Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.135786127_135786232delCA2692524830KCNT1c.3178-70_3213del
c.3019-70_3054del
c.2926-70_2961del
c.2935-70_2970del
c.3079-70_3114del
c.*2788-70_*2823del
c.3061-70_3096del
c.3100-70_3135del
c.3115-70_3150del
n.3793_3898del
c.3121-70_3156del
c.3043-70_3078del
c.3013-70_3048del
c.3313-70_3348del
c.3322-70_3357del
c.2668-70_2703del
c.3112-70_3147del
 gnomAD v4
9g.135786203_135786229dupCA2580080080KCNT1c.3184_3210dup (p.Glu1070_Asp1071insIleSerValAsnValGluAspCysGlu)
c.3025_3051dup (p.Glu1017_Asp1018insIleSerValAsnValGluAspCysGlu)
c.2932_2958dup (p.Glu986_Asp987insIleSerValAsnValGluAspCysGlu)
c.2941_2967dup (p.Glu989_Asp990insIleSerValAsnValGluAspCysGlu)
c.3085_3111dup (p.Glu1037_Asp1038insIleSerValAsnValGluAspCysGlu)
c.*2794_*2820dup (n.*2794_*2820dup)
c.3067_3093dup (p.Glu1031_Asp1032insIleSerValAsnValGluAspCysGlu)
c.3106_3132dup (p.Glu1044_Asp1045insIleSerValAsnValGluAspCysGlu)
c.3121_3147dup (p.Glu1049_Asp1050insIleSerValAsnValGluAspCysGlu)
n.3869_3895dup
c.3127_3153dup (p.Glu1051_Asp1052insIleSerValAsnValGluAspCysGlu)
c.3049_3075dup (p.Glu1025_Asp1026insIleSerValAsnValGluAspCysGlu)
c.3019_3045dup (p.Glu1015_Asp1016insIleSerValAsnValGluAspCysGlu)
c.3319_3345dup (p.Glu1115_Asp1116insIleSerValAsnValGluAspCysGlu)
c.3328_3354dup (p.Glu1118_Asp1119insIleSerValAsnValGluAspCysGlu)
c.2674_2700dup (p.Glu900_Asp901insIleSerValAsnValGluAspCysGlu)
c.3118_3144dup (p.Glu1048_Asp1049insIleSerValAsnValGluAspCysGlu)
 ClinVar
9g.135786209G>ACA375491458KCNT1c.3190G>A (p.Val1064Met)
c.3031G>A (p.Val1011Met)
c.2938G>A (p.Val980Met)
c.2947G>A (p.Val983Met)
c.3091G>A (p.Val1031Met)
c.*2800G>A (n.*2800G>A)
c.3073G>A (p.Val1025Met)
c.3112G>A (p.Val1038Met)
c.3127G>A (p.Val1043Met)
n.3875G>A
c.3133G>A (p.Val1045Met)
c.3055G>A (p.Val1019Met)
c.3025G>A (p.Val1009Met)
c.3325G>A (p.Val1109Met)
c.3334G>A (p.Val1112Met)
c.2680G>A (p.Val894Met)
c.3124G>A (p.Val1042Met)
9g.135786209G>CCA375491456KCNT1c.3190G>C (p.Val1064Leu)
c.3031G>C (p.Val1011Leu)
c.2938G>C (p.Val980Leu)
c.2947G>C (p.Val983Leu)
c.3091G>C (p.Val1031Leu)
c.*2800G>C (n.*2800G>C)
c.3073G>C (p.Val1025Leu)
c.3112G>C (p.Val1038Leu)
c.3127G>C (p.Val1043Leu)
n.3875G>C
c.3133G>C (p.Val1045Leu)
c.3055G>C (p.Val1019Leu)
c.3025G>C (p.Val1009Leu)
c.3325G>C (p.Val1109Leu)
c.3334G>C (p.Val1112Leu)
c.2680G>C (p.Val894Leu)
c.3124G>C (p.Val1042Leu)
9g.135786209G>TCA375491457KCNT1c.3190G>T (p.Val1064Leu)
c.3031G>T (p.Val1011Leu)
c.2938G>T (p.Val980Leu)
c.2947G>T (p.Val983Leu)
c.3091G>T (p.Val1031Leu)
c.*2800G>T (n.*2800G>T)
c.3073G>T (p.Val1025Leu)
c.3112G>T (p.Val1038Leu)
c.3127G>T (p.Val1043Leu)
n.3875G>T
c.3133G>T (p.Val1045Leu)
c.3055G>T (p.Val1019Leu)
c.3025G>T (p.Val1009Leu)
c.3325G>T (p.Val1109Leu)
c.3334G>T (p.Val1112Leu)
c.2680G>T (p.Val894Leu)
c.3124G>T (p.Val1042Leu)
9g.135786210T>ACA375491459KCNT1c.3191T>A (p.Val1064Glu)
c.3032T>A (p.Val1011Glu)
c.2939T>A (p.Val980Glu)
c.2948T>A (p.Val983Glu)
c.3092T>A (p.Val1031Glu)
c.*2801T>A (n.*2801T>A)
c.3074T>A (p.Val1025Glu)
c.3113T>A (p.Val1038Glu)
c.3128T>A (p.Val1043Glu)
n.3876T>A
c.3134T>A (p.Val1045Glu)
c.3056T>A (p.Val1019Glu)
c.3026T>A (p.Val1009Glu)
c.3326T>A (p.Val1109Glu)
c.3335T>A (p.Val1112Glu)
c.2681T>A (p.Val894Glu)
c.3125T>A (p.Val1042Glu)
9g.135786210T>CCA375491460KCNT1c.3191T>C (p.Val1064Ala)
c.3032T>C (p.Val1011Ala)
c.2939T>C (p.Val980Ala)
c.2948T>C (p.Val983Ala)
c.3092T>C (p.Val1031Ala)
c.*2801T>C (n.*2801T>C)
c.3074T>C (p.Val1025Ala)
c.3113T>C (p.Val1038Ala)
c.3128T>C (p.Val1043Ala)
n.3876T>C
c.3134T>C (p.Val1045Ala)
c.3056T>C (p.Val1019Ala)
c.3026T>C (p.Val1009Ala)
c.3326T>C (p.Val1109Ala)
c.3335T>C (p.Val1112Ala)
c.2681T>C (p.Val894Ala)
c.3125T>C (p.Val1042Ala)
9g.135786210T>GCA375491461KCNT1c.3191T>G (p.Val1064Gly)
c.3032T>G (p.Val1011Gly)
c.2939T>G (p.Val980Gly)
c.2948T>G (p.Val983Gly)
c.3092T>G (p.Val1031Gly)
c.*2801T>G (n.*2801T>G)
c.3074T>G (p.Val1025Gly)
c.3113T>G (p.Val1038Gly)
c.3128T>G (p.Val1043Gly)
n.3876T>G
c.3134T>G (p.Val1045Gly)
c.3056T>G (p.Val1019Gly)
c.3026T>G (p.Val1009Gly)
c.3326T>G (p.Val1109Gly)
c.3335T>G (p.Val1112Gly)
c.2681T>G (p.Val894Gly)
c.3125T>G (p.Val1042Gly)
9g.135786211G>ACA467820972KCNT1c.3192G>A (p.Val1064=)
c.3033G>A (p.Val1011=)
c.2940G>A (p.Val980=)
c.2949G>A (p.Val983=)
c.3093G>A (p.Val1031=)
c.*2802G>A (n.*2802G>A)
c.3075G>A (p.Val1025=)
c.3114G>A (p.Val1038=)
c.3129G>A (p.Val1043=)
n.3877G>A
c.3135G>A (p.Val1045=)
c.3057G>A (p.Val1019=)
c.3027G>A (p.Val1009=)
c.3327G>A (p.Val1109=)
c.3336G>A (p.Val1112=)
c.2682G>A (p.Val894=)
c.3126G>A (p.Val1042=)
9g.135786211G>CCA467820973KCNT1c.3192G>C (p.Val1064=)
c.3033G>C (p.Val1011=)
c.2940G>C (p.Val980=)
c.2949G>C (p.Val983=)
c.3093G>C (p.Val1031=)
c.*2802G>C (n.*2802G>C)
c.3075G>C (p.Val1025=)
c.3114G>C (p.Val1038=)
c.3129G>C (p.Val1043=)
n.3877G>C
c.3135G>C (p.Val1045=)
c.3057G>C (p.Val1019=)
c.3027G>C (p.Val1009=)
c.3327G>C (p.Val1109=)
c.3336G>C (p.Val1112=)
c.2682G>C (p.Val894=)
c.3126G>C (p.Val1042=)
9g.135786211G>TCA467820974KCNT1c.3192G>T (p.Val1064=)
c.3033G>T (p.Val1011=)
c.2940G>T (p.Val980=)
c.2949G>T (p.Val983=)
c.3093G>T (p.Val1031=)
c.*2802G>T (n.*2802G>T)
c.3075G>T (p.Val1025=)
c.3114G>T (p.Val1038=)
c.3129G>T (p.Val1043=)
n.3877G>T
c.3135G>T (p.Val1045=)
c.3057G>T (p.Val1019=)
c.3027G>T (p.Val1009=)
c.3327G>T (p.Val1109=)
c.3336G>T (p.Val1112=)
c.2682G>T (p.Val894=)
c.3126G>T (p.Val1042=)
9g.135786212A=CA1883887408KCNT1c.3193A= (p.Asn1065=)
c.3034A= (p.Asn1012=)
c.2941A= (p.Asn981=)
c.2950A= (p.Asn984=)
c.3094A= (p.Asn1032=)
c.*2803A= (n.*2803A=)
c.3076A= (p.Asn1026=)
c.3115A= (p.Asn1039=)
c.3130A= (p.Asn1044=)
n.3878A=
c.3136A= (p.Asn1046=)
c.3058A= (p.Asn1020=)
c.3028A= (p.Asn1010=)
c.3328A= (p.Asn1110=)
c.3337A= (p.Asn1113=)
c.2683A= (p.Asn895=)
c.3127A= (p.Asn1043=)
9g.135786212A>CCA375491462KCNT1c.3193A>C (p.Asn1065His)
c.3034A>C (p.Asn1012His)
c.2941A>C (p.Asn981His)
c.2950A>C (p.Asn984His)
c.3094A>C (p.Asn1032His)
c.*2803A>C (n.*2803A>C)
c.3076A>C (p.Asn1026His)
c.3115A>C (p.Asn1039His)
c.3130A>C (p.Asn1044His)
n.3878A>C
c.3136A>C (p.Asn1046His)
c.3058A>C (p.Asn1020His)
c.3028A>C (p.Asn1010His)
c.3328A>C (p.Asn1110His)
c.3337A>C (p.Asn1113His)
c.2683A>C (p.Asn895His)
c.3127A>C (p.Asn1043His)
9g.135786212A>GCA375491463KCNT1c.3193A>G (p.Asn1065Asp)
c.3034A>G (p.Asn1012Asp)
c.2941A>G (p.Asn981Asp)
c.2950A>G (p.Asn984Asp)
c.3094A>G (p.Asn1032Asp)
c.*2803A>G (n.*2803A>G)
c.3076A>G (p.Asn1026Asp)
c.3115A>G (p.Asn1039Asp)
c.3130A>G (p.Asn1044Asp)
n.3878A>G
c.3136A>G (p.Asn1046Asp)
c.3058A>G (p.Asn1020Asp)
c.3028A>G (p.Asn1010Asp)
c.3328A>G (p.Asn1110Asp)
c.3337A>G (p.Asn1113Asp)
c.2683A>G (p.Asn895Asp)
c.3127A>G (p.Asn1043Asp)
 dbSNP gnomAD v2 gnomAD v4
9g.135786212A>TCA375491464KCNT1c.3193A>T (p.Asn1065Tyr)
c.3034A>T (p.Asn1012Tyr)
c.2941A>T (p.Asn981Tyr)
c.2950A>T (p.Asn984Tyr)
c.3094A>T (p.Asn1032Tyr)
c.*2803A>T (n.*2803A>T)
c.3076A>T (p.Asn1026Tyr)
c.3115A>T (p.Asn1039Tyr)
c.3130A>T (p.Asn1044Tyr)
n.3878A>T
c.3136A>T (p.Asn1046Tyr)
c.3058A>T (p.Asn1020Tyr)
c.3028A>T (p.Asn1010Tyr)
c.3328A>T (p.Asn1110Tyr)
c.3337A>T (p.Asn1113Tyr)
c.2683A>T (p.Asn895Tyr)
c.3127A>T (p.Asn1043Tyr)
 gnomAD v4
9g.135786213A=CA1883887411KCNT1c.3194A= (p.Asn1065=)
c.3035A= (p.Asn1012=)
c.2942A= (p.Asn981=)
c.2951A= (p.Asn984=)
c.3095A= (p.Asn1032=)
c.*2804A= (n.*2804A=)
c.3077A= (p.Asn1026=)
c.3116A= (p.Asn1039=)
c.3131A= (p.Asn1044=)
n.3879A=
c.3137A= (p.Asn1046=)
c.3059A= (p.Asn1020=)
c.3029A= (p.Asn1010=)
c.3329A= (p.Asn1110=)
c.3338A= (p.Asn1113=)
c.2684A= (p.Asn895=)
c.3128A= (p.Asn1043=)
9g.135786213A>CCA375491465KCNT1c.3194A>C (p.Asn1065Thr)
c.3035A>C (p.Asn1012Thr)
c.2942A>C (p.Asn981Thr)
c.2951A>C (p.Asn984Thr)
c.3095A>C (p.Asn1032Thr)
c.*2804A>C (n.*2804A>C)
c.3077A>C (p.Asn1026Thr)
c.3116A>C (p.Asn1039Thr)
c.3131A>C (p.Asn1044Thr)
n.3879A>C
c.3137A>C (p.Asn1046Thr)
c.3059A>C (p.Asn1020Thr)
c.3029A>C (p.Asn1010Thr)
c.3329A>C (p.Asn1110Thr)
c.3338A>C (p.Asn1113Thr)
c.2684A>C (p.Asn895Thr)
c.3128A>C (p.Asn1043Thr)
9g.135786213A>GCA375491466KCNT1c.3194A>G (p.Asn1065Ser)
c.3035A>G (p.Asn1012Ser)
c.2942A>G (p.Asn981Ser)
c.2951A>G (p.Asn984Ser)
c.3095A>G (p.Asn1032Ser)
c.*2804A>G (n.*2804A>G)
c.3077A>G (p.Asn1026Ser)
c.3116A>G (p.Asn1039Ser)
c.3131A>G (p.Asn1044Ser)
n.3879A>G
c.3137A>G (p.Asn1046Ser)
c.3059A>G (p.Asn1020Ser)
c.3029A>G (p.Asn1010Ser)
c.3329A>G (p.Asn1110Ser)
c.3338A>G (p.Asn1113Ser)
c.2684A>G (p.Asn895Ser)
c.3128A>G (p.Asn1043Ser)
9g.135786213A>TCA375491467KCNT1c.3194A>T (p.Asn1065Ile)
c.3035A>T (p.Asn1012Ile)
c.2942A>T (p.Asn981Ile)
c.2951A>T (p.Asn984Ile)
c.3095A>T (p.Asn1032Ile)
c.*2804A>T (n.*2804A>T)
c.3077A>T (p.Asn1026Ile)
c.3116A>T (p.Asn1039Ile)
c.3131A>T (p.Asn1044Ile)
n.3879A>T
c.3137A>T (p.Asn1046Ile)
c.3059A>T (p.Asn1020Ile)
c.3029A>T (p.Asn1010Ile)
c.3329A>T (p.Asn1110Ile)
c.3338A>T (p.Asn1113Ile)
c.2684A>T (p.Asn895Ile)
c.3128A>T (p.Asn1043Ile)
 dbSNP gnomAD v2
9g.135786214C>ACA375491468KCNT1c.3195C>A (p.Asn1065Lys)
c.3036C>A (p.Asn1012Lys)
c.2943C>A (p.Asn981Lys)
c.2952C>A (p.Asn984Lys)
c.3096C>A (p.Asn1032Lys)
c.*2805C>A (n.*2805C>A)
c.3078C>A (p.Asn1026Lys)
c.3117C>A (p.Asn1039Lys)
c.3132C>A (p.Asn1044Lys)
n.3880C>A
c.3138C>A (p.Asn1046Lys)
c.3060C>A (p.Asn1020Lys)
c.3030C>A (p.Asn1010Lys)
c.3330C>A (p.Asn1110Lys)
c.3339C>A (p.Asn1113Lys)
c.2685C>A (p.Asn895Lys)
c.3129C>A (p.Asn1043Lys)
9g.135786214C=CA1883887415KCNT1c.3195C= (p.Asn1065=)
c.3036C= (p.Asn1012=)
c.2943C= (p.Asn981=)
c.2952C= (p.Asn984=)
c.3096C= (p.Asn1032=)
c.*2805C= (n.*2805C=)
c.3078C= (p.Asn1026=)
c.3117C= (p.Asn1039=)
c.3132C= (p.Asn1044=)
n.3880C=
c.3138C= (p.Asn1046=)
c.3060C= (p.Asn1020=)
c.3030C= (p.Asn1010=)
c.3330C= (p.Asn1110=)
c.3339C= (p.Asn1113=)
c.2685C= (p.Asn895=)
c.3129C= (p.Asn1043=)
9g.135786214C>GCA5327745KCNT1c.3195C>G (p.Asn1065Lys)
c.3036C>G (p.Asn1012Lys)
c.2943C>G (p.Asn981Lys)
c.2952C>G (p.Asn984Lys)
c.3096C>G (p.Asn1032Lys)
c.*2805C>G (n.*2805C>G)
c.3078C>G (p.Asn1026Lys)
c.3117C>G (p.Asn1039Lys)
c.3132C>G (p.Asn1044Lys)
n.3880C>G
c.3138C>G (p.Asn1046Lys)
c.3060C>G (p.Asn1020Lys)
c.3030C>G (p.Asn1010Lys)
c.3330C>G (p.Asn1110Lys)
c.3339C>G (p.Asn1113Lys)
c.2685C>G (p.Asn895Lys)
c.3129C>G (p.Asn1043Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135786214C>TCA16605758KCNT1c.3195C>T (p.Asn1065=)
c.3036C>T (p.Asn1012=)
c.2943C>T (p.Asn981=)
c.2952C>T (p.Asn984=)
c.3096C>T (p.Asn1032=)
c.*2805C>T (n.*2805C>T)
c.3078C>T (p.Asn1026=)
c.3117C>T (p.Asn1039=)
c.3132C>T (p.Asn1044=)
n.3880C>T
c.3138C>T (p.Asn1046=)
c.3060C>T (p.Asn1020=)
c.3030C>T (p.Asn1010=)
c.3330C>T (p.Asn1110=)
c.3339C>T (p.Asn1113=)
c.2685C>T (p.Asn895=)
c.3129C>T (p.Asn1043=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135786215delCA2692525241KCNT1c.3196del (p.Val1066TrpfsTer10)
c.3037del (p.Val1013TrpfsTer10)
c.2944del (p.Val982TrpfsTer10)
c.2953del (p.Val985TrpfsTer10)
c.3097del (p.Val1033TrpfsTer10)
c.*2806del (n.*2806del)
c.3079del (p.Val1027TrpfsTer10)
c.3118del (p.Val1040TrpfsTer10)
c.3133del (p.Val1045TrpfsTer10)
n.3881del
c.3139del (p.Val1047TrpfsTer10)
c.3061del (p.Val1021TrpfsTer10)
c.3031del (p.Val1011TrpfsTer10)
c.3331del (p.Val1111TrpfsTer10)
c.3340del (p.Val1114TrpfsTer10)
c.2686del (p.Val896TrpfsTer10)
c.3130del (p.Val1044TrpfsTer10)
 gnomAD v4
9g.135786215G>ACA5327746KCNT1c.3196G>A (p.Val1066Met)
c.3037G>A (p.Val1013Met)
c.2944G>A (p.Val982Met)
c.2953G>A (p.Val985Met)
c.3097G>A (p.Val1033Met)
c.*2806G>A (n.*2806G>A)
c.3079G>A (p.Val1027Met)
c.3118G>A (p.Val1040Met)
c.3133G>A (p.Val1045Met)
n.3881G>A
c.3139G>A (p.Val1047Met)
c.3061G>A (p.Val1021Met)
c.3031G>A (p.Val1011Met)
c.3331G>A (p.Val1111Met)
c.3340G>A (p.Val1114Met)
c.2686G>A (p.Val896Met)
c.3130G>A (p.Val1044Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786215G>CCA375491470KCNT1c.3196G>C (p.Val1066Leu)
c.3037G>C (p.Val1013Leu)
c.2944G>C (p.Val982Leu)
c.2953G>C (p.Val985Leu)
c.3097G>C (p.Val1033Leu)
c.*2806G>C (n.*2806G>C)
c.3079G>C (p.Val1027Leu)
c.3118G>C (p.Val1040Leu)
c.3133G>C (p.Val1045Leu)
n.3881G>C
c.3139G>C (p.Val1047Leu)
c.3061G>C (p.Val1021Leu)
c.3031G>C (p.Val1011Leu)
c.3331G>C (p.Val1111Leu)
c.3340G>C (p.Val1114Leu)
c.2686G>C (p.Val896Leu)
c.3130G>C (p.Val1044Leu)
9g.135786215G=CA1883887421KCNT1c.3196G= (p.Val1066=)
c.3037G= (p.Val1013=)
c.2944G= (p.Val982=)
c.2953G= (p.Val985=)
c.3097G= (p.Val1033=)
c.*2806G= (n.*2806G=)
c.3079G= (p.Val1027=)
c.3118G= (p.Val1040=)
c.3133G= (p.Val1045=)
n.3881G=
c.3139G= (p.Val1047=)
c.3061G= (p.Val1021=)
c.3031G= (p.Val1011=)
c.3331G= (p.Val1111=)
c.3340G= (p.Val1114=)
c.2686G= (p.Val896=)
c.3130G= (p.Val1044=)
9g.135786215G>TCA375491469KCNT1c.3196G>T (p.Val1066Leu)
c.3037G>T (p.Val1013Leu)
c.2944G>T (p.Val982Leu)
c.2953G>T (p.Val985Leu)
c.3097G>T (p.Val1033Leu)
c.*2806G>T (n.*2806G>T)
c.3079G>T (p.Val1027Leu)
c.3118G>T (p.Val1040Leu)
c.3133G>T (p.Val1045Leu)
n.3881G>T
c.3139G>T (p.Val1047Leu)
c.3061G>T (p.Val1021Leu)
c.3031G>T (p.Val1011Leu)
c.3331G>T (p.Val1111Leu)
c.3340G>T (p.Val1114Leu)
c.2686G>T (p.Val896Leu)
c.3130G>T (p.Val1044Leu)
9g.135786216T>ACA375491471KCNT1c.3197T>A (p.Val1066Glu)
c.3038T>A (p.Val1013Glu)
c.2945T>A (p.Val982Glu)
c.2954T>A (p.Val985Glu)
c.3098T>A (p.Val1033Glu)
c.*2807T>A (n.*2807T>A)
c.3080T>A (p.Val1027Glu)
c.3119T>A (p.Val1040Glu)
c.3134T>A (p.Val1045Glu)
n.3882T>A
c.3140T>A (p.Val1047Glu)
c.3062T>A (p.Val1021Glu)
c.3032T>A (p.Val1011Glu)
c.3332T>A (p.Val1111Glu)
c.3341T>A (p.Val1114Glu)
c.2687T>A (p.Val896Glu)
c.3131T>A (p.Val1044Glu)
9g.135786216T>CCA375491472KCNT1c.3197T>C (p.Val1066Ala)
c.3038T>C (p.Val1013Ala)
c.2945T>C (p.Val982Ala)
c.2954T>C (p.Val985Ala)
c.3098T>C (p.Val1033Ala)
c.*2807T>C (n.*2807T>C)
c.3080T>C (p.Val1027Ala)
c.3119T>C (p.Val1040Ala)
c.3134T>C (p.Val1045Ala)
n.3882T>C
c.3140T>C (p.Val1047Ala)
c.3062T>C (p.Val1021Ala)
c.3032T>C (p.Val1011Ala)
c.3332T>C (p.Val1111Ala)
c.3341T>C (p.Val1114Ala)
c.2687T>C (p.Val896Ala)
c.3131T>C (p.Val1044Ala)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.135786216T>GCA375491473KCNT1c.3197T>G (p.Val1066Gly)
c.3038T>G (p.Val1013Gly)
c.2945T>G (p.Val982Gly)
c.2954T>G (p.Val985Gly)
c.3098T>G (p.Val1033Gly)
c.*2807T>G (n.*2807T>G)
c.3080T>G (p.Val1027Gly)
c.3119T>G (p.Val1040Gly)
c.3134T>G (p.Val1045Gly)
n.3882T>G
c.3140T>G (p.Val1047Gly)
c.3062T>G (p.Val1021Gly)
c.3032T>G (p.Val1011Gly)
c.3332T>G (p.Val1111Gly)
c.3341T>G (p.Val1114Gly)
c.2687T>G (p.Val896Gly)
c.3131T>G (p.Val1044Gly)
 dbSNP gnomAD v3 gnomAD v4
9g.135786216T=CA1883887432KCNT1c.3197T= (p.Val1066=)
c.3038T= (p.Val1013=)
c.2945T= (p.Val982=)
c.2954T= (p.Val985=)
c.3098T= (p.Val1033=)
c.*2807T= (n.*2807T=)
c.3080T= (p.Val1027=)
c.3119T= (p.Val1040=)
c.3134T= (p.Val1045=)
n.3882T=
c.3140T= (p.Val1047=)
c.3062T= (p.Val1021=)
c.3032T= (p.Val1011=)
c.3332T= (p.Val1111=)
c.3341T= (p.Val1114=)
c.2687T= (p.Val896=)
c.3131T= (p.Val1044=)
9g.135786217G>ACA467820981KCNT1c.3198G>A (p.Val1066=)
c.3039G>A (p.Val1013=)
c.2946G>A (p.Val982=)
c.2955G>A (p.Val985=)
c.3099G>A (p.Val1033=)
c.*2808G>A (n.*2808G>A)
c.3081G>A (p.Val1027=)
c.3120G>A (p.Val1040=)
c.3135G>A (p.Val1045=)
n.3883G>A
c.3141G>A (p.Val1047=)
c.3063G>A (p.Val1021=)
c.3033G>A (p.Val1011=)
c.3333G>A (p.Val1111=)
c.3342G>A (p.Val1114=)
c.2688G>A (p.Val896=)
c.3132G>A (p.Val1044=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.135786217G>CCA467820980KCNT1c.3198G>C (p.Val1066=)
c.3039G>C (p.Val1013=)
c.2946G>C (p.Val982=)
c.2955G>C (p.Val985=)
c.3099G>C (p.Val1033=)
c.*2808G>C (n.*2808G>C)
c.3081G>C (p.Val1027=)
c.3120G>C (p.Val1040=)
c.3135G>C (p.Val1045=)
n.3883G>C
c.3141G>C (p.Val1047=)
c.3063G>C (p.Val1021=)
c.3033G>C (p.Val1011=)
c.3333G>C (p.Val1111=)
c.3342G>C (p.Val1114=)
c.2688G>C (p.Val896=)
c.3132G>C (p.Val1044=)
9g.135786217G=CA1883887438KCNT1c.3198G= (p.Val1066=)
c.3039G= (p.Val1013=)
c.2946G= (p.Val982=)
c.2955G= (p.Val985=)
c.3099G= (p.Val1033=)
c.*2808G= (n.*2808G=)
c.3081G= (p.Val1027=)
c.3120G= (p.Val1040=)
c.3135G= (p.Val1045=)
n.3883G=
c.3141G= (p.Val1047=)
c.3063G= (p.Val1021=)
c.3033G= (p.Val1011=)
c.3333G= (p.Val1111=)
c.3342G= (p.Val1114=)
c.2688G= (p.Val896=)
c.3132G= (p.Val1044=)
9g.135786217G>TCA467820979KCNT1c.3198G>T (p.Val1066=)
c.3039G>T (p.Val1013=)
c.2946G>T (p.Val982=)
c.2955G>T (p.Val985=)
c.3099G>T (p.Val1033=)
c.*2808G>T (n.*2808G>T)
c.3081G>T (p.Val1027=)
c.3120G>T (p.Val1040=)
c.3135G>T (p.Val1045=)
n.3883G>T
c.3141G>T (p.Val1047=)
c.3063G>T (p.Val1021=)
c.3033G>T (p.Val1011=)
c.3333G>T (p.Val1111=)
c.3342G>T (p.Val1114=)
c.2688G>T (p.Val896=)
c.3132G>T (p.Val1044=)
9g.135786218dupCA2692525254KCNT1c.3199dup (p.Glu1067GlyfsTer4)
c.3040dup (p.Glu1014GlyfsTer4)
c.2947dup (p.Glu983GlyfsTer4)
c.2956dup (p.Glu986GlyfsTer4)
c.3100dup (p.Glu1034GlyfsTer4)
c.*2809dup (n.*2809dup)
c.3082dup (p.Glu1028GlyfsTer4)
c.3121dup (p.Glu1041GlyfsTer4)
c.3136dup (p.Glu1046GlyfsTer4)
n.3884dup
c.3142dup (p.Glu1048GlyfsTer4)
c.3064dup (p.Glu1022GlyfsTer4)
c.3034dup (p.Glu1012GlyfsTer4)
c.3334dup (p.Glu1112GlyfsTer4)
c.3343dup (p.Glu1115GlyfsTer4)
c.2689dup (p.Glu897GlyfsTer4)
c.3133dup (p.Glu1045GlyfsTer4)
 gnomAD v4
9g.135786218G>ACA375491474KCNT1c.3199G>A (p.Glu1067Lys)
c.3040G>A (p.Glu1014Lys)
c.2947G>A (p.Glu983Lys)
c.2956G>A (p.Glu986Lys)
c.3100G>A (p.Glu1034Lys)
c.*2809G>A (n.*2809G>A)
c.3082G>A (p.Glu1028Lys)
c.3121G>A (p.Glu1041Lys)
c.3136G>A (p.Glu1046Lys)
n.3884G>A
c.3142G>A (p.Glu1048Lys)
c.3064G>A (p.Glu1022Lys)
c.3034G>A (p.Glu1012Lys)
c.3334G>A (p.Glu1112Lys)
c.3343G>A (p.Glu1115Lys)
c.2689G>A (p.Glu897Lys)
c.3133G>A (p.Glu1045Lys)
9g.135786218G>CCA375491475KCNT1c.3199G>C (p.Glu1067Gln)
c.3040G>C (p.Glu1014Gln)
c.2947G>C (p.Glu983Gln)
c.2956G>C (p.Glu986Gln)
c.3100G>C (p.Glu1034Gln)
c.*2809G>C (n.*2809G>C)
c.3082G>C (p.Glu1028Gln)
c.3121G>C (p.Glu1041Gln)
c.3136G>C (p.Glu1046Gln)
n.3884G>C
c.3142G>C (p.Glu1048Gln)
c.3064G>C (p.Glu1022Gln)
c.3034G>C (p.Glu1012Gln)
c.3334G>C (p.Glu1112Gln)
c.3343G>C (p.Glu1115Gln)
c.2689G>C (p.Glu897Gln)
c.3133G>C (p.Glu1045Gln)
9g.135786218G>TCA375491476KCNT1c.3199G>T (p.Glu1067Ter)
c.3040G>T (p.Glu1014Ter)
c.2947G>T (p.Glu983Ter)
c.2956G>T (p.Glu986Ter)
c.3100G>T (p.Glu1034Ter)
c.*2809G>T (n.*2809G>T)
c.3082G>T (p.Glu1028Ter)
c.3121G>T (p.Glu1041Ter)
c.3136G>T (p.Glu1046Ter)
n.3884G>T
c.3142G>T (p.Glu1048Ter)
c.3064G>T (p.Glu1022Ter)
c.3034G>T (p.Glu1012Ter)
c.3334G>T (p.Glu1112Ter)
c.3343G>T (p.Glu1115Ter)
c.2689G>T (p.Glu897Ter)
c.3133G>T (p.Glu1045Ter)
9g.135786219A>CCA375491477KCNT1c.3200A>C (p.Glu1067Ala)
c.3041A>C (p.Glu1014Ala)
c.2948A>C (p.Glu983Ala)
c.2957A>C (p.Glu986Ala)
c.3101A>C (p.Glu1034Ala)
c.*2810A>C (n.*2810A>C)
c.3083A>C (p.Glu1028Ala)
c.3122A>C (p.Glu1041Ala)
c.3137A>C (p.Glu1046Ala)
n.3885A>C
c.3143A>C (p.Glu1048Ala)
c.3065A>C (p.Glu1022Ala)
c.3035A>C (p.Glu1012Ala)
c.3335A>C (p.Glu1112Ala)
c.3344A>C (p.Glu1115Ala)
c.2690A>C (p.Glu897Ala)
c.3134A>C (p.Glu1045Ala)
9g.135786219A>GCA375491478KCNT1c.3200A>G (p.Glu1067Gly)
c.3041A>G (p.Glu1014Gly)
c.2948A>G (p.Glu983Gly)
c.2957A>G (p.Glu986Gly)
c.3101A>G (p.Glu1034Gly)
c.*2810A>G (n.*2810A>G)
c.3083A>G (p.Glu1028Gly)
c.3122A>G (p.Glu1041Gly)
c.3137A>G (p.Glu1046Gly)
n.3885A>G
c.3143A>G (p.Glu1048Gly)
c.3065A>G (p.Glu1022Gly)
c.3035A>G (p.Glu1012Gly)
c.3335A>G (p.Glu1112Gly)
c.3344A>G (p.Glu1115Gly)
c.2690A>G (p.Glu897Gly)
c.3134A>G (p.Glu1045Gly)
9g.135786219A>TCA375491479KCNT1c.3200A>T (p.Glu1067Val)
c.3041A>T (p.Glu1014Val)
c.2948A>T (p.Glu983Val)
c.2957A>T (p.Glu986Val)
c.3101A>T (p.Glu1034Val)
c.*2810A>T (n.*2810A>T)
c.3083A>T (p.Glu1028Val)
c.3122A>T (p.Glu1041Val)
c.3137A>T (p.Glu1046Val)
n.3885A>T
c.3143A>T (p.Glu1048Val)
c.3065A>T (p.Glu1022Val)
c.3035A>T (p.Glu1012Val)
c.3335A>T (p.Glu1112Val)
c.3344A>T (p.Glu1115Val)
c.2690A>T (p.Glu897Val)
c.3134A>T (p.Glu1045Val)
9g.135786220G>ACA467820987KCNT1c.3201G>A (p.Glu1067=)
c.3042G>A (p.Glu1014=)
c.2949G>A (p.Glu983=)
c.2958G>A (p.Glu986=)
c.3102G>A (p.Glu1034=)
c.*2811G>A (n.*2811G>A)
c.3084G>A (p.Glu1028=)
c.3123G>A (p.Glu1041=)
c.3138G>A (p.Glu1046=)
n.3886G>A
c.3144G>A (p.Glu1048=)
c.3066G>A (p.Glu1022=)
c.3036G>A (p.Glu1012=)
c.3336G>A (p.Glu1112=)
c.3345G>A (p.Glu1115=)
c.2691G>A (p.Glu897=)
c.3135G>A (p.Glu1045=)
9g.135786220G>CCA375491480KCNT1c.3201G>C (p.Glu1067Asp)
c.3042G>C (p.Glu1014Asp)
c.2949G>C (p.Glu983Asp)
c.2958G>C (p.Glu986Asp)
c.3102G>C (p.Glu1034Asp)
c.*2811G>C (n.*2811G>C)
c.3084G>C (p.Glu1028Asp)
c.3123G>C (p.Glu1041Asp)
c.3138G>C (p.Glu1046Asp)
n.3886G>C
c.3144G>C (p.Glu1048Asp)
c.3066G>C (p.Glu1022Asp)
c.3036G>C (p.Glu1012Asp)
c.3336G>C (p.Glu1112Asp)
c.3345G>C (p.Glu1115Asp)
c.2691G>C (p.Glu897Asp)
c.3135G>C (p.Glu1045Asp)
9g.135786220G=CA1883887443KCNT1c.3201G= (p.Glu1067=)
c.3042G= (p.Glu1014=)
c.2949G= (p.Glu983=)
c.2958G= (p.Glu986=)
c.3102G= (p.Glu1034=)
c.*2811G= (n.*2811G=)
c.3084G= (p.Glu1028=)
c.3123G= (p.Glu1041=)
c.3138G= (p.Glu1046=)
n.3886G=
c.3144G= (p.Glu1048=)
c.3066G= (p.Glu1022=)
c.3036G= (p.Glu1012=)
c.3336G= (p.Glu1112=)
c.3345G= (p.Glu1115=)
c.2691G= (p.Glu897=)
c.3135G= (p.Glu1045=)
9g.135786220G>TCA375491481KCNT1c.3201G>T (p.Glu1067Asp)
c.3042G>T (p.Glu1014Asp)
c.2949G>T (p.Glu983Asp)
c.2958G>T (p.Glu986Asp)
c.3102G>T (p.Glu1034Asp)
c.*2811G>T (n.*2811G>T)
c.3084G>T (p.Glu1028Asp)
c.3123G>T (p.Glu1041Asp)
c.3138G>T (p.Glu1046Asp)
n.3886G>T
c.3144G>T (p.Glu1048Asp)
c.3066G>T (p.Glu1022Asp)
c.3036G>T (p.Glu1012Asp)
c.3336G>T (p.Glu1112Asp)
c.3345G>T (p.Glu1115Asp)
c.2691G>T (p.Glu897Asp)
c.3135G>T (p.Glu1045Asp)
 dbSNP gnomAD v4
9g.135786221G>ACA375491482KCNT1c.3202G>A (p.Asp1068Asn)
c.3043G>A (p.Asp1015Asn)
c.2950G>A (p.Asp984Asn)
c.2959G>A (p.Asp987Asn)
c.3103G>A (p.Asp1035Asn)
c.*2812G>A (n.*2812G>A)
c.3085G>A (p.Asp1029Asn)
c.3124G>A (p.Asp1042Asn)
c.3139G>A (p.Asp1047Asn)
n.3887G>A
c.3145G>A (p.Asp1049Asn)
c.3067G>A (p.Asp1023Asn)
c.3037G>A (p.Asp1013Asn)
c.3337G>A (p.Asp1113Asn)
c.3346G>A (p.Asp1116Asn)
c.2692G>A (p.Asp898Asn)
c.3136G>A (p.Asp1046Asn)
 ClinVar dbSNP
9g.135786221G>CCA375491483KCNT1c.3202G>C (p.Asp1068His)
c.3043G>C (p.Asp1015His)
c.2950G>C (p.Asp984His)
c.2959G>C (p.Asp987His)
c.3103G>C (p.Asp1035His)
c.*2812G>C (n.*2812G>C)
c.3085G>C (p.Asp1029His)
c.3124G>C (p.Asp1042His)
c.3139G>C (p.Asp1047His)
n.3887G>C
c.3145G>C (p.Asp1049His)
c.3067G>C (p.Asp1023His)
c.3037G>C (p.Asp1013His)
c.3337G>C (p.Asp1113His)
c.3346G>C (p.Asp1116His)
c.2692G>C (p.Asp898His)
c.3136G>C (p.Asp1046His)
9g.135786221G=CA1883887448KCNT1c.3202G= (p.Asp1068=)
c.3043G= (p.Asp1015=)
c.2950G= (p.Asp984=)
c.2959G= (p.Asp987=)
c.3103G= (p.Asp1035=)
c.*2812G= (n.*2812G=)
c.3085G= (p.Asp1029=)
c.3124G= (p.Asp1042=)
c.3139G= (p.Asp1047=)
n.3887G=
c.3145G= (p.Asp1049=)
c.3067G= (p.Asp1023=)
c.3037G= (p.Asp1013=)
c.3337G= (p.Asp1113=)
c.3346G= (p.Asp1116=)
c.2692G= (p.Asp898=)
c.3136G= (p.Asp1046=)
9g.135786221G>TCA375491484KCNT1c.3202G>T (p.Asp1068Tyr)
c.3043G>T (p.Asp1015Tyr)
c.2950G>T (p.Asp984Tyr)
c.2959G>T (p.Asp987Tyr)
c.3103G>T (p.Asp1035Tyr)
c.*2812G>T (n.*2812G>T)
c.3085G>T (p.Asp1029Tyr)
c.3124G>T (p.Asp1042Tyr)
c.3139G>T (p.Asp1047Tyr)
n.3887G>T
c.3145G>T (p.Asp1049Tyr)
c.3067G>T (p.Asp1023Tyr)
c.3037G>T (p.Asp1013Tyr)
c.3337G>T (p.Asp1113Tyr)
c.3346G>T (p.Asp1116Tyr)
c.2692G>T (p.Asp898Tyr)
c.3136G>T (p.Asp1046Tyr)
 gnomAD v4
9g.135786222A>CCA375491486KCNT1c.3203A>C (p.Asp1068Ala)
c.3044A>C (p.Asp1015Ala)
c.2951A>C (p.Asp984Ala)
c.2960A>C (p.Asp987Ala)
c.3104A>C (p.Asp1035Ala)
c.*2813A>C (n.*2813A>C)
c.3086A>C (p.Asp1029Ala)
c.3125A>C (p.Asp1042Ala)
c.3140A>C (p.Asp1047Ala)
n.3888A>C
c.3146A>C (p.Asp1049Ala)
c.3068A>C (p.Asp1023Ala)
c.3038A>C (p.Asp1013Ala)
c.3338A>C (p.Asp1113Ala)
c.3347A>C (p.Asp1116Ala)
c.2693A>C (p.Asp898Ala)
c.3137A>C (p.Asp1046Ala)
9g.135786222A>GCA375491487KCNT1c.3203A>G (p.Asp1068Gly)
c.3044A>G (p.Asp1015Gly)
c.2951A>G (p.Asp984Gly)
c.2960A>G (p.Asp987Gly)
c.3104A>G (p.Asp1035Gly)
c.*2813A>G (n.*2813A>G)
c.3086A>G (p.Asp1029Gly)
c.3125A>G (p.Asp1042Gly)
c.3140A>G (p.Asp1047Gly)
n.3888A>G
c.3146A>G (p.Asp1049Gly)
c.3068A>G (p.Asp1023Gly)
c.3038A>G (p.Asp1013Gly)
c.3338A>G (p.Asp1113Gly)
c.3347A>G (p.Asp1116Gly)
c.2693A>G (p.Asp898Gly)
c.3137A>G (p.Asp1046Gly)
9g.135786222A>TCA375491485KCNT1c.3203A>T (p.Asp1068Val)
c.3044A>T (p.Asp1015Val)
c.2951A>T (p.Asp984Val)
c.2960A>T (p.Asp987Val)
c.3104A>T (p.Asp1035Val)
c.*2813A>T (n.*2813A>T)
c.3086A>T (p.Asp1029Val)
c.3125A>T (p.Asp1042Val)
c.3140A>T (p.Asp1047Val)
n.3888A>T
c.3146A>T (p.Asp1049Val)
c.3068A>T (p.Asp1023Val)
c.3038A>T (p.Asp1013Val)
c.3338A>T (p.Asp1113Val)
c.3347A>T (p.Asp1116Val)
c.2693A>T (p.Asp898Val)
c.3137A>T (p.Asp1046Val)
9g.135786223C>ACA375491488KCNT1c.3204C>A (p.Asp1068Glu)
c.3045C>A (p.Asp1015Glu)
c.2952C>A (p.Asp984Glu)
c.2961C>A (p.Asp987Glu)
c.3105C>A (p.Asp1035Glu)
c.*2814C>A (n.*2814C>A)
c.3087C>A (p.Asp1029Glu)
c.3126C>A (p.Asp1042Glu)
c.3141C>A (p.Asp1047Glu)
n.3889C>A
c.3147C>A (p.Asp1049Glu)
c.3069C>A (p.Asp1023Glu)
c.3039C>A (p.Asp1013Glu)
c.3339C>A (p.Asp1113Glu)
c.3348C>A (p.Asp1116Glu)
c.2694C>A (p.Asp898Glu)
c.3138C>A (p.Asp1046Glu)
9g.135786223C=CA1883887452KCNT1c.3204C= (p.Asp1068=)
c.3045C= (p.Asp1015=)
c.2952C= (p.Asp984=)
c.2961C= (p.Asp987=)
c.3105C= (p.Asp1035=)
c.*2814C= (n.*2814C=)
c.3087C= (p.Asp1029=)
c.3126C= (p.Asp1042=)
c.3141C= (p.Asp1047=)
n.3889C=
c.3147C= (p.Asp1049=)
c.3069C= (p.Asp1023=)
c.3039C= (p.Asp1013=)
c.3339C= (p.Asp1113=)
c.3348C= (p.Asp1116=)
c.2694C= (p.Asp898=)
c.3138C= (p.Asp1046=)
9g.135786223C>GCA375491489KCNT1c.3204C>G (p.Asp1068Glu)
c.3045C>G (p.Asp1015Glu)
c.2952C>G (p.Asp984Glu)
c.2961C>G (p.Asp987Glu)
c.3105C>G (p.Asp1035Glu)
c.*2814C>G (n.*2814C>G)
c.3087C>G (p.Asp1029Glu)
c.3126C>G (p.Asp1042Glu)
c.3141C>G (p.Asp1047Glu)
n.3889C>G
c.3147C>G (p.Asp1049Glu)
c.3069C>G (p.Asp1023Glu)
c.3039C>G (p.Asp1013Glu)
c.3339C>G (p.Asp1113Glu)
c.3348C>G (p.Asp1116Glu)
c.2694C>G (p.Asp898Glu)
c.3138C>G (p.Asp1046Glu)
9g.135786223C>TCA467820989KCNT1c.3204C>T (p.Asp1068=)
c.3045C>T (p.Asp1015=)
c.2952C>T (p.Asp984=)
c.2961C>T (p.Asp987=)
c.3105C>T (p.Asp1035=)
c.*2814C>T (n.*2814C>T)
c.3087C>T (p.Asp1029=)
c.3126C>T (p.Asp1042=)
c.3141C>T (p.Asp1047=)
n.3889C>T
c.3147C>T (p.Asp1049=)
c.3069C>T (p.Asp1023=)
c.3039C>T (p.Asp1013=)
c.3339C>T (p.Asp1113=)
c.3348C>T (p.Asp1116=)
c.2694C>T (p.Asp898=)
c.3138C>T (p.Asp1046=)
 dbSNP gnomAD v2
9g.135786224T>ACA5327747KCNT1c.3205T>A (p.Cys1069Ser)
c.3046T>A (p.Cys1016Ser)
c.2953T>A (p.Cys985Ser)
c.2962T>A (p.Cys988Ser)
c.3106T>A (p.Cys1036Ser)
c.*2815T>A (n.*2815T>A)
c.3088T>A (p.Cys1030Ser)
c.3127T>A (p.Cys1043Ser)
c.3142T>A (p.Cys1048Ser)
n.3890T>A
c.3148T>A (p.Cys1050Ser)
c.3070T>A (p.Cys1024Ser)
c.3040T>A (p.Cys1014Ser)
c.3340T>A (p.Cys1114Ser)
c.3349T>A (p.Cys1117Ser)
c.2695T>A (p.Cys899Ser)
c.3139T>A (p.Cys1047Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135786224T>CCA375491490KCNT1c.3205T>C (p.Cys1069Arg)
c.3046T>C (p.Cys1016Arg)
c.2953T>C (p.Cys985Arg)
c.2962T>C (p.Cys988Arg)
c.3106T>C (p.Cys1036Arg)
c.*2815T>C (n.*2815T>C)
c.3088T>C (p.Cys1030Arg)
c.3127T>C (p.Cys1043Arg)
c.3142T>C (p.Cys1048Arg)
n.3890T>C
c.3148T>C (p.Cys1050Arg)
c.3070T>C (p.Cys1024Arg)
c.3040T>C (p.Cys1014Arg)
c.3340T>C (p.Cys1114Arg)
c.3349T>C (p.Cys1117Arg)
c.2695T>C (p.Cys899Arg)
c.3139T>C (p.Cys1047Arg)
 gnomAD v4
9g.135786224T>GCA375491491KCNT1c.3205T>G (p.Cys1069Gly)
c.3046T>G (p.Cys1016Gly)
c.2953T>G (p.Cys985Gly)
c.2962T>G (p.Cys988Gly)
c.3106T>G (p.Cys1036Gly)
c.*2815T>G (n.*2815T>G)
c.3088T>G (p.Cys1030Gly)
c.3127T>G (p.Cys1043Gly)
c.3142T>G (p.Cys1048Gly)
n.3890T>G
c.3148T>G (p.Cys1050Gly)
c.3070T>G (p.Cys1024Gly)
c.3040T>G (p.Cys1014Gly)
c.3340T>G (p.Cys1114Gly)
c.3349T>G (p.Cys1117Gly)
c.2695T>G (p.Cys899Gly)
c.3139T>G (p.Cys1047Gly)
 dbSNP gnomAD v3 gnomAD v4
9g.135786224T=CA1883887462KCNT1c.3205T= (p.Cys1069=)
c.3046T= (p.Cys1016=)
c.2953T= (p.Cys985=)
c.2962T= (p.Cys988=)
c.3106T= (p.Cys1036=)
c.*2815T= (n.*2815T=)
c.3088T= (p.Cys1030=)
c.3127T= (p.Cys1043=)
c.3142T= (p.Cys1048=)
n.3890T=
c.3148T= (p.Cys1050=)
c.3070T= (p.Cys1024=)
c.3040T= (p.Cys1014=)
c.3340T= (p.Cys1114=)
c.3349T= (p.Cys1117=)
c.2695T= (p.Cys899=)
c.3139T= (p.Cys1047=)
9g.135786226_135786227delCA2692525262KCNT1c.3207_3208del (p.Cys1069Ter)
c.3048_3049del (p.Cys1016Ter)
c.2955_2956del (p.Cys985Ter)
c.2964_2965del (p.Cys988Ter)
c.3108_3109del (p.Cys1036Ter)
c.*2817_*2818del (n.*2817_*2818del)
c.3090_3091del (p.Cys1030Ter)
c.3129_3130del (p.Cys1043Ter)
c.3144_3145del (p.Cys1048Ter)
n.3892_3893del
c.3150_3151del (p.Cys1050Ter)
c.3072_3073del (p.Cys1024Ter)
c.3042_3043del (p.Cys1014Ter)
c.3342_3343del (p.Cys1114Ter)
c.3351_3352del (p.Cys1117Ter)
c.2697_2698del (p.Cys899Ter)
c.3141_3142del (p.Cys1047Ter)
 gnomAD v4
9g.135786225G>ACA5327748KCNT1c.3206G>A (p.Cys1069Tyr)
c.3047G>A (p.Cys1016Tyr)
c.2954G>A (p.Cys985Tyr)
c.2963G>A (p.Cys988Tyr)
c.3107G>A (p.Cys1036Tyr)
c.*2816G>A (n.*2816G>A)
c.3089G>A (p.Cys1030Tyr)
c.3128G>A (p.Cys1043Tyr)
c.3143G>A (p.Cys1048Tyr)
n.3891G>A
c.3149G>A (p.Cys1050Tyr)
c.3071G>A (p.Cys1024Tyr)
c.3041G>A (p.Cys1014Tyr)
c.3341G>A (p.Cys1114Tyr)
c.3350G>A (p.Cys1117Tyr)
c.2696G>A (p.Cys899Tyr)
c.3140G>A (p.Cys1047Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135786225G>CCA375491492KCNT1c.3206G>C (p.Cys1069Ser)
c.3047G>C (p.Cys1016Ser)
c.2954G>C (p.Cys985Ser)
c.2963G>C (p.Cys988Ser)
c.3107G>C (p.Cys1036Ser)
c.*2816G>C (n.*2816G>C)
c.3089G>C (p.Cys1030Ser)
c.3128G>C (p.Cys1043Ser)
c.3143G>C (p.Cys1048Ser)
n.3891G>C
c.3149G>C (p.Cys1050Ser)
c.3071G>C (p.Cys1024Ser)
c.3041G>C (p.Cys1014Ser)
c.3341G>C (p.Cys1114Ser)
c.3350G>C (p.Cys1117Ser)
c.2696G>C (p.Cys899Ser)
c.3140G>C (p.Cys1047Ser)
9g.135786225G=CA1883887473KCNT1c.3206G= (p.Cys1069=)
c.3047G= (p.Cys1016=)
c.2954G= (p.Cys985=)
c.2963G= (p.Cys988=)
c.3107G= (p.Cys1036=)
c.*2816G= (n.*2816G=)
c.3089G= (p.Cys1030=)
c.3128G= (p.Cys1043=)
c.3143G= (p.Cys1048=)
n.3891G=
c.3149G= (p.Cys1050=)
c.3071G= (p.Cys1024=)
c.3041G= (p.Cys1014=)
c.3341G= (p.Cys1114=)
c.3350G= (p.Cys1117=)
c.2696G= (p.Cys899=)
c.3140G= (p.Cys1047=)
9g.135786225G>TCA375491493KCNT1c.3206G>T (p.Cys1069Phe)
c.3047G>T (p.Cys1016Phe)
c.2954G>T (p.Cys985Phe)
c.2963G>T (p.Cys988Phe)
c.3107G>T (p.Cys1036Phe)
c.*2816G>T (n.*2816G>T)
c.3089G>T (p.Cys1030Phe)
c.3128G>T (p.Cys1043Phe)
c.3143G>T (p.Cys1048Phe)
n.3891G>T
c.3149G>T (p.Cys1050Phe)
c.3071G>T (p.Cys1024Phe)
c.3041G>T (p.Cys1014Phe)
c.3341G>T (p.Cys1114Phe)
c.3350G>T (p.Cys1117Phe)
c.2696G>T (p.Cys899Phe)
c.3140G>T (p.Cys1047Phe)
 gnomAD v4
9g.135786226T>ACA375491494KCNT1c.3207T>A (p.Cys1069Ter)
c.3048T>A (p.Cys1016Ter)
c.2955T>A (p.Cys985Ter)
c.2964T>A (p.Cys988Ter)
c.3108T>A (p.Cys1036Ter)
c.*2817T>A (n.*2817T>A)
c.3090T>A (p.Cys1030Ter)
c.3129T>A (p.Cys1043Ter)
c.3144T>A (p.Cys1048Ter)
n.3892T>A
c.3150T>A (p.Cys1050Ter)
c.3072T>A (p.Cys1024Ter)
c.3042T>A (p.Cys1014Ter)
c.3342T>A (p.Cys1114Ter)
c.3351T>A (p.Cys1117Ter)
c.2697T>A (p.Cys899Ter)
c.3141T>A (p.Cys1047Ter)
9g.135786226T>CCA467821156KCNT1c.3207T>C (p.Cys1069=)
c.3048T>C (p.Cys1016=)
c.2955T>C (p.Cys985=)
c.2964T>C (p.Cys988=)
c.3108T>C (p.Cys1036=)
c.*2817T>C (n.*2817T>C)
c.3090T>C (p.Cys1030=)
c.3129T>C (p.Cys1043=)
c.3144T>C (p.Cys1048=)
n.3892T>C
c.3150T>C (p.Cys1050=)
c.3072T>C (p.Cys1024=)
c.3042T>C (p.Cys1014=)
c.3342T>C (p.Cys1114=)
c.3351T>C (p.Cys1117=)
c.2697T>C (p.Cys899=)
c.3141T>C (p.Cys1047=)
9g.135786226T>GCA375491495KCNT1c.3207T>G (p.Cys1069Trp)
c.3048T>G (p.Cys1016Trp)
c.2955T>G (p.Cys985Trp)
c.2964T>G (p.Cys988Trp)
c.3108T>G (p.Cys1036Trp)
c.*2817T>G (n.*2817T>G)
c.3090T>G (p.Cys1030Trp)
c.3129T>G (p.Cys1043Trp)
c.3144T>G (p.Cys1048Trp)
n.3892T>G
c.3150T>G (p.Cys1050Trp)
c.3072T>G (p.Cys1024Trp)
c.3042T>G (p.Cys1014Trp)
c.3342T>G (p.Cys1114Trp)
c.3351T>G (p.Cys1117Trp)
c.2697T>G (p.Cys899Trp)
c.3141T>G (p.Cys1047Trp)
9g.135786227G>ACA375491496KCNT1c.3208G>A (p.Glu1070Lys)
c.3049G>A (p.Glu1017Lys)
c.2956G>A (p.Glu986Lys)
c.2965G>A (p.Glu989Lys)
c.3109G>A (p.Glu1037Lys)
c.*2818G>A (n.*2818G>A)
c.3091G>A (p.Glu1031Lys)
c.3130G>A (p.Glu1044Lys)
c.3145G>A (p.Glu1049Lys)
n.3893G>A
c.3151G>A (p.Glu1051Lys)
c.3073G>A (p.Glu1025Lys)
c.3043G>A (p.Glu1015Lys)
c.3343G>A (p.Glu1115Lys)
c.3352G>A (p.Glu1118Lys)
c.2698G>A (p.Glu900Lys)
c.3142G>A (p.Glu1048Lys)
9g.135786227G>CCA375491497KCNT1c.3208G>C (p.Glu1070Gln)
c.3049G>C (p.Glu1017Gln)
c.2956G>C (p.Glu986Gln)
c.2965G>C (p.Glu989Gln)
c.3109G>C (p.Glu1037Gln)
c.*2818G>C (n.*2818G>C)
c.3091G>C (p.Glu1031Gln)
c.3130G>C (p.Glu1044Gln)
c.3145G>C (p.Glu1049Gln)
n.3893G>C
c.3151G>C (p.Glu1051Gln)
c.3073G>C (p.Glu1025Gln)
c.3043G>C (p.Glu1015Gln)
c.3343G>C (p.Glu1115Gln)
c.3352G>C (p.Glu1118Gln)
c.2698G>C (p.Glu900Gln)
c.3142G>C (p.Glu1048Gln)
9g.135786227G>TCA375491498KCNT1c.3208G>T (p.Glu1070Ter)
c.3049G>T (p.Glu1017Ter)
c.2956G>T (p.Glu986Ter)
c.2965G>T (p.Glu989Ter)
c.3109G>T (p.Glu1037Ter)
c.*2818G>T (n.*2818G>T)
c.3091G>T (p.Glu1031Ter)
c.3130G>T (p.Glu1044Ter)
c.3145G>T (p.Glu1049Ter)
n.3893G>T
c.3151G>T (p.Glu1051Ter)
c.3073G>T (p.Glu1025Ter)
c.3043G>T (p.Glu1015Ter)
c.3343G>T (p.Glu1115Ter)
c.3352G>T (p.Glu1118Ter)
c.2698G>T (p.Glu900Ter)
c.3142G>T (p.Glu1048Ter)
 gnomAD v4
9g.135786228A>CCA375491499KCNT1c.3209A>C (p.Glu1070Ala)
c.3050A>C (p.Glu1017Ala)
c.2957A>C (p.Glu986Ala)
c.2966A>C (p.Glu989Ala)
c.3110A>C (p.Glu1037Ala)
c.*2819A>C (n.*2819A>C)
c.3092A>C (p.Glu1031Ala)
c.3131A>C (p.Glu1044Ala)
c.3146A>C (p.Glu1049Ala)
n.3894A>C
c.3152A>C (p.Glu1051Ala)
c.3074A>C (p.Glu1025Ala)
c.3044A>C (p.Glu1015Ala)
c.3344A>C (p.Glu1115Ala)
c.3353A>C (p.Glu1118Ala)
c.2699A>C (p.Glu900Ala)
c.3143A>C (p.Glu1048Ala)
9g.135786228A>GCA375491501KCNT1c.3209A>G (p.Glu1070Gly)
c.3050A>G (p.Glu1017Gly)
c.2957A>G (p.Glu986Gly)
c.2966A>G (p.Glu989Gly)
c.3110A>G (p.Glu1037Gly)
c.*2819A>G (n.*2819A>G)
c.3092A>G (p.Glu1031Gly)
c.3131A>G (p.Glu1044Gly)
c.3146A>G (p.Glu1049Gly)
n.3894A>G
c.3152A>G (p.Glu1051Gly)
c.3074A>G (p.Glu1025Gly)
c.3044A>G (p.Glu1015Gly)
c.3344A>G (p.Glu1115Gly)
c.3353A>G (p.Glu1118Gly)
c.2699A>G (p.Glu900Gly)
c.3143A>G (p.Glu1048Gly)
 gnomAD v4
9g.135786228A>TCA375491500KCNT1c.3209A>T (p.Glu1070Val)
c.3050A>T (p.Glu1017Val)
c.2957A>T (p.Glu986Val)
c.2966A>T (p.Glu989Val)
c.3110A>T (p.Glu1037Val)
c.*2819A>T (n.*2819A>T)
c.3092A>T (p.Glu1031Val)
c.3131A>T (p.Glu1044Val)
c.3146A>T (p.Glu1049Val)
n.3894A>T
c.3152A>T (p.Glu1051Val)
c.3074A>T (p.Glu1025Val)
c.3044A>T (p.Glu1015Val)
c.3344A>T (p.Glu1115Val)
c.3353A>T (p.Glu1118Val)
c.2699A>T (p.Glu900Val)
c.3143A>T (p.Glu1048Val)
9g.135786229G>ACA467821157KCNT1c.3210G>A (p.Glu1070=)
c.3051G>A (p.Glu1017=)
c.2958G>A (p.Glu986=)
c.2967G>A (p.Glu989=)
c.3111G>A (p.Glu1037=)
c.*2820G>A (n.*2820G>A)
c.3093G>A (p.Glu1031=)
c.3132G>A (p.Glu1044=)
c.3147G>A (p.Glu1049=)
n.3895G>A
c.3153G>A (p.Glu1051=)
c.3075G>A (p.Glu1025=)
c.3045G>A (p.Glu1015=)
c.3345G>A (p.Glu1115=)
c.3354G>A (p.Glu1118=)
c.2700G>A (p.Glu900=)
c.3144G>A (p.Glu1048=)
 dbSNP
9g.135786229G>CCA375491502KCNT1c.3210G>C (p.Glu1070Asp)
c.3051G>C (p.Glu1017Asp)
c.2958G>C (p.Glu986Asp)
c.2967G>C (p.Glu989Asp)
c.3111G>C (p.Glu1037Asp)
c.*2820G>C (n.*2820G>C)
c.3093G>C (p.Glu1031Asp)
c.3132G>C (p.Glu1044Asp)
c.3147G>C (p.Glu1049Asp)
n.3895G>C
c.3153G>C (p.Glu1051Asp)
c.3075G>C (p.Glu1025Asp)
c.3045G>C (p.Glu1015Asp)
c.3345G>C (p.Glu1115Asp)
c.3354G>C (p.Glu1118Asp)
c.2700G>C (p.Glu900Asp)
c.3144G>C (p.Glu1048Asp)
9g.135786229G=CA1883887476KCNT1c.3210G= (p.Glu1070=)
c.3051G= (p.Glu1017=)
c.2958G= (p.Glu986=)
c.2967G= (p.Glu989=)
c.3111G= (p.Glu1037=)
c.*2820G= (n.*2820G=)
c.3093G= (p.Glu1031=)
c.3132G= (p.Glu1044=)
c.3147G= (p.Glu1049=)
n.3895G=
c.3153G= (p.Glu1051=)
c.3075G= (p.Glu1025=)
c.3045G= (p.Glu1015=)
c.3345G= (p.Glu1115=)
c.3354G= (p.Glu1118=)
c.2700G= (p.Glu900=)
c.3144G= (p.Glu1048=)
9g.135786229G>TCA375491503KCNT1c.3210G>T (p.Glu1070Asp)
c.3051G>T (p.Glu1017Asp)
c.2958G>T (p.Glu986Asp)
c.2967G>T (p.Glu989Asp)
c.3111G>T (p.Glu1037Asp)
c.*2820G>T (n.*2820G>T)
c.3093G>T (p.Glu1031Asp)
c.3132G>T (p.Glu1044Asp)
c.3147G>T (p.Glu1049Asp)
n.3895G>T
c.3153G>T (p.Glu1051Asp)
c.3075G>T (p.Glu1025Asp)
c.3045G>T (p.Glu1015Asp)
c.3345G>T (p.Glu1115Asp)
c.3354G>T (p.Glu1118Asp)
c.2700G>T (p.Glu900Asp)
c.3144G>T (p.Glu1048Asp)
9g.135786230G>ACA375491504KCNT1c.3211G>A (p.Asp1071Asn)
c.3052G>A (p.Asp1018Asn)
c.2959G>A (p.Asp987Asn)
c.2968G>A (p.Asp990Asn)
c.3112G>A (p.Asp1038Asn)
c.*2821G>A (n.*2821G>A)
c.3094G>A (p.Asp1032Asn)
c.3133G>A (p.Asp1045Asn)
c.3148G>A (p.Asp1050Asn)
n.3896G>A
c.3154G>A (p.Asp1052Asn)
c.3076G>A (p.Asp1026Asn)
c.3046G>A (p.Asp1016Asn)
c.3346G>A (p.Asp1116Asn)
c.3355G>A (p.Asp1119Asn)
c.2701G>A (p.Asp901Asn)
c.3145G>A (p.Asp1049Asn)
 ClinVar gnomAD v4
9g.135786230G>CCA375491505KCNT1c.3211G>C (p.Asp1071His)
c.3052G>C (p.Asp1018His)
c.2959G>C (p.Asp987His)
c.2968G>C (p.Asp990His)
c.3112G>C (p.Asp1038His)
c.*2821G>C (n.*2821G>C)
c.3094G>C (p.Asp1032His)
c.3133G>C (p.Asp1045His)
c.3148G>C (p.Asp1050His)
n.3896G>C
c.3154G>C (p.Asp1052His)
c.3076G>C (p.Asp1026His)
c.3046G>C (p.Asp1016His)
c.3346G>C (p.Asp1116His)
c.3355G>C (p.Asp1119His)
c.2701G>C (p.Asp901His)
c.3145G>C (p.Asp1049His)
9g.135786230G>TCA375491506KCNT1c.3211G>T (p.Asp1071Tyr)
c.3052G>T (p.Asp1018Tyr)
c.2959G>T (p.Asp987Tyr)
c.2968G>T (p.Asp990Tyr)
c.3112G>T (p.Asp1038Tyr)
c.*2821G>T (n.*2821G>T)
c.3094G>T (p.Asp1032Tyr)
c.3133G>T (p.Asp1045Tyr)
c.3148G>T (p.Asp1050Tyr)
n.3896G>T
c.3154G>T (p.Asp1052Tyr)
c.3076G>T (p.Asp1026Tyr)
c.3046G>T (p.Asp1016Tyr)
c.3346G>T (p.Asp1116Tyr)
c.3355G>T (p.Asp1119Tyr)
c.2701G>T (p.Asp901Tyr)
c.3145G>T (p.Asp1049Tyr)
9g.135786231A>CCA375491507KCNT1c.3212A>C (p.Asp1071Ala)
c.3053A>C (p.Asp1018Ala)
c.2960A>C (p.Asp987Ala)
c.2969A>C (p.Asp990Ala)
c.3113A>C (p.Asp1038Ala)
c.*2822A>C (n.*2822A>C)
c.3095A>C (p.Asp1032Ala)
c.3134A>C (p.Asp1045Ala)
c.3149A>C (p.Asp1050Ala)
n.3897A>C
c.3155A>C (p.Asp1052Ala)
c.3077A>C (p.Asp1026Ala)
c.3047A>C (p.Asp1016Ala)
c.3347A>C (p.Asp1116Ala)
c.3356A>C (p.Asp1119Ala)
c.2702A>C (p.Asp901Ala)
c.3146A>C (p.Asp1049Ala)
9g.135786231A>GCA375491508KCNT1c.3212A>G (p.Asp1071Gly)
c.3053A>G (p.Asp1018Gly)
c.2960A>G (p.Asp987Gly)
c.2969A>G (p.Asp990Gly)
c.3113A>G (p.Asp1038Gly)
c.*2822A>G (n.*2822A>G)
c.3095A>G (p.Asp1032Gly)
c.3134A>G (p.Asp1045Gly)
c.3149A>G (p.Asp1050Gly)
n.3897A>G
c.3155A>G (p.Asp1052Gly)
c.3077A>G (p.Asp1026Gly)
c.3047A>G (p.Asp1016Gly)
c.3347A>G (p.Asp1116Gly)
c.3356A>G (p.Asp1119Gly)
c.2702A>G (p.Asp901Gly)
c.3146A>G (p.Asp1049Gly)
9g.135786231A>TCA375491509KCNT1c.3212A>T (p.Asp1071Val)
c.3053A>T (p.Asp1018Val)
c.2960A>T (p.Asp987Val)
c.2969A>T (p.Asp990Val)
c.3113A>T (p.Asp1038Val)
c.*2822A>T (n.*2822A>T)
c.3095A>T (p.Asp1032Val)
c.3134A>T (p.Asp1045Val)
c.3149A>T (p.Asp1050Val)
n.3897A>T
c.3155A>T (p.Asp1052Val)
c.3077A>T (p.Asp1026Val)
c.3047A>T (p.Asp1016Val)
c.3347A>T (p.Asp1116Val)
c.3356A>T (p.Asp1119Val)
c.2702A>T (p.Asp901Val)
c.3146A>T (p.Asp1049Val)
9g.135786232C>ACA375491510KCNT1c.3213C>A (p.Asp1071Glu)
c.3054C>A (p.Asp1018Glu)
c.2961C>A (p.Asp987Glu)
c.2970C>A (p.Asp990Glu)
c.3114C>A (p.Asp1038Glu)
c.*2823C>A (n.*2823C>A)
c.3096C>A (p.Asp1032Glu)
c.3135C>A (p.Asp1045Glu)
c.3150C>A (p.Asp1050Glu)
n.3898C>A
c.3156C>A (p.Asp1052Glu)
c.3078C>A (p.Asp1026Glu)
c.3048C>A (p.Asp1016Glu)
c.3348C>A (p.Asp1116Glu)
c.3357C>A (p.Asp1119Glu)
c.2703C>A (p.Asp901Glu)
c.3147C>A (p.Asp1049Glu)
9g.135786232C>GCA375491511KCNT1c.3213C>G (p.Asp1071Glu)
c.3054C>G (p.Asp1018Glu)
c.2961C>G (p.Asp987Glu)
c.2970C>G (p.Asp990Glu)
c.3114C>G (p.Asp1038Glu)
c.*2823C>G (n.*2823C>G)
c.3096C>G (p.Asp1032Glu)
c.3135C>G (p.Asp1045Glu)
c.3150C>G (p.Asp1050Glu)
n.3898C>G
c.3156C>G (p.Asp1052Glu)
c.3078C>G (p.Asp1026Glu)
c.3048C>G (p.Asp1016Glu)
c.3348C>G (p.Asp1116Glu)
c.3357C>G (p.Asp1119Glu)
c.2703C>G (p.Asp901Glu)
c.3147C>G (p.Asp1049Glu)
9g.135786232C>TCA467821158KCNT1c.3213C>T (p.Asp1071=)
c.3054C>T (p.Asp1018=)
c.2961C>T (p.Asp987=)
c.2970C>T (p.Asp990=)
c.3114C>T (p.Asp1038=)
c.*2823C>T (n.*2823C>T)
c.3096C>T (p.Asp1032=)
c.3135C>T (p.Asp1045=)
c.3150C>T (p.Asp1050=)
n.3898C>T
c.3156C>T (p.Asp1052=)
c.3078C>T (p.Asp1026=)
c.3048C>T (p.Asp1016=)
c.3348C>T (p.Asp1116=)
c.3357C>T (p.Asp1119=)
c.2703C>T (p.Asp901=)
c.3147C>T (p.Asp1049=)
9g.135786233A>CCA375491514KCNT1c.3214A>C (p.Thr1072Pro)
c.3055A>C (p.Thr1019Pro)
c.2962A>C (p.Thr988Pro)
c.2971A>C (p.Thr991Pro)
c.3115A>C (p.Thr1039Pro)
c.*2824A>C (n.*2824A>C)
c.3097A>C (p.Thr1033Pro)
c.3136A>C (p.Thr1046Pro)
c.3151A>C (p.Thr1051Pro)
n.3899A>C
c.3157A>C (p.Thr1053Pro)
c.3079A>C (p.Thr1027Pro)
c.3049A>C (p.Thr1017Pro)
c.3349A>C (p.Thr1117Pro)
c.3358A>C (p.Thr1120Pro)
c.2704A>C (p.Thr902Pro)
c.3148A>C (p.Thr1050Pro)
9g.135786233A>GCA375491513KCNT1c.3214A>G (p.Thr1072Ala)
c.3055A>G (p.Thr1019Ala)
c.2962A>G (p.Thr988Ala)
c.2971A>G (p.Thr991Ala)
c.3115A>G (p.Thr1039Ala)
c.*2824A>G (n.*2824A>G)
c.3097A>G (p.Thr1033Ala)
c.3136A>G (p.Thr1046Ala)
c.3151A>G (p.Thr1051Ala)
n.3899A>G
c.3157A>G (p.Thr1053Ala)
c.3079A>G (p.Thr1027Ala)
c.3049A>G (p.Thr1017Ala)
c.3349A>G (p.Thr1117Ala)
c.3358A>G (p.Thr1120Ala)
c.2704A>G (p.Thr902Ala)
c.3148A>G (p.Thr1050Ala)
9g.135786233A>TCA375491512KCNT1c.3214A>T (p.Thr1072Ser)
c.3055A>T (p.Thr1019Ser)
c.2962A>T (p.Thr988Ser)
c.2971A>T (p.Thr991Ser)
c.3115A>T (p.Thr1039Ser)
c.*2824A>T (n.*2824A>T)
c.3097A>T (p.Thr1033Ser)
c.3136A>T (p.Thr1046Ser)
c.3151A>T (p.Thr1051Ser)
n.3899A>T
c.3157A>T (p.Thr1053Ser)
c.3079A>T (p.Thr1027Ser)
c.3049A>T (p.Thr1017Ser)
c.3349A>T (p.Thr1117Ser)
c.3358A>T (p.Thr1120Ser)
c.2704A>T (p.Thr902Ser)
c.3148A>T (p.Thr1050Ser)
 COSMIC COSMIC
9g.135786234C>ACA375491515KCNT1c.3215C>A (p.Thr1072Lys)
c.3056C>A (p.Thr1019Lys)
c.2963C>A (p.Thr988Lys)
c.2972C>A (p.Thr991Lys)
c.3116C>A (p.Thr1039Lys)
c.*2825C>A (n.*2825C>A)
c.3098C>A (p.Thr1033Lys)
c.3137C>A (p.Thr1046Lys)
c.3152C>A (p.Thr1051Lys)
n.3900C>A
c.3158C>A (p.Thr1053Lys)
c.3080C>A (p.Thr1027Lys)
c.3050C>A (p.Thr1017Lys)
c.3350C>A (p.Thr1117Lys)
c.3359C>A (p.Thr1120Lys)
c.2705C>A (p.Thr902Lys)
c.3149C>A (p.Thr1050Lys)
9g.135786234C>GCA375491517KCNT1c.3215C>G (p.Thr1072Arg)
c.3056C>G (p.Thr1019Arg)
c.2963C>G (p.Thr988Arg)
c.2972C>G (p.Thr991Arg)
c.3116C>G (p.Thr1039Arg)
c.*2825C>G (n.*2825C>G)
c.3098C>G (p.Thr1033Arg)
c.3137C>G (p.Thr1046Arg)
c.3152C>G (p.Thr1051Arg)
n.3900C>G
c.3158C>G (p.Thr1053Arg)
c.3080C>G (p.Thr1027Arg)
c.3050C>G (p.Thr1017Arg)
c.3350C>G (p.Thr1117Arg)
c.3359C>G (p.Thr1120Arg)
c.2705C>G (p.Thr902Arg)
c.3149C>G (p.Thr1050Arg)
9g.135786234C>TCA375491516KCNT1c.3215C>T (p.Thr1072Ile)
c.3056C>T (p.Thr1019Ile)
c.2963C>T (p.Thr988Ile)
c.2972C>T (p.Thr991Ile)
c.3116C>T (p.Thr1039Ile)
c.*2825C>T (n.*2825C>T)
c.3098C>T (p.Thr1033Ile)
c.3137C>T (p.Thr1046Ile)
c.3152C>T (p.Thr1051Ile)
n.3900C>T
c.3158C>T (p.Thr1053Ile)
c.3080C>T (p.Thr1027Ile)
c.3050C>T (p.Thr1017Ile)
c.3350C>T (p.Thr1117Ile)
c.3359C>T (p.Thr1120Ile)
c.2705C>T (p.Thr902Ile)
c.3149C>T (p.Thr1050Ile)
 gnomAD v4
9g.135786235A=CA1883887477KCNT1c.3216A= (p.Thr1072=)
c.3057A= (p.Thr1019=)
c.2964A= (p.Thr988=)
c.2973A= (p.Thr991=)
c.3117A= (p.Thr1039=)
c.*2826A= (n.*2826A=)
c.3099A= (p.Thr1033=)
c.3138A= (p.Thr1046=)
c.3153A= (p.Thr1051=)
n.3901A=
c.3159A= (p.Thr1053=)
c.3081A= (p.Thr1027=)
c.3051A= (p.Thr1017=)
c.3351A= (p.Thr1117=)
c.3360A= (p.Thr1120=)
c.2706A= (p.Thr902=)
c.3150A= (p.Thr1050=)
9g.135786235A>CCA467821161KCNT1c.3216A>C (p.Thr1072=)
c.3057A>C (p.Thr1019=)
c.2964A>C (p.Thr988=)
c.2973A>C (p.Thr991=)
c.3117A>C (p.Thr1039=)
c.*2826A>C (n.*2826A>C)
c.3099A>C (p.Thr1033=)
c.3138A>C (p.Thr1046=)
c.3153A>C (p.Thr1051=)
n.3901A>C
c.3159A>C (p.Thr1053=)
c.3081A>C (p.Thr1027=)
c.3051A>C (p.Thr1017=)
c.3351A>C (p.Thr1117=)
c.3360A>C (p.Thr1120=)
c.2706A>C (p.Thr902=)
c.3150A>C (p.Thr1050=)
9g.135786235A>GCA467821160KCNT1c.3216A>G (p.Thr1072=)
c.3057A>G (p.Thr1019=)
c.2964A>G (p.Thr988=)
c.2973A>G (p.Thr991=)
c.3117A>G (p.Thr1039=)
c.*2826A>G (n.*2826A>G)
c.3099A>G (p.Thr1033=)
c.3138A>G (p.Thr1046=)
c.3153A>G (p.Thr1051=)
n.3901A>G
c.3159A>G (p.Thr1053=)
c.3081A>G (p.Thr1027=)
c.3051A>G (p.Thr1017=)
c.3351A>G (p.Thr1117=)
c.3360A>G (p.Thr1120=)
c.2706A>G (p.Thr902=)
c.3150A>G (p.Thr1050=)
 dbSNP gnomAD v3 gnomAD v4
9g.135786235A>TCA467821159KCNT1c.3216A>T (p.Thr1072=)
c.3057A>T (p.Thr1019=)
c.2964A>T (p.Thr988=)
c.2973A>T (p.Thr991=)
c.3117A>T (p.Thr1039=)
c.*2826A>T (n.*2826A>T)
c.3099A>T (p.Thr1033=)
c.3138A>T (p.Thr1046=)
c.3153A>T (p.Thr1051=)
n.3901A>T
c.3159A>T (p.Thr1053=)
c.3081A>T (p.Thr1027=)
c.3051A>T (p.Thr1017=)
c.3351A>T (p.Thr1117=)
c.3360A>T (p.Thr1120=)
c.2706A>T (p.Thr902=)
c.3150A>T (p.Thr1050=)
9g.135786236C>ACA5327749KCNT1c.3217C>A (p.Arg1073=)
c.3058C>A (p.Arg1020=)
c.2965C>A (p.Arg989=)
c.2974C>A (p.Arg992=)
c.3118C>A (p.Arg1040=)
c.*2827C>A (n.*2827C>A)
c.3100C>A (p.Arg1034=)
c.3139C>A (p.Arg1047=)
c.3154C>A (p.Arg1052=)
n.3902C>A
c.3160C>A (p.Arg1054=)
c.3082C>A (p.Arg1028=)
c.3052C>A (p.Arg1018=)
c.3352C>A (p.Arg1118=)
c.3361C>A (p.Arg1121=)
c.2707C>A (p.Arg903=)
c.3151C>A (p.Arg1051=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786236C=CA1883887482KCNT1c.3217C= (p.Arg1073=)
c.3058C= (p.Arg1020=)
c.2965C= (p.Arg989=)
c.2974C= (p.Arg992=)
c.3118C= (p.Arg1040=)
c.*2827C= (n.*2827C=)
c.3100C= (p.Arg1034=)
c.3139C= (p.Arg1047=)
c.3154C= (p.Arg1052=)
n.3902C=
c.3160C= (p.Arg1054=)
c.3082C= (p.Arg1028=)
c.3052C= (p.Arg1018=)
c.3352C= (p.Arg1118=)
c.3361C= (p.Arg1121=)
c.2707C= (p.Arg903=)
c.3151C= (p.Arg1051=)
9g.135786236C>GCA375491518KCNT1c.3217C>G (p.Arg1073Gly)
c.3058C>G (p.Arg1020Gly)
c.2965C>G (p.Arg989Gly)
c.2974C>G (p.Arg992Gly)
c.3118C>G (p.Arg1040Gly)
c.*2827C>G (n.*2827C>G)
c.3100C>G (p.Arg1034Gly)
c.3139C>G (p.Arg1047Gly)
c.3154C>G (p.Arg1052Gly)
n.3902C>G
c.3160C>G (p.Arg1054Gly)
c.3082C>G (p.Arg1028Gly)
c.3052C>G (p.Arg1018Gly)
c.3352C>G (p.Arg1118Gly)
c.3361C>G (p.Arg1121Gly)
c.2707C>G (p.Arg903Gly)
c.3151C>G (p.Arg1051Gly)
9g.135786236C>TCA5327750KCNT1c.3217C>T (p.Arg1073Trp)
c.3058C>T (p.Arg1020Trp)
c.2965C>T (p.Arg989Trp)
c.2974C>T (p.Arg992Trp)
c.3118C>T (p.Arg1040Trp)
c.*2827C>T (n.*2827C>T)
c.3100C>T (p.Arg1034Trp)
c.3139C>T (p.Arg1047Trp)
c.3154C>T (p.Arg1052Trp)
n.3902C>T
c.3160C>T (p.Arg1054Trp)
c.3082C>T (p.Arg1028Trp)
c.3052C>T (p.Arg1018Trp)
c.3352C>T (p.Arg1118Trp)
c.3361C>T (p.Arg1121Trp)
c.2707C>T (p.Arg903Trp)
c.3151C>T (p.Arg1051Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
9g.135786237G>ACA5327751KCNT1c.3218G>A (p.Arg1073Gln)
c.3059G>A (p.Arg1020Gln)
c.2966G>A (p.Arg989Gln)
c.2975G>A (p.Arg992Gln)
c.3119G>A (p.Arg1040Gln)
c.*2828G>A (n.*2828G>A)
c.3101G>A (p.Arg1034Gln)
c.3140G>A (p.Arg1047Gln)
c.3155G>A (p.Arg1052Gln)
n.3903G>A
c.3161G>A (p.Arg1054Gln)
c.3083G>A (p.Arg1028Gln)
c.3053G>A (p.Arg1018Gln)
c.3353G>A (p.Arg1118Gln)
c.3362G>A (p.Arg1121Gln)
c.2708G>A (p.Arg903Gln)
c.3152G>A (p.Arg1051Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786237G>CCA375491519KCNT1c.3218G>C (p.Arg1073Pro)
c.3059G>C (p.Arg1020Pro)
c.2966G>C (p.Arg989Pro)
c.2975G>C (p.Arg992Pro)
c.3119G>C (p.Arg1040Pro)
c.*2828G>C (n.*2828G>C)
c.3101G>C (p.Arg1034Pro)
c.3140G>C (p.Arg1047Pro)
c.3155G>C (p.Arg1052Pro)
n.3903G>C
c.3161G>C (p.Arg1054Pro)
c.3083G>C (p.Arg1028Pro)
c.3053G>C (p.Arg1018Pro)
c.3353G>C (p.Arg1118Pro)
c.3362G>C (p.Arg1121Pro)
c.2708G>C (p.Arg903Pro)
c.3152G>C (p.Arg1051Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.135786237G=CA1883887494KCNT1c.3218G= (p.Arg1073=)
c.3059G= (p.Arg1020=)
c.2966G= (p.Arg989=)
c.2975G= (p.Arg992=)
c.3119G= (p.Arg1040=)
c.*2828G= (n.*2828G=)
c.3101G= (p.Arg1034=)
c.3140G= (p.Arg1047=)
c.3155G= (p.Arg1052=)
n.3903G=
c.3161G= (p.Arg1054=)
c.3083G= (p.Arg1028=)
c.3053G= (p.Arg1018=)
c.3353G= (p.Arg1118=)
c.3362G= (p.Arg1121=)
c.2708G= (p.Arg903=)
c.3152G= (p.Arg1051=)
9g.135786237G>TCA375491520KCNT1c.3218G>T (p.Arg1073Leu)
c.3059G>T (p.Arg1020Leu)
c.2966G>T (p.Arg989Leu)
c.2975G>T (p.Arg992Leu)
c.3119G>T (p.Arg1040Leu)
c.*2828G>T (n.*2828G>T)
c.3101G>T (p.Arg1034Leu)
c.3140G>T (p.Arg1047Leu)
c.3155G>T (p.Arg1052Leu)
n.3903G>T
c.3161G>T (p.Arg1054Leu)
c.3083G>T (p.Arg1028Leu)
c.3053G>T (p.Arg1018Leu)
c.3353G>T (p.Arg1118Leu)
c.3362G>T (p.Arg1121Leu)
c.2708G>T (p.Arg903Leu)
c.3152G>T (p.Arg1051Leu)
 gnomAD v4
9g.135786237_135786239delCA2692525286KCNT1c.3218_3220del (p.Arg1073_Glu1074delinsGln)
c.3059_3061del (p.Arg1020_Glu1021delinsGln)
c.2966_2968del (p.Arg989_Glu990delinsGln)
c.2975_2977del (p.Arg992_Glu993delinsGln)
c.3119_3121del (p.Arg1040_Glu1041delinsGln)
c.*2828_*2830del (n.*2828_*2830del)
c.3101_3103del (p.Arg1034_Glu1035delinsGln)
c.3140_3142del (p.Arg1047_Glu1048delinsGln)
c.3155_3157del (p.Arg1052_Glu1053delinsGln)
n.3903_3905del
c.3161_3163del (p.Arg1054_Glu1055delinsGln)
c.3083_3085del (p.Arg1028_Glu1029delinsGln)
c.3053_3055del (p.Arg1018_Glu1019delinsGln)
c.3353_3355del (p.Arg1118_Glu1119delinsGln)
c.3362_3364del (p.Arg1121_Glu1122delinsGln)
c.2708_2710del (p.Arg903_Glu904delinsGln)
c.3152_3154del (p.Arg1051_Glu1052delinsGln)
 gnomAD v4
9g.135786238G>ACA467821162KCNT1c.3219G>A (p.Arg1073=)
c.3060G>A (p.Arg1020=)
c.2967G>A (p.Arg989=)
c.2976G>A (p.Arg992=)
c.3120G>A (p.Arg1040=)
c.*2829G>A (n.*2829G>A)
c.3102G>A (p.Arg1034=)
c.3141G>A (p.Arg1047=)
c.3156G>A (p.Arg1052=)
n.3904G>A
c.3162G>A (p.Arg1054=)
c.3084G>A (p.Arg1028=)
c.3054G>A (p.Arg1018=)
c.3354G>A (p.Arg1118=)
c.3363G>A (p.Arg1121=)
c.2709G>A (p.Arg903=)
c.3153G>A (p.Arg1051=)
 ClinVar dbSNP gnomAD v2
9g.135786238G>CCA467821163KCNT1c.3219G>C (p.Arg1073=)
c.3060G>C (p.Arg1020=)
c.2967G>C (p.Arg989=)
c.2976G>C (p.Arg992=)
c.3120G>C (p.Arg1040=)
c.*2829G>C (n.*2829G>C)
c.3102G>C (p.Arg1034=)
c.3141G>C (p.Arg1047=)
c.3156G>C (p.Arg1052=)
n.3904G>C
c.3162G>C (p.Arg1054=)
c.3084G>C (p.Arg1028=)
c.3054G>C (p.Arg1018=)
c.3354G>C (p.Arg1118=)
c.3363G>C (p.Arg1121=)
c.2709G>C (p.Arg903=)
c.3153G>C (p.Arg1051=)
9g.135786238G=CA1883887503KCNT1c.3219G= (p.Arg1073=)
c.3060G= (p.Arg1020=)
c.2967G= (p.Arg989=)
c.2976G= (p.Arg992=)
c.3120G= (p.Arg1040=)
c.*2829G= (n.*2829G=)
c.3102G= (p.Arg1034=)
c.3141G= (p.Arg1047=)
c.3156G= (p.Arg1052=)
n.3904G=
c.3162G= (p.Arg1054=)
c.3084G= (p.Arg1028=)
c.3054G= (p.Arg1018=)
c.3354G= (p.Arg1118=)
c.3363G= (p.Arg1121=)
c.2709G= (p.Arg903=)
c.3153G= (p.Arg1051=)
9g.135786238G>TCA467821164KCNT1c.3219G>T (p.Arg1073=)
c.3060G>T (p.Arg1020=)
c.2967G>T (p.Arg989=)
c.2976G>T (p.Arg992=)
c.3120G>T (p.Arg1040=)
c.*2829G>T (n.*2829G>T)
c.3102G>T (p.Arg1034=)
c.3141G>T (p.Arg1047=)
c.3156G>T (p.Arg1052=)
n.3904G>T
c.3162G>T (p.Arg1054=)
c.3084G>T (p.Arg1028=)
c.3054G>T (p.Arg1018=)
c.3354G>T (p.Arg1118=)
c.3363G>T (p.Arg1121=)
c.2709G>T (p.Arg903=)
c.3153G>T (p.Arg1051=)
9g.135786239G>ACA375491521KCNT1c.3220G>A (p.Glu1074Lys)
c.3061G>A (p.Glu1021Lys)
c.2968G>A (p.Glu990Lys)
c.2977G>A (p.Glu993Lys)
c.3121G>A (p.Glu1041Lys)
c.*2830G>A (n.*2830G>A)
c.3103G>A (p.Glu1035Lys)
c.3142G>A (p.Glu1048Lys)
c.3157G>A (p.Glu1053Lys)
n.3905G>A
c.3163G>A (p.Glu1055Lys)
c.3085G>A (p.Glu1029Lys)
c.3055G>A (p.Glu1019Lys)
c.3355G>A (p.Glu1119Lys)
c.3364G>A (p.Glu1122Lys)
c.2710G>A (p.Glu904Lys)
c.3154G>A (p.Glu1052Lys)
9g.135786239G>CCA375491522KCNT1c.3220G>C (p.Glu1074Gln)
c.3061G>C (p.Glu1021Gln)
c.2968G>C (p.Glu990Gln)
c.2977G>C (p.Glu993Gln)
c.3121G>C (p.Glu1041Gln)
c.*2830G>C (n.*2830G>C)
c.3103G>C (p.Glu1035Gln)
c.3142G>C (p.Glu1048Gln)
c.3157G>C (p.Glu1053Gln)
n.3905G>C
c.3163G>C (p.Glu1055Gln)
c.3085G>C (p.Glu1029Gln)
c.3055G>C (p.Glu1019Gln)
c.3355G>C (p.Glu1119Gln)
c.3364G>C (p.Glu1122Gln)
c.2710G>C (p.Glu904Gln)
c.3154G>C (p.Glu1052Gln)
9g.135786239G>TCA375491523KCNT1c.3220G>T (p.Glu1074Ter)
c.3061G>T (p.Glu1021Ter)
c.2968G>T (p.Glu990Ter)
c.2977G>T (p.Glu993Ter)
c.3121G>T (p.Glu1041Ter)
c.*2830G>T (n.*2830G>T)
c.3103G>T (p.Glu1035Ter)
c.3142G>T (p.Glu1048Ter)
c.3157G>T (p.Glu1053Ter)
n.3905G>T
c.3163G>T (p.Glu1055Ter)
c.3085G>T (p.Glu1029Ter)
c.3055G>T (p.Glu1019Ter)
c.3355G>T (p.Glu1119Ter)
c.3364G>T (p.Glu1122Ter)
c.2710G>T (p.Glu904Ter)
c.3154G>T (p.Glu1052Ter)
9g.135786240A>CCA375491524KCNT1c.3221A>C (p.Glu1074Ala)
c.3062A>C (p.Glu1021Ala)
c.2969A>C (p.Glu990Ala)
c.2978A>C (p.Glu993Ala)
c.3122A>C (p.Glu1041Ala)
c.*2831A>C (n.*2831A>C)
c.3104A>C (p.Glu1035Ala)
c.3143A>C (p.Glu1048Ala)
c.3158A>C (p.Glu1053Ala)
n.3906A>C
c.3164A>C (p.Glu1055Ala)
c.3086A>C (p.Glu1029Ala)
c.3056A>C (p.Glu1019Ala)
c.3356A>C (p.Glu1119Ala)
c.3365A>C (p.Glu1122Ala)
c.2711A>C (p.Glu904Ala)
c.3155A>C (p.Glu1052Ala)
9g.135786240A>GCA375491525KCNT1c.3221A>G (p.Glu1074Gly)
c.3062A>G (p.Glu1021Gly)
c.2969A>G (p.Glu990Gly)
c.2978A>G (p.Glu993Gly)
c.3122A>G (p.Glu1041Gly)
c.*2831A>G (n.*2831A>G)
c.3104A>G (p.Glu1035Gly)
c.3143A>G (p.Glu1048Gly)
c.3158A>G (p.Glu1053Gly)
n.3906A>G
c.3164A>G (p.Glu1055Gly)
c.3086A>G (p.Glu1029Gly)
c.3056A>G (p.Glu1019Gly)
c.3356A>G (p.Glu1119Gly)
c.3365A>G (p.Glu1122Gly)
c.2711A>G (p.Glu904Gly)
c.3155A>G (p.Glu1052Gly)
9g.135786240A>TCA375491526KCNT1c.3221A>T (p.Glu1074Val)
c.3062A>T (p.Glu1021Val)
c.2969A>T (p.Glu990Val)
c.2978A>T (p.Glu993Val)
c.3122A>T (p.Glu1041Val)
c.*2831A>T (n.*2831A>T)
c.3104A>T (p.Glu1035Val)
c.3143A>T (p.Glu1048Val)
c.3158A>T (p.Glu1053Val)
n.3906A>T
c.3164A>T (p.Glu1055Val)
c.3086A>T (p.Glu1029Val)
c.3056A>T (p.Glu1019Val)
c.3356A>T (p.Glu1119Val)
c.3365A>T (p.Glu1122Val)
c.2711A>T (p.Glu904Val)
c.3155A>T (p.Glu1052Val)
9g.135786240_135786241insGTCCTCACCA2692525296KCNT1c.3221_3222insGTCCTCAC (p.Val1075SerfsTer4)
c.3062_3063insGTCCTCAC (p.Val1022SerfsTer4)
c.2969_2970insGTCCTCAC (p.Val991SerfsTer4)
c.2978_2979insGTCCTCAC (p.Val994SerfsTer4)
c.3122_3123insGTCCTCAC (p.Val1042SerfsTer4)
c.*2831_*2832insGTCCTCAC (n.*2831_*2832insGTCCTCAC)
c.3104_3105insGTCCTCAC (p.Val1036SerfsTer4)
c.3143_3144insGTCCTCAC (p.Val1049SerfsTer4)
c.3158_3159insGTCCTCAC (p.Val1054SerfsTer4)
n.3906_3907insGTCCTCAC
c.3164_3165insGTCCTCAC (p.Val1056SerfsTer4)
c.3086_3087insGTCCTCAC (p.Val1030SerfsTer4)
c.3056_3057insGTCCTCAC (p.Val1020SerfsTer4)
c.3356_3357insGTCCTCAC (p.Val1120SerfsTer4)
c.3365_3366insGTCCTCAC (p.Val1123SerfsTer4)
c.2711_2712insGTCCTCAC (p.Val905SerfsTer4)
c.3155_3156insGTCCTCAC (p.Val1053SerfsTer4)
 gnomAD v4
9g.135786241A>CCA375491528KCNT1c.3222A>C (p.Glu1074Asp)
c.3063A>C (p.Glu1021Asp)
c.2970A>C (p.Glu990Asp)
c.2979A>C (p.Glu993Asp)
c.3123A>C (p.Glu1041Asp)
c.*2832A>C (n.*2832A>C)
c.3105A>C (p.Glu1035Asp)
c.3144A>C (p.Glu1048Asp)
c.3159A>C (p.Glu1053Asp)
n.3907A>C
c.3165A>C (p.Glu1055Asp)
c.3087A>C (p.Glu1029Asp)
c.3057A>C (p.Glu1019Asp)
c.3357A>C (p.Glu1119Asp)
c.3366A>C (p.Glu1122Asp)
c.2712A>C (p.Glu904Asp)
c.3156A>C (p.Glu1052Asp)
9g.135786241A>GCA467821165KCNT1c.3222A>G (p.Glu1074=)
c.3063A>G (p.Glu1021=)
c.2970A>G (p.Glu990=)
c.2979A>G (p.Glu993=)
c.3123A>G (p.Glu1041=)
c.*2832A>G (n.*2832A>G)
c.3105A>G (p.Glu1035=)
c.3144A>G (p.Glu1048=)
c.3159A>G (p.Glu1053=)
n.3907A>G
c.3165A>G (p.Glu1055=)
c.3087A>G (p.Glu1029=)
c.3057A>G (p.Glu1019=)
c.3357A>G (p.Glu1119=)
c.3366A>G (p.Glu1122=)
c.2712A>G (p.Glu904=)
c.3156A>G (p.Glu1052=)
9g.135786241A>TCA375491527KCNT1c.3222A>T (p.Glu1074Asp)
c.3063A>T (p.Glu1021Asp)
c.2970A>T (p.Glu990Asp)
c.2979A>T (p.Glu993Asp)
c.3123A>T (p.Glu1041Asp)
c.*2832A>T (n.*2832A>T)
c.3105A>T (p.Glu1035Asp)
c.3144A>T (p.Glu1048Asp)
c.3159A>T (p.Glu1053Asp)
n.3907A>T
c.3165A>T (p.Glu1055Asp)
c.3087A>T (p.Glu1029Asp)
c.3057A>T (p.Glu1019Asp)
c.3357A>T (p.Glu1119Asp)
c.3366A>T (p.Glu1122Asp)
c.2712A>T (p.Glu904Asp)
c.3156A>T (p.Glu1052Asp)
9g.135786242G>ACA5327752KCNT1c.3223G>A (p.Val1075Met)
c.3064G>A (p.Val1022Met)
c.2971G>A (p.Val991Met)
c.2980G>A (p.Val994Met)
c.3124G>A (p.Val1042Met)
c.*2833G>A (n.*2833G>A)
c.3106G>A (p.Val1036Met)
c.3145G>A (p.Val1049Met)
c.3160G>A (p.Val1054Met)
n.3908G>A
c.3166G>A (p.Val1056Met)
c.3088G>A (p.Val1030Met)
c.3058G>A (p.Val1020Met)
c.3358G>A (p.Val1120Met)
c.3367G>A (p.Val1123Met)
c.2713G>A (p.Val905Met)
c.3157G>A (p.Val1053Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786242G>CCA375491529KCNT1c.3223G>C (p.Val1075Leu)
c.3064G>C (p.Val1022Leu)
c.2971G>C (p.Val991Leu)
c.2980G>C (p.Val994Leu)
c.3124G>C (p.Val1042Leu)
c.*2833G>C (n.*2833G>C)
c.3106G>C (p.Val1036Leu)
c.3145G>C (p.Val1049Leu)
c.3160G>C (p.Val1054Leu)
n.3908G>C
c.3166G>C (p.Val1056Leu)
c.3088G>C (p.Val1030Leu)
c.3058G>C (p.Val1020Leu)
c.3358G>C (p.Val1120Leu)
c.3367G>C (p.Val1123Leu)
c.2713G>C (p.Val905Leu)
c.3157G>C (p.Val1053Leu)
9g.135786242G=CA1883887517KCNT1c.3223G= (p.Val1075=)
c.3064G= (p.Val1022=)
c.2971G= (p.Val991=)
c.2980G= (p.Val994=)
c.3124G= (p.Val1042=)
c.*2833G= (n.*2833G=)
c.3106G= (p.Val1036=)
c.3145G= (p.Val1049=)
c.3160G= (p.Val1054=)
n.3908G=
c.3166G= (p.Val1056=)
c.3088G= (p.Val1030=)
c.3058G= (p.Val1020=)
c.3358G= (p.Val1120=)
c.3367G= (p.Val1123=)
c.2713G= (p.Val905=)
c.3157G= (p.Val1053=)
9g.135786242G>TCA375491530KCNT1c.3223G>T (p.Val1075Leu)
c.3064G>T (p.Val1022Leu)
c.2971G>T (p.Val991Leu)
c.2980G>T (p.Val994Leu)
c.3124G>T (p.Val1042Leu)
c.*2833G>T (n.*2833G>T)
c.3106G>T (p.Val1036Leu)
c.3145G>T (p.Val1049Leu)
c.3160G>T (p.Val1054Leu)
n.3908G>T
c.3166G>T (p.Val1056Leu)
c.3088G>T (p.Val1030Leu)
c.3058G>T (p.Val1020Leu)
c.3358G>T (p.Val1120Leu)
c.3367G>T (p.Val1123Leu)
c.2713G>T (p.Val905Leu)
c.3157G>T (p.Val1053Leu)
9g.135786243T>ACA375491531KCNT1c.3224T>A (p.Val1075Glu)
c.3065T>A (p.Val1022Glu)
c.2972T>A (p.Val991Glu)
c.2981T>A (p.Val994Glu)
c.3125T>A (p.Val1042Glu)
c.*2834T>A (n.*2834T>A)
c.3107T>A (p.Val1036Glu)
c.3146T>A (p.Val1049Glu)
c.3161T>A (p.Val1054Glu)
n.3909T>A
c.3167T>A (p.Val1056Glu)
c.3089T>A (p.Val1030Glu)
c.3059T>A (p.Val1020Glu)
c.3359T>A (p.Val1120Glu)
c.3368T>A (p.Val1123Glu)
c.2714T>A (p.Val905Glu)
c.3158T>A (p.Val1053Glu)
9g.135786243T>CCA375491532KCNT1c.3224T>C (p.Val1075Ala)
c.3065T>C (p.Val1022Ala)
c.2972T>C (p.Val991Ala)
c.2981T>C (p.Val994Ala)
c.3125T>C (p.Val1042Ala)
c.*2834T>C (n.*2834T>C)
c.3107T>C (p.Val1036Ala)
c.3146T>C (p.Val1049Ala)
c.3161T>C (p.Val1054Ala)
n.3909T>C
c.3167T>C (p.Val1056Ala)
c.3089T>C (p.Val1030Ala)
c.3059T>C (p.Val1020Ala)
c.3359T>C (p.Val1120Ala)
c.3368T>C (p.Val1123Ala)
c.2714T>C (p.Val905Ala)
c.3158T>C (p.Val1053Ala)
 dbSNP gnomAD v2 gnomAD v4
9g.135786243T>GCA375491533KCNT1c.3224T>G (p.Val1075Gly)
c.3065T>G (p.Val1022Gly)
c.2972T>G (p.Val991Gly)
c.2981T>G (p.Val994Gly)
c.3125T>G (p.Val1042Gly)
c.*2834T>G (n.*2834T>G)
c.3107T>G (p.Val1036Gly)
c.3146T>G (p.Val1049Gly)
c.3161T>G (p.Val1054Gly)
n.3909T>G
c.3167T>G (p.Val1056Gly)
c.3089T>G (p.Val1030Gly)
c.3059T>G (p.Val1020Gly)
c.3359T>G (p.Val1120Gly)
c.3368T>G (p.Val1123Gly)
c.2714T>G (p.Val905Gly)
c.3158T>G (p.Val1053Gly)
9g.135786243T=CA1883887521KCNT1c.3224T= (p.Val1075=)
c.3065T= (p.Val1022=)
c.2972T= (p.Val991=)
c.2981T= (p.Val994=)
c.3125T= (p.Val1042=)
c.*2834T= (n.*2834T=)
c.3107T= (p.Val1036=)
c.3146T= (p.Val1049=)
c.3161T= (p.Val1054=)
n.3909T=
c.3167T= (p.Val1056=)
c.3089T= (p.Val1030=)
c.3059T= (p.Val1020=)
c.3359T= (p.Val1120=)
c.3368T= (p.Val1123=)
c.2714T= (p.Val905=)
c.3158T= (p.Val1053=)
9g.135786244G>ACA467821166KCNT1c.3225G>A (p.Val1075=)
c.3066G>A (p.Val1022=)
c.2973G>A (p.Val991=)
c.2982G>A (p.Val994=)
c.3126G>A (p.Val1042=)
c.*2835G>A (n.*2835G>A)
c.3108G>A (p.Val1036=)
c.3147G>A (p.Val1049=)
c.3162G>A (p.Val1054=)
n.3910G>A
c.3168G>A (p.Val1056=)
c.3090G>A (p.Val1030=)
c.3060G>A (p.Val1020=)
c.3360G>A (p.Val1120=)
c.3369G>A (p.Val1123=)
c.2715G>A (p.Val905=)
c.3159G>A (p.Val1053=)
 ClinVar
9g.135786244G>CCA467821167KCNT1c.3225G>C (p.Val1075=)
c.3066G>C (p.Val1022=)
c.2973G>C (p.Val991=)
c.2982G>C (p.Val994=)
c.3126G>C (p.Val1042=)
c.*2835G>C (n.*2835G>C)
c.3108G>C (p.Val1036=)
c.3147G>C (p.Val1049=)
c.3162G>C (p.Val1054=)
n.3910G>C
c.3168G>C (p.Val1056=)
c.3090G>C (p.Val1030=)
c.3060G>C (p.Val1020=)
c.3360G>C (p.Val1120=)
c.3369G>C (p.Val1123=)
c.2715G>C (p.Val905=)
c.3159G>C (p.Val1053=)
9g.135786244G>TCA467821168KCNT1c.3225G>T (p.Val1075=)
c.3066G>T (p.Val1022=)
c.2973G>T (p.Val991=)
c.2982G>T (p.Val994=)
c.3126G>T (p.Val1042=)
c.*2835G>T (n.*2835G>T)
c.3108G>T (p.Val1036=)
c.3147G>T (p.Val1049=)
c.3162G>T (p.Val1054=)
n.3910G>T
c.3168G>T (p.Val1056=)
c.3090G>T (p.Val1030=)
c.3060G>T (p.Val1020=)
c.3360G>T (p.Val1120=)
c.3369G>T (p.Val1123=)
c.2715G>T (p.Val905=)
c.3159G>T (p.Val1053=)
9g.135786245A>CCA375491534KCNT1c.3226A>C (p.Lys1076Gln)
c.3067A>C (p.Lys1023Gln)
c.2974A>C (p.Lys992Gln)
c.2983A>C (p.Lys995Gln)
c.3127A>C (p.Lys1043Gln)
c.*2836A>C (n.*2836A>C)
c.3109A>C (p.Lys1037Gln)
c.3148A>C (p.Lys1050Gln)
c.3163A>C (p.Lys1055Gln)
n.3911A>C
c.3169A>C (p.Lys1057Gln)
c.3091A>C (p.Lys1031Gln)
c.3061A>C (p.Lys1021Gln)
c.3361A>C (p.Lys1121Gln)
c.3370A>C (p.Lys1124Gln)
c.2716A>C (p.Lys906Gln)
c.3160A>C (p.Lys1054Gln)
9g.135786245A>GCA375491535KCNT1c.3226A>G (p.Lys1076Glu)
c.3067A>G (p.Lys1023Glu)
c.2974A>G (p.Lys992Glu)
c.2983A>G (p.Lys995Glu)
c.3127A>G (p.Lys1043Glu)
c.*2836A>G (n.*2836A>G)
c.3109A>G (p.Lys1037Glu)
c.3148A>G (p.Lys1050Glu)
c.3163A>G (p.Lys1055Glu)
n.3911A>G
c.3169A>G (p.Lys1057Glu)
c.3091A>G (p.Lys1031Glu)
c.3061A>G (p.Lys1021Glu)
c.3361A>G (p.Lys1121Glu)
c.3370A>G (p.Lys1124Glu)
c.2716A>G (p.Lys906Glu)
c.3160A>G (p.Lys1054Glu)
9g.135786245A>TCA375491536KCNT1c.3226A>T (p.Lys1076Ter)
c.3067A>T (p.Lys1023Ter)
c.2974A>T (p.Lys992Ter)
c.2983A>T (p.Lys995Ter)
c.3127A>T (p.Lys1043Ter)
c.*2836A>T (n.*2836A>T)
c.3109A>T (p.Lys1037Ter)
c.3148A>T (p.Lys1050Ter)
c.3163A>T (p.Lys1055Ter)
n.3911A>T
c.3169A>T (p.Lys1057Ter)
c.3091A>T (p.Lys1031Ter)
c.3061A>T (p.Lys1021Ter)
c.3361A>T (p.Lys1121Ter)
c.3370A>T (p.Lys1124Ter)
c.2716A>T (p.Lys906Ter)
c.3160A>T (p.Lys1054Ter)
9g.135786246A>CCA375491537KCNT1c.3227A>C (p.Lys1076Thr)
c.3068A>C (p.Lys1023Thr)
c.2975A>C (p.Lys992Thr)
c.2984A>C (p.Lys995Thr)
c.3128A>C (p.Lys1043Thr)
c.*2837A>C (n.*2837A>C)
c.3110A>C (p.Lys1037Thr)
c.3149A>C (p.Lys1050Thr)
c.3164A>C (p.Lys1055Thr)
n.3912A>C
c.3170A>C (p.Lys1057Thr)
c.3092A>C (p.Lys1031Thr)
c.3062A>C (p.Lys1021Thr)
c.3362A>C (p.Lys1121Thr)
c.3371A>C (p.Lys1124Thr)
c.2717A>C (p.Lys906Thr)
c.3161A>C (p.Lys1054Thr)
9g.135786246A>GCA375491538KCNT1c.3227A>G (p.Lys1076Arg)
c.3068A>G (p.Lys1023Arg)
c.2975A>G (p.Lys992Arg)
c.2984A>G (p.Lys995Arg)
c.3128A>G (p.Lys1043Arg)
c.*2837A>G (n.*2837A>G)
c.3110A>G (p.Lys1037Arg)
c.3149A>G (p.Lys1050Arg)
c.3164A>G (p.Lys1055Arg)
n.3912A>G
c.3170A>G (p.Lys1057Arg)
c.3092A>G (p.Lys1031Arg)
c.3062A>G (p.Lys1021Arg)
c.3362A>G (p.Lys1121Arg)
c.3371A>G (p.Lys1124Arg)
c.2717A>G (p.Lys906Arg)
c.3161A>G (p.Lys1054Arg)
9g.135786246A>TCA375491539KCNT1c.3227A>T (p.Lys1076Met)
c.3068A>T (p.Lys1023Met)
c.2975A>T (p.Lys992Met)
c.2984A>T (p.Lys995Met)
c.3128A>T (p.Lys1043Met)
c.*2837A>T (n.*2837A>T)
c.3110A>T (p.Lys1037Met)
c.3149A>T (p.Lys1050Met)
c.3164A>T (p.Lys1055Met)
n.3912A>T
c.3170A>T (p.Lys1057Met)
c.3092A>T (p.Lys1031Met)
c.3062A>T (p.Lys1021Met)
c.3362A>T (p.Lys1121Met)
c.3371A>T (p.Lys1124Met)
c.2717A>T (p.Lys906Met)
c.3161A>T (p.Lys1054Met)
9g.135786247G>ACA467821169KCNT1c.3228G>A (p.Lys1076=)
c.3069G>A (p.Lys1023=)
c.2976G>A (p.Lys992=)
c.2985G>A (p.Lys995=)
c.3129G>A (p.Lys1043=)
c.*2838G>A (n.*2838G>A)
c.3111G>A (p.Lys1037=)
c.3150G>A (p.Lys1050=)
c.3165G>A (p.Lys1055=)
n.3913G>A
c.3171G>A (p.Lys1057=)
c.3093G>A (p.Lys1031=)
c.3063G>A (p.Lys1021=)
c.3363G>A (p.Lys1121=)
c.3372G>A (p.Lys1124=)
c.2718G>A (p.Lys906=)
c.3162G>A (p.Lys1054=)
9g.135786247G>CCA375491541KCNT1c.3228G>C (p.Lys1076Asn)
c.3069G>C (p.Lys1023Asn)
c.2976G>C (p.Lys992Asn)
c.2985G>C (p.Lys995Asn)
c.3129G>C (p.Lys1043Asn)
c.*2838G>C (n.*2838G>C)
c.3111G>C (p.Lys1037Asn)
c.3150G>C (p.Lys1050Asn)
c.3165G>C (p.Lys1055Asn)
n.3913G>C
c.3171G>C (p.Lys1057Asn)
c.3093G>C (p.Lys1031Asn)
c.3063G>C (p.Lys1021Asn)
c.3363G>C (p.Lys1121Asn)
c.3372G>C (p.Lys1124Asn)
c.2718G>C (p.Lys906Asn)
c.3162G>C (p.Lys1054Asn)
9g.135786247G>TCA375491540KCNT1c.3228G>T (p.Lys1076Asn)
c.3069G>T (p.Lys1023Asn)
c.2976G>T (p.Lys992Asn)
c.2985G>T (p.Lys995Asn)
c.3129G>T (p.Lys1043Asn)
c.*2838G>T (n.*2838G>T)
c.3111G>T (p.Lys1037Asn)
c.3150G>T (p.Lys1050Asn)
c.3165G>T (p.Lys1055Asn)
n.3913G>T
c.3171G>T (p.Lys1057Asn)
c.3093G>T (p.Lys1031Asn)
c.3063G>T (p.Lys1021Asn)
c.3363G>T (p.Lys1121Asn)
c.3372G>T (p.Lys1124Asn)
c.2718G>T (p.Lys906Asn)
c.3162G>T (p.Lys1054Asn)
 gnomAD v4
9g.135786248G>ACA375491542KCNT1c.3229G>A (p.Gly1077Arg)
c.3070G>A (p.Gly1024Arg)
c.2977G>A (p.Gly993Arg)
c.2986G>A (p.Gly996Arg)
c.3130G>A (p.Gly1044Arg)
c.*2839G>A (n.*2839G>A)
c.3112G>A (p.Gly1038Arg)
c.3151G>A (p.Gly1051Arg)
c.3166G>A (p.Gly1056Arg)
n.3914G>A
c.3172G>A (p.Gly1058Arg)
c.3094G>A (p.Gly1032Arg)
c.3064G>A (p.Gly1022Arg)
c.3364G>A (p.Gly1122Arg)
c.3373G>A (p.Gly1125Arg)
c.2719G>A (p.Gly907Arg)
c.3163G>A (p.Gly1055Arg)
9g.135786248G>CCA375491543KCNT1c.3229G>C (p.Gly1077Arg)
c.3070G>C (p.Gly1024Arg)
c.2977G>C (p.Gly993Arg)
c.2986G>C (p.Gly996Arg)
c.3130G>C (p.Gly1044Arg)
c.*2839G>C (n.*2839G>C)
c.3112G>C (p.Gly1038Arg)
c.3151G>C (p.Gly1051Arg)
c.3166G>C (p.Gly1056Arg)
n.3914G>C
c.3172G>C (p.Gly1058Arg)
c.3094G>C (p.Gly1032Arg)
c.3064G>C (p.Gly1022Arg)
c.3364G>C (p.Gly1122Arg)
c.3373G>C (p.Gly1125Arg)
c.2719G>C (p.Gly907Arg)
c.3163G>C (p.Gly1055Arg)
9g.135786248G>TCA375491544KCNT1c.3229G>T (p.Gly1077Trp)
c.3070G>T (p.Gly1024Trp)
c.2977G>T (p.Gly993Trp)
c.2986G>T (p.Gly996Trp)
c.3130G>T (p.Gly1044Trp)
c.*2839G>T (n.*2839G>T)
c.3112G>T (p.Gly1038Trp)
c.3151G>T (p.Gly1051Trp)
c.3166G>T (p.Gly1056Trp)
n.3914G>T
c.3172G>T (p.Gly1058Trp)
c.3094G>T (p.Gly1032Trp)
c.3064G>T (p.Gly1022Trp)
c.3364G>T (p.Gly1122Trp)
c.3373G>T (p.Gly1125Trp)
c.2719G>T (p.Gly907Trp)
c.3163G>T (p.Gly1055Trp)
9g.135786249G>ACA375491545KCNT1c.3230G>A (p.Gly1077Glu)
c.3071G>A (p.Gly1024Glu)
c.2978G>A (p.Gly993Glu)
c.2987G>A (p.Gly996Glu)
c.3131G>A (p.Gly1044Glu)
c.*2840G>A (n.*2840G>A)
c.3113G>A (p.Gly1038Glu)
c.3152G>A (p.Gly1051Glu)
c.3167G>A (p.Gly1056Glu)
n.3915G>A
c.3173G>A (p.Gly1058Glu)
c.3095G>A (p.Gly1032Glu)
c.3065G>A (p.Gly1022Glu)
c.3365G>A (p.Gly1122Glu)
c.3374G>A (p.Gly1125Glu)
c.2720G>A (p.Gly907Glu)
c.3164G>A (p.Gly1055Glu)
 gnomAD v4
9g.135786249G>CCA375491546KCNT1c.3230G>C (p.Gly1077Ala)
c.3071G>C (p.Gly1024Ala)
c.2978G>C (p.Gly993Ala)
c.2987G>C (p.Gly996Ala)
c.3131G>C (p.Gly1044Ala)
c.*2840G>C (n.*2840G>C)
c.3113G>C (p.Gly1038Ala)
c.3152G>C (p.Gly1051Ala)
c.3167G>C (p.Gly1056Ala)
n.3915G>C
c.3173G>C (p.Gly1058Ala)
c.3095G>C (p.Gly1032Ala)
c.3065G>C (p.Gly1022Ala)
c.3365G>C (p.Gly1122Ala)
c.3374G>C (p.Gly1125Ala)
c.2720G>C (p.Gly907Ala)
c.3164G>C (p.Gly1055Ala)
9g.135786249G>TCA375491547KCNT1c.3230G>T (p.Gly1077Val)
c.3071G>T (p.Gly1024Val)
c.2978G>T (p.Gly993Val)
c.2987G>T (p.Gly996Val)
c.3131G>T (p.Gly1044Val)
c.*2840G>T (n.*2840G>T)
c.3113G>T (p.Gly1038Val)
c.3152G>T (p.Gly1051Val)
c.3167G>T (p.Gly1056Val)
n.3915G>T
c.3173G>T (p.Gly1058Val)
c.3095G>T (p.Gly1032Val)
c.3065G>T (p.Gly1022Val)
c.3365G>T (p.Gly1122Val)
c.3374G>T (p.Gly1125Val)
c.2720G>T (p.Gly907Val)
c.3164G>T (p.Gly1055Val)
9g.135786250G>ACA5327753KCNT1c.3231G>A (p.Gly1077=)
c.3072G>A (p.Gly1024=)
c.2979G>A (p.Gly993=)
c.2988G>A (p.Gly996=)
c.3132G>A (p.Gly1044=)
c.*2841G>A (n.*2841G>A)
c.3114G>A (p.Gly1038=)
c.3153G>A (p.Gly1051=)
c.3168G>A (p.Gly1056=)
n.3916G>A
c.3174G>A (p.Gly1058=)
c.3096G>A (p.Gly1032=)
c.3066G>A (p.Gly1022=)
c.3366G>A (p.Gly1122=)
c.3375G>A (p.Gly1125=)
c.2721G>A (p.Gly907=)
c.3165G>A (p.Gly1055=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786250G>CCA467821171KCNT1c.3231G>C (p.Gly1077=)
c.3072G>C (p.Gly1024=)
c.2979G>C (p.Gly993=)
c.2988G>C (p.Gly996=)
c.3132G>C (p.Gly1044=)
c.*2841G>C (n.*2841G>C)
c.3114G>C (p.Gly1038=)
c.3153G>C (p.Gly1051=)
c.3168G>C (p.Gly1056=)
n.3916G>C
c.3174G>C (p.Gly1058=)
c.3096G>C (p.Gly1032=)
c.3066G>C (p.Gly1022=)
c.3366G>C (p.Gly1122=)
c.3375G>C (p.Gly1125=)
c.2721G>C (p.Gly907=)
c.3165G>C (p.Gly1055=)
9g.135786250G=CA1883887532KCNT1c.3231G= (p.Gly1077=)
c.3072G= (p.Gly1024=)
c.2979G= (p.Gly993=)
c.2988G= (p.Gly996=)
c.3132G= (p.Gly1044=)
c.*2841G= (n.*2841G=)
c.3114G= (p.Gly1038=)
c.3153G= (p.Gly1051=)
c.3168G= (p.Gly1056=)
n.3916G=
c.3174G= (p.Gly1058=)
c.3096G= (p.Gly1032=)
c.3066G= (p.Gly1022=)
c.3366G= (p.Gly1122=)
c.3375G= (p.Gly1125=)
c.2721G= (p.Gly907=)
c.3165G= (p.Gly1055=)
9g.135786250G>TCA467821170KCNT1c.3231G>T (p.Gly1077=)
c.3072G>T (p.Gly1024=)
c.2979G>T (p.Gly993=)
c.2988G>T (p.Gly996=)
c.3132G>T (p.Gly1044=)
c.*2841G>T (n.*2841G>T)
c.3114G>T (p.Gly1038=)
c.3153G>T (p.Gly1051=)
c.3168G>T (p.Gly1056=)
n.3916G>T
c.3174G>T (p.Gly1058=)
c.3096G>T (p.Gly1032=)
c.3066G>T (p.Gly1022=)
c.3366G>T (p.Gly1122=)
c.3375G>T (p.Gly1125=)
c.2721G>T (p.Gly907=)
c.3165G>T (p.Gly1055=)
 dbSNP gnomAD v2 gnomAD v4
9g.135786251C>ACA375491548KCNT1c.3232C>A (p.Pro1078Thr)
c.3073C>A (p.Pro1025Thr)
c.2980C>A (p.Pro994Thr)
c.2989C>A (p.Pro997Thr)
c.3133C>A (p.Pro1045Thr)
c.*2842C>A (n.*2842C>A)
c.3115C>A (p.Pro1039Thr)
c.3154C>A (p.Pro1052Thr)
c.3169C>A (p.Pro1057Thr)
n.3917C>A
c.3175C>A (p.Pro1059Thr)
c.3097C>A (p.Pro1033Thr)
c.3067C>A (p.Pro1023Thr)
c.3367C>A (p.Pro1123Thr)
c.3376C>A (p.Pro1126Thr)
c.2722C>A (p.Pro908Thr)
c.3166C>A (p.Pro1056Thr)
9g.135786251C=CA1883887540KCNT1c.3232C= (p.Pro1078=)
c.3073C= (p.Pro1025=)
c.2980C= (p.Pro994=)
c.2989C= (p.Pro997=)
c.3133C= (p.Pro1045=)
c.*2842C= (n.*2842C=)
c.3115C= (p.Pro1039=)
c.3154C= (p.Pro1052=)
c.3169C= (p.Pro1057=)
n.3917C=
c.3175C= (p.Pro1059=)
c.3097C= (p.Pro1033=)
c.3067C= (p.Pro1023=)
c.3367C= (p.Pro1123=)
c.3376C= (p.Pro1126=)
c.2722C= (p.Pro908=)
c.3166C= (p.Pro1056=)
9g.135786251C>GCA375491549KCNT1c.3232C>G (p.Pro1078Ala)
c.3073C>G (p.Pro1025Ala)
c.2980C>G (p.Pro994Ala)
c.2989C>G (p.Pro997Ala)
c.3133C>G (p.Pro1045Ala)
c.*2842C>G (n.*2842C>G)
c.3115C>G (p.Pro1039Ala)
c.3154C>G (p.Pro1052Ala)
c.3169C>G (p.Pro1057Ala)
n.3917C>G
c.3175C>G (p.Pro1059Ala)
c.3097C>G (p.Pro1033Ala)
c.3067C>G (p.Pro1023Ala)
c.3367C>G (p.Pro1123Ala)
c.3376C>G (p.Pro1126Ala)
c.2722C>G (p.Pro908Ala)
c.3166C>G (p.Pro1056Ala)
9g.135786251C>TCA375491550KCNT1c.3232C>T (p.Pro1078Ser)
c.3073C>T (p.Pro1025Ser)
c.2980C>T (p.Pro994Ser)
c.2989C>T (p.Pro997Ser)
c.3133C>T (p.Pro1045Ser)
c.*2842C>T (n.*2842C>T)
c.3115C>T (p.Pro1039Ser)
c.3154C>T (p.Pro1052Ser)
c.3169C>T (p.Pro1057Ser)
n.3917C>T
c.3175C>T (p.Pro1059Ser)
c.3097C>T (p.Pro1033Ser)
c.3067C>T (p.Pro1023Ser)
c.3367C>T (p.Pro1123Ser)
c.3376C>T (p.Pro1126Ser)
c.2722C>T (p.Pro908Ser)
c.3166C>T (p.Pro1056Ser)
 ClinVar dbSNP gnomAD v4
9g.135786252C>ACA375491551KCNT1c.3233C>A (p.Pro1078His)
c.3074C>A (p.Pro1025His)
c.2981C>A (p.Pro994His)
c.2990C>A (p.Pro997His)
c.3134C>A (p.Pro1045His)
c.*2843C>A (n.*2843C>A)
c.3116C>A (p.Pro1039His)
c.3155C>A (p.Pro1052His)
c.3170C>A (p.Pro1057His)
n.3918C>A
c.3176C>A (p.Pro1059His)
c.3098C>A (p.Pro1033His)
c.3068C>A (p.Pro1023His)
c.3368C>A (p.Pro1123His)
c.3377C>A (p.Pro1126His)
c.2723C>A (p.Pro908His)
c.3167C>A (p.Pro1056His)
9g.135786252C=CA1883887544KCNT1c.3233C= (p.Pro1078=)
c.3074C= (p.Pro1025=)
c.2981C= (p.Pro994=)
c.2990C= (p.Pro997=)
c.3134C= (p.Pro1045=)
c.*2843C= (n.*2843C=)
c.3116C= (p.Pro1039=)
c.3155C= (p.Pro1052=)
c.3170C= (p.Pro1057=)
n.3918C=
c.3176C= (p.Pro1059=)
c.3098C= (p.Pro1033=)
c.3068C= (p.Pro1023=)
c.3368C= (p.Pro1123=)
c.3377C= (p.Pro1126=)
c.2723C= (p.Pro908=)
c.3167C= (p.Pro1056=)
9g.135786252C>GCA375491552KCNT1c.3233C>G (p.Pro1078Arg)
c.3074C>G (p.Pro1025Arg)
c.2981C>G (p.Pro994Arg)
c.2990C>G (p.Pro997Arg)
c.3134C>G (p.Pro1045Arg)
c.*2843C>G (n.*2843C>G)
c.3116C>G (p.Pro1039Arg)
c.3155C>G (p.Pro1052Arg)
c.3170C>G (p.Pro1057Arg)
n.3918C>G
c.3176C>G (p.Pro1059Arg)
c.3098C>G (p.Pro1033Arg)
c.3068C>G (p.Pro1023Arg)
c.3368C>G (p.Pro1123Arg)
c.3377C>G (p.Pro1126Arg)
c.2723C>G (p.Pro908Arg)
c.3167C>G (p.Pro1056Arg)
9g.135786252C>TCA375491553KCNT1c.3233C>T (p.Pro1078Leu)
c.3074C>T (p.Pro1025Leu)
c.2981C>T (p.Pro994Leu)
c.2990C>T (p.Pro997Leu)
c.3134C>T (p.Pro1045Leu)
c.*2843C>T (n.*2843C>T)
c.3116C>T (p.Pro1039Leu)
c.3155C>T (p.Pro1052Leu)
c.3170C>T (p.Pro1057Leu)
n.3918C>T
c.3176C>T (p.Pro1059Leu)
c.3098C>T (p.Pro1033Leu)
c.3068C>T (p.Pro1023Leu)
c.3368C>T (p.Pro1123Leu)
c.3377C>T (p.Pro1126Leu)
c.2723C>T (p.Pro908Leu)
c.3167C>T (p.Pro1056Leu)
 dbSNP
9g.135786253C>ACA467821172KCNT1c.3234C>A (p.Pro1078=)
c.3075C>A (p.Pro1025=)
c.2982C>A (p.Pro994=)
c.2991C>A (p.Pro997=)
c.3135C>A (p.Pro1045=)
c.*2844C>A (n.*2844C>A)
c.3117C>A (p.Pro1039=)
c.3156C>A (p.Pro1052=)
c.3171C>A (p.Pro1057=)
n.3919C>A
c.3177C>A (p.Pro1059=)
c.3099C>A (p.Pro1033=)
c.3069C>A (p.Pro1023=)
c.3369C>A (p.Pro1123=)
c.3378C>A (p.Pro1126=)
c.2724C>A (p.Pro908=)
c.3168C>A (p.Pro1056=)
9g.135786253C>GCA467821173KCNT1c.3234C>G (p.Pro1078=)
c.3075C>G (p.Pro1025=)
c.2982C>G (p.Pro994=)
c.2991C>G (p.Pro997=)
c.3135C>G (p.Pro1045=)
c.*2844C>G (n.*2844C>G)
c.3117C>G (p.Pro1039=)
c.3156C>G (p.Pro1052=)
c.3171C>G (p.Pro1057=)
n.3919C>G
c.3177C>G (p.Pro1059=)
c.3099C>G (p.Pro1033=)
c.3069C>G (p.Pro1023=)
c.3369C>G (p.Pro1123=)
c.3378C>G (p.Pro1126=)
c.2724C>G (p.Pro908=)
c.3168C>G (p.Pro1056=)
9g.135786253C>TCA467821174KCNT1c.3234C>T (p.Pro1078=)
c.3075C>T (p.Pro1025=)
c.2982C>T (p.Pro994=)
c.2991C>T (p.Pro997=)
c.3135C>T (p.Pro1045=)
c.*2844C>T (n.*2844C>T)
c.3117C>T (p.Pro1039=)
c.3156C>T (p.Pro1052=)
c.3171C>T (p.Pro1057=)
n.3919C>T
c.3177C>T (p.Pro1059=)
c.3099C>T (p.Pro1033=)
c.3069C>T (p.Pro1023=)
c.3369C>T (p.Pro1123=)
c.3378C>T (p.Pro1126=)
c.2724C>T (p.Pro908=)
c.3168C>T (p.Pro1056=)
 gnomAD v4
9g.135786254T>ACA375491555KCNT1c.3235T>A (p.Trp1079Arg)
c.3076T>A (p.Trp1026Arg)
c.2983T>A (p.Trp995Arg)
c.2992T>A (p.Trp998Arg)
c.3136T>A (p.Trp1046Arg)
c.*2845T>A (n.*2845T>A)
c.3118T>A (p.Trp1040Arg)
c.3157T>A (p.Trp1053Arg)
c.3172T>A (p.Trp1058Arg)
n.3920T>A
c.3178T>A (p.Trp1060Arg)
c.3100T>A (p.Trp1034Arg)
c.3070T>A (p.Trp1024Arg)
c.3370T>A (p.Trp1124Arg)
c.3379T>A (p.Trp1127Arg)
c.2725T>A (p.Trp909Arg)
c.3169T>A (p.Trp1057Arg)
9g.135786254T>CCA375491556KCNT1c.3235T>C (p.Trp1079Arg)
c.3076T>C (p.Trp1026Arg)
c.2983T>C (p.Trp995Arg)
c.2992T>C (p.Trp998Arg)
c.3136T>C (p.Trp1046Arg)
c.*2845T>C (n.*2845T>C)
c.3118T>C (p.Trp1040Arg)
c.3157T>C (p.Trp1053Arg)
c.3172T>C (p.Trp1058Arg)
n.3920T>C
c.3178T>C (p.Trp1060Arg)
c.3100T>C (p.Trp1034Arg)
c.3070T>C (p.Trp1024Arg)
c.3370T>C (p.Trp1124Arg)
c.3379T>C (p.Trp1127Arg)
c.2725T>C (p.Trp909Arg)
c.3169T>C (p.Trp1057Arg)
 gnomAD v4
9g.135786254T>GCA375491554KCNT1c.3235T>G (p.Trp1079Gly)
c.3076T>G (p.Trp1026Gly)
c.2983T>G (p.Trp995Gly)
c.2992T>G (p.Trp998Gly)
c.3136T>G (p.Trp1046Gly)
c.*2845T>G (n.*2845T>G)
c.3118T>G (p.Trp1040Gly)
c.3157T>G (p.Trp1053Gly)
c.3172T>G (p.Trp1058Gly)
n.3920T>G
c.3178T>G (p.Trp1060Gly)
c.3100T>G (p.Trp1034Gly)
c.3070T>G (p.Trp1024Gly)
c.3370T>G (p.Trp1124Gly)
c.3379T>G (p.Trp1127Gly)
c.2725T>G (p.Trp909Gly)
c.3169T>G (p.Trp1057Gly)
 gnomAD v4
9g.135786255G>ACA375491557KCNT1c.3236G>A (p.Trp1079Ter)
c.3077G>A (p.Trp1026Ter)
c.2984G>A (p.Trp995Ter)
c.2993G>A (p.Trp998Ter)
c.3137G>A (p.Trp1046Ter)
c.*2846G>A (n.*2846G>A)
c.3119G>A (p.Trp1040Ter)
c.3158G>A (p.Trp1053Ter)
c.3173G>A (p.Trp1058Ter)
n.3921G>A
c.3179G>A (p.Trp1060Ter)
c.3101G>A (p.Trp1034Ter)
c.3071G>A (p.Trp1024Ter)
c.3371G>A (p.Trp1124Ter)
c.3380G>A (p.Trp1127Ter)
c.2726G>A (p.Trp909Ter)
c.3170G>A (p.Trp1057Ter)
 ClinVar
9g.135786255G>CCA375491558KCNT1c.3236G>C (p.Trp1079Ser)
c.3077G>C (p.Trp1026Ser)
c.2984G>C (p.Trp995Ser)
c.2993G>C (p.Trp998Ser)
c.3137G>C (p.Trp1046Ser)
c.*2846G>C (n.*2846G>C)
c.3119G>C (p.Trp1040Ser)
c.3158G>C (p.Trp1053Ser)
c.3173G>C (p.Trp1058Ser)
n.3921G>C
c.3179G>C (p.Trp1060Ser)
c.3101G>C (p.Trp1034Ser)
c.3071G>C (p.Trp1024Ser)
c.3371G>C (p.Trp1124Ser)
c.3380G>C (p.Trp1127Ser)
c.2726G>C (p.Trp909Ser)
c.3170G>C (p.Trp1057Ser)
 gnomAD v4
9g.135786255G>TCA375491559KCNT1c.3236G>T (p.Trp1079Leu)
c.3077G>T (p.Trp1026Leu)
c.2984G>T (p.Trp995Leu)
c.2993G>T (p.Trp998Leu)
c.3137G>T (p.Trp1046Leu)
c.*2846G>T (n.*2846G>T)
c.3119G>T (p.Trp1040Leu)
c.3158G>T (p.Trp1053Leu)
c.3173G>T (p.Trp1058Leu)
n.3921G>T
c.3179G>T (p.Trp1060Leu)
c.3101G>T (p.Trp1034Leu)
c.3071G>T (p.Trp1024Leu)
c.3371G>T (p.Trp1124Leu)
c.3380G>T (p.Trp1127Leu)
c.2726G>T (p.Trp909Leu)
c.3170G>T (p.Trp1057Leu)
9g.135786256G>ACA375491560KCNT1c.3237G>A (p.Trp1079Ter)
c.3078G>A (p.Trp1026Ter)
c.2985G>A (p.Trp995Ter)
c.2994G>A (p.Trp998Ter)
c.3138G>A (p.Trp1046Ter)
c.*2847G>A (n.*2847G>A)
c.3120G>A (p.Trp1040Ter)
c.3159G>A (p.Trp1053Ter)
c.3174G>A (p.Trp1058Ter)
n.3922G>A
c.3180G>A (p.Trp1060Ter)
c.3102G>A (p.Trp1034Ter)
c.3072G>A (p.Trp1024Ter)
c.3372G>A (p.Trp1124Ter)
c.3381G>A (p.Trp1127Ter)
c.2727G>A (p.Trp909Ter)
c.3171G>A (p.Trp1057Ter)
9g.135786256G>CCA375491561KCNT1c.3237G>C (p.Trp1079Cys)
c.3078G>C (p.Trp1026Cys)
c.2985G>C (p.Trp995Cys)
c.2994G>C (p.Trp998Cys)
c.3138G>C (p.Trp1046Cys)
c.*2847G>C (n.*2847G>C)
c.3120G>C (p.Trp1040Cys)
c.3159G>C (p.Trp1053Cys)
c.3174G>C (p.Trp1058Cys)
n.3922G>C
c.3180G>C (p.Trp1060Cys)
c.3102G>C (p.Trp1034Cys)
c.3072G>C (p.Trp1024Cys)
c.3372G>C (p.Trp1124Cys)
c.3381G>C (p.Trp1127Cys)
c.2727G>C (p.Trp909Cys)
c.3171G>C (p.Trp1057Cys)
 gnomAD v4
9g.135786256G>TCA375491562KCNT1c.3237G>T (p.Trp1079Cys)
c.3078G>T (p.Trp1026Cys)
c.2985G>T (p.Trp995Cys)
c.2994G>T (p.Trp998Cys)
c.3138G>T (p.Trp1046Cys)
c.*2847G>T (n.*2847G>T)
c.3120G>T (p.Trp1040Cys)
c.3159G>T (p.Trp1053Cys)
c.3174G>T (p.Trp1058Cys)
n.3922G>T
c.3180G>T (p.Trp1060Cys)
c.3102G>T (p.Trp1034Cys)
c.3072G>T (p.Trp1024Cys)
c.3372G>T (p.Trp1124Cys)
c.3381G>T (p.Trp1127Cys)
c.2727G>T (p.Trp909Cys)
c.3171G>T (p.Trp1057Cys)
 gnomAD v4
9g.135786256_135786307delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGCCA1883887548KCNT1c.3237_3288delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (p.Trp1079=)
c.3078_3129delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (p.Trp1026=)
c.2985_3036delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (p.Trp995=)
c.2994_3045delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (p.Trp998=)
c.3138_3189delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (p.Trp1046=)
c.*2847_*2898delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (n.*2847_*2898delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC)
c.3120_3171delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (p.Trp1040=)
c.3159_3210delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (p.Trp1053=)
c.3174_3225delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (p.Trp1058=)
n.3922_3973delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC
c.3180_3231delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (p.Trp1060=)
c.3102_3153delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (p.Trp1034=)
c.3072_3123delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (p.Trp1024=)
c.3372_3423delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (p.Trp1124=)
c.3381_3432delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (p.Trp1127=)
c.2727_2778delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (p.Trp909=)
c.3171_3222delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (p.Trp1057=)
9g.135786257G>ACA375491563KCNT1c.3238G>A (p.Gly1080Ser)
c.3079G>A (p.Gly1027Ser)
c.2986G>A (p.Gly996Ser)
c.2995G>A (p.Gly999Ser)
c.3139G>A (p.Gly1047Ser)
c.*2848G>A (n.*2848G>A)
c.3121G>A (p.Gly1041Ser)
c.3160G>A (p.Gly1054Ser)
c.3175G>A (p.Gly1059Ser)
n.3923G>A
c.3181G>A (p.Gly1061Ser)
c.3103G>A (p.Gly1035Ser)
c.3073G>A (p.Gly1025Ser)
c.3373G>A (p.Gly1125Ser)
c.3382G>A (p.Gly1128Ser)
c.2728G>A (p.Gly910Ser)
c.3172G>A (p.Gly1058Ser)
9g.135786257G>CCA375491565KCNT1c.3238G>C (p.Gly1080Arg)
c.3079G>C (p.Gly1027Arg)
c.2986G>C (p.Gly996Arg)
c.2995G>C (p.Gly999Arg)
c.3139G>C (p.Gly1047Arg)
c.*2848G>C (n.*2848G>C)
c.3121G>C (p.Gly1041Arg)
c.3160G>C (p.Gly1054Arg)
c.3175G>C (p.Gly1059Arg)
n.3923G>C
c.3181G>C (p.Gly1061Arg)
c.3103G>C (p.Gly1035Arg)
c.3073G>C (p.Gly1025Arg)
c.3373G>C (p.Gly1125Arg)
c.3382G>C (p.Gly1128Arg)
c.2728G>C (p.Gly910Arg)
c.3172G>C (p.Gly1058Arg)
9g.135786257G>TCA375491564KCNT1c.3238G>T (p.Gly1080Cys)
c.3079G>T (p.Gly1027Cys)
c.2986G>T (p.Gly996Cys)
c.2995G>T (p.Gly999Cys)
c.3139G>T (p.Gly1047Cys)
c.*2848G>T (n.*2848G>T)
c.3121G>T (p.Gly1041Cys)
c.3160G>T (p.Gly1054Cys)
c.3175G>T (p.Gly1059Cys)
n.3923G>T
c.3181G>T (p.Gly1061Cys)
c.3103G>T (p.Gly1035Cys)
c.3073G>T (p.Gly1025Cys)
c.3373G>T (p.Gly1125Cys)
c.3382G>T (p.Gly1128Cys)
c.2728G>T (p.Gly910Cys)
c.3172G>T (p.Gly1058Cys)
9g.135786259_135786309delCA591364966KCNT1c.3240_3290del (p.Ser1081_Gly1097del)
c.3081_3131del (p.Ser1028_Gly1044del)
c.2988_3038del (p.Ser997_Gly1013del)
c.2997_3047del (p.Ser1000_Gly1016del)
c.3141_3191del (p.Ser1048_Gly1064del)
c.*2850_*2900del (n.*2850_*2900del)
c.3123_3173del (p.Ser1042_Gly1058del)
c.3162_3212del (p.Ser1055_Gly1071del)
c.3177_3227del (p.Ser1060_Gly1076del)
n.3925_3975del
c.3183_3233del (p.Ser1062_Gly1078del)
c.3105_3155del (p.Ser1036_Gly1052del)
c.3075_3125del (p.Ser1026_Gly1042del)
c.3375_3425del (p.Ser1126_Gly1142del)
c.3384_3434del (p.Ser1129_Gly1145del)
c.2730_2780del (p.Ser911_Gly927del)
c.3174_3224del (p.Ser1059_Gly1075del)
 dbSNP gnomAD v2 gnomAD v4
9g.135786258G>ACA375491566KCNT1c.3239G>A (p.Gly1080Asp)
c.3080G>A (p.Gly1027Asp)
c.2987G>A (p.Gly996Asp)
c.2996G>A (p.Gly999Asp)
c.3140G>A (p.Gly1047Asp)
c.*2849G>A (n.*2849G>A)
c.3122G>A (p.Gly1041Asp)
c.3161G>A (p.Gly1054Asp)
c.3176G>A (p.Gly1059Asp)
n.3924G>A
c.3182G>A (p.Gly1061Asp)
c.3104G>A (p.Gly1035Asp)
c.3074G>A (p.Gly1025Asp)
c.3374G>A (p.Gly1125Asp)
c.3383G>A (p.Gly1128Asp)
c.2729G>A (p.Gly910Asp)
c.3173G>A (p.Gly1058Asp)
9g.135786258G>CCA375491567KCNT1c.3239G>C (p.Gly1080Ala)
c.3080G>C (p.Gly1027Ala)
c.2987G>C (p.Gly996Ala)
c.2996G>C (p.Gly999Ala)
c.3140G>C (p.Gly1047Ala)
c.*2849G>C (n.*2849G>C)
c.3122G>C (p.Gly1041Ala)
c.3161G>C (p.Gly1054Ala)
c.3176G>C (p.Gly1059Ala)
n.3924G>C
c.3182G>C (p.Gly1061Ala)
c.3104G>C (p.Gly1035Ala)
c.3074G>C (p.Gly1025Ala)
c.3374G>C (p.Gly1125Ala)
c.3383G>C (p.Gly1128Ala)
c.2729G>C (p.Gly910Ala)
c.3173G>C (p.Gly1058Ala)
9g.135786258G=CA1883887566KCNT1c.3239G= (p.Gly1080=)
c.3080G= (p.Gly1027=)
c.2987G= (p.Gly996=)
c.2996G= (p.Gly999=)
c.3140G= (p.Gly1047=)
c.*2849G= (n.*2849G=)
c.3122G= (p.Gly1041=)
c.3161G= (p.Gly1054=)
c.3176G= (p.Gly1059=)
n.3924G=
c.3182G= (p.Gly1061=)
c.3104G= (p.Gly1035=)
c.3074G= (p.Gly1025=)
c.3374G= (p.Gly1125=)
c.3383G= (p.Gly1128=)
c.2729G= (p.Gly910=)
c.3173G= (p.Gly1058=)
9g.135786258G>TCA5327754KCNT1c.3239G>T (p.Gly1080Val)
c.3080G>T (p.Gly1027Val)
c.2987G>T (p.Gly996Val)
c.2996G>T (p.Gly999Val)
c.3140G>T (p.Gly1047Val)
c.*2849G>T (n.*2849G>T)
c.3122G>T (p.Gly1041Val)
c.3161G>T (p.Gly1054Val)
c.3176G>T (p.Gly1059Val)
n.3924G>T
c.3182G>T (p.Gly1061Val)
c.3104G>T (p.Gly1035Val)
c.3074G>T (p.Gly1025Val)
c.3374G>T (p.Gly1125Val)
c.3383G>T (p.Gly1128Val)
c.2729G>T (p.Gly910Val)
c.3173G>T (p.Gly1058Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786261_135786268dupCA2692525338KCNT1c.3242_3249dup (p.Gly1084ProfsTer?)
c.3083_3090dup (p.Gly1031ProfsTer?)
c.2990_2997dup (p.Gly1000ProfsTer?)
c.2999_3006dup (p.Gly1003ProfsTer?)
c.3143_3150dup (p.Gly1051ProfsTer?)
c.*2852_*2859dup (n.*2852_*2859dup)
c.3125_3132dup (p.Gly1045ProfsTer?)
c.3164_3171dup (p.Gly1058ProfsTer?)
c.3179_3186dup (p.Gly1063ProfsTer?)
n.3927_3934dup
c.3185_3192dup (p.Gly1065ProfsTer?)
c.3107_3114dup (p.Gly1039ProfsTer?)
c.3077_3084dup (p.Gly1029ProfsTer?)
c.3377_3384dup (p.Gly1129ProfsTer?)
c.3386_3393dup (p.Gly1132ProfsTer?)
c.2732_2739dup (p.Gly914ProfsTer?)
c.3176_3183dup (p.Gly1062ProfsTer?)
 gnomAD v4
9g.135786259C>ACA467821175KCNT1c.3240C>A (p.Gly1080=)
c.3081C>A (p.Gly1027=)
c.2988C>A (p.Gly996=)
c.2997C>A (p.Gly999=)
c.3141C>A (p.Gly1047=)
c.*2850C>A (n.*2850C>A)
c.3123C>A (p.Gly1041=)
c.3162C>A (p.Gly1054=)
c.3177C>A (p.Gly1059=)
n.3925C>A
c.3183C>A (p.Gly1061=)
c.3105C>A (p.Gly1035=)
c.3075C>A (p.Gly1025=)
c.3375C>A (p.Gly1125=)
c.3384C>A (p.Gly1128=)
c.2730C>A (p.Gly910=)
c.3174C>A (p.Gly1058=)
 gnomAD v4
9g.135786259C=CA1883887575KCNT1c.3240C= (p.Gly1080=)
c.3081C= (p.Gly1027=)
c.2988C= (p.Gly996=)
c.2997C= (p.Gly999=)
c.3141C= (p.Gly1047=)
c.*2850C= (n.*2850C=)
c.3123C= (p.Gly1041=)
c.3162C= (p.Gly1054=)
c.3177C= (p.Gly1059=)
n.3925C=
c.3183C= (p.Gly1061=)
c.3105C= (p.Gly1035=)
c.3075C= (p.Gly1025=)
c.3375C= (p.Gly1125=)
c.3384C= (p.Gly1128=)
c.2730C= (p.Gly910=)
c.3174C= (p.Gly1058=)
9g.135786259C>GCA467821176KCNT1c.3240C>G (p.Gly1080=)
c.3081C>G (p.Gly1027=)
c.2988C>G (p.Gly996=)
c.2997C>G (p.Gly999=)
c.3141C>G (p.Gly1047=)
c.*2850C>G (n.*2850C>G)
c.3123C>G (p.Gly1041=)
c.3162C>G (p.Gly1054=)
c.3177C>G (p.Gly1059=)
n.3925C>G
c.3183C>G (p.Gly1061=)
c.3105C>G (p.Gly1035=)
c.3075C>G (p.Gly1025=)
c.3375C>G (p.Gly1125=)
c.3384C>G (p.Gly1128=)
c.2730C>G (p.Gly910=)
c.3174C>G (p.Gly1058=)
9g.135786259C>TCA5327755KCNT1c.3240C>T (p.Gly1080=)
c.3081C>T (p.Gly1027=)
c.2988C>T (p.Gly996=)
c.2997C>T (p.Gly999=)
c.3141C>T (p.Gly1047=)
c.*2850C>T (n.*2850C>T)
c.3123C>T (p.Gly1041=)
c.3162C>T (p.Gly1054=)
c.3177C>T (p.Gly1059=)
n.3925C>T
c.3183C>T (p.Gly1061=)
c.3105C>T (p.Gly1035=)
c.3075C>T (p.Gly1025=)
c.3375C>T (p.Gly1125=)
c.3384C>T (p.Gly1128=)
c.2730C>T (p.Gly910=)
c.3174C>T (p.Gly1058=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786259_135786267dupCA2692525346KCNT1c.3240_3248dup (p.Ala1083_Gly1084insSerArgAla)
c.3081_3089dup (p.Ala1030_Gly1031insSerArgAla)
c.2988_2996dup (p.Ala999_Gly1000insSerArgAla)
c.2997_3005dup (p.Ala1002_Gly1003insSerArgAla)
c.3141_3149dup (p.Ala1050_Gly1051insSerArgAla)
c.*2850_*2858dup (n.*2850_*2858dup)
c.3123_3131dup (p.Ala1044_Gly1045insSerArgAla)
c.3162_3170dup (p.Ala1057_Gly1058insSerArgAla)
c.3177_3185dup (p.Ala1062_Gly1063insSerArgAla)
n.3925_3933dup
c.3183_3191dup (p.Ala1064_Gly1065insSerArgAla)
c.3105_3113dup (p.Ala1038_Gly1039insSerArgAla)
c.3075_3083dup (p.Ala1028_Gly1029insSerArgAla)
c.3375_3383dup (p.Ala1128_Gly1129insSerArgAla)
c.3384_3392dup (p.Ala1131_Gly1132insSerArgAla)
c.2730_2738dup (p.Ala913_Gly914insSerArgAla)
c.3174_3182dup (p.Ala1061_Gly1062insSerArgAla)
 gnomAD v4
9g.135786260T>ACA375491570KCNT1c.3241T>A (p.Ser1081Thr)
c.3082T>A (p.Ser1028Thr)
c.2989T>A (p.Ser997Thr)
c.2998T>A (p.Ser1000Thr)
c.3142T>A (p.Ser1048Thr)
c.*2851T>A (n.*2851T>A)
c.3124T>A (p.Ser1042Thr)
c.3163T>A (p.Ser1055Thr)
c.3178T>A (p.Ser1060Thr)
n.3926T>A
c.3184T>A (p.Ser1062Thr)
c.3106T>A (p.Ser1036Thr)
c.3076T>A (p.Ser1026Thr)
c.3376T>A (p.Ser1126Thr)
c.3385T>A (p.Ser1129Thr)
c.2731T>A (p.Ser911Thr)
c.3175T>A (p.Ser1059Thr)
9g.135786260T>CCA375491569KCNT1c.3241T>C (p.Ser1081Pro)
c.3082T>C (p.Ser1028Pro)
c.2989T>C (p.Ser997Pro)
c.2998T>C (p.Ser1000Pro)
c.3142T>C (p.Ser1048Pro)
c.*2851T>C (n.*2851T>C)
c.3124T>C (p.Ser1042Pro)
c.3163T>C (p.Ser1055Pro)
c.3178T>C (p.Ser1060Pro)
n.3926T>C
c.3184T>C (p.Ser1062Pro)
c.3106T>C (p.Ser1036Pro)
c.3076T>C (p.Ser1026Pro)
c.3376T>C (p.Ser1126Pro)
c.3385T>C (p.Ser1129Pro)
c.2731T>C (p.Ser911Pro)
c.3175T>C (p.Ser1059Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135786260T>GCA375491568KCNT1c.3241T>G (p.Ser1081Ala)
c.3082T>G (p.Ser1028Ala)
c.2989T>G (p.Ser997Ala)
c.2998T>G (p.Ser1000Ala)
c.3142T>G (p.Ser1048Ala)
c.*2851T>G (n.*2851T>G)
c.3124T>G (p.Ser1042Ala)
c.3163T>G (p.Ser1055Ala)
c.3178T>G (p.Ser1060Ala)
n.3926T>G
c.3184T>G (p.Ser1062Ala)
c.3106T>G (p.Ser1036Ala)
c.3076T>G (p.Ser1026Ala)
c.3376T>G (p.Ser1126Ala)
c.3385T>G (p.Ser1129Ala)
c.2731T>G (p.Ser911Ala)
c.3175T>G (p.Ser1059Ala)
9g.135786260T=CA1883887584KCNT1c.3241T= (p.Ser1081=)
c.3082T= (p.Ser1028=)
c.2989T= (p.Ser997=)
c.2998T= (p.Ser1000=)
c.3142T= (p.Ser1048=)
c.*2851T= (n.*2851T=)
c.3124T= (p.Ser1042=)
c.3163T= (p.Ser1055=)
c.3178T= (p.Ser1060=)
n.3926T=
c.3184T= (p.Ser1062=)
c.3106T= (p.Ser1036=)
c.3076T= (p.Ser1026=)
c.3376T= (p.Ser1126=)
c.3385T= (p.Ser1129=)
c.2731T= (p.Ser911=)
c.3175T= (p.Ser1059=)
9g.135786261C>ACA375491571KCNT1c.3242C>A (p.Ser1081Tyr)
c.3083C>A (p.Ser1028Tyr)
c.2990C>A (p.Ser997Tyr)
c.2999C>A (p.Ser1000Tyr)
c.3143C>A (p.Ser1048Tyr)
c.*2852C>A (n.*2852C>A)
c.3125C>A (p.Ser1042Tyr)
c.3164C>A (p.Ser1055Tyr)
c.3179C>A (p.Ser1060Tyr)
n.3927C>A
c.3185C>A (p.Ser1062Tyr)
c.3107C>A (p.Ser1036Tyr)
c.3077C>A (p.Ser1026Tyr)
c.3377C>A (p.Ser1126Tyr)
c.3386C>A (p.Ser1129Tyr)
c.2732C>A (p.Ser911Tyr)
c.3176C>A (p.Ser1059Tyr)
 gnomAD v4
9g.135786261C>GCA375491573KCNT1c.3242C>G (p.Ser1081Cys)
c.3083C>G (p.Ser1028Cys)
c.2990C>G (p.Ser997Cys)
c.2999C>G (p.Ser1000Cys)
c.3143C>G (p.Ser1048Cys)
c.*2852C>G (n.*2852C>G)
c.3125C>G (p.Ser1042Cys)
c.3164C>G (p.Ser1055Cys)
c.3179C>G (p.Ser1060Cys)
n.3927C>G
c.3185C>G (p.Ser1062Cys)
c.3107C>G (p.Ser1036Cys)
c.3077C>G (p.Ser1026Cys)
c.3377C>G (p.Ser1126Cys)
c.3386C>G (p.Ser1129Cys)
c.2732C>G (p.Ser911Cys)
c.3176C>G (p.Ser1059Cys)
9g.135786261C>TCA375491572KCNT1c.3242C>T (p.Ser1081Phe)
c.3083C>T (p.Ser1028Phe)
c.2990C>T (p.Ser997Phe)
c.2999C>T (p.Ser1000Phe)
c.3143C>T (p.Ser1048Phe)
c.*2852C>T (n.*2852C>T)
c.3125C>T (p.Ser1042Phe)
c.3164C>T (p.Ser1055Phe)
c.3179C>T (p.Ser1060Phe)
n.3927C>T
c.3185C>T (p.Ser1062Phe)
c.3107C>T (p.Ser1036Phe)
c.3077C>T (p.Ser1026Phe)
c.3377C>T (p.Ser1126Phe)
c.3386C>T (p.Ser1129Phe)
c.2732C>T (p.Ser911Phe)
c.3176C>T (p.Ser1059Phe)
 gnomAD v4
9g.135786262C>ACA467821177KCNT1c.3243C>A (p.Ser1081=)
c.3084C>A (p.Ser1028=)
c.2991C>A (p.Ser997=)
c.3000C>A (p.Ser1000=)
c.3144C>A (p.Ser1048=)
c.*2853C>A (n.*2853C>A)
c.3126C>A (p.Ser1042=)
c.3165C>A (p.Ser1055=)
c.3180C>A (p.Ser1060=)
n.3928C>A
c.3186C>A (p.Ser1062=)
c.3108C>A (p.Ser1036=)
c.3078C>A (p.Ser1026=)
c.3378C>A (p.Ser1126=)
c.3387C>A (p.Ser1129=)
c.2733C>A (p.Ser911=)
c.3177C>A (p.Ser1059=)
9g.135786262C>GCA467821178KCNT1c.3243C>G (p.Ser1081=)
c.3084C>G (p.Ser1028=)
c.2991C>G (p.Ser997=)
c.3000C>G (p.Ser1000=)
c.3144C>G (p.Ser1048=)
c.*2853C>G (n.*2853C>G)
c.3126C>G (p.Ser1042=)
c.3165C>G (p.Ser1055=)
c.3180C>G (p.Ser1060=)
n.3928C>G
c.3186C>G (p.Ser1062=)
c.3108C>G (p.Ser1036=)
c.3078C>G (p.Ser1026=)
c.3378C>G (p.Ser1126=)
c.3387C>G (p.Ser1129=)
c.2733C>G (p.Ser911=)
c.3177C>G (p.Ser1059=)
9g.135786262C>TCA467821179KCNT1c.3243C>T (p.Ser1081=)
c.3084C>T (p.Ser1028=)
c.2991C>T (p.Ser997=)
c.3000C>T (p.Ser1000=)
c.3144C>T (p.Ser1048=)
c.*2853C>T (n.*2853C>T)
c.3126C>T (p.Ser1042=)
c.3165C>T (p.Ser1055=)
c.3180C>T (p.Ser1060=)
n.3928C>T
c.3186C>T (p.Ser1062=)
c.3108C>T (p.Ser1036=)
c.3078C>T (p.Ser1026=)
c.3378C>T (p.Ser1126=)
c.3387C>T (p.Ser1129=)
c.2733C>T (p.Ser911=)
c.3177C>T (p.Ser1059=)
 gnomAD v4 COSMIC COSMIC
9g.135786263C>ACA375491574KCNT1c.3244C>A (p.Arg1082Ser)
c.3085C>A (p.Arg1029Ser)
c.2992C>A (p.Arg998Ser)
c.3001C>A (p.Arg1001Ser)
c.3145C>A (p.Arg1049Ser)
c.*2854C>A (n.*2854C>A)
c.3127C>A (p.Arg1043Ser)
c.3166C>A (p.Arg1056Ser)
c.3181C>A (p.Arg1061Ser)
n.3929C>A
c.3187C>A (p.Arg1063Ser)
c.3109C>A (p.Arg1037Ser)
c.3079C>A (p.Arg1027Ser)
c.3379C>A (p.Arg1127Ser)
c.3388C>A (p.Arg1130Ser)
c.2734C>A (p.Arg912Ser)
c.3178C>A (p.Arg1060Ser)
9g.135786263C=CA1883887592KCNT1c.3244C= (p.Arg1082=)
c.3085C= (p.Arg1029=)
c.2992C= (p.Arg998=)
c.3001C= (p.Arg1001=)
c.3145C= (p.Arg1049=)
c.*2854C= (n.*2854C=)
c.3127C= (p.Arg1043=)
c.3166C= (p.Arg1056=)
c.3181C= (p.Arg1061=)
n.3929C=
c.3187C= (p.Arg1063=)
c.3109C= (p.Arg1037=)
c.3079C= (p.Arg1027=)
c.3379C= (p.Arg1127=)
c.3388C= (p.Arg1130=)
c.2734C= (p.Arg912=)
c.3178C= (p.Arg1060=)
9g.135786263C>GCA16612656KCNT1c.3244C>G (p.Arg1082Gly)
c.3085C>G (p.Arg1029Gly)
c.2992C>G (p.Arg998Gly)
c.3001C>G (p.Arg1001Gly)
c.3145C>G (p.Arg1049Gly)
c.*2854C>G (n.*2854C>G)
c.3127C>G (p.Arg1043Gly)
c.3166C>G (p.Arg1056Gly)
c.3181C>G (p.Arg1061Gly)
n.3929C>G
c.3187C>G (p.Arg1063Gly)
c.3109C>G (p.Arg1037Gly)
c.3079C>G (p.Arg1027Gly)
c.3379C>G (p.Arg1127Gly)
c.3388C>G (p.Arg1130Gly)
c.2734C>G (p.Arg912Gly)
c.3178C>G (p.Arg1060Gly)
 ClinVar dbSNP
9g.135786263C>TCA5327756KCNT1c.3244C>T (p.Arg1082Cys)
c.3085C>T (p.Arg1029Cys)
c.2992C>T (p.Arg998Cys)
c.3001C>T (p.Arg1001Cys)
c.3145C>T (p.Arg1049Cys)
c.*2854C>T (n.*2854C>T)
c.3127C>T (p.Arg1043Cys)
c.3166C>T (p.Arg1056Cys)
c.3181C>T (p.Arg1061Cys)
n.3929C>T
c.3187C>T (p.Arg1063Cys)
c.3109C>T (p.Arg1037Cys)
c.3079C>T (p.Arg1027Cys)
c.3379C>T (p.Arg1127Cys)
c.3388C>T (p.Arg1130Cys)
c.2734C>T (p.Arg912Cys)
c.3178C>T (p.Arg1060Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
9g.135786264G>ACA5327757KCNT1c.3245G>A (p.Arg1082His)
c.3086G>A (p.Arg1029His)
c.2993G>A (p.Arg998His)
c.3002G>A (p.Arg1001His)
c.3146G>A (p.Arg1049His)
c.*2855G>A (n.*2855G>A)
c.3128G>A (p.Arg1043His)
c.3167G>A (p.Arg1056His)
c.3182G>A (p.Arg1061His)
n.3930G>A
c.3188G>A (p.Arg1063His)
c.3110G>A (p.Arg1037His)
c.3080G>A (p.Arg1027His)
c.3380G>A (p.Arg1127His)
c.3389G>A (p.Arg1130His)
c.2735G>A (p.Arg912His)
c.3179G>A (p.Arg1060His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786264G>CCA375491576KCNT1c.3245G>C (p.Arg1082Pro)
c.3086G>C (p.Arg1029Pro)
c.2993G>C (p.Arg998Pro)
c.3002G>C (p.Arg1001Pro)
c.3146G>C (p.Arg1049Pro)
c.*2855G>C (n.*2855G>C)
c.3128G>C (p.Arg1043Pro)
c.3167G>C (p.Arg1056Pro)
c.3182G>C (p.Arg1061Pro)
n.3930G>C
c.3188G>C (p.Arg1063Pro)
c.3110G>C (p.Arg1037Pro)
c.3080G>C (p.Arg1027Pro)
c.3380G>C (p.Arg1127Pro)
c.3389G>C (p.Arg1130Pro)
c.2735G>C (p.Arg912Pro)
c.3179G>C (p.Arg1060Pro)
 gnomAD v4
9g.135786264G=CA1883887605KCNT1c.3245G= (p.Arg1082=)
c.3086G= (p.Arg1029=)
c.2993G= (p.Arg998=)
c.3002G= (p.Arg1001=)
c.3146G= (p.Arg1049=)
c.*2855G= (n.*2855G=)
c.3128G= (p.Arg1043=)
c.3167G= (p.Arg1056=)
c.3182G= (p.Arg1061=)
n.3930G=
c.3188G= (p.Arg1063=)
c.3110G= (p.Arg1037=)
c.3080G= (p.Arg1027=)
c.3380G= (p.Arg1127=)
c.3389G= (p.Arg1130=)
c.2735G= (p.Arg912=)
c.3179G= (p.Arg1060=)
9g.135786264G>TCA375491575KCNT1c.3245G>T (p.Arg1082Leu)
c.3086G>T (p.Arg1029Leu)
c.2993G>T (p.Arg998Leu)
c.3002G>T (p.Arg1001Leu)
c.3146G>T (p.Arg1049Leu)
c.*2855G>T (n.*2855G>T)
c.3128G>T (p.Arg1043Leu)
c.3167G>T (p.Arg1056Leu)
c.3182G>T (p.Arg1061Leu)
n.3930G>T
c.3188G>T (p.Arg1063Leu)
c.3110G>T (p.Arg1037Leu)
c.3080G>T (p.Arg1027Leu)
c.3380G>T (p.Arg1127Leu)
c.3389G>T (p.Arg1130Leu)
c.2735G>T (p.Arg912Leu)
c.3179G>T (p.Arg1060Leu)
9g.135786265C>ACA467821180KCNT1c.3246C>A (p.Arg1082=)
c.3087C>A (p.Arg1029=)
c.2994C>A (p.Arg998=)
c.3003C>A (p.Arg1001=)
c.3147C>A (p.Arg1049=)
c.*2856C>A (n.*2856C>A)
c.3129C>A (p.Arg1043=)
c.3168C>A (p.Arg1056=)
c.3183C>A (p.Arg1061=)
n.3931C>A
c.3189C>A (p.Arg1063=)
c.3111C>A (p.Arg1037=)
c.3081C>A (p.Arg1027=)
c.3381C>A (p.Arg1127=)
c.3390C>A (p.Arg1130=)
c.2736C>A (p.Arg912=)
c.3180C>A (p.Arg1060=)
9g.135786265C=CA1883887614KCNT1c.3246C= (p.Arg1082=)
c.3087C= (p.Arg1029=)
c.2994C= (p.Arg998=)
c.3003C= (p.Arg1001=)
c.3147C= (p.Arg1049=)
c.*2856C= (n.*2856C=)
c.3129C= (p.Arg1043=)
c.3168C= (p.Arg1056=)
c.3183C= (p.Arg1061=)
n.3931C=
c.3189C= (p.Arg1063=)
c.3111C= (p.Arg1037=)
c.3081C= (p.Arg1027=)
c.3381C= (p.Arg1127=)
c.3390C= (p.Arg1130=)
c.2736C= (p.Arg912=)
c.3180C= (p.Arg1060=)
9g.135786265C>GCA467821181KCNT1c.3246C>G (p.Arg1082=)
c.3087C>G (p.Arg1029=)
c.2994C>G (p.Arg998=)
c.3003C>G (p.Arg1001=)
c.3147C>G (p.Arg1049=)
c.*2856C>G (n.*2856C>G)
c.3129C>G (p.Arg1043=)
c.3168C>G (p.Arg1056=)
c.3183C>G (p.Arg1061=)
n.3931C>G
c.3189C>G (p.Arg1063=)
c.3111C>G (p.Arg1037=)
c.3081C>G (p.Arg1027=)
c.3381C>G (p.Arg1127=)
c.3390C>G (p.Arg1130=)
c.2736C>G (p.Arg912=)
c.3180C>G (p.Arg1060=)
9g.135786265C>TCA5327758KCNT1c.3246C>T (p.Arg1082=)
c.3087C>T (p.Arg1029=)
c.2994C>T (p.Arg998=)
c.3003C>T (p.Arg1001=)
c.3147C>T (p.Arg1049=)
c.*2856C>T (n.*2856C>T)
c.3129C>T (p.Arg1043=)
c.3168C>T (p.Arg1056=)
c.3183C>T (p.Arg1061=)
n.3931C>T
c.3189C>T (p.Arg1063=)
c.3111C>T (p.Arg1037=)
c.3081C>T (p.Arg1027=)
c.3381C>T (p.Arg1127=)
c.3390C>T (p.Arg1130=)
c.2736C>T (p.Arg912=)
c.3180C>T (p.Arg1060=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786266G>ACA201423852KCNT1c.3247G>A (p.Ala1083Thr)
c.3088G>A (p.Ala1030Thr)
c.2995G>A (p.Ala999Thr)
c.3004G>A (p.Ala1002Thr)
c.3148G>A (p.Ala1050Thr)
c.*2857G>A (n.*2857G>A)
c.3130G>A (p.Ala1044Thr)
c.3169G>A (p.Ala1057Thr)
c.3184G>A (p.Ala1062Thr)
n.3932G>A
c.3190G>A (p.Ala1064Thr)
c.3112G>A (p.Ala1038Thr)
c.3082G>A (p.Ala1028Thr)
c.3382G>A (p.Ala1128Thr)
c.3391G>A (p.Ala1131Thr)
c.2737G>A (p.Ala913Thr)
c.3181G>A (p.Ala1061Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135786266G>CCA375491577KCNT1c.3247G>C (p.Ala1083Pro)
c.3088G>C (p.Ala1030Pro)
c.2995G>C (p.Ala999Pro)
c.3004G>C (p.Ala1002Pro)
c.3148G>C (p.Ala1050Pro)
c.*2857G>C (n.*2857G>C)
c.3130G>C (p.Ala1044Pro)
c.3169G>C (p.Ala1057Pro)
c.3184G>C (p.Ala1062Pro)
n.3932G>C
c.3190G>C (p.Ala1064Pro)
c.3112G>C (p.Ala1038Pro)
c.3082G>C (p.Ala1028Pro)
c.3382G>C (p.Ala1128Pro)
c.3391G>C (p.Ala1131Pro)
c.2737G>C (p.Ala913Pro)
c.3181G>C (p.Ala1061Pro)
 ClinVar dbSNP
9g.135786266G=CA1883887627KCNT1c.3247G= (p.Ala1083=)
c.3088G= (p.Ala1030=)
c.2995G= (p.Ala999=)
c.3004G= (p.Ala1002=)
c.3148G= (p.Ala1050=)
c.*2857G= (n.*2857G=)
c.3130G= (p.Ala1044=)
c.3169G= (p.Ala1057=)
c.3184G= (p.Ala1062=)
n.3932G=
c.3190G= (p.Ala1064=)
c.3112G= (p.Ala1038=)
c.3082G= (p.Ala1028=)
c.3382G= (p.Ala1128=)
c.3391G= (p.Ala1131=)
c.2737G= (p.Ala913=)
c.3181G= (p.Ala1061=)
9g.135786266G>TCA375491578KCNT1c.3247G>T (p.Ala1083Ser)
c.3088G>T (p.Ala1030Ser)
c.2995G>T (p.Ala999Ser)
c.3004G>T (p.Ala1002Ser)
c.3148G>T (p.Ala1050Ser)
c.*2857G>T (n.*2857G>T)
c.3130G>T (p.Ala1044Ser)
c.3169G>T (p.Ala1057Ser)
c.3184G>T (p.Ala1062Ser)
n.3932G>T
c.3190G>T (p.Ala1064Ser)
c.3112G>T (p.Ala1038Ser)
c.3082G>T (p.Ala1028Ser)
c.3382G>T (p.Ala1128Ser)
c.3391G>T (p.Ala1131Ser)
c.2737G>T (p.Ala913Ser)
c.3181G>T (p.Ala1061Ser)
9g.135786267C>ACA375491579KCNT1c.3248C>A (p.Ala1083Asp)
c.3089C>A (p.Ala1030Asp)
c.2996C>A (p.Ala999Asp)
c.3005C>A (p.Ala1002Asp)
c.3149C>A (p.Ala1050Asp)
c.*2858C>A (n.*2858C>A)
c.3131C>A (p.Ala1044Asp)
c.3170C>A (p.Ala1057Asp)
c.3185C>A (p.Ala1062Asp)
n.3933C>A
c.3191C>A (p.Ala1064Asp)
c.3113C>A (p.Ala1038Asp)
c.3083C>A (p.Ala1028Asp)
c.3383C>A (p.Ala1128Asp)
c.3392C>A (p.Ala1131Asp)
c.2738C>A (p.Ala913Asp)
c.3182C>A (p.Ala1061Asp)
 gnomAD v4
9g.135786267C=CA1883887632KCNT1c.3248C= (p.Ala1083=)
c.3089C= (p.Ala1030=)
c.2996C= (p.Ala999=)
c.3005C= (p.Ala1002=)
c.3149C= (p.Ala1050=)
c.*2858C= (n.*2858C=)
c.3131C= (p.Ala1044=)
c.3170C= (p.Ala1057=)
c.3185C= (p.Ala1062=)
n.3933C=
c.3191C= (p.Ala1064=)
c.3113C= (p.Ala1038=)
c.3083C= (p.Ala1028=)
c.3383C= (p.Ala1128=)
c.3392C= (p.Ala1131=)
c.2738C= (p.Ala913=)
c.3182C= (p.Ala1061=)
9g.135786267C>GCA375491580KCNT1c.3248C>G (p.Ala1083Gly)
c.3089C>G (p.Ala1030Gly)
c.2996C>G (p.Ala999Gly)
c.3005C>G (p.Ala1002Gly)
c.3149C>G (p.Ala1050Gly)
c.*2858C>G (n.*2858C>G)
c.3131C>G (p.Ala1044Gly)
c.3170C>G (p.Ala1057Gly)
c.3185C>G (p.Ala1062Gly)
n.3933C>G
c.3191C>G (p.Ala1064Gly)
c.3113C>G (p.Ala1038Gly)
c.3083C>G (p.Ala1028Gly)
c.3383C>G (p.Ala1128Gly)
c.3392C>G (p.Ala1131Gly)
c.2738C>G (p.Ala913Gly)
c.3182C>G (p.Ala1061Gly)
9g.135786267C>TCA375491581KCNT1c.3248C>T (p.Ala1083Val)
c.3089C>T (p.Ala1030Val)
c.2996C>T (p.Ala999Val)
c.3005C>T (p.Ala1002Val)
c.3149C>T (p.Ala1050Val)
c.*2858C>T (n.*2858C>T)
c.3131C>T (p.Ala1044Val)
c.3170C>T (p.Ala1057Val)
c.3185C>T (p.Ala1062Val)
n.3933C>T
c.3191C>T (p.Ala1064Val)
c.3113C>T (p.Ala1038Val)
c.3083C>T (p.Ala1028Val)
c.3383C>T (p.Ala1128Val)
c.3392C>T (p.Ala1131Val)
c.2738C>T (p.Ala913Val)
c.3182C>T (p.Ala1061Val)
 dbSNP gnomAD v2 gnomAD v4
9g.135786268T>ACA467821184KCNT1c.3249T>A (p.Ala1083=)
c.3090T>A (p.Ala1030=)
c.2997T>A (p.Ala999=)
c.3006T>A (p.Ala1002=)
c.3150T>A (p.Ala1050=)
c.*2859T>A (n.*2859T>A)
c.3132T>A (p.Ala1044=)
c.3171T>A (p.Ala1057=)
c.3186T>A (p.Ala1062=)
n.3934T>A
c.3192T>A (p.Ala1064=)
c.3114T>A (p.Ala1038=)
c.3084T>A (p.Ala1028=)
c.3384T>A (p.Ala1128=)
c.3393T>A (p.Ala1131=)
c.2739T>A (p.Ala913=)
c.3183T>A (p.Ala1061=)
 gnomAD v4
9g.135786268T>CCA467821183KCNT1c.3249T>C (p.Ala1083=)
c.3090T>C (p.Ala1030=)
c.2997T>C (p.Ala999=)
c.3006T>C (p.Ala1002=)
c.3150T>C (p.Ala1050=)
c.*2859T>C (n.*2859T>C)
c.3132T>C (p.Ala1044=)
c.3171T>C (p.Ala1057=)
c.3186T>C (p.Ala1062=)
n.3934T>C
c.3192T>C (p.Ala1064=)
c.3114T>C (p.Ala1038=)
c.3084T>C (p.Ala1028=)
c.3384T>C (p.Ala1128=)
c.3393T>C (p.Ala1131=)
c.2739T>C (p.Ala913=)
c.3183T>C (p.Ala1061=)
9g.135786268T>GCA467821182KCNT1c.3249T>G (p.Ala1083=)
c.3090T>G (p.Ala1030=)
c.2997T>G (p.Ala999=)
c.3006T>G (p.Ala1002=)
c.3150T>G (p.Ala1050=)
c.*2859T>G (n.*2859T>G)
c.3132T>G (p.Ala1044=)
c.3171T>G (p.Ala1057=)
c.3186T>G (p.Ala1062=)
n.3934T>G
c.3192T>G (p.Ala1064=)
c.3114T>G (p.Ala1038=)
c.3084T>G (p.Ala1028=)
c.3384T>G (p.Ala1128=)
c.3393T>G (p.Ala1131=)
c.2739T>G (p.Ala913=)
c.3183T>G (p.Ala1061=)
9g.135786269G>ACA375491582KCNT1c.3250G>A (p.Gly1084Ser)
c.3091G>A (p.Gly1031Ser)
c.2998G>A (p.Gly1000Ser)
c.3007G>A (p.Gly1003Ser)
c.3151G>A (p.Gly1051Ser)
c.*2860G>A (n.*2860G>A)
c.3133G>A (p.Gly1045Ser)
c.3172G>A (p.Gly1058Ser)
c.3187G>A (p.Gly1063Ser)
n.3935G>A
c.3193G>A (p.Gly1065Ser)
c.3115G>A (p.Gly1039Ser)
c.3085G>A (p.Gly1029Ser)
c.3385G>A (p.Gly1129Ser)
c.3394G>A (p.Gly1132Ser)
c.2740G>A (p.Gly914Ser)
c.3184G>A (p.Gly1062Ser)
 gnomAD v4
9g.135786269G>CCA375491583KCNT1c.3250G>C (p.Gly1084Arg)
c.3091G>C (p.Gly1031Arg)
c.2998G>C (p.Gly1000Arg)
c.3007G>C (p.Gly1003Arg)
c.3151G>C (p.Gly1051Arg)
c.*2860G>C (n.*2860G>C)
c.3133G>C (p.Gly1045Arg)
c.3172G>C (p.Gly1058Arg)
c.3187G>C (p.Gly1063Arg)
n.3935G>C
c.3193G>C (p.Gly1065Arg)
c.3115G>C (p.Gly1039Arg)
c.3085G>C (p.Gly1029Arg)
c.3385G>C (p.Gly1129Arg)
c.3394G>C (p.Gly1132Arg)
c.2740G>C (p.Gly914Arg)
c.3184G>C (p.Gly1062Arg)
9g.135786269G>TCA375491584KCNT1c.3250G>T (p.Gly1084Cys)
c.3091G>T (p.Gly1031Cys)
c.2998G>T (p.Gly1000Cys)
c.3007G>T (p.Gly1003Cys)
c.3151G>T (p.Gly1051Cys)
c.*2860G>T (n.*2860G>T)
c.3133G>T (p.Gly1045Cys)
c.3172G>T (p.Gly1058Cys)
c.3187G>T (p.Gly1063Cys)
n.3935G>T
c.3193G>T (p.Gly1065Cys)
c.3115G>T (p.Gly1039Cys)
c.3085G>T (p.Gly1029Cys)
c.3385G>T (p.Gly1129Cys)
c.3394G>T (p.Gly1132Cys)
c.2740G>T (p.Gly914Cys)
c.3184G>T (p.Gly1062Cys)
9g.135786270G>ACA375491585KCNT1c.3251G>A (p.Gly1084Asp)
c.3092G>A (p.Gly1031Asp)
c.2999G>A (p.Gly1000Asp)
c.3008G>A (p.Gly1003Asp)
c.3152G>A (p.Gly1051Asp)
c.*2861G>A (n.*2861G>A)
c.3134G>A (p.Gly1045Asp)
c.3173G>A (p.Gly1058Asp)
c.3188G>A (p.Gly1063Asp)
n.3936G>A
c.3194G>A (p.Gly1065Asp)
c.3116G>A (p.Gly1039Asp)
c.3086G>A (p.Gly1029Asp)
c.3386G>A (p.Gly1129Asp)
c.3395G>A (p.Gly1132Asp)
c.2741G>A (p.Gly914Asp)
c.3185G>A (p.Gly1062Asp)
9g.135786270G>CCA375491586KCNT1c.3251G>C (p.Gly1084Ala)
c.3092G>C (p.Gly1031Ala)
c.2999G>C (p.Gly1000Ala)
c.3008G>C (p.Gly1003Ala)
c.3152G>C (p.Gly1051Ala)
c.*2861G>C (n.*2861G>C)
c.3134G>C (p.Gly1045Ala)
c.3173G>C (p.Gly1058Ala)
c.3188G>C (p.Gly1063Ala)
n.3936G>C
c.3194G>C (p.Gly1065Ala)
c.3116G>C (p.Gly1039Ala)
c.3086G>C (p.Gly1029Ala)
c.3386G>C (p.Gly1129Ala)
c.3395G>C (p.Gly1132Ala)
c.2741G>C (p.Gly914Ala)
c.3185G>C (p.Gly1062Ala)
9g.135786270G>TCA375491587KCNT1c.3251G>T (p.Gly1084Val)
c.3092G>T (p.Gly1031Val)
c.2999G>T (p.Gly1000Val)
c.3008G>T (p.Gly1003Val)
c.3152G>T (p.Gly1051Val)
c.*2861G>T (n.*2861G>T)
c.3134G>T (p.Gly1045Val)
c.3173G>T (p.Gly1058Val)
c.3188G>T (p.Gly1063Val)
n.3936G>T
c.3194G>T (p.Gly1065Val)
c.3116G>T (p.Gly1039Val)
c.3086G>T (p.Gly1029Val)
c.3386G>T (p.Gly1129Val)
c.3395G>T (p.Gly1132Val)
c.2741G>T (p.Gly914Val)
c.3185G>T (p.Gly1062Val)
9g.135786271C>ACA467821186KCNT1c.3252C>A (p.Gly1084=)
c.3093C>A (p.Gly1031=)
c.3000C>A (p.Gly1000=)
c.3009C>A (p.Gly1003=)
c.3153C>A (p.Gly1051=)
c.*2862C>A (n.*2862C>A)
c.3135C>A (p.Gly1045=)
c.3174C>A (p.Gly1058=)
c.3189C>A (p.Gly1063=)
n.3937C>A
c.3195C>A (p.Gly1065=)
c.3117C>A (p.Gly1039=)
c.3087C>A (p.Gly1029=)
c.3387C>A (p.Gly1129=)
c.3396C>A (p.Gly1132=)
c.2742C>A (p.Gly914=)
c.3186C>A (p.Gly1062=)
 gnomAD v4
9g.135786271C=CA1883887635KCNT1c.3252C= (p.Gly1084=)
c.3093C= (p.Gly1031=)
c.3000C= (p.Gly1000=)
c.3009C= (p.Gly1003=)
c.3153C= (p.Gly1051=)
c.*2862C= (n.*2862C=)
c.3135C= (p.Gly1045=)
c.3174C= (p.Gly1058=)
c.3189C= (p.Gly1063=)
n.3937C=
c.3195C= (p.Gly1065=)
c.3117C= (p.Gly1039=)
c.3087C= (p.Gly1029=)
c.3387C= (p.Gly1129=)
c.3396C= (p.Gly1132=)
c.2742C= (p.Gly914=)
c.3186C= (p.Gly1062=)
9g.135786271C>GCA467821185KCNT1c.3252C>G (p.Gly1084=)
c.3093C>G (p.Gly1031=)
c.3000C>G (p.Gly1000=)
c.3009C>G (p.Gly1003=)
c.3153C>G (p.Gly1051=)
c.*2862C>G (n.*2862C>G)
c.3135C>G (p.Gly1045=)
c.3174C>G (p.Gly1058=)
c.3189C>G (p.Gly1063=)
n.3937C>G
c.3195C>G (p.Gly1065=)
c.3117C>G (p.Gly1039=)
c.3087C>G (p.Gly1029=)
c.3387C>G (p.Gly1129=)
c.3396C>G (p.Gly1132=)
c.2742C>G (p.Gly914=)
c.3186C>G (p.Gly1062=)
9g.135786271C>TCA201423854KCNT1c.3252C>T (p.Gly1084=)
c.3093C>T (p.Gly1031=)
c.3000C>T (p.Gly1000=)
c.3009C>T (p.Gly1003=)
c.3153C>T (p.Gly1051=)
c.*2862C>T (n.*2862C>T)
c.3135C>T (p.Gly1045=)
c.3174C>T (p.Gly1058=)
c.3189C>T (p.Gly1063=)
n.3937C>T
c.3195C>T (p.Gly1065=)
c.3117C>T (p.Gly1039=)
c.3087C>T (p.Gly1029=)
c.3387C>T (p.Gly1129=)
c.3396C>T (p.Gly1132=)
c.2742C>T (p.Gly914=)
c.3186C>T (p.Gly1062=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135786272A>CCA375491590KCNT1c.3253A>C (p.Thr1085Pro)
c.3094A>C (p.Thr1032Pro)
c.3001A>C (p.Thr1001Pro)
c.3010A>C (p.Thr1004Pro)
c.3154A>C (p.Thr1052Pro)
c.*2863A>C (n.*2863A>C)
c.3136A>C (p.Thr1046Pro)
c.3175A>C (p.Thr1059Pro)
c.3190A>C (p.Thr1064Pro)
n.3938A>C
c.3196A>C (p.Thr1066Pro)
c.3118A>C (p.Thr1040Pro)
c.3088A>C (p.Thr1030Pro)
c.3388A>C (p.Thr1130Pro)
c.3397A>C (p.Thr1133Pro)
c.2743A>C (p.Thr915Pro)
c.3187A>C (p.Thr1063Pro)
9g.135786272A>GCA375491588KCNT1c.3253A>G (p.Thr1085Ala)
c.3094A>G (p.Thr1032Ala)
c.3001A>G (p.Thr1001Ala)
c.3010A>G (p.Thr1004Ala)
c.3154A>G (p.Thr1052Ala)
c.*2863A>G (n.*2863A>G)
c.3136A>G (p.Thr1046Ala)
c.3175A>G (p.Thr1059Ala)
c.3190A>G (p.Thr1064Ala)
n.3938A>G
c.3196A>G (p.Thr1066Ala)
c.3118A>G (p.Thr1040Ala)
c.3088A>G (p.Thr1030Ala)
c.3388A>G (p.Thr1130Ala)
c.3397A>G (p.Thr1133Ala)
c.2743A>G (p.Thr915Ala)
c.3187A>G (p.Thr1063Ala)
9g.135786272A>TCA375491589KCNT1c.3253A>T (p.Thr1085Ser)
c.3094A>T (p.Thr1032Ser)
c.3001A>T (p.Thr1001Ser)
c.3010A>T (p.Thr1004Ser)
c.3154A>T (p.Thr1052Ser)
c.*2863A>T (n.*2863A>T)
c.3136A>T (p.Thr1046Ser)
c.3175A>T (p.Thr1059Ser)
c.3190A>T (p.Thr1064Ser)
n.3938A>T
c.3196A>T (p.Thr1066Ser)
c.3118A>T (p.Thr1040Ser)
c.3088A>T (p.Thr1030Ser)
c.3388A>T (p.Thr1130Ser)
c.3397A>T (p.Thr1133Ser)
c.2743A>T (p.Thr915Ser)
c.3187A>T (p.Thr1063Ser)
9g.135786273C>ACA375491591KCNT1c.3254C>A (p.Thr1085Asn)
c.3095C>A (p.Thr1032Asn)
c.3002C>A (p.Thr1001Asn)
c.3011C>A (p.Thr1004Asn)
c.3155C>A (p.Thr1052Asn)
c.*2864C>A (n.*2864C>A)
c.3137C>A (p.Thr1046Asn)
c.3176C>A (p.Thr1059Asn)
c.3191C>A (p.Thr1064Asn)
n.3939C>A
c.3197C>A (p.Thr1066Asn)
c.3119C>A (p.Thr1040Asn)
c.3089C>A (p.Thr1030Asn)
c.3389C>A (p.Thr1130Asn)
c.3398C>A (p.Thr1133Asn)
c.2744C>A (p.Thr915Asn)
c.3188C>A (p.Thr1063Asn)
9g.135786273C=CA1883887641KCNT1c.3254C= (p.Thr1085=)
c.3095C= (p.Thr1032=)
c.3002C= (p.Thr1001=)
c.3011C= (p.Thr1004=)
c.3155C= (p.Thr1052=)
c.*2864C= (n.*2864C=)
c.3137C= (p.Thr1046=)
c.3176C= (p.Thr1059=)
c.3191C= (p.Thr1064=)
n.3939C=
c.3197C= (p.Thr1066=)
c.3119C= (p.Thr1040=)
c.3089C= (p.Thr1030=)
c.3389C= (p.Thr1130=)
c.3398C= (p.Thr1133=)
c.2744C= (p.Thr915=)
c.3188C= (p.Thr1063=)
9g.135786273C>GCA375491592KCNT1c.3254C>G (p.Thr1085Ser)
c.3095C>G (p.Thr1032Ser)
c.3002C>G (p.Thr1001Ser)
c.3011C>G (p.Thr1004Ser)
c.3155C>G (p.Thr1052Ser)
c.*2864C>G (n.*2864C>G)
c.3137C>G (p.Thr1046Ser)
c.3176C>G (p.Thr1059Ser)
c.3191C>G (p.Thr1064Ser)
n.3939C>G
c.3197C>G (p.Thr1066Ser)
c.3119C>G (p.Thr1040Ser)
c.3089C>G (p.Thr1030Ser)
c.3389C>G (p.Thr1130Ser)
c.3398C>G (p.Thr1133Ser)
c.2744C>G (p.Thr915Ser)
c.3188C>G (p.Thr1063Ser)
9g.135786273C>TCA375491593KCNT1c.3254C>T (p.Thr1085Ile)
c.3095C>T (p.Thr1032Ile)
c.3002C>T (p.Thr1001Ile)
c.3011C>T (p.Thr1004Ile)
c.3155C>T (p.Thr1052Ile)
c.*2864C>T (n.*2864C>T)
c.3137C>T (p.Thr1046Ile)
c.3176C>T (p.Thr1059Ile)
c.3191C>T (p.Thr1064Ile)
n.3939C>T
c.3197C>T (p.Thr1066Ile)
c.3119C>T (p.Thr1040Ile)
c.3089C>T (p.Thr1030Ile)
c.3389C>T (p.Thr1130Ile)
c.3398C>T (p.Thr1133Ile)
c.2744C>T (p.Thr915Ile)
c.3188C>T (p.Thr1063Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135786274C>ACA467821187KCNT1c.3255C>A (p.Thr1085=)
c.3096C>A (p.Thr1032=)
c.3003C>A (p.Thr1001=)
c.3012C>A (p.Thr1004=)
c.3156C>A (p.Thr1052=)
c.*2865C>A (n.*2865C>A)
c.3138C>A (p.Thr1046=)
c.3177C>A (p.Thr1059=)
c.3192C>A (p.Thr1064=)
n.3940C>A
c.3198C>A (p.Thr1066=)
c.3120C>A (p.Thr1040=)
c.3090C>A (p.Thr1030=)
c.3390C>A (p.Thr1130=)
c.3399C>A (p.Thr1133=)
c.2745C>A (p.Thr915=)
c.3189C>A (p.Thr1063=)
9g.135786274C=CA1883887647KCNT1c.3255C= (p.Thr1085=)
c.3096C= (p.Thr1032=)
c.3003C= (p.Thr1001=)
c.3012C= (p.Thr1004=)
c.3156C= (p.Thr1052=)
c.*2865C= (n.*2865C=)
c.3138C= (p.Thr1046=)
c.3177C= (p.Thr1059=)
c.3192C= (p.Thr1064=)
n.3940C=
c.3198C= (p.Thr1066=)
c.3120C= (p.Thr1040=)
c.3090C= (p.Thr1030=)
c.3390C= (p.Thr1130=)
c.3399C= (p.Thr1133=)
c.2745C= (p.Thr915=)
c.3189C= (p.Thr1063=)
9g.135786274C>GCA467821188KCNT1c.3255C>G (p.Thr1085=)
c.3096C>G (p.Thr1032=)
c.3003C>G (p.Thr1001=)
c.3012C>G (p.Thr1004=)
c.3156C>G (p.Thr1052=)
c.*2865C>G (n.*2865C>G)
c.3138C>G (p.Thr1046=)
c.3177C>G (p.Thr1059=)
c.3192C>G (p.Thr1064=)
n.3940C>G
c.3198C>G (p.Thr1066=)
c.3120C>G (p.Thr1040=)
c.3090C>G (p.Thr1030=)
c.3390C>G (p.Thr1130=)
c.3399C>G (p.Thr1133=)
c.2745C>G (p.Thr915=)
c.3189C>G (p.Thr1063=)
9g.135786274C>TCA5327759KCNT1c.3255C>T (p.Thr1085=)
c.3096C>T (p.Thr1032=)
c.3003C>T (p.Thr1001=)
c.3012C>T (p.Thr1004=)
c.3156C>T (p.Thr1052=)
c.*2865C>T (n.*2865C>T)
c.3138C>T (p.Thr1046=)
c.3177C>T (p.Thr1059=)
c.3192C>T (p.Thr1064=)
n.3940C>T
c.3198C>T (p.Thr1066=)
c.3120C>T (p.Thr1040=)
c.3090C>T (p.Thr1030=)
c.3390C>T (p.Thr1130=)
c.3399C>T (p.Thr1133=)
c.2745C>T (p.Thr915=)
c.3189C>T (p.Thr1063=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786275G>ACA5327760KCNT1c.3256G>A (p.Gly1086Arg)
c.3097G>A (p.Gly1033Arg)
c.3004G>A (p.Gly1002Arg)
c.3013G>A (p.Gly1005Arg)
c.3157G>A (p.Gly1053Arg)
c.*2866G>A (n.*2866G>A)
c.3139G>A (p.Gly1047Arg)
c.3178G>A (p.Gly1060Arg)
c.3193G>A (p.Gly1065Arg)
n.3941G>A
c.3199G>A (p.Gly1067Arg)
c.3121G>A (p.Gly1041Arg)
c.3091G>A (p.Gly1031Arg)
c.3391G>A (p.Gly1131Arg)
c.3400G>A (p.Gly1134Arg)
c.2746G>A (p.Gly916Arg)
c.3190G>A (p.Gly1064Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786275G>CCA375491594KCNT1c.3256G>C (p.Gly1086Arg)
c.3097G>C (p.Gly1033Arg)
c.3004G>C (p.Gly1002Arg)
c.3013G>C (p.Gly1005Arg)
c.3157G>C (p.Gly1053Arg)
c.*2866G>C (n.*2866G>C)
c.3139G>C (p.Gly1047Arg)
c.3178G>C (p.Gly1060Arg)
c.3193G>C (p.Gly1065Arg)
n.3941G>C
c.3199G>C (p.Gly1067Arg)
c.3121G>C (p.Gly1041Arg)
c.3091G>C (p.Gly1031Arg)
c.3391G>C (p.Gly1131Arg)
c.3400G>C (p.Gly1134Arg)
c.2746G>C (p.Gly916Arg)
c.3190G>C (p.Gly1064Arg)
9g.135786275G=CA1883887655KCNT1c.3256G= (p.Gly1086=)
c.3097G= (p.Gly1033=)
c.3004G= (p.Gly1002=)
c.3013G= (p.Gly1005=)
c.3157G= (p.Gly1053=)
c.*2866G= (n.*2866G=)
c.3139G= (p.Gly1047=)
c.3178G= (p.Gly1060=)
c.3193G= (p.Gly1065=)
n.3941G=
c.3199G= (p.Gly1067=)
c.3121G= (p.Gly1041=)
c.3091G= (p.Gly1031=)
c.3391G= (p.Gly1131=)
c.3400G= (p.Gly1134=)
c.2746G= (p.Gly916=)
c.3190G= (p.Gly1064=)
9g.135786275G>TCA375491595KCNT1c.3256G>T (p.Gly1086Ter)
c.3097G>T (p.Gly1033Ter)
c.3004G>T (p.Gly1002Ter)
c.3013G>T (p.Gly1005Ter)
c.3157G>T (p.Gly1053Ter)
c.*2866G>T (n.*2866G>T)
c.3139G>T (p.Gly1047Ter)
c.3178G>T (p.Gly1060Ter)
c.3193G>T (p.Gly1065Ter)
n.3941G>T
c.3199G>T (p.Gly1067Ter)
c.3121G>T (p.Gly1041Ter)
c.3091G>T (p.Gly1031Ter)
c.3391G>T (p.Gly1131Ter)
c.3400G>T (p.Gly1134Ter)
c.2746G>T (p.Gly916Ter)
c.3190G>T (p.Gly1064Ter)
9g.135786276G>ACA375491596KCNT1c.3257G>A (p.Gly1086Glu)
c.3098G>A (p.Gly1033Glu)
c.3005G>A (p.Gly1002Glu)
c.3014G>A (p.Gly1005Glu)
c.3158G>A (p.Gly1053Glu)
c.*2867G>A (n.*2867G>A)
c.3140G>A (p.Gly1047Glu)
c.3179G>A (p.Gly1060Glu)
c.3194G>A (p.Gly1065Glu)
n.3942G>A
c.3200G>A (p.Gly1067Glu)
c.3122G>A (p.Gly1041Glu)
c.3092G>A (p.Gly1031Glu)
c.3392G>A (p.Gly1131Glu)
c.3401G>A (p.Gly1134Glu)
c.2747G>A (p.Gly916Glu)
c.3191G>A (p.Gly1064Glu)
9g.135786276G>CCA375491597KCNT1c.3257G>C (p.Gly1086Ala)
c.3098G>C (p.Gly1033Ala)
c.3005G>C (p.Gly1002Ala)
c.3014G>C (p.Gly1005Ala)
c.3158G>C (p.Gly1053Ala)
c.*2867G>C (n.*2867G>C)
c.3140G>C (p.Gly1047Ala)
c.3179G>C (p.Gly1060Ala)
c.3194G>C (p.Gly1065Ala)
n.3942G>C
c.3200G>C (p.Gly1067Ala)
c.3122G>C (p.Gly1041Ala)
c.3092G>C (p.Gly1031Ala)
c.3392G>C (p.Gly1131Ala)
c.3401G>C (p.Gly1134Ala)
c.2747G>C (p.Gly916Ala)
c.3191G>C (p.Gly1064Ala)
9g.135786276G>TCA375491598KCNT1c.3257G>T (p.Gly1086Val)
c.3098G>T (p.Gly1033Val)
c.3005G>T (p.Gly1002Val)
c.3014G>T (p.Gly1005Val)
c.3158G>T (p.Gly1053Val)
c.*2867G>T (n.*2867G>T)
c.3140G>T (p.Gly1047Val)
c.3179G>T (p.Gly1060Val)
c.3194G>T (p.Gly1065Val)
n.3942G>T
c.3200G>T (p.Gly1067Val)
c.3122G>T (p.Gly1041Val)
c.3092G>T (p.Gly1031Val)
c.3392G>T (p.Gly1131Val)
c.3401G>T (p.Gly1134Val)
c.2747G>T (p.Gly916Val)
c.3191G>T (p.Gly1064Val)
 gnomAD v4
9g.135786277A>CCA467821189KCNT1c.3258A>C (p.Gly1086=)
c.3099A>C (p.Gly1033=)
c.3006A>C (p.Gly1002=)
c.3015A>C (p.Gly1005=)
c.3159A>C (p.Gly1053=)
c.*2868A>C (n.*2868A>C)
c.3141A>C (p.Gly1047=)
c.3180A>C (p.Gly1060=)
c.3195A>C (p.Gly1065=)
n.3943A>C
c.3201A>C (p.Gly1067=)
c.3123A>C (p.Gly1041=)
c.3093A>C (p.Gly1031=)
c.3393A>C (p.Gly1131=)
c.3402A>C (p.Gly1134=)
c.2748A>C (p.Gly916=)
c.3192A>C (p.Gly1064=)
9g.135786277A>GCA467821190KCNT1c.3258A>G (p.Gly1086=)
c.3099A>G (p.Gly1033=)
c.3006A>G (p.Gly1002=)
c.3015A>G (p.Gly1005=)
c.3159A>G (p.Gly1053=)
c.*2868A>G (n.*2868A>G)
c.3141A>G (p.Gly1047=)
c.3180A>G (p.Gly1060=)
c.3195A>G (p.Gly1065=)
n.3943A>G
c.3201A>G (p.Gly1067=)
c.3123A>G (p.Gly1041=)
c.3093A>G (p.Gly1031=)
c.3393A>G (p.Gly1131=)
c.3402A>G (p.Gly1134=)
c.2748A>G (p.Gly916=)
c.3192A>G (p.Gly1064=)
 gnomAD v4
9g.135786277A>TCA467821191KCNT1c.3258A>T (p.Gly1086=)
c.3099A>T (p.Gly1033=)
c.3006A>T (p.Gly1002=)
c.3015A>T (p.Gly1005=)
c.3159A>T (p.Gly1053=)
c.*2868A>T (n.*2868A>T)
c.3141A>T (p.Gly1047=)
c.3180A>T (p.Gly1060=)
c.3195A>T (p.Gly1065=)
n.3943A>T
c.3201A>T (p.Gly1067=)
c.3123A>T (p.Gly1041=)
c.3093A>T (p.Gly1031=)
c.3393A>T (p.Gly1131=)
c.3402A>T (p.Gly1134=)
c.2748A>T (p.Gly916=)
c.3192A>T (p.Gly1064=)
9g.135786277_135786278delinsAGCA1883887658KCNT1c.3258_3259delinsAG (p.Gly1086=)
c.3099_3100delinsAG (p.Gly1033=)
c.3006_3007delinsAG (p.Gly1002=)
c.3015_3016delinsAG (p.Gly1005=)
c.3159_3160delinsAG (p.Gly1053=)
c.*2868_*2869delinsAG (n.*2868_*2869delinsAG)
c.3141_3142delinsAG (p.Gly1047=)
c.3180_3181delinsAG (p.Gly1060=)
c.3195_3196delinsAG (p.Gly1065=)
n.3943_3944delinsAG
c.3201_3202delinsAG (p.Gly1067=)
c.3123_3124delinsAG (p.Gly1041=)
c.3093_3094delinsAG (p.Gly1031=)
c.3393_3394delinsAG (p.Gly1131=)
c.3402_3403delinsAG (p.Gly1134=)
c.2748_2749delinsAG (p.Gly916=)
c.3192_3193delinsAG (p.Gly1064=)
9g.135786278G>ACA375491600KCNT1c.3259G>A (p.Gly1087Ser)
c.3100G>A (p.Gly1034Ser)
c.3007G>A (p.Gly1003Ser)
c.3016G>A (p.Gly1006Ser)
c.3160G>A (p.Gly1054Ser)
c.*2869G>A (n.*2869G>A)
c.3142G>A (p.Gly1048Ser)
c.3181G>A (p.Gly1061Ser)
c.3196G>A (p.Gly1066Ser)
n.3944G>A
c.3202G>A (p.Gly1068Ser)
c.3124G>A (p.Gly1042Ser)
c.3094G>A (p.Gly1032Ser)
c.3394G>A (p.Gly1132Ser)
c.3403G>A (p.Gly1135Ser)
c.2749G>A (p.Gly917Ser)
c.3193G>A (p.Gly1065Ser)
9g.135786278G>CCA375491601KCNT1c.3259G>C (p.Gly1087Arg)
c.3100G>C (p.Gly1034Arg)
c.3007G>C (p.Gly1003Arg)
c.3016G>C (p.Gly1006Arg)
c.3160G>C (p.Gly1054Arg)
c.*2869G>C (n.*2869G>C)
c.3142G>C (p.Gly1048Arg)
c.3181G>C (p.Gly1061Arg)
c.3196G>C (p.Gly1066Arg)
n.3944G>C
c.3202G>C (p.Gly1068Arg)
c.3124G>C (p.Gly1042Arg)
c.3094G>C (p.Gly1032Arg)
c.3394G>C (p.Gly1132Arg)
c.3403G>C (p.Gly1135Arg)
c.2749G>C (p.Gly917Arg)
c.3193G>C (p.Gly1065Arg)
9g.135786278G>TCA375491599KCNT1c.3259G>T (p.Gly1087Cys)
c.3100G>T (p.Gly1034Cys)
c.3007G>T (p.Gly1003Cys)
c.3016G>T (p.Gly1006Cys)
c.3160G>T (p.Gly1054Cys)
c.*2869G>T (n.*2869G>T)
c.3142G>T (p.Gly1048Cys)
c.3181G>T (p.Gly1061Cys)
c.3196G>T (p.Gly1066Cys)
n.3944G>T
c.3202G>T (p.Gly1068Cys)
c.3124G>T (p.Gly1042Cys)
c.3094G>T (p.Gly1032Cys)
c.3394G>T (p.Gly1132Cys)
c.3403G>T (p.Gly1135Cys)
c.2749G>T (p.Gly917Cys)
c.3193G>T (p.Gly1065Cys)
 COSMIC COSMIC
9g.135786279delCA5327761KCNT1c.3260del (p.Gly1087AlafsTer30)
c.3101del (p.Gly1034AlafsTer30)
c.3008del (p.Gly1003AlafsTer30)
c.3017del (p.Gly1006AlafsTer30)
c.3161del (p.Gly1054AlafsTer30)
c.*2870del (n.*2870del)
c.3143del (p.Gly1048AlafsTer30)
c.3182del (p.Gly1061AlafsTer30)
c.3197del (p.Gly1066AlafsTer30)
n.3945del
c.3203del (p.Gly1068AlafsTer30)
c.3125del (p.Gly1042AlafsTer30)
c.3095del (p.Gly1032AlafsTer30)
c.3395del (p.Gly1132AlafsTer30)
c.3404del (p.Gly1135AlafsTer30)
c.2750del (p.Gly917AlafsTer30)
c.3194del (p.Gly1065AlafsTer30)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135786279G>ACA375491602KCNT1c.3260G>A (p.Gly1087Asp)
c.3101G>A (p.Gly1034Asp)
c.3008G>A (p.Gly1003Asp)
c.3017G>A (p.Gly1006Asp)
c.3161G>A (p.Gly1054Asp)
c.*2870G>A (n.*2870G>A)
c.3143G>A (p.Gly1048Asp)
c.3182G>A (p.Gly1061Asp)
c.3197G>A (p.Gly1066Asp)
n.3945G>A
c.3203G>A (p.Gly1068Asp)
c.3125G>A (p.Gly1042Asp)
c.3095G>A (p.Gly1032Asp)
c.3395G>A (p.Gly1132Asp)
c.3404G>A (p.Gly1135Asp)
c.2750G>A (p.Gly917Asp)
c.3194G>A (p.Gly1065Asp)
 ClinVar dbSNP
9g.135786279G>CCA375491603KCNT1c.3260G>C (p.Gly1087Ala)
c.3101G>C (p.Gly1034Ala)
c.3008G>C (p.Gly1003Ala)
c.3017G>C (p.Gly1006Ala)
c.3161G>C (p.Gly1054Ala)
c.*2870G>C (n.*2870G>C)
c.3143G>C (p.Gly1048Ala)
c.3182G>C (p.Gly1061Ala)
c.3197G>C (p.Gly1066Ala)
n.3945G>C
c.3203G>C (p.Gly1068Ala)
c.3125G>C (p.Gly1042Ala)
c.3095G>C (p.Gly1032Ala)
c.3395G>C (p.Gly1132Ala)
c.3404G>C (p.Gly1135Ala)
c.2750G>C (p.Gly917Ala)
c.3194G>C (p.Gly1065Ala)
9g.135786279G=CA1883887663KCNT1c.3260G= (p.Gly1087=)
c.3101G= (p.Gly1034=)
c.3008G= (p.Gly1003=)
c.3017G= (p.Gly1006=)
c.3161G= (p.Gly1054=)
c.*2870G= (n.*2870G=)
c.3143G= (p.Gly1048=)
c.3182G= (p.Gly1061=)
c.3197G= (p.Gly1066=)
n.3945G=
c.3203G= (p.Gly1068=)
c.3125G= (p.Gly1042=)
c.3095G= (p.Gly1032=)
c.3395G= (p.Gly1132=)
c.3404G= (p.Gly1135=)
c.2750G= (p.Gly917=)
c.3194G= (p.Gly1065=)
9g.135786279G>TCA375491604KCNT1c.3260G>T (p.Gly1087Val)
c.3101G>T (p.Gly1034Val)
c.3008G>T (p.Gly1003Val)
c.3017G>T (p.Gly1006Val)
c.3161G>T (p.Gly1054Val)
c.*2870G>T (n.*2870G>T)
c.3143G>T (p.Gly1048Val)
c.3182G>T (p.Gly1061Val)
c.3197G>T (p.Gly1066Val)
n.3945G>T
c.3203G>T (p.Gly1068Val)
c.3125G>T (p.Gly1042Val)
c.3095G>T (p.Gly1032Val)
c.3395G>T (p.Gly1132Val)
c.3404G>T (p.Gly1135Val)
c.2750G>T (p.Gly917Val)
c.3194G>T (p.Gly1065Val)
 gnomAD v4
9g.135786280C>ACA467821192KCNT1c.3261C>A (p.Gly1087=)
c.3102C>A (p.Gly1034=)
c.3009C>A (p.Gly1003=)
c.3018C>A (p.Gly1006=)
c.3162C>A (p.Gly1054=)
c.*2871C>A (n.*2871C>A)
c.3144C>A (p.Gly1048=)
c.3183C>A (p.Gly1061=)
c.3198C>A (p.Gly1066=)
n.3946C>A
c.3204C>A (p.Gly1068=)
c.3126C>A (p.Gly1042=)
c.3096C>A (p.Gly1032=)
c.3396C>A (p.Gly1132=)
c.3405C>A (p.Gly1135=)
c.2751C>A (p.Gly917=)
c.3195C>A (p.Gly1065=)
9g.135786280C=CA1883887668KCNT1c.3261C= (p.Gly1087=)
c.3102C= (p.Gly1034=)
c.3009C= (p.Gly1003=)
c.3018C= (p.Gly1006=)
c.3162C= (p.Gly1054=)
c.*2871C= (n.*2871C=)
c.3144C= (p.Gly1048=)
c.3183C= (p.Gly1061=)
c.3198C= (p.Gly1066=)
n.3946C=
c.3204C= (p.Gly1068=)
c.3126C= (p.Gly1042=)
c.3096C= (p.Gly1032=)
c.3396C= (p.Gly1132=)
c.3405C= (p.Gly1135=)
c.2751C= (p.Gly917=)
c.3195C= (p.Gly1065=)
9g.135786280C>GCA467821193KCNT1c.3261C>G (p.Gly1087=)
c.3102C>G (p.Gly1034=)
c.3009C>G (p.Gly1003=)
c.3018C>G (p.Gly1006=)
c.3162C>G (p.Gly1054=)
c.*2871C>G (n.*2871C>G)
c.3144C>G (p.Gly1048=)
c.3183C>G (p.Gly1061=)
c.3198C>G (p.Gly1066=)
n.3946C>G
c.3204C>G (p.Gly1068=)
c.3126C>G (p.Gly1042=)
c.3096C>G (p.Gly1032=)
c.3396C>G (p.Gly1132=)
c.3405C>G (p.Gly1135=)
c.2751C>G (p.Gly917=)
c.3195C>G (p.Gly1065=)
 dbSNP gnomAD v3 gnomAD v4
9g.135786280C>TCA467821194KCNT1c.3261C>T (p.Gly1087=)
c.3102C>T (p.Gly1034=)
c.3009C>T (p.Gly1003=)
c.3018C>T (p.Gly1006=)
c.3162C>T (p.Gly1054=)
c.*2871C>T (n.*2871C>T)
c.3144C>T (p.Gly1048=)
c.3183C>T (p.Gly1061=)
c.3198C>T (p.Gly1066=)
n.3946C>T
c.3204C>T (p.Gly1068=)
c.3126C>T (p.Gly1042=)
c.3096C>T (p.Gly1032=)
c.3396C>T (p.Gly1132=)
c.3405C>T (p.Gly1135=)
c.2751C>T (p.Gly917=)
c.3195C>T (p.Gly1065=)
9g.135786281A>CCA375491605KCNT1c.3262A>C (p.Ser1088Arg)
c.3103A>C (p.Ser1035Arg)
c.3010A>C (p.Ser1004Arg)
c.3019A>C (p.Ser1007Arg)
c.3163A>C (p.Ser1055Arg)
c.*2872A>C (n.*2872A>C)
c.3145A>C (p.Ser1049Arg)
c.3184A>C (p.Ser1062Arg)
c.3199A>C (p.Ser1067Arg)
n.3947A>C
c.3205A>C (p.Ser1069Arg)
c.3127A>C (p.Ser1043Arg)
c.3097A>C (p.Ser1033Arg)
c.3397A>C (p.Ser1133Arg)
c.3406A>C (p.Ser1136Arg)
c.2752A>C (p.Ser918Arg)
c.3196A>C (p.Ser1066Arg)
9g.135786281A>GCA375491606KCNT1c.3262A>G (p.Ser1088Gly)
c.3103A>G (p.Ser1035Gly)
c.3010A>G (p.Ser1004Gly)
c.3019A>G (p.Ser1007Gly)
c.3163A>G (p.Ser1055Gly)
c.*2872A>G (n.*2872A>G)
c.3145A>G (p.Ser1049Gly)
c.3184A>G (p.Ser1062Gly)
c.3199A>G (p.Ser1067Gly)
n.3947A>G
c.3205A>G (p.Ser1069Gly)
c.3127A>G (p.Ser1043Gly)
c.3097A>G (p.Ser1033Gly)
c.3397A>G (p.Ser1133Gly)
c.3406A>G (p.Ser1136Gly)
c.2752A>G (p.Ser918Gly)
c.3196A>G (p.Ser1066Gly)
9g.135786281A>TCA375491607KCNT1c.3262A>T (p.Ser1088Cys)
c.3103A>T (p.Ser1035Cys)
c.3010A>T (p.Ser1004Cys)
c.3019A>T (p.Ser1007Cys)
c.3163A>T (p.Ser1055Cys)
c.*2872A>T (n.*2872A>T)
c.3145A>T (p.Ser1049Cys)
c.3184A>T (p.Ser1062Cys)
c.3199A>T (p.Ser1067Cys)
n.3947A>T
c.3205A>T (p.Ser1069Cys)
c.3127A>T (p.Ser1043Cys)
c.3097A>T (p.Ser1033Cys)
c.3397A>T (p.Ser1133Cys)
c.3406A>T (p.Ser1136Cys)
c.2752A>T (p.Ser918Cys)
c.3196A>T (p.Ser1066Cys)
9g.135786282G>ACA375491608KCNT1c.3263G>A (p.Ser1088Asn)
c.3104G>A (p.Ser1035Asn)
c.3011G>A (p.Ser1004Asn)
c.3020G>A (p.Ser1007Asn)
c.3164G>A (p.Ser1055Asn)
c.*2873G>A (n.*2873G>A)
c.3146G>A (p.Ser1049Asn)
c.3185G>A (p.Ser1062Asn)
c.3200G>A (p.Ser1067Asn)
n.3948G>A
c.3206G>A (p.Ser1069Asn)
c.3128G>A (p.Ser1043Asn)
c.3098G>A (p.Ser1033Asn)
c.3398G>A (p.Ser1133Asn)
c.3407G>A (p.Ser1136Asn)
c.2753G>A (p.Ser918Asn)
c.3197G>A (p.Ser1066Asn)
 gnomAD v4
9g.135786282G>CCA375491609KCNT1c.3263G>C (p.Ser1088Thr)
c.3104G>C (p.Ser1035Thr)
c.3011G>C (p.Ser1004Thr)
c.3020G>C (p.Ser1007Thr)
c.3164G>C (p.Ser1055Thr)
c.*2873G>C (n.*2873G>C)
c.3146G>C (p.Ser1049Thr)
c.3185G>C (p.Ser1062Thr)
c.3200G>C (p.Ser1067Thr)
n.3948G>C
c.3206G>C (p.Ser1069Thr)
c.3128G>C (p.Ser1043Thr)
c.3098G>C (p.Ser1033Thr)
c.3398G>C (p.Ser1133Thr)
c.3407G>C (p.Ser1136Thr)
c.2753G>C (p.Ser918Thr)
c.3197G>C (p.Ser1066Thr)
9g.135786282G>TCA375491610KCNT1c.3263G>T (p.Ser1088Ile)
c.3104G>T (p.Ser1035Ile)
c.3011G>T (p.Ser1004Ile)
c.3020G>T (p.Ser1007Ile)
c.3164G>T (p.Ser1055Ile)
c.*2873G>T (n.*2873G>T)
c.3146G>T (p.Ser1049Ile)
c.3185G>T (p.Ser1062Ile)
c.3200G>T (p.Ser1067Ile)
n.3948G>T
c.3206G>T (p.Ser1069Ile)
c.3128G>T (p.Ser1043Ile)
c.3098G>T (p.Ser1033Ile)
c.3398G>T (p.Ser1133Ile)
c.3407G>T (p.Ser1136Ile)
c.2753G>T (p.Ser918Ile)
c.3197G>T (p.Ser1066Ile)
9g.135786283C>ACA375491611KCNT1c.3264C>A (p.Ser1088Arg)
c.3105C>A (p.Ser1035Arg)
c.3012C>A (p.Ser1004Arg)
c.3021C>A (p.Ser1007Arg)
c.3165C>A (p.Ser1055Arg)
c.*2874C>A (n.*2874C>A)
c.3147C>A (p.Ser1049Arg)
c.3186C>A (p.Ser1062Arg)
c.3201C>A (p.Ser1067Arg)
n.3949C>A
c.3207C>A (p.Ser1069Arg)
c.3129C>A (p.Ser1043Arg)
c.3099C>A (p.Ser1033Arg)
c.3399C>A (p.Ser1133Arg)
c.3408C>A (p.Ser1136Arg)
c.2754C>A (p.Ser918Arg)
c.3198C>A (p.Ser1066Arg)
9g.135786283C=CA1883887678KCNT1c.3264C= (p.Ser1088=)
c.3105C= (p.Ser1035=)
c.3012C= (p.Ser1004=)
c.3021C= (p.Ser1007=)
c.3165C= (p.Ser1055=)
c.*2874C= (n.*2874C=)
c.3147C= (p.Ser1049=)
c.3186C= (p.Ser1062=)
c.3201C= (p.Ser1067=)
n.3949C=
c.3207C= (p.Ser1069=)
c.3129C= (p.Ser1043=)
c.3099C= (p.Ser1033=)
c.3399C= (p.Ser1133=)
c.3408C= (p.Ser1136=)
c.2754C= (p.Ser918=)
c.3198C= (p.Ser1066=)
9g.135786283C>GCA375491612KCNT1c.3264C>G (p.Ser1088Arg)
c.3105C>G (p.Ser1035Arg)
c.3012C>G (p.Ser1004Arg)
c.3021C>G (p.Ser1007Arg)
c.3165C>G (p.Ser1055Arg)
c.*2874C>G (n.*2874C>G)
c.3147C>G (p.Ser1049Arg)
c.3186C>G (p.Ser1062Arg)
c.3201C>G (p.Ser1067Arg)
n.3949C>G
c.3207C>G (p.Ser1069Arg)
c.3129C>G (p.Ser1043Arg)
c.3099C>G (p.Ser1033Arg)
c.3399C>G (p.Ser1133Arg)
c.3408C>G (p.Ser1136Arg)
c.2754C>G (p.Ser918Arg)
c.3198C>G (p.Ser1066Arg)
9g.135786283C>TCA5327762KCNT1c.3264C>T (p.Ser1088=)
c.3105C>T (p.Ser1035=)
c.3012C>T (p.Ser1004=)
c.3021C>T (p.Ser1007=)
c.3165C>T (p.Ser1055=)
c.*2874C>T (n.*2874C>T)
c.3147C>T (p.Ser1049=)
c.3186C>T (p.Ser1062=)
c.3201C>T (p.Ser1067=)
n.3949C>T
c.3207C>T (p.Ser1069=)
c.3129C>T (p.Ser1043=)
c.3099C>T (p.Ser1033=)
c.3399C>T (p.Ser1133=)
c.3408C>T (p.Ser1136=)
c.2754C>T (p.Ser918=)
c.3198C>T (p.Ser1066=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786284T>ACA375491613KCNT1c.3265T>A (p.Ser1089Thr)
c.3106T>A (p.Ser1036Thr)
c.3013T>A (p.Ser1005Thr)
c.3022T>A (p.Ser1008Thr)
c.3166T>A (p.Ser1056Thr)
c.*2875T>A (n.*2875T>A)
c.3148T>A (p.Ser1050Thr)
c.3187T>A (p.Ser1063Thr)
c.3202T>A (p.Ser1068Thr)
n.3950T>A
c.3208T>A (p.Ser1070Thr)
c.3130T>A (p.Ser1044Thr)
c.3100T>A (p.Ser1034Thr)
c.3400T>A (p.Ser1134Thr)
c.3409T>A (p.Ser1137Thr)
c.2755T>A (p.Ser919Thr)
c.3199T>A (p.Ser1067Thr)
9g.135786284T>CCA375491615KCNT1c.3265T>C (p.Ser1089Pro)
c.3106T>C (p.Ser1036Pro)
c.3013T>C (p.Ser1005Pro)
c.3022T>C (p.Ser1008Pro)
c.3166T>C (p.Ser1056Pro)
c.*2875T>C (n.*2875T>C)
c.3148T>C (p.Ser1050Pro)
c.3187T>C (p.Ser1063Pro)
c.3202T>C (p.Ser1068Pro)
n.3950T>C
c.3208T>C (p.Ser1070Pro)
c.3130T>C (p.Ser1044Pro)
c.3100T>C (p.Ser1034Pro)
c.3400T>C (p.Ser1134Pro)
c.3409T>C (p.Ser1137Pro)
c.2755T>C (p.Ser919Pro)
c.3199T>C (p.Ser1067Pro)
9g.135786284T>GCA375491614KCNT1c.3265T>G (p.Ser1089Ala)
c.3106T>G (p.Ser1036Ala)
c.3013T>G (p.Ser1005Ala)
c.3022T>G (p.Ser1008Ala)
c.3166T>G (p.Ser1056Ala)
c.*2875T>G (n.*2875T>G)
c.3148T>G (p.Ser1050Ala)
c.3187T>G (p.Ser1063Ala)
c.3202T>G (p.Ser1068Ala)
n.3950T>G
c.3208T>G (p.Ser1070Ala)
c.3130T>G (p.Ser1044Ala)
c.3100T>G (p.Ser1034Ala)
c.3400T>G (p.Ser1134Ala)
c.3409T>G (p.Ser1137Ala)
c.2755T>G (p.Ser919Ala)
c.3199T>G (p.Ser1067Ala)
9g.135786285C>ACA375491616KCNT1c.3266C>A (p.Ser1089Tyr)
c.3107C>A (p.Ser1036Tyr)
c.3014C>A (p.Ser1005Tyr)
c.3023C>A (p.Ser1008Tyr)
c.3167C>A (p.Ser1056Tyr)
c.*2876C>A (n.*2876C>A)
c.3149C>A (p.Ser1050Tyr)
c.3188C>A (p.Ser1063Tyr)
c.3203C>A (p.Ser1068Tyr)
n.3951C>A
c.3209C>A (p.Ser1070Tyr)
c.3131C>A (p.Ser1044Tyr)
c.3101C>A (p.Ser1034Tyr)
c.3401C>A (p.Ser1134Tyr)
c.3410C>A (p.Ser1137Tyr)
c.2756C>A (p.Ser919Tyr)
c.3200C>A (p.Ser1067Tyr)
9g.135786285C>GCA375491617KCNT1c.3266C>G (p.Ser1089Cys)
c.3107C>G (p.Ser1036Cys)
c.3014C>G (p.Ser1005Cys)
c.3023C>G (p.Ser1008Cys)
c.3167C>G (p.Ser1056Cys)
c.*2876C>G (n.*2876C>G)
c.3149C>G (p.Ser1050Cys)
c.3188C>G (p.Ser1063Cys)
c.3203C>G (p.Ser1068Cys)
n.3951C>G
c.3209C>G (p.Ser1070Cys)
c.3131C>G (p.Ser1044Cys)
c.3101C>G (p.Ser1034Cys)
c.3401C>G (p.Ser1134Cys)
c.3410C>G (p.Ser1137Cys)
c.2756C>G (p.Ser919Cys)
c.3200C>G (p.Ser1067Cys)
9g.135786285C>TCA375491618KCNT1c.3266C>T (p.Ser1089Phe)
c.3107C>T (p.Ser1036Phe)
c.3014C>T (p.Ser1005Phe)
c.3023C>T (p.Ser1008Phe)
c.3167C>T (p.Ser1056Phe)
c.*2876C>T (n.*2876C>T)
c.3149C>T (p.Ser1050Phe)
c.3188C>T (p.Ser1063Phe)
c.3203C>T (p.Ser1068Phe)
n.3951C>T
c.3209C>T (p.Ser1070Phe)
c.3131C>T (p.Ser1044Phe)
c.3101C>T (p.Ser1034Phe)
c.3401C>T (p.Ser1134Phe)
c.3410C>T (p.Ser1137Phe)
c.2756C>T (p.Ser919Phe)
c.3200C>T (p.Ser1067Phe)
9g.135786286C>ACA467821197KCNT1c.3267C>A (p.Ser1089=)
c.3108C>A (p.Ser1036=)
c.3015C>A (p.Ser1005=)
c.3024C>A (p.Ser1008=)
c.3168C>A (p.Ser1056=)
c.*2877C>A (n.*2877C>A)
c.3150C>A (p.Ser1050=)
c.3189C>A (p.Ser1063=)
c.3204C>A (p.Ser1068=)
n.3952C>A
c.3210C>A (p.Ser1070=)
c.3132C>A (p.Ser1044=)
c.3102C>A (p.Ser1034=)
c.3402C>A (p.Ser1134=)
c.3411C>A (p.Ser1137=)
c.2757C>A (p.Ser919=)
c.3201C>A (p.Ser1067=)
9g.135786286C>GCA467821196KCNT1c.3267C>G (p.Ser1089=)
c.3108C>G (p.Ser1036=)
c.3015C>G (p.Ser1005=)
c.3024C>G (p.Ser1008=)
c.3168C>G (p.Ser1056=)
c.*2877C>G (n.*2877C>G)
c.3150C>G (p.Ser1050=)
c.3189C>G (p.Ser1063=)
c.3204C>G (p.Ser1068=)
n.3952C>G
c.3210C>G (p.Ser1070=)
c.3132C>G (p.Ser1044=)
c.3102C>G (p.Ser1034=)
c.3402C>G (p.Ser1134=)
c.3411C>G (p.Ser1137=)
c.2757C>G (p.Ser919=)
c.3201C>G (p.Ser1067=)
9g.135786286C>TCA467821195KCNT1c.3267C>T (p.Ser1089=)
c.3108C>T (p.Ser1036=)
c.3015C>T (p.Ser1005=)
c.3024C>T (p.Ser1008=)
c.3168C>T (p.Ser1056=)
c.*2877C>T (n.*2877C>T)
c.3150C>T (p.Ser1050=)
c.3189C>T (p.Ser1063=)
c.3204C>T (p.Ser1068=)
n.3952C>T
c.3210C>T (p.Ser1070=)
c.3132C>T (p.Ser1044=)
c.3102C>T (p.Ser1034=)
c.3402C>T (p.Ser1134=)
c.3411C>T (p.Ser1137=)
c.2757C>T (p.Ser919=)
c.3201C>T (p.Ser1067=)
9g.135786287C>ACA375491619KCNT1c.3268C>A (p.Gln1090Lys)
c.3109C>A (p.Gln1037Lys)
c.3016C>A (p.Gln1006Lys)
c.3025C>A (p.Gln1009Lys)
c.3169C>A (p.Gln1057Lys)
c.*2878C>A (n.*2878C>A)
c.3151C>A (p.Gln1051Lys)
c.3190C>A (p.Gln1064Lys)
c.3205C>A (p.Gln1069Lys)
n.3953C>A
c.3211C>A (p.Gln1071Lys)
c.3133C>A (p.Gln1045Lys)
c.3103C>A (p.Gln1035Lys)
c.3403C>A (p.Gln1135Lys)
c.3412C>A (p.Gln1138Lys)
c.2758C>A (p.Gln920Lys)
c.3202C>A (p.Gln1068Lys)
9g.135786287C=CA1883887684KCNT1c.3268C= (p.Gln1090=)
c.3109C= (p.Gln1037=)
c.3016C= (p.Gln1006=)
c.3025C= (p.Gln1009=)
c.3169C= (p.Gln1057=)
c.*2878C= (n.*2878C=)
c.3151C= (p.Gln1051=)
c.3190C= (p.Gln1064=)
c.3205C= (p.Gln1069=)
n.3953C=
c.3211C= (p.Gln1071=)
c.3133C= (p.Gln1045=)
c.3103C= (p.Gln1035=)
c.3403C= (p.Gln1135=)
c.3412C= (p.Gln1138=)
c.2758C= (p.Gln920=)
c.3202C= (p.Gln1068=)
9g.135786287C>GCA375491620KCNT1c.3268C>G (p.Gln1090Glu)
c.3109C>G (p.Gln1037Glu)
c.3016C>G (p.Gln1006Glu)
c.3025C>G (p.Gln1009Glu)
c.3169C>G (p.Gln1057Glu)
c.*2878C>G (n.*2878C>G)
c.3151C>G (p.Gln1051Glu)
c.3190C>G (p.Gln1064Glu)
c.3205C>G (p.Gln1069Glu)
n.3953C>G
c.3211C>G (p.Gln1071Glu)
c.3133C>G (p.Gln1045Glu)
c.3103C>G (p.Gln1035Glu)
c.3403C>G (p.Gln1135Glu)
c.3412C>G (p.Gln1138Glu)
c.2758C>G (p.Gln920Glu)
c.3202C>G (p.Gln1068Glu)
9g.135786287C>TCA5327763KCNT1c.3268C>T (p.Gln1090Ter)
c.3109C>T (p.Gln1037Ter)
c.3016C>T (p.Gln1006Ter)
c.3025C>T (p.Gln1009Ter)
c.3169C>T (p.Gln1057Ter)
c.*2878C>T (n.*2878C>T)
c.3151C>T (p.Gln1051Ter)
c.3190C>T (p.Gln1064Ter)
c.3205C>T (p.Gln1069Ter)
n.3953C>T
c.3211C>T (p.Gln1071Ter)
c.3133C>T (p.Gln1045Ter)
c.3103C>T (p.Gln1035Ter)
c.3403C>T (p.Gln1135Ter)
c.3412C>T (p.Gln1138Ter)
c.2758C>T (p.Gln920Ter)
c.3202C>T (p.Gln1068Ter)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135786288A>CCA375491621KCNT1c.3269A>C (p.Gln1090Pro)
c.3110A>C (p.Gln1037Pro)
c.3017A>C (p.Gln1006Pro)
c.3026A>C (p.Gln1009Pro)
c.3170A>C (p.Gln1057Pro)
c.*2879A>C (n.*2879A>C)
c.3152A>C (p.Gln1051Pro)
c.3191A>C (p.Gln1064Pro)
c.3206A>C (p.Gln1069Pro)
n.3954A>C
c.3212A>C (p.Gln1071Pro)
c.3134A>C (p.Gln1045Pro)
c.3104A>C (p.Gln1035Pro)
c.3404A>C (p.Gln1135Pro)
c.3413A>C (p.Gln1138Pro)
c.2759A>C (p.Gln920Pro)
c.3203A>C (p.Gln1068Pro)
9g.135786288A>GCA375491622KCNT1c.3269A>G (p.Gln1090Arg)
c.3110A>G (p.Gln1037Arg)
c.3017A>G (p.Gln1006Arg)
c.3026A>G (p.Gln1009Arg)
c.3170A>G (p.Gln1057Arg)
c.*2879A>G (n.*2879A>G)
c.3152A>G (p.Gln1051Arg)
c.3191A>G (p.Gln1064Arg)
c.3206A>G (p.Gln1069Arg)
n.3954A>G
c.3212A>G (p.Gln1071Arg)
c.3134A>G (p.Gln1045Arg)
c.3104A>G (p.Gln1035Arg)
c.3404A>G (p.Gln1135Arg)
c.3413A>G (p.Gln1138Arg)
c.2759A>G (p.Gln920Arg)
c.3203A>G (p.Gln1068Arg)
9g.135786288A>TCA375491623KCNT1c.3269A>T (p.Gln1090Leu)
c.3110A>T (p.Gln1037Leu)
c.3017A>T (p.Gln1006Leu)
c.3026A>T (p.Gln1009Leu)
c.3170A>T (p.Gln1057Leu)
c.*2879A>T (n.*2879A>T)
c.3152A>T (p.Gln1051Leu)
c.3191A>T (p.Gln1064Leu)
c.3206A>T (p.Gln1069Leu)
n.3954A>T
c.3212A>T (p.Gln1071Leu)
c.3134A>T (p.Gln1045Leu)
c.3104A>T (p.Gln1035Leu)
c.3404A>T (p.Gln1135Leu)
c.3413A>T (p.Gln1138Leu)
c.2759A>T (p.Gln920Leu)
c.3203A>T (p.Gln1068Leu)
9g.135786289G>ACA467821198KCNT1c.3270G>A (p.Gln1090=)
c.3111G>A (p.Gln1037=)
c.3018G>A (p.Gln1006=)
c.3027G>A (p.Gln1009=)
c.3171G>A (p.Gln1057=)
c.*2880G>A (n.*2880G>A)
c.3153G>A (p.Gln1051=)
c.3192G>A (p.Gln1064=)
c.3207G>A (p.Gln1069=)
n.3955G>A
c.3213G>A (p.Gln1071=)
c.3135G>A (p.Gln1045=)
c.3105G>A (p.Gln1035=)
c.3405G>A (p.Gln1135=)
c.3414G>A (p.Gln1138=)
c.2760G>A (p.Gln920=)
c.3204G>A (p.Gln1068=)
 gnomAD v4
9g.135786289G>CCA375491624KCNT1c.3270G>C (p.Gln1090His)
c.3111G>C (p.Gln1037His)
c.3018G>C (p.Gln1006His)
c.3027G>C (p.Gln1009His)
c.3171G>C (p.Gln1057His)
c.*2880G>C (n.*2880G>C)
c.3153G>C (p.Gln1051His)
c.3192G>C (p.Gln1064His)
c.3207G>C (p.Gln1069His)
n.3955G>C
c.3213G>C (p.Gln1071His)
c.3135G>C (p.Gln1045His)
c.3105G>C (p.Gln1035His)
c.3405G>C (p.Gln1135His)
c.3414G>C (p.Gln1138His)
c.2760G>C (p.Gln920His)
c.3204G>C (p.Gln1068His)
9g.135786289G>TCA375491625KCNT1c.3270G>T (p.Gln1090His)
c.3111G>T (p.Gln1037His)
c.3018G>T (p.Gln1006His)
c.3027G>T (p.Gln1009His)
c.3171G>T (p.Gln1057His)
c.*2880G>T (n.*2880G>T)
c.3153G>T (p.Gln1051His)
c.3192G>T (p.Gln1064His)
c.3207G>T (p.Gln1069His)
n.3955G>T
c.3213G>T (p.Gln1071His)
c.3135G>T (p.Gln1045His)
c.3105G>T (p.Gln1035His)
c.3405G>T (p.Gln1135His)
c.3414G>T (p.Gln1138His)
c.2760G>T (p.Gln920His)
c.3204G>T (p.Gln1068His)
9g.135786290G>ACA375491627KCNT1c.3271G>A (p.Gly1091Ser)
c.3112G>A (p.Gly1038Ser)
c.3019G>A (p.Gly1007Ser)
c.3028G>A (p.Gly1010Ser)
c.3172G>A (p.Gly1058Ser)
c.*2881G>A (n.*2881G>A)
c.3154G>A (p.Gly1052Ser)
c.3193G>A (p.Gly1065Ser)
c.3208G>A (p.Gly1070Ser)
n.3956G>A
c.3214G>A (p.Gly1072Ser)
c.3136G>A (p.Gly1046Ser)
c.3106G>A (p.Gly1036Ser)
c.3406G>A (p.Gly1136Ser)
c.3415G>A (p.Gly1139Ser)
c.2761G>A (p.Gly921Ser)
c.3205G>A (p.Gly1069Ser)
9g.135786290G>CCA375491628KCNT1c.3271G>C (p.Gly1091Arg)
c.3112G>C (p.Gly1038Arg)
c.3019G>C (p.Gly1007Arg)
c.3028G>C (p.Gly1010Arg)
c.3172G>C (p.Gly1058Arg)
c.*2881G>C (n.*2881G>C)
c.3154G>C (p.Gly1052Arg)
c.3193G>C (p.Gly1065Arg)
c.3208G>C (p.Gly1070Arg)
n.3956G>C
c.3214G>C (p.Gly1072Arg)
c.3136G>C (p.Gly1046Arg)
c.3106G>C (p.Gly1036Arg)
c.3406G>C (p.Gly1136Arg)
c.3415G>C (p.Gly1139Arg)
c.2761G>C (p.Gly921Arg)
c.3205G>C (p.Gly1069Arg)
9g.135786290G>TCA375491626KCNT1c.3271G>T (p.Gly1091Cys)
c.3112G>T (p.Gly1038Cys)
c.3019G>T (p.Gly1007Cys)
c.3028G>T (p.Gly1010Cys)
c.3172G>T (p.Gly1058Cys)
c.*2881G>T (n.*2881G>T)
c.3154G>T (p.Gly1052Cys)
c.3193G>T (p.Gly1065Cys)
c.3208G>T (p.Gly1070Cys)
n.3956G>T
c.3214G>T (p.Gly1072Cys)
c.3136G>T (p.Gly1046Cys)
c.3106G>T (p.Gly1036Cys)
c.3406G>T (p.Gly1136Cys)
c.3415G>T (p.Gly1139Cys)
c.2761G>T (p.Gly921Cys)
c.3205G>T (p.Gly1069Cys)
 dbSNP
9g.135786291G>ACA375491631KCNT1c.3272G>A (p.Gly1091Asp)
c.3113G>A (p.Gly1038Asp)
c.3020G>A (p.Gly1007Asp)
c.3029G>A (p.Gly1010Asp)
c.3173G>A (p.Gly1058Asp)
c.*2882G>A (n.*2882G>A)
c.3155G>A (p.Gly1052Asp)
c.3194G>A (p.Gly1065Asp)
c.3209G>A (p.Gly1070Asp)
n.3957G>A
c.3215G>A (p.Gly1072Asp)
c.3137G>A (p.Gly1046Asp)
c.3107G>A (p.Gly1036Asp)
c.3407G>A (p.Gly1136Asp)
c.3416G>A (p.Gly1139Asp)
c.2762G>A (p.Gly921Asp)
c.3206G>A (p.Gly1069Asp)
9g.135786291G>CCA375491629KCNT1c.3272G>C (p.Gly1091Ala)
c.3113G>C (p.Gly1038Ala)
c.3020G>C (p.Gly1007Ala)
c.3029G>C (p.Gly1010Ala)
c.3173G>C (p.Gly1058Ala)
c.*2882G>C (n.*2882G>C)
c.3155G>C (p.Gly1052Ala)
c.3194G>C (p.Gly1065Ala)
c.3209G>C (p.Gly1070Ala)
n.3957G>C
c.3215G>C (p.Gly1072Ala)
c.3137G>C (p.Gly1046Ala)
c.3107G>C (p.Gly1036Ala)
c.3407G>C (p.Gly1136Ala)
c.3416G>C (p.Gly1139Ala)
c.2762G>C (p.Gly921Ala)
c.3206G>C (p.Gly1069Ala)
9g.135786291G>TCA375491630KCNT1c.3272G>T (p.Gly1091Val)
c.3113G>T (p.Gly1038Val)
c.3020G>T (p.Gly1007Val)
c.3029G>T (p.Gly1010Val)
c.3173G>T (p.Gly1058Val)
c.*2882G>T (n.*2882G>T)
c.3155G>T (p.Gly1052Val)
c.3194G>T (p.Gly1065Val)
c.3209G>T (p.Gly1070Val)
n.3957G>T
c.3215G>T (p.Gly1072Val)
c.3137G>T (p.Gly1046Val)
c.3107G>T (p.Gly1036Val)
c.3407G>T (p.Gly1136Val)
c.3416G>T (p.Gly1139Val)
c.2762G>T (p.Gly921Val)
c.3206G>T (p.Gly1069Val)
 gnomAD v4
9g.135786292C>ACA467821199KCNT1c.3273C>A (p.Gly1091=)
c.3114C>A (p.Gly1038=)
c.3021C>A (p.Gly1007=)
c.3030C>A (p.Gly1010=)
c.3174C>A (p.Gly1058=)
c.*2883C>A (n.*2883C>A)
c.3156C>A (p.Gly1052=)
c.3195C>A (p.Gly1065=)
c.3210C>A (p.Gly1070=)
n.3958C>A
c.3216C>A (p.Gly1072=)
c.3138C>A (p.Gly1046=)
c.3108C>A (p.Gly1036=)
c.3408C>A (p.Gly1136=)
c.3417C>A (p.Gly1139=)
c.2763C>A (p.Gly921=)
c.3207C>A (p.Gly1069=)
9g.135786292C=CA1883887686KCNT1c.3273C= (p.Gly1091=)
c.3114C= (p.Gly1038=)
c.3021C= (p.Gly1007=)
c.3030C= (p.Gly1010=)
c.3174C= (p.Gly1058=)
c.*2883C= (n.*2883C=)
c.3156C= (p.Gly1052=)
c.3195C= (p.Gly1065=)
c.3210C= (p.Gly1070=)
n.3958C=
c.3216C= (p.Gly1072=)
c.3138C= (p.Gly1046=)
c.3108C= (p.Gly1036=)
c.3408C= (p.Gly1136=)
c.3417C= (p.Gly1139=)
c.2763C= (p.Gly921=)
c.3207C= (p.Gly1069=)
9g.135786292C>GCA467821200KCNT1c.3273C>G (p.Gly1091=)
c.3114C>G (p.Gly1038=)
c.3021C>G (p.Gly1007=)
c.3030C>G (p.Gly1010=)
c.3174C>G (p.Gly1058=)
c.*2883C>G (n.*2883C>G)
c.3156C>G (p.Gly1052=)
c.3195C>G (p.Gly1065=)
c.3210C>G (p.Gly1070=)
n.3958C>G
c.3216C>G (p.Gly1072=)
c.3138C>G (p.Gly1046=)
c.3108C>G (p.Gly1036=)
c.3408C>G (p.Gly1136=)
c.3417C>G (p.Gly1139=)
c.2763C>G (p.Gly921=)
c.3207C>G (p.Gly1069=)
9g.135786292C>TCA5327764KCNT1c.3273C>T (p.Gly1091=)
c.3114C>T (p.Gly1038=)
c.3021C>T (p.Gly1007=)
c.3030C>T (p.Gly1010=)
c.3174C>T (p.Gly1058=)
c.*2883C>T (n.*2883C>T)
c.3156C>T (p.Gly1052=)
c.3195C>T (p.Gly1065=)
c.3210C>T (p.Gly1070=)
n.3958C>T
c.3216C>T (p.Gly1072=)
c.3138C>T (p.Gly1046=)
c.3108C>T (p.Gly1036=)
c.3408C>T (p.Gly1136=)
c.3417C>T (p.Gly1139=)
c.2763C>T (p.Gly921=)
c.3207C>T (p.Gly1069=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135786293C>ACA375491632KCNT1c.3274C>A (p.Arg1092Ser)
c.3115C>A (p.Arg1039Ser)
c.3022C>A (p.Arg1008Ser)
c.3031C>A (p.Arg1011Ser)
c.3175C>A (p.Arg1059Ser)
c.*2884C>A (n.*2884C>A)
c.3157C>A (p.Arg1053Ser)
c.3196C>A (p.Arg1066Ser)
c.3211C>A (p.Arg1071Ser)
n.3959C>A
c.3217C>A (p.Arg1073Ser)
c.3139C>A (p.Arg1047Ser)
c.3109C>A (p.Arg1037Ser)
c.3409C>A (p.Arg1137Ser)
c.3418C>A (p.Arg1140Ser)
c.2764C>A (p.Arg922Ser)
c.3208C>A (p.Arg1070Ser)
9g.135786293C=CA1883887692KCNT1c.3274C= (p.Arg1092=)
c.3115C= (p.Arg1039=)
c.3022C= (p.Arg1008=)
c.3031C= (p.Arg1011=)
c.3175C= (p.Arg1059=)
c.*2884C= (n.*2884C=)
c.3157C= (p.Arg1053=)
c.3196C= (p.Arg1066=)
c.3211C= (p.Arg1071=)
n.3959C=
c.3217C= (p.Arg1073=)
c.3139C= (p.Arg1047=)
c.3109C= (p.Arg1037=)
c.3409C= (p.Arg1137=)
c.3418C= (p.Arg1140=)
c.2764C= (p.Arg922=)
c.3208C= (p.Arg1070=)
9g.135786293C>GCA375491633KCNT1c.3274C>G (p.Arg1092Gly)
c.3115C>G (p.Arg1039Gly)
c.3022C>G (p.Arg1008Gly)
c.3031C>G (p.Arg1011Gly)
c.3175C>G (p.Arg1059Gly)
c.*2884C>G (n.*2884C>G)
c.3157C>G (p.Arg1053Gly)
c.3196C>G (p.Arg1066Gly)
c.3211C>G (p.Arg1071Gly)
n.3959C>G
c.3217C>G (p.Arg1073Gly)
c.3139C>G (p.Arg1047Gly)
c.3109C>G (p.Arg1037Gly)
c.3409C>G (p.Arg1137Gly)
c.3418C>G (p.Arg1140Gly)
c.2764C>G (p.Arg922Gly)
c.3208C>G (p.Arg1070Gly)
9g.135786293C>TCA16612553KCNT1c.3274C>T (p.Arg1092Cys)
c.3115C>T (p.Arg1039Cys)
c.3022C>T (p.Arg1008Cys)
c.3031C>T (p.Arg1011Cys)
c.3175C>T (p.Arg1059Cys)
c.*2884C>T (n.*2884C>T)
c.3157C>T (p.Arg1053Cys)
c.3196C>T (p.Arg1066Cys)
c.3211C>T (p.Arg1071Cys)
n.3959C>T
c.3217C>T (p.Arg1073Cys)
c.3139C>T (p.Arg1047Cys)
c.3109C>T (p.Arg1037Cys)
c.3409C>T (p.Arg1137Cys)
c.3418C>T (p.Arg1140Cys)
c.2764C>T (p.Arg922Cys)
c.3208C>T (p.Arg1070Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135786294G>ACA5327765KCNT1c.3275G>A (p.Arg1092His)
c.3116G>A (p.Arg1039His)
c.3023G>A (p.Arg1008His)
c.3032G>A (p.Arg1011His)
c.3176G>A (p.Arg1059His)
c.*2885G>A (n.*2885G>A)
c.3158G>A (p.Arg1053His)
c.3197G>A (p.Arg1066His)
c.3212G>A (p.Arg1071His)
n.3960G>A
c.3218G>A (p.Arg1073His)
c.3140G>A (p.Arg1047His)
c.3110G>A (p.Arg1037His)
c.3410G>A (p.Arg1137His)
c.3419G>A (p.Arg1140His)
c.2765G>A (p.Arg922His)
c.3209G>A (p.Arg1070His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786294G>CCA375491634KCNT1c.3275G>C (p.Arg1092Pro)
c.3116G>C (p.Arg1039Pro)
c.3023G>C (p.Arg1008Pro)
c.3032G>C (p.Arg1011Pro)
c.3176G>C (p.Arg1059Pro)
c.*2885G>C (n.*2885G>C)
c.3158G>C (p.Arg1053Pro)
c.3197G>C (p.Arg1066Pro)
c.3212G>C (p.Arg1071Pro)
n.3960G>C
c.3218G>C (p.Arg1073Pro)
c.3140G>C (p.Arg1047Pro)
c.3110G>C (p.Arg1037Pro)
c.3410G>C (p.Arg1137Pro)
c.3419G>C (p.Arg1140Pro)
c.2765G>C (p.Arg922Pro)
c.3209G>C (p.Arg1070Pro)
9g.135786294G=CA1883887697KCNT1c.3275G= (p.Arg1092=)
c.3116G= (p.Arg1039=)
c.3023G= (p.Arg1008=)
c.3032G= (p.Arg1011=)
c.3176G= (p.Arg1059=)
c.*2885G= (n.*2885G=)
c.3158G= (p.Arg1053=)
c.3197G= (p.Arg1066=)
c.3212G= (p.Arg1071=)
n.3960G=
c.3218G= (p.Arg1073=)
c.3140G= (p.Arg1047=)
c.3110G= (p.Arg1037=)
c.3410G= (p.Arg1137=)
c.3419G= (p.Arg1140=)
c.2765G= (p.Arg922=)
c.3209G= (p.Arg1070=)
9g.135786294G>TCA375491635KCNT1c.3275G>T (p.Arg1092Leu)
c.3116G>T (p.Arg1039Leu)
c.3023G>T (p.Arg1008Leu)
c.3032G>T (p.Arg1011Leu)
c.3176G>T (p.Arg1059Leu)
c.*2885G>T (n.*2885G>T)
c.3158G>T (p.Arg1053Leu)
c.3197G>T (p.Arg1066Leu)
c.3212G>T (p.Arg1071Leu)
n.3960G>T
c.3218G>T (p.Arg1073Leu)
c.3140G>T (p.Arg1047Leu)
c.3110G>T (p.Arg1037Leu)
c.3410G>T (p.Arg1137Leu)
c.3419G>T (p.Arg1140Leu)
c.2765G>T (p.Arg922Leu)
c.3209G>T (p.Arg1070Leu)
 gnomAD v4
9g.135786295C>ACA467821201KCNT1c.3276C>A (p.Arg1092=)
c.3117C>A (p.Arg1039=)
c.3024C>A (p.Arg1008=)
c.3033C>A (p.Arg1011=)
c.3177C>A (p.Arg1059=)
c.*2886C>A (n.*2886C>A)
c.3159C>A (p.Arg1053=)
c.3198C>A (p.Arg1066=)
c.3213C>A (p.Arg1071=)
n.3961C>A
c.3219C>A (p.Arg1073=)
c.3141C>A (p.Arg1047=)
c.3111C>A (p.Arg1037=)
c.3411C>A (p.Arg1137=)
c.3420C>A (p.Arg1140=)
c.2766C>A (p.Arg922=)
c.3210C>A (p.Arg1070=)
 gnomAD v4
9g.135786295C>GCA467821202KCNT1c.3276C>G (p.Arg1092=)
c.3117C>G (p.Arg1039=)
c.3024C>G (p.Arg1008=)
c.3033C>G (p.Arg1011=)
c.3177C>G (p.Arg1059=)
c.*2886C>G (n.*2886C>G)
c.3159C>G (p.Arg1053=)
c.3198C>G (p.Arg1066=)
c.3213C>G (p.Arg1071=)
n.3961C>G
c.3219C>G (p.Arg1073=)
c.3141C>G (p.Arg1047=)
c.3111C>G (p.Arg1037=)
c.3411C>G (p.Arg1137=)
c.3420C>G (p.Arg1140=)
c.2766C>G (p.Arg922=)
c.3210C>G (p.Arg1070=)
9g.135786295C>TCA467821203KCNT1c.3276C>T (p.Arg1092=)
c.3117C>T (p.Arg1039=)
c.3024C>T (p.Arg1008=)
c.3033C>T (p.Arg1011=)
c.3177C>T (p.Arg1059=)
c.*2886C>T (n.*2886C>T)
c.3159C>T (p.Arg1053=)
c.3198C>T (p.Arg1066=)
c.3213C>T (p.Arg1071=)
n.3961C>T
c.3219C>T (p.Arg1073=)
c.3141C>T (p.Arg1047=)
c.3111C>T (p.Arg1037=)
c.3411C>T (p.Arg1137=)
c.3420C>T (p.Arg1140=)
c.2766C>T (p.Arg922=)
c.3210C>T (p.Arg1070=)
9g.135786296C>ACA375491636KCNT1c.3277C>A (p.His1093Asn)
c.3118C>A (p.His1040Asn)
c.3025C>A (p.His1009Asn)
c.3034C>A (p.His1012Asn)
c.3178C>A (p.His1060Asn)
c.*2887C>A (n.*2887C>A)
c.3160C>A (p.His1054Asn)
c.3199C>A (p.His1067Asn)
c.3214C>A (p.His1072Asn)
n.3962C>A
c.3220C>A (p.His1074Asn)
c.3142C>A (p.His1048Asn)
c.3112C>A (p.His1038Asn)
c.3412C>A (p.His1138Asn)
c.3421C>A (p.His1141Asn)
c.2767C>A (p.His923Asn)
c.3211C>A (p.His1071Asn)
9g.135786296C>GCA375491637KCNT1c.3277C>G (p.His1093Asp)
c.3118C>G (p.His1040Asp)
c.3025C>G (p.His1009Asp)
c.3034C>G (p.His1012Asp)
c.3178C>G (p.His1060Asp)
c.*2887C>G (n.*2887C>G)
c.3160C>G (p.His1054Asp)
c.3199C>G (p.His1067Asp)
c.3214C>G (p.His1072Asp)
n.3962C>G
c.3220C>G (p.His1074Asp)
c.3142C>G (p.His1048Asp)
c.3112C>G (p.His1038Asp)
c.3412C>G (p.His1138Asp)
c.3421C>G (p.His1141Asp)
c.2767C>G (p.His923Asp)
c.3211C>G (p.His1071Asp)
9g.135786296C>TCA375491638KCNT1c.3277C>T (p.His1093Tyr)
c.3118C>T (p.His1040Tyr)
c.3025C>T (p.His1009Tyr)
c.3034C>T (p.His1012Tyr)
c.3178C>T (p.His1060Tyr)
c.*2887C>T (n.*2887C>T)
c.3160C>T (p.His1054Tyr)
c.3199C>T (p.His1067Tyr)
c.3214C>T (p.His1072Tyr)
n.3962C>T
c.3220C>T (p.His1074Tyr)
c.3142C>T (p.His1048Tyr)
c.3112C>T (p.His1038Tyr)
c.3412C>T (p.His1138Tyr)
c.3421C>T (p.His1141Tyr)
c.2767C>T (p.His923Tyr)
c.3211C>T (p.His1071Tyr)
9g.135786297A>CCA375491641KCNT1c.3278A>C (p.His1093Pro)
c.3119A>C (p.His1040Pro)
c.3026A>C (p.His1009Pro)
c.3035A>C (p.His1012Pro)
c.3179A>C (p.His1060Pro)
c.*2888A>C (n.*2888A>C)
c.3161A>C (p.His1054Pro)
c.3200A>C (p.His1067Pro)
c.3215A>C (p.His1072Pro)
n.3963A>C
c.3221A>C (p.His1074Pro)
c.3143A>C (p.His1048Pro)
c.3113A>C (p.His1038Pro)
c.3413A>C (p.His1138Pro)
c.3422A>C (p.His1141Pro)
c.2768A>C (p.His923Pro)
c.3212A>C (p.His1071Pro)
9g.135786297A>GCA375491640KCNT1c.3278A>G (p.His1093Arg)
c.3119A>G (p.His1040Arg)
c.3026A>G (p.His1009Arg)
c.3035A>G (p.His1012Arg)
c.3179A>G (p.His1060Arg)
c.*2888A>G (n.*2888A>G)
c.3161A>G (p.His1054Arg)
c.3200A>G (p.His1067Arg)
c.3215A>G (p.His1072Arg)
n.3963A>G
c.3221A>G (p.His1074Arg)
c.3143A>G (p.His1048Arg)
c.3113A>G (p.His1038Arg)
c.3413A>G (p.His1138Arg)
c.3422A>G (p.His1141Arg)
c.2768A>G (p.His923Arg)
c.3212A>G (p.His1071Arg)
 gnomAD v4
9g.135786297A>TCA375491639KCNT1c.3278A>T (p.His1093Leu)
c.3119A>T (p.His1040Leu)
c.3026A>T (p.His1009Leu)
c.3035A>T (p.His1012Leu)
c.3179A>T (p.His1060Leu)
c.*2888A>T (n.*2888A>T)
c.3161A>T (p.His1054Leu)
c.3200A>T (p.His1067Leu)
c.3215A>T (p.His1072Leu)
n.3963A>T
c.3221A>T (p.His1074Leu)
c.3143A>T (p.His1048Leu)
c.3113A>T (p.His1038Leu)
c.3413A>T (p.His1138Leu)
c.3422A>T (p.His1141Leu)
c.2768A>T (p.His923Leu)
c.3212A>T (p.His1071Leu)
9g.135786298C>ACA375491642KCNT1c.3279C>A (p.His1093Gln)
c.3120C>A (p.His1040Gln)
c.3027C>A (p.His1009Gln)
c.3036C>A (p.His1012Gln)
c.3180C>A (p.His1060Gln)
c.*2889C>A (n.*2889C>A)
c.3162C>A (p.His1054Gln)
c.3201C>A (p.His1067Gln)
c.3216C>A (p.His1072Gln)
n.3964C>A
c.3222C>A (p.His1074Gln)
c.3144C>A (p.His1048Gln)
c.3114C>A (p.His1038Gln)
c.3414C>A (p.His1138Gln)
c.3423C>A (p.His1141Gln)
c.2769C>A (p.His923Gln)
c.3213C>A (p.His1071Gln)
 dbSNP
9g.135786298C=CA1883887707KCNT1c.3279C= (p.His1093=)
c.3120C= (p.His1040=)
c.3027C= (p.His1009=)
c.3036C= (p.His1012=)
c.3180C= (p.His1060=)
c.*2889C= (n.*2889C=)
c.3162C= (p.His1054=)
c.3201C= (p.His1067=)
c.3216C= (p.His1072=)
n.3964C=
c.3222C= (p.His1074=)
c.3144C= (p.His1048=)
c.3114C= (p.His1038=)
c.3414C= (p.His1138=)
c.3423C= (p.His1141=)
c.2769C= (p.His923=)
c.3213C= (p.His1071=)
9g.135786298C>GCA375491643KCNT1c.3279C>G (p.His1093Gln)
c.3120C>G (p.His1040Gln)
c.3027C>G (p.His1009Gln)
c.3036C>G (p.His1012Gln)
c.3180C>G (p.His1060Gln)
c.*2889C>G (n.*2889C>G)
c.3162C>G (p.His1054Gln)
c.3201C>G (p.His1067Gln)
c.3216C>G (p.His1072Gln)
n.3964C>G
c.3222C>G (p.His1074Gln)
c.3144C>G (p.His1048Gln)
c.3114C>G (p.His1038Gln)
c.3414C>G (p.His1138Gln)
c.3423C>G (p.His1141Gln)
c.2769C>G (p.His923Gln)
c.3213C>G (p.His1071Gln)
9g.135786298C>TCA467821204KCNT1c.3279C>T (p.His1093=)
c.3120C>T (p.His1040=)
c.3027C>T (p.His1009=)
c.3036C>T (p.His1012=)
c.3180C>T (p.His1060=)
c.*2889C>T (n.*2889C>T)
c.3162C>T (p.His1054=)
c.3201C>T (p.His1067=)
c.3216C>T (p.His1072=)
n.3964C>T
c.3222C>T (p.His1074=)
c.3144C>T (p.His1048=)
c.3114C>T (p.His1038=)
c.3414C>T (p.His1138=)
c.3423C>T (p.His1141=)
c.2769C>T (p.His923=)
c.3213C>T (p.His1071=)
 ClinVar gnomAD v4
9g.135786299A>CCA375491644KCNT1c.3280A>C (p.Thr1094Pro)
c.3121A>C (p.Thr1041Pro)
c.3028A>C (p.Thr1010Pro)
c.3037A>C (p.Thr1013Pro)
c.3181A>C (p.Thr1061Pro)
c.*2890A>C (n.*2890A>C)
c.3163A>C (p.Thr1055Pro)
c.3202A>C (p.Thr1068Pro)
c.3217A>C (p.Thr1073Pro)
n.3965A>C
c.3223A>C (p.Thr1075Pro)
c.3145A>C (p.Thr1049Pro)
c.3115A>C (p.Thr1039Pro)
c.3415A>C (p.Thr1139Pro)
c.3424A>C (p.Thr1142Pro)
c.2770A>C (p.Thr924Pro)
c.3214A>C (p.Thr1072Pro)
9g.135786299A>GCA375491645KCNT1c.3280A>G (p.Thr1094Ala)
c.3121A>G (p.Thr1041Ala)
c.3028A>G (p.Thr1010Ala)
c.3037A>G (p.Thr1013Ala)
c.3181A>G (p.Thr1061Ala)
c.*2890A>G (n.*2890A>G)
c.3163A>G (p.Thr1055Ala)
c.3202A>G (p.Thr1068Ala)
c.3217A>G (p.Thr1073Ala)
n.3965A>G
c.3223A>G (p.Thr1075Ala)
c.3145A>G (p.Thr1049Ala)
c.3115A>G (p.Thr1039Ala)
c.3415A>G (p.Thr1139Ala)
c.3424A>G (p.Thr1142Ala)
c.2770A>G (p.Thr924Ala)
c.3214A>G (p.Thr1072Ala)
 gnomAD v4
9g.135786299A>TCA375491646KCNT1c.3280A>T (p.Thr1094Ser)
c.3121A>T (p.Thr1041Ser)
c.3028A>T (p.Thr1010Ser)
c.3037A>T (p.Thr1013Ser)
c.3181A>T (p.Thr1061Ser)
c.*2890A>T (n.*2890A>T)
c.3163A>T (p.Thr1055Ser)
c.3202A>T (p.Thr1068Ser)
c.3217A>T (p.Thr1073Ser)
n.3965A>T
c.3223A>T (p.Thr1075Ser)
c.3145A>T (p.Thr1049Ser)
c.3115A>T (p.Thr1039Ser)
c.3415A>T (p.Thr1139Ser)
c.3424A>T (p.Thr1142Ser)
c.2770A>T (p.Thr924Ser)
c.3214A>T (p.Thr1072Ser)
9g.135786300C>ACA375491647KCNT1c.3281C>A (p.Thr1094Lys)
c.3122C>A (p.Thr1041Lys)
c.3029C>A (p.Thr1010Lys)
c.3038C>A (p.Thr1013Lys)
c.3182C>A (p.Thr1061Lys)
c.*2891C>A (n.*2891C>A)
c.3164C>A (p.Thr1055Lys)
c.3203C>A (p.Thr1068Lys)
c.3218C>A (p.Thr1073Lys)
n.3966C>A
c.3224C>A (p.Thr1075Lys)
c.3146C>A (p.Thr1049Lys)
c.3116C>A (p.Thr1039Lys)
c.3416C>A (p.Thr1139Lys)
c.3425C>A (p.Thr1142Lys)
c.2771C>A (p.Thr924Lys)
c.3215C>A (p.Thr1072Lys)
 gnomAD v4
9g.135786300C=CA1883887718KCNT1c.3281C= (p.Thr1094=)
c.3122C= (p.Thr1041=)
c.3029C= (p.Thr1010=)
c.3038C= (p.Thr1013=)
c.3182C= (p.Thr1061=)
c.*2891C= (n.*2891C=)
c.3164C= (p.Thr1055=)
c.3203C= (p.Thr1068=)
c.3218C= (p.Thr1073=)
n.3966C=
c.3224C= (p.Thr1075=)
c.3146C= (p.Thr1049=)
c.3116C= (p.Thr1039=)
c.3416C= (p.Thr1139=)
c.3425C= (p.Thr1142=)
c.2771C= (p.Thr924=)
c.3215C= (p.Thr1072=)
9g.135786300C>GCA375491648KCNT1c.3281C>G (p.Thr1094Arg)
c.3122C>G (p.Thr1041Arg)
c.3029C>G (p.Thr1010Arg)
c.3038C>G (p.Thr1013Arg)
c.3182C>G (p.Thr1061Arg)
c.*2891C>G (n.*2891C>G)
c.3164C>G (p.Thr1055Arg)
c.3203C>G (p.Thr1068Arg)
c.3218C>G (p.Thr1073Arg)
n.3966C>G
c.3224C>G (p.Thr1075Arg)
c.3146C>G (p.Thr1049Arg)
c.3116C>G (p.Thr1039Arg)
c.3416C>G (p.Thr1139Arg)
c.3425C>G (p.Thr1142Arg)
c.2771C>G (p.Thr924Arg)
c.3215C>G (p.Thr1072Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.135786300C>TCA5327766KCNT1c.3281C>T (p.Thr1094Met)
c.3122C>T (p.Thr1041Met)
c.3029C>T (p.Thr1010Met)
c.3038C>T (p.Thr1013Met)
c.3182C>T (p.Thr1061Met)
c.*2891C>T (n.*2891C>T)
c.3164C>T (p.Thr1055Met)
c.3203C>T (p.Thr1068Met)
c.3218C>T (p.Thr1073Met)
n.3966C>T
c.3224C>T (p.Thr1075Met)
c.3146C>T (p.Thr1049Met)
c.3116C>T (p.Thr1039Met)
c.3416C>T (p.Thr1139Met)
c.3425C>T (p.Thr1142Met)
c.2771C>T (p.Thr924Met)
c.3215C>T (p.Thr1072Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786301G>ACA5327767KCNT1c.3282G>A (p.Thr1094=)
c.3123G>A (p.Thr1041=)
c.3030G>A (p.Thr1010=)
c.3039G>A (p.Thr1013=)
c.3183G>A (p.Thr1061=)
c.*2892G>A (n.*2892G>A)
c.3165G>A (p.Thr1055=)
c.3204G>A (p.Thr1068=)
c.3219G>A (p.Thr1073=)
n.3967G>A
c.3225G>A (p.Thr1075=)
c.3147G>A (p.Thr1049=)
c.3117G>A (p.Thr1039=)
c.3417G>A (p.Thr1139=)
c.3426G>A (p.Thr1142=)
c.2772G>A (p.Thr924=)
c.3216G>A (p.Thr1072=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786301G>CCA467821205KCNT1c.3282G>C (p.Thr1094=)
c.3123G>C (p.Thr1041=)
c.3030G>C (p.Thr1010=)
c.3039G>C (p.Thr1013=)
c.3183G>C (p.Thr1061=)
c.*2892G>C (n.*2892G>C)
c.3165G>C (p.Thr1055=)
c.3204G>C (p.Thr1068=)
c.3219G>C (p.Thr1073=)
n.3967G>C
c.3225G>C (p.Thr1075=)
c.3147G>C (p.Thr1049=)
c.3117G>C (p.Thr1039=)
c.3417G>C (p.Thr1139=)
c.3426G>C (p.Thr1142=)
c.2772G>C (p.Thr924=)
c.3216G>C (p.Thr1072=)
9g.135786301G=CA1883887729KCNT1c.3282G= (p.Thr1094=)
c.3123G= (p.Thr1041=)
c.3030G= (p.Thr1010=)
c.3039G= (p.Thr1013=)
c.3183G= (p.Thr1061=)
c.*2892G= (n.*2892G=)
c.3165G= (p.Thr1055=)
c.3204G= (p.Thr1068=)
c.3219G= (p.Thr1073=)
n.3967G=
c.3225G= (p.Thr1075=)
c.3147G= (p.Thr1049=)
c.3117G= (p.Thr1039=)
c.3417G= (p.Thr1139=)
c.3426G= (p.Thr1142=)
c.2772G= (p.Thr924=)
c.3216G= (p.Thr1072=)
9g.135786301G>TCA467821206KCNT1c.3282G>T (p.Thr1094=)
c.3123G>T (p.Thr1041=)
c.3030G>T (p.Thr1010=)
c.3039G>T (p.Thr1013=)
c.3183G>T (p.Thr1061=)
c.*2892G>T (n.*2892G>T)
c.3165G>T (p.Thr1055=)
c.3204G>T (p.Thr1068=)
c.3219G>T (p.Thr1073=)
n.3967G>T
c.3225G>T (p.Thr1075=)
c.3147G>T (p.Thr1049=)
c.3117G>T (p.Thr1039=)
c.3417G>T (p.Thr1139=)
c.3426G>T (p.Thr1142=)
c.2772G>T (p.Thr924=)
c.3216G>T (p.Thr1072=)
 gnomAD v4
9g.135786302G>ACA375491649KCNT1c.3283G>A (p.Gly1095Ser)
c.3124G>A (p.Gly1042Ser)
c.3031G>A (p.Gly1011Ser)
c.3040G>A (p.Gly1014Ser)
c.3184G>A (p.Gly1062Ser)
c.*2893G>A (n.*2893G>A)
c.3166G>A (p.Gly1056Ser)
c.3205G>A (p.Gly1069Ser)
c.3220G>A (p.Gly1074Ser)
n.3968G>A
c.3226G>A (p.Gly1076Ser)
c.3148G>A (p.Gly1050Ser)
c.3118G>A (p.Gly1040Ser)
c.3418G>A (p.Gly1140Ser)
c.3427G>A (p.Gly1143Ser)
c.2773G>A (p.Gly925Ser)
c.3217G>A (p.Gly1073Ser)
9g.135786302G>CCA375491650KCNT1c.3283G>C (p.Gly1095Arg)
c.3124G>C (p.Gly1042Arg)
c.3031G>C (p.Gly1011Arg)
c.3040G>C (p.Gly1014Arg)
c.3184G>C (p.Gly1062Arg)
c.*2893G>C (n.*2893G>C)
c.3166G>C (p.Gly1056Arg)
c.3205G>C (p.Gly1069Arg)
c.3220G>C (p.Gly1074Arg)
n.3968G>C
c.3226G>C (p.Gly1076Arg)
c.3148G>C (p.Gly1050Arg)
c.3118G>C (p.Gly1040Arg)
c.3418G>C (p.Gly1140Arg)
c.3427G>C (p.Gly1143Arg)
c.2773G>C (p.Gly925Arg)
c.3217G>C (p.Gly1073Arg)
9g.135786302G>TCA375491651KCNT1c.3283G>T (p.Gly1095Cys)
c.3124G>T (p.Gly1042Cys)
c.3031G>T (p.Gly1011Cys)
c.3040G>T (p.Gly1014Cys)
c.3184G>T (p.Gly1062Cys)
c.*2893G>T (n.*2893G>T)
c.3166G>T (p.Gly1056Cys)
c.3205G>T (p.Gly1069Cys)
c.3220G>T (p.Gly1074Cys)
n.3968G>T
c.3226G>T (p.Gly1076Cys)
c.3148G>T (p.Gly1050Cys)
c.3118G>T (p.Gly1040Cys)
c.3418G>T (p.Gly1140Cys)
c.3427G>T (p.Gly1143Cys)
c.2773G>T (p.Gly925Cys)
c.3217G>T (p.Gly1073Cys)
 gnomAD v4
9g.135786303G>ACA375491654KCNT1c.3284G>A (p.Gly1095Asp)
c.3125G>A (p.Gly1042Asp)
c.3032G>A (p.Gly1011Asp)
c.3041G>A (p.Gly1014Asp)
c.3185G>A (p.Gly1062Asp)
c.*2894G>A (n.*2894G>A)
c.3167G>A (p.Gly1056Asp)
c.3206G>A (p.Gly1069Asp)
c.3221G>A (p.Gly1074Asp)
n.3969G>A
c.3227G>A (p.Gly1076Asp)
c.3149G>A (p.Gly1050Asp)
c.3119G>A (p.Gly1040Asp)
c.3419G>A (p.Gly1140Asp)
c.3428G>A (p.Gly1143Asp)
c.2774G>A (p.Gly925Asp)
c.3218G>A (p.Gly1073Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135786303G>CCA375491653KCNT1c.3284G>C (p.Gly1095Ala)
c.3125G>C (p.Gly1042Ala)
c.3032G>C (p.Gly1011Ala)
c.3041G>C (p.Gly1014Ala)
c.3185G>C (p.Gly1062Ala)
c.*2894G>C (n.*2894G>C)
c.3167G>C (p.Gly1056Ala)
c.3206G>C (p.Gly1069Ala)
c.3221G>C (p.Gly1074Ala)
n.3969G>C
c.3227G>C (p.Gly1076Ala)
c.3149G>C (p.Gly1050Ala)
c.3119G>C (p.Gly1040Ala)
c.3419G>C (p.Gly1140Ala)
c.3428G>C (p.Gly1143Ala)
c.2774G>C (p.Gly925Ala)
c.3218G>C (p.Gly1073Ala)
9g.135786303G=CA1883887734KCNT1c.3284G= (p.Gly1095=)
c.3125G= (p.Gly1042=)
c.3032G= (p.Gly1011=)
c.3041G= (p.Gly1014=)
c.3185G= (p.Gly1062=)
c.*2894G= (n.*2894G=)
c.3167G= (p.Gly1056=)
c.3206G= (p.Gly1069=)
c.3221G= (p.Gly1074=)
n.3969G=
c.3227G= (p.Gly1076=)
c.3149G= (p.Gly1050=)
c.3119G= (p.Gly1040=)
c.3419G= (p.Gly1140=)
c.3428G= (p.Gly1143=)
c.2774G= (p.Gly925=)
c.3218G= (p.Gly1073=)
9g.135786303G>TCA375491652KCNT1c.3284G>T (p.Gly1095Val)
c.3125G>T (p.Gly1042Val)
c.3032G>T (p.Gly1011Val)
c.3041G>T (p.Gly1014Val)
c.3185G>T (p.Gly1062Val)
c.*2894G>T (n.*2894G>T)
c.3167G>T (p.Gly1056Val)
c.3206G>T (p.Gly1069Val)
c.3221G>T (p.Gly1074Val)
n.3969G>T
c.3227G>T (p.Gly1076Val)
c.3149G>T (p.Gly1050Val)
c.3119G>T (p.Gly1040Val)
c.3419G>T (p.Gly1140Val)
c.3428G>T (p.Gly1143Val)
c.2774G>T (p.Gly925Val)
c.3218G>T (p.Gly1073Val)
 gnomAD v4
9g.135786304C>ACA467821208KCNT1c.3285C>A (p.Gly1095=)
c.3126C>A (p.Gly1042=)
c.3033C>A (p.Gly1011=)
c.3042C>A (p.Gly1014=)
c.3186C>A (p.Gly1062=)
c.*2895C>A (n.*2895C>A)
c.3168C>A (p.Gly1056=)
c.3207C>A (p.Gly1069=)
c.3222C>A (p.Gly1074=)
n.3970C>A
c.3228C>A (p.Gly1076=)
c.3150C>A (p.Gly1050=)
c.3120C>A (p.Gly1040=)
c.3420C>A (p.Gly1140=)
c.3429C>A (p.Gly1143=)
c.2775C>A (p.Gly925=)
c.3219C>A (p.Gly1073=)
9g.135786304C=CA1883887740KCNT1c.3285C= (p.Gly1095=)
c.3126C= (p.Gly1042=)
c.3033C= (p.Gly1011=)
c.3042C= (p.Gly1014=)
c.3186C= (p.Gly1062=)
c.*2895C= (n.*2895C=)
c.3168C= (p.Gly1056=)
c.3207C= (p.Gly1069=)
c.3222C= (p.Gly1074=)
n.3970C=
c.3228C= (p.Gly1076=)
c.3150C= (p.Gly1050=)
c.3120C= (p.Gly1040=)
c.3420C= (p.Gly1140=)
c.3429C= (p.Gly1143=)
c.2775C= (p.Gly925=)
c.3219C= (p.Gly1073=)
9g.135786304C>GCA467821207KCNT1c.3285C>G (p.Gly1095=)
c.3126C>G (p.Gly1042=)
c.3033C>G (p.Gly1011=)
c.3042C>G (p.Gly1014=)
c.3186C>G (p.Gly1062=)
c.*2895C>G (n.*2895C>G)
c.3168C>G (p.Gly1056=)
c.3207C>G (p.Gly1069=)
c.3222C>G (p.Gly1074=)
n.3970C>G
c.3228C>G (p.Gly1076=)
c.3150C>G (p.Gly1050=)
c.3120C>G (p.Gly1040=)
c.3420C>G (p.Gly1140=)
c.3429C>G (p.Gly1143=)
c.2775C>G (p.Gly925=)
c.3219C>G (p.Gly1073=)
 dbSNP
9g.135786304C>TCA5327768KCNT1c.3285C>T (p.Gly1095=)
c.3126C>T (p.Gly1042=)
c.3033C>T (p.Gly1011=)
c.3042C>T (p.Gly1014=)
c.3186C>T (p.Gly1062=)
c.*2895C>T (n.*2895C>T)
c.3168C>T (p.Gly1056=)
c.3207C>T (p.Gly1069=)
c.3222C>T (p.Gly1074=)
n.3970C>T
c.3228C>T (p.Gly1076=)
c.3150C>T (p.Gly1050=)
c.3120C>T (p.Gly1040=)
c.3420C>T (p.Gly1140=)
c.3429C>T (p.Gly1143=)
c.2775C>T (p.Gly925=)
c.3219C>T (p.Gly1073=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.135786305G>ACA5327769KCNT1c.3286G>A (p.Gly1096Ser)
c.3127G>A (p.Gly1043Ser)
c.3034G>A (p.Gly1012Ser)
c.3043G>A (p.Gly1015Ser)
c.3187G>A (p.Gly1063Ser)
c.*2896G>A (n.*2896G>A)
c.3169G>A (p.Gly1057Ser)
c.3208G>A (p.Gly1070Ser)
c.3223G>A (p.Gly1075Ser)
n.3971G>A
c.3229G>A (p.Gly1077Ser)
c.3151G>A (p.Gly1051Ser)
c.3121G>A (p.Gly1041Ser)
c.3421G>A (p.Gly1141Ser)
c.3430G>A (p.Gly1144Ser)
c.2776G>A (p.Gly926Ser)
c.3220G>A (p.Gly1074Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.135786305G>CCA375491655KCNT1c.3286G>C (p.Gly1096Arg)
c.3127G>C (p.Gly1043Arg)
c.3034G>C (p.Gly1012Arg)
c.3043G>C (p.Gly1015Arg)
c.3187G>C (p.Gly1063Arg)
c.*2896G>C (n.*2896G>C)
c.3169G>C (p.Gly1057Arg)
c.3208G>C (p.Gly1070Arg)
c.3223G>C (p.Gly1075Arg)
n.3971G>C
c.3229G>C (p.Gly1077Arg)
c.3151G>C (p.Gly1051Arg)
c.3121G>C (p.Gly1041Arg)
c.3421G>C (p.Gly1141Arg)
c.3430G>C (p.Gly1144Arg)
c.2776G>C (p.Gly926Arg)
c.3220G>C (p.Gly1074Arg)
9g.135786305G=CA1883887744KCNT1c.3286G= (p.Gly1096=)
c.3127G= (p.Gly1043=)
c.3034G= (p.Gly1012=)
c.3043G= (p.Gly1015=)
c.3187G= (p.Gly1063=)
c.*2896G= (n.*2896G=)
c.3169G= (p.Gly1057=)
c.3208G= (p.Gly1070=)
c.3223G= (p.Gly1075=)
n.3971G=
c.3229G= (p.Gly1077=)
c.3151G= (p.Gly1051=)
c.3121G= (p.Gly1041=)
c.3421G= (p.Gly1141=)
c.3430G= (p.Gly1144=)
c.2776G= (p.Gly926=)
c.3220G= (p.Gly1074=)
9g.135786305G>TCA375491656KCNT1c.3286G>T (p.Gly1096Cys)
c.3127G>T (p.Gly1043Cys)
c.3034G>T (p.Gly1012Cys)
c.3043G>T (p.Gly1015Cys)
c.3187G>T (p.Gly1063Cys)
c.*2896G>T (n.*2896G>T)
c.3169G>T (p.Gly1057Cys)
c.3208G>T (p.Gly1070Cys)
c.3223G>T (p.Gly1075Cys)
n.3971G>T
c.3229G>T (p.Gly1077Cys)
c.3151G>T (p.Gly1051Cys)
c.3121G>T (p.Gly1041Cys)
c.3421G>T (p.Gly1141Cys)
c.3430G>T (p.Gly1144Cys)
c.2776G>T (p.Gly926Cys)
c.3220G>T (p.Gly1074Cys)
9g.135786306G>ACA375491657KCNT1c.3287G>A (p.Gly1096Asp)
c.3128G>A (p.Gly1043Asp)
c.3035G>A (p.Gly1012Asp)
c.3044G>A (p.Gly1015Asp)
c.3188G>A (p.Gly1063Asp)
c.*2897G>A (n.*2897G>A)
c.3170G>A (p.Gly1057Asp)
c.3209G>A (p.Gly1070Asp)
c.3224G>A (p.Gly1075Asp)
n.3972G>A
c.3230G>A (p.Gly1077Asp)
c.3152G>A (p.Gly1051Asp)
c.3122G>A (p.Gly1041Asp)
c.3422G>A (p.Gly1141Asp)
c.3431G>A (p.Gly1144Asp)
c.2777G>A (p.Gly926Asp)
c.3221G>A (p.Gly1074Asp)
9g.135786306G>CCA375491658KCNT1c.3287G>C (p.Gly1096Ala)
c.3128G>C (p.Gly1043Ala)
c.3035G>C (p.Gly1012Ala)
c.3044G>C (p.Gly1015Ala)
c.3188G>C (p.Gly1063Ala)
c.*2897G>C (n.*2897G>C)
c.3170G>C (p.Gly1057Ala)
c.3209G>C (p.Gly1070Ala)
c.3224G>C (p.Gly1075Ala)
n.3972G>C
c.3230G>C (p.Gly1077Ala)
c.3152G>C (p.Gly1051Ala)
c.3122G>C (p.Gly1041Ala)
c.3422G>C (p.Gly1141Ala)
c.3431G>C (p.Gly1144Ala)
c.2777G>C (p.Gly926Ala)
c.3221G>C (p.Gly1074Ala)
9g.135786306G>TCA375491659KCNT1c.3287G>T (p.Gly1096Val)
c.3128G>T (p.Gly1043Val)
c.3035G>T (p.Gly1012Val)
c.3044G>T (p.Gly1015Val)
c.3188G>T (p.Gly1063Val)
c.*2897G>T (n.*2897G>T)
c.3170G>T (p.Gly1057Val)
c.3209G>T (p.Gly1070Val)
c.3224G>T (p.Gly1075Val)
n.3972G>T
c.3230G>T (p.Gly1077Val)
c.3152G>T (p.Gly1051Val)
c.3122G>T (p.Gly1041Val)
c.3422G>T (p.Gly1141Val)
c.3431G>T (p.Gly1144Val)
c.2777G>T (p.Gly926Val)
c.3221G>T (p.Gly1074Val)
9g.135786307C>ACA467821209KCNT1c.3288C>A (p.Gly1096=)
c.3129C>A (p.Gly1043=)
c.3036C>A (p.Gly1012=)
c.3045C>A (p.Gly1015=)
c.3189C>A (p.Gly1063=)
c.*2898C>A (n.*2898C>A)
c.3171C>A (p.Gly1057=)
c.3210C>A (p.Gly1070=)
c.3225C>A (p.Gly1075=)
n.3973C>A
c.3231C>A (p.Gly1077=)
c.3153C>A (p.Gly1051=)
c.3123C>A (p.Gly1041=)
c.3423C>A (p.Gly1141=)
c.3432C>A (p.Gly1144=)
c.2778C>A (p.Gly926=)
c.3222C>A (p.Gly1074=)
 dbSNP gnomAD v3 gnomAD v4
9g.135786307C=CA1883887754KCNT1c.3288C= (p.Gly1096=)
c.3129C= (p.Gly1043=)
c.3036C= (p.Gly1012=)
c.3045C= (p.Gly1015=)
c.3189C= (p.Gly1063=)
c.*2898C= (n.*2898C=)
c.3171C= (p.Gly1057=)
c.3210C= (p.Gly1070=)
c.3225C= (p.Gly1075=)
n.3973C=
c.3231C= (p.Gly1077=)
c.3153C= (p.Gly1051=)
c.3123C= (p.Gly1041=)
c.3423C= (p.Gly1141=)
c.3432C= (p.Gly1144=)
c.2778C= (p.Gly926=)
c.3222C= (p.Gly1074=)
9g.135786307C>GCA467821210KCNT1c.3288C>G (p.Gly1096=)
c.3129C>G (p.Gly1043=)
c.3036C>G (p.Gly1012=)
c.3045C>G (p.Gly1015=)
c.3189C>G (p.Gly1063=)
c.*2898C>G (n.*2898C>G)
c.3171C>G (p.Gly1057=)
c.3210C>G (p.Gly1070=)
c.3225C>G (p.Gly1075=)
n.3973C>G
c.3231C>G (p.Gly1077=)
c.3153C>G (p.Gly1051=)
c.3123C>G (p.Gly1041=)
c.3423C>G (p.Gly1141=)
c.3432C>G (p.Gly1144=)
c.2778C>G (p.Gly926=)
c.3222C>G (p.Gly1074=)
9g.135786307C>TCA5327770KCNT1c.3288C>T (p.Gly1096=)
c.3129C>T (p.Gly1043=)
c.3036C>T (p.Gly1012=)
c.3045C>T (p.Gly1015=)
c.3189C>T (p.Gly1063=)
c.*2898C>T (n.*2898C>T)
c.3171C>T (p.Gly1057=)
c.3210C>T (p.Gly1070=)
c.3225C>T (p.Gly1075=)
n.3973C>T
c.3231C>T (p.Gly1077=)
c.3153C>T (p.Gly1051=)
c.3123C>T (p.Gly1041=)
c.3423C>T (p.Gly1141=)
c.3432C>T (p.Gly1144=)
c.2778C>T (p.Gly926=)
c.3222C>T (p.Gly1074=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.135786308G>ACA5327771KCNT1c.3289G>A (p.Gly1097Ser)
c.3130G>A (p.Gly1044Ser)
c.3037G>A (p.Gly1013Ser)
c.3046G>A (p.Gly1016Ser)
c.3190G>A (p.Gly1064Ser)
c.*2899G>A (n.*2899G>A)
c.3172G>A (p.Gly1058Ser)
c.3211G>A (p.Gly1071Ser)
c.3226G>A (p.Gly1076Ser)
n.3974G>A
c.3232G>A (p.Gly1078Ser)
c.3154G>A (p.Gly1052Ser)
c.3124G>A (p.Gly1042Ser)
c.3424G>A (p.Gly1142Ser)
c.3433G>A (p.Gly1145Ser)
c.2779G>A (p.Gly927Ser)
c.3223G>A (p.Gly1075Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786308G>CCA375491660KCNT1c.3289G>C (p.Gly1097Arg)
c.3130G>C (p.Gly1044Arg)
c.3037G>C (p.Gly1013Arg)
c.3046G>C (p.Gly1016Arg)
c.3190G>C (p.Gly1064Arg)
c.*2899G>C (n.*2899G>C)
c.3172G>C (p.Gly1058Arg)
c.3211G>C (p.Gly1071Arg)
c.3226G>C (p.Gly1076Arg)
n.3974G>C
c.3232G>C (p.Gly1078Arg)
c.3154G>C (p.Gly1052Arg)
c.3124G>C (p.Gly1042Arg)
c.3424G>C (p.Gly1142Arg)
c.3433G>C (p.Gly1145Arg)
c.2779G>C (p.Gly927Arg)
c.3223G>C (p.Gly1075Arg)
9g.135786308G=CA1883887766KCNT1c.3289G= (p.Gly1097=)
c.3130G= (p.Gly1044=)
c.3037G= (p.Gly1013=)
c.3046G= (p.Gly1016=)
c.3190G= (p.Gly1064=)
c.*2899G= (n.*2899G=)
c.3172G= (p.Gly1058=)
c.3211G= (p.Gly1071=)
c.3226G= (p.Gly1076=)
n.3974G=
c.3232G= (p.Gly1078=)
c.3154G= (p.Gly1052=)
c.3124G= (p.Gly1042=)
c.3424G= (p.Gly1142=)
c.3433G= (p.Gly1145=)
c.2779G= (p.Gly927=)
c.3223G= (p.Gly1075=)
9g.135786308G>TCA375491661KCNT1c.3289G>T (p.Gly1097Cys)
c.3130G>T (p.Gly1044Cys)
c.3037G>T (p.Gly1013Cys)
c.3046G>T (p.Gly1016Cys)
c.3190G>T (p.Gly1064Cys)
c.*2899G>T (n.*2899G>T)
c.3172G>T (p.Gly1058Cys)
c.3211G>T (p.Gly1071Cys)
c.3226G>T (p.Gly1076Cys)
n.3974G>T
c.3232G>T (p.Gly1078Cys)
c.3154G>T (p.Gly1052Cys)
c.3124G>T (p.Gly1042Cys)
c.3424G>T (p.Gly1142Cys)
c.3433G>T (p.Gly1145Cys)
c.2779G>T (p.Gly927Cys)
c.3223G>T (p.Gly1075Cys)
9g.135786309G>ACA375491662KCNT1c.3290G>A (p.Gly1097Asp)
c.3131G>A (p.Gly1044Asp)
c.3038G>A (p.Gly1013Asp)
c.3047G>A (p.Gly1016Asp)
c.3191G>A (p.Gly1064Asp)
c.*2900G>A (n.*2900G>A)
c.3173G>A (p.Gly1058Asp)
c.3212G>A (p.Gly1071Asp)
c.3227G>A (p.Gly1076Asp)
n.3975G>A
c.3233G>A (p.Gly1078Asp)
c.3155G>A (p.Gly1052Asp)
c.3125G>A (p.Gly1042Asp)
c.3425G>A (p.Gly1142Asp)
c.3434G>A (p.Gly1145Asp)
c.2780G>A (p.Gly927Asp)
c.3224G>A (p.Gly1075Asp)
 dbSNP gnomAD v4
9g.135786309G>CCA375491663KCNT1c.3290G>C (p.Gly1097Ala)
c.3131G>C (p.Gly1044Ala)
c.3038G>C (p.Gly1013Ala)
c.3047G>C (p.Gly1016Ala)
c.3191G>C (p.Gly1064Ala)
c.*2900G>C (n.*2900G>C)
c.3173G>C (p.Gly1058Ala)
c.3212G>C (p.Gly1071Ala)
c.3227G>C (p.Gly1076Ala)
n.3975G>C
c.3233G>C (p.Gly1078Ala)
c.3155G>C (p.Gly1052Ala)
c.3125G>C (p.Gly1042Ala)
c.3425G>C (p.Gly1142Ala)
c.3434G>C (p.Gly1145Ala)
c.2780G>C (p.Gly927Ala)
c.3224G>C (p.Gly1075Ala)
9g.135786309G=CA1883887771KCNT1c.3290G= (p.Gly1097=)
c.3131G= (p.Gly1044=)
c.3038G= (p.Gly1013=)
c.3047G= (p.Gly1016=)
c.3191G= (p.Gly1064=)
c.*2900G= (n.*2900G=)
c.3173G= (p.Gly1058=)
c.3212G= (p.Gly1071=)
c.3227G= (p.Gly1076=)
n.3975G=
c.3233G= (p.Gly1078=)
c.3155G= (p.Gly1052=)
c.3125G= (p.Gly1042=)
c.3425G= (p.Gly1142=)
c.3434G= (p.Gly1145=)
c.2780G= (p.Gly927=)
c.3224G= (p.Gly1075=)
9g.135786309G>TCA201424024KCNT1c.3290G>T (p.Gly1097Val)
c.3131G>T (p.Gly1044Val)
c.3038G>T (p.Gly1013Val)
c.3047G>T (p.Gly1016Val)
c.3191G>T (p.Gly1064Val)
c.*2900G>T (n.*2900G>T)
c.3173G>T (p.Gly1058Val)
c.3212G>T (p.Gly1071Val)
c.3227G>T (p.Gly1076Val)
n.3975G>T
c.3233G>T (p.Gly1078Val)
c.3155G>T (p.Gly1052Val)
c.3125G>T (p.Gly1042Val)
c.3425G>T (p.Gly1142Val)
c.3434G>T (p.Gly1145Val)
c.2780G>T (p.Gly927Val)
c.3224G>T (p.Gly1075Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched