UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.113330396G>A | CA357935206 | ANK2 | c.3192G>A (p.Met1064Ile) c.3132G>A (p.Met1044Ile) n.787G>A n.6413G>A n.3187G>A n.766G>A n.2163G>A n.1431G>A n.777G>A n.1195G>A n.145G>A c.3051G>A (p.Met1017Ile) c.2988G>A (p.Met996Ile) c.537G>A (p.Met179Ile) c.2964G>A (p.Met988Ile) c.3087G>A (p.Met1029Ile) c.3024G>A (p.Met1008Ile) c.2889G>A (p.Met963Ile) c.2967G>A (p.Met989Ile) c.2766G>A (p.Met922Ile) c.2865G>A (p.Met955Ile) c.3096G>A (p.Met1032Ile) c.3000G>A (p.Met1000Ile) c.2973G>A (p.Met991Ile) c.2952G>A (p.Met984Ile) c.2925G>A (p.Met975Ile) c.714G>A (p.Met238Ile) c.2568G>A (p.Met856Ile) c.678G>A (p.Met226Ile) c.2949G>A (p.Met983Ile) c.2658G>A (p.Met886Ile) c.2808G>A (p.Met936Ile) c.187G>A c.3183G>A (p.Met1061Ile) c.3147G>A (p.Met1049Ile) c.3237G>A (p.Met1079Ile) c.3201G>A (p.Met1067Ile) c.3177G>A (p.Met1059Ile) c.3123G>A (p.Met1041Ile) c.3063G>A (p.Met1021Ile) c.3129G>A (p.Met1043Ile) c.3093G>A (p.Met1031Ile) c.3048G>A (p.Met1016Ile) c.3021G>A (p.Met1007Ile) c.2985G>A (p.Met995Ile) c.3009G>A (p.Met1003Ile) c.2838G>A (p.Met946Ile) c.2850G>A (p.Met950Ile) c.3168G>A (p.Met1056Ile) c.3078G>A (p.Met1026Ile) c.3054G>A (p.Met1018Ile) c.3036G>A (p.Met1012Ile) c.3108G>A (p.Met1036Ile) c.2667G>A (p.Met889Ile) c.2994G>A (p.Met998Ile) c.3015G>A (p.Met1005Ile) | dbSNP |
| 4 | g.113330396G>C | CA357935207 | ANK2 | c.3192G>C (p.Met1064Ile) c.3132G>C (p.Met1044Ile) n.787G>C n.6413G>C n.3187G>C n.766G>C n.2163G>C n.1431G>C n.777G>C n.1195G>C n.145G>C c.3051G>C (p.Met1017Ile) c.2988G>C (p.Met996Ile) c.537G>C (p.Met179Ile) c.2964G>C (p.Met988Ile) c.3087G>C (p.Met1029Ile) c.3024G>C (p.Met1008Ile) c.2889G>C (p.Met963Ile) c.2967G>C (p.Met989Ile) c.2766G>C (p.Met922Ile) c.2865G>C (p.Met955Ile) c.3096G>C (p.Met1032Ile) c.3000G>C (p.Met1000Ile) c.2973G>C (p.Met991Ile) c.2952G>C (p.Met984Ile) c.2925G>C (p.Met975Ile) c.714G>C (p.Met238Ile) c.2568G>C (p.Met856Ile) c.678G>C (p.Met226Ile) c.2949G>C (p.Met983Ile) c.2658G>C (p.Met886Ile) c.2808G>C (p.Met936Ile) c.187G>C c.3183G>C (p.Met1061Ile) c.3147G>C (p.Met1049Ile) c.3237G>C (p.Met1079Ile) c.3201G>C (p.Met1067Ile) c.3177G>C (p.Met1059Ile) c.3123G>C (p.Met1041Ile) c.3063G>C (p.Met1021Ile) c.3129G>C (p.Met1043Ile) c.3093G>C (p.Met1031Ile) c.3048G>C (p.Met1016Ile) c.3021G>C (p.Met1007Ile) c.2985G>C (p.Met995Ile) c.3009G>C (p.Met1003Ile) c.2838G>C (p.Met946Ile) c.2850G>C (p.Met950Ile) c.3168G>C (p.Met1056Ile) c.3078G>C (p.Met1026Ile) c.3054G>C (p.Met1018Ile) c.3036G>C (p.Met1012Ile) c.3108G>C (p.Met1036Ile) c.2667G>C (p.Met889Ile) c.2994G>C (p.Met998Ile) c.3015G>C (p.Met1005Ile) | dbSNP |
| 4 | g.113330396G>T | CA357935208 | ANK2 | c.3192G>T (p.Met1064Ile) c.3132G>T (p.Met1044Ile) n.787G>T n.6413G>T n.3187G>T n.766G>T n.2163G>T n.1431G>T n.777G>T n.1195G>T n.145G>T c.3051G>T (p.Met1017Ile) c.2988G>T (p.Met996Ile) c.537G>T (p.Met179Ile) c.2964G>T (p.Met988Ile) c.3087G>T (p.Met1029Ile) c.3024G>T (p.Met1008Ile) c.2889G>T (p.Met963Ile) c.2967G>T (p.Met989Ile) c.2766G>T (p.Met922Ile) c.2865G>T (p.Met955Ile) c.3096G>T (p.Met1032Ile) c.3000G>T (p.Met1000Ile) c.2973G>T (p.Met991Ile) c.2952G>T (p.Met984Ile) c.2925G>T (p.Met975Ile) c.714G>T (p.Met238Ile) c.2568G>T (p.Met856Ile) c.678G>T (p.Met226Ile) c.2949G>T (p.Met983Ile) c.2658G>T (p.Met886Ile) c.2808G>T (p.Met936Ile) c.187G>T c.3183G>T (p.Met1061Ile) c.3147G>T (p.Met1049Ile) c.3237G>T (p.Met1079Ile) c.3201G>T (p.Met1067Ile) c.3177G>T (p.Met1059Ile) c.3123G>T (p.Met1041Ile) c.3063G>T (p.Met1021Ile) c.3129G>T (p.Met1043Ile) c.3093G>T (p.Met1031Ile) c.3048G>T (p.Met1016Ile) c.3021G>T (p.Met1007Ile) c.2985G>T (p.Met995Ile) c.3009G>T (p.Met1003Ile) c.2838G>T (p.Met946Ile) c.2850G>T (p.Met950Ile) c.3168G>T (p.Met1056Ile) c.3078G>T (p.Met1026Ile) c.3054G>T (p.Met1018Ile) c.3036G>T (p.Met1012Ile) c.3108G>T (p.Met1036Ile) c.2667G>T (p.Met889Ile) c.2994G>T (p.Met998Ile) c.3015G>T (p.Met1005Ile) | |
| 4 | g.113330397C>A | CA357935209 | ANK2 | c.3193C>A (p.Pro1065Thr) c.3133C>A (p.Pro1045Thr) n.788C>A n.6414C>A n.3188C>A n.767C>A n.2164C>A n.1432C>A n.778C>A n.1196C>A n.146C>A c.3052C>A (p.Pro1018Thr) c.2989C>A (p.Pro997Thr) c.538C>A (p.Pro180Thr) c.2965C>A (p.Pro989Thr) c.3088C>A (p.Pro1030Thr) c.3025C>A (p.Pro1009Thr) c.2890C>A (p.Pro964Thr) c.2968C>A (p.Pro990Thr) c.2767C>A (p.Pro923Thr) c.2866C>A (p.Pro956Thr) c.3097C>A (p.Pro1033Thr) c.3001C>A (p.Pro1001Thr) c.2974C>A (p.Pro992Thr) c.2953C>A (p.Pro985Thr) c.2926C>A (p.Pro976Thr) c.715C>A (p.Pro239Thr) c.2569C>A (p.Pro857Thr) c.679C>A (p.Pro227Thr) c.2950C>A (p.Pro984Thr) c.2659C>A (p.Pro887Thr) c.2809C>A (p.Pro937Thr) c.188C>A c.3184C>A (p.Pro1062Thr) c.3148C>A (p.Pro1050Thr) c.3238C>A (p.Pro1080Thr) c.3202C>A (p.Pro1068Thr) c.3178C>A (p.Pro1060Thr) c.3124C>A (p.Pro1042Thr) c.3064C>A (p.Pro1022Thr) c.3130C>A (p.Pro1044Thr) c.3094C>A (p.Pro1032Thr) c.3049C>A (p.Pro1017Thr) c.3022C>A (p.Pro1008Thr) c.2986C>A (p.Pro996Thr) c.3010C>A (p.Pro1004Thr) c.2839C>A (p.Pro947Thr) c.2851C>A (p.Pro951Thr) c.3169C>A (p.Pro1057Thr) c.3079C>A (p.Pro1027Thr) c.3055C>A (p.Pro1019Thr) c.3037C>A (p.Pro1013Thr) c.3109C>A (p.Pro1037Thr) c.2668C>A (p.Pro890Thr) c.2995C>A (p.Pro999Thr) c.3016C>A (p.Pro1006Thr) | dbSNP |
| 4 | g.113330397C>G | CA357935210 | ANK2 | c.3193C>G (p.Pro1065Ala) c.3133C>G (p.Pro1045Ala) n.788C>G n.6414C>G n.3188C>G n.767C>G n.2164C>G n.1432C>G n.778C>G n.1196C>G n.146C>G c.3052C>G (p.Pro1018Ala) c.2989C>G (p.Pro997Ala) c.538C>G (p.Pro180Ala) c.2965C>G (p.Pro989Ala) c.3088C>G (p.Pro1030Ala) c.3025C>G (p.Pro1009Ala) c.2890C>G (p.Pro964Ala) c.2968C>G (p.Pro990Ala) c.2767C>G (p.Pro923Ala) c.2866C>G (p.Pro956Ala) c.3097C>G (p.Pro1033Ala) c.3001C>G (p.Pro1001Ala) c.2974C>G (p.Pro992Ala) c.2953C>G (p.Pro985Ala) c.2926C>G (p.Pro976Ala) c.715C>G (p.Pro239Ala) c.2569C>G (p.Pro857Ala) c.679C>G (p.Pro227Ala) c.2950C>G (p.Pro984Ala) c.2659C>G (p.Pro887Ala) c.2809C>G (p.Pro937Ala) c.188C>G c.3184C>G (p.Pro1062Ala) c.3148C>G (p.Pro1050Ala) c.3238C>G (p.Pro1080Ala) c.3202C>G (p.Pro1068Ala) c.3178C>G (p.Pro1060Ala) c.3124C>G (p.Pro1042Ala) c.3064C>G (p.Pro1022Ala) c.3130C>G (p.Pro1044Ala) c.3094C>G (p.Pro1032Ala) c.3049C>G (p.Pro1017Ala) c.3022C>G (p.Pro1008Ala) c.2986C>G (p.Pro996Ala) c.3010C>G (p.Pro1004Ala) c.2839C>G (p.Pro947Ala) c.2851C>G (p.Pro951Ala) c.3169C>G (p.Pro1057Ala) c.3079C>G (p.Pro1027Ala) c.3055C>G (p.Pro1019Ala) c.3037C>G (p.Pro1013Ala) c.3109C>G (p.Pro1037Ala) c.2668C>G (p.Pro890Ala) c.2995C>G (p.Pro999Ala) c.3016C>G (p.Pro1006Ala) | dbSNP |
| 4 | g.113330397C>T | CA357935211 | ANK2 | c.3193C>T (p.Pro1065Ser) c.3133C>T (p.Pro1045Ser) n.788C>T n.6414C>T n.3188C>T n.767C>T n.2164C>T n.1432C>T n.778C>T n.1196C>T n.146C>T c.3052C>T (p.Pro1018Ser) c.2989C>T (p.Pro997Ser) c.538C>T (p.Pro180Ser) c.2965C>T (p.Pro989Ser) c.3088C>T (p.Pro1030Ser) c.3025C>T (p.Pro1009Ser) c.2890C>T (p.Pro964Ser) c.2968C>T (p.Pro990Ser) c.2767C>T (p.Pro923Ser) c.2866C>T (p.Pro956Ser) c.3097C>T (p.Pro1033Ser) c.3001C>T (p.Pro1001Ser) c.2974C>T (p.Pro992Ser) c.2953C>T (p.Pro985Ser) c.2926C>T (p.Pro976Ser) c.715C>T (p.Pro239Ser) c.2569C>T (p.Pro857Ser) c.679C>T (p.Pro227Ser) c.2950C>T (p.Pro984Ser) c.2659C>T (p.Pro887Ser) c.2809C>T (p.Pro937Ser) c.188C>T c.3184C>T (p.Pro1062Ser) c.3148C>T (p.Pro1050Ser) c.3238C>T (p.Pro1080Ser) c.3202C>T (p.Pro1068Ser) c.3178C>T (p.Pro1060Ser) c.3124C>T (p.Pro1042Ser) c.3064C>T (p.Pro1022Ser) c.3130C>T (p.Pro1044Ser) c.3094C>T (p.Pro1032Ser) c.3049C>T (p.Pro1017Ser) c.3022C>T (p.Pro1008Ser) c.2986C>T (p.Pro996Ser) c.3010C>T (p.Pro1004Ser) c.2839C>T (p.Pro947Ser) c.2851C>T (p.Pro951Ser) c.3169C>T (p.Pro1057Ser) c.3079C>T (p.Pro1027Ser) c.3055C>T (p.Pro1019Ser) c.3037C>T (p.Pro1013Ser) c.3109C>T (p.Pro1037Ser) c.2668C>T (p.Pro890Ser) c.2995C>T (p.Pro999Ser) c.3016C>T (p.Pro1006Ser) | dbSNP |
| 4 | g.113330399_113330401dup | CA2671820627 | ANK2 | c.3195_3197dup (p.Pro1066_Met1067insPro) c.3135_3137dup (p.Pro1046_Met1047insPro) n.790_792dup n.6416_6418dup n.3190_3192dup n.769_771dup n.2166_2168dup n.1434_1436dup n.780_782dup n.1198_1200dup n.148_150dup c.3054_3056dup (p.Pro1019_Met1020insPro) c.2991_2993dup (p.Pro998_Met999insPro) c.540_542dup (p.Pro181_Met182insPro) c.2967_2969dup (p.Pro990_Met991insPro) c.3090_3092dup (p.Pro1031_Met1032insPro) c.3027_3029dup (p.Pro1010_Met1011insPro) c.2892_2894dup (p.Pro965_Met966insPro) c.2970_2972dup (p.Pro991_Met992insPro) c.2769_2771dup (p.Pro924_Met925insPro) c.2868_2870dup (p.Pro957_Met958insPro) c.3099_3101dup (p.Pro1034_Met1035insPro) c.3003_3005dup (p.Pro1002_Met1003insPro) c.2976_2978dup (p.Pro993_Met994insPro) c.2955_2957dup (p.Pro986_Met987insPro) c.2928_2930dup (p.Pro977_Met978insPro) c.717_719dup (p.Pro240_Met241insPro) c.2571_2573dup (p.Pro858_Met859insPro) c.681_683dup (p.Pro228_Met229insPro) c.2952_2954dup (p.Pro985_Met986insPro) c.2661_2663dup (p.Pro888_Met889insPro) c.2811_2813dup (p.Pro938_Met939insPro) c.190_192dup c.3186_3188dup (p.Pro1063_Met1064insPro) c.3150_3152dup (p.Pro1051_Met1052insPro) c.3240_3242dup (p.Pro1081_Met1082insPro) c.3204_3206dup (p.Pro1069_Met1070insPro) c.3180_3182dup (p.Pro1061_Met1062insPro) c.3126_3128dup (p.Pro1043_Met1044insPro) c.3066_3068dup (p.Pro1023_Met1024insPro) c.3132_3134dup (p.Pro1045_Met1046insPro) c.3096_3098dup (p.Pro1033_Met1034insPro) c.3051_3053dup (p.Pro1018_Met1019insPro) c.3024_3026dup (p.Pro1009_Met1010insPro) c.2988_2990dup (p.Pro997_Met998insPro) c.3012_3014dup (p.Pro1005_Met1006insPro) c.2841_2843dup (p.Pro948_Met949insPro) c.2853_2855dup (p.Pro952_Met953insPro) c.3171_3173dup (p.Pro1058_Met1059insPro) c.3081_3083dup (p.Pro1028_Met1029insPro) c.3057_3059dup (p.Pro1020_Met1021insPro) c.3039_3041dup (p.Pro1014_Met1015insPro) c.3111_3113dup (p.Pro1038_Met1039insPro) c.2670_2672dup (p.Pro891_Met892insPro) c.2997_2999dup (p.Pro1000_Met1001insPro) c.3018_3020dup (p.Pro1007_Met1008insPro) | gnomAD v4 |
| 4 | g.113330398C>A | CA357935212 | ANK2 | c.3194C>A (p.Pro1065His) c.3134C>A (p.Pro1045His) n.789C>A n.6415C>A n.3189C>A n.768C>A n.2165C>A n.1433C>A n.779C>A n.1197C>A n.147C>A c.3053C>A (p.Pro1018His) c.2990C>A (p.Pro997His) c.539C>A (p.Pro180His) c.2966C>A (p.Pro989His) c.3089C>A (p.Pro1030His) c.3026C>A (p.Pro1009His) c.2891C>A (p.Pro964His) c.2969C>A (p.Pro990His) c.2768C>A (p.Pro923His) c.2867C>A (p.Pro956His) c.3098C>A (p.Pro1033His) c.3002C>A (p.Pro1001His) c.2975C>A (p.Pro992His) c.2954C>A (p.Pro985His) c.2927C>A (p.Pro976His) c.716C>A (p.Pro239His) c.2570C>A (p.Pro857His) c.680C>A (p.Pro227His) c.2951C>A (p.Pro984His) c.2660C>A (p.Pro887His) c.2810C>A (p.Pro937His) c.189C>A c.3185C>A (p.Pro1062His) c.3149C>A (p.Pro1050His) c.3239C>A (p.Pro1080His) c.3203C>A (p.Pro1068His) c.3179C>A (p.Pro1060His) c.3125C>A (p.Pro1042His) c.3065C>A (p.Pro1022His) c.3131C>A (p.Pro1044His) c.3095C>A (p.Pro1032His) c.3050C>A (p.Pro1017His) c.3023C>A (p.Pro1008His) c.2987C>A (p.Pro996His) c.3011C>A (p.Pro1004His) c.2840C>A (p.Pro947His) c.2852C>A (p.Pro951His) c.3170C>A (p.Pro1057His) c.3080C>A (p.Pro1027His) c.3056C>A (p.Pro1019His) c.3038C>A (p.Pro1013His) c.3110C>A (p.Pro1037His) c.2669C>A (p.Pro890His) c.2996C>A (p.Pro999His) c.3017C>A (p.Pro1006His) | |
| 4 | g.113330398C>G | CA357935213 | ANK2 | c.3194C>G (p.Pro1065Arg) c.3134C>G (p.Pro1045Arg) n.789C>G n.6415C>G n.3189C>G n.768C>G n.2165C>G n.1433C>G n.779C>G n.1197C>G n.147C>G c.3053C>G (p.Pro1018Arg) c.2990C>G (p.Pro997Arg) c.539C>G (p.Pro180Arg) c.2966C>G (p.Pro989Arg) c.3089C>G (p.Pro1030Arg) c.3026C>G (p.Pro1009Arg) c.2891C>G (p.Pro964Arg) c.2969C>G (p.Pro990Arg) c.2768C>G (p.Pro923Arg) c.2867C>G (p.Pro956Arg) c.3098C>G (p.Pro1033Arg) c.3002C>G (p.Pro1001Arg) c.2975C>G (p.Pro992Arg) c.2954C>G (p.Pro985Arg) c.2927C>G (p.Pro976Arg) c.716C>G (p.Pro239Arg) c.2570C>G (p.Pro857Arg) c.680C>G (p.Pro227Arg) c.2951C>G (p.Pro984Arg) c.2660C>G (p.Pro887Arg) c.2810C>G (p.Pro937Arg) c.189C>G c.3185C>G (p.Pro1062Arg) c.3149C>G (p.Pro1050Arg) c.3239C>G (p.Pro1080Arg) c.3203C>G (p.Pro1068Arg) c.3179C>G (p.Pro1060Arg) c.3125C>G (p.Pro1042Arg) c.3065C>G (p.Pro1022Arg) c.3131C>G (p.Pro1044Arg) c.3095C>G (p.Pro1032Arg) c.3050C>G (p.Pro1017Arg) c.3023C>G (p.Pro1008Arg) c.2987C>G (p.Pro996Arg) c.3011C>G (p.Pro1004Arg) c.2840C>G (p.Pro947Arg) c.2852C>G (p.Pro951Arg) c.3170C>G (p.Pro1057Arg) c.3080C>G (p.Pro1027Arg) c.3056C>G (p.Pro1019Arg) c.3038C>G (p.Pro1013Arg) c.3110C>G (p.Pro1037Arg) c.2669C>G (p.Pro890Arg) c.2996C>G (p.Pro999Arg) c.3017C>G (p.Pro1006Arg) | |
| 4 | g.113330398C>T | CA357935214 | ANK2 | c.3194C>T (p.Pro1065Leu) c.3134C>T (p.Pro1045Leu) n.789C>T n.6415C>T n.3189C>T n.768C>T n.2165C>T n.1433C>T n.779C>T n.1197C>T n.147C>T c.3053C>T (p.Pro1018Leu) c.2990C>T (p.Pro997Leu) c.539C>T (p.Pro180Leu) c.2966C>T (p.Pro989Leu) c.3089C>T (p.Pro1030Leu) c.3026C>T (p.Pro1009Leu) c.2891C>T (p.Pro964Leu) c.2969C>T (p.Pro990Leu) c.2768C>T (p.Pro923Leu) c.2867C>T (p.Pro956Leu) c.3098C>T (p.Pro1033Leu) c.3002C>T (p.Pro1001Leu) c.2975C>T (p.Pro992Leu) c.2954C>T (p.Pro985Leu) c.2927C>T (p.Pro976Leu) c.716C>T (p.Pro239Leu) c.2570C>T (p.Pro857Leu) c.680C>T (p.Pro227Leu) c.2951C>T (p.Pro984Leu) c.2660C>T (p.Pro887Leu) c.2810C>T (p.Pro937Leu) c.189C>T c.3185C>T (p.Pro1062Leu) c.3149C>T (p.Pro1050Leu) c.3239C>T (p.Pro1080Leu) c.3203C>T (p.Pro1068Leu) c.3179C>T (p.Pro1060Leu) c.3125C>T (p.Pro1042Leu) c.3065C>T (p.Pro1022Leu) c.3131C>T (p.Pro1044Leu) c.3095C>T (p.Pro1032Leu) c.3050C>T (p.Pro1017Leu) c.3023C>T (p.Pro1008Leu) c.2987C>T (p.Pro996Leu) c.3011C>T (p.Pro1004Leu) c.2840C>T (p.Pro947Leu) c.2852C>T (p.Pro951Leu) c.3170C>T (p.Pro1057Leu) c.3080C>T (p.Pro1027Leu) c.3056C>T (p.Pro1019Leu) c.3038C>T (p.Pro1013Leu) c.3110C>T (p.Pro1037Leu) c.2669C>T (p.Pro890Leu) c.2996C>T (p.Pro999Leu) c.3017C>T (p.Pro1006Leu) | dbSNP |
| 4 | g.113330398_113330399insAG | CA2763133003 | ANK2 | c.3194_3195insAG (p.Pro1066ValfsTer13) c.3134_3135insAG (p.Pro1046ValfsTer13) n.789_790insAG n.6415_6416insAG n.3189_3190insAG n.768_769insAG n.2165_2166insAG n.1433_1434insAG n.779_780insAG n.1197_1198insAG n.147_148insAG c.3053_3054insAG (p.Pro1019ValfsTer13) c.2990_2991insAG (p.Pro998ValfsTer13) c.539_540insAG (p.Pro181ValfsTer13) c.2966_2967insAG (p.Pro990ValfsTer13) c.3089_3090insAG (p.Pro1031ValfsTer13) c.3026_3027insAG (p.Pro1010ValfsTer13) c.2891_2892insAG (p.Pro965ValfsTer13) c.2969_2970insAG (p.Pro991ValfsTer13) c.2768_2769insAG (p.Pro924ValfsTer13) c.2867_2868insAG (p.Pro957ValfsTer13) c.3098_3099insAG (p.Pro1034ValfsTer13) c.3002_3003insAG (p.Pro1002ValfsTer13) c.2975_2976insAG (p.Pro993ValfsTer13) c.2954_2955insAG (p.Pro986ValfsTer13) c.2927_2928insAG (p.Pro977ValfsTer13) c.716_717insAG (p.Pro240ValfsTer13) c.2570_2571insAG (p.Pro858ValfsTer13) c.680_681insAG (p.Pro228ValfsTer13) c.2951_2952insAG (p.Pro985ValfsTer13) c.2660_2661insAG (p.Pro888ValfsTer13) c.2810_2811insAG (p.Pro938ValfsTer13) c.189_190insAG c.3185_3186insAG (p.Pro1063ValfsTer13) c.3149_3150insAG (p.Pro1051ValfsTer13) c.3239_3240insAG (p.Pro1081ValfsTer13) c.3203_3204insAG (p.Pro1069ValfsTer13) c.3179_3180insAG (p.Pro1061ValfsTer13) c.3125_3126insAG (p.Pro1043ValfsTer13) c.3065_3066insAG (p.Pro1023ValfsTer13) c.3131_3132insAG (p.Pro1045ValfsTer13) c.3095_3096insAG (p.Pro1033ValfsTer13) c.3050_3051insAG (p.Pro1018ValfsTer13) c.3023_3024insAG (p.Pro1009ValfsTer13) c.2987_2988insAG (p.Pro997ValfsTer13) c.3011_3012insAG (p.Pro1005ValfsTer13) c.2840_2841insAG (p.Pro948ValfsTer13) c.2852_2853insAG (p.Pro952ValfsTer13) c.3170_3171insAG (p.Pro1058ValfsTer13) c.3080_3081insAG (p.Pro1028ValfsTer13) c.3056_3057insAG (p.Pro1020ValfsTer13) c.3038_3039insAG (p.Pro1014ValfsTer13) c.3110_3111insAG (p.Pro1038ValfsTer13) c.2669_2670insAG (p.Pro891ValfsTer13) c.2996_2997insAG (p.Pro1000ValfsTer13) c.3017_3018insAG (p.Pro1007ValfsTer13) | |
| 4 | g.113330399T>A | CA440842576 | ANK2 | c.3195T>A (p.Pro1065=) c.3135T>A (p.Pro1045=) n.790T>A n.6416T>A n.3190T>A n.769T>A n.2166T>A n.1434T>A n.780T>A n.1198T>A n.148T>A c.3054T>A (p.Pro1018=) c.2991T>A (p.Pro997=) c.540T>A (p.Pro180=) c.2967T>A (p.Pro989=) c.3090T>A (p.Pro1030=) c.3027T>A (p.Pro1009=) c.2892T>A (p.Pro964=) c.2970T>A (p.Pro990=) c.2769T>A (p.Pro923=) c.2868T>A (p.Pro956=) c.3099T>A (p.Pro1033=) c.3003T>A (p.Pro1001=) c.2976T>A (p.Pro992=) c.2955T>A (p.Pro985=) c.2928T>A (p.Pro976=) c.717T>A (p.Pro239=) c.2571T>A (p.Pro857=) c.681T>A (p.Pro227=) c.2952T>A (p.Pro984=) c.2661T>A (p.Pro887=) c.2811T>A (p.Pro937=) c.190T>A c.3186T>A (p.Pro1062=) c.3150T>A (p.Pro1050=) c.3240T>A (p.Pro1080=) c.3204T>A (p.Pro1068=) c.3180T>A (p.Pro1060=) c.3126T>A (p.Pro1042=) c.3066T>A (p.Pro1022=) c.3132T>A (p.Pro1044=) c.3096T>A (p.Pro1032=) c.3051T>A (p.Pro1017=) c.3024T>A (p.Pro1008=) c.2988T>A (p.Pro996=) c.3012T>A (p.Pro1004=) c.2841T>A (p.Pro947=) c.2853T>A (p.Pro951=) c.3171T>A (p.Pro1057=) c.3081T>A (p.Pro1027=) c.3057T>A (p.Pro1019=) c.3039T>A (p.Pro1013=) c.3111T>A (p.Pro1037=) c.2670T>A (p.Pro890=) c.2997T>A (p.Pro999=) c.3018T>A (p.Pro1006=) | dbSNP |
| 4 | g.113330399T>C | CA16605026 | ANK2 | c.3195T>C (p.Pro1065=) c.3135T>C (p.Pro1045=) n.790T>C n.6416T>C n.3190T>C n.769T>C n.2166T>C n.1434T>C n.780T>C n.1198T>C n.148T>C c.3054T>C (p.Pro1018=) c.2991T>C (p.Pro997=) c.540T>C (p.Pro180=) c.2967T>C (p.Pro989=) c.3090T>C (p.Pro1030=) c.3027T>C (p.Pro1009=) c.2892T>C (p.Pro964=) c.2970T>C (p.Pro990=) c.2769T>C (p.Pro923=) c.2868T>C (p.Pro956=) c.3099T>C (p.Pro1033=) c.3003T>C (p.Pro1001=) c.2976T>C (p.Pro992=) c.2955T>C (p.Pro985=) c.2928T>C (p.Pro976=) c.717T>C (p.Pro239=) c.2571T>C (p.Pro857=) c.681T>C (p.Pro227=) c.2952T>C (p.Pro984=) c.2661T>C (p.Pro887=) c.2811T>C (p.Pro937=) c.190T>C c.3186T>C (p.Pro1062=) c.3150T>C (p.Pro1050=) c.3240T>C (p.Pro1080=) c.3204T>C (p.Pro1068=) c.3180T>C (p.Pro1060=) c.3126T>C (p.Pro1042=) c.3066T>C (p.Pro1022=) c.3132T>C (p.Pro1044=) c.3096T>C (p.Pro1032=) c.3051T>C (p.Pro1017=) c.3024T>C (p.Pro1008=) c.2988T>C (p.Pro996=) c.3012T>C (p.Pro1004=) c.2841T>C (p.Pro947=) c.2853T>C (p.Pro951=) c.3171T>C (p.Pro1057=) c.3081T>C (p.Pro1027=) c.3057T>C (p.Pro1019=) c.3039T>C (p.Pro1013=) c.3111T>C (p.Pro1037=) c.2670T>C (p.Pro890=) c.2997T>C (p.Pro999=) c.3018T>C (p.Pro1006=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.113330399T>G | CA440842577 | ANK2 | c.3195T>G (p.Pro1065=) c.3135T>G (p.Pro1045=) n.790T>G n.6416T>G n.3190T>G n.769T>G n.2166T>G n.1434T>G n.780T>G n.1198T>G n.148T>G c.3054T>G (p.Pro1018=) c.2991T>G (p.Pro997=) c.540T>G (p.Pro180=) c.2967T>G (p.Pro989=) c.3090T>G (p.Pro1030=) c.3027T>G (p.Pro1009=) c.2892T>G (p.Pro964=) c.2970T>G (p.Pro990=) c.2769T>G (p.Pro923=) c.2868T>G (p.Pro956=) c.3099T>G (p.Pro1033=) c.3003T>G (p.Pro1001=) c.2976T>G (p.Pro992=) c.2955T>G (p.Pro985=) c.2928T>G (p.Pro976=) c.717T>G (p.Pro239=) c.2571T>G (p.Pro857=) c.681T>G (p.Pro227=) c.2952T>G (p.Pro984=) c.2661T>G (p.Pro887=) c.2811T>G (p.Pro937=) c.190T>G c.3186T>G (p.Pro1062=) c.3150T>G (p.Pro1050=) c.3240T>G (p.Pro1080=) c.3204T>G (p.Pro1068=) c.3180T>G (p.Pro1060=) c.3126T>G (p.Pro1042=) c.3066T>G (p.Pro1022=) c.3132T>G (p.Pro1044=) c.3096T>G (p.Pro1032=) c.3051T>G (p.Pro1017=) c.3024T>G (p.Pro1008=) c.2988T>G (p.Pro996=) c.3012T>G (p.Pro1004=) c.2841T>G (p.Pro947=) c.2853T>G (p.Pro951=) c.3171T>G (p.Pro1057=) c.3081T>G (p.Pro1027=) c.3057T>G (p.Pro1019=) c.3039T>G (p.Pro1013=) c.3111T>G (p.Pro1037=) c.2670T>G (p.Pro890=) c.2997T>G (p.Pro999=) c.3018T>G (p.Pro1006=) | |
| 4 | g.113330400C>A | CA357935217 | ANK2 | c.3196C>A (p.Pro1066Thr) c.3136C>A (p.Pro1046Thr) n.791C>A n.6417C>A n.3191C>A n.770C>A n.2167C>A n.1435C>A n.781C>A n.1199C>A n.149C>A c.3055C>A (p.Pro1019Thr) c.2992C>A (p.Pro998Thr) c.541C>A (p.Pro181Thr) c.2968C>A (p.Pro990Thr) c.3091C>A (p.Pro1031Thr) c.3028C>A (p.Pro1010Thr) c.2893C>A (p.Pro965Thr) c.2971C>A (p.Pro991Thr) c.2770C>A (p.Pro924Thr) c.2869C>A (p.Pro957Thr) c.3100C>A (p.Pro1034Thr) c.3004C>A (p.Pro1002Thr) c.2977C>A (p.Pro993Thr) c.2956C>A (p.Pro986Thr) c.2929C>A (p.Pro977Thr) c.718C>A (p.Pro240Thr) c.2572C>A (p.Pro858Thr) c.682C>A (p.Pro228Thr) c.2953C>A (p.Pro985Thr) c.2662C>A (p.Pro888Thr) c.2812C>A (p.Pro938Thr) c.191C>A c.3187C>A (p.Pro1063Thr) c.3151C>A (p.Pro1051Thr) c.3241C>A (p.Pro1081Thr) c.3205C>A (p.Pro1069Thr) c.3181C>A (p.Pro1061Thr) c.3127C>A (p.Pro1043Thr) c.3067C>A (p.Pro1023Thr) c.3133C>A (p.Pro1045Thr) c.3097C>A (p.Pro1033Thr) c.3052C>A (p.Pro1018Thr) c.3025C>A (p.Pro1009Thr) c.2989C>A (p.Pro997Thr) c.3013C>A (p.Pro1005Thr) c.2842C>A (p.Pro948Thr) c.2854C>A (p.Pro952Thr) c.3172C>A (p.Pro1058Thr) c.3082C>A (p.Pro1028Thr) c.3058C>A (p.Pro1020Thr) c.3040C>A (p.Pro1014Thr) c.3112C>A (p.Pro1038Thr) c.2671C>A (p.Pro891Thr) c.2998C>A (p.Pro1000Thr) c.3019C>A (p.Pro1007Thr) | dbSNP |
| 4 | g.113330400C>G | CA357935215 | ANK2 | c.3196C>G (p.Pro1066Ala) c.3136C>G (p.Pro1046Ala) n.791C>G n.6417C>G n.3191C>G n.770C>G n.2167C>G n.1435C>G n.781C>G n.1199C>G n.149C>G c.3055C>G (p.Pro1019Ala) c.2992C>G (p.Pro998Ala) c.541C>G (p.Pro181Ala) c.2968C>G (p.Pro990Ala) c.3091C>G (p.Pro1031Ala) c.3028C>G (p.Pro1010Ala) c.2893C>G (p.Pro965Ala) c.2971C>G (p.Pro991Ala) c.2770C>G (p.Pro924Ala) c.2869C>G (p.Pro957Ala) c.3100C>G (p.Pro1034Ala) c.3004C>G (p.Pro1002Ala) c.2977C>G (p.Pro993Ala) c.2956C>G (p.Pro986Ala) c.2929C>G (p.Pro977Ala) c.718C>G (p.Pro240Ala) c.2572C>G (p.Pro858Ala) c.682C>G (p.Pro228Ala) c.2953C>G (p.Pro985Ala) c.2662C>G (p.Pro888Ala) c.2812C>G (p.Pro938Ala) c.191C>G c.3187C>G (p.Pro1063Ala) c.3151C>G (p.Pro1051Ala) c.3241C>G (p.Pro1081Ala) c.3205C>G (p.Pro1069Ala) c.3181C>G (p.Pro1061Ala) c.3127C>G (p.Pro1043Ala) c.3067C>G (p.Pro1023Ala) c.3133C>G (p.Pro1045Ala) c.3097C>G (p.Pro1033Ala) c.3052C>G (p.Pro1018Ala) c.3025C>G (p.Pro1009Ala) c.2989C>G (p.Pro997Ala) c.3013C>G (p.Pro1005Ala) c.2842C>G (p.Pro948Ala) c.2854C>G (p.Pro952Ala) c.3172C>G (p.Pro1058Ala) c.3082C>G (p.Pro1028Ala) c.3058C>G (p.Pro1020Ala) c.3040C>G (p.Pro1014Ala) c.3112C>G (p.Pro1038Ala) c.2671C>G (p.Pro891Ala) c.2998C>G (p.Pro1000Ala) c.3019C>G (p.Pro1007Ala) | dbSNP |
| 4 | g.113330400C>T | CA357935216 | ANK2 | c.3196C>T (p.Pro1066Ser) c.3136C>T (p.Pro1046Ser) n.791C>T n.6417C>T n.3191C>T n.770C>T n.2167C>T n.1435C>T n.781C>T n.1199C>T n.149C>T c.3055C>T (p.Pro1019Ser) c.2992C>T (p.Pro998Ser) c.541C>T (p.Pro181Ser) c.2968C>T (p.Pro990Ser) c.3091C>T (p.Pro1031Ser) c.3028C>T (p.Pro1010Ser) c.2893C>T (p.Pro965Ser) c.2971C>T (p.Pro991Ser) c.2770C>T (p.Pro924Ser) c.2869C>T (p.Pro957Ser) c.3100C>T (p.Pro1034Ser) c.3004C>T (p.Pro1002Ser) c.2977C>T (p.Pro993Ser) c.2956C>T (p.Pro986Ser) c.2929C>T (p.Pro977Ser) c.718C>T (p.Pro240Ser) c.2572C>T (p.Pro858Ser) c.682C>T (p.Pro228Ser) c.2953C>T (p.Pro985Ser) c.2662C>T (p.Pro888Ser) c.2812C>T (p.Pro938Ser) c.191C>T c.3187C>T (p.Pro1063Ser) c.3151C>T (p.Pro1051Ser) c.3241C>T (p.Pro1081Ser) c.3205C>T (p.Pro1069Ser) c.3181C>T (p.Pro1061Ser) c.3127C>T (p.Pro1043Ser) c.3067C>T (p.Pro1023Ser) c.3133C>T (p.Pro1045Ser) c.3097C>T (p.Pro1033Ser) c.3052C>T (p.Pro1018Ser) c.3025C>T (p.Pro1009Ser) c.2989C>T (p.Pro997Ser) c.3013C>T (p.Pro1005Ser) c.2842C>T (p.Pro948Ser) c.2854C>T (p.Pro952Ser) c.3172C>T (p.Pro1058Ser) c.3082C>T (p.Pro1028Ser) c.3058C>T (p.Pro1020Ser) c.3040C>T (p.Pro1014Ser) c.3112C>T (p.Pro1038Ser) c.2671C>T (p.Pro891Ser) c.2998C>T (p.Pro1000Ser) c.3019C>T (p.Pro1007Ser) | dbSNP |
| 4 | g.113330401C>A | CA357935218 | ANK2 | c.3197C>A (p.Pro1066Gln) c.3137C>A (p.Pro1046Gln) n.792C>A n.6418C>A n.3192C>A n.771C>A n.2168C>A n.1436C>A n.782C>A n.1200C>A n.150C>A c.3056C>A (p.Pro1019Gln) c.2993C>A (p.Pro998Gln) c.542C>A (p.Pro181Gln) c.2969C>A (p.Pro990Gln) c.3092C>A (p.Pro1031Gln) c.3029C>A (p.Pro1010Gln) c.2894C>A (p.Pro965Gln) c.2972C>A (p.Pro991Gln) c.2771C>A (p.Pro924Gln) c.2870C>A (p.Pro957Gln) c.3101C>A (p.Pro1034Gln) c.3005C>A (p.Pro1002Gln) c.2978C>A (p.Pro993Gln) c.2957C>A (p.Pro986Gln) c.2930C>A (p.Pro977Gln) c.719C>A (p.Pro240Gln) c.2573C>A (p.Pro858Gln) c.683C>A (p.Pro228Gln) c.2954C>A (p.Pro985Gln) c.2663C>A (p.Pro888Gln) c.2813C>A (p.Pro938Gln) c.192C>A c.3188C>A (p.Pro1063Gln) c.3152C>A (p.Pro1051Gln) c.3242C>A (p.Pro1081Gln) c.3206C>A (p.Pro1069Gln) c.3182C>A (p.Pro1061Gln) c.3128C>A (p.Pro1043Gln) c.3068C>A (p.Pro1023Gln) c.3134C>A (p.Pro1045Gln) c.3098C>A (p.Pro1033Gln) c.3053C>A (p.Pro1018Gln) c.3026C>A (p.Pro1009Gln) c.2990C>A (p.Pro997Gln) c.3014C>A (p.Pro1005Gln) c.2843C>A (p.Pro948Gln) c.2855C>A (p.Pro952Gln) c.3173C>A (p.Pro1058Gln) c.3083C>A (p.Pro1028Gln) c.3059C>A (p.Pro1020Gln) c.3041C>A (p.Pro1014Gln) c.3113C>A (p.Pro1038Gln) c.2672C>A (p.Pro891Gln) c.2999C>A (p.Pro1000Gln) c.3020C>A (p.Pro1007Gln) | dbSNP |
| 4 | g.113330401C>G | CA357935219 | ANK2 | c.3197C>G (p.Pro1066Arg) c.3137C>G (p.Pro1046Arg) n.792C>G n.6418C>G n.3192C>G n.771C>G n.2168C>G n.1436C>G n.782C>G n.1200C>G n.150C>G c.3056C>G (p.Pro1019Arg) c.2993C>G (p.Pro998Arg) c.542C>G (p.Pro181Arg) c.2969C>G (p.Pro990Arg) c.3092C>G (p.Pro1031Arg) c.3029C>G (p.Pro1010Arg) c.2894C>G (p.Pro965Arg) c.2972C>G (p.Pro991Arg) c.2771C>G (p.Pro924Arg) c.2870C>G (p.Pro957Arg) c.3101C>G (p.Pro1034Arg) c.3005C>G (p.Pro1002Arg) c.2978C>G (p.Pro993Arg) c.2957C>G (p.Pro986Arg) c.2930C>G (p.Pro977Arg) c.719C>G (p.Pro240Arg) c.2573C>G (p.Pro858Arg) c.683C>G (p.Pro228Arg) c.2954C>G (p.Pro985Arg) c.2663C>G (p.Pro888Arg) c.2813C>G (p.Pro938Arg) c.192C>G c.3188C>G (p.Pro1063Arg) c.3152C>G (p.Pro1051Arg) c.3242C>G (p.Pro1081Arg) c.3206C>G (p.Pro1069Arg) c.3182C>G (p.Pro1061Arg) c.3128C>G (p.Pro1043Arg) c.3068C>G (p.Pro1023Arg) c.3134C>G (p.Pro1045Arg) c.3098C>G (p.Pro1033Arg) c.3053C>G (p.Pro1018Arg) c.3026C>G (p.Pro1009Arg) c.2990C>G (p.Pro997Arg) c.3014C>G (p.Pro1005Arg) c.2843C>G (p.Pro948Arg) c.2855C>G (p.Pro952Arg) c.3173C>G (p.Pro1058Arg) c.3083C>G (p.Pro1028Arg) c.3059C>G (p.Pro1020Arg) c.3041C>G (p.Pro1014Arg) c.3113C>G (p.Pro1038Arg) c.2672C>G (p.Pro891Arg) c.2999C>G (p.Pro1000Arg) c.3020C>G (p.Pro1007Arg) | dbSNP |
| 4 | g.113330401C>T | CA357935220 | ANK2 | c.3197C>T (p.Pro1066Leu) c.3137C>T (p.Pro1046Leu) n.792C>T n.6418C>T n.3192C>T n.771C>T n.2168C>T n.1436C>T n.782C>T n.1200C>T n.150C>T c.3056C>T (p.Pro1019Leu) c.2993C>T (p.Pro998Leu) c.542C>T (p.Pro181Leu) c.2969C>T (p.Pro990Leu) c.3092C>T (p.Pro1031Leu) c.3029C>T (p.Pro1010Leu) c.2894C>T (p.Pro965Leu) c.2972C>T (p.Pro991Leu) c.2771C>T (p.Pro924Leu) c.2870C>T (p.Pro957Leu) c.3101C>T (p.Pro1034Leu) c.3005C>T (p.Pro1002Leu) c.2978C>T (p.Pro993Leu) c.2957C>T (p.Pro986Leu) c.2930C>T (p.Pro977Leu) c.719C>T (p.Pro240Leu) c.2573C>T (p.Pro858Leu) c.683C>T (p.Pro228Leu) c.2954C>T (p.Pro985Leu) c.2663C>T (p.Pro888Leu) c.2813C>T (p.Pro938Leu) c.192C>T c.3188C>T (p.Pro1063Leu) c.3152C>T (p.Pro1051Leu) c.3242C>T (p.Pro1081Leu) c.3206C>T (p.Pro1069Leu) c.3182C>T (p.Pro1061Leu) c.3128C>T (p.Pro1043Leu) c.3068C>T (p.Pro1023Leu) c.3134C>T (p.Pro1045Leu) c.3098C>T (p.Pro1033Leu) c.3053C>T (p.Pro1018Leu) c.3026C>T (p.Pro1009Leu) c.2990C>T (p.Pro997Leu) c.3014C>T (p.Pro1005Leu) c.2843C>T (p.Pro948Leu) c.2855C>T (p.Pro952Leu) c.3173C>T (p.Pro1058Leu) c.3083C>T (p.Pro1028Leu) c.3059C>T (p.Pro1020Leu) c.3041C>T (p.Pro1014Leu) c.3113C>T (p.Pro1038Leu) c.2672C>T (p.Pro891Leu) c.2999C>T (p.Pro1000Leu) c.3020C>T (p.Pro1007Leu) | dbSNP |
| 4 | g.113330401_113330403del | CA2763133004 | ANK2 | c.3197_3199del (p.Pro1066_Met1067delinsLeu) c.3137_3139del (p.Pro1046_Met1047delinsLeu) n.792_794del n.6418_6420del n.3192_3194del n.771_773del n.2168_2170del n.1436_1438del n.782_784del n.1200_1202del n.150_152del c.3056_3058del (p.Pro1019_Met1020delinsLeu) c.2993_2995del (p.Pro998_Met999delinsLeu) c.542_544del (p.Pro181_Met182delinsLeu) c.2969_2971del (p.Pro990_Met991delinsLeu) c.3092_3094del (p.Pro1031_Met1032delinsLeu) c.3029_3031del (p.Pro1010_Met1011delinsLeu) c.2894_2896del (p.Pro965_Met966delinsLeu) c.2972_2974del (p.Pro991_Met992delinsLeu) c.2771_2773del (p.Pro924_Met925delinsLeu) c.2870_2872del (p.Pro957_Met958delinsLeu) c.3101_3103del (p.Pro1034_Met1035delinsLeu) c.3005_3007del (p.Pro1002_Met1003delinsLeu) c.2978_2980del (p.Pro993_Met994delinsLeu) c.2957_2959del (p.Pro986_Met987delinsLeu) c.2930_2932del (p.Pro977_Met978delinsLeu) c.719_721del (p.Pro240_Met241delinsLeu) c.2573_2575del (p.Pro858_Met859delinsLeu) c.683_685del (p.Pro228_Met229delinsLeu) c.2954_2956del (p.Pro985_Met986delinsLeu) c.2663_2665del (p.Pro888_Met889delinsLeu) c.2813_2815del (p.Pro938_Met939delinsLeu) c.192_194del c.3188_3190del (p.Pro1063_Met1064delinsLeu) c.3152_3154del (p.Pro1051_Met1052delinsLeu) c.3242_3244del (p.Pro1081_Met1082delinsLeu) c.3206_3208del (p.Pro1069_Met1070delinsLeu) c.3182_3184del (p.Pro1061_Met1062delinsLeu) c.3128_3130del (p.Pro1043_Met1044delinsLeu) c.3068_3070del (p.Pro1023_Met1024delinsLeu) c.3134_3136del (p.Pro1045_Met1046delinsLeu) c.3098_3100del (p.Pro1033_Met1034delinsLeu) c.3053_3055del (p.Pro1018_Met1019delinsLeu) c.3026_3028del (p.Pro1009_Met1010delinsLeu) c.2990_2992del (p.Pro997_Met998delinsLeu) c.3014_3016del (p.Pro1005_Met1006delinsLeu) c.2843_2845del (p.Pro948_Met949delinsLeu) c.2855_2857del (p.Pro952_Met953delinsLeu) c.3173_3175del (p.Pro1058_Met1059delinsLeu) c.3083_3085del (p.Pro1028_Met1029delinsLeu) c.3059_3061del (p.Pro1020_Met1021delinsLeu) c.3041_3043del (p.Pro1014_Met1015delinsLeu) c.3113_3115del (p.Pro1038_Met1039delinsLeu) c.2672_2674del (p.Pro891_Met892delinsLeu) c.2999_3001del (p.Pro1000_Met1001delinsLeu) c.3020_3022del (p.Pro1007_Met1008delinsLeu) | |
| 4 | g.113330402A>C | CA440842578 | ANK2 | c.3198A>C (p.Pro1066=) c.3138A>C (p.Pro1046=) n.793A>C n.6419A>C n.3193A>C n.772A>C n.2169A>C n.1437A>C n.783A>C n.1201A>C n.151A>C c.3057A>C (p.Pro1019=) c.2994A>C (p.Pro998=) c.543A>C (p.Pro181=) c.2970A>C (p.Pro990=) c.3093A>C (p.Pro1031=) c.3030A>C (p.Pro1010=) c.2895A>C (p.Pro965=) c.2973A>C (p.Pro991=) c.2772A>C (p.Pro924=) c.2871A>C (p.Pro957=) c.3102A>C (p.Pro1034=) c.3006A>C (p.Pro1002=) c.2979A>C (p.Pro993=) c.2958A>C (p.Pro986=) c.2931A>C (p.Pro977=) c.720A>C (p.Pro240=) c.2574A>C (p.Pro858=) c.684A>C (p.Pro228=) c.2955A>C (p.Pro985=) c.2664A>C (p.Pro888=) c.2814A>C (p.Pro938=) c.193A>C c.3189A>C (p.Pro1063=) c.3153A>C (p.Pro1051=) c.3243A>C (p.Pro1081=) c.3207A>C (p.Pro1069=) c.3183A>C (p.Pro1061=) c.3129A>C (p.Pro1043=) c.3069A>C (p.Pro1023=) c.3135A>C (p.Pro1045=) c.3099A>C (p.Pro1033=) c.3054A>C (p.Pro1018=) c.3027A>C (p.Pro1009=) c.2991A>C (p.Pro997=) c.3015A>C (p.Pro1005=) c.2844A>C (p.Pro948=) c.2856A>C (p.Pro952=) c.3174A>C (p.Pro1058=) c.3084A>C (p.Pro1028=) c.3060A>C (p.Pro1020=) c.3042A>C (p.Pro1014=) c.3114A>C (p.Pro1038=) c.2673A>C (p.Pro891=) c.3000A>C (p.Pro1000=) c.3021A>C (p.Pro1007=) | |
| 4 | g.113330402A>G | CA440842579 | ANK2 | c.3198A>G (p.Pro1066=) c.3138A>G (p.Pro1046=) n.793A>G n.6419A>G n.3193A>G n.772A>G n.2169A>G n.1437A>G n.783A>G n.1201A>G n.151A>G c.3057A>G (p.Pro1019=) c.2994A>G (p.Pro998=) c.543A>G (p.Pro181=) c.2970A>G (p.Pro990=) c.3093A>G (p.Pro1031=) c.3030A>G (p.Pro1010=) c.2895A>G (p.Pro965=) c.2973A>G (p.Pro991=) c.2772A>G (p.Pro924=) c.2871A>G (p.Pro957=) c.3102A>G (p.Pro1034=) c.3006A>G (p.Pro1002=) c.2979A>G (p.Pro993=) c.2958A>G (p.Pro986=) c.2931A>G (p.Pro977=) c.720A>G (p.Pro240=) c.2574A>G (p.Pro858=) c.684A>G (p.Pro228=) c.2955A>G (p.Pro985=) c.2664A>G (p.Pro888=) c.2814A>G (p.Pro938=) c.193A>G c.3189A>G (p.Pro1063=) c.3153A>G (p.Pro1051=) c.3243A>G (p.Pro1081=) c.3207A>G (p.Pro1069=) c.3183A>G (p.Pro1061=) c.3129A>G (p.Pro1043=) c.3069A>G (p.Pro1023=) c.3135A>G (p.Pro1045=) c.3099A>G (p.Pro1033=) c.3054A>G (p.Pro1018=) c.3027A>G (p.Pro1009=) c.2991A>G (p.Pro997=) c.3015A>G (p.Pro1005=) c.2844A>G (p.Pro948=) c.2856A>G (p.Pro952=) c.3174A>G (p.Pro1058=) c.3084A>G (p.Pro1028=) c.3060A>G (p.Pro1020=) c.3042A>G (p.Pro1014=) c.3114A>G (p.Pro1038=) c.2673A>G (p.Pro891=) c.3000A>G (p.Pro1000=) c.3021A>G (p.Pro1007=) | ClinVar dbSNP |
| 4 | g.113330402A>T | CA440842580 | ANK2 | c.3198A>T (p.Pro1066=) c.3138A>T (p.Pro1046=) n.793A>T n.6419A>T n.3193A>T n.772A>T n.2169A>T n.1437A>T n.783A>T n.1201A>T n.151A>T c.3057A>T (p.Pro1019=) c.2994A>T (p.Pro998=) c.543A>T (p.Pro181=) c.2970A>T (p.Pro990=) c.3093A>T (p.Pro1031=) c.3030A>T (p.Pro1010=) c.2895A>T (p.Pro965=) c.2973A>T (p.Pro991=) c.2772A>T (p.Pro924=) c.2871A>T (p.Pro957=) c.3102A>T (p.Pro1034=) c.3006A>T (p.Pro1002=) c.2979A>T (p.Pro993=) c.2958A>T (p.Pro986=) c.2931A>T (p.Pro977=) c.720A>T (p.Pro240=) c.2574A>T (p.Pro858=) c.684A>T (p.Pro228=) c.2955A>T (p.Pro985=) c.2664A>T (p.Pro888=) c.2814A>T (p.Pro938=) c.193A>T c.3189A>T (p.Pro1063=) c.3153A>T (p.Pro1051=) c.3243A>T (p.Pro1081=) c.3207A>T (p.Pro1069=) c.3183A>T (p.Pro1061=) c.3129A>T (p.Pro1043=) c.3069A>T (p.Pro1023=) c.3135A>T (p.Pro1045=) c.3099A>T (p.Pro1033=) c.3054A>T (p.Pro1018=) c.3027A>T (p.Pro1009=) c.2991A>T (p.Pro997=) c.3015A>T (p.Pro1005=) c.2844A>T (p.Pro948=) c.2856A>T (p.Pro952=) c.3174A>T (p.Pro1058=) c.3084A>T (p.Pro1028=) c.3060A>T (p.Pro1020=) c.3042A>T (p.Pro1014=) c.3114A>T (p.Pro1038=) c.2673A>T (p.Pro891=) c.3000A>T (p.Pro1000=) c.3021A>T (p.Pro1007=) | dbSNP |
| 4 | g.113330403A>C | CA357935221 | ANK2 | c.3199A>C (p.Met1067Leu) c.3139A>C (p.Met1047Leu) n.794A>C n.6420A>C n.3194A>C n.773A>C n.2170A>C n.1438A>C n.784A>C n.1202A>C n.152A>C c.3058A>C (p.Met1020Leu) c.2995A>C (p.Met999Leu) c.544A>C (p.Met182Leu) c.2971A>C (p.Met991Leu) c.3094A>C (p.Met1032Leu) c.3031A>C (p.Met1011Leu) c.2896A>C (p.Met966Leu) c.2974A>C (p.Met992Leu) c.2773A>C (p.Met925Leu) c.2872A>C (p.Met958Leu) c.3103A>C (p.Met1035Leu) c.3007A>C (p.Met1003Leu) c.2980A>C (p.Met994Leu) c.2959A>C (p.Met987Leu) c.2932A>C (p.Met978Leu) c.721A>C (p.Met241Leu) c.2575A>C (p.Met859Leu) c.685A>C (p.Met229Leu) c.2956A>C (p.Met986Leu) c.2665A>C (p.Met889Leu) c.2815A>C (p.Met939Leu) c.194A>C c.3190A>C (p.Met1064Leu) c.3154A>C (p.Met1052Leu) c.3244A>C (p.Met1082Leu) c.3208A>C (p.Met1070Leu) c.3184A>C (p.Met1062Leu) c.3130A>C (p.Met1044Leu) c.3070A>C (p.Met1024Leu) c.3136A>C (p.Met1046Leu) c.3100A>C (p.Met1034Leu) c.3055A>C (p.Met1019Leu) c.3028A>C (p.Met1010Leu) c.2992A>C (p.Met998Leu) c.3016A>C (p.Met1006Leu) c.2845A>C (p.Met949Leu) c.2857A>C (p.Met953Leu) c.3175A>C (p.Met1059Leu) c.3085A>C (p.Met1029Leu) c.3061A>C (p.Met1021Leu) c.3043A>C (p.Met1015Leu) c.3115A>C (p.Met1039Leu) c.2674A>C (p.Met892Leu) c.3001A>C (p.Met1001Leu) c.3022A>C (p.Met1008Leu) | |
| 4 | g.113330403A>G | CA3050761 | ANK2 | c.3199A>G (p.Met1067Val) c.3139A>G (p.Met1047Val) n.794A>G n.6420A>G n.3194A>G n.773A>G n.2170A>G n.1438A>G n.784A>G n.1202A>G n.152A>G c.3058A>G (p.Met1020Val) c.2995A>G (p.Met999Val) c.544A>G (p.Met182Val) c.2971A>G (p.Met991Val) c.3094A>G (p.Met1032Val) c.3031A>G (p.Met1011Val) c.2896A>G (p.Met966Val) c.2974A>G (p.Met992Val) c.2773A>G (p.Met925Val) c.2872A>G (p.Met958Val) c.3103A>G (p.Met1035Val) c.3007A>G (p.Met1003Val) c.2980A>G (p.Met994Val) c.2959A>G (p.Met987Val) c.2932A>G (p.Met978Val) c.721A>G (p.Met241Val) c.2575A>G (p.Met859Val) c.685A>G (p.Met229Val) c.2956A>G (p.Met986Val) c.2665A>G (p.Met889Val) c.2815A>G (p.Met939Val) c.194A>G c.3190A>G (p.Met1064Val) c.3154A>G (p.Met1052Val) c.3244A>G (p.Met1082Val) c.3208A>G (p.Met1070Val) c.3184A>G (p.Met1062Val) c.3130A>G (p.Met1044Val) c.3070A>G (p.Met1024Val) c.3136A>G (p.Met1046Val) c.3100A>G (p.Met1034Val) c.3055A>G (p.Met1019Val) c.3028A>G (p.Met1010Val) c.2992A>G (p.Met998Val) c.3016A>G (p.Met1006Val) c.2845A>G (p.Met949Val) c.2857A>G (p.Met953Val) c.3175A>G (p.Met1059Val) c.3085A>G (p.Met1029Val) c.3061A>G (p.Met1021Val) c.3043A>G (p.Met1015Val) c.3115A>G (p.Met1039Val) c.2674A>G (p.Met892Val) c.3001A>G (p.Met1001Val) c.3022A>G (p.Met1008Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.113330403A>T | CA357935222 | ANK2 | c.3199A>T (p.Met1067Leu) c.3139A>T (p.Met1047Leu) n.794A>T n.6420A>T n.3194A>T n.773A>T n.2170A>T n.1438A>T n.784A>T n.1202A>T n.152A>T c.3058A>T (p.Met1020Leu) c.2995A>T (p.Met999Leu) c.544A>T (p.Met182Leu) c.2971A>T (p.Met991Leu) c.3094A>T (p.Met1032Leu) c.3031A>T (p.Met1011Leu) c.2896A>T (p.Met966Leu) c.2974A>T (p.Met992Leu) c.2773A>T (p.Met925Leu) c.2872A>T (p.Met958Leu) c.3103A>T (p.Met1035Leu) c.3007A>T (p.Met1003Leu) c.2980A>T (p.Met994Leu) c.2959A>T (p.Met987Leu) c.2932A>T (p.Met978Leu) c.721A>T (p.Met241Leu) c.2575A>T (p.Met859Leu) c.685A>T (p.Met229Leu) c.2956A>T (p.Met986Leu) c.2665A>T (p.Met889Leu) c.2815A>T (p.Met939Leu) c.194A>T c.3190A>T (p.Met1064Leu) c.3154A>T (p.Met1052Leu) c.3244A>T (p.Met1082Leu) c.3208A>T (p.Met1070Leu) c.3184A>T (p.Met1062Leu) c.3130A>T (p.Met1044Leu) c.3070A>T (p.Met1024Leu) c.3136A>T (p.Met1046Leu) c.3100A>T (p.Met1034Leu) c.3055A>T (p.Met1019Leu) c.3028A>T (p.Met1010Leu) c.2992A>T (p.Met998Leu) c.3016A>T (p.Met1006Leu) c.2845A>T (p.Met949Leu) c.2857A>T (p.Met953Leu) c.3175A>T (p.Met1059Leu) c.3085A>T (p.Met1029Leu) c.3061A>T (p.Met1021Leu) c.3043A>T (p.Met1015Leu) c.3115A>T (p.Met1039Leu) c.2674A>T (p.Met892Leu) c.3001A>T (p.Met1001Leu) c.3022A>T (p.Met1008Leu) | |
| 4 | g.113330404T>A | CA357935223 | ANK2 | c.3200T>A (p.Met1067Lys) c.3140T>A (p.Met1047Lys) n.795T>A n.6421T>A n.3195T>A n.774T>A n.2171T>A n.1439T>A n.785T>A n.1203T>A n.153T>A c.3059T>A (p.Met1020Lys) c.2996T>A (p.Met999Lys) c.545T>A (p.Met182Lys) c.2972T>A (p.Met991Lys) c.3095T>A (p.Met1032Lys) c.3032T>A (p.Met1011Lys) c.2897T>A (p.Met966Lys) c.2975T>A (p.Met992Lys) c.2774T>A (p.Met925Lys) c.2873T>A (p.Met958Lys) c.3104T>A (p.Met1035Lys) c.3008T>A (p.Met1003Lys) c.2981T>A (p.Met994Lys) c.2960T>A (p.Met987Lys) c.2933T>A (p.Met978Lys) c.722T>A (p.Met241Lys) c.2576T>A (p.Met859Lys) c.686T>A (p.Met229Lys) c.2957T>A (p.Met986Lys) c.2666T>A (p.Met889Lys) c.2816T>A (p.Met939Lys) c.195T>A c.3191T>A (p.Met1064Lys) c.3155T>A (p.Met1052Lys) c.3245T>A (p.Met1082Lys) c.3209T>A (p.Met1070Lys) c.3185T>A (p.Met1062Lys) c.3131T>A (p.Met1044Lys) c.3071T>A (p.Met1024Lys) c.3137T>A (p.Met1046Lys) c.3101T>A (p.Met1034Lys) c.3056T>A (p.Met1019Lys) c.3029T>A (p.Met1010Lys) c.2993T>A (p.Met998Lys) c.3017T>A (p.Met1006Lys) c.2846T>A (p.Met949Lys) c.2858T>A (p.Met953Lys) c.3176T>A (p.Met1059Lys) c.3086T>A (p.Met1029Lys) c.3062T>A (p.Met1021Lys) c.3044T>A (p.Met1015Lys) c.3116T>A (p.Met1039Lys) c.2675T>A (p.Met892Lys) c.3002T>A (p.Met1001Lys) c.3023T>A (p.Met1008Lys) | dbSNP |
| 4 | g.113330404T>C | CA357935224 | ANK2 | c.3200T>C (p.Met1067Thr) c.3140T>C (p.Met1047Thr) n.795T>C n.6421T>C n.3195T>C n.774T>C n.2171T>C n.1439T>C n.785T>C n.1203T>C n.153T>C c.3059T>C (p.Met1020Thr) c.2996T>C (p.Met999Thr) c.545T>C (p.Met182Thr) c.2972T>C (p.Met991Thr) c.3095T>C (p.Met1032Thr) c.3032T>C (p.Met1011Thr) c.2897T>C (p.Met966Thr) c.2975T>C (p.Met992Thr) c.2774T>C (p.Met925Thr) c.2873T>C (p.Met958Thr) c.3104T>C (p.Met1035Thr) c.3008T>C (p.Met1003Thr) c.2981T>C (p.Met994Thr) c.2960T>C (p.Met987Thr) c.2933T>C (p.Met978Thr) c.722T>C (p.Met241Thr) c.2576T>C (p.Met859Thr) c.686T>C (p.Met229Thr) c.2957T>C (p.Met986Thr) c.2666T>C (p.Met889Thr) c.2816T>C (p.Met939Thr) c.195T>C c.3191T>C (p.Met1064Thr) c.3155T>C (p.Met1052Thr) c.3245T>C (p.Met1082Thr) c.3209T>C (p.Met1070Thr) c.3185T>C (p.Met1062Thr) c.3131T>C (p.Met1044Thr) c.3071T>C (p.Met1024Thr) c.3137T>C (p.Met1046Thr) c.3101T>C (p.Met1034Thr) c.3056T>C (p.Met1019Thr) c.3029T>C (p.Met1010Thr) c.2993T>C (p.Met998Thr) c.3017T>C (p.Met1006Thr) c.2846T>C (p.Met949Thr) c.2858T>C (p.Met953Thr) c.3176T>C (p.Met1059Thr) c.3086T>C (p.Met1029Thr) c.3062T>C (p.Met1021Thr) c.3044T>C (p.Met1015Thr) c.3116T>C (p.Met1039Thr) c.2675T>C (p.Met892Thr) c.3002T>C (p.Met1001Thr) c.3023T>C (p.Met1008Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.113330404T>G | CA357935225 | ANK2 | c.3200T>G (p.Met1067Arg) c.3140T>G (p.Met1047Arg) n.795T>G n.6421T>G n.3195T>G n.774T>G n.2171T>G n.1439T>G n.785T>G n.1203T>G n.153T>G c.3059T>G (p.Met1020Arg) c.2996T>G (p.Met999Arg) c.545T>G (p.Met182Arg) c.2972T>G (p.Met991Arg) c.3095T>G (p.Met1032Arg) c.3032T>G (p.Met1011Arg) c.2897T>G (p.Met966Arg) c.2975T>G (p.Met992Arg) c.2774T>G (p.Met925Arg) c.2873T>G (p.Met958Arg) c.3104T>G (p.Met1035Arg) c.3008T>G (p.Met1003Arg) c.2981T>G (p.Met994Arg) c.2960T>G (p.Met987Arg) c.2933T>G (p.Met978Arg) c.722T>G (p.Met241Arg) c.2576T>G (p.Met859Arg) c.686T>G (p.Met229Arg) c.2957T>G (p.Met986Arg) c.2666T>G (p.Met889Arg) c.2816T>G (p.Met939Arg) c.195T>G c.3191T>G (p.Met1064Arg) c.3155T>G (p.Met1052Arg) c.3245T>G (p.Met1082Arg) c.3209T>G (p.Met1070Arg) c.3185T>G (p.Met1062Arg) c.3131T>G (p.Met1044Arg) c.3071T>G (p.Met1024Arg) c.3137T>G (p.Met1046Arg) c.3101T>G (p.Met1034Arg) c.3056T>G (p.Met1019Arg) c.3029T>G (p.Met1010Arg) c.2993T>G (p.Met998Arg) c.3017T>G (p.Met1006Arg) c.2846T>G (p.Met949Arg) c.2858T>G (p.Met953Arg) c.3176T>G (p.Met1059Arg) c.3086T>G (p.Met1029Arg) c.3062T>G (p.Met1021Arg) c.3044T>G (p.Met1015Arg) c.3116T>G (p.Met1039Arg) c.2675T>G (p.Met892Arg) c.3002T>G (p.Met1001Arg) c.3023T>G (p.Met1008Arg) | |
| 4 | g.113330405G>A | CA357935226 | ANK2 | c.3201G>A (p.Met1067Ile) c.3141G>A (p.Met1047Ile) n.796G>A n.6422G>A n.3196G>A n.775G>A n.2172G>A n.1440G>A n.786G>A n.1204G>A n.154G>A c.3060G>A (p.Met1020Ile) c.2997G>A (p.Met999Ile) c.546G>A (p.Met182Ile) c.2973G>A (p.Met991Ile) c.3096G>A (p.Met1032Ile) c.3033G>A (p.Met1011Ile) c.2898G>A (p.Met966Ile) c.2976G>A (p.Met992Ile) c.2775G>A (p.Met925Ile) c.2874G>A (p.Met958Ile) c.3105G>A (p.Met1035Ile) c.3009G>A (p.Met1003Ile) c.2982G>A (p.Met994Ile) c.2961G>A (p.Met987Ile) c.2934G>A (p.Met978Ile) c.723G>A (p.Met241Ile) c.2577G>A (p.Met859Ile) c.687G>A (p.Met229Ile) c.2958G>A (p.Met986Ile) c.2667G>A (p.Met889Ile) c.2817G>A (p.Met939Ile) c.196G>A c.3192G>A (p.Met1064Ile) c.3156G>A (p.Met1052Ile) c.3246G>A (p.Met1082Ile) c.3210G>A (p.Met1070Ile) c.3186G>A (p.Met1062Ile) c.3132G>A (p.Met1044Ile) c.3072G>A (p.Met1024Ile) c.3138G>A (p.Met1046Ile) c.3102G>A (p.Met1034Ile) c.3057G>A (p.Met1019Ile) c.3030G>A (p.Met1010Ile) c.2994G>A (p.Met998Ile) c.3018G>A (p.Met1006Ile) c.2847G>A (p.Met949Ile) c.2859G>A (p.Met953Ile) c.3177G>A (p.Met1059Ile) c.3087G>A (p.Met1029Ile) c.3063G>A (p.Met1021Ile) c.3045G>A (p.Met1015Ile) c.3117G>A (p.Met1039Ile) c.2676G>A (p.Met892Ile) c.3003G>A (p.Met1001Ile) c.3024G>A (p.Met1008Ile) | dbSNP |
| 4 | g.113330405G>C | CA357935227 | ANK2 | c.3201G>C (p.Met1067Ile) c.3141G>C (p.Met1047Ile) n.796G>C n.6422G>C n.3196G>C n.775G>C n.2172G>C n.1440G>C n.786G>C n.1204G>C n.154G>C c.3060G>C (p.Met1020Ile) c.2997G>C (p.Met999Ile) c.546G>C (p.Met182Ile) c.2973G>C (p.Met991Ile) c.3096G>C (p.Met1032Ile) c.3033G>C (p.Met1011Ile) c.2898G>C (p.Met966Ile) c.2976G>C (p.Met992Ile) c.2775G>C (p.Met925Ile) c.2874G>C (p.Met958Ile) c.3105G>C (p.Met1035Ile) c.3009G>C (p.Met1003Ile) c.2982G>C (p.Met994Ile) c.2961G>C (p.Met987Ile) c.2934G>C (p.Met978Ile) c.723G>C (p.Met241Ile) c.2577G>C (p.Met859Ile) c.687G>C (p.Met229Ile) c.2958G>C (p.Met986Ile) c.2667G>C (p.Met889Ile) c.2817G>C (p.Met939Ile) c.196G>C c.3192G>C (p.Met1064Ile) c.3156G>C (p.Met1052Ile) c.3246G>C (p.Met1082Ile) c.3210G>C (p.Met1070Ile) c.3186G>C (p.Met1062Ile) c.3132G>C (p.Met1044Ile) c.3072G>C (p.Met1024Ile) c.3138G>C (p.Met1046Ile) c.3102G>C (p.Met1034Ile) c.3057G>C (p.Met1019Ile) c.3030G>C (p.Met1010Ile) c.2994G>C (p.Met998Ile) c.3018G>C (p.Met1006Ile) c.2847G>C (p.Met949Ile) c.2859G>C (p.Met953Ile) c.3177G>C (p.Met1059Ile) c.3087G>C (p.Met1029Ile) c.3063G>C (p.Met1021Ile) c.3045G>C (p.Met1015Ile) c.3117G>C (p.Met1039Ile) c.2676G>C (p.Met892Ile) c.3003G>C (p.Met1001Ile) c.3024G>C (p.Met1008Ile) | dbSNP |
| 4 | g.113330405G>T | CA357935228 | ANK2 | c.3201G>T (p.Met1067Ile) c.3141G>T (p.Met1047Ile) n.796G>T n.6422G>T n.3196G>T n.775G>T n.2172G>T n.1440G>T n.786G>T n.1204G>T n.154G>T c.3060G>T (p.Met1020Ile) c.2997G>T (p.Met999Ile) c.546G>T (p.Met182Ile) c.2973G>T (p.Met991Ile) c.3096G>T (p.Met1032Ile) c.3033G>T (p.Met1011Ile) c.2898G>T (p.Met966Ile) c.2976G>T (p.Met992Ile) c.2775G>T (p.Met925Ile) c.2874G>T (p.Met958Ile) c.3105G>T (p.Met1035Ile) c.3009G>T (p.Met1003Ile) c.2982G>T (p.Met994Ile) c.2961G>T (p.Met987Ile) c.2934G>T (p.Met978Ile) c.723G>T (p.Met241Ile) c.2577G>T (p.Met859Ile) c.687G>T (p.Met229Ile) c.2958G>T (p.Met986Ile) c.2667G>T (p.Met889Ile) c.2817G>T (p.Met939Ile) c.196G>T c.3192G>T (p.Met1064Ile) c.3156G>T (p.Met1052Ile) c.3246G>T (p.Met1082Ile) c.3210G>T (p.Met1070Ile) c.3186G>T (p.Met1062Ile) c.3132G>T (p.Met1044Ile) c.3072G>T (p.Met1024Ile) c.3138G>T (p.Met1046Ile) c.3102G>T (p.Met1034Ile) c.3057G>T (p.Met1019Ile) c.3030G>T (p.Met1010Ile) c.2994G>T (p.Met998Ile) c.3018G>T (p.Met1006Ile) c.2847G>T (p.Met949Ile) c.2859G>T (p.Met953Ile) c.3177G>T (p.Met1059Ile) c.3087G>T (p.Met1029Ile) c.3063G>T (p.Met1021Ile) c.3045G>T (p.Met1015Ile) c.3117G>T (p.Met1039Ile) c.2676G>T (p.Met892Ile) c.3003G>T (p.Met1001Ile) c.3024G>T (p.Met1008Ile) | |
| 4 | g.113330406G>A | CA357935230 | ANK2 | c.3202G>A (p.Val1068Met) c.3142G>A (p.Val1048Met) n.797G>A n.6423G>A n.3197G>A n.776G>A n.2173G>A n.1441G>A n.787G>A n.1205G>A n.155G>A c.3061G>A (p.Val1021Met) c.2998G>A (p.Val1000Met) c.547G>A (p.Val183Met) c.2974G>A (p.Val992Met) c.3097G>A (p.Val1033Met) c.3034G>A (p.Val1012Met) c.2899G>A (p.Val967Met) c.2977G>A (p.Val993Met) c.2776G>A (p.Val926Met) c.2875G>A (p.Val959Met) c.3106G>A (p.Val1036Met) c.3010G>A (p.Val1004Met) c.2983G>A (p.Val995Met) c.2962G>A (p.Val988Met) c.2935G>A (p.Val979Met) c.724G>A (p.Val242Met) c.2578G>A (p.Val860Met) c.688G>A (p.Val230Met) c.2959G>A (p.Val987Met) c.2668G>A (p.Val890Met) c.2818G>A (p.Val940Met) c.197G>A c.3193G>A (p.Val1065Met) c.3157G>A (p.Val1053Met) c.3247G>A (p.Val1083Met) c.3211G>A (p.Val1071Met) c.3187G>A (p.Val1063Met) c.3133G>A (p.Val1045Met) c.3073G>A (p.Val1025Met) c.3139G>A (p.Val1047Met) c.3103G>A (p.Val1035Met) c.3058G>A (p.Val1020Met) c.3031G>A (p.Val1011Met) c.2995G>A (p.Val999Met) c.3019G>A (p.Val1007Met) c.2848G>A (p.Val950Met) c.2860G>A (p.Val954Met) c.3178G>A (p.Val1060Met) c.3088G>A (p.Val1030Met) c.3064G>A (p.Val1022Met) c.3046G>A (p.Val1016Met) c.3118G>A (p.Val1040Met) c.2677G>A (p.Val893Met) c.3004G>A (p.Val1002Met) c.3025G>A (p.Val1009Met) | dbSNP gnomAD v4 |
| 4 | g.113330406G>C | CA357935231 | ANK2 | c.3202G>C (p.Val1068Leu) c.3142G>C (p.Val1048Leu) n.797G>C n.6423G>C n.3197G>C n.776G>C n.2173G>C n.1441G>C n.787G>C n.1205G>C n.155G>C c.3061G>C (p.Val1021Leu) c.2998G>C (p.Val1000Leu) c.547G>C (p.Val183Leu) c.2974G>C (p.Val992Leu) c.3097G>C (p.Val1033Leu) c.3034G>C (p.Val1012Leu) c.2899G>C (p.Val967Leu) c.2977G>C (p.Val993Leu) c.2776G>C (p.Val926Leu) c.2875G>C (p.Val959Leu) c.3106G>C (p.Val1036Leu) c.3010G>C (p.Val1004Leu) c.2983G>C (p.Val995Leu) c.2962G>C (p.Val988Leu) c.2935G>C (p.Val979Leu) c.724G>C (p.Val242Leu) c.2578G>C (p.Val860Leu) c.688G>C (p.Val230Leu) c.2959G>C (p.Val987Leu) c.2668G>C (p.Val890Leu) c.2818G>C (p.Val940Leu) c.197G>C c.3193G>C (p.Val1065Leu) c.3157G>C (p.Val1053Leu) c.3247G>C (p.Val1083Leu) c.3211G>C (p.Val1071Leu) c.3187G>C (p.Val1063Leu) c.3133G>C (p.Val1045Leu) c.3073G>C (p.Val1025Leu) c.3139G>C (p.Val1047Leu) c.3103G>C (p.Val1035Leu) c.3058G>C (p.Val1020Leu) c.3031G>C (p.Val1011Leu) c.2995G>C (p.Val999Leu) c.3019G>C (p.Val1007Leu) c.2848G>C (p.Val950Leu) c.2860G>C (p.Val954Leu) c.3178G>C (p.Val1060Leu) c.3088G>C (p.Val1030Leu) c.3064G>C (p.Val1022Leu) c.3046G>C (p.Val1016Leu) c.3118G>C (p.Val1040Leu) c.2677G>C (p.Val893Leu) c.3004G>C (p.Val1002Leu) c.3025G>C (p.Val1009Leu) | dbSNP |
| 4 | g.113330406G>T | CA357935229 | ANK2 | c.3202G>T (p.Val1068Leu) c.3142G>T (p.Val1048Leu) n.797G>T n.6423G>T n.3197G>T n.776G>T n.2173G>T n.1441G>T n.787G>T n.1205G>T n.155G>T c.3061G>T (p.Val1021Leu) c.2998G>T (p.Val1000Leu) c.547G>T (p.Val183Leu) c.2974G>T (p.Val992Leu) c.3097G>T (p.Val1033Leu) c.3034G>T (p.Val1012Leu) c.2899G>T (p.Val967Leu) c.2977G>T (p.Val993Leu) c.2776G>T (p.Val926Leu) c.2875G>T (p.Val959Leu) c.3106G>T (p.Val1036Leu) c.3010G>T (p.Val1004Leu) c.2983G>T (p.Val995Leu) c.2962G>T (p.Val988Leu) c.2935G>T (p.Val979Leu) c.724G>T (p.Val242Leu) c.2578G>T (p.Val860Leu) c.688G>T (p.Val230Leu) c.2959G>T (p.Val987Leu) c.2668G>T (p.Val890Leu) c.2818G>T (p.Val940Leu) c.197G>T c.3193G>T (p.Val1065Leu) c.3157G>T (p.Val1053Leu) c.3247G>T (p.Val1083Leu) c.3211G>T (p.Val1071Leu) c.3187G>T (p.Val1063Leu) c.3133G>T (p.Val1045Leu) c.3073G>T (p.Val1025Leu) c.3139G>T (p.Val1047Leu) c.3103G>T (p.Val1035Leu) c.3058G>T (p.Val1020Leu) c.3031G>T (p.Val1011Leu) c.2995G>T (p.Val999Leu) c.3019G>T (p.Val1007Leu) c.2848G>T (p.Val950Leu) c.2860G>T (p.Val954Leu) c.3178G>T (p.Val1060Leu) c.3088G>T (p.Val1030Leu) c.3064G>T (p.Val1022Leu) c.3046G>T (p.Val1016Leu) c.3118G>T (p.Val1040Leu) c.2677G>T (p.Val893Leu) c.3004G>T (p.Val1002Leu) c.3025G>T (p.Val1009Leu) | |
| 4 | g.113330407T>A | CA357935234 | ANK2 | c.3203T>A (p.Val1068Glu) c.3143T>A (p.Val1048Glu) n.798T>A n.6424T>A n.3198T>A n.777T>A n.2174T>A n.1442T>A n.788T>A n.1206T>A n.156T>A c.3062T>A (p.Val1021Glu) c.2999T>A (p.Val1000Glu) c.548T>A (p.Val183Glu) c.2975T>A (p.Val992Glu) c.3098T>A (p.Val1033Glu) c.3035T>A (p.Val1012Glu) c.2900T>A (p.Val967Glu) c.2978T>A (p.Val993Glu) c.2777T>A (p.Val926Glu) c.2876T>A (p.Val959Glu) c.3107T>A (p.Val1036Glu) c.3011T>A (p.Val1004Glu) c.2984T>A (p.Val995Glu) c.2963T>A (p.Val988Glu) c.2936T>A (p.Val979Glu) c.725T>A (p.Val242Glu) c.2579T>A (p.Val860Glu) c.689T>A (p.Val230Glu) c.2960T>A (p.Val987Glu) c.2669T>A (p.Val890Glu) c.2819T>A (p.Val940Glu) c.198T>A c.3194T>A (p.Val1065Glu) c.3158T>A (p.Val1053Glu) c.3248T>A (p.Val1083Glu) c.3212T>A (p.Val1071Glu) c.3188T>A (p.Val1063Glu) c.3134T>A (p.Val1045Glu) c.3074T>A (p.Val1025Glu) c.3140T>A (p.Val1047Glu) c.3104T>A (p.Val1035Glu) c.3059T>A (p.Val1020Glu) c.3032T>A (p.Val1011Glu) c.2996T>A (p.Val999Glu) c.3020T>A (p.Val1007Glu) c.2849T>A (p.Val950Glu) c.2861T>A (p.Val954Glu) c.3179T>A (p.Val1060Glu) c.3089T>A (p.Val1030Glu) c.3065T>A (p.Val1022Glu) c.3047T>A (p.Val1016Glu) c.3119T>A (p.Val1040Glu) c.2678T>A (p.Val893Glu) c.3005T>A (p.Val1002Glu) c.3026T>A (p.Val1009Glu) | |
| 4 | g.113330407T>C | CA357935232 | ANK2 | c.3203T>C (p.Val1068Ala) c.3143T>C (p.Val1048Ala) n.798T>C n.6424T>C n.3198T>C n.777T>C n.2174T>C n.1442T>C n.788T>C n.1206T>C n.156T>C c.3062T>C (p.Val1021Ala) c.2999T>C (p.Val1000Ala) c.548T>C (p.Val183Ala) c.2975T>C (p.Val992Ala) c.3098T>C (p.Val1033Ala) c.3035T>C (p.Val1012Ala) c.2900T>C (p.Val967Ala) c.2978T>C (p.Val993Ala) c.2777T>C (p.Val926Ala) c.2876T>C (p.Val959Ala) c.3107T>C (p.Val1036Ala) c.3011T>C (p.Val1004Ala) c.2984T>C (p.Val995Ala) c.2963T>C (p.Val988Ala) c.2936T>C (p.Val979Ala) c.725T>C (p.Val242Ala) c.2579T>C (p.Val860Ala) c.689T>C (p.Val230Ala) c.2960T>C (p.Val987Ala) c.2669T>C (p.Val890Ala) c.2819T>C (p.Val940Ala) c.198T>C c.3194T>C (p.Val1065Ala) c.3158T>C (p.Val1053Ala) c.3248T>C (p.Val1083Ala) c.3212T>C (p.Val1071Ala) c.3188T>C (p.Val1063Ala) c.3134T>C (p.Val1045Ala) c.3074T>C (p.Val1025Ala) c.3140T>C (p.Val1047Ala) c.3104T>C (p.Val1035Ala) c.3059T>C (p.Val1020Ala) c.3032T>C (p.Val1011Ala) c.2996T>C (p.Val999Ala) c.3020T>C (p.Val1007Ala) c.2849T>C (p.Val950Ala) c.2861T>C (p.Val954Ala) c.3179T>C (p.Val1060Ala) c.3089T>C (p.Val1030Ala) c.3065T>C (p.Val1022Ala) c.3047T>C (p.Val1016Ala) c.3119T>C (p.Val1040Ala) c.2678T>C (p.Val893Ala) c.3005T>C (p.Val1002Ala) c.3026T>C (p.Val1009Ala) | |
| 4 | g.113330407T>G | CA357935233 | ANK2 | c.3203T>G (p.Val1068Gly) c.3143T>G (p.Val1048Gly) n.798T>G n.6424T>G n.3198T>G n.777T>G n.2174T>G n.1442T>G n.788T>G n.1206T>G n.156T>G c.3062T>G (p.Val1021Gly) c.2999T>G (p.Val1000Gly) c.548T>G (p.Val183Gly) c.2975T>G (p.Val992Gly) c.3098T>G (p.Val1033Gly) c.3035T>G (p.Val1012Gly) c.2900T>G (p.Val967Gly) c.2978T>G (p.Val993Gly) c.2777T>G (p.Val926Gly) c.2876T>G (p.Val959Gly) c.3107T>G (p.Val1036Gly) c.3011T>G (p.Val1004Gly) c.2984T>G (p.Val995Gly) c.2963T>G (p.Val988Gly) c.2936T>G (p.Val979Gly) c.725T>G (p.Val242Gly) c.2579T>G (p.Val860Gly) c.689T>G (p.Val230Gly) c.2960T>G (p.Val987Gly) c.2669T>G (p.Val890Gly) c.2819T>G (p.Val940Gly) c.198T>G c.3194T>G (p.Val1065Gly) c.3158T>G (p.Val1053Gly) c.3248T>G (p.Val1083Gly) c.3212T>G (p.Val1071Gly) c.3188T>G (p.Val1063Gly) c.3134T>G (p.Val1045Gly) c.3074T>G (p.Val1025Gly) c.3140T>G (p.Val1047Gly) c.3104T>G (p.Val1035Gly) c.3059T>G (p.Val1020Gly) c.3032T>G (p.Val1011Gly) c.2996T>G (p.Val999Gly) c.3020T>G (p.Val1007Gly) c.2849T>G (p.Val950Gly) c.2861T>G (p.Val954Gly) c.3179T>G (p.Val1060Gly) c.3089T>G (p.Val1030Gly) c.3065T>G (p.Val1022Gly) c.3047T>G (p.Val1016Gly) c.3119T>G (p.Val1040Gly) c.2678T>G (p.Val893Gly) c.3005T>G (p.Val1002Gly) c.3026T>G (p.Val1009Gly) | |
| 4 | g.113330408G>A | CA440842581 | ANK2 | c.3204G>A (p.Val1068=) c.3144G>A (p.Val1048=) n.799G>A n.6425G>A n.3199G>A n.778G>A n.2175G>A n.1443G>A n.789G>A n.1207G>A n.157G>A c.3063G>A (p.Val1021=) c.3000G>A (p.Val1000=) c.549G>A (p.Val183=) c.2976G>A (p.Val992=) c.3099G>A (p.Val1033=) c.3036G>A (p.Val1012=) c.2901G>A (p.Val967=) c.2979G>A (p.Val993=) c.2778G>A (p.Val926=) c.2877G>A (p.Val959=) c.3108G>A (p.Val1036=) c.3012G>A (p.Val1004=) c.2985G>A (p.Val995=) c.2964G>A (p.Val988=) c.2937G>A (p.Val979=) c.726G>A (p.Val242=) c.2580G>A (p.Val860=) c.690G>A (p.Val230=) c.2961G>A (p.Val987=) c.2670G>A (p.Val890=) c.2820G>A (p.Val940=) c.199G>A c.3195G>A (p.Val1065=) c.3159G>A (p.Val1053=) c.3249G>A (p.Val1083=) c.3213G>A (p.Val1071=) c.3189G>A (p.Val1063=) c.3135G>A (p.Val1045=) c.3075G>A (p.Val1025=) c.3141G>A (p.Val1047=) c.3105G>A (p.Val1035=) c.3060G>A (p.Val1020=) c.3033G>A (p.Val1011=) c.2997G>A (p.Val999=) c.3021G>A (p.Val1007=) c.2850G>A (p.Val950=) c.2862G>A (p.Val954=) c.3180G>A (p.Val1060=) c.3090G>A (p.Val1030=) c.3066G>A (p.Val1022=) c.3048G>A (p.Val1016=) c.3120G>A (p.Val1040=) c.2679G>A (p.Val893=) c.3006G>A (p.Val1002=) c.3027G>A (p.Val1009=) | |
| 4 | g.113330408G>C | CA440842582 | ANK2 | c.3204G>C (p.Val1068=) c.3144G>C (p.Val1048=) n.799G>C n.6425G>C n.3199G>C n.778G>C n.2175G>C n.1443G>C n.789G>C n.1207G>C n.157G>C c.3063G>C (p.Val1021=) c.3000G>C (p.Val1000=) c.549G>C (p.Val183=) c.2976G>C (p.Val992=) c.3099G>C (p.Val1033=) c.3036G>C (p.Val1012=) c.2901G>C (p.Val967=) c.2979G>C (p.Val993=) c.2778G>C (p.Val926=) c.2877G>C (p.Val959=) c.3108G>C (p.Val1036=) c.3012G>C (p.Val1004=) c.2985G>C (p.Val995=) c.2964G>C (p.Val988=) c.2937G>C (p.Val979=) c.726G>C (p.Val242=) c.2580G>C (p.Val860=) c.690G>C (p.Val230=) c.2961G>C (p.Val987=) c.2670G>C (p.Val890=) c.2820G>C (p.Val940=) c.199G>C c.3195G>C (p.Val1065=) c.3159G>C (p.Val1053=) c.3249G>C (p.Val1083=) c.3213G>C (p.Val1071=) c.3189G>C (p.Val1063=) c.3135G>C (p.Val1045=) c.3075G>C (p.Val1025=) c.3141G>C (p.Val1047=) c.3105G>C (p.Val1035=) c.3060G>C (p.Val1020=) c.3033G>C (p.Val1011=) c.2997G>C (p.Val999=) c.3021G>C (p.Val1007=) c.2850G>C (p.Val950=) c.2862G>C (p.Val954=) c.3180G>C (p.Val1060=) c.3090G>C (p.Val1030=) c.3066G>C (p.Val1022=) c.3048G>C (p.Val1016=) c.3120G>C (p.Val1040=) c.2679G>C (p.Val893=) c.3006G>C (p.Val1002=) c.3027G>C (p.Val1009=) | |
| 4 | g.113330408G>T | CA440842583 | ANK2 | c.3204G>T (p.Val1068=) c.3144G>T (p.Val1048=) n.799G>T n.6425G>T n.3199G>T n.778G>T n.2175G>T n.1443G>T n.789G>T n.1207G>T n.157G>T c.3063G>T (p.Val1021=) c.3000G>T (p.Val1000=) c.549G>T (p.Val183=) c.2976G>T (p.Val992=) c.3099G>T (p.Val1033=) c.3036G>T (p.Val1012=) c.2901G>T (p.Val967=) c.2979G>T (p.Val993=) c.2778G>T (p.Val926=) c.2877G>T (p.Val959=) c.3108G>T (p.Val1036=) c.3012G>T (p.Val1004=) c.2985G>T (p.Val995=) c.2964G>T (p.Val988=) c.2937G>T (p.Val979=) c.726G>T (p.Val242=) c.2580G>T (p.Val860=) c.690G>T (p.Val230=) c.2961G>T (p.Val987=) c.2670G>T (p.Val890=) c.2820G>T (p.Val940=) c.199G>T c.3195G>T (p.Val1065=) c.3159G>T (p.Val1053=) c.3249G>T (p.Val1083=) c.3213G>T (p.Val1071=) c.3189G>T (p.Val1063=) c.3135G>T (p.Val1045=) c.3075G>T (p.Val1025=) c.3141G>T (p.Val1047=) c.3105G>T (p.Val1035=) c.3060G>T (p.Val1020=) c.3033G>T (p.Val1011=) c.2997G>T (p.Val999=) c.3021G>T (p.Val1007=) c.2850G>T (p.Val950=) c.2862G>T (p.Val954=) c.3180G>T (p.Val1060=) c.3090G>T (p.Val1030=) c.3066G>T (p.Val1022=) c.3048G>T (p.Val1016=) c.3120G>T (p.Val1040=) c.2679G>T (p.Val893=) c.3006G>T (p.Val1002=) c.3027G>T (p.Val1009=) | |
| 4 | g.113330409G>A | CA357935235 | ANK2 | c.3205G>A (p.Glu1069Lys) c.3145G>A (p.Glu1049Lys) n.800G>A n.6426G>A n.3200G>A n.779G>A n.2176G>A n.1444G>A n.790G>A n.1208G>A n.158G>A c.3064G>A (p.Glu1022Lys) c.3001G>A (p.Glu1001Lys) c.550G>A (p.Glu184Lys) c.2977G>A (p.Glu993Lys) c.3100G>A (p.Glu1034Lys) c.3037G>A (p.Glu1013Lys) c.2902G>A (p.Glu968Lys) c.2980G>A (p.Glu994Lys) c.2779G>A (p.Glu927Lys) c.2878G>A (p.Glu960Lys) c.3109G>A (p.Glu1037Lys) c.3013G>A (p.Glu1005Lys) c.2986G>A (p.Glu996Lys) c.2965G>A (p.Glu989Lys) c.2938G>A (p.Glu980Lys) c.727G>A (p.Glu243Lys) c.2581G>A (p.Glu861Lys) c.691G>A (p.Glu231Lys) c.2962G>A (p.Glu988Lys) c.2671G>A (p.Glu891Lys) c.2821G>A (p.Glu941Lys) c.200G>A c.3196G>A (p.Glu1066Lys) c.3160G>A (p.Glu1054Lys) c.3250G>A (p.Glu1084Lys) c.3214G>A (p.Glu1072Lys) c.3190G>A (p.Glu1064Lys) c.3136G>A (p.Glu1046Lys) c.3076G>A (p.Glu1026Lys) c.3142G>A (p.Glu1048Lys) c.3106G>A (p.Glu1036Lys) c.3061G>A (p.Glu1021Lys) c.3034G>A (p.Glu1012Lys) c.2998G>A (p.Glu1000Lys) c.3022G>A (p.Glu1008Lys) c.2851G>A (p.Glu951Lys) c.2863G>A (p.Glu955Lys) c.3181G>A (p.Glu1061Lys) c.3091G>A (p.Glu1031Lys) c.3067G>A (p.Glu1023Lys) c.3049G>A (p.Glu1017Lys) c.3121G>A (p.Glu1041Lys) c.2680G>A (p.Glu894Lys) c.3007G>A (p.Glu1003Lys) c.3028G>A (p.Glu1010Lys) | dbSNP COSMIC COSMIC |
| 4 | g.113330409G>C | CA357935236 | ANK2 | c.3205G>C (p.Glu1069Gln) c.3145G>C (p.Glu1049Gln) n.800G>C n.6426G>C n.3200G>C n.779G>C n.2176G>C n.1444G>C n.790G>C n.1208G>C n.158G>C c.3064G>C (p.Glu1022Gln) c.3001G>C (p.Glu1001Gln) c.550G>C (p.Glu184Gln) c.2977G>C (p.Glu993Gln) c.3100G>C (p.Glu1034Gln) c.3037G>C (p.Glu1013Gln) c.2902G>C (p.Glu968Gln) c.2980G>C (p.Glu994Gln) c.2779G>C (p.Glu927Gln) c.2878G>C (p.Glu960Gln) c.3109G>C (p.Glu1037Gln) c.3013G>C (p.Glu1005Gln) c.2986G>C (p.Glu996Gln) c.2965G>C (p.Glu989Gln) c.2938G>C (p.Glu980Gln) c.727G>C (p.Glu243Gln) c.2581G>C (p.Glu861Gln) c.691G>C (p.Glu231Gln) c.2962G>C (p.Glu988Gln) c.2671G>C (p.Glu891Gln) c.2821G>C (p.Glu941Gln) c.200G>C c.3196G>C (p.Glu1066Gln) c.3160G>C (p.Glu1054Gln) c.3250G>C (p.Glu1084Gln) c.3214G>C (p.Glu1072Gln) c.3190G>C (p.Glu1064Gln) c.3136G>C (p.Glu1046Gln) c.3076G>C (p.Glu1026Gln) c.3142G>C (p.Glu1048Gln) c.3106G>C (p.Glu1036Gln) c.3061G>C (p.Glu1021Gln) c.3034G>C (p.Glu1012Gln) c.2998G>C (p.Glu1000Gln) c.3022G>C (p.Glu1008Gln) c.2851G>C (p.Glu951Gln) c.2863G>C (p.Glu955Gln) c.3181G>C (p.Glu1061Gln) c.3091G>C (p.Glu1031Gln) c.3067G>C (p.Glu1023Gln) c.3049G>C (p.Glu1017Gln) c.3121G>C (p.Glu1041Gln) c.2680G>C (p.Glu894Gln) c.3007G>C (p.Glu1003Gln) c.3028G>C (p.Glu1010Gln) | dbSNP |
| 4 | g.113330409G>T | CA357935237 | ANK2 | c.3205G>T (p.Glu1069Ter) c.3145G>T (p.Glu1049Ter) n.800G>T n.6426G>T n.3200G>T n.779G>T n.2176G>T n.1444G>T n.790G>T n.1208G>T n.158G>T c.3064G>T (p.Glu1022Ter) c.3001G>T (p.Glu1001Ter) c.550G>T (p.Glu184Ter) c.2977G>T (p.Glu993Ter) c.3100G>T (p.Glu1034Ter) c.3037G>T (p.Glu1013Ter) c.2902G>T (p.Glu968Ter) c.2980G>T (p.Glu994Ter) c.2779G>T (p.Glu927Ter) c.2878G>T (p.Glu960Ter) c.3109G>T (p.Glu1037Ter) c.3013G>T (p.Glu1005Ter) c.2986G>T (p.Glu996Ter) c.2965G>T (p.Glu989Ter) c.2938G>T (p.Glu980Ter) c.727G>T (p.Glu243Ter) c.2581G>T (p.Glu861Ter) c.691G>T (p.Glu231Ter) c.2962G>T (p.Glu988Ter) c.2671G>T (p.Glu891Ter) c.2821G>T (p.Glu941Ter) c.200G>T c.3196G>T (p.Glu1066Ter) c.3160G>T (p.Glu1054Ter) c.3250G>T (p.Glu1084Ter) c.3214G>T (p.Glu1072Ter) c.3190G>T (p.Glu1064Ter) c.3136G>T (p.Glu1046Ter) c.3076G>T (p.Glu1026Ter) c.3142G>T (p.Glu1048Ter) c.3106G>T (p.Glu1036Ter) c.3061G>T (p.Glu1021Ter) c.3034G>T (p.Glu1012Ter) c.2998G>T (p.Glu1000Ter) c.3022G>T (p.Glu1008Ter) c.2851G>T (p.Glu951Ter) c.2863G>T (p.Glu955Ter) c.3181G>T (p.Glu1061Ter) c.3091G>T (p.Glu1031Ter) c.3067G>T (p.Glu1023Ter) c.3049G>T (p.Glu1017Ter) c.3121G>T (p.Glu1041Ter) c.2680G>T (p.Glu894Ter) c.3007G>T (p.Glu1003Ter) c.3028G>T (p.Glu1010Ter) | dbSNP |
| 4 | g.113330410A>C | CA357935238 | ANK2 | c.3206A>C (p.Glu1069Ala) c.3146A>C (p.Glu1049Ala) n.801A>C n.6427A>C n.3201A>C n.780A>C n.2177A>C n.1445A>C n.791A>C n.1209A>C n.159A>C c.3065A>C (p.Glu1022Ala) c.3002A>C (p.Glu1001Ala) c.551A>C (p.Glu184Ala) c.2978A>C (p.Glu993Ala) c.3101A>C (p.Glu1034Ala) c.3038A>C (p.Glu1013Ala) c.2903A>C (p.Glu968Ala) c.2981A>C (p.Glu994Ala) c.2780A>C (p.Glu927Ala) c.2879A>C (p.Glu960Ala) c.3110A>C (p.Glu1037Ala) c.3014A>C (p.Glu1005Ala) c.2987A>C (p.Glu996Ala) c.2966A>C (p.Glu989Ala) c.2939A>C (p.Glu980Ala) c.728A>C (p.Glu243Ala) c.2582A>C (p.Glu861Ala) c.692A>C (p.Glu231Ala) c.2963A>C (p.Glu988Ala) c.2672A>C (p.Glu891Ala) c.2822A>C (p.Glu941Ala) c.201A>C c.3197A>C (p.Glu1066Ala) c.3161A>C (p.Glu1054Ala) c.3251A>C (p.Glu1084Ala) c.3215A>C (p.Glu1072Ala) c.3191A>C (p.Glu1064Ala) c.3137A>C (p.Glu1046Ala) c.3077A>C (p.Glu1026Ala) c.3143A>C (p.Glu1048Ala) c.3107A>C (p.Glu1036Ala) c.3062A>C (p.Glu1021Ala) c.3035A>C (p.Glu1012Ala) c.2999A>C (p.Glu1000Ala) c.3023A>C (p.Glu1008Ala) c.2852A>C (p.Glu951Ala) c.2864A>C (p.Glu955Ala) c.3182A>C (p.Glu1061Ala) c.3092A>C (p.Glu1031Ala) c.3068A>C (p.Glu1023Ala) c.3050A>C (p.Glu1017Ala) c.3122A>C (p.Glu1041Ala) c.2681A>C (p.Glu894Ala) c.3008A>C (p.Glu1003Ala) c.3029A>C (p.Glu1010Ala) | |
| 4 | g.113330410A>G | CA357935239 | ANK2 | c.3206A>G (p.Glu1069Gly) c.3146A>G (p.Glu1049Gly) n.801A>G n.6427A>G n.3201A>G n.780A>G n.2177A>G n.1445A>G n.791A>G n.1209A>G n.159A>G c.3065A>G (p.Glu1022Gly) c.3002A>G (p.Glu1001Gly) c.551A>G (p.Glu184Gly) c.2978A>G (p.Glu993Gly) c.3101A>G (p.Glu1034Gly) c.3038A>G (p.Glu1013Gly) c.2903A>G (p.Glu968Gly) c.2981A>G (p.Glu994Gly) c.2780A>G (p.Glu927Gly) c.2879A>G (p.Glu960Gly) c.3110A>G (p.Glu1037Gly) c.3014A>G (p.Glu1005Gly) c.2987A>G (p.Glu996Gly) c.2966A>G (p.Glu989Gly) c.2939A>G (p.Glu980Gly) c.728A>G (p.Glu243Gly) c.2582A>G (p.Glu861Gly) c.692A>G (p.Glu231Gly) c.2963A>G (p.Glu988Gly) c.2672A>G (p.Glu891Gly) c.2822A>G (p.Glu941Gly) c.201A>G c.3197A>G (p.Glu1066Gly) c.3161A>G (p.Glu1054Gly) c.3251A>G (p.Glu1084Gly) c.3215A>G (p.Glu1072Gly) c.3191A>G (p.Glu1064Gly) c.3137A>G (p.Glu1046Gly) c.3077A>G (p.Glu1026Gly) c.3143A>G (p.Glu1048Gly) c.3107A>G (p.Glu1036Gly) c.3062A>G (p.Glu1021Gly) c.3035A>G (p.Glu1012Gly) c.2999A>G (p.Glu1000Gly) c.3023A>G (p.Glu1008Gly) c.2852A>G (p.Glu951Gly) c.2864A>G (p.Glu955Gly) c.3182A>G (p.Glu1061Gly) c.3092A>G (p.Glu1031Gly) c.3068A>G (p.Glu1023Gly) c.3050A>G (p.Glu1017Gly) c.3122A>G (p.Glu1041Gly) c.2681A>G (p.Glu894Gly) c.3008A>G (p.Glu1003Gly) c.3029A>G (p.Glu1010Gly) | dbSNP |
| 4 | g.113330410A>T | CA357935240 | ANK2 | c.3206A>T (p.Glu1069Val) c.3146A>T (p.Glu1049Val) n.801A>T n.6427A>T n.3201A>T n.780A>T n.2177A>T n.1445A>T n.791A>T n.1209A>T n.159A>T c.3065A>T (p.Glu1022Val) c.3002A>T (p.Glu1001Val) c.551A>T (p.Glu184Val) c.2978A>T (p.Glu993Val) c.3101A>T (p.Glu1034Val) c.3038A>T (p.Glu1013Val) c.2903A>T (p.Glu968Val) c.2981A>T (p.Glu994Val) c.2780A>T (p.Glu927Val) c.2879A>T (p.Glu960Val) c.3110A>T (p.Glu1037Val) c.3014A>T (p.Glu1005Val) c.2987A>T (p.Glu996Val) c.2966A>T (p.Glu989Val) c.2939A>T (p.Glu980Val) c.728A>T (p.Glu243Val) c.2582A>T (p.Glu861Val) c.692A>T (p.Glu231Val) c.2963A>T (p.Glu988Val) c.2672A>T (p.Glu891Val) c.2822A>T (p.Glu941Val) c.201A>T c.3197A>T (p.Glu1066Val) c.3161A>T (p.Glu1054Val) c.3251A>T (p.Glu1084Val) c.3215A>T (p.Glu1072Val) c.3191A>T (p.Glu1064Val) c.3137A>T (p.Glu1046Val) c.3077A>T (p.Glu1026Val) c.3143A>T (p.Glu1048Val) c.3107A>T (p.Glu1036Val) c.3062A>T (p.Glu1021Val) c.3035A>T (p.Glu1012Val) c.2999A>T (p.Glu1000Val) c.3023A>T (p.Glu1008Val) c.2852A>T (p.Glu951Val) c.2864A>T (p.Glu955Val) c.3182A>T (p.Glu1061Val) c.3092A>T (p.Glu1031Val) c.3068A>T (p.Glu1023Val) c.3050A>T (p.Glu1017Val) c.3122A>T (p.Glu1041Val) c.2681A>T (p.Glu894Val) c.3008A>T (p.Glu1003Val) c.3029A>T (p.Glu1010Val) | |
| 4 | g.113330411A>C | CA357935241 | ANK2 | c.3207A>C (p.Glu1069Asp) c.3147A>C (p.Glu1049Asp) n.802A>C n.6428A>C n.3202A>C n.781A>C n.2178A>C n.1446A>C n.792A>C n.1210A>C n.160A>C c.3066A>C (p.Glu1022Asp) c.3003A>C (p.Glu1001Asp) c.552A>C (p.Glu184Asp) c.2979A>C (p.Glu993Asp) c.3102A>C (p.Glu1034Asp) c.3039A>C (p.Glu1013Asp) c.2904A>C (p.Glu968Asp) c.2982A>C (p.Glu994Asp) c.2781A>C (p.Glu927Asp) c.2880A>C (p.Glu960Asp) c.3111A>C (p.Glu1037Asp) c.3015A>C (p.Glu1005Asp) c.2988A>C (p.Glu996Asp) c.2967A>C (p.Glu989Asp) c.2940A>C (p.Glu980Asp) c.729A>C (p.Glu243Asp) c.2583A>C (p.Glu861Asp) c.693A>C (p.Glu231Asp) c.2964A>C (p.Glu988Asp) c.2673A>C (p.Glu891Asp) c.2823A>C (p.Glu941Asp) c.202A>C c.3198A>C (p.Glu1066Asp) c.3162A>C (p.Glu1054Asp) c.3252A>C (p.Glu1084Asp) c.3216A>C (p.Glu1072Asp) c.3192A>C (p.Glu1064Asp) c.3138A>C (p.Glu1046Asp) c.3078A>C (p.Glu1026Asp) c.3144A>C (p.Glu1048Asp) c.3108A>C (p.Glu1036Asp) c.3063A>C (p.Glu1021Asp) c.3036A>C (p.Glu1012Asp) c.3000A>C (p.Glu1000Asp) c.3024A>C (p.Glu1008Asp) c.2853A>C (p.Glu951Asp) c.2865A>C (p.Glu955Asp) c.3183A>C (p.Glu1061Asp) c.3093A>C (p.Glu1031Asp) c.3069A>C (p.Glu1023Asp) c.3051A>C (p.Glu1017Asp) c.3123A>C (p.Glu1041Asp) c.2682A>C (p.Glu894Asp) c.3009A>C (p.Glu1003Asp) c.3030A>C (p.Glu1010Asp) | |
| 4 | g.113330411A>G | CA440842584 | ANK2 | c.3207A>G (p.Glu1069=) c.3147A>G (p.Glu1049=) n.802A>G n.6428A>G n.3202A>G n.781A>G n.2178A>G n.1446A>G n.792A>G n.1210A>G n.160A>G c.3066A>G (p.Glu1022=) c.3003A>G (p.Glu1001=) c.552A>G (p.Glu184=) c.2979A>G (p.Glu993=) c.3102A>G (p.Glu1034=) c.3039A>G (p.Glu1013=) c.2904A>G (p.Glu968=) c.2982A>G (p.Glu994=) c.2781A>G (p.Glu927=) c.2880A>G (p.Glu960=) c.3111A>G (p.Glu1037=) c.3015A>G (p.Glu1005=) c.2988A>G (p.Glu996=) c.2967A>G (p.Glu989=) c.2940A>G (p.Glu980=) c.729A>G (p.Glu243=) c.2583A>G (p.Glu861=) c.693A>G (p.Glu231=) c.2964A>G (p.Glu988=) c.2673A>G (p.Glu891=) c.2823A>G (p.Glu941=) c.202A>G c.3198A>G (p.Glu1066=) c.3162A>G (p.Glu1054=) c.3252A>G (p.Glu1084=) c.3216A>G (p.Glu1072=) c.3192A>G (p.Glu1064=) c.3138A>G (p.Glu1046=) c.3078A>G (p.Glu1026=) c.3144A>G (p.Glu1048=) c.3108A>G (p.Glu1036=) c.3063A>G (p.Glu1021=) c.3036A>G (p.Glu1012=) c.3000A>G (p.Glu1000=) c.3024A>G (p.Glu1008=) c.2853A>G (p.Glu951=) c.2865A>G (p.Glu955=) c.3183A>G (p.Glu1061=) c.3093A>G (p.Glu1031=) c.3069A>G (p.Glu1023=) c.3051A>G (p.Glu1017=) c.3123A>G (p.Glu1041=) c.2682A>G (p.Glu894=) c.3009A>G (p.Glu1003=) c.3030A>G (p.Glu1010=) |