Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.135786419A=CA1883888302KCNT1c.3400A= (p.Ser1134=)
c.3241A= (p.Ser1081=)
c.3148A= (p.Ser1050=)
c.3157A= (p.Ser1053=)
c.3301A= (p.Ser1101=)
c.*3010A= (n.*3010A=)
c.3283A= (p.Ser1095=)
c.3322A= (p.Ser1108=)
c.3337A= (p.Ser1113=)
c.3343A= (p.Ser1115=)
c.3265A= (p.Ser1089=)
c.3235A= (p.Ser1079=)
c.3535A= (p.Ser1179=)
c.3544A= (p.Ser1182=)
c.2890A= (p.Ser964=)
c.3334A= (p.Ser1112=)
9g.135786419A>CCA375492003KCNT1c.3400A>C (p.Ser1134Arg)
c.3241A>C (p.Ser1081Arg)
c.3148A>C (p.Ser1050Arg)
c.3157A>C (p.Ser1053Arg)
c.3301A>C (p.Ser1101Arg)
c.*3010A>C (n.*3010A>C)
c.3283A>C (p.Ser1095Arg)
c.3322A>C (p.Ser1108Arg)
c.3337A>C (p.Ser1113Arg)
c.3343A>C (p.Ser1115Arg)
c.3265A>C (p.Ser1089Arg)
c.3235A>C (p.Ser1079Arg)
c.3535A>C (p.Ser1179Arg)
c.3544A>C (p.Ser1182Arg)
c.2890A>C (p.Ser964Arg)
c.3334A>C (p.Ser1112Arg)
9g.135786419A>GCA375492005KCNT1c.3400A>G (p.Ser1134Gly)
c.3241A>G (p.Ser1081Gly)
c.3148A>G (p.Ser1050Gly)
c.3157A>G (p.Ser1053Gly)
c.3301A>G (p.Ser1101Gly)
c.*3010A>G (n.*3010A>G)
c.3283A>G (p.Ser1095Gly)
c.3322A>G (p.Ser1108Gly)
c.3337A>G (p.Ser1113Gly)
c.3343A>G (p.Ser1115Gly)
c.3265A>G (p.Ser1089Gly)
c.3235A>G (p.Ser1079Gly)
c.3535A>G (p.Ser1179Gly)
c.3544A>G (p.Ser1182Gly)
c.2890A>G (p.Ser964Gly)
c.3334A>G (p.Ser1112Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135786419A>TCA375492007KCNT1c.3400A>T (p.Ser1134Cys)
c.3241A>T (p.Ser1081Cys)
c.3148A>T (p.Ser1050Cys)
c.3157A>T (p.Ser1053Cys)
c.3301A>T (p.Ser1101Cys)
c.*3010A>T (n.*3010A>T)
c.3283A>T (p.Ser1095Cys)
c.3322A>T (p.Ser1108Cys)
c.3337A>T (p.Ser1113Cys)
c.3343A>T (p.Ser1115Cys)
c.3265A>T (p.Ser1089Cys)
c.3235A>T (p.Ser1079Cys)
c.3535A>T (p.Ser1179Cys)
c.3544A>T (p.Ser1182Cys)
c.2890A>T (p.Ser964Cys)
c.3334A>T (p.Ser1112Cys)
9g.135786420G>ACA375492011KCNT1c.3401G>A (p.Ser1134Asn)
c.3242G>A (p.Ser1081Asn)
c.3149G>A (p.Ser1050Asn)
c.3158G>A (p.Ser1053Asn)
c.3302G>A (p.Ser1101Asn)
c.*3011G>A (n.*3011G>A)
c.3284G>A (p.Ser1095Asn)
c.3323G>A (p.Ser1108Asn)
c.3338G>A (p.Ser1113Asn)
c.3344G>A (p.Ser1115Asn)
c.3266G>A (p.Ser1089Asn)
c.3236G>A (p.Ser1079Asn)
c.3536G>A (p.Ser1179Asn)
c.3545G>A (p.Ser1182Asn)
c.2891G>A (p.Ser964Asn)
c.3335G>A (p.Ser1112Asn)
9g.135786420G>CCA375492016KCNT1c.3401G>C (p.Ser1134Thr)
c.3242G>C (p.Ser1081Thr)
c.3149G>C (p.Ser1050Thr)
c.3158G>C (p.Ser1053Thr)
c.3302G>C (p.Ser1101Thr)
c.*3011G>C (n.*3011G>C)
c.3284G>C (p.Ser1095Thr)
c.3323G>C (p.Ser1108Thr)
c.3338G>C (p.Ser1113Thr)
c.3344G>C (p.Ser1115Thr)
c.3266G>C (p.Ser1089Thr)
c.3236G>C (p.Ser1079Thr)
c.3536G>C (p.Ser1179Thr)
c.3545G>C (p.Ser1182Thr)
c.2891G>C (p.Ser964Thr)
c.3335G>C (p.Ser1112Thr)
9g.135786420G>TCA375492013KCNT1c.3401G>T (p.Ser1134Ile)
c.3242G>T (p.Ser1081Ile)
c.3149G>T (p.Ser1050Ile)
c.3158G>T (p.Ser1053Ile)
c.3302G>T (p.Ser1101Ile)
c.*3011G>T (n.*3011G>T)
c.3284G>T (p.Ser1095Ile)
c.3323G>T (p.Ser1108Ile)
c.3338G>T (p.Ser1113Ile)
c.3344G>T (p.Ser1115Ile)
c.3266G>T (p.Ser1089Ile)
c.3236G>T (p.Ser1079Ile)
c.3536G>T (p.Ser1179Ile)
c.3545G>T (p.Ser1182Ile)
c.2891G>T (p.Ser964Ile)
c.3335G>T (p.Ser1112Ile)
 gnomAD v4
9g.135786421C>ACA375492017KCNT1c.3402C>A (p.Ser1134Arg)
c.3243C>A (p.Ser1081Arg)
c.3150C>A (p.Ser1050Arg)
c.3159C>A (p.Ser1053Arg)
c.3303C>A (p.Ser1101Arg)
c.*3012C>A (n.*3012C>A)
c.3285C>A (p.Ser1095Arg)
c.3324C>A (p.Ser1108Arg)
c.3339C>A (p.Ser1113Arg)
c.3345C>A (p.Ser1115Arg)
c.3267C>A (p.Ser1089Arg)
c.3237C>A (p.Ser1079Arg)
c.3537C>A (p.Ser1179Arg)
c.3546C>A (p.Ser1182Arg)
c.2892C>A (p.Ser964Arg)
c.3336C>A (p.Ser1112Arg)
 gnomAD v4
9g.135786421C=CA1883888305KCNT1c.3402C= (p.Ser1134=)
c.3243C= (p.Ser1081=)
c.3150C= (p.Ser1050=)
c.3159C= (p.Ser1053=)
c.3303C= (p.Ser1101=)
c.*3012C= (n.*3012C=)
c.3285C= (p.Ser1095=)
c.3324C= (p.Ser1108=)
c.3339C= (p.Ser1113=)
c.3345C= (p.Ser1115=)
c.3267C= (p.Ser1089=)
c.3237C= (p.Ser1079=)
c.3537C= (p.Ser1179=)
c.3546C= (p.Ser1182=)
c.2892C= (p.Ser964=)
c.3336C= (p.Ser1112=)
9g.135786421C>GCA375492019KCNT1c.3402C>G (p.Ser1134Arg)
c.3243C>G (p.Ser1081Arg)
c.3150C>G (p.Ser1050Arg)
c.3159C>G (p.Ser1053Arg)
c.3303C>G (p.Ser1101Arg)
c.*3012C>G (n.*3012C>G)
c.3285C>G (p.Ser1095Arg)
c.3324C>G (p.Ser1108Arg)
c.3339C>G (p.Ser1113Arg)
c.3345C>G (p.Ser1115Arg)
c.3267C>G (p.Ser1089Arg)
c.3237C>G (p.Ser1079Arg)
c.3537C>G (p.Ser1179Arg)
c.3546C>G (p.Ser1182Arg)
c.2892C>G (p.Ser964Arg)
c.3336C>G (p.Ser1112Arg)
 dbSNP
9g.135786421C>TCA467821284KCNT1c.3402C>T (p.Ser1134=)
c.3243C>T (p.Ser1081=)
c.3150C>T (p.Ser1050=)
c.3159C>T (p.Ser1053=)
c.3303C>T (p.Ser1101=)
c.*3012C>T (n.*3012C>T)
c.3285C>T (p.Ser1095=)
c.3324C>T (p.Ser1108=)
c.3339C>T (p.Ser1113=)
c.3345C>T (p.Ser1115=)
c.3267C>T (p.Ser1089=)
c.3237C>T (p.Ser1079=)
c.3537C>T (p.Ser1179=)
c.3546C>T (p.Ser1182=)
c.2892C>T (p.Ser964=)
c.3336C>T (p.Ser1112=)
 gnomAD v4
9g.135786422dupCA2692525742KCNT1c.3403dup (p.Gln1135ProfsTer11)
c.3244dup (p.Gln1082ProfsTer11)
c.3151dup (p.Gln1051ProfsTer11)
c.3160dup (p.Gln1054ProfsTer11)
c.3304dup (p.Gln1102ProfsTer11)
c.*3013dup (n.*3013dup)
c.3286dup (p.Gln1096ProfsTer11)
c.3325dup (p.Gln1109ProfsTer11)
c.3340dup (p.Gln1114ProfsTer11)
c.3346dup (p.Gln1116ProfsTer11)
c.3268dup (p.Gln1090ProfsTer11)
c.3238dup (p.Gln1080ProfsTer11)
c.3538dup (p.Gln1180ProfsTer11)
c.3547dup (p.Gln1183ProfsTer11)
c.2893dup (p.Gln965ProfsTer11)
c.3337dup (p.Gln1113ProfsTer11)
 gnomAD v4
9g.135786422C>ACA375492022KCNT1c.3403C>A (p.Gln1135Lys)
c.3244C>A (p.Gln1082Lys)
c.3151C>A (p.Gln1051Lys)
c.3160C>A (p.Gln1054Lys)
c.3304C>A (p.Gln1102Lys)
c.*3013C>A (n.*3013C>A)
c.3286C>A (p.Gln1096Lys)
c.3325C>A (p.Gln1109Lys)
c.3340C>A (p.Gln1114Lys)
c.3346C>A (p.Gln1116Lys)
c.3268C>A (p.Gln1090Lys)
c.3238C>A (p.Gln1080Lys)
c.3538C>A (p.Gln1180Lys)
c.3547C>A (p.Gln1183Lys)
c.2893C>A (p.Gln965Lys)
c.3337C>A (p.Gln1113Lys)
9g.135786422C>GCA375492024KCNT1c.3403C>G (p.Gln1135Glu)
c.3244C>G (p.Gln1082Glu)
c.3151C>G (p.Gln1051Glu)
c.3160C>G (p.Gln1054Glu)
c.3304C>G (p.Gln1102Glu)
c.*3013C>G (n.*3013C>G)
c.3286C>G (p.Gln1096Glu)
c.3325C>G (p.Gln1109Glu)
c.3340C>G (p.Gln1114Glu)
c.3346C>G (p.Gln1116Glu)
c.3268C>G (p.Gln1090Glu)
c.3238C>G (p.Gln1080Glu)
c.3538C>G (p.Gln1180Glu)
c.3547C>G (p.Gln1183Glu)
c.2893C>G (p.Gln965Glu)
c.3337C>G (p.Gln1113Glu)
9g.135786422C>TCA375492027KCNT1c.3403C>T (p.Gln1135Ter)
c.3244C>T (p.Gln1082Ter)
c.3151C>T (p.Gln1051Ter)
c.3160C>T (p.Gln1054Ter)
c.3304C>T (p.Gln1102Ter)
c.*3013C>T (n.*3013C>T)
c.3286C>T (p.Gln1096Ter)
c.3325C>T (p.Gln1109Ter)
c.3340C>T (p.Gln1114Ter)
c.3346C>T (p.Gln1116Ter)
c.3268C>T (p.Gln1090Ter)
c.3238C>T (p.Gln1080Ter)
c.3538C>T (p.Gln1180Ter)
c.3547C>T (p.Gln1183Ter)
c.2893C>T (p.Gln965Ter)
c.3337C>T (p.Gln1113Ter)
9g.135786423A>CCA375492028KCNT1c.3404A>C (p.Gln1135Pro)
c.3245A>C (p.Gln1082Pro)
c.3152A>C (p.Gln1051Pro)
c.3161A>C (p.Gln1054Pro)
c.3305A>C (p.Gln1102Pro)
c.*3014A>C (n.*3014A>C)
c.3287A>C (p.Gln1096Pro)
c.3326A>C (p.Gln1109Pro)
c.3341A>C (p.Gln1114Pro)
c.3347A>C (p.Gln1116Pro)
c.3269A>C (p.Gln1090Pro)
c.3239A>C (p.Gln1080Pro)
c.3539A>C (p.Gln1180Pro)
c.3548A>C (p.Gln1183Pro)
c.2894A>C (p.Gln965Pro)
c.3338A>C (p.Gln1113Pro)
9g.135786423A>GCA375492031KCNT1c.3404A>G (p.Gln1135Arg)
c.3245A>G (p.Gln1082Arg)
c.3152A>G (p.Gln1051Arg)
c.3161A>G (p.Gln1054Arg)
c.3305A>G (p.Gln1102Arg)
c.*3014A>G (n.*3014A>G)
c.3287A>G (p.Gln1096Arg)
c.3326A>G (p.Gln1109Arg)
c.3341A>G (p.Gln1114Arg)
c.3347A>G (p.Gln1116Arg)
c.3269A>G (p.Gln1090Arg)
c.3239A>G (p.Gln1080Arg)
c.3539A>G (p.Gln1180Arg)
c.3548A>G (p.Gln1183Arg)
c.2894A>G (p.Gln965Arg)
c.3338A>G (p.Gln1113Arg)
9g.135786423A>TCA375492034KCNT1c.3404A>T (p.Gln1135Leu)
c.3245A>T (p.Gln1082Leu)
c.3152A>T (p.Gln1051Leu)
c.3161A>T (p.Gln1054Leu)
c.3305A>T (p.Gln1102Leu)
c.*3014A>T (n.*3014A>T)
c.3287A>T (p.Gln1096Leu)
c.3326A>T (p.Gln1109Leu)
c.3341A>T (p.Gln1114Leu)
c.3347A>T (p.Gln1116Leu)
c.3269A>T (p.Gln1090Leu)
c.3239A>T (p.Gln1080Leu)
c.3539A>T (p.Gln1180Leu)
c.3548A>T (p.Gln1183Leu)
c.2894A>T (p.Gln965Leu)
c.3338A>T (p.Gln1113Leu)
9g.135786424G>ACA467821285KCNT1c.3405G>A (p.Gln1135=)
c.3246G>A (p.Gln1082=)
c.3153G>A (p.Gln1051=)
c.3162G>A (p.Gln1054=)
c.3306G>A (p.Gln1102=)
c.*3015G>A (n.*3015G>A)
c.3288G>A (p.Gln1096=)
c.3327G>A (p.Gln1109=)
c.3342G>A (p.Gln1114=)
c.3348G>A (p.Gln1116=)
c.3270G>A (p.Gln1090=)
c.3240G>A (p.Gln1080=)
c.3540G>A (p.Gln1180=)
c.3549G>A (p.Gln1183=)
c.2895G>A (p.Gln965=)
c.3339G>A (p.Gln1113=)
 gnomAD v4
9g.135786424G>CCA375492037KCNT1c.3405G>C (p.Gln1135His)
c.3246G>C (p.Gln1082His)
c.3153G>C (p.Gln1051His)
c.3162G>C (p.Gln1054His)
c.3306G>C (p.Gln1102His)
c.*3015G>C (n.*3015G>C)
c.3288G>C (p.Gln1096His)
c.3327G>C (p.Gln1109His)
c.3342G>C (p.Gln1114His)
c.3348G>C (p.Gln1116His)
c.3270G>C (p.Gln1090His)
c.3240G>C (p.Gln1080His)
c.3540G>C (p.Gln1180His)
c.3549G>C (p.Gln1183His)
c.2895G>C (p.Gln965His)
c.3339G>C (p.Gln1113His)
9g.135786424G>TCA375492039KCNT1c.3405G>T (p.Gln1135His)
c.3246G>T (p.Gln1082His)
c.3153G>T (p.Gln1051His)
c.3162G>T (p.Gln1054His)
c.3306G>T (p.Gln1102His)
c.*3015G>T (n.*3015G>T)
c.3288G>T (p.Gln1096His)
c.3327G>T (p.Gln1109His)
c.3342G>T (p.Gln1114His)
c.3348G>T (p.Gln1116His)
c.3270G>T (p.Gln1090His)
c.3240G>T (p.Gln1080His)
c.3540G>T (p.Gln1180His)
c.3549G>T (p.Gln1183His)
c.2895G>T (p.Gln965His)
c.3339G>T (p.Gln1113His)
9g.135786425C>ACA375492046KCNT1c.3406C>A (p.Gln1136Lys)
c.3247C>A (p.Gln1083Lys)
c.3154C>A (p.Gln1052Lys)
c.3163C>A (p.Gln1055Lys)
c.3307C>A (p.Gln1103Lys)
c.*3016C>A (n.*3016C>A)
c.3289C>A (p.Gln1097Lys)
c.3328C>A (p.Gln1110Lys)
c.3343C>A (p.Gln1115Lys)
c.3349C>A (p.Gln1117Lys)
c.3271C>A (p.Gln1091Lys)
c.3241C>A (p.Gln1081Lys)
c.3541C>A (p.Gln1181Lys)
c.3550C>A (p.Gln1184Lys)
c.2896C>A (p.Gln966Lys)
c.3340C>A (p.Gln1114Lys)
 gnomAD v4
9g.135786425C=CA1883888307KCNT1c.3406C= (p.Gln1136=)
c.3247C= (p.Gln1083=)
c.3154C= (p.Gln1052=)
c.3163C= (p.Gln1055=)
c.3307C= (p.Gln1103=)
c.*3016C= (n.*3016C=)
c.3289C= (p.Gln1097=)
c.3328C= (p.Gln1110=)
c.3343C= (p.Gln1115=)
c.3349C= (p.Gln1117=)
c.3271C= (p.Gln1091=)
c.3241C= (p.Gln1081=)
c.3541C= (p.Gln1181=)
c.3550C= (p.Gln1184=)
c.2896C= (p.Gln966=)
c.3340C= (p.Gln1114=)
9g.135786425C>GCA5327806KCNT1c.3406C>G (p.Gln1136Glu)
c.3247C>G (p.Gln1083Glu)
c.3154C>G (p.Gln1052Glu)
c.3163C>G (p.Gln1055Glu)
c.3307C>G (p.Gln1103Glu)
c.*3016C>G (n.*3016C>G)
c.3289C>G (p.Gln1097Glu)
c.3328C>G (p.Gln1110Glu)
c.3343C>G (p.Gln1115Glu)
c.3349C>G (p.Gln1117Glu)
c.3271C>G (p.Gln1091Glu)
c.3241C>G (p.Gln1081Glu)
c.3541C>G (p.Gln1181Glu)
c.3550C>G (p.Gln1184Glu)
c.2896C>G (p.Gln966Glu)
c.3340C>G (p.Gln1114Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135786425C>TCA375492043KCNT1c.3406C>T (p.Gln1136Ter)
c.3247C>T (p.Gln1083Ter)
c.3154C>T (p.Gln1052Ter)
c.3163C>T (p.Gln1055Ter)
c.3307C>T (p.Gln1103Ter)
c.*3016C>T (n.*3016C>T)
c.3289C>T (p.Gln1097Ter)
c.3328C>T (p.Gln1110Ter)
c.3343C>T (p.Gln1115Ter)
c.3349C>T (p.Gln1117Ter)
c.3271C>T (p.Gln1091Ter)
c.3241C>T (p.Gln1081Ter)
c.3541C>T (p.Gln1181Ter)
c.3550C>T (p.Gln1184Ter)
c.2896C>T (p.Gln966Ter)
c.3340C>T (p.Gln1114Ter)
 dbSNP gnomAD v3 gnomAD v4
9g.135786426A>CCA375492048KCNT1c.3407A>C (p.Gln1136Pro)
c.3248A>C (p.Gln1083Pro)
c.3155A>C (p.Gln1052Pro)
c.3164A>C (p.Gln1055Pro)
c.3308A>C (p.Gln1103Pro)
c.*3017A>C (n.*3017A>C)
c.3290A>C (p.Gln1097Pro)
c.3329A>C (p.Gln1110Pro)
c.3344A>C (p.Gln1115Pro)
c.3350A>C (p.Gln1117Pro)
c.3272A>C (p.Gln1091Pro)
c.3242A>C (p.Gln1081Pro)
c.3542A>C (p.Gln1181Pro)
c.3551A>C (p.Gln1184Pro)
c.2897A>C (p.Gln966Pro)
c.3341A>C (p.Gln1114Pro)
9g.135786426A>GCA375492053KCNT1c.3407A>G (p.Gln1136Arg)
c.3248A>G (p.Gln1083Arg)
c.3155A>G (p.Gln1052Arg)
c.3164A>G (p.Gln1055Arg)
c.3308A>G (p.Gln1103Arg)
c.*3017A>G (n.*3017A>G)
c.3290A>G (p.Gln1097Arg)
c.3329A>G (p.Gln1110Arg)
c.3344A>G (p.Gln1115Arg)
c.3350A>G (p.Gln1117Arg)
c.3272A>G (p.Gln1091Arg)
c.3242A>G (p.Gln1081Arg)
c.3542A>G (p.Gln1181Arg)
c.3551A>G (p.Gln1184Arg)
c.2897A>G (p.Gln966Arg)
c.3341A>G (p.Gln1114Arg)
 ClinVar
9g.135786426A>TCA375492051KCNT1c.3407A>T (p.Gln1136Leu)
c.3248A>T (p.Gln1083Leu)
c.3155A>T (p.Gln1052Leu)
c.3164A>T (p.Gln1055Leu)
c.3308A>T (p.Gln1103Leu)
c.*3017A>T (n.*3017A>T)
c.3290A>T (p.Gln1097Leu)
c.3329A>T (p.Gln1110Leu)
c.3344A>T (p.Gln1115Leu)
c.3350A>T (p.Gln1117Leu)
c.3272A>T (p.Gln1091Leu)
c.3242A>T (p.Gln1081Leu)
c.3542A>T (p.Gln1181Leu)
c.3551A>T (p.Gln1184Leu)
c.2897A>T (p.Gln966Leu)
c.3341A>T (p.Gln1114Leu)
9g.135786427G>ACA467821286KCNT1c.3408G>A (p.Gln1136=)
c.3249G>A (p.Gln1083=)
c.3156G>A (p.Gln1052=)
c.3165G>A (p.Gln1055=)
c.3309G>A (p.Gln1103=)
c.*3018G>A (n.*3018G>A)
c.3291G>A (p.Gln1097=)
c.3330G>A (p.Gln1110=)
c.3345G>A (p.Gln1115=)
c.3351G>A (p.Gln1117=)
c.3273G>A (p.Gln1091=)
c.3243G>A (p.Gln1081=)
c.3543G>A (p.Gln1181=)
c.3552G>A (p.Gln1184=)
c.2898G>A (p.Gln966=)
c.3342G>A (p.Gln1114=)
9g.135786427G>CCA375492055KCNT1c.3408G>C (p.Gln1136His)
c.3249G>C (p.Gln1083His)
c.3156G>C (p.Gln1052His)
c.3165G>C (p.Gln1055His)
c.3309G>C (p.Gln1103His)
c.*3018G>C (n.*3018G>C)
c.3291G>C (p.Gln1097His)
c.3330G>C (p.Gln1110His)
c.3345G>C (p.Gln1115His)
c.3351G>C (p.Gln1117His)
c.3273G>C (p.Gln1091His)
c.3243G>C (p.Gln1081His)
c.3543G>C (p.Gln1181His)
c.3552G>C (p.Gln1184His)
c.2898G>C (p.Gln966His)
c.3342G>C (p.Gln1114His)
9g.135786427G>TCA375492057KCNT1c.3408G>T (p.Gln1136His)
c.3249G>T (p.Gln1083His)
c.3156G>T (p.Gln1052His)
c.3165G>T (p.Gln1055His)
c.3309G>T (p.Gln1103His)
c.*3018G>T (n.*3018G>T)
c.3291G>T (p.Gln1097His)
c.3330G>T (p.Gln1110His)
c.3345G>T (p.Gln1115His)
c.3351G>T (p.Gln1117His)
c.3273G>T (p.Gln1091His)
c.3243G>T (p.Gln1081His)
c.3543G>T (p.Gln1181His)
c.3552G>T (p.Gln1184His)
c.2898G>T (p.Gln966His)
c.3342G>T (p.Gln1114His)
9g.135786428C>ACA5327807KCNT1c.3409C>A (p.Arg1137Ser)
c.3250C>A (p.Arg1084Ser)
c.3157C>A (p.Arg1053Ser)
c.3166C>A (p.Arg1056Ser)
c.3310C>A (p.Arg1104Ser)
c.*3019C>A (n.*3019C>A)
c.3292C>A (p.Arg1098Ser)
c.3331C>A (p.Arg1111Ser)
c.3346C>A (p.Arg1116Ser)
c.3352C>A (p.Arg1118Ser)
c.3274C>A (p.Arg1092Ser)
c.3244C>A (p.Arg1082Ser)
c.3544C>A (p.Arg1182Ser)
c.3553C>A (p.Arg1185Ser)
c.2899C>A (p.Arg967Ser)
c.3343C>A (p.Arg1115Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
9g.135786428C=CA1883888308KCNT1c.3409C= (p.Arg1137=)
c.3250C= (p.Arg1084=)
c.3157C= (p.Arg1053=)
c.3166C= (p.Arg1056=)
c.3310C= (p.Arg1104=)
c.*3019C= (n.*3019C=)
c.3292C= (p.Arg1098=)
c.3331C= (p.Arg1111=)
c.3346C= (p.Arg1116=)
c.3352C= (p.Arg1118=)
c.3274C= (p.Arg1092=)
c.3244C= (p.Arg1082=)
c.3544C= (p.Arg1182=)
c.3553C= (p.Arg1185=)
c.2899C= (p.Arg967=)
c.3343C= (p.Arg1115=)
9g.135786428C>GCA375492061KCNT1c.3409C>G (p.Arg1137Gly)
c.3250C>G (p.Arg1084Gly)
c.3157C>G (p.Arg1053Gly)
c.3166C>G (p.Arg1056Gly)
c.3310C>G (p.Arg1104Gly)
c.*3019C>G (n.*3019C>G)
c.3292C>G (p.Arg1098Gly)
c.3331C>G (p.Arg1111Gly)
c.3346C>G (p.Arg1116Gly)
c.3352C>G (p.Arg1118Gly)
c.3274C>G (p.Arg1092Gly)
c.3244C>G (p.Arg1082Gly)
c.3544C>G (p.Arg1182Gly)
c.3553C>G (p.Arg1185Gly)
c.2899C>G (p.Arg967Gly)
c.3343C>G (p.Arg1115Gly)
9g.135786428C>TCA5327808KCNT1c.3409C>T (p.Arg1137Cys)
c.3250C>T (p.Arg1084Cys)
c.3157C>T (p.Arg1053Cys)
c.3166C>T (p.Arg1056Cys)
c.3310C>T (p.Arg1104Cys)
c.*3019C>T (n.*3019C>T)
c.3292C>T (p.Arg1098Cys)
c.3331C>T (p.Arg1111Cys)
c.3346C>T (p.Arg1116Cys)
c.3352C>T (p.Arg1118Cys)
c.3274C>T (p.Arg1092Cys)
c.3244C>T (p.Arg1082Cys)
c.3544C>T (p.Arg1182Cys)
c.3553C>T (p.Arg1185Cys)
c.2899C>T (p.Arg967Cys)
c.3343C>T (p.Arg1115Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786429G>ACA5327809KCNT1c.3410G>A (p.Arg1137His)
c.3251G>A (p.Arg1084His)
c.3158G>A (p.Arg1053His)
c.3167G>A (p.Arg1056His)
c.3311G>A (p.Arg1104His)
c.*3020G>A (n.*3020G>A)
c.3293G>A (p.Arg1098His)
c.3332G>A (p.Arg1111His)
c.3347G>A (p.Arg1116His)
c.3353G>A (p.Arg1118His)
c.3275G>A (p.Arg1092His)
c.3245G>A (p.Arg1082His)
c.3545G>A (p.Arg1182His)
c.3554G>A (p.Arg1185His)
c.2900G>A (p.Arg967His)
c.3344G>A (p.Arg1115His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786429G>CCA375492068KCNT1c.3410G>C (p.Arg1137Pro)
c.3251G>C (p.Arg1084Pro)
c.3158G>C (p.Arg1053Pro)
c.3167G>C (p.Arg1056Pro)
c.3311G>C (p.Arg1104Pro)
c.*3020G>C (n.*3020G>C)
c.3293G>C (p.Arg1098Pro)
c.3332G>C (p.Arg1111Pro)
c.3347G>C (p.Arg1116Pro)
c.3353G>C (p.Arg1118Pro)
c.3275G>C (p.Arg1092Pro)
c.3245G>C (p.Arg1082Pro)
c.3545G>C (p.Arg1182Pro)
c.3554G>C (p.Arg1185Pro)
c.2900G>C (p.Arg967Pro)
c.3344G>C (p.Arg1115Pro)
9g.135786429G=CA1883888309KCNT1c.3410G= (p.Arg1137=)
c.3251G= (p.Arg1084=)
c.3158G= (p.Arg1053=)
c.3167G= (p.Arg1056=)
c.3311G= (p.Arg1104=)
c.*3020G= (n.*3020G=)
c.3293G= (p.Arg1098=)
c.3332G= (p.Arg1111=)
c.3347G= (p.Arg1116=)
c.3353G= (p.Arg1118=)
c.3275G= (p.Arg1092=)
c.3245G= (p.Arg1082=)
c.3545G= (p.Arg1182=)
c.3554G= (p.Arg1185=)
c.2900G= (p.Arg967=)
c.3344G= (p.Arg1115=)
9g.135786429G>TCA375492066KCNT1c.3410G>T (p.Arg1137Leu)
c.3251G>T (p.Arg1084Leu)
c.3158G>T (p.Arg1053Leu)
c.3167G>T (p.Arg1056Leu)
c.3311G>T (p.Arg1104Leu)
c.*3020G>T (n.*3020G>T)
c.3293G>T (p.Arg1098Leu)
c.3332G>T (p.Arg1111Leu)
c.3347G>T (p.Arg1116Leu)
c.3353G>T (p.Arg1118Leu)
c.3275G>T (p.Arg1092Leu)
c.3245G>T (p.Arg1082Leu)
c.3545G>T (p.Arg1182Leu)
c.3554G>T (p.Arg1185Leu)
c.2900G>T (p.Arg967Leu)
c.3344G>T (p.Arg1115Leu)
 gnomAD v4
9g.135786430C>ACA467821289KCNT1c.3411C>A (p.Arg1137=)
c.3252C>A (p.Arg1084=)
c.3159C>A (p.Arg1053=)
c.3168C>A (p.Arg1056=)
c.3312C>A (p.Arg1104=)
c.*3021C>A (n.*3021C>A)
c.3294C>A (p.Arg1098=)
c.3333C>A (p.Arg1111=)
c.3348C>A (p.Arg1116=)
c.3354C>A (p.Arg1118=)
c.3276C>A (p.Arg1092=)
c.3246C>A (p.Arg1082=)
c.3546C>A (p.Arg1182=)
c.3555C>A (p.Arg1185=)
c.2901C>A (p.Arg967=)
c.3345C>A (p.Arg1115=)
9g.135786430C>GCA467821287KCNT1c.3411C>G (p.Arg1137=)
c.3252C>G (p.Arg1084=)
c.3159C>G (p.Arg1053=)
c.3168C>G (p.Arg1056=)
c.3312C>G (p.Arg1104=)
c.*3021C>G (n.*3021C>G)
c.3294C>G (p.Arg1098=)
c.3333C>G (p.Arg1111=)
c.3348C>G (p.Arg1116=)
c.3354C>G (p.Arg1118=)
c.3276C>G (p.Arg1092=)
c.3246C>G (p.Arg1082=)
c.3546C>G (p.Arg1182=)
c.3555C>G (p.Arg1185=)
c.2901C>G (p.Arg967=)
c.3345C>G (p.Arg1115=)
9g.135786430C>TCA467821288KCNT1c.3411C>T (p.Arg1137=)
c.3252C>T (p.Arg1084=)
c.3159C>T (p.Arg1053=)
c.3168C>T (p.Arg1056=)
c.3312C>T (p.Arg1104=)
c.*3021C>T (n.*3021C>T)
c.3294C>T (p.Arg1098=)
c.3333C>T (p.Arg1111=)
c.3348C>T (p.Arg1116=)
c.3354C>T (p.Arg1118=)
c.3276C>T (p.Arg1092=)
c.3246C>T (p.Arg1082=)
c.3546C>T (p.Arg1182=)
c.3555C>T (p.Arg1185=)
c.2901C>T (p.Arg967=)
c.3345C>T (p.Arg1115=)
 gnomAD v4
9g.135786431C>ACA375492072KCNT1c.3412C>A (p.Leu1138Ile)
c.3253C>A (p.Leu1085Ile)
c.3160C>A (p.Leu1054Ile)
c.3169C>A (p.Leu1057Ile)
c.3313C>A (p.Leu1105Ile)
c.*3022C>A (n.*3022C>A)
c.3295C>A (p.Leu1099Ile)
c.3334C>A (p.Leu1112Ile)
c.3349C>A (p.Leu1117Ile)
c.3355C>A (p.Leu1119Ile)
c.3277C>A (p.Leu1093Ile)
c.3247C>A (p.Leu1083Ile)
c.3547C>A (p.Leu1183Ile)
c.3556C>A (p.Leu1186Ile)
c.2902C>A (p.Leu968Ile)
c.3346C>A (p.Leu1116Ile)
 ClinVar gnomAD v4
9g.135786431C>GCA375492074KCNT1c.3412C>G (p.Leu1138Val)
c.3253C>G (p.Leu1085Val)
c.3160C>G (p.Leu1054Val)
c.3169C>G (p.Leu1057Val)
c.3313C>G (p.Leu1105Val)
c.*3022C>G (n.*3022C>G)
c.3295C>G (p.Leu1099Val)
c.3334C>G (p.Leu1112Val)
c.3349C>G (p.Leu1117Val)
c.3355C>G (p.Leu1119Val)
c.3277C>G (p.Leu1093Val)
c.3247C>G (p.Leu1083Val)
c.3547C>G (p.Leu1183Val)
c.3556C>G (p.Leu1186Val)
c.2902C>G (p.Leu968Val)
c.3346C>G (p.Leu1116Val)
9g.135786431C>TCA375492076KCNT1c.3412C>T (p.Leu1138Phe)
c.3253C>T (p.Leu1085Phe)
c.3160C>T (p.Leu1054Phe)
c.3169C>T (p.Leu1057Phe)
c.3313C>T (p.Leu1105Phe)
c.*3022C>T (n.*3022C>T)
c.3295C>T (p.Leu1099Phe)
c.3334C>T (p.Leu1112Phe)
c.3349C>T (p.Leu1117Phe)
c.3355C>T (p.Leu1119Phe)
c.3277C>T (p.Leu1093Phe)
c.3247C>T (p.Leu1083Phe)
c.3547C>T (p.Leu1183Phe)
c.3556C>T (p.Leu1186Phe)
c.2902C>T (p.Leu968Phe)
c.3346C>T (p.Leu1116Phe)
 gnomAD v4
9g.135786432T>ACA375492078KCNT1c.3413T>A (p.Leu1138His)
c.3254T>A (p.Leu1085His)
c.3161T>A (p.Leu1054His)
c.3170T>A (p.Leu1057His)
c.3314T>A (p.Leu1105His)
c.*3023T>A (n.*3023T>A)
c.3296T>A (p.Leu1099His)
c.3335T>A (p.Leu1112His)
c.3350T>A (p.Leu1117His)
c.3356T>A (p.Leu1119His)
c.3278T>A (p.Leu1093His)
c.3248T>A (p.Leu1083His)
c.3548T>A (p.Leu1183His)
c.3557T>A (p.Leu1186His)
c.2903T>A (p.Leu968His)
c.3347T>A (p.Leu1116His)
9g.135786432T>CCA375492080KCNT1c.3413T>C (p.Leu1138Pro)
c.3254T>C (p.Leu1085Pro)
c.3161T>C (p.Leu1054Pro)
c.3170T>C (p.Leu1057Pro)
c.3314T>C (p.Leu1105Pro)
c.*3023T>C (n.*3023T>C)
c.3296T>C (p.Leu1099Pro)
c.3335T>C (p.Leu1112Pro)
c.3350T>C (p.Leu1117Pro)
c.3356T>C (p.Leu1119Pro)
c.3278T>C (p.Leu1093Pro)
c.3248T>C (p.Leu1083Pro)
c.3548T>C (p.Leu1183Pro)
c.3557T>C (p.Leu1186Pro)
c.2903T>C (p.Leu968Pro)
c.3347T>C (p.Leu1116Pro)
 gnomAD v4
9g.135786432T>GCA375492082KCNT1c.3413T>G (p.Leu1138Arg)
c.3254T>G (p.Leu1085Arg)
c.3161T>G (p.Leu1054Arg)
c.3170T>G (p.Leu1057Arg)
c.3314T>G (p.Leu1105Arg)
c.*3023T>G (n.*3023T>G)
c.3296T>G (p.Leu1099Arg)
c.3335T>G (p.Leu1112Arg)
c.3350T>G (p.Leu1117Arg)
c.3356T>G (p.Leu1119Arg)
c.3278T>G (p.Leu1093Arg)
c.3248T>G (p.Leu1083Arg)
c.3548T>G (p.Leu1183Arg)
c.3557T>G (p.Leu1186Arg)
c.2903T>G (p.Leu968Arg)
c.3347T>G (p.Leu1116Arg)
9g.135786433C>ACA467821290KCNT1c.3414C>A (p.Leu1138=)
c.3255C>A (p.Leu1085=)
c.3162C>A (p.Leu1054=)
c.3171C>A (p.Leu1057=)
c.3315C>A (p.Leu1105=)
c.*3024C>A (n.*3024C>A)
c.3297C>A (p.Leu1099=)
c.3336C>A (p.Leu1112=)
c.3351C>A (p.Leu1117=)
c.3357C>A (p.Leu1119=)
c.3279C>A (p.Leu1093=)
c.3249C>A (p.Leu1083=)
c.3549C>A (p.Leu1183=)
c.3558C>A (p.Leu1186=)
c.2904C>A (p.Leu968=)
c.3348C>A (p.Leu1116=)
 gnomAD v4
9g.135786433C>GCA467821291KCNT1c.3414C>G (p.Leu1138=)
c.3255C>G (p.Leu1085=)
c.3162C>G (p.Leu1054=)
c.3171C>G (p.Leu1057=)
c.3315C>G (p.Leu1105=)
c.*3024C>G (n.*3024C>G)
c.3297C>G (p.Leu1099=)
c.3336C>G (p.Leu1112=)
c.3351C>G (p.Leu1117=)
c.3357C>G (p.Leu1119=)
c.3279C>G (p.Leu1093=)
c.3249C>G (p.Leu1083=)
c.3549C>G (p.Leu1183=)
c.3558C>G (p.Leu1186=)
c.2904C>G (p.Leu968=)
c.3348C>G (p.Leu1116=)
9g.135786433C>TCA467821292KCNT1c.3414C>T (p.Leu1138=)
c.3255C>T (p.Leu1085=)
c.3162C>T (p.Leu1054=)
c.3171C>T (p.Leu1057=)
c.3315C>T (p.Leu1105=)
c.*3024C>T (n.*3024C>T)
c.3297C>T (p.Leu1099=)
c.3336C>T (p.Leu1112=)
c.3351C>T (p.Leu1117=)
c.3357C>T (p.Leu1119=)
c.3279C>T (p.Leu1093=)
c.3249C>T (p.Leu1083=)
c.3549C>T (p.Leu1183=)
c.3558C>T (p.Leu1186=)
c.2904C>T (p.Leu968=)
c.3348C>T (p.Leu1116=)
9g.135786434A=CA1883888312KCNT1c.3415A= (p.Ser1139=)
c.3256A= (p.Ser1086=)
c.3163A= (p.Ser1055=)
c.3172A= (p.Ser1058=)
c.3316A= (p.Ser1106=)
c.*3025A= (n.*3025A=)
c.3298A= (p.Ser1100=)
c.3337A= (p.Ser1113=)
c.3352A= (p.Ser1118=)
c.3358A= (p.Ser1120=)
c.3280A= (p.Ser1094=)
c.3250A= (p.Ser1084=)
c.3550A= (p.Ser1184=)
c.3559A= (p.Ser1187=)
c.2905A= (p.Ser969=)
c.3349A= (p.Ser1117=)
9g.135786434A>CCA375492085KCNT1c.3415A>C (p.Ser1139Arg)
c.3256A>C (p.Ser1086Arg)
c.3163A>C (p.Ser1055Arg)
c.3172A>C (p.Ser1058Arg)
c.3316A>C (p.Ser1106Arg)
c.*3025A>C (n.*3025A>C)
c.3298A>C (p.Ser1100Arg)
c.3337A>C (p.Ser1113Arg)
c.3352A>C (p.Ser1118Arg)
c.3358A>C (p.Ser1120Arg)
c.3280A>C (p.Ser1094Arg)
c.3250A>C (p.Ser1084Arg)
c.3550A>C (p.Ser1184Arg)
c.3559A>C (p.Ser1187Arg)
c.2905A>C (p.Ser969Arg)
c.3349A>C (p.Ser1117Arg)
9g.135786434A>GCA375492089KCNT1c.3415A>G (p.Ser1139Gly)
c.3256A>G (p.Ser1086Gly)
c.3163A>G (p.Ser1055Gly)
c.3172A>G (p.Ser1058Gly)
c.3316A>G (p.Ser1106Gly)
c.*3025A>G (n.*3025A>G)
c.3298A>G (p.Ser1100Gly)
c.3337A>G (p.Ser1113Gly)
c.3352A>G (p.Ser1118Gly)
c.3358A>G (p.Ser1120Gly)
c.3280A>G (p.Ser1094Gly)
c.3250A>G (p.Ser1084Gly)
c.3550A>G (p.Ser1184Gly)
c.3559A>G (p.Ser1187Gly)
c.2905A>G (p.Ser969Gly)
c.3349A>G (p.Ser1117Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135786434A>TCA375492086KCNT1c.3415A>T (p.Ser1139Cys)
c.3256A>T (p.Ser1086Cys)
c.3163A>T (p.Ser1055Cys)
c.3172A>T (p.Ser1058Cys)
c.3316A>T (p.Ser1106Cys)
c.*3025A>T (n.*3025A>T)
c.3298A>T (p.Ser1100Cys)
c.3337A>T (p.Ser1113Cys)
c.3352A>T (p.Ser1118Cys)
c.3358A>T (p.Ser1120Cys)
c.3280A>T (p.Ser1094Cys)
c.3250A>T (p.Ser1084Cys)
c.3550A>T (p.Ser1184Cys)
c.3559A>T (p.Ser1187Cys)
c.2905A>T (p.Ser969Cys)
c.3349A>T (p.Ser1117Cys)
9g.135786435G>ACA375492093KCNT1c.3416G>A (p.Ser1139Asn)
c.3257G>A (p.Ser1086Asn)
c.3164G>A (p.Ser1055Asn)
c.3173G>A (p.Ser1058Asn)
c.3317G>A (p.Ser1106Asn)
c.*3026G>A (n.*3026G>A)
c.3299G>A (p.Ser1100Asn)
c.3338G>A (p.Ser1113Asn)
c.3353G>A (p.Ser1118Asn)
c.3359G>A (p.Ser1120Asn)
c.3281G>A (p.Ser1094Asn)
c.3251G>A (p.Ser1084Asn)
c.3551G>A (p.Ser1184Asn)
c.3560G>A (p.Ser1187Asn)
c.2906G>A (p.Ser969Asn)
c.3350G>A (p.Ser1117Asn)
9g.135786435G>CCA375492095KCNT1c.3416G>C (p.Ser1139Thr)
c.3257G>C (p.Ser1086Thr)
c.3164G>C (p.Ser1055Thr)
c.3173G>C (p.Ser1058Thr)
c.3317G>C (p.Ser1106Thr)
c.*3026G>C (n.*3026G>C)
c.3299G>C (p.Ser1100Thr)
c.3338G>C (p.Ser1113Thr)
c.3353G>C (p.Ser1118Thr)
c.3359G>C (p.Ser1120Thr)
c.3281G>C (p.Ser1094Thr)
c.3251G>C (p.Ser1084Thr)
c.3551G>C (p.Ser1184Thr)
c.3560G>C (p.Ser1187Thr)
c.2906G>C (p.Ser969Thr)
c.3350G>C (p.Ser1117Thr)
 gnomAD v4
9g.135786435G>TCA375492098KCNT1c.3416G>T (p.Ser1139Ile)
c.3257G>T (p.Ser1086Ile)
c.3164G>T (p.Ser1055Ile)
c.3173G>T (p.Ser1058Ile)
c.3317G>T (p.Ser1106Ile)
c.*3026G>T (n.*3026G>T)
c.3299G>T (p.Ser1100Ile)
c.3338G>T (p.Ser1113Ile)
c.3353G>T (p.Ser1118Ile)
c.3359G>T (p.Ser1120Ile)
c.3281G>T (p.Ser1094Ile)
c.3251G>T (p.Ser1084Ile)
c.3551G>T (p.Ser1184Ile)
c.3560G>T (p.Ser1187Ile)
c.2906G>T (p.Ser969Ile)
c.3350G>T (p.Ser1117Ile)
 gnomAD v4
9g.135786435_135786436dupCA2692525747KCNT1c.3416_3417dup (p.Leu1140AlafsTer15)
c.3257_3258dup (p.Leu1087AlafsTer15)
c.3164_3165dup (p.Leu1056AlafsTer15)
c.3173_3174dup (p.Leu1059AlafsTer15)
c.3317_3318dup (p.Leu1107AlafsTer15)
c.*3026_*3027dup (n.*3026_*3027dup)
c.3299_3300dup (p.Leu1101AlafsTer15)
c.3338_3339dup (p.Leu1114AlafsTer15)
c.3353_3354dup (p.Leu1119AlafsTer15)
c.3359_3360dup (p.Leu1121AlafsTer15)
c.3281_3282dup (p.Leu1095AlafsTer15)
c.3251_3252dup (p.Leu1085AlafsTer15)
c.3551_3552dup (p.Leu1185AlafsTer15)
c.3560_3561dup (p.Leu1188AlafsTer15)
c.2906_2907dup (p.Leu970AlafsTer15)
c.3350_3351dup (p.Leu1118AlafsTer15)
 gnomAD v4
9g.135786436C>ACA375492101KCNT1c.3417C>A (p.Ser1139Arg)
c.3258C>A (p.Ser1086Arg)
c.3165C>A (p.Ser1055Arg)
c.3174C>A (p.Ser1058Arg)
c.3318C>A (p.Ser1106Arg)
c.*3027C>A (n.*3027C>A)
c.3300C>A (p.Ser1100Arg)
c.3339C>A (p.Ser1113Arg)
c.3354C>A (p.Ser1118Arg)
c.3360C>A (p.Ser1120Arg)
c.3282C>A (p.Ser1094Arg)
c.3252C>A (p.Ser1084Arg)
c.3552C>A (p.Ser1184Arg)
c.3561C>A (p.Ser1187Arg)
c.2907C>A (p.Ser969Arg)
c.3351C>A (p.Ser1117Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.135786436C=CA1883888314KCNT1c.3417C= (p.Ser1139=)
c.3258C= (p.Ser1086=)
c.3165C= (p.Ser1055=)
c.3174C= (p.Ser1058=)
c.3318C= (p.Ser1106=)
c.*3027C= (n.*3027C=)
c.3300C= (p.Ser1100=)
c.3339C= (p.Ser1113=)
c.3354C= (p.Ser1118=)
c.3360C= (p.Ser1120=)
c.3282C= (p.Ser1094=)
c.3252C= (p.Ser1084=)
c.3552C= (p.Ser1184=)
c.3561C= (p.Ser1187=)
c.2907C= (p.Ser969=)
c.3351C= (p.Ser1117=)
9g.135786436C>GCA375492103KCNT1c.3417C>G (p.Ser1139Arg)
c.3258C>G (p.Ser1086Arg)
c.3165C>G (p.Ser1055Arg)
c.3174C>G (p.Ser1058Arg)
c.3318C>G (p.Ser1106Arg)
c.*3027C>G (n.*3027C>G)
c.3300C>G (p.Ser1100Arg)
c.3339C>G (p.Ser1113Arg)
c.3354C>G (p.Ser1118Arg)
c.3360C>G (p.Ser1120Arg)
c.3282C>G (p.Ser1094Arg)
c.3252C>G (p.Ser1084Arg)
c.3552C>G (p.Ser1184Arg)
c.3561C>G (p.Ser1187Arg)
c.2907C>G (p.Ser969Arg)
c.3351C>G (p.Ser1117Arg)
9g.135786436C>TCA467821293KCNT1c.3417C>T (p.Ser1139=)
c.3258C>T (p.Ser1086=)
c.3165C>T (p.Ser1055=)
c.3174C>T (p.Ser1058=)
c.3318C>T (p.Ser1106=)
c.*3027C>T (n.*3027C>T)
c.3300C>T (p.Ser1100=)
c.3339C>T (p.Ser1113=)
c.3354C>T (p.Ser1118=)
c.3360C>T (p.Ser1120=)
c.3282C>T (p.Ser1094=)
c.3252C>T (p.Ser1084=)
c.3552C>T (p.Ser1184=)
c.3561C>T (p.Ser1187=)
c.2907C>T (p.Ser969=)
c.3351C>T (p.Ser1117=)
 ClinVar
9g.135786437C>ACA375492106KCNT1c.3418C>A (p.Leu1140Met)
c.3259C>A (p.Leu1087Met)
c.3166C>A (p.Leu1056Met)
c.3175C>A (p.Leu1059Met)
c.3319C>A (p.Leu1107Met)
c.*3028C>A (n.*3028C>A)
c.3301C>A (p.Leu1101Met)
c.3340C>A (p.Leu1114Met)
c.3355C>A (p.Leu1119Met)
c.3361C>A (p.Leu1121Met)
c.3283C>A (p.Leu1095Met)
c.3253C>A (p.Leu1085Met)
c.3553C>A (p.Leu1185Met)
c.3562C>A (p.Leu1188Met)
c.2908C>A (p.Leu970Met)
c.3352C>A (p.Leu1118Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.135786437C=CA1883888320KCNT1c.3418C= (p.Leu1140=)
c.3259C= (p.Leu1087=)
c.3166C= (p.Leu1056=)
c.3175C= (p.Leu1059=)
c.3319C= (p.Leu1107=)
c.*3028C= (n.*3028C=)
c.3301C= (p.Leu1101=)
c.3340C= (p.Leu1114=)
c.3355C= (p.Leu1119=)
c.3361C= (p.Leu1121=)
c.3283C= (p.Leu1095=)
c.3253C= (p.Leu1085=)
c.3553C= (p.Leu1185=)
c.3562C= (p.Leu1188=)
c.2908C= (p.Leu970=)
c.3352C= (p.Leu1118=)
9g.135786437C>GCA375492109KCNT1c.3418C>G (p.Leu1140Val)
c.3259C>G (p.Leu1087Val)
c.3166C>G (p.Leu1056Val)
c.3175C>G (p.Leu1059Val)
c.3319C>G (p.Leu1107Val)
c.*3028C>G (n.*3028C>G)
c.3301C>G (p.Leu1101Val)
c.3340C>G (p.Leu1114Val)
c.3355C>G (p.Leu1119Val)
c.3361C>G (p.Leu1121Val)
c.3283C>G (p.Leu1095Val)
c.3253C>G (p.Leu1085Val)
c.3553C>G (p.Leu1185Val)
c.3562C>G (p.Leu1188Val)
c.2908C>G (p.Leu970Val)
c.3352C>G (p.Leu1118Val)
9g.135786437C>TCA467821294KCNT1c.3418C>T (p.Leu1140=)
c.3259C>T (p.Leu1087=)
c.3166C>T (p.Leu1056=)
c.3175C>T (p.Leu1059=)
c.3319C>T (p.Leu1107=)
c.*3028C>T (n.*3028C>T)
c.3301C>T (p.Leu1101=)
c.3340C>T (p.Leu1114=)
c.3355C>T (p.Leu1119=)
c.3361C>T (p.Leu1121=)
c.3283C>T (p.Leu1095=)
c.3253C>T (p.Leu1085=)
c.3553C>T (p.Leu1185=)
c.3562C>T (p.Leu1188=)
c.2908C>T (p.Leu970=)
c.3352C>T (p.Leu1118=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.135786438T>ACA5327810KCNT1c.3419T>A (p.Leu1140Gln)
c.3260T>A (p.Leu1087Gln)
c.3167T>A (p.Leu1056Gln)
c.3176T>A (p.Leu1059Gln)
c.3320T>A (p.Leu1107Gln)
c.*3029T>A (n.*3029T>A)
c.3302T>A (p.Leu1101Gln)
c.3341T>A (p.Leu1114Gln)
c.3356T>A (p.Leu1119Gln)
c.3362T>A (p.Leu1121Gln)
c.3284T>A (p.Leu1095Gln)
c.3254T>A (p.Leu1085Gln)
c.3554T>A (p.Leu1185Gln)
c.3563T>A (p.Leu1188Gln)
c.2909T>A (p.Leu970Gln)
c.3353T>A (p.Leu1118Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135786438T>CCA375492110KCNT1c.3419T>C (p.Leu1140Pro)
c.3260T>C (p.Leu1087Pro)
c.3167T>C (p.Leu1056Pro)
c.3176T>C (p.Leu1059Pro)
c.3320T>C (p.Leu1107Pro)
c.*3029T>C (n.*3029T>C)
c.3302T>C (p.Leu1101Pro)
c.3341T>C (p.Leu1114Pro)
c.3356T>C (p.Leu1119Pro)
c.3362T>C (p.Leu1121Pro)
c.3284T>C (p.Leu1095Pro)
c.3254T>C (p.Leu1085Pro)
c.3554T>C (p.Leu1185Pro)
c.3563T>C (p.Leu1188Pro)
c.2909T>C (p.Leu970Pro)
c.3353T>C (p.Leu1118Pro)
 gnomAD v4
9g.135786438T>GCA375492111KCNT1c.3419T>G (p.Leu1140Arg)
c.3260T>G (p.Leu1087Arg)
c.3167T>G (p.Leu1056Arg)
c.3176T>G (p.Leu1059Arg)
c.3320T>G (p.Leu1107Arg)
c.*3029T>G (n.*3029T>G)
c.3302T>G (p.Leu1101Arg)
c.3341T>G (p.Leu1114Arg)
c.3356T>G (p.Leu1119Arg)
c.3362T>G (p.Leu1121Arg)
c.3284T>G (p.Leu1095Arg)
c.3254T>G (p.Leu1085Arg)
c.3554T>G (p.Leu1185Arg)
c.3563T>G (p.Leu1188Arg)
c.2909T>G (p.Leu970Arg)
c.3353T>G (p.Leu1118Arg)
 gnomAD v4
9g.135786438T=CA1883888324KCNT1c.3419T= (p.Leu1140=)
c.3260T= (p.Leu1087=)
c.3167T= (p.Leu1056=)
c.3176T= (p.Leu1059=)
c.3320T= (p.Leu1107=)
c.*3029T= (n.*3029T=)
c.3302T= (p.Leu1101=)
c.3341T= (p.Leu1114=)
c.3356T= (p.Leu1119=)
c.3362T= (p.Leu1121=)
c.3284T= (p.Leu1095=)
c.3254T= (p.Leu1085=)
c.3554T= (p.Leu1185=)
c.3563T= (p.Leu1188=)
c.2909T= (p.Leu970=)
c.3353T= (p.Leu1118=)
9g.135786439G>ACA5327811KCNT1c.3420G>A (p.Leu1140=)
c.3261G>A (p.Leu1087=)
c.3168G>A (p.Leu1056=)
c.3177G>A (p.Leu1059=)
c.3321G>A (p.Leu1107=)
c.*3030G>A (n.*3030G>A)
c.3303G>A (p.Leu1101=)
c.3342G>A (p.Leu1114=)
c.3357G>A (p.Leu1119=)
c.3363G>A (p.Leu1121=)
c.3285G>A (p.Leu1095=)
c.3255G>A (p.Leu1085=)
c.3555G>A (p.Leu1185=)
c.3564G>A (p.Leu1188=)
c.2910G>A (p.Leu970=)
c.3354G>A (p.Leu1118=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786439G>CCA467821295KCNT1c.3420G>C (p.Leu1140=)
c.3261G>C (p.Leu1087=)
c.3168G>C (p.Leu1056=)
c.3177G>C (p.Leu1059=)
c.3321G>C (p.Leu1107=)
c.*3030G>C (n.*3030G>C)
c.3303G>C (p.Leu1101=)
c.3342G>C (p.Leu1114=)
c.3357G>C (p.Leu1119=)
c.3363G>C (p.Leu1121=)
c.3285G>C (p.Leu1095=)
c.3255G>C (p.Leu1085=)
c.3555G>C (p.Leu1185=)
c.3564G>C (p.Leu1188=)
c.2910G>C (p.Leu970=)
c.3354G>C (p.Leu1118=)
9g.135786439G=CA1883888327KCNT1c.3420G= (p.Leu1140=)
c.3261G= (p.Leu1087=)
c.3168G= (p.Leu1056=)
c.3177G= (p.Leu1059=)
c.3321G= (p.Leu1107=)
c.*3030G= (n.*3030G=)
c.3303G= (p.Leu1101=)
c.3342G= (p.Leu1114=)
c.3357G= (p.Leu1119=)
c.3363G= (p.Leu1121=)
c.3285G= (p.Leu1095=)
c.3255G= (p.Leu1085=)
c.3555G= (p.Leu1185=)
c.3564G= (p.Leu1188=)
c.2910G= (p.Leu970=)
c.3354G= (p.Leu1118=)
9g.135786439G>TCA467821296KCNT1c.3420G>T (p.Leu1140=)
c.3261G>T (p.Leu1087=)
c.3168G>T (p.Leu1056=)
c.3177G>T (p.Leu1059=)
c.3321G>T (p.Leu1107=)
c.*3030G>T (n.*3030G>T)
c.3303G>T (p.Leu1101=)
c.3342G>T (p.Leu1114=)
c.3357G>T (p.Leu1119=)
c.3363G>T (p.Leu1121=)
c.3285G>T (p.Leu1095=)
c.3255G>T (p.Leu1085=)
c.3555G>T (p.Leu1185=)
c.3564G>T (p.Leu1188=)
c.2910G>T (p.Leu970=)
c.3354G>T (p.Leu1118=)
 gnomAD v4
9g.135786440T>ACA375492116KCNT1c.3421T>A (p.Tyr1141Asn)
c.3262T>A (p.Tyr1088Asn)
c.3169T>A (p.Tyr1057Asn)
c.3178T>A (p.Tyr1060Asn)
c.3322T>A (p.Tyr1108Asn)
c.*3031T>A (n.*3031T>A)
c.3304T>A (p.Tyr1102Asn)
c.3343T>A (p.Tyr1115Asn)
c.3358T>A (p.Tyr1120Asn)
c.3364T>A (p.Tyr1122Asn)
c.3286T>A (p.Tyr1096Asn)
c.3256T>A (p.Tyr1086Asn)
c.3556T>A (p.Tyr1186Asn)
c.3565T>A (p.Tyr1189Asn)
c.2911T>A (p.Tyr971Asn)
c.3355T>A (p.Tyr1119Asn)
9g.135786440T>CCA375492122KCNT1c.3421T>C (p.Tyr1141His)
c.3262T>C (p.Tyr1088His)
c.3169T>C (p.Tyr1057His)
c.3178T>C (p.Tyr1060His)
c.3322T>C (p.Tyr1108His)
c.*3031T>C (n.*3031T>C)
c.3304T>C (p.Tyr1102His)
c.3343T>C (p.Tyr1115His)
c.3358T>C (p.Tyr1120His)
c.3364T>C (p.Tyr1122His)
c.3286T>C (p.Tyr1096His)
c.3256T>C (p.Tyr1086His)
c.3556T>C (p.Tyr1186His)
c.3565T>C (p.Tyr1189His)
c.2911T>C (p.Tyr971His)
c.3355T>C (p.Tyr1119His)
 gnomAD v4
9g.135786440T>GCA375492119KCNT1c.3421T>G (p.Tyr1141Asp)
c.3262T>G (p.Tyr1088Asp)
c.3169T>G (p.Tyr1057Asp)
c.3178T>G (p.Tyr1060Asp)
c.3322T>G (p.Tyr1108Asp)
c.*3031T>G (n.*3031T>G)
c.3304T>G (p.Tyr1102Asp)
c.3343T>G (p.Tyr1115Asp)
c.3358T>G (p.Tyr1120Asp)
c.3364T>G (p.Tyr1122Asp)
c.3286T>G (p.Tyr1096Asp)
c.3256T>G (p.Tyr1086Asp)
c.3556T>G (p.Tyr1186Asp)
c.3565T>G (p.Tyr1189Asp)
c.2911T>G (p.Tyr971Asp)
c.3355T>G (p.Tyr1119Asp)
9g.135786440T=CA1883888331KCNT1c.3421T= (p.Tyr1141=)
c.3262T= (p.Tyr1088=)
c.3169T= (p.Tyr1057=)
c.3178T= (p.Tyr1060=)
c.3322T= (p.Tyr1108=)
c.*3031T= (n.*3031T=)
c.3304T= (p.Tyr1102=)
c.3343T= (p.Tyr1115=)
c.3358T= (p.Tyr1120=)
c.3364T= (p.Tyr1122=)
c.3286T= (p.Tyr1096=)
c.3256T= (p.Tyr1086=)
c.3556T= (p.Tyr1186=)
c.3565T= (p.Tyr1189=)
c.2911T= (p.Tyr971=)
c.3355T= (p.Tyr1119=)
9g.135786441A=CA1883888337KCNT1c.3422A= (p.Tyr1141=)
c.3263A= (p.Tyr1088=)
c.3170A= (p.Tyr1057=)
c.3179A= (p.Tyr1060=)
c.3323A= (p.Tyr1108=)
c.*3032A= (n.*3032A=)
c.3305A= (p.Tyr1102=)
c.3344A= (p.Tyr1115=)
c.3359A= (p.Tyr1120=)
c.3365A= (p.Tyr1122=)
c.3287A= (p.Tyr1096=)
c.3257A= (p.Tyr1086=)
c.3557A= (p.Tyr1186=)
c.3566A= (p.Tyr1189=)
c.2912A= (p.Tyr971=)
c.3356A= (p.Tyr1119=)
9g.135786441A>CCA375492127KCNT1c.3422A>C (p.Tyr1141Ser)
c.3263A>C (p.Tyr1088Ser)
c.3170A>C (p.Tyr1057Ser)
c.3179A>C (p.Tyr1060Ser)
c.3323A>C (p.Tyr1108Ser)
c.*3032A>C (n.*3032A>C)
c.3305A>C (p.Tyr1102Ser)
c.3344A>C (p.Tyr1115Ser)
c.3359A>C (p.Tyr1120Ser)
c.3365A>C (p.Tyr1122Ser)
c.3287A>C (p.Tyr1096Ser)
c.3257A>C (p.Tyr1086Ser)
c.3557A>C (p.Tyr1186Ser)
c.3566A>C (p.Tyr1189Ser)
c.2912A>C (p.Tyr971Ser)
c.3356A>C (p.Tyr1119Ser)
9g.135786441A>GCA375492129KCNT1c.3422A>G (p.Tyr1141Cys)
c.3263A>G (p.Tyr1088Cys)
c.3170A>G (p.Tyr1057Cys)
c.3179A>G (p.Tyr1060Cys)
c.3323A>G (p.Tyr1108Cys)
c.*3032A>G (n.*3032A>G)
c.3305A>G (p.Tyr1102Cys)
c.3344A>G (p.Tyr1115Cys)
c.3359A>G (p.Tyr1120Cys)
c.3365A>G (p.Tyr1122Cys)
c.3287A>G (p.Tyr1096Cys)
c.3257A>G (p.Tyr1086Cys)
c.3557A>G (p.Tyr1186Cys)
c.3566A>G (p.Tyr1189Cys)
c.2912A>G (p.Tyr971Cys)
c.3356A>G (p.Tyr1119Cys)
 dbSNP gnomAD v2 gnomAD v4
9g.135786441A>TCA375492131KCNT1c.3422A>T (p.Tyr1141Phe)
c.3263A>T (p.Tyr1088Phe)
c.3170A>T (p.Tyr1057Phe)
c.3179A>T (p.Tyr1060Phe)
c.3323A>T (p.Tyr1108Phe)
c.*3032A>T (n.*3032A>T)
c.3305A>T (p.Tyr1102Phe)
c.3344A>T (p.Tyr1115Phe)
c.3359A>T (p.Tyr1120Phe)
c.3365A>T (p.Tyr1122Phe)
c.3287A>T (p.Tyr1096Phe)
c.3257A>T (p.Tyr1086Phe)
c.3557A>T (p.Tyr1186Phe)
c.3566A>T (p.Tyr1189Phe)
c.2912A>T (p.Tyr971Phe)
c.3356A>T (p.Tyr1119Phe)
9g.135786441dupCA5327812KCNT1c.3422dup (p.Tyr1141Ter)
c.3263dup (p.Tyr1088Ter)
c.3170dup (p.Tyr1057Ter)
c.3179dup (p.Tyr1060Ter)
c.3323dup (p.Tyr1108Ter)
c.*3032dup (n.*3032dup)
c.3305dup (p.Tyr1102Ter)
c.3344dup (p.Tyr1115Ter)
c.3359dup (p.Tyr1120Ter)
c.3365dup (p.Tyr1122Ter)
c.3287dup (p.Tyr1096Ter)
c.3257dup (p.Tyr1086Ter)
c.3557dup (p.Tyr1186Ter)
c.3566dup (p.Tyr1189Ter)
c.2912dup (p.Tyr971Ter)
c.3356dup (p.Tyr1119Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135786442C>ACA375492134KCNT1c.3423C>A (p.Tyr1141Ter)
c.3264C>A (p.Tyr1088Ter)
c.3171C>A (p.Tyr1057Ter)
c.3180C>A (p.Tyr1060Ter)
c.3324C>A (p.Tyr1108Ter)
c.*3033C>A (n.*3033C>A)
c.3306C>A (p.Tyr1102Ter)
c.3345C>A (p.Tyr1115Ter)
c.3360C>A (p.Tyr1120Ter)
c.3366C>A (p.Tyr1122Ter)
c.3288C>A (p.Tyr1096Ter)
c.3258C>A (p.Tyr1086Ter)
c.3558C>A (p.Tyr1186Ter)
c.3567C>A (p.Tyr1189Ter)
c.2913C>A (p.Tyr971Ter)
c.3357C>A (p.Tyr1119Ter)
 gnomAD v4
9g.135786442C>GCA375492136KCNT1c.3423C>G (p.Tyr1141Ter)
c.3264C>G (p.Tyr1088Ter)
c.3171C>G (p.Tyr1057Ter)
c.3180C>G (p.Tyr1060Ter)
c.3324C>G (p.Tyr1108Ter)
c.*3033C>G (n.*3033C>G)
c.3306C>G (p.Tyr1102Ter)
c.3345C>G (p.Tyr1115Ter)
c.3360C>G (p.Tyr1120Ter)
c.3366C>G (p.Tyr1122Ter)
c.3288C>G (p.Tyr1096Ter)
c.3258C>G (p.Tyr1086Ter)
c.3558C>G (p.Tyr1186Ter)
c.3567C>G (p.Tyr1189Ter)
c.2913C>G (p.Tyr971Ter)
c.3357C>G (p.Tyr1119Ter)
9g.135786442C>TCA467821297KCNT1c.3423C>T (p.Tyr1141=)
c.3264C>T (p.Tyr1088=)
c.3171C>T (p.Tyr1057=)
c.3180C>T (p.Tyr1060=)
c.3324C>T (p.Tyr1108=)
c.*3033C>T (n.*3033C>T)
c.3306C>T (p.Tyr1102=)
c.3345C>T (p.Tyr1115=)
c.3360C>T (p.Tyr1120=)
c.3366C>T (p.Tyr1122=)
c.3288C>T (p.Tyr1096=)
c.3258C>T (p.Tyr1086=)
c.3558C>T (p.Tyr1186=)
c.3567C>T (p.Tyr1189=)
c.2913C>T (p.Tyr971=)
c.3357C>T (p.Tyr1119=)
 gnomAD v4
9g.135786442_135786443delinsTTCA645541871KCNT1c.3423_3424delinsTT (p.Arg1142Trp)
c.3264_3265delinsTT (p.Arg1089Trp)
c.3171_3172delinsTT (p.Arg1058Trp)
c.3180_3181delinsTT (p.Arg1061Trp)
c.3324_3325delinsTT (p.Arg1109Trp)
c.*3033_*3034delinsTT (n.*3033_*3034delinsTT)
c.3306_3307delinsTT (p.Arg1103Trp)
c.3345_3346delinsTT (p.Arg1116Trp)
c.3360_3361delinsTT (p.Arg1121Trp)
c.3366_3367delinsTT (p.Arg1123Trp)
c.3288_3289delinsTT (p.Arg1097Trp)
c.3258_3259delinsTT (p.Arg1087Trp)
c.3558_3559delinsTT (p.Arg1187Trp)
c.3567_3568delinsTT (p.Arg1190Trp)
c.2913_2914delinsTT (p.Arg972Trp)
c.3357_3358delinsTT (p.Arg1120Trp)
 COSMIC COSMIC
9g.135786443C>ACA467821298KCNT1c.3424C>A (p.Arg1142=)
c.3265C>A (p.Arg1089=)
c.3172C>A (p.Arg1058=)
c.3181C>A (p.Arg1061=)
c.3325C>A (p.Arg1109=)
c.*3034C>A (n.*3034C>A)
c.3307C>A (p.Arg1103=)
c.3346C>A (p.Arg1116=)
c.3361C>A (p.Arg1121=)
c.3367C>A (p.Arg1123=)
c.3289C>A (p.Arg1097=)
c.3259C>A (p.Arg1087=)
c.3559C>A (p.Arg1187=)
c.3568C>A (p.Arg1190=)
c.2914C>A (p.Arg972=)
c.3358C>A (p.Arg1120=)
 gnomAD v4 COSMIC COSMIC
9g.135786443C=CA1883888342KCNT1c.3424C= (p.Arg1142=)
c.3265C= (p.Arg1089=)
c.3172C= (p.Arg1058=)
c.3181C= (p.Arg1061=)
c.3325C= (p.Arg1109=)
c.*3034C= (n.*3034C=)
c.3307C= (p.Arg1103=)
c.3346C= (p.Arg1116=)
c.3361C= (p.Arg1121=)
c.3367C= (p.Arg1123=)
c.3289C= (p.Arg1097=)
c.3259C= (p.Arg1087=)
c.3559C= (p.Arg1187=)
c.3568C= (p.Arg1190=)
c.2914C= (p.Arg972=)
c.3358C= (p.Arg1120=)
9g.135786443C>GCA375492139KCNT1c.3424C>G (p.Arg1142Gly)
c.3265C>G (p.Arg1089Gly)
c.3172C>G (p.Arg1058Gly)
c.3181C>G (p.Arg1061Gly)
c.3325C>G (p.Arg1109Gly)
c.*3034C>G (n.*3034C>G)
c.3307C>G (p.Arg1103Gly)
c.3346C>G (p.Arg1116Gly)
c.3361C>G (p.Arg1121Gly)
c.3367C>G (p.Arg1123Gly)
c.3289C>G (p.Arg1097Gly)
c.3259C>G (p.Arg1087Gly)
c.3559C>G (p.Arg1187Gly)
c.3568C>G (p.Arg1190Gly)
c.2914C>G (p.Arg972Gly)
c.3358C>G (p.Arg1120Gly)
9g.135786443C>TCA5327813KCNT1c.3424C>T (p.Arg1142Trp)
c.3265C>T (p.Arg1089Trp)
c.3172C>T (p.Arg1058Trp)
c.3181C>T (p.Arg1061Trp)
c.3325C>T (p.Arg1109Trp)
c.*3034C>T (n.*3034C>T)
c.3307C>T (p.Arg1103Trp)
c.3346C>T (p.Arg1116Trp)
c.3361C>T (p.Arg1121Trp)
c.3367C>T (p.Arg1123Trp)
c.3289C>T (p.Arg1097Trp)
c.3259C>T (p.Arg1087Trp)
c.3559C>T (p.Arg1187Trp)
c.3568C>T (p.Arg1190Trp)
c.2914C>T (p.Arg972Trp)
c.3358C>T (p.Arg1120Trp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786444G>ACA5327814KCNT1c.3425G>A (p.Arg1142Gln)
c.3266G>A (p.Arg1089Gln)
c.3173G>A (p.Arg1058Gln)
c.3182G>A (p.Arg1061Gln)
c.3326G>A (p.Arg1109Gln)
c.*3035G>A (n.*3035G>A)
c.3308G>A (p.Arg1103Gln)
c.3347G>A (p.Arg1116Gln)
c.3362G>A (p.Arg1121Gln)
c.3368G>A (p.Arg1123Gln)
c.3290G>A (p.Arg1097Gln)
c.3260G>A (p.Arg1087Gln)
c.3560G>A (p.Arg1187Gln)
c.3569G>A (p.Arg1190Gln)
c.2915G>A (p.Arg972Gln)
c.3359G>A (p.Arg1120Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786444G>CCA375492143KCNT1c.3425G>C (p.Arg1142Pro)
c.3266G>C (p.Arg1089Pro)
c.3173G>C (p.Arg1058Pro)
c.3182G>C (p.Arg1061Pro)
c.3326G>C (p.Arg1109Pro)
c.*3035G>C (n.*3035G>C)
c.3308G>C (p.Arg1103Pro)
c.3347G>C (p.Arg1116Pro)
c.3362G>C (p.Arg1121Pro)
c.3368G>C (p.Arg1123Pro)
c.3290G>C (p.Arg1097Pro)
c.3260G>C (p.Arg1087Pro)
c.3560G>C (p.Arg1187Pro)
c.3569G>C (p.Arg1190Pro)
c.2915G>C (p.Arg972Pro)
c.3359G>C (p.Arg1120Pro)
 ClinVar gnomAD v4
9g.135786444G=CA1883888349KCNT1c.3425G= (p.Arg1142=)
c.3266G= (p.Arg1089=)
c.3173G= (p.Arg1058=)
c.3182G= (p.Arg1061=)
c.3326G= (p.Arg1109=)
c.*3035G= (n.*3035G=)
c.3308G= (p.Arg1103=)
c.3347G= (p.Arg1116=)
c.3362G= (p.Arg1121=)
c.3368G= (p.Arg1123=)
c.3290G= (p.Arg1097=)
c.3260G= (p.Arg1087=)
c.3560G= (p.Arg1187=)
c.3569G= (p.Arg1190=)
c.2915G= (p.Arg972=)
c.3359G= (p.Arg1120=)
9g.135786444G>TCA375492146KCNT1c.3425G>T (p.Arg1142Leu)
c.3266G>T (p.Arg1089Leu)
c.3173G>T (p.Arg1058Leu)
c.3182G>T (p.Arg1061Leu)
c.3326G>T (p.Arg1109Leu)
c.*3035G>T (n.*3035G>T)
c.3308G>T (p.Arg1103Leu)
c.3347G>T (p.Arg1116Leu)
c.3362G>T (p.Arg1121Leu)
c.3368G>T (p.Arg1123Leu)
c.3290G>T (p.Arg1097Leu)
c.3260G>T (p.Arg1087Leu)
c.3560G>T (p.Arg1187Leu)
c.3569G>T (p.Arg1190Leu)
c.2915G>T (p.Arg972Leu)
c.3359G>T (p.Arg1120Leu)
 dbSNP gnomAD v2 gnomAD v4
9g.135786445G>ACA467821299KCNT1c.3426G>A (p.Arg1142=)
c.3267G>A (p.Arg1089=)
c.3174G>A (p.Arg1058=)
c.3183G>A (p.Arg1061=)
c.3327G>A (p.Arg1109=)
c.*3036G>A (n.*3036G>A)
c.3309G>A (p.Arg1103=)
c.3348G>A (p.Arg1116=)
c.3363G>A (p.Arg1121=)
c.3369G>A (p.Arg1123=)
c.3291G>A (p.Arg1097=)
c.3261G>A (p.Arg1087=)
c.3561G>A (p.Arg1187=)
c.3570G>A (p.Arg1190=)
c.2916G>A (p.Arg972=)
c.3360G>A (p.Arg1120=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.135786445G>CCA467821300KCNT1c.3426G>C (p.Arg1142=)
c.3267G>C (p.Arg1089=)
c.3174G>C (p.Arg1058=)
c.3183G>C (p.Arg1061=)
c.3327G>C (p.Arg1109=)
c.*3036G>C (n.*3036G>C)
c.3309G>C (p.Arg1103=)
c.3348G>C (p.Arg1116=)
c.3363G>C (p.Arg1121=)
c.3369G>C (p.Arg1123=)
c.3291G>C (p.Arg1097=)
c.3261G>C (p.Arg1087=)
c.3561G>C (p.Arg1187=)
c.3570G>C (p.Arg1190=)
c.2916G>C (p.Arg972=)
c.3360G>C (p.Arg1120=)
 dbSNP gnomAD v2 gnomAD v4
9g.135786445G=CA1883888353KCNT1c.3426G= (p.Arg1142=)
c.3267G= (p.Arg1089=)
c.3174G= (p.Arg1058=)
c.3183G= (p.Arg1061=)
c.3327G= (p.Arg1109=)
c.*3036G= (n.*3036G=)
c.3309G= (p.Arg1103=)
c.3348G= (p.Arg1116=)
c.3363G= (p.Arg1121=)
c.3369G= (p.Arg1123=)
c.3291G= (p.Arg1097=)
c.3261G= (p.Arg1087=)
c.3561G= (p.Arg1187=)
c.3570G= (p.Arg1190=)
c.2916G= (p.Arg972=)
c.3360G= (p.Arg1120=)
9g.135786445G>TCA467821301KCNT1c.3426G>T (p.Arg1142=)
c.3267G>T (p.Arg1089=)
c.3174G>T (p.Arg1058=)
c.3183G>T (p.Arg1061=)
c.3327G>T (p.Arg1109=)
c.*3036G>T (n.*3036G>T)
c.3309G>T (p.Arg1103=)
c.3348G>T (p.Arg1116=)
c.3363G>T (p.Arg1121=)
c.3369G>T (p.Arg1123=)
c.3291G>T (p.Arg1097=)
c.3261G>T (p.Arg1087=)
c.3561G>T (p.Arg1187=)
c.3570G>T (p.Arg1190=)
c.2916G>T (p.Arg972=)
c.3360G>T (p.Arg1120=)
 dbSNP gnomAD v3 gnomAD v4
9g.135786447_135786448delCA2692525748KCNT1c.3428_3429del (p.Arg1143LeufsTer2)
c.3269_3270del (p.Arg1090LeufsTer2)
c.3176_3177del (p.Arg1059LeufsTer2)
c.3185_3186del (p.Arg1062LeufsTer2)
c.3329_3330del (p.Arg1110LeufsTer2)
c.*3038_*3039del (n.*3038_*3039del)
c.3311_3312del (p.Arg1104LeufsTer2)
c.3350_3351del (p.Arg1117LeufsTer2)
c.3365_3366del (p.Arg1122LeufsTer2)
c.3371_3372del (p.Arg1124LeufsTer2)
c.3293_3294del (p.Arg1098LeufsTer2)
c.3263_3264del (p.Arg1088LeufsTer2)
c.3563_3564del (p.Arg1188LeufsTer2)
c.3572_3573del (p.Arg1191LeufsTer2)
c.2918_2919del (p.Arg973LeufsTer2)
c.3362_3363del (p.Arg1121LeufsTer2)
 gnomAD v4
9g.135786446C>ACA375492152KCNT1c.3427C>A (p.Arg1143Ser)
c.3268C>A (p.Arg1090Ser)
c.3175C>A (p.Arg1059Ser)
c.3184C>A (p.Arg1062Ser)
c.3328C>A (p.Arg1110Ser)
c.*3037C>A (n.*3037C>A)
c.3310C>A (p.Arg1104Ser)
c.3349C>A (p.Arg1117Ser)
c.3364C>A (p.Arg1122Ser)
c.3370C>A (p.Arg1124Ser)
c.3292C>A (p.Arg1098Ser)
c.3262C>A (p.Arg1088Ser)
c.3562C>A (p.Arg1188Ser)
c.3571C>A (p.Arg1191Ser)
c.2917C>A (p.Arg973Ser)
c.3361C>A (p.Arg1121Ser)
 ClinVar dbSNP gnomAD v4
9g.135786446C=CA1883888360KCNT1c.3427C= (p.Arg1143=)
c.3268C= (p.Arg1090=)
c.3175C= (p.Arg1059=)
c.3184C= (p.Arg1062=)
c.3328C= (p.Arg1110=)
c.*3037C= (n.*3037C=)
c.3310C= (p.Arg1104=)
c.3349C= (p.Arg1117=)
c.3364C= (p.Arg1122=)
c.3370C= (p.Arg1124=)
c.3292C= (p.Arg1098=)
c.3262C= (p.Arg1088=)
c.3562C= (p.Arg1188=)
c.3571C= (p.Arg1191=)
c.2917C= (p.Arg973=)
c.3361C= (p.Arg1121=)
9g.135786446C>GCA375492150KCNT1c.3427C>G (p.Arg1143Gly)
c.3268C>G (p.Arg1090Gly)
c.3175C>G (p.Arg1059Gly)
c.3184C>G (p.Arg1062Gly)
c.3328C>G (p.Arg1110Gly)
c.*3037C>G (n.*3037C>G)
c.3310C>G (p.Arg1104Gly)
c.3349C>G (p.Arg1117Gly)
c.3364C>G (p.Arg1122Gly)
c.3370C>G (p.Arg1124Gly)
c.3292C>G (p.Arg1098Gly)
c.3262C>G (p.Arg1088Gly)
c.3562C>G (p.Arg1188Gly)
c.3571C>G (p.Arg1191Gly)
c.2917C>G (p.Arg973Gly)
c.3361C>G (p.Arg1121Gly)
9g.135786446C>TCA5327815KCNT1c.3427C>T (p.Arg1143Cys)
c.3268C>T (p.Arg1090Cys)
c.3175C>T (p.Arg1059Cys)
c.3184C>T (p.Arg1062Cys)
c.3328C>T (p.Arg1110Cys)
c.*3037C>T (n.*3037C>T)
c.3310C>T (p.Arg1104Cys)
c.3349C>T (p.Arg1117Cys)
c.3364C>T (p.Arg1122Cys)
c.3370C>T (p.Arg1124Cys)
c.3292C>T (p.Arg1098Cys)
c.3262C>T (p.Arg1088Cys)
c.3562C>T (p.Arg1188Cys)
c.3571C>T (p.Arg1191Cys)
c.2917C>T (p.Arg973Cys)
c.3361C>T (p.Arg1121Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786447G>ACA375492154KCNT1c.3428G>A (p.Arg1143His)
c.3269G>A (p.Arg1090His)
c.3176G>A (p.Arg1059His)
c.3185G>A (p.Arg1062His)
c.3329G>A (p.Arg1110His)
c.*3038G>A (n.*3038G>A)
c.3311G>A (p.Arg1104His)
c.3350G>A (p.Arg1117His)
c.3365G>A (p.Arg1122His)
c.3371G>A (p.Arg1124His)
c.3293G>A (p.Arg1098His)
c.3263G>A (p.Arg1088His)
c.3563G>A (p.Arg1188His)
c.3572G>A (p.Arg1191His)
c.2918G>A (p.Arg973His)
c.3362G>A (p.Arg1121His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.135786447G>CCA375492157KCNT1c.3428G>C (p.Arg1143Pro)
c.3269G>C (p.Arg1090Pro)
c.3176G>C (p.Arg1059Pro)
c.3185G>C (p.Arg1062Pro)
c.3329G>C (p.Arg1110Pro)
c.*3038G>C (n.*3038G>C)
c.3311G>C (p.Arg1104Pro)
c.3350G>C (p.Arg1117Pro)
c.3365G>C (p.Arg1122Pro)
c.3371G>C (p.Arg1124Pro)
c.3293G>C (p.Arg1098Pro)
c.3263G>C (p.Arg1088Pro)
c.3563G>C (p.Arg1188Pro)
c.3572G>C (p.Arg1191Pro)
c.2918G>C (p.Arg973Pro)
c.3362G>C (p.Arg1121Pro)
9g.135786447G=CA1883888364KCNT1c.3428G= (p.Arg1143=)
c.3269G= (p.Arg1090=)
c.3176G= (p.Arg1059=)
c.3185G= (p.Arg1062=)
c.3329G= (p.Arg1110=)
c.*3038G= (n.*3038G=)
c.3311G= (p.Arg1104=)
c.3350G= (p.Arg1117=)
c.3365G= (p.Arg1122=)
c.3371G= (p.Arg1124=)
c.3293G= (p.Arg1098=)
c.3263G= (p.Arg1088=)
c.3563G= (p.Arg1188=)
c.3572G= (p.Arg1191=)
c.2918G= (p.Arg973=)
c.3362G= (p.Arg1121=)
9g.135786447G>TCA375492160KCNT1c.3428G>T (p.Arg1143Leu)
c.3269G>T (p.Arg1090Leu)
c.3176G>T (p.Arg1059Leu)
c.3185G>T (p.Arg1062Leu)
c.3329G>T (p.Arg1110Leu)
c.*3038G>T (n.*3038G>T)
c.3311G>T (p.Arg1104Leu)
c.3350G>T (p.Arg1117Leu)
c.3365G>T (p.Arg1122Leu)
c.3371G>T (p.Arg1124Leu)
c.3293G>T (p.Arg1098Leu)
c.3263G>T (p.Arg1088Leu)
c.3563G>T (p.Arg1188Leu)
c.3572G>T (p.Arg1191Leu)
c.2918G>T (p.Arg973Leu)
c.3362G>T (p.Arg1121Leu)
 gnomAD v4
9g.135786448C>ACA467821302KCNT1c.3429C>A (p.Arg1143=)
c.3270C>A (p.Arg1090=)
c.3177C>A (p.Arg1059=)
c.3186C>A (p.Arg1062=)
c.3330C>A (p.Arg1110=)
c.*3039C>A (n.*3039C>A)
c.3312C>A (p.Arg1104=)
c.3351C>A (p.Arg1117=)
c.3366C>A (p.Arg1122=)
c.3372C>A (p.Arg1124=)
c.3294C>A (p.Arg1098=)
c.3264C>A (p.Arg1088=)
c.3564C>A (p.Arg1188=)
c.3573C>A (p.Arg1191=)
c.2919C>A (p.Arg973=)
c.3363C>A (p.Arg1121=)
 gnomAD v4
9g.135786448C>GCA467821304KCNT1c.3429C>G (p.Arg1143=)
c.3270C>G (p.Arg1090=)
c.3177C>G (p.Arg1059=)
c.3186C>G (p.Arg1062=)
c.3330C>G (p.Arg1110=)
c.*3039C>G (n.*3039C>G)
c.3312C>G (p.Arg1104=)
c.3351C>G (p.Arg1117=)
c.3366C>G (p.Arg1122=)
c.3372C>G (p.Arg1124=)
c.3294C>G (p.Arg1098=)
c.3264C>G (p.Arg1088=)
c.3564C>G (p.Arg1188=)
c.3573C>G (p.Arg1191=)
c.2919C>G (p.Arg973=)
c.3363C>G (p.Arg1121=)
9g.135786448C>TCA467821303KCNT1c.3429C>T (p.Arg1143=)
c.3270C>T (p.Arg1090=)
c.3177C>T (p.Arg1059=)
c.3186C>T (p.Arg1062=)
c.3330C>T (p.Arg1110=)
c.*3039C>T (n.*3039C>T)
c.3312C>T (p.Arg1104=)
c.3351C>T (p.Arg1117=)
c.3366C>T (p.Arg1122=)
c.3372C>T (p.Arg1124=)
c.3294C>T (p.Arg1098=)
c.3264C>T (p.Arg1088=)
c.3564C>T (p.Arg1188=)
c.3573C>T (p.Arg1191=)
c.2919C>T (p.Arg973=)
c.3363C>T (p.Arg1121=)
 gnomAD v4
9g.135786449T>ACA375492163KCNT1c.3430T>A (p.Ser1144Thr)
c.3271T>A (p.Ser1091Thr)
c.3178T>A (p.Ser1060Thr)
c.3187T>A (p.Ser1063Thr)
c.3331T>A (p.Ser1111Thr)
c.*3040T>A (n.*3040T>A)
c.3313T>A (p.Ser1105Thr)
c.3352T>A (p.Ser1118Thr)
c.3367T>A (p.Ser1123Thr)
c.3373T>A (p.Ser1125Thr)
c.3295T>A (p.Ser1099Thr)
c.3265T>A (p.Ser1089Thr)
c.3565T>A (p.Ser1189Thr)
c.3574T>A (p.Ser1192Thr)
c.2920T>A (p.Ser974Thr)
c.3364T>A (p.Ser1122Thr)
9g.135786449T>CCA375492165KCNT1c.3430T>C (p.Ser1144Pro)
c.3271T>C (p.Ser1091Pro)
c.3178T>C (p.Ser1060Pro)
c.3187T>C (p.Ser1063Pro)
c.3331T>C (p.Ser1111Pro)
c.*3040T>C (n.*3040T>C)
c.3313T>C (p.Ser1105Pro)
c.3352T>C (p.Ser1118Pro)
c.3367T>C (p.Ser1123Pro)
c.3373T>C (p.Ser1125Pro)
c.3295T>C (p.Ser1099Pro)
c.3265T>C (p.Ser1089Pro)
c.3565T>C (p.Ser1189Pro)
c.3574T>C (p.Ser1192Pro)
c.2920T>C (p.Ser974Pro)
c.3364T>C (p.Ser1122Pro)
 ClinVar dbSNP
9g.135786449T>GCA375492167KCNT1c.3430T>G (p.Ser1144Ala)
c.3271T>G (p.Ser1091Ala)
c.3178T>G (p.Ser1060Ala)
c.3187T>G (p.Ser1063Ala)
c.3331T>G (p.Ser1111Ala)
c.*3040T>G (n.*3040T>G)
c.3313T>G (p.Ser1105Ala)
c.3352T>G (p.Ser1118Ala)
c.3367T>G (p.Ser1123Ala)
c.3373T>G (p.Ser1125Ala)
c.3295T>G (p.Ser1099Ala)
c.3265T>G (p.Ser1089Ala)
c.3565T>G (p.Ser1189Ala)
c.3574T>G (p.Ser1192Ala)
c.2920T>G (p.Ser974Ala)
c.3364T>G (p.Ser1122Ala)
9g.135786450C>ACA375492170KCNT1c.3431C>A (p.Ser1144Tyr)
c.3272C>A (p.Ser1091Tyr)
c.3179C>A (p.Ser1060Tyr)
c.3188C>A (p.Ser1063Tyr)
c.3332C>A (p.Ser1111Tyr)
c.*3041C>A (n.*3041C>A)
c.3314C>A (p.Ser1105Tyr)
c.3353C>A (p.Ser1118Tyr)
c.3368C>A (p.Ser1123Tyr)
c.3374C>A (p.Ser1125Tyr)
c.3296C>A (p.Ser1099Tyr)
c.3266C>A (p.Ser1089Tyr)
c.3566C>A (p.Ser1189Tyr)
c.3575C>A (p.Ser1192Tyr)
c.2921C>A (p.Ser974Tyr)
c.3365C>A (p.Ser1122Tyr)
 gnomAD v4
9g.135786450C=CA1883888373KCNT1c.3431C= (p.Ser1144=)
c.3272C= (p.Ser1091=)
c.3179C= (p.Ser1060=)
c.3188C= (p.Ser1063=)
c.3332C= (p.Ser1111=)
c.*3041C= (n.*3041C=)
c.3314C= (p.Ser1105=)
c.3353C= (p.Ser1118=)
c.3368C= (p.Ser1123=)
c.3374C= (p.Ser1125=)
c.3296C= (p.Ser1099=)
c.3266C= (p.Ser1089=)
c.3566C= (p.Ser1189=)
c.3575C= (p.Ser1192=)
c.2921C= (p.Ser974=)
c.3365C= (p.Ser1122=)
9g.135786450C>GCA5327816KCNT1c.3431C>G (p.Ser1144Cys)
c.3272C>G (p.Ser1091Cys)
c.3179C>G (p.Ser1060Cys)
c.3188C>G (p.Ser1063Cys)
c.3332C>G (p.Ser1111Cys)
c.*3041C>G (n.*3041C>G)
c.3314C>G (p.Ser1105Cys)
c.3353C>G (p.Ser1118Cys)
c.3368C>G (p.Ser1123Cys)
c.3374C>G (p.Ser1125Cys)
c.3296C>G (p.Ser1099Cys)
c.3266C>G (p.Ser1089Cys)
c.3566C>G (p.Ser1189Cys)
c.3575C>G (p.Ser1192Cys)
c.2921C>G (p.Ser974Cys)
c.3365C>G (p.Ser1122Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786450C>TCA375492174KCNT1c.3431C>T (p.Ser1144Phe)
c.3272C>T (p.Ser1091Phe)
c.3179C>T (p.Ser1060Phe)
c.3188C>T (p.Ser1063Phe)
c.3332C>T (p.Ser1111Phe)
c.*3041C>T (n.*3041C>T)
c.3314C>T (p.Ser1105Phe)
c.3353C>T (p.Ser1118Phe)
c.3368C>T (p.Ser1123Phe)
c.3374C>T (p.Ser1125Phe)
c.3296C>T (p.Ser1099Phe)
c.3266C>T (p.Ser1089Phe)
c.3566C>T (p.Ser1189Phe)
c.3575C>T (p.Ser1192Phe)
c.2921C>T (p.Ser974Phe)
c.3365C>T (p.Ser1122Phe)
9g.135786451T>ACA467821307KCNT1c.3432T>A (p.Ser1144=)
c.3273T>A (p.Ser1091=)
c.3180T>A (p.Ser1060=)
c.3189T>A (p.Ser1063=)
c.3333T>A (p.Ser1111=)
c.*3042T>A (n.*3042T>A)
c.3315T>A (p.Ser1105=)
c.3354T>A (p.Ser1118=)
c.3369T>A (p.Ser1123=)
c.3375T>A (p.Ser1125=)
c.3297T>A (p.Ser1099=)
c.3267T>A (p.Ser1089=)
c.3567T>A (p.Ser1189=)
c.3576T>A (p.Ser1192=)
c.2922T>A (p.Ser974=)
c.3366T>A (p.Ser1122=)
9g.135786451T>CCA467821305KCNT1c.3432T>C (p.Ser1144=)
c.3273T>C (p.Ser1091=)
c.3180T>C (p.Ser1060=)
c.3189T>C (p.Ser1063=)
c.3333T>C (p.Ser1111=)
c.*3042T>C (n.*3042T>C)
c.3315T>C (p.Ser1105=)
c.3354T>C (p.Ser1118=)
c.3369T>C (p.Ser1123=)
c.3375T>C (p.Ser1125=)
c.3297T>C (p.Ser1099=)
c.3267T>C (p.Ser1089=)
c.3567T>C (p.Ser1189=)
c.3576T>C (p.Ser1192=)
c.2922T>C (p.Ser974=)
c.3366T>C (p.Ser1122=)
 gnomAD v4
9g.135786451T>GCA467821306KCNT1c.3432T>G (p.Ser1144=)
c.3273T>G (p.Ser1091=)
c.3180T>G (p.Ser1060=)
c.3189T>G (p.Ser1063=)
c.3333T>G (p.Ser1111=)
c.*3042T>G (n.*3042T>G)
c.3315T>G (p.Ser1105=)
c.3354T>G (p.Ser1118=)
c.3369T>G (p.Ser1123=)
c.3375T>G (p.Ser1125=)
c.3297T>G (p.Ser1099=)
c.3267T>G (p.Ser1089=)
c.3567T>G (p.Ser1189=)
c.3576T>G (p.Ser1192=)
c.2922T>G (p.Ser974=)
c.3366T>G (p.Ser1122=)
9g.135786452G>ACA375492176KCNT1c.3433G>A (p.Glu1145Lys)
c.3274G>A (p.Glu1092Lys)
c.3181G>A (p.Glu1061Lys)
c.3190G>A (p.Glu1064Lys)
c.3334G>A (p.Glu1112Lys)
c.*3043G>A (n.*3043G>A)
c.3316G>A (p.Glu1106Lys)
c.3355G>A (p.Glu1119Lys)
c.3370G>A (p.Glu1124Lys)
c.3376G>A (p.Glu1126Lys)
c.3298G>A (p.Glu1100Lys)
c.3268G>A (p.Glu1090Lys)
c.3568G>A (p.Glu1190Lys)
c.3577G>A (p.Glu1193Lys)
c.2923G>A (p.Glu975Lys)
c.3367G>A (p.Glu1123Lys)
 ClinVar dbSNP
9g.135786452G>CCA375492178KCNT1c.3433G>C (p.Glu1145Gln)
c.3274G>C (p.Glu1092Gln)
c.3181G>C (p.Glu1061Gln)
c.3190G>C (p.Glu1064Gln)
c.3334G>C (p.Glu1112Gln)
c.*3043G>C (n.*3043G>C)
c.3316G>C (p.Glu1106Gln)
c.3355G>C (p.Glu1119Gln)
c.3370G>C (p.Glu1124Gln)
c.3376G>C (p.Glu1126Gln)
c.3298G>C (p.Glu1100Gln)
c.3268G>C (p.Glu1090Gln)
c.3568G>C (p.Glu1190Gln)
c.3577G>C (p.Glu1193Gln)
c.2923G>C (p.Glu975Gln)
c.3367G>C (p.Glu1123Gln)
9g.135786452G=CA1883888378KCNT1c.3433G= (p.Glu1145=)
c.3274G= (p.Glu1092=)
c.3181G= (p.Glu1061=)
c.3190G= (p.Glu1064=)
c.3334G= (p.Glu1112=)
c.*3043G= (n.*3043G=)
c.3316G= (p.Glu1106=)
c.3355G= (p.Glu1119=)
c.3370G= (p.Glu1124=)
c.3376G= (p.Glu1126=)
c.3298G= (p.Glu1100=)
c.3268G= (p.Glu1090=)
c.3568G= (p.Glu1190=)
c.3577G= (p.Glu1193=)
c.2923G= (p.Glu975=)
c.3367G= (p.Glu1123=)
9g.135786452G>TCA375492181KCNT1c.3433G>T (p.Glu1145Ter)
c.3274G>T (p.Glu1092Ter)
c.3181G>T (p.Glu1061Ter)
c.3190G>T (p.Glu1064Ter)
c.3334G>T (p.Glu1112Ter)
c.*3043G>T (n.*3043G>T)
c.3316G>T (p.Glu1106Ter)
c.3355G>T (p.Glu1119Ter)
c.3370G>T (p.Glu1124Ter)
c.3376G>T (p.Glu1126Ter)
c.3298G>T (p.Glu1100Ter)
c.3268G>T (p.Glu1090Ter)
c.3568G>T (p.Glu1190Ter)
c.3577G>T (p.Glu1193Ter)
c.2923G>T (p.Glu975Ter)
c.3367G>T (p.Glu1123Ter)
 gnomAD v4
9g.135786453A=CA1883888380KCNT1c.3434A= (p.Glu1145=)
c.3275A= (p.Glu1092=)
c.3182A= (p.Glu1061=)
c.3191A= (p.Glu1064=)
c.3335A= (p.Glu1112=)
c.*3044A= (n.*3044A=)
c.3317A= (p.Glu1106=)
c.3356A= (p.Glu1119=)
c.3371A= (p.Glu1124=)
c.3377A= (p.Glu1126=)
c.3299A= (p.Glu1100=)
c.3269A= (p.Glu1090=)
c.3569A= (p.Glu1190=)
c.3578A= (p.Glu1193=)
c.2924A= (p.Glu975=)
c.3368A= (p.Glu1123=)
9g.135786453A>CCA375492184KCNT1c.3434A>C (p.Glu1145Ala)
c.3275A>C (p.Glu1092Ala)
c.3182A>C (p.Glu1061Ala)
c.3191A>C (p.Glu1064Ala)
c.3335A>C (p.Glu1112Ala)
c.*3044A>C (n.*3044A>C)
c.3317A>C (p.Glu1106Ala)
c.3356A>C (p.Glu1119Ala)
c.3371A>C (p.Glu1124Ala)
c.3377A>C (p.Glu1126Ala)
c.3299A>C (p.Glu1100Ala)
c.3269A>C (p.Glu1090Ala)
c.3569A>C (p.Glu1190Ala)
c.3578A>C (p.Glu1193Ala)
c.2924A>C (p.Glu975Ala)
c.3368A>C (p.Glu1123Ala)
9g.135786453A>GCA375492187KCNT1c.3434A>G (p.Glu1145Gly)
c.3275A>G (p.Glu1092Gly)
c.3182A>G (p.Glu1061Gly)
c.3191A>G (p.Glu1064Gly)
c.3335A>G (p.Glu1112Gly)
c.*3044A>G (n.*3044A>G)
c.3317A>G (p.Glu1106Gly)
c.3356A>G (p.Glu1119Gly)
c.3371A>G (p.Glu1124Gly)
c.3377A>G (p.Glu1126Gly)
c.3299A>G (p.Glu1100Gly)
c.3269A>G (p.Glu1090Gly)
c.3569A>G (p.Glu1190Gly)
c.3578A>G (p.Glu1193Gly)
c.2924A>G (p.Glu975Gly)
c.3368A>G (p.Glu1123Gly)
 gnomAD v4
9g.135786453A>TCA375492183KCNT1c.3434A>T (p.Glu1145Val)
c.3275A>T (p.Glu1092Val)
c.3182A>T (p.Glu1061Val)
c.3191A>T (p.Glu1064Val)
c.3335A>T (p.Glu1112Val)
c.*3044A>T (n.*3044A>T)
c.3317A>T (p.Glu1106Val)
c.3356A>T (p.Glu1119Val)
c.3371A>T (p.Glu1124Val)
c.3377A>T (p.Glu1126Val)
c.3299A>T (p.Glu1100Val)
c.3269A>T (p.Glu1090Val)
c.3569A>T (p.Glu1190Val)
c.3578A>T (p.Glu1193Val)
c.2924A>T (p.Glu975Val)
c.3368A>T (p.Glu1123Val)
 dbSNP
9g.135786454G>ACA467821308KCNT1c.3435G>A (p.Glu1145=)
c.3276G>A (p.Glu1092=)
c.3183G>A (p.Glu1061=)
c.3192G>A (p.Glu1064=)
c.3336G>A (p.Glu1112=)
c.*3045G>A (n.*3045G>A)
c.3318G>A (p.Glu1106=)
c.3357G>A (p.Glu1119=)
c.3372G>A (p.Glu1124=)
c.3378G>A (p.Glu1126=)
c.3300G>A (p.Glu1100=)
c.3270G>A (p.Glu1090=)
c.3570G>A (p.Glu1190=)
c.3579G>A (p.Glu1193=)
c.2925G>A (p.Glu975=)
c.3369G>A (p.Glu1123=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.135786454G>CCA375492192KCNT1c.3435G>C (p.Glu1145Asp)
c.3276G>C (p.Glu1092Asp)
c.3183G>C (p.Glu1061Asp)
c.3192G>C (p.Glu1064Asp)
c.3336G>C (p.Glu1112Asp)
c.*3045G>C (n.*3045G>C)
c.3318G>C (p.Glu1106Asp)
c.3357G>C (p.Glu1119Asp)
c.3372G>C (p.Glu1124Asp)
c.3378G>C (p.Glu1126Asp)
c.3300G>C (p.Glu1100Asp)
c.3270G>C (p.Glu1090Asp)
c.3570G>C (p.Glu1190Asp)
c.3579G>C (p.Glu1193Asp)
c.2925G>C (p.Glu975Asp)
c.3369G>C (p.Glu1123Asp)
9g.135786454G=CA1883888385KCNT1c.3435G= (p.Glu1145=)
c.3276G= (p.Glu1092=)
c.3183G= (p.Glu1061=)
c.3192G= (p.Glu1064=)
c.3336G= (p.Glu1112=)
c.*3045G= (n.*3045G=)
c.3318G= (p.Glu1106=)
c.3357G= (p.Glu1119=)
c.3372G= (p.Glu1124=)
c.3378G= (p.Glu1126=)
c.3300G= (p.Glu1100=)
c.3270G= (p.Glu1090=)
c.3570G= (p.Glu1190=)
c.3579G= (p.Glu1193=)
c.2925G= (p.Glu975=)
c.3369G= (p.Glu1123=)
9g.135786454G>TCA375492190KCNT1c.3435G>T (p.Glu1145Asp)
c.3276G>T (p.Glu1092Asp)
c.3183G>T (p.Glu1061Asp)
c.3192G>T (p.Glu1064Asp)
c.3336G>T (p.Glu1112Asp)
c.*3045G>T (n.*3045G>T)
c.3318G>T (p.Glu1106Asp)
c.3357G>T (p.Glu1119Asp)
c.3372G>T (p.Glu1124Asp)
c.3378G>T (p.Glu1126Asp)
c.3300G>T (p.Glu1100Asp)
c.3270G>T (p.Glu1090Asp)
c.3570G>T (p.Glu1190Asp)
c.3579G>T (p.Glu1193Asp)
c.2925G>T (p.Glu975Asp)
c.3369G>T (p.Glu1123Asp)
 gnomAD v4
9g.135786455C>ACA375492195KCNT1c.3436C>A (p.Arg1146Ser)
c.3277C>A (p.Arg1093Ser)
c.3184C>A (p.Arg1062Ser)
c.3193C>A (p.Arg1065Ser)
c.3337C>A (p.Arg1113Ser)
c.*3046C>A (n.*3046C>A)
c.3319C>A (p.Arg1107Ser)
c.3358C>A (p.Arg1120Ser)
c.3373C>A (p.Arg1125Ser)
c.3379C>A (p.Arg1127Ser)
c.3301C>A (p.Arg1101Ser)
c.3271C>A (p.Arg1091Ser)
c.3571C>A (p.Arg1191Ser)
c.3580C>A (p.Arg1194Ser)
c.2926C>A (p.Arg976Ser)
c.3370C>A (p.Arg1124Ser)
 dbSNP gnomAD v3 gnomAD v4
9g.135786455C=CA1883888391KCNT1c.3436C= (p.Arg1146=)
c.3277C= (p.Arg1093=)
c.3184C= (p.Arg1062=)
c.3193C= (p.Arg1065=)
c.3337C= (p.Arg1113=)
c.*3046C= (n.*3046C=)
c.3319C= (p.Arg1107=)
c.3358C= (p.Arg1120=)
c.3373C= (p.Arg1125=)
c.3379C= (p.Arg1127=)
c.3301C= (p.Arg1101=)
c.3271C= (p.Arg1091=)
c.3571C= (p.Arg1191=)
c.3580C= (p.Arg1194=)
c.2926C= (p.Arg976=)
c.3370C= (p.Arg1124=)
9g.135786455C>GCA375492197KCNT1c.3436C>G (p.Arg1146Gly)
c.3277C>G (p.Arg1093Gly)
c.3184C>G (p.Arg1062Gly)
c.3193C>G (p.Arg1065Gly)
c.3337C>G (p.Arg1113Gly)
c.*3046C>G (n.*3046C>G)
c.3319C>G (p.Arg1107Gly)
c.3358C>G (p.Arg1120Gly)
c.3373C>G (p.Arg1125Gly)
c.3379C>G (p.Arg1127Gly)
c.3301C>G (p.Arg1101Gly)
c.3271C>G (p.Arg1091Gly)
c.3571C>G (p.Arg1191Gly)
c.3580C>G (p.Arg1194Gly)
c.2926C>G (p.Arg976Gly)
c.3370C>G (p.Arg1124Gly)
 gnomAD v4
9g.135786455C>TCA375492199KCNT1c.3436C>T (p.Arg1146Cys)
c.3277C>T (p.Arg1093Cys)
c.3184C>T (p.Arg1062Cys)
c.3193C>T (p.Arg1065Cys)
c.3337C>T (p.Arg1113Cys)
c.*3046C>T (n.*3046C>T)
c.3319C>T (p.Arg1107Cys)
c.3358C>T (p.Arg1120Cys)
c.3373C>T (p.Arg1125Cys)
c.3379C>T (p.Arg1127Cys)
c.3301C>T (p.Arg1101Cys)
c.3271C>T (p.Arg1091Cys)
c.3571C>T (p.Arg1191Cys)
c.3580C>T (p.Arg1194Cys)
c.2926C>T (p.Arg976Cys)
c.3370C>T (p.Arg1124Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.135786456delCA2786248175KCNT1c.3437del (p.Arg1146ProfsTer8)
c.3278del (p.Arg1093ProfsTer8)
c.3185del (p.Arg1062ProfsTer8)
c.3194del (p.Arg1065ProfsTer8)
c.3338del (p.Arg1113ProfsTer8)
c.*3047del (n.*3047del)
c.3320del (p.Arg1107ProfsTer8)
c.3359del (p.Arg1120ProfsTer8)
c.3374del (p.Arg1125ProfsTer8)
c.3380del (p.Arg1127ProfsTer8)
c.3302del (p.Arg1101ProfsTer8)
c.3272del (p.Arg1091ProfsTer8)
c.3572del (p.Arg1191ProfsTer8)
c.3581del (p.Arg1194ProfsTer8)
c.2927del (p.Arg976ProfsTer8)
c.3371del (p.Arg1124ProfsTer8)
9g.135786456G>ACA5327817KCNT1c.3437G>A (p.Arg1146His)
c.3278G>A (p.Arg1093His)
c.3185G>A (p.Arg1062His)
c.3194G>A (p.Arg1065His)
c.3338G>A (p.Arg1113His)
c.*3047G>A (n.*3047G>A)
c.3320G>A (p.Arg1107His)
c.3359G>A (p.Arg1120His)
c.3374G>A (p.Arg1125His)
c.3380G>A (p.Arg1127His)
c.3302G>A (p.Arg1101His)
c.3272G>A (p.Arg1091His)
c.3572G>A (p.Arg1191His)
c.3581G>A (p.Arg1194His)
c.2927G>A (p.Arg976His)
c.3371G>A (p.Arg1124His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786456G>CCA375492204KCNT1c.3437G>C (p.Arg1146Pro)
c.3278G>C (p.Arg1093Pro)
c.3185G>C (p.Arg1062Pro)
c.3194G>C (p.Arg1065Pro)
c.3338G>C (p.Arg1113Pro)
c.*3047G>C (n.*3047G>C)
c.3320G>C (p.Arg1107Pro)
c.3359G>C (p.Arg1120Pro)
c.3374G>C (p.Arg1125Pro)
c.3380G>C (p.Arg1127Pro)
c.3302G>C (p.Arg1101Pro)
c.3272G>C (p.Arg1091Pro)
c.3572G>C (p.Arg1191Pro)
c.3581G>C (p.Arg1194Pro)
c.2927G>C (p.Arg976Pro)
c.3371G>C (p.Arg1124Pro)
 gnomAD v4
9g.135786456G=CA1883888405KCNT1c.3437G= (p.Arg1146=)
c.3278G= (p.Arg1093=)
c.3185G= (p.Arg1062=)
c.3194G= (p.Arg1065=)
c.3338G= (p.Arg1113=)
c.*3047G= (n.*3047G=)
c.3320G= (p.Arg1107=)
c.3359G= (p.Arg1120=)
c.3374G= (p.Arg1125=)
c.3380G= (p.Arg1127=)
c.3302G= (p.Arg1101=)
c.3272G= (p.Arg1091=)
c.3572G= (p.Arg1191=)
c.3581G= (p.Arg1194=)
c.2927G= (p.Arg976=)
c.3371G= (p.Arg1124=)
9g.135786456G>TCA375492207KCNT1c.3437G>T (p.Arg1146Leu)
c.3278G>T (p.Arg1093Leu)
c.3185G>T (p.Arg1062Leu)
c.3194G>T (p.Arg1065Leu)
c.3338G>T (p.Arg1113Leu)
c.*3047G>T (n.*3047G>T)
c.3320G>T (p.Arg1107Leu)
c.3359G>T (p.Arg1120Leu)
c.3374G>T (p.Arg1125Leu)
c.3380G>T (p.Arg1127Leu)
c.3302G>T (p.Arg1101Leu)
c.3272G>T (p.Arg1091Leu)
c.3572G>T (p.Arg1191Leu)
c.3581G>T (p.Arg1194Leu)
c.2927G>T (p.Arg976Leu)
c.3371G>T (p.Arg1124Leu)
 dbSNP gnomAD v2 gnomAD v4
9g.135786457C>ACA467821309KCNT1c.3438C>A (p.Arg1146=)
c.3279C>A (p.Arg1093=)
c.3186C>A (p.Arg1062=)
c.3195C>A (p.Arg1065=)
c.3339C>A (p.Arg1113=)
c.*3048C>A (n.*3048C>A)
c.3321C>A (p.Arg1107=)
c.3360C>A (p.Arg1120=)
c.3375C>A (p.Arg1125=)
c.3381C>A (p.Arg1127=)
c.3303C>A (p.Arg1101=)
c.3273C>A (p.Arg1091=)
c.3573C>A (p.Arg1191=)
c.3582C>A (p.Arg1194=)
c.2928C>A (p.Arg976=)
c.3372C>A (p.Arg1124=)
 gnomAD v4
9g.135786457C=CA1883888409KCNT1c.3438C= (p.Arg1146=)
c.3279C= (p.Arg1093=)
c.3186C= (p.Arg1062=)
c.3195C= (p.Arg1065=)
c.3339C= (p.Arg1113=)
c.*3048C= (n.*3048C=)
c.3321C= (p.Arg1107=)
c.3360C= (p.Arg1120=)
c.3375C= (p.Arg1125=)
c.3381C= (p.Arg1127=)
c.3303C= (p.Arg1101=)
c.3273C= (p.Arg1091=)
c.3573C= (p.Arg1191=)
c.3582C= (p.Arg1194=)
c.2928C= (p.Arg976=)
c.3372C= (p.Arg1124=)
9g.135786457C>GCA467821310KCNT1c.3438C>G (p.Arg1146=)
c.3279C>G (p.Arg1093=)
c.3186C>G (p.Arg1062=)
c.3195C>G (p.Arg1065=)
c.3339C>G (p.Arg1113=)
c.*3048C>G (n.*3048C>G)
c.3321C>G (p.Arg1107=)
c.3360C>G (p.Arg1120=)
c.3375C>G (p.Arg1125=)
c.3381C>G (p.Arg1127=)
c.3303C>G (p.Arg1101=)
c.3273C>G (p.Arg1091=)
c.3573C>G (p.Arg1191=)
c.3582C>G (p.Arg1194=)
c.2928C>G (p.Arg976=)
c.3372C>G (p.Arg1124=)
9g.135786457C>TCA5327818KCNT1c.3438C>T (p.Arg1146=)
c.3279C>T (p.Arg1093=)
c.3186C>T (p.Arg1062=)
c.3195C>T (p.Arg1065=)
c.3339C>T (p.Arg1113=)
c.*3048C>T (n.*3048C>T)
c.3321C>T (p.Arg1107=)
c.3360C>T (p.Arg1120=)
c.3375C>T (p.Arg1125=)
c.3381C>T (p.Arg1127=)
c.3303C>T (p.Arg1101=)
c.3273C>T (p.Arg1091=)
c.3573C>T (p.Arg1191=)
c.3582C>T (p.Arg1194=)
c.2928C>T (p.Arg976=)
c.3372C>T (p.Arg1124=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786458dupCA2580617151KCNT1c.3439dup (p.Gln1147ProfsTer?)
c.3280dup (p.Gln1094ProfsTer?)
c.3187dup (p.Gln1063ProfsTer?)
c.3196dup (p.Gln1066ProfsTer?)
c.3340dup (p.Gln1114ProfsTer?)
c.*3049dup (n.*3049dup)
c.3322dup (p.Gln1108ProfsTer?)
c.3361dup (p.Gln1121ProfsTer?)
c.3376dup (p.Gln1126ProfsTer?)
c.3382dup (p.Gln1128ProfsTer?)
c.3304dup (p.Gln1102ProfsTer?)
c.3274dup (p.Gln1092ProfsTer?)
c.3574dup (p.Gln1192ProfsTer?)
c.3583dup (p.Gln1195ProfsTer?)
c.2929dup (p.Gln977ProfsTer?)
c.3373dup (p.Gln1125ProfsTer?)
 ClinVar
9g.135786458C>ACA375492209KCNT1c.3439C>A (p.Gln1147Lys)
c.3280C>A (p.Gln1094Lys)
c.3187C>A (p.Gln1063Lys)
c.3196C>A (p.Gln1066Lys)
c.3340C>A (p.Gln1114Lys)
c.*3049C>A (n.*3049C>A)
c.3322C>A (p.Gln1108Lys)
c.3361C>A (p.Gln1121Lys)
c.3376C>A (p.Gln1126Lys)
c.3382C>A (p.Gln1128Lys)
c.3304C>A (p.Gln1102Lys)
c.3274C>A (p.Gln1092Lys)
c.3574C>A (p.Gln1192Lys)
c.3583C>A (p.Gln1195Lys)
c.2929C>A (p.Gln977Lys)
c.3373C>A (p.Gln1125Lys)
 gnomAD v4
9g.135786458C>GCA375492210KCNT1c.3439C>G (p.Gln1147Glu)
c.3280C>G (p.Gln1094Glu)
c.3187C>G (p.Gln1063Glu)
c.3196C>G (p.Gln1066Glu)
c.3340C>G (p.Gln1114Glu)
c.*3049C>G (n.*3049C>G)
c.3322C>G (p.Gln1108Glu)
c.3361C>G (p.Gln1121Glu)
c.3376C>G (p.Gln1126Glu)
c.3382C>G (p.Gln1128Glu)
c.3304C>G (p.Gln1102Glu)
c.3274C>G (p.Gln1092Glu)
c.3574C>G (p.Gln1192Glu)
c.3583C>G (p.Gln1195Glu)
c.2929C>G (p.Gln977Glu)
c.3373C>G (p.Gln1125Glu)
9g.135786458C>TCA375492211KCNT1c.3439C>T (p.Gln1147Ter)
c.3280C>T (p.Gln1094Ter)
c.3187C>T (p.Gln1063Ter)
c.3196C>T (p.Gln1066Ter)
c.3340C>T (p.Gln1114Ter)
c.*3049C>T (n.*3049C>T)
c.3322C>T (p.Gln1108Ter)
c.3361C>T (p.Gln1121Ter)
c.3376C>T (p.Gln1126Ter)
c.3382C>T (p.Gln1128Ter)
c.3304C>T (p.Gln1102Ter)
c.3274C>T (p.Gln1092Ter)
c.3574C>T (p.Gln1192Ter)
c.3583C>T (p.Gln1195Ter)
c.2929C>T (p.Gln977Ter)
c.3373C>T (p.Gln1125Ter)
 gnomAD v4
9g.135786458_135786474delCA2786248176KCNT1c.3439_3455del (p.Gln1147GlyfsTer?)
c.3280_3296del (p.Gln1094GlyfsTer25)
c.3187_3203del (p.Gln1063GlyfsTer?)
c.3187_3203del (p.Gln1063GlyfsTer25)
c.3196_3212del (p.Gln1066GlyfsTer25)
c.3340_3356del (p.Gln1114GlyfsTer25)
c.*3049_*3065del (n.*3049_*3065del)
c.3322_3338del (p.Gln1108GlyfsTer25)
c.3439_3455del (p.Gln1147GlyfsTer25)
c.3361_3377del (p.Gln1121GlyfsTer25)
c.3376_3392del (p.Gln1126GlyfsTer25)
c.3382_3398del (p.Gln1128GlyfsTer?)
c.3304_3320del (p.Gln1102GlyfsTer25)
c.3274_3290del (p.Gln1092GlyfsTer25)
c.3382_3398del (p.Gln1128GlyfsTer25)
c.3574_3590del (p.Gln1192GlyfsTer25)
c.3583_3599del (p.Gln1195GlyfsTer?)
c.3574_3590del (p.Gln1192GlyfsTer?)
c.2929_2945del (p.Gln977GlyfsTer25)
c.3373_3389del (p.Gln1125GlyfsTer25)
9g.135786459A>CCA375492214KCNT1c.3440A>C (p.Gln1147Pro)
c.3281A>C (p.Gln1094Pro)
c.3188A>C (p.Gln1063Pro)
c.3197A>C (p.Gln1066Pro)
c.3341A>C (p.Gln1114Pro)
c.*3050A>C (n.*3050A>C)
c.3323A>C (p.Gln1108Pro)
c.3362A>C (p.Gln1121Pro)
c.3377A>C (p.Gln1126Pro)
c.3383A>C (p.Gln1128Pro)
c.3305A>C (p.Gln1102Pro)
c.3275A>C (p.Gln1092Pro)
c.3575A>C (p.Gln1192Pro)
c.3584A>C (p.Gln1195Pro)
c.2930A>C (p.Gln977Pro)
c.3374A>C (p.Gln1125Pro)
 gnomAD v4
9g.135786459A>GCA375492213KCNT1c.3440A>G (p.Gln1147Arg)
c.3281A>G (p.Gln1094Arg)
c.3188A>G (p.Gln1063Arg)
c.3197A>G (p.Gln1066Arg)
c.3341A>G (p.Gln1114Arg)
c.*3050A>G (n.*3050A>G)
c.3323A>G (p.Gln1108Arg)
c.3362A>G (p.Gln1121Arg)
c.3377A>G (p.Gln1126Arg)
c.3383A>G (p.Gln1128Arg)
c.3305A>G (p.Gln1102Arg)
c.3275A>G (p.Gln1092Arg)
c.3575A>G (p.Gln1192Arg)
c.3584A>G (p.Gln1195Arg)
c.2930A>G (p.Gln977Arg)
c.3374A>G (p.Gln1125Arg)
 gnomAD v4
9g.135786459A>TCA375492212KCNT1c.3440A>T (p.Gln1147Leu)
c.3281A>T (p.Gln1094Leu)
c.3188A>T (p.Gln1063Leu)
c.3197A>T (p.Gln1066Leu)
c.3341A>T (p.Gln1114Leu)
c.*3050A>T (n.*3050A>T)
c.3323A>T (p.Gln1108Leu)
c.3362A>T (p.Gln1121Leu)
c.3377A>T (p.Gln1126Leu)
c.3383A>T (p.Gln1128Leu)
c.3305A>T (p.Gln1102Leu)
c.3275A>T (p.Gln1092Leu)
c.3575A>T (p.Gln1192Leu)
c.3584A>T (p.Gln1195Leu)
c.2930A>T (p.Gln977Leu)
c.3374A>T (p.Gln1125Leu)
9g.135786460G>ACA467821311KCNT1c.3441G>A (p.Gln1147=)
c.3282G>A (p.Gln1094=)
c.3189G>A (p.Gln1063=)
c.3198G>A (p.Gln1066=)
c.3342G>A (p.Gln1114=)
c.*3051G>A (n.*3051G>A)
c.3324G>A (p.Gln1108=)
c.3363G>A (p.Gln1121=)
c.3378G>A (p.Gln1126=)
c.3384G>A (p.Gln1128=)
c.3306G>A (p.Gln1102=)
c.3276G>A (p.Gln1092=)
c.3576G>A (p.Gln1192=)
c.3585G>A (p.Gln1195=)
c.2931G>A (p.Gln977=)
c.3375G>A (p.Gln1125=)
 gnomAD v4
9g.135786460G>CCA5327819KCNT1c.3441G>C (p.Gln1147His)
c.3282G>C (p.Gln1094His)
c.3189G>C (p.Gln1063His)
c.3198G>C (p.Gln1066His)
c.3342G>C (p.Gln1114His)
c.*3051G>C (n.*3051G>C)
c.3324G>C (p.Gln1108His)
c.3363G>C (p.Gln1121His)
c.3378G>C (p.Gln1126His)
c.3384G>C (p.Gln1128His)
c.3306G>C (p.Gln1102His)
c.3276G>C (p.Gln1092His)
c.3576G>C (p.Gln1192His)
c.3585G>C (p.Gln1195His)
c.2931G>C (p.Gln977His)
c.3375G>C (p.Gln1125His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786460G=CA1883888410KCNT1c.3441G= (p.Gln1147=)
c.3282G= (p.Gln1094=)
c.3189G= (p.Gln1063=)
c.3198G= (p.Gln1066=)
c.3342G= (p.Gln1114=)
c.*3051G= (n.*3051G=)
c.3324G= (p.Gln1108=)
c.3363G= (p.Gln1121=)
c.3378G= (p.Gln1126=)
c.3384G= (p.Gln1128=)
c.3306G= (p.Gln1102=)
c.3276G= (p.Gln1092=)
c.3576G= (p.Gln1192=)
c.3585G= (p.Gln1195=)
c.2931G= (p.Gln977=)
c.3375G= (p.Gln1125=)
9g.135786460G>TCA375492215KCNT1c.3441G>T (p.Gln1147His)
c.3282G>T (p.Gln1094His)
c.3189G>T (p.Gln1063His)
c.3198G>T (p.Gln1066His)
c.3342G>T (p.Gln1114His)
c.*3051G>T (n.*3051G>T)
c.3324G>T (p.Gln1108His)
c.3363G>T (p.Gln1121His)
c.3378G>T (p.Gln1126His)
c.3384G>T (p.Gln1128His)
c.3306G>T (p.Gln1102His)
c.3276G>T (p.Gln1092His)
c.3576G>T (p.Gln1192His)
c.3585G>T (p.Gln1195His)
c.2931G>T (p.Gln977His)
c.3375G>T (p.Gln1125His)
 dbSNP gnomAD v2 gnomAD v4
9g.135786461G>ACA375492216KCNT1c.3442G>A (p.Glu1148Lys)
c.3283G>A (p.Glu1095Lys)
c.3190G>A (p.Glu1064Lys)
c.3199G>A (p.Glu1067Lys)
c.3343G>A (p.Glu1115Lys)
c.*3052G>A (n.*3052G>A)
c.3325G>A (p.Glu1109Lys)
c.3364G>A (p.Glu1122Lys)
c.3379G>A (p.Glu1127Lys)
c.3385G>A (p.Glu1129Lys)
c.3307G>A (p.Glu1103Lys)
c.3277G>A (p.Glu1093Lys)
c.3577G>A (p.Glu1193Lys)
c.3586G>A (p.Glu1196Lys)
c.2932G>A (p.Glu978Lys)
c.3376G>A (p.Glu1126Lys)
 ClinVar
9g.135786461G>CCA375492217KCNT1c.3442G>C (p.Glu1148Gln)
c.3283G>C (p.Glu1095Gln)
c.3190G>C (p.Glu1064Gln)
c.3199G>C (p.Glu1067Gln)
c.3343G>C (p.Glu1115Gln)
c.*3052G>C (n.*3052G>C)
c.3325G>C (p.Glu1109Gln)
c.3364G>C (p.Glu1122Gln)
c.3379G>C (p.Glu1127Gln)
c.3385G>C (p.Glu1129Gln)
c.3307G>C (p.Glu1103Gln)
c.3277G>C (p.Glu1093Gln)
c.3577G>C (p.Glu1193Gln)
c.3586G>C (p.Glu1196Gln)
c.2932G>C (p.Glu978Gln)
c.3376G>C (p.Glu1126Gln)
9g.135786461G>TCA375492218KCNT1c.3442G>T (p.Glu1148Ter)
c.3283G>T (p.Glu1095Ter)
c.3190G>T (p.Glu1064Ter)
c.3199G>T (p.Glu1067Ter)
c.3343G>T (p.Glu1115Ter)
c.*3052G>T (n.*3052G>T)
c.3325G>T (p.Glu1109Ter)
c.3364G>T (p.Glu1122Ter)
c.3379G>T (p.Glu1127Ter)
c.3385G>T (p.Glu1129Ter)
c.3307G>T (p.Glu1103Ter)
c.3277G>T (p.Glu1093Ter)
c.3577G>T (p.Glu1193Ter)
c.3586G>T (p.Glu1196Ter)
c.2932G>T (p.Glu978Ter)
c.3376G>T (p.Glu1126Ter)
 gnomAD v4
9g.135786462A>CCA375492219KCNT1c.3443A>C (p.Glu1148Ala)
c.3284A>C (p.Glu1095Ala)
c.3191A>C (p.Glu1064Ala)
c.3200A>C (p.Glu1067Ala)
c.3344A>C (p.Glu1115Ala)
c.*3053A>C (n.*3053A>C)
c.3326A>C (p.Glu1109Ala)
c.3365A>C (p.Glu1122Ala)
c.3380A>C (p.Glu1127Ala)
c.3386A>C (p.Glu1129Ala)
c.3308A>C (p.Glu1103Ala)
c.3278A>C (p.Glu1093Ala)
c.3578A>C (p.Glu1193Ala)
c.3587A>C (p.Glu1196Ala)
c.2933A>C (p.Glu978Ala)
c.3377A>C (p.Glu1126Ala)
9g.135786462A>GCA375492220KCNT1c.3443A>G (p.Glu1148Gly)
c.3284A>G (p.Glu1095Gly)
c.3191A>G (p.Glu1064Gly)
c.3200A>G (p.Glu1067Gly)
c.3344A>G (p.Glu1115Gly)
c.*3053A>G (n.*3053A>G)
c.3326A>G (p.Glu1109Gly)
c.3365A>G (p.Glu1122Gly)
c.3380A>G (p.Glu1127Gly)
c.3386A>G (p.Glu1129Gly)
c.3308A>G (p.Glu1103Gly)
c.3278A>G (p.Glu1093Gly)
c.3578A>G (p.Glu1193Gly)
c.3587A>G (p.Glu1196Gly)
c.2933A>G (p.Glu978Gly)
c.3377A>G (p.Glu1126Gly)
 gnomAD v4
9g.135786462A>TCA375492221KCNT1c.3443A>T (p.Glu1148Val)
c.3284A>T (p.Glu1095Val)
c.3191A>T (p.Glu1064Val)
c.3200A>T (p.Glu1067Val)
c.3344A>T (p.Glu1115Val)
c.*3053A>T (n.*3053A>T)
c.3326A>T (p.Glu1109Val)
c.3365A>T (p.Glu1122Val)
c.3380A>T (p.Glu1127Val)
c.3386A>T (p.Glu1129Val)
c.3308A>T (p.Glu1103Val)
c.3278A>T (p.Glu1093Val)
c.3578A>T (p.Glu1193Val)
c.3587A>T (p.Glu1196Val)
c.2933A>T (p.Glu978Val)
c.3377A>T (p.Glu1126Val)
9g.135786463G>ACA467821312KCNT1c.3444G>A (p.Glu1148=)
c.3285G>A (p.Glu1095=)
c.3192G>A (p.Glu1064=)
c.3201G>A (p.Glu1067=)
c.3345G>A (p.Glu1115=)
c.*3054G>A (n.*3054G>A)
c.3327G>A (p.Glu1109=)
c.3366G>A (p.Glu1122=)
c.3381G>A (p.Glu1127=)
c.3387G>A (p.Glu1129=)
c.3309G>A (p.Glu1103=)
c.3279G>A (p.Glu1093=)
c.3579G>A (p.Glu1193=)
c.3588G>A (p.Glu1196=)
c.2934G>A (p.Glu978=)
c.3378G>A (p.Glu1126=)
9g.135786463G>CCA375492222KCNT1c.3444G>C (p.Glu1148Asp)
c.3285G>C (p.Glu1095Asp)
c.3192G>C (p.Glu1064Asp)
c.3201G>C (p.Glu1067Asp)
c.3345G>C (p.Glu1115Asp)
c.*3054G>C (n.*3054G>C)
c.3327G>C (p.Glu1109Asp)
c.3366G>C (p.Glu1122Asp)
c.3381G>C (p.Glu1127Asp)
c.3387G>C (p.Glu1129Asp)
c.3309G>C (p.Glu1103Asp)
c.3279G>C (p.Glu1093Asp)
c.3579G>C (p.Glu1193Asp)
c.3588G>C (p.Glu1196Asp)
c.2934G>C (p.Glu978Asp)
c.3378G>C (p.Glu1126Asp)
9g.135786463G>TCA375492223KCNT1c.3444G>T (p.Glu1148Asp)
c.3285G>T (p.Glu1095Asp)
c.3192G>T (p.Glu1064Asp)
c.3201G>T (p.Glu1067Asp)
c.3345G>T (p.Glu1115Asp)
c.*3054G>T (n.*3054G>T)
c.3327G>T (p.Glu1109Asp)
c.3366G>T (p.Glu1122Asp)
c.3381G>T (p.Glu1127Asp)
c.3387G>T (p.Glu1129Asp)
c.3309G>T (p.Glu1103Asp)
c.3279G>T (p.Glu1093Asp)
c.3579G>T (p.Glu1193Asp)
c.3588G>T (p.Glu1196Asp)
c.2934G>T (p.Glu978Asp)
c.3378G>T (p.Glu1126Asp)
 gnomAD v4
9g.135786464C>ACA375492224KCNT1c.3445C>A (p.Leu1149Ile)
c.3286C>A (p.Leu1096Ile)
c.3193C>A (p.Leu1065Ile)
c.3202C>A (p.Leu1068Ile)
c.3346C>A (p.Leu1116Ile)
c.*3055C>A (n.*3055C>A)
c.3328C>A (p.Leu1110Ile)
c.3367C>A (p.Leu1123Ile)
c.3382C>A (p.Leu1128Ile)
c.3388C>A (p.Leu1130Ile)
c.3310C>A (p.Leu1104Ile)
c.3280C>A (p.Leu1094Ile)
c.3580C>A (p.Leu1194Ile)
c.3589C>A (p.Leu1197Ile)
c.2935C>A (p.Leu979Ile)
c.3379C>A (p.Leu1127Ile)
 gnomAD v4
9g.135786464C=CA1883888415KCNT1c.3445C= (p.Leu1149=)
c.3286C= (p.Leu1096=)
c.3193C= (p.Leu1065=)
c.3202C= (p.Leu1068=)
c.3346C= (p.Leu1116=)
c.*3055C= (n.*3055C=)
c.3328C= (p.Leu1110=)
c.3367C= (p.Leu1123=)
c.3382C= (p.Leu1128=)
c.3388C= (p.Leu1130=)
c.3310C= (p.Leu1104=)
c.3280C= (p.Leu1094=)
c.3580C= (p.Leu1194=)
c.3589C= (p.Leu1197=)
c.2935C= (p.Leu979=)
c.3379C= (p.Leu1127=)
9g.135786464C>GCA375492225KCNT1c.3445C>G (p.Leu1149Val)
c.3286C>G (p.Leu1096Val)
c.3193C>G (p.Leu1065Val)
c.3202C>G (p.Leu1068Val)
c.3346C>G (p.Leu1116Val)
c.*3055C>G (n.*3055C>G)
c.3328C>G (p.Leu1110Val)
c.3367C>G (p.Leu1123Val)
c.3382C>G (p.Leu1128Val)
c.3388C>G (p.Leu1130Val)
c.3310C>G (p.Leu1104Val)
c.3280C>G (p.Leu1094Val)
c.3580C>G (p.Leu1194Val)
c.3589C>G (p.Leu1197Val)
c.2935C>G (p.Leu979Val)
c.3379C>G (p.Leu1127Val)
9g.135786464C>TCA375492226KCNT1c.3445C>T (p.Leu1149Phe)
c.3286C>T (p.Leu1096Phe)
c.3193C>T (p.Leu1065Phe)
c.3202C>T (p.Leu1068Phe)
c.3346C>T (p.Leu1116Phe)
c.*3055C>T (n.*3055C>T)
c.3328C>T (p.Leu1110Phe)
c.3367C>T (p.Leu1123Phe)
c.3382C>T (p.Leu1128Phe)
c.3388C>T (p.Leu1130Phe)
c.3310C>T (p.Leu1104Phe)
c.3280C>T (p.Leu1094Phe)
c.3580C>T (p.Leu1194Phe)
c.3589C>T (p.Leu1197Phe)
c.2935C>T (p.Leu979Phe)
c.3379C>T (p.Leu1127Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135786465T>ACA375492228KCNT1c.3446T>A (p.Leu1149His)
c.3287T>A (p.Leu1096His)
c.3194T>A (p.Leu1065His)
c.3203T>A (p.Leu1068His)
c.3347T>A (p.Leu1116His)
c.*3056T>A (n.*3056T>A)
c.3329T>A (p.Leu1110His)
c.3368T>A (p.Leu1123His)
c.3383T>A (p.Leu1128His)
c.3389T>A (p.Leu1130His)
c.3311T>A (p.Leu1104His)
c.3281T>A (p.Leu1094His)
c.3581T>A (p.Leu1194His)
c.3590T>A (p.Leu1197His)
c.2936T>A (p.Leu979His)
c.3380T>A (p.Leu1127His)
9g.135786465T>CCA375492229KCNT1c.3446T>C (p.Leu1149Pro)
c.3287T>C (p.Leu1096Pro)
c.3194T>C (p.Leu1065Pro)
c.3203T>C (p.Leu1068Pro)
c.3347T>C (p.Leu1116Pro)
c.*3056T>C (n.*3056T>C)
c.3329T>C (p.Leu1110Pro)
c.3368T>C (p.Leu1123Pro)
c.3383T>C (p.Leu1128Pro)
c.3389T>C (p.Leu1130Pro)
c.3311T>C (p.Leu1104Pro)
c.3281T>C (p.Leu1094Pro)
c.3581T>C (p.Leu1194Pro)
c.3590T>C (p.Leu1197Pro)
c.2936T>C (p.Leu979Pro)
c.3380T>C (p.Leu1127Pro)
9g.135786465T>GCA375492227KCNT1c.3446T>G (p.Leu1149Arg)
c.3287T>G (p.Leu1096Arg)
c.3194T>G (p.Leu1065Arg)
c.3203T>G (p.Leu1068Arg)
c.3347T>G (p.Leu1116Arg)
c.*3056T>G (n.*3056T>G)
c.3329T>G (p.Leu1110Arg)
c.3368T>G (p.Leu1123Arg)
c.3383T>G (p.Leu1128Arg)
c.3389T>G (p.Leu1130Arg)
c.3311T>G (p.Leu1104Arg)
c.3281T>G (p.Leu1094Arg)
c.3581T>G (p.Leu1194Arg)
c.3590T>G (p.Leu1197Arg)
c.2936T>G (p.Leu979Arg)
c.3380T>G (p.Leu1127Arg)
9g.135786466C>ACA467821313KCNT1c.3447C>A (p.Leu1149=)
c.3288C>A (p.Leu1096=)
c.3195C>A (p.Leu1065=)
c.3204C>A (p.Leu1068=)
c.3348C>A (p.Leu1116=)
c.*3057C>A (n.*3057C>A)
c.3330C>A (p.Leu1110=)
c.3369C>A (p.Leu1123=)
c.3384C>A (p.Leu1128=)
c.3390C>A (p.Leu1130=)
c.3312C>A (p.Leu1104=)
c.3282C>A (p.Leu1094=)
c.3582C>A (p.Leu1194=)
c.3591C>A (p.Leu1197=)
c.2937C>A (p.Leu979=)
c.3381C>A (p.Leu1127=)
 gnomAD v4
9g.135786466C=CA1883888418KCNT1c.3447C= (p.Leu1149=)
c.3288C= (p.Leu1096=)
c.3195C= (p.Leu1065=)
c.3204C= (p.Leu1068=)
c.3348C= (p.Leu1116=)
c.*3057C= (n.*3057C=)
c.3330C= (p.Leu1110=)
c.3369C= (p.Leu1123=)
c.3384C= (p.Leu1128=)
c.3390C= (p.Leu1130=)
c.3312C= (p.Leu1104=)
c.3282C= (p.Leu1094=)
c.3582C= (p.Leu1194=)
c.3591C= (p.Leu1197=)
c.2937C= (p.Leu979=)
c.3381C= (p.Leu1127=)
9g.135786466C>GCA5327820KCNT1c.3447C>G (p.Leu1149=)
c.3288C>G (p.Leu1096=)
c.3195C>G (p.Leu1065=)
c.3204C>G (p.Leu1068=)
c.3348C>G (p.Leu1116=)
c.*3057C>G (n.*3057C>G)
c.3330C>G (p.Leu1110=)
c.3369C>G (p.Leu1123=)
c.3384C>G (p.Leu1128=)
c.3390C>G (p.Leu1130=)
c.3312C>G (p.Leu1104=)
c.3282C>G (p.Leu1094=)
c.3582C>G (p.Leu1194=)
c.3591C>G (p.Leu1197=)
c.2937C>G (p.Leu979=)
c.3381C>G (p.Leu1127=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135786466C>TCA467821314KCNT1c.3447C>T (p.Leu1149=)
c.3288C>T (p.Leu1096=)
c.3195C>T (p.Leu1065=)
c.3204C>T (p.Leu1068=)
c.3348C>T (p.Leu1116=)
c.*3057C>T (n.*3057C>T)
c.3330C>T (p.Leu1110=)
c.3369C>T (p.Leu1123=)
c.3384C>T (p.Leu1128=)
c.3390C>T (p.Leu1130=)
c.3312C>T (p.Leu1104=)
c.3282C>T (p.Leu1094=)
c.3582C>T (p.Leu1194=)
c.3591C>T (p.Leu1197=)
c.2937C>T (p.Leu979=)
c.3381C>T (p.Leu1127=)
 gnomAD v4
9g.135786467T>ACA375492230KCNT1c.3448T>A (p.Ser1150Thr)
c.3289T>A (p.Ser1097Thr)
c.3196T>A (p.Ser1066Thr)
c.3205T>A (p.Ser1069Thr)
c.3349T>A (p.Ser1117Thr)
c.*3058T>A (n.*3058T>A)
c.3331T>A (p.Ser1111Thr)
c.3370T>A (p.Ser1124Thr)
c.3385T>A (p.Ser1129Thr)
c.3391T>A (p.Ser1131Thr)
c.3313T>A (p.Ser1105Thr)
c.3283T>A (p.Ser1095Thr)
c.3583T>A (p.Ser1195Thr)
c.3592T>A (p.Ser1198Thr)
c.2938T>A (p.Ser980Thr)
c.3382T>A (p.Ser1128Thr)
 gnomAD v4
9g.135786467T>CCA375492231KCNT1c.3448T>C (p.Ser1150Pro)
c.3289T>C (p.Ser1097Pro)
c.3196T>C (p.Ser1066Pro)
c.3205T>C (p.Ser1069Pro)
c.3349T>C (p.Ser1117Pro)
c.*3058T>C (n.*3058T>C)
c.3331T>C (p.Ser1111Pro)
c.3370T>C (p.Ser1124Pro)
c.3385T>C (p.Ser1129Pro)
c.3391T>C (p.Ser1131Pro)
c.3313T>C (p.Ser1105Pro)
c.3283T>C (p.Ser1095Pro)
c.3583T>C (p.Ser1195Pro)
c.3592T>C (p.Ser1198Pro)
c.2938T>C (p.Ser980Pro)
c.3382T>C (p.Ser1128Pro)
9g.135786467T>GCA375492233KCNT1c.3448T>G (p.Ser1150Ala)
c.3289T>G (p.Ser1097Ala)
c.3196T>G (p.Ser1066Ala)
c.3205T>G (p.Ser1069Ala)
c.3349T>G (p.Ser1117Ala)
c.*3058T>G (n.*3058T>G)
c.3331T>G (p.Ser1111Ala)
c.3370T>G (p.Ser1124Ala)
c.3385T>G (p.Ser1129Ala)
c.3391T>G (p.Ser1131Ala)
c.3313T>G (p.Ser1105Ala)
c.3283T>G (p.Ser1095Ala)
c.3583T>G (p.Ser1195Ala)
c.3592T>G (p.Ser1198Ala)
c.2938T>G (p.Ser980Ala)
c.3382T>G (p.Ser1128Ala)
9g.135786468C>ACA375492236KCNT1c.3449C>A (p.Ser1150Tyr)
c.3290C>A (p.Ser1097Tyr)
c.3197C>A (p.Ser1066Tyr)
c.3206C>A (p.Ser1069Tyr)
c.3350C>A (p.Ser1117Tyr)
c.*3059C>A (n.*3059C>A)
c.3332C>A (p.Ser1111Tyr)
c.3371C>A (p.Ser1124Tyr)
c.3386C>A (p.Ser1129Tyr)
c.3392C>A (p.Ser1131Tyr)
c.3314C>A (p.Ser1105Tyr)
c.3284C>A (p.Ser1095Tyr)
c.3584C>A (p.Ser1195Tyr)
c.3593C>A (p.Ser1198Tyr)
c.2939C>A (p.Ser980Tyr)
c.3383C>A (p.Ser1128Tyr)
 gnomAD v4
9g.135786468C>GCA375492238KCNT1c.3449C>G (p.Ser1150Cys)
c.3290C>G (p.Ser1097Cys)
c.3197C>G (p.Ser1066Cys)
c.3206C>G (p.Ser1069Cys)
c.3350C>G (p.Ser1117Cys)
c.*3059C>G (n.*3059C>G)
c.3332C>G (p.Ser1111Cys)
c.3371C>G (p.Ser1124Cys)
c.3386C>G (p.Ser1129Cys)
c.3392C>G (p.Ser1131Cys)
c.3314C>G (p.Ser1105Cys)
c.3284C>G (p.Ser1095Cys)
c.3584C>G (p.Ser1195Cys)
c.3593C>G (p.Ser1198Cys)
c.2939C>G (p.Ser980Cys)
c.3383C>G (p.Ser1128Cys)
9g.135786468C>TCA375492242KCNT1c.3449C>T (p.Ser1150Phe)
c.3290C>T (p.Ser1097Phe)
c.3197C>T (p.Ser1066Phe)
c.3206C>T (p.Ser1069Phe)
c.3350C>T (p.Ser1117Phe)
c.*3059C>T (n.*3059C>T)
c.3332C>T (p.Ser1111Phe)
c.3371C>T (p.Ser1124Phe)
c.3386C>T (p.Ser1129Phe)
c.3392C>T (p.Ser1131Phe)
c.3314C>T (p.Ser1105Phe)
c.3284C>T (p.Ser1095Phe)
c.3584C>T (p.Ser1195Phe)
c.3593C>T (p.Ser1198Phe)
c.2939C>T (p.Ser980Phe)
c.3383C>T (p.Ser1128Phe)
 COSMIC COSMIC
9g.135786469C>ACA16605462KCNT1c.3450C>A (p.Ser1150=)
c.3291C>A (p.Ser1097=)
c.3198C>A (p.Ser1066=)
c.3207C>A (p.Ser1069=)
c.3351C>A (p.Ser1117=)
c.*3060C>A (n.*3060C>A)
c.3333C>A (p.Ser1111=)
c.3372C>A (p.Ser1124=)
c.3387C>A (p.Ser1129=)
c.3393C>A (p.Ser1131=)
c.3315C>A (p.Ser1105=)
c.3285C>A (p.Ser1095=)
c.3585C>A (p.Ser1195=)
c.3594C>A (p.Ser1198=)
c.2940C>A (p.Ser980=)
c.3384C>A (p.Ser1128=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.135786469C=CA1883888425KCNT1c.3450C= (p.Ser1150=)
c.3291C= (p.Ser1097=)
c.3198C= (p.Ser1066=)
c.3207C= (p.Ser1069=)
c.3351C= (p.Ser1117=)
c.*3060C= (n.*3060C=)
c.3333C= (p.Ser1111=)
c.3372C= (p.Ser1124=)
c.3387C= (p.Ser1129=)
c.3393C= (p.Ser1131=)
c.3315C= (p.Ser1105=)
c.3285C= (p.Ser1095=)
c.3585C= (p.Ser1195=)
c.3594C= (p.Ser1198=)
c.2940C= (p.Ser980=)
c.3384C= (p.Ser1128=)
9g.135786469C>GCA467821315KCNT1c.3450C>G (p.Ser1150=)
c.3291C>G (p.Ser1097=)
c.3198C>G (p.Ser1066=)
c.3207C>G (p.Ser1069=)
c.3351C>G (p.Ser1117=)
c.*3060C>G (n.*3060C>G)
c.3333C>G (p.Ser1111=)
c.3372C>G (p.Ser1124=)
c.3387C>G (p.Ser1129=)
c.3393C>G (p.Ser1131=)
c.3315C>G (p.Ser1105=)
c.3285C>G (p.Ser1095=)
c.3585C>G (p.Ser1195=)
c.3594C>G (p.Ser1198=)
c.2940C>G (p.Ser980=)
c.3384C>G (p.Ser1128=)
9g.135786469C>TCA5327821KCNT1c.3450C>T (p.Ser1150=)
c.3291C>T (p.Ser1097=)
c.3198C>T (p.Ser1066=)
c.3207C>T (p.Ser1069=)
c.3351C>T (p.Ser1117=)
c.*3060C>T (n.*3060C>T)
c.3333C>T (p.Ser1111=)
c.3372C>T (p.Ser1124=)
c.3387C>T (p.Ser1129=)
c.3393C>T (p.Ser1131=)
c.3315C>T (p.Ser1105=)
c.3285C>T (p.Ser1095=)
c.3585C>T (p.Ser1195=)
c.3594C>T (p.Ser1198=)
c.2940C>T (p.Ser980=)
c.3384C>T (p.Ser1128=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786470G>ACA5327822KCNT1c.3451G>A (p.Glu1151Lys)
c.3292G>A (p.Glu1098Lys)
c.3199G>A (p.Glu1067Lys)
c.3208G>A (p.Glu1070Lys)
c.3352G>A (p.Glu1118Lys)
c.*3061G>A (n.*3061G>A)
c.3334G>A (p.Glu1112Lys)
c.3373G>A (p.Glu1125Lys)
c.3388G>A (p.Glu1130Lys)
c.3394G>A (p.Glu1132Lys)
c.3316G>A (p.Glu1106Lys)
c.3286G>A (p.Glu1096Lys)
c.3586G>A (p.Glu1196Lys)
c.3595G>A (p.Glu1199Lys)
c.2941G>A (p.Glu981Lys)
c.3385G>A (p.Glu1129Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135786470G>CCA375492249KCNT1c.3451G>C (p.Glu1151Gln)
c.3292G>C (p.Glu1098Gln)
c.3199G>C (p.Glu1067Gln)
c.3208G>C (p.Glu1070Gln)
c.3352G>C (p.Glu1118Gln)
c.*3061G>C (n.*3061G>C)
c.3334G>C (p.Glu1112Gln)
c.3373G>C (p.Glu1125Gln)
c.3388G>C (p.Glu1130Gln)
c.3394G>C (p.Glu1132Gln)
c.3316G>C (p.Glu1106Gln)
c.3286G>C (p.Glu1096Gln)
c.3586G>C (p.Glu1196Gln)
c.3595G>C (p.Glu1199Gln)
c.2941G>C (p.Glu981Gln)
c.3385G>C (p.Glu1129Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.135786470G=CA1883888431KCNT1c.3451G= (p.Glu1151=)
c.3292G= (p.Glu1098=)
c.3199G= (p.Glu1067=)
c.3208G= (p.Glu1070=)
c.3352G= (p.Glu1118=)
c.*3061G= (n.*3061G=)
c.3334G= (p.Glu1112=)
c.3373G= (p.Glu1125=)
c.3388G= (p.Glu1130=)
c.3394G= (p.Glu1132=)
c.3316G= (p.Glu1106=)
c.3286G= (p.Glu1096=)
c.3586G= (p.Glu1196=)
c.3595G= (p.Glu1199=)
c.2941G= (p.Glu981=)
c.3385G= (p.Glu1129=)
9g.135786470G>TCA375492252KCNT1c.3451G>T (p.Glu1151Ter)
c.3292G>T (p.Glu1098Ter)
c.3199G>T (p.Glu1067Ter)
c.3208G>T (p.Glu1070Ter)
c.3352G>T (p.Glu1118Ter)
c.*3061G>T (n.*3061G>T)
c.3334G>T (p.Glu1112Ter)
c.3373G>T (p.Glu1125Ter)
c.3388G>T (p.Glu1130Ter)
c.3394G>T (p.Glu1132Ter)
c.3316G>T (p.Glu1106Ter)
c.3286G>T (p.Glu1096Ter)
c.3586G>T (p.Glu1196Ter)
c.3595G>T (p.Glu1199Ter)
c.2941G>T (p.Glu981Ter)
c.3385G>T (p.Glu1129Ter)
 gnomAD v4
9g.135786471A>CCA375492256KCNT1c.3452A>C (p.Glu1151Ala)
c.3293A>C (p.Glu1098Ala)
c.3200A>C (p.Glu1067Ala)
c.3209A>C (p.Glu1070Ala)
c.3353A>C (p.Glu1118Ala)
c.*3062A>C (n.*3062A>C)
c.3335A>C (p.Glu1112Ala)
c.3374A>C (p.Glu1125Ala)
c.3389A>C (p.Glu1130Ala)
c.3395A>C (p.Glu1132Ala)
c.3317A>C (p.Glu1106Ala)
c.3287A>C (p.Glu1096Ala)
c.3587A>C (p.Glu1196Ala)
c.3596A>C (p.Glu1199Ala)
c.2942A>C (p.Glu981Ala)
c.3386A>C (p.Glu1129Ala)
9g.135786471A>GCA375492258KCNT1c.3452A>G (p.Glu1151Gly)
c.3293A>G (p.Glu1098Gly)
c.3200A>G (p.Glu1067Gly)
c.3209A>G (p.Glu1070Gly)
c.3353A>G (p.Glu1118Gly)
c.*3062A>G (n.*3062A>G)
c.3335A>G (p.Glu1112Gly)
c.3374A>G (p.Glu1125Gly)
c.3389A>G (p.Glu1130Gly)
c.3395A>G (p.Glu1132Gly)
c.3317A>G (p.Glu1106Gly)
c.3287A>G (p.Glu1096Gly)
c.3587A>G (p.Glu1196Gly)
c.3596A>G (p.Glu1199Gly)
c.2942A>G (p.Glu981Gly)
c.3386A>G (p.Glu1129Gly)
9g.135786471A>TCA375492260KCNT1c.3452A>T (p.Glu1151Val)
c.3293A>T (p.Glu1098Val)
c.3200A>T (p.Glu1067Val)
c.3209A>T (p.Glu1070Val)
c.3353A>T (p.Glu1118Val)
c.*3062A>T (n.*3062A>T)
c.3335A>T (p.Glu1112Val)
c.3374A>T (p.Glu1125Val)
c.3389A>T (p.Glu1130Val)
c.3395A>T (p.Glu1132Val)
c.3317A>T (p.Glu1106Val)
c.3287A>T (p.Glu1096Val)
c.3587A>T (p.Glu1196Val)
c.3596A>T (p.Glu1199Val)
c.2942A>T (p.Glu981Val)
c.3386A>T (p.Glu1129Val)
9g.135786472G>ACA467821316KCNT1c.3453G>A (p.Glu1151=)
c.3294G>A (p.Glu1098=)
c.3201G>A (p.Glu1067=)
c.3210G>A (p.Glu1070=)
c.3354G>A (p.Glu1118=)
c.*3063G>A (n.*3063G>A)
c.3336G>A (p.Glu1112=)
c.3375G>A (p.Glu1125=)
c.3390G>A (p.Glu1130=)
c.3396G>A (p.Glu1132=)
c.3318G>A (p.Glu1106=)
c.3288G>A (p.Glu1096=)
c.3588G>A (p.Glu1196=)
c.3597G>A (p.Glu1199=)
c.2943G>A (p.Glu981=)
c.3387G>A (p.Glu1129=)
 dbSNP gnomAD v3 gnomAD v4
9g.135786472G>CCA375492265KCNT1c.3453G>C (p.Glu1151Asp)
c.3294G>C (p.Glu1098Asp)
c.3201G>C (p.Glu1067Asp)
c.3210G>C (p.Glu1070Asp)
c.3354G>C (p.Glu1118Asp)
c.*3063G>C (n.*3063G>C)
c.3336G>C (p.Glu1112Asp)
c.3375G>C (p.Glu1125Asp)
c.3390G>C (p.Glu1130Asp)
c.3396G>C (p.Glu1132Asp)
c.3318G>C (p.Glu1106Asp)
c.3288G>C (p.Glu1096Asp)
c.3588G>C (p.Glu1196Asp)
c.3597G>C (p.Glu1199Asp)
c.2943G>C (p.Glu981Asp)
c.3387G>C (p.Glu1129Asp)
 gnomAD v4
9g.135786472G=CA1883888437KCNT1c.3453G= (p.Glu1151=)
c.3294G= (p.Glu1098=)
c.3201G= (p.Glu1067=)
c.3210G= (p.Glu1070=)
c.3354G= (p.Glu1118=)
c.*3063G= (n.*3063G=)
c.3336G= (p.Glu1112=)
c.3375G= (p.Glu1125=)
c.3390G= (p.Glu1130=)
c.3396G= (p.Glu1132=)
c.3318G= (p.Glu1106=)
c.3288G= (p.Glu1096=)
c.3588G= (p.Glu1196=)
c.3597G= (p.Glu1199=)
c.2943G= (p.Glu981=)
c.3387G= (p.Glu1129=)
9g.135786472G>TCA375492262KCNT1c.3453G>T (p.Glu1151Asp)
c.3294G>T (p.Glu1098Asp)
c.3201G>T (p.Glu1067Asp)
c.3210G>T (p.Glu1070Asp)
c.3354G>T (p.Glu1118Asp)
c.*3063G>T (n.*3063G>T)
c.3336G>T (p.Glu1112Asp)
c.3375G>T (p.Glu1125Asp)
c.3390G>T (p.Glu1130Asp)
c.3396G>T (p.Glu1132Asp)
c.3318G>T (p.Glu1106Asp)
c.3288G>T (p.Glu1096Asp)
c.3588G>T (p.Glu1196Asp)
c.3597G>T (p.Glu1199Asp)
c.2943G>T (p.Glu981Asp)
c.3387G>T (p.Glu1129Asp)
 gnomAD v4
9g.135786473C>ACA375492267KCNT1c.3454C>A (p.Leu1152Met)
c.3295C>A (p.Leu1099Met)
c.3202C>A (p.Leu1068Met)
c.3211C>A (p.Leu1071Met)
c.3355C>A (p.Leu1119Met)
c.*3064C>A (n.*3064C>A)
c.3337C>A (p.Leu1113Met)
c.3376C>A (p.Leu1126Met)
c.3391C>A (p.Leu1131Met)
c.3397C>A (p.Leu1133Met)
c.3319C>A (p.Leu1107Met)
c.3289C>A (p.Leu1097Met)
c.3589C>A (p.Leu1197Met)
c.3598C>A (p.Leu1200Met)
c.2944C>A (p.Leu982Met)
c.3388C>A (p.Leu1130Met)
 gnomAD v4
9g.135786473C>GCA375492270KCNT1c.3454C>G (p.Leu1152Val)
c.3295C>G (p.Leu1099Val)
c.3202C>G (p.Leu1068Val)
c.3211C>G (p.Leu1071Val)
c.3355C>G (p.Leu1119Val)
c.*3064C>G (n.*3064C>G)
c.3337C>G (p.Leu1113Val)
c.3376C>G (p.Leu1126Val)
c.3391C>G (p.Leu1131Val)
c.3397C>G (p.Leu1133Val)
c.3319C>G (p.Leu1107Val)
c.3289C>G (p.Leu1097Val)
c.3589C>G (p.Leu1197Val)
c.3598C>G (p.Leu1200Val)
c.2944C>G (p.Leu982Val)
c.3388C>G (p.Leu1130Val)
9g.135786473C>TCA467821317KCNT1c.3454C>T (p.Leu1152=)
c.3295C>T (p.Leu1099=)
c.3202C>T (p.Leu1068=)
c.3211C>T (p.Leu1071=)
c.3355C>T (p.Leu1119=)
c.*3064C>T (n.*3064C>T)
c.3337C>T (p.Leu1113=)
c.3376C>T (p.Leu1126=)
c.3391C>T (p.Leu1131=)
c.3397C>T (p.Leu1133=)
c.3319C>T (p.Leu1107=)
c.3289C>T (p.Leu1097=)
c.3589C>T (p.Leu1197=)
c.3598C>T (p.Leu1200=)
c.2944C>T (p.Leu982=)
c.3388C>T (p.Leu1130=)
 gnomAD v4
9g.135786474T>ACA375492273KCNT1c.3455T>A (p.Leu1152Gln)
c.3296T>A (p.Leu1099Gln)
c.3203T>A (p.Leu1068Gln)
c.3212T>A (p.Leu1071Gln)
c.3356T>A (p.Leu1119Gln)
c.*3065T>A (n.*3065T>A)
c.3338T>A (p.Leu1113Gln)
c.3377T>A (p.Leu1126Gln)
c.3392T>A (p.Leu1131Gln)
c.3398T>A (p.Leu1133Gln)
c.3320T>A (p.Leu1107Gln)
c.3290T>A (p.Leu1097Gln)
c.3590T>A (p.Leu1197Gln)
c.3599T>A (p.Leu1200Gln)
c.2945T>A (p.Leu982Gln)
c.3389T>A (p.Leu1130Gln)
9g.135786474T>CCA375492275KCNT1c.3455T>C (p.Leu1152Pro)
c.3296T>C (p.Leu1099Pro)
c.3203T>C (p.Leu1068Pro)
c.3212T>C (p.Leu1071Pro)
c.3356T>C (p.Leu1119Pro)
c.*3065T>C (n.*3065T>C)
c.3338T>C (p.Leu1113Pro)
c.3377T>C (p.Leu1126Pro)
c.3392T>C (p.Leu1131Pro)
c.3398T>C (p.Leu1133Pro)
c.3320T>C (p.Leu1107Pro)
c.3290T>C (p.Leu1097Pro)
c.3590T>C (p.Leu1197Pro)
c.3599T>C (p.Leu1200Pro)
c.2945T>C (p.Leu982Pro)
c.3389T>C (p.Leu1130Pro)
 gnomAD v4
9g.135786474T>GCA375492278KCNT1c.3455T>G (p.Leu1152Arg)
c.3296T>G (p.Leu1099Arg)
c.3203T>G (p.Leu1068Arg)
c.3212T>G (p.Leu1071Arg)
c.3356T>G (p.Leu1119Arg)
c.*3065T>G (n.*3065T>G)
c.3338T>G (p.Leu1113Arg)
c.3377T>G (p.Leu1126Arg)
c.3392T>G (p.Leu1131Arg)
c.3398T>G (p.Leu1133Arg)
c.3320T>G (p.Leu1107Arg)
c.3290T>G (p.Leu1097Arg)
c.3590T>G (p.Leu1197Arg)
c.3599T>G (p.Leu1200Arg)
c.2945T>G (p.Leu982Arg)
c.3389T>G (p.Leu1130Arg)
9g.135786475G>ACA467821318KCNT1c.3456G>A (p.Leu1152=)
c.3297G>A (p.Leu1099=)
c.3204G>A (p.Leu1068=)
c.3213G>A (p.Leu1071=)
c.3357G>A (p.Leu1119=)
c.*3066G>A (n.*3066G>A)
c.3339G>A (p.Leu1113=)
c.3378G>A (p.Leu1126=)
c.3393G>A (p.Leu1131=)
c.3399G>A (p.Leu1133=)
c.3321G>A (p.Leu1107=)
c.3291G>A (p.Leu1097=)
c.3591G>A (p.Leu1197=)
c.3600G>A (p.Leu1200=)
c.2946G>A (p.Leu982=)
c.3390G>A (p.Leu1130=)
 gnomAD v4
9g.135786475G>CCA467821319KCNT1c.3456G>C (p.Leu1152=)
c.3297G>C (p.Leu1099=)
c.3204G>C (p.Leu1068=)
c.3213G>C (p.Leu1071=)
c.3357G>C (p.Leu1119=)
c.*3066G>C (n.*3066G>C)
c.3339G>C (p.Leu1113=)
c.3378G>C (p.Leu1126=)
c.3393G>C (p.Leu1131=)
c.3399G>C (p.Leu1133=)
c.3321G>C (p.Leu1107=)
c.3291G>C (p.Leu1097=)
c.3591G>C (p.Leu1197=)
c.3600G>C (p.Leu1200=)
c.2946G>C (p.Leu982=)
c.3390G>C (p.Leu1130=)
9g.135786475G=CA1883888441KCNT1c.3456G= (p.Leu1152=)
c.3297G= (p.Leu1099=)
c.3204G= (p.Leu1068=)
c.3213G= (p.Leu1071=)
c.3357G= (p.Leu1119=)
c.*3066G= (n.*3066G=)
c.3339G= (p.Leu1113=)
c.3378G= (p.Leu1126=)
c.3393G= (p.Leu1131=)
c.3399G= (p.Leu1133=)
c.3321G= (p.Leu1107=)
c.3291G= (p.Leu1097=)
c.3591G= (p.Leu1197=)
c.3600G= (p.Leu1200=)
c.2946G= (p.Leu982=)
c.3390G= (p.Leu1130=)
9g.135786475G>TCA467821320KCNT1c.3456G>T (p.Leu1152=)
c.3297G>T (p.Leu1099=)
c.3204G>T (p.Leu1068=)
c.3213G>T (p.Leu1071=)
c.3357G>T (p.Leu1119=)
c.*3066G>T (n.*3066G>T)
c.3339G>T (p.Leu1113=)
c.3378G>T (p.Leu1126=)
c.3393G>T (p.Leu1131=)
c.3399G>T (p.Leu1133=)
c.3321G>T (p.Leu1107=)
c.3291G>T (p.Leu1097=)
c.3591G>T (p.Leu1197=)
c.3600G>T (p.Leu1200=)
c.2946G>T (p.Leu982=)
c.3390G>T (p.Leu1130=)
 dbSNP gnomAD v4
9g.135786476G>ACA375492292KCNT1c.3457G>A (p.Val1153Met)
c.3298G>A (p.Val1100Met)
c.3205G>A (p.Val1069Met)
c.3214G>A (p.Val1072Met)
c.3358G>A (p.Val1120Met)
c.*3067G>A (n.*3067G>A)
c.3340G>A (p.Val1114Met)
c.3379G>A (p.Val1127Met)
c.3394G>A (p.Val1132Met)
c.3400G>A (p.Val1134Met)
c.3322G>A (p.Val1108Met)
c.3292G>A (p.Val1098Met)
c.3592G>A (p.Val1198Met)
c.3601G>A (p.Val1201Met)
c.2947G>A (p.Val983Met)
c.3391G>A (p.Val1131Met)
 gnomAD v4
9g.135786476G>CCA375492290KCNT1c.3457G>C (p.Val1153Leu)
c.3298G>C (p.Val1100Leu)
c.3205G>C (p.Val1069Leu)
c.3214G>C (p.Val1072Leu)
c.3358G>C (p.Val1120Leu)
c.*3067G>C (n.*3067G>C)
c.3340G>C (p.Val1114Leu)
c.3379G>C (p.Val1127Leu)
c.3394G>C (p.Val1132Leu)
c.3400G>C (p.Val1134Leu)
c.3322G>C (p.Val1108Leu)
c.3292G>C (p.Val1098Leu)
c.3592G>C (p.Val1198Leu)
c.3601G>C (p.Val1201Leu)
c.2947G>C (p.Val983Leu)
c.3391G>C (p.Val1131Leu)
 dbSNP
9g.135786476G=CA1883888444KCNT1c.3457G= (p.Val1153=)
c.3298G= (p.Val1100=)
c.3205G= (p.Val1069=)
c.3214G= (p.Val1072=)
c.3358G= (p.Val1120=)
c.*3067G= (n.*3067G=)
c.3340G= (p.Val1114=)
c.3379G= (p.Val1127=)
c.3394G= (p.Val1132=)
c.3400G= (p.Val1134=)
c.3322G= (p.Val1108=)
c.3292G= (p.Val1098=)
c.3592G= (p.Val1198=)
c.3601G= (p.Val1201=)
c.2947G= (p.Val983=)
c.3391G= (p.Val1131=)
9g.135786476G>TCA375492288KCNT1c.3457G>T (p.Val1153Leu)
c.3298G>T (p.Val1100Leu)
c.3205G>T (p.Val1069Leu)
c.3214G>T (p.Val1072Leu)
c.3358G>T (p.Val1120Leu)
c.*3067G>T (n.*3067G>T)
c.3340G>T (p.Val1114Leu)
c.3379G>T (p.Val1127Leu)
c.3394G>T (p.Val1132Leu)
c.3400G>T (p.Val1134Leu)
c.3322G>T (p.Val1108Leu)
c.3292G>T (p.Val1098Leu)
c.3592G>T (p.Val1198Leu)
c.3601G>T (p.Val1201Leu)
c.2947G>T (p.Val983Leu)
c.3391G>T (p.Val1131Leu)
9g.135786477T>ACA375492295KCNT1c.3458T>A (p.Val1153Glu)
c.3299T>A (p.Val1100Glu)
c.3206T>A (p.Val1069Glu)
c.3215T>A (p.Val1072Glu)
c.3359T>A (p.Val1120Glu)
c.*3068T>A (n.*3068T>A)
c.3341T>A (p.Val1114Glu)
c.3380T>A (p.Val1127Glu)
c.3395T>A (p.Val1132Glu)
c.3401T>A (p.Val1134Glu)
c.3323T>A (p.Val1108Glu)
c.3293T>A (p.Val1098Glu)
c.3593T>A (p.Val1198Glu)
c.3602T>A (p.Val1201Glu)
c.2948T>A (p.Val983Glu)
c.3392T>A (p.Val1131Glu)
9g.135786477T>CCA375492296KCNT1c.3458T>C (p.Val1153Ala)
c.3299T>C (p.Val1100Ala)
c.3206T>C (p.Val1069Ala)
c.3215T>C (p.Val1072Ala)
c.3359T>C (p.Val1120Ala)
c.*3068T>C (n.*3068T>C)
c.3341T>C (p.Val1114Ala)
c.3380T>C (p.Val1127Ala)
c.3395T>C (p.Val1132Ala)
c.3401T>C (p.Val1134Ala)
c.3323T>C (p.Val1108Ala)
c.3293T>C (p.Val1098Ala)
c.3593T>C (p.Val1198Ala)
c.3602T>C (p.Val1201Ala)
c.2948T>C (p.Val983Ala)
c.3392T>C (p.Val1131Ala)
 gnomAD v4
9g.135786477T>GCA375492298KCNT1c.3458T>G (p.Val1153Gly)
c.3299T>G (p.Val1100Gly)
c.3206T>G (p.Val1069Gly)
c.3215T>G (p.Val1072Gly)
c.3359T>G (p.Val1120Gly)
c.*3068T>G (n.*3068T>G)
c.3341T>G (p.Val1114Gly)
c.3380T>G (p.Val1127Gly)
c.3395T>G (p.Val1132Gly)
c.3401T>G (p.Val1134Gly)
c.3323T>G (p.Val1108Gly)
c.3293T>G (p.Val1098Gly)
c.3593T>G (p.Val1198Gly)
c.3602T>G (p.Val1201Gly)
c.2948T>G (p.Val983Gly)
c.3392T>G (p.Val1131Gly)
9g.135786478G>ACA467821321KCNT1c.3459G>A (p.Val1153=)
c.3300G>A (p.Val1100=)
c.3207G>A (p.Val1069=)
c.3216G>A (p.Val1072=)
c.3360G>A (p.Val1120=)
c.*3069G>A (n.*3069G>A)
c.3342G>A (p.Val1114=)
c.3381G>A (p.Val1127=)
c.3396G>A (p.Val1132=)
c.3402G>A (p.Val1134=)
c.3324G>A (p.Val1108=)
c.3294G>A (p.Val1098=)
c.3594G>A (p.Val1198=)
c.3603G>A (p.Val1201=)
c.2949G>A (p.Val983=)
c.3393G>A (p.Val1131=)
 gnomAD v4
9g.135786478G>CCA467821322KCNT1c.3459G>C (p.Val1153=)
c.3300G>C (p.Val1100=)
c.3207G>C (p.Val1069=)
c.3216G>C (p.Val1072=)
c.3360G>C (p.Val1120=)
c.*3069G>C (n.*3069G>C)
c.3342G>C (p.Val1114=)
c.3381G>C (p.Val1127=)
c.3396G>C (p.Val1132=)
c.3402G>C (p.Val1134=)
c.3324G>C (p.Val1108=)
c.3294G>C (p.Val1098=)
c.3594G>C (p.Val1198=)
c.3603G>C (p.Val1201=)
c.2949G>C (p.Val983=)
c.3393G>C (p.Val1131=)
9g.135786478G>TCA467821323KCNT1c.3459G>T (p.Val1153=)
c.3300G>T (p.Val1100=)
c.3207G>T (p.Val1069=)
c.3216G>T (p.Val1072=)
c.3360G>T (p.Val1120=)
c.*3069G>T (n.*3069G>T)
c.3342G>T (p.Val1114=)
c.3381G>T (p.Val1127=)
c.3396G>T (p.Val1132=)
c.3402G>T (p.Val1134=)
c.3324G>T (p.Val1108=)
c.3294G>T (p.Val1098=)
c.3594G>T (p.Val1198=)
c.3603G>T (p.Val1201=)
c.2949G>T (p.Val983=)
c.3393G>T (p.Val1131=)
 gnomAD v4
9g.135786478_135786482delCA2786248177KCNT1c.3459_3463del (p.Lys1154ProfsTer?)
c.3300_3304del (p.Lys1101ProfsTer22)
c.3207_3211del (p.Lys1070ProfsTer?)
c.3207_3211del (p.Lys1070ProfsTer22)
c.3216_3220del (p.Lys1073ProfsTer22)
c.3360_3364del (p.Lys1121ProfsTer22)
c.*3069_*3073del (n.*3069_*3073del)
c.3342_3346del (p.Lys1115ProfsTer22)
c.3459_3463del (p.Lys1154ProfsTer22)
c.3381_3385del (p.Lys1128ProfsTer22)
c.3396_3400del (p.Lys1133ProfsTer22)
c.3402_3406del (p.Lys1135ProfsTer?)
c.3324_3328del (p.Lys1109ProfsTer22)
c.3294_3298del (p.Lys1099ProfsTer22)
c.3402_3406del (p.Lys1135ProfsTer22)
c.3594_3598del (p.Lys1199ProfsTer22)
c.3603_3607del (p.Lys1202ProfsTer?)
c.3594_3598del (p.Lys1199ProfsTer?)
c.2949_2953del (p.Lys984ProfsTer22)
c.3393_3397del (p.Lys1132ProfsTer22)
9g.135786479A=CA1883888460KCNT1c.3460A= (p.Lys1154=)
c.3301A= (p.Lys1101=)
c.3208A= (p.Lys1070=)
c.3217A= (p.Lys1073=)
c.3361A= (p.Lys1121=)
c.*3070A= (n.*3070A=)
c.3343A= (p.Lys1115=)
c.3382A= (p.Lys1128=)
c.3397A= (p.Lys1133=)
c.3403A= (p.Lys1135=)
c.3325A= (p.Lys1109=)
c.3295A= (p.Lys1099=)
c.3595A= (p.Lys1199=)
c.3604A= (p.Lys1202=)
c.2950A= (p.Lys984=)
c.3394A= (p.Lys1132=)
9g.135786479A>CCA5327824KCNT1c.3460A>C (p.Lys1154Gln)
c.3301A>C (p.Lys1101Gln)
c.3208A>C (p.Lys1070Gln)
c.3217A>C (p.Lys1073Gln)
c.3361A>C (p.Lys1121Gln)
c.*3070A>C (n.*3070A>C)
c.3343A>C (p.Lys1115Gln)
c.3382A>C (p.Lys1128Gln)
c.3397A>C (p.Lys1133Gln)
c.3403A>C (p.Lys1135Gln)
c.3325A>C (p.Lys1109Gln)
c.3295A>C (p.Lys1099Gln)
c.3595A>C (p.Lys1199Gln)
c.3604A>C (p.Lys1202Gln)
c.2950A>C (p.Lys984Gln)
c.3394A>C (p.Lys1132Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786479A>GCA5327823KCNT1c.3460A>G (p.Lys1154Glu)
c.3301A>G (p.Lys1101Glu)
c.3208A>G (p.Lys1070Glu)
c.3217A>G (p.Lys1073Glu)
c.3361A>G (p.Lys1121Glu)
c.*3070A>G (n.*3070A>G)
c.3343A>G (p.Lys1115Glu)
c.3382A>G (p.Lys1128Glu)
c.3397A>G (p.Lys1133Glu)
c.3403A>G (p.Lys1135Glu)
c.3325A>G (p.Lys1109Glu)
c.3295A>G (p.Lys1099Glu)
c.3595A>G (p.Lys1199Glu)
c.3604A>G (p.Lys1202Glu)
c.2950A>G (p.Lys984Glu)
c.3394A>G (p.Lys1132Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135786479A>TCA375492306KCNT1c.3460A>T (p.Lys1154Ter)
c.3301A>T (p.Lys1101Ter)
c.3208A>T (p.Lys1070Ter)
c.3217A>T (p.Lys1073Ter)
c.3361A>T (p.Lys1121Ter)
c.*3070A>T (n.*3070A>T)
c.3343A>T (p.Lys1115Ter)
c.3382A>T (p.Lys1128Ter)
c.3397A>T (p.Lys1133Ter)
c.3403A>T (p.Lys1135Ter)
c.3325A>T (p.Lys1109Ter)
c.3295A>T (p.Lys1099Ter)
c.3595A>T (p.Lys1199Ter)
c.3604A>T (p.Lys1202Ter)
c.2950A>T (p.Lys984Ter)
c.3394A>T (p.Lys1132Ter)
9g.135786479_135786480delinsAACA1883888457KCNT1c.3460_3461delinsAA (p.Lys1154=)
c.3301_3302delinsAA (p.Lys1101=)
c.3208_3209delinsAA (p.Lys1070=)
c.3217_3218delinsAA (p.Lys1073=)
c.3361_3362delinsAA (p.Lys1121=)
c.*3070_*3071delinsAA (n.*3070_*3071delinsAA)
c.3343_3344delinsAA (p.Lys1115=)
c.3382_3383delinsAA (p.Lys1128=)
c.3397_3398delinsAA (p.Lys1133=)
c.3403_3404delinsAA (p.Lys1135=)
c.3325_3326delinsAA (p.Lys1109=)
c.3295_3296delinsAA (p.Lys1099=)
c.3595_3596delinsAA (p.Lys1199=)
c.3604_3605delinsAA (p.Lys1202=)
c.2950_2951delinsAA (p.Lys984=)
c.3394_3395delinsAA (p.Lys1132=)
9g.135786479_135786480delinsGTCA1883888459KCNT1c.3460_3461delinsGT (p.Lys1154Val)
c.3301_3302delinsGT (p.Lys1101Val)
c.3208_3209delinsGT (p.Lys1070Val)
c.3217_3218delinsGT (p.Lys1073Val)
c.3361_3362delinsGT (p.Lys1121Val)
c.*3070_*3071delinsGT (n.*3070_*3071delinsGT)
c.3343_3344delinsGT (p.Lys1115Val)
c.3382_3383delinsGT (p.Lys1128Val)
c.3397_3398delinsGT (p.Lys1133Val)
c.3403_3404delinsGT (p.Lys1135Val)
c.3325_3326delinsGT (p.Lys1109Val)
c.3295_3296delinsGT (p.Lys1099Val)
c.3595_3596delinsGT (p.Lys1199Val)
c.3604_3605delinsGT (p.Lys1202Val)
c.2950_2951delinsGT (p.Lys984Val)
c.3394_3395delinsGT (p.Lys1132Val)
 ClinVar dbSNP
9g.135786480A=CA1883888470KCNT1c.3461A= (p.Lys1154=)
c.3302A= (p.Lys1101=)
c.3209A= (p.Lys1070=)
c.3218A= (p.Lys1073=)
c.3362A= (p.Lys1121=)
c.*3071A= (n.*3071A=)
c.3344A= (p.Lys1115=)
c.3383A= (p.Lys1128=)
c.3398A= (p.Lys1133=)
c.3404A= (p.Lys1135=)
c.3326A= (p.Lys1109=)
c.3296A= (p.Lys1099=)
c.3596A= (p.Lys1199=)
c.3605A= (p.Lys1202=)
c.2951A= (p.Lys984=)
c.3395A= (p.Lys1132=)
9g.135786480A>CCA375492313KCNT1c.3461A>C (p.Lys1154Thr)
c.3302A>C (p.Lys1101Thr)
c.3209A>C (p.Lys1070Thr)
c.3218A>C (p.Lys1073Thr)
c.3362A>C (p.Lys1121Thr)
c.*3071A>C (n.*3071A>C)
c.3344A>C (p.Lys1115Thr)
c.3383A>C (p.Lys1128Thr)
c.3398A>C (p.Lys1133Thr)
c.3404A>C (p.Lys1135Thr)
c.3326A>C (p.Lys1109Thr)
c.3296A>C (p.Lys1099Thr)
c.3596A>C (p.Lys1199Thr)
c.3605A>C (p.Lys1202Thr)
c.2951A>C (p.Lys984Thr)
c.3395A>C (p.Lys1132Thr)
9g.135786480A>GCA375492311KCNT1c.3461A>G (p.Lys1154Arg)
c.3302A>G (p.Lys1101Arg)
c.3209A>G (p.Lys1070Arg)
c.3218A>G (p.Lys1073Arg)
c.3362A>G (p.Lys1121Arg)
c.*3071A>G (n.*3071A>G)
c.3344A>G (p.Lys1115Arg)
c.3383A>G (p.Lys1128Arg)
c.3398A>G (p.Lys1133Arg)
c.3404A>G (p.Lys1135Arg)
c.3326A>G (p.Lys1109Arg)
c.3296A>G (p.Lys1099Arg)
c.3596A>G (p.Lys1199Arg)
c.3605A>G (p.Lys1202Arg)
c.2951A>G (p.Lys984Arg)
c.3395A>G (p.Lys1132Arg)
 ClinVar dbSNP
9g.135786480A>TCA5327825KCNT1c.3461A>T (p.Lys1154Met)
c.3302A>T (p.Lys1101Met)
c.3209A>T (p.Lys1070Met)
c.3218A>T (p.Lys1073Met)
c.3362A>T (p.Lys1121Met)
c.*3071A>T (n.*3071A>T)
c.3344A>T (p.Lys1115Met)
c.3383A>T (p.Lys1128Met)
c.3398A>T (p.Lys1133Met)
c.3404A>T (p.Lys1135Met)
c.3326A>T (p.Lys1109Met)
c.3296A>T (p.Lys1099Met)
c.3596A>T (p.Lys1199Met)
c.3605A>T (p.Lys1202Met)
c.2951A>T (p.Lys984Met)
c.3395A>T (p.Lys1132Met)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135786481G>ACA467699252KCNT1c.3462G>A (p.Lys1154=)
c.3303G>A (p.Lys1101=)
c.3210G>A (p.Lys1070=)
c.3219G>A (p.Lys1073=)
c.3363G>A (p.Lys1121=)
c.*3072G>A (n.*3072G>A)
c.3345G>A (p.Lys1115=)
c.3384G>A (p.Lys1128=)
c.3399G>A (p.Lys1133=)
c.3405G>A (p.Lys1135=)
c.3327G>A (p.Lys1109=)
c.3297G>A (p.Lys1099=)
c.3597G>A (p.Lys1199=)
c.3606G>A (p.Lys1202=)
c.2952G>A (p.Lys984=)
c.3396G>A (p.Lys1132=)
9g.135786481G>CCA375492315KCNT1c.3462G>C (p.Lys1154Asn)
c.3303G>C (p.Lys1101Asn)
c.3210G>C (p.Lys1070Asn)
c.3219G>C (p.Lys1073Asn)
c.3363G>C (p.Lys1121Asn)
c.*3072G>C (n.*3072G>C)
c.3345G>C (p.Lys1115Asn)
c.3384G>C (p.Lys1128Asn)
c.3399G>C (p.Lys1133Asn)
c.3405G>C (p.Lys1135Asn)
c.3327G>C (p.Lys1109Asn)
c.3297G>C (p.Lys1099Asn)
c.3597G>C (p.Lys1199Asn)
c.3606G>C (p.Lys1202Asn)
c.2952G>C (p.Lys984Asn)
c.3396G>C (p.Lys1132Asn)
9g.135786481G>TCA375492317KCNT1c.3462G>T (p.Lys1154Asn)
c.3303G>T (p.Lys1101Asn)
c.3210G>T (p.Lys1070Asn)
c.3219G>T (p.Lys1073Asn)
c.3363G>T (p.Lys1121Asn)
c.*3072G>T (n.*3072G>T)
c.3345G>T (p.Lys1115Asn)
c.3384G>T (p.Lys1128Asn)
c.3399G>T (p.Lys1133Asn)
c.3405G>T (p.Lys1135Asn)
c.3327G>T (p.Lys1109Asn)
c.3297G>T (p.Lys1099Asn)
c.3597G>T (p.Lys1199Asn)
c.3606G>T (p.Lys1202Asn)
c.2952G>T (p.Lys984Asn)
c.3396G>T (p.Lys1132Asn)
 gnomAD v4
9g.135786482A>CCA375492318KCNT1c.3463A>C (p.Asn1155His)
c.3304A>C (p.Asn1102His)
c.3211A>C (p.Asn1071His)
c.3220A>C (p.Asn1074His)
c.3364A>C (p.Asn1122His)
c.*3073A>C (n.*3073A>C)
c.3346A>C (p.Asn1116His)
c.3385A>C (p.Asn1129His)
c.3400A>C (p.Asn1134His)
c.3406A>C (p.Asn1136His)
c.3328A>C (p.Asn1110His)
c.3298A>C (p.Asn1100His)
c.3598A>C (p.Asn1200His)
c.3607A>C (p.Asn1203His)
c.2953A>C (p.Asn985His)
c.3397A>C (p.Asn1133His)
9g.135786482A>GCA375492323KCNT1c.3463A>G (p.Asn1155Asp)
c.3304A>G (p.Asn1102Asp)
c.3211A>G (p.Asn1071Asp)
c.3220A>G (p.Asn1074Asp)
c.3364A>G (p.Asn1122Asp)
c.*3073A>G (n.*3073A>G)
c.3346A>G (p.Asn1116Asp)
c.3385A>G (p.Asn1129Asp)
c.3400A>G (p.Asn1134Asp)
c.3406A>G (p.Asn1136Asp)
c.3328A>G (p.Asn1110Asp)
c.3298A>G (p.Asn1100Asp)
c.3598A>G (p.Asn1200Asp)
c.3607A>G (p.Asn1203Asp)
c.2953A>G (p.Asn985Asp)
c.3397A>G (p.Asn1133Asp)
 gnomAD v4
9g.135786482A>TCA375492320KCNT1c.3463A>T (p.Asn1155Tyr)
c.3304A>T (p.Asn1102Tyr)
c.3211A>T (p.Asn1071Tyr)
c.3220A>T (p.Asn1074Tyr)
c.3364A>T (p.Asn1122Tyr)
c.*3073A>T (n.*3073A>T)
c.3346A>T (p.Asn1116Tyr)
c.3385A>T (p.Asn1129Tyr)
c.3400A>T (p.Asn1134Tyr)
c.3406A>T (p.Asn1136Tyr)
c.3328A>T (p.Asn1110Tyr)
c.3298A>T (p.Asn1100Tyr)
c.3598A>T (p.Asn1200Tyr)
c.3607A>T (p.Asn1203Tyr)
c.2953A>T (p.Asn985Tyr)
c.3397A>T (p.Asn1133Tyr)
9g.135786483A=CA1883888477KCNT1c.3464A= (p.Asn1155=)
c.3305A= (p.Asn1102=)
c.3212A= (p.Asn1071=)
c.3221A= (p.Asn1074=)
c.3365A= (p.Asn1122=)
c.*3074A= (n.*3074A=)
c.3347A= (p.Asn1116=)
c.3386A= (p.Asn1129=)
c.3401A= (p.Asn1134=)
c.3407A= (p.Asn1136=)
c.3329A= (p.Asn1110=)
c.3299A= (p.Asn1100=)
c.3599A= (p.Asn1200=)
c.3608A= (p.Asn1203=)
c.2954A= (p.Asn985=)
c.3398A= (p.Asn1133=)
9g.135786483A>CCA375492326KCNT1c.3464A>C (p.Asn1155Thr)
c.3305A>C (p.Asn1102Thr)
c.3212A>C (p.Asn1071Thr)
c.3221A>C (p.Asn1074Thr)
c.3365A>C (p.Asn1122Thr)
c.*3074A>C (n.*3074A>C)
c.3347A>C (p.Asn1116Thr)
c.3386A>C (p.Asn1129Thr)
c.3401A>C (p.Asn1134Thr)
c.3407A>C (p.Asn1136Thr)
c.3329A>C (p.Asn1110Thr)
c.3299A>C (p.Asn1100Thr)
c.3599A>C (p.Asn1200Thr)
c.3608A>C (p.Asn1203Thr)
c.2954A>C (p.Asn985Thr)
c.3398A>C (p.Asn1133Thr)
 ClinVar dbSNP COSMIC COSMIC
9g.135786483A>GCA13138008KCNT1c.3464A>G (p.Asn1155Ser)
c.3305A>G (p.Asn1102Ser)
c.3212A>G (p.Asn1071Ser)
c.3221A>G (p.Asn1074Ser)
c.3365A>G (p.Asn1122Ser)
c.*3074A>G (n.*3074A>G)
c.3347A>G (p.Asn1116Ser)
c.3386A>G (p.Asn1129Ser)
c.3401A>G (p.Asn1134Ser)
c.3407A>G (p.Asn1136Ser)
c.3329A>G (p.Asn1110Ser)
c.3299A>G (p.Asn1100Ser)
c.3599A>G (p.Asn1200Ser)
c.3608A>G (p.Asn1203Ser)
c.2954A>G (p.Asn985Ser)
c.3398A>G (p.Asn1133Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135786483A>TCA375492328KCNT1c.3464A>T (p.Asn1155Ile)
c.3305A>T (p.Asn1102Ile)
c.3212A>T (p.Asn1071Ile)
c.3221A>T (p.Asn1074Ile)
c.3365A>T (p.Asn1122Ile)
c.*3074A>T (n.*3074A>T)
c.3347A>T (p.Asn1116Ile)
c.3386A>T (p.Asn1129Ile)
c.3401A>T (p.Asn1134Ile)
c.3407A>T (p.Asn1136Ile)
c.3329A>T (p.Asn1110Ile)
c.3299A>T (p.Asn1100Ile)
c.3599A>T (p.Asn1200Ile)
c.3608A>T (p.Asn1203Ile)
c.2954A>T (p.Asn985Ile)
c.3398A>T (p.Asn1133Ile)
9g.135786484C>ACA375492332KCNT1c.3465C>A (p.Asn1155Lys)
c.3306C>A (p.Asn1102Lys)
c.3213C>A (p.Asn1071Lys)
c.3222C>A (p.Asn1074Lys)
c.3366C>A (p.Asn1122Lys)
c.*3075C>A (n.*3075C>A)
c.3348C>A (p.Asn1116Lys)
c.3387C>A (p.Asn1129Lys)
c.3402C>A (p.Asn1134Lys)
c.3408C>A (p.Asn1136Lys)
c.3330C>A (p.Asn1110Lys)
c.3300C>A (p.Asn1100Lys)
c.3600C>A (p.Asn1200Lys)
c.3609C>A (p.Asn1203Lys)
c.2955C>A (p.Asn985Lys)
c.3399C>A (p.Asn1133Lys)
9g.135786484C=CA1883888483KCNT1c.3465C= (p.Asn1155=)
c.3306C= (p.Asn1102=)
c.3213C= (p.Asn1071=)
c.3222C= (p.Asn1074=)
c.3366C= (p.Asn1122=)
c.*3075C= (n.*3075C=)
c.3348C= (p.Asn1116=)
c.3387C= (p.Asn1129=)
c.3402C= (p.Asn1134=)
c.3408C= (p.Asn1136=)
c.3330C= (p.Asn1110=)
c.3300C= (p.Asn1100=)
c.3600C= (p.Asn1200=)
c.3609C= (p.Asn1203=)
c.2955C= (p.Asn985=)
c.3399C= (p.Asn1133=)
9g.135786484C>GCA375492334KCNT1c.3465C>G (p.Asn1155Lys)
c.3306C>G (p.Asn1102Lys)
c.3213C>G (p.Asn1071Lys)
c.3222C>G (p.Asn1074Lys)
c.3366C>G (p.Asn1122Lys)
c.*3075C>G (n.*3075C>G)
c.3348C>G (p.Asn1116Lys)
c.3387C>G (p.Asn1129Lys)
c.3402C>G (p.Asn1134Lys)
c.3408C>G (p.Asn1136Lys)
c.3330C>G (p.Asn1110Lys)
c.3300C>G (p.Asn1100Lys)
c.3600C>G (p.Asn1200Lys)
c.3609C>G (p.Asn1203Lys)
c.2955C>G (p.Asn985Lys)
c.3399C>G (p.Asn1133Lys)
9g.135786484C>TCA467699253KCNT1c.3465C>T (p.Asn1155=)
c.3306C>T (p.Asn1102=)
c.3213C>T (p.Asn1071=)
c.3222C>T (p.Asn1074=)
c.3366C>T (p.Asn1122=)
c.*3075C>T (n.*3075C>T)
c.3348C>T (p.Asn1116=)
c.3387C>T (p.Asn1129=)
c.3402C>T (p.Asn1134=)
c.3408C>T (p.Asn1136=)
c.3330C>T (p.Asn1110=)
c.3300C>T (p.Asn1100=)
c.3600C>T (p.Asn1200=)
c.3609C>T (p.Asn1203=)
c.2955C>T (p.Asn985=)
c.3399C>T (p.Asn1133=)
 dbSNP gnomAD v2 gnomAD v4
9g.135786485C>ACA375492337KCNT1c.3466C>A (p.Arg1156Ser)
c.3307C>A (p.Arg1103Ser)
c.3214C>A (p.Arg1072Ser)
c.3223C>A (p.Arg1075Ser)
c.3367C>A (p.Arg1123Ser)
c.*3076C>A (n.*3076C>A)
c.3349C>A (p.Arg1117Ser)
c.3388C>A (p.Arg1130Ser)
c.3403C>A (p.Arg1135Ser)
c.3409C>A (p.Arg1137Ser)
c.3331C>A (p.Arg1111Ser)
c.3301C>A (p.Arg1101Ser)
c.3601C>A (p.Arg1201Ser)
c.3610C>A (p.Arg1204Ser)
c.2956C>A (p.Arg986Ser)
c.3400C>A (p.Arg1134Ser)
 gnomAD v4
9g.135786485C=CA1883888485KCNT1c.3466C= (p.Arg1156=)
c.3307C= (p.Arg1103=)
c.3214C= (p.Arg1072=)
c.3223C= (p.Arg1075=)
c.3367C= (p.Arg1123=)
c.*3076C= (n.*3076C=)
c.3349C= (p.Arg1117=)
c.3388C= (p.Arg1130=)
c.3403C= (p.Arg1135=)
c.3409C= (p.Arg1137=)
c.3331C= (p.Arg1111=)
c.3301C= (p.Arg1101=)
c.3601C= (p.Arg1201=)
c.3610C= (p.Arg1204=)
c.2956C= (p.Arg986=)
c.3400C= (p.Arg1134=)
9g.135786485C>GCA375492342KCNT1c.3466C>G (p.Arg1156Gly)
c.3307C>G (p.Arg1103Gly)
c.3214C>G (p.Arg1072Gly)
c.3223C>G (p.Arg1075Gly)
c.3367C>G (p.Arg1123Gly)
c.*3076C>G (n.*3076C>G)
c.3349C>G (p.Arg1117Gly)
c.3388C>G (p.Arg1130Gly)
c.3403C>G (p.Arg1135Gly)
c.3409C>G (p.Arg1137Gly)
c.3331C>G (p.Arg1111Gly)
c.3301C>G (p.Arg1101Gly)
c.3601C>G (p.Arg1201Gly)
c.3610C>G (p.Arg1204Gly)
c.2956C>G (p.Arg986Gly)
c.3400C>G (p.Arg1134Gly)
 ClinVar
9g.135786485C>TCA375492340KCNT1c.3466C>T (p.Arg1156Cys)
c.3307C>T (p.Arg1103Cys)
c.3214C>T (p.Arg1072Cys)
c.3223C>T (p.Arg1075Cys)
c.3367C>T (p.Arg1123Cys)
c.*3076C>T (n.*3076C>T)
c.3349C>T (p.Arg1117Cys)
c.3388C>T (p.Arg1130Cys)
c.3403C>T (p.Arg1135Cys)
c.3409C>T (p.Arg1137Cys)
c.3331C>T (p.Arg1111Cys)
c.3301C>T (p.Arg1101Cys)
c.3601C>T (p.Arg1201Cys)
c.3610C>T (p.Arg1204Cys)
c.2956C>T (p.Arg986Cys)
c.3400C>T (p.Arg1134Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135786486G>ACA201424460KCNT1c.3467G>A (p.Arg1156His)
c.3308G>A (p.Arg1103His)
c.3215G>A (p.Arg1072His)
c.3224G>A (p.Arg1075His)
c.3368G>A (p.Arg1123His)
c.*3077G>A (n.*3077G>A)
c.3350G>A (p.Arg1117His)
c.3389G>A (p.Arg1130His)
c.3404G>A (p.Arg1135His)
c.3410G>A (p.Arg1137His)
c.3332G>A (p.Arg1111His)
c.3302G>A (p.Arg1101His)
c.3602G>A (p.Arg1201His)
c.3611G>A (p.Arg1204His)
c.2957G>A (p.Arg986His)
c.3401G>A (p.Arg1134His)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.135786486G>CCA375492347KCNT1c.3467G>C (p.Arg1156Pro)
c.3308G>C (p.Arg1103Pro)
c.3215G>C (p.Arg1072Pro)
c.3224G>C (p.Arg1075Pro)
c.3368G>C (p.Arg1123Pro)
c.*3077G>C (n.*3077G>C)
c.3350G>C (p.Arg1117Pro)
c.3389G>C (p.Arg1130Pro)
c.3404G>C (p.Arg1135Pro)
c.3410G>C (p.Arg1137Pro)
c.3332G>C (p.Arg1111Pro)
c.3302G>C (p.Arg1101Pro)
c.3602G>C (p.Arg1201Pro)
c.3611G>C (p.Arg1204Pro)
c.2957G>C (p.Arg986Pro)
c.3401G>C (p.Arg1134Pro)
9g.135786486G=CA1883888496KCNT1c.3467G= (p.Arg1156=)
c.3308G= (p.Arg1103=)
c.3215G= (p.Arg1072=)
c.3224G= (p.Arg1075=)
c.3368G= (p.Arg1123=)
c.*3077G= (n.*3077G=)
c.3350G= (p.Arg1117=)
c.3389G= (p.Arg1130=)
c.3404G= (p.Arg1135=)
c.3410G= (p.Arg1137=)
c.3332G= (p.Arg1111=)
c.3302G= (p.Arg1101=)
c.3602G= (p.Arg1201=)
c.3611G= (p.Arg1204=)
c.2957G= (p.Arg986=)
c.3401G= (p.Arg1134=)
9g.135786486G>TCA375492349KCNT1c.3467G>T (p.Arg1156Leu)
c.3308G>T (p.Arg1103Leu)
c.3215G>T (p.Arg1072Leu)
c.3224G>T (p.Arg1075Leu)
c.3368G>T (p.Arg1123Leu)
c.*3077G>T (n.*3077G>T)
c.3350G>T (p.Arg1117Leu)
c.3389G>T (p.Arg1130Leu)
c.3404G>T (p.Arg1135Leu)
c.3410G>T (p.Arg1137Leu)
c.3332G>T (p.Arg1111Leu)
c.3302G>T (p.Arg1101Leu)
c.3602G>T (p.Arg1201Leu)
c.3611G>T (p.Arg1204Leu)
c.2957G>T (p.Arg986Leu)
c.3401G>T (p.Arg1134Leu)
9g.135786487C>ACA467699254KCNT1c.3468C>A (p.Arg1156=)
c.3309C>A (p.Arg1103=)
c.3216C>A (p.Arg1072=)
c.3225C>A (p.Arg1075=)
c.3369C>A (p.Arg1123=)
c.*3078C>A (n.*3078C>A)
c.3351C>A (p.Arg1117=)
c.3390C>A (p.Arg1130=)
c.3405C>A (p.Arg1135=)
c.3411C>A (p.Arg1137=)
c.3333C>A (p.Arg1111=)
c.3303C>A (p.Arg1101=)
c.3603C>A (p.Arg1201=)
c.3612C>A (p.Arg1204=)
c.2958C>A (p.Arg986=)
c.3402C>A (p.Arg1134=)
9g.135786487C=CA1883888500KCNT1c.3468C= (p.Arg1156=)
c.3309C= (p.Arg1103=)
c.3216C= (p.Arg1072=)
c.3225C= (p.Arg1075=)
c.3369C= (p.Arg1123=)
c.*3078C= (n.*3078C=)
c.3351C= (p.Arg1117=)
c.3390C= (p.Arg1130=)
c.3405C= (p.Arg1135=)
c.3411C= (p.Arg1137=)
c.3333C= (p.Arg1111=)
c.3303C= (p.Arg1101=)
c.3603C= (p.Arg1201=)
c.3612C= (p.Arg1204=)
c.2958C= (p.Arg986=)
c.3402C= (p.Arg1134=)
9g.135786487C>GCA467699255KCNT1c.3468C>G (p.Arg1156=)
c.3309C>G (p.Arg1103=)
c.3216C>G (p.Arg1072=)
c.3225C>G (p.Arg1075=)
c.3369C>G (p.Arg1123=)
c.*3078C>G (n.*3078C>G)
c.3351C>G (p.Arg1117=)
c.3390C>G (p.Arg1130=)
c.3405C>G (p.Arg1135=)
c.3411C>G (p.Arg1137=)
c.3333C>G (p.Arg1111=)
c.3303C>G (p.Arg1101=)
c.3603C>G (p.Arg1201=)
c.3612C>G (p.Arg1204=)
c.2958C>G (p.Arg986=)
c.3402C>G (p.Arg1134=)
9g.135786487C>TCA467699256KCNT1c.3468C>T (p.Arg1156=)
c.3309C>T (p.Arg1103=)
c.3216C>T (p.Arg1072=)
c.3225C>T (p.Arg1075=)
c.3369C>T (p.Arg1123=)
c.*3078C>T (n.*3078C>T)
c.3351C>T (p.Arg1117=)
c.3390C>T (p.Arg1130=)
c.3405C>T (p.Arg1135=)
c.3411C>T (p.Arg1137=)
c.3333C>T (p.Arg1111=)
c.3303C>T (p.Arg1101=)
c.3603C>T (p.Arg1201=)
c.3612C>T (p.Arg1204=)
c.2958C>T (p.Arg986=)
c.3402C>T (p.Arg1134=)
 dbSNP gnomAD v3 gnomAD v4
9g.135786488A>CCA375492353KCNT1c.3469A>C (p.Met1157Leu)
c.3310A>C (p.Met1104Leu)
c.3217A>C (p.Met1073Leu)
c.3226A>C (p.Met1076Leu)
c.3370A>C (p.Met1124Leu)
c.*3079A>C (n.*3079A>C)
c.3352A>C (p.Met1118Leu)
c.3391A>C (p.Met1131Leu)
c.3406A>C (p.Met1136Leu)
c.3412A>C (p.Met1138Leu)
c.3334A>C (p.Met1112Leu)
c.3304A>C (p.Met1102Leu)
c.3604A>C (p.Met1202Leu)
c.3613A>C (p.Met1205Leu)
c.2959A>C (p.Met987Leu)
c.3403A>C (p.Met1135Leu)
9g.135786488A>GCA375492354KCNT1c.3469A>G (p.Met1157Val)
c.3310A>G (p.Met1104Val)
c.3217A>G (p.Met1073Val)
c.3226A>G (p.Met1076Val)
c.3370A>G (p.Met1124Val)
c.*3079A>G (n.*3079A>G)
c.3352A>G (p.Met1118Val)
c.3391A>G (p.Met1131Val)
c.3406A>G (p.Met1136Val)
c.3412A>G (p.Met1138Val)
c.3334A>G (p.Met1112Val)
c.3304A>G (p.Met1102Val)
c.3604A>G (p.Met1202Val)
c.3613A>G (p.Met1205Val)
c.2959A>G (p.Met987Val)
c.3403A>G (p.Met1135Val)
9g.135786488A>TCA375492357KCNT1c.3469A>T (p.Met1157Leu)
c.3310A>T (p.Met1104Leu)
c.3217A>T (p.Met1073Leu)
c.3226A>T (p.Met1076Leu)
c.3370A>T (p.Met1124Leu)
c.*3079A>T (n.*3079A>T)
c.3352A>T (p.Met1118Leu)
c.3391A>T (p.Met1131Leu)
c.3406A>T (p.Met1136Leu)
c.3412A>T (p.Met1138Leu)
c.3334A>T (p.Met1112Leu)
c.3304A>T (p.Met1102Leu)
c.3604A>T (p.Met1202Leu)
c.3613A>T (p.Met1205Leu)
c.2959A>T (p.Met987Leu)
c.3403A>T (p.Met1135Leu)
9g.135786489T>ACA375492359KCNT1c.3470T>A (p.Met1157Lys)
c.3311T>A (p.Met1104Lys)
c.3218T>A (p.Met1073Lys)
c.3227T>A (p.Met1076Lys)
c.3371T>A (p.Met1124Lys)
c.*3080T>A (n.*3080T>A)
c.3353T>A (p.Met1118Lys)
c.3392T>A (p.Met1131Lys)
c.3407T>A (p.Met1136Lys)
c.3413T>A (p.Met1138Lys)
c.3335T>A (p.Met1112Lys)
c.3305T>A (p.Met1102Lys)
c.3605T>A (p.Met1202Lys)
c.3614T>A (p.Met1205Lys)
c.2960T>A (p.Met987Lys)
c.3404T>A (p.Met1135Lys)
9g.135786489T>CCA375492362KCNT1c.3470T>C (p.Met1157Thr)
c.3311T>C (p.Met1104Thr)
c.3218T>C (p.Met1073Thr)
c.3227T>C (p.Met1076Thr)
c.3371T>C (p.Met1124Thr)
c.*3080T>C (n.*3080T>C)
c.3353T>C (p.Met1118Thr)
c.3392T>C (p.Met1131Thr)
c.3407T>C (p.Met1136Thr)
c.3413T>C (p.Met1138Thr)
c.3335T>C (p.Met1112Thr)
c.3305T>C (p.Met1102Thr)
c.3605T>C (p.Met1202Thr)
c.3614T>C (p.Met1205Thr)
c.2960T>C (p.Met987Thr)
c.3404T>C (p.Met1135Thr)
9g.135786489T>GCA375492364KCNT1c.3470T>G (p.Met1157Arg)
c.3311T>G (p.Met1104Arg)
c.3218T>G (p.Met1073Arg)
c.3227T>G (p.Met1076Arg)
c.3371T>G (p.Met1124Arg)
c.*3080T>G (n.*3080T>G)
c.3353T>G (p.Met1118Arg)
c.3392T>G (p.Met1131Arg)
c.3407T>G (p.Met1136Arg)
c.3413T>G (p.Met1138Arg)
c.3335T>G (p.Met1112Arg)
c.3305T>G (p.Met1102Arg)
c.3605T>G (p.Met1202Arg)
c.3614T>G (p.Met1205Arg)
c.2960T>G (p.Met987Arg)
c.3404T>G (p.Met1135Arg)
 gnomAD v4
9g.135786490G>ACA375492367KCNT1c.3471G>A (p.Met1157Ile)
c.3312G>A (p.Met1104Ile)
c.3219G>A (p.Met1073Ile)
c.3228G>A (p.Met1076Ile)
c.3372G>A (p.Met1124Ile)
c.*3081G>A (n.*3081G>A)
c.3354G>A (p.Met1118Ile)
c.3393G>A (p.Met1131Ile)
c.3408G>A (p.Met1136Ile)
c.3414G>A (p.Met1138Ile)
c.3336G>A (p.Met1112Ile)
c.3306G>A (p.Met1102Ile)
c.3606G>A (p.Met1202Ile)
c.3615G>A (p.Met1205Ile)
c.2961G>A (p.Met987Ile)
c.3405G>A (p.Met1135Ile)
 ClinVar dbSNP gnomAD v4
9g.135786490G>CCA375492369KCNT1c.3471G>C (p.Met1157Ile)
c.3312G>C (p.Met1104Ile)
c.3219G>C (p.Met1073Ile)
c.3228G>C (p.Met1076Ile)
c.3372G>C (p.Met1124Ile)
c.*3081G>C (n.*3081G>C)
c.3354G>C (p.Met1118Ile)
c.3393G>C (p.Met1131Ile)
c.3408G>C (p.Met1136Ile)
c.3414G>C (p.Met1138Ile)
c.3336G>C (p.Met1112Ile)
c.3306G>C (p.Met1102Ile)
c.3606G>C (p.Met1202Ile)
c.3615G>C (p.Met1205Ile)
c.2961G>C (p.Met987Ile)
c.3405G>C (p.Met1135Ile)
9g.135786490G=CA1883888506KCNT1c.3471G= (p.Met1157=)
c.3312G= (p.Met1104=)
c.3219G= (p.Met1073=)
c.3228G= (p.Met1076=)
c.3372G= (p.Met1124=)
c.*3081G= (n.*3081G=)
c.3354G= (p.Met1118=)
c.3393G= (p.Met1131=)
c.3408G= (p.Met1136=)
c.3414G= (p.Met1138=)
c.3336G= (p.Met1112=)
c.3306G= (p.Met1102=)
c.3606G= (p.Met1202=)
c.3615G= (p.Met1205=)
c.2961G= (p.Met987=)
c.3405G= (p.Met1135=)
9g.135786490G>TCA375492371KCNT1c.3471G>T (p.Met1157Ile)
c.3312G>T (p.Met1104Ile)
c.3219G>T (p.Met1073Ile)
c.3228G>T (p.Met1076Ile)
c.3372G>T (p.Met1124Ile)
c.*3081G>T (n.*3081G>T)
c.3354G>T (p.Met1118Ile)
c.3393G>T (p.Met1131Ile)
c.3408G>T (p.Met1136Ile)
c.3414G>T (p.Met1138Ile)
c.3336G>T (p.Met1112Ile)
c.3306G>T (p.Met1102Ile)
c.3606G>T (p.Met1202Ile)
c.3615G>T (p.Met1205Ile)
c.2961G>T (p.Met987Ile)
c.3405G>T (p.Met1135Ile)
9g.135786491A>CCA375492379KCNT1c.3472A>C (p.Lys1158Gln)
c.3313A>C (p.Lys1105Gln)
c.3220A>C (p.Lys1074Gln)
c.3229A>C (p.Lys1077Gln)
c.3373A>C (p.Lys1125Gln)
c.*3082A>C (n.*3082A>C)
c.3355A>C (p.Lys1119Gln)
c.3394A>C (p.Lys1132Gln)
c.3409A>C (p.Lys1137Gln)
c.3415A>C (p.Lys1139Gln)
c.3337A>C (p.Lys1113Gln)
c.3307A>C (p.Lys1103Gln)
c.3607A>C (p.Lys1203Gln)
c.3616A>C (p.Lys1206Gln)
c.2962A>C (p.Lys988Gln)
c.3406A>C (p.Lys1136Gln)
9g.135786491A>GCA375492377KCNT1c.3472A>G (p.Lys1158Glu)
c.3313A>G (p.Lys1105Glu)
c.3220A>G (p.Lys1074Glu)
c.3229A>G (p.Lys1077Glu)
c.3373A>G (p.Lys1125Glu)
c.*3082A>G (n.*3082A>G)
c.3355A>G (p.Lys1119Glu)
c.3394A>G (p.Lys1132Glu)
c.3409A>G (p.Lys1137Glu)
c.3415A>G (p.Lys1139Glu)
c.3337A>G (p.Lys1113Glu)
c.3307A>G (p.Lys1103Glu)
c.3607A>G (p.Lys1203Glu)
c.3616A>G (p.Lys1206Glu)
c.2962A>G (p.Lys988Glu)
c.3406A>G (p.Lys1136Glu)
 gnomAD v4
9g.135786491A>TCA375492374KCNT1c.3472A>T (p.Lys1158Ter)
c.3313A>T (p.Lys1105Ter)
c.3220A>T (p.Lys1074Ter)
c.3229A>T (p.Lys1077Ter)
c.3373A>T (p.Lys1125Ter)
c.*3082A>T (n.*3082A>T)
c.3355A>T (p.Lys1119Ter)
c.3394A>T (p.Lys1132Ter)
c.3409A>T (p.Lys1137Ter)
c.3415A>T (p.Lys1139Ter)
c.3337A>T (p.Lys1113Ter)
c.3307A>T (p.Lys1103Ter)
c.3607A>T (p.Lys1203Ter)
c.3616A>T (p.Lys1206Ter)
c.2962A>T (p.Lys988Ter)
c.3406A>T (p.Lys1136Ter)
9g.135786492A>CCA375492382KCNT1c.3473A>C (p.Lys1158Thr)
c.3314A>C (p.Lys1105Thr)
c.3221A>C (p.Lys1074Thr)
c.3230A>C (p.Lys1077Thr)
c.3374A>C (p.Lys1125Thr)
c.*3083A>C (n.*3083A>C)
c.3356A>C (p.Lys1119Thr)
c.3395A>C (p.Lys1132Thr)
c.3410A>C (p.Lys1137Thr)
c.3416A>C (p.Lys1139Thr)
c.3338A>C (p.Lys1113Thr)
c.3308A>C (p.Lys1103Thr)
c.3608A>C (p.Lys1203Thr)
c.3617A>C (p.Lys1206Thr)
c.2963A>C (p.Lys988Thr)
c.3407A>C (p.Lys1136Thr)
9g.135786492A>GCA375492384KCNT1c.3473A>G (p.Lys1158Arg)
c.3314A>G (p.Lys1105Arg)
c.3221A>G (p.Lys1074Arg)
c.3230A>G (p.Lys1077Arg)
c.3374A>G (p.Lys1125Arg)
c.*3083A>G (n.*3083A>G)
c.3356A>G (p.Lys1119Arg)
c.3395A>G (p.Lys1132Arg)
c.3410A>G (p.Lys1137Arg)
c.3416A>G (p.Lys1139Arg)
c.3338A>G (p.Lys1113Arg)
c.3308A>G (p.Lys1103Arg)
c.3608A>G (p.Lys1203Arg)
c.3617A>G (p.Lys1206Arg)
c.2963A>G (p.Lys988Arg)
c.3407A>G (p.Lys1136Arg)
 gnomAD v4
9g.135786492A>TCA375492386KCNT1c.3473A>T (p.Lys1158Met)
c.3314A>T (p.Lys1105Met)
c.3221A>T (p.Lys1074Met)
c.3230A>T (p.Lys1077Met)
c.3374A>T (p.Lys1125Met)
c.*3083A>T (n.*3083A>T)
c.3356A>T (p.Lys1119Met)
c.3395A>T (p.Lys1132Met)
c.3410A>T (p.Lys1137Met)
c.3416A>T (p.Lys1139Met)
c.3338A>T (p.Lys1113Met)
c.3308A>T (p.Lys1103Met)
c.3608A>T (p.Lys1203Met)
c.3617A>T (p.Lys1206Met)
c.2963A>T (p.Lys988Met)
c.3407A>T (p.Lys1136Met)
 gnomAD v4
9g.135786493G>ACA467699257KCNT1c.3474G>A (p.Lys1158=)
c.3315G>A (p.Lys1105=)
c.3222G>A (p.Lys1074=)
c.3231G>A (p.Lys1077=)
c.3375G>A (p.Lys1125=)
c.*3084G>A (n.*3084G>A)
c.3357G>A (p.Lys1119=)
c.3396G>A (p.Lys1132=)
c.3411G>A (p.Lys1137=)
c.3417G>A (p.Lys1139=)
c.3339G>A (p.Lys1113=)
c.3309G>A (p.Lys1103=)
c.3609G>A (p.Lys1203=)
c.3618G>A (p.Lys1206=)
c.2964G>A (p.Lys988=)
c.3408G>A (p.Lys1136=)
 gnomAD v4
9g.135786493G>CCA375492387KCNT1c.3474G>C (p.Lys1158Asn)
c.3315G>C (p.Lys1105Asn)
c.3222G>C (p.Lys1074Asn)
c.3231G>C (p.Lys1077Asn)
c.3375G>C (p.Lys1125Asn)
c.*3084G>C (n.*3084G>C)
c.3357G>C (p.Lys1119Asn)
c.3396G>C (p.Lys1132Asn)
c.3411G>C (p.Lys1137Asn)
c.3417G>C (p.Lys1139Asn)
c.3339G>C (p.Lys1113Asn)
c.3309G>C (p.Lys1103Asn)
c.3609G>C (p.Lys1203Asn)
c.3618G>C (p.Lys1206Asn)
c.2964G>C (p.Lys988Asn)
c.3408G>C (p.Lys1136Asn)
9g.135786493G>TCA375492388KCNT1c.3474G>T (p.Lys1158Asn)
c.3315G>T (p.Lys1105Asn)
c.3222G>T (p.Lys1074Asn)
c.3231G>T (p.Lys1077Asn)
c.3375G>T (p.Lys1125Asn)
c.*3084G>T (n.*3084G>T)
c.3357G>T (p.Lys1119Asn)
c.3396G>T (p.Lys1132Asn)
c.3411G>T (p.Lys1137Asn)
c.3417G>T (p.Lys1139Asn)
c.3339G>T (p.Lys1113Asn)
c.3309G>T (p.Lys1103Asn)
c.3609G>T (p.Lys1203Asn)
c.3618G>T (p.Lys1206Asn)
c.2964G>T (p.Lys988Asn)
c.3408G>T (p.Lys1136Asn)
 gnomAD v4
9g.135786494C>ACA375492391KCNT1c.3475C>A (p.His1159Asn)
c.3316C>A (p.His1106Asn)
c.3223C>A (p.His1075Asn)
c.3232C>A (p.His1078Asn)
c.3376C>A (p.His1126Asn)
c.*3085C>A (n.*3085C>A)
c.3358C>A (p.His1120Asn)
c.3397C>A (p.His1133Asn)
c.3412C>A (p.His1138Asn)
c.3418C>A (p.His1140Asn)
c.3340C>A (p.His1114Asn)
c.3310C>A (p.His1104Asn)
c.3610C>A (p.His1204Asn)
c.3619C>A (p.His1207Asn)
c.2965C>A (p.His989Asn)
c.3409C>A (p.His1137Asn)
 gnomAD v4
9g.135786494C=CA1883888511KCNT1c.3475C= (p.His1159=)
c.3316C= (p.His1106=)
c.3223C= (p.His1075=)
c.3232C= (p.His1078=)
c.3376C= (p.His1126=)
c.*3085C= (n.*3085C=)
c.3358C= (p.His1120=)
c.3397C= (p.His1133=)
c.3412C= (p.His1138=)
c.3418C= (p.His1140=)
c.3340C= (p.His1114=)
c.3310C= (p.His1104=)
c.3610C= (p.His1204=)
c.3619C= (p.His1207=)
c.2965C= (p.His989=)
c.3409C= (p.His1137=)
9g.135786494C>GCA375492394KCNT1c.3475C>G (p.His1159Asp)
c.3316C>G (p.His1106Asp)
c.3223C>G (p.His1075Asp)
c.3232C>G (p.His1078Asp)
c.3376C>G (p.His1126Asp)
c.*3085C>G (n.*3085C>G)
c.3358C>G (p.His1120Asp)
c.3397C>G (p.His1133Asp)
c.3412C>G (p.His1138Asp)
c.3418C>G (p.His1140Asp)
c.3340C>G (p.His1114Asp)
c.3310C>G (p.His1104Asp)
c.3610C>G (p.His1204Asp)
c.3619C>G (p.His1207Asp)
c.2965C>G (p.His989Asp)
c.3409C>G (p.His1137Asp)
9g.135786494C>TCA201424471KCNT1c.3475C>T (p.His1159Tyr)
c.3316C>T (p.His1106Tyr)
c.3223C>T (p.His1075Tyr)
c.3232C>T (p.His1078Tyr)
c.3376C>T (p.His1126Tyr)
c.*3085C>T (n.*3085C>T)
c.3358C>T (p.His1120Tyr)
c.3397C>T (p.His1133Tyr)
c.3412C>T (p.His1138Tyr)
c.3418C>T (p.His1140Tyr)
c.3340C>T (p.His1114Tyr)
c.3310C>T (p.His1104Tyr)
c.3610C>T (p.His1204Tyr)
c.3619C>T (p.His1207Tyr)
c.2965C>T (p.His989Tyr)
c.3409C>T (p.His1137Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135786495A>CCA375492397KCNT1c.3476A>C (p.His1159Pro)
c.3317A>C (p.His1106Pro)
c.3224A>C (p.His1075Pro)
c.3233A>C (p.His1078Pro)
c.3377A>C (p.His1126Pro)
c.*3086A>C (n.*3086A>C)
c.3359A>C (p.His1120Pro)
c.3398A>C (p.His1133Pro)
c.3413A>C (p.His1138Pro)
c.3419A>C (p.His1140Pro)
c.3341A>C (p.His1114Pro)
c.3311A>C (p.His1104Pro)
c.3611A>C (p.His1204Pro)
c.3620A>C (p.His1207Pro)
c.2966A>C (p.His989Pro)
c.3410A>C (p.His1137Pro)
9g.135786495A>GCA375492399KCNT1c.3476A>G (p.His1159Arg)
c.3317A>G (p.His1106Arg)
c.3224A>G (p.His1075Arg)
c.3233A>G (p.His1078Arg)
c.3377A>G (p.His1126Arg)
c.*3086A>G (n.*3086A>G)
c.3359A>G (p.His1120Arg)
c.3398A>G (p.His1133Arg)
c.3413A>G (p.His1138Arg)
c.3419A>G (p.His1140Arg)
c.3341A>G (p.His1114Arg)
c.3311A>G (p.His1104Arg)
c.3611A>G (p.His1204Arg)
c.3620A>G (p.His1207Arg)
c.2966A>G (p.His989Arg)
c.3410A>G (p.His1137Arg)
9g.135786495A>TCA375492402KCNT1c.3476A>T (p.His1159Leu)
c.3317A>T (p.His1106Leu)
c.3224A>T (p.His1075Leu)
c.3233A>T (p.His1078Leu)
c.3377A>T (p.His1126Leu)
c.*3086A>T (n.*3086A>T)
c.3359A>T (p.His1120Leu)
c.3398A>T (p.His1133Leu)
c.3413A>T (p.His1138Leu)
c.3419A>T (p.His1140Leu)
c.3341A>T (p.His1114Leu)
c.3311A>T (p.His1104Leu)
c.3611A>T (p.His1204Leu)
c.3620A>T (p.His1207Leu)
c.2966A>T (p.His989Leu)
c.3410A>T (p.His1137Leu)
 gnomAD v4
9g.135786496C>ACA375492407KCNT1c.3477C>A (p.His1159Gln)
c.3318C>A (p.His1106Gln)
c.3225C>A (p.His1075Gln)
c.3234C>A (p.His1078Gln)
c.3378C>A (p.His1126Gln)
c.*3087C>A (n.*3087C>A)
c.3360C>A (p.His1120Gln)
c.3399C>A (p.His1133Gln)
c.3414C>A (p.His1138Gln)
c.3420C>A (p.His1140Gln)
c.3342C>A (p.His1114Gln)
c.3312C>A (p.His1104Gln)
c.3612C>A (p.His1204Gln)
c.3621C>A (p.His1207Gln)
c.2967C>A (p.His989Gln)
c.3411C>A (p.His1137Gln)
9g.135786496C=CA1883888515KCNT1c.3477C= (p.His1159=)
c.3318C= (p.His1106=)
c.3225C= (p.His1075=)
c.3234C= (p.His1078=)
c.3378C= (p.His1126=)
c.*3087C= (n.*3087C=)
c.3360C= (p.His1120=)
c.3399C= (p.His1133=)
c.3414C= (p.His1138=)
c.3420C= (p.His1140=)
c.3342C= (p.His1114=)
c.3312C= (p.His1104=)
c.3612C= (p.His1204=)
c.3621C= (p.His1207=)
c.2967C= (p.His989=)
c.3411C= (p.His1137=)
9g.135786496C>GCA375492408KCNT1c.3477C>G (p.His1159Gln)
c.3318C>G (p.His1106Gln)
c.3225C>G (p.His1075Gln)
c.3234C>G (p.His1078Gln)
c.3378C>G (p.His1126Gln)
c.*3087C>G (n.*3087C>G)
c.3360C>G (p.His1120Gln)
c.3399C>G (p.His1133Gln)
c.3414C>G (p.His1138Gln)
c.3420C>G (p.His1140Gln)
c.3342C>G (p.His1114Gln)
c.3312C>G (p.His1104Gln)
c.3612C>G (p.His1204Gln)
c.3621C>G (p.His1207Gln)
c.2967C>G (p.His989Gln)
c.3411C>G (p.His1137Gln)
9g.135786496C>TCA467699258KCNT1c.3477C>T (p.His1159=)
c.3318C>T (p.His1106=)
c.3225C>T (p.His1075=)
c.3234C>T (p.His1078=)
c.3378C>T (p.His1126=)
c.*3087C>T (n.*3087C>T)
c.3360C>T (p.His1120=)
c.3399C>T (p.His1133=)
c.3414C>T (p.His1138=)
c.3420C>T (p.His1140=)
c.3342C>T (p.His1114=)
c.3312C>T (p.His1104=)
c.3612C>T (p.His1204=)
c.3621C>T (p.His1207=)
c.2967C>T (p.His989=)
c.3411C>T (p.His1137=)
 dbSNP gnomAD v2 gnomAD v4
9g.135786497C>ACA375492411KCNT1c.3478C>A (p.Leu1160Met)
c.3319C>A (p.Leu1107Met)
c.3226C>A (p.Leu1076Met)
c.3235C>A (p.Leu1079Met)
c.3379C>A (p.Leu1127Met)
c.*3088C>A (n.*3088C>A)
c.3361C>A (p.Leu1121Met)
c.3400C>A (p.Leu1134Met)
c.3415C>A (p.Leu1139Met)
c.3421C>A (p.Leu1141Met)
c.3343C>A (p.Leu1115Met)
c.3313C>A (p.Leu1105Met)
c.3613C>A (p.Leu1205Met)
c.3622C>A (p.Leu1208Met)
c.2968C>A (p.Leu990Met)
c.3412C>A (p.Leu1138Met)
9g.135786497C>GCA375492412KCNT1c.3478C>G (p.Leu1160Val)
c.3319C>G (p.Leu1107Val)
c.3226C>G (p.Leu1076Val)
c.3235C>G (p.Leu1079Val)
c.3379C>G (p.Leu1127Val)
c.*3088C>G (n.*3088C>G)
c.3361C>G (p.Leu1121Val)
c.3400C>G (p.Leu1134Val)
c.3415C>G (p.Leu1139Val)
c.3421C>G (p.Leu1141Val)
c.3343C>G (p.Leu1115Val)
c.3313C>G (p.Leu1105Val)
c.3613C>G (p.Leu1205Val)
c.3622C>G (p.Leu1208Val)
c.2968C>G (p.Leu990Val)
c.3412C>G (p.Leu1138Val)
9g.135786497C>TCA467699259KCNT1c.3478C>T (p.Leu1160=)
c.3319C>T (p.Leu1107=)
c.3226C>T (p.Leu1076=)
c.3235C>T (p.Leu1079=)
c.3379C>T (p.Leu1127=)
c.*3088C>T (n.*3088C>T)
c.3361C>T (p.Leu1121=)
c.3400C>T (p.Leu1134=)
c.3415C>T (p.Leu1139=)
c.3421C>T (p.Leu1141=)
c.3343C>T (p.Leu1115=)
c.3313C>T (p.Leu1105=)
c.3613C>T (p.Leu1205=)
c.3622C>T (p.Leu1208=)
c.2968C>T (p.Leu990=)
c.3412C>T (p.Leu1138=)
 ClinVar
9g.135786498T>ACA375492416KCNT1c.3479T>A (p.Leu1160Gln)
c.3320T>A (p.Leu1107Gln)
c.3227T>A (p.Leu1076Gln)
c.3236T>A (p.Leu1079Gln)
c.3380T>A (p.Leu1127Gln)
c.*3089T>A (n.*3089T>A)
c.3362T>A (p.Leu1121Gln)
c.3401T>A (p.Leu1134Gln)
c.3416T>A (p.Leu1139Gln)
c.3422T>A (p.Leu1141Gln)
c.3344T>A (p.Leu1115Gln)
c.3314T>A (p.Leu1105Gln)
c.3614T>A (p.Leu1205Gln)
c.3623T>A (p.Leu1208Gln)
c.2969T>A (p.Leu990Gln)
c.3413T>A (p.Leu1138Gln)
9g.135786498T>CCA375492418KCNT1c.3479T>C (p.Leu1160Pro)
c.3320T>C (p.Leu1107Pro)
c.3227T>C (p.Leu1076Pro)
c.3236T>C (p.Leu1079Pro)
c.3380T>C (p.Leu1127Pro)
c.*3089T>C (n.*3089T>C)
c.3362T>C (p.Leu1121Pro)
c.3401T>C (p.Leu1134Pro)
c.3416T>C (p.Leu1139Pro)
c.3422T>C (p.Leu1141Pro)
c.3344T>C (p.Leu1115Pro)
c.3314T>C (p.Leu1105Pro)
c.3614T>C (p.Leu1205Pro)
c.3623T>C (p.Leu1208Pro)
c.2969T>C (p.Leu990Pro)
c.3413T>C (p.Leu1138Pro)
 gnomAD v4
9g.135786498T>GCA375492421KCNT1c.3479T>G (p.Leu1160Arg)
c.3320T>G (p.Leu1107Arg)
c.3227T>G (p.Leu1076Arg)
c.3236T>G (p.Leu1079Arg)
c.3380T>G (p.Leu1127Arg)
c.*3089T>G (n.*3089T>G)
c.3362T>G (p.Leu1121Arg)
c.3401T>G (p.Leu1134Arg)
c.3416T>G (p.Leu1139Arg)
c.3422T>G (p.Leu1141Arg)
c.3344T>G (p.Leu1115Arg)
c.3314T>G (p.Leu1105Arg)
c.3614T>G (p.Leu1205Arg)
c.3623T>G (p.Leu1208Arg)
c.2969T>G (p.Leu990Arg)
c.3413T>G (p.Leu1138Arg)
9g.135786499G>ACA467699260KCNT1c.3480G>A (p.Leu1160=)
c.3321G>A (p.Leu1107=)
c.3228G>A (p.Leu1076=)
c.3237G>A (p.Leu1079=)
c.3381G>A (p.Leu1127=)
c.*3090G>A (n.*3090G>A)
c.3363G>A (p.Leu1121=)
c.3402G>A (p.Leu1134=)
c.3417G>A (p.Leu1139=)
c.3423G>A (p.Leu1141=)
c.3345G>A (p.Leu1115=)
c.3315G>A (p.Leu1105=)
c.3615G>A (p.Leu1205=)
c.3624G>A (p.Leu1208=)
c.2970G>A (p.Leu990=)
c.3414G>A (p.Leu1138=)
9g.135786499G>CCA467699261KCNT1c.3480G>C (p.Leu1160=)
c.3321G>C (p.Leu1107=)
c.3228G>C (p.Leu1076=)
c.3237G>C (p.Leu1079=)
c.3381G>C (p.Leu1127=)
c.*3090G>C (n.*3090G>C)
c.3363G>C (p.Leu1121=)
c.3402G>C (p.Leu1134=)
c.3417G>C (p.Leu1139=)
c.3423G>C (p.Leu1141=)
c.3345G>C (p.Leu1115=)
c.3315G>C (p.Leu1105=)
c.3615G>C (p.Leu1205=)
c.3624G>C (p.Leu1208=)
c.2970G>C (p.Leu990=)
c.3414G>C (p.Leu1138=)
9g.135786499G>TCA467699262KCNT1c.3480G>T (p.Leu1160=)
c.3321G>T (p.Leu1107=)
c.3228G>T (p.Leu1076=)
c.3237G>T (p.Leu1079=)
c.3381G>T (p.Leu1127=)
c.*3090G>T (n.*3090G>T)
c.3363G>T (p.Leu1121=)
c.3402G>T (p.Leu1134=)
c.3417G>T (p.Leu1139=)
c.3423G>T (p.Leu1141=)
c.3345G>T (p.Leu1115=)
c.3315G>T (p.Leu1105=)
c.3615G>T (p.Leu1205=)
c.3624G>T (p.Leu1208=)
c.2970G>T (p.Leu990=)
c.3414G>T (p.Leu1138=)
 gnomAD v4
9g.135786502delCA2692525813KCNT1c.3483del (p.Leu1162CysfsTer9)
c.3324del (p.Leu1109CysfsTer9)
c.3231del (p.Leu1078CysfsTer9)
c.3240del (p.Leu1081CysfsTer9)
c.3384del (p.Leu1129CysfsTer9)
c.*3093del (n.*3093del)
c.3366del (p.Leu1123CysfsTer9)
c.3405del (p.Leu1136CysfsTer9)
c.3420del (p.Leu1141CysfsTer9)
c.3426del (p.Leu1143CysfsTer9)
c.3348del (p.Leu1117CysfsTer9)
c.3318del (p.Leu1107CysfsTer9)
c.3618del (p.Leu1207CysfsTer9)
c.3627del (p.Leu1210CysfsTer9)
c.2973del (p.Leu992CysfsTer9)
c.3417del (p.Leu1140CysfsTer9)
 gnomAD v4
9g.135786500G>ACA375492423KCNT1c.3481G>A (p.Gly1161Arg)
c.3322G>A (p.Gly1108Arg)
c.3229G>A (p.Gly1077Arg)
c.3238G>A (p.Gly1080Arg)
c.3382G>A (p.Gly1128Arg)
c.*3091G>A (n.*3091G>A)
c.3364G>A (p.Gly1122Arg)
c.3403G>A (p.Gly1135Arg)
c.3418G>A (p.Gly1140Arg)
c.3424G>A (p.Gly1142Arg)
c.3346G>A (p.Gly1116Arg)
c.3316G>A (p.Gly1106Arg)
c.3616G>A (p.Gly1206Arg)
c.3625G>A (p.Gly1209Arg)
c.2971G>A (p.Gly991Arg)
c.3415G>A (p.Gly1139Arg)
 gnomAD v4
9g.135786500G>CCA375492424KCNT1c.3481G>C (p.Gly1161Arg)
c.3322G>C (p.Gly1108Arg)
c.3229G>C (p.Gly1077Arg)
c.3238G>C (p.Gly1080Arg)
c.3382G>C (p.Gly1128Arg)
c.*3091G>C (n.*3091G>C)
c.3364G>C (p.Gly1122Arg)
c.3403G>C (p.Gly1135Arg)
c.3418G>C (p.Gly1140Arg)
c.3424G>C (p.Gly1142Arg)
c.3346G>C (p.Gly1116Arg)
c.3316G>C (p.Gly1106Arg)
c.3616G>C (p.Gly1206Arg)
c.3625G>C (p.Gly1209Arg)
c.2971G>C (p.Gly991Arg)
c.3415G>C (p.Gly1139Arg)
9g.135786500G>TCA375492426KCNT1c.3481G>T (p.Gly1161Trp)
c.3322G>T (p.Gly1108Trp)
c.3229G>T (p.Gly1077Trp)
c.3238G>T (p.Gly1080Trp)
c.3382G>T (p.Gly1128Trp)
c.*3091G>T (n.*3091G>T)
c.3364G>T (p.Gly1122Trp)
c.3403G>T (p.Gly1135Trp)
c.3418G>T (p.Gly1140Trp)
c.3424G>T (p.Gly1142Trp)
c.3346G>T (p.Gly1116Trp)
c.3316G>T (p.Gly1106Trp)
c.3616G>T (p.Gly1206Trp)
c.3625G>T (p.Gly1209Trp)
c.2971G>T (p.Gly991Trp)
c.3415G>T (p.Gly1139Trp)
 gnomAD v4
9g.135786501G>ACA375492429KCNT1c.3482G>A (p.Gly1161Glu)
c.3323G>A (p.Gly1108Glu)
c.3230G>A (p.Gly1077Glu)
c.3239G>A (p.Gly1080Glu)
c.3383G>A (p.Gly1128Glu)
c.*3092G>A (n.*3092G>A)
c.3365G>A (p.Gly1122Glu)
c.3404G>A (p.Gly1135Glu)
c.3419G>A (p.Gly1140Glu)
c.3425G>A (p.Gly1142Glu)
c.3347G>A (p.Gly1116Glu)
c.3317G>A (p.Gly1106Glu)
c.3617G>A (p.Gly1206Glu)
c.3626G>A (p.Gly1209Glu)
c.2972G>A (p.Gly991Glu)
c.3416G>A (p.Gly1139Glu)
9g.135786501G>CCA375492431KCNT1c.3482G>C (p.Gly1161Ala)
c.3323G>C (p.Gly1108Ala)
c.3230G>C (p.Gly1077Ala)
c.3239G>C (p.Gly1080Ala)
c.3383G>C (p.Gly1128Ala)
c.*3092G>C (n.*3092G>C)
c.3365G>C (p.Gly1122Ala)
c.3404G>C (p.Gly1135Ala)
c.3419G>C (p.Gly1140Ala)
c.3425G>C (p.Gly1142Ala)
c.3347G>C (p.Gly1116Ala)
c.3317G>C (p.Gly1106Ala)
c.3617G>C (p.Gly1206Ala)
c.3626G>C (p.Gly1209Ala)
c.2972G>C (p.Gly991Ala)
c.3416G>C (p.Gly1139Ala)
9g.135786501G>TCA375492433KCNT1c.3482G>T (p.Gly1161Val)
c.3323G>T (p.Gly1108Val)
c.3230G>T (p.Gly1077Val)
c.3239G>T (p.Gly1080Val)
c.3383G>T (p.Gly1128Val)
c.*3092G>T (n.*3092G>T)
c.3365G>T (p.Gly1122Val)
c.3404G>T (p.Gly1135Val)
c.3419G>T (p.Gly1140Val)
c.3425G>T (p.Gly1142Val)
c.3347G>T (p.Gly1116Val)
c.3317G>T (p.Gly1106Val)
c.3617G>T (p.Gly1206Val)
c.3626G>T (p.Gly1209Val)
c.2972G>T (p.Gly991Val)
c.3416G>T (p.Gly1139Val)
9g.135786502G>ACA467699263KCNT1c.3483G>A (p.Gly1161=)
c.3324G>A (p.Gly1108=)
c.3231G>A (p.Gly1077=)
c.3240G>A (p.Gly1080=)
c.3384G>A (p.Gly1128=)
c.*3093G>A (n.*3093G>A)
c.3366G>A (p.Gly1122=)
c.3405G>A (p.Gly1135=)
c.3420G>A (p.Gly1140=)
c.3426G>A (p.Gly1142=)
c.3348G>A (p.Gly1116=)
c.3318G>A (p.Gly1106=)
c.3618G>A (p.Gly1206=)
c.3627G>A (p.Gly1209=)
c.2973G>A (p.Gly991=)
c.3417G>A (p.Gly1139=)
 gnomAD v4
9g.135786502G>CCA467699264KCNT1c.3483G>C (p.Gly1161=)
c.3324G>C (p.Gly1108=)
c.3231G>C (p.Gly1077=)
c.3240G>C (p.Gly1080=)
c.3384G>C (p.Gly1128=)
c.*3093G>C (n.*3093G>C)
c.3366G>C (p.Gly1122=)
c.3405G>C (p.Gly1135=)
c.3420G>C (p.Gly1140=)
c.3426G>C (p.Gly1142=)
c.3348G>C (p.Gly1116=)
c.3318G>C (p.Gly1106=)
c.3618G>C (p.Gly1206=)
c.3627G>C (p.Gly1209=)
c.2973G>C (p.Gly991=)
c.3417G>C (p.Gly1139=)
9g.135786502G=CA1883888519KCNT1c.3483G= (p.Gly1161=)
c.3324G= (p.Gly1108=)
c.3231G= (p.Gly1077=)
c.3240G= (p.Gly1080=)
c.3384G= (p.Gly1128=)
c.*3093G= (n.*3093G=)
c.3366G= (p.Gly1122=)
c.3405G= (p.Gly1135=)
c.3420G= (p.Gly1140=)
c.3426G= (p.Gly1142=)
c.3348G= (p.Gly1116=)
c.3318G= (p.Gly1106=)
c.3618G= (p.Gly1206=)
c.3627G= (p.Gly1209=)
c.2973G= (p.Gly991=)
c.3417G= (p.Gly1139=)
9g.135786502G>TCA5327826KCNT1c.3483G>T (p.Gly1161=)
c.3324G>T (p.Gly1108=)
c.3231G>T (p.Gly1077=)
c.3240G>T (p.Gly1080=)
c.3384G>T (p.Gly1128=)
c.*3093G>T (n.*3093G>T)
c.3366G>T (p.Gly1122=)
c.3405G>T (p.Gly1135=)
c.3420G>T (p.Gly1140=)
c.3426G>T (p.Gly1142=)
c.3348G>T (p.Gly1116=)
c.3318G>T (p.Gly1106=)
c.3618G>T (p.Gly1206=)
c.3627G>T (p.Gly1209=)
c.2973G>T (p.Gly991=)
c.3417G>T (p.Gly1139=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786503C>ACA375492437KCNT1c.3484C>A (p.Leu1162Met)
c.3325C>A (p.Leu1109Met)
c.3232C>A (p.Leu1078Met)
c.3241C>A (p.Leu1081Met)
c.3385C>A (p.Leu1129Met)
c.*3094C>A (n.*3094C>A)
c.3367C>A (p.Leu1123Met)
c.3406C>A (p.Leu1136Met)
c.3421C>A (p.Leu1141Met)
c.3427C>A (p.Leu1143Met)
c.3349C>A (p.Leu1117Met)
c.3319C>A (p.Leu1107Met)
c.3619C>A (p.Leu1207Met)
c.3628C>A (p.Leu1210Met)
c.2974C>A (p.Leu992Met)
c.3418C>A (p.Leu1140Met)
 gnomAD v4
9g.135786503C>GCA375492439KCNT1c.3484C>G (p.Leu1162Val)
c.3325C>G (p.Leu1109Val)
c.3232C>G (p.Leu1078Val)
c.3241C>G (p.Leu1081Val)
c.3385C>G (p.Leu1129Val)
c.*3094C>G (n.*3094C>G)
c.3367C>G (p.Leu1123Val)
c.3406C>G (p.Leu1136Val)
c.3421C>G (p.Leu1141Val)
c.3427C>G (p.Leu1143Val)
c.3349C>G (p.Leu1117Val)
c.3319C>G (p.Leu1107Val)
c.3619C>G (p.Leu1207Val)
c.3628C>G (p.Leu1210Val)
c.2974C>G (p.Leu992Val)
c.3418C>G (p.Leu1140Val)
9g.135786503C>TCA467699265KCNT1c.3484C>T (p.Leu1162=)
c.3325C>T (p.Leu1109=)
c.3232C>T (p.Leu1078=)
c.3241C>T (p.Leu1081=)
c.3385C>T (p.Leu1129=)
c.*3094C>T (n.*3094C>T)
c.3367C>T (p.Leu1123=)
c.3406C>T (p.Leu1136=)
c.3421C>T (p.Leu1141=)
c.3427C>T (p.Leu1143=)
c.3349C>T (p.Leu1117=)
c.3319C>T (p.Leu1107=)
c.3619C>T (p.Leu1207=)
c.3628C>T (p.Leu1210=)
c.2974C>T (p.Leu992=)
c.3418C>T (p.Leu1140=)
 gnomAD v4
9g.135786504T>ACA375492444KCNT1c.3485T>A (p.Leu1162Gln)
c.3326T>A (p.Leu1109Gln)
c.3233T>A (p.Leu1078Gln)
c.3242T>A (p.Leu1081Gln)
c.3386T>A (p.Leu1129Gln)
c.*3095T>A (n.*3095T>A)
c.3368T>A (p.Leu1123Gln)
c.3407T>A (p.Leu1136Gln)
c.3422T>A (p.Leu1141Gln)
c.3428T>A (p.Leu1143Gln)
c.3350T>A (p.Leu1117Gln)
c.3320T>A (p.Leu1107Gln)
c.3620T>A (p.Leu1207Gln)
c.3629T>A (p.Leu1210Gln)
c.2975T>A (p.Leu992Gln)
c.3419T>A (p.Leu1140Gln)
9g.135786504T>CCA375492445KCNT1c.3485T>C (p.Leu1162Pro)
c.3326T>C (p.Leu1109Pro)
c.3233T>C (p.Leu1078Pro)
c.3242T>C (p.Leu1081Pro)
c.3386T>C (p.Leu1129Pro)
c.*3095T>C (n.*3095T>C)
c.3368T>C (p.Leu1123Pro)
c.3407T>C (p.Leu1136Pro)
c.3422T>C (p.Leu1141Pro)
c.3428T>C (p.Leu1143Pro)
c.3350T>C (p.Leu1117Pro)
c.3320T>C (p.Leu1107Pro)
c.3620T>C (p.Leu1207Pro)
c.3629T>C (p.Leu1210Pro)
c.2975T>C (p.Leu992Pro)
c.3419T>C (p.Leu1140Pro)
9g.135786504T>GCA375492442KCNT1c.3485T>G (p.Leu1162Arg)
c.3326T>G (p.Leu1109Arg)
c.3233T>G (p.Leu1078Arg)
c.3242T>G (p.Leu1081Arg)
c.3386T>G (p.Leu1129Arg)
c.*3095T>G (n.*3095T>G)
c.3368T>G (p.Leu1123Arg)
c.3407T>G (p.Leu1136Arg)
c.3422T>G (p.Leu1141Arg)
c.3428T>G (p.Leu1143Arg)
c.3350T>G (p.Leu1117Arg)
c.3320T>G (p.Leu1107Arg)
c.3620T>G (p.Leu1207Arg)
c.3629T>G (p.Leu1210Arg)
c.2975T>G (p.Leu992Arg)
c.3419T>G (p.Leu1140Arg)
9g.135786505G>ACA467699266KCNT1c.3486G>A (p.Leu1162=)
c.3327G>A (p.Leu1109=)
c.3234G>A (p.Leu1078=)
c.3243G>A (p.Leu1081=)
c.3387G>A (p.Leu1129=)
c.*3096G>A (n.*3096G>A)
c.3369G>A (p.Leu1123=)
c.3408G>A (p.Leu1136=)
c.3423G>A (p.Leu1141=)
c.3429G>A (p.Leu1143=)
c.3351G>A (p.Leu1117=)
c.3321G>A (p.Leu1107=)
c.3621G>A (p.Leu1207=)
c.3630G>A (p.Leu1210=)
c.2976G>A (p.Leu992=)
c.3420G>A (p.Leu1140=)
 gnomAD v4
9g.135786505G>CCA467699267KCNT1c.3486G>C (p.Leu1162=)
c.3327G>C (p.Leu1109=)
c.3234G>C (p.Leu1078=)
c.3243G>C (p.Leu1081=)
c.3387G>C (p.Leu1129=)
c.*3096G>C (n.*3096G>C)
c.3369G>C (p.Leu1123=)
c.3408G>C (p.Leu1136=)
c.3423G>C (p.Leu1141=)
c.3429G>C (p.Leu1143=)
c.3351G>C (p.Leu1117=)
c.3321G>C (p.Leu1107=)
c.3621G>C (p.Leu1207=)
c.3630G>C (p.Leu1210=)
c.2976G>C (p.Leu992=)
c.3420G>C (p.Leu1140=)
9g.135786505G>TCA467699268KCNT1c.3486G>T (p.Leu1162=)
c.3327G>T (p.Leu1109=)
c.3234G>T (p.Leu1078=)
c.3243G>T (p.Leu1081=)
c.3387G>T (p.Leu1129=)
c.*3096G>T (n.*3096G>T)
c.3369G>T (p.Leu1123=)
c.3408G>T (p.Leu1136=)
c.3423G>T (p.Leu1141=)
c.3429G>T (p.Leu1143=)
c.3351G>T (p.Leu1117=)
c.3321G>T (p.Leu1107=)
c.3621G>T (p.Leu1207=)
c.3630G>T (p.Leu1210=)
c.2976G>T (p.Leu992=)
c.3420G>T (p.Leu1140=)
 gnomAD v4
9g.135786506C>ACA375492446KCNT1c.3487C>A (p.Pro1163Thr)
c.3328C>A (p.Pro1110Thr)
c.3235C>A (p.Pro1079Thr)
c.3244C>A (p.Pro1082Thr)
c.3388C>A (p.Pro1130Thr)
c.*3097C>A (n.*3097C>A)
c.3370C>A (p.Pro1124Thr)
c.3409C>A (p.Pro1137Thr)
c.3424C>A (p.Pro1142Thr)
c.3430C>A (p.Pro1144Thr)
c.3352C>A (p.Pro1118Thr)
c.3322C>A (p.Pro1108Thr)
c.3622C>A (p.Pro1208Thr)
c.3631C>A (p.Pro1211Thr)
c.2977C>A (p.Pro993Thr)
c.3421C>A (p.Pro1141Thr)
 gnomAD v4
9g.135786506C=CA1883888522KCNT1c.3487C= (p.Pro1163=)
c.3328C= (p.Pro1110=)
c.3235C= (p.Pro1079=)
c.3244C= (p.Pro1082=)
c.3388C= (p.Pro1130=)
c.*3097C= (n.*3097C=)
c.3370C= (p.Pro1124=)
c.3409C= (p.Pro1137=)
c.3424C= (p.Pro1142=)
c.3430C= (p.Pro1144=)
c.3352C= (p.Pro1118=)
c.3322C= (p.Pro1108=)
c.3622C= (p.Pro1208=)
c.3631C= (p.Pro1211=)
c.2977C= (p.Pro993=)
c.3421C= (p.Pro1141=)
9g.135786506C>GCA375492447KCNT1c.3487C>G (p.Pro1163Ala)
c.3328C>G (p.Pro1110Ala)
c.3235C>G (p.Pro1079Ala)
c.3244C>G (p.Pro1082Ala)
c.3388C>G (p.Pro1130Ala)
c.*3097C>G (n.*3097C>G)
c.3370C>G (p.Pro1124Ala)
c.3409C>G (p.Pro1137Ala)
c.3424C>G (p.Pro1142Ala)
c.3430C>G (p.Pro1144Ala)
c.3352C>G (p.Pro1118Ala)
c.3322C>G (p.Pro1108Ala)
c.3622C>G (p.Pro1208Ala)
c.3631C>G (p.Pro1211Ala)
c.2977C>G (p.Pro993Ala)
c.3421C>G (p.Pro1141Ala)
9g.135786506C>TCA375492448KCNT1c.3487C>T (p.Pro1163Ser)
c.3328C>T (p.Pro1110Ser)
c.3235C>T (p.Pro1079Ser)
c.3244C>T (p.Pro1082Ser)
c.3388C>T (p.Pro1130Ser)
c.*3097C>T (n.*3097C>T)
c.3370C>T (p.Pro1124Ser)
c.3409C>T (p.Pro1137Ser)
c.3424C>T (p.Pro1142Ser)
c.3430C>T (p.Pro1144Ser)
c.3352C>T (p.Pro1118Ser)
c.3322C>T (p.Pro1108Ser)
c.3622C>T (p.Pro1208Ser)
c.3631C>T (p.Pro1211Ser)
c.2977C>T (p.Pro993Ser)
c.3421C>T (p.Pro1141Ser)
 dbSNP gnomAD v4
9g.135786508delCA2579510982KCNT1c.3489del (p.Thr1164ProfsTer7)
c.3330del (p.Thr1111ProfsTer7)
c.3237del (p.Thr1080ProfsTer7)
c.3246del (p.Thr1083ProfsTer7)
c.3390del (p.Thr1131ProfsTer7)
c.*3099del (n.*3099del)
c.3372del (p.Thr1125ProfsTer7)
c.3411del (p.Thr1138ProfsTer7)
c.3426del (p.Thr1143ProfsTer7)
c.3432del (p.Thr1145ProfsTer7)
c.3354del (p.Thr1119ProfsTer7)
c.3324del (p.Thr1109ProfsTer7)
c.3624del (p.Thr1209ProfsTer7)
c.3633del (p.Thr1212ProfsTer7)
c.2979del (p.Thr994ProfsTer7)
c.3423del (p.Thr1142ProfsTer7)
9g.135786507C>ACA375492449KCNT1c.3488C>A (p.Pro1163His)
c.3329C>A (p.Pro1110His)
c.3236C>A (p.Pro1079His)
c.3245C>A (p.Pro1082His)
c.3389C>A (p.Pro1130His)
c.*3098C>A (n.*3098C>A)
c.3371C>A (p.Pro1124His)
c.3410C>A (p.Pro1137His)
c.3425C>A (p.Pro1142His)
c.3431C>A (p.Pro1144His)
c.3353C>A (p.Pro1118His)
c.3323C>A (p.Pro1108His)
c.3623C>A (p.Pro1208His)
c.3632C>A (p.Pro1211His)
c.2978C>A (p.Pro993His)
c.3422C>A (p.Pro1141His)
 gnomAD v4
9g.135786507C=CA1883888529KCNT1c.3488C= (p.Pro1163=)
c.3329C= (p.Pro1110=)
c.3236C= (p.Pro1079=)
c.3245C= (p.Pro1082=)
c.3389C= (p.Pro1130=)
c.*3098C= (n.*3098C=)
c.3371C= (p.Pro1124=)
c.3410C= (p.Pro1137=)
c.3425C= (p.Pro1142=)
c.3431C= (p.Pro1144=)
c.3353C= (p.Pro1118=)
c.3323C= (p.Pro1108=)
c.3623C= (p.Pro1208=)
c.3632C= (p.Pro1211=)
c.2978C= (p.Pro993=)
c.3422C= (p.Pro1141=)
9g.135786507C>GCA375492450KCNT1c.3488C>G (p.Pro1163Arg)
c.3329C>G (p.Pro1110Arg)
c.3236C>G (p.Pro1079Arg)
c.3245C>G (p.Pro1082Arg)
c.3389C>G (p.Pro1130Arg)
c.*3098C>G (n.*3098C>G)
c.3371C>G (p.Pro1124Arg)
c.3410C>G (p.Pro1137Arg)
c.3425C>G (p.Pro1142Arg)
c.3431C>G (p.Pro1144Arg)
c.3353C>G (p.Pro1118Arg)
c.3323C>G (p.Pro1108Arg)
c.3623C>G (p.Pro1208Arg)
c.3632C>G (p.Pro1211Arg)
c.2978C>G (p.Pro993Arg)
c.3422C>G (p.Pro1141Arg)
9g.135786507C>TCA375492451KCNT1c.3488C>T (p.Pro1163Leu)
c.3329C>T (p.Pro1110Leu)
c.3236C>T (p.Pro1079Leu)
c.3245C>T (p.Pro1082Leu)
c.3389C>T (p.Pro1130Leu)
c.*3098C>T (n.*3098C>T)
c.3371C>T (p.Pro1124Leu)
c.3410C>T (p.Pro1137Leu)
c.3425C>T (p.Pro1142Leu)
c.3431C>T (p.Pro1144Leu)
c.3353C>T (p.Pro1118Leu)
c.3323C>T (p.Pro1108Leu)
c.3623C>T (p.Pro1208Leu)
c.3632C>T (p.Pro1211Leu)
c.2978C>T (p.Pro993Leu)
c.3422C>T (p.Pro1141Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135786512_135786514delCA467699269KCNT1c.3493_3495del (p.Thr1165del)
c.3334_3336del (p.Thr1112del)
c.3241_3243del (p.Thr1081del)
c.3250_3252del (p.Thr1084del)
c.3394_3396del (p.Thr1132del)
c.*3103_*3105del (n.*3103_*3105del)
c.3376_3378del (p.Thr1126del)
c.3415_3417del (p.Thr1139del)
c.3430_3432del (p.Thr1144del)
c.3436_3438del (p.Thr1146del)
c.3358_3360del (p.Thr1120del)
c.3328_3330del (p.Thr1110del)
c.3628_3630del (p.Thr1210del)
c.3637_3639del (p.Thr1213del)
c.2983_2985del (p.Thr995del)
c.3427_3429del (p.Thr1143del)
9g.135786508C>ACA5327827KCNT1c.3489C>A (p.Pro1163=)
c.3330C>A (p.Pro1110=)
c.3237C>A (p.Pro1079=)
c.3246C>A (p.Pro1082=)
c.3390C>A (p.Pro1130=)
c.*3099C>A (n.*3099C>A)
c.3372C>A (p.Pro1124=)
c.3411C>A (p.Pro1137=)
c.3426C>A (p.Pro1142=)
c.3432C>A (p.Pro1144=)
c.3354C>A (p.Pro1118=)
c.3324C>A (p.Pro1108=)
c.3624C>A (p.Pro1208=)
c.3633C>A (p.Pro1211=)
c.2979C>A (p.Pro993=)
c.3423C>A (p.Pro1141=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135786508C=CA1883888535KCNT1c.3489C= (p.Pro1163=)
c.3330C= (p.Pro1110=)
c.3237C= (p.Pro1079=)
c.3246C= (p.Pro1082=)
c.3390C= (p.Pro1130=)
c.*3099C= (n.*3099C=)
c.3372C= (p.Pro1124=)
c.3411C= (p.Pro1137=)
c.3426C= (p.Pro1142=)
c.3432C= (p.Pro1144=)
c.3354C= (p.Pro1118=)
c.3324C= (p.Pro1108=)
c.3624C= (p.Pro1208=)
c.3633C= (p.Pro1211=)
c.2979C= (p.Pro993=)
c.3423C= (p.Pro1141=)
9g.135786508C>GCA467699270KCNT1c.3489C>G (p.Pro1163=)
c.3330C>G (p.Pro1110=)
c.3237C>G (p.Pro1079=)
c.3246C>G (p.Pro1082=)
c.3390C>G (p.Pro1130=)
c.*3099C>G (n.*3099C>G)
c.3372C>G (p.Pro1124=)
c.3411C>G (p.Pro1137=)
c.3426C>G (p.Pro1142=)
c.3432C>G (p.Pro1144=)
c.3354C>G (p.Pro1118=)
c.3324C>G (p.Pro1108=)
c.3624C>G (p.Pro1208=)
c.3633C>G (p.Pro1211=)
c.2979C>G (p.Pro993=)
c.3423C>G (p.Pro1141=)
 dbSNP gnomAD v4
9g.135786508C>TCA467699271KCNT1c.3489C>T (p.Pro1163=)
c.3330C>T (p.Pro1110=)
c.3237C>T (p.Pro1079=)
c.3246C>T (p.Pro1082=)
c.3390C>T (p.Pro1130=)
c.*3099C>T (n.*3099C>T)
c.3372C>T (p.Pro1124=)
c.3411C>T (p.Pro1137=)
c.3426C>T (p.Pro1142=)
c.3432C>T (p.Pro1144=)
c.3354C>T (p.Pro1118=)
c.3324C>T (p.Pro1108=)
c.3624C>T (p.Pro1208=)
c.3633C>T (p.Pro1211=)
c.2979C>T (p.Pro993=)
c.3423C>T (p.Pro1141=)
 gnomAD v4
9g.135786509A>CCA375492452KCNT1c.3490A>C (p.Thr1164Pro)
c.3331A>C (p.Thr1111Pro)
c.3238A>C (p.Thr1080Pro)
c.3247A>C (p.Thr1083Pro)
c.3391A>C (p.Thr1131Pro)
c.*3100A>C (n.*3100A>C)
c.3373A>C (p.Thr1125Pro)
c.3412A>C (p.Thr1138Pro)
c.3427A>C (p.Thr1143Pro)
c.3433A>C (p.Thr1145Pro)
c.3355A>C (p.Thr1119Pro)
c.3325A>C (p.Thr1109Pro)
c.3625A>C (p.Thr1209Pro)
c.3634A>C (p.Thr1212Pro)
c.2980A>C (p.Thr994Pro)
c.3424A>C (p.Thr1142Pro)
9g.135786509A>GCA375492453KCNT1c.3490A>G (p.Thr1164Ala)
c.3331A>G (p.Thr1111Ala)
c.3238A>G (p.Thr1080Ala)
c.3247A>G (p.Thr1083Ala)
c.3391A>G (p.Thr1131Ala)
c.*3100A>G (n.*3100A>G)
c.3373A>G (p.Thr1125Ala)
c.3412A>G (p.Thr1138Ala)
c.3427A>G (p.Thr1143Ala)
c.3433A>G (p.Thr1145Ala)
c.3355A>G (p.Thr1119Ala)
c.3325A>G (p.Thr1109Ala)
c.3625A>G (p.Thr1209Ala)
c.3634A>G (p.Thr1212Ala)
c.2980A>G (p.Thr994Ala)
c.3424A>G (p.Thr1142Ala)
9g.135786509A>TCA375492454KCNT1c.3490A>T (p.Thr1164Ser)
c.3331A>T (p.Thr1111Ser)
c.3238A>T (p.Thr1080Ser)
c.3247A>T (p.Thr1083Ser)
c.3391A>T (p.Thr1131Ser)
c.*3100A>T (n.*3100A>T)
c.3373A>T (p.Thr1125Ser)
c.3412A>T (p.Thr1138Ser)
c.3427A>T (p.Thr1143Ser)
c.3433A>T (p.Thr1145Ser)
c.3355A>T (p.Thr1119Ser)
c.3325A>T (p.Thr1109Ser)
c.3625A>T (p.Thr1209Ser)
c.3634A>T (p.Thr1212Ser)
c.2980A>T (p.Thr994Ser)
c.3424A>T (p.Thr1142Ser)
9g.135786510C>ACA375492455KCNT1c.3491C>A (p.Thr1164Asn)
c.3332C>A (p.Thr1111Asn)
c.3239C>A (p.Thr1080Asn)
c.3248C>A (p.Thr1083Asn)
c.3392C>A (p.Thr1131Asn)
c.*3101C>A (n.*3101C>A)
c.3374C>A (p.Thr1125Asn)
c.3413C>A (p.Thr1138Asn)
c.3428C>A (p.Thr1143Asn)
c.3434C>A (p.Thr1145Asn)
c.3356C>A (p.Thr1119Asn)
c.3326C>A (p.Thr1109Asn)
c.3626C>A (p.Thr1209Asn)
c.3635C>A (p.Thr1212Asn)
c.2981C>A (p.Thr994Asn)
c.3425C>A (p.Thr1142Asn)
 dbSNP gnomAD v3 gnomAD v4
9g.135786510C=CA1883888540KCNT1c.3491C= (p.Thr1164=)
c.3332C= (p.Thr1111=)
c.3239C= (p.Thr1080=)
c.3248C= (p.Thr1083=)
c.3392C= (p.Thr1131=)
c.*3101C= (n.*3101C=)
c.3374C= (p.Thr1125=)
c.3413C= (p.Thr1138=)
c.3428C= (p.Thr1143=)
c.3434C= (p.Thr1145=)
c.3356C= (p.Thr1119=)
c.3326C= (p.Thr1109=)
c.3626C= (p.Thr1209=)
c.3635C= (p.Thr1212=)
c.2981C= (p.Thr994=)
c.3425C= (p.Thr1142=)
9g.135786510C>GCA375492456KCNT1c.3491C>G (p.Thr1164Ser)
c.3332C>G (p.Thr1111Ser)
c.3239C>G (p.Thr1080Ser)
c.3248C>G (p.Thr1083Ser)
c.3392C>G (p.Thr1131Ser)
c.*3101C>G (n.*3101C>G)
c.3374C>G (p.Thr1125Ser)
c.3413C>G (p.Thr1138Ser)
c.3428C>G (p.Thr1143Ser)
c.3434C>G (p.Thr1145Ser)
c.3356C>G (p.Thr1119Ser)
c.3326C>G (p.Thr1109Ser)
c.3626C>G (p.Thr1209Ser)
c.3635C>G (p.Thr1212Ser)
c.2981C>G (p.Thr994Ser)
c.3425C>G (p.Thr1142Ser)
9g.135786510C>TCA375492457KCNT1c.3491C>T (p.Thr1164Ile)
c.3332C>T (p.Thr1111Ile)
c.3239C>T (p.Thr1080Ile)
c.3248C>T (p.Thr1083Ile)
c.3392C>T (p.Thr1131Ile)
c.*3101C>T (n.*3101C>T)
c.3374C>T (p.Thr1125Ile)
c.3413C>T (p.Thr1138Ile)
c.3428C>T (p.Thr1143Ile)
c.3434C>T (p.Thr1145Ile)
c.3356C>T (p.Thr1119Ile)
c.3326C>T (p.Thr1109Ile)
c.3626C>T (p.Thr1209Ile)
c.3635C>T (p.Thr1212Ile)
c.2981C>T (p.Thr994Ile)
c.3425C>T (p.Thr1142Ile)
9g.135786511C>ACA467699272KCNT1c.3492C>A (p.Thr1164=)
c.3333C>A (p.Thr1111=)
c.3240C>A (p.Thr1080=)
c.3249C>A (p.Thr1083=)
c.3393C>A (p.Thr1131=)
c.*3102C>A (n.*3102C>A)
c.3375C>A (p.Thr1125=)
c.3414C>A (p.Thr1138=)
c.3429C>A (p.Thr1143=)
c.3435C>A (p.Thr1145=)
c.3357C>A (p.Thr1119=)
c.3327C>A (p.Thr1109=)
c.3627C>A (p.Thr1209=)
c.3636C>A (p.Thr1212=)
c.2982C>A (p.Thr994=)
c.3426C>A (p.Thr1142=)
 gnomAD v4
9g.135786511C=CA1883888548KCNT1c.3492C= (p.Thr1164=)
c.3333C= (p.Thr1111=)
c.3240C= (p.Thr1080=)
c.3249C= (p.Thr1083=)
c.3393C= (p.Thr1131=)
c.*3102C= (n.*3102C=)
c.3375C= (p.Thr1125=)
c.3414C= (p.Thr1138=)
c.3429C= (p.Thr1143=)
c.3435C= (p.Thr1145=)
c.3357C= (p.Thr1119=)
c.3327C= (p.Thr1109=)
c.3627C= (p.Thr1209=)
c.3636C= (p.Thr1212=)
c.2982C= (p.Thr994=)
c.3426C= (p.Thr1142=)
9g.135786511C>GCA467699274KCNT1c.3492C>G (p.Thr1164=)
c.3333C>G (p.Thr1111=)
c.3240C>G (p.Thr1080=)
c.3249C>G (p.Thr1083=)
c.3393C>G (p.Thr1131=)
c.*3102C>G (n.*3102C>G)
c.3375C>G (p.Thr1125=)
c.3414C>G (p.Thr1138=)
c.3429C>G (p.Thr1143=)
c.3435C>G (p.Thr1145=)
c.3357C>G (p.Thr1119=)
c.3327C>G (p.Thr1109=)
c.3627C>G (p.Thr1209=)
c.3636C>G (p.Thr1212=)
c.2982C>G (p.Thr994=)
c.3426C>G (p.Thr1142=)
9g.135786511C>TCA467699273KCNT1c.3492C>T (p.Thr1164=)
c.3333C>T (p.Thr1111=)
c.3240C>T (p.Thr1080=)
c.3249C>T (p.Thr1083=)
c.3393C>T (p.Thr1131=)
c.*3102C>T (n.*3102C>T)
c.3375C>T (p.Thr1125=)
c.3414C>T (p.Thr1138=)
c.3429C>T (p.Thr1143=)
c.3435C>T (p.Thr1145=)
c.3357C>T (p.Thr1119=)
c.3327C>T (p.Thr1109=)
c.3627C>T (p.Thr1209=)
c.3636C>T (p.Thr1212=)
c.2982C>T (p.Thr994=)
c.3426C>T (p.Thr1142=)
 dbSNP
9g.135786512A=CA1883888555KCNT1c.3493A= (p.Thr1165=)
c.3334A= (p.Thr1112=)
c.3241A= (p.Thr1081=)
c.3250A= (p.Thr1084=)
c.3394A= (p.Thr1132=)
c.*3103A= (n.*3103A=)
c.3376A= (p.Thr1126=)
c.3415A= (p.Thr1139=)
c.3430A= (p.Thr1144=)
c.3436A= (p.Thr1146=)
c.3358A= (p.Thr1120=)
c.3328A= (p.Thr1110=)
c.3628A= (p.Thr1210=)
c.3637A= (p.Thr1213=)
c.2983A= (p.Thr995=)
c.3427A= (p.Thr1143=)
9g.135786512A>CCA375492458KCNT1c.3493A>C (p.Thr1165Pro)
c.3334A>C (p.Thr1112Pro)
c.3241A>C (p.Thr1081Pro)
c.3250A>C (p.Thr1084Pro)
c.3394A>C (p.Thr1132Pro)
c.*3103A>C (n.*3103A>C)
c.3376A>C (p.Thr1126Pro)
c.3415A>C (p.Thr1139Pro)
c.3430A>C (p.Thr1144Pro)
c.3436A>C (p.Thr1146Pro)
c.3358A>C (p.Thr1120Pro)
c.3328A>C (p.Thr1110Pro)
c.3628A>C (p.Thr1210Pro)
c.3637A>C (p.Thr1213Pro)
c.2983A>C (p.Thr995Pro)
c.3427A>C (p.Thr1143Pro)
9g.135786512A>GCA5327828KCNT1c.3493A>G (p.Thr1165Ala)
c.3334A>G (p.Thr1112Ala)
c.3241A>G (p.Thr1081Ala)
c.3250A>G (p.Thr1084Ala)
c.3394A>G (p.Thr1132Ala)
c.*3103A>G (n.*3103A>G)
c.3376A>G (p.Thr1126Ala)
c.3415A>G (p.Thr1139Ala)
c.3430A>G (p.Thr1144Ala)
c.3436A>G (p.Thr1146Ala)
c.3358A>G (p.Thr1120Ala)
c.3328A>G (p.Thr1110Ala)
c.3628A>G (p.Thr1210Ala)
c.3637A>G (p.Thr1213Ala)
c.2983A>G (p.Thr995Ala)
c.3427A>G (p.Thr1143Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786512A>TCA375492459KCNT1c.3493A>T (p.Thr1165Ser)
c.3334A>T (p.Thr1112Ser)
c.3241A>T (p.Thr1081Ser)
c.3250A>T (p.Thr1084Ser)
c.3394A>T (p.Thr1132Ser)
c.*3103A>T (n.*3103A>T)
c.3376A>T (p.Thr1126Ser)
c.3415A>T (p.Thr1139Ser)
c.3430A>T (p.Thr1144Ser)
c.3436A>T (p.Thr1146Ser)
c.3358A>T (p.Thr1120Ser)
c.3328A>T (p.Thr1110Ser)
c.3628A>T (p.Thr1210Ser)
c.3637A>T (p.Thr1213Ser)
c.2983A>T (p.Thr995Ser)
c.3427A>T (p.Thr1143Ser)
9g.135786513C>ACA375492460KCNT1c.3494C>A (p.Thr1165Asn)
c.3335C>A (p.Thr1112Asn)
c.3242C>A (p.Thr1081Asn)
c.3251C>A (p.Thr1084Asn)
c.3395C>A (p.Thr1132Asn)
c.*3104C>A (n.*3104C>A)
c.3377C>A (p.Thr1126Asn)
c.3416C>A (p.Thr1139Asn)
c.3431C>A (p.Thr1144Asn)
c.3437C>A (p.Thr1146Asn)
c.3359C>A (p.Thr1120Asn)
c.3329C>A (p.Thr1110Asn)
c.3629C>A (p.Thr1210Asn)
c.3638C>A (p.Thr1213Asn)
c.2984C>A (p.Thr995Asn)
c.3428C>A (p.Thr1143Asn)
 gnomAD v4
9g.135786513C=CA1883888562KCNT1c.3494C= (p.Thr1165=)
c.3335C= (p.Thr1112=)
c.3242C= (p.Thr1081=)
c.3251C= (p.Thr1084=)
c.3395C= (p.Thr1132=)
c.*3104C= (n.*3104C=)
c.3377C= (p.Thr1126=)
c.3416C= (p.Thr1139=)
c.3431C= (p.Thr1144=)
c.3437C= (p.Thr1146=)
c.3359C= (p.Thr1120=)
c.3329C= (p.Thr1110=)
c.3629C= (p.Thr1210=)
c.3638C= (p.Thr1213=)
c.2984C= (p.Thr995=)
c.3428C= (p.Thr1143=)
9g.135786513C>GCA5327829KCNT1c.3494C>G (p.Thr1165Ser)
c.3335C>G (p.Thr1112Ser)
c.3242C>G (p.Thr1081Ser)
c.3251C>G (p.Thr1084Ser)
c.3395C>G (p.Thr1132Ser)
c.*3104C>G (n.*3104C>G)
c.3377C>G (p.Thr1126Ser)
c.3416C>G (p.Thr1139Ser)
c.3431C>G (p.Thr1144Ser)
c.3437C>G (p.Thr1146Ser)
c.3359C>G (p.Thr1120Ser)
c.3329C>G (p.Thr1110Ser)
c.3629C>G (p.Thr1210Ser)
c.3638C>G (p.Thr1213Ser)
c.2984C>G (p.Thr995Ser)
c.3428C>G (p.Thr1143Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135786513C>TCA201424478KCNT1c.3494C>T (p.Thr1165Ile)
c.3335C>T (p.Thr1112Ile)
c.3242C>T (p.Thr1081Ile)
c.3251C>T (p.Thr1084Ile)
c.3395C>T (p.Thr1132Ile)
c.*3104C>T (n.*3104C>T)
c.3377C>T (p.Thr1126Ile)
c.3416C>T (p.Thr1139Ile)
c.3431C>T (p.Thr1144Ile)
c.3437C>T (p.Thr1146Ile)
c.3359C>T (p.Thr1120Ile)
c.3329C>T (p.Thr1110Ile)
c.3629C>T (p.Thr1210Ile)
c.3638C>T (p.Thr1213Ile)
c.2984C>T (p.Thr995Ile)
c.3428C>T (p.Thr1143Ile)
 ClinVar dbSNP gnomAD v4
9g.135786514C>ACA16606435KCNT1c.3495C>A (p.Thr1165=)
c.3336C>A (p.Thr1112=)
c.3243C>A (p.Thr1081=)
c.3252C>A (p.Thr1084=)
c.3396C>A (p.Thr1132=)
c.*3105C>A (n.*3105C>A)
c.3378C>A (p.Thr1126=)
c.3417C>A (p.Thr1139=)
c.3432C>A (p.Thr1144=)
c.3438C>A (p.Thr1146=)
c.3360C>A (p.Thr1120=)
c.3330C>A (p.Thr1110=)
c.3630C>A (p.Thr1210=)
c.3639C>A (p.Thr1213=)
c.2985C>A (p.Thr995=)
c.3429C>A (p.Thr1143=)
 ClinVar dbSNP gnomAD v4
9g.135786514C=CA1883888571KCNT1c.3495C= (p.Thr1165=)
c.3336C= (p.Thr1112=)
c.3243C= (p.Thr1081=)
c.3252C= (p.Thr1084=)
c.3396C= (p.Thr1132=)
c.*3105C= (n.*3105C=)
c.3378C= (p.Thr1126=)
c.3417C= (p.Thr1139=)
c.3432C= (p.Thr1144=)
c.3438C= (p.Thr1146=)
c.3360C= (p.Thr1120=)
c.3330C= (p.Thr1110=)
c.3630C= (p.Thr1210=)
c.3639C= (p.Thr1213=)
c.2985C= (p.Thr995=)
c.3429C= (p.Thr1143=)
9g.135786514C>GCA467699275KCNT1c.3495C>G (p.Thr1165=)
c.3336C>G (p.Thr1112=)
c.3243C>G (p.Thr1081=)
c.3252C>G (p.Thr1084=)
c.3396C>G (p.Thr1132=)
c.*3105C>G (n.*3105C>G)
c.3378C>G (p.Thr1126=)
c.3417C>G (p.Thr1139=)
c.3432C>G (p.Thr1144=)
c.3438C>G (p.Thr1146=)
c.3360C>G (p.Thr1120=)
c.3330C>G (p.Thr1110=)
c.3630C>G (p.Thr1210=)
c.3639C>G (p.Thr1213=)
c.2985C>G (p.Thr995=)
c.3429C>G (p.Thr1143=)
9g.135786514C>TCA5327830KCNT1c.3495C>T (p.Thr1165=)
c.3336C>T (p.Thr1112=)
c.3243C>T (p.Thr1081=)
c.3252C>T (p.Thr1084=)
c.3396C>T (p.Thr1132=)
c.*3105C>T (n.*3105C>T)
c.3378C>T (p.Thr1126=)
c.3417C>T (p.Thr1139=)
c.3432C>T (p.Thr1144=)
c.3438C>T (p.Thr1146=)
c.3360C>T (p.Thr1120=)
c.3330C>T (p.Thr1110=)
c.3630C>T (p.Thr1210=)
c.3639C>T (p.Thr1213=)
c.2985C>T (p.Thr995=)
c.3429C>T (p.Thr1143=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786515G>ACA375492461KCNT1c.3496G>A (p.Gly1166Ser)
c.3337G>A (p.Gly1113Ser)
c.3244G>A (p.Gly1082Ser)
c.3253G>A (p.Gly1085Ser)
c.3397G>A (p.Gly1133Ser)
c.*3106G>A (n.*3106G>A)
c.3379G>A (p.Gly1127Ser)
c.3418G>A (p.Gly1140Ser)
c.3433G>A (p.Gly1145Ser)
c.3439G>A (p.Gly1147Ser)
c.3361G>A (p.Gly1121Ser)
c.3331G>A (p.Gly1111Ser)
c.3631G>A (p.Gly1211Ser)
c.3640G>A (p.Gly1214Ser)
c.2986G>A (p.Gly996Ser)
c.3430G>A (p.Gly1144Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135786515G>CCA375492462KCNT1c.3496G>C (p.Gly1166Arg)
c.3337G>C (p.Gly1113Arg)
c.3244G>C (p.Gly1082Arg)
c.3253G>C (p.Gly1085Arg)
c.3397G>C (p.Gly1133Arg)
c.*3106G>C (n.*3106G>C)
c.3379G>C (p.Gly1127Arg)
c.3418G>C (p.Gly1140Arg)
c.3433G>C (p.Gly1145Arg)
c.3439G>C (p.Gly1147Arg)
c.3361G>C (p.Gly1121Arg)
c.3331G>C (p.Gly1111Arg)
c.3631G>C (p.Gly1211Arg)
c.3640G>C (p.Gly1214Arg)
c.2986G>C (p.Gly996Arg)
c.3430G>C (p.Gly1144Arg)
9g.135786515G=CA1883888581KCNT1c.3496G= (p.Gly1166=)
c.3337G= (p.Gly1113=)
c.3244G= (p.Gly1082=)
c.3253G= (p.Gly1085=)
c.3397G= (p.Gly1133=)
c.*3106G= (n.*3106G=)
c.3379G= (p.Gly1127=)
c.3418G= (p.Gly1140=)
c.3433G= (p.Gly1145=)
c.3439G= (p.Gly1147=)
c.3361G= (p.Gly1121=)
c.3331G= (p.Gly1111=)
c.3631G= (p.Gly1211=)
c.3640G= (p.Gly1214=)
c.2986G= (p.Gly996=)
c.3430G= (p.Gly1144=)
9g.135786515G>TCA375492463KCNT1c.3496G>T (p.Gly1166Cys)
c.3337G>T (p.Gly1113Cys)
c.3244G>T (p.Gly1082Cys)
c.3253G>T (p.Gly1085Cys)
c.3397G>T (p.Gly1133Cys)
c.*3106G>T (n.*3106G>T)
c.3379G>T (p.Gly1127Cys)
c.3418G>T (p.Gly1140Cys)
c.3433G>T (p.Gly1145Cys)
c.3439G>T (p.Gly1147Cys)
c.3361G>T (p.Gly1121Cys)
c.3331G>T (p.Gly1111Cys)
c.3631G>T (p.Gly1211Cys)
c.3640G>T (p.Gly1214Cys)
c.2986G>T (p.Gly996Cys)
c.3430G>T (p.Gly1144Cys)
 gnomAD v4
9g.135786517_135786527delCA2579510985KCNT1c.3498_3502+6del
c.3339_3343+6del
c.3246_3250+6del
c.3255_3259+6del
c.3399_3403+6del
c.*3108_*3112+6del
c.3381_3385+6del
c.3420_3424+6del
c.3435_3439+6del
c.3441_3445+6del
c.3363_3367+6del
c.3333_3337+6del
c.3633_3637+6del
c.3642_3646+6del
c.2988_2992+6del
c.3432_3436+6del
9g.135786517_135786544dupCA591143793KCNT1c.3498_3502+23dup
c.3339_3343+23dup
c.3246_3250+23dup
c.3255_3259+23dup
c.3399_3403+23dup
c.*3108_*3112+23dup
c.3381_3385+23dup
c.3420_3424+23dup
c.3435_3439+23dup
c.3441_3445+23dup
c.3363_3367+23dup
c.3333_3337+23dup
c.3633_3637+23dup
c.3642_3646+23dup
c.2988_2992+23dup
c.3432_3436+23dup
 dbSNP gnomAD v2 gnomAD v4
9g.135786516G>ACA375492464KCNT1c.3497G>A (p.Gly1166Asp)
c.3338G>A (p.Gly1113Asp)
c.3245G>A (p.Gly1082Asp)
c.3254G>A (p.Gly1085Asp)
c.3398G>A (p.Gly1133Asp)
c.*3107G>A (n.*3107G>A)
c.3380G>A (p.Gly1127Asp)
c.3419G>A (p.Gly1140Asp)
c.3434G>A (p.Gly1145Asp)
c.3440G>A (p.Gly1147Asp)
c.3362G>A (p.Gly1121Asp)
c.3332G>A (p.Gly1111Asp)
c.3632G>A (p.Gly1211Asp)
c.3641G>A (p.Gly1214Asp)
c.2987G>A (p.Gly996Asp)
c.3431G>A (p.Gly1144Asp)
 gnomAD v4
9g.135786516G>CCA375492465KCNT1c.3497G>C (p.Gly1166Ala)
c.3338G>C (p.Gly1113Ala)
c.3245G>C (p.Gly1082Ala)
c.3254G>C (p.Gly1085Ala)
c.3398G>C (p.Gly1133Ala)
c.*3107G>C (n.*3107G>C)
c.3380G>C (p.Gly1127Ala)
c.3419G>C (p.Gly1140Ala)
c.3434G>C (p.Gly1145Ala)
c.3440G>C (p.Gly1147Ala)
c.3362G>C (p.Gly1121Ala)
c.3332G>C (p.Gly1111Ala)
c.3632G>C (p.Gly1211Ala)
c.3641G>C (p.Gly1214Ala)
c.2987G>C (p.Gly996Ala)
c.3431G>C (p.Gly1144Ala)
9g.135786516G>TCA375492466KCNT1c.3497G>T (p.Gly1166Val)
c.3338G>T (p.Gly1113Val)
c.3245G>T (p.Gly1082Val)
c.3254G>T (p.Gly1085Val)
c.3398G>T (p.Gly1133Val)
c.*3107G>T (n.*3107G>T)
c.3380G>T (p.Gly1127Val)
c.3419G>T (p.Gly1140Val)
c.3434G>T (p.Gly1145Val)
c.3440G>T (p.Gly1147Val)
c.3362G>T (p.Gly1121Val)
c.3332G>T (p.Gly1111Val)
c.3632G>T (p.Gly1211Val)
c.3641G>T (p.Gly1214Val)
c.2987G>T (p.Gly996Val)
c.3431G>T (p.Gly1144Val)
 gnomAD v4
9g.135786517C>ACA467699276KCNT1c.3498C>A (p.Gly1166=)
c.3339C>A (p.Gly1113=)
c.3246C>A (p.Gly1082=)
c.3255C>A (p.Gly1085=)
c.3399C>A (p.Gly1133=)
c.*3108C>A (n.*3108C>A)
c.3381C>A (p.Gly1127=)
c.3420C>A (p.Gly1140=)
c.3435C>A (p.Gly1145=)
c.3441C>A (p.Gly1147=)
c.3363C>A (p.Gly1121=)
c.3333C>A (p.Gly1111=)
c.3633C>A (p.Gly1211=)
c.3642C>A (p.Gly1214=)
c.2988C>A (p.Gly996=)
c.3432C>A (p.Gly1144=)
 gnomAD v4
9g.135786517C>GCA467699277KCNT1c.3498C>G (p.Gly1166=)
c.3339C>G (p.Gly1113=)
c.3246C>G (p.Gly1082=)
c.3255C>G (p.Gly1085=)
c.3399C>G (p.Gly1133=)
c.*3108C>G (n.*3108C>G)
c.3381C>G (p.Gly1127=)
c.3420C>G (p.Gly1140=)
c.3435C>G (p.Gly1145=)
c.3441C>G (p.Gly1147=)
c.3363C>G (p.Gly1121=)
c.3333C>G (p.Gly1111=)
c.3633C>G (p.Gly1211=)
c.3642C>G (p.Gly1214=)
c.2988C>G (p.Gly996=)
c.3432C>G (p.Gly1144=)
9g.135786517C>TCA467699278KCNT1c.3498C>T (p.Gly1166=)
c.3339C>T (p.Gly1113=)
c.3246C>T (p.Gly1082=)
c.3255C>T (p.Gly1085=)
c.3399C>T (p.Gly1133=)
c.*3108C>T (n.*3108C>T)
c.3381C>T (p.Gly1127=)
c.3420C>T (p.Gly1140=)
c.3435C>T (p.Gly1145=)
c.3441C>T (p.Gly1147=)
c.3363C>T (p.Gly1121=)
c.3333C>T (p.Gly1111=)
c.3633C>T (p.Gly1211=)
c.3642C>T (p.Gly1214=)
c.2988C>T (p.Gly996=)
c.3432C>T (p.Gly1144=)
 gnomAD v4
9g.135786518T>ACA375492467KCNT1c.3499T>A (p.Tyr1167Asn)
c.3340T>A (p.Tyr1114Asn)
c.3247T>A (p.Tyr1083Asn)
c.3256T>A (p.Tyr1086Asn)
c.3400T>A (p.Tyr1134Asn)
c.*3109T>A (n.*3109T>A)
c.3382T>A (p.Tyr1128Asn)
c.3421T>A (p.Tyr1141Asn)
c.3436T>A (p.Tyr1146Asn)
c.3442T>A (p.Tyr1148Asn)
c.3364T>A (p.Tyr1122Asn)
c.3334T>A (p.Tyr1112Asn)
c.3634T>A (p.Tyr1212Asn)
c.3643T>A (p.Tyr1215Asn)
c.2989T>A (p.Tyr997Asn)
c.3433T>A (p.Tyr1145Asn)
9g.135786518T>CCA375492468KCNT1c.3499T>C (p.Tyr1167His)
c.3340T>C (p.Tyr1114His)
c.3247T>C (p.Tyr1083His)
c.3256T>C (p.Tyr1086His)
c.3400T>C (p.Tyr1134His)
c.*3109T>C (n.*3109T>C)
c.3382T>C (p.Tyr1128His)
c.3421T>C (p.Tyr1141His)
c.3436T>C (p.Tyr1146His)
c.3442T>C (p.Tyr1148His)
c.3364T>C (p.Tyr1122His)
c.3334T>C (p.Tyr1112His)
c.3634T>C (p.Tyr1212His)
c.3643T>C (p.Tyr1215His)
c.2989T>C (p.Tyr997His)
c.3433T>C (p.Tyr1145His)
9g.135786518T>GCA375492469KCNT1c.3499T>G (p.Tyr1167Asp)
c.3340T>G (p.Tyr1114Asp)
c.3247T>G (p.Tyr1083Asp)
c.3256T>G (p.Tyr1086Asp)
c.3400T>G (p.Tyr1134Asp)
c.*3109T>G (n.*3109T>G)
c.3382T>G (p.Tyr1128Asp)
c.3421T>G (p.Tyr1141Asp)
c.3436T>G (p.Tyr1146Asp)
c.3442T>G (p.Tyr1148Asp)
c.3364T>G (p.Tyr1122Asp)
c.3334T>G (p.Tyr1112Asp)
c.3634T>G (p.Tyr1212Asp)
c.3643T>G (p.Tyr1215Asp)
c.2989T>G (p.Tyr997Asp)
c.3433T>G (p.Tyr1145Asp)
9g.135786519A=CA1883888586KCNT1c.3500A= (p.Tyr1167=)
c.3341A= (p.Tyr1114=)
c.3248A= (p.Tyr1083=)
c.3257A= (p.Tyr1086=)
c.3401A= (p.Tyr1134=)
c.*3110A= (n.*3110A=)
c.3383A= (p.Tyr1128=)
c.3422A= (p.Tyr1141=)
c.3437A= (p.Tyr1146=)
c.3443A= (p.Tyr1148=)
c.3365A= (p.Tyr1122=)
c.3335A= (p.Tyr1112=)
c.3635A= (p.Tyr1212=)
c.3644A= (p.Tyr1215=)
c.2990A= (p.Tyr997=)
c.3434A= (p.Tyr1145=)
9g.135786519A>CCA375492471KCNT1c.3500A>C (p.Tyr1167Ser)
c.3341A>C (p.Tyr1114Ser)
c.3248A>C (p.Tyr1083Ser)
c.3257A>C (p.Tyr1086Ser)
c.3401A>C (p.Tyr1134Ser)
c.*3110A>C (n.*3110A>C)
c.3383A>C (p.Tyr1128Ser)
c.3422A>C (p.Tyr1141Ser)
c.3437A>C (p.Tyr1146Ser)
c.3443A>C (p.Tyr1148Ser)
c.3365A>C (p.Tyr1122Ser)
c.3335A>C (p.Tyr1112Ser)
c.3635A>C (p.Tyr1212Ser)
c.3644A>C (p.Tyr1215Ser)
c.2990A>C (p.Tyr997Ser)
c.3434A>C (p.Tyr1145Ser)
9g.135786519A>GCA201424498KCNT1c.3500A>G (p.Tyr1167Cys)
c.3341A>G (p.Tyr1114Cys)
c.3248A>G (p.Tyr1083Cys)
c.3257A>G (p.Tyr1086Cys)
c.3401A>G (p.Tyr1134Cys)
c.*3110A>G (n.*3110A>G)
c.3383A>G (p.Tyr1128Cys)
c.3422A>G (p.Tyr1141Cys)
c.3437A>G (p.Tyr1146Cys)
c.3443A>G (p.Tyr1148Cys)
c.3365A>G (p.Tyr1122Cys)
c.3335A>G (p.Tyr1112Cys)
c.3635A>G (p.Tyr1212Cys)
c.3644A>G (p.Tyr1215Cys)
c.2990A>G (p.Tyr997Cys)
c.3434A>G (p.Tyr1145Cys)
 dbSNP
9g.135786519A>TCA375492470KCNT1c.3500A>T (p.Tyr1167Phe)
c.3341A>T (p.Tyr1114Phe)
c.3248A>T (p.Tyr1083Phe)
c.3257A>T (p.Tyr1086Phe)
c.3401A>T (p.Tyr1134Phe)
c.*3110A>T (n.*3110A>T)
c.3383A>T (p.Tyr1128Phe)
c.3422A>T (p.Tyr1141Phe)
c.3437A>T (p.Tyr1146Phe)
c.3443A>T (p.Tyr1148Phe)
c.3365A>T (p.Tyr1122Phe)
c.3335A>T (p.Tyr1112Phe)
c.3635A>T (p.Tyr1212Phe)
c.3644A>T (p.Tyr1215Phe)
c.2990A>T (p.Tyr997Phe)
c.3434A>T (p.Tyr1145Phe)

Number of alleles fetched