WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| 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 |