Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.113333097A>C | CA357935994 | ANK2 | c.3409A>C (p.Lys1137Gln) c.3349A>C (p.Lys1117Gln) n.1451A>C n.905A>C n.113A>C n.6531A>C n.4905A>C n.25A>C n.884A>C n.2281A>C n.1648A>C n.994A>C n.1412A>C n.1863A>C c.3268A>C (p.Lys1090Gln) c.3106A>C (p.Lys1036Gln) c.655A>C (p.Lys219Gln) c.3082A>C (p.Lys1028Gln) c.3169A>C (p.Lys1057Gln) c.3304A>C (p.Lys1102Gln) c.3205A>C (p.Lys1069Gln) c.3142A>C (p.Lys1048Gln) c.3007A>C (p.Lys1003Gln) c.3085A>C (p.Lys1029Gln) c.2884A>C (p.Lys962Gln) c.2983A>C (p.Lys995Gln) c.3313A>C (p.Lys1105Gln) c.3118A>C (p.Lys1040Gln) c.3091A>C (p.Lys1031Gln) c.3070A>C (p.Lys1024Gln) c.3043A>C (p.Lys1015Gln) c.3241A>C (p.Lys1081Gln) c.832A>C (p.Lys278Gln) c.2686A>C (p.Lys896Gln) c.796A>C (p.Lys266Gln) c.3214A>C (p.Lys1072Gln) c.3067A>C (p.Lys1023Gln) c.2776A>C (p.Lys926Gln) c.2926A>C (p.Lys976Gln) n.116A>C c.305A>C c.3181A>C (p.Lys1061Gln) c.3301A>C (p.Lys1101Gln) c.3265A>C (p.Lys1089Gln) c.3355A>C (p.Lys1119Gln) c.3319A>C (p.Lys1107Gln) c.3295A>C (p.Lys1099Gln) c.3340A>C (p.Lys1114Gln) c.3280A>C (p.Lys1094Gln) c.3247A>C (p.Lys1083Gln) c.3310A>C (p.Lys1104Gln) c.3166A>C (p.Lys1056Gln) c.3346A>C (p.Lys1116Gln) c.3238A>C (p.Lys1080Gln) c.3202A>C (p.Lys1068Gln) c.3217A>C (p.Lys1073Gln) c.3127A>C (p.Lys1043Gln) c.3055A>C (p.Lys1019Gln) c.3139A>C (p.Lys1047Gln) c.2968A>C (p.Lys990Gln) c.3385A>C (p.Lys1129Gln) c.3271A>C (p.Lys1091Gln) c.3253A>C (p.Lys1085Gln) c.3325A>C (p.Lys1109Gln) c.2785A>C (p.Lys929Gln) c.3112A>C (p.Lys1038Gln) c.3133A>C (p.Lys1045Gln) | |
4 | g.113333097A>G | CA357935992 | ANK2 | c.3409A>G (p.Lys1137Glu) c.3349A>G (p.Lys1117Glu) n.1451A>G n.905A>G n.113A>G n.6531A>G n.4905A>G n.25A>G n.884A>G n.2281A>G n.1648A>G n.994A>G n.1412A>G n.1863A>G c.3268A>G (p.Lys1090Glu) c.3106A>G (p.Lys1036Glu) c.655A>G (p.Lys219Glu) c.3082A>G (p.Lys1028Glu) c.3169A>G (p.Lys1057Glu) c.3304A>G (p.Lys1102Glu) c.3205A>G (p.Lys1069Glu) c.3142A>G (p.Lys1048Glu) c.3007A>G (p.Lys1003Glu) c.3085A>G (p.Lys1029Glu) c.2884A>G (p.Lys962Glu) c.2983A>G (p.Lys995Glu) c.3313A>G (p.Lys1105Glu) c.3118A>G (p.Lys1040Glu) c.3091A>G (p.Lys1031Glu) c.3070A>G (p.Lys1024Glu) c.3043A>G (p.Lys1015Glu) c.3241A>G (p.Lys1081Glu) c.832A>G (p.Lys278Glu) c.2686A>G (p.Lys896Glu) c.796A>G (p.Lys266Glu) c.3214A>G (p.Lys1072Glu) c.3067A>G (p.Lys1023Glu) c.2776A>G (p.Lys926Glu) c.2926A>G (p.Lys976Glu) n.116A>G c.305A>G c.3181A>G (p.Lys1061Glu) c.3301A>G (p.Lys1101Glu) c.3265A>G (p.Lys1089Glu) c.3355A>G (p.Lys1119Glu) c.3319A>G (p.Lys1107Glu) c.3295A>G (p.Lys1099Glu) c.3340A>G (p.Lys1114Glu) c.3280A>G (p.Lys1094Glu) c.3247A>G (p.Lys1083Glu) c.3310A>G (p.Lys1104Glu) c.3166A>G (p.Lys1056Glu) c.3346A>G (p.Lys1116Glu) c.3238A>G (p.Lys1080Glu) c.3202A>G (p.Lys1068Glu) c.3217A>G (p.Lys1073Glu) c.3127A>G (p.Lys1043Glu) c.3055A>G (p.Lys1019Glu) c.3139A>G (p.Lys1047Glu) c.2968A>G (p.Lys990Glu) c.3385A>G (p.Lys1129Glu) c.3271A>G (p.Lys1091Glu) c.3253A>G (p.Lys1085Glu) c.3325A>G (p.Lys1109Glu) c.2785A>G (p.Lys929Glu) c.3112A>G (p.Lys1038Glu) c.3133A>G (p.Lys1045Glu) | ClinVar dbSNP gnomAD v4 |
4 | g.113333097A>T | CA357935990 | ANK2 | c.3409A>T (p.Lys1137Ter) c.3349A>T (p.Lys1117Ter) n.1451A>T n.905A>T n.113A>T n.6531A>T n.4905A>T n.25A>T n.884A>T n.2281A>T n.1648A>T n.994A>T n.1412A>T n.1863A>T c.3268A>T (p.Lys1090Ter) c.3106A>T (p.Lys1036Ter) c.655A>T (p.Lys219Ter) c.3082A>T (p.Lys1028Ter) c.3169A>T (p.Lys1057Ter) c.3304A>T (p.Lys1102Ter) c.3205A>T (p.Lys1069Ter) c.3142A>T (p.Lys1048Ter) c.3007A>T (p.Lys1003Ter) c.3085A>T (p.Lys1029Ter) c.2884A>T (p.Lys962Ter) c.2983A>T (p.Lys995Ter) c.3313A>T (p.Lys1105Ter) c.3118A>T (p.Lys1040Ter) c.3091A>T (p.Lys1031Ter) c.3070A>T (p.Lys1024Ter) c.3043A>T (p.Lys1015Ter) c.3241A>T (p.Lys1081Ter) c.832A>T (p.Lys278Ter) c.2686A>T (p.Lys896Ter) c.796A>T (p.Lys266Ter) c.3214A>T (p.Lys1072Ter) c.3067A>T (p.Lys1023Ter) c.2776A>T (p.Lys926Ter) c.2926A>T (p.Lys976Ter) n.116A>T c.305A>T c.3181A>T (p.Lys1061Ter) c.3301A>T (p.Lys1101Ter) c.3265A>T (p.Lys1089Ter) c.3355A>T (p.Lys1119Ter) c.3319A>T (p.Lys1107Ter) c.3295A>T (p.Lys1099Ter) c.3340A>T (p.Lys1114Ter) c.3280A>T (p.Lys1094Ter) c.3247A>T (p.Lys1083Ter) c.3310A>T (p.Lys1104Ter) c.3166A>T (p.Lys1056Ter) c.3346A>T (p.Lys1116Ter) c.3238A>T (p.Lys1080Ter) c.3202A>T (p.Lys1068Ter) c.3217A>T (p.Lys1073Ter) c.3127A>T (p.Lys1043Ter) c.3055A>T (p.Lys1019Ter) c.3139A>T (p.Lys1047Ter) c.2968A>T (p.Lys990Ter) c.3385A>T (p.Lys1129Ter) c.3271A>T (p.Lys1091Ter) c.3253A>T (p.Lys1085Ter) c.3325A>T (p.Lys1109Ter) c.2785A>T (p.Lys929Ter) c.3112A>T (p.Lys1038Ter) c.3133A>T (p.Lys1045Ter) | dbSNP |
4 | g.113333098A>C | CA357935996 | ANK2 | c.3410A>C (p.Lys1137Thr) c.3350A>C (p.Lys1117Thr) n.1452A>C n.906A>C n.114A>C n.6532A>C n.4906A>C n.26A>C n.885A>C n.2282A>C n.1649A>C n.995A>C n.1413A>C n.1864A>C c.3269A>C (p.Lys1090Thr) c.3107A>C (p.Lys1036Thr) c.656A>C (p.Lys219Thr) c.3083A>C (p.Lys1028Thr) c.3170A>C (p.Lys1057Thr) c.3305A>C (p.Lys1102Thr) c.3206A>C (p.Lys1069Thr) c.3143A>C (p.Lys1048Thr) c.3008A>C (p.Lys1003Thr) c.3086A>C (p.Lys1029Thr) c.2885A>C (p.Lys962Thr) c.2984A>C (p.Lys995Thr) c.3314A>C (p.Lys1105Thr) c.3119A>C (p.Lys1040Thr) c.3092A>C (p.Lys1031Thr) c.3071A>C (p.Lys1024Thr) c.3044A>C (p.Lys1015Thr) c.3242A>C (p.Lys1081Thr) c.833A>C (p.Lys278Thr) c.2687A>C (p.Lys896Thr) c.797A>C (p.Lys266Thr) c.3215A>C (p.Lys1072Thr) c.3068A>C (p.Lys1023Thr) c.2777A>C (p.Lys926Thr) c.2927A>C (p.Lys976Thr) n.117A>C c.306A>C c.3182A>C (p.Lys1061Thr) c.3302A>C (p.Lys1101Thr) c.3266A>C (p.Lys1089Thr) c.3356A>C (p.Lys1119Thr) c.3320A>C (p.Lys1107Thr) c.3296A>C (p.Lys1099Thr) c.3341A>C (p.Lys1114Thr) c.3281A>C (p.Lys1094Thr) c.3248A>C (p.Lys1083Thr) c.3311A>C (p.Lys1104Thr) c.3167A>C (p.Lys1056Thr) c.3347A>C (p.Lys1116Thr) c.3239A>C (p.Lys1080Thr) c.3203A>C (p.Lys1068Thr) c.3218A>C (p.Lys1073Thr) c.3128A>C (p.Lys1043Thr) c.3056A>C (p.Lys1019Thr) c.3140A>C (p.Lys1047Thr) c.2969A>C (p.Lys990Thr) c.3386A>C (p.Lys1129Thr) c.3272A>C (p.Lys1091Thr) c.3254A>C (p.Lys1085Thr) c.3326A>C (p.Lys1109Thr) c.2786A>C (p.Lys929Thr) c.3113A>C (p.Lys1038Thr) c.3134A>C (p.Lys1045Thr) | |
4 | g.113333098A>G | CA357935998 | ANK2 | c.3410A>G (p.Lys1137Arg) c.3350A>G (p.Lys1117Arg) n.1452A>G n.906A>G n.114A>G n.6532A>G n.4906A>G n.26A>G n.885A>G n.2282A>G n.1649A>G n.995A>G n.1413A>G n.1864A>G c.3269A>G (p.Lys1090Arg) c.3107A>G (p.Lys1036Arg) c.656A>G (p.Lys219Arg) c.3083A>G (p.Lys1028Arg) c.3170A>G (p.Lys1057Arg) c.3305A>G (p.Lys1102Arg) c.3206A>G (p.Lys1069Arg) c.3143A>G (p.Lys1048Arg) c.3008A>G (p.Lys1003Arg) c.3086A>G (p.Lys1029Arg) c.2885A>G (p.Lys962Arg) c.2984A>G (p.Lys995Arg) c.3314A>G (p.Lys1105Arg) c.3119A>G (p.Lys1040Arg) c.3092A>G (p.Lys1031Arg) c.3071A>G (p.Lys1024Arg) c.3044A>G (p.Lys1015Arg) c.3242A>G (p.Lys1081Arg) c.833A>G (p.Lys278Arg) c.2687A>G (p.Lys896Arg) c.797A>G (p.Lys266Arg) c.3215A>G (p.Lys1072Arg) c.3068A>G (p.Lys1023Arg) c.2777A>G (p.Lys926Arg) c.2927A>G (p.Lys976Arg) n.117A>G c.306A>G c.3182A>G (p.Lys1061Arg) c.3302A>G (p.Lys1101Arg) c.3266A>G (p.Lys1089Arg) c.3356A>G (p.Lys1119Arg) c.3320A>G (p.Lys1107Arg) c.3296A>G (p.Lys1099Arg) c.3341A>G (p.Lys1114Arg) c.3281A>G (p.Lys1094Arg) c.3248A>G (p.Lys1083Arg) c.3311A>G (p.Lys1104Arg) c.3167A>G (p.Lys1056Arg) c.3347A>G (p.Lys1116Arg) c.3239A>G (p.Lys1080Arg) c.3203A>G (p.Lys1068Arg) c.3218A>G (p.Lys1073Arg) c.3128A>G (p.Lys1043Arg) c.3056A>G (p.Lys1019Arg) c.3140A>G (p.Lys1047Arg) c.2969A>G (p.Lys990Arg) c.3386A>G (p.Lys1129Arg) c.3272A>G (p.Lys1091Arg) c.3254A>G (p.Lys1085Arg) c.3326A>G (p.Lys1109Arg) c.2786A>G (p.Lys929Arg) c.3113A>G (p.Lys1038Arg) c.3134A>G (p.Lys1045Arg) | dbSNP gnomAD v4 |
4 | g.113333098A>T | CA357935999 | ANK2 | c.3410A>T (p.Lys1137Met) c.3350A>T (p.Lys1117Met) n.1452A>T n.906A>T n.114A>T n.6532A>T n.4906A>T n.26A>T n.885A>T n.2282A>T n.1649A>T n.995A>T n.1413A>T n.1864A>T c.3269A>T (p.Lys1090Met) c.3107A>T (p.Lys1036Met) c.656A>T (p.Lys219Met) c.3083A>T (p.Lys1028Met) c.3170A>T (p.Lys1057Met) c.3305A>T (p.Lys1102Met) c.3206A>T (p.Lys1069Met) c.3143A>T (p.Lys1048Met) c.3008A>T (p.Lys1003Met) c.3086A>T (p.Lys1029Met) c.2885A>T (p.Lys962Met) c.2984A>T (p.Lys995Met) c.3314A>T (p.Lys1105Met) c.3119A>T (p.Lys1040Met) c.3092A>T (p.Lys1031Met) c.3071A>T (p.Lys1024Met) c.3044A>T (p.Lys1015Met) c.3242A>T (p.Lys1081Met) c.833A>T (p.Lys278Met) c.2687A>T (p.Lys896Met) c.797A>T (p.Lys266Met) c.3215A>T (p.Lys1072Met) c.3068A>T (p.Lys1023Met) c.2777A>T (p.Lys926Met) c.2927A>T (p.Lys976Met) n.117A>T c.306A>T c.3182A>T (p.Lys1061Met) c.3302A>T (p.Lys1101Met) c.3266A>T (p.Lys1089Met) c.3356A>T (p.Lys1119Met) c.3320A>T (p.Lys1107Met) c.3296A>T (p.Lys1099Met) c.3341A>T (p.Lys1114Met) c.3281A>T (p.Lys1094Met) c.3248A>T (p.Lys1083Met) c.3311A>T (p.Lys1104Met) c.3167A>T (p.Lys1056Met) c.3347A>T (p.Lys1116Met) c.3239A>T (p.Lys1080Met) c.3203A>T (p.Lys1068Met) c.3218A>T (p.Lys1073Met) c.3128A>T (p.Lys1043Met) c.3056A>T (p.Lys1019Met) c.3140A>T (p.Lys1047Met) c.2969A>T (p.Lys990Met) c.3386A>T (p.Lys1129Met) c.3272A>T (p.Lys1091Met) c.3254A>T (p.Lys1085Met) c.3326A>T (p.Lys1109Met) c.2786A>T (p.Lys929Met) c.3113A>T (p.Lys1038Met) c.3134A>T (p.Lys1045Met) | dbSNP |
4 | g.113333099G>A | CA10619943 | ANK2 | c.3411G>A (p.Lys1137=) c.3351G>A (p.Lys1117=) n.1453G>A n.907G>A n.115G>A n.6533G>A n.4907G>A n.27G>A n.886G>A n.2283G>A n.1650G>A n.996G>A n.1414G>A n.1865G>A c.3270G>A (p.Lys1090=) c.3108G>A (p.Lys1036=) c.657G>A (p.Lys219=) c.3084G>A (p.Lys1028=) c.3171G>A (p.Lys1057=) c.3306G>A (p.Lys1102=) c.3207G>A (p.Lys1069=) c.3144G>A (p.Lys1048=) c.3009G>A (p.Lys1003=) c.3087G>A (p.Lys1029=) c.2886G>A (p.Lys962=) c.2985G>A (p.Lys995=) c.3315G>A (p.Lys1105=) c.3120G>A (p.Lys1040=) c.3093G>A (p.Lys1031=) c.3072G>A (p.Lys1024=) c.3045G>A (p.Lys1015=) c.3243G>A (p.Lys1081=) c.834G>A (p.Lys278=) c.2688G>A (p.Lys896=) c.798G>A (p.Lys266=) c.3216G>A (p.Lys1072=) c.3069G>A (p.Lys1023=) c.2778G>A (p.Lys926=) c.2928G>A (p.Lys976=) n.118G>A c.307G>A c.3183G>A (p.Lys1061=) c.3303G>A (p.Lys1101=) c.3267G>A (p.Lys1089=) c.3357G>A (p.Lys1119=) c.3321G>A (p.Lys1107=) c.3297G>A (p.Lys1099=) c.3342G>A (p.Lys1114=) c.3282G>A (p.Lys1094=) c.3249G>A (p.Lys1083=) c.3312G>A (p.Lys1104=) c.3168G>A (p.Lys1056=) c.3348G>A (p.Lys1116=) c.3240G>A (p.Lys1080=) c.3204G>A (p.Lys1068=) c.3219G>A (p.Lys1073=) c.3129G>A (p.Lys1043=) c.3057G>A (p.Lys1019=) c.3141G>A (p.Lys1047=) c.2970G>A (p.Lys990=) c.3387G>A (p.Lys1129=) c.3273G>A (p.Lys1091=) c.3255G>A (p.Lys1085=) c.3327G>A (p.Lys1109=) c.2787G>A (p.Lys929=) c.3114G>A (p.Lys1038=) c.3135G>A (p.Lys1045=) | ClinVar dbSNP |
4 | g.113333099G>C | CA357936003 | ANK2 | c.3411G>C (p.Lys1137Asn) c.3351G>C (p.Lys1117Asn) n.1453G>C n.907G>C n.115G>C n.6533G>C n.4907G>C n.27G>C n.886G>C n.2283G>C n.1650G>C n.996G>C n.1414G>C n.1865G>C c.3270G>C (p.Lys1090Asn) c.3108G>C (p.Lys1036Asn) c.657G>C (p.Lys219Asn) c.3084G>C (p.Lys1028Asn) c.3171G>C (p.Lys1057Asn) c.3306G>C (p.Lys1102Asn) c.3207G>C (p.Lys1069Asn) c.3144G>C (p.Lys1048Asn) c.3009G>C (p.Lys1003Asn) c.3087G>C (p.Lys1029Asn) c.2886G>C (p.Lys962Asn) c.2985G>C (p.Lys995Asn) c.3315G>C (p.Lys1105Asn) c.3120G>C (p.Lys1040Asn) c.3093G>C (p.Lys1031Asn) c.3072G>C (p.Lys1024Asn) c.3045G>C (p.Lys1015Asn) c.3243G>C (p.Lys1081Asn) c.834G>C (p.Lys278Asn) c.2688G>C (p.Lys896Asn) c.798G>C (p.Lys266Asn) c.3216G>C (p.Lys1072Asn) c.3069G>C (p.Lys1023Asn) c.2778G>C (p.Lys926Asn) c.2928G>C (p.Lys976Asn) n.118G>C c.307G>C c.3183G>C (p.Lys1061Asn) c.3303G>C (p.Lys1101Asn) c.3267G>C (p.Lys1089Asn) c.3357G>C (p.Lys1119Asn) c.3321G>C (p.Lys1107Asn) c.3297G>C (p.Lys1099Asn) c.3342G>C (p.Lys1114Asn) c.3282G>C (p.Lys1094Asn) c.3249G>C (p.Lys1083Asn) c.3312G>C (p.Lys1104Asn) c.3168G>C (p.Lys1056Asn) c.3348G>C (p.Lys1116Asn) c.3240G>C (p.Lys1080Asn) c.3204G>C (p.Lys1068Asn) c.3219G>C (p.Lys1073Asn) c.3129G>C (p.Lys1043Asn) c.3057G>C (p.Lys1019Asn) c.3141G>C (p.Lys1047Asn) c.2970G>C (p.Lys990Asn) c.3387G>C (p.Lys1129Asn) c.3273G>C (p.Lys1091Asn) c.3255G>C (p.Lys1085Asn) c.3327G>C (p.Lys1109Asn) c.2787G>C (p.Lys929Asn) c.3114G>C (p.Lys1038Asn) c.3135G>C (p.Lys1045Asn) | dbSNP |
4 | g.113333099G>T | CA357936004 | ANK2 | c.3411G>T (p.Lys1137Asn) c.3351G>T (p.Lys1117Asn) n.1453G>T n.907G>T n.115G>T n.6533G>T n.4907G>T n.27G>T n.886G>T n.2283G>T n.1650G>T n.996G>T n.1414G>T n.1865G>T c.3270G>T (p.Lys1090Asn) c.3108G>T (p.Lys1036Asn) c.657G>T (p.Lys219Asn) c.3084G>T (p.Lys1028Asn) c.3171G>T (p.Lys1057Asn) c.3306G>T (p.Lys1102Asn) c.3207G>T (p.Lys1069Asn) c.3144G>T (p.Lys1048Asn) c.3009G>T (p.Lys1003Asn) c.3087G>T (p.Lys1029Asn) c.2886G>T (p.Lys962Asn) c.2985G>T (p.Lys995Asn) c.3315G>T (p.Lys1105Asn) c.3120G>T (p.Lys1040Asn) c.3093G>T (p.Lys1031Asn) c.3072G>T (p.Lys1024Asn) c.3045G>T (p.Lys1015Asn) c.3243G>T (p.Lys1081Asn) c.834G>T (p.Lys278Asn) c.2688G>T (p.Lys896Asn) c.798G>T (p.Lys266Asn) c.3216G>T (p.Lys1072Asn) c.3069G>T (p.Lys1023Asn) c.2778G>T (p.Lys926Asn) c.2928G>T (p.Lys976Asn) n.118G>T c.307G>T c.3183G>T (p.Lys1061Asn) c.3303G>T (p.Lys1101Asn) c.3267G>T (p.Lys1089Asn) c.3357G>T (p.Lys1119Asn) c.3321G>T (p.Lys1107Asn) c.3297G>T (p.Lys1099Asn) c.3342G>T (p.Lys1114Asn) c.3282G>T (p.Lys1094Asn) c.3249G>T (p.Lys1083Asn) c.3312G>T (p.Lys1104Asn) c.3168G>T (p.Lys1056Asn) c.3348G>T (p.Lys1116Asn) c.3240G>T (p.Lys1080Asn) c.3204G>T (p.Lys1068Asn) c.3219G>T (p.Lys1073Asn) c.3129G>T (p.Lys1043Asn) c.3057G>T (p.Lys1019Asn) c.3141G>T (p.Lys1047Asn) c.2970G>T (p.Lys990Asn) c.3387G>T (p.Lys1129Asn) c.3273G>T (p.Lys1091Asn) c.3255G>T (p.Lys1085Asn) c.3327G>T (p.Lys1109Asn) c.2787G>T (p.Lys929Asn) c.3114G>T (p.Lys1038Asn) c.3135G>T (p.Lys1045Asn) | |
4 | g.113333100G>A | CA357936005 | ANK2 | c.3412G>A (p.Glu1138Lys) c.3352G>A (p.Glu1118Lys) n.1454G>A n.908G>A n.116G>A n.6534G>A n.4908G>A n.28G>A n.887G>A n.2284G>A n.1651G>A n.997G>A n.1415G>A n.1866G>A c.3271G>A (p.Glu1091Lys) c.3109G>A (p.Glu1037Lys) c.658G>A (p.Glu220Lys) c.3085G>A (p.Glu1029Lys) c.3172G>A (p.Glu1058Lys) c.3307G>A (p.Glu1103Lys) c.3208G>A (p.Glu1070Lys) c.3145G>A (p.Glu1049Lys) c.3010G>A (p.Glu1004Lys) c.3088G>A (p.Glu1030Lys) c.2887G>A (p.Glu963Lys) c.2986G>A (p.Glu996Lys) c.3316G>A (p.Glu1106Lys) c.3121G>A (p.Glu1041Lys) c.3094G>A (p.Glu1032Lys) c.3073G>A (p.Glu1025Lys) c.3046G>A (p.Glu1016Lys) c.3244G>A (p.Glu1082Lys) c.835G>A (p.Glu279Lys) c.2689G>A (p.Glu897Lys) c.799G>A (p.Glu267Lys) c.3217G>A (p.Glu1073Lys) c.3070G>A (p.Glu1024Lys) c.2779G>A (p.Glu927Lys) c.2929G>A (p.Glu977Lys) n.119G>A c.308G>A c.3184G>A (p.Glu1062Lys) c.3304G>A (p.Glu1102Lys) c.3268G>A (p.Glu1090Lys) c.3358G>A (p.Glu1120Lys) c.3322G>A (p.Glu1108Lys) c.3298G>A (p.Glu1100Lys) c.3343G>A (p.Glu1115Lys) c.3283G>A (p.Glu1095Lys) c.3250G>A (p.Glu1084Lys) c.3313G>A (p.Glu1105Lys) c.3169G>A (p.Glu1057Lys) c.3349G>A (p.Glu1117Lys) c.3241G>A (p.Glu1081Lys) c.3205G>A (p.Glu1069Lys) c.3220G>A (p.Glu1074Lys) c.3130G>A (p.Glu1044Lys) c.3058G>A (p.Glu1020Lys) c.3142G>A (p.Glu1048Lys) c.2971G>A (p.Glu991Lys) c.3388G>A (p.Glu1130Lys) c.3274G>A (p.Glu1092Lys) c.3256G>A (p.Glu1086Lys) c.3328G>A (p.Glu1110Lys) c.2788G>A (p.Glu930Lys) c.3115G>A (p.Glu1039Lys) c.3136G>A (p.Glu1046Lys) | dbSNP |
4 | g.113333100G>C | CA357936007 | ANK2 | c.3412G>C (p.Glu1138Gln) c.3352G>C (p.Glu1118Gln) n.1454G>C n.908G>C n.116G>C n.6534G>C n.4908G>C n.28G>C n.887G>C n.2284G>C n.1651G>C n.997G>C n.1415G>C n.1866G>C c.3271G>C (p.Glu1091Gln) c.3109G>C (p.Glu1037Gln) c.658G>C (p.Glu220Gln) c.3085G>C (p.Glu1029Gln) c.3172G>C (p.Glu1058Gln) c.3307G>C (p.Glu1103Gln) c.3208G>C (p.Glu1070Gln) c.3145G>C (p.Glu1049Gln) c.3010G>C (p.Glu1004Gln) c.3088G>C (p.Glu1030Gln) c.2887G>C (p.Glu963Gln) c.2986G>C (p.Glu996Gln) c.3316G>C (p.Glu1106Gln) c.3121G>C (p.Glu1041Gln) c.3094G>C (p.Glu1032Gln) c.3073G>C (p.Glu1025Gln) c.3046G>C (p.Glu1016Gln) c.3244G>C (p.Glu1082Gln) c.835G>C (p.Glu279Gln) c.2689G>C (p.Glu897Gln) c.799G>C (p.Glu267Gln) c.3217G>C (p.Glu1073Gln) c.3070G>C (p.Glu1024Gln) c.2779G>C (p.Glu927Gln) c.2929G>C (p.Glu977Gln) n.119G>C c.308G>C c.3184G>C (p.Glu1062Gln) c.3304G>C (p.Glu1102Gln) c.3268G>C (p.Glu1090Gln) c.3358G>C (p.Glu1120Gln) c.3322G>C (p.Glu1108Gln) c.3298G>C (p.Glu1100Gln) c.3343G>C (p.Glu1115Gln) c.3283G>C (p.Glu1095Gln) c.3250G>C (p.Glu1084Gln) c.3313G>C (p.Glu1105Gln) c.3169G>C (p.Glu1057Gln) c.3349G>C (p.Glu1117Gln) c.3241G>C (p.Glu1081Gln) c.3205G>C (p.Glu1069Gln) c.3220G>C (p.Glu1074Gln) c.3130G>C (p.Glu1044Gln) c.3058G>C (p.Glu1020Gln) c.3142G>C (p.Glu1048Gln) c.2971G>C (p.Glu991Gln) c.3388G>C (p.Glu1130Gln) c.3274G>C (p.Glu1092Gln) c.3256G>C (p.Glu1086Gln) c.3328G>C (p.Glu1110Gln) c.2788G>C (p.Glu930Gln) c.3115G>C (p.Glu1039Gln) c.3136G>C (p.Glu1046Gln) | |
4 | g.113333100G>T | CA357936008 | ANK2 | c.3412G>T (p.Glu1138Ter) c.3352G>T (p.Glu1118Ter) n.1454G>T n.908G>T n.116G>T n.6534G>T n.4908G>T n.28G>T n.887G>T n.2284G>T n.1651G>T n.997G>T n.1415G>T n.1866G>T c.3271G>T (p.Glu1091Ter) c.3109G>T (p.Glu1037Ter) c.658G>T (p.Glu220Ter) c.3085G>T (p.Glu1029Ter) c.3172G>T (p.Glu1058Ter) c.3307G>T (p.Glu1103Ter) c.3208G>T (p.Glu1070Ter) c.3145G>T (p.Glu1049Ter) c.3010G>T (p.Glu1004Ter) c.3088G>T (p.Glu1030Ter) c.2887G>T (p.Glu963Ter) c.2986G>T (p.Glu996Ter) c.3316G>T (p.Glu1106Ter) c.3121G>T (p.Glu1041Ter) c.3094G>T (p.Glu1032Ter) c.3073G>T (p.Glu1025Ter) c.3046G>T (p.Glu1016Ter) c.3244G>T (p.Glu1082Ter) c.835G>T (p.Glu279Ter) c.2689G>T (p.Glu897Ter) c.799G>T (p.Glu267Ter) c.3217G>T (p.Glu1073Ter) c.3070G>T (p.Glu1024Ter) c.2779G>T (p.Glu927Ter) c.2929G>T (p.Glu977Ter) n.119G>T c.308G>T c.3184G>T (p.Glu1062Ter) c.3304G>T (p.Glu1102Ter) c.3268G>T (p.Glu1090Ter) c.3358G>T (p.Glu1120Ter) c.3322G>T (p.Glu1108Ter) c.3298G>T (p.Glu1100Ter) c.3343G>T (p.Glu1115Ter) c.3283G>T (p.Glu1095Ter) c.3250G>T (p.Glu1084Ter) c.3313G>T (p.Glu1105Ter) c.3169G>T (p.Glu1057Ter) c.3349G>T (p.Glu1117Ter) c.3241G>T (p.Glu1081Ter) c.3205G>T (p.Glu1069Ter) c.3220G>T (p.Glu1074Ter) c.3130G>T (p.Glu1044Ter) c.3058G>T (p.Glu1020Ter) c.3142G>T (p.Glu1048Ter) c.2971G>T (p.Glu991Ter) c.3388G>T (p.Glu1130Ter) c.3274G>T (p.Glu1092Ter) c.3256G>T (p.Glu1086Ter) c.3328G>T (p.Glu1110Ter) c.2788G>T (p.Glu930Ter) c.3115G>T (p.Glu1039Ter) c.3136G>T (p.Glu1046Ter) | |
4 | g.113333101A>C | CA357936010 | ANK2 | c.3413A>C (p.Glu1138Ala) c.3353A>C (p.Glu1118Ala) n.1455A>C n.909A>C n.117A>C n.6535A>C n.4909A>C n.29A>C n.888A>C n.2285A>C n.1652A>C n.998A>C n.1416A>C n.1867A>C c.3272A>C (p.Glu1091Ala) c.3110A>C (p.Glu1037Ala) c.659A>C (p.Glu220Ala) c.3086A>C (p.Glu1029Ala) c.3173A>C (p.Glu1058Ala) c.3308A>C (p.Glu1103Ala) c.3209A>C (p.Glu1070Ala) c.3146A>C (p.Glu1049Ala) c.3011A>C (p.Glu1004Ala) c.3089A>C (p.Glu1030Ala) c.2888A>C (p.Glu963Ala) c.2987A>C (p.Glu996Ala) c.3317A>C (p.Glu1106Ala) c.3122A>C (p.Glu1041Ala) c.3095A>C (p.Glu1032Ala) c.3074A>C (p.Glu1025Ala) c.3047A>C (p.Glu1016Ala) c.3245A>C (p.Glu1082Ala) c.836A>C (p.Glu279Ala) c.2690A>C (p.Glu897Ala) c.800A>C (p.Glu267Ala) c.3218A>C (p.Glu1073Ala) c.3071A>C (p.Glu1024Ala) c.2780A>C (p.Glu927Ala) c.2930A>C (p.Glu977Ala) n.120A>C c.309A>C c.3185A>C (p.Glu1062Ala) c.3305A>C (p.Glu1102Ala) c.3269A>C (p.Glu1090Ala) c.3359A>C (p.Glu1120Ala) c.3323A>C (p.Glu1108Ala) c.3299A>C (p.Glu1100Ala) c.3344A>C (p.Glu1115Ala) c.3284A>C (p.Glu1095Ala) c.3251A>C (p.Glu1084Ala) c.3314A>C (p.Glu1105Ala) c.3170A>C (p.Glu1057Ala) c.3350A>C (p.Glu1117Ala) c.3242A>C (p.Glu1081Ala) c.3206A>C (p.Glu1069Ala) c.3221A>C (p.Glu1074Ala) c.3131A>C (p.Glu1044Ala) c.3059A>C (p.Glu1020Ala) c.3143A>C (p.Glu1048Ala) c.2972A>C (p.Glu991Ala) c.3389A>C (p.Glu1130Ala) c.3275A>C (p.Glu1092Ala) c.3257A>C (p.Glu1086Ala) c.3329A>C (p.Glu1110Ala) c.2789A>C (p.Glu930Ala) c.3116A>C (p.Glu1039Ala) c.3137A>C (p.Glu1046Ala) | |
4 | g.113333101A>G | CA357936012 | ANK2 | c.3413A>G (p.Glu1138Gly) c.3353A>G (p.Glu1118Gly) n.1455A>G n.909A>G n.117A>G n.6535A>G n.4909A>G n.29A>G n.888A>G n.2285A>G n.1652A>G n.998A>G n.1416A>G n.1867A>G c.3272A>G (p.Glu1091Gly) c.3110A>G (p.Glu1037Gly) c.659A>G (p.Glu220Gly) c.3086A>G (p.Glu1029Gly) c.3173A>G (p.Glu1058Gly) c.3308A>G (p.Glu1103Gly) c.3209A>G (p.Glu1070Gly) c.3146A>G (p.Glu1049Gly) c.3011A>G (p.Glu1004Gly) c.3089A>G (p.Glu1030Gly) c.2888A>G (p.Glu963Gly) c.2987A>G (p.Glu996Gly) c.3317A>G (p.Glu1106Gly) c.3122A>G (p.Glu1041Gly) c.3095A>G (p.Glu1032Gly) c.3074A>G (p.Glu1025Gly) c.3047A>G (p.Glu1016Gly) c.3245A>G (p.Glu1082Gly) c.836A>G (p.Glu279Gly) c.2690A>G (p.Glu897Gly) c.800A>G (p.Glu267Gly) c.3218A>G (p.Glu1073Gly) c.3071A>G (p.Glu1024Gly) c.2780A>G (p.Glu927Gly) c.2930A>G (p.Glu977Gly) n.120A>G c.309A>G c.3185A>G (p.Glu1062Gly) c.3305A>G (p.Glu1102Gly) c.3269A>G (p.Glu1090Gly) c.3359A>G (p.Glu1120Gly) c.3323A>G (p.Glu1108Gly) c.3299A>G (p.Glu1100Gly) c.3344A>G (p.Glu1115Gly) c.3284A>G (p.Glu1095Gly) c.3251A>G (p.Glu1084Gly) c.3314A>G (p.Glu1105Gly) c.3170A>G (p.Glu1057Gly) c.3350A>G (p.Glu1117Gly) c.3242A>G (p.Glu1081Gly) c.3206A>G (p.Glu1069Gly) c.3221A>G (p.Glu1074Gly) c.3131A>G (p.Glu1044Gly) c.3059A>G (p.Glu1020Gly) c.3143A>G (p.Glu1048Gly) c.2972A>G (p.Glu991Gly) c.3389A>G (p.Glu1130Gly) c.3275A>G (p.Glu1092Gly) c.3257A>G (p.Glu1086Gly) c.3329A>G (p.Glu1110Gly) c.2789A>G (p.Glu930Gly) c.3116A>G (p.Glu1039Gly) c.3137A>G (p.Glu1046Gly) | dbSNP |
4 | g.113333101A>T | CA357936015 | ANK2 | c.3413A>T (p.Glu1138Val) c.3353A>T (p.Glu1118Val) n.1455A>T n.909A>T n.117A>T n.6535A>T n.4909A>T n.29A>T n.888A>T n.2285A>T n.1652A>T n.998A>T n.1416A>T n.1867A>T c.3272A>T (p.Glu1091Val) c.3110A>T (p.Glu1037Val) c.659A>T (p.Glu220Val) c.3086A>T (p.Glu1029Val) c.3173A>T (p.Glu1058Val) c.3308A>T (p.Glu1103Val) c.3209A>T (p.Glu1070Val) c.3146A>T (p.Glu1049Val) c.3011A>T (p.Glu1004Val) c.3089A>T (p.Glu1030Val) c.2888A>T (p.Glu963Val) c.2987A>T (p.Glu996Val) c.3317A>T (p.Glu1106Val) c.3122A>T (p.Glu1041Val) c.3095A>T (p.Glu1032Val) c.3074A>T (p.Glu1025Val) c.3047A>T (p.Glu1016Val) c.3245A>T (p.Glu1082Val) c.836A>T (p.Glu279Val) c.2690A>T (p.Glu897Val) c.800A>T (p.Glu267Val) c.3218A>T (p.Glu1073Val) c.3071A>T (p.Glu1024Val) c.2780A>T (p.Glu927Val) c.2930A>T (p.Glu977Val) n.120A>T c.309A>T c.3185A>T (p.Glu1062Val) c.3305A>T (p.Glu1102Val) c.3269A>T (p.Glu1090Val) c.3359A>T (p.Glu1120Val) c.3323A>T (p.Glu1108Val) c.3299A>T (p.Glu1100Val) c.3344A>T (p.Glu1115Val) c.3284A>T (p.Glu1095Val) c.3251A>T (p.Glu1084Val) c.3314A>T (p.Glu1105Val) c.3170A>T (p.Glu1057Val) c.3350A>T (p.Glu1117Val) c.3242A>T (p.Glu1081Val) c.3206A>T (p.Glu1069Val) c.3221A>T (p.Glu1074Val) c.3131A>T (p.Glu1044Val) c.3059A>T (p.Glu1020Val) c.3143A>T (p.Glu1048Val) c.2972A>T (p.Glu991Val) c.3389A>T (p.Glu1130Val) c.3275A>T (p.Glu1092Val) c.3257A>T (p.Glu1086Val) c.3329A>T (p.Glu1110Val) c.2789A>T (p.Glu930Val) c.3116A>T (p.Glu1039Val) c.3137A>T (p.Glu1046Val) | dbSNP |
4 | g.113333102A>C | CA357936019 | ANK2 | c.3414A>C (p.Glu1138Asp) c.3354A>C (p.Glu1118Asp) n.1456A>C n.910A>C n.118A>C n.6536A>C n.4910A>C n.30A>C n.889A>C n.2286A>C n.1653A>C n.999A>C n.1417A>C n.1868A>C c.3273A>C (p.Glu1091Asp) c.3111A>C (p.Glu1037Asp) c.660A>C (p.Glu220Asp) c.3087A>C (p.Glu1029Asp) c.3174A>C (p.Glu1058Asp) c.3309A>C (p.Glu1103Asp) c.3210A>C (p.Glu1070Asp) c.3147A>C (p.Glu1049Asp) c.3012A>C (p.Glu1004Asp) c.3090A>C (p.Glu1030Asp) c.2889A>C (p.Glu963Asp) c.2988A>C (p.Glu996Asp) c.3318A>C (p.Glu1106Asp) c.3123A>C (p.Glu1041Asp) c.3096A>C (p.Glu1032Asp) c.3075A>C (p.Glu1025Asp) c.3048A>C (p.Glu1016Asp) c.3246A>C (p.Glu1082Asp) c.837A>C (p.Glu279Asp) c.2691A>C (p.Glu897Asp) c.801A>C (p.Glu267Asp) c.3219A>C (p.Glu1073Asp) c.3072A>C (p.Glu1024Asp) c.2781A>C (p.Glu927Asp) c.2931A>C (p.Glu977Asp) n.121A>C c.310A>C c.3186A>C (p.Glu1062Asp) c.3306A>C (p.Glu1102Asp) c.3270A>C (p.Glu1090Asp) c.3360A>C (p.Glu1120Asp) c.3324A>C (p.Glu1108Asp) c.3300A>C (p.Glu1100Asp) c.3345A>C (p.Glu1115Asp) c.3285A>C (p.Glu1095Asp) c.3252A>C (p.Glu1084Asp) c.3315A>C (p.Glu1105Asp) c.3171A>C (p.Glu1057Asp) c.3351A>C (p.Glu1117Asp) c.3243A>C (p.Glu1081Asp) c.3207A>C (p.Glu1069Asp) c.3222A>C (p.Glu1074Asp) c.3132A>C (p.Glu1044Asp) c.3060A>C (p.Glu1020Asp) c.3144A>C (p.Glu1048Asp) c.2973A>C (p.Glu991Asp) c.3390A>C (p.Glu1130Asp) c.3276A>C (p.Glu1092Asp) c.3258A>C (p.Glu1086Asp) c.3330A>C (p.Glu1110Asp) c.2790A>C (p.Glu930Asp) c.3117A>C (p.Glu1039Asp) c.3138A>C (p.Glu1046Asp) | |
4 | g.113333102A>G | CA440842839 | ANK2 | c.3414A>G (p.Glu1138=) c.3354A>G (p.Glu1118=) n.1456A>G n.910A>G n.118A>G n.6536A>G n.4910A>G n.30A>G n.889A>G n.2286A>G n.1653A>G n.999A>G n.1417A>G n.1868A>G c.3273A>G (p.Glu1091=) c.3111A>G (p.Glu1037=) c.660A>G (p.Glu220=) c.3087A>G (p.Glu1029=) c.3174A>G (p.Glu1058=) c.3309A>G (p.Glu1103=) c.3210A>G (p.Glu1070=) c.3147A>G (p.Glu1049=) c.3012A>G (p.Glu1004=) c.3090A>G (p.Glu1030=) c.2889A>G (p.Glu963=) c.2988A>G (p.Glu996=) c.3318A>G (p.Glu1106=) c.3123A>G (p.Glu1041=) c.3096A>G (p.Glu1032=) c.3075A>G (p.Glu1025=) c.3048A>G (p.Glu1016=) c.3246A>G (p.Glu1082=) c.837A>G (p.Glu279=) c.2691A>G (p.Glu897=) c.801A>G (p.Glu267=) c.3219A>G (p.Glu1073=) c.3072A>G (p.Glu1024=) c.2781A>G (p.Glu927=) c.2931A>G (p.Glu977=) n.121A>G c.310A>G c.3186A>G (p.Glu1062=) c.3306A>G (p.Glu1102=) c.3270A>G (p.Glu1090=) c.3360A>G (p.Glu1120=) c.3324A>G (p.Glu1108=) c.3300A>G (p.Glu1100=) c.3345A>G (p.Glu1115=) c.3285A>G (p.Glu1095=) c.3252A>G (p.Glu1084=) c.3315A>G (p.Glu1105=) c.3171A>G (p.Glu1057=) c.3351A>G (p.Glu1117=) c.3243A>G (p.Glu1081=) c.3207A>G (p.Glu1069=) c.3222A>G (p.Glu1074=) c.3132A>G (p.Glu1044=) c.3060A>G (p.Glu1020=) c.3144A>G (p.Glu1048=) c.2973A>G (p.Glu991=) c.3390A>G (p.Glu1130=) c.3276A>G (p.Glu1092=) c.3258A>G (p.Glu1086=) c.3330A>G (p.Glu1110=) c.2790A>G (p.Glu930=) c.3117A>G (p.Glu1039=) c.3138A>G (p.Glu1046=) | ClinVar dbSNP gnomAD v4 |
4 | g.113333102A>T | CA357936017 | ANK2 | c.3414A>T (p.Glu1138Asp) c.3354A>T (p.Glu1118Asp) n.1456A>T n.910A>T n.118A>T n.6536A>T n.4910A>T n.30A>T n.889A>T n.2286A>T n.1653A>T n.999A>T n.1417A>T n.1868A>T c.3273A>T (p.Glu1091Asp) c.3111A>T (p.Glu1037Asp) c.660A>T (p.Glu220Asp) c.3087A>T (p.Glu1029Asp) c.3174A>T (p.Glu1058Asp) c.3309A>T (p.Glu1103Asp) c.3210A>T (p.Glu1070Asp) c.3147A>T (p.Glu1049Asp) c.3012A>T (p.Glu1004Asp) c.3090A>T (p.Glu1030Asp) c.2889A>T (p.Glu963Asp) c.2988A>T (p.Glu996Asp) c.3318A>T (p.Glu1106Asp) c.3123A>T (p.Glu1041Asp) c.3096A>T (p.Glu1032Asp) c.3075A>T (p.Glu1025Asp) c.3048A>T (p.Glu1016Asp) c.3246A>T (p.Glu1082Asp) c.837A>T (p.Glu279Asp) c.2691A>T (p.Glu897Asp) c.801A>T (p.Glu267Asp) c.3219A>T (p.Glu1073Asp) c.3072A>T (p.Glu1024Asp) c.2781A>T (p.Glu927Asp) c.2931A>T (p.Glu977Asp) n.121A>T c.310A>T c.3186A>T (p.Glu1062Asp) c.3306A>T (p.Glu1102Asp) c.3270A>T (p.Glu1090Asp) c.3360A>T (p.Glu1120Asp) c.3324A>T (p.Glu1108Asp) c.3300A>T (p.Glu1100Asp) c.3345A>T (p.Glu1115Asp) c.3285A>T (p.Glu1095Asp) c.3252A>T (p.Glu1084Asp) c.3315A>T (p.Glu1105Asp) c.3171A>T (p.Glu1057Asp) c.3351A>T (p.Glu1117Asp) c.3243A>T (p.Glu1081Asp) c.3207A>T (p.Glu1069Asp) c.3222A>T (p.Glu1074Asp) c.3132A>T (p.Glu1044Asp) c.3060A>T (p.Glu1020Asp) c.3144A>T (p.Glu1048Asp) c.2973A>T (p.Glu991Asp) c.3390A>T (p.Glu1130Asp) c.3276A>T (p.Glu1092Asp) c.3258A>T (p.Glu1086Asp) c.3330A>T (p.Glu1110Asp) c.2790A>T (p.Glu930Asp) c.3117A>T (p.Glu1039Asp) c.3138A>T (p.Glu1046Asp) | dbSNP |
4 | g.113333103A>C | CA440842840 | ANK2 | c.3415A>C (p.Arg1139=) c.3355A>C (p.Arg1119=) n.1457A>C n.911A>C n.119A>C n.6537A>C n.4911A>C n.31A>C n.890A>C n.2287A>C n.1654A>C n.1000A>C n.1418A>C n.1869A>C c.3274A>C (p.Arg1092=) c.3112A>C (p.Arg1038=) c.661A>C (p.Arg221=) c.3088A>C (p.Arg1030=) c.3175A>C (p.Arg1059=) c.3310A>C (p.Arg1104=) c.3211A>C (p.Arg1071=) c.3148A>C (p.Arg1050=) c.3013A>C (p.Arg1005=) c.3091A>C (p.Arg1031=) c.2890A>C (p.Arg964=) c.2989A>C (p.Arg997=) c.3319A>C (p.Arg1107=) c.3124A>C (p.Arg1042=) c.3097A>C (p.Arg1033=) c.3076A>C (p.Arg1026=) c.3049A>C (p.Arg1017=) c.3247A>C (p.Arg1083=) c.838A>C (p.Arg280=) c.2692A>C (p.Arg898=) c.802A>C (p.Arg268=) c.3220A>C (p.Arg1074=) c.3073A>C (p.Arg1025=) c.2782A>C (p.Arg928=) c.2932A>C (p.Arg978=) n.122A>C c.311A>C c.3187A>C (p.Arg1063=) c.3307A>C (p.Arg1103=) c.3271A>C (p.Arg1091=) c.3361A>C (p.Arg1121=) c.3325A>C (p.Arg1109=) c.3301A>C (p.Arg1101=) c.3346A>C (p.Arg1116=) c.3286A>C (p.Arg1096=) c.3253A>C (p.Arg1085=) c.3316A>C (p.Arg1106=) c.3172A>C (p.Arg1058=) c.3352A>C (p.Arg1118=) c.3244A>C (p.Arg1082=) c.3208A>C (p.Arg1070=) c.3223A>C (p.Arg1075=) c.3133A>C (p.Arg1045=) c.3061A>C (p.Arg1021=) c.3145A>C (p.Arg1049=) c.2974A>C (p.Arg992=) c.3391A>C (p.Arg1131=) c.3277A>C (p.Arg1093=) c.3259A>C (p.Arg1087=) c.3331A>C (p.Arg1111=) c.2791A>C (p.Arg931=) c.3118A>C (p.Arg1040=) c.3139A>C (p.Arg1047=) | ClinVar dbSNP |
4 | g.113333103A>G | CA357936021 | ANK2 | c.3415A>G (p.Arg1139Gly) c.3355A>G (p.Arg1119Gly) n.1457A>G n.911A>G n.119A>G n.6537A>G n.4911A>G n.31A>G n.890A>G n.2287A>G n.1654A>G n.1000A>G n.1418A>G n.1869A>G c.3274A>G (p.Arg1092Gly) c.3112A>G (p.Arg1038Gly) c.661A>G (p.Arg221Gly) c.3088A>G (p.Arg1030Gly) c.3175A>G (p.Arg1059Gly) c.3310A>G (p.Arg1104Gly) c.3211A>G (p.Arg1071Gly) c.3148A>G (p.Arg1050Gly) c.3013A>G (p.Arg1005Gly) c.3091A>G (p.Arg1031Gly) c.2890A>G (p.Arg964Gly) c.2989A>G (p.Arg997Gly) c.3319A>G (p.Arg1107Gly) c.3124A>G (p.Arg1042Gly) c.3097A>G (p.Arg1033Gly) c.3076A>G (p.Arg1026Gly) c.3049A>G (p.Arg1017Gly) c.3247A>G (p.Arg1083Gly) c.838A>G (p.Arg280Gly) c.2692A>G (p.Arg898Gly) c.802A>G (p.Arg268Gly) c.3220A>G (p.Arg1074Gly) c.3073A>G (p.Arg1025Gly) c.2782A>G (p.Arg928Gly) c.2932A>G (p.Arg978Gly) n.122A>G c.311A>G c.3187A>G (p.Arg1063Gly) c.3307A>G (p.Arg1103Gly) c.3271A>G (p.Arg1091Gly) c.3361A>G (p.Arg1121Gly) c.3325A>G (p.Arg1109Gly) c.3301A>G (p.Arg1101Gly) c.3346A>G (p.Arg1116Gly) c.3286A>G (p.Arg1096Gly) c.3253A>G (p.Arg1085Gly) c.3316A>G (p.Arg1106Gly) c.3172A>G (p.Arg1058Gly) c.3352A>G (p.Arg1118Gly) c.3244A>G (p.Arg1082Gly) c.3208A>G (p.Arg1070Gly) c.3223A>G (p.Arg1075Gly) c.3133A>G (p.Arg1045Gly) c.3061A>G (p.Arg1021Gly) c.3145A>G (p.Arg1049Gly) c.2974A>G (p.Arg992Gly) c.3391A>G (p.Arg1131Gly) c.3277A>G (p.Arg1093Gly) c.3259A>G (p.Arg1087Gly) c.3331A>G (p.Arg1111Gly) c.2791A>G (p.Arg931Gly) c.3118A>G (p.Arg1040Gly) c.3139A>G (p.Arg1047Gly) | dbSNP |
4 | g.113333103A>T | CA357936023 | ANK2 | c.3415A>T (p.Arg1139Trp) c.3355A>T (p.Arg1119Trp) n.1457A>T n.911A>T n.119A>T n.6537A>T n.4911A>T n.31A>T n.890A>T n.2287A>T n.1654A>T n.1000A>T n.1418A>T n.1869A>T c.3274A>T (p.Arg1092Trp) c.3112A>T (p.Arg1038Trp) c.661A>T (p.Arg221Trp) c.3088A>T (p.Arg1030Trp) c.3175A>T (p.Arg1059Trp) c.3310A>T (p.Arg1104Trp) c.3211A>T (p.Arg1071Trp) c.3148A>T (p.Arg1050Trp) c.3013A>T (p.Arg1005Trp) c.3091A>T (p.Arg1031Trp) c.2890A>T (p.Arg964Trp) c.2989A>T (p.Arg997Trp) c.3319A>T (p.Arg1107Trp) c.3124A>T (p.Arg1042Trp) c.3097A>T (p.Arg1033Trp) c.3076A>T (p.Arg1026Trp) c.3049A>T (p.Arg1017Trp) c.3247A>T (p.Arg1083Trp) c.838A>T (p.Arg280Trp) c.2692A>T (p.Arg898Trp) c.802A>T (p.Arg268Trp) c.3220A>T (p.Arg1074Trp) c.3073A>T (p.Arg1025Trp) c.2782A>T (p.Arg928Trp) c.2932A>T (p.Arg978Trp) n.122A>T c.311A>T c.3187A>T (p.Arg1063Trp) c.3307A>T (p.Arg1103Trp) c.3271A>T (p.Arg1091Trp) c.3361A>T (p.Arg1121Trp) c.3325A>T (p.Arg1109Trp) c.3301A>T (p.Arg1101Trp) c.3346A>T (p.Arg1116Trp) c.3286A>T (p.Arg1096Trp) c.3253A>T (p.Arg1085Trp) c.3316A>T (p.Arg1106Trp) c.3172A>T (p.Arg1058Trp) c.3352A>T (p.Arg1118Trp) c.3244A>T (p.Arg1082Trp) c.3208A>T (p.Arg1070Trp) c.3223A>T (p.Arg1075Trp) c.3133A>T (p.Arg1045Trp) c.3061A>T (p.Arg1021Trp) c.3145A>T (p.Arg1049Trp) c.2974A>T (p.Arg992Trp) c.3391A>T (p.Arg1131Trp) c.3277A>T (p.Arg1093Trp) c.3259A>T (p.Arg1087Trp) c.3331A>T (p.Arg1111Trp) c.2791A>T (p.Arg931Trp) c.3118A>T (p.Arg1040Trp) c.3139A>T (p.Arg1047Trp) | dbSNP |
4 | g.113333104G>A | CA357936025 | ANK2 | c.3416G>A (p.Arg1139Lys) c.3356G>A (p.Arg1119Lys) n.1458G>A n.912G>A n.120G>A n.6538G>A n.4912G>A n.32G>A n.891G>A n.2288G>A n.1655G>A n.1001G>A n.1419G>A n.1870G>A c.3275G>A (p.Arg1092Lys) c.3113G>A (p.Arg1038Lys) c.662G>A (p.Arg221Lys) c.3089G>A (p.Arg1030Lys) c.3176G>A (p.Arg1059Lys) c.3311G>A (p.Arg1104Lys) c.3212G>A (p.Arg1071Lys) c.3149G>A (p.Arg1050Lys) c.3014G>A (p.Arg1005Lys) c.3092G>A (p.Arg1031Lys) c.2891G>A (p.Arg964Lys) c.2990G>A (p.Arg997Lys) c.3320G>A (p.Arg1107Lys) c.3125G>A (p.Arg1042Lys) c.3098G>A (p.Arg1033Lys) c.3077G>A (p.Arg1026Lys) c.3050G>A (p.Arg1017Lys) c.3248G>A (p.Arg1083Lys) c.839G>A (p.Arg280Lys) c.2693G>A (p.Arg898Lys) c.803G>A (p.Arg268Lys) c.3221G>A (p.Arg1074Lys) c.3074G>A (p.Arg1025Lys) c.2783G>A (p.Arg928Lys) c.2933G>A (p.Arg978Lys) n.123G>A c.312G>A c.3188G>A (p.Arg1063Lys) c.3308G>A (p.Arg1103Lys) c.3272G>A (p.Arg1091Lys) c.3362G>A (p.Arg1121Lys) c.3326G>A (p.Arg1109Lys) c.3302G>A (p.Arg1101Lys) c.3347G>A (p.Arg1116Lys) c.3287G>A (p.Arg1096Lys) c.3254G>A (p.Arg1085Lys) c.3317G>A (p.Arg1106Lys) c.3173G>A (p.Arg1058Lys) c.3353G>A (p.Arg1118Lys) c.3245G>A (p.Arg1082Lys) c.3209G>A (p.Arg1070Lys) c.3224G>A (p.Arg1075Lys) c.3134G>A (p.Arg1045Lys) c.3062G>A (p.Arg1021Lys) c.3146G>A (p.Arg1049Lys) c.2975G>A (p.Arg992Lys) c.3392G>A (p.Arg1131Lys) c.3278G>A (p.Arg1093Lys) c.3260G>A (p.Arg1087Lys) c.3332G>A (p.Arg1111Lys) c.2792G>A (p.Arg931Lys) c.3119G>A (p.Arg1040Lys) c.3140G>A (p.Arg1047Lys) | |
4 | g.113333104G>C | CA357936027 | ANK2 | c.3416G>C (p.Arg1139Thr) c.3356G>C (p.Arg1119Thr) n.1458G>C n.912G>C n.120G>C n.6538G>C n.4912G>C n.32G>C n.891G>C n.2288G>C n.1655G>C n.1001G>C n.1419G>C n.1870G>C c.3275G>C (p.Arg1092Thr) c.3113G>C (p.Arg1038Thr) c.662G>C (p.Arg221Thr) c.3089G>C (p.Arg1030Thr) c.3176G>C (p.Arg1059Thr) c.3311G>C (p.Arg1104Thr) c.3212G>C (p.Arg1071Thr) c.3149G>C (p.Arg1050Thr) c.3014G>C (p.Arg1005Thr) c.3092G>C (p.Arg1031Thr) c.2891G>C (p.Arg964Thr) c.2990G>C (p.Arg997Thr) c.3320G>C (p.Arg1107Thr) c.3125G>C (p.Arg1042Thr) c.3098G>C (p.Arg1033Thr) c.3077G>C (p.Arg1026Thr) c.3050G>C (p.Arg1017Thr) c.3248G>C (p.Arg1083Thr) c.839G>C (p.Arg280Thr) c.2693G>C (p.Arg898Thr) c.803G>C (p.Arg268Thr) c.3221G>C (p.Arg1074Thr) c.3074G>C (p.Arg1025Thr) c.2783G>C (p.Arg928Thr) c.2933G>C (p.Arg978Thr) n.123G>C c.312G>C c.3188G>C (p.Arg1063Thr) c.3308G>C (p.Arg1103Thr) c.3272G>C (p.Arg1091Thr) c.3362G>C (p.Arg1121Thr) c.3326G>C (p.Arg1109Thr) c.3302G>C (p.Arg1101Thr) c.3347G>C (p.Arg1116Thr) c.3287G>C (p.Arg1096Thr) c.3254G>C (p.Arg1085Thr) c.3317G>C (p.Arg1106Thr) c.3173G>C (p.Arg1058Thr) c.3353G>C (p.Arg1118Thr) c.3245G>C (p.Arg1082Thr) c.3209G>C (p.Arg1070Thr) c.3224G>C (p.Arg1075Thr) c.3134G>C (p.Arg1045Thr) c.3062G>C (p.Arg1021Thr) c.3146G>C (p.Arg1049Thr) c.2975G>C (p.Arg992Thr) c.3392G>C (p.Arg1131Thr) c.3278G>C (p.Arg1093Thr) c.3260G>C (p.Arg1087Thr) c.3332G>C (p.Arg1111Thr) c.2792G>C (p.Arg931Thr) c.3119G>C (p.Arg1040Thr) c.3140G>C (p.Arg1047Thr) | dbSNP |
4 | g.113333104G>T | CA357936029 | ANK2 | c.3416G>T (p.Arg1139Met) c.3356G>T (p.Arg1119Met) n.1458G>T n.912G>T n.120G>T n.6538G>T n.4912G>T n.32G>T n.891G>T n.2288G>T n.1655G>T n.1001G>T n.1419G>T n.1870G>T c.3275G>T (p.Arg1092Met) c.3113G>T (p.Arg1038Met) c.662G>T (p.Arg221Met) c.3089G>T (p.Arg1030Met) c.3176G>T (p.Arg1059Met) c.3311G>T (p.Arg1104Met) c.3212G>T (p.Arg1071Met) c.3149G>T (p.Arg1050Met) c.3014G>T (p.Arg1005Met) c.3092G>T (p.Arg1031Met) c.2891G>T (p.Arg964Met) c.2990G>T (p.Arg997Met) c.3320G>T (p.Arg1107Met) c.3125G>T (p.Arg1042Met) c.3098G>T (p.Arg1033Met) c.3077G>T (p.Arg1026Met) c.3050G>T (p.Arg1017Met) c.3248G>T (p.Arg1083Met) c.839G>T (p.Arg280Met) c.2693G>T (p.Arg898Met) c.803G>T (p.Arg268Met) c.3221G>T (p.Arg1074Met) c.3074G>T (p.Arg1025Met) c.2783G>T (p.Arg928Met) c.2933G>T (p.Arg978Met) n.123G>T c.312G>T c.3188G>T (p.Arg1063Met) c.3308G>T (p.Arg1103Met) c.3272G>T (p.Arg1091Met) c.3362G>T (p.Arg1121Met) c.3326G>T (p.Arg1109Met) c.3302G>T (p.Arg1101Met) c.3347G>T (p.Arg1116Met) c.3287G>T (p.Arg1096Met) c.3254G>T (p.Arg1085Met) c.3317G>T (p.Arg1106Met) c.3173G>T (p.Arg1058Met) c.3353G>T (p.Arg1118Met) c.3245G>T (p.Arg1082Met) c.3209G>T (p.Arg1070Met) c.3224G>T (p.Arg1075Met) c.3134G>T (p.Arg1045Met) c.3062G>T (p.Arg1021Met) c.3146G>T (p.Arg1049Met) c.2975G>T (p.Arg992Met) c.3392G>T (p.Arg1131Met) c.3278G>T (p.Arg1093Met) c.3260G>T (p.Arg1087Met) c.3332G>T (p.Arg1111Met) c.2792G>T (p.Arg931Met) c.3119G>T (p.Arg1040Met) c.3140G>T (p.Arg1047Met) | dbSNP |
4 | g.113333105G>A | CA440842841 | ANK2 | c.3417G>A (p.Arg1139=) c.3357G>A (p.Arg1119=) n.1459G>A n.913G>A n.121G>A n.6539G>A n.4913G>A n.33G>A n.892G>A n.2289G>A n.1656G>A n.1002G>A n.1420G>A n.1871G>A c.3276G>A (p.Arg1092=) c.3114G>A (p.Arg1038=) c.663G>A (p.Arg221=) c.3090G>A (p.Arg1030=) c.3177G>A (p.Arg1059=) c.3312G>A (p.Arg1104=) c.3213G>A (p.Arg1071=) c.3150G>A (p.Arg1050=) c.3015G>A (p.Arg1005=) c.3093G>A (p.Arg1031=) c.2892G>A (p.Arg964=) c.2991G>A (p.Arg997=) c.3321G>A (p.Arg1107=) c.3126G>A (p.Arg1042=) c.3099G>A (p.Arg1033=) c.3078G>A (p.Arg1026=) c.3051G>A (p.Arg1017=) c.3249G>A (p.Arg1083=) c.840G>A (p.Arg280=) c.2694G>A (p.Arg898=) c.804G>A (p.Arg268=) c.3222G>A (p.Arg1074=) c.3075G>A (p.Arg1025=) c.2784G>A (p.Arg928=) c.2934G>A (p.Arg978=) n.124G>A c.313G>A c.3189G>A (p.Arg1063=) c.3309G>A (p.Arg1103=) c.3273G>A (p.Arg1091=) c.3363G>A (p.Arg1121=) c.3327G>A (p.Arg1109=) c.3303G>A (p.Arg1101=) c.3348G>A (p.Arg1116=) c.3288G>A (p.Arg1096=) c.3255G>A (p.Arg1085=) c.3318G>A (p.Arg1106=) c.3174G>A (p.Arg1058=) c.3354G>A (p.Arg1118=) c.3246G>A (p.Arg1082=) c.3210G>A (p.Arg1070=) c.3225G>A (p.Arg1075=) c.3135G>A (p.Arg1045=) c.3063G>A (p.Arg1021=) c.3147G>A (p.Arg1049=) c.2976G>A (p.Arg992=) c.3393G>A (p.Arg1131=) c.3279G>A (p.Arg1093=) c.3261G>A (p.Arg1087=) c.3333G>A (p.Arg1111=) c.2793G>A (p.Arg931=) c.3120G>A (p.Arg1040=) c.3141G>A (p.Arg1047=) | |
4 | g.113333105G>C | CA357936031 | ANK2 | c.3417G>C (p.Arg1139Ser) c.3357G>C (p.Arg1119Ser) n.1459G>C n.913G>C n.121G>C n.6539G>C n.4913G>C n.33G>C n.892G>C n.2289G>C n.1656G>C n.1002G>C n.1420G>C n.1871G>C c.3276G>C (p.Arg1092Ser) c.3114G>C (p.Arg1038Ser) c.663G>C (p.Arg221Ser) c.3090G>C (p.Arg1030Ser) c.3177G>C (p.Arg1059Ser) c.3312G>C (p.Arg1104Ser) c.3213G>C (p.Arg1071Ser) c.3150G>C (p.Arg1050Ser) c.3015G>C (p.Arg1005Ser) c.3093G>C (p.Arg1031Ser) c.2892G>C (p.Arg964Ser) c.2991G>C (p.Arg997Ser) c.3321G>C (p.Arg1107Ser) c.3126G>C (p.Arg1042Ser) c.3099G>C (p.Arg1033Ser) c.3078G>C (p.Arg1026Ser) c.3051G>C (p.Arg1017Ser) c.3249G>C (p.Arg1083Ser) c.840G>C (p.Arg280Ser) c.2694G>C (p.Arg898Ser) c.804G>C (p.Arg268Ser) c.3222G>C (p.Arg1074Ser) c.3075G>C (p.Arg1025Ser) c.2784G>C (p.Arg928Ser) c.2934G>C (p.Arg978Ser) n.124G>C c.313G>C c.3189G>C (p.Arg1063Ser) c.3309G>C (p.Arg1103Ser) c.3273G>C (p.Arg1091Ser) c.3363G>C (p.Arg1121Ser) c.3327G>C (p.Arg1109Ser) c.3303G>C (p.Arg1101Ser) c.3348G>C (p.Arg1116Ser) c.3288G>C (p.Arg1096Ser) c.3255G>C (p.Arg1085Ser) c.3318G>C (p.Arg1106Ser) c.3174G>C (p.Arg1058Ser) c.3354G>C (p.Arg1118Ser) c.3246G>C (p.Arg1082Ser) c.3210G>C (p.Arg1070Ser) c.3225G>C (p.Arg1075Ser) c.3135G>C (p.Arg1045Ser) c.3063G>C (p.Arg1021Ser) c.3147G>C (p.Arg1049Ser) c.2976G>C (p.Arg992Ser) c.3393G>C (p.Arg1131Ser) c.3279G>C (p.Arg1093Ser) c.3261G>C (p.Arg1087Ser) c.3333G>C (p.Arg1111Ser) c.2793G>C (p.Arg931Ser) c.3120G>C (p.Arg1040Ser) c.3141G>C (p.Arg1047Ser) | |
4 | g.113333105G>T | CA357936033 | ANK2 | c.3417G>T (p.Arg1139Ser) c.3357G>T (p.Arg1119Ser) n.1459G>T n.913G>T n.121G>T n.6539G>T n.4913G>T n.33G>T n.892G>T n.2289G>T n.1656G>T n.1002G>T n.1420G>T n.1871G>T c.3276G>T (p.Arg1092Ser) c.3114G>T (p.Arg1038Ser) c.663G>T (p.Arg221Ser) c.3090G>T (p.Arg1030Ser) c.3177G>T (p.Arg1059Ser) c.3312G>T (p.Arg1104Ser) c.3213G>T (p.Arg1071Ser) c.3150G>T (p.Arg1050Ser) c.3015G>T (p.Arg1005Ser) c.3093G>T (p.Arg1031Ser) c.2892G>T (p.Arg964Ser) c.2991G>T (p.Arg997Ser) c.3321G>T (p.Arg1107Ser) c.3126G>T (p.Arg1042Ser) c.3099G>T (p.Arg1033Ser) c.3078G>T (p.Arg1026Ser) c.3051G>T (p.Arg1017Ser) c.3249G>T (p.Arg1083Ser) c.840G>T (p.Arg280Ser) c.2694G>T (p.Arg898Ser) c.804G>T (p.Arg268Ser) c.3222G>T (p.Arg1074Ser) c.3075G>T (p.Arg1025Ser) c.2784G>T (p.Arg928Ser) c.2934G>T (p.Arg978Ser) n.124G>T c.313G>T c.3189G>T (p.Arg1063Ser) c.3309G>T (p.Arg1103Ser) c.3273G>T (p.Arg1091Ser) c.3363G>T (p.Arg1121Ser) c.3327G>T (p.Arg1109Ser) c.3303G>T (p.Arg1101Ser) c.3348G>T (p.Arg1116Ser) c.3288G>T (p.Arg1096Ser) c.3255G>T (p.Arg1085Ser) c.3318G>T (p.Arg1106Ser) c.3174G>T (p.Arg1058Ser) c.3354G>T (p.Arg1118Ser) c.3246G>T (p.Arg1082Ser) c.3210G>T (p.Arg1070Ser) c.3225G>T (p.Arg1075Ser) c.3135G>T (p.Arg1045Ser) c.3063G>T (p.Arg1021Ser) c.3147G>T (p.Arg1049Ser) c.2976G>T (p.Arg992Ser) c.3393G>T (p.Arg1131Ser) c.3279G>T (p.Arg1093Ser) c.3261G>T (p.Arg1087Ser) c.3333G>T (p.Arg1111Ser) c.2793G>T (p.Arg931Ser) c.3120G>T (p.Arg1040Ser) c.3141G>T (p.Arg1047Ser) | |
4 | g.113333106G>A | CA103824568 | ANK2 | c.3418G>A (p.Glu1140Lys) c.3358G>A (p.Glu1120Lys) n.1460G>A n.914G>A n.122G>A n.6540G>A n.4914G>A n.34G>A n.893G>A n.2290G>A n.1657G>A n.1003G>A n.1421G>A n.1872G>A c.3277G>A (p.Glu1093Lys) c.3115G>A (p.Glu1039Lys) c.664G>A (p.Glu222Lys) c.3091G>A (p.Glu1031Lys) c.3178G>A (p.Glu1060Lys) c.3313G>A (p.Glu1105Lys) c.3214G>A (p.Glu1072Lys) c.3151G>A (p.Glu1051Lys) c.3016G>A (p.Glu1006Lys) c.3094G>A (p.Glu1032Lys) c.2893G>A (p.Glu965Lys) c.2992G>A (p.Glu998Lys) c.3322G>A (p.Glu1108Lys) c.3127G>A (p.Glu1043Lys) c.3100G>A (p.Glu1034Lys) c.3079G>A (p.Glu1027Lys) c.3052G>A (p.Glu1018Lys) c.3250G>A (p.Glu1084Lys) c.841G>A (p.Glu281Lys) c.2695G>A (p.Glu899Lys) c.805G>A (p.Glu269Lys) c.3223G>A (p.Glu1075Lys) c.3076G>A (p.Glu1026Lys) c.2785G>A (p.Glu929Lys) c.2935G>A (p.Glu979Lys) n.125G>A c.314G>A c.3190G>A (p.Glu1064Lys) c.3310G>A (p.Glu1104Lys) c.3274G>A (p.Glu1092Lys) c.3364G>A (p.Glu1122Lys) c.3328G>A (p.Glu1110Lys) c.3304G>A (p.Glu1102Lys) c.3349G>A (p.Glu1117Lys) c.3289G>A (p.Glu1097Lys) c.3256G>A (p.Glu1086Lys) c.3319G>A (p.Glu1107Lys) c.3175G>A (p.Glu1059Lys) c.3355G>A (p.Glu1119Lys) c.3247G>A (p.Glu1083Lys) c.3211G>A (p.Glu1071Lys) c.3226G>A (p.Glu1076Lys) c.3136G>A (p.Glu1046Lys) c.3064G>A (p.Glu1022Lys) c.3148G>A (p.Glu1050Lys) c.2977G>A (p.Glu993Lys) c.3394G>A (p.Glu1132Lys) c.3280G>A (p.Glu1094Lys) c.3262G>A (p.Glu1088Lys) c.3334G>A (p.Glu1112Lys) c.2794G>A (p.Glu932Lys) c.3121G>A (p.Glu1041Lys) c.3142G>A (p.Glu1048Lys) | dbSNP |
4 | g.113333106G>C | CA357936036 | ANK2 | c.3418G>C (p.Glu1140Gln) c.3358G>C (p.Glu1120Gln) n.1460G>C n.914G>C n.122G>C n.6540G>C n.4914G>C n.34G>C n.893G>C n.2290G>C n.1657G>C n.1003G>C n.1421G>C n.1872G>C c.3277G>C (p.Glu1093Gln) c.3115G>C (p.Glu1039Gln) c.664G>C (p.Glu222Gln) c.3091G>C (p.Glu1031Gln) c.3178G>C (p.Glu1060Gln) c.3313G>C (p.Glu1105Gln) c.3214G>C (p.Glu1072Gln) c.3151G>C (p.Glu1051Gln) c.3016G>C (p.Glu1006Gln) c.3094G>C (p.Glu1032Gln) c.2893G>C (p.Glu965Gln) c.2992G>C (p.Glu998Gln) c.3322G>C (p.Glu1108Gln) c.3127G>C (p.Glu1043Gln) c.3100G>C (p.Glu1034Gln) c.3079G>C (p.Glu1027Gln) c.3052G>C (p.Glu1018Gln) c.3250G>C (p.Glu1084Gln) c.841G>C (p.Glu281Gln) c.2695G>C (p.Glu899Gln) c.805G>C (p.Glu269Gln) c.3223G>C (p.Glu1075Gln) c.3076G>C (p.Glu1026Gln) c.2785G>C (p.Glu929Gln) c.2935G>C (p.Glu979Gln) n.125G>C c.314G>C c.3190G>C (p.Glu1064Gln) c.3310G>C (p.Glu1104Gln) c.3274G>C (p.Glu1092Gln) c.3364G>C (p.Glu1122Gln) c.3328G>C (p.Glu1110Gln) c.3304G>C (p.Glu1102Gln) c.3349G>C (p.Glu1117Gln) c.3289G>C (p.Glu1097Gln) c.3256G>C (p.Glu1086Gln) c.3319G>C (p.Glu1107Gln) c.3175G>C (p.Glu1059Gln) c.3355G>C (p.Glu1119Gln) c.3247G>C (p.Glu1083Gln) c.3211G>C (p.Glu1071Gln) c.3226G>C (p.Glu1076Gln) c.3136G>C (p.Glu1046Gln) c.3064G>C (p.Glu1022Gln) c.3148G>C (p.Glu1050Gln) c.2977G>C (p.Glu993Gln) c.3394G>C (p.Glu1132Gln) c.3280G>C (p.Glu1094Gln) c.3262G>C (p.Glu1088Gln) c.3334G>C (p.Glu1112Gln) c.2794G>C (p.Glu932Gln) c.3121G>C (p.Glu1041Gln) c.3142G>C (p.Glu1048Gln) | dbSNP gnomAD v3 gnomAD v4 |
4 | g.113333106G>T | CA357936037 | ANK2 | c.3418G>T (p.Glu1140Ter) c.3358G>T (p.Glu1120Ter) n.1460G>T n.914G>T n.122G>T n.6540G>T n.4914G>T n.34G>T n.893G>T n.2290G>T n.1657G>T n.1003G>T n.1421G>T n.1872G>T c.3277G>T (p.Glu1093Ter) c.3115G>T (p.Glu1039Ter) c.664G>T (p.Glu222Ter) c.3091G>T (p.Glu1031Ter) c.3178G>T (p.Glu1060Ter) c.3313G>T (p.Glu1105Ter) c.3214G>T (p.Glu1072Ter) c.3151G>T (p.Glu1051Ter) c.3016G>T (p.Glu1006Ter) c.3094G>T (p.Glu1032Ter) c.2893G>T (p.Glu965Ter) c.2992G>T (p.Glu998Ter) c.3322G>T (p.Glu1108Ter) c.3127G>T (p.Glu1043Ter) c.3100G>T (p.Glu1034Ter) c.3079G>T (p.Glu1027Ter) c.3052G>T (p.Glu1018Ter) c.3250G>T (p.Glu1084Ter) c.841G>T (p.Glu281Ter) c.2695G>T (p.Glu899Ter) c.805G>T (p.Glu269Ter) c.3223G>T (p.Glu1075Ter) c.3076G>T (p.Glu1026Ter) c.2785G>T (p.Glu929Ter) c.2935G>T (p.Glu979Ter) n.125G>T c.314G>T c.3190G>T (p.Glu1064Ter) c.3310G>T (p.Glu1104Ter) c.3274G>T (p.Glu1092Ter) c.3364G>T (p.Glu1122Ter) c.3328G>T (p.Glu1110Ter) c.3304G>T (p.Glu1102Ter) c.3349G>T (p.Glu1117Ter) c.3289G>T (p.Glu1097Ter) c.3256G>T (p.Glu1086Ter) c.3319G>T (p.Glu1107Ter) c.3175G>T (p.Glu1059Ter) c.3355G>T (p.Glu1119Ter) c.3247G>T (p.Glu1083Ter) c.3211G>T (p.Glu1071Ter) c.3226G>T (p.Glu1076Ter) c.3136G>T (p.Glu1046Ter) c.3064G>T (p.Glu1022Ter) c.3148G>T (p.Glu1050Ter) c.2977G>T (p.Glu993Ter) c.3394G>T (p.Glu1132Ter) c.3280G>T (p.Glu1094Ter) c.3262G>T (p.Glu1088Ter) c.3334G>T (p.Glu1112Ter) c.2794G>T (p.Glu932Ter) c.3121G>T (p.Glu1041Ter) c.3142G>T (p.Glu1048Ter) | dbSNP |
4 | g.113333107A>C | CA357936039 | ANK2 | c.3419A>C (p.Glu1140Ala) c.3359A>C (p.Glu1120Ala) n.1461A>C n.915A>C n.123A>C n.6541A>C n.4915A>C n.35A>C n.894A>C n.2291A>C n.1658A>C n.1004A>C n.1422A>C n.1873A>C c.3278A>C (p.Glu1093Ala) c.3116A>C (p.Glu1039Ala) c.665A>C (p.Glu222Ala) c.3092A>C (p.Glu1031Ala) c.3179A>C (p.Glu1060Ala) c.3314A>C (p.Glu1105Ala) c.3215A>C (p.Glu1072Ala) c.3152A>C (p.Glu1051Ala) c.3017A>C (p.Glu1006Ala) c.3095A>C (p.Glu1032Ala) c.2894A>C (p.Glu965Ala) c.2993A>C (p.Glu998Ala) c.3323A>C (p.Glu1108Ala) c.3128A>C (p.Glu1043Ala) c.3101A>C (p.Glu1034Ala) c.3080A>C (p.Glu1027Ala) c.3053A>C (p.Glu1018Ala) c.3251A>C (p.Glu1084Ala) c.842A>C (p.Glu281Ala) c.2696A>C (p.Glu899Ala) c.806A>C (p.Glu269Ala) c.3224A>C (p.Glu1075Ala) c.3077A>C (p.Glu1026Ala) c.2786A>C (p.Glu929Ala) c.2936A>C (p.Glu979Ala) n.126A>C c.315A>C c.3191A>C (p.Glu1064Ala) c.3311A>C (p.Glu1104Ala) c.3275A>C (p.Glu1092Ala) c.3365A>C (p.Glu1122Ala) c.3329A>C (p.Glu1110Ala) c.3305A>C (p.Glu1102Ala) c.3350A>C (p.Glu1117Ala) c.3290A>C (p.Glu1097Ala) c.3257A>C (p.Glu1086Ala) c.3320A>C (p.Glu1107Ala) c.3176A>C (p.Glu1059Ala) c.3356A>C (p.Glu1119Ala) c.3248A>C (p.Glu1083Ala) c.3212A>C (p.Glu1071Ala) c.3227A>C (p.Glu1076Ala) c.3137A>C (p.Glu1046Ala) c.3065A>C (p.Glu1022Ala) c.3149A>C (p.Glu1050Ala) c.2978A>C (p.Glu993Ala) c.3395A>C (p.Glu1132Ala) c.3281A>C (p.Glu1094Ala) c.3263A>C (p.Glu1088Ala) c.3335A>C (p.Glu1112Ala) c.2795A>C (p.Glu932Ala) c.3122A>C (p.Glu1041Ala) c.3143A>C (p.Glu1048Ala) | |
4 | g.113333107A>G | CA357936041 | ANK2 | c.3419A>G (p.Glu1140Gly) c.3359A>G (p.Glu1120Gly) n.1461A>G n.915A>G n.123A>G n.6541A>G n.4915A>G n.35A>G n.894A>G n.2291A>G n.1658A>G n.1004A>G n.1422A>G n.1873A>G c.3278A>G (p.Glu1093Gly) c.3116A>G (p.Glu1039Gly) c.665A>G (p.Glu222Gly) c.3092A>G (p.Glu1031Gly) c.3179A>G (p.Glu1060Gly) c.3314A>G (p.Glu1105Gly) c.3215A>G (p.Glu1072Gly) c.3152A>G (p.Glu1051Gly) c.3017A>G (p.Glu1006Gly) c.3095A>G (p.Glu1032Gly) c.2894A>G (p.Glu965Gly) c.2993A>G (p.Glu998Gly) c.3323A>G (p.Glu1108Gly) c.3128A>G (p.Glu1043Gly) c.3101A>G (p.Glu1034Gly) c.3080A>G (p.Glu1027Gly) c.3053A>G (p.Glu1018Gly) c.3251A>G (p.Glu1084Gly) c.842A>G (p.Glu281Gly) c.2696A>G (p.Glu899Gly) c.806A>G (p.Glu269Gly) c.3224A>G (p.Glu1075Gly) c.3077A>G (p.Glu1026Gly) c.2786A>G (p.Glu929Gly) c.2936A>G (p.Glu979Gly) n.126A>G c.315A>G c.3191A>G (p.Glu1064Gly) c.3311A>G (p.Glu1104Gly) c.3275A>G (p.Glu1092Gly) c.3365A>G (p.Glu1122Gly) c.3329A>G (p.Glu1110Gly) c.3305A>G (p.Glu1102Gly) c.3350A>G (p.Glu1117Gly) c.3290A>G (p.Glu1097Gly) c.3257A>G (p.Glu1086Gly) c.3320A>G (p.Glu1107Gly) c.3176A>G (p.Glu1059Gly) c.3356A>G (p.Glu1119Gly) c.3248A>G (p.Glu1083Gly) c.3212A>G (p.Glu1071Gly) c.3227A>G (p.Glu1076Gly) c.3137A>G (p.Glu1046Gly) c.3065A>G (p.Glu1022Gly) c.3149A>G (p.Glu1050Gly) c.2978A>G (p.Glu993Gly) c.3395A>G (p.Glu1132Gly) c.3281A>G (p.Glu1094Gly) c.3263A>G (p.Glu1088Gly) c.3335A>G (p.Glu1112Gly) c.2795A>G (p.Glu932Gly) c.3122A>G (p.Glu1041Gly) c.3143A>G (p.Glu1048Gly) | |
4 | g.113333107A>T | CA357936043 | ANK2 | c.3419A>T (p.Glu1140Val) c.3359A>T (p.Glu1120Val) n.1461A>T n.915A>T n.123A>T n.6541A>T n.4915A>T n.35A>T n.894A>T n.2291A>T n.1658A>T n.1004A>T n.1422A>T n.1873A>T c.3278A>T (p.Glu1093Val) c.3116A>T (p.Glu1039Val) c.665A>T (p.Glu222Val) c.3092A>T (p.Glu1031Val) c.3179A>T (p.Glu1060Val) c.3314A>T (p.Glu1105Val) c.3215A>T (p.Glu1072Val) c.3152A>T (p.Glu1051Val) c.3017A>T (p.Glu1006Val) c.3095A>T (p.Glu1032Val) c.2894A>T (p.Glu965Val) c.2993A>T (p.Glu998Val) c.3323A>T (p.Glu1108Val) c.3128A>T (p.Glu1043Val) c.3101A>T (p.Glu1034Val) c.3080A>T (p.Glu1027Val) c.3053A>T (p.Glu1018Val) c.3251A>T (p.Glu1084Val) c.842A>T (p.Glu281Val) c.2696A>T (p.Glu899Val) c.806A>T (p.Glu269Val) c.3224A>T (p.Glu1075Val) c.3077A>T (p.Glu1026Val) c.2786A>T (p.Glu929Val) c.2936A>T (p.Glu979Val) n.126A>T c.315A>T c.3191A>T (p.Glu1064Val) c.3311A>T (p.Glu1104Val) c.3275A>T (p.Glu1092Val) c.3365A>T (p.Glu1122Val) c.3329A>T (p.Glu1110Val) c.3305A>T (p.Glu1102Val) c.3350A>T (p.Glu1117Val) c.3290A>T (p.Glu1097Val) c.3257A>T (p.Glu1086Val) c.3320A>T (p.Glu1107Val) c.3176A>T (p.Glu1059Val) c.3356A>T (p.Glu1119Val) c.3248A>T (p.Glu1083Val) c.3212A>T (p.Glu1071Val) c.3227A>T (p.Glu1076Val) c.3137A>T (p.Glu1046Val) c.3065A>T (p.Glu1022Val) c.3149A>T (p.Glu1050Val) c.2978A>T (p.Glu993Val) c.3395A>T (p.Glu1132Val) c.3281A>T (p.Glu1094Val) c.3263A>T (p.Glu1088Val) c.3335A>T (p.Glu1112Val) c.2795A>T (p.Glu932Val) c.3122A>T (p.Glu1041Val) c.3143A>T (p.Glu1048Val) | ClinVar |
4 | g.113333108A>C | CA357936045 | ANK2 | c.3420A>C (p.Glu1140Asp) c.3360A>C (p.Glu1120Asp) n.1462A>C n.916A>C n.124A>C n.6542A>C n.4916A>C n.36A>C n.895A>C n.2292A>C n.1659A>C n.1005A>C n.1423A>C n.1874A>C c.3279A>C (p.Glu1093Asp) c.3117A>C (p.Glu1039Asp) c.666A>C (p.Glu222Asp) c.3093A>C (p.Glu1031Asp) c.3180A>C (p.Glu1060Asp) c.3315A>C (p.Glu1105Asp) c.3216A>C (p.Glu1072Asp) c.3153A>C (p.Glu1051Asp) c.3018A>C (p.Glu1006Asp) c.3096A>C (p.Glu1032Asp) c.2895A>C (p.Glu965Asp) c.2994A>C (p.Glu998Asp) c.3324A>C (p.Glu1108Asp) c.3129A>C (p.Glu1043Asp) c.3102A>C (p.Glu1034Asp) c.3081A>C (p.Glu1027Asp) c.3054A>C (p.Glu1018Asp) c.3252A>C (p.Glu1084Asp) c.843A>C (p.Glu281Asp) c.2697A>C (p.Glu899Asp) c.807A>C (p.Glu269Asp) c.3225A>C (p.Glu1075Asp) c.3078A>C (p.Glu1026Asp) c.2787A>C (p.Glu929Asp) c.2937A>C (p.Glu979Asp) n.127A>C c.316A>C c.3192A>C (p.Glu1064Asp) c.3312A>C (p.Glu1104Asp) c.3276A>C (p.Glu1092Asp) c.3366A>C (p.Glu1122Asp) c.3330A>C (p.Glu1110Asp) c.3306A>C (p.Glu1102Asp) c.3351A>C (p.Glu1117Asp) c.3291A>C (p.Glu1097Asp) c.3258A>C (p.Glu1086Asp) c.3321A>C (p.Glu1107Asp) c.3177A>C (p.Glu1059Asp) c.3357A>C (p.Glu1119Asp) c.3249A>C (p.Glu1083Asp) c.3213A>C (p.Glu1071Asp) c.3228A>C (p.Glu1076Asp) c.3138A>C (p.Glu1046Asp) c.3066A>C (p.Glu1022Asp) c.3150A>C (p.Glu1050Asp) c.2979A>C (p.Glu993Asp) c.3396A>C (p.Glu1132Asp) c.3282A>C (p.Glu1094Asp) c.3264A>C (p.Glu1088Asp) c.3336A>C (p.Glu1112Asp) c.2796A>C (p.Glu932Asp) c.3123A>C (p.Glu1041Asp) c.3144A>C (p.Glu1048Asp) | |
4 | g.113333108A>G | CA440842842 | ANK2 | c.3420A>G (p.Glu1140=) c.3360A>G (p.Glu1120=) n.1462A>G n.916A>G n.124A>G n.6542A>G n.4916A>G n.36A>G n.895A>G n.2292A>G n.1659A>G n.1005A>G n.1423A>G n.1874A>G c.3279A>G (p.Glu1093=) c.3117A>G (p.Glu1039=) c.666A>G (p.Glu222=) c.3093A>G (p.Glu1031=) c.3180A>G (p.Glu1060=) c.3315A>G (p.Glu1105=) c.3216A>G (p.Glu1072=) c.3153A>G (p.Glu1051=) c.3018A>G (p.Glu1006=) c.3096A>G (p.Glu1032=) c.2895A>G (p.Glu965=) c.2994A>G (p.Glu998=) c.3324A>G (p.Glu1108=) c.3129A>G (p.Glu1043=) c.3102A>G (p.Glu1034=) c.3081A>G (p.Glu1027=) c.3054A>G (p.Glu1018=) c.3252A>G (p.Glu1084=) c.843A>G (p.Glu281=) c.2697A>G (p.Glu899=) c.807A>G (p.Glu269=) c.3225A>G (p.Glu1075=) c.3078A>G (p.Glu1026=) c.2787A>G (p.Glu929=) c.2937A>G (p.Glu979=) n.127A>G c.316A>G c.3192A>G (p.Glu1064=) c.3312A>G (p.Glu1104=) c.3276A>G (p.Glu1092=) c.3366A>G (p.Glu1122=) c.3330A>G (p.Glu1110=) c.3306A>G (p.Glu1102=) c.3351A>G (p.Glu1117=) c.3291A>G (p.Glu1097=) c.3258A>G (p.Glu1086=) c.3321A>G (p.Glu1107=) c.3177A>G (p.Glu1059=) c.3357A>G (p.Glu1119=) c.3249A>G (p.Glu1083=) c.3213A>G (p.Glu1071=) c.3228A>G (p.Glu1076=) c.3138A>G (p.Glu1046=) c.3066A>G (p.Glu1022=) c.3150A>G (p.Glu1050=) c.2979A>G (p.Glu993=) c.3396A>G (p.Glu1132=) c.3282A>G (p.Glu1094=) c.3264A>G (p.Glu1088=) c.3336A>G (p.Glu1112=) c.2796A>G (p.Glu932=) c.3123A>G (p.Glu1041=) c.3144A>G (p.Glu1048=) | |
4 | g.113333108A>T | CA357936047 | ANK2 | c.3420A>T (p.Glu1140Asp) c.3360A>T (p.Glu1120Asp) n.1462A>T n.916A>T n.124A>T n.6542A>T n.4916A>T n.36A>T n.895A>T n.2292A>T n.1659A>T n.1005A>T n.1423A>T n.1874A>T c.3279A>T (p.Glu1093Asp) c.3117A>T (p.Glu1039Asp) c.666A>T (p.Glu222Asp) c.3093A>T (p.Glu1031Asp) c.3180A>T (p.Glu1060Asp) c.3315A>T (p.Glu1105Asp) c.3216A>T (p.Glu1072Asp) c.3153A>T (p.Glu1051Asp) c.3018A>T (p.Glu1006Asp) c.3096A>T (p.Glu1032Asp) c.2895A>T (p.Glu965Asp) c.2994A>T (p.Glu998Asp) c.3324A>T (p.Glu1108Asp) c.3129A>T (p.Glu1043Asp) c.3102A>T (p.Glu1034Asp) c.3081A>T (p.Glu1027Asp) c.3054A>T (p.Glu1018Asp) c.3252A>T (p.Glu1084Asp) c.843A>T (p.Glu281Asp) c.2697A>T (p.Glu899Asp) c.807A>T (p.Glu269Asp) c.3225A>T (p.Glu1075Asp) c.3078A>T (p.Glu1026Asp) c.2787A>T (p.Glu929Asp) c.2937A>T (p.Glu979Asp) n.127A>T c.316A>T c.3192A>T (p.Glu1064Asp) c.3312A>T (p.Glu1104Asp) c.3276A>T (p.Glu1092Asp) c.3366A>T (p.Glu1122Asp) c.3330A>T (p.Glu1110Asp) c.3306A>T (p.Glu1102Asp) c.3351A>T (p.Glu1117Asp) c.3291A>T (p.Glu1097Asp) c.3258A>T (p.Glu1086Asp) c.3321A>T (p.Glu1107Asp) c.3177A>T (p.Glu1059Asp) c.3357A>T (p.Glu1119Asp) c.3249A>T (p.Glu1083Asp) c.3213A>T (p.Glu1071Asp) c.3228A>T (p.Glu1076Asp) c.3138A>T (p.Glu1046Asp) c.3066A>T (p.Glu1022Asp) c.3150A>T (p.Glu1050Asp) c.2979A>T (p.Glu993Asp) c.3396A>T (p.Glu1132Asp) c.3282A>T (p.Glu1094Asp) c.3264A>T (p.Glu1088Asp) c.3336A>T (p.Glu1112Asp) c.2796A>T (p.Glu932Asp) c.3123A>T (p.Glu1041Asp) c.3144A>T (p.Glu1048Asp) | dbSNP |
4 | g.113333109C>A | CA3050816 | ANK2 | c.3421C>A (p.Leu1141Met) c.3361C>A (p.Leu1121Met) n.1463C>A n.917C>A n.125C>A n.6543C>A n.4917C>A n.37C>A n.896C>A n.2293C>A n.1660C>A n.1006C>A n.1424C>A n.1875C>A c.3280C>A (p.Leu1094Met) c.3118C>A (p.Leu1040Met) c.667C>A (p.Leu223Met) c.3094C>A (p.Leu1032Met) c.3181C>A (p.Leu1061Met) c.3316C>A (p.Leu1106Met) c.3217C>A (p.Leu1073Met) c.3154C>A (p.Leu1052Met) c.3019C>A (p.Leu1007Met) c.3097C>A (p.Leu1033Met) c.2896C>A (p.Leu966Met) c.2995C>A (p.Leu999Met) c.3325C>A (p.Leu1109Met) c.3130C>A (p.Leu1044Met) c.3103C>A (p.Leu1035Met) c.3082C>A (p.Leu1028Met) c.3055C>A (p.Leu1019Met) c.3253C>A (p.Leu1085Met) c.844C>A (p.Leu282Met) c.2698C>A (p.Leu900Met) c.808C>A (p.Leu270Met) c.3226C>A (p.Leu1076Met) c.3079C>A (p.Leu1027Met) c.2788C>A (p.Leu930Met) c.2938C>A (p.Leu980Met) n.128C>A c.317C>A c.3193C>A (p.Leu1065Met) c.3313C>A (p.Leu1105Met) c.3277C>A (p.Leu1093Met) c.3367C>A (p.Leu1123Met) c.3331C>A (p.Leu1111Met) c.3307C>A (p.Leu1103Met) c.3352C>A (p.Leu1118Met) c.3292C>A (p.Leu1098Met) c.3259C>A (p.Leu1087Met) c.3322C>A (p.Leu1108Met) c.3178C>A (p.Leu1060Met) c.3358C>A (p.Leu1120Met) c.3250C>A (p.Leu1084Met) c.3214C>A (p.Leu1072Met) c.3229C>A (p.Leu1077Met) c.3139C>A (p.Leu1047Met) c.3067C>A (p.Leu1023Met) c.3151C>A (p.Leu1051Met) c.2980C>A (p.Leu994Met) c.3397C>A (p.Leu1133Met) c.3283C>A (p.Leu1095Met) c.3265C>A (p.Leu1089Met) c.3337C>A (p.Leu1113Met) c.2797C>A (p.Leu933Met) c.3124C>A (p.Leu1042Met) c.3145C>A (p.Leu1049Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
4 | g.113333109C>G | CA357936049 | ANK2 | c.3421C>G (p.Leu1141Val) c.3361C>G (p.Leu1121Val) n.1463C>G n.917C>G n.125C>G n.6543C>G n.4917C>G n.37C>G n.896C>G n.2293C>G n.1660C>G n.1006C>G n.1424C>G n.1875C>G c.3280C>G (p.Leu1094Val) c.3118C>G (p.Leu1040Val) c.667C>G (p.Leu223Val) c.3094C>G (p.Leu1032Val) c.3181C>G (p.Leu1061Val) c.3316C>G (p.Leu1106Val) c.3217C>G (p.Leu1073Val) c.3154C>G (p.Leu1052Val) c.3019C>G (p.Leu1007Val) c.3097C>G (p.Leu1033Val) c.2896C>G (p.Leu966Val) c.2995C>G (p.Leu999Val) c.3325C>G (p.Leu1109Val) c.3130C>G (p.Leu1044Val) c.3103C>G (p.Leu1035Val) c.3082C>G (p.Leu1028Val) c.3055C>G (p.Leu1019Val) c.3253C>G (p.Leu1085Val) c.844C>G (p.Leu282Val) c.2698C>G (p.Leu900Val) c.808C>G (p.Leu270Val) c.3226C>G (p.Leu1076Val) c.3079C>G (p.Leu1027Val) c.2788C>G (p.Leu930Val) c.2938C>G (p.Leu980Val) n.128C>G c.317C>G c.3193C>G (p.Leu1065Val) c.3313C>G (p.Leu1105Val) c.3277C>G (p.Leu1093Val) c.3367C>G (p.Leu1123Val) c.3331C>G (p.Leu1111Val) c.3307C>G (p.Leu1103Val) c.3352C>G (p.Leu1118Val) c.3292C>G (p.Leu1098Val) c.3259C>G (p.Leu1087Val) c.3322C>G (p.Leu1108Val) c.3178C>G (p.Leu1060Val) c.3358C>G (p.Leu1120Val) c.3250C>G (p.Leu1084Val) c.3214C>G (p.Leu1072Val) c.3229C>G (p.Leu1077Val) c.3139C>G (p.Leu1047Val) c.3067C>G (p.Leu1023Val) c.3151C>G (p.Leu1051Val) c.2980C>G (p.Leu994Val) c.3397C>G (p.Leu1133Val) c.3283C>G (p.Leu1095Val) c.3265C>G (p.Leu1089Val) c.3337C>G (p.Leu1113Val) c.2797C>G (p.Leu933Val) c.3124C>G (p.Leu1042Val) c.3145C>G (p.Leu1049Val) | dbSNP |
4 | g.113333109C>T | CA440842843 | ANK2 | c.3421C>T (p.Leu1141=) c.3361C>T (p.Leu1121=) n.1463C>T n.917C>T n.125C>T n.6543C>T n.4917C>T n.37C>T n.896C>T n.2293C>T n.1660C>T n.1006C>T n.1424C>T n.1875C>T c.3280C>T (p.Leu1094=) c.3118C>T (p.Leu1040=) c.667C>T (p.Leu223=) c.3094C>T (p.Leu1032=) c.3181C>T (p.Leu1061=) c.3316C>T (p.Leu1106=) c.3217C>T (p.Leu1073=) c.3154C>T (p.Leu1052=) c.3019C>T (p.Leu1007=) c.3097C>T (p.Leu1033=) c.2896C>T (p.Leu966=) c.2995C>T (p.Leu999=) c.3325C>T (p.Leu1109=) c.3130C>T (p.Leu1044=) c.3103C>T (p.Leu1035=) c.3082C>T (p.Leu1028=) c.3055C>T (p.Leu1019=) c.3253C>T (p.Leu1085=) c.844C>T (p.Leu282=) c.2698C>T (p.Leu900=) c.808C>T (p.Leu270=) c.3226C>T (p.Leu1076=) c.3079C>T (p.Leu1027=) c.2788C>T (p.Leu930=) c.2938C>T (p.Leu980=) n.128C>T c.317C>T c.3193C>T (p.Leu1065=) c.3313C>T (p.Leu1105=) c.3277C>T (p.Leu1093=) c.3367C>T (p.Leu1123=) c.3331C>T (p.Leu1111=) c.3307C>T (p.Leu1103=) c.3352C>T (p.Leu1118=) c.3292C>T (p.Leu1098=) c.3259C>T (p.Leu1087=) c.3322C>T (p.Leu1108=) c.3178C>T (p.Leu1060=) c.3358C>T (p.Leu1120=) c.3250C>T (p.Leu1084=) c.3214C>T (p.Leu1072=) c.3229C>T (p.Leu1077=) c.3139C>T (p.Leu1047=) c.3067C>T (p.Leu1023=) c.3151C>T (p.Leu1051=) c.2980C>T (p.Leu994=) c.3397C>T (p.Leu1133=) c.3283C>T (p.Leu1095=) c.3265C>T (p.Leu1089=) c.3337C>T (p.Leu1113=) c.2797C>T (p.Leu933=) c.3124C>T (p.Leu1042=) c.3145C>T (p.Leu1049=) | dbSNP |
4 | g.113333110T>A | CA357936052 | ANK2 | c.3422T>A (p.Leu1141Gln) c.3362T>A (p.Leu1121Gln) n.1464T>A n.918T>A n.126T>A n.6544T>A n.4918T>A n.38T>A n.897T>A n.2294T>A n.1661T>A n.1007T>A n.1425T>A n.1876T>A c.3281T>A (p.Leu1094Gln) c.3119T>A (p.Leu1040Gln) c.668T>A (p.Leu223Gln) c.3095T>A (p.Leu1032Gln) c.3182T>A (p.Leu1061Gln) c.3317T>A (p.Leu1106Gln) c.3218T>A (p.Leu1073Gln) c.3155T>A (p.Leu1052Gln) c.3020T>A (p.Leu1007Gln) c.3098T>A (p.Leu1033Gln) c.2897T>A (p.Leu966Gln) c.2996T>A (p.Leu999Gln) c.3326T>A (p.Leu1109Gln) c.3131T>A (p.Leu1044Gln) c.3104T>A (p.Leu1035Gln) c.3083T>A (p.Leu1028Gln) c.3056T>A (p.Leu1019Gln) c.3254T>A (p.Leu1085Gln) c.845T>A (p.Leu282Gln) c.2699T>A (p.Leu900Gln) c.809T>A (p.Leu270Gln) c.3227T>A (p.Leu1076Gln) c.3080T>A (p.Leu1027Gln) c.2789T>A (p.Leu930Gln) c.2939T>A (p.Leu980Gln) n.129T>A c.318T>A c.3194T>A (p.Leu1065Gln) c.3314T>A (p.Leu1105Gln) c.3278T>A (p.Leu1093Gln) c.3368T>A (p.Leu1123Gln) c.3332T>A (p.Leu1111Gln) c.3308T>A (p.Leu1103Gln) c.3353T>A (p.Leu1118Gln) c.3293T>A (p.Leu1098Gln) c.3260T>A (p.Leu1087Gln) c.3323T>A (p.Leu1108Gln) c.3179T>A (p.Leu1060Gln) c.3359T>A (p.Leu1120Gln) c.3251T>A (p.Leu1084Gln) c.3215T>A (p.Leu1072Gln) c.3230T>A (p.Leu1077Gln) c.3140T>A (p.Leu1047Gln) c.3068T>A (p.Leu1023Gln) c.3152T>A (p.Leu1051Gln) c.2981T>A (p.Leu994Gln) c.3398T>A (p.Leu1133Gln) c.3284T>A (p.Leu1095Gln) c.3266T>A (p.Leu1089Gln) c.3338T>A (p.Leu1113Gln) c.2798T>A (p.Leu933Gln) c.3125T>A (p.Leu1042Gln) c.3146T>A (p.Leu1049Gln) | |
4 | g.113333110T>C | CA357936054 | ANK2 | c.3422T>C (p.Leu1141Pro) c.3362T>C (p.Leu1121Pro) n.1464T>C n.918T>C n.126T>C n.6544T>C n.4918T>C n.38T>C n.897T>C n.2294T>C n.1661T>C n.1007T>C n.1425T>C n.1876T>C c.3281T>C (p.Leu1094Pro) c.3119T>C (p.Leu1040Pro) c.668T>C (p.Leu223Pro) c.3095T>C (p.Leu1032Pro) c.3182T>C (p.Leu1061Pro) c.3317T>C (p.Leu1106Pro) c.3218T>C (p.Leu1073Pro) c.3155T>C (p.Leu1052Pro) c.3020T>C (p.Leu1007Pro) c.3098T>C (p.Leu1033Pro) c.2897T>C (p.Leu966Pro) c.2996T>C (p.Leu999Pro) c.3326T>C (p.Leu1109Pro) c.3131T>C (p.Leu1044Pro) c.3104T>C (p.Leu1035Pro) c.3083T>C (p.Leu1028Pro) c.3056T>C (p.Leu1019Pro) c.3254T>C (p.Leu1085Pro) c.845T>C (p.Leu282Pro) c.2699T>C (p.Leu900Pro) c.809T>C (p.Leu270Pro) c.3227T>C (p.Leu1076Pro) c.3080T>C (p.Leu1027Pro) c.2789T>C (p.Leu930Pro) c.2939T>C (p.Leu980Pro) n.129T>C c.318T>C c.3194T>C (p.Leu1065Pro) c.3314T>C (p.Leu1105Pro) c.3278T>C (p.Leu1093Pro) c.3368T>C (p.Leu1123Pro) c.3332T>C (p.Leu1111Pro) c.3308T>C (p.Leu1103Pro) c.3353T>C (p.Leu1118Pro) c.3293T>C (p.Leu1098Pro) c.3260T>C (p.Leu1087Pro) c.3323T>C (p.Leu1108Pro) c.3179T>C (p.Leu1060Pro) c.3359T>C (p.Leu1120Pro) c.3251T>C (p.Leu1084Pro) c.3215T>C (p.Leu1072Pro) c.3230T>C (p.Leu1077Pro) c.3140T>C (p.Leu1047Pro) c.3068T>C (p.Leu1023Pro) c.3152T>C (p.Leu1051Pro) c.2981T>C (p.Leu994Pro) c.3398T>C (p.Leu1133Pro) c.3284T>C (p.Leu1095Pro) c.3266T>C (p.Leu1089Pro) c.3338T>C (p.Leu1113Pro) c.2798T>C (p.Leu933Pro) c.3125T>C (p.Leu1042Pro) c.3146T>C (p.Leu1049Pro) | gnomAD v4 |
4 | g.113333110T>G | CA357936055 | ANK2 | c.3422T>G (p.Leu1141Arg) c.3362T>G (p.Leu1121Arg) n.1464T>G n.918T>G n.126T>G n.6544T>G n.4918T>G n.38T>G n.897T>G n.2294T>G n.1661T>G n.1007T>G n.1425T>G n.1876T>G c.3281T>G (p.Leu1094Arg) c.3119T>G (p.Leu1040Arg) c.668T>G (p.Leu223Arg) c.3095T>G (p.Leu1032Arg) c.3182T>G (p.Leu1061Arg) c.3317T>G (p.Leu1106Arg) c.3218T>G (p.Leu1073Arg) c.3155T>G (p.Leu1052Arg) c.3020T>G (p.Leu1007Arg) c.3098T>G (p.Leu1033Arg) c.2897T>G (p.Leu966Arg) c.2996T>G (p.Leu999Arg) c.3326T>G (p.Leu1109Arg) c.3131T>G (p.Leu1044Arg) c.3104T>G (p.Leu1035Arg) c.3083T>G (p.Leu1028Arg) c.3056T>G (p.Leu1019Arg) c.3254T>G (p.Leu1085Arg) c.845T>G (p.Leu282Arg) c.2699T>G (p.Leu900Arg) c.809T>G (p.Leu270Arg) c.3227T>G (p.Leu1076Arg) c.3080T>G (p.Leu1027Arg) c.2789T>G (p.Leu930Arg) c.2939T>G (p.Leu980Arg) n.129T>G c.318T>G c.3194T>G (p.Leu1065Arg) c.3314T>G (p.Leu1105Arg) c.3278T>G (p.Leu1093Arg) c.3368T>G (p.Leu1123Arg) c.3332T>G (p.Leu1111Arg) c.3308T>G (p.Leu1103Arg) c.3353T>G (p.Leu1118Arg) c.3293T>G (p.Leu1098Arg) c.3260T>G (p.Leu1087Arg) c.3323T>G (p.Leu1108Arg) c.3179T>G (p.Leu1060Arg) c.3359T>G (p.Leu1120Arg) c.3251T>G (p.Leu1084Arg) c.3215T>G (p.Leu1072Arg) c.3230T>G (p.Leu1077Arg) c.3140T>G (p.Leu1047Arg) c.3068T>G (p.Leu1023Arg) c.3152T>G (p.Leu1051Arg) c.2981T>G (p.Leu994Arg) c.3398T>G (p.Leu1133Arg) c.3284T>G (p.Leu1095Arg) c.3266T>G (p.Leu1089Arg) c.3338T>G (p.Leu1113Arg) c.2798T>G (p.Leu933Arg) c.3125T>G (p.Leu1042Arg) c.3146T>G (p.Leu1049Arg) | |
4 | g.113333110dup | CA2580071447 | ANK2 | c.3422dup (p.Val1142GlyfsTer6) c.3362dup (p.Val1122GlyfsTer6) n.1464dup n.918dup n.126dup n.6544dup n.4918dup n.38dup n.897dup n.2294dup n.1661dup n.1007dup n.1425dup n.1876dup c.3281dup (p.Val1095GlyfsTer6) c.3119dup (p.Val1041GlyfsTer6) c.668dup (p.Val224GlyfsTer6) c.3095dup (p.Val1033GlyfsTer6) c.3182dup (p.Val1062GlyfsTer6) c.3317dup (p.Val1107GlyfsTer6) c.3218dup (p.Val1074GlyfsTer6) c.3155dup (p.Val1053GlyfsTer6) c.3020dup (p.Val1008GlyfsTer6) c.3098dup (p.Val1034GlyfsTer6) c.2897dup (p.Val967GlyfsTer6) c.2996dup (p.Val1000GlyfsTer6) c.3326dup (p.Val1110GlyfsTer6) c.3131dup (p.Val1045GlyfsTer6) c.3104dup (p.Val1036GlyfsTer6) c.3083dup (p.Val1029GlyfsTer6) c.3056dup (p.Val1020GlyfsTer6) c.3254dup (p.Val1086GlyfsTer6) c.845dup (p.Val283GlyfsTer6) c.2699dup (p.Val901GlyfsTer6) c.809dup (p.Val271GlyfsTer6) c.3227dup (p.Val1077GlyfsTer6) c.3080dup (p.Val1028GlyfsTer6) c.2789dup (p.Val931GlyfsTer6) c.2939dup (p.Val981GlyfsTer6) n.129dup c.318dup c.3194dup (p.Val1066GlyfsTer6) c.3314dup (p.Val1106GlyfsTer6) c.3278dup (p.Val1094GlyfsTer6) c.3368dup (p.Val1124GlyfsTer6) c.3332dup (p.Val1112GlyfsTer6) c.3308dup (p.Val1104GlyfsTer6) c.3353dup (p.Val1119GlyfsTer6) c.3293dup (p.Val1099GlyfsTer6) c.3260dup (p.Val1088GlyfsTer6) c.3323dup (p.Val1109GlyfsTer6) c.3179dup (p.Val1061GlyfsTer6) c.3359dup (p.Val1121GlyfsTer6) c.3251dup (p.Val1085GlyfsTer6) c.3215dup (p.Val1073GlyfsTer6) c.3230dup (p.Val1078GlyfsTer6) c.3140dup (p.Val1048GlyfsTer6) c.3068dup (p.Val1024GlyfsTer6) c.3152dup (p.Val1052GlyfsTer6) c.2981dup (p.Val995GlyfsTer6) c.3398dup (p.Val1134GlyfsTer6) c.3284dup (p.Val1096GlyfsTer6) c.3266dup (p.Val1090GlyfsTer6) c.3338dup (p.Val1114GlyfsTer6) c.2798dup (p.Val934GlyfsTer6) c.3125dup (p.Val1043GlyfsTer6) c.3146dup (p.Val1050GlyfsTer6) | ClinVar |
4 | g.113333111G>A | CA440842845 | ANK2 | c.3423G>A (p.Leu1141=) c.3363G>A (p.Leu1121=) n.1465G>A n.919G>A n.127G>A n.6545G>A n.4919G>A n.39G>A n.898G>A n.2295G>A n.1662G>A n.1008G>A n.1426G>A n.1877G>A c.3282G>A (p.Leu1094=) c.3120G>A (p.Leu1040=) c.669G>A (p.Leu223=) c.3096G>A (p.Leu1032=) c.3183G>A (p.Leu1061=) c.3318G>A (p.Leu1106=) c.3219G>A (p.Leu1073=) c.3156G>A (p.Leu1052=) c.3021G>A (p.Leu1007=) c.3099G>A (p.Leu1033=) c.2898G>A (p.Leu966=) c.2997G>A (p.Leu999=) c.3327G>A (p.Leu1109=) c.3132G>A (p.Leu1044=) c.3105G>A (p.Leu1035=) c.3084G>A (p.Leu1028=) c.3057G>A (p.Leu1019=) c.3255G>A (p.Leu1085=) c.846G>A (p.Leu282=) c.2700G>A (p.Leu900=) c.810G>A (p.Leu270=) c.3228G>A (p.Leu1076=) c.3081G>A (p.Leu1027=) c.2790G>A (p.Leu930=) c.2940G>A (p.Leu980=) n.130G>A c.319G>A c.3195G>A (p.Leu1065=) c.3315G>A (p.Leu1105=) c.3279G>A (p.Leu1093=) c.3369G>A (p.Leu1123=) c.3333G>A (p.Leu1111=) c.3309G>A (p.Leu1103=) c.3354G>A (p.Leu1118=) c.3294G>A (p.Leu1098=) c.3261G>A (p.Leu1087=) c.3324G>A (p.Leu1108=) c.3180G>A (p.Leu1060=) c.3360G>A (p.Leu1120=) c.3252G>A (p.Leu1084=) c.3216G>A (p.Leu1072=) c.3231G>A (p.Leu1077=) c.3141G>A (p.Leu1047=) c.3069G>A (p.Leu1023=) c.3153G>A (p.Leu1051=) c.2982G>A (p.Leu994=) c.3399G>A (p.Leu1133=) c.3285G>A (p.Leu1095=) c.3267G>A (p.Leu1089=) c.3339G>A (p.Leu1113=) c.2799G>A (p.Leu933=) c.3126G>A (p.Leu1042=) c.3147G>A (p.Leu1049=) | dbSNP |
4 | g.113333111G>C | CA440842846 | ANK2 | c.3423G>C (p.Leu1141=) c.3363G>C (p.Leu1121=) n.1465G>C n.919G>C n.127G>C n.6545G>C n.4919G>C n.39G>C n.898G>C n.2295G>C n.1662G>C n.1008G>C n.1426G>C n.1877G>C c.3282G>C (p.Leu1094=) c.3120G>C (p.Leu1040=) c.669G>C (p.Leu223=) c.3096G>C (p.Leu1032=) c.3183G>C (p.Leu1061=) c.3318G>C (p.Leu1106=) c.3219G>C (p.Leu1073=) c.3156G>C (p.Leu1052=) c.3021G>C (p.Leu1007=) c.3099G>C (p.Leu1033=) c.2898G>C (p.Leu966=) c.2997G>C (p.Leu999=) c.3327G>C (p.Leu1109=) c.3132G>C (p.Leu1044=) c.3105G>C (p.Leu1035=) c.3084G>C (p.Leu1028=) c.3057G>C (p.Leu1019=) c.3255G>C (p.Leu1085=) c.846G>C (p.Leu282=) c.2700G>C (p.Leu900=) c.810G>C (p.Leu270=) c.3228G>C (p.Leu1076=) c.3081G>C (p.Leu1027=) c.2790G>C (p.Leu930=) c.2940G>C (p.Leu980=) n.130G>C c.319G>C c.3195G>C (p.Leu1065=) c.3315G>C (p.Leu1105=) c.3279G>C (p.Leu1093=) c.3369G>C (p.Leu1123=) c.3333G>C (p.Leu1111=) c.3309G>C (p.Leu1103=) c.3354G>C (p.Leu1118=) c.3294G>C (p.Leu1098=) c.3261G>C (p.Leu1087=) c.3324G>C (p.Leu1108=) c.3180G>C (p.Leu1060=) c.3360G>C (p.Leu1120=) c.3252G>C (p.Leu1084=) c.3216G>C (p.Leu1072=) c.3231G>C (p.Leu1077=) c.3141G>C (p.Leu1047=) c.3069G>C (p.Leu1023=) c.3153G>C (p.Leu1051=) c.2982G>C (p.Leu994=) c.3399G>C (p.Leu1133=) c.3285G>C (p.Leu1095=) c.3267G>C (p.Leu1089=) c.3339G>C (p.Leu1113=) c.2799G>C (p.Leu933=) c.3126G>C (p.Leu1042=) c.3147G>C (p.Leu1049=) | dbSNP |
4 | g.113333111G>T | CA440842844 | ANK2 | c.3423G>T (p.Leu1141=) c.3363G>T (p.Leu1121=) n.1465G>T n.919G>T n.127G>T n.6545G>T n.4919G>T n.39G>T n.898G>T n.2295G>T n.1662G>T n.1008G>T n.1426G>T n.1877G>T c.3282G>T (p.Leu1094=) c.3120G>T (p.Leu1040=) c.669G>T (p.Leu223=) c.3096G>T (p.Leu1032=) c.3183G>T (p.Leu1061=) c.3318G>T (p.Leu1106=) c.3219G>T (p.Leu1073=) c.3156G>T (p.Leu1052=) c.3021G>T (p.Leu1007=) c.3099G>T (p.Leu1033=) c.2898G>T (p.Leu966=) c.2997G>T (p.Leu999=) c.3327G>T (p.Leu1109=) c.3132G>T (p.Leu1044=) c.3105G>T (p.Leu1035=) c.3084G>T (p.Leu1028=) c.3057G>T (p.Leu1019=) c.3255G>T (p.Leu1085=) c.846G>T (p.Leu282=) c.2700G>T (p.Leu900=) c.810G>T (p.Leu270=) c.3228G>T (p.Leu1076=) c.3081G>T (p.Leu1027=) c.2790G>T (p.Leu930=) c.2940G>T (p.Leu980=) n.130G>T c.319G>T c.3195G>T (p.Leu1065=) c.3315G>T (p.Leu1105=) c.3279G>T (p.Leu1093=) c.3369G>T (p.Leu1123=) c.3333G>T (p.Leu1111=) c.3309G>T (p.Leu1103=) c.3354G>T (p.Leu1118=) c.3294G>T (p.Leu1098=) c.3261G>T (p.Leu1087=) c.3324G>T (p.Leu1108=) c.3180G>T (p.Leu1060=) c.3360G>T (p.Leu1120=) c.3252G>T (p.Leu1084=) c.3216G>T (p.Leu1072=) c.3231G>T (p.Leu1077=) c.3141G>T (p.Leu1047=) c.3069G>T (p.Leu1023=) c.3153G>T (p.Leu1051=) c.2982G>T (p.Leu994=) c.3399G>T (p.Leu1133=) c.3285G>T (p.Leu1095=) c.3267G>T (p.Leu1089=) c.3339G>T (p.Leu1113=) c.2799G>T (p.Leu933=) c.3126G>T (p.Leu1042=) c.3147G>T (p.Leu1049=) | |
4 | g.113333112G>A | CA357936058 | ANK2 | c.3424G>A (p.Val1142Met) c.3364G>A (p.Val1122Met) n.1466G>A n.920G>A n.128G>A n.6546G>A n.4920G>A n.40G>A n.899G>A n.2296G>A n.1663G>A n.1009G>A n.1427G>A n.1878G>A c.3283G>A (p.Val1095Met) c.3121G>A (p.Val1041Met) c.670G>A (p.Val224Met) c.3097G>A (p.Val1033Met) c.3184G>A (p.Val1062Met) c.3319G>A (p.Val1107Met) c.3220G>A (p.Val1074Met) c.3157G>A (p.Val1053Met) c.3022G>A (p.Val1008Met) c.3100G>A (p.Val1034Met) c.2899G>A (p.Val967Met) c.2998G>A (p.Val1000Met) c.3328G>A (p.Val1110Met) c.3133G>A (p.Val1045Met) c.3106G>A (p.Val1036Met) c.3085G>A (p.Val1029Met) c.3058G>A (p.Val1020Met) c.3256G>A (p.Val1086Met) c.847G>A (p.Val283Met) c.2701G>A (p.Val901Met) c.811G>A (p.Val271Met) c.3229G>A (p.Val1077Met) c.3082G>A (p.Val1028Met) c.2791G>A (p.Val931Met) c.2941G>A (p.Val981Met) n.131G>A c.320G>A c.3196G>A (p.Val1066Met) c.3316G>A (p.Val1106Met) c.3280G>A (p.Val1094Met) c.3370G>A (p.Val1124Met) c.3334G>A (p.Val1112Met) c.3310G>A (p.Val1104Met) c.3355G>A (p.Val1119Met) c.3295G>A (p.Val1099Met) c.3262G>A (p.Val1088Met) c.3325G>A (p.Val1109Met) c.3181G>A (p.Val1061Met) c.3361G>A (p.Val1121Met) c.3253G>A (p.Val1085Met) c.3217G>A (p.Val1073Met) c.3232G>A (p.Val1078Met) c.3142G>A (p.Val1048Met) c.3070G>A (p.Val1024Met) c.3154G>A (p.Val1052Met) c.2983G>A (p.Val995Met) c.3400G>A (p.Val1134Met) c.3286G>A (p.Val1096Met) c.3268G>A (p.Val1090Met) c.3340G>A (p.Val1114Met) c.2800G>A (p.Val934Met) c.3127G>A (p.Val1043Met) c.3148G>A (p.Val1050Met) | dbSNP |
4 | g.113333112G>C | CA357936059 | ANK2 | c.3424G>C (p.Val1142Leu) c.3364G>C (p.Val1122Leu) n.1466G>C n.920G>C n.128G>C n.6546G>C n.4920G>C n.40G>C n.899G>C n.2296G>C n.1663G>C n.1009G>C n.1427G>C n.1878G>C c.3283G>C (p.Val1095Leu) c.3121G>C (p.Val1041Leu) c.670G>C (p.Val224Leu) c.3097G>C (p.Val1033Leu) c.3184G>C (p.Val1062Leu) c.3319G>C (p.Val1107Leu) c.3220G>C (p.Val1074Leu) c.3157G>C (p.Val1053Leu) c.3022G>C (p.Val1008Leu) c.3100G>C (p.Val1034Leu) c.2899G>C (p.Val967Leu) c.2998G>C (p.Val1000Leu) c.3328G>C (p.Val1110Leu) c.3133G>C (p.Val1045Leu) c.3106G>C (p.Val1036Leu) c.3085G>C (p.Val1029Leu) c.3058G>C (p.Val1020Leu) c.3256G>C (p.Val1086Leu) c.847G>C (p.Val283Leu) c.2701G>C (p.Val901Leu) c.811G>C (p.Val271Leu) c.3229G>C (p.Val1077Leu) c.3082G>C (p.Val1028Leu) c.2791G>C (p.Val931Leu) c.2941G>C (p.Val981Leu) n.131G>C c.320G>C c.3196G>C (p.Val1066Leu) c.3316G>C (p.Val1106Leu) c.3280G>C (p.Val1094Leu) c.3370G>C (p.Val1124Leu) c.3334G>C (p.Val1112Leu) c.3310G>C (p.Val1104Leu) c.3355G>C (p.Val1119Leu) c.3295G>C (p.Val1099Leu) c.3262G>C (p.Val1088Leu) c.3325G>C (p.Val1109Leu) c.3181G>C (p.Val1061Leu) c.3361G>C (p.Val1121Leu) c.3253G>C (p.Val1085Leu) c.3217G>C (p.Val1073Leu) c.3232G>C (p.Val1078Leu) c.3142G>C (p.Val1048Leu) c.3070G>C (p.Val1024Leu) c.3154G>C (p.Val1052Leu) c.2983G>C (p.Val995Leu) c.3400G>C (p.Val1134Leu) c.3286G>C (p.Val1096Leu) c.3268G>C (p.Val1090Leu) c.3340G>C (p.Val1114Leu) c.2800G>C (p.Val934Leu) c.3127G>C (p.Val1043Leu) c.3148G>C (p.Val1050Leu) | dbSNP |
4 | g.113333112G>T | CA357936060 | ANK2 | c.3424G>T (p.Val1142Leu) c.3364G>T (p.Val1122Leu) n.1466G>T n.920G>T n.128G>T n.6546G>T n.4920G>T n.40G>T n.899G>T n.2296G>T n.1663G>T n.1009G>T n.1427G>T n.1878G>T c.3283G>T (p.Val1095Leu) c.3121G>T (p.Val1041Leu) c.670G>T (p.Val224Leu) c.3097G>T (p.Val1033Leu) c.3184G>T (p.Val1062Leu) c.3319G>T (p.Val1107Leu) c.3220G>T (p.Val1074Leu) c.3157G>T (p.Val1053Leu) c.3022G>T (p.Val1008Leu) c.3100G>T (p.Val1034Leu) c.2899G>T (p.Val967Leu) c.2998G>T (p.Val1000Leu) c.3328G>T (p.Val1110Leu) c.3133G>T (p.Val1045Leu) c.3106G>T (p.Val1036Leu) c.3085G>T (p.Val1029Leu) c.3058G>T (p.Val1020Leu) c.3256G>T (p.Val1086Leu) c.847G>T (p.Val283Leu) c.2701G>T (p.Val901Leu) c.811G>T (p.Val271Leu) c.3229G>T (p.Val1077Leu) c.3082G>T (p.Val1028Leu) c.2791G>T (p.Val931Leu) c.2941G>T (p.Val981Leu) n.131G>T c.320G>T c.3196G>T (p.Val1066Leu) c.3316G>T (p.Val1106Leu) c.3280G>T (p.Val1094Leu) c.3370G>T (p.Val1124Leu) c.3334G>T (p.Val1112Leu) c.3310G>T (p.Val1104Leu) c.3355G>T (p.Val1119Leu) c.3295G>T (p.Val1099Leu) c.3262G>T (p.Val1088Leu) c.3325G>T (p.Val1109Leu) c.3181G>T (p.Val1061Leu) c.3361G>T (p.Val1121Leu) c.3253G>T (p.Val1085Leu) c.3217G>T (p.Val1073Leu) c.3232G>T (p.Val1078Leu) c.3142G>T (p.Val1048Leu) c.3070G>T (p.Val1024Leu) c.3154G>T (p.Val1052Leu) c.2983G>T (p.Val995Leu) c.3400G>T (p.Val1134Leu) c.3286G>T (p.Val1096Leu) c.3268G>T (p.Val1090Leu) c.3340G>T (p.Val1114Leu) c.2800G>T (p.Val934Leu) c.3127G>T (p.Val1043Leu) c.3148G>T (p.Val1050Leu) | dbSNP |
4 | g.113333113T>A | CA357936062 | ANK2 | c.3425T>A (p.Val1142Glu) c.3365T>A (p.Val1122Glu) n.1467T>A n.921T>A n.129T>A n.6547T>A n.4921T>A n.41T>A n.900T>A n.2297T>A n.1664T>A n.1010T>A n.1428T>A n.1879T>A c.3284T>A (p.Val1095Glu) c.3122T>A (p.Val1041Glu) c.671T>A (p.Val224Glu) c.3098T>A (p.Val1033Glu) c.3185T>A (p.Val1062Glu) c.3320T>A (p.Val1107Glu) c.3221T>A (p.Val1074Glu) c.3158T>A (p.Val1053Glu) c.3023T>A (p.Val1008Glu) c.3101T>A (p.Val1034Glu) c.2900T>A (p.Val967Glu) c.2999T>A (p.Val1000Glu) c.3329T>A (p.Val1110Glu) c.3134T>A (p.Val1045Glu) c.3107T>A (p.Val1036Glu) c.3086T>A (p.Val1029Glu) c.3059T>A (p.Val1020Glu) c.3257T>A (p.Val1086Glu) c.848T>A (p.Val283Glu) c.2702T>A (p.Val901Glu) c.812T>A (p.Val271Glu) c.3230T>A (p.Val1077Glu) c.3083T>A (p.Val1028Glu) c.2792T>A (p.Val931Glu) c.2942T>A (p.Val981Glu) n.132T>A c.321T>A c.3197T>A (p.Val1066Glu) c.3317T>A (p.Val1106Glu) c.3281T>A (p.Val1094Glu) c.3371T>A (p.Val1124Glu) c.3335T>A (p.Val1112Glu) c.3311T>A (p.Val1104Glu) c.3356T>A (p.Val1119Glu) c.3296T>A (p.Val1099Glu) c.3263T>A (p.Val1088Glu) c.3326T>A (p.Val1109Glu) c.3182T>A (p.Val1061Glu) c.3362T>A (p.Val1121Glu) c.3254T>A (p.Val1085Glu) c.3218T>A (p.Val1073Glu) c.3233T>A (p.Val1078Glu) c.3143T>A (p.Val1048Glu) c.3071T>A (p.Val1024Glu) c.3155T>A (p.Val1052Glu) c.2984T>A (p.Val995Glu) c.3401T>A (p.Val1134Glu) c.3287T>A (p.Val1096Glu) c.3269T>A (p.Val1090Glu) c.3341T>A (p.Val1114Glu) c.2801T>A (p.Val934Glu) c.3128T>A (p.Val1043Glu) c.3149T>A (p.Val1050Glu) |