Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
9 | g.135786256_135786307delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC | CA1883887548 | KCNT1 | c.3237_3288delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (p.Trp1079=) c.3078_3129delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (p.Trp1026=) c.2985_3036delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (p.Trp995=) c.2994_3045delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (p.Trp998=) c.3138_3189delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (p.Trp1046=) c.*2847_*2898delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (n.*2847_*2898delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC) c.3120_3171delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (p.Trp1040=) c.3159_3210delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (p.Trp1053=) c.3174_3225delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (p.Trp1058=) n.3922_3973delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC c.3180_3231delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (p.Trp1060=) c.3102_3153delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (p.Trp1034=) c.3072_3123delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (p.Trp1024=) c.3372_3423delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (p.Trp1124=) c.3381_3432delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (p.Trp1127=) c.2727_2778delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (p.Trp909=) c.3171_3222delinsGGGCTCCCGCGCTGGCACCGGAGGCAGCTCCCAGGGCCGCCACACGGGCGGC (p.Trp1057=) | |
9 | g.135786259_135786309del | CA591364966 | KCNT1 | c.3240_3290del (p.Ser1081_Gly1097del) c.3081_3131del (p.Ser1028_Gly1044del) c.2988_3038del (p.Ser997_Gly1013del) c.2997_3047del (p.Ser1000_Gly1016del) c.3141_3191del (p.Ser1048_Gly1064del) c.*2850_*2900del (n.*2850_*2900del) c.3123_3173del (p.Ser1042_Gly1058del) c.3162_3212del (p.Ser1055_Gly1071del) c.3177_3227del (p.Ser1060_Gly1076del) n.3925_3975del c.3183_3233del (p.Ser1062_Gly1078del) c.3105_3155del (p.Ser1036_Gly1052del) c.3075_3125del (p.Ser1026_Gly1042del) c.3375_3425del (p.Ser1126_Gly1142del) c.3384_3434del (p.Ser1129_Gly1145del) c.2730_2780del (p.Ser911_Gly927del) c.3174_3224del (p.Ser1059_Gly1075del) | dbSNP gnomAD v2 gnomAD v4 |
9 | g.135786306G>A | CA375491657 | KCNT1 | c.3287G>A (p.Gly1096Asp) c.3128G>A (p.Gly1043Asp) c.3035G>A (p.Gly1012Asp) c.3044G>A (p.Gly1015Asp) c.3188G>A (p.Gly1063Asp) c.*2897G>A (n.*2897G>A) c.3170G>A (p.Gly1057Asp) c.3209G>A (p.Gly1070Asp) c.3224G>A (p.Gly1075Asp) n.3972G>A c.3230G>A (p.Gly1077Asp) c.3152G>A (p.Gly1051Asp) c.3122G>A (p.Gly1041Asp) c.3422G>A (p.Gly1141Asp) c.3431G>A (p.Gly1144Asp) c.2777G>A (p.Gly926Asp) c.3221G>A (p.Gly1074Asp) | |
9 | g.135786306G>C | CA375491658 | KCNT1 | c.3287G>C (p.Gly1096Ala) c.3128G>C (p.Gly1043Ala) c.3035G>C (p.Gly1012Ala) c.3044G>C (p.Gly1015Ala) c.3188G>C (p.Gly1063Ala) c.*2897G>C (n.*2897G>C) c.3170G>C (p.Gly1057Ala) c.3209G>C (p.Gly1070Ala) c.3224G>C (p.Gly1075Ala) n.3972G>C c.3230G>C (p.Gly1077Ala) c.3152G>C (p.Gly1051Ala) c.3122G>C (p.Gly1041Ala) c.3422G>C (p.Gly1141Ala) c.3431G>C (p.Gly1144Ala) c.2777G>C (p.Gly926Ala) c.3221G>C (p.Gly1074Ala) | |
9 | g.135786306G>T | CA375491659 | KCNT1 | c.3287G>T (p.Gly1096Val) c.3128G>T (p.Gly1043Val) c.3035G>T (p.Gly1012Val) c.3044G>T (p.Gly1015Val) c.3188G>T (p.Gly1063Val) c.*2897G>T (n.*2897G>T) c.3170G>T (p.Gly1057Val) c.3209G>T (p.Gly1070Val) c.3224G>T (p.Gly1075Val) n.3972G>T c.3230G>T (p.Gly1077Val) c.3152G>T (p.Gly1051Val) c.3122G>T (p.Gly1041Val) c.3422G>T (p.Gly1141Val) c.3431G>T (p.Gly1144Val) c.2777G>T (p.Gly926Val) c.3221G>T (p.Gly1074Val) | |
9 | g.135786307C>A | CA467821209 | KCNT1 | c.3288C>A (p.Gly1096=) c.3129C>A (p.Gly1043=) c.3036C>A (p.Gly1012=) c.3045C>A (p.Gly1015=) c.3189C>A (p.Gly1063=) c.*2898C>A (n.*2898C>A) c.3171C>A (p.Gly1057=) c.3210C>A (p.Gly1070=) c.3225C>A (p.Gly1075=) n.3973C>A c.3231C>A (p.Gly1077=) c.3153C>A (p.Gly1051=) c.3123C>A (p.Gly1041=) c.3423C>A (p.Gly1141=) c.3432C>A (p.Gly1144=) c.2778C>A (p.Gly926=) c.3222C>A (p.Gly1074=) | dbSNP gnomAD v3 gnomAD v4 |
9 | g.135786307C= | CA1883887754 | KCNT1 | c.3288C= (p.Gly1096=) c.3129C= (p.Gly1043=) c.3036C= (p.Gly1012=) c.3045C= (p.Gly1015=) c.3189C= (p.Gly1063=) c.*2898C= (n.*2898C=) c.3171C= (p.Gly1057=) c.3210C= (p.Gly1070=) c.3225C= (p.Gly1075=) n.3973C= c.3231C= (p.Gly1077=) c.3153C= (p.Gly1051=) c.3123C= (p.Gly1041=) c.3423C= (p.Gly1141=) c.3432C= (p.Gly1144=) c.2778C= (p.Gly926=) c.3222C= (p.Gly1074=) | |
9 | g.135786307C>G | CA467821210 | KCNT1 | c.3288C>G (p.Gly1096=) c.3129C>G (p.Gly1043=) c.3036C>G (p.Gly1012=) c.3045C>G (p.Gly1015=) c.3189C>G (p.Gly1063=) c.*2898C>G (n.*2898C>G) c.3171C>G (p.Gly1057=) c.3210C>G (p.Gly1070=) c.3225C>G (p.Gly1075=) n.3973C>G c.3231C>G (p.Gly1077=) c.3153C>G (p.Gly1051=) c.3123C>G (p.Gly1041=) c.3423C>G (p.Gly1141=) c.3432C>G (p.Gly1144=) c.2778C>G (p.Gly926=) c.3222C>G (p.Gly1074=) | |
9 | g.135786307C>T | CA5327770 | KCNT1 | c.3288C>T (p.Gly1096=) c.3129C>T (p.Gly1043=) c.3036C>T (p.Gly1012=) c.3045C>T (p.Gly1015=) c.3189C>T (p.Gly1063=) c.*2898C>T (n.*2898C>T) c.3171C>T (p.Gly1057=) c.3210C>T (p.Gly1070=) c.3225C>T (p.Gly1075=) n.3973C>T c.3231C>T (p.Gly1077=) c.3153C>T (p.Gly1051=) c.3123C>T (p.Gly1041=) c.3423C>T (p.Gly1141=) c.3432C>T (p.Gly1144=) c.2778C>T (p.Gly926=) c.3222C>T (p.Gly1074=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
9 | g.135786308G>A | CA5327771 | KCNT1 | c.3289G>A (p.Gly1097Ser) c.3130G>A (p.Gly1044Ser) c.3037G>A (p.Gly1013Ser) c.3046G>A (p.Gly1016Ser) c.3190G>A (p.Gly1064Ser) c.*2899G>A (n.*2899G>A) c.3172G>A (p.Gly1058Ser) c.3211G>A (p.Gly1071Ser) c.3226G>A (p.Gly1076Ser) n.3974G>A c.3232G>A (p.Gly1078Ser) c.3154G>A (p.Gly1052Ser) c.3124G>A (p.Gly1042Ser) c.3424G>A (p.Gly1142Ser) c.3433G>A (p.Gly1145Ser) c.2779G>A (p.Gly927Ser) c.3223G>A (p.Gly1075Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
9 | g.135786308G>C | CA375491660 | KCNT1 | c.3289G>C (p.Gly1097Arg) c.3130G>C (p.Gly1044Arg) c.3037G>C (p.Gly1013Arg) c.3046G>C (p.Gly1016Arg) c.3190G>C (p.Gly1064Arg) c.*2899G>C (n.*2899G>C) c.3172G>C (p.Gly1058Arg) c.3211G>C (p.Gly1071Arg) c.3226G>C (p.Gly1076Arg) n.3974G>C c.3232G>C (p.Gly1078Arg) c.3154G>C (p.Gly1052Arg) c.3124G>C (p.Gly1042Arg) c.3424G>C (p.Gly1142Arg) c.3433G>C (p.Gly1145Arg) c.2779G>C (p.Gly927Arg) c.3223G>C (p.Gly1075Arg) | |
9 | g.135786308G= | CA1883887766 | KCNT1 | c.3289G= (p.Gly1097=) c.3130G= (p.Gly1044=) c.3037G= (p.Gly1013=) c.3046G= (p.Gly1016=) c.3190G= (p.Gly1064=) c.*2899G= (n.*2899G=) c.3172G= (p.Gly1058=) c.3211G= (p.Gly1071=) c.3226G= (p.Gly1076=) n.3974G= c.3232G= (p.Gly1078=) c.3154G= (p.Gly1052=) c.3124G= (p.Gly1042=) c.3424G= (p.Gly1142=) c.3433G= (p.Gly1145=) c.2779G= (p.Gly927=) c.3223G= (p.Gly1075=) | |
9 | g.135786308G>T | CA375491661 | KCNT1 | c.3289G>T (p.Gly1097Cys) c.3130G>T (p.Gly1044Cys) c.3037G>T (p.Gly1013Cys) c.3046G>T (p.Gly1016Cys) c.3190G>T (p.Gly1064Cys) c.*2899G>T (n.*2899G>T) c.3172G>T (p.Gly1058Cys) c.3211G>T (p.Gly1071Cys) c.3226G>T (p.Gly1076Cys) n.3974G>T c.3232G>T (p.Gly1078Cys) c.3154G>T (p.Gly1052Cys) c.3124G>T (p.Gly1042Cys) c.3424G>T (p.Gly1142Cys) c.3433G>T (p.Gly1145Cys) c.2779G>T (p.Gly927Cys) c.3223G>T (p.Gly1075Cys) | |
9 | g.135786309G>A | CA375491662 | KCNT1 | c.3290G>A (p.Gly1097Asp) c.3131G>A (p.Gly1044Asp) c.3038G>A (p.Gly1013Asp) c.3047G>A (p.Gly1016Asp) c.3191G>A (p.Gly1064Asp) c.*2900G>A (n.*2900G>A) c.3173G>A (p.Gly1058Asp) c.3212G>A (p.Gly1071Asp) c.3227G>A (p.Gly1076Asp) n.3975G>A c.3233G>A (p.Gly1078Asp) c.3155G>A (p.Gly1052Asp) c.3125G>A (p.Gly1042Asp) c.3425G>A (p.Gly1142Asp) c.3434G>A (p.Gly1145Asp) c.2780G>A (p.Gly927Asp) c.3224G>A (p.Gly1075Asp) | dbSNP gnomAD v4 |
9 | g.135786309G>C | CA375491663 | KCNT1 | c.3290G>C (p.Gly1097Ala) c.3131G>C (p.Gly1044Ala) c.3038G>C (p.Gly1013Ala) c.3047G>C (p.Gly1016Ala) c.3191G>C (p.Gly1064Ala) c.*2900G>C (n.*2900G>C) c.3173G>C (p.Gly1058Ala) c.3212G>C (p.Gly1071Ala) c.3227G>C (p.Gly1076Ala) n.3975G>C c.3233G>C (p.Gly1078Ala) c.3155G>C (p.Gly1052Ala) c.3125G>C (p.Gly1042Ala) c.3425G>C (p.Gly1142Ala) c.3434G>C (p.Gly1145Ala) c.2780G>C (p.Gly927Ala) c.3224G>C (p.Gly1075Ala) | |
9 | g.135786309G= | CA1883887771 | KCNT1 | c.3290G= (p.Gly1097=) c.3131G= (p.Gly1044=) c.3038G= (p.Gly1013=) c.3047G= (p.Gly1016=) c.3191G= (p.Gly1064=) c.*2900G= (n.*2900G=) c.3173G= (p.Gly1058=) c.3212G= (p.Gly1071=) c.3227G= (p.Gly1076=) n.3975G= c.3233G= (p.Gly1078=) c.3155G= (p.Gly1052=) c.3125G= (p.Gly1042=) c.3425G= (p.Gly1142=) c.3434G= (p.Gly1145=) c.2780G= (p.Gly927=) c.3224G= (p.Gly1075=) | |
9 | g.135786309G>T | CA201424024 | KCNT1 | c.3290G>T (p.Gly1097Val) c.3131G>T (p.Gly1044Val) c.3038G>T (p.Gly1013Val) c.3047G>T (p.Gly1016Val) c.3191G>T (p.Gly1064Val) c.*2900G>T (n.*2900G>T) c.3173G>T (p.Gly1058Val) c.3212G>T (p.Gly1071Val) c.3227G>T (p.Gly1076Val) n.3975G>T c.3233G>T (p.Gly1078Val) c.3155G>T (p.Gly1052Val) c.3125G>T (p.Gly1042Val) c.3425G>T (p.Gly1142Val) c.3434G>T (p.Gly1145Val) c.2780G>T (p.Gly927Val) c.3224G>T (p.Gly1075Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
9 | g.135786310T>A | CA467821211 | KCNT1 | c.3291T>A (p.Gly1097=) c.3132T>A (p.Gly1044=) c.3039T>A (p.Gly1013=) c.3048T>A (p.Gly1016=) c.3192T>A (p.Gly1064=) c.*2901T>A (n.*2901T>A) c.3174T>A (p.Gly1058=) c.3213T>A (p.Gly1071=) c.3228T>A (p.Gly1076=) n.3976T>A c.3234T>A (p.Gly1078=) c.3156T>A (p.Gly1052=) c.3126T>A (p.Gly1042=) c.3426T>A (p.Gly1142=) c.3435T>A (p.Gly1145=) c.2781T>A (p.Gly927=) c.3225T>A (p.Gly1075=) | |
9 | g.135786310T>C | CA467821213 | KCNT1 | c.3291T>C (p.Gly1097=) c.3132T>C (p.Gly1044=) c.3039T>C (p.Gly1013=) c.3048T>C (p.Gly1016=) c.3192T>C (p.Gly1064=) c.*2901T>C (n.*2901T>C) c.3174T>C (p.Gly1058=) c.3213T>C (p.Gly1071=) c.3228T>C (p.Gly1076=) n.3976T>C c.3234T>C (p.Gly1078=) c.3156T>C (p.Gly1052=) c.3126T>C (p.Gly1042=) c.3426T>C (p.Gly1142=) c.3435T>C (p.Gly1145=) c.2781T>C (p.Gly927=) c.3225T>C (p.Gly1075=) | |
9 | g.135786310T>G | CA467821212 | KCNT1 | c.3291T>G (p.Gly1097=) c.3132T>G (p.Gly1044=) c.3039T>G (p.Gly1013=) c.3048T>G (p.Gly1016=) c.3192T>G (p.Gly1064=) c.*2901T>G (n.*2901T>G) c.3174T>G (p.Gly1058=) c.3213T>G (p.Gly1071=) c.3228T>G (p.Gly1076=) n.3976T>G c.3234T>G (p.Gly1078=) c.3156T>G (p.Gly1052=) c.3126T>G (p.Gly1042=) c.3426T>G (p.Gly1142=) c.3435T>G (p.Gly1145=) c.2781T>G (p.Gly927=) c.3225T>G (p.Gly1075=) | |
9 | g.135786310T= | CA1883887774 | KCNT1 | c.3291T= (p.Gly1097=) c.3132T= (p.Gly1044=) c.3039T= (p.Gly1013=) c.3048T= (p.Gly1016=) c.3192T= (p.Gly1064=) c.*2901T= (n.*2901T=) c.3174T= (p.Gly1058=) c.3213T= (p.Gly1071=) c.3228T= (p.Gly1076=) n.3976T= c.3234T= (p.Gly1078=) c.3156T= (p.Gly1052=) c.3126T= (p.Gly1042=) c.3426T= (p.Gly1142=) c.3435T= (p.Gly1145=) c.2781T= (p.Gly927=) c.3225T= (p.Gly1075=) | |
9 | g.135786311G>A | CA5327773 | KCNT1 | c.3292G>A (p.Asp1098Asn) c.3133G>A (p.Asp1045Asn) c.3040G>A (p.Asp1014Asn) c.3049G>A (p.Asp1017Asn) c.3193G>A (p.Asp1065Asn) c.*2902G>A (n.*2902G>A) c.3175G>A (p.Asp1059Asn) c.3214G>A (p.Asp1072Asn) c.3229G>A (p.Asp1077Asn) n.3977G>A c.3235G>A (p.Asp1079Asn) c.3157G>A (p.Asp1053Asn) c.3127G>A (p.Asp1043Asn) c.3427G>A (p.Asp1143Asn) c.3436G>A (p.Asp1146Asn) c.2782G>A (p.Asp928Asn) c.3226G>A (p.Asp1076Asn) | dbSNP ExAC gnomAD v2 |
9 | g.135786311G>C | CA375491665 | KCNT1 | c.3292G>C (p.Asp1098His) c.3133G>C (p.Asp1045His) c.3040G>C (p.Asp1014His) c.3049G>C (p.Asp1017His) c.3193G>C (p.Asp1065His) c.*2902G>C (n.*2902G>C) c.3175G>C (p.Asp1059His) c.3214G>C (p.Asp1072His) c.3229G>C (p.Asp1077His) n.3977G>C c.3235G>C (p.Asp1079His) c.3157G>C (p.Asp1053His) c.3127G>C (p.Asp1043His) c.3427G>C (p.Asp1143His) c.3436G>C (p.Asp1146His) c.2782G>C (p.Asp928His) c.3226G>C (p.Asp1076His) | |
9 | g.135786311G= | CA1883887777 | KCNT1 | c.3292G= (p.Asp1098=) c.3133G= (p.Asp1045=) c.3040G= (p.Asp1014=) c.3049G= (p.Asp1017=) c.3193G= (p.Asp1065=) c.*2902G= (n.*2902G=) c.3175G= (p.Asp1059=) c.3214G= (p.Asp1072=) c.3229G= (p.Asp1077=) n.3977G= c.3235G= (p.Asp1079=) c.3157G= (p.Asp1053=) c.3127G= (p.Asp1043=) c.3427G= (p.Asp1143=) c.3436G= (p.Asp1146=) c.2782G= (p.Asp928=) c.3226G= (p.Asp1076=) | |
9 | g.135786311G>T | CA375491664 | KCNT1 | c.3292G>T (p.Asp1098Tyr) c.3133G>T (p.Asp1045Tyr) c.3040G>T (p.Asp1014Tyr) c.3049G>T (p.Asp1017Tyr) c.3193G>T (p.Asp1065Tyr) c.*2902G>T (n.*2902G>T) c.3175G>T (p.Asp1059Tyr) c.3214G>T (p.Asp1072Tyr) c.3229G>T (p.Asp1077Tyr) n.3977G>T c.3235G>T (p.Asp1079Tyr) c.3157G>T (p.Asp1053Tyr) c.3127G>T (p.Asp1043Tyr) c.3427G>T (p.Asp1143Tyr) c.3436G>T (p.Asp1146Tyr) c.2782G>T (p.Asp928Tyr) c.3226G>T (p.Asp1076Tyr) | |
9 | g.135786312_135786339dup | CA5327772 | KCNT1 | c.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 |
9 | g.135786312A>C | CA375491666 | KCNT1 | c.3293A>C (p.Asp1098Ala) c.3134A>C (p.Asp1045Ala) c.3041A>C (p.Asp1014Ala) c.3050A>C (p.Asp1017Ala) c.3194A>C (p.Asp1065Ala) c.*2903A>C (n.*2903A>C) c.3176A>C (p.Asp1059Ala) c.3215A>C (p.Asp1072Ala) c.3230A>C (p.Asp1077Ala) n.3978A>C c.3236A>C (p.Asp1079Ala) c.3158A>C (p.Asp1053Ala) c.3128A>C (p.Asp1043Ala) c.3428A>C (p.Asp1143Ala) c.3437A>C (p.Asp1146Ala) c.2783A>C (p.Asp928Ala) c.3227A>C (p.Asp1076Ala) | |
9 | g.135786312A>G | CA375491667 | KCNT1 | c.3293A>G (p.Asp1098Gly) c.3134A>G (p.Asp1045Gly) c.3041A>G (p.Asp1014Gly) c.3050A>G (p.Asp1017Gly) c.3194A>G (p.Asp1065Gly) c.*2903A>G (n.*2903A>G) c.3176A>G (p.Asp1059Gly) c.3215A>G (p.Asp1072Gly) c.3230A>G (p.Asp1077Gly) n.3978A>G c.3236A>G (p.Asp1079Gly) c.3158A>G (p.Asp1053Gly) c.3128A>G (p.Asp1043Gly) c.3428A>G (p.Asp1143Gly) c.3437A>G (p.Asp1146Gly) c.2783A>G (p.Asp928Gly) c.3227A>G (p.Asp1076Gly) | gnomAD v4 |
9 | g.135786312A>T | CA375491668 | KCNT1 | c.3293A>T (p.Asp1098Val) c.3134A>T (p.Asp1045Val) c.3041A>T (p.Asp1014Val) c.3050A>T (p.Asp1017Val) c.3194A>T (p.Asp1065Val) c.*2903A>T (n.*2903A>T) c.3176A>T (p.Asp1059Val) c.3215A>T (p.Asp1072Val) c.3230A>T (p.Asp1077Val) n.3978A>T c.3236A>T (p.Asp1079Val) c.3158A>T (p.Asp1053Val) c.3128A>T (p.Asp1043Val) c.3428A>T (p.Asp1143Val) c.3437A>T (p.Asp1146Val) c.2783A>T (p.Asp928Val) c.3227A>T (p.Asp1076Val) | |
9 | g.135786313C>A | CA375491669 | KCNT1 | c.3294C>A (p.Asp1098Glu) c.3135C>A (p.Asp1045Glu) c.3042C>A (p.Asp1014Glu) c.3051C>A (p.Asp1017Glu) c.3195C>A (p.Asp1065Glu) c.*2904C>A (n.*2904C>A) c.3177C>A (p.Asp1059Glu) c.3216C>A (p.Asp1072Glu) c.3231C>A (p.Asp1077Glu) n.3979C>A c.3237C>A (p.Asp1079Glu) c.3159C>A (p.Asp1053Glu) c.3129C>A (p.Asp1043Glu) c.3429C>A (p.Asp1143Glu) c.3438C>A (p.Asp1146Glu) c.2784C>A (p.Asp928Glu) c.3228C>A (p.Asp1076Glu) | |
9 | g.135786313C= | CA1883887784 | KCNT1 | c.3294C= (p.Asp1098=) c.3135C= (p.Asp1045=) c.3042C= (p.Asp1014=) c.3051C= (p.Asp1017=) c.3195C= (p.Asp1065=) c.*2904C= (n.*2904C=) c.3177C= (p.Asp1059=) c.3216C= (p.Asp1072=) c.3231C= (p.Asp1077=) n.3979C= c.3237C= (p.Asp1079=) c.3159C= (p.Asp1053=) c.3129C= (p.Asp1043=) c.3429C= (p.Asp1143=) c.3438C= (p.Asp1146=) c.2784C= (p.Asp928=) c.3228C= (p.Asp1076=) | |
9 | g.135786313C>G | CA375491670 | KCNT1 | c.3294C>G (p.Asp1098Glu) c.3135C>G (p.Asp1045Glu) c.3042C>G (p.Asp1014Glu) c.3051C>G (p.Asp1017Glu) c.3195C>G (p.Asp1065Glu) c.*2904C>G (n.*2904C>G) c.3177C>G (p.Asp1059Glu) c.3216C>G (p.Asp1072Glu) c.3231C>G (p.Asp1077Glu) n.3979C>G c.3237C>G (p.Asp1079Glu) c.3159C>G (p.Asp1053Glu) c.3129C>G (p.Asp1043Glu) c.3429C>G (p.Asp1143Glu) c.3438C>G (p.Asp1146Glu) c.2784C>G (p.Asp928Glu) c.3228C>G (p.Asp1076Glu) | |
9 | g.135786313C>T | CA467821214 | KCNT1 | c.3294C>T (p.Asp1098=) c.3135C>T (p.Asp1045=) c.3042C>T (p.Asp1014=) c.3051C>T (p.Asp1017=) c.3195C>T (p.Asp1065=) c.*2904C>T (n.*2904C>T) c.3177C>T (p.Asp1059=) c.3216C>T (p.Asp1072=) c.3231C>T (p.Asp1077=) n.3979C>T c.3237C>T (p.Asp1079=) c.3159C>T (p.Asp1053=) c.3129C>T (p.Asp1043=) c.3429C>T (p.Asp1143=) c.3438C>T (p.Asp1146=) c.2784C>T (p.Asp928=) c.3228C>T (p.Asp1076=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
9 | g.135786314C>A | CA201424035 | KCNT1 | c.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 |
9 | g.135786314C= | CA1883887787 | KCNT1 | c.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=) | |
9 | g.135786314C>G | CA375491671 | KCNT1 | c.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) | |
9 | g.135786314C>T | CA202185 | KCNT1 | c.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 |
9 | g.135786315C>A | CA375491672 | KCNT1 | c.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) | |
9 | g.135786315C= | CA1883887798 | KCNT1 | c.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=) | |
9 | g.135786315C>G | CA375491673 | KCNT1 | c.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 |
9 | g.135786315C>T | CA5327774 | KCNT1 | c.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 |
9 | g.135786316C>A | CA467821215 | KCNT1 | c.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 |
9 | g.135786316C= | CA1883887806 | KCNT1 | c.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=) | |
9 | g.135786316C>G | CA467821216 | KCNT1 | c.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 |
9 | g.135786316C>T | CA5327775 | KCNT1 | c.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 |
9 | g.135786317G>A | CA5327776 | KCNT1 | c.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 |
9 | g.135786317G>C | CA375491674 | KCNT1 | c.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) | |
9 | g.135786317G= | CA1883887816 | KCNT1 | c.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=) | |
9 | g.135786317G>T | CA375491675 | KCNT1 | c.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 |
9 | g.135786317_135786322dup | CA2692525513 | KCNT1 | c.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 |
9 | g.135786318C>A | CA375491676 | KCNT1 | c.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 |
9 | g.135786318C= | CA1883887821 | KCNT1 | c.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=) | |
9 | g.135786318C>G | CA375491678 | KCNT1 | c.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) | |
9 | g.135786318C>T | CA375491677 | KCNT1 | c.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 |
9 | g.135786319_135786329dup | CA2692525517 | KCNT1 | c.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 |
9 | g.135786319A>C | CA467821217 | KCNT1 | c.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=) | |
9 | g.135786319A>G | CA467821218 | KCNT1 | c.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=) | |
9 | g.135786319A>T | CA467821219 | KCNT1 | c.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=) | |
9 | g.135786320G>A | CA375491679 | KCNT1 | c.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) | |
9 | g.135786320G>C | CA375491680 | KCNT1 | c.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 |
9 | g.135786320G= | CA1883887826 | KCNT1 | c.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=) | |
9 | g.135786320G>T | CA375491681 | KCNT1 | c.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) | |
9 | g.135786321A>C | CA375491682 | KCNT1 | c.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) | |
9 | g.135786321A>G | CA375491683 | KCNT1 | c.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) | |
9 | g.135786321A>T | CA375491684 | KCNT1 | c.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) | |
9 | g.135786322G>A | CA467821220 | KCNT1 | c.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=) | |
9 | g.135786322G>C | CA375491685 | KCNT1 | c.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 |
9 | g.135786322G= | CA1883887835 | KCNT1 | c.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=) | |
9 | g.135786322G>T | CA375491686 | KCNT1 | c.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 |
9 | g.135786323C>A | CA375491687 | KCNT1 | c.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 |
9 | g.135786323C>G | CA375491688 | KCNT1 | c.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) | |
9 | g.135786323C>T | CA375491689 | KCNT1 | c.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 |
9 | g.135786324A>C | CA375491692 | KCNT1 | c.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) | |
9 | g.135786324A>G | CA375491690 | KCNT1 | c.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) | |
9 | g.135786324A>T | CA375491691 | KCNT1 | c.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) | |
9 | g.135786325C>A | CA375491693 | KCNT1 | c.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 |
9 | g.135786325C>G | CA375491694 | KCNT1 | c.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) | |
9 | g.135786325C>T | CA467821221 | KCNT1 | c.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 |
9 | g.135786326C>A | CA375491695 | KCNT1 | c.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 |
9 | g.135786326C= | CA1883887935 | KCNT1 | c.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=) | |
9 | g.135786326C>G | CA375491696 | KCNT1 | c.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) | |
9 | g.135786326C>T | CA375491697 | KCNT1 | c.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) | |
9 | g.135786327C>A | CA375491698 | KCNT1 | c.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) | |
9 | g.135786327C>G | CA375491699 | KCNT1 | c.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) | |
9 | g.135786327C>T | CA375491700 | KCNT1 | c.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 |
9 | g.135786328A>C | CA467821224 | KCNT1 | c.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=) | |
9 | g.135786328A>G | CA467821223 | KCNT1 | c.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 |
9 | g.135786328A>T | CA467821222 | KCNT1 | c.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=) | |
9 | g.135786329C>A | CA375491701 | KCNT1 | c.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 |
9 | g.135786329C= | CA1883887960 | KCNT1 | c.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=) | |
9 | g.135786329C>G | CA201424048 | KCNT1 | c.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 |
9 | g.135786329C>T | CA467821225 | KCNT1 | c.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 |
9 | g.135786330T>A | CA375491703 | KCNT1 | c.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 |
9 | g.135786330T>C | CA375491704 | KCNT1 | c.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) | |
9 | g.135786330T>G | CA375491702 | KCNT1 | c.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) | |
9 | g.135786330dup | CA591364973 | KCNT1 | c.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 |
9 | g.135786331G>A | CA153314 | KCNT1 | c.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 |
9 | g.135786331G>C | CA467821227 | KCNT1 | c.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=) | |
9 | g.135786331G= | CA1883887971 | KCNT1 | c.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=) | |
9 | g.135786331G>T | CA467821226 | KCNT1 | c.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 |
9 | g.135786333_135786340del | CA2692525543 | KCNT1 | c.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 |
9 | g.135786332C>A | CA375491705 | KCNT1 | c.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 |
9 | g.135786332C>G | CA375491706 | KCNT1 | c.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) | |
9 | g.135786332C>T | CA467821228 | KCNT1 | c.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=) | |
9 | g.135786333T>A | CA375491707 | KCNT1 | c.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) | |
9 | g.135786333T>C | CA375491708 | KCNT1 | c.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) | |
9 | g.135786333T>G | CA375491709 | KCNT1 | c.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) | |
9 | g.135786334del | CA2692525547 | KCNT1 | c.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 |
9 | g.135786334A>C | CA467821229 | KCNT1 | c.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=) | |
9 | g.135786334A>G | CA467821230 | KCNT1 | c.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 |
9 | g.135786334A>T | CA467821231 | KCNT1 | c.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=) | |
9 | g.135786335C>A | CA16606431 | KCNT1 | c.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 |
9 | g.135786335C= | CA1883887985 | KCNT1 | c.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=) | |
9 | g.135786335C>G | CA5327778 | KCNT1 | c.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 |
9 | g.135786335C>T | CA5327777 | KCNT1 | c.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 |
9 | g.135786337_135786339dup | CA2580080086 | KCNT1 | c.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 |
9 | g.135786337_135786339del | CA2692525554 | KCNT1 | c.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 |
9 | g.135786336G>A | CA5327779 | KCNT1 | c.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 |
9 | g.135786336G>C | CA5327781 | KCNT1 | c.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 |
9 | g.135786336G= | CA1883887997 | KCNT1 | c.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=) | |
9 | g.135786336G>T | CA5327780 | KCNT1 | c.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 |
9 | g.135786337G>A | CA467821232 | KCNT1 | c.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 |
9 | g.135786337G>C | CA467821233 | KCNT1 | c.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=) | |
9 | g.135786337G>T | CA467821234 | KCNT1 | c.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 |
9 | g.135786338C>A | CA375491710 | KCNT1 | c.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 |
9 | g.135786338C= | CA1883888009 | KCNT1 | c.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=) | |
9 | g.135786338C>G | CA375491711 | KCNT1 | c.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 |
9 | g.135786338C>T | CA5327782 | KCNT1 | c.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 |
9 | g.135786339G>A | CA5327783 | KCNT1 | c.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 |
9 | g.135786339G>C | CA5327784 | KCNT1 | c.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 |
9 | g.135786339G= | CA1883888017 | KCNT1 | c.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=) | |
9 | g.135786339G>T | CA375491712 | KCNT1 | c.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 |
9 | g.135786339_135786341del | CA2692525570 | KCNT1 | c.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 |
9 | g.135786340C>A | CA467821235 | KCNT1 | c.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=) | |
9 | g.135786340C>G | CA467821236 | KCNT1 | c.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=) | |
9 | g.135786340C>T | CA467821237 | KCNT1 | c.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=) | |
9 | g.135786341A= | CA1883888031 | KCNT1 | c.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=) | |
9 | g.135786341A>C | CA375491713 | KCNT1 | c.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) | |
9 | g.135786341A>G | CA375491714 | KCNT1 | c.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 |
9 | g.135786341A>T | CA375491715 | KCNT1 | c.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) | |
9 | g.135786342A>C | CA375491716 | KCNT1 | c.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) | |
9 | g.135786342A>G | CA375491718 | KCNT1 | c.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) | |
9 | g.135786342A>T | CA375491717 | KCNT1 | c.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) | |
9 | g.135786343G>A | CA467821238 | KCNT1 | c.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 |
9 | g.135786343G>C | CA375491719 | KCNT1 | c.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) | |
9 | g.135786343G= | CA1883888034 | KCNT1 | c.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=) | |
9 | g.135786343G>T | CA375491720 | KCNT1 | c.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) | |
9 | g.135786344A>C | CA375491721 | KCNT1 | c.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) | |
9 | g.135786344A>G | CA375491722 | KCNT1 | c.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) | |
9 | g.135786344A>T | CA375491723 | KCNT1 | c.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) | |
9 | g.135786345G>A | CA375491725 | KCNT1 | c.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 |
9 | g.135786345G>C | CA375491726 | KCNT1 | c.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) | |
9 | g.135786345G= | CA1883888041 | KCNT1 | c.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=) | |
9 | g.135786345G>T | CA375491724 | KCNT1 | c.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) | |
9 | g.135786346C>A | CA375491728 | KCNT1 | c.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 |
9 | g.135786346C>G | CA375491727 | KCNT1 | c.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) | |
9 | g.135786346C>T | CA467821239 | KCNT1 | c.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 |
9 | g.135786346_135786347insACCCAC | CA2692525582 | KCNT1 | c.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 |
9 | g.135786347C>A | CA375491729 | KCNT1 | c.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 |
9 | g.135786347C>G | CA375491730 | KCNT1 | c.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) | |
9 | g.135786347C>T | CA467821240 | KCNT1 | c.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 |
9 | g.135786348T>A | CA375491731 | KCNT1 | c.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) | |
9 | g.135786348T>C | CA375491732 | KCNT1 | c.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 |
9 | g.135786348T>G | CA375491733 | KCNT1 | c.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) | |
9 | g.135786349G>A | CA467821241 | KCNT1 | c.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=) | |
9 | g.135786349G>C | CA467821242 | KCNT1 | c.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 |
9 | g.135786349G= | CA1883888046 | KCNT1 | c.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=) | |
9 | g.135786349G>T | CA467821243 | KCNT1 | c.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 |
9 | g.135786350C>A | CA375491736 | KCNT1 | c.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 |
9 | g.135786350C= | CA1883888051 | KCNT1 | c.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=) | |
9 | g.135786350C>G | CA375491734 | KCNT1 | c.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 |
9 | g.135786350C>T | CA375491735 | KCNT1 | c.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 |
9 | g.135786351A>C | CA375491737 | KCNT1 | c.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 |
9 | g.135786351A>G | CA375491738 | KCNT1 | c.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) | |
9 | g.135786351A>T | CA375491739 | KCNT1 | c.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) | |
9 | g.135786352G>A | CA201424129 | KCNT1 | c.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 |
9 | g.135786352G>C | CA375491740 | KCNT1 | c.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) | |
9 | g.135786352G= | CA1883888055 | KCNT1 | c.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=) | |
9 | g.135786352G>T | CA375491741 | KCNT1 | c.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) | |
9 | g.135786353T>A | CA375491742 | KCNT1 | c.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) | |
9 | g.135786353T>C | CA375491744 | KCNT1 | c.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 |
9 | g.135786353T>G | CA375491743 | KCNT1 | c.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) | |
9 | g.135786353T= | CA1883888065 | KCNT1 | c.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=) | |
9 | g.135786354G>A | CA375491745 | KCNT1 | c.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 |
9 | g.135786354G>C | CA375491746 | KCNT1 | c.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) | |
9 | g.135786354G>T | CA375491747 | KCNT1 | c.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) | |
9 | g.135786355G>A | CA375491748 | KCNT1 | c.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) | |
9 | g.135786355G>C | CA375491749 | KCNT1 | c.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) | |
9 | g.135786355G>T | CA375491750 | KCNT1 | c.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 |
9 | g.135786356G>A | CA375491751 | KCNT1 | c.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 |
9 | g.135786356G>C | CA375491752 | KCNT1 | c.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 |
9 | g.135786356G= | CA1883888068 | KCNT1 | c.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=) | |
9 | g.135786356G>T | CA375491753 | KCNT1 | c.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 |
9 | g.135786357C>A | CA375491754 | KCNT1 | c.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 |
9 | g.135786357C= | CA1883888078 | KCNT1 | c.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=) | |
9 | g.135786357C>G | CA375491755 | KCNT1 | c.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) | |
9 | g.135786357C>T | CA375491756 | KCNT1 | c.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 |
9 | g.135786358C>A | CA467821246 | KCNT1 | c.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 |
9 | g.135786358C>G | CA467821244 | KCNT1 | c.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=) | |
9 | g.135786358C>T | CA467821245 | KCNT1 | c.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 |
9 | g.135786359C>A | CA467821247 | KCNT1 | c.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 |
9 | g.135786359C= | CA1883888082 | KCNT1 | c.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=) | |
9 | g.135786359C>G | CA375491757 | KCNT1 | c.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 |
9 | g.135786359C>T | CA205412 | KCNT1 | c.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 |
9 | g.135786360G>A | CA5327785 | KCNT1 | c.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 |
9 | g.135786360G>C | CA375491758 | KCNT1 | c.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) | |
9 | g.135786360G= | CA1883888094 | KCNT1 | c.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=) | |
9 | g.135786360G>T | CA375491759 | KCNT1 | c.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 |
9 | g.135786361del | CA2579511469 | KCNT1 | c.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) | |
9 | g.135786361G>A | CA467821250 | KCNT1 | c.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=) | |
9 | g.135786361G>C | CA467821249 | KCNT1 | c.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 |
9 | g.135786361G= | CA1883888097 | KCNT1 | c.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=) | |
9 | g.135786361G>T | CA467821248 | KCNT1 | c.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=) | |
9 | g.135786362A>C | CA467821251 | KCNT1 | c.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=) | |
9 | g.135786362A>G | CA375491760 | KCNT1 | c.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 |
9 | g.135786362A>T | CA375491761 | KCNT1 | c.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) | |
9 | g.135786363G>A | CA375491762 | KCNT1 | c.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) | |
9 | g.135786363G>C | CA375491763 | KCNT1 | c.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) | |
9 | g.135786363G>T | CA375491764 | KCNT1 | c.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 |
9 | g.135786364G>A | CA467821252 | KCNT1 | c.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=) | |
9 | g.135786364G>C | CA375491765 | KCNT1 | c.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) | |
9 | g.135786364G>T | CA375491766 | KCNT1 | c.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 |
9 | g.135786365C>A | CA201424185 | KCNT1 | c.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 |
9 | g.135786365C= | CA1883888100 | KCNT1 | c.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=) | |
9 | g.135786365C>G | CA375491767 | KCNT1 | c.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) | |
9 | g.135786365C>T | CA467821253 | KCNT1 | c.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=) | |
9 | g.135786366T>A | CA375491769 | KCNT1 | c.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) | |
9 | g.135786366T>C | CA375491770 | KCNT1 | c.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) | |
9 | g.135786366T>G | CA375491768 | KCNT1 | c.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) | |
9 | g.135786367G>A | CA467821254 | KCNT1 | c.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 |
9 | g.135786367G>C | CA467821255 | KCNT1 | c.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=) | |
9 | g.135786367G>T | CA467821256 | KCNT1 | c.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=) | |
9 | g.135786368A>C | CA375491771 | KCNT1 | c.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) | |
9 | g.135786368A>G | CA375491772 | KCNT1 | c.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) | |
9 | g.135786368A>T | CA375491773 | KCNT1 | c.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 |
9 | g.135786369G>A | CA375491774 | KCNT1 | c.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 |
9 | g.135786369G>C | CA375491775 | KCNT1 | c.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) | |
9 | g.135786369G= | CA1883888103 | KCNT1 | c.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=) | |
9 | g.135786369G>T | CA375491776 | KCNT1 | c.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 |
9 | g.135786370C>A | CA375491777 | KCNT1 | c.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 |
9 | g.135786370C>G | CA375491778 | KCNT1 | c.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) | |
9 | g.135786370C>T | CA467821257 | KCNT1 | c.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=) | |
9 | g.135786371C>A | CA375491779 | KCNT1 | c.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) | |
9 | g.135786371C= | CA1883888106 | KCNT1 | c.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=) | |
9 | g.135786371C>G | CA5327787 | KCNT1 | c.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 |
9 | g.135786371C>T | CA5327786 | KCNT1 | c.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 |
9 | g.135786372G>A | CA201424204 | KCNT1 | c.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 |
9 | g.135786372G>C | CA375491780 | KCNT1 | c.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) | |
9 | g.135786372G= | CA1883888113 | KCNT1 | c.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=) | |
9 | g.135786372G>T | CA375491781 | KCNT1 | c.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 |
9 | g.135786373C>A | CA467821259 | KCNT1 | c.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=) | |
9 | g.135786373C= | CA1883888120 | KCNT1 | c.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=) | |
9 | g.135786373C>G | CA467821258 | KCNT1 | c.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=) | |
9 | g.135786373C>T | CA5327788 | KCNT1 | c.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 |
9 | g.135786374A= | CA1883888124 | KCNT1 | c.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=) | |
9 | g.135786374A>C | CA375491783 | KCNT1 | c.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) | |
9 | g.135786374A>G | CA375491782 | KCNT1 | c.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 |
9 | g.135786374A>T | CA375491784 | KCNT1 | c.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) | |
9 | g.135786375A= | CA1883888128 | KCNT1 | c.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=) | |
9 | g.135786375A>C | CA375491785 | KCNT1 | c.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 |
9 | g.135786375A>G | CA5327789 | KCNT1 | c.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 |
9 | g.135786375A>T | CA375491786 | KCNT1 | c.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) | |
9 | g.135786376G>A | CA467821260 | KCNT1 | c.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 |
9 | g.135786376G>C | CA375491787 | KCNT1 | c.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) | |
9 | g.135786376G>T | CA375491788 | KCNT1 | c.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 |
9 | g.135786377G>A | CA375491789 | KCNT1 | c.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) | |
9 | g.135786377G>C | CA375491790 | KCNT1 | c.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) | |
9 | g.135786377G>T | CA375491791 | KCNT1 | c.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) | |
9 | g.135786378C>A | CA375491792 | KCNT1 | c.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) | |
9 | g.135786378C= | CA1883888135 | KCNT1 | c.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=) | |
9 | g.135786378C>G | CA375491793 | KCNT1 | c.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) | |
9 | g.135786378C>T | CA5327790 | KCNT1 | c.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 |
9 | g.135786379G>A | CA5327791 | KCNT1 | c.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 |
9 | g.135786379G>C | CA467821261 | KCNT1 | c.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=) | |
9 | g.135786379G= | CA1883888148 | KCNT1 | c.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=) | |
9 | g.135786379G>T | CA201424218 | KCNT1 | c.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 |
9 | g.135786380C>A | CA375491794 | KCNT1 | c.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 |
9 | g.135786380C= | CA1883888153 | KCNT1 | c.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=) | |
9 | g.135786380C>G | CA375491796 | KCNT1 | c.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) | |
9 | g.135786380C>T | CA375491798 | KCNT1 | c.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 |
9 | g.135786381C>A | CA375491805 | KCNT1 | c.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) | |
9 | g.135786381C>G | CA375491801 | KCNT1 | c.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) | |
9 | g.135786381C>T | CA375491803 | KCNT1 | c.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) | |
9 | g.135786382C>A | CA467821262 | KCNT1 | c.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 |
9 | g.135786382C>G | CA467821263 | KCNT1 | c.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=) | |
9 | g.135786382C>T | CA467821264 | KCNT1 | c.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 |
9 | g.135786383A>C | CA375491809 | KCNT1 | c.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) | |
9 | g.135786383A>G | CA375491811 | KCNT1 | c.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 |
9 | g.135786383A>T | CA375491813 | KCNT1 | c.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) | |
9 | g.135786384A= | CA1883888157 | KCNT1 | c.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=) | |
9 | g.135786384A>C | CA375491817 | KCNT1 | c.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) | |
9 | g.135786384A>G | CA375491818 | KCNT1 | c.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 |
9 | g.135786384A>T | CA375491820 | KCNT1 | c.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) | |
9 | g.135786385G>A | CA201424223 | KCNT1 | c.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 |
9 | g.135786385G>C | CA375491825 | KCNT1 | c.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) | |
9 | g.135786385G= | CA1883888160 | KCNT1 | c.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=) | |
9 | g.135786385G>T | CA375491827 | KCNT1 | c.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) | |
9 | g.135786391_135786394del | CA645541870 | KCNT1 | c.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 |
9 | g.135786386C>A | CA375491831 | KCNT1 | c.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) | |
9 | g.135786386C>G | CA375491833 | KCNT1 | c.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 |
9 | g.135786386C>T | CA375491836 | KCNT1 | c.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) | |
9 | g.135786387A= | CA1883888163 | KCNT1 | c.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=) | |
9 | g.135786387A>C | CA375491838 | KCNT1 | c.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) | |
9 | g.135786387A>G | CA5327792 | KCNT1 | c.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 |
9 | g.135786387A>T | CA375491841 | KCNT1 | c.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 |
9 | g.135786388G>A | CA467821265 | KCNT1 | c.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 |
9 | g.135786388G>C | CA375491846 | KCNT1 | c.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) | |
9 | g.135786388G>T | CA375491848 | KCNT1 | c.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) | |
9 | g.135786389G>A | CA375491851 | KCNT1 | c.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 |
9 | g.135786389G>C | CA375491855 | KCNT1 | c.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) | |
9 | g.135786389G>T | CA375491857 | KCNT1 | c.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) | |
9 | g.135786390C>A | CA375491861 | KCNT1 | c.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) | |
9 | g.135786390C= | CA1883888164 | KCNT1 | c.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=) | |
9 | g.135786390C>G | CA375491863 | KCNT1 | c.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) | |
9 | g.135786390C>T | CA375491866 | KCNT1 | c.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 |
9 | g.135786391A>C | CA467821266 | KCNT1 | c.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 |
9 | g.135786391A>G | CA467821267 | KCNT1 | c.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=) | |
9 | g.135786391A>T | CA467821268 | KCNT1 | c.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=) | |
9 | g.135786392G>A | CA375491869 | KCNT1 | c.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 |
9 | g.135786392G>C | CA375491871 | KCNT1 | c.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 |
9 | g.135786392G= | CA1883888169 | KCNT1 | c.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=) | |
9 | g.135786392G>T | CA375491873 | KCNT1 | c.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 |
9 | g.135786393G>A | CA375491881 | KCNT1 | c.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 |
9 | g.135786393G>C | CA375491878 | KCNT1 | c.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 |
9 | g.135786393G= | CA1883888173 | KCNT1 | c.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=) | |
9 | g.135786393G>T | CA375491877 | KCNT1 | c.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) | |
9 | g.135786394C>A | CA467821271 | KCNT1 | c.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=) | |
9 | g.135786394C>G | CA467821270 | KCNT1 | c.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=) | |
9 | g.135786394C>T | CA467821269 | KCNT1 | c.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 |
9 | g.135786395C>A | CA467821272 | KCNT1 | c.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 |
9 | g.135786395C= | CA1883888178 | KCNT1 | c.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=) | |
9 | g.135786395C>G | CA375491884 | KCNT1 | c.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 |
9 | g.135786395C>T | CA5327793 | KCNT1 | c.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 |
9 | g.135786395_135786396insCT | CA591364974 | KCNT1 | c.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 |
9 | g.135786396G>A | CA5327794 | KCNT1 | c.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 |
9 | g.135786396G>C | CA201424258 | KCNT1 | c.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 |
9 | g.135786396G= | CA1883888189 | KCNT1 | c.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=) | |
9 | g.135786396G>T | CA375491886 | KCNT1 | c.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) | |
9 | g.135786397G>A | CA467821273 | KCNT1 | c.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=) | |
9 | g.135786397G>C | CA467821274 | KCNT1 | c.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=) | |
9 | g.135786397G= | CA1883888193 | KCNT1 | c.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=) | |
9 | g.135786397G>T | CA467821275 | KCNT1 | c.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 |
9 | g.135786398G>A | CA375491889 | KCNT1 | c.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) | |
9 | g.135786398G>C | CA375491892 | KCNT1 | c.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 |
9 | g.135786398G= | CA1883888199 | KCNT1 | c.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=) | |
9 | g.135786398G>T | CA375491895 | KCNT1 | c.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) | |
9 | g.135786399C>A | CA375491898 | KCNT1 | c.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 |
9 | g.135786399C= | CA1883888205 | KCNT1 | c.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=) | |
9 | g.135786399C>G | CA375491901 | KCNT1 | c.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) | |
9 | g.135786399C>T | CA5327795 | KCNT1 | c.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 |
9 | g.135786399_135786400insCACCT | CA591364975 | KCNT1 | c.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 |
9 | g.135786400G>A | CA5327796 | KCNT1 | c.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 |
9 | g.135786400G>C | CA467821276 | KCNT1 | c.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=) | |
9 | g.135786400G= | CA1883888215 | KCNT1 | c.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=) | |
9 | g.135786400G>T | CA467821277 | KCNT1 | c.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=) | |
9 | g.135786400_135786401insCCAT | CA591364976 | KCNT1 | c.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 |
9 | g.135786401G>A | CA5327797 | KCNT1 | c.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 |
9 | g.135786401G>C | CA375491909 | KCNT1 | c.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) | |
9 | g.135786401G= | CA1883888222 | KCNT1 | c.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=) | |
9 | g.135786401G>T | CA375491907 | KCNT1 | c.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) | |
9 | g.135786402C>A | CA375491911 | KCNT1 | c.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 |
9 | g.135786402C= | CA1883888227 | KCNT1 | c.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=) | |
9 | g.135786402C>G | CA375491913 | KCNT1 | c.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) | |
9 | g.135786402C>T | CA5327798 | KCNT1 | c.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 |
9 | g.135786403G>A | CA5327799 | KCNT1 | c.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 |
9 | g.135786403G>C | CA467821278 | KCNT1 | c.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=) | |
9 | g.135786403G= | CA1883888233 | KCNT1 | c.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=) | |
9 | g.135786403G>T | CA467821279 | KCNT1 | c.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 |
9 | g.135786404G>A | CA375491919 | KCNT1 | c.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 |
9 | g.135786404G>C | CA375491921 | KCNT1 | c.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) | |
9 | g.135786404G= | CA1883888239 | KCNT1 | c.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=) | |
9 | g.135786404G>T | CA375491924 | KCNT1 | c.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 |
9 | g.135786405C>A | CA375491927 | KCNT1 | c.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) | |
9 | g.135786405C= | CA1883888243 | KCNT1 | c.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=) | |
9 | g.135786405C>G | CA375491929 | KCNT1 | c.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) | |
9 | g.135786405C>T | CA5327800 | KCNT1 | c.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 |
9 | g.135786406C>A | CA467821280 | KCNT1 | c.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=) | |
9 | g.135786406C= | CA1883888247 | KCNT1 | c.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=) | |
9 | g.135786406C>G | CA5327802 | KCNT1 | c.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 |
9 | g.135786406C>T | CA5327801 | KCNT1 | c.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 |