p.Tyr1019=)
9g.135784857C>ACA467821024KCNT1c.3124C>A (p.Arg1042=)
c.2965C>A (p.Arg989=)
c.2872C>A (p.Arg958=)
c.2881C>A (p.Arg961=)
c.3025C>A (p.Arg1009=)
c.*2734C>A (n.*2734C>A)
c.3007C>A (p.Arg1003=)
c.3067C>A (p.Arg1023=)
c.3061C>A (p.Arg1021=)
n.2943C>A
c.2989C>A (p.Arg997=)
c.2959C>A (p.Arg987=)
c.990C>A (n.990C>A)
c.3259C>A (p.Arg1087=)
c.3268C>A (p.Arg1090=)
c.2614C>A (p.Arg872=)
c.3058C>A (p.Arg1020=)
9g.135784857C=CA1883884465KCNT1c.3124C= (p.Arg1042=)
c.2965C= (p.Arg989=)
c.2872C= (p.Arg958=)
c.2881C= (p.Arg961=)
c.3025C= (p.Arg1009=)
c.*2734C= (n.*2734C=)
c.3007C= (p.Arg1003=)
c.3067C= (p.Arg1023=)
c.3061C= (p.Arg1021=)
n.2943C=
c.2989C= (p.Arg997=)
c.2959C= (p.Arg987=)
c.990C= (n.990C=)
c.3259C= (p.Arg1087=)
c.3268C= (p.Arg1090=)
c.2614C= (p.Arg872=)
c.3058C= (p.Arg1020=)
9g.135784857C>GCA375518235KCNT1c.3124C>G (p.Arg1042Gly)
c.2965C>G (p.Arg989Gly)
c.2872C>G (p.Arg958Gly)
c.2881C>G (p.Arg961Gly)
c.3025C>G (p.Arg1009Gly)
c.*2734C>G (n.*2734C>G)
c.3007C>G (p.Arg1003Gly)
c.3067C>G (p.Arg1023Gly)
c.3061C>G (p.Arg1021Gly)
n.2943C>G
c.2989C>G (p.Arg997Gly)
c.2959C>G (p.Arg987Gly)
c.990C>G (n.990C>G)
c.3259C>G (p.Arg1087Gly)
c.3268C>G (p.Arg1090Gly)
c.2614C>G (p.Arg872Gly)
c.3058C>G (p.Arg1020Gly)
9g.135784857C>TCA5327618KCNT1c.3124C>T (p.Arg1042Trp)
c.2965C>T (p.Arg989Trp)
c.2872C>T (p.Arg958Trp)
c.2881C>T (p.Arg961Trp)
c.3025C>T (p.Arg1009Trp)
c.*2734C>T (n.*2734C>T)
c.3007C>T (p.Arg1003Trp)
c.3067C>T (p.Arg1023Trp)
c.3061C>T (p.Arg1021Trp)
n.2943C>T
c.2989C>T (p.Arg997Trp)
c.2959C>T (p.Arg987Trp)
c.990C>T (n.990C>T)
c.3259C>T (p.Arg1087Trp)
c.3268C>T (p.Arg1090Trp)
c.2614C>T (p.Arg872Trp)
c.3058C>T (p.Arg1020Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135784858G>ACA5327619KCNT1c.3125G>A (p.Arg1042Gln)
c.2966G>A (p.Arg989Gln)
c.2873G>A (p.Arg958Gln)
c.2882G>A (p.Arg961Gln)
c.3026G>A (p.Arg1009Gln)
c.*2735G>A (n.*2735G>A)
c.3008G>A (p.Arg1003Gln)
c.3068G>A (p.Arg1023Gln)
c.3062G>A (p.Arg1021Gln)
n.2944G>A
c.2990G>A (p.Arg997Gln)
c.2960G>A (p.Arg987Gln)
c.991G>A (n.991G>A)
c.3260G>A (p.Arg1087Gln)
c.3269G>A (p.Arg1090Gln)
c.2615G>A (p.Arg872Gln)
c.3059G>A (p.Arg1020Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135784858G>CCA375518236KCNT1c.3125G>C (p.Arg1042Pro)
c.2966G>C (p.Arg989Pro)
c.2873G>C (p.Arg958Pro)
c.2882G>C (p.Arg961Pro)
c.3026G>C (p.Arg1009Pro)
c.*2735G>C (n.*2735G>C)
c.3008G>C (p.Arg1003Pro)
c.3068G>C (p.Arg1023Pro)
c.3062G>C (p.Arg1021Pro)
n.2944G>C
c.2990G>C (p.Arg997Pro)
c.2960G>C (p.Arg987Pro)
c.991G>C (n.991G>C)
c.3260G>C (p.Arg1087Pro)
c.3269G>C (p.Arg1090Pro)
c.2615G>C (p.Arg872Pro)
c.3059G>C (p.Arg1020Pro)
9g.135784858G=CA1883884470KCNT1c.3125G= (p.Arg1042=)
c.2966G= (p.Arg989=)
c.2873G= (p.Arg958=)
c.2882G= (p.Arg961=)
c.3026G= (p.Arg1009=)
c.*2735G= (n.*2735G=)
c.3008G= (p.Arg1003=)
c.3068G= (p.Arg1023=)
c.3062G= (p.Arg1021=)
n.2944G=
c.2990G= (p.Arg997=)
c.2960G= (p.Arg987=)
c.991G= (n.991G=)
c.3260G= (p.Arg1087=)
c.3269G= (p.Arg1090=)
c.2615G= (p.Arg872=)
c.3059G= (p.Arg1020=)
9g.135784858G>TCA375518237KCNT1c.3125G>T (p.Arg1042Leu)
c.2966G>T (p.Arg989Leu)
c.2873G>T (p.Arg958Leu)
c.2882G>T (p.Arg961Leu)
c.3026G>T (p.Arg1009Leu)
c.*2735G>T (n.*2735G>T)
c.3008G>T (p.Arg1003Leu)
c.3068G>T (p.Arg1023Leu)
c.3062G>T (p.Arg1021Leu)
n.2944G>T
c.2990G>T (p.Arg997Leu)
c.2960G>T (p.Arg987Leu)
c.991G>T (n.991G>T)
c.3260G>T (p.Arg1087Leu)
c.3269G>T (p.Arg1090Leu)
c.2615G>T (p.Arg872Leu)
c.3059G>T (p.Arg1020Leu)
9g.135784859G>ACA467821030KCNT1c.3126G>A (p.Arg1042=)
c.2967G>A (p.Arg989=)
c.2874G>A (p.Arg958=)
c.2883G>A (p.Arg961=)
c.3027G>A (p.Arg1009=)
c.*2736G>A (n.*2736G>A)
c.3009G>A (p.Arg1003=)
c.3069G>A (p.Arg1023=)
c.3063G>A (p.Arg1021=)
n.2945G>A
c.2991G>A (p.Arg997=)
c.2961G>A (p.Arg987=)
c.3261G>A (p.Arg1087=)
c.3270G>A (p.Arg1090=)
c.2616G>A (p.Arg872=)
c.3060G>A (p.Arg1020=)
9g.135784859G>CCA467821029KCNT1c.3126G>C (p.Arg1042=)
c.2967G>C (p.Arg989=)
c.2874G>C (p.Arg958=)
c.2883G>C (p.Arg961=)
c.3027G>C (p.Arg1009=)
c.*2736G>C (n.*2736G>C)
c.3009G>C (p.Arg1003=)
c.3069G>C (p.Arg1023=)
c.3063G>C (p.Arg1021=)
n.2945G>C
c.2991G>C (p.Arg997=)
c.2961G>C (p.Arg987=)
c.3261G>C (p.Arg1087=)
c.3270G>C (p.Arg1090=)
c.2616G>C (p.Arg872=)
c.3060G>C (p.Arg1020=)
9g.135784859G>TCA467821028KCNT1c.3126G>T (p.Arg1042=)
c.2967G>T (p.Arg989=)
c.2874G>T (p.Arg958=)
c.2883G>T (p.Arg961=)
c.3027G>T (p.Arg1009=)
c.*2736G>T (n.*2736G>T)
c.3009G>T (p.Arg1003=)
c.3069G>T (p.Arg1023=)
c.3063G>T (p.Arg1021=)
n.2945G>T
c.2991G>T (p.Arg997=)
c.2961G>T (p.Arg987=)
c.3261G>T (p.Arg1087=)
c.3270G>T (p.Arg1090=)
c.2616G>T (p.Arg872=)
c.3060G>T (p.Arg1020=)

Number of alleles fetched