Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
9g.135786415G>ACA375491984KCNT1c.3396G>A (p.Trp1132Ter)
c.3237G>A (p.Trp1079Ter)
c.3144G>A (p.Trp1048Ter)
c.3153G>A (p.Trp1051Ter)
c.3297G>A (p.Trp1099Ter)
c.*3006G>A (n.*3006G>A)
c.3279G>A (p.Trp1093Ter)
c.3318G>A (p.Trp1106Ter)
c.3333G>A (p.Trp1111Ter)
c.3339G>A (p.Trp1113Ter)
c.3261G>A (p.Trp1087Ter)
c.3231G>A (p.Trp1077Ter)
c.3531G>A (p.Trp1177Ter)
c.3540G>A (p.Trp1180Ter)
c.2886G>A (p.Trp962Ter)
c.3330G>A (p.Trp1110Ter)
 gnomAD v4
9g.135786415G>CCA375491985KCNT1c.3396G>C (p.Trp1132Cys)
c.3237G>C (p.Trp1079Cys)
c.3144G>C (p.Trp1048Cys)
c.3153G>C (p.Trp1051Cys)
c.3297G>C (p.Trp1099Cys)
c.*3006G>C (n.*3006G>C)
c.3279G>C (p.Trp1093Cys)
c.3318G>C (p.Trp1106Cys)
c.3333G>C (p.Trp1111Cys)
c.3339G>C (p.Trp1113Cys)
c.3261G>C (p.Trp1087Cys)
c.3231G>C (p.Trp1077Cys)
c.3531G>C (p.Trp1177Cys)
c.3540G>C (p.Trp1180Cys)
c.2886G>C (p.Trp962Cys)
c.3330G>C (p.Trp1110Cys)
 dbSNP gnomAD v4
9g.135786415G=CA1883888292KCNT1c.3396G= (p.Trp1132=)
c.3237G= (p.Trp1079=)
c.3144G= (p.Trp1048=)
c.3153G= (p.Trp1051=)
c.3297G= (p.Trp1099=)
c.*3006G= (n.*3006G=)
c.3279G= (p.Trp1093=)
c.3318G= (p.Trp1106=)
c.3333G= (p.Trp1111=)
c.3339G= (p.Trp1113=)
c.3261G= (p.Trp1087=)
c.3231G= (p.Trp1077=)
c.3531G= (p.Trp1177=)
c.3540G= (p.Trp1180=)
c.2886G= (p.Trp962=)
c.3330G= (p.Trp1110=)
9g.135786415G>TCA375491986KCNT1c.3396G>T (p.Trp1132Cys)
c.3237G>T (p.Trp1079Cys)
c.3144G>T (p.Trp1048Cys)
c.3153G>T (p.Trp1051Cys)
c.3297G>T (p.Trp1099Cys)
c.*3006G>T (n.*3006G>T)
c.3279G>T (p.Trp1093Cys)
c.3318G>T (p.Trp1106Cys)
c.3333G>T (p.Trp1111Cys)
c.3339G>T (p.Trp1113Cys)
c.3261G>T (p.Trp1087Cys)
c.3231G>T (p.Trp1077Cys)
c.3531G>T (p.Trp1177Cys)
c.3540G>T (p.Trp1180Cys)
c.2886G>T (p.Trp962Cys)
c.3330G>T (p.Trp1110Cys)
 ClinVar dbSNP gnomAD v4
9g.135786416A=CA1883888295KCNT1c.3397A= (p.Ile1133=)
c.3238A= (p.Ile1080=)
c.3145A= (p.Ile1049=)
c.3154A= (p.Ile1052=)
c.3298A= (p.Ile1100=)
c.*3007A= (n.*3007A=)
c.3280A= (p.Ile1094=)
c.3319A= (p.Ile1107=)
c.3334A= (p.Ile1112=)
c.3340A= (p.Ile1114=)
c.3262A= (p.Ile1088=)
c.3232A= (p.Ile1078=)
c.3532A= (p.Ile1178=)
c.3541A= (p.Ile1181=)
c.2887A= (p.Ile963=)
c.3331A= (p.Ile1111=)
9g.135786416A>CCA375491987KCNT1c.3397A>C (p.Ile1133Leu)
c.3238A>C (p.Ile1080Leu)
c.3145A>C (p.Ile1049Leu)
c.3154A>C (p.Ile1052Leu)
c.3298A>C (p.Ile1100Leu)
c.*3007A>C (n.*3007A>C)
c.3280A>C (p.Ile1094Leu)
c.3319A>C (p.Ile1107Leu)
c.3334A>C (p.Ile1112Leu)
c.3340A>C (p.Ile1114Leu)
c.3262A>C (p.Ile1088Leu)
c.3232A>C (p.Ile1078Leu)
c.3532A>C (p.Ile1178Leu)
c.3541A>C (p.Ile1181Leu)
c.2887A>C (p.Ile963Leu)
c.3331A>C (p.Ile1111Leu)
 dbSNP gnomAD v2
9g.135786416A>GCA375491989KCNT1c.3397A>G (p.Ile1133Val)
c.3238A>G (p.Ile1080Val)
c.3145A>G (p.Ile1049Val)
c.3154A>G (p.Ile1052Val)
c.3298A>G (p.Ile1100Val)
c.*3007A>G (n.*3007A>G)
c.3280A>G (p.Ile1094Val)
c.3319A>G (p.Ile1107Val)
c.3334A>G (p.Ile1112Val)
c.3340A>G (p.Ile1114Val)
c.3262A>G (p.Ile1088Val)
c.3232A>G (p.Ile1078Val)
c.3532A>G (p.Ile1178Val)
c.3541A>G (p.Ile1181Val)
c.2887A>G (p.Ile963Val)
c.3331A>G (p.Ile1111Val)
9g.135786416A>TCA375491991KCNT1c.3397A>T (p.Ile1133Phe)
c.3238A>T (p.Ile1080Phe)
c.3145A>T (p.Ile1049Phe)
c.3154A>T (p.Ile1052Phe)
c.3298A>T (p.Ile1100Phe)
c.*3007A>T (n.*3007A>T)
c.3280A>T (p.Ile1094Phe)
c.3319A>T (p.Ile1107Phe)
c.3334A>T (p.Ile1112Phe)
c.3340A>T (p.Ile1114Phe)
c.3262A>T (p.Ile1088Phe)
c.3232A>T (p.Ile1078Phe)
c.3532A>T (p.Ile1178Phe)
c.3541A>T (p.Ile1181Phe)
c.2887A>T (p.Ile963Phe)
c.3331A>T (p.Ile1111Phe)
 ClinVar dbSNP
9g.135786417T>ACA375491998KCNT1c.3398T>A (p.Ile1133Asn)
c.3239T>A (p.Ile1080Asn)
c.3146T>A (p.Ile1049Asn)
c.3155T>A (p.Ile1052Asn)
c.3299T>A (p.Ile1100Asn)
c.*3008T>A (n.*3008T>A)
c.3281T>A (p.Ile1094Asn)
c.3320T>A (p.Ile1107Asn)
c.3335T>A (p.Ile1112Asn)
c.3341T>A (p.Ile1114Asn)
c.3263T>A (p.Ile1088Asn)
c.3233T>A (p.Ile1078Asn)
c.3533T>A (p.Ile1178Asn)
c.3542T>A (p.Ile1181Asn)
c.2888T>A (p.Ile963Asn)
c.3332T>A (p.Ile1111Asn)
9g.135786417T>CCA375491993KCNT1c.3398T>C (p.Ile1133Thr)
c.3239T>C (p.Ile1080Thr)
c.3146T>C (p.Ile1049Thr)
c.3155T>C (p.Ile1052Thr)
c.3299T>C (p.Ile1100Thr)
c.*3008T>C (n.*3008T>C)
c.3281T>C (p.Ile1094Thr)
c.3320T>C (p.Ile1107Thr)
c.3335T>C (p.Ile1112Thr)
c.3341T>C (p.Ile1114Thr)
c.3263T>C (p.Ile1088Thr)
c.3233T>C (p.Ile1078Thr)
c.3533T>C (p.Ile1178Thr)
c.3542T>C (p.Ile1181Thr)
c.2888T>C (p.Ile963Thr)
c.3332T>C (p.Ile1111Thr)
9g.135786417T>GCA375491995KCNT1c.3398T>G (p.Ile1133Ser)
c.3239T>G (p.Ile1080Ser)
c.3146T>G (p.Ile1049Ser)
c.3155T>G (p.Ile1052Ser)
c.3299T>G (p.Ile1100Ser)
c.*3008T>G (n.*3008T>G)
c.3281T>G (p.Ile1094Ser)
c.3320T>G (p.Ile1107Ser)
c.3335T>G (p.Ile1112Ser)
c.3341T>G (p.Ile1114Ser)
c.3263T>G (p.Ile1088Ser)
c.3233T>G (p.Ile1078Ser)
c.3533T>G (p.Ile1178Ser)
c.3542T>G (p.Ile1181Ser)
c.2888T>G (p.Ile963Ser)
c.3332T>G (p.Ile1111Ser)
9g.135786418C>ACA467821283KCNT1c.3399C>A (p.Ile1133=)
c.3240C>A (p.Ile1080=)
c.3147C>A (p.Ile1049=)
c.3156C>A (p.Ile1052=)
c.3300C>A (p.Ile1100=)
c.*3009C>A (n.*3009C>A)
c.3282C>A (p.Ile1094=)
c.3321C>A (p.Ile1107=)
c.3336C>A (p.Ile1112=)
c.3342C>A (p.Ile1114=)
c.3264C>A (p.Ile1088=)
c.3234C>A (p.Ile1078=)
c.3534C>A (p.Ile1178=)
c.3543C>A (p.Ile1181=)
c.2889C>A (p.Ile963=)
c.3333C>A (p.Ile1111=)
 gnomAD v4
9g.135786418C=CA1883888297KCNT1c.3399C= (p.Ile1133=)
c.3240C= (p.Ile1080=)
c.3147C= (p.Ile1049=)
c.3156C= (p.Ile1052=)
c.3300C= (p.Ile1100=)
c.*3009C= (n.*3009C=)
c.3282C= (p.Ile1094=)
c.3321C= (p.Ile1107=)
c.3336C= (p.Ile1112=)
c.3342C= (p.Ile1114=)
c.3264C= (p.Ile1088=)
c.3234C= (p.Ile1078=)
c.3534C= (p.Ile1178=)
c.3543C= (p.Ile1181=)
c.2889C= (p.Ile963=)
c.3333C= (p.Ile1111=)
9g.135786418C>GCA375492000KCNT1c.3399C>G (p.Ile1133Met)
c.3240C>G (p.Ile1080Met)
c.3147C>G (p.Ile1049Met)
c.3156C>G (p.Ile1052Met)
c.3300C>G (p.Ile1100Met)
c.*3009C>G (n.*3009C>G)
c.3282C>G (p.Ile1094Met)
c.3321C>G (p.Ile1107Met)
c.3336C>G (p.Ile1112Met)
c.3342C>G (p.Ile1114Met)
c.3264C>G (p.Ile1088Met)
c.3234C>G (p.Ile1078Met)
c.3534C>G (p.Ile1178Met)
c.3543C>G (p.Ile1181Met)
c.2889C>G (p.Ile963Met)
c.3333C>G (p.Ile1111Met)
9g.135786418C>TCA5327805KCNT1c.3399C>T (p.Ile1133=)
c.3240C>T (p.Ile1080=)
c.3147C>T (p.Ile1049=)
c.3156C>T (p.Ile1052=)
c.3300C>T (p.Ile1100=)
c.*3009C>T (n.*3009C>T)
c.3282C>T (p.Ile1094=)
c.3321C>T (p.Ile1107=)
c.3336C>T (p.Ile1112=)
c.3342C>T (p.Ile1114=)
c.3264C>T (p.Ile1088=)
c.3234C>T (p.Ile1078=)
c.3534C>T (p.Ile1178=)
c.3543C>T (p.Ile1181=)
c.2889C>T (p.Ile963=)
c.3333C>T (p.Ile1111=)
 dbSNP ExAC gnomAD v2
9g.135786419A=CA1883888302KCNT1c.3400A= (p.Ser1134=)
c.3241A= (p.Ser1081=)
c.3148A= (p.Ser1050=)
c.3157A= (p.Ser1053=)
c.3301A= (p.Ser1101=)
c.*3010A= (n.*3010A=)
c.3283A= (p.Ser1095=)
c.3322A= (p.Ser1108=)
c.3337A= (p.Ser1113=)
c.3343A= (p.Ser1115=)
c.3265A= (p.Ser1089=)
c.3235A= (p.Ser1079=)
c.3535A= (p.Ser1179=)
c.3544A= (p.Ser1182=)
c.2890A= (p.Ser964=)
c.3334A= (p.Ser1112=)
9g.135786419A>CCA375492003KCNT1c.3400A>C (p.Ser1134Arg)
c.3241A>C (p.Ser1081Arg)
c.3148A>C (p.Ser1050Arg)
c.3157A>C (p.Ser1053Arg)
c.3301A>C (p.Ser1101Arg)
c.*3010A>C (n.*3010A>C)
c.3283A>C (p.Ser1095Arg)
c.3322A>C (p.Ser1108Arg)
c.3337A>C (p.Ser1113Arg)
c.3343A>C (p.Ser1115Arg)
c.3265A>C (p.Ser1089Arg)
c.3235A>C (p.Ser1079Arg)
c.3535A>C (p.Ser1179Arg)
c.3544A>C (p.Ser1182Arg)
c.2890A>C (p.Ser964Arg)
c.3334A>C (p.Ser1112Arg)

Number of alleles fetched