Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.135786312_135786339dupCA5327772KCNT1c.3293_3320dup (p.Lys1108ProfsTer?)
c.3134_3161dup (p.Lys1055ProfsTer?)
c.3041_3068dup (p.Lys1024ProfsTer?)
c.3050_3077dup (p.Lys1027ProfsTer?)
c.3194_3221dup (p.Lys1075ProfsTer?)
c.*2903_*2930dup (n.*2903_*2930dup)
c.3176_3203dup (p.Lys1069ProfsTer?)
c.3215_3242dup (p.Lys1082ProfsTer?)
c.3230_3257dup (p.Lys1087ProfsTer?)
n.3978_4005dup
c.3236_3263dup (p.Lys1089ProfsTer?)
c.3158_3185dup (p.Lys1063ProfsTer?)
c.3128_3155dup (p.Lys1053ProfsTer?)
c.3428_3455dup (p.Lys1153ProfsTer?)
c.3437_3464dup (p.Lys1156ProfsTer?)
c.2783_2810dup (p.Lys938ProfsTer?)
c.3227_3254dup (p.Lys1086ProfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135786314C>ACA201424035KCNT1c.3295C>A (p.Pro1099Thr)
c.3136C>A (p.Pro1046Thr)
c.3043C>A (p.Pro1015Thr)
c.3052C>A (p.Pro1018Thr)
c.3196C>A (p.Pro1066Thr)
c.*2905C>A (n.*2905C>A)
c.3178C>A (p.Pro1060Thr)
c.3217C>A (p.Pro1073Thr)
c.3232C>A (p.Pro1078Thr)
n.3980C>A
c.3238C>A (p.Pro1080Thr)
c.3160C>A (p.Pro1054Thr)
c.3130C>A (p.Pro1044Thr)
c.3430C>A (p.Pro1144Thr)
c.3439C>A (p.Pro1147Thr)
c.2785C>A (p.Pro929Thr)
c.3229C>A (p.Pro1077Thr)
 dbSNP gnomAD v4
9g.135786314C=CA1883887787KCNT1c.3295C= (p.Pro1099=)
c.3136C= (p.Pro1046=)
c.3043C= (p.Pro1015=)
c.3052C= (p.Pro1018=)
c.3196C= (p.Pro1066=)
c.*2905C= (n.*2905C=)
c.3178C= (p.Pro1060=)
c.3217C= (p.Pro1073=)
c.3232C= (p.Pro1078=)
n.3980C=
c.3238C= (p.Pro1080=)
c.3160C= (p.Pro1054=)
c.3130C= (p.Pro1044=)
c.3430C= (p.Pro1144=)
c.3439C= (p.Pro1147=)
c.2785C= (p.Pro929=)
c.3229C= (p.Pro1077=)
9g.135786314C>GCA375491671KCNT1c.3295C>G (p.Pro1099Ala)
c.3136C>G (p.Pro1046Ala)
c.3043C>G (p.Pro1015Ala)
c.3052C>G (p.Pro1018Ala)
c.3196C>G (p.Pro1066Ala)
c.*2905C>G (n.*2905C>G)
c.3178C>G (p.Pro1060Ala)
c.3217C>G (p.Pro1073Ala)
c.3232C>G (p.Pro1078Ala)
n.3980C>G
c.3238C>G (p.Pro1080Ala)
c.3160C>G (p.Pro1054Ala)
c.3130C>G (p.Pro1044Ala)
c.3430C>G (p.Pro1144Ala)
c.3439C>G (p.Pro1147Ala)
c.2785C>G (p.Pro929Ala)
c.3229C>G (p.Pro1077Ala)
9g.135786314C>TCA202185KCNT1c.3295C>T (p.Pro1099Ser)
c.3136C>T (p.Pro1046Ser)
c.3043C>T (p.Pro1015Ser)
c.3052C>T (p.Pro1018Ser)
c.3196C>T (p.Pro1066Ser)
c.*2905C>T (n.*2905C>T)
c.3178C>T (p.Pro1060Ser)
c.3217C>T (p.Pro1073Ser)
c.3232C>T (p.Pro1078Ser)
n.3980C>T
c.3238C>T (p.Pro1080Ser)
c.3160C>T (p.Pro1054Ser)
c.3130C>T (p.Pro1044Ser)
c.3430C>T (p.Pro1144Ser)
c.3439C>T (p.Pro1147Ser)
c.2785C>T (p.Pro929Ser)
c.3229C>T (p.Pro1077Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786315C>ACA375491672KCNT1c.3296C>A (p.Pro1099His)
c.3137C>A (p.Pro1046His)
c.3044C>A (p.Pro1015His)
c.3053C>A (p.Pro1018His)
c.3197C>A (p.Pro1066His)
c.*2906C>A (n.*2906C>A)
c.3179C>A (p.Pro1060His)
c.3218C>A (p.Pro1073His)
c.3233C>A (p.Pro1078His)
n.3981C>A
c.3239C>A (p.Pro1080His)
c.3161C>A (p.Pro1054His)
c.3131C>A (p.Pro1044His)
c.3431C>A (p.Pro1144His)
c.3440C>A (p.Pro1147His)
c.2786C>A (p.Pro929His)
c.3230C>A (p.Pro1077His)
9g.135786315C=CA1883887798KCNT1c.3296C= (p.Pro1099=)
c.3137C= (p.Pro1046=)
c.3044C= (p.Pro1015=)
c.3053C= (p.Pro1018=)
c.3197C= (p.Pro1066=)
c.*2906C= (n.*2906C=)
c.3179C= (p.Pro1060=)
c.3218C= (p.Pro1073=)
c.3233C= (p.Pro1078=)
n.3981C=
c.3239C= (p.Pro1080=)
c.3161C= (p.Pro1054=)
c.3131C= (p.Pro1044=)
c.3431C= (p.Pro1144=)
c.3440C= (p.Pro1147=)
c.2786C= (p.Pro929=)
c.3230C= (p.Pro1077=)
9g.135786315C>GCA375491673KCNT1c.3296C>G (p.Pro1099Arg)
c.3137C>G (p.Pro1046Arg)
c.3044C>G (p.Pro1015Arg)
c.3053C>G (p.Pro1018Arg)
c.3197C>G (p.Pro1066Arg)
c.*2906C>G (n.*2906C>G)
c.3179C>G (p.Pro1060Arg)
c.3218C>G (p.Pro1073Arg)
c.3233C>G (p.Pro1078Arg)
n.3981C>G
c.3239C>G (p.Pro1080Arg)
c.3161C>G (p.Pro1054Arg)
c.3131C>G (p.Pro1044Arg)
c.3431C>G (p.Pro1144Arg)
c.3440C>G (p.Pro1147Arg)
c.2786C>G (p.Pro929Arg)
c.3230C>G (p.Pro1077Arg)
 gnomAD v4
9g.135786315C>TCA5327774KCNT1c.3296C>T (p.Pro1099Leu)
c.3137C>T (p.Pro1046Leu)
c.3044C>T (p.Pro1015Leu)
c.3053C>T (p.Pro1018Leu)
c.3197C>T (p.Pro1066Leu)
c.*2906C>T (n.*2906C>T)
c.3179C>T (p.Pro1060Leu)
c.3218C>T (p.Pro1073Leu)
c.3233C>T (p.Pro1078Leu)
n.3981C>T
c.3239C>T (p.Pro1080Leu)
c.3161C>T (p.Pro1054Leu)
c.3131C>T (p.Pro1044Leu)
c.3431C>T (p.Pro1144Leu)
c.3440C>T (p.Pro1147Leu)
c.2786C>T (p.Pro929Leu)
c.3230C>T (p.Pro1077Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135786316C>ACA467821215KCNT1c.3297C>A (p.Pro1099=)
c.3138C>A (p.Pro1046=)
c.3045C>A (p.Pro1015=)
c.3054C>A (p.Pro1018=)
c.3198C>A (p.Pro1066=)
c.*2907C>A (n.*2907C>A)
c.3180C>A (p.Pro1060=)
c.3219C>A (p.Pro1073=)
c.3234C>A (p.Pro1078=)
n.3982C>A
c.3240C>A (p.Pro1080=)
c.3162C>A (p.Pro1054=)
c.3132C>A (p.Pro1044=)
c.3432C>A (p.Pro1144=)
c.3441C>A (p.Pro1147=)
c.2787C>A (p.Pro929=)
c.3231C>A (p.Pro1077=)
 gnomAD v4
9g.135786316C=CA1883887806KCNT1c.3297C= (p.Pro1099=)
c.3138C= (p.Pro1046=)
c.3045C= (p.Pro1015=)
c.3054C= (p.Pro1018=)
c.3198C= (p.Pro1066=)
c.*2907C= (n.*2907C=)
c.3180C= (p.Pro1060=)
c.3219C= (p.Pro1073=)
c.3234C= (p.Pro1078=)
n.3982C=
c.3240C= (p.Pro1080=)
c.3162C= (p.Pro1054=)
c.3132C= (p.Pro1044=)
c.3432C= (p.Pro1144=)
c.3441C= (p.Pro1147=)
c.2787C= (p.Pro929=)
c.3231C= (p.Pro1077=)
9g.135786316C>GCA467821216KCNT1c.3297C>G (p.Pro1099=)
c.3138C>G (p.Pro1046=)
c.3045C>G (p.Pro1015=)
c.3054C>G (p.Pro1018=)
c.3198C>G (p.Pro1066=)
c.*2907C>G (n.*2907C>G)
c.3180C>G (p.Pro1060=)
c.3219C>G (p.Pro1073=)
c.3234C>G (p.Pro1078=)
n.3982C>G
c.3240C>G (p.Pro1080=)
c.3162C>G (p.Pro1054=)
c.3132C>G (p.Pro1044=)
c.3432C>G (p.Pro1144=)
c.3441C>G (p.Pro1147=)
c.2787C>G (p.Pro929=)
c.3231C>G (p.Pro1077=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.135786316C>TCA5327775KCNT1c.3297C>T (p.Pro1099=)
c.3138C>T (p.Pro1046=)
c.3045C>T (p.Pro1015=)
c.3054C>T (p.Pro1018=)
c.3198C>T (p.Pro1066=)
c.*2907C>T (n.*2907C>T)
c.3180C>T (p.Pro1060=)
c.3219C>T (p.Pro1073=)
c.3234C>T (p.Pro1078=)
n.3982C>T
c.3240C>T (p.Pro1080=)
c.3162C>T (p.Pro1054=)
c.3132C>T (p.Pro1044=)
c.3432C>T (p.Pro1144=)
c.3441C>T (p.Pro1147=)
c.2787C>T (p.Pro929=)
c.3231C>T (p.Pro1077=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786317G>ACA5327776KCNT1c.3298G>A (p.Ala1100Thr)
c.3139G>A (p.Ala1047Thr)
c.3046G>A (p.Ala1016Thr)
c.3055G>A (p.Ala1019Thr)
c.3199G>A (p.Ala1067Thr)
c.*2908G>A (n.*2908G>A)
c.3181G>A (p.Ala1061Thr)
c.3220G>A (p.Ala1074Thr)
c.3235G>A (p.Ala1079Thr)
n.3983G>A
c.3241G>A (p.Ala1081Thr)
c.3163G>A (p.Ala1055Thr)
c.3133G>A (p.Ala1045Thr)
c.3433G>A (p.Ala1145Thr)
c.3442G>A (p.Ala1148Thr)
c.2788G>A (p.Ala930Thr)
c.3232G>A (p.Ala1078Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.135786317G>CCA375491674KCNT1c.3298G>C (p.Ala1100Pro)
c.3139G>C (p.Ala1047Pro)
c.3046G>C (p.Ala1016Pro)
c.3055G>C (p.Ala1019Pro)
c.3199G>C (p.Ala1067Pro)
c.*2908G>C (n.*2908G>C)
c.3181G>C (p.Ala1061Pro)
c.3220G>C (p.Ala1074Pro)
c.3235G>C (p.Ala1079Pro)
n.3983G>C
c.3241G>C (p.Ala1081Pro)
c.3163G>C (p.Ala1055Pro)
c.3133G>C (p.Ala1045Pro)
c.3433G>C (p.Ala1145Pro)
c.3442G>C (p.Ala1148Pro)
c.2788G>C (p.Ala930Pro)
c.3232G>C (p.Ala1078Pro)
9g.135786317G=CA1883887816KCNT1c.3298G= (p.Ala1100=)
c.3139G= (p.Ala1047=)
c.3046G= (p.Ala1016=)
c.3055G= (p.Ala1019=)
c.3199G= (p.Ala1067=)
c.*2908G= (n.*2908G=)
c.3181G= (p.Ala1061=)
c.3220G= (p.Ala1074=)
c.3235G= (p.Ala1079=)
n.3983G=
c.3241G= (p.Ala1081=)
c.3163G= (p.Ala1055=)
c.3133G= (p.Ala1045=)
c.3433G= (p.Ala1145=)
c.3442G= (p.Ala1148=)
c.2788G= (p.Ala930=)
c.3232G= (p.Ala1078=)
9g.135786317G>TCA375491675KCNT1c.3298G>T (p.Ala1100Ser)
c.3139G>T (p.Ala1047Ser)
c.3046G>T (p.Ala1016Ser)
c.3055G>T (p.Ala1019Ser)
c.3199G>T (p.Ala1067Ser)
c.*2908G>T (n.*2908G>T)
c.3181G>T (p.Ala1061Ser)
c.3220G>T (p.Ala1074Ser)
c.3235G>T (p.Ala1079Ser)
n.3983G>T
c.3241G>T (p.Ala1081Ser)
c.3163G>T (p.Ala1055Ser)
c.3133G>T (p.Ala1045Ser)
c.3433G>T (p.Ala1145Ser)
c.3442G>T (p.Ala1148Ser)
c.2788G>T (p.Ala930Ser)
c.3232G>T (p.Ala1078Ser)
 gnomAD v4
9g.135786317_135786322dupCA2692525513KCNT1c.3298_3303dup (p.Glu1101_His1102insAlaGlu)
c.3139_3144dup (p.Glu1048_His1049insAlaGlu)
c.3046_3051dup (p.Glu1017_His1018insAlaGlu)
c.3055_3060dup (p.Glu1020_His1021insAlaGlu)
c.3199_3204dup (p.Glu1068_His1069insAlaGlu)
c.*2908_*2913dup (n.*2908_*2913dup)
c.3181_3186dup (p.Glu1062_His1063insAlaGlu)
c.3220_3225dup (p.Glu1075_His1076insAlaGlu)
c.3235_3240dup (p.Glu1080_His1081insAlaGlu)
n.3983_3988dup
c.3241_3246dup (p.Glu1082_His1083insAlaGlu)
c.3163_3168dup (p.Glu1056_His1057insAlaGlu)
c.3133_3138dup (p.Glu1046_His1047insAlaGlu)
c.3433_3438dup (p.Glu1146_His1147insAlaGlu)
c.3442_3447dup (p.Glu1149_His1150insAlaGlu)
c.2788_2793dup (p.Glu931_His932insAlaGlu)
c.3232_3237dup (p.Glu1079_His1080insAlaGlu)
 gnomAD v4
9g.135786318C>ACA375491676KCNT1c.3299C>A (p.Ala1100Glu)
c.3140C>A (p.Ala1047Glu)
c.3047C>A (p.Ala1016Glu)
c.3056C>A (p.Ala1019Glu)
c.3200C>A (p.Ala1067Glu)
c.*2909C>A (n.*2909C>A)
c.3182C>A (p.Ala1061Glu)
c.3221C>A (p.Ala1074Glu)
c.3236C>A (p.Ala1079Glu)
n.3984C>A
c.3242C>A (p.Ala1081Glu)
c.3164C>A (p.Ala1055Glu)
c.3134C>A (p.Ala1045Glu)
c.3434C>A (p.Ala1145Glu)
c.3443C>A (p.Ala1148Glu)
c.2789C>A (p.Ala930Glu)
c.3233C>A (p.Ala1078Glu)
 gnomAD v4
9g.135786318C=CA1883887821KCNT1c.3299C= (p.Ala1100=)
c.3140C= (p.Ala1047=)
c.3047C= (p.Ala1016=)
c.3056C= (p.Ala1019=)
c.3200C= (p.Ala1067=)
c.*2909C= (n.*2909C=)
c.3182C= (p.Ala1061=)
c.3221C= (p.Ala1074=)
c.3236C= (p.Ala1079=)
n.3984C=
c.3242C= (p.Ala1081=)
c.3164C= (p.Ala1055=)
c.3134C= (p.Ala1045=)
c.3434C= (p.Ala1145=)
c.3443C= (p.Ala1148=)
c.2789C= (p.Ala930=)
c.3233C= (p.Ala1078=)
9g.135786318C>GCA375491678KCNT1c.3299C>G (p.Ala1100Gly)
c.3140C>G (p.Ala1047Gly)
c.3047C>G (p.Ala1016Gly)
c.3056C>G (p.Ala1019Gly)
c.3200C>G (p.Ala1067Gly)
c.*2909C>G (n.*2909C>G)
c.3182C>G (p.Ala1061Gly)
c.3221C>G (p.Ala1074Gly)
c.3236C>G (p.Ala1079Gly)
n.3984C>G
c.3242C>G (p.Ala1081Gly)
c.3164C>G (p.Ala1055Gly)
c.3134C>G (p.Ala1045Gly)
c.3434C>G (p.Ala1145Gly)
c.3443C>G (p.Ala1148Gly)
c.2789C>G (p.Ala930Gly)
c.3233C>G (p.Ala1078Gly)
9g.135786318C>TCA375491677KCNT1c.3299C>T (p.Ala1100Val)
c.3140C>T (p.Ala1047Val)
c.3047C>T (p.Ala1016Val)
c.3056C>T (p.Ala1019Val)
c.3200C>T (p.Ala1067Val)
c.*2909C>T (n.*2909C>T)
c.3182C>T (p.Ala1061Val)
c.3221C>T (p.Ala1074Val)
c.3236C>T (p.Ala1079Val)
n.3984C>T
c.3242C>T (p.Ala1081Val)
c.3164C>T (p.Ala1055Val)
c.3134C>T (p.Ala1045Val)
c.3434C>T (p.Ala1145Val)
c.3443C>T (p.Ala1148Val)
c.2789C>T (p.Ala930Val)
c.3233C>T (p.Ala1078Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.135786319_135786329dupCA2692525517KCNT1c.3300_3310dup (p.Leu1104GlnfsTer17)
c.3141_3151dup (p.Leu1051GlnfsTer17)
c.3048_3058dup (p.Leu1020GlnfsTer17)
c.3057_3067dup (p.Leu1023GlnfsTer17)
c.3201_3211dup (p.Leu1071GlnfsTer17)
c.*2910_*2920dup (n.*2910_*2920dup)
c.3183_3193dup (p.Leu1065GlnfsTer17)
c.3222_3232dup (p.Leu1078GlnfsTer17)
c.3237_3247dup (p.Leu1083GlnfsTer17)
n.3985_3995dup
c.3243_3253dup (p.Leu1085GlnfsTer17)
c.3165_3175dup (p.Leu1059GlnfsTer17)
c.3135_3145dup (p.Leu1049GlnfsTer17)
c.3435_3445dup (p.Leu1149GlnfsTer17)
c.3444_3454dup (p.Leu1152GlnfsTer17)
c.2790_2800dup (p.Leu934GlnfsTer17)
c.3234_3244dup (p.Leu1082GlnfsTer17)
 gnomAD v4
9g.135786319A>CCA467821217KCNT1c.3300A>C (p.Ala1100=)
c.3141A>C (p.Ala1047=)
c.3048A>C (p.Ala1016=)
c.3057A>C (p.Ala1019=)
c.3201A>C (p.Ala1067=)
c.*2910A>C (n.*2910A>C)
c.3183A>C (p.Ala1061=)
c.3222A>C (p.Ala1074=)
c.3237A>C (p.Ala1079=)
n.3985A>C
c.3243A>C (p.Ala1081=)
c.3165A>C (p.Ala1055=)
c.3135A>C (p.Ala1045=)
c.3435A>C (p.Ala1145=)
c.3444A>C (p.Ala1148=)
c.2790A>C (p.Ala930=)
c.3234A>C (p.Ala1078=)
9g.135786319A>GCA467821218KCNT1c.3300A>G (p.Ala1100=)
c.3141A>G (p.Ala1047=)
c.3048A>G (p.Ala1016=)
c.3057A>G (p.Ala1019=)
c.3201A>G (p.Ala1067=)
c.*2910A>G (n.*2910A>G)
c.3183A>G (p.Ala1061=)
c.3222A>G (p.Ala1074=)
c.3237A>G (p.Ala1079=)
n.3985A>G
c.3243A>G (p.Ala1081=)
c.3165A>G (p.Ala1055=)
c.3135A>G (p.Ala1045=)
c.3435A>G (p.Ala1145=)
c.3444A>G (p.Ala1148=)
c.2790A>G (p.Ala930=)
c.3234A>G (p.Ala1078=)
9g.135786319A>TCA467821219KCNT1c.3300A>T (p.Ala1100=)
c.3141A>T (p.Ala1047=)
c.3048A>T (p.Ala1016=)
c.3057A>T (p.Ala1019=)
c.3201A>T (p.Ala1067=)
c.*2910A>T (n.*2910A>T)
c.3183A>T (p.Ala1061=)
c.3222A>T (p.Ala1074=)
c.3237A>T (p.Ala1079=)
n.3985A>T
c.3243A>T (p.Ala1081=)
c.3165A>T (p.Ala1055=)
c.3135A>T (p.Ala1045=)
c.3435A>T (p.Ala1145=)
c.3444A>T (p.Ala1148=)
c.2790A>T (p.Ala930=)
c.3234A>T (p.Ala1078=)
9g.135786320G>ACA375491679KCNT1c.3301G>A (p.Glu1101Lys)
c.3142G>A (p.Glu1048Lys)
c.3049G>A (p.Glu1017Lys)
c.3058G>A (p.Glu1020Lys)
c.3202G>A (p.Glu1068Lys)
c.*2911G>A (n.*2911G>A)
c.3184G>A (p.Glu1062Lys)
c.3223G>A (p.Glu1075Lys)
c.3238G>A (p.Glu1080Lys)
n.3986G>A
c.3244G>A (p.Glu1082Lys)
c.3166G>A (p.Glu1056Lys)
c.3136G>A (p.Glu1046Lys)
c.3436G>A (p.Glu1146Lys)
c.3445G>A (p.Glu1149Lys)
c.2791G>A (p.Glu931Lys)
c.3235G>A (p.Glu1079Lys)
9g.135786320G>CCA375491680KCNT1c.3301G>C (p.Glu1101Gln)
c.3142G>C (p.Glu1048Gln)
c.3049G>C (p.Glu1017Gln)
c.3058G>C (p.Glu1020Gln)
c.3202G>C (p.Glu1068Gln)
c.*2911G>C (n.*2911G>C)
c.3184G>C (p.Glu1062Gln)
c.3223G>C (p.Glu1075Gln)
c.3238G>C (p.Glu1080Gln)
n.3986G>C
c.3244G>C (p.Glu1082Gln)
c.3166G>C (p.Glu1056Gln)
c.3136G>C (p.Glu1046Gln)
c.3436G>C (p.Glu1146Gln)
c.3445G>C (p.Glu1149Gln)
c.2791G>C (p.Glu931Gln)
c.3235G>C (p.Glu1079Gln)
 dbSNP gnomAD v2 gnomAD v4
9g.135786320G=CA1883887826KCNT1c.3301G= (p.Glu1101=)
c.3142G= (p.Glu1048=)
c.3049G= (p.Glu1017=)
c.3058G= (p.Glu1020=)
c.3202G= (p.Glu1068=)
c.*2911G= (n.*2911G=)
c.3184G= (p.Glu1062=)
c.3223G= (p.Glu1075=)
c.3238G= (p.Glu1080=)
n.3986G=
c.3244G= (p.Glu1082=)
c.3166G= (p.Glu1056=)
c.3136G= (p.Glu1046=)
c.3436G= (p.Glu1146=)
c.3445G= (p.Glu1149=)
c.2791G= (p.Glu931=)
c.3235G= (p.Glu1079=)
9g.135786320G>TCA375491681KCNT1c.3301G>T (p.Glu1101Ter)
c.3142G>T (p.Glu1048Ter)
c.3049G>T (p.Glu1017Ter)
c.3058G>T (p.Glu1020Ter)
c.3202G>T (p.Glu1068Ter)
c.*2911G>T (n.*2911G>T)
c.3184G>T (p.Glu1062Ter)
c.3223G>T (p.Glu1075Ter)
c.3238G>T (p.Glu1080Ter)
n.3986G>T
c.3244G>T (p.Glu1082Ter)
c.3166G>T (p.Glu1056Ter)
c.3136G>T (p.Glu1046Ter)
c.3436G>T (p.Glu1146Ter)
c.3445G>T (p.Glu1149Ter)
c.2791G>T (p.Glu931Ter)
c.3235G>T (p.Glu1079Ter)
9g.135786321A>CCA375491682KCNT1c.3302A>C (p.Glu1101Ala)
c.3143A>C (p.Glu1048Ala)
c.3050A>C (p.Glu1017Ala)
c.3059A>C (p.Glu1020Ala)
c.3203A>C (p.Glu1068Ala)
c.*2912A>C (n.*2912A>C)
c.3185A>C (p.Glu1062Ala)
c.3224A>C (p.Glu1075Ala)
c.3239A>C (p.Glu1080Ala)
n.3987A>C
c.3245A>C (p.Glu1082Ala)
c.3167A>C (p.Glu1056Ala)
c.3137A>C (p.Glu1046Ala)
c.3437A>C (p.Glu1146Ala)
c.3446A>C (p.Glu1149Ala)
c.2792A>C (p.Glu931Ala)
c.3236A>C (p.Glu1079Ala)
9g.135786321A>GCA375491683KCNT1c.3302A>G (p.Glu1101Gly)
c.3143A>G (p.Glu1048Gly)
c.3050A>G (p.Glu1017Gly)
c.3059A>G (p.Glu1020Gly)
c.3203A>G (p.Glu1068Gly)
c.*2912A>G (n.*2912A>G)
c.3185A>G (p.Glu1062Gly)
c.3224A>G (p.Glu1075Gly)
c.3239A>G (p.Glu1080Gly)
n.3987A>G
c.3245A>G (p.Glu1082Gly)
c.3167A>G (p.Glu1056Gly)
c.3137A>G (p.Glu1046Gly)
c.3437A>G (p.Glu1146Gly)
c.3446A>G (p.Glu1149Gly)
c.2792A>G (p.Glu931Gly)
c.3236A>G (p.Glu1079Gly)
9g.135786321A>TCA375491684KCNT1c.3302A>T (p.Glu1101Val)
c.3143A>T (p.Glu1048Val)
c.3050A>T (p.Glu1017Val)
c.3059A>T (p.Glu1020Val)
c.3203A>T (p.Glu1068Val)
c.*2912A>T (n.*2912A>T)
c.3185A>T (p.Glu1062Val)
c.3224A>T (p.Glu1075Val)
c.3239A>T (p.Glu1080Val)
n.3987A>T
c.3245A>T (p.Glu1082Val)
c.3167A>T (p.Glu1056Val)
c.3137A>T (p.Glu1046Val)
c.3437A>T (p.Glu1146Val)
c.3446A>T (p.Glu1149Val)
c.2792A>T (p.Glu931Val)
c.3236A>T (p.Glu1079Val)
9g.135786322G>ACA467821220KCNT1c.3303G>A (p.Glu1101=)
c.3144G>A (p.Glu1048=)
c.3051G>A (p.Glu1017=)
c.3060G>A (p.Glu1020=)
c.3204G>A (p.Glu1068=)
c.*2913G>A (n.*2913G>A)
c.3186G>A (p.Glu1062=)
c.3225G>A (p.Glu1075=)
c.3240G>A (p.Glu1080=)
n.3988G>A
c.3246G>A (p.Glu1082=)
c.3168G>A (p.Glu1056=)
c.3138G>A (p.Glu1046=)
c.3438G>A (p.Glu1146=)
c.3447G>A (p.Glu1149=)
c.2793G>A (p.Glu931=)
c.3237G>A (p.Glu1079=)
9g.135786322G>CCA375491685KCNT1c.3303G>C (p.Glu1101Asp)
c.3144G>C (p.Glu1048Asp)
c.3051G>C (p.Glu1017Asp)
c.3060G>C (p.Glu1020Asp)
c.3204G>C (p.Glu1068Asp)
c.*2913G>C (n.*2913G>C)
c.3186G>C (p.Glu1062Asp)
c.3225G>C (p.Glu1075Asp)
c.3240G>C (p.Glu1080Asp)
n.3988G>C
c.3246G>C (p.Glu1082Asp)
c.3168G>C (p.Glu1056Asp)
c.3138G>C (p.Glu1046Asp)
c.3438G>C (p.Glu1146Asp)
c.3447G>C (p.Glu1149Asp)
c.2793G>C (p.Glu931Asp)
c.3237G>C (p.Glu1079Asp)
 dbSNP gnomAD v2 gnomAD v4
9g.135786322G=CA1883887835KCNT1c.3303G= (p.Glu1101=)
c.3144G= (p.Glu1048=)
c.3051G= (p.Glu1017=)
c.3060G= (p.Glu1020=)
c.3204G= (p.Glu1068=)
c.*2913G= (n.*2913G=)
c.3186G= (p.Glu1062=)
c.3225G= (p.Glu1075=)
c.3240G= (p.Glu1080=)
n.3988G=
c.3246G= (p.Glu1082=)
c.3168G= (p.Glu1056=)
c.3138G= (p.Glu1046=)
c.3438G= (p.Glu1146=)
c.3447G= (p.Glu1149=)
c.2793G= (p.Glu931=)
c.3237G= (p.Glu1079=)
9g.135786322G>TCA375491686KCNT1c.3303G>T (p.Glu1101Asp)
c.3144G>T (p.Glu1048Asp)
c.3051G>T (p.Glu1017Asp)
c.3060G>T (p.Glu1020Asp)
c.3204G>T (p.Glu1068Asp)
c.*2913G>T (n.*2913G>T)
c.3186G>T (p.Glu1062Asp)
c.3225G>T (p.Glu1075Asp)
c.3240G>T (p.Glu1080Asp)
n.3988G>T
c.3246G>T (p.Glu1082Asp)
c.3168G>T (p.Glu1056Asp)
c.3138G>T (p.Glu1046Asp)
c.3438G>T (p.Glu1146Asp)
c.3447G>T (p.Glu1149Asp)
c.2793G>T (p.Glu931Asp)
c.3237G>T (p.Glu1079Asp)
 dbSNP gnomAD v4
9g.135786323C>ACA375491687KCNT1c.3304C>A (p.His1102Asn)
c.3145C>A (p.His1049Asn)
c.3052C>A (p.His1018Asn)
c.3061C>A (p.His1021Asn)
c.3205C>A (p.His1069Asn)
c.*2914C>A (n.*2914C>A)
c.3187C>A (p.His1063Asn)
c.3226C>A (p.His1076Asn)
c.3241C>A (p.His1081Asn)
n.3989C>A
c.3247C>A (p.His1083Asn)
c.3169C>A (p.His1057Asn)
c.3139C>A (p.His1047Asn)
c.3439C>A (p.His1147Asn)
c.3448C>A (p.His1150Asn)
c.2794C>A (p.His932Asn)
c.3238C>A (p.His1080Asn)
 gnomAD v4
9g.135786323C>GCA375491688KCNT1c.3304C>G (p.His1102Asp)
c.3145C>G (p.His1049Asp)
c.3052C>G (p.His1018Asp)
c.3061C>G (p.His1021Asp)
c.3205C>G (p.His1069Asp)
c.*2914C>G (n.*2914C>G)
c.3187C>G (p.His1063Asp)
c.3226C>G (p.His1076Asp)
c.3241C>G (p.His1081Asp)
n.3989C>G
c.3247C>G (p.His1083Asp)
c.3169C>G (p.His1057Asp)
c.3139C>G (p.His1047Asp)
c.3439C>G (p.His1147Asp)
c.3448C>G (p.His1150Asp)
c.2794C>G (p.His932Asp)
c.3238C>G (p.His1080Asp)
9g.135786323C>TCA375491689KCNT1c.3304C>T (p.His1102Tyr)
c.3145C>T (p.His1049Tyr)
c.3052C>T (p.His1018Tyr)
c.3061C>T (p.His1021Tyr)
c.3205C>T (p.His1069Tyr)
c.*2914C>T (n.*2914C>T)
c.3187C>T (p.His1063Tyr)
c.3226C>T (p.His1076Tyr)
c.3241C>T (p.His1081Tyr)
n.3989C>T
c.3247C>T (p.His1083Tyr)
c.3169C>T (p.His1057Tyr)
c.3139C>T (p.His1047Tyr)
c.3439C>T (p.His1147Tyr)
c.3448C>T (p.His1150Tyr)
c.2794C>T (p.His932Tyr)
c.3238C>T (p.His1080Tyr)
 gnomAD v4
9g.135786324A>CCA375491692KCNT1c.3305A>C (p.His1102Pro)
c.3146A>C (p.His1049Pro)
c.3053A>C (p.His1018Pro)
c.3062A>C (p.His1021Pro)
c.3206A>C (p.His1069Pro)
c.*2915A>C (n.*2915A>C)
c.3188A>C (p.His1063Pro)
c.3227A>C (p.His1076Pro)
c.3242A>C (p.His1081Pro)
n.3990A>C
c.3248A>C (p.His1083Pro)
c.3170A>C (p.His1057Pro)
c.3140A>C (p.His1047Pro)
c.3440A>C (p.His1147Pro)
c.3449A>C (p.His1150Pro)
c.2795A>C (p.His932Pro)
c.3239A>C (p.His1080Pro)
9g.135786324A>GCA375491690KCNT1c.3305A>G (p.His1102Arg)
c.3146A>G (p.His1049Arg)
c.3053A>G (p.His1018Arg)
c.3062A>G (p.His1021Arg)
c.3206A>G (p.His1069Arg)
c.*2915A>G (n.*2915A>G)
c.3188A>G (p.His1063Arg)
c.3227A>G (p.His1076Arg)
c.3242A>G (p.His1081Arg)
n.3990A>G
c.3248A>G (p.His1083Arg)
c.3170A>G (p.His1057Arg)
c.3140A>G (p.His1047Arg)
c.3440A>G (p.His1147Arg)
c.3449A>G (p.His1150Arg)
c.2795A>G (p.His932Arg)
c.3239A>G (p.His1080Arg)
9g.135786324A>TCA375491691KCNT1c.3305A>T (p.His1102Leu)
c.3146A>T (p.His1049Leu)
c.3053A>T (p.His1018Leu)
c.3062A>T (p.His1021Leu)
c.3206A>T (p.His1069Leu)
c.*2915A>T (n.*2915A>T)
c.3188A>T (p.His1063Leu)
c.3227A>T (p.His1076Leu)
c.3242A>T (p.His1081Leu)
n.3990A>T
c.3248A>T (p.His1083Leu)
c.3170A>T (p.His1057Leu)
c.3140A>T (p.His1047Leu)
c.3440A>T (p.His1147Leu)
c.3449A>T (p.His1150Leu)
c.2795A>T (p.His932Leu)
c.3239A>T (p.His1080Leu)
9g.135786325C>ACA375491693KCNT1c.3306C>A (p.His1102Gln)
c.3147C>A (p.His1049Gln)
c.3054C>A (p.His1018Gln)
c.3063C>A (p.His1021Gln)
c.3207C>A (p.His1069Gln)
c.*2916C>A (n.*2916C>A)
c.3189C>A (p.His1063Gln)
c.3228C>A (p.His1076Gln)
c.3243C>A (p.His1081Gln)
n.3991C>A
c.3249C>A (p.His1083Gln)
c.3171C>A (p.His1057Gln)
c.3141C>A (p.His1047Gln)
c.3441C>A (p.His1147Gln)
c.3450C>A (p.His1150Gln)
c.2796C>A (p.His932Gln)
c.3240C>A (p.His1080Gln)
 ClinVar
9g.135786325C>GCA375491694KCNT1c.3306C>G (p.His1102Gln)
c.3147C>G (p.His1049Gln)
c.3054C>G (p.His1018Gln)
c.3063C>G (p.His1021Gln)
c.3207C>G (p.His1069Gln)
c.*2916C>G (n.*2916C>G)
c.3189C>G (p.His1063Gln)
c.3228C>G (p.His1076Gln)
c.3243C>G (p.His1081Gln)
n.3991C>G
c.3249C>G (p.His1083Gln)
c.3171C>G (p.His1057Gln)
c.3141C>G (p.His1047Gln)
c.3441C>G (p.His1147Gln)
c.3450C>G (p.His1150Gln)
c.2796C>G (p.His932Gln)
c.3240C>G (p.His1080Gln)
9g.135786325C>TCA467821221KCNT1c.3306C>T (p.His1102=)
c.3147C>T (p.His1049=)
c.3054C>T (p.His1018=)
c.3063C>T (p.His1021=)
c.3207C>T (p.His1069=)
c.*2916C>T (n.*2916C>T)
c.3189C>T (p.His1063=)
c.3228C>T (p.His1076=)
c.3243C>T (p.His1081=)
n.3991C>T
c.3249C>T (p.His1083=)
c.3171C>T (p.His1057=)
c.3141C>T (p.His1047=)
c.3441C>T (p.His1147=)
c.3450C>T (p.His1150=)
c.2796C>T (p.His932=)
c.3240C>T (p.His1080=)
 dbSNP gnomAD v3
9g.135786326C>ACA375491695KCNT1c.3307C>A (p.Pro1103Thr)
c.3148C>A (p.Pro1050Thr)
c.3055C>A (p.Pro1019Thr)
c.3064C>A (p.Pro1022Thr)
c.3208C>A (p.Pro1070Thr)
c.*2917C>A (n.*2917C>A)
c.3190C>A (p.Pro1064Thr)
c.3229C>A (p.Pro1077Thr)
c.3244C>A (p.Pro1082Thr)
n.3992C>A
c.3250C>A (p.Pro1084Thr)
c.3172C>A (p.Pro1058Thr)
c.3142C>A (p.Pro1048Thr)
c.3442C>A (p.Pro1148Thr)
c.3451C>A (p.Pro1151Thr)
c.2797C>A (p.Pro933Thr)
c.3241C>A (p.Pro1081Thr)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.135786326C=CA1883887935KCNT1c.3307C= (p.Pro1103=)
c.3148C= (p.Pro1050=)
c.3055C= (p.Pro1019=)
c.3064C= (p.Pro1022=)
c.3208C= (p.Pro1070=)
c.*2917C= (n.*2917C=)
c.3190C= (p.Pro1064=)
c.3229C= (p.Pro1077=)
c.3244C= (p.Pro1082=)
n.3992C=
c.3250C= (p.Pro1084=)
c.3172C= (p.Pro1058=)
c.3142C= (p.Pro1048=)
c.3442C= (p.Pro1148=)
c.3451C= (p.Pro1151=)
c.2797C= (p.Pro933=)
c.3241C= (p.Pro1081=)
9g.135786326C>GCA375491696KCNT1c.3307C>G (p.Pro1103Ala)
c.3148C>G (p.Pro1050Ala)
c.3055C>G (p.Pro1019Ala)
c.3064C>G (p.Pro1022Ala)
c.3208C>G (p.Pro1070Ala)
c.*2917C>G (n.*2917C>G)
c.3190C>G (p.Pro1064Ala)
c.3229C>G (p.Pro1077Ala)
c.3244C>G (p.Pro1082Ala)
n.3992C>G
c.3250C>G (p.Pro1084Ala)
c.3172C>G (p.Pro1058Ala)
c.3142C>G (p.Pro1048Ala)
c.3442C>G (p.Pro1148Ala)
c.3451C>G (p.Pro1151Ala)
c.2797C>G (p.Pro933Ala)
c.3241C>G (p.Pro1081Ala)
9g.135786326C>TCA375491697KCNT1c.3307C>T (p.Pro1103Ser)
c.3148C>T (p.Pro1050Ser)
c.3055C>T (p.Pro1019Ser)
c.3064C>T (p.Pro1022Ser)
c.3208C>T (p.Pro1070Ser)
c.*2917C>T (n.*2917C>T)
c.3190C>T (p.Pro1064Ser)
c.3229C>T (p.Pro1077Ser)
c.3244C>T (p.Pro1082Ser)
n.3992C>T
c.3250C>T (p.Pro1084Ser)
c.3172C>T (p.Pro1058Ser)
c.3142C>T (p.Pro1048Ser)
c.3442C>T (p.Pro1148Ser)
c.3451C>T (p.Pro1151Ser)
c.2797C>T (p.Pro933Ser)
c.3241C>T (p.Pro1081Ser)
9g.135786327C>ACA375491698KCNT1c.3308C>A (p.Pro1103Gln)
c.3149C>A (p.Pro1050Gln)
c.3056C>A (p.Pro1019Gln)
c.3065C>A (p.Pro1022Gln)
c.3209C>A (p.Pro1070Gln)
c.*2918C>A (n.*2918C>A)
c.3191C>A (p.Pro1064Gln)
c.3230C>A (p.Pro1077Gln)
c.3245C>A (p.Pro1082Gln)
n.3993C>A
c.3251C>A (p.Pro1084Gln)
c.3173C>A (p.Pro1058Gln)
c.3143C>A (p.Pro1048Gln)
c.3443C>A (p.Pro1148Gln)
c.3452C>A (p.Pro1151Gln)
c.2798C>A (p.Pro933Gln)
c.3242C>A (p.Pro1081Gln)
9g.135786327C>GCA375491699KCNT1c.3308C>G (p.Pro1103Arg)
c.3149C>G (p.Pro1050Arg)
c.3056C>G (p.Pro1019Arg)
c.3065C>G (p.Pro1022Arg)
c.3209C>G (p.Pro1070Arg)
c.*2918C>G (n.*2918C>G)
c.3191C>G (p.Pro1064Arg)
c.3230C>G (p.Pro1077Arg)
c.3245C>G (p.Pro1082Arg)
n.3993C>G
c.3251C>G (p.Pro1084Arg)
c.3173C>G (p.Pro1058Arg)
c.3143C>G (p.Pro1048Arg)
c.3443C>G (p.Pro1148Arg)
c.3452C>G (p.Pro1151Arg)
c.2798C>G (p.Pro933Arg)
c.3242C>G (p.Pro1081Arg)
9g.135786327C>TCA375491700KCNT1c.3308C>T (p.Pro1103Leu)
c.3149C>T (p.Pro1050Leu)
c.3056C>T (p.Pro1019Leu)
c.3065C>T (p.Pro1022Leu)
c.3209C>T (p.Pro1070Leu)
c.*2918C>T (n.*2918C>T)
c.3191C>T (p.Pro1064Leu)
c.3230C>T (p.Pro1077Leu)
c.3245C>T (p.Pro1082Leu)
n.3993C>T
c.3251C>T (p.Pro1084Leu)
c.3173C>T (p.Pro1058Leu)
c.3143C>T (p.Pro1048Leu)
c.3443C>T (p.Pro1148Leu)
c.3452C>T (p.Pro1151Leu)
c.2798C>T (p.Pro933Leu)
c.3242C>T (p.Pro1081Leu)
 gnomAD v4
9g.135786328A>CCA467821224KCNT1c.3309A>C (p.Pro1103=)
c.3150A>C (p.Pro1050=)
c.3057A>C (p.Pro1019=)
c.3066A>C (p.Pro1022=)
c.3210A>C (p.Pro1070=)
c.*2919A>C (n.*2919A>C)
c.3192A>C (p.Pro1064=)
c.3231A>C (p.Pro1077=)
c.3246A>C (p.Pro1082=)
n.3994A>C
c.3252A>C (p.Pro1084=)
c.3174A>C (p.Pro1058=)
c.3144A>C (p.Pro1048=)
c.3444A>C (p.Pro1148=)
c.3453A>C (p.Pro1151=)
c.2799A>C (p.Pro933=)
c.3243A>C (p.Pro1081=)
9g.135786328A>GCA467821223KCNT1c.3309A>G (p.Pro1103=)
c.3150A>G (p.Pro1050=)
c.3057A>G (p.Pro1019=)
c.3066A>G (p.Pro1022=)
c.3210A>G (p.Pro1070=)
c.*2919A>G (n.*2919A>G)
c.3192A>G (p.Pro1064=)
c.3231A>G (p.Pro1077=)
c.3246A>G (p.Pro1082=)
n.3994A>G
c.3252A>G (p.Pro1084=)
c.3174A>G (p.Pro1058=)
c.3144A>G (p.Pro1048=)
c.3444A>G (p.Pro1148=)
c.3453A>G (p.Pro1151=)
c.2799A>G (p.Pro933=)
c.3243A>G (p.Pro1081=)
 gnomAD v4
9g.135786328A>TCA467821222KCNT1c.3309A>T (p.Pro1103=)
c.3150A>T (p.Pro1050=)
c.3057A>T (p.Pro1019=)
c.3066A>T (p.Pro1022=)
c.3210A>T (p.Pro1070=)
c.*2919A>T (n.*2919A>T)
c.3192A>T (p.Pro1064=)
c.3231A>T (p.Pro1077=)
c.3246A>T (p.Pro1082=)
n.3994A>T
c.3252A>T (p.Pro1084=)
c.3174A>T (p.Pro1058=)
c.3144A>T (p.Pro1048=)
c.3444A>T (p.Pro1148=)
c.3453A>T (p.Pro1151=)
c.2799A>T (p.Pro933=)
c.3243A>T (p.Pro1081=)
9g.135786329C>ACA375491701KCNT1c.3310C>A (p.Leu1104Met)
c.3151C>A (p.Leu1051Met)
c.3058C>A (p.Leu1020Met)
c.3067C>A (p.Leu1023Met)
c.3211C>A (p.Leu1071Met)
c.*2920C>A (n.*2920C>A)
c.3193C>A (p.Leu1065Met)
c.3232C>A (p.Leu1078Met)
c.3247C>A (p.Leu1083Met)
n.3995C>A
c.3253C>A (p.Leu1085Met)
c.3175C>A (p.Leu1059Met)
c.3145C>A (p.Leu1049Met)
c.3445C>A (p.Leu1149Met)
c.3454C>A (p.Leu1152Met)
c.2800C>A (p.Leu934Met)
c.3244C>A (p.Leu1082Met)
 dbSNP
9g.135786329C=CA1883887960KCNT1c.3310C= (p.Leu1104=)
c.3151C= (p.Leu1051=)
c.3058C= (p.Leu1020=)
c.3067C= (p.Leu1023=)
c.3211C= (p.Leu1071=)
c.*2920C= (n.*2920C=)
c.3193C= (p.Leu1065=)
c.3232C= (p.Leu1078=)
c.3247C= (p.Leu1083=)
n.3995C=
c.3253C= (p.Leu1085=)
c.3175C= (p.Leu1059=)
c.3145C= (p.Leu1049=)
c.3445C= (p.Leu1149=)
c.3454C= (p.Leu1152=)
c.2800C= (p.Leu934=)
c.3244C= (p.Leu1082=)
9g.135786329C>GCA201424048KCNT1c.3310C>G (p.Leu1104Val)
c.3151C>G (p.Leu1051Val)
c.3058C>G (p.Leu1020Val)
c.3067C>G (p.Leu1023Val)
c.3211C>G (p.Leu1071Val)
c.*2920C>G (n.*2920C>G)
c.3193C>G (p.Leu1065Val)
c.3232C>G (p.Leu1078Val)
c.3247C>G (p.Leu1083Val)
n.3995C>G
c.3253C>G (p.Leu1085Val)
c.3175C>G (p.Leu1059Val)
c.3145C>G (p.Leu1049Val)
c.3445C>G (p.Leu1149Val)
c.3454C>G (p.Leu1152Val)
c.2800C>G (p.Leu934Val)
c.3244C>G (p.Leu1082Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135786329C>TCA467821225KCNT1c.3310C>T (p.Leu1104=)
c.3151C>T (p.Leu1051=)
c.3058C>T (p.Leu1020=)
c.3067C>T (p.Leu1023=)
c.3211C>T (p.Leu1071=)
c.*2920C>T (n.*2920C>T)
c.3193C>T (p.Leu1065=)
c.3232C>T (p.Leu1078=)
c.3247C>T (p.Leu1083=)
n.3995C>T
c.3253C>T (p.Leu1085=)
c.3175C>T (p.Leu1059=)
c.3145C>T (p.Leu1049=)
c.3445C>T (p.Leu1149=)
c.3454C>T (p.Leu1152=)
c.2800C>T (p.Leu934=)
c.3244C>T (p.Leu1082=)
 gnomAD v4
9g.135786330T>ACA375491703KCNT1c.3311T>A (p.Leu1104Gln)
c.3152T>A (p.Leu1051Gln)
c.3059T>A (p.Leu1020Gln)
c.3068T>A (p.Leu1023Gln)
c.3212T>A (p.Leu1071Gln)
c.*2921T>A (n.*2921T>A)
c.3194T>A (p.Leu1065Gln)
c.3233T>A (p.Leu1078Gln)
c.3248T>A (p.Leu1083Gln)
n.3996T>A
c.3254T>A (p.Leu1085Gln)
c.3176T>A (p.Leu1059Gln)
c.3146T>A (p.Leu1049Gln)
c.3446T>A (p.Leu1149Gln)
c.3455T>A (p.Leu1152Gln)
c.2801T>A (p.Leu934Gln)
c.3245T>A (p.Leu1082Gln)
 gnomAD v4
9g.135786330T>CCA375491704KCNT1c.3311T>C (p.Leu1104Pro)
c.3152T>C (p.Leu1051Pro)
c.3059T>C (p.Leu1020Pro)
c.3068T>C (p.Leu1023Pro)
c.3212T>C (p.Leu1071Pro)
c.*2921T>C (n.*2921T>C)
c.3194T>C (p.Leu1065Pro)
c.3233T>C (p.Leu1078Pro)
c.3248T>C (p.Leu1083Pro)
n.3996T>C
c.3254T>C (p.Leu1085Pro)
c.3176T>C (p.Leu1059Pro)
c.3146T>C (p.Leu1049Pro)
c.3446T>C (p.Leu1149Pro)
c.3455T>C (p.Leu1152Pro)
c.2801T>C (p.Leu934Pro)
c.3245T>C (p.Leu1082Pro)
9g.135786330T>GCA375491702KCNT1c.3311T>G (p.Leu1104Arg)
c.3152T>G (p.Leu1051Arg)
c.3059T>G (p.Leu1020Arg)
c.3068T>G (p.Leu1023Arg)
c.3212T>G (p.Leu1071Arg)
c.*2921T>G (n.*2921T>G)
c.3194T>G (p.Leu1065Arg)
c.3233T>G (p.Leu1078Arg)
c.3248T>G (p.Leu1083Arg)
n.3996T>G
c.3254T>G (p.Leu1085Arg)
c.3176T>G (p.Leu1059Arg)
c.3146T>G (p.Leu1049Arg)
c.3446T>G (p.Leu1149Arg)
c.3455T>G (p.Leu1152Arg)
c.2801T>G (p.Leu934Arg)
c.3245T>G (p.Leu1082Arg)
9g.135786330dupCA591364973KCNT1c.3311dup (p.Leu1105AlafsTer?)
c.3152dup (p.Leu1052AlafsTer?)
c.3059dup (p.Leu1021AlafsTer?)
c.3068dup (p.Leu1024AlafsTer?)
c.3212dup (p.Leu1072AlafsTer?)
c.*2921dup (n.*2921dup)
c.3194dup (p.Leu1066AlafsTer?)
c.3233dup (p.Leu1079AlafsTer?)
c.3248dup (p.Leu1084AlafsTer?)
n.3996dup
c.3254dup (p.Leu1086AlafsTer?)
c.3176dup (p.Leu1060AlafsTer?)
c.3146dup (p.Leu1050AlafsTer?)
c.3446dup (p.Leu1150AlafsTer?)
c.3455dup (p.Leu1153AlafsTer?)
c.2801dup (p.Leu935AlafsTer?)
c.3245dup (p.Leu1083AlafsTer?)
 dbSNP gnomAD v2 gnomAD v4
9g.135786331G>ACA153314KCNT1c.3312G>A (p.Leu1104=)
c.3153G>A (p.Leu1051=)
c.3060G>A (p.Leu1020=)
c.3069G>A (p.Leu1023=)
c.3213G>A (p.Leu1071=)
c.*2922G>A (n.*2922G>A)
c.3195G>A (p.Leu1065=)
c.3234G>A (p.Leu1078=)
c.3249G>A (p.Leu1083=)
n.3997G>A
c.3255G>A (p.Leu1085=)
c.3177G>A (p.Leu1059=)
c.3147G>A (p.Leu1049=)
c.3447G>A (p.Leu1149=)
c.3456G>A (p.Leu1152=)
c.2802G>A (p.Leu934=)
c.3246G>A (p.Leu1082=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786331G>CCA467821227KCNT1c.3312G>C (p.Leu1104=)
c.3153G>C (p.Leu1051=)
c.3060G>C (p.Leu1020=)
c.3069G>C (p.Leu1023=)
c.3213G>C (p.Leu1071=)
c.*2922G>C (n.*2922G>C)
c.3195G>C (p.Leu1065=)
c.3234G>C (p.Leu1078=)
c.3249G>C (p.Leu1083=)
n.3997G>C
c.3255G>C (p.Leu1085=)
c.3177G>C (p.Leu1059=)
c.3147G>C (p.Leu1049=)
c.3447G>C (p.Leu1149=)
c.3456G>C (p.Leu1152=)
c.2802G>C (p.Leu934=)
c.3246G>C (p.Leu1082=)
9g.135786331G=CA1883887971KCNT1c.3312G= (p.Leu1104=)
c.3153G= (p.Leu1051=)
c.3060G= (p.Leu1020=)
c.3069G= (p.Leu1023=)
c.3213G= (p.Leu1071=)
c.*2922G= (n.*2922G=)
c.3195G= (p.Leu1065=)
c.3234G= (p.Leu1078=)
c.3249G= (p.Leu1083=)
n.3997G=
c.3255G= (p.Leu1085=)
c.3177G= (p.Leu1059=)
c.3147G= (p.Leu1049=)
c.3447G= (p.Leu1149=)
c.3456G= (p.Leu1152=)
c.2802G= (p.Leu934=)
c.3246G= (p.Leu1082=)
9g.135786331G>TCA467821226KCNT1c.3312G>T (p.Leu1104=)
c.3153G>T (p.Leu1051=)
c.3060G>T (p.Leu1020=)
c.3069G>T (p.Leu1023=)
c.3213G>T (p.Leu1071=)
c.*2922G>T (n.*2922G>T)
c.3195G>T (p.Leu1065=)
c.3234G>T (p.Leu1078=)
c.3249G>T (p.Leu1083=)
n.3997G>T
c.3255G>T (p.Leu1085=)
c.3177G>T (p.Leu1059=)
c.3147G>T (p.Leu1049=)
c.3447G>T (p.Leu1149=)
c.3456G>T (p.Leu1152=)
c.2802G>T (p.Leu934=)
c.3246G>T (p.Leu1082=)
 gnomAD v4
9g.135786333_135786340delCA2692525543KCNT1c.3314_3321del (p.Leu1105GlnfsTer?)
c.3155_3162del (p.Leu1052GlnfsTer?)
c.3062_3069del (p.Leu1021GlnfsTer?)
c.3071_3078del (p.Leu1024GlnfsTer?)
c.3215_3222del (p.Leu1072GlnfsTer?)
c.*2924_*2931del (n.*2924_*2931del)
c.3197_3204del (p.Leu1066GlnfsTer?)
c.3236_3243del (p.Leu1079GlnfsTer?)
c.3251_3258del (p.Leu1084GlnfsTer?)
n.3999_4006del
c.3257_3264del (p.Leu1086GlnfsTer?)
c.3179_3186del (p.Leu1060GlnfsTer?)
c.3149_3156del (p.Leu1050GlnfsTer?)
c.3449_3456del (p.Leu1150GlnfsTer?)
c.3458_3465del (p.Leu1153GlnfsTer?)
c.2804_2811del (p.Leu935GlnfsTer?)
c.3248_3255del (p.Leu1083GlnfsTer?)
 gnomAD v4
9g.135786332C>ACA375491705KCNT1c.3313C>A (p.Leu1105Ile)
c.3154C>A (p.Leu1052Ile)
c.3061C>A (p.Leu1021Ile)
c.3070C>A (p.Leu1024Ile)
c.3214C>A (p.Leu1072Ile)
c.*2923C>A (n.*2923C>A)
c.3196C>A (p.Leu1066Ile)
c.3235C>A (p.Leu1079Ile)
c.3250C>A (p.Leu1084Ile)
n.3998C>A
c.3256C>A (p.Leu1086Ile)
c.3178C>A (p.Leu1060Ile)
c.3148C>A (p.Leu1050Ile)
c.3448C>A (p.Leu1150Ile)
c.3457C>A (p.Leu1153Ile)
c.2803C>A (p.Leu935Ile)
c.3247C>A (p.Leu1083Ile)
 gnomAD v4
9g.135786332C>GCA375491706KCNT1c.3313C>G (p.Leu1105Val)
c.3154C>G (p.Leu1052Val)
c.3061C>G (p.Leu1021Val)
c.3070C>G (p.Leu1024Val)
c.3214C>G (p.Leu1072Val)
c.*2923C>G (n.*2923C>G)
c.3196C>G (p.Leu1066Val)
c.3235C>G (p.Leu1079Val)
c.3250C>G (p.Leu1084Val)
n.3998C>G
c.3256C>G (p.Leu1086Val)
c.3178C>G (p.Leu1060Val)
c.3148C>G (p.Leu1050Val)
c.3448C>G (p.Leu1150Val)
c.3457C>G (p.Leu1153Val)
c.2803C>G (p.Leu935Val)
c.3247C>G (p.Leu1083Val)
9g.135786332C>TCA467821228KCNT1c.3313C>T (p.Leu1105=)
c.3154C>T (p.Leu1052=)
c.3061C>T (p.Leu1021=)
c.3070C>T (p.Leu1024=)
c.3214C>T (p.Leu1072=)
c.*2923C>T (n.*2923C>T)
c.3196C>T (p.Leu1066=)
c.3235C>T (p.Leu1079=)
c.3250C>T (p.Leu1084=)
n.3998C>T
c.3256C>T (p.Leu1086=)
c.3178C>T (p.Leu1060=)
c.3148C>T (p.Leu1050=)
c.3448C>T (p.Leu1150=)
c.3457C>T (p.Leu1153=)
c.2803C>T (p.Leu935=)
c.3247C>T (p.Leu1083=)
9g.135786333T>ACA375491707KCNT1c.3314T>A (p.Leu1105Gln)
c.3155T>A (p.Leu1052Gln)
c.3062T>A (p.Leu1021Gln)
c.3071T>A (p.Leu1024Gln)
c.3215T>A (p.Leu1072Gln)
c.*2924T>A (n.*2924T>A)
c.3197T>A (p.Leu1066Gln)
c.3236T>A (p.Leu1079Gln)
c.3251T>A (p.Leu1084Gln)
n.3999T>A
c.3257T>A (p.Leu1086Gln)
c.3179T>A (p.Leu1060Gln)
c.3149T>A (p.Leu1050Gln)
c.3449T>A (p.Leu1150Gln)
c.3458T>A (p.Leu1153Gln)
c.2804T>A (p.Leu935Gln)
c.3248T>A (p.Leu1083Gln)
9g.135786333T>CCA375491708KCNT1c.3314T>C (p.Leu1105Pro)
c.3155T>C (p.Leu1052Pro)
c.3062T>C (p.Leu1021Pro)
c.3071T>C (p.Leu1024Pro)
c.3215T>C (p.Leu1072Pro)
c.*2924T>C (n.*2924T>C)
c.3197T>C (p.Leu1066Pro)
c.3236T>C (p.Leu1079Pro)
c.3251T>C (p.Leu1084Pro)
n.3999T>C
c.3257T>C (p.Leu1086Pro)
c.3179T>C (p.Leu1060Pro)
c.3149T>C (p.Leu1050Pro)
c.3449T>C (p.Leu1150Pro)
c.3458T>C (p.Leu1153Pro)
c.2804T>C (p.Leu935Pro)
c.3248T>C (p.Leu1083Pro)
9g.135786333T>GCA375491709KCNT1c.3314T>G (p.Leu1105Arg)
c.3155T>G (p.Leu1052Arg)
c.3062T>G (p.Leu1021Arg)
c.3071T>G (p.Leu1024Arg)
c.3215T>G (p.Leu1072Arg)
c.*2924T>G (n.*2924T>G)
c.3197T>G (p.Leu1066Arg)
c.3236T>G (p.Leu1079Arg)
c.3251T>G (p.Leu1084Arg)
n.3999T>G
c.3257T>G (p.Leu1086Arg)
c.3179T>G (p.Leu1060Arg)
c.3149T>G (p.Leu1050Arg)
c.3449T>G (p.Leu1150Arg)
c.3458T>G (p.Leu1153Arg)
c.2804T>G (p.Leu935Arg)
c.3248T>G (p.Leu1083Arg)
9g.135786334delCA2692525547KCNT1c.3315del (p.Arg1106GlyfsTer11)
c.3156del (p.Arg1053GlyfsTer11)
c.3063del (p.Arg1022GlyfsTer11)
c.3072del (p.Arg1025GlyfsTer11)
c.3216del (p.Arg1073GlyfsTer11)
c.*2925del (n.*2925del)
c.3198del (p.Arg1067GlyfsTer11)
c.3237del (p.Arg1080GlyfsTer11)
c.3252del (p.Arg1085GlyfsTer11)
n.4000del
c.3258del (p.Arg1087GlyfsTer11)
c.3180del (p.Arg1061GlyfsTer11)
c.3150del (p.Arg1051GlyfsTer11)
c.3450del (p.Arg1151GlyfsTer11)
c.3459del (p.Arg1154GlyfsTer11)
c.2805del (p.Arg936GlyfsTer11)
c.3249del (p.Arg1084GlyfsTer11)
 gnomAD v4
9g.135786334A>CCA467821229KCNT1c.3315A>C (p.Leu1105=)
c.3156A>C (p.Leu1052=)
c.3063A>C (p.Leu1021=)
c.3072A>C (p.Leu1024=)
c.3216A>C (p.Leu1072=)
c.*2925A>C (n.*2925A>C)
c.3198A>C (p.Leu1066=)
c.3237A>C (p.Leu1079=)
c.3252A>C (p.Leu1084=)
n.4000A>C
c.3258A>C (p.Leu1086=)
c.3180A>C (p.Leu1060=)
c.3150A>C (p.Leu1050=)
c.3450A>C (p.Leu1150=)
c.3459A>C (p.Leu1153=)
c.2805A>C (p.Leu935=)
c.3249A>C (p.Leu1083=)
9g.135786334A>GCA467821230KCNT1c.3315A>G (p.Leu1105=)
c.3156A>G (p.Leu1052=)
c.3063A>G (p.Leu1021=)
c.3072A>G (p.Leu1024=)
c.3216A>G (p.Leu1072=)
c.*2925A>G (n.*2925A>G)
c.3198A>G (p.Leu1066=)
c.3237A>G (p.Leu1079=)
c.3252A>G (p.Leu1084=)
n.4000A>G
c.3258A>G (p.Leu1086=)
c.3180A>G (p.Leu1060=)
c.3150A>G (p.Leu1050=)
c.3450A>G (p.Leu1150=)
c.3459A>G (p.Leu1153=)
c.2805A>G (p.Leu935=)
c.3249A>G (p.Leu1083=)
 gnomAD v4
9g.135786334A>TCA467821231KCNT1c.3315A>T (p.Leu1105=)
c.3156A>T (p.Leu1052=)
c.3063A>T (p.Leu1021=)
c.3072A>T (p.Leu1024=)
c.3216A>T (p.Leu1072=)
c.*2925A>T (n.*2925A>T)
c.3198A>T (p.Leu1066=)
c.3237A>T (p.Leu1079=)
c.3252A>T (p.Leu1084=)
n.4000A>T
c.3258A>T (p.Leu1086=)
c.3180A>T (p.Leu1060=)
c.3150A>T (p.Leu1050=)
c.3450A>T (p.Leu1150=)
c.3459A>T (p.Leu1153=)
c.2805A>T (p.Leu935=)
c.3249A>T (p.Leu1083=)
9g.135786335C>ACA16606431KCNT1c.3316C>A (p.Arg1106=)
c.3157C>A (p.Arg1053=)
c.3064C>A (p.Arg1022=)
c.3073C>A (p.Arg1025=)
c.3217C>A (p.Arg1073=)
c.*2926C>A (n.*2926C>A)
c.3199C>A (p.Arg1067=)
c.3238C>A (p.Arg1080=)
c.3253C>A (p.Arg1085=)
n.4001C>A
c.3259C>A (p.Arg1087=)
c.3181C>A (p.Arg1061=)
c.3151C>A (p.Arg1051=)
c.3451C>A (p.Arg1151=)
c.3460C>A (p.Arg1154=)
c.2806C>A (p.Arg936=)
c.3250C>A (p.Arg1084=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.135786335C=CA1883887985KCNT1c.3316C= (p.Arg1106=)
c.3157C= (p.Arg1053=)
c.3064C= (p.Arg1022=)
c.3073C= (p.Arg1025=)
c.3217C= (p.Arg1073=)
c.*2926C= (n.*2926C=)
c.3199C= (p.Arg1067=)
c.3238C= (p.Arg1080=)
c.3253C= (p.Arg1085=)
n.4001C=
c.3259C= (p.Arg1087=)
c.3181C= (p.Arg1061=)
c.3151C= (p.Arg1051=)
c.3451C= (p.Arg1151=)
c.3460C= (p.Arg1154=)
c.2806C= (p.Arg936=)
c.3250C= (p.Arg1084=)
9g.135786335C>GCA5327778KCNT1c.3316C>G (p.Arg1106Gly)
c.3157C>G (p.Arg1053Gly)
c.3064C>G (p.Arg1022Gly)
c.3073C>G (p.Arg1025Gly)
c.3217C>G (p.Arg1073Gly)
c.*2926C>G (n.*2926C>G)
c.3199C>G (p.Arg1067Gly)
c.3238C>G (p.Arg1080Gly)
c.3253C>G (p.Arg1085Gly)
n.4001C>G
c.3259C>G (p.Arg1087Gly)
c.3181C>G (p.Arg1061Gly)
c.3151C>G (p.Arg1051Gly)
c.3451C>G (p.Arg1151Gly)
c.3460C>G (p.Arg1154Gly)
c.2806C>G (p.Arg936Gly)
c.3250C>G (p.Arg1084Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135786335C>TCA5327777KCNT1c.3316C>T (p.Arg1106Trp)
c.3157C>T (p.Arg1053Trp)
c.3064C>T (p.Arg1022Trp)
c.3073C>T (p.Arg1025Trp)
c.3217C>T (p.Arg1073Trp)
c.*2926C>T (n.*2926C>T)
c.3199C>T (p.Arg1067Trp)
c.3238C>T (p.Arg1080Trp)
c.3253C>T (p.Arg1085Trp)
n.4001C>T
c.3259C>T (p.Arg1087Trp)
c.3181C>T (p.Arg1061Trp)
c.3151C>T (p.Arg1051Trp)
c.3451C>T (p.Arg1151Trp)
c.3460C>T (p.Arg1154Trp)
c.2806C>T (p.Arg936Trp)
c.3250C>T (p.Arg1084Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786337_135786339dupCA2580080086KCNT1c.3318_3320dup (p.Arg1107_Lys1108insArg)
c.3159_3161dup (p.Arg1054_Lys1055insArg)
c.3066_3068dup (p.Arg1023_Lys1024insArg)
c.3075_3077dup (p.Arg1026_Lys1027insArg)
c.3219_3221dup (p.Arg1074_Lys1075insArg)
c.*2928_*2930dup (n.*2928_*2930dup)
c.3201_3203dup (p.Arg1068_Lys1069insArg)
c.3240_3242dup (p.Arg1081_Lys1082insArg)
c.3255_3257dup (p.Arg1086_Lys1087insArg)
n.4003_4005dup
c.3261_3263dup (p.Arg1088_Lys1089insArg)
c.3183_3185dup (p.Arg1062_Lys1063insArg)
c.3153_3155dup (p.Arg1052_Lys1053insArg)
c.3453_3455dup (p.Arg1152_Lys1153insArg)
c.3462_3464dup (p.Arg1155_Lys1156insArg)
c.2808_2810dup (p.Arg937_Lys938insArg)
c.3252_3254dup (p.Arg1085_Lys1086insArg)
 ClinVar
9g.135786337_135786339delCA2692525554KCNT1c.3318_3320del (p.Arg1107del)
c.3159_3161del (p.Arg1054del)
c.3066_3068del (p.Arg1023del)
c.3075_3077del (p.Arg1026del)
c.3219_3221del (p.Arg1074del)
c.*2928_*2930del (n.*2928_*2930del)
c.3201_3203del (p.Arg1068del)
c.3240_3242del (p.Arg1081del)
c.3255_3257del (p.Arg1086del)
n.4003_4005del
c.3261_3263del (p.Arg1088del)
c.3183_3185del (p.Arg1062del)
c.3153_3155del (p.Arg1052del)
c.3453_3455del (p.Arg1152del)
c.3462_3464del (p.Arg1155del)
c.2808_2810del (p.Arg937del)
c.3252_3254del (p.Arg1085del)
 gnomAD v4
9g.135786336G>ACA5327779KCNT1c.3317G>A (p.Arg1106Gln)
c.3158G>A (p.Arg1053Gln)
c.3065G>A (p.Arg1022Gln)
c.3074G>A (p.Arg1025Gln)
c.3218G>A (p.Arg1073Gln)
c.*2927G>A (n.*2927G>A)
c.3200G>A (p.Arg1067Gln)
c.3239G>A (p.Arg1080Gln)
c.3254G>A (p.Arg1085Gln)
n.4002G>A
c.3260G>A (p.Arg1087Gln)
c.3182G>A (p.Arg1061Gln)
c.3152G>A (p.Arg1051Gln)
c.3452G>A (p.Arg1151Gln)
c.3461G>A (p.Arg1154Gln)
c.2807G>A (p.Arg936Gln)
c.3251G>A (p.Arg1084Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786336G>CCA5327781KCNT1c.3317G>C (p.Arg1106Pro)
c.3158G>C (p.Arg1053Pro)
c.3065G>C (p.Arg1022Pro)
c.3074G>C (p.Arg1025Pro)
c.3218G>C (p.Arg1073Pro)
c.*2927G>C (n.*2927G>C)
c.3200G>C (p.Arg1067Pro)
c.3239G>C (p.Arg1080Pro)
c.3254G>C (p.Arg1085Pro)
n.4002G>C
c.3260G>C (p.Arg1087Pro)
c.3182G>C (p.Arg1061Pro)
c.3152G>C (p.Arg1051Pro)
c.3452G>C (p.Arg1151Pro)
c.3461G>C (p.Arg1154Pro)
c.2807G>C (p.Arg936Pro)
c.3251G>C (p.Arg1084Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135786336G=CA1883887997KCNT1c.3317G= (p.Arg1106=)
c.3158G= (p.Arg1053=)
c.3065G= (p.Arg1022=)
c.3074G= (p.Arg1025=)
c.3218G= (p.Arg1073=)
c.*2927G= (n.*2927G=)
c.3200G= (p.Arg1067=)
c.3239G= (p.Arg1080=)
c.3254G= (p.Arg1085=)
n.4002G=
c.3260G= (p.Arg1087=)
c.3182G= (p.Arg1061=)
c.3152G= (p.Arg1051=)
c.3452G= (p.Arg1151=)
c.3461G= (p.Arg1154=)
c.2807G= (p.Arg936=)
c.3251G= (p.Arg1084=)
9g.135786336G>TCA5327780KCNT1c.3317G>T (p.Arg1106Leu)
c.3158G>T (p.Arg1053Leu)
c.3065G>T (p.Arg1022Leu)
c.3074G>T (p.Arg1025Leu)
c.3218G>T (p.Arg1073Leu)
c.*2927G>T (n.*2927G>T)
c.3200G>T (p.Arg1067Leu)
c.3239G>T (p.Arg1080Leu)
c.3254G>T (p.Arg1085Leu)
n.4002G>T
c.3260G>T (p.Arg1087Leu)
c.3182G>T (p.Arg1061Leu)
c.3152G>T (p.Arg1051Leu)
c.3452G>T (p.Arg1151Leu)
c.3461G>T (p.Arg1154Leu)
c.2807G>T (p.Arg936Leu)
c.3251G>T (p.Arg1084Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135786337G>ACA467821232KCNT1c.3318G>A (p.Arg1106=)
c.3159G>A (p.Arg1053=)
c.3066G>A (p.Arg1022=)
c.3075G>A (p.Arg1025=)
c.3219G>A (p.Arg1073=)
c.*2928G>A (n.*2928G>A)
c.3201G>A (p.Arg1067=)
c.3240G>A (p.Arg1080=)
c.3255G>A (p.Arg1085=)
n.4003G>A
c.3261G>A (p.Arg1087=)
c.3183G>A (p.Arg1061=)
c.3153G>A (p.Arg1051=)
c.3453G>A (p.Arg1151=)
c.3462G>A (p.Arg1154=)
c.2808G>A (p.Arg936=)
c.3252G>A (p.Arg1084=)
 ClinVar dbSNP gnomAD v4
9g.135786337G>CCA467821233KCNT1c.3318G>C (p.Arg1106=)
c.3159G>C (p.Arg1053=)
c.3066G>C (p.Arg1022=)
c.3075G>C (p.Arg1025=)
c.3219G>C (p.Arg1073=)
c.*2928G>C (n.*2928G>C)
c.3201G>C (p.Arg1067=)
c.3240G>C (p.Arg1080=)
c.3255G>C (p.Arg1085=)
n.4003G>C
c.3261G>C (p.Arg1087=)
c.3183G>C (p.Arg1061=)
c.3153G>C (p.Arg1051=)
c.3453G>C (p.Arg1151=)
c.3462G>C (p.Arg1154=)
c.2808G>C (p.Arg936=)
c.3252G>C (p.Arg1084=)
9g.135786337G>TCA467821234KCNT1c.3318G>T (p.Arg1106=)
c.3159G>T (p.Arg1053=)
c.3066G>T (p.Arg1022=)
c.3075G>T (p.Arg1025=)
c.3219G>T (p.Arg1073=)
c.*2928G>T (n.*2928G>T)
c.3201G>T (p.Arg1067=)
c.3240G>T (p.Arg1080=)
c.3255G>T (p.Arg1085=)
n.4003G>T
c.3261G>T (p.Arg1087=)
c.3183G>T (p.Arg1061=)
c.3153G>T (p.Arg1051=)
c.3453G>T (p.Arg1151=)
c.3462G>T (p.Arg1154=)
c.2808G>T (p.Arg936=)
c.3252G>T (p.Arg1084=)
 gnomAD v4
9g.135786338C>ACA375491710KCNT1c.3319C>A (p.Arg1107Ser)
c.3160C>A (p.Arg1054Ser)
c.3067C>A (p.Arg1023Ser)
c.3076C>A (p.Arg1026Ser)
c.3220C>A (p.Arg1074Ser)
c.*2929C>A (n.*2929C>A)
c.3202C>A (p.Arg1068Ser)
c.3241C>A (p.Arg1081Ser)
c.3256C>A (p.Arg1086Ser)
n.4004C>A
c.3262C>A (p.Arg1088Ser)
c.3184C>A (p.Arg1062Ser)
c.3154C>A (p.Arg1052Ser)
c.3454C>A (p.Arg1152Ser)
c.3463C>A (p.Arg1155Ser)
c.2809C>A (p.Arg937Ser)
c.3253C>A (p.Arg1085Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.135786338C=CA1883888009KCNT1c.3319C= (p.Arg1107=)
c.3160C= (p.Arg1054=)
c.3067C= (p.Arg1023=)
c.3076C= (p.Arg1026=)
c.3220C= (p.Arg1074=)
c.*2929C= (n.*2929C=)
c.3202C= (p.Arg1068=)
c.3241C= (p.Arg1081=)
c.3256C= (p.Arg1086=)
n.4004C=
c.3262C= (p.Arg1088=)
c.3184C= (p.Arg1062=)
c.3154C= (p.Arg1052=)
c.3454C= (p.Arg1152=)
c.3463C= (p.Arg1155=)
c.2809C= (p.Arg937=)
c.3253C= (p.Arg1085=)
9g.135786338C>GCA375491711KCNT1c.3319C>G (p.Arg1107Gly)
c.3160C>G (p.Arg1054Gly)
c.3067C>G (p.Arg1023Gly)
c.3076C>G (p.Arg1026Gly)
c.3220C>G (p.Arg1074Gly)
c.*2929C>G (n.*2929C>G)
c.3202C>G (p.Arg1068Gly)
c.3241C>G (p.Arg1081Gly)
c.3256C>G (p.Arg1086Gly)
n.4004C>G
c.3262C>G (p.Arg1088Gly)
c.3184C>G (p.Arg1062Gly)
c.3154C>G (p.Arg1052Gly)
c.3454C>G (p.Arg1152Gly)
c.3463C>G (p.Arg1155Gly)
c.2809C>G (p.Arg937Gly)
c.3253C>G (p.Arg1085Gly)
 gnomAD v4
9g.135786338C>TCA5327782KCNT1c.3319C>T (p.Arg1107Cys)
c.3160C>T (p.Arg1054Cys)
c.3067C>T (p.Arg1023Cys)
c.3076C>T (p.Arg1026Cys)
c.3220C>T (p.Arg1074Cys)
c.*2929C>T (n.*2929C>T)
c.3202C>T (p.Arg1068Cys)
c.3241C>T (p.Arg1081Cys)
c.3256C>T (p.Arg1086Cys)
n.4004C>T
c.3262C>T (p.Arg1088Cys)
c.3184C>T (p.Arg1062Cys)
c.3154C>T (p.Arg1052Cys)
c.3454C>T (p.Arg1152Cys)
c.3463C>T (p.Arg1155Cys)
c.2809C>T (p.Arg937Cys)
c.3253C>T (p.Arg1085Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786339G>ACA5327783KCNT1c.3320G>A (p.Arg1107His)
c.3161G>A (p.Arg1054His)
c.3068G>A (p.Arg1023His)
c.3077G>A (p.Arg1026His)
c.3221G>A (p.Arg1074His)
c.*2930G>A (n.*2930G>A)
c.3203G>A (p.Arg1068His)
c.3242G>A (p.Arg1081His)
c.3257G>A (p.Arg1086His)
n.4005G>A
c.3263G>A (p.Arg1088His)
c.3185G>A (p.Arg1062His)
c.3155G>A (p.Arg1052His)
c.3455G>A (p.Arg1152His)
c.3464G>A (p.Arg1155His)
c.2810G>A (p.Arg937His)
c.3254G>A (p.Arg1085His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786339G>CCA5327784KCNT1c.3320G>C (p.Arg1107Pro)
c.3161G>C (p.Arg1054Pro)
c.3068G>C (p.Arg1023Pro)
c.3077G>C (p.Arg1026Pro)
c.3221G>C (p.Arg1074Pro)
c.*2930G>C (n.*2930G>C)
c.3203G>C (p.Arg1068Pro)
c.3242G>C (p.Arg1081Pro)
c.3257G>C (p.Arg1086Pro)
n.4005G>C
c.3263G>C (p.Arg1088Pro)
c.3185G>C (p.Arg1062Pro)
c.3155G>C (p.Arg1052Pro)
c.3455G>C (p.Arg1152Pro)
c.3464G>C (p.Arg1155Pro)
c.2810G>C (p.Arg937Pro)
c.3254G>C (p.Arg1085Pro)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135786339G=CA1883888017KCNT1c.3320G= (p.Arg1107=)
c.3161G= (p.Arg1054=)
c.3068G= (p.Arg1023=)
c.3077G= (p.Arg1026=)
c.3221G= (p.Arg1074=)
c.*2930G= (n.*2930G=)
c.3203G= (p.Arg1068=)
c.3242G= (p.Arg1081=)
c.3257G= (p.Arg1086=)
n.4005G=
c.3263G= (p.Arg1088=)
c.3185G= (p.Arg1062=)
c.3155G= (p.Arg1052=)
c.3455G= (p.Arg1152=)
c.3464G= (p.Arg1155=)
c.2810G= (p.Arg937=)
c.3254G= (p.Arg1085=)
9g.135786339G>TCA375491712KCNT1c.3320G>T (p.Arg1107Leu)
c.3161G>T (p.Arg1054Leu)
c.3068G>T (p.Arg1023Leu)
c.3077G>T (p.Arg1026Leu)
c.3221G>T (p.Arg1074Leu)
c.*2930G>T (n.*2930G>T)
c.3203G>T (p.Arg1068Leu)
c.3242G>T (p.Arg1081Leu)
c.3257G>T (p.Arg1086Leu)
n.4005G>T
c.3263G>T (p.Arg1088Leu)
c.3185G>T (p.Arg1062Leu)
c.3155G>T (p.Arg1052Leu)
c.3455G>T (p.Arg1152Leu)
c.3464G>T (p.Arg1155Leu)
c.2810G>T (p.Arg937Leu)
c.3254G>T (p.Arg1085Leu)
 gnomAD v4
9g.135786339_135786341delCA2692525570KCNT1c.3320_3322del (p.Arg1107_Lys1108delinsGln)
c.3161_3163del (p.Arg1054_Lys1055delinsGln)
c.3068_3070del (p.Arg1023_Lys1024delinsGln)
c.3077_3079del (p.Arg1026_Lys1027delinsGln)
c.3221_3223del (p.Arg1074_Lys1075delinsGln)
c.*2930_*2932del (n.*2930_*2932del)
c.3203_3205del (p.Arg1068_Lys1069delinsGln)
c.3242_3244del (p.Arg1081_Lys1082delinsGln)
c.3257_3259del (p.Arg1086_Lys1087delinsGln)
n.4005_4007del
c.3263_3265del (p.Arg1088_Lys1089delinsGln)
c.3185_3187del (p.Arg1062_Lys1063delinsGln)
c.3155_3157del (p.Arg1052_Lys1053delinsGln)
c.3455_3457del (p.Arg1152_Lys1153delinsGln)
c.3464_3466del (p.Arg1155_Lys1156delinsGln)
c.2810_2812del (p.Arg937_Lys938delinsGln)
c.3254_3256del (p.Arg1085_Lys1086delinsGln)
 gnomAD v4
9g.135786340C>ACA467821235KCNT1c.3321C>A (p.Arg1107=)
c.3162C>A (p.Arg1054=)
c.3069C>A (p.Arg1023=)
c.3078C>A (p.Arg1026=)
c.3222C>A (p.Arg1074=)
c.*2931C>A (n.*2931C>A)
c.3204C>A (p.Arg1068=)
c.3243C>A (p.Arg1081=)
c.3258C>A (p.Arg1086=)
n.4006C>A
c.3264C>A (p.Arg1088=)
c.3186C>A (p.Arg1062=)
c.3156C>A (p.Arg1052=)
c.3456C>A (p.Arg1152=)
c.3465C>A (p.Arg1155=)
c.2811C>A (p.Arg937=)
c.3255C>A (p.Arg1085=)
9g.135786340C>GCA467821236KCNT1c.3321C>G (p.Arg1107=)
c.3162C>G (p.Arg1054=)
c.3069C>G (p.Arg1023=)
c.3078C>G (p.Arg1026=)
c.3222C>G (p.Arg1074=)
c.*2931C>G (n.*2931C>G)
c.3204C>G (p.Arg1068=)
c.3243C>G (p.Arg1081=)
c.3258C>G (p.Arg1086=)
n.4006C>G
c.3264C>G (p.Arg1088=)
c.3186C>G (p.Arg1062=)
c.3156C>G (p.Arg1052=)
c.3456C>G (p.Arg1152=)
c.3465C>G (p.Arg1155=)
c.2811C>G (p.Arg937=)
c.3255C>G (p.Arg1085=)
9g.135786340C>TCA467821237KCNT1c.3321C>T (p.Arg1107=)
c.3162C>T (p.Arg1054=)
c.3069C>T (p.Arg1023=)
c.3078C>T (p.Arg1026=)
c.3222C>T (p.Arg1074=)
c.*2931C>T (n.*2931C>T)
c.3204C>T (p.Arg1068=)
c.3243C>T (p.Arg1081=)
c.3258C>T (p.Arg1086=)
n.4006C>T
c.3264C>T (p.Arg1088=)
c.3186C>T (p.Arg1062=)
c.3156C>T (p.Arg1052=)
c.3456C>T (p.Arg1152=)
c.3465C>T (p.Arg1155=)
c.2811C>T (p.Arg937=)
c.3255C>T (p.Arg1085=)
9g.135786341A=CA1883888031KCNT1c.3322A= (p.Lys1108=)
c.3163A= (p.Lys1055=)
c.3070A= (p.Lys1024=)
c.3079A= (p.Lys1027=)
c.3223A= (p.Lys1075=)
c.*2932A= (n.*2932A=)
c.3205A= (p.Lys1069=)
c.3244A= (p.Lys1082=)
c.3259A= (p.Lys1087=)
n.4007A=
c.3265A= (p.Lys1089=)
c.3187A= (p.Lys1063=)
c.3157A= (p.Lys1053=)
c.3457A= (p.Lys1153=)
c.3466A= (p.Lys1156=)
c.2812A= (p.Lys938=)
c.3256A= (p.Lys1086=)
9g.135786341A>CCA375491713KCNT1c.3322A>C (p.Lys1108Gln)
c.3163A>C (p.Lys1055Gln)
c.3070A>C (p.Lys1024Gln)
c.3079A>C (p.Lys1027Gln)
c.3223A>C (p.Lys1075Gln)
c.*2932A>C (n.*2932A>C)
c.3205A>C (p.Lys1069Gln)
c.3244A>C (p.Lys1082Gln)
c.3259A>C (p.Lys1087Gln)
n.4007A>C
c.3265A>C (p.Lys1089Gln)
c.3187A>C (p.Lys1063Gln)
c.3157A>C (p.Lys1053Gln)
c.3457A>C (p.Lys1153Gln)
c.3466A>C (p.Lys1156Gln)
c.2812A>C (p.Lys938Gln)
c.3256A>C (p.Lys1086Gln)
9g.135786341A>GCA375491714KCNT1c.3322A>G (p.Lys1108Glu)
c.3163A>G (p.Lys1055Glu)
c.3070A>G (p.Lys1024Glu)
c.3079A>G (p.Lys1027Glu)
c.3223A>G (p.Lys1075Glu)
c.*2932A>G (n.*2932A>G)
c.3205A>G (p.Lys1069Glu)
c.3244A>G (p.Lys1082Glu)
c.3259A>G (p.Lys1087Glu)
n.4007A>G
c.3265A>G (p.Lys1089Glu)
c.3187A>G (p.Lys1063Glu)
c.3157A>G (p.Lys1053Glu)
c.3457A>G (p.Lys1153Glu)
c.3466A>G (p.Lys1156Glu)
c.2812A>G (p.Lys938Glu)
c.3256A>G (p.Lys1086Glu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.135786341A>TCA375491715KCNT1c.3322A>T (p.Lys1108Ter)
c.3163A>T (p.Lys1055Ter)
c.3070A>T (p.Lys1024Ter)
c.3079A>T (p.Lys1027Ter)
c.3223A>T (p.Lys1075Ter)
c.*2932A>T (n.*2932A>T)
c.3205A>T (p.Lys1069Ter)
c.3244A>T (p.Lys1082Ter)
c.3259A>T (p.Lys1087Ter)
n.4007A>T
c.3265A>T (p.Lys1089Ter)
c.3187A>T (p.Lys1063Ter)
c.3157A>T (p.Lys1053Ter)
c.3457A>T (p.Lys1153Ter)
c.3466A>T (p.Lys1156Ter)
c.2812A>T (p.Lys938Ter)
c.3256A>T (p.Lys1086Ter)
9g.135786342A>CCA375491716KCNT1c.3323A>C (p.Lys1108Thr)
c.3164A>C (p.Lys1055Thr)
c.3071A>C (p.Lys1024Thr)
c.3080A>C (p.Lys1027Thr)
c.3224A>C (p.Lys1075Thr)
c.*2933A>C (n.*2933A>C)
c.3206A>C (p.Lys1069Thr)
c.3245A>C (p.Lys1082Thr)
c.3260A>C (p.Lys1087Thr)
n.4008A>C
c.3266A>C (p.Lys1089Thr)
c.3188A>C (p.Lys1063Thr)
c.3158A>C (p.Lys1053Thr)
c.3458A>C (p.Lys1153Thr)
c.3467A>C (p.Lys1156Thr)
c.2813A>C (p.Lys938Thr)
c.3257A>C (p.Lys1086Thr)
9g.135786342A>GCA375491718KCNT1c.3323A>G (p.Lys1108Arg)
c.3164A>G (p.Lys1055Arg)
c.3071A>G (p.Lys1024Arg)
c.3080A>G (p.Lys1027Arg)
c.3224A>G (p.Lys1075Arg)
c.*2933A>G (n.*2933A>G)
c.3206A>G (p.Lys1069Arg)
c.3245A>G (p.Lys1082Arg)
c.3260A>G (p.Lys1087Arg)
n.4008A>G
c.3266A>G (p.Lys1089Arg)
c.3188A>G (p.Lys1063Arg)
c.3158A>G (p.Lys1053Arg)
c.3458A>G (p.Lys1153Arg)
c.3467A>G (p.Lys1156Arg)
c.2813A>G (p.Lys938Arg)
c.3257A>G (p.Lys1086Arg)
9g.135786342A>TCA375491717KCNT1c.3323A>T (p.Lys1108Met)
c.3164A>T (p.Lys1055Met)
c.3071A>T (p.Lys1024Met)
c.3080A>T (p.Lys1027Met)
c.3224A>T (p.Lys1075Met)
c.*2933A>T (n.*2933A>T)
c.3206A>T (p.Lys1069Met)
c.3245A>T (p.Lys1082Met)
c.3260A>T (p.Lys1087Met)
n.4008A>T
c.3266A>T (p.Lys1089Met)
c.3188A>T (p.Lys1063Met)
c.3158A>T (p.Lys1053Met)
c.3458A>T (p.Lys1153Met)
c.3467A>T (p.Lys1156Met)
c.2813A>T (p.Lys938Met)
c.3257A>T (p.Lys1086Met)
9g.135786343G>ACA467821238KCNT1c.3324G>A (p.Lys1108=)
c.3165G>A (p.Lys1055=)
c.3072G>A (p.Lys1024=)
c.3081G>A (p.Lys1027=)
c.3225G>A (p.Lys1075=)
c.*2934G>A (n.*2934G>A)
c.3207G>A (p.Lys1069=)
c.3246G>A (p.Lys1082=)
c.3261G>A (p.Lys1087=)
n.4009G>A
c.3267G>A (p.Lys1089=)
c.3189G>A (p.Lys1063=)
c.3159G>A (p.Lys1053=)
c.3459G>A (p.Lys1153=)
c.3468G>A (p.Lys1156=)
c.2814G>A (p.Lys938=)
c.3258G>A (p.Lys1086=)
 dbSNP gnomAD v2 gnomAD v4
9g.135786343G>CCA375491719KCNT1c.3324G>C (p.Lys1108Asn)
c.3165G>C (p.Lys1055Asn)
c.3072G>C (p.Lys1024Asn)
c.3081G>C (p.Lys1027Asn)
c.3225G>C (p.Lys1075Asn)
c.*2934G>C (n.*2934G>C)
c.3207G>C (p.Lys1069Asn)
c.3246G>C (p.Lys1082Asn)
c.3261G>C (p.Lys1087Asn)
n.4009G>C
c.3267G>C (p.Lys1089Asn)
c.3189G>C (p.Lys1063Asn)
c.3159G>C (p.Lys1053Asn)
c.3459G>C (p.Lys1153Asn)
c.3468G>C (p.Lys1156Asn)
c.2814G>C (p.Lys938Asn)
c.3258G>C (p.Lys1086Asn)
9g.135786343G=CA1883888034KCNT1c.3324G= (p.Lys1108=)
c.3165G= (p.Lys1055=)
c.3072G= (p.Lys1024=)
c.3081G= (p.Lys1027=)
c.3225G= (p.Lys1075=)
c.*2934G= (n.*2934G=)
c.3207G= (p.Lys1069=)
c.3246G= (p.Lys1082=)
c.3261G= (p.Lys1087=)
n.4009G=
c.3267G= (p.Lys1089=)
c.3189G= (p.Lys1063=)
c.3159G= (p.Lys1053=)
c.3459G= (p.Lys1153=)
c.3468G= (p.Lys1156=)
c.2814G= (p.Lys938=)
c.3258G= (p.Lys1086=)
9g.135786343G>TCA375491720KCNT1c.3324G>T (p.Lys1108Asn)
c.3165G>T (p.Lys1055Asn)
c.3072G>T (p.Lys1024Asn)
c.3081G>T (p.Lys1027Asn)
c.3225G>T (p.Lys1075Asn)
c.*2934G>T (n.*2934G>T)
c.3207G>T (p.Lys1069Asn)
c.3246G>T (p.Lys1082Asn)
c.3261G>T (p.Lys1087Asn)
n.4009G>T
c.3267G>T (p.Lys1089Asn)
c.3189G>T (p.Lys1063Asn)
c.3159G>T (p.Lys1053Asn)
c.3459G>T (p.Lys1153Asn)
c.3468G>T (p.Lys1156Asn)
c.2814G>T (p.Lys938Asn)
c.3258G>T (p.Lys1086Asn)
9g.135786344A>CCA375491721KCNT1c.3325A>C (p.Ser1109Arg)
c.3166A>C (p.Ser1056Arg)
c.3073A>C (p.Ser1025Arg)
c.3082A>C (p.Ser1028Arg)
c.3226A>C (p.Ser1076Arg)
c.*2935A>C (n.*2935A>C)
c.3208A>C (p.Ser1070Arg)
c.3247A>C (p.Ser1083Arg)
c.3262A>C (p.Ser1088Arg)
n.4010A>C
c.3268A>C (p.Ser1090Arg)
c.3190A>C (p.Ser1064Arg)
c.3160A>C (p.Ser1054Arg)
c.3460A>C (p.Ser1154Arg)
c.3469A>C (p.Ser1157Arg)
c.2815A>C (p.Ser939Arg)
c.3259A>C (p.Ser1087Arg)
9g.135786344A>GCA375491722KCNT1c.3325A>G (p.Ser1109Gly)
c.3166A>G (p.Ser1056Gly)
c.3073A>G (p.Ser1025Gly)
c.3082A>G (p.Ser1028Gly)
c.3226A>G (p.Ser1076Gly)
c.*2935A>G (n.*2935A>G)
c.3208A>G (p.Ser1070Gly)
c.3247A>G (p.Ser1083Gly)
c.3262A>G (p.Ser1088Gly)
n.4010A>G
c.3268A>G (p.Ser1090Gly)
c.3190A>G (p.Ser1064Gly)
c.3160A>G (p.Ser1054Gly)
c.3460A>G (p.Ser1154Gly)
c.3469A>G (p.Ser1157Gly)
c.2815A>G (p.Ser939Gly)
c.3259A>G (p.Ser1087Gly)
9g.135786344A>TCA375491723KCNT1c.3325A>T (p.Ser1109Cys)
c.3166A>T (p.Ser1056Cys)
c.3073A>T (p.Ser1025Cys)
c.3082A>T (p.Ser1028Cys)
c.3226A>T (p.Ser1076Cys)
c.*2935A>T (n.*2935A>T)
c.3208A>T (p.Ser1070Cys)
c.3247A>T (p.Ser1083Cys)
c.3262A>T (p.Ser1088Cys)
n.4010A>T
c.3268A>T (p.Ser1090Cys)
c.3190A>T (p.Ser1064Cys)
c.3160A>T (p.Ser1054Cys)
c.3460A>T (p.Ser1154Cys)
c.3469A>T (p.Ser1157Cys)
c.2815A>T (p.Ser939Cys)
c.3259A>T (p.Ser1087Cys)
9g.135786345G>ACA375491725KCNT1c.3326G>A (p.Ser1109Asn)
c.3167G>A (p.Ser1056Asn)
c.3074G>A (p.Ser1025Asn)
c.3083G>A (p.Ser1028Asn)
c.3227G>A (p.Ser1076Asn)
c.*2936G>A (n.*2936G>A)
c.3209G>A (p.Ser1070Asn)
c.3248G>A (p.Ser1083Asn)
c.3263G>A (p.Ser1088Asn)
n.4011G>A
c.3269G>A (p.Ser1090Asn)
c.3191G>A (p.Ser1064Asn)
c.3161G>A (p.Ser1054Asn)
c.3461G>A (p.Ser1154Asn)
c.3470G>A (p.Ser1157Asn)
c.2816G>A (p.Ser939Asn)
c.3260G>A (p.Ser1087Asn)
 ClinVar dbSNP
9g.135786345G>CCA375491726KCNT1c.3326G>C (p.Ser1109Thr)
c.3167G>C (p.Ser1056Thr)
c.3074G>C (p.Ser1025Thr)
c.3083G>C (p.Ser1028Thr)
c.3227G>C (p.Ser1076Thr)
c.*2936G>C (n.*2936G>C)
c.3209G>C (p.Ser1070Thr)
c.3248G>C (p.Ser1083Thr)
c.3263G>C (p.Ser1088Thr)
n.4011G>C
c.3269G>C (p.Ser1090Thr)
c.3191G>C (p.Ser1064Thr)
c.3161G>C (p.Ser1054Thr)
c.3461G>C (p.Ser1154Thr)
c.3470G>C (p.Ser1157Thr)
c.2816G>C (p.Ser939Thr)
c.3260G>C (p.Ser1087Thr)
9g.135786345G=CA1883888041KCNT1c.3326G= (p.Ser1109=)
c.3167G= (p.Ser1056=)
c.3074G= (p.Ser1025=)
c.3083G= (p.Ser1028=)
c.3227G= (p.Ser1076=)
c.*2936G= (n.*2936G=)
c.3209G= (p.Ser1070=)
c.3248G= (p.Ser1083=)
c.3263G= (p.Ser1088=)
n.4011G=
c.3269G= (p.Ser1090=)
c.3191G= (p.Ser1064=)
c.3161G= (p.Ser1054=)
c.3461G= (p.Ser1154=)
c.3470G= (p.Ser1157=)
c.2816G= (p.Ser939=)
c.3260G= (p.Ser1087=)
9g.135786345G>TCA375491724KCNT1c.3326G>T (p.Ser1109Ile)
c.3167G>T (p.Ser1056Ile)
c.3074G>T (p.Ser1025Ile)
c.3083G>T (p.Ser1028Ile)
c.3227G>T (p.Ser1076Ile)
c.*2936G>T (n.*2936G>T)
c.3209G>T (p.Ser1070Ile)
c.3248G>T (p.Ser1083Ile)
c.3263G>T (p.Ser1088Ile)
n.4011G>T
c.3269G>T (p.Ser1090Ile)
c.3191G>T (p.Ser1064Ile)
c.3161G>T (p.Ser1054Ile)
c.3461G>T (p.Ser1154Ile)
c.3470G>T (p.Ser1157Ile)
c.2816G>T (p.Ser939Ile)
c.3260G>T (p.Ser1087Ile)
9g.135786346C>ACA375491728KCNT1c.3327C>A (p.Ser1109Arg)
c.3168C>A (p.Ser1056Arg)
c.3075C>A (p.Ser1025Arg)
c.3084C>A (p.Ser1028Arg)
c.3228C>A (p.Ser1076Arg)
c.*2937C>A (n.*2937C>A)
c.3210C>A (p.Ser1070Arg)
c.3249C>A (p.Ser1083Arg)
c.3264C>A (p.Ser1088Arg)
n.4012C>A
c.3270C>A (p.Ser1090Arg)
c.3192C>A (p.Ser1064Arg)
c.3162C>A (p.Ser1054Arg)
c.3462C>A (p.Ser1154Arg)
c.3471C>A (p.Ser1157Arg)
c.2817C>A (p.Ser939Arg)
c.3261C>A (p.Ser1087Arg)
 gnomAD v4
9g.135786346C>GCA375491727KCNT1c.3327C>G (p.Ser1109Arg)
c.3168C>G (p.Ser1056Arg)
c.3075C>G (p.Ser1025Arg)
c.3084C>G (p.Ser1028Arg)
c.3228C>G (p.Ser1076Arg)
c.*2937C>G (n.*2937C>G)
c.3210C>G (p.Ser1070Arg)
c.3249C>G (p.Ser1083Arg)
c.3264C>G (p.Ser1088Arg)
n.4012C>G
c.3270C>G (p.Ser1090Arg)
c.3192C>G (p.Ser1064Arg)
c.3162C>G (p.Ser1054Arg)
c.3462C>G (p.Ser1154Arg)
c.3471C>G (p.Ser1157Arg)
c.2817C>G (p.Ser939Arg)
c.3261C>G (p.Ser1087Arg)
9g.135786346C>TCA467821239KCNT1c.3327C>T (p.Ser1109=)
c.3168C>T (p.Ser1056=)
c.3075C>T (p.Ser1025=)
c.3084C>T (p.Ser1028=)
c.3228C>T (p.Ser1076=)
c.*2937C>T (n.*2937C>T)
c.3210C>T (p.Ser1070=)
c.3249C>T (p.Ser1083=)
c.3264C>T (p.Ser1088=)
n.4012C>T
c.3270C>T (p.Ser1090=)
c.3192C>T (p.Ser1064=)
c.3162C>T (p.Ser1054=)
c.3462C>T (p.Ser1154=)
c.3471C>T (p.Ser1157=)
c.2817C>T (p.Ser939=)
c.3261C>T (p.Ser1087=)
 ClinVar COSMIC COSMIC
9g.135786346_135786347insACCCACCA2692525582KCNT1c.3327_3328insACCCAC (p.Ser1109_Leu1110insThrHis)
c.3168_3169insACCCAC (p.Ser1056_Leu1057insThrHis)
c.3075_3076insACCCAC (p.Ser1025_Leu1026insThrHis)
c.3084_3085insACCCAC (p.Ser1028_Leu1029insThrHis)
c.3228_3229insACCCAC (p.Ser1076_Leu1077insThrHis)
c.*2937_*2938insACCCAC (n.*2937_*2938insACCCAC)
c.3210_3211insACCCAC (p.Ser1070_Leu1071insThrHis)
c.3249_3250insACCCAC (p.Ser1083_Leu1084insThrHis)
c.3264_3265insACCCAC (p.Ser1088_Leu1089insThrHis)
n.4012_4013insACCCAC
c.3270_3271insACCCAC (p.Ser1090_Leu1091insThrHis)
c.3192_3193insACCCAC (p.Ser1064_Leu1065insThrHis)
c.3162_3163insACCCAC (p.Ser1054_Leu1055insThrHis)
c.3462_3463insACCCAC (p.Ser1154_Leu1155insThrHis)
c.3471_3472insACCCAC (p.Ser1157_Leu1158insThrHis)
c.2817_2818insACCCAC (p.Ser939_Leu940insThrHis)
c.3261_3262insACCCAC (p.Ser1087_Leu1088insThrHis)
 gnomAD v4
9g.135786347C>ACA375491729KCNT1c.3328C>A (p.Leu1110Met)
c.3169C>A (p.Leu1057Met)
c.3076C>A (p.Leu1026Met)
c.3085C>A (p.Leu1029Met)
c.3229C>A (p.Leu1077Met)
c.*2938C>A (n.*2938C>A)
c.3211C>A (p.Leu1071Met)
c.3250C>A (p.Leu1084Met)
c.3265C>A (p.Leu1089Met)
n.4013C>A
c.3271C>A (p.Leu1091Met)
c.3193C>A (p.Leu1065Met)
c.3163C>A (p.Leu1055Met)
c.3463C>A (p.Leu1155Met)
c.3472C>A (p.Leu1158Met)
c.2818C>A (p.Leu940Met)
c.3262C>A (p.Leu1088Met)
 gnomAD v4
9g.135786347C>GCA375491730KCNT1c.3328C>G (p.Leu1110Val)
c.3169C>G (p.Leu1057Val)
c.3076C>G (p.Leu1026Val)
c.3085C>G (p.Leu1029Val)
c.3229C>G (p.Leu1077Val)
c.*2938C>G (n.*2938C>G)
c.3211C>G (p.Leu1071Val)
c.3250C>G (p.Leu1084Val)
c.3265C>G (p.Leu1089Val)
n.4013C>G
c.3271C>G (p.Leu1091Val)
c.3193C>G (p.Leu1065Val)
c.3163C>G (p.Leu1055Val)
c.3463C>G (p.Leu1155Val)
c.3472C>G (p.Leu1158Val)
c.2818C>G (p.Leu940Val)
c.3262C>G (p.Leu1088Val)
9g.135786347C>TCA467821240KCNT1c.3328C>T (p.Leu1110=)
c.3169C>T (p.Leu1057=)
c.3076C>T (p.Leu1026=)
c.3085C>T (p.Leu1029=)
c.3229C>T (p.Leu1077=)
c.*2938C>T (n.*2938C>T)
c.3211C>T (p.Leu1071=)
c.3250C>T (p.Leu1084=)
c.3265C>T (p.Leu1089=)
n.4013C>T
c.3271C>T (p.Leu1091=)
c.3193C>T (p.Leu1065=)
c.3163C>T (p.Leu1055=)
c.3463C>T (p.Leu1155=)
c.3472C>T (p.Leu1158=)
c.2818C>T (p.Leu940=)
c.3262C>T (p.Leu1088=)
 ClinVar gnomAD v4
9g.135786348T>ACA375491731KCNT1c.3329T>A (p.Leu1110Gln)
c.3170T>A (p.Leu1057Gln)
c.3077T>A (p.Leu1026Gln)
c.3086T>A (p.Leu1029Gln)
c.3230T>A (p.Leu1077Gln)
c.*2939T>A (n.*2939T>A)
c.3212T>A (p.Leu1071Gln)
c.3251T>A (p.Leu1084Gln)
c.3266T>A (p.Leu1089Gln)
n.4014T>A
c.3272T>A (p.Leu1091Gln)
c.3194T>A (p.Leu1065Gln)
c.3164T>A (p.Leu1055Gln)
c.3464T>A (p.Leu1155Gln)
c.3473T>A (p.Leu1158Gln)
c.2819T>A (p.Leu940Gln)
c.3263T>A (p.Leu1088Gln)
9g.135786348T>CCA375491732KCNT1c.3329T>C (p.Leu1110Pro)
c.3170T>C (p.Leu1057Pro)
c.3077T>C (p.Leu1026Pro)
c.3086T>C (p.Leu1029Pro)
c.3230T>C (p.Leu1077Pro)
c.*2939T>C (n.*2939T>C)
c.3212T>C (p.Leu1071Pro)
c.3251T>C (p.Leu1084Pro)
c.3266T>C (p.Leu1089Pro)
n.4014T>C
c.3272T>C (p.Leu1091Pro)
c.3194T>C (p.Leu1065Pro)
c.3164T>C (p.Leu1055Pro)
c.3464T>C (p.Leu1155Pro)
c.3473T>C (p.Leu1158Pro)
c.2819T>C (p.Leu940Pro)
c.3263T>C (p.Leu1088Pro)
 gnomAD v4 COSMIC COSMIC
9g.135786348T>GCA375491733KCNT1c.3329T>G (p.Leu1110Arg)
c.3170T>G (p.Leu1057Arg)
c.3077T>G (p.Leu1026Arg)
c.3086T>G (p.Leu1029Arg)
c.3230T>G (p.Leu1077Arg)
c.*2939T>G (n.*2939T>G)
c.3212T>G (p.Leu1071Arg)
c.3251T>G (p.Leu1084Arg)
c.3266T>G (p.Leu1089Arg)
n.4014T>G
c.3272T>G (p.Leu1091Arg)
c.3194T>G (p.Leu1065Arg)
c.3164T>G (p.Leu1055Arg)
c.3464T>G (p.Leu1155Arg)
c.3473T>G (p.Leu1158Arg)
c.2819T>G (p.Leu940Arg)
c.3263T>G (p.Leu1088Arg)
9g.135786349G>ACA467821241KCNT1c.3330G>A (p.Leu1110=)
c.3171G>A (p.Leu1057=)
c.3078G>A (p.Leu1026=)
c.3087G>A (p.Leu1029=)
c.3231G>A (p.Leu1077=)
c.*2940G>A (n.*2940G>A)
c.3213G>A (p.Leu1071=)
c.3252G>A (p.Leu1084=)
c.3267G>A (p.Leu1089=)
n.4015G>A
c.3273G>A (p.Leu1091=)
c.3195G>A (p.Leu1065=)
c.3165G>A (p.Leu1055=)
c.3465G>A (p.Leu1155=)
c.3474G>A (p.Leu1158=)
c.2820G>A (p.Leu940=)
c.3264G>A (p.Leu1088=)
9g.135786349G>CCA467821242KCNT1c.3330G>C (p.Leu1110=)
c.3171G>C (p.Leu1057=)
c.3078G>C (p.Leu1026=)
c.3087G>C (p.Leu1029=)
c.3231G>C (p.Leu1077=)
c.*2940G>C (n.*2940G>C)
c.3213G>C (p.Leu1071=)
c.3252G>C (p.Leu1084=)
c.3267G>C (p.Leu1089=)
n.4015G>C
c.3273G>C (p.Leu1091=)
c.3195G>C (p.Leu1065=)
c.3165G>C (p.Leu1055=)
c.3465G>C (p.Leu1155=)
c.3474G>C (p.Leu1158=)
c.2820G>C (p.Leu940=)
c.3264G>C (p.Leu1088=)
 dbSNP gnomAD v4
9g.135786349G=CA1883888046KCNT1c.3330G= (p.Leu1110=)
c.3171G= (p.Leu1057=)
c.3078G= (p.Leu1026=)
c.3087G= (p.Leu1029=)
c.3231G= (p.Leu1077=)
c.*2940G= (n.*2940G=)
c.3213G= (p.Leu1071=)
c.3252G= (p.Leu1084=)
c.3267G= (p.Leu1089=)
n.4015G=
c.3273G= (p.Leu1091=)
c.3195G= (p.Leu1065=)
c.3165G= (p.Leu1055=)
c.3465G= (p.Leu1155=)
c.3474G= (p.Leu1158=)
c.2820G= (p.Leu940=)
c.3264G= (p.Leu1088=)
9g.135786349G>TCA467821243KCNT1c.3330G>T (p.Leu1110=)
c.3171G>T (p.Leu1057=)
c.3078G>T (p.Leu1026=)
c.3087G>T (p.Leu1029=)
c.3231G>T (p.Leu1077=)
c.*2940G>T (n.*2940G>T)
c.3213G>T (p.Leu1071=)
c.3252G>T (p.Leu1084=)
c.3267G>T (p.Leu1089=)
n.4015G>T
c.3273G>T (p.Leu1091=)
c.3195G>T (p.Leu1065=)
c.3165G>T (p.Leu1055=)
c.3465G>T (p.Leu1155=)
c.3474G>T (p.Leu1158=)
c.2820G>T (p.Leu940=)
c.3264G>T (p.Leu1088=)
 dbSNP gnomAD v4
9g.135786350C>ACA375491736KCNT1c.3331C>A (p.Gln1111Lys)
c.3172C>A (p.Gln1058Lys)
c.3079C>A (p.Gln1027Lys)
c.3088C>A (p.Gln1030Lys)
c.3232C>A (p.Gln1078Lys)
c.*2941C>A (n.*2941C>A)
c.3214C>A (p.Gln1072Lys)
c.3253C>A (p.Gln1085Lys)
c.3268C>A (p.Gln1090Lys)
n.4016C>A
c.3274C>A (p.Gln1092Lys)
c.3196C>A (p.Gln1066Lys)
c.3166C>A (p.Gln1056Lys)
c.3466C>A (p.Gln1156Lys)
c.3475C>A (p.Gln1159Lys)
c.2821C>A (p.Gln941Lys)
c.3265C>A (p.Gln1089Lys)
 gnomAD v4
9g.135786350C=CA1883888051KCNT1c.3331C= (p.Gln1111=)
c.3172C= (p.Gln1058=)
c.3079C= (p.Gln1027=)
c.3088C= (p.Gln1030=)
c.3232C= (p.Gln1078=)
c.*2941C= (n.*2941C=)
c.3214C= (p.Gln1072=)
c.3253C= (p.Gln1085=)
c.3268C= (p.Gln1090=)
n.4016C=
c.3274C= (p.Gln1092=)
c.3196C= (p.Gln1066=)
c.3166C= (p.Gln1056=)
c.3466C= (p.Gln1156=)
c.3475C= (p.Gln1159=)
c.2821C= (p.Gln941=)
c.3265C= (p.Gln1089=)
9g.135786350C>GCA375491734KCNT1c.3331C>G (p.Gln1111Glu)
c.3172C>G (p.Gln1058Glu)
c.3079C>G (p.Gln1027Glu)
c.3088C>G (p.Gln1030Glu)
c.3232C>G (p.Gln1078Glu)
c.*2941C>G (n.*2941C>G)
c.3214C>G (p.Gln1072Glu)
c.3253C>G (p.Gln1085Glu)
c.3268C>G (p.Gln1090Glu)
n.4016C>G
c.3274C>G (p.Gln1092Glu)
c.3196C>G (p.Gln1066Glu)
c.3166C>G (p.Gln1056Glu)
c.3466C>G (p.Gln1156Glu)
c.3475C>G (p.Gln1159Glu)
c.2821C>G (p.Gln941Glu)
c.3265C>G (p.Gln1089Glu)
 dbSNP gnomAD v2 gnomAD v4
9g.135786350C>TCA375491735KCNT1c.3331C>T (p.Gln1111Ter)
c.3172C>T (p.Gln1058Ter)
c.3079C>T (p.Gln1027Ter)
c.3088C>T (p.Gln1030Ter)
c.3232C>T (p.Gln1078Ter)
c.*2941C>T (n.*2941C>T)
c.3214C>T (p.Gln1072Ter)
c.3253C>T (p.Gln1085Ter)
c.3268C>T (p.Gln1090Ter)
n.4016C>T
c.3274C>T (p.Gln1092Ter)
c.3196C>T (p.Gln1066Ter)
c.3166C>T (p.Gln1056Ter)
c.3466C>T (p.Gln1156Ter)
c.3475C>T (p.Gln1159Ter)
c.2821C>T (p.Gln941Ter)
c.3265C>T (p.Gln1089Ter)
 gnomAD v4
9g.135786351A>CCA375491737KCNT1c.3332A>C (p.Gln1111Pro)
c.3173A>C (p.Gln1058Pro)
c.3080A>C (p.Gln1027Pro)
c.3089A>C (p.Gln1030Pro)
c.3233A>C (p.Gln1078Pro)
c.*2942A>C (n.*2942A>C)
c.3215A>C (p.Gln1072Pro)
c.3254A>C (p.Gln1085Pro)
c.3269A>C (p.Gln1090Pro)
n.4017A>C
c.3275A>C (p.Gln1092Pro)
c.3197A>C (p.Gln1066Pro)
c.3167A>C (p.Gln1056Pro)
c.3467A>C (p.Gln1156Pro)
c.3476A>C (p.Gln1159Pro)
c.2822A>C (p.Gln941Pro)
c.3266A>C (p.Gln1089Pro)
 gnomAD v4
9g.135786351A>GCA375491738KCNT1c.3332A>G (p.Gln1111Arg)
c.3173A>G (p.Gln1058Arg)
c.3080A>G (p.Gln1027Arg)
c.3089A>G (p.Gln1030Arg)
c.3233A>G (p.Gln1078Arg)
c.*2942A>G (n.*2942A>G)
c.3215A>G (p.Gln1072Arg)
c.3254A>G (p.Gln1085Arg)
c.3269A>G (p.Gln1090Arg)
n.4017A>G
c.3275A>G (p.Gln1092Arg)
c.3197A>G (p.Gln1066Arg)
c.3167A>G (p.Gln1056Arg)
c.3467A>G (p.Gln1156Arg)
c.3476A>G (p.Gln1159Arg)
c.2822A>G (p.Gln941Arg)
c.3266A>G (p.Gln1089Arg)
9g.135786351A>TCA375491739KCNT1c.3332A>T (p.Gln1111Leu)
c.3173A>T (p.Gln1058Leu)
c.3080A>T (p.Gln1027Leu)
c.3089A>T (p.Gln1030Leu)
c.3233A>T (p.Gln1078Leu)
c.*2942A>T (n.*2942A>T)
c.3215A>T (p.Gln1072Leu)
c.3254A>T (p.Gln1085Leu)
c.3269A>T (p.Gln1090Leu)
n.4017A>T
c.3275A>T (p.Gln1092Leu)
c.3197A>T (p.Gln1066Leu)
c.3167A>T (p.Gln1056Leu)
c.3467A>T (p.Gln1156Leu)
c.3476A>T (p.Gln1159Leu)
c.2822A>T (p.Gln941Leu)
c.3266A>T (p.Gln1089Leu)
9g.135786352G>ACA201424129KCNT1c.3333G>A (p.Gln1111=)
c.3174G>A (p.Gln1058=)
c.3081G>A (p.Gln1027=)
c.3090G>A (p.Gln1030=)
c.3234G>A (p.Gln1078=)
c.*2943G>A (n.*2943G>A)
c.3216G>A (p.Gln1072=)
c.3255G>A (p.Gln1085=)
c.3270G>A (p.Gln1090=)
n.4018G>A
c.3276G>A (p.Gln1092=)
c.3198G>A (p.Gln1066=)
c.3168G>A (p.Gln1056=)
c.3468G>A (p.Gln1156=)
c.3477G>A (p.Gln1159=)
c.2823G>A (p.Gln941=)
c.3267G>A (p.Gln1089=)
 ClinVar dbSNP
9g.135786352G>CCA375491740KCNT1c.3333G>C (p.Gln1111His)
c.3174G>C (p.Gln1058His)
c.3081G>C (p.Gln1027His)
c.3090G>C (p.Gln1030His)
c.3234G>C (p.Gln1078His)
c.*2943G>C (n.*2943G>C)
c.3216G>C (p.Gln1072His)
c.3255G>C (p.Gln1085His)
c.3270G>C (p.Gln1090His)
n.4018G>C
c.3276G>C (p.Gln1092His)
c.3198G>C (p.Gln1066His)
c.3168G>C (p.Gln1056His)
c.3468G>C (p.Gln1156His)
c.3477G>C (p.Gln1159His)
c.2823G>C (p.Gln941His)
c.3267G>C (p.Gln1089His)
9g.135786352G=CA1883888055KCNT1c.3333G= (p.Gln1111=)
c.3174G= (p.Gln1058=)
c.3081G= (p.Gln1027=)
c.3090G= (p.Gln1030=)
c.3234G= (p.Gln1078=)
c.*2943G= (n.*2943G=)
c.3216G= (p.Gln1072=)
c.3255G= (p.Gln1085=)
c.3270G= (p.Gln1090=)
n.4018G=
c.3276G= (p.Gln1092=)
c.3198G= (p.Gln1066=)
c.3168G= (p.Gln1056=)
c.3468G= (p.Gln1156=)
c.3477G= (p.Gln1159=)
c.2823G= (p.Gln941=)
c.3267G= (p.Gln1089=)
9g.135786352G>TCA375491741KCNT1c.3333G>T (p.Gln1111His)
c.3174G>T (p.Gln1058His)
c.3081G>T (p.Gln1027His)
c.3090G>T (p.Gln1030His)
c.3234G>T (p.Gln1078His)
c.*2943G>T (n.*2943G>T)
c.3216G>T (p.Gln1072His)
c.3255G>T (p.Gln1085His)
c.3270G>T (p.Gln1090His)
n.4018G>T
c.3276G>T (p.Gln1092His)
c.3198G>T (p.Gln1066His)
c.3168G>T (p.Gln1056His)
c.3468G>T (p.Gln1156His)
c.3477G>T (p.Gln1159His)
c.2823G>T (p.Gln941His)
c.3267G>T (p.Gln1089His)
9g.135786353T>ACA375491742KCNT1c.3334T>A (p.Trp1112Arg)
c.3175T>A (p.Trp1059Arg)
c.3082T>A (p.Trp1028Arg)
c.3091T>A (p.Trp1031Arg)
c.3235T>A (p.Trp1079Arg)
c.*2944T>A (n.*2944T>A)
c.3217T>A (p.Trp1073Arg)
c.3256T>A (p.Trp1086Arg)
c.3271T>A (p.Trp1091Arg)
n.4019T>A
c.3277T>A (p.Trp1093Arg)
c.3199T>A (p.Trp1067Arg)
c.3169T>A (p.Trp1057Arg)
c.3469T>A (p.Trp1157Arg)
c.3478T>A (p.Trp1160Arg)
c.2824T>A (p.Trp942Arg)
c.3268T>A (p.Trp1090Arg)
9g.135786353T>CCA375491744KCNT1c.3334T>C (p.Trp1112Arg)
c.3175T>C (p.Trp1059Arg)
c.3082T>C (p.Trp1028Arg)
c.3091T>C (p.Trp1031Arg)
c.3235T>C (p.Trp1079Arg)
c.*2944T>C (n.*2944T>C)
c.3217T>C (p.Trp1073Arg)
c.3256T>C (p.Trp1086Arg)
c.3271T>C (p.Trp1091Arg)
n.4019T>C
c.3277T>C (p.Trp1093Arg)
c.3199T>C (p.Trp1067Arg)
c.3169T>C (p.Trp1057Arg)
c.3469T>C (p.Trp1157Arg)
c.3478T>C (p.Trp1160Arg)
c.2824T>C (p.Trp942Arg)
c.3268T>C (p.Trp1090Arg)
 dbSNP gnomAD v2
9g.135786353T>GCA375491743KCNT1c.3334T>G (p.Trp1112Gly)
c.3175T>G (p.Trp1059Gly)
c.3082T>G (p.Trp1028Gly)
c.3091T>G (p.Trp1031Gly)
c.3235T>G (p.Trp1079Gly)
c.*2944T>G (n.*2944T>G)
c.3217T>G (p.Trp1073Gly)
c.3256T>G (p.Trp1086Gly)
c.3271T>G (p.Trp1091Gly)
n.4019T>G
c.3277T>G (p.Trp1093Gly)
c.3199T>G (p.Trp1067Gly)
c.3169T>G (p.Trp1057Gly)
c.3469T>G (p.Trp1157Gly)
c.3478T>G (p.Trp1160Gly)
c.2824T>G (p.Trp942Gly)
c.3268T>G (p.Trp1090Gly)
9g.135786353T=CA1883888065KCNT1c.3334T= (p.Trp1112=)
c.3175T= (p.Trp1059=)
c.3082T= (p.Trp1028=)
c.3091T= (p.Trp1031=)
c.3235T= (p.Trp1079=)
c.*2944T= (n.*2944T=)
c.3217T= (p.Trp1073=)
c.3256T= (p.Trp1086=)
c.3271T= (p.Trp1091=)
n.4019T=
c.3277T= (p.Trp1093=)
c.3199T= (p.Trp1067=)
c.3169T= (p.Trp1057=)
c.3469T= (p.Trp1157=)
c.3478T= (p.Trp1160=)
c.2824T= (p.Trp942=)
c.3268T= (p.Trp1090=)
9g.135786354G>ACA375491745KCNT1c.3335G>A (p.Trp1112Ter)
c.3176G>A (p.Trp1059Ter)
c.3083G>A (p.Trp1028Ter)
c.3092G>A (p.Trp1031Ter)
c.3236G>A (p.Trp1079Ter)
c.*2945G>A (n.*2945G>A)
c.3218G>A (p.Trp1073Ter)
c.3257G>A (p.Trp1086Ter)
c.3272G>A (p.Trp1091Ter)
n.4020G>A
c.3278G>A (p.Trp1093Ter)
c.3200G>A (p.Trp1067Ter)
c.3170G>A (p.Trp1057Ter)
c.3470G>A (p.Trp1157Ter)
c.3479G>A (p.Trp1160Ter)
c.2825G>A (p.Trp942Ter)
c.3269G>A (p.Trp1090Ter)
 gnomAD v4
9g.135786354G>CCA375491746KCNT1c.3335G>C (p.Trp1112Ser)
c.3176G>C (p.Trp1059Ser)
c.3083G>C (p.Trp1028Ser)
c.3092G>C (p.Trp1031Ser)
c.3236G>C (p.Trp1079Ser)
c.*2945G>C (n.*2945G>C)
c.3218G>C (p.Trp1073Ser)
c.3257G>C (p.Trp1086Ser)
c.3272G>C (p.Trp1091Ser)
n.4020G>C
c.3278G>C (p.Trp1093Ser)
c.3200G>C (p.Trp1067Ser)
c.3170G>C (p.Trp1057Ser)
c.3470G>C (p.Trp1157Ser)
c.3479G>C (p.Trp1160Ser)
c.2825G>C (p.Trp942Ser)
c.3269G>C (p.Trp1090Ser)
9g.135786354G>TCA375491747KCNT1c.3335G>T (p.Trp1112Leu)
c.3176G>T (p.Trp1059Leu)
c.3083G>T (p.Trp1028Leu)
c.3092G>T (p.Trp1031Leu)
c.3236G>T (p.Trp1079Leu)
c.*2945G>T (n.*2945G>T)
c.3218G>T (p.Trp1073Leu)
c.3257G>T (p.Trp1086Leu)
c.3272G>T (p.Trp1091Leu)
n.4020G>T
c.3278G>T (p.Trp1093Leu)
c.3200G>T (p.Trp1067Leu)
c.3170G>T (p.Trp1057Leu)
c.3470G>T (p.Trp1157Leu)
c.3479G>T (p.Trp1160Leu)
c.2825G>T (p.Trp942Leu)
c.3269G>T (p.Trp1090Leu)
9g.135786355G>ACA375491748KCNT1c.3336G>A (p.Trp1112Ter)
c.3177G>A (p.Trp1059Ter)
c.3084G>A (p.Trp1028Ter)
c.3093G>A (p.Trp1031Ter)
c.3237G>A (p.Trp1079Ter)
c.*2946G>A (n.*2946G>A)
c.3219G>A (p.Trp1073Ter)
c.3258G>A (p.Trp1086Ter)
c.3273G>A (p.Trp1091Ter)
n.4021G>A
c.3279G>A (p.Trp1093Ter)
c.3201G>A (p.Trp1067Ter)
c.3171G>A (p.Trp1057Ter)
c.3471G>A (p.Trp1157Ter)
c.3480G>A (p.Trp1160Ter)
c.2826G>A (p.Trp942Ter)
c.3270G>A (p.Trp1090Ter)
9g.135786355G>CCA375491749KCNT1c.3336G>C (p.Trp1112Cys)
c.3177G>C (p.Trp1059Cys)
c.3084G>C (p.Trp1028Cys)
c.3093G>C (p.Trp1031Cys)
c.3237G>C (p.Trp1079Cys)
c.*2946G>C (n.*2946G>C)
c.3219G>C (p.Trp1073Cys)
c.3258G>C (p.Trp1086Cys)
c.3273G>C (p.Trp1091Cys)
n.4021G>C
c.3279G>C (p.Trp1093Cys)
c.3201G>C (p.Trp1067Cys)
c.3171G>C (p.Trp1057Cys)
c.3471G>C (p.Trp1157Cys)
c.3480G>C (p.Trp1160Cys)
c.2826G>C (p.Trp942Cys)
c.3270G>C (p.Trp1090Cys)
9g.135786355G>TCA375491750KCNT1c.3336G>T (p.Trp1112Cys)
c.3177G>T (p.Trp1059Cys)
c.3084G>T (p.Trp1028Cys)
c.3093G>T (p.Trp1031Cys)
c.3237G>T (p.Trp1079Cys)
c.*2946G>T (n.*2946G>T)
c.3219G>T (p.Trp1073Cys)
c.3258G>T (p.Trp1086Cys)
c.3273G>T (p.Trp1091Cys)
n.4021G>T
c.3279G>T (p.Trp1093Cys)
c.3201G>T (p.Trp1067Cys)
c.3171G>T (p.Trp1057Cys)
c.3471G>T (p.Trp1157Cys)
c.3480G>T (p.Trp1160Cys)
c.2826G>T (p.Trp942Cys)
c.3270G>T (p.Trp1090Cys)
 gnomAD v4
9g.135786356G>ACA375491751KCNT1c.3337G>A (p.Ala1113Thr)
c.3178G>A (p.Ala1060Thr)
c.3085G>A (p.Ala1029Thr)
c.3094G>A (p.Ala1032Thr)
c.3238G>A (p.Ala1080Thr)
c.*2947G>A (n.*2947G>A)
c.3220G>A (p.Ala1074Thr)
c.3259G>A (p.Ala1087Thr)
c.3274G>A (p.Ala1092Thr)
n.4022G>A
c.3280G>A (p.Ala1094Thr)
c.3202G>A (p.Ala1068Thr)
c.3172G>A (p.Ala1058Thr)
c.3472G>A (p.Ala1158Thr)
c.3481G>A (p.Ala1161Thr)
c.2827G>A (p.Ala943Thr)
c.3271G>A (p.Ala1091Thr)
 gnomAD v4
9g.135786356G>CCA375491752KCNT1c.3337G>C (p.Ala1113Pro)
c.3178G>C (p.Ala1060Pro)
c.3085G>C (p.Ala1029Pro)
c.3094G>C (p.Ala1032Pro)
c.3238G>C (p.Ala1080Pro)
c.*2947G>C (n.*2947G>C)
c.3220G>C (p.Ala1074Pro)
c.3259G>C (p.Ala1087Pro)
c.3274G>C (p.Ala1092Pro)
n.4022G>C
c.3280G>C (p.Ala1094Pro)
c.3202G>C (p.Ala1068Pro)
c.3172G>C (p.Ala1058Pro)
c.3472G>C (p.Ala1158Pro)
c.3481G>C (p.Ala1161Pro)
c.2827G>C (p.Ala943Pro)
c.3271G>C (p.Ala1091Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135786356G=CA1883888068KCNT1c.3337G= (p.Ala1113=)
c.3178G= (p.Ala1060=)
c.3085G= (p.Ala1029=)
c.3094G= (p.Ala1032=)
c.3238G= (p.Ala1080=)
c.*2947G= (n.*2947G=)
c.3220G= (p.Ala1074=)
c.3259G= (p.Ala1087=)
c.3274G= (p.Ala1092=)
n.4022G=
c.3280G= (p.Ala1094=)
c.3202G= (p.Ala1068=)
c.3172G= (p.Ala1058=)
c.3472G= (p.Ala1158=)
c.3481G= (p.Ala1161=)
c.2827G= (p.Ala943=)
c.3271G= (p.Ala1091=)
9g.135786356G>TCA375491753KCNT1c.3337G>T (p.Ala1113Ser)
c.3178G>T (p.Ala1060Ser)
c.3085G>T (p.Ala1029Ser)
c.3094G>T (p.Ala1032Ser)
c.3238G>T (p.Ala1080Ser)
c.*2947G>T (n.*2947G>T)
c.3220G>T (p.Ala1074Ser)
c.3259G>T (p.Ala1087Ser)
c.3274G>T (p.Ala1092Ser)
n.4022G>T
c.3280G>T (p.Ala1094Ser)
c.3202G>T (p.Ala1068Ser)
c.3172G>T (p.Ala1058Ser)
c.3472G>T (p.Ala1158Ser)
c.3481G>T (p.Ala1161Ser)
c.2827G>T (p.Ala943Ser)
c.3271G>T (p.Ala1091Ser)
 dbSNP
9g.135786357C>ACA375491754KCNT1c.3338C>A (p.Ala1113Asp)
c.3179C>A (p.Ala1060Asp)
c.3086C>A (p.Ala1029Asp)
c.3095C>A (p.Ala1032Asp)
c.3239C>A (p.Ala1080Asp)
c.*2948C>A (n.*2948C>A)
c.3221C>A (p.Ala1074Asp)
c.3260C>A (p.Ala1087Asp)
c.3275C>A (p.Ala1092Asp)
n.4023C>A
c.3281C>A (p.Ala1094Asp)
c.3203C>A (p.Ala1068Asp)
c.3173C>A (p.Ala1058Asp)
c.3473C>A (p.Ala1158Asp)
c.3482C>A (p.Ala1161Asp)
c.2828C>A (p.Ala943Asp)
c.3272C>A (p.Ala1091Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135786357C=CA1883888078KCNT1c.3338C= (p.Ala1113=)
c.3179C= (p.Ala1060=)
c.3086C= (p.Ala1029=)
c.3095C= (p.Ala1032=)
c.3239C= (p.Ala1080=)
c.*2948C= (n.*2948C=)
c.3221C= (p.Ala1074=)
c.3260C= (p.Ala1087=)
c.3275C= (p.Ala1092=)
n.4023C=
c.3281C= (p.Ala1094=)
c.3203C= (p.Ala1068=)
c.3173C= (p.Ala1058=)
c.3473C= (p.Ala1158=)
c.3482C= (p.Ala1161=)
c.2828C= (p.Ala943=)
c.3272C= (p.Ala1091=)
9g.135786357C>GCA375491755KCNT1c.3338C>G (p.Ala1113Gly)
c.3179C>G (p.Ala1060Gly)
c.3086C>G (p.Ala1029Gly)
c.3095C>G (p.Ala1032Gly)
c.3239C>G (p.Ala1080Gly)
c.*2948C>G (n.*2948C>G)
c.3221C>G (p.Ala1074Gly)
c.3260C>G (p.Ala1087Gly)
c.3275C>G (p.Ala1092Gly)
n.4023C>G
c.3281C>G (p.Ala1094Gly)
c.3203C>G (p.Ala1068Gly)
c.3173C>G (p.Ala1058Gly)
c.3473C>G (p.Ala1158Gly)
c.3482C>G (p.Ala1161Gly)
c.2828C>G (p.Ala943Gly)
c.3272C>G (p.Ala1091Gly)
9g.135786357C>TCA375491756KCNT1c.3338C>T (p.Ala1113Val)
c.3179C>T (p.Ala1060Val)
c.3086C>T (p.Ala1029Val)
c.3095C>T (p.Ala1032Val)
c.3239C>T (p.Ala1080Val)
c.*2948C>T (n.*2948C>T)
c.3221C>T (p.Ala1074Val)
c.3260C>T (p.Ala1087Val)
c.3275C>T (p.Ala1092Val)
n.4023C>T
c.3281C>T (p.Ala1094Val)
c.3203C>T (p.Ala1068Val)
c.3173C>T (p.Ala1058Val)
c.3473C>T (p.Ala1158Val)
c.3482C>T (p.Ala1161Val)
c.2828C>T (p.Ala943Val)
c.3272C>T (p.Ala1091Val)
 dbSNP gnomAD v3 gnomAD v4
9g.135786358C>ACA467821246KCNT1c.3339C>A (p.Ala1113=)
c.3180C>A (p.Ala1060=)
c.3087C>A (p.Ala1029=)
c.3096C>A (p.Ala1032=)
c.3240C>A (p.Ala1080=)
c.*2949C>A (n.*2949C>A)
c.3222C>A (p.Ala1074=)
c.3261C>A (p.Ala1087=)
c.3276C>A (p.Ala1092=)
n.4024C>A
c.3282C>A (p.Ala1094=)
c.3204C>A (p.Ala1068=)
c.3174C>A (p.Ala1058=)
c.3474C>A (p.Ala1158=)
c.3483C>A (p.Ala1161=)
c.2829C>A (p.Ala943=)
c.3273C>A (p.Ala1091=)
 ClinVar gnomAD v4
9g.135786358C>GCA467821244KCNT1c.3339C>G (p.Ala1113=)
c.3180C>G (p.Ala1060=)
c.3087C>G (p.Ala1029=)
c.3096C>G (p.Ala1032=)
c.3240C>G (p.Ala1080=)
c.*2949C>G (n.*2949C>G)
c.3222C>G (p.Ala1074=)
c.3261C>G (p.Ala1087=)
c.3276C>G (p.Ala1092=)
n.4024C>G
c.3282C>G (p.Ala1094=)
c.3204C>G (p.Ala1068=)
c.3174C>G (p.Ala1058=)
c.3474C>G (p.Ala1158=)
c.3483C>G (p.Ala1161=)
c.2829C>G (p.Ala943=)
c.3273C>G (p.Ala1091=)
9g.135786358C>TCA467821245KCNT1c.3339C>T (p.Ala1113=)
c.3180C>T (p.Ala1060=)
c.3087C>T (p.Ala1029=)
c.3096C>T (p.Ala1032=)
c.3240C>T (p.Ala1080=)
c.*2949C>T (n.*2949C>T)
c.3222C>T (p.Ala1074=)
c.3261C>T (p.Ala1087=)
c.3276C>T (p.Ala1092=)
n.4024C>T
c.3282C>T (p.Ala1094=)
c.3204C>T (p.Ala1068=)
c.3174C>T (p.Ala1058=)
c.3474C>T (p.Ala1158=)
c.3483C>T (p.Ala1161=)
c.2829C>T (p.Ala943=)
c.3273C>T (p.Ala1091=)
 gnomAD v4
9g.135786359C>ACA467821247KCNT1c.3340C>A (p.Arg1114=)
c.3181C>A (p.Arg1061=)
c.3088C>A (p.Arg1030=)
c.3097C>A (p.Arg1033=)
c.3241C>A (p.Arg1081=)
c.*2950C>A (n.*2950C>A)
c.3223C>A (p.Arg1075=)
c.3262C>A (p.Arg1088=)
c.3277C>A (p.Arg1093=)
n.4025C>A
c.3283C>A (p.Arg1095=)
c.3205C>A (p.Arg1069=)
c.3175C>A (p.Arg1059=)
c.3475C>A (p.Arg1159=)
c.3484C>A (p.Arg1162=)
c.2830C>A (p.Arg944=)
c.3274C>A (p.Arg1092=)
 gnomAD v4
9g.135786359C=CA1883888082KCNT1c.3340C= (p.Arg1114=)
c.3181C= (p.Arg1061=)
c.3088C= (p.Arg1030=)
c.3097C= (p.Arg1033=)
c.3241C= (p.Arg1081=)
c.*2950C= (n.*2950C=)
c.3223C= (p.Arg1075=)
c.3262C= (p.Arg1088=)
c.3277C= (p.Arg1093=)
n.4025C=
c.3283C= (p.Arg1095=)
c.3205C= (p.Arg1069=)
c.3175C= (p.Arg1059=)
c.3475C= (p.Arg1159=)
c.3484C= (p.Arg1162=)
c.2830C= (p.Arg944=)
c.3274C= (p.Arg1092=)
9g.135786359C>GCA375491757KCNT1c.3340C>G (p.Arg1114Gly)
c.3181C>G (p.Arg1061Gly)
c.3088C>G (p.Arg1030Gly)
c.3097C>G (p.Arg1033Gly)
c.3241C>G (p.Arg1081Gly)
c.*2950C>G (n.*2950C>G)
c.3223C>G (p.Arg1075Gly)
c.3262C>G (p.Arg1088Gly)
c.3277C>G (p.Arg1093Gly)
n.4025C>G
c.3283C>G (p.Arg1095Gly)
c.3205C>G (p.Arg1069Gly)
c.3175C>G (p.Arg1059Gly)
c.3475C>G (p.Arg1159Gly)
c.3484C>G (p.Arg1162Gly)
c.2830C>G (p.Arg944Gly)
c.3274C>G (p.Arg1092Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.135786359C>TCA205412KCNT1c.3340C>T (p.Arg1114Trp)
c.3181C>T (p.Arg1061Trp)
c.3088C>T (p.Arg1030Trp)
c.3097C>T (p.Arg1033Trp)
c.3241C>T (p.Arg1081Trp)
c.*2950C>T (n.*2950C>T)
c.3223C>T (p.Arg1075Trp)
c.3262C>T (p.Arg1088Trp)
c.3277C>T (p.Arg1093Trp)
n.4025C>T
c.3283C>T (p.Arg1095Trp)
c.3205C>T (p.Arg1069Trp)
c.3175C>T (p.Arg1059Trp)
c.3475C>T (p.Arg1159Trp)
c.3484C>T (p.Arg1162Trp)
c.2830C>T (p.Arg944Trp)
c.3274C>T (p.Arg1092Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786360G>ACA5327785KCNT1c.3341G>A (p.Arg1114Gln)
c.3182G>A (p.Arg1061Gln)
c.3089G>A (p.Arg1030Gln)
c.3098G>A (p.Arg1033Gln)
c.3242G>A (p.Arg1081Gln)
c.*2951G>A (n.*2951G>A)
c.3224G>A (p.Arg1075Gln)
c.3263G>A (p.Arg1088Gln)
c.3278G>A (p.Arg1093Gln)
n.4026G>A
c.3284G>A (p.Arg1095Gln)
c.3206G>A (p.Arg1069Gln)
c.3176G>A (p.Arg1059Gln)
c.3476G>A (p.Arg1159Gln)
c.3485G>A (p.Arg1162Gln)
c.2831G>A (p.Arg944Gln)
c.3275G>A (p.Arg1092Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786360G>CCA375491758KCNT1c.3341G>C (p.Arg1114Pro)
c.3182G>C (p.Arg1061Pro)
c.3089G>C (p.Arg1030Pro)
c.3098G>C (p.Arg1033Pro)
c.3242G>C (p.Arg1081Pro)
c.*2951G>C (n.*2951G>C)
c.3224G>C (p.Arg1075Pro)
c.3263G>C (p.Arg1088Pro)
c.3278G>C (p.Arg1093Pro)
n.4026G>C
c.3284G>C (p.Arg1095Pro)
c.3206G>C (p.Arg1069Pro)
c.3176G>C (p.Arg1059Pro)
c.3476G>C (p.Arg1159Pro)
c.3485G>C (p.Arg1162Pro)
c.2831G>C (p.Arg944Pro)
c.3275G>C (p.Arg1092Pro)
9g.135786360G=CA1883888094KCNT1c.3341G= (p.Arg1114=)
c.3182G= (p.Arg1061=)
c.3089G= (p.Arg1030=)
c.3098G= (p.Arg1033=)
c.3242G= (p.Arg1081=)
c.*2951G= (n.*2951G=)
c.3224G= (p.Arg1075=)
c.3263G= (p.Arg1088=)
c.3278G= (p.Arg1093=)
n.4026G=
c.3284G= (p.Arg1095=)
c.3206G= (p.Arg1069=)
c.3176G= (p.Arg1059=)
c.3476G= (p.Arg1159=)
c.3485G= (p.Arg1162=)
c.2831G= (p.Arg944=)
c.3275G= (p.Arg1092=)
9g.135786360G>TCA375491759KCNT1c.3341G>T (p.Arg1114Leu)
c.3182G>T (p.Arg1061Leu)
c.3089G>T (p.Arg1030Leu)
c.3098G>T (p.Arg1033Leu)
c.3242G>T (p.Arg1081Leu)
c.*2951G>T (n.*2951G>T)
c.3224G>T (p.Arg1075Leu)
c.3263G>T (p.Arg1088Leu)
c.3278G>T (p.Arg1093Leu)
n.4026G>T
c.3284G>T (p.Arg1095Leu)
c.3206G>T (p.Arg1069Leu)
c.3176G>T (p.Arg1059Leu)
c.3476G>T (p.Arg1159Leu)
c.3485G>T (p.Arg1162Leu)
c.2831G>T (p.Arg944Leu)
c.3275G>T (p.Arg1092Leu)
 gnomAD v4
9g.135786361delCA2579511469KCNT1c.3342del (p.Arg1115GlyfsTer2)
c.3183del (p.Arg1062GlyfsTer2)
c.3090del (p.Arg1031GlyfsTer2)
c.3099del (p.Arg1034GlyfsTer2)
c.3243del (p.Arg1082GlyfsTer2)
c.*2952del (n.*2952del)
c.3225del (p.Arg1076GlyfsTer2)
c.3264del (p.Arg1089GlyfsTer2)
c.3279del (p.Arg1094GlyfsTer2)
n.4027del
c.3285del (p.Arg1096GlyfsTer2)
c.3207del (p.Arg1070GlyfsTer2)
c.3177del (p.Arg1060GlyfsTer2)
c.3477del (p.Arg1160GlyfsTer2)
c.3486del (p.Arg1163GlyfsTer2)
c.2832del (p.Arg945GlyfsTer2)
c.3276del (p.Arg1093GlyfsTer2)
9g.135786361G>ACA467821250KCNT1c.3342G>A (p.Arg1114=)
c.3183G>A (p.Arg1061=)
c.3090G>A (p.Arg1030=)
c.3099G>A (p.Arg1033=)
c.3243G>A (p.Arg1081=)
c.*2952G>A (n.*2952G>A)
c.3225G>A (p.Arg1075=)
c.3264G>A (p.Arg1088=)
c.3279G>A (p.Arg1093=)
n.4027G>A
c.3285G>A (p.Arg1095=)
c.3207G>A (p.Arg1069=)
c.3177G>A (p.Arg1059=)
c.3477G>A (p.Arg1159=)
c.3486G>A (p.Arg1162=)
c.2832G>A (p.Arg944=)
c.3276G>A (p.Arg1092=)
9g.135786361G>CCA467821249KCNT1c.3342G>C (p.Arg1114=)
c.3183G>C (p.Arg1061=)
c.3090G>C (p.Arg1030=)
c.3099G>C (p.Arg1033=)
c.3243G>C (p.Arg1081=)
c.*2952G>C (n.*2952G>C)
c.3225G>C (p.Arg1075=)
c.3264G>C (p.Arg1088=)
c.3279G>C (p.Arg1093=)
n.4027G>C
c.3285G>C (p.Arg1095=)
c.3207G>C (p.Arg1069=)
c.3177G>C (p.Arg1059=)
c.3477G>C (p.Arg1159=)
c.3486G>C (p.Arg1162=)
c.2832G>C (p.Arg944=)
c.3276G>C (p.Arg1092=)
 dbSNP
9g.135786361G=CA1883888097KCNT1c.3342G= (p.Arg1114=)
c.3183G= (p.Arg1061=)
c.3090G= (p.Arg1030=)
c.3099G= (p.Arg1033=)
c.3243G= (p.Arg1081=)
c.*2952G= (n.*2952G=)
c.3225G= (p.Arg1075=)
c.3264G= (p.Arg1088=)
c.3279G= (p.Arg1093=)
n.4027G=
c.3285G= (p.Arg1095=)
c.3207G= (p.Arg1069=)
c.3177G= (p.Arg1059=)
c.3477G= (p.Arg1159=)
c.3486G= (p.Arg1162=)
c.2832G= (p.Arg944=)
c.3276G= (p.Arg1092=)
9g.135786361G>TCA467821248KCNT1c.3342G>T (p.Arg1114=)
c.3183G>T (p.Arg1061=)
c.3090G>T (p.Arg1030=)
c.3099G>T (p.Arg1033=)
c.3243G>T (p.Arg1081=)
c.*2952G>T (n.*2952G>T)
c.3225G>T (p.Arg1075=)
c.3264G>T (p.Arg1088=)
c.3279G>T (p.Arg1093=)
n.4027G>T
c.3285G>T (p.Arg1095=)
c.3207G>T (p.Arg1069=)
c.3177G>T (p.Arg1059=)
c.3477G>T (p.Arg1159=)
c.3486G>T (p.Arg1162=)
c.2832G>T (p.Arg944=)
c.3276G>T (p.Arg1092=)
9g.135786362A>CCA467821251KCNT1c.3343A>C (p.Arg1115=)
c.3184A>C (p.Arg1062=)
c.3091A>C (p.Arg1031=)
c.3100A>C (p.Arg1034=)
c.3244A>C (p.Arg1082=)
c.*2953A>C (n.*2953A>C)
c.3226A>C (p.Arg1076=)
c.3265A>C (p.Arg1089=)
c.3280A>C (p.Arg1094=)
n.4028A>C
c.3286A>C (p.Arg1096=)
c.3208A>C (p.Arg1070=)
c.3178A>C (p.Arg1060=)
c.3478A>C (p.Arg1160=)
c.3487A>C (p.Arg1163=)
c.2833A>C (p.Arg945=)
c.3277A>C (p.Arg1093=)
9g.135786362A>GCA375491760KCNT1c.3343A>G (p.Arg1115Gly)
c.3184A>G (p.Arg1062Gly)
c.3091A>G (p.Arg1031Gly)
c.3100A>G (p.Arg1034Gly)
c.3244A>G (p.Arg1082Gly)
c.*2953A>G (n.*2953A>G)
c.3226A>G (p.Arg1076Gly)
c.3265A>G (p.Arg1089Gly)
c.3280A>G (p.Arg1094Gly)
n.4028A>G
c.3286A>G (p.Arg1096Gly)
c.3208A>G (p.Arg1070Gly)
c.3178A>G (p.Arg1060Gly)
c.3478A>G (p.Arg1160Gly)
c.3487A>G (p.Arg1163Gly)
c.2833A>G (p.Arg945Gly)
c.3277A>G (p.Arg1093Gly)
 gnomAD v4
9g.135786362A>TCA375491761KCNT1c.3343A>T (p.Arg1115Trp)
c.3184A>T (p.Arg1062Trp)
c.3091A>T (p.Arg1031Trp)
c.3100A>T (p.Arg1034Trp)
c.3244A>T (p.Arg1082Trp)
c.*2953A>T (n.*2953A>T)
c.3226A>T (p.Arg1076Trp)
c.3265A>T (p.Arg1089Trp)
c.3280A>T (p.Arg1094Trp)
n.4028A>T
c.3286A>T (p.Arg1096Trp)
c.3208A>T (p.Arg1070Trp)
c.3178A>T (p.Arg1060Trp)
c.3478A>T (p.Arg1160Trp)
c.3487A>T (p.Arg1163Trp)
c.2833A>T (p.Arg945Trp)
c.3277A>T (p.Arg1093Trp)
9g.135786363G>ACA375491762KCNT1c.3344G>A (p.Arg1115Lys)
c.3185G>A (p.Arg1062Lys)
c.3092G>A (p.Arg1031Lys)
c.3101G>A (p.Arg1034Lys)
c.3245G>A (p.Arg1082Lys)
c.*2954G>A (n.*2954G>A)
c.3227G>A (p.Arg1076Lys)
c.3266G>A (p.Arg1089Lys)
c.3281G>A (p.Arg1094Lys)
n.4029G>A
c.3287G>A (p.Arg1096Lys)
c.3209G>A (p.Arg1070Lys)
c.3179G>A (p.Arg1060Lys)
c.3479G>A (p.Arg1160Lys)
c.3488G>A (p.Arg1163Lys)
c.2834G>A (p.Arg945Lys)
c.3278G>A (p.Arg1093Lys)
9g.135786363G>CCA375491763KCNT1c.3344G>C (p.Arg1115Thr)
c.3185G>C (p.Arg1062Thr)
c.3092G>C (p.Arg1031Thr)
c.3101G>C (p.Arg1034Thr)
c.3245G>C (p.Arg1082Thr)
c.*2954G>C (n.*2954G>C)
c.3227G>C (p.Arg1076Thr)
c.3266G>C (p.Arg1089Thr)
c.3281G>C (p.Arg1094Thr)
n.4029G>C
c.3287G>C (p.Arg1096Thr)
c.3209G>C (p.Arg1070Thr)
c.3179G>C (p.Arg1060Thr)
c.3479G>C (p.Arg1160Thr)
c.3488G>C (p.Arg1163Thr)
c.2834G>C (p.Arg945Thr)
c.3278G>C (p.Arg1093Thr)
9g.135786363G>TCA375491764KCNT1c.3344G>T (p.Arg1115Met)
c.3185G>T (p.Arg1062Met)
c.3092G>T (p.Arg1031Met)
c.3101G>T (p.Arg1034Met)
c.3245G>T (p.Arg1082Met)
c.*2954G>T (n.*2954G>T)
c.3227G>T (p.Arg1076Met)
c.3266G>T (p.Arg1089Met)
c.3281G>T (p.Arg1094Met)
n.4029G>T
c.3287G>T (p.Arg1096Met)
c.3209G>T (p.Arg1070Met)
c.3179G>T (p.Arg1060Met)
c.3479G>T (p.Arg1160Met)
c.3488G>T (p.Arg1163Met)
c.2834G>T (p.Arg945Met)
c.3278G>T (p.Arg1093Met)
 gnomAD v4
9g.135786364G>ACA467821252KCNT1c.3345G>A (p.Arg1115=)
c.3186G>A (p.Arg1062=)
c.3093G>A (p.Arg1031=)
c.3102G>A (p.Arg1034=)
c.3246G>A (p.Arg1082=)
c.*2955G>A (n.*2955G>A)
c.3228G>A (p.Arg1076=)
c.3267G>A (p.Arg1089=)
c.3282G>A (p.Arg1094=)
n.4030G>A
c.3288G>A (p.Arg1096=)
c.3210G>A (p.Arg1070=)
c.3180G>A (p.Arg1060=)
c.3480G>A (p.Arg1160=)
c.3489G>A (p.Arg1163=)
c.2835G>A (p.Arg945=)
c.3279G>A (p.Arg1093=)
9g.135786364G>CCA375491765KCNT1c.3345G>C (p.Arg1115Ser)
c.3186G>C (p.Arg1062Ser)
c.3093G>C (p.Arg1031Ser)
c.3102G>C (p.Arg1034Ser)
c.3246G>C (p.Arg1082Ser)
c.*2955G>C (n.*2955G>C)
c.3228G>C (p.Arg1076Ser)
c.3267G>C (p.Arg1089Ser)
c.3282G>C (p.Arg1094Ser)
n.4030G>C
c.3288G>C (p.Arg1096Ser)
c.3210G>C (p.Arg1070Ser)
c.3180G>C (p.Arg1060Ser)
c.3480G>C (p.Arg1160Ser)
c.3489G>C (p.Arg1163Ser)
c.2835G>C (p.Arg945Ser)
c.3279G>C (p.Arg1093Ser)
9g.135786364G>TCA375491766KCNT1c.3345G>T (p.Arg1115Ser)
c.3186G>T (p.Arg1062Ser)
c.3093G>T (p.Arg1031Ser)
c.3102G>T (p.Arg1034Ser)
c.3246G>T (p.Arg1082Ser)
c.*2955G>T (n.*2955G>T)
c.3228G>T (p.Arg1076Ser)
c.3267G>T (p.Arg1089Ser)
c.3282G>T (p.Arg1094Ser)
n.4030G>T
c.3288G>T (p.Arg1096Ser)
c.3210G>T (p.Arg1070Ser)
c.3180G>T (p.Arg1060Ser)
c.3480G>T (p.Arg1160Ser)
c.3489G>T (p.Arg1163Ser)
c.2835G>T (p.Arg945Ser)
c.3279G>T (p.Arg1093Ser)
 gnomAD v4
9g.135786365C>ACA201424185KCNT1c.3346C>A (p.Leu1116Met)
c.3187C>A (p.Leu1063Met)
c.3094C>A (p.Leu1032Met)
c.3103C>A (p.Leu1035Met)
c.3247C>A (p.Leu1083Met)
c.*2956C>A (n.*2956C>A)
c.3229C>A (p.Leu1077Met)
c.3268C>A (p.Leu1090Met)
c.3283C>A (p.Leu1095Met)
n.4031C>A
c.3289C>A (p.Leu1097Met)
c.3211C>A (p.Leu1071Met)
c.3181C>A (p.Leu1061Met)
c.3481C>A (p.Leu1161Met)
c.3490C>A (p.Leu1164Met)
c.2836C>A (p.Leu946Met)
c.3280C>A (p.Leu1094Met)
 ClinVar dbSNP
9g.135786365C=CA1883888100KCNT1c.3346C= (p.Leu1116=)
c.3187C= (p.Leu1063=)
c.3094C= (p.Leu1032=)
c.3103C= (p.Leu1035=)
c.3247C= (p.Leu1083=)
c.*2956C= (n.*2956C=)
c.3229C= (p.Leu1077=)
c.3268C= (p.Leu1090=)
c.3283C= (p.Leu1095=)
n.4031C=
c.3289C= (p.Leu1097=)
c.3211C= (p.Leu1071=)
c.3181C= (p.Leu1061=)
c.3481C= (p.Leu1161=)
c.3490C= (p.Leu1164=)
c.2836C= (p.Leu946=)
c.3280C= (p.Leu1094=)
9g.135786365C>GCA375491767KCNT1c.3346C>G (p.Leu1116Val)
c.3187C>G (p.Leu1063Val)
c.3094C>G (p.Leu1032Val)
c.3103C>G (p.Leu1035Val)
c.3247C>G (p.Leu1083Val)
c.*2956C>G (n.*2956C>G)
c.3229C>G (p.Leu1077Val)
c.3268C>G (p.Leu1090Val)
c.3283C>G (p.Leu1095Val)
n.4031C>G
c.3289C>G (p.Leu1097Val)
c.3211C>G (p.Leu1071Val)
c.3181C>G (p.Leu1061Val)
c.3481C>G (p.Leu1161Val)
c.3490C>G (p.Leu1164Val)
c.2836C>G (p.Leu946Val)
c.3280C>G (p.Leu1094Val)
9g.135786365C>TCA467821253KCNT1c.3346C>T (p.Leu1116=)
c.3187C>T (p.Leu1063=)
c.3094C>T (p.Leu1032=)
c.3103C>T (p.Leu1035=)
c.3247C>T (p.Leu1083=)
c.*2956C>T (n.*2956C>T)
c.3229C>T (p.Leu1077=)
c.3268C>T (p.Leu1090=)
c.3283C>T (p.Leu1095=)
n.4031C>T
c.3289C>T (p.Leu1097=)
c.3211C>T (p.Leu1071=)
c.3181C>T (p.Leu1061=)
c.3481C>T (p.Leu1161=)
c.3490C>T (p.Leu1164=)
c.2836C>T (p.Leu946=)
c.3280C>T (p.Leu1094=)
9g.135786366T>ACA375491769KCNT1c.3347T>A (p.Leu1116Gln)
c.3188T>A (p.Leu1063Gln)
c.3095T>A (p.Leu1032Gln)
c.3104T>A (p.Leu1035Gln)
c.3248T>A (p.Leu1083Gln)
c.*2957T>A (n.*2957T>A)
c.3230T>A (p.Leu1077Gln)
c.3269T>A (p.Leu1090Gln)
c.3284T>A (p.Leu1095Gln)
n.4032T>A
c.3290T>A (p.Leu1097Gln)
c.3212T>A (p.Leu1071Gln)
c.3182T>A (p.Leu1061Gln)
c.3482T>A (p.Leu1161Gln)
c.3491T>A (p.Leu1164Gln)
c.2837T>A (p.Leu946Gln)
c.3281T>A (p.Leu1094Gln)
9g.135786366T>CCA375491770KCNT1c.3347T>C (p.Leu1116Pro)
c.3188T>C (p.Leu1063Pro)
c.3095T>C (p.Leu1032Pro)
c.3104T>C (p.Leu1035Pro)
c.3248T>C (p.Leu1083Pro)
c.*2957T>C (n.*2957T>C)
c.3230T>C (p.Leu1077Pro)
c.3269T>C (p.Leu1090Pro)
c.3284T>C (p.Leu1095Pro)
n.4032T>C
c.3290T>C (p.Leu1097Pro)
c.3212T>C (p.Leu1071Pro)
c.3182T>C (p.Leu1061Pro)
c.3482T>C (p.Leu1161Pro)
c.3491T>C (p.Leu1164Pro)
c.2837T>C (p.Leu946Pro)
c.3281T>C (p.Leu1094Pro)
9g.135786366T>GCA375491768KCNT1c.3347T>G (p.Leu1116Arg)
c.3188T>G (p.Leu1063Arg)
c.3095T>G (p.Leu1032Arg)
c.3104T>G (p.Leu1035Arg)
c.3248T>G (p.Leu1083Arg)
c.*2957T>G (n.*2957T>G)
c.3230T>G (p.Leu1077Arg)
c.3269T>G (p.Leu1090Arg)
c.3284T>G (p.Leu1095Arg)
n.4032T>G
c.3290T>G (p.Leu1097Arg)
c.3212T>G (p.Leu1071Arg)
c.3182T>G (p.Leu1061Arg)
c.3482T>G (p.Leu1161Arg)
c.3491T>G (p.Leu1164Arg)
c.2837T>G (p.Leu946Arg)
c.3281T>G (p.Leu1094Arg)
9g.135786367G>ACA467821254KCNT1c.3348G>A (p.Leu1116=)
c.3189G>A (p.Leu1063=)
c.3096G>A (p.Leu1032=)
c.3105G>A (p.Leu1035=)
c.3249G>A (p.Leu1083=)
c.*2958G>A (n.*2958G>A)
c.3231G>A (p.Leu1077=)
c.3270G>A (p.Leu1090=)
c.3285G>A (p.Leu1095=)
n.4033G>A
c.3291G>A (p.Leu1097=)
c.3213G>A (p.Leu1071=)
c.3183G>A (p.Leu1061=)
c.3483G>A (p.Leu1161=)
c.3492G>A (p.Leu1164=)
c.2838G>A (p.Leu946=)
c.3282G>A (p.Leu1094=)
 gnomAD v4
9g.135786367G>CCA467821255KCNT1c.3348G>C (p.Leu1116=)
c.3189G>C (p.Leu1063=)
c.3096G>C (p.Leu1032=)
c.3105G>C (p.Leu1035=)
c.3249G>C (p.Leu1083=)
c.*2958G>C (n.*2958G>C)
c.3231G>C (p.Leu1077=)
c.3270G>C (p.Leu1090=)
c.3285G>C (p.Leu1095=)
n.4033G>C
c.3291G>C (p.Leu1097=)
c.3213G>C (p.Leu1071=)
c.3183G>C (p.Leu1061=)
c.3483G>C (p.Leu1161=)
c.3492G>C (p.Leu1164=)
c.2838G>C (p.Leu946=)
c.3282G>C (p.Leu1094=)
9g.135786367G>TCA467821256KCNT1c.3348G>T (p.Leu1116=)
c.3189G>T (p.Leu1063=)
c.3096G>T (p.Leu1032=)
c.3105G>T (p.Leu1035=)
c.3249G>T (p.Leu1083=)
c.*2958G>T (n.*2958G>T)
c.3231G>T (p.Leu1077=)
c.3270G>T (p.Leu1090=)
c.3285G>T (p.Leu1095=)
n.4033G>T
c.3291G>T (p.Leu1097=)
c.3213G>T (p.Leu1071=)
c.3183G>T (p.Leu1061=)
c.3483G>T (p.Leu1161=)
c.3492G>T (p.Leu1164=)
c.2838G>T (p.Leu946=)
c.3282G>T (p.Leu1094=)
9g.135786368A>CCA375491771KCNT1c.3349A>C (p.Ser1117Arg)
c.3190A>C (p.Ser1064Arg)
c.3097A>C (p.Ser1033Arg)
c.3106A>C (p.Ser1036Arg)
c.3250A>C (p.Ser1084Arg)
c.*2959A>C (n.*2959A>C)
c.3232A>C (p.Ser1078Arg)
c.3271A>C (p.Ser1091Arg)
c.3286A>C (p.Ser1096Arg)
n.4034A>C
c.3292A>C (p.Ser1098Arg)
c.3214A>C (p.Ser1072Arg)
c.3184A>C (p.Ser1062Arg)
c.3484A>C (p.Ser1162Arg)
c.3493A>C (p.Ser1165Arg)
c.2839A>C (p.Ser947Arg)
c.3283A>C (p.Ser1095Arg)
9g.135786368A>GCA375491772KCNT1c.3349A>G (p.Ser1117Gly)
c.3190A>G (p.Ser1064Gly)
c.3097A>G (p.Ser1033Gly)
c.3106A>G (p.Ser1036Gly)
c.3250A>G (p.Ser1084Gly)
c.*2959A>G (n.*2959A>G)
c.3232A>G (p.Ser1078Gly)
c.3271A>G (p.Ser1091Gly)
c.3286A>G (p.Ser1096Gly)
n.4034A>G
c.3292A>G (p.Ser1098Gly)
c.3214A>G (p.Ser1072Gly)
c.3184A>G (p.Ser1062Gly)
c.3484A>G (p.Ser1162Gly)
c.3493A>G (p.Ser1165Gly)
c.2839A>G (p.Ser947Gly)
c.3283A>G (p.Ser1095Gly)
9g.135786368A>TCA375491773KCNT1c.3349A>T (p.Ser1117Cys)
c.3190A>T (p.Ser1064Cys)
c.3097A>T (p.Ser1033Cys)
c.3106A>T (p.Ser1036Cys)
c.3250A>T (p.Ser1084Cys)
c.*2959A>T (n.*2959A>T)
c.3232A>T (p.Ser1078Cys)
c.3271A>T (p.Ser1091Cys)
c.3286A>T (p.Ser1096Cys)
n.4034A>T
c.3292A>T (p.Ser1098Cys)
c.3214A>T (p.Ser1072Cys)
c.3184A>T (p.Ser1062Cys)
c.3484A>T (p.Ser1162Cys)
c.3493A>T (p.Ser1165Cys)
c.2839A>T (p.Ser947Cys)
c.3283A>T (p.Ser1095Cys)
 gnomAD v4
9g.135786369G>ACA375491774KCNT1c.3350G>A (p.Ser1117Asn)
c.3191G>A (p.Ser1064Asn)
c.3098G>A (p.Ser1033Asn)
c.3107G>A (p.Ser1036Asn)
c.3251G>A (p.Ser1084Asn)
c.*2960G>A (n.*2960G>A)
c.3233G>A (p.Ser1078Asn)
c.3272G>A (p.Ser1091Asn)
c.3287G>A (p.Ser1096Asn)
n.4035G>A
c.3293G>A (p.Ser1098Asn)
c.3215G>A (p.Ser1072Asn)
c.3185G>A (p.Ser1062Asn)
c.3485G>A (p.Ser1162Asn)
c.3494G>A (p.Ser1165Asn)
c.2840G>A (p.Ser947Asn)
c.3284G>A (p.Ser1095Asn)
 dbSNP gnomAD v2 gnomAD v4
9g.135786369G>CCA375491775KCNT1c.3350G>C (p.Ser1117Thr)
c.3191G>C (p.Ser1064Thr)
c.3098G>C (p.Ser1033Thr)
c.3107G>C (p.Ser1036Thr)
c.3251G>C (p.Ser1084Thr)
c.*2960G>C (n.*2960G>C)
c.3233G>C (p.Ser1078Thr)
c.3272G>C (p.Ser1091Thr)
c.3287G>C (p.Ser1096Thr)
n.4035G>C
c.3293G>C (p.Ser1098Thr)
c.3215G>C (p.Ser1072Thr)
c.3185G>C (p.Ser1062Thr)
c.3485G>C (p.Ser1162Thr)
c.3494G>C (p.Ser1165Thr)
c.2840G>C (p.Ser947Thr)
c.3284G>C (p.Ser1095Thr)
9g.135786369G=CA1883888103KCNT1c.3350G= (p.Ser1117=)
c.3191G= (p.Ser1064=)
c.3098G= (p.Ser1033=)
c.3107G= (p.Ser1036=)
c.3251G= (p.Ser1084=)
c.*2960G= (n.*2960G=)
c.3233G= (p.Ser1078=)
c.3272G= (p.Ser1091=)
c.3287G= (p.Ser1096=)
n.4035G=
c.3293G= (p.Ser1098=)
c.3215G= (p.Ser1072=)
c.3185G= (p.Ser1062=)
c.3485G= (p.Ser1162=)
c.3494G= (p.Ser1165=)
c.2840G= (p.Ser947=)
c.3284G= (p.Ser1095=)
9g.135786369G>TCA375491776KCNT1c.3350G>T (p.Ser1117Ile)
c.3191G>T (p.Ser1064Ile)
c.3098G>T (p.Ser1033Ile)
c.3107G>T (p.Ser1036Ile)
c.3251G>T (p.Ser1084Ile)
c.*2960G>T (n.*2960G>T)
c.3233G>T (p.Ser1078Ile)
c.3272G>T (p.Ser1091Ile)
c.3287G>T (p.Ser1096Ile)
n.4035G>T
c.3293G>T (p.Ser1098Ile)
c.3215G>T (p.Ser1072Ile)
c.3185G>T (p.Ser1062Ile)
c.3485G>T (p.Ser1162Ile)
c.3494G>T (p.Ser1165Ile)
c.2840G>T (p.Ser947Ile)
c.3284G>T (p.Ser1095Ile)
 gnomAD v4
9g.135786370C>ACA375491777KCNT1c.3351C>A (p.Ser1117Arg)
c.3192C>A (p.Ser1064Arg)
c.3099C>A (p.Ser1033Arg)
c.3108C>A (p.Ser1036Arg)
c.3252C>A (p.Ser1084Arg)
c.*2961C>A (n.*2961C>A)
c.3234C>A (p.Ser1078Arg)
c.3273C>A (p.Ser1091Arg)
c.3288C>A (p.Ser1096Arg)
n.4036C>A
c.3294C>A (p.Ser1098Arg)
c.3216C>A (p.Ser1072Arg)
c.3186C>A (p.Ser1062Arg)
c.3486C>A (p.Ser1162Arg)
c.3495C>A (p.Ser1165Arg)
c.2841C>A (p.Ser947Arg)
c.3285C>A (p.Ser1095Arg)
 gnomAD v4
9g.135786370C>GCA375491778KCNT1c.3351C>G (p.Ser1117Arg)
c.3192C>G (p.Ser1064Arg)
c.3099C>G (p.Ser1033Arg)
c.3108C>G (p.Ser1036Arg)
c.3252C>G (p.Ser1084Arg)
c.*2961C>G (n.*2961C>G)
c.3234C>G (p.Ser1078Arg)
c.3273C>G (p.Ser1091Arg)
c.3288C>G (p.Ser1096Arg)
n.4036C>G
c.3294C>G (p.Ser1098Arg)
c.3216C>G (p.Ser1072Arg)
c.3186C>G (p.Ser1062Arg)
c.3486C>G (p.Ser1162Arg)
c.3495C>G (p.Ser1165Arg)
c.2841C>G (p.Ser947Arg)
c.3285C>G (p.Ser1095Arg)
9g.135786370C>TCA467821257KCNT1c.3351C>T (p.Ser1117=)
c.3192C>T (p.Ser1064=)
c.3099C>T (p.Ser1033=)
c.3108C>T (p.Ser1036=)
c.3252C>T (p.Ser1084=)
c.*2961C>T (n.*2961C>T)
c.3234C>T (p.Ser1078=)
c.3273C>T (p.Ser1091=)
c.3288C>T (p.Ser1096=)
n.4036C>T
c.3294C>T (p.Ser1098=)
c.3216C>T (p.Ser1072=)
c.3186C>T (p.Ser1062=)
c.3486C>T (p.Ser1162=)
c.3495C>T (p.Ser1165=)
c.2841C>T (p.Ser947=)
c.3285C>T (p.Ser1095=)
9g.135786371C>ACA375491779KCNT1c.3352C>A (p.Arg1118Ser)
c.3193C>A (p.Arg1065Ser)
c.3100C>A (p.Arg1034Ser)
c.3109C>A (p.Arg1037Ser)
c.3253C>A (p.Arg1085Ser)
c.*2962C>A (n.*2962C>A)
c.3235C>A (p.Arg1079Ser)
c.3274C>A (p.Arg1092Ser)
c.3289C>A (p.Arg1097Ser)
n.4037C>A
c.3295C>A (p.Arg1099Ser)
c.3217C>A (p.Arg1073Ser)
c.3187C>A (p.Arg1063Ser)
c.3487C>A (p.Arg1163Ser)
c.3496C>A (p.Arg1166Ser)
c.2842C>A (p.Arg948Ser)
c.3286C>A (p.Arg1096Ser)
9g.135786371C=CA1883888106KCNT1c.3352C= (p.Arg1118=)
c.3193C= (p.Arg1065=)
c.3100C= (p.Arg1034=)
c.3109C= (p.Arg1037=)
c.3253C= (p.Arg1085=)
c.*2962C= (n.*2962C=)
c.3235C= (p.Arg1079=)
c.3274C= (p.Arg1092=)
c.3289C= (p.Arg1097=)
n.4037C=
c.3295C= (p.Arg1099=)
c.3217C= (p.Arg1073=)
c.3187C= (p.Arg1063=)
c.3487C= (p.Arg1163=)
c.3496C= (p.Arg1166=)
c.2842C= (p.Arg948=)
c.3286C= (p.Arg1096=)
9g.135786371C>GCA5327787KCNT1c.3352C>G (p.Arg1118Gly)
c.3193C>G (p.Arg1065Gly)
c.3100C>G (p.Arg1034Gly)
c.3109C>G (p.Arg1037Gly)
c.3253C>G (p.Arg1085Gly)
c.*2962C>G (n.*2962C>G)
c.3235C>G (p.Arg1079Gly)
c.3274C>G (p.Arg1092Gly)
c.3289C>G (p.Arg1097Gly)
n.4037C>G
c.3295C>G (p.Arg1099Gly)
c.3217C>G (p.Arg1073Gly)
c.3187C>G (p.Arg1063Gly)
c.3487C>G (p.Arg1163Gly)
c.3496C>G (p.Arg1166Gly)
c.2842C>G (p.Arg948Gly)
c.3286C>G (p.Arg1096Gly)
 dbSNP ExAC gnomAD v2
9g.135786371C>TCA5327786KCNT1c.3352C>T (p.Arg1118Cys)
c.3193C>T (p.Arg1065Cys)
c.3100C>T (p.Arg1034Cys)
c.3109C>T (p.Arg1037Cys)
c.3253C>T (p.Arg1085Cys)
c.*2962C>T (n.*2962C>T)
c.3235C>T (p.Arg1079Cys)
c.3274C>T (p.Arg1092Cys)
c.3289C>T (p.Arg1097Cys)
n.4037C>T
c.3295C>T (p.Arg1099Cys)
c.3217C>T (p.Arg1073Cys)
c.3187C>T (p.Arg1063Cys)
c.3487C>T (p.Arg1163Cys)
c.3496C>T (p.Arg1166Cys)
c.2842C>T (p.Arg948Cys)
c.3286C>T (p.Arg1096Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
9g.135786372G>ACA201424204KCNT1c.3353G>A (p.Arg1118His)
c.3194G>A (p.Arg1065His)
c.3101G>A (p.Arg1034His)
c.3110G>A (p.Arg1037His)
c.3254G>A (p.Arg1085His)
c.*2963G>A (n.*2963G>A)
c.3236G>A (p.Arg1079His)
c.3275G>A (p.Arg1092His)
c.3290G>A (p.Arg1097His)
n.4038G>A
c.3296G>A (p.Arg1099His)
c.3218G>A (p.Arg1073His)
c.3188G>A (p.Arg1063His)
c.3488G>A (p.Arg1163His)
c.3497G>A (p.Arg1166His)
c.2843G>A (p.Arg948His)
c.3287G>A (p.Arg1096His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135786372G>CCA375491780KCNT1c.3353G>C (p.Arg1118Pro)
c.3194G>C (p.Arg1065Pro)
c.3101G>C (p.Arg1034Pro)
c.3110G>C (p.Arg1037Pro)
c.3254G>C (p.Arg1085Pro)
c.*2963G>C (n.*2963G>C)
c.3236G>C (p.Arg1079Pro)
c.3275G>C (p.Arg1092Pro)
c.3290G>C (p.Arg1097Pro)
n.4038G>C
c.3296G>C (p.Arg1099Pro)
c.3218G>C (p.Arg1073Pro)
c.3188G>C (p.Arg1063Pro)
c.3488G>C (p.Arg1163Pro)
c.3497G>C (p.Arg1166Pro)
c.2843G>C (p.Arg948Pro)
c.3287G>C (p.Arg1096Pro)
9g.135786372G=CA1883888113KCNT1c.3353G= (p.Arg1118=)
c.3194G= (p.Arg1065=)
c.3101G= (p.Arg1034=)
c.3110G= (p.Arg1037=)
c.3254G= (p.Arg1085=)
c.*2963G= (n.*2963G=)
c.3236G= (p.Arg1079=)
c.3275G= (p.Arg1092=)
c.3290G= (p.Arg1097=)
n.4038G=
c.3296G= (p.Arg1099=)
c.3218G= (p.Arg1073=)
c.3188G= (p.Arg1063=)
c.3488G= (p.Arg1163=)
c.3497G= (p.Arg1166=)
c.2843G= (p.Arg948=)
c.3287G= (p.Arg1096=)
9g.135786372G>TCA375491781KCNT1c.3353G>T (p.Arg1118Leu)
c.3194G>T (p.Arg1065Leu)
c.3101G>T (p.Arg1034Leu)
c.3110G>T (p.Arg1037Leu)
c.3254G>T (p.Arg1085Leu)
c.*2963G>T (n.*2963G>T)
c.3236G>T (p.Arg1079Leu)
c.3275G>T (p.Arg1092Leu)
c.3290G>T (p.Arg1097Leu)
n.4038G>T
c.3296G>T (p.Arg1099Leu)
c.3218G>T (p.Arg1073Leu)
c.3188G>T (p.Arg1063Leu)
c.3488G>T (p.Arg1163Leu)
c.3497G>T (p.Arg1166Leu)
c.2843G>T (p.Arg948Leu)
c.3287G>T (p.Arg1096Leu)
 dbSNP gnomAD v4
9g.135786373C>ACA467821259KCNT1c.3354C>A (p.Arg1118=)
c.3195C>A (p.Arg1065=)
c.3102C>A (p.Arg1034=)
c.3111C>A (p.Arg1037=)
c.3255C>A (p.Arg1085=)
c.*2964C>A (n.*2964C>A)
c.3237C>A (p.Arg1079=)
c.3276C>A (p.Arg1092=)
c.3291C>A (p.Arg1097=)
n.4039C>A
c.3297C>A (p.Arg1099=)
c.3219C>A (p.Arg1073=)
c.3189C>A (p.Arg1063=)
c.3489C>A (p.Arg1163=)
c.3498C>A (p.Arg1166=)
c.2844C>A (p.Arg948=)
c.3288C>A (p.Arg1096=)
9g.135786373C=CA1883888120KCNT1c.3354C= (p.Arg1118=)
c.3195C= (p.Arg1065=)
c.3102C= (p.Arg1034=)
c.3111C= (p.Arg1037=)
c.3255C= (p.Arg1085=)
c.*2964C= (n.*2964C=)
c.3237C= (p.Arg1079=)
c.3276C= (p.Arg1092=)
c.3291C= (p.Arg1097=)
n.4039C=
c.3297C= (p.Arg1099=)
c.3219C= (p.Arg1073=)
c.3189C= (p.Arg1063=)
c.3489C= (p.Arg1163=)
c.3498C= (p.Arg1166=)
c.2844C= (p.Arg948=)
c.3288C= (p.Arg1096=)
9g.135786373C>GCA467821258KCNT1c.3354C>G (p.Arg1118=)
c.3195C>G (p.Arg1065=)
c.3102C>G (p.Arg1034=)
c.3111C>G (p.Arg1037=)
c.3255C>G (p.Arg1085=)
c.*2964C>G (n.*2964C>G)
c.3237C>G (p.Arg1079=)
c.3276C>G (p.Arg1092=)
c.3291C>G (p.Arg1097=)
n.4039C>G
c.3297C>G (p.Arg1099=)
c.3219C>G (p.Arg1073=)
c.3189C>G (p.Arg1063=)
c.3489C>G (p.Arg1163=)
c.3498C>G (p.Arg1166=)
c.2844C>G (p.Arg948=)
c.3288C>G (p.Arg1096=)
9g.135786373C>TCA5327788KCNT1c.3354C>T (p.Arg1118=)
c.3195C>T (p.Arg1065=)
c.3102C>T (p.Arg1034=)
c.3111C>T (p.Arg1037=)
c.3255C>T (p.Arg1085=)
c.*2964C>T (n.*2964C>T)
c.3237C>T (p.Arg1079=)
c.3276C>T (p.Arg1092=)
c.3291C>T (p.Arg1097=)
n.4039C>T
c.3297C>T (p.Arg1099=)
c.3219C>T (p.Arg1073=)
c.3189C>T (p.Arg1063=)
c.3489C>T (p.Arg1163=)
c.3498C>T (p.Arg1166=)
c.2844C>T (p.Arg948=)
c.3288C>T (p.Arg1096=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786374A=CA1883888124KCNT1c.3355A= (p.Lys1119=)
c.3196A= (p.Lys1066=)
c.3103A= (p.Lys1035=)
c.3112A= (p.Lys1038=)
c.3256A= (p.Lys1086=)
c.*2965A= (n.*2965A=)
c.3238A= (p.Lys1080=)
c.3277A= (p.Lys1093=)
c.3292A= (p.Lys1098=)
n.4040A=
c.3298A= (p.Lys1100=)
c.3220A= (p.Lys1074=)
c.3190A= (p.Lys1064=)
c.3490A= (p.Lys1164=)
c.3499A= (p.Lys1167=)
c.2845A= (p.Lys949=)
c.3289A= (p.Lys1097=)
9g.135786374A>CCA375491783KCNT1c.3355A>C (p.Lys1119Gln)
c.3196A>C (p.Lys1066Gln)
c.3103A>C (p.Lys1035Gln)
c.3112A>C (p.Lys1038Gln)
c.3256A>C (p.Lys1086Gln)
c.*2965A>C (n.*2965A>C)
c.3238A>C (p.Lys1080Gln)
c.3277A>C (p.Lys1093Gln)
c.3292A>C (p.Lys1098Gln)
n.4040A>C
c.3298A>C (p.Lys1100Gln)
c.3220A>C (p.Lys1074Gln)
c.3190A>C (p.Lys1064Gln)
c.3490A>C (p.Lys1164Gln)
c.3499A>C (p.Lys1167Gln)
c.2845A>C (p.Lys949Gln)
c.3289A>C (p.Lys1097Gln)
9g.135786374A>GCA375491782KCNT1c.3355A>G (p.Lys1119Glu)
c.3196A>G (p.Lys1066Glu)
c.3103A>G (p.Lys1035Glu)
c.3112A>G (p.Lys1038Glu)
c.3256A>G (p.Lys1086Glu)
c.*2965A>G (n.*2965A>G)
c.3238A>G (p.Lys1080Glu)
c.3277A>G (p.Lys1093Glu)
c.3292A>G (p.Lys1098Glu)
n.4040A>G
c.3298A>G (p.Lys1100Glu)
c.3220A>G (p.Lys1074Glu)
c.3190A>G (p.Lys1064Glu)
c.3490A>G (p.Lys1164Glu)
c.3499A>G (p.Lys1167Glu)
c.2845A>G (p.Lys949Glu)
c.3289A>G (p.Lys1097Glu)
 dbSNP gnomAD v2 gnomAD v4
9g.135786374A>TCA375491784KCNT1c.3355A>T (p.Lys1119Ter)
c.3196A>T (p.Lys1066Ter)
c.3103A>T (p.Lys1035Ter)
c.3112A>T (p.Lys1038Ter)
c.3256A>T (p.Lys1086Ter)
c.*2965A>T (n.*2965A>T)
c.3238A>T (p.Lys1080Ter)
c.3277A>T (p.Lys1093Ter)
c.3292A>T (p.Lys1098Ter)
n.4040A>T
c.3298A>T (p.Lys1100Ter)
c.3220A>T (p.Lys1074Ter)
c.3190A>T (p.Lys1064Ter)
c.3490A>T (p.Lys1164Ter)
c.3499A>T (p.Lys1167Ter)
c.2845A>T (p.Lys949Ter)
c.3289A>T (p.Lys1097Ter)
9g.135786375A=CA1883888128KCNT1c.3356A= (p.Lys1119=)
c.3197A= (p.Lys1066=)
c.3104A= (p.Lys1035=)
c.3113A= (p.Lys1038=)
c.3257A= (p.Lys1086=)
c.*2966A= (n.*2966A=)
c.3239A= (p.Lys1080=)
c.3278A= (p.Lys1093=)
c.3293A= (p.Lys1098=)
n.4041A=
c.3299A= (p.Lys1100=)
c.3221A= (p.Lys1074=)
c.3191A= (p.Lys1064=)
c.3491A= (p.Lys1164=)
c.3500A= (p.Lys1167=)
c.2846A= (p.Lys949=)
c.3290A= (p.Lys1097=)
9g.135786375A>CCA375491785KCNT1c.3356A>C (p.Lys1119Thr)
c.3197A>C (p.Lys1066Thr)
c.3104A>C (p.Lys1035Thr)
c.3113A>C (p.Lys1038Thr)
c.3257A>C (p.Lys1086Thr)
c.*2966A>C (n.*2966A>C)
c.3239A>C (p.Lys1080Thr)
c.3278A>C (p.Lys1093Thr)
c.3293A>C (p.Lys1098Thr)
n.4041A>C
c.3299A>C (p.Lys1100Thr)
c.3221A>C (p.Lys1074Thr)
c.3191A>C (p.Lys1064Thr)
c.3491A>C (p.Lys1164Thr)
c.3500A>C (p.Lys1167Thr)
c.2846A>C (p.Lys949Thr)
c.3290A>C (p.Lys1097Thr)
 ClinVar dbSNP
9g.135786375A>GCA5327789KCNT1c.3356A>G (p.Lys1119Arg)
c.3197A>G (p.Lys1066Arg)
c.3104A>G (p.Lys1035Arg)
c.3113A>G (p.Lys1038Arg)
c.3257A>G (p.Lys1086Arg)
c.*2966A>G (n.*2966A>G)
c.3239A>G (p.Lys1080Arg)
c.3278A>G (p.Lys1093Arg)
c.3293A>G (p.Lys1098Arg)
n.4041A>G
c.3299A>G (p.Lys1100Arg)
c.3221A>G (p.Lys1074Arg)
c.3191A>G (p.Lys1064Arg)
c.3491A>G (p.Lys1164Arg)
c.3500A>G (p.Lys1167Arg)
c.2846A>G (p.Lys949Arg)
c.3290A>G (p.Lys1097Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135786375A>TCA375491786KCNT1c.3356A>T (p.Lys1119Met)
c.3197A>T (p.Lys1066Met)
c.3104A>T (p.Lys1035Met)
c.3113A>T (p.Lys1038Met)
c.3257A>T (p.Lys1086Met)
c.*2966A>T (n.*2966A>T)
c.3239A>T (p.Lys1080Met)
c.3278A>T (p.Lys1093Met)
c.3293A>T (p.Lys1098Met)
n.4041A>T
c.3299A>T (p.Lys1100Met)
c.3221A>T (p.Lys1074Met)
c.3191A>T (p.Lys1064Met)
c.3491A>T (p.Lys1164Met)
c.3500A>T (p.Lys1167Met)
c.2846A>T (p.Lys949Met)
c.3290A>T (p.Lys1097Met)
9g.135786376G>ACA467821260KCNT1c.3357G>A (p.Lys1119=)
c.3198G>A (p.Lys1066=)
c.3105G>A (p.Lys1035=)
c.3114G>A (p.Lys1038=)
c.3258G>A (p.Lys1086=)
c.*2967G>A (n.*2967G>A)
c.3240G>A (p.Lys1080=)
c.3279G>A (p.Lys1093=)
c.3294G>A (p.Lys1098=)
n.4042G>A
c.3300G>A (p.Lys1100=)
c.3222G>A (p.Lys1074=)
c.3192G>A (p.Lys1064=)
c.3492G>A (p.Lys1164=)
c.3501G>A (p.Lys1167=)
c.2847G>A (p.Lys949=)
c.3291G>A (p.Lys1097=)
 gnomAD v4
9g.135786376G>CCA375491787KCNT1c.3357G>C (p.Lys1119Asn)
c.3198G>C (p.Lys1066Asn)
c.3105G>C (p.Lys1035Asn)
c.3114G>C (p.Lys1038Asn)
c.3258G>C (p.Lys1086Asn)
c.*2967G>C (n.*2967G>C)
c.3240G>C (p.Lys1080Asn)
c.3279G>C (p.Lys1093Asn)
c.3294G>C (p.Lys1098Asn)
n.4042G>C
c.3300G>C (p.Lys1100Asn)
c.3222G>C (p.Lys1074Asn)
c.3192G>C (p.Lys1064Asn)
c.3492G>C (p.Lys1164Asn)
c.3501G>C (p.Lys1167Asn)
c.2847G>C (p.Lys949Asn)
c.3291G>C (p.Lys1097Asn)
9g.135786376G>TCA375491788KCNT1c.3357G>T (p.Lys1119Asn)
c.3198G>T (p.Lys1066Asn)
c.3105G>T (p.Lys1035Asn)
c.3114G>T (p.Lys1038Asn)
c.3258G>T (p.Lys1086Asn)
c.*2967G>T (n.*2967G>T)
c.3240G>T (p.Lys1080Asn)
c.3279G>T (p.Lys1093Asn)
c.3294G>T (p.Lys1098Asn)
n.4042G>T
c.3300G>T (p.Lys1100Asn)
c.3222G>T (p.Lys1074Asn)
c.3192G>T (p.Lys1064Asn)
c.3492G>T (p.Lys1164Asn)
c.3501G>T (p.Lys1167Asn)
c.2847G>T (p.Lys949Asn)
c.3291G>T (p.Lys1097Asn)
 gnomAD v4
9g.135786377G>ACA375491789KCNT1c.3358G>A (p.Ala1120Thr)
c.3199G>A (p.Ala1067Thr)
c.3106G>A (p.Ala1036Thr)
c.3115G>A (p.Ala1039Thr)
c.3259G>A (p.Ala1087Thr)
c.*2968G>A (n.*2968G>A)
c.3241G>A (p.Ala1081Thr)
c.3280G>A (p.Ala1094Thr)
c.3295G>A (p.Ala1099Thr)
n.4043G>A
c.3301G>A (p.Ala1101Thr)
c.3223G>A (p.Ala1075Thr)
c.3193G>A (p.Ala1065Thr)
c.3493G>A (p.Ala1165Thr)
c.3502G>A (p.Ala1168Thr)
c.2848G>A (p.Ala950Thr)
c.3292G>A (p.Ala1098Thr)
9g.135786377G>CCA375491790KCNT1c.3358G>C (p.Ala1120Pro)
c.3199G>C (p.Ala1067Pro)
c.3106G>C (p.Ala1036Pro)
c.3115G>C (p.Ala1039Pro)
c.3259G>C (p.Ala1087Pro)
c.*2968G>C (n.*2968G>C)
c.3241G>C (p.Ala1081Pro)
c.3280G>C (p.Ala1094Pro)
c.3295G>C (p.Ala1099Pro)
n.4043G>C
c.3301G>C (p.Ala1101Pro)
c.3223G>C (p.Ala1075Pro)
c.3193G>C (p.Ala1065Pro)
c.3493G>C (p.Ala1165Pro)
c.3502G>C (p.Ala1168Pro)
c.2848G>C (p.Ala950Pro)
c.3292G>C (p.Ala1098Pro)
9g.135786377G>TCA375491791KCNT1c.3358G>T (p.Ala1120Ser)
c.3199G>T (p.Ala1067Ser)
c.3106G>T (p.Ala1036Ser)
c.3115G>T (p.Ala1039Ser)
c.3259G>T (p.Ala1087Ser)
c.*2968G>T (n.*2968G>T)
c.3241G>T (p.Ala1081Ser)
c.3280G>T (p.Ala1094Ser)
c.3295G>T (p.Ala1099Ser)
n.4043G>T
c.3301G>T (p.Ala1101Ser)
c.3223G>T (p.Ala1075Ser)
c.3193G>T (p.Ala1065Ser)
c.3493G>T (p.Ala1165Ser)
c.3502G>T (p.Ala1168Ser)
c.2848G>T (p.Ala950Ser)
c.3292G>T (p.Ala1098Ser)
9g.135786378C>ACA375491792KCNT1c.3359C>A (p.Ala1120Glu)
c.3200C>A (p.Ala1067Glu)
c.3107C>A (p.Ala1036Glu)
c.3116C>A (p.Ala1039Glu)
c.3260C>A (p.Ala1087Glu)
c.*2969C>A (n.*2969C>A)
c.3242C>A (p.Ala1081Glu)
c.3281C>A (p.Ala1094Glu)
c.3296C>A (p.Ala1099Glu)
n.4044C>A
c.3302C>A (p.Ala1101Glu)
c.3224C>A (p.Ala1075Glu)
c.3194C>A (p.Ala1065Glu)
c.3494C>A (p.Ala1165Glu)
c.3503C>A (p.Ala1168Glu)
c.2849C>A (p.Ala950Glu)
c.3293C>A (p.Ala1098Glu)
9g.135786378C=CA1883888135KCNT1c.3359C= (p.Ala1120=)
c.3200C= (p.Ala1067=)
c.3107C= (p.Ala1036=)
c.3116C= (p.Ala1039=)
c.3260C= (p.Ala1087=)
c.*2969C= (n.*2969C=)
c.3242C= (p.Ala1081=)
c.3281C= (p.Ala1094=)
c.3296C= (p.Ala1099=)
n.4044C=
c.3302C= (p.Ala1101=)
c.3224C= (p.Ala1075=)
c.3194C= (p.Ala1065=)
c.3494C= (p.Ala1165=)
c.3503C= (p.Ala1168=)
c.2849C= (p.Ala950=)
c.3293C= (p.Ala1098=)
9g.135786378C>GCA375491793KCNT1c.3359C>G (p.Ala1120Gly)
c.3200C>G (p.Ala1067Gly)
c.3107C>G (p.Ala1036Gly)
c.3116C>G (p.Ala1039Gly)
c.3260C>G (p.Ala1087Gly)
c.*2969C>G (n.*2969C>G)
c.3242C>G (p.Ala1081Gly)
c.3281C>G (p.Ala1094Gly)
c.3296C>G (p.Ala1099Gly)
n.4044C>G
c.3302C>G (p.Ala1101Gly)
c.3224C>G (p.Ala1075Gly)
c.3194C>G (p.Ala1065Gly)
c.3494C>G (p.Ala1165Gly)
c.3503C>G (p.Ala1168Gly)
c.2849C>G (p.Ala950Gly)
c.3293C>G (p.Ala1098Gly)
9g.135786378C>TCA5327790KCNT1c.3359C>T (p.Ala1120Val)
c.3200C>T (p.Ala1067Val)
c.3107C>T (p.Ala1036Val)
c.3116C>T (p.Ala1039Val)
c.3260C>T (p.Ala1087Val)
c.*2969C>T (n.*2969C>T)
c.3242C>T (p.Ala1081Val)
c.3281C>T (p.Ala1094Val)
c.3296C>T (p.Ala1099Val)
n.4044C>T
c.3302C>T (p.Ala1101Val)
c.3224C>T (p.Ala1075Val)
c.3194C>T (p.Ala1065Val)
c.3494C>T (p.Ala1165Val)
c.3503C>T (p.Ala1168Val)
c.2849C>T (p.Ala950Val)
c.3293C>T (p.Ala1098Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786379G>ACA5327791KCNT1c.3360G>A (p.Ala1120=)
c.3201G>A (p.Ala1067=)
c.3108G>A (p.Ala1036=)
c.3117G>A (p.Ala1039=)
c.3261G>A (p.Ala1087=)
c.*2970G>A (n.*2970G>A)
c.3243G>A (p.Ala1081=)
c.3282G>A (p.Ala1094=)
c.3297G>A (p.Ala1099=)
n.4045G>A
c.3303G>A (p.Ala1101=)
c.3225G>A (p.Ala1075=)
c.3195G>A (p.Ala1065=)
c.3495G>A (p.Ala1165=)
c.3504G>A (p.Ala1168=)
c.2850G>A (p.Ala950=)
c.3294G>A (p.Ala1098=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.135786379G>CCA467821261KCNT1c.3360G>C (p.Ala1120=)
c.3201G>C (p.Ala1067=)
c.3108G>C (p.Ala1036=)
c.3117G>C (p.Ala1039=)
c.3261G>C (p.Ala1087=)
c.*2970G>C (n.*2970G>C)
c.3243G>C (p.Ala1081=)
c.3282G>C (p.Ala1094=)
c.3297G>C (p.Ala1099=)
n.4045G>C
c.3303G>C (p.Ala1101=)
c.3225G>C (p.Ala1075=)
c.3195G>C (p.Ala1065=)
c.3495G>C (p.Ala1165=)
c.3504G>C (p.Ala1168=)
c.2850G>C (p.Ala950=)
c.3294G>C (p.Ala1098=)
9g.135786379G=CA1883888148KCNT1c.3360G= (p.Ala1120=)
c.3201G= (p.Ala1067=)
c.3108G= (p.Ala1036=)
c.3117G= (p.Ala1039=)
c.3261G= (p.Ala1087=)
c.*2970G= (n.*2970G=)
c.3243G= (p.Ala1081=)
c.3282G= (p.Ala1094=)
c.3297G= (p.Ala1099=)
n.4045G=
c.3303G= (p.Ala1101=)
c.3225G= (p.Ala1075=)
c.3195G= (p.Ala1065=)
c.3495G= (p.Ala1165=)
c.3504G= (p.Ala1168=)
c.2850G= (p.Ala950=)
c.3294G= (p.Ala1098=)
9g.135786379G>TCA201424218KCNT1c.3360G>T (p.Ala1120=)
c.3201G>T (p.Ala1067=)
c.3108G>T (p.Ala1036=)
c.3117G>T (p.Ala1039=)
c.3261G>T (p.Ala1087=)
c.*2970G>T (n.*2970G>T)
c.3243G>T (p.Ala1081=)
c.3282G>T (p.Ala1094=)
c.3297G>T (p.Ala1099=)
n.4045G>T
c.3303G>T (p.Ala1101=)
c.3225G>T (p.Ala1075=)
c.3195G>T (p.Ala1065=)
c.3495G>T (p.Ala1165=)
c.3504G>T (p.Ala1168=)
c.2850G>T (p.Ala950=)
c.3294G>T (p.Ala1098=)
 dbSNP gnomAD v2 gnomAD v4
9g.135786380C>ACA375491794KCNT1c.3361C>A (p.Pro1121Thr)
c.3202C>A (p.Pro1068Thr)
c.3109C>A (p.Pro1037Thr)
c.3118C>A (p.Pro1040Thr)
c.3262C>A (p.Pro1088Thr)
c.*2971C>A (n.*2971C>A)
c.3244C>A (p.Pro1082Thr)
c.3283C>A (p.Pro1095Thr)
c.3298C>A (p.Pro1100Thr)
n.4046C>A
c.3304C>A (p.Pro1102Thr)
c.3226C>A (p.Pro1076Thr)
c.3196C>A (p.Pro1066Thr)
c.3496C>A (p.Pro1166Thr)
c.3505C>A (p.Pro1169Thr)
c.2851C>A (p.Pro951Thr)
c.3295C>A (p.Pro1099Thr)
 gnomAD v4
9g.135786380C=CA1883888153KCNT1c.3361C= (p.Pro1121=)
c.3202C= (p.Pro1068=)
c.3109C= (p.Pro1037=)
c.3118C= (p.Pro1040=)
c.3262C= (p.Pro1088=)
c.*2971C= (n.*2971C=)
c.3244C= (p.Pro1082=)
c.3283C= (p.Pro1095=)
c.3298C= (p.Pro1100=)
n.4046C=
c.3304C= (p.Pro1102=)
c.3226C= (p.Pro1076=)
c.3196C= (p.Pro1066=)
c.3496C= (p.Pro1166=)
c.3505C= (p.Pro1169=)
c.2851C= (p.Pro951=)
c.3295C= (p.Pro1099=)
9g.135786380C>GCA375491796KCNT1c.3361C>G (p.Pro1121Ala)
c.3202C>G (p.Pro1068Ala)
c.3109C>G (p.Pro1037Ala)
c.3118C>G (p.Pro1040Ala)
c.3262C>G (p.Pro1088Ala)
c.*2971C>G (n.*2971C>G)
c.3244C>G (p.Pro1082Ala)
c.3283C>G (p.Pro1095Ala)
c.3298C>G (p.Pro1100Ala)
n.4046C>G
c.3304C>G (p.Pro1102Ala)
c.3226C>G (p.Pro1076Ala)
c.3196C>G (p.Pro1066Ala)
c.3496C>G (p.Pro1166Ala)
c.3505C>G (p.Pro1169Ala)
c.2851C>G (p.Pro951Ala)
c.3295C>G (p.Pro1099Ala)
9g.135786380C>TCA375491798KCNT1c.3361C>T (p.Pro1121Ser)
c.3202C>T (p.Pro1068Ser)
c.3109C>T (p.Pro1037Ser)
c.3118C>T (p.Pro1040Ser)
c.3262C>T (p.Pro1088Ser)
c.*2971C>T (n.*2971C>T)
c.3244C>T (p.Pro1082Ser)
c.3283C>T (p.Pro1095Ser)
c.3298C>T (p.Pro1100Ser)
n.4046C>T
c.3304C>T (p.Pro1102Ser)
c.3226C>T (p.Pro1076Ser)
c.3196C>T (p.Pro1066Ser)
c.3496C>T (p.Pro1166Ser)
c.3505C>T (p.Pro1169Ser)
c.2851C>T (p.Pro951Ser)
c.3295C>T (p.Pro1099Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135786381C>ACA375491805KCNT1c.3362C>A (p.Pro1121His)
c.3203C>A (p.Pro1068His)
c.3110C>A (p.Pro1037His)
c.3119C>A (p.Pro1040His)
c.3263C>A (p.Pro1088His)
c.*2972C>A (n.*2972C>A)
c.3245C>A (p.Pro1082His)
c.3284C>A (p.Pro1095His)
c.3299C>A (p.Pro1100His)
n.4047C>A
c.3305C>A (p.Pro1102His)
c.3227C>A (p.Pro1076His)
c.3197C>A (p.Pro1066His)
c.3497C>A (p.Pro1166His)
c.3506C>A (p.Pro1169His)
c.2852C>A (p.Pro951His)
c.3296C>A (p.Pro1099His)
9g.135786381C>GCA375491801KCNT1c.3362C>G (p.Pro1121Arg)
c.3203C>G (p.Pro1068Arg)
c.3110C>G (p.Pro1037Arg)
c.3119C>G (p.Pro1040Arg)
c.3263C>G (p.Pro1088Arg)
c.*2972C>G (n.*2972C>G)
c.3245C>G (p.Pro1082Arg)
c.3284C>G (p.Pro1095Arg)
c.3299C>G (p.Pro1100Arg)
n.4047C>G
c.3305C>G (p.Pro1102Arg)
c.3227C>G (p.Pro1076Arg)
c.3197C>G (p.Pro1066Arg)
c.3497C>G (p.Pro1166Arg)
c.3506C>G (p.Pro1169Arg)
c.2852C>G (p.Pro951Arg)
c.3296C>G (p.Pro1099Arg)
9g.135786381C>TCA375491803KCNT1c.3362C>T (p.Pro1121Leu)
c.3203C>T (p.Pro1068Leu)
c.3110C>T (p.Pro1037Leu)
c.3119C>T (p.Pro1040Leu)
c.3263C>T (p.Pro1088Leu)
c.*2972C>T (n.*2972C>T)
c.3245C>T (p.Pro1082Leu)
c.3284C>T (p.Pro1095Leu)
c.3299C>T (p.Pro1100Leu)
n.4047C>T
c.3305C>T (p.Pro1102Leu)
c.3227C>T (p.Pro1076Leu)
c.3197C>T (p.Pro1066Leu)
c.3497C>T (p.Pro1166Leu)
c.3506C>T (p.Pro1169Leu)
c.2852C>T (p.Pro951Leu)
c.3296C>T (p.Pro1099Leu)
9g.135786382C>ACA467821262KCNT1c.3363C>A (p.Pro1121=)
c.3204C>A (p.Pro1068=)
c.3111C>A (p.Pro1037=)
c.3120C>A (p.Pro1040=)
c.3264C>A (p.Pro1088=)
c.*2973C>A (n.*2973C>A)
c.3246C>A (p.Pro1082=)
c.3285C>A (p.Pro1095=)
c.3300C>A (p.Pro1100=)
n.4048C>A
c.3306C>A (p.Pro1102=)
c.3228C>A (p.Pro1076=)
c.3198C>A (p.Pro1066=)
c.3498C>A (p.Pro1166=)
c.3507C>A (p.Pro1169=)
c.2853C>A (p.Pro951=)
c.3297C>A (p.Pro1099=)
 gnomAD v4
9g.135786382C>GCA467821263KCNT1c.3363C>G (p.Pro1121=)
c.3204C>G (p.Pro1068=)
c.3111C>G (p.Pro1037=)
c.3120C>G (p.Pro1040=)
c.3264C>G (p.Pro1088=)
c.*2973C>G (n.*2973C>G)
c.3246C>G (p.Pro1082=)
c.3285C>G (p.Pro1095=)
c.3300C>G (p.Pro1100=)
n.4048C>G
c.3306C>G (p.Pro1102=)
c.3228C>G (p.Pro1076=)
c.3198C>G (p.Pro1066=)
c.3498C>G (p.Pro1166=)
c.3507C>G (p.Pro1169=)
c.2853C>G (p.Pro951=)
c.3297C>G (p.Pro1099=)
9g.135786382C>TCA467821264KCNT1c.3363C>T (p.Pro1121=)
c.3204C>T (p.Pro1068=)
c.3111C>T (p.Pro1037=)
c.3120C>T (p.Pro1040=)
c.3264C>T (p.Pro1088=)
c.*2973C>T (n.*2973C>T)
c.3246C>T (p.Pro1082=)
c.3285C>T (p.Pro1095=)
c.3300C>T (p.Pro1100=)
n.4048C>T
c.3306C>T (p.Pro1102=)
c.3228C>T (p.Pro1076=)
c.3198C>T (p.Pro1066=)
c.3498C>T (p.Pro1166=)
c.3507C>T (p.Pro1169=)
c.2853C>T (p.Pro951=)
c.3297C>T (p.Pro1099=)
 gnomAD v4 COSMIC COSMIC
9g.135786383A>CCA375491809KCNT1c.3364A>C (p.Lys1122Gln)
c.3205A>C (p.Lys1069Gln)
c.3112A>C (p.Lys1038Gln)
c.3121A>C (p.Lys1041Gln)
c.3265A>C (p.Lys1089Gln)
c.*2974A>C (n.*2974A>C)
c.3247A>C (p.Lys1083Gln)
c.3286A>C (p.Lys1096Gln)
c.3301A>C (p.Lys1101Gln)
n.4049A>C
c.3307A>C (p.Lys1103Gln)
c.3229A>C (p.Lys1077Gln)
c.3199A>C (p.Lys1067Gln)
c.3499A>C (p.Lys1167Gln)
c.3508A>C (p.Lys1170Gln)
c.2854A>C (p.Lys952Gln)
c.3298A>C (p.Lys1100Gln)
9g.135786383A>GCA375491811KCNT1c.3364A>G (p.Lys1122Glu)
c.3205A>G (p.Lys1069Glu)
c.3112A>G (p.Lys1038Glu)
c.3121A>G (p.Lys1041Glu)
c.3265A>G (p.Lys1089Glu)
c.*2974A>G (n.*2974A>G)
c.3247A>G (p.Lys1083Glu)
c.3286A>G (p.Lys1096Glu)
c.3301A>G (p.Lys1101Glu)
n.4049A>G
c.3307A>G (p.Lys1103Glu)
c.3229A>G (p.Lys1077Glu)
c.3199A>G (p.Lys1067Glu)
c.3499A>G (p.Lys1167Glu)
c.3508A>G (p.Lys1170Glu)
c.2854A>G (p.Lys952Glu)
c.3298A>G (p.Lys1100Glu)
 gnomAD v4
9g.135786383A>TCA375491813KCNT1c.3364A>T (p.Lys1122Ter)
c.3205A>T (p.Lys1069Ter)
c.3112A>T (p.Lys1038Ter)
c.3121A>T (p.Lys1041Ter)
c.3265A>T (p.Lys1089Ter)
c.*2974A>T (n.*2974A>T)
c.3247A>T (p.Lys1083Ter)
c.3286A>T (p.Lys1096Ter)
c.3301A>T (p.Lys1101Ter)
n.4049A>T
c.3307A>T (p.Lys1103Ter)
c.3229A>T (p.Lys1077Ter)
c.3199A>T (p.Lys1067Ter)
c.3499A>T (p.Lys1167Ter)
c.3508A>T (p.Lys1170Ter)
c.2854A>T (p.Lys952Ter)
c.3298A>T (p.Lys1100Ter)
9g.135786384A=CA1883888157KCNT1c.3365A= (p.Lys1122=)
c.3206A= (p.Lys1069=)
c.3113A= (p.Lys1038=)
c.3122A= (p.Lys1041=)
c.3266A= (p.Lys1089=)
c.*2975A= (n.*2975A=)
c.3248A= (p.Lys1083=)
c.3287A= (p.Lys1096=)
c.3302A= (p.Lys1101=)
n.4050A=
c.3308A= (p.Lys1103=)
c.3230A= (p.Lys1077=)
c.3200A= (p.Lys1067=)
c.3500A= (p.Lys1167=)
c.3509A= (p.Lys1170=)
c.2855A= (p.Lys952=)
c.3299A= (p.Lys1100=)
9g.135786384A>CCA375491817KCNT1c.3365A>C (p.Lys1122Thr)
c.3206A>C (p.Lys1069Thr)
c.3113A>C (p.Lys1038Thr)
c.3122A>C (p.Lys1041Thr)
c.3266A>C (p.Lys1089Thr)
c.*2975A>C (n.*2975A>C)
c.3248A>C (p.Lys1083Thr)
c.3287A>C (p.Lys1096Thr)
c.3302A>C (p.Lys1101Thr)
n.4050A>C
c.3308A>C (p.Lys1103Thr)
c.3230A>C (p.Lys1077Thr)
c.3200A>C (p.Lys1067Thr)
c.3500A>C (p.Lys1167Thr)
c.3509A>C (p.Lys1170Thr)
c.2855A>C (p.Lys952Thr)
c.3299A>C (p.Lys1100Thr)
9g.135786384A>GCA375491818KCNT1c.3365A>G (p.Lys1122Arg)
c.3206A>G (p.Lys1069Arg)
c.3113A>G (p.Lys1038Arg)
c.3122A>G (p.Lys1041Arg)
c.3266A>G (p.Lys1089Arg)
c.*2975A>G (n.*2975A>G)
c.3248A>G (p.Lys1083Arg)
c.3287A>G (p.Lys1096Arg)
c.3302A>G (p.Lys1101Arg)
n.4050A>G
c.3308A>G (p.Lys1103Arg)
c.3230A>G (p.Lys1077Arg)
c.3200A>G (p.Lys1067Arg)
c.3500A>G (p.Lys1167Arg)
c.3509A>G (p.Lys1170Arg)
c.2855A>G (p.Lys952Arg)
c.3299A>G (p.Lys1100Arg)
 dbSNP
9g.135786384A>TCA375491820KCNT1c.3365A>T (p.Lys1122Met)
c.3206A>T (p.Lys1069Met)
c.3113A>T (p.Lys1038Met)
c.3122A>T (p.Lys1041Met)
c.3266A>T (p.Lys1089Met)
c.*2975A>T (n.*2975A>T)
c.3248A>T (p.Lys1083Met)
c.3287A>T (p.Lys1096Met)
c.3302A>T (p.Lys1101Met)
n.4050A>T
c.3308A>T (p.Lys1103Met)
c.3230A>T (p.Lys1077Met)
c.3200A>T (p.Lys1067Met)
c.3500A>T (p.Lys1167Met)
c.3509A>T (p.Lys1170Met)
c.2855A>T (p.Lys952Met)
c.3299A>T (p.Lys1100Met)
9g.135786385G>ACA201424223KCNT1c.3366G>A (p.Lys1122=)
c.3207G>A (p.Lys1069=)
c.3114G>A (p.Lys1038=)
c.3123G>A (p.Lys1041=)
c.3267G>A (p.Lys1089=)
c.*2976G>A (n.*2976G>A)
c.3249G>A (p.Lys1083=)
c.3288G>A (p.Lys1096=)
c.3303G>A (p.Lys1101=)
n.4051G>A
c.3309G>A (p.Lys1103=)
c.3231G>A (p.Lys1077=)
c.3201G>A (p.Lys1067=)
c.3501G>A (p.Lys1167=)
c.3510G>A (p.Lys1170=)
c.2856G>A (p.Lys952=)
c.3300G>A (p.Lys1100=)
 dbSNP
9g.135786385G>CCA375491825KCNT1c.3366G>C (p.Lys1122Asn)
c.3207G>C (p.Lys1069Asn)
c.3114G>C (p.Lys1038Asn)
c.3123G>C (p.Lys1041Asn)
c.3267G>C (p.Lys1089Asn)
c.*2976G>C (n.*2976G>C)
c.3249G>C (p.Lys1083Asn)
c.3288G>C (p.Lys1096Asn)
c.3303G>C (p.Lys1101Asn)
n.4051G>C
c.3309G>C (p.Lys1103Asn)
c.3231G>C (p.Lys1077Asn)
c.3201G>C (p.Lys1067Asn)
c.3501G>C (p.Lys1167Asn)
c.3510G>C (p.Lys1170Asn)
c.2856G>C (p.Lys952Asn)
c.3300G>C (p.Lys1100Asn)
9g.135786385G=CA1883888160KCNT1c.3366G= (p.Lys1122=)
c.3207G= (p.Lys1069=)
c.3114G= (p.Lys1038=)
c.3123G= (p.Lys1041=)
c.3267G= (p.Lys1089=)
c.*2976G= (n.*2976G=)
c.3249G= (p.Lys1083=)
c.3288G= (p.Lys1096=)
c.3303G= (p.Lys1101=)
n.4051G=
c.3309G= (p.Lys1103=)
c.3231G= (p.Lys1077=)
c.3201G= (p.Lys1067=)
c.3501G= (p.Lys1167=)
c.3510G= (p.Lys1170=)
c.2856G= (p.Lys952=)
c.3300G= (p.Lys1100=)
9g.135786385G>TCA375491827KCNT1c.3366G>T (p.Lys1122Asn)
c.3207G>T (p.Lys1069Asn)
c.3114G>T (p.Lys1038Asn)
c.3123G>T (p.Lys1041Asn)
c.3267G>T (p.Lys1089Asn)
c.*2976G>T (n.*2976G>T)
c.3249G>T (p.Lys1083Asn)
c.3288G>T (p.Lys1096Asn)
c.3303G>T (p.Lys1101Asn)
n.4051G>T
c.3309G>T (p.Lys1103Asn)
c.3231G>T (p.Lys1077Asn)
c.3201G>T (p.Lys1067Asn)
c.3501G>T (p.Lys1167Asn)
c.3510G>T (p.Lys1170Asn)
c.2856G>T (p.Lys952Asn)
c.3300G>T (p.Lys1100Asn)
9g.135786391_135786394delCA645541870KCNT1c.3372_3375del (p.Ala1127ArgfsTer26)
c.3213_3216del (p.Ala1074ArgfsTer26)
c.3120_3123del (p.Ala1043ArgfsTer26)
c.3129_3132del (p.Ala1046ArgfsTer26)
c.3273_3276del (p.Ala1094ArgfsTer26)
c.*2982_*2985del (n.*2982_*2985del)
c.3255_3258del (p.Ala1088ArgfsTer26)
c.3294_3297del (p.Ala1101ArgfsTer26)
c.3309_3312del (p.Ala1106ArgfsTer26)
n.4057_4060del
c.3315_3318del (p.Ala1108ArgfsTer26)
c.3237_3240del (p.Ala1082ArgfsTer26)
c.3207_3210del (p.Ala1072ArgfsTer26)
c.3507_3510del (p.Ala1172ArgfsTer26)
c.3516_3519del (p.Ala1175ArgfsTer26)
c.2862_2865del (p.Ala957ArgfsTer26)
c.3306_3309del (p.Ala1105ArgfsTer26)
 COSMIC
9g.135786386C>ACA375491831KCNT1c.3367C>A (p.Gln1123Lys)
c.3208C>A (p.Gln1070Lys)
c.3115C>A (p.Gln1039Lys)
c.3124C>A (p.Gln1042Lys)
c.3268C>A (p.Gln1090Lys)
c.*2977C>A (n.*2977C>A)
c.3250C>A (p.Gln1084Lys)
c.3289C>A (p.Gln1097Lys)
c.3304C>A (p.Gln1102Lys)
n.4052C>A
c.3310C>A (p.Gln1104Lys)
c.3232C>A (p.Gln1078Lys)
c.3202C>A (p.Gln1068Lys)
c.3502C>A (p.Gln1168Lys)
c.3511C>A (p.Gln1171Lys)
c.2857C>A (p.Gln953Lys)
c.3301C>A (p.Gln1101Lys)
9g.135786386C>GCA375491833KCNT1c.3367C>G (p.Gln1123Glu)
c.3208C>G (p.Gln1070Glu)
c.3115C>G (p.Gln1039Glu)
c.3124C>G (p.Gln1042Glu)
c.3268C>G (p.Gln1090Glu)
c.*2977C>G (n.*2977C>G)
c.3250C>G (p.Gln1084Glu)
c.3289C>G (p.Gln1097Glu)
c.3304C>G (p.Gln1102Glu)
n.4052C>G
c.3310C>G (p.Gln1104Glu)
c.3232C>G (p.Gln1078Glu)
c.3202C>G (p.Gln1068Glu)
c.3502C>G (p.Gln1168Glu)
c.3511C>G (p.Gln1171Glu)
c.2857C>G (p.Gln953Glu)
c.3301C>G (p.Gln1101Glu)
 gnomAD v4
9g.135786386C>TCA375491836KCNT1c.3367C>T (p.Gln1123Ter)
c.3208C>T (p.Gln1070Ter)
c.3115C>T (p.Gln1039Ter)
c.3124C>T (p.Gln1042Ter)
c.3268C>T (p.Gln1090Ter)
c.*2977C>T (n.*2977C>T)
c.3250C>T (p.Gln1084Ter)
c.3289C>T (p.Gln1097Ter)
c.3304C>T (p.Gln1102Ter)
n.4052C>T
c.3310C>T (p.Gln1104Ter)
c.3232C>T (p.Gln1078Ter)
c.3202C>T (p.Gln1068Ter)
c.3502C>T (p.Gln1168Ter)
c.3511C>T (p.Gln1171Ter)
c.2857C>T (p.Gln953Ter)
c.3301C>T (p.Gln1101Ter)
9g.135786387A=CA1883888163KCNT1c.3368A= (p.Gln1123=)
c.3209A= (p.Gln1070=)
c.3116A= (p.Gln1039=)
c.3125A= (p.Gln1042=)
c.3269A= (p.Gln1090=)
c.*2978A= (n.*2978A=)
c.3251A= (p.Gln1084=)
c.3290A= (p.Gln1097=)
c.3305A= (p.Gln1102=)
n.4053A=
c.3311A= (p.Gln1104=)
c.3233A= (p.Gln1078=)
c.3203A= (p.Gln1068=)
c.3503A= (p.Gln1168=)
c.3512A= (p.Gln1171=)
c.2858A= (p.Gln953=)
c.3302A= (p.Gln1101=)
9g.135786387A>CCA375491838KCNT1c.3368A>C (p.Gln1123Pro)
c.3209A>C (p.Gln1070Pro)
c.3116A>C (p.Gln1039Pro)
c.3125A>C (p.Gln1042Pro)
c.3269A>C (p.Gln1090Pro)
c.*2978A>C (n.*2978A>C)
c.3251A>C (p.Gln1084Pro)
c.3290A>C (p.Gln1097Pro)
c.3305A>C (p.Gln1102Pro)
n.4053A>C
c.3311A>C (p.Gln1104Pro)
c.3233A>C (p.Gln1078Pro)
c.3203A>C (p.Gln1068Pro)
c.3503A>C (p.Gln1168Pro)
c.3512A>C (p.Gln1171Pro)
c.2858A>C (p.Gln953Pro)
c.3302A>C (p.Gln1101Pro)
9g.135786387A>GCA5327792KCNT1c.3368A>G (p.Gln1123Arg)
c.3209A>G (p.Gln1070Arg)
c.3116A>G (p.Gln1039Arg)
c.3125A>G (p.Gln1042Arg)
c.3269A>G (p.Gln1090Arg)
c.*2978A>G (n.*2978A>G)
c.3251A>G (p.Gln1084Arg)
c.3290A>G (p.Gln1097Arg)
c.3305A>G (p.Gln1102Arg)
n.4053A>G
c.3311A>G (p.Gln1104Arg)
c.3233A>G (p.Gln1078Arg)
c.3203A>G (p.Gln1068Arg)
c.3503A>G (p.Gln1168Arg)
c.3512A>G (p.Gln1171Arg)
c.2858A>G (p.Gln953Arg)
c.3302A>G (p.Gln1101Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786387A>TCA375491841KCNT1c.3368A>T (p.Gln1123Leu)
c.3209A>T (p.Gln1070Leu)
c.3116A>T (p.Gln1039Leu)
c.3125A>T (p.Gln1042Leu)
c.3269A>T (p.Gln1090Leu)
c.*2978A>T (n.*2978A>T)
c.3251A>T (p.Gln1084Leu)
c.3290A>T (p.Gln1097Leu)
c.3305A>T (p.Gln1102Leu)
n.4053A>T
c.3311A>T (p.Gln1104Leu)
c.3233A>T (p.Gln1078Leu)
c.3203A>T (p.Gln1068Leu)
c.3503A>T (p.Gln1168Leu)
c.3512A>T (p.Gln1171Leu)
c.2858A>T (p.Gln953Leu)
c.3302A>T (p.Gln1101Leu)
 gnomAD v4
9g.135786388G>ACA467821265KCNT1c.3369G>A (p.Gln1123=)
c.3210G>A (p.Gln1070=)
c.3117G>A (p.Gln1039=)
c.3126G>A (p.Gln1042=)
c.3270G>A (p.Gln1090=)
c.*2979G>A (n.*2979G>A)
c.3252G>A (p.Gln1084=)
c.3291G>A (p.Gln1097=)
c.3306G>A (p.Gln1102=)
n.4054G>A
c.3312G>A (p.Gln1104=)
c.3234G>A (p.Gln1078=)
c.3204G>A (p.Gln1068=)
c.3504G>A (p.Gln1168=)
c.3513G>A (p.Gln1171=)
c.2859G>A (p.Gln953=)
c.3303G>A (p.Gln1101=)
 ClinVar dbSNP
9g.135786388G>CCA375491846KCNT1c.3369G>C (p.Gln1123His)
c.3210G>C (p.Gln1070His)
c.3117G>C (p.Gln1039His)
c.3126G>C (p.Gln1042His)
c.3270G>C (p.Gln1090His)
c.*2979G>C (n.*2979G>C)
c.3252G>C (p.Gln1084His)
c.3291G>C (p.Gln1097His)
c.3306G>C (p.Gln1102His)
n.4054G>C
c.3312G>C (p.Gln1104His)
c.3234G>C (p.Gln1078His)
c.3204G>C (p.Gln1068His)
c.3504G>C (p.Gln1168His)
c.3513G>C (p.Gln1171His)
c.2859G>C (p.Gln953His)
c.3303G>C (p.Gln1101His)
9g.135786388G>TCA375491848KCNT1c.3369G>T (p.Gln1123His)
c.3210G>T (p.Gln1070His)
c.3117G>T (p.Gln1039His)
c.3126G>T (p.Gln1042His)
c.3270G>T (p.Gln1090His)
c.*2979G>T (n.*2979G>T)
c.3252G>T (p.Gln1084His)
c.3291G>T (p.Gln1097His)
c.3306G>T (p.Gln1102His)
n.4054G>T
c.3312G>T (p.Gln1104His)
c.3234G>T (p.Gln1078His)
c.3204G>T (p.Gln1068His)
c.3504G>T (p.Gln1168His)
c.3513G>T (p.Gln1171His)
c.2859G>T (p.Gln953His)
c.3303G>T (p.Gln1101His)
9g.135786389G>ACA375491851KCNT1c.3370G>A (p.Ala1124Thr)
c.3211G>A (p.Ala1071Thr)
c.3118G>A (p.Ala1040Thr)
c.3127G>A (p.Ala1043Thr)
c.3271G>A (p.Ala1091Thr)
c.*2980G>A (n.*2980G>A)
c.3253G>A (p.Ala1085Thr)
c.3292G>A (p.Ala1098Thr)
c.3307G>A (p.Ala1103Thr)
n.4055G>A
c.3313G>A (p.Ala1105Thr)
c.3235G>A (p.Ala1079Thr)
c.3205G>A (p.Ala1069Thr)
c.3505G>A (p.Ala1169Thr)
c.3514G>A (p.Ala1172Thr)
c.2860G>A (p.Ala954Thr)
c.3304G>A (p.Ala1102Thr)
 gnomAD v4
9g.135786389G>CCA375491855KCNT1c.3370G>C (p.Ala1124Pro)
c.3211G>C (p.Ala1071Pro)
c.3118G>C (p.Ala1040Pro)
c.3127G>C (p.Ala1043Pro)
c.3271G>C (p.Ala1091Pro)
c.*2980G>C (n.*2980G>C)
c.3253G>C (p.Ala1085Pro)
c.3292G>C (p.Ala1098Pro)
c.3307G>C (p.Ala1103Pro)
n.4055G>C
c.3313G>C (p.Ala1105Pro)
c.3235G>C (p.Ala1079Pro)
c.3205G>C (p.Ala1069Pro)
c.3505G>C (p.Ala1169Pro)
c.3514G>C (p.Ala1172Pro)
c.2860G>C (p.Ala954Pro)
c.3304G>C (p.Ala1102Pro)
9g.135786389G>TCA375491857KCNT1c.3370G>T (p.Ala1124Ser)
c.3211G>T (p.Ala1071Ser)
c.3118G>T (p.Ala1040Ser)
c.3127G>T (p.Ala1043Ser)
c.3271G>T (p.Ala1091Ser)
c.*2980G>T (n.*2980G>T)
c.3253G>T (p.Ala1085Ser)
c.3292G>T (p.Ala1098Ser)
c.3307G>T (p.Ala1103Ser)
n.4055G>T
c.3313G>T (p.Ala1105Ser)
c.3235G>T (p.Ala1079Ser)
c.3205G>T (p.Ala1069Ser)
c.3505G>T (p.Ala1169Ser)
c.3514G>T (p.Ala1172Ser)
c.2860G>T (p.Ala954Ser)
c.3304G>T (p.Ala1102Ser)
9g.135786390C>ACA375491861KCNT1c.3371C>A (p.Ala1124Glu)
c.3212C>A (p.Ala1071Glu)
c.3119C>A (p.Ala1040Glu)
c.3128C>A (p.Ala1043Glu)
c.3272C>A (p.Ala1091Glu)
c.*2981C>A (n.*2981C>A)
c.3254C>A (p.Ala1085Glu)
c.3293C>A (p.Ala1098Glu)
c.3308C>A (p.Ala1103Glu)
n.4056C>A
c.3314C>A (p.Ala1105Glu)
c.3236C>A (p.Ala1079Glu)
c.3206C>A (p.Ala1069Glu)
c.3506C>A (p.Ala1169Glu)
c.3515C>A (p.Ala1172Glu)
c.2861C>A (p.Ala954Glu)
c.3305C>A (p.Ala1102Glu)
9g.135786390C=CA1883888164KCNT1c.3371C= (p.Ala1124=)
c.3212C= (p.Ala1071=)
c.3119C= (p.Ala1040=)
c.3128C= (p.Ala1043=)
c.3272C= (p.Ala1091=)
c.*2981C= (n.*2981C=)
c.3254C= (p.Ala1085=)
c.3293C= (p.Ala1098=)
c.3308C= (p.Ala1103=)
n.4056C=
c.3314C= (p.Ala1105=)
c.3236C= (p.Ala1079=)
c.3206C= (p.Ala1069=)
c.3506C= (p.Ala1169=)
c.3515C= (p.Ala1172=)
c.2861C= (p.Ala954=)
c.3305C= (p.Ala1102=)
9g.135786390C>GCA375491863KCNT1c.3371C>G (p.Ala1124Gly)
c.3212C>G (p.Ala1071Gly)
c.3119C>G (p.Ala1040Gly)
c.3128C>G (p.Ala1043Gly)
c.3272C>G (p.Ala1091Gly)
c.*2981C>G (n.*2981C>G)
c.3254C>G (p.Ala1085Gly)
c.3293C>G (p.Ala1098Gly)
c.3308C>G (p.Ala1103Gly)
n.4056C>G
c.3314C>G (p.Ala1105Gly)
c.3236C>G (p.Ala1079Gly)
c.3206C>G (p.Ala1069Gly)
c.3506C>G (p.Ala1169Gly)
c.3515C>G (p.Ala1172Gly)
c.2861C>G (p.Ala954Gly)
c.3305C>G (p.Ala1102Gly)
9g.135786390C>TCA375491866KCNT1c.3371C>T (p.Ala1124Val)
c.3212C>T (p.Ala1071Val)
c.3119C>T (p.Ala1040Val)
c.3128C>T (p.Ala1043Val)
c.3272C>T (p.Ala1091Val)
c.*2981C>T (n.*2981C>T)
c.3254C>T (p.Ala1085Val)
c.3293C>T (p.Ala1098Val)
c.3308C>T (p.Ala1103Val)
n.4056C>T
c.3314C>T (p.Ala1105Val)
c.3236C>T (p.Ala1079Val)
c.3206C>T (p.Ala1069Val)
c.3506C>T (p.Ala1169Val)
c.3515C>T (p.Ala1172Val)
c.2861C>T (p.Ala954Val)
c.3305C>T (p.Ala1102Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135786391A>CCA467821266KCNT1c.3372A>C (p.Ala1124=)
c.3213A>C (p.Ala1071=)
c.3120A>C (p.Ala1040=)
c.3129A>C (p.Ala1043=)
c.3273A>C (p.Ala1091=)
c.*2982A>C (n.*2982A>C)
c.3255A>C (p.Ala1085=)
c.3294A>C (p.Ala1098=)
c.3309A>C (p.Ala1103=)
n.4057A>C
c.3315A>C (p.Ala1105=)
c.3237A>C (p.Ala1079=)
c.3207A>C (p.Ala1069=)
c.3507A>C (p.Ala1169=)
c.3516A>C (p.Ala1172=)
c.2862A>C (p.Ala954=)
c.3306A>C (p.Ala1102=)
 gnomAD v4
9g.135786391A>GCA467821267KCNT1c.3372A>G (p.Ala1124=)
c.3213A>G (p.Ala1071=)
c.3120A>G (p.Ala1040=)
c.3129A>G (p.Ala1043=)
c.3273A>G (p.Ala1091=)
c.*2982A>G (n.*2982A>G)
c.3255A>G (p.Ala1085=)
c.3294A>G (p.Ala1098=)
c.3309A>G (p.Ala1103=)
n.4057A>G
c.3315A>G (p.Ala1105=)
c.3237A>G (p.Ala1079=)
c.3207A>G (p.Ala1069=)
c.3507A>G (p.Ala1169=)
c.3516A>G (p.Ala1172=)
c.2862A>G (p.Ala954=)
c.3306A>G (p.Ala1102=)
9g.135786391A>TCA467821268KCNT1c.3372A>T (p.Ala1124=)
c.3213A>T (p.Ala1071=)
c.3120A>T (p.Ala1040=)
c.3129A>T (p.Ala1043=)
c.3273A>T (p.Ala1091=)
c.*2982A>T (n.*2982A>T)
c.3255A>T (p.Ala1085=)
c.3294A>T (p.Ala1098=)
c.3309A>T (p.Ala1103=)
n.4057A>T
c.3315A>T (p.Ala1105=)
c.3237A>T (p.Ala1079=)
c.3207A>T (p.Ala1069=)
c.3507A>T (p.Ala1169=)
c.3516A>T (p.Ala1172=)
c.2862A>T (p.Ala954=)
c.3306A>T (p.Ala1102=)
9g.135786392G>ACA375491869KCNT1c.3373G>A (p.Gly1125Ser)
c.3214G>A (p.Gly1072Ser)
c.3121G>A (p.Gly1041Ser)
c.3130G>A (p.Gly1044Ser)
c.3274G>A (p.Gly1092Ser)
c.*2983G>A (n.*2983G>A)
c.3256G>A (p.Gly1086Ser)
c.3295G>A (p.Gly1099Ser)
c.3310G>A (p.Gly1104Ser)
n.4058G>A
c.3316G>A (p.Gly1106Ser)
c.3238G>A (p.Gly1080Ser)
c.3208G>A (p.Gly1070Ser)
c.3508G>A (p.Gly1170Ser)
c.3517G>A (p.Gly1173Ser)
c.2863G>A (p.Gly955Ser)
c.3307G>A (p.Gly1103Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135786392G>CCA375491871KCNT1c.3373G>C (p.Gly1125Arg)
c.3214G>C (p.Gly1072Arg)
c.3121G>C (p.Gly1041Arg)
c.3130G>C (p.Gly1044Arg)
c.3274G>C (p.Gly1092Arg)
c.*2983G>C (n.*2983G>C)
c.3256G>C (p.Gly1086Arg)
c.3295G>C (p.Gly1099Arg)
c.3310G>C (p.Gly1104Arg)
n.4058G>C
c.3316G>C (p.Gly1106Arg)
c.3238G>C (p.Gly1080Arg)
c.3208G>C (p.Gly1070Arg)
c.3508G>C (p.Gly1170Arg)
c.3517G>C (p.Gly1173Arg)
c.2863G>C (p.Gly955Arg)
c.3307G>C (p.Gly1103Arg)
 dbSNP gnomAD v2 gnomAD v4
9g.135786392G=CA1883888169KCNT1c.3373G= (p.Gly1125=)
c.3214G= (p.Gly1072=)
c.3121G= (p.Gly1041=)
c.3130G= (p.Gly1044=)
c.3274G= (p.Gly1092=)
c.*2983G= (n.*2983G=)
c.3256G= (p.Gly1086=)
c.3295G= (p.Gly1099=)
c.3310G= (p.Gly1104=)
n.4058G=
c.3316G= (p.Gly1106=)
c.3238G= (p.Gly1080=)
c.3208G= (p.Gly1070=)
c.3508G= (p.Gly1170=)
c.3517G= (p.Gly1173=)
c.2863G= (p.Gly955=)
c.3307G= (p.Gly1103=)
9g.135786392G>TCA375491873KCNT1c.3373G>T (p.Gly1125Cys)
c.3214G>T (p.Gly1072Cys)
c.3121G>T (p.Gly1041Cys)
c.3130G>T (p.Gly1044Cys)
c.3274G>T (p.Gly1092Cys)
c.*2983G>T (n.*2983G>T)
c.3256G>T (p.Gly1086Cys)
c.3295G>T (p.Gly1099Cys)
c.3310G>T (p.Gly1104Cys)
n.4058G>T
c.3316G>T (p.Gly1106Cys)
c.3238G>T (p.Gly1080Cys)
c.3208G>T (p.Gly1070Cys)
c.3508G>T (p.Gly1170Cys)
c.3517G>T (p.Gly1173Cys)
c.2863G>T (p.Gly955Cys)
c.3307G>T (p.Gly1103Cys)
 gnomAD v4
9g.135786393G>ACA375491881KCNT1c.3374G>A (p.Gly1125Asp)
c.3215G>A (p.Gly1072Asp)
c.3122G>A (p.Gly1041Asp)
c.3131G>A (p.Gly1044Asp)
c.3275G>A (p.Gly1092Asp)
c.*2984G>A (n.*2984G>A)
c.3257G>A (p.Gly1086Asp)
c.3296G>A (p.Gly1099Asp)
c.3311G>A (p.Gly1104Asp)
n.4059G>A
c.3317G>A (p.Gly1106Asp)
c.3239G>A (p.Gly1080Asp)
c.3209G>A (p.Gly1070Asp)
c.3509G>A (p.Gly1170Asp)
c.3518G>A (p.Gly1173Asp)
c.2864G>A (p.Gly955Asp)
c.3308G>A (p.Gly1103Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
9g.135786393G>CCA375491878KCNT1c.3374G>C (p.Gly1125Ala)
c.3215G>C (p.Gly1072Ala)
c.3122G>C (p.Gly1041Ala)
c.3131G>C (p.Gly1044Ala)
c.3275G>C (p.Gly1092Ala)
c.*2984G>C (n.*2984G>C)
c.3257G>C (p.Gly1086Ala)
c.3296G>C (p.Gly1099Ala)
c.3311G>C (p.Gly1104Ala)
n.4059G>C
c.3317G>C (p.Gly1106Ala)
c.3239G>C (p.Gly1080Ala)
c.3209G>C (p.Gly1070Ala)
c.3509G>C (p.Gly1170Ala)
c.3518G>C (p.Gly1173Ala)
c.2864G>C (p.Gly955Ala)
c.3308G>C (p.Gly1103Ala)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135786393G=CA1883888173KCNT1c.3374G= (p.Gly1125=)
c.3215G= (p.Gly1072=)
c.3122G= (p.Gly1041=)
c.3131G= (p.Gly1044=)
c.3275G= (p.Gly1092=)
c.*2984G= (n.*2984G=)
c.3257G= (p.Gly1086=)
c.3296G= (p.Gly1099=)
c.3311G= (p.Gly1104=)
n.4059G=
c.3317G= (p.Gly1106=)
c.3239G= (p.Gly1080=)
c.3209G= (p.Gly1070=)
c.3509G= (p.Gly1170=)
c.3518G= (p.Gly1173=)
c.2864G= (p.Gly955=)
c.3308G= (p.Gly1103=)
9g.135786393G>TCA375491877KCNT1c.3374G>T (p.Gly1125Val)
c.3215G>T (p.Gly1072Val)
c.3122G>T (p.Gly1041Val)
c.3131G>T (p.Gly1044Val)
c.3275G>T (p.Gly1092Val)
c.*2984G>T (n.*2984G>T)
c.3257G>T (p.Gly1086Val)
c.3296G>T (p.Gly1099Val)
c.3311G>T (p.Gly1104Val)
n.4059G>T
c.3317G>T (p.Gly1106Val)
c.3239G>T (p.Gly1080Val)
c.3209G>T (p.Gly1070Val)
c.3509G>T (p.Gly1170Val)
c.3518G>T (p.Gly1173Val)
c.2864G>T (p.Gly955Val)
c.3308G>T (p.Gly1103Val)
9g.135786394C>ACA467821271KCNT1c.3375C>A (p.Gly1125=)
c.3216C>A (p.Gly1072=)
c.3123C>A (p.Gly1041=)
c.3132C>A (p.Gly1044=)
c.3276C>A (p.Gly1092=)
c.*2985C>A (n.*2985C>A)
c.3258C>A (p.Gly1086=)
c.3297C>A (p.Gly1099=)
c.3312C>A (p.Gly1104=)
n.4060C>A
c.3318C>A (p.Gly1106=)
c.3240C>A (p.Gly1080=)
c.3210C>A (p.Gly1070=)
c.3510C>A (p.Gly1170=)
c.3519C>A (p.Gly1173=)
c.2865C>A (p.Gly955=)
c.3309C>A (p.Gly1103=)
9g.135786394C>GCA467821270KCNT1c.3375C>G (p.Gly1125=)
c.3216C>G (p.Gly1072=)
c.3123C>G (p.Gly1041=)
c.3132C>G (p.Gly1044=)
c.3276C>G (p.Gly1092=)
c.*2985C>G (n.*2985C>G)
c.3258C>G (p.Gly1086=)
c.3297C>G (p.Gly1099=)
c.3312C>G (p.Gly1104=)
n.4060C>G
c.3318C>G (p.Gly1106=)
c.3240C>G (p.Gly1080=)
c.3210C>G (p.Gly1070=)
c.3510C>G (p.Gly1170=)
c.3519C>G (p.Gly1173=)
c.2865C>G (p.Gly955=)
c.3309C>G (p.Gly1103=)
9g.135786394C>TCA467821269KCNT1c.3375C>T (p.Gly1125=)
c.3216C>T (p.Gly1072=)
c.3123C>T (p.Gly1041=)
c.3132C>T (p.Gly1044=)
c.3276C>T (p.Gly1092=)
c.*2985C>T (n.*2985C>T)
c.3258C>T (p.Gly1086=)
c.3297C>T (p.Gly1099=)
c.3312C>T (p.Gly1104=)
n.4060C>T
c.3318C>T (p.Gly1106=)
c.3240C>T (p.Gly1080=)
c.3210C>T (p.Gly1070=)
c.3510C>T (p.Gly1170=)
c.3519C>T (p.Gly1173=)
c.2865C>T (p.Gly955=)
c.3309C>T (p.Gly1103=)
 gnomAD v4
9g.135786395C>ACA467821272KCNT1c.3376C>A (p.Arg1126=)
c.3217C>A (p.Arg1073=)
c.3124C>A (p.Arg1042=)
c.3133C>A (p.Arg1045=)
c.3277C>A (p.Arg1093=)
c.*2986C>A (n.*2986C>A)
c.3259C>A (p.Arg1087=)
c.3298C>A (p.Arg1100=)
c.3313C>A (p.Arg1105=)
n.4061C>A
c.3319C>A (p.Arg1107=)
c.3241C>A (p.Arg1081=)
c.3211C>A (p.Arg1071=)
c.3511C>A (p.Arg1171=)
c.3520C>A (p.Arg1174=)
c.2866C>A (p.Arg956=)
c.3310C>A (p.Arg1104=)
 dbSNP
9g.135786395C=CA1883888178KCNT1c.3376C= (p.Arg1126=)
c.3217C= (p.Arg1073=)
c.3124C= (p.Arg1042=)
c.3133C= (p.Arg1045=)
c.3277C= (p.Arg1093=)
c.*2986C= (n.*2986C=)
c.3259C= (p.Arg1087=)
c.3298C= (p.Arg1100=)
c.3313C= (p.Arg1105=)
n.4061C=
c.3319C= (p.Arg1107=)
c.3241C= (p.Arg1081=)
c.3211C= (p.Arg1071=)
c.3511C= (p.Arg1171=)
c.3520C= (p.Arg1174=)
c.2866C= (p.Arg956=)
c.3310C= (p.Arg1104=)
9g.135786395C>GCA375491884KCNT1c.3376C>G (p.Arg1126Gly)
c.3217C>G (p.Arg1073Gly)
c.3124C>G (p.Arg1042Gly)
c.3133C>G (p.Arg1045Gly)
c.3277C>G (p.Arg1093Gly)
c.*2986C>G (n.*2986C>G)
c.3259C>G (p.Arg1087Gly)
c.3298C>G (p.Arg1100Gly)
c.3313C>G (p.Arg1105Gly)
n.4061C>G
c.3319C>G (p.Arg1107Gly)
c.3241C>G (p.Arg1081Gly)
c.3211C>G (p.Arg1071Gly)
c.3511C>G (p.Arg1171Gly)
c.3520C>G (p.Arg1174Gly)
c.2866C>G (p.Arg956Gly)
c.3310C>G (p.Arg1104Gly)
 dbSNP gnomAD v2 gnomAD v4
9g.135786395C>TCA5327793KCNT1c.3376C>T (p.Arg1126Trp)
c.3217C>T (p.Arg1073Trp)
c.3124C>T (p.Arg1042Trp)
c.3133C>T (p.Arg1045Trp)
c.3277C>T (p.Arg1093Trp)
c.*2986C>T (n.*2986C>T)
c.3259C>T (p.Arg1087Trp)
c.3298C>T (p.Arg1100Trp)
c.3313C>T (p.Arg1105Trp)
n.4061C>T
c.3319C>T (p.Arg1107Trp)
c.3241C>T (p.Arg1081Trp)
c.3211C>T (p.Arg1071Trp)
c.3511C>T (p.Arg1171Trp)
c.3520C>T (p.Arg1174Trp)
c.2866C>T (p.Arg956Trp)
c.3310C>T (p.Arg1104Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786395_135786396insCTCA591364974KCNT1c.3376_3377insCT (p.Arg1126ProfsTer29)
c.3217_3218insCT (p.Arg1073ProfsTer29)
c.3124_3125insCT (p.Arg1042ProfsTer29)
c.3133_3134insCT (p.Arg1045ProfsTer29)
c.3277_3278insCT (p.Arg1093ProfsTer29)
c.*2986_*2987insCT (n.*2986_*2987insCT)
c.3259_3260insCT (p.Arg1087ProfsTer29)
c.3298_3299insCT (p.Arg1100ProfsTer29)
c.3313_3314insCT (p.Arg1105ProfsTer29)
n.4061_4062insCT
c.3319_3320insCT (p.Arg1107ProfsTer29)
c.3241_3242insCT (p.Arg1081ProfsTer29)
c.3211_3212insCT (p.Arg1071ProfsTer29)
c.3511_3512insCT (p.Arg1171ProfsTer29)
c.3520_3521insCT (p.Arg1174ProfsTer29)
c.2866_2867insCT (p.Arg956ProfsTer29)
c.3310_3311insCT (p.Arg1104ProfsTer29)
 dbSNP gnomAD v2
9g.135786396G>ACA5327794KCNT1c.3377G>A (p.Arg1126Gln)
c.3218G>A (p.Arg1073Gln)
c.3125G>A (p.Arg1042Gln)
c.3134G>A (p.Arg1045Gln)
c.3278G>A (p.Arg1093Gln)
c.*2987G>A (n.*2987G>A)
c.3260G>A (p.Arg1087Gln)
c.3299G>A (p.Arg1100Gln)
c.3314G>A (p.Arg1105Gln)
n.4062G>A
c.3320G>A (p.Arg1107Gln)
c.3242G>A (p.Arg1081Gln)
c.3212G>A (p.Arg1071Gln)
c.3512G>A (p.Arg1171Gln)
c.3521G>A (p.Arg1174Gln)
c.2867G>A (p.Arg956Gln)
c.3311G>A (p.Arg1104Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786396G>CCA201424258KCNT1c.3377G>C (p.Arg1126Pro)
c.3218G>C (p.Arg1073Pro)
c.3125G>C (p.Arg1042Pro)
c.3134G>C (p.Arg1045Pro)
c.3278G>C (p.Arg1093Pro)
c.*2987G>C (n.*2987G>C)
c.3260G>C (p.Arg1087Pro)
c.3299G>C (p.Arg1100Pro)
c.3314G>C (p.Arg1105Pro)
n.4062G>C
c.3320G>C (p.Arg1107Pro)
c.3242G>C (p.Arg1081Pro)
c.3212G>C (p.Arg1071Pro)
c.3512G>C (p.Arg1171Pro)
c.3521G>C (p.Arg1174Pro)
c.2867G>C (p.Arg956Pro)
c.3311G>C (p.Arg1104Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135786396G=CA1883888189KCNT1c.3377G= (p.Arg1126=)
c.3218G= (p.Arg1073=)
c.3125G= (p.Arg1042=)
c.3134G= (p.Arg1045=)
c.3278G= (p.Arg1093=)
c.*2987G= (n.*2987G=)
c.3260G= (p.Arg1087=)
c.3299G= (p.Arg1100=)
c.3314G= (p.Arg1105=)
n.4062G=
c.3320G= (p.Arg1107=)
c.3242G= (p.Arg1081=)
c.3212G= (p.Arg1071=)
c.3512G= (p.Arg1171=)
c.3521G= (p.Arg1174=)
c.2867G= (p.Arg956=)
c.3311G= (p.Arg1104=)
9g.135786396G>TCA375491886KCNT1c.3377G>T (p.Arg1126Leu)
c.3218G>T (p.Arg1073Leu)
c.3125G>T (p.Arg1042Leu)
c.3134G>T (p.Arg1045Leu)
c.3278G>T (p.Arg1093Leu)
c.*2987G>T (n.*2987G>T)
c.3260G>T (p.Arg1087Leu)
c.3299G>T (p.Arg1100Leu)
c.3314G>T (p.Arg1105Leu)
n.4062G>T
c.3320G>T (p.Arg1107Leu)
c.3242G>T (p.Arg1081Leu)
c.3212G>T (p.Arg1071Leu)
c.3512G>T (p.Arg1171Leu)
c.3521G>T (p.Arg1174Leu)
c.2867G>T (p.Arg956Leu)
c.3311G>T (p.Arg1104Leu)
9g.135786397G>ACA467821273KCNT1c.3378G>A (p.Arg1126=)
c.3219G>A (p.Arg1073=)
c.3126G>A (p.Arg1042=)
c.3135G>A (p.Arg1045=)
c.3279G>A (p.Arg1093=)
c.*2988G>A (n.*2988G>A)
c.3261G>A (p.Arg1087=)
c.3300G>A (p.Arg1100=)
c.3315G>A (p.Arg1105=)
n.4063G>A
c.3321G>A (p.Arg1107=)
c.3243G>A (p.Arg1081=)
c.3213G>A (p.Arg1071=)
c.3513G>A (p.Arg1171=)
c.3522G>A (p.Arg1174=)
c.2868G>A (p.Arg956=)
c.3312G>A (p.Arg1104=)
9g.135786397G>CCA467821274KCNT1c.3378G>C (p.Arg1126=)
c.3219G>C (p.Arg1073=)
c.3126G>C (p.Arg1042=)
c.3135G>C (p.Arg1045=)
c.3279G>C (p.Arg1093=)
c.*2988G>C (n.*2988G>C)
c.3261G>C (p.Arg1087=)
c.3300G>C (p.Arg1100=)
c.3315G>C (p.Arg1105=)
n.4063G>C
c.3321G>C (p.Arg1107=)
c.3243G>C (p.Arg1081=)
c.3213G>C (p.Arg1071=)
c.3513G>C (p.Arg1171=)
c.3522G>C (p.Arg1174=)
c.2868G>C (p.Arg956=)
c.3312G>C (p.Arg1104=)
9g.135786397G=CA1883888193KCNT1c.3378G= (p.Arg1126=)
c.3219G= (p.Arg1073=)
c.3126G= (p.Arg1042=)
c.3135G= (p.Arg1045=)
c.3279G= (p.Arg1093=)
c.*2988G= (n.*2988G=)
c.3261G= (p.Arg1087=)
c.3300G= (p.Arg1100=)
c.3315G= (p.Arg1105=)
n.4063G=
c.3321G= (p.Arg1107=)
c.3243G= (p.Arg1081=)
c.3213G= (p.Arg1071=)
c.3513G= (p.Arg1171=)
c.3522G= (p.Arg1174=)
c.2868G= (p.Arg956=)
c.3312G= (p.Arg1104=)
9g.135786397G>TCA467821275KCNT1c.3378G>T (p.Arg1126=)
c.3219G>T (p.Arg1073=)
c.3126G>T (p.Arg1042=)
c.3135G>T (p.Arg1045=)
c.3279G>T (p.Arg1093=)
c.*2988G>T (n.*2988G>T)
c.3261G>T (p.Arg1087=)
c.3300G>T (p.Arg1100=)
c.3315G>T (p.Arg1105=)
n.4063G>T
c.3321G>T (p.Arg1107=)
c.3243G>T (p.Arg1081=)
c.3213G>T (p.Arg1071=)
c.3513G>T (p.Arg1171=)
c.3522G>T (p.Arg1174=)
c.2868G>T (p.Arg956=)
c.3312G>T (p.Arg1104=)
 dbSNP gnomAD v2
9g.135786398G>ACA375491889KCNT1c.3379G>A (p.Ala1127Thr)
c.3220G>A (p.Ala1074Thr)
c.3127G>A (p.Ala1043Thr)
c.3136G>A (p.Ala1046Thr)
c.3280G>A (p.Ala1094Thr)
c.*2989G>A (n.*2989G>A)
c.3262G>A (p.Ala1088Thr)
c.3301G>A (p.Ala1101Thr)
c.3316G>A (p.Ala1106Thr)
n.4064G>A
c.3322G>A (p.Ala1108Thr)
c.3244G>A (p.Ala1082Thr)
c.3214G>A (p.Ala1072Thr)
c.3514G>A (p.Ala1172Thr)
c.3523G>A (p.Ala1175Thr)
c.2869G>A (p.Ala957Thr)
c.3313G>A (p.Ala1105Thr)
9g.135786398G>CCA375491892KCNT1c.3379G>C (p.Ala1127Pro)
c.3220G>C (p.Ala1074Pro)
c.3127G>C (p.Ala1043Pro)
c.3136G>C (p.Ala1046Pro)
c.3280G>C (p.Ala1094Pro)
c.*2989G>C (n.*2989G>C)
c.3262G>C (p.Ala1088Pro)
c.3301G>C (p.Ala1101Pro)
c.3316G>C (p.Ala1106Pro)
n.4064G>C
c.3322G>C (p.Ala1108Pro)
c.3244G>C (p.Ala1082Pro)
c.3214G>C (p.Ala1072Pro)
c.3514G>C (p.Ala1172Pro)
c.3523G>C (p.Ala1175Pro)
c.2869G>C (p.Ala957Pro)
c.3313G>C (p.Ala1105Pro)
 dbSNP
9g.135786398G=CA1883888199KCNT1c.3379G= (p.Ala1127=)
c.3220G= (p.Ala1074=)
c.3127G= (p.Ala1043=)
c.3136G= (p.Ala1046=)
c.3280G= (p.Ala1094=)
c.*2989G= (n.*2989G=)
c.3262G= (p.Ala1088=)
c.3301G= (p.Ala1101=)
c.3316G= (p.Ala1106=)
n.4064G=
c.3322G= (p.Ala1108=)
c.3244G= (p.Ala1082=)
c.3214G= (p.Ala1072=)
c.3514G= (p.Ala1172=)
c.3523G= (p.Ala1175=)
c.2869G= (p.Ala957=)
c.3313G= (p.Ala1105=)
9g.135786398G>TCA375491895KCNT1c.3379G>T (p.Ala1127Ser)
c.3220G>T (p.Ala1074Ser)
c.3127G>T (p.Ala1043Ser)
c.3136G>T (p.Ala1046Ser)
c.3280G>T (p.Ala1094Ser)
c.*2989G>T (n.*2989G>T)
c.3262G>T (p.Ala1088Ser)
c.3301G>T (p.Ala1101Ser)
c.3316G>T (p.Ala1106Ser)
n.4064G>T
c.3322G>T (p.Ala1108Ser)
c.3244G>T (p.Ala1082Ser)
c.3214G>T (p.Ala1072Ser)
c.3514G>T (p.Ala1172Ser)
c.3523G>T (p.Ala1175Ser)
c.2869G>T (p.Ala957Ser)
c.3313G>T (p.Ala1105Ser)
9g.135786399C>ACA375491898KCNT1c.3380C>A (p.Ala1127Glu)
c.3221C>A (p.Ala1074Glu)
c.3128C>A (p.Ala1043Glu)
c.3137C>A (p.Ala1046Glu)
c.3281C>A (p.Ala1094Glu)
c.*2990C>A (n.*2990C>A)
c.3263C>A (p.Ala1088Glu)
c.3302C>A (p.Ala1101Glu)
c.3317C>A (p.Ala1106Glu)
n.4065C>A
c.3323C>A (p.Ala1108Glu)
c.3245C>A (p.Ala1082Glu)
c.3215C>A (p.Ala1072Glu)
c.3515C>A (p.Ala1172Glu)
c.3524C>A (p.Ala1175Glu)
c.2870C>A (p.Ala957Glu)
c.3314C>A (p.Ala1105Glu)
 gnomAD v4
9g.135786399C=CA1883888205KCNT1c.3380C= (p.Ala1127=)
c.3221C= (p.Ala1074=)
c.3128C= (p.Ala1043=)
c.3137C= (p.Ala1046=)
c.3281C= (p.Ala1094=)
c.*2990C= (n.*2990C=)
c.3263C= (p.Ala1088=)
c.3302C= (p.Ala1101=)
c.3317C= (p.Ala1106=)
n.4065C=
c.3323C= (p.Ala1108=)
c.3245C= (p.Ala1082=)
c.3215C= (p.Ala1072=)
c.3515C= (p.Ala1172=)
c.3524C= (p.Ala1175=)
c.2870C= (p.Ala957=)
c.3314C= (p.Ala1105=)
9g.135786399C>GCA375491901KCNT1c.3380C>G (p.Ala1127Gly)
c.3221C>G (p.Ala1074Gly)
c.3128C>G (p.Ala1043Gly)
c.3137C>G (p.Ala1046Gly)
c.3281C>G (p.Ala1094Gly)
c.*2990C>G (n.*2990C>G)
c.3263C>G (p.Ala1088Gly)
c.3302C>G (p.Ala1101Gly)
c.3317C>G (p.Ala1106Gly)
n.4065C>G
c.3323C>G (p.Ala1108Gly)
c.3245C>G (p.Ala1082Gly)
c.3215C>G (p.Ala1072Gly)
c.3515C>G (p.Ala1172Gly)
c.3524C>G (p.Ala1175Gly)
c.2870C>G (p.Ala957Gly)
c.3314C>G (p.Ala1105Gly)
9g.135786399C>TCA5327795KCNT1c.3380C>T (p.Ala1127Val)
c.3221C>T (p.Ala1074Val)
c.3128C>T (p.Ala1043Val)
c.3137C>T (p.Ala1046Val)
c.3281C>T (p.Ala1094Val)
c.*2990C>T (n.*2990C>T)
c.3263C>T (p.Ala1088Val)
c.3302C>T (p.Ala1101Val)
c.3317C>T (p.Ala1106Val)
n.4065C>T
c.3323C>T (p.Ala1108Val)
c.3245C>T (p.Ala1082Val)
c.3215C>T (p.Ala1072Val)
c.3515C>T (p.Ala1172Val)
c.3524C>T (p.Ala1175Val)
c.2870C>T (p.Ala957Val)
c.3314C>T (p.Ala1105Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.135786399_135786400insCACCTCA591364975KCNT1c.3380_3381insCACCT (p.Ala1128ThrfsTer28)
c.3221_3222insCACCT (p.Ala1075ThrfsTer28)
c.3128_3129insCACCT (p.Ala1044ThrfsTer28)
c.3137_3138insCACCT (p.Ala1047ThrfsTer28)
c.3281_3282insCACCT (p.Ala1095ThrfsTer28)
c.*2990_*2991insCACCT (n.*2990_*2991insCACCT)
c.3263_3264insCACCT (p.Ala1089ThrfsTer28)
c.3302_3303insCACCT (p.Ala1102ThrfsTer28)
c.3317_3318insCACCT (p.Ala1107ThrfsTer28)
c.3323_3324insCACCT (p.Ala1109ThrfsTer28)
c.3245_3246insCACCT (p.Ala1083ThrfsTer28)
c.3215_3216insCACCT (p.Ala1073ThrfsTer28)
c.3515_3516insCACCT (p.Ala1173ThrfsTer28)
c.3524_3525insCACCT (p.Ala1176ThrfsTer28)
c.2870_2871insCACCT (p.Ala958ThrfsTer28)
c.3314_3315insCACCT (p.Ala1106ThrfsTer28)
 dbSNP gnomAD v2
9g.135786400G>ACA5327796KCNT1c.3381G>A (p.Ala1127=)
c.3222G>A (p.Ala1074=)
c.3129G>A (p.Ala1043=)
c.3138G>A (p.Ala1046=)
c.3282G>A (p.Ala1094=)
c.*2991G>A (n.*2991G>A)
c.3264G>A (p.Ala1088=)
c.3303G>A (p.Ala1101=)
c.3318G>A (p.Ala1106=)
c.3324G>A (p.Ala1108=)
c.3246G>A (p.Ala1082=)
c.3216G>A (p.Ala1072=)
c.3516G>A (p.Ala1172=)
c.3525G>A (p.Ala1175=)
c.2871G>A (p.Ala957=)
c.3315G>A (p.Ala1105=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786400G>CCA467821276KCNT1c.3381G>C (p.Ala1127=)
c.3222G>C (p.Ala1074=)
c.3129G>C (p.Ala1043=)
c.3138G>C (p.Ala1046=)
c.3282G>C (p.Ala1094=)
c.*2991G>C (n.*2991G>C)
c.3264G>C (p.Ala1088=)
c.3303G>C (p.Ala1101=)
c.3318G>C (p.Ala1106=)
c.3324G>C (p.Ala1108=)
c.3246G>C (p.Ala1082=)
c.3216G>C (p.Ala1072=)
c.3516G>C (p.Ala1172=)
c.3525G>C (p.Ala1175=)
c.2871G>C (p.Ala957=)
c.3315G>C (p.Ala1105=)
9g.135786400G=CA1883888215KCNT1c.3381G= (p.Ala1127=)
c.3222G= (p.Ala1074=)
c.3129G= (p.Ala1043=)
c.3138G= (p.Ala1046=)
c.3282G= (p.Ala1094=)
c.*2991G= (n.*2991G=)
c.3264G= (p.Ala1088=)
c.3303G= (p.Ala1101=)
c.3318G= (p.Ala1106=)
c.3324G= (p.Ala1108=)
c.3246G= (p.Ala1082=)
c.3216G= (p.Ala1072=)
c.3516G= (p.Ala1172=)
c.3525G= (p.Ala1175=)
c.2871G= (p.Ala957=)
c.3315G= (p.Ala1105=)
9g.135786400G>TCA467821277KCNT1c.3381G>T (p.Ala1127=)
c.3222G>T (p.Ala1074=)
c.3129G>T (p.Ala1043=)
c.3138G>T (p.Ala1046=)
c.3282G>T (p.Ala1094=)
c.*2991G>T (n.*2991G>T)
c.3264G>T (p.Ala1088=)
c.3303G>T (p.Ala1101=)
c.3318G>T (p.Ala1106=)
c.3324G>T (p.Ala1108=)
c.3246G>T (p.Ala1082=)
c.3216G>T (p.Ala1072=)
c.3516G>T (p.Ala1172=)
c.3525G>T (p.Ala1175=)
c.2871G>T (p.Ala957=)
c.3315G>T (p.Ala1105=)
9g.135786400_135786401insCCATCA591364976KCNT1c.3381_3382insCCAT (p.Ala1128ProfsTer19)
c.3222_3223insCCAT (p.Ala1075ProfsTer19)
c.3129_3130insCCAT (p.Ala1044ProfsTer19)
c.3138_3139insCCAT (p.Ala1047ProfsTer19)
c.3282_3283insCCAT (p.Ala1095ProfsTer19)
c.*2991_*2992insCCAT (n.*2991_*2992insCCAT)
c.3264_3265insCCAT (p.Ala1089ProfsTer19)
c.3303_3304insCCAT (p.Ala1102ProfsTer19)
c.3318_3319insCCAT (p.Ala1107ProfsTer19)
c.3324_3325insCCAT (p.Ala1109ProfsTer19)
c.3246_3247insCCAT (p.Ala1083ProfsTer19)
c.3216_3217insCCAT (p.Ala1073ProfsTer19)
c.3516_3517insCCAT (p.Ala1173ProfsTer19)
c.3525_3526insCCAT (p.Ala1176ProfsTer19)
c.2871_2872insCCAT (p.Ala958ProfsTer19)
c.3315_3316insCCAT (p.Ala1106ProfsTer19)
 gnomAD v2
9g.135786401G>ACA5327797KCNT1c.3382G>A (p.Ala1128Thr)
c.3223G>A (p.Ala1075Thr)
c.3130G>A (p.Ala1044Thr)
c.3139G>A (p.Ala1047Thr)
c.3283G>A (p.Ala1095Thr)
c.*2992G>A (n.*2992G>A)
c.3265G>A (p.Ala1089Thr)
c.3304G>A (p.Ala1102Thr)
c.3319G>A (p.Ala1107Thr)
c.3325G>A (p.Ala1109Thr)
c.3247G>A (p.Ala1083Thr)
c.3217G>A (p.Ala1073Thr)
c.3517G>A (p.Ala1173Thr)
c.3526G>A (p.Ala1176Thr)
c.2872G>A (p.Ala958Thr)
c.3316G>A (p.Ala1106Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786401G>CCA375491909KCNT1c.3382G>C (p.Ala1128Pro)
c.3223G>C (p.Ala1075Pro)
c.3130G>C (p.Ala1044Pro)
c.3139G>C (p.Ala1047Pro)
c.3283G>C (p.Ala1095Pro)
c.*2992G>C (n.*2992G>C)
c.3265G>C (p.Ala1089Pro)
c.3304G>C (p.Ala1102Pro)
c.3319G>C (p.Ala1107Pro)
c.3325G>C (p.Ala1109Pro)
c.3247G>C (p.Ala1083Pro)
c.3217G>C (p.Ala1073Pro)
c.3517G>C (p.Ala1173Pro)
c.3526G>C (p.Ala1176Pro)
c.2872G>C (p.Ala958Pro)
c.3316G>C (p.Ala1106Pro)
9g.135786401G=CA1883888222KCNT1c.3382G= (p.Ala1128=)
c.3223G= (p.Ala1075=)
c.3130G= (p.Ala1044=)
c.3139G= (p.Ala1047=)
c.3283G= (p.Ala1095=)
c.*2992G= (n.*2992G=)
c.3265G= (p.Ala1089=)
c.3304G= (p.Ala1102=)
c.3319G= (p.Ala1107=)
c.3325G= (p.Ala1109=)
c.3247G= (p.Ala1083=)
c.3217G= (p.Ala1073=)
c.3517G= (p.Ala1173=)
c.3526G= (p.Ala1176=)
c.2872G= (p.Ala958=)
c.3316G= (p.Ala1106=)
9g.135786401G>TCA375491907KCNT1c.3382G>T (p.Ala1128Ser)
c.3223G>T (p.Ala1075Ser)
c.3130G>T (p.Ala1044Ser)
c.3139G>T (p.Ala1047Ser)
c.3283G>T (p.Ala1095Ser)
c.*2992G>T (n.*2992G>T)
c.3265G>T (p.Ala1089Ser)
c.3304G>T (p.Ala1102Ser)
c.3319G>T (p.Ala1107Ser)
c.3325G>T (p.Ala1109Ser)
c.3247G>T (p.Ala1083Ser)
c.3217G>T (p.Ala1073Ser)
c.3517G>T (p.Ala1173Ser)
c.3526G>T (p.Ala1176Ser)
c.2872G>T (p.Ala958Ser)
c.3316G>T (p.Ala1106Ser)
9g.135786402C>ACA375491911KCNT1c.3383C>A (p.Ala1128Glu)
c.3224C>A (p.Ala1075Glu)
c.3131C>A (p.Ala1044Glu)
c.3140C>A (p.Ala1047Glu)
c.3284C>A (p.Ala1095Glu)
c.*2993C>A (n.*2993C>A)
c.3266C>A (p.Ala1089Glu)
c.3305C>A (p.Ala1102Glu)
c.3320C>A (p.Ala1107Glu)
c.3326C>A (p.Ala1109Glu)
c.3248C>A (p.Ala1083Glu)
c.3218C>A (p.Ala1073Glu)
c.3518C>A (p.Ala1173Glu)
c.3527C>A (p.Ala1176Glu)
c.2873C>A (p.Ala958Glu)
c.3317C>A (p.Ala1106Glu)
 gnomAD v4
9g.135786402C=CA1883888227KCNT1c.3383C= (p.Ala1128=)
c.3224C= (p.Ala1075=)
c.3131C= (p.Ala1044=)
c.3140C= (p.Ala1047=)
c.3284C= (p.Ala1095=)
c.*2993C= (n.*2993C=)
c.3266C= (p.Ala1089=)
c.3305C= (p.Ala1102=)
c.3320C= (p.Ala1107=)
c.3326C= (p.Ala1109=)
c.3248C= (p.Ala1083=)
c.3218C= (p.Ala1073=)
c.3518C= (p.Ala1173=)
c.3527C= (p.Ala1176=)
c.2873C= (p.Ala958=)
c.3317C= (p.Ala1106=)
9g.135786402C>GCA375491913KCNT1c.3383C>G (p.Ala1128Gly)
c.3224C>G (p.Ala1075Gly)
c.3131C>G (p.Ala1044Gly)
c.3140C>G (p.Ala1047Gly)
c.3284C>G (p.Ala1095Gly)
c.*2993C>G (n.*2993C>G)
c.3266C>G (p.Ala1089Gly)
c.3305C>G (p.Ala1102Gly)
c.3320C>G (p.Ala1107Gly)
c.3326C>G (p.Ala1109Gly)
c.3248C>G (p.Ala1083Gly)
c.3218C>G (p.Ala1073Gly)
c.3518C>G (p.Ala1173Gly)
c.3527C>G (p.Ala1176Gly)
c.2873C>G (p.Ala958Gly)
c.3317C>G (p.Ala1106Gly)
9g.135786402C>TCA5327798KCNT1c.3383C>T (p.Ala1128Val)
c.3224C>T (p.Ala1075Val)
c.3131C>T (p.Ala1044Val)
c.3140C>T (p.Ala1047Val)
c.3284C>T (p.Ala1095Val)
c.*2993C>T (n.*2993C>T)
c.3266C>T (p.Ala1089Val)
c.3305C>T (p.Ala1102Val)
c.3320C>T (p.Ala1107Val)
c.3326C>T (p.Ala1109Val)
c.3248C>T (p.Ala1083Val)
c.3218C>T (p.Ala1073Val)
c.3518C>T (p.Ala1173Val)
c.3527C>T (p.Ala1176Val)
c.2873C>T (p.Ala958Val)
c.3317C>T (p.Ala1106Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786403G>ACA5327799KCNT1c.3384G>A (p.Ala1128=)
c.3225G>A (p.Ala1075=)
c.3132G>A (p.Ala1044=)
c.3141G>A (p.Ala1047=)
c.3285G>A (p.Ala1095=)
c.*2994G>A (n.*2994G>A)
c.3267G>A (p.Ala1089=)
c.3306G>A (p.Ala1102=)
c.3321G>A (p.Ala1107=)
c.3327G>A (p.Ala1109=)
c.3249G>A (p.Ala1083=)
c.3219G>A (p.Ala1073=)
c.3519G>A (p.Ala1173=)
c.3528G>A (p.Ala1176=)
c.2874G>A (p.Ala958=)
c.3318G>A (p.Ala1106=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786403G>CCA467821278KCNT1c.3384G>C (p.Ala1128=)
c.3225G>C (p.Ala1075=)
c.3132G>C (p.Ala1044=)
c.3141G>C (p.Ala1047=)
c.3285G>C (p.Ala1095=)
c.*2994G>C (n.*2994G>C)
c.3267G>C (p.Ala1089=)
c.3306G>C (p.Ala1102=)
c.3321G>C (p.Ala1107=)
c.3327G>C (p.Ala1109=)
c.3249G>C (p.Ala1083=)
c.3219G>C (p.Ala1073=)
c.3519G>C (p.Ala1173=)
c.3528G>C (p.Ala1176=)
c.2874G>C (p.Ala958=)
c.3318G>C (p.Ala1106=)
9g.135786403G=CA1883888233KCNT1c.3384G= (p.Ala1128=)
c.3225G= (p.Ala1075=)
c.3132G= (p.Ala1044=)
c.3141G= (p.Ala1047=)
c.3285G= (p.Ala1095=)
c.*2994G= (n.*2994G=)
c.3267G= (p.Ala1089=)
c.3306G= (p.Ala1102=)
c.3321G= (p.Ala1107=)
c.3327G= (p.Ala1109=)
c.3249G= (p.Ala1083=)
c.3219G= (p.Ala1073=)
c.3519G= (p.Ala1173=)
c.3528G= (p.Ala1176=)
c.2874G= (p.Ala958=)
c.3318G= (p.Ala1106=)
9g.135786403G>TCA467821279KCNT1c.3384G>T (p.Ala1128=)
c.3225G>T (p.Ala1075=)
c.3132G>T (p.Ala1044=)
c.3141G>T (p.Ala1047=)
c.3285G>T (p.Ala1095=)
c.*2994G>T (n.*2994G>T)
c.3267G>T (p.Ala1089=)
c.3306G>T (p.Ala1102=)
c.3321G>T (p.Ala1107=)
c.3327G>T (p.Ala1109=)
c.3249G>T (p.Ala1083=)
c.3219G>T (p.Ala1073=)
c.3519G>T (p.Ala1173=)
c.3528G>T (p.Ala1176=)
c.2874G>T (p.Ala958=)
c.3318G>T (p.Ala1106=)
 gnomAD v4
9g.135786404G>ACA375491919KCNT1c.3385G>A (p.Ala1129Thr)
c.3226G>A (p.Ala1076Thr)
c.3133G>A (p.Ala1045Thr)
c.3142G>A (p.Ala1048Thr)
c.3286G>A (p.Ala1096Thr)
c.*2995G>A (n.*2995G>A)
c.3268G>A (p.Ala1090Thr)
c.3307G>A (p.Ala1103Thr)
c.3322G>A (p.Ala1108Thr)
c.3328G>A (p.Ala1110Thr)
c.3250G>A (p.Ala1084Thr)
c.3220G>A (p.Ala1074Thr)
c.3520G>A (p.Ala1174Thr)
c.3529G>A (p.Ala1177Thr)
c.2875G>A (p.Ala959Thr)
c.3319G>A (p.Ala1107Thr)
 ClinVar dbSNP gnomAD v4
9g.135786404G>CCA375491921KCNT1c.3385G>C (p.Ala1129Pro)
c.3226G>C (p.Ala1076Pro)
c.3133G>C (p.Ala1045Pro)
c.3142G>C (p.Ala1048Pro)
c.3286G>C (p.Ala1096Pro)
c.*2995G>C (n.*2995G>C)
c.3268G>C (p.Ala1090Pro)
c.3307G>C (p.Ala1103Pro)
c.3322G>C (p.Ala1108Pro)
c.3328G>C (p.Ala1110Pro)
c.3250G>C (p.Ala1084Pro)
c.3220G>C (p.Ala1074Pro)
c.3520G>C (p.Ala1174Pro)
c.3529G>C (p.Ala1177Pro)
c.2875G>C (p.Ala959Pro)
c.3319G>C (p.Ala1107Pro)
9g.135786404G=CA1883888239KCNT1c.3385G= (p.Ala1129=)
c.3226G= (p.Ala1076=)
c.3133G= (p.Ala1045=)
c.3142G= (p.Ala1048=)
c.3286G= (p.Ala1096=)
c.*2995G= (n.*2995G=)
c.3268G= (p.Ala1090=)
c.3307G= (p.Ala1103=)
c.3322G= (p.Ala1108=)
c.3328G= (p.Ala1110=)
c.3250G= (p.Ala1084=)
c.3220G= (p.Ala1074=)
c.3520G= (p.Ala1174=)
c.3529G= (p.Ala1177=)
c.2875G= (p.Ala959=)
c.3319G= (p.Ala1107=)
9g.135786404G>TCA375491924KCNT1c.3385G>T (p.Ala1129Ser)
c.3226G>T (p.Ala1076Ser)
c.3133G>T (p.Ala1045Ser)
c.3142G>T (p.Ala1048Ser)
c.3286G>T (p.Ala1096Ser)
c.*2995G>T (n.*2995G>T)
c.3268G>T (p.Ala1090Ser)
c.3307G>T (p.Ala1103Ser)
c.3322G>T (p.Ala1108Ser)
c.3328G>T (p.Ala1110Ser)
c.3250G>T (p.Ala1084Ser)
c.3220G>T (p.Ala1074Ser)
c.3520G>T (p.Ala1174Ser)
c.3529G>T (p.Ala1177Ser)
c.2875G>T (p.Ala959Ser)
c.3319G>T (p.Ala1107Ser)
 ClinVar gnomAD v4
9g.135786405C>ACA375491927KCNT1c.3386C>A (p.Ala1129Asp)
c.3227C>A (p.Ala1076Asp)
c.3134C>A (p.Ala1045Asp)
c.3143C>A (p.Ala1048Asp)
c.3287C>A (p.Ala1096Asp)
c.*2996C>A (n.*2996C>A)
c.3269C>A (p.Ala1090Asp)
c.3308C>A (p.Ala1103Asp)
c.3323C>A (p.Ala1108Asp)
c.3329C>A (p.Ala1110Asp)
c.3251C>A (p.Ala1084Asp)
c.3221C>A (p.Ala1074Asp)
c.3521C>A (p.Ala1174Asp)
c.3530C>A (p.Ala1177Asp)
c.2876C>A (p.Ala959Asp)
c.3320C>A (p.Ala1107Asp)
9g.135786405C=CA1883888243KCNT1c.3386C= (p.Ala1129=)
c.3227C= (p.Ala1076=)
c.3134C= (p.Ala1045=)
c.3143C= (p.Ala1048=)
c.3287C= (p.Ala1096=)
c.*2996C= (n.*2996C=)
c.3269C= (p.Ala1090=)
c.3308C= (p.Ala1103=)
c.3323C= (p.Ala1108=)
c.3329C= (p.Ala1110=)
c.3251C= (p.Ala1084=)
c.3221C= (p.Ala1074=)
c.3521C= (p.Ala1174=)
c.3530C= (p.Ala1177=)
c.2876C= (p.Ala959=)
c.3320C= (p.Ala1107=)
9g.135786405C>GCA375491929KCNT1c.3386C>G (p.Ala1129Gly)
c.3227C>G (p.Ala1076Gly)
c.3134C>G (p.Ala1045Gly)
c.3143C>G (p.Ala1048Gly)
c.3287C>G (p.Ala1096Gly)
c.*2996C>G (n.*2996C>G)
c.3269C>G (p.Ala1090Gly)
c.3308C>G (p.Ala1103Gly)
c.3323C>G (p.Ala1108Gly)
c.3329C>G (p.Ala1110Gly)
c.3251C>G (p.Ala1084Gly)
c.3221C>G (p.Ala1074Gly)
c.3521C>G (p.Ala1174Gly)
c.3530C>G (p.Ala1177Gly)
c.2876C>G (p.Ala959Gly)
c.3320C>G (p.Ala1107Gly)
9g.135786405C>TCA5327800KCNT1c.3386C>T (p.Ala1129Val)
c.3227C>T (p.Ala1076Val)
c.3134C>T (p.Ala1045Val)
c.3143C>T (p.Ala1048Val)
c.3287C>T (p.Ala1096Val)
c.*2996C>T (n.*2996C>T)
c.3269C>T (p.Ala1090Val)
c.3308C>T (p.Ala1103Val)
c.3323C>T (p.Ala1108Val)
c.3329C>T (p.Ala1110Val)
c.3251C>T (p.Ala1084Val)
c.3221C>T (p.Ala1074Val)
c.3521C>T (p.Ala1174Val)
c.3530C>T (p.Ala1177Val)
c.2876C>T (p.Ala959Val)
c.3320C>T (p.Ala1107Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135786406C>ACA467821280KCNT1c.3387C>A (p.Ala1129=)
c.3228C>A (p.Ala1076=)
c.3135C>A (p.Ala1045=)
c.3144C>A (p.Ala1048=)
c.3288C>A (p.Ala1096=)
c.*2997C>A (n.*2997C>A)
c.3270C>A (p.Ala1090=)
c.3309C>A (p.Ala1103=)
c.3324C>A (p.Ala1108=)
c.3330C>A (p.Ala1110=)
c.3252C>A (p.Ala1084=)
c.3222C>A (p.Ala1074=)
c.3522C>A (p.Ala1174=)
c.3531C>A (p.Ala1177=)
c.2877C>A (p.Ala959=)
c.3321C>A (p.Ala1107=)
9g.135786406C=CA1883888247KCNT1c.3387C= (p.Ala1129=)
c.3228C= (p.Ala1076=)
c.3135C= (p.Ala1045=)
c.3144C= (p.Ala1048=)
c.3288C= (p.Ala1096=)
c.*2997C= (n.*2997C=)
c.3270C= (p.Ala1090=)
c.3309C= (p.Ala1103=)
c.3324C= (p.Ala1108=)
c.3330C= (p.Ala1110=)
c.3252C= (p.Ala1084=)
c.3222C= (p.Ala1074=)
c.3522C= (p.Ala1174=)
c.3531C= (p.Ala1177=)
c.2877C= (p.Ala959=)
c.3321C= (p.Ala1107=)
9g.135786406C>GCA5327802KCNT1c.3387C>G (p.Ala1129=)
c.3228C>G (p.Ala1076=)
c.3135C>G (p.Ala1045=)
c.3144C>G (p.Ala1048=)
c.3288C>G (p.Ala1096=)
c.*2997C>G (n.*2997C>G)
c.3270C>G (p.Ala1090=)
c.3309C>G (p.Ala1103=)
c.3324C>G (p.Ala1108=)
c.3330C>G (p.Ala1110=)
c.3252C>G (p.Ala1084=)
c.3222C>G (p.Ala1074=)
c.3522C>G (p.Ala1174=)
c.3531C>G (p.Ala1177=)
c.2877C>G (p.Ala959=)
c.3321C>G (p.Ala1107=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
9g.135786406C>TCA5327801KCNT1c.3387C>T (p.Ala1129=)
c.3228C>T (p.Ala1076=)
c.3135C>T (p.Ala1045=)
c.3144C>T (p.Ala1048=)
c.3288C>T (p.Ala1096=)
c.*2997C>T (n.*2997C>T)
c.3270C>T (p.Ala1090=)
c.3309C>T (p.Ala1103=)
c.3324C>T (p.Ala1108=)
c.3330C>T (p.Ala1110=)
c.3252C>T (p.Ala1084=)
c.3222C>T (p.Ala1074=)
c.3522C>T (p.Ala1174=)
c.3531C>T (p.Ala1177=)
c.2877C>T (p.Ala959=)
c.3321C>T (p.Ala1107=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786407G>ACA153316KCNT1c.3388G>A (p.Ala1130Thr)
c.3229G>A (p.Ala1077Thr)
c.3136G>A (p.Ala1046Thr)
c.3145G>A (p.Ala1049Thr)
c.3289G>A (p.Ala1097Thr)
c.*2998G>A (n.*2998G>A)
c.3271G>A (p.Ala1091Thr)
c.3310G>A (p.Ala1104Thr)
c.3325G>A (p.Ala1109Thr)
c.3331G>A (p.Ala1111Thr)
c.3253G>A (p.Ala1085Thr)
c.3223G>A (p.Ala1075Thr)
c.3523G>A (p.Ala1175Thr)
c.3532G>A (p.Ala1178Thr)
c.2878G>A (p.Ala960Thr)
c.3322G>A (p.Ala1108Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
9g.135786407G>CCA375491937KCNT1c.3388G>C (p.Ala1130Pro)
c.3229G>C (p.Ala1077Pro)
c.3136G>C (p.Ala1046Pro)
c.3145G>C (p.Ala1049Pro)
c.3289G>C (p.Ala1097Pro)
c.*2998G>C (n.*2998G>C)
c.3271G>C (p.Ala1091Pro)
c.3310G>C (p.Ala1104Pro)
c.3325G>C (p.Ala1109Pro)
c.3331G>C (p.Ala1111Pro)
c.3253G>C (p.Ala1085Pro)
c.3223G>C (p.Ala1075Pro)
c.3523G>C (p.Ala1175Pro)
c.3532G>C (p.Ala1178Pro)
c.2878G>C (p.Ala960Pro)
c.3322G>C (p.Ala1108Pro)
9g.135786407G=CA1883888263KCNT1c.3388G= (p.Ala1130=)
c.3229G= (p.Ala1077=)
c.3136G= (p.Ala1046=)
c.3145G= (p.Ala1049=)
c.3289G= (p.Ala1097=)
c.*2998G= (n.*2998G=)
c.3271G= (p.Ala1091=)
c.3310G= (p.Ala1104=)
c.3325G= (p.Ala1109=)
c.3331G= (p.Ala1111=)
c.3253G= (p.Ala1085=)
c.3223G= (p.Ala1075=)
c.3523G= (p.Ala1175=)
c.3532G= (p.Ala1178=)
c.2878G= (p.Ala960=)
c.3322G= (p.Ala1108=)
9g.135786407G>TCA375491940KCNT1c.3388G>T (p.Ala1130Ser)
c.3229G>T (p.Ala1077Ser)
c.3136G>T (p.Ala1046Ser)
c.3145G>T (p.Ala1049Ser)
c.3289G>T (p.Ala1097Ser)
c.*2998G>T (n.*2998G>T)
c.3271G>T (p.Ala1091Ser)
c.3310G>T (p.Ala1104Ser)
c.3325G>T (p.Ala1109Ser)
c.3331G>T (p.Ala1111Ser)
c.3253G>T (p.Ala1085Ser)
c.3223G>T (p.Ala1075Ser)
c.3523G>T (p.Ala1175Ser)
c.3532G>T (p.Ala1178Ser)
c.2878G>T (p.Ala960Ser)
c.3322G>T (p.Ala1108Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135786408C>ACA375491941KCNT1c.3389C>A (p.Ala1130Glu)
c.3230C>A (p.Ala1077Glu)
c.3137C>A (p.Ala1046Glu)
c.3146C>A (p.Ala1049Glu)
c.3290C>A (p.Ala1097Glu)
c.*2999C>A (n.*2999C>A)
c.3272C>A (p.Ala1091Glu)
c.3311C>A (p.Ala1104Glu)
c.3326C>A (p.Ala1109Glu)
c.3332C>A (p.Ala1111Glu)
c.3254C>A (p.Ala1085Glu)
c.3224C>A (p.Ala1075Glu)
c.3524C>A (p.Ala1175Glu)
c.3533C>A (p.Ala1178Glu)
c.2879C>A (p.Ala960Glu)
c.3323C>A (p.Ala1108Glu)
9g.135786408C=CA1883888267KCNT1c.3389C= (p.Ala1130=)
c.3230C= (p.Ala1077=)
c.3137C= (p.Ala1046=)
c.3146C= (p.Ala1049=)
c.3290C= (p.Ala1097=)
c.*2999C= (n.*2999C=)
c.3272C= (p.Ala1091=)
c.3311C= (p.Ala1104=)
c.3326C= (p.Ala1109=)
c.3332C= (p.Ala1111=)
c.3254C= (p.Ala1085=)
c.3224C= (p.Ala1075=)
c.3524C= (p.Ala1175=)
c.3533C= (p.Ala1178=)
c.2879C= (p.Ala960=)
c.3323C= (p.Ala1108=)
9g.135786408C>GCA375491944KCNT1c.3389C>G (p.Ala1130Gly)
c.3230C>G (p.Ala1077Gly)
c.3137C>G (p.Ala1046Gly)
c.3146C>G (p.Ala1049Gly)
c.3290C>G (p.Ala1097Gly)
c.*2999C>G (n.*2999C>G)
c.3272C>G (p.Ala1091Gly)
c.3311C>G (p.Ala1104Gly)
c.3326C>G (p.Ala1109Gly)
c.3332C>G (p.Ala1111Gly)
c.3254C>G (p.Ala1085Gly)
c.3224C>G (p.Ala1075Gly)
c.3524C>G (p.Ala1175Gly)
c.3533C>G (p.Ala1178Gly)
c.2879C>G (p.Ala960Gly)
c.3323C>G (p.Ala1108Gly)
9g.135786408C>TCA5327803KCNT1c.3389C>T (p.Ala1130Val)
c.3230C>T (p.Ala1077Val)
c.3137C>T (p.Ala1046Val)
c.3146C>T (p.Ala1049Val)
c.3290C>T (p.Ala1097Val)
c.*2999C>T (n.*2999C>T)
c.3272C>T (p.Ala1091Val)
c.3311C>T (p.Ala1104Val)
c.3326C>T (p.Ala1109Val)
c.3332C>T (p.Ala1111Val)
c.3254C>T (p.Ala1085Val)
c.3224C>T (p.Ala1075Val)
c.3524C>T (p.Ala1175Val)
c.3533C>T (p.Ala1178Val)
c.2879C>T (p.Ala960Val)
c.3323C>T (p.Ala1108Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786409G>ACA153318KCNT1c.3390G>A (p.Ala1130=)
c.3231G>A (p.Ala1077=)
c.3138G>A (p.Ala1046=)
c.3147G>A (p.Ala1049=)
c.3291G>A (p.Ala1097=)
c.*3000G>A (n.*3000G>A)
c.3273G>A (p.Ala1091=)
c.3312G>A (p.Ala1104=)
c.3327G>A (p.Ala1109=)
c.3333G>A (p.Ala1111=)
c.3255G>A (p.Ala1085=)
c.3225G>A (p.Ala1075=)
c.3525G>A (p.Ala1175=)
c.3534G>A (p.Ala1178=)
c.2880G>A (p.Ala960=)
c.3324G>A (p.Ala1108=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.135786409G>CCA467821281KCNT1c.3390G>C (p.Ala1130=)
c.3231G>C (p.Ala1077=)
c.3138G>C (p.Ala1046=)
c.3147G>C (p.Ala1049=)
c.3291G>C (p.Ala1097=)
c.*3000G>C (n.*3000G>C)
c.3273G>C (p.Ala1091=)
c.3312G>C (p.Ala1104=)
c.3327G>C (p.Ala1109=)
c.3333G>C (p.Ala1111=)
c.3255G>C (p.Ala1085=)
c.3225G>C (p.Ala1075=)
c.3525G>C (p.Ala1175=)
c.3534G>C (p.Ala1178=)
c.2880G>C (p.Ala960=)
c.3324G>C (p.Ala1108=)
9g.135786409G=CA1883888272KCNT1c.3390G= (p.Ala1130=)
c.3231G= (p.Ala1077=)
c.3138G= (p.Ala1046=)
c.3147G= (p.Ala1049=)
c.3291G= (p.Ala1097=)
c.*3000G= (n.*3000G=)
c.3273G= (p.Ala1091=)
c.3312G= (p.Ala1104=)
c.3327G= (p.Ala1109=)
c.3333G= (p.Ala1111=)
c.3255G= (p.Ala1085=)
c.3225G= (p.Ala1075=)
c.3525G= (p.Ala1175=)
c.3534G= (p.Ala1178=)
c.2880G= (p.Ala960=)
c.3324G= (p.Ala1108=)
9g.135786409G>TCA467821282KCNT1c.3390G>T (p.Ala1130=)
c.3231G>T (p.Ala1077=)
c.3138G>T (p.Ala1046=)
c.3147G>T (p.Ala1049=)
c.3291G>T (p.Ala1097=)
c.*3000G>T (n.*3000G>T)
c.3273G>T (p.Ala1091=)
c.3312G>T (p.Ala1104=)
c.3327G>T (p.Ala1109=)
c.3333G>T (p.Ala1111=)
c.3255G>T (p.Ala1085=)
c.3225G>T (p.Ala1075=)
c.3525G>T (p.Ala1175=)
c.3534G>T (p.Ala1178=)
c.2880G>T (p.Ala960=)
c.3324G>T (p.Ala1108=)
9g.135786410G>ACA375491948KCNT1c.3391G>A (p.Glu1131Lys)
c.3232G>A (p.Glu1078Lys)
c.3139G>A (p.Glu1047Lys)
c.3148G>A (p.Glu1050Lys)
c.3292G>A (p.Glu1098Lys)
c.*3001G>A (n.*3001G>A)
c.3274G>A (p.Glu1092Lys)
c.3313G>A (p.Glu1105Lys)
c.3328G>A (p.Glu1110Lys)
c.3334G>A (p.Glu1112Lys)
c.3256G>A (p.Glu1086Lys)
c.3226G>A (p.Glu1076Lys)
c.3526G>A (p.Glu1176Lys)
c.3535G>A (p.Glu1179Lys)
c.2881G>A (p.Glu961Lys)
c.3325G>A (p.Glu1109Lys)
 ClinVar dbSNP
9g.135786410G>CCA375491950KCNT1c.3391G>C (p.Glu1131Gln)
c.3232G>C (p.Glu1078Gln)
c.3139G>C (p.Glu1047Gln)
c.3148G>C (p.Glu1050Gln)
c.3292G>C (p.Glu1098Gln)
c.*3001G>C (n.*3001G>C)
c.3274G>C (p.Glu1092Gln)
c.3313G>C (p.Glu1105Gln)
c.3328G>C (p.Glu1110Gln)
c.3334G>C (p.Glu1112Gln)
c.3256G>C (p.Glu1086Gln)
c.3226G>C (p.Glu1076Gln)
c.3526G>C (p.Glu1176Gln)
c.3535G>C (p.Glu1179Gln)
c.2881G>C (p.Glu961Gln)
c.3325G>C (p.Glu1109Gln)
9g.135786410G>TCA375491953KCNT1c.3391G>T (p.Glu1131Ter)
c.3232G>T (p.Glu1078Ter)
c.3139G>T (p.Glu1047Ter)
c.3148G>T (p.Glu1050Ter)
c.3292G>T (p.Glu1098Ter)
c.*3001G>T (n.*3001G>T)
c.3274G>T (p.Glu1092Ter)
c.3313G>T (p.Glu1105Ter)
c.3328G>T (p.Glu1110Ter)
c.3334G>T (p.Glu1112Ter)
c.3256G>T (p.Glu1086Ter)
c.3226G>T (p.Glu1076Ter)
c.3526G>T (p.Glu1176Ter)
c.3535G>T (p.Glu1179Ter)
c.2881G>T (p.Glu961Ter)
c.3325G>T (p.Glu1109Ter)
9g.135786411A=CA1883888278KCNT1c.3392A= (p.Glu1131=)
c.3233A= (p.Glu1078=)
c.3140A= (p.Glu1047=)
c.3149A= (p.Glu1050=)
c.3293A= (p.Glu1098=)
c.*3002A= (n.*3002A=)
c.3275A= (p.Glu1092=)
c.3314A= (p.Glu1105=)
c.3329A= (p.Glu1110=)
c.3335A= (p.Glu1112=)
c.3257A= (p.Glu1086=)
c.3227A= (p.Glu1076=)
c.3527A= (p.Glu1176=)
c.3536A= (p.Glu1179=)
c.2882A= (p.Glu961=)
c.3326A= (p.Glu1109=)
9g.135786411A>CCA375491956KCNT1c.3392A>C (p.Glu1131Ala)
c.3233A>C (p.Glu1078Ala)
c.3140A>C (p.Glu1047Ala)
c.3149A>C (p.Glu1050Ala)
c.3293A>C (p.Glu1098Ala)
c.*3002A>C (n.*3002A>C)
c.3275A>C (p.Glu1092Ala)
c.3314A>C (p.Glu1105Ala)
c.3329A>C (p.Glu1110Ala)
c.3335A>C (p.Glu1112Ala)
c.3257A>C (p.Glu1086Ala)
c.3227A>C (p.Glu1076Ala)
c.3527A>C (p.Glu1176Ala)
c.3536A>C (p.Glu1179Ala)
c.2882A>C (p.Glu961Ala)
c.3326A>C (p.Glu1109Ala)
 dbSNP
9g.135786411A>GCA375491958KCNT1c.3392A>G (p.Glu1131Gly)
c.3233A>G (p.Glu1078Gly)
c.3140A>G (p.Glu1047Gly)
c.3149A>G (p.Glu1050Gly)
c.3293A>G (p.Glu1098Gly)
c.*3002A>G (n.*3002A>G)
c.3275A>G (p.Glu1092Gly)
c.3314A>G (p.Glu1105Gly)
c.3329A>G (p.Glu1110Gly)
c.3335A>G (p.Glu1112Gly)
c.3257A>G (p.Glu1086Gly)
c.3227A>G (p.Glu1076Gly)
c.3527A>G (p.Glu1176Gly)
c.3536A>G (p.Glu1179Gly)
c.2882A>G (p.Glu961Gly)
c.3326A>G (p.Glu1109Gly)
9g.135786411A>TCA375491961KCNT1c.3392A>T (p.Glu1131Val)
c.3233A>T (p.Glu1078Val)
c.3140A>T (p.Glu1047Val)
c.3149A>T (p.Glu1050Val)
c.3293A>T (p.Glu1098Val)
c.*3002A>T (n.*3002A>T)
c.3275A>T (p.Glu1092Val)
c.3314A>T (p.Glu1105Val)
c.3329A>T (p.Glu1110Val)
c.3335A>T (p.Glu1112Val)
c.3257A>T (p.Glu1086Val)
c.3227A>T (p.Glu1076Val)
c.3527A>T (p.Glu1176Val)
c.3536A>T (p.Glu1179Val)
c.2882A>T (p.Glu961Val)
c.3326A>T (p.Glu1109Val)
9g.135786412G>ACA201424340KCNT1c.3393G>A (p.Glu1131=)
c.3234G>A (p.Glu1078=)
c.3141G>A (p.Glu1047=)
c.3150G>A (p.Glu1050=)
c.3294G>A (p.Glu1098=)
c.*3003G>A (n.*3003G>A)
c.3276G>A (p.Glu1092=)
c.3315G>A (p.Glu1105=)
c.3330G>A (p.Glu1110=)
c.3336G>A (p.Glu1112=)
c.3258G>A (p.Glu1086=)
c.3228G>A (p.Glu1076=)
c.3528G>A (p.Glu1176=)
c.3537G>A (p.Glu1179=)
c.2883G>A (p.Glu961=)
c.3327G>A (p.Glu1109=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.135786412G>CCA375491964KCNT1c.3393G>C (p.Glu1131Asp)
c.3234G>C (p.Glu1078Asp)
c.3141G>C (p.Glu1047Asp)
c.3150G>C (p.Glu1050Asp)
c.3294G>C (p.Glu1098Asp)
c.*3003G>C (n.*3003G>C)
c.3276G>C (p.Glu1092Asp)
c.3315G>C (p.Glu1105Asp)
c.3330G>C (p.Glu1110Asp)
c.3336G>C (p.Glu1112Asp)
c.3258G>C (p.Glu1086Asp)
c.3228G>C (p.Glu1076Asp)
c.3528G>C (p.Glu1176Asp)
c.3537G>C (p.Glu1179Asp)
c.2883G>C (p.Glu961Asp)
c.3327G>C (p.Glu1109Asp)
9g.135786412G=CA1883888284KCNT1c.3393G= (p.Glu1131=)
c.3234G= (p.Glu1078=)
c.3141G= (p.Glu1047=)
c.3150G= (p.Glu1050=)
c.3294G= (p.Glu1098=)
c.*3003G= (n.*3003G=)
c.3276G= (p.Glu1092=)
c.3315G= (p.Glu1105=)
c.3330G= (p.Glu1110=)
c.3336G= (p.Glu1112=)
c.3258G= (p.Glu1086=)
c.3228G= (p.Glu1076=)
c.3528G= (p.Glu1176=)
c.3537G= (p.Glu1179=)
c.2883G= (p.Glu961=)
c.3327G= (p.Glu1109=)
9g.135786412G>TCA5327804KCNT1c.3393G>T (p.Glu1131Asp)
c.3234G>T (p.Glu1078Asp)
c.3141G>T (p.Glu1047Asp)
c.3150G>T (p.Glu1050Asp)
c.3294G>T (p.Glu1098Asp)
c.*3003G>T (n.*3003G>T)
c.3276G>T (p.Glu1092Asp)
c.3315G>T (p.Glu1105Asp)
c.3330G>T (p.Glu1110Asp)
c.3336G>T (p.Glu1112Asp)
c.3258G>T (p.Glu1086Asp)
c.3228G>T (p.Glu1076Asp)
c.3528G>T (p.Glu1176Asp)
c.3537G>T (p.Glu1179Asp)
c.2883G>T (p.Glu961Asp)
c.3327G>T (p.Glu1109Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.135786413T>ACA375491968KCNT1c.3394T>A (p.Trp1132Arg)
c.3235T>A (p.Trp1079Arg)
c.3142T>A (p.Trp1048Arg)
c.3151T>A (p.Trp1051Arg)
c.3295T>A (p.Trp1099Arg)
c.*3004T>A (n.*3004T>A)
c.3277T>A (p.Trp1093Arg)
c.3316T>A (p.Trp1106Arg)
c.3331T>A (p.Trp1111Arg)
c.3337T>A (p.Trp1113Arg)
c.3259T>A (p.Trp1087Arg)
c.3229T>A (p.Trp1077Arg)
c.3529T>A (p.Trp1177Arg)
c.3538T>A (p.Trp1180Arg)
c.2884T>A (p.Trp962Arg)
c.3328T>A (p.Trp1110Arg)
9g.135786413T>CCA375491970KCNT1c.3394T>C (p.Trp1132Arg)
c.3235T>C (p.Trp1079Arg)
c.3142T>C (p.Trp1048Arg)
c.3151T>C (p.Trp1051Arg)
c.3295T>C (p.Trp1099Arg)
c.*3004T>C (n.*3004T>C)
c.3277T>C (p.Trp1093Arg)
c.3316T>C (p.Trp1106Arg)
c.3331T>C (p.Trp1111Arg)
c.3337T>C (p.Trp1113Arg)
c.3259T>C (p.Trp1087Arg)
c.3229T>C (p.Trp1077Arg)
c.3529T>C (p.Trp1177Arg)
c.3538T>C (p.Trp1180Arg)
c.2884T>C (p.Trp962Arg)
c.3328T>C (p.Trp1110Arg)
9g.135786413T>GCA375491972KCNT1c.3394T>G (p.Trp1132Gly)
c.3235T>G (p.Trp1079Gly)
c.3142T>G (p.Trp1048Gly)
c.3151T>G (p.Trp1051Gly)
c.3295T>G (p.Trp1099Gly)
c.*3004T>G (n.*3004T>G)
c.3277T>G (p.Trp1093Gly)
c.3316T>G (p.Trp1106Gly)
c.3331T>G (p.Trp1111Gly)
c.3337T>G (p.Trp1113Gly)
c.3259T>G (p.Trp1087Gly)
c.3229T>G (p.Trp1077Gly)
c.3529T>G (p.Trp1177Gly)
c.3538T>G (p.Trp1180Gly)
c.2884T>G (p.Trp962Gly)
c.3328T>G (p.Trp1110Gly)
9g.135786414G>ACA375491976KCNT1c.3395G>A (p.Trp1132Ter)
c.3236G>A (p.Trp1079Ter)
c.3143G>A (p.Trp1048Ter)
c.3152G>A (p.Trp1051Ter)
c.3296G>A (p.Trp1099Ter)
c.*3005G>A (n.*3005G>A)
c.3278G>A (p.Trp1093Ter)
c.3317G>A (p.Trp1106Ter)
c.3332G>A (p.Trp1111Ter)
c.3338G>A (p.Trp1113Ter)
c.3260G>A (p.Trp1087Ter)
c.3230G>A (p.Trp1077Ter)
c.3530G>A (p.Trp1177Ter)
c.3539G>A (p.Trp1180Ter)
c.2885G>A (p.Trp962Ter)
c.3329G>A (p.Trp1110Ter)
9g.135786414G>CCA375491980KCNT1c.3395G>C (p.Trp1132Ser)
c.3236G>C (p.Trp1079Ser)
c.3143G>C (p.Trp1048Ser)
c.3152G>C (p.Trp1051Ser)
c.3296G>C (p.Trp1099Ser)
c.*3005G>C (n.*3005G>C)
c.3278G>C (p.Trp1093Ser)
c.3317G>C (p.Trp1106Ser)
c.3332G>C (p.Trp1111Ser)
c.3338G>C (p.Trp1113Ser)
c.3260G>C (p.Trp1087Ser)
c.3230G>C (p.Trp1077Ser)
c.3530G>C (p.Trp1177Ser)
c.3539G>C (p.Trp1180Ser)
c.2885G>C (p.Trp962Ser)
c.3329G>C (p.Trp1110Ser)
9g.135786414G>TCA375491978KCNT1c.3395G>T (p.Trp1132Leu)
c.3236G>T (p.Trp1079Leu)
c.3143G>T (p.Trp1048Leu)
c.3152G>T (p.Trp1051Leu)
c.3296G>T (p.Trp1099Leu)
c.*3005G>T (n.*3005G>T)
c.3278G>T (p.Trp1093Leu)
c.3317G>T (p.Trp1106Leu)
c.3332G>T (p.Trp1111Leu)
c.3338G>T (p.Trp1113Leu)
c.3260G>T (p.Trp1087Leu)
c.3230G>T (p.Trp1077Leu)
c.3530G>T (p.Trp1177Leu)
c.3539G>T (p.Trp1180Leu)
c.2885G>T (p.Trp962Leu)
c.3329G>T (p.Trp1110Leu)

Number of alleles fetched