Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.113333056C>ACA357935820ANK2c.3368C>A (p.Pro1123His)
c.3308C>A (p.Pro1103His)
n.1410C>A
n.864C>A
n.72C>A
n.6490C>A
n.4864C>A
n.843C>A
n.2240C>A
n.1607C>A
n.953C>A
n.1371C>A
n.1822C>A
c.3227C>A (p.Pro1076His)
c.3065C>A (p.Pro1022His)
c.614C>A (p.Pro205His)
c.3041C>A (p.Pro1014His)
c.3128C>A (p.Pro1043His)
c.3263C>A (p.Pro1088His)
c.3164C>A (p.Pro1055His)
c.3101C>A (p.Pro1034His)
c.2966C>A (p.Pro989His)
c.3044C>A (p.Pro1015His)
c.2843C>A (p.Pro948His)
c.2942C>A (p.Pro981His)
c.3272C>A (p.Pro1091His)
c.3077C>A (p.Pro1026His)
c.3050C>A (p.Pro1017His)
c.3029C>A (p.Pro1010His)
c.3002C>A (p.Pro1001His)
c.3200C>A (p.Pro1067His)
c.791C>A (p.Pro264His)
c.2645C>A (p.Pro882His)
c.755C>A (p.Pro252His)
c.3173C>A (p.Pro1058His)
c.3026C>A (p.Pro1009His)
c.2735C>A (p.Pro912His)
c.2885C>A (p.Pro962His)
n.75C>A
c.264C>A
c.3140C>A (p.Pro1047His)
c.3260C>A (p.Pro1087His)
c.3224C>A (p.Pro1075His)
c.3314C>A (p.Pro1105His)
c.3278C>A (p.Pro1093His)
c.3254C>A (p.Pro1085His)
c.3299C>A (p.Pro1100His)
c.3239C>A (p.Pro1080His)
c.3206C>A (p.Pro1069His)
c.3269C>A (p.Pro1090His)
c.3125C>A (p.Pro1042His)
c.3305C>A (p.Pro1102His)
c.3197C>A (p.Pro1066His)
c.3161C>A (p.Pro1054His)
c.3176C>A (p.Pro1059His)
c.3086C>A (p.Pro1029His)
c.3014C>A (p.Pro1005His)
c.3098C>A (p.Pro1033His)
c.2927C>A (p.Pro976His)
c.3344C>A (p.Pro1115His)
c.3230C>A (p.Pro1077His)
c.3212C>A (p.Pro1071His)
c.3284C>A (p.Pro1095His)
c.2744C>A (p.Pro915His)
c.3071C>A (p.Pro1024His)
c.3092C>A (p.Pro1031His)
 dbSNP COSMIC COSMIC
4g.113333056C>GCA357935821ANK2c.3368C>G (p.Pro1123Arg)
c.3308C>G (p.Pro1103Arg)
n.1410C>G
n.864C>G
n.72C>G
n.6490C>G
n.4864C>G
n.843C>G
n.2240C>G
n.1607C>G
n.953C>G
n.1371C>G
n.1822C>G
c.3227C>G (p.Pro1076Arg)
c.3065C>G (p.Pro1022Arg)
c.614C>G (p.Pro205Arg)
c.3041C>G (p.Pro1014Arg)
c.3128C>G (p.Pro1043Arg)
c.3263C>G (p.Pro1088Arg)
c.3164C>G (p.Pro1055Arg)
c.3101C>G (p.Pro1034Arg)
c.2966C>G (p.Pro989Arg)
c.3044C>G (p.Pro1015Arg)
c.2843C>G (p.Pro948Arg)
c.2942C>G (p.Pro981Arg)
c.3272C>G (p.Pro1091Arg)
c.3077C>G (p.Pro1026Arg)
c.3050C>G (p.Pro1017Arg)
c.3029C>G (p.Pro1010Arg)
c.3002C>G (p.Pro1001Arg)
c.3200C>G (p.Pro1067Arg)
c.791C>G (p.Pro264Arg)
c.2645C>G (p.Pro882Arg)
c.755C>G (p.Pro252Arg)
c.3173C>G (p.Pro1058Arg)
c.3026C>G (p.Pro1009Arg)
c.2735C>G (p.Pro912Arg)
c.2885C>G (p.Pro962Arg)
n.75C>G
c.264C>G
c.3140C>G (p.Pro1047Arg)
c.3260C>G (p.Pro1087Arg)
c.3224C>G (p.Pro1075Arg)
c.3314C>G (p.Pro1105Arg)
c.3278C>G (p.Pro1093Arg)
c.3254C>G (p.Pro1085Arg)
c.3299C>G (p.Pro1100Arg)
c.3239C>G (p.Pro1080Arg)
c.3206C>G (p.Pro1069Arg)
c.3269C>G (p.Pro1090Arg)
c.3125C>G (p.Pro1042Arg)
c.3305C>G (p.Pro1102Arg)
c.3197C>G (p.Pro1066Arg)
c.3161C>G (p.Pro1054Arg)
c.3176C>G (p.Pro1059Arg)
c.3086C>G (p.Pro1029Arg)
c.3014C>G (p.Pro1005Arg)
c.3098C>G (p.Pro1033Arg)
c.2927C>G (p.Pro976Arg)
c.3344C>G (p.Pro1115Arg)
c.3230C>G (p.Pro1077Arg)
c.3212C>G (p.Pro1071Arg)
c.3284C>G (p.Pro1095Arg)
c.2744C>G (p.Pro915Arg)
c.3071C>G (p.Pro1024Arg)
c.3092C>G (p.Pro1031Arg)
 dbSNP
4g.113333056C>TCA357935824ANK2c.3368C>T (p.Pro1123Leu)
c.3308C>T (p.Pro1103Leu)
n.1410C>T
n.864C>T
n.72C>T
n.6490C>T
n.4864C>T
n.843C>T
n.2240C>T
n.1607C>T
n.953C>T
n.1371C>T
n.1822C>T
c.3227C>T (p.Pro1076Leu)
c.3065C>T (p.Pro1022Leu)
c.614C>T (p.Pro205Leu)
c.3041C>T (p.Pro1014Leu)
c.3128C>T (p.Pro1043Leu)
c.3263C>T (p.Pro1088Leu)
c.3164C>T (p.Pro1055Leu)
c.3101C>T (p.Pro1034Leu)
c.2966C>T (p.Pro989Leu)
c.3044C>T (p.Pro1015Leu)
c.2843C>T (p.Pro948Leu)
c.2942C>T (p.Pro981Leu)
c.3272C>T (p.Pro1091Leu)
c.3077C>T (p.Pro1026Leu)
c.3050C>T (p.Pro1017Leu)
c.3029C>T (p.Pro1010Leu)
c.3002C>T (p.Pro1001Leu)
c.3200C>T (p.Pro1067Leu)
c.791C>T (p.Pro264Leu)
c.2645C>T (p.Pro882Leu)
c.755C>T (p.Pro252Leu)
c.3173C>T (p.Pro1058Leu)
c.3026C>T (p.Pro1009Leu)
c.2735C>T (p.Pro912Leu)
c.2885C>T (p.Pro962Leu)
n.75C>T
c.264C>T
c.3140C>T (p.Pro1047Leu)
c.3260C>T (p.Pro1087Leu)
c.3224C>T (p.Pro1075Leu)
c.3314C>T (p.Pro1105Leu)
c.3278C>T (p.Pro1093Leu)
c.3254C>T (p.Pro1085Leu)
c.3299C>T (p.Pro1100Leu)
c.3239C>T (p.Pro1080Leu)
c.3206C>T (p.Pro1069Leu)
c.3269C>T (p.Pro1090Leu)
c.3125C>T (p.Pro1042Leu)
c.3305C>T (p.Pro1102Leu)
c.3197C>T (p.Pro1066Leu)
c.3161C>T (p.Pro1054Leu)
c.3176C>T (p.Pro1059Leu)
c.3086C>T (p.Pro1029Leu)
c.3014C>T (p.Pro1005Leu)
c.3098C>T (p.Pro1033Leu)
c.2927C>T (p.Pro976Leu)
c.3344C>T (p.Pro1115Leu)
c.3230C>T (p.Pro1077Leu)
c.3212C>T (p.Pro1071Leu)
c.3284C>T (p.Pro1095Leu)
c.2744C>T (p.Pro915Leu)
c.3071C>T (p.Pro1024Leu)
c.3092C>T (p.Pro1031Leu)
 dbSNP
4g.113333057T>ACA440842765ANK2c.3369T>A (p.Pro1123=)
c.3309T>A (p.Pro1103=)
n.1411T>A
n.865T>A
n.73T>A
n.6491T>A
n.4865T>A
n.844T>A
n.2241T>A
n.1608T>A
n.954T>A
n.1372T>A
n.1823T>A
c.3228T>A (p.Pro1076=)
c.3066T>A (p.Pro1022=)
c.615T>A (p.Pro205=)
c.3042T>A (p.Pro1014=)
c.3129T>A (p.Pro1043=)
c.3264T>A (p.Pro1088=)
c.3165T>A (p.Pro1055=)
c.3102T>A (p.Pro1034=)
c.2967T>A (p.Pro989=)
c.3045T>A (p.Pro1015=)
c.2844T>A (p.Pro948=)
c.2943T>A (p.Pro981=)
c.3273T>A (p.Pro1091=)
c.3078T>A (p.Pro1026=)
c.3051T>A (p.Pro1017=)
c.3030T>A (p.Pro1010=)
c.3003T>A (p.Pro1001=)
c.3201T>A (p.Pro1067=)
c.792T>A (p.Pro264=)
c.2646T>A (p.Pro882=)
c.756T>A (p.Pro252=)
c.3174T>A (p.Pro1058=)
c.3027T>A (p.Pro1009=)
c.2736T>A (p.Pro912=)
c.2886T>A (p.Pro962=)
n.76T>A
c.265T>A
c.3141T>A (p.Pro1047=)
c.3261T>A (p.Pro1087=)
c.3225T>A (p.Pro1075=)
c.3315T>A (p.Pro1105=)
c.3279T>A (p.Pro1093=)
c.3255T>A (p.Pro1085=)
c.3300T>A (p.Pro1100=)
c.3240T>A (p.Pro1080=)
c.3207T>A (p.Pro1069=)
c.3270T>A (p.Pro1090=)
c.3126T>A (p.Pro1042=)
c.3306T>A (p.Pro1102=)
c.3198T>A (p.Pro1066=)
c.3162T>A (p.Pro1054=)
c.3177T>A (p.Pro1059=)
c.3087T>A (p.Pro1029=)
c.3015T>A (p.Pro1005=)
c.3099T>A (p.Pro1033=)
c.2928T>A (p.Pro976=)
c.3345T>A (p.Pro1115=)
c.3231T>A (p.Pro1077=)
c.3213T>A (p.Pro1071=)
c.3285T>A (p.Pro1095=)
c.2745T>A (p.Pro915=)
c.3072T>A (p.Pro1024=)
c.3093T>A (p.Pro1031=)
 dbSNP
4g.113333057T>CCA440842766ANK2c.3369T>C (p.Pro1123=)
c.3309T>C (p.Pro1103=)
n.1411T>C
n.865T>C
n.73T>C
n.6491T>C
n.4865T>C
n.844T>C
n.2241T>C
n.1608T>C
n.954T>C
n.1372T>C
n.1823T>C
c.3228T>C (p.Pro1076=)
c.3066T>C (p.Pro1022=)
c.615T>C (p.Pro205=)
c.3042T>C (p.Pro1014=)
c.3129T>C (p.Pro1043=)
c.3264T>C (p.Pro1088=)
c.3165T>C (p.Pro1055=)
c.3102T>C (p.Pro1034=)
c.2967T>C (p.Pro989=)
c.3045T>C (p.Pro1015=)
c.2844T>C (p.Pro948=)
c.2943T>C (p.Pro981=)
c.3273T>C (p.Pro1091=)
c.3078T>C (p.Pro1026=)
c.3051T>C (p.Pro1017=)
c.3030T>C (p.Pro1010=)
c.3003T>C (p.Pro1001=)
c.3201T>C (p.Pro1067=)
c.792T>C (p.Pro264=)
c.2646T>C (p.Pro882=)
c.756T>C (p.Pro252=)
c.3174T>C (p.Pro1058=)
c.3027T>C (p.Pro1009=)
c.2736T>C (p.Pro912=)
c.2886T>C (p.Pro962=)
n.76T>C
c.265T>C
c.3141T>C (p.Pro1047=)
c.3261T>C (p.Pro1087=)
c.3225T>C (p.Pro1075=)
c.3315T>C (p.Pro1105=)
c.3279T>C (p.Pro1093=)
c.3255T>C (p.Pro1085=)
c.3300T>C (p.Pro1100=)
c.3240T>C (p.Pro1080=)
c.3207T>C (p.Pro1069=)
c.3270T>C (p.Pro1090=)
c.3126T>C (p.Pro1042=)
c.3306T>C (p.Pro1102=)
c.3198T>C (p.Pro1066=)
c.3162T>C (p.Pro1054=)
c.3177T>C (p.Pro1059=)
c.3087T>C (p.Pro1029=)
c.3015T>C (p.Pro1005=)
c.3099T>C (p.Pro1033=)
c.2928T>C (p.Pro976=)
c.3345T>C (p.Pro1115=)
c.3231T>C (p.Pro1077=)
c.3213T>C (p.Pro1071=)
c.3285T>C (p.Pro1095=)
c.2745T>C (p.Pro915=)
c.3072T>C (p.Pro1024=)
c.3093T>C (p.Pro1031=)
 dbSNP
4g.113333057T>GCA440842767ANK2c.3369T>G (p.Pro1123=)
c.3309T>G (p.Pro1103=)
n.1411T>G
n.865T>G
n.73T>G
n.6491T>G
n.4865T>G
n.844T>G
n.2241T>G
n.1608T>G
n.954T>G
n.1372T>G
n.1823T>G
c.3228T>G (p.Pro1076=)
c.3066T>G (p.Pro1022=)
c.615T>G (p.Pro205=)
c.3042T>G (p.Pro1014=)
c.3129T>G (p.Pro1043=)
c.3264T>G (p.Pro1088=)
c.3165T>G (p.Pro1055=)
c.3102T>G (p.Pro1034=)
c.2967T>G (p.Pro989=)
c.3045T>G (p.Pro1015=)
c.2844T>G (p.Pro948=)
c.2943T>G (p.Pro981=)
c.3273T>G (p.Pro1091=)
c.3078T>G (p.Pro1026=)
c.3051T>G (p.Pro1017=)
c.3030T>G (p.Pro1010=)
c.3003T>G (p.Pro1001=)
c.3201T>G (p.Pro1067=)
c.792T>G (p.Pro264=)
c.2646T>G (p.Pro882=)
c.756T>G (p.Pro252=)
c.3174T>G (p.Pro1058=)
c.3027T>G (p.Pro1009=)
c.2736T>G (p.Pro912=)
c.2886T>G (p.Pro962=)
n.76T>G
c.265T>G
c.3141T>G (p.Pro1047=)
c.3261T>G (p.Pro1087=)
c.3225T>G (p.Pro1075=)
c.3315T>G (p.Pro1105=)
c.3279T>G (p.Pro1093=)
c.3255T>G (p.Pro1085=)
c.3300T>G (p.Pro1100=)
c.3240T>G (p.Pro1080=)
c.3207T>G (p.Pro1069=)
c.3270T>G (p.Pro1090=)
c.3126T>G (p.Pro1042=)
c.3306T>G (p.Pro1102=)
c.3198T>G (p.Pro1066=)
c.3162T>G (p.Pro1054=)
c.3177T>G (p.Pro1059=)
c.3087T>G (p.Pro1029=)
c.3015T>G (p.Pro1005=)
c.3099T>G (p.Pro1033=)
c.2928T>G (p.Pro976=)
c.3345T>G (p.Pro1115=)
c.3231T>G (p.Pro1077=)
c.3213T>G (p.Pro1071=)
c.3285T>G (p.Pro1095=)
c.2745T>G (p.Pro915=)
c.3072T>G (p.Pro1024=)
c.3093T>G (p.Pro1031=)
 dbSNP
4g.113333058G>ACA357935826ANK2c.3370G>A (p.Val1124Met)
c.3310G>A (p.Val1104Met)
n.1412G>A
n.866G>A
n.74G>A
n.6492G>A
n.4866G>A
n.845G>A
n.2242G>A
n.1609G>A
n.955G>A
n.1373G>A
n.1824G>A
c.3229G>A (p.Val1077Met)
c.3067G>A (p.Val1023Met)
c.616G>A (p.Val206Met)
c.3043G>A (p.Val1015Met)
c.3130G>A (p.Val1044Met)
c.3265G>A (p.Val1089Met)
c.3166G>A (p.Val1056Met)
c.3103G>A (p.Val1035Met)
c.2968G>A (p.Val990Met)
c.3046G>A (p.Val1016Met)
c.2845G>A (p.Val949Met)
c.2944G>A (p.Val982Met)
c.3274G>A (p.Val1092Met)
c.3079G>A (p.Val1027Met)
c.3052G>A (p.Val1018Met)
c.3031G>A (p.Val1011Met)
c.3004G>A (p.Val1002Met)
c.3202G>A (p.Val1068Met)
c.793G>A (p.Val265Met)
c.2647G>A (p.Val883Met)
c.757G>A (p.Val253Met)
c.3175G>A (p.Val1059Met)
c.3028G>A (p.Val1010Met)
c.2737G>A (p.Val913Met)
c.2887G>A (p.Val963Met)
n.77G>A
c.266G>A
c.3142G>A (p.Val1048Met)
c.3262G>A (p.Val1088Met)
c.3226G>A (p.Val1076Met)
c.3316G>A (p.Val1106Met)
c.3280G>A (p.Val1094Met)
c.3256G>A (p.Val1086Met)
c.3301G>A (p.Val1101Met)
c.3241G>A (p.Val1081Met)
c.3208G>A (p.Val1070Met)
c.3271G>A (p.Val1091Met)
c.3127G>A (p.Val1043Met)
c.3307G>A (p.Val1103Met)
c.3199G>A (p.Val1067Met)
c.3163G>A (p.Val1055Met)
c.3178G>A (p.Val1060Met)
c.3088G>A (p.Val1030Met)
c.3016G>A (p.Val1006Met)
c.3100G>A (p.Val1034Met)
c.2929G>A (p.Val977Met)
c.3346G>A (p.Val1116Met)
c.3232G>A (p.Val1078Met)
c.3214G>A (p.Val1072Met)
c.3286G>A (p.Val1096Met)
c.2746G>A (p.Val916Met)
c.3073G>A (p.Val1025Met)
c.3094G>A (p.Val1032Met)
 dbSNP
4g.113333058G>CCA357935828ANK2c.3370G>C (p.Val1124Leu)
c.3310G>C (p.Val1104Leu)
n.1412G>C
n.866G>C
n.74G>C
n.6492G>C
n.4866G>C
n.845G>C
n.2242G>C
n.1609G>C
n.955G>C
n.1373G>C
n.1824G>C
c.3229G>C (p.Val1077Leu)
c.3067G>C (p.Val1023Leu)
c.616G>C (p.Val206Leu)
c.3043G>C (p.Val1015Leu)
c.3130G>C (p.Val1044Leu)
c.3265G>C (p.Val1089Leu)
c.3166G>C (p.Val1056Leu)
c.3103G>C (p.Val1035Leu)
c.2968G>C (p.Val990Leu)
c.3046G>C (p.Val1016Leu)
c.2845G>C (p.Val949Leu)
c.2944G>C (p.Val982Leu)
c.3274G>C (p.Val1092Leu)
c.3079G>C (p.Val1027Leu)
c.3052G>C (p.Val1018Leu)
c.3031G>C (p.Val1011Leu)
c.3004G>C (p.Val1002Leu)
c.3202G>C (p.Val1068Leu)
c.793G>C (p.Val265Leu)
c.2647G>C (p.Val883Leu)
c.757G>C (p.Val253Leu)
c.3175G>C (p.Val1059Leu)
c.3028G>C (p.Val1010Leu)
c.2737G>C (p.Val913Leu)
c.2887G>C (p.Val963Leu)
n.77G>C
c.266G>C
c.3142G>C (p.Val1048Leu)
c.3262G>C (p.Val1088Leu)
c.3226G>C (p.Val1076Leu)
c.3316G>C (p.Val1106Leu)
c.3280G>C (p.Val1094Leu)
c.3256G>C (p.Val1086Leu)
c.3301G>C (p.Val1101Leu)
c.3241G>C (p.Val1081Leu)
c.3208G>C (p.Val1070Leu)
c.3271G>C (p.Val1091Leu)
c.3127G>C (p.Val1043Leu)
c.3307G>C (p.Val1103Leu)
c.3199G>C (p.Val1067Leu)
c.3163G>C (p.Val1055Leu)
c.3178G>C (p.Val1060Leu)
c.3088G>C (p.Val1030Leu)
c.3016G>C (p.Val1006Leu)
c.3100G>C (p.Val1034Leu)
c.2929G>C (p.Val977Leu)
c.3346G>C (p.Val1116Leu)
c.3232G>C (p.Val1078Leu)
c.3214G>C (p.Val1072Leu)
c.3286G>C (p.Val1096Leu)
c.2746G>C (p.Val916Leu)
c.3073G>C (p.Val1025Leu)
c.3094G>C (p.Val1032Leu)
 dbSNP
4g.113333058G>TCA357935830ANK2c.3370G>T (p.Val1124Leu)
c.3310G>T (p.Val1104Leu)
n.1412G>T
n.866G>T
n.74G>T
n.6492G>T
n.4866G>T
n.845G>T
n.2242G>T
n.1609G>T
n.955G>T
n.1373G>T
n.1824G>T
c.3229G>T (p.Val1077Leu)
c.3067G>T (p.Val1023Leu)
c.616G>T (p.Val206Leu)
c.3043G>T (p.Val1015Leu)
c.3130G>T (p.Val1044Leu)
c.3265G>T (p.Val1089Leu)
c.3166G>T (p.Val1056Leu)
c.3103G>T (p.Val1035Leu)
c.2968G>T (p.Val990Leu)
c.3046G>T (p.Val1016Leu)
c.2845G>T (p.Val949Leu)
c.2944G>T (p.Val982Leu)
c.3274G>T (p.Val1092Leu)
c.3079G>T (p.Val1027Leu)
c.3052G>T (p.Val1018Leu)
c.3031G>T (p.Val1011Leu)
c.3004G>T (p.Val1002Leu)
c.3202G>T (p.Val1068Leu)
c.793G>T (p.Val265Leu)
c.2647G>T (p.Val883Leu)
c.757G>T (p.Val253Leu)
c.3175G>T (p.Val1059Leu)
c.3028G>T (p.Val1010Leu)
c.2737G>T (p.Val913Leu)
c.2887G>T (p.Val963Leu)
n.77G>T
c.266G>T
c.3142G>T (p.Val1048Leu)
c.3262G>T (p.Val1088Leu)
c.3226G>T (p.Val1076Leu)
c.3316G>T (p.Val1106Leu)
c.3280G>T (p.Val1094Leu)
c.3256G>T (p.Val1086Leu)
c.3301G>T (p.Val1101Leu)
c.3241G>T (p.Val1081Leu)
c.3208G>T (p.Val1070Leu)
c.3271G>T (p.Val1091Leu)
c.3127G>T (p.Val1043Leu)
c.3307G>T (p.Val1103Leu)
c.3199G>T (p.Val1067Leu)
c.3163G>T (p.Val1055Leu)
c.3178G>T (p.Val1060Leu)
c.3088G>T (p.Val1030Leu)
c.3016G>T (p.Val1006Leu)
c.3100G>T (p.Val1034Leu)
c.2929G>T (p.Val977Leu)
c.3346G>T (p.Val1116Leu)
c.3232G>T (p.Val1078Leu)
c.3214G>T (p.Val1072Leu)
c.3286G>T (p.Val1096Leu)
c.2746G>T (p.Val916Leu)
c.3073G>T (p.Val1025Leu)
c.3094G>T (p.Val1032Leu)
4g.113333059T>ACA357935836ANK2c.3371T>A (p.Val1124Glu)
c.3311T>A (p.Val1104Glu)
n.1413T>A
n.867T>A
n.75T>A
n.6493T>A
n.4867T>A
n.846T>A
n.2243T>A
n.1610T>A
n.956T>A
n.1374T>A
n.1825T>A
c.3230T>A (p.Val1077Glu)
c.3068T>A (p.Val1023Glu)
c.617T>A (p.Val206Glu)
c.3044T>A (p.Val1015Glu)
c.3131T>A (p.Val1044Glu)
c.3266T>A (p.Val1089Glu)
c.3167T>A (p.Val1056Glu)
c.3104T>A (p.Val1035Glu)
c.2969T>A (p.Val990Glu)
c.3047T>A (p.Val1016Glu)
c.2846T>A (p.Val949Glu)
c.2945T>A (p.Val982Glu)
c.3275T>A (p.Val1092Glu)
c.3080T>A (p.Val1027Glu)
c.3053T>A (p.Val1018Glu)
c.3032T>A (p.Val1011Glu)
c.3005T>A (p.Val1002Glu)
c.3203T>A (p.Val1068Glu)
c.794T>A (p.Val265Glu)
c.2648T>A (p.Val883Glu)
c.758T>A (p.Val253Glu)
c.3176T>A (p.Val1059Glu)
c.3029T>A (p.Val1010Glu)
c.2738T>A (p.Val913Glu)
c.2888T>A (p.Val963Glu)
n.78T>A
c.267T>A
c.3143T>A (p.Val1048Glu)
c.3263T>A (p.Val1088Glu)
c.3227T>A (p.Val1076Glu)
c.3317T>A (p.Val1106Glu)
c.3281T>A (p.Val1094Glu)
c.3257T>A (p.Val1086Glu)
c.3302T>A (p.Val1101Glu)
c.3242T>A (p.Val1081Glu)
c.3209T>A (p.Val1070Glu)
c.3272T>A (p.Val1091Glu)
c.3128T>A (p.Val1043Glu)
c.3308T>A (p.Val1103Glu)
c.3200T>A (p.Val1067Glu)
c.3164T>A (p.Val1055Glu)
c.3179T>A (p.Val1060Glu)
c.3089T>A (p.Val1030Glu)
c.3017T>A (p.Val1006Glu)
c.3101T>A (p.Val1034Glu)
c.2930T>A (p.Val977Glu)
c.3347T>A (p.Val1116Glu)
c.3233T>A (p.Val1078Glu)
c.3215T>A (p.Val1072Glu)
c.3287T>A (p.Val1096Glu)
c.2747T>A (p.Val916Glu)
c.3074T>A (p.Val1025Glu)
c.3095T>A (p.Val1032Glu)
 dbSNP
4g.113333059T>CCA357935834ANK2c.3371T>C (p.Val1124Ala)
c.3311T>C (p.Val1104Ala)
n.1413T>C
n.867T>C
n.75T>C
n.6493T>C
n.4867T>C
n.846T>C
n.2243T>C
n.1610T>C
n.956T>C
n.1374T>C
n.1825T>C
c.3230T>C (p.Val1077Ala)
c.3068T>C (p.Val1023Ala)
c.617T>C (p.Val206Ala)
c.3044T>C (p.Val1015Ala)
c.3131T>C (p.Val1044Ala)
c.3266T>C (p.Val1089Ala)
c.3167T>C (p.Val1056Ala)
c.3104T>C (p.Val1035Ala)
c.2969T>C (p.Val990Ala)
c.3047T>C (p.Val1016Ala)
c.2846T>C (p.Val949Ala)
c.2945T>C (p.Val982Ala)
c.3275T>C (p.Val1092Ala)
c.3080T>C (p.Val1027Ala)
c.3053T>C (p.Val1018Ala)
c.3032T>C (p.Val1011Ala)
c.3005T>C (p.Val1002Ala)
c.3203T>C (p.Val1068Ala)
c.794T>C (p.Val265Ala)
c.2648T>C (p.Val883Ala)
c.758T>C (p.Val253Ala)
c.3176T>C (p.Val1059Ala)
c.3029T>C (p.Val1010Ala)
c.2738T>C (p.Val913Ala)
c.2888T>C (p.Val963Ala)
n.78T>C
c.267T>C
c.3143T>C (p.Val1048Ala)
c.3263T>C (p.Val1088Ala)
c.3227T>C (p.Val1076Ala)
c.3317T>C (p.Val1106Ala)
c.3281T>C (p.Val1094Ala)
c.3257T>C (p.Val1086Ala)
c.3302T>C (p.Val1101Ala)
c.3242T>C (p.Val1081Ala)
c.3209T>C (p.Val1070Ala)
c.3272T>C (p.Val1091Ala)
c.3128T>C (p.Val1043Ala)
c.3308T>C (p.Val1103Ala)
c.3200T>C (p.Val1067Ala)
c.3164T>C (p.Val1055Ala)
c.3179T>C (p.Val1060Ala)
c.3089T>C (p.Val1030Ala)
c.3017T>C (p.Val1006Ala)
c.3101T>C (p.Val1034Ala)
c.2930T>C (p.Val977Ala)
c.3347T>C (p.Val1116Ala)
c.3233T>C (p.Val1078Ala)
c.3215T>C (p.Val1072Ala)
c.3287T>C (p.Val1096Ala)
c.2747T>C (p.Val916Ala)
c.3074T>C (p.Val1025Ala)
c.3095T>C (p.Val1032Ala)
 dbSNP
4g.113333059T>GCA357935832ANK2c.3371T>G (p.Val1124Gly)
c.3311T>G (p.Val1104Gly)
n.1413T>G
n.867T>G
n.75T>G
n.6493T>G
n.4867T>G
n.846T>G
n.2243T>G
n.1610T>G
n.956T>G
n.1374T>G
n.1825T>G
c.3230T>G (p.Val1077Gly)
c.3068T>G (p.Val1023Gly)
c.617T>G (p.Val206Gly)
c.3044T>G (p.Val1015Gly)
c.3131T>G (p.Val1044Gly)
c.3266T>G (p.Val1089Gly)
c.3167T>G (p.Val1056Gly)
c.3104T>G (p.Val1035Gly)
c.2969T>G (p.Val990Gly)
c.3047T>G (p.Val1016Gly)
c.2846T>G (p.Val949Gly)
c.2945T>G (p.Val982Gly)
c.3275T>G (p.Val1092Gly)
c.3080T>G (p.Val1027Gly)
c.3053T>G (p.Val1018Gly)
c.3032T>G (p.Val1011Gly)
c.3005T>G (p.Val1002Gly)
c.3203T>G (p.Val1068Gly)
c.794T>G (p.Val265Gly)
c.2648T>G (p.Val883Gly)
c.758T>G (p.Val253Gly)
c.3176T>G (p.Val1059Gly)
c.3029T>G (p.Val1010Gly)
c.2738T>G (p.Val913Gly)
c.2888T>G (p.Val963Gly)
n.78T>G
c.267T>G
c.3143T>G (p.Val1048Gly)
c.3263T>G (p.Val1088Gly)
c.3227T>G (p.Val1076Gly)
c.3317T>G (p.Val1106Gly)
c.3281T>G (p.Val1094Gly)
c.3257T>G (p.Val1086Gly)
c.3302T>G (p.Val1101Gly)
c.3242T>G (p.Val1081Gly)
c.3209T>G (p.Val1070Gly)
c.3272T>G (p.Val1091Gly)
c.3128T>G (p.Val1043Gly)
c.3308T>G (p.Val1103Gly)
c.3200T>G (p.Val1067Gly)
c.3164T>G (p.Val1055Gly)
c.3179T>G (p.Val1060Gly)
c.3089T>G (p.Val1030Gly)
c.3017T>G (p.Val1006Gly)
c.3101T>G (p.Val1034Gly)
c.2930T>G (p.Val977Gly)
c.3347T>G (p.Val1116Gly)
c.3233T>G (p.Val1078Gly)
c.3215T>G (p.Val1072Gly)
c.3287T>G (p.Val1096Gly)
c.2747T>G (p.Val916Gly)
c.3074T>G (p.Val1025Gly)
c.3095T>G (p.Val1032Gly)
 dbSNP
4g.113333060G>ACA440842772ANK2c.3372G>A (p.Val1124=)
c.3312G>A (p.Val1104=)
n.1414G>A
n.868G>A
n.76G>A
n.6494G>A
n.4868G>A
n.847G>A
n.2244G>A
n.1611G>A
n.957G>A
n.1375G>A
n.1826G>A
c.3231G>A (p.Val1077=)
c.3069G>A (p.Val1023=)
c.618G>A (p.Val206=)
c.3045G>A (p.Val1015=)
c.3132G>A (p.Val1044=)
c.3267G>A (p.Val1089=)
c.3168G>A (p.Val1056=)
c.3105G>A (p.Val1035=)
c.2970G>A (p.Val990=)
c.3048G>A (p.Val1016=)
c.2847G>A (p.Val949=)
c.2946G>A (p.Val982=)
c.3276G>A (p.Val1092=)
c.3081G>A (p.Val1027=)
c.3054G>A (p.Val1018=)
c.3033G>A (p.Val1011=)
c.3006G>A (p.Val1002=)
c.3204G>A (p.Val1068=)
c.795G>A (p.Val265=)
c.2649G>A (p.Val883=)
c.759G>A (p.Val253=)
c.3177G>A (p.Val1059=)
c.3030G>A (p.Val1010=)
c.2739G>A (p.Val913=)
c.2889G>A (p.Val963=)
n.79G>A
c.268G>A
c.3144G>A (p.Val1048=)
c.3264G>A (p.Val1088=)
c.3228G>A (p.Val1076=)
c.3318G>A (p.Val1106=)
c.3282G>A (p.Val1094=)
c.3258G>A (p.Val1086=)
c.3303G>A (p.Val1101=)
c.3243G>A (p.Val1081=)
c.3210G>A (p.Val1070=)
c.3273G>A (p.Val1091=)
c.3129G>A (p.Val1043=)
c.3309G>A (p.Val1103=)
c.3201G>A (p.Val1067=)
c.3165G>A (p.Val1055=)
c.3180G>A (p.Val1060=)
c.3090G>A (p.Val1030=)
c.3018G>A (p.Val1006=)
c.3102G>A (p.Val1034=)
c.2931G>A (p.Val977=)
c.3348G>A (p.Val1116=)
c.3234G>A (p.Val1078=)
c.3216G>A (p.Val1072=)
c.3288G>A (p.Val1096=)
c.2748G>A (p.Val916=)
c.3075G>A (p.Val1025=)
c.3096G>A (p.Val1032=)
 dbSNP
4g.113333060G>CCA440842773ANK2c.3372G>C (p.Val1124=)
c.3312G>C (p.Val1104=)
n.1414G>C
n.868G>C
n.76G>C
n.6494G>C
n.4868G>C
n.847G>C
n.2244G>C
n.1611G>C
n.957G>C
n.1375G>C
n.1826G>C
c.3231G>C (p.Val1077=)
c.3069G>C (p.Val1023=)
c.618G>C (p.Val206=)
c.3045G>C (p.Val1015=)
c.3132G>C (p.Val1044=)
c.3267G>C (p.Val1089=)
c.3168G>C (p.Val1056=)
c.3105G>C (p.Val1035=)
c.2970G>C (p.Val990=)
c.3048G>C (p.Val1016=)
c.2847G>C (p.Val949=)
c.2946G>C (p.Val982=)
c.3276G>C (p.Val1092=)
c.3081G>C (p.Val1027=)
c.3054G>C (p.Val1018=)
c.3033G>C (p.Val1011=)
c.3006G>C (p.Val1002=)
c.3204G>C (p.Val1068=)
c.795G>C (p.Val265=)
c.2649G>C (p.Val883=)
c.759G>C (p.Val253=)
c.3177G>C (p.Val1059=)
c.3030G>C (p.Val1010=)
c.2739G>C (p.Val913=)
c.2889G>C (p.Val963=)
n.79G>C
c.268G>C
c.3144G>C (p.Val1048=)
c.3264G>C (p.Val1088=)
c.3228G>C (p.Val1076=)
c.3318G>C (p.Val1106=)
c.3282G>C (p.Val1094=)
c.3258G>C (p.Val1086=)
c.3303G>C (p.Val1101=)
c.3243G>C (p.Val1081=)
c.3210G>C (p.Val1070=)
c.3273G>C (p.Val1091=)
c.3129G>C (p.Val1043=)
c.3309G>C (p.Val1103=)
c.3201G>C (p.Val1067=)
c.3165G>C (p.Val1055=)
c.3180G>C (p.Val1060=)
c.3090G>C (p.Val1030=)
c.3018G>C (p.Val1006=)
c.3102G>C (p.Val1034=)
c.2931G>C (p.Val977=)
c.3348G>C (p.Val1116=)
c.3234G>C (p.Val1078=)
c.3216G>C (p.Val1072=)
c.3288G>C (p.Val1096=)
c.2748G>C (p.Val916=)
c.3075G>C (p.Val1025=)
c.3096G>C (p.Val1032=)
 dbSNP
4g.113333060G>TCA440842774ANK2c.3372G>T (p.Val1124=)
c.3312G>T (p.Val1104=)
n.1414G>T
n.868G>T
n.76G>T
n.6494G>T
n.4868G>T
n.847G>T
n.2244G>T
n.1611G>T
n.957G>T
n.1375G>T
n.1826G>T
c.3231G>T (p.Val1077=)
c.3069G>T (p.Val1023=)
c.618G>T (p.Val206=)
c.3045G>T (p.Val1015=)
c.3132G>T (p.Val1044=)
c.3267G>T (p.Val1089=)
c.3168G>T (p.Val1056=)
c.3105G>T (p.Val1035=)
c.2970G>T (p.Val990=)
c.3048G>T (p.Val1016=)
c.2847G>T (p.Val949=)
c.2946G>T (p.Val982=)
c.3276G>T (p.Val1092=)
c.3081G>T (p.Val1027=)
c.3054G>T (p.Val1018=)
c.3033G>T (p.Val1011=)
c.3006G>T (p.Val1002=)
c.3204G>T (p.Val1068=)
c.795G>T (p.Val265=)
c.2649G>T (p.Val883=)
c.759G>T (p.Val253=)
c.3177G>T (p.Val1059=)
c.3030G>T (p.Val1010=)
c.2739G>T (p.Val913=)
c.2889G>T (p.Val963=)
n.79G>T
c.268G>T
c.3144G>T (p.Val1048=)
c.3264G>T (p.Val1088=)
c.3228G>T (p.Val1076=)
c.3318G>T (p.Val1106=)
c.3282G>T (p.Val1094=)
c.3258G>T (p.Val1086=)
c.3303G>T (p.Val1101=)
c.3243G>T (p.Val1081=)
c.3210G>T (p.Val1070=)
c.3273G>T (p.Val1091=)
c.3129G>T (p.Val1043=)
c.3309G>T (p.Val1103=)
c.3201G>T (p.Val1067=)
c.3165G>T (p.Val1055=)
c.3180G>T (p.Val1060=)
c.3090G>T (p.Val1030=)
c.3018G>T (p.Val1006=)
c.3102G>T (p.Val1034=)
c.2931G>T (p.Val977=)
c.3348G>T (p.Val1116=)
c.3234G>T (p.Val1078=)
c.3216G>T (p.Val1072=)
c.3288G>T (p.Val1096=)
c.2748G>T (p.Val916=)
c.3075G>T (p.Val1025=)
c.3096G>T (p.Val1032=)
4g.113333061A>CCA357935837ANK2c.3373A>C (p.Ile1125Leu)
c.3313A>C (p.Ile1105Leu)
n.1415A>C
n.869A>C
n.77A>C
n.6495A>C
n.4869A>C
n.848A>C
n.2245A>C
n.1612A>C
n.958A>C
n.1376A>C
n.1827A>C
c.3232A>C (p.Ile1078Leu)
c.3070A>C (p.Ile1024Leu)
c.619A>C (p.Ile207Leu)
c.3046A>C (p.Ile1016Leu)
c.3133A>C (p.Ile1045Leu)
c.3268A>C (p.Ile1090Leu)
c.3169A>C (p.Ile1057Leu)
c.3106A>C (p.Ile1036Leu)
c.2971A>C (p.Ile991Leu)
c.3049A>C (p.Ile1017Leu)
c.2848A>C (p.Ile950Leu)
c.2947A>C (p.Ile983Leu)
c.3277A>C (p.Ile1093Leu)
c.3082A>C (p.Ile1028Leu)
c.3055A>C (p.Ile1019Leu)
c.3034A>C (p.Ile1012Leu)
c.3007A>C (p.Ile1003Leu)
c.3205A>C (p.Ile1069Leu)
c.796A>C (p.Ile266Leu)
c.2650A>C (p.Ile884Leu)
c.760A>C (p.Ile254Leu)
c.3178A>C (p.Ile1060Leu)
c.3031A>C (p.Ile1011Leu)
c.2740A>C (p.Ile914Leu)
c.2890A>C (p.Ile964Leu)
n.80A>C
c.269A>C
c.3145A>C (p.Ile1049Leu)
c.3265A>C (p.Ile1089Leu)
c.3229A>C (p.Ile1077Leu)
c.3319A>C (p.Ile1107Leu)
c.3283A>C (p.Ile1095Leu)
c.3259A>C (p.Ile1087Leu)
c.3304A>C (p.Ile1102Leu)
c.3244A>C (p.Ile1082Leu)
c.3211A>C (p.Ile1071Leu)
c.3274A>C (p.Ile1092Leu)
c.3130A>C (p.Ile1044Leu)
c.3310A>C (p.Ile1104Leu)
c.3202A>C (p.Ile1068Leu)
c.3166A>C (p.Ile1056Leu)
c.3181A>C (p.Ile1061Leu)
c.3091A>C (p.Ile1031Leu)
c.3019A>C (p.Ile1007Leu)
c.3103A>C (p.Ile1035Leu)
c.2932A>C (p.Ile978Leu)
c.3349A>C (p.Ile1117Leu)
c.3235A>C (p.Ile1079Leu)
c.3217A>C (p.Ile1073Leu)
c.3289A>C (p.Ile1097Leu)
c.2749A>C (p.Ile917Leu)
c.3076A>C (p.Ile1026Leu)
c.3097A>C (p.Ile1033Leu)
4g.113333061A>GCA357935838ANK2c.3373A>G (p.Ile1125Val)
c.3313A>G (p.Ile1105Val)
n.1415A>G
n.869A>G
n.77A>G
n.6495A>G
n.4869A>G
n.848A>G
n.2245A>G
n.1612A>G
n.958A>G
n.1376A>G
n.1827A>G
c.3232A>G (p.Ile1078Val)
c.3070A>G (p.Ile1024Val)
c.619A>G (p.Ile207Val)
c.3046A>G (p.Ile1016Val)
c.3133A>G (p.Ile1045Val)
c.3268A>G (p.Ile1090Val)
c.3169A>G (p.Ile1057Val)
c.3106A>G (p.Ile1036Val)
c.2971A>G (p.Ile991Val)
c.3049A>G (p.Ile1017Val)
c.2848A>G (p.Ile950Val)
c.2947A>G (p.Ile983Val)
c.3277A>G (p.Ile1093Val)
c.3082A>G (p.Ile1028Val)
c.3055A>G (p.Ile1019Val)
c.3034A>G (p.Ile1012Val)
c.3007A>G (p.Ile1003Val)
c.3205A>G (p.Ile1069Val)
c.796A>G (p.Ile266Val)
c.2650A>G (p.Ile884Val)
c.760A>G (p.Ile254Val)
c.3178A>G (p.Ile1060Val)
c.3031A>G (p.Ile1011Val)
c.2740A>G (p.Ile914Val)
c.2890A>G (p.Ile964Val)
n.80A>G
c.269A>G
c.3145A>G (p.Ile1049Val)
c.3265A>G (p.Ile1089Val)
c.3229A>G (p.Ile1077Val)
c.3319A>G (p.Ile1107Val)
c.3283A>G (p.Ile1095Val)
c.3259A>G (p.Ile1087Val)
c.3304A>G (p.Ile1102Val)
c.3244A>G (p.Ile1082Val)
c.3211A>G (p.Ile1071Val)
c.3274A>G (p.Ile1092Val)
c.3130A>G (p.Ile1044Val)
c.3310A>G (p.Ile1104Val)
c.3202A>G (p.Ile1068Val)
c.3166A>G (p.Ile1056Val)
c.3181A>G (p.Ile1061Val)
c.3091A>G (p.Ile1031Val)
c.3019A>G (p.Ile1007Val)
c.3103A>G (p.Ile1035Val)
c.2932A>G (p.Ile978Val)
c.3349A>G (p.Ile1117Val)
c.3235A>G (p.Ile1079Val)
c.3217A>G (p.Ile1073Val)
c.3289A>G (p.Ile1097Val)
c.2749A>G (p.Ile917Val)
c.3076A>G (p.Ile1026Val)
c.3097A>G (p.Ile1033Val)
 ClinVar dbSNP gnomAD v4
4g.113333061A>TCA357935840ANK2c.3373A>T (p.Ile1125Phe)
c.3313A>T (p.Ile1105Phe)
n.1415A>T
n.869A>T
n.77A>T
n.6495A>T
n.4869A>T
n.848A>T
n.2245A>T
n.1612A>T
n.958A>T
n.1376A>T
n.1827A>T
c.3232A>T (p.Ile1078Phe)
c.3070A>T (p.Ile1024Phe)
c.619A>T (p.Ile207Phe)
c.3046A>T (p.Ile1016Phe)
c.3133A>T (p.Ile1045Phe)
c.3268A>T (p.Ile1090Phe)
c.3169A>T (p.Ile1057Phe)
c.3106A>T (p.Ile1036Phe)
c.2971A>T (p.Ile991Phe)
c.3049A>T (p.Ile1017Phe)
c.2848A>T (p.Ile950Phe)
c.2947A>T (p.Ile983Phe)
c.3277A>T (p.Ile1093Phe)
c.3082A>T (p.Ile1028Phe)
c.3055A>T (p.Ile1019Phe)
c.3034A>T (p.Ile1012Phe)
c.3007A>T (p.Ile1003Phe)
c.3205A>T (p.Ile1069Phe)
c.796A>T (p.Ile266Phe)
c.2650A>T (p.Ile884Phe)
c.760A>T (p.Ile254Phe)
c.3178A>T (p.Ile1060Phe)
c.3031A>T (p.Ile1011Phe)
c.2740A>T (p.Ile914Phe)
c.2890A>T (p.Ile964Phe)
n.80A>T
c.269A>T
c.3145A>T (p.Ile1049Phe)
c.3265A>T (p.Ile1089Phe)
c.3229A>T (p.Ile1077Phe)
c.3319A>T (p.Ile1107Phe)
c.3283A>T (p.Ile1095Phe)
c.3259A>T (p.Ile1087Phe)
c.3304A>T (p.Ile1102Phe)
c.3244A>T (p.Ile1082Phe)
c.3211A>T (p.Ile1071Phe)
c.3274A>T (p.Ile1092Phe)
c.3130A>T (p.Ile1044Phe)
c.3310A>T (p.Ile1104Phe)
c.3202A>T (p.Ile1068Phe)
c.3166A>T (p.Ile1056Phe)
c.3181A>T (p.Ile1061Phe)
c.3091A>T (p.Ile1031Phe)
c.3019A>T (p.Ile1007Phe)
c.3103A>T (p.Ile1035Phe)
c.2932A>T (p.Ile978Phe)
c.3349A>T (p.Ile1117Phe)
c.3235A>T (p.Ile1079Phe)
c.3217A>T (p.Ile1073Phe)
c.3289A>T (p.Ile1097Phe)
c.2749A>T (p.Ile917Phe)
c.3076A>T (p.Ile1026Phe)
c.3097A>T (p.Ile1033Phe)
 dbSNP
4g.113333062T>ACA357935842ANK2c.3374T>A (p.Ile1125Asn)
c.3314T>A (p.Ile1105Asn)
n.1416T>A
n.870T>A
n.78T>A
n.6496T>A
n.4870T>A
n.849T>A
n.2246T>A
n.1613T>A
n.959T>A
n.1377T>A
n.1828T>A
c.3233T>A (p.Ile1078Asn)
c.3071T>A (p.Ile1024Asn)
c.620T>A (p.Ile207Asn)
c.3047T>A (p.Ile1016Asn)
c.3134T>A (p.Ile1045Asn)
c.3269T>A (p.Ile1090Asn)
c.3170T>A (p.Ile1057Asn)
c.3107T>A (p.Ile1036Asn)
c.2972T>A (p.Ile991Asn)
c.3050T>A (p.Ile1017Asn)
c.2849T>A (p.Ile950Asn)
c.2948T>A (p.Ile983Asn)
c.3278T>A (p.Ile1093Asn)
c.3083T>A (p.Ile1028Asn)
c.3056T>A (p.Ile1019Asn)
c.3035T>A (p.Ile1012Asn)
c.3008T>A (p.Ile1003Asn)
c.3206T>A (p.Ile1069Asn)
c.797T>A (p.Ile266Asn)
c.2651T>A (p.Ile884Asn)
c.761T>A (p.Ile254Asn)
c.3179T>A (p.Ile1060Asn)
c.3032T>A (p.Ile1011Asn)
c.2741T>A (p.Ile914Asn)
c.2891T>A (p.Ile964Asn)
n.81T>A
c.270T>A
c.3146T>A (p.Ile1049Asn)
c.3266T>A (p.Ile1089Asn)
c.3230T>A (p.Ile1077Asn)
c.3320T>A (p.Ile1107Asn)
c.3284T>A (p.Ile1095Asn)
c.3260T>A (p.Ile1087Asn)
c.3305T>A (p.Ile1102Asn)
c.3245T>A (p.Ile1082Asn)
c.3212T>A (p.Ile1071Asn)
c.3275T>A (p.Ile1092Asn)
c.3131T>A (p.Ile1044Asn)
c.3311T>A (p.Ile1104Asn)
c.3203T>A (p.Ile1068Asn)
c.3167T>A (p.Ile1056Asn)
c.3182T>A (p.Ile1061Asn)
c.3092T>A (p.Ile1031Asn)
c.3020T>A (p.Ile1007Asn)
c.3104T>A (p.Ile1035Asn)
c.2933T>A (p.Ile978Asn)
c.3350T>A (p.Ile1117Asn)
c.3236T>A (p.Ile1079Asn)
c.3218T>A (p.Ile1073Asn)
c.3290T>A (p.Ile1097Asn)
c.2750T>A (p.Ile917Asn)
c.3077T>A (p.Ile1026Asn)
c.3098T>A (p.Ile1033Asn)
 dbSNP
4g.113333062T>CCA357935844ANK2c.3374T>C (p.Ile1125Thr)
c.3314T>C (p.Ile1105Thr)
n.1416T>C
n.870T>C
n.78T>C
n.6496T>C
n.4870T>C
n.849T>C
n.2246T>C
n.1613T>C
n.959T>C
n.1377T>C
n.1828T>C
c.3233T>C (p.Ile1078Thr)
c.3071T>C (p.Ile1024Thr)
c.620T>C (p.Ile207Thr)
c.3047T>C (p.Ile1016Thr)
c.3134T>C (p.Ile1045Thr)
c.3269T>C (p.Ile1090Thr)
c.3170T>C (p.Ile1057Thr)
c.3107T>C (p.Ile1036Thr)
c.2972T>C (p.Ile991Thr)
c.3050T>C (p.Ile1017Thr)
c.2849T>C (p.Ile950Thr)
c.2948T>C (p.Ile983Thr)
c.3278T>C (p.Ile1093Thr)
c.3083T>C (p.Ile1028Thr)
c.3056T>C (p.Ile1019Thr)
c.3035T>C (p.Ile1012Thr)
c.3008T>C (p.Ile1003Thr)
c.3206T>C (p.Ile1069Thr)
c.797T>C (p.Ile266Thr)
c.2651T>C (p.Ile884Thr)
c.761T>C (p.Ile254Thr)
c.3179T>C (p.Ile1060Thr)
c.3032T>C (p.Ile1011Thr)
c.2741T>C (p.Ile914Thr)
c.2891T>C (p.Ile964Thr)
n.81T>C
c.270T>C
c.3146T>C (p.Ile1049Thr)
c.3266T>C (p.Ile1089Thr)
c.3230T>C (p.Ile1077Thr)
c.3320T>C (p.Ile1107Thr)
c.3284T>C (p.Ile1095Thr)
c.3260T>C (p.Ile1087Thr)
c.3305T>C (p.Ile1102Thr)
c.3245T>C (p.Ile1082Thr)
c.3212T>C (p.Ile1071Thr)
c.3275T>C (p.Ile1092Thr)
c.3131T>C (p.Ile1044Thr)
c.3311T>C (p.Ile1104Thr)
c.3203T>C (p.Ile1068Thr)
c.3167T>C (p.Ile1056Thr)
c.3182T>C (p.Ile1061Thr)
c.3092T>C (p.Ile1031Thr)
c.3020T>C (p.Ile1007Thr)
c.3104T>C (p.Ile1035Thr)
c.2933T>C (p.Ile978Thr)
c.3350T>C (p.Ile1117Thr)
c.3236T>C (p.Ile1079Thr)
c.3218T>C (p.Ile1073Thr)
c.3290T>C (p.Ile1097Thr)
c.2750T>C (p.Ile917Thr)
c.3077T>C (p.Ile1026Thr)
c.3098T>C (p.Ile1033Thr)
 dbSNP
4g.113333062T>GCA357935845ANK2c.3374T>G (p.Ile1125Ser)
c.3314T>G (p.Ile1105Ser)
n.1416T>G
n.870T>G
n.78T>G
n.6496T>G
n.4870T>G
n.849T>G
n.2246T>G
n.1613T>G
n.959T>G
n.1377T>G
n.1828T>G
c.3233T>G (p.Ile1078Ser)
c.3071T>G (p.Ile1024Ser)
c.620T>G (p.Ile207Ser)
c.3047T>G (p.Ile1016Ser)
c.3134T>G (p.Ile1045Ser)
c.3269T>G (p.Ile1090Ser)
c.3170T>G (p.Ile1057Ser)
c.3107T>G (p.Ile1036Ser)
c.2972T>G (p.Ile991Ser)
c.3050T>G (p.Ile1017Ser)
c.2849T>G (p.Ile950Ser)
c.2948T>G (p.Ile983Ser)
c.3278T>G (p.Ile1093Ser)
c.3083T>G (p.Ile1028Ser)
c.3056T>G (p.Ile1019Ser)
c.3035T>G (p.Ile1012Ser)
c.3008T>G (p.Ile1003Ser)
c.3206T>G (p.Ile1069Ser)
c.797T>G (p.Ile266Ser)
c.2651T>G (p.Ile884Ser)
c.761T>G (p.Ile254Ser)
c.3179T>G (p.Ile1060Ser)
c.3032T>G (p.Ile1011Ser)
c.2741T>G (p.Ile914Ser)
c.2891T>G (p.Ile964Ser)
n.81T>G
c.270T>G
c.3146T>G (p.Ile1049Ser)
c.3266T>G (p.Ile1089Ser)
c.3230T>G (p.Ile1077Ser)
c.3320T>G (p.Ile1107Ser)
c.3284T>G (p.Ile1095Ser)
c.3260T>G (p.Ile1087Ser)
c.3305T>G (p.Ile1102Ser)
c.3245T>G (p.Ile1082Ser)
c.3212T>G (p.Ile1071Ser)
c.3275T>G (p.Ile1092Ser)
c.3131T>G (p.Ile1044Ser)
c.3311T>G (p.Ile1104Ser)
c.3203T>G (p.Ile1068Ser)
c.3167T>G (p.Ile1056Ser)
c.3182T>G (p.Ile1061Ser)
c.3092T>G (p.Ile1031Ser)
c.3020T>G (p.Ile1007Ser)
c.3104T>G (p.Ile1035Ser)
c.2933T>G (p.Ile978Ser)
c.3350T>G (p.Ile1117Ser)
c.3236T>G (p.Ile1079Ser)
c.3218T>G (p.Ile1073Ser)
c.3290T>G (p.Ile1097Ser)
c.2750T>G (p.Ile917Ser)
c.3077T>G (p.Ile1026Ser)
c.3098T>G (p.Ile1033Ser)
 dbSNP
4g.113333063C>ACA3050811ANK2c.3375C>A (p.Ile1125=)
c.3315C>A (p.Ile1105=)
n.1417C>A
n.871C>A
n.79C>A
n.6497C>A
n.4871C>A
n.850C>A
n.2247C>A
n.1614C>A
n.960C>A
n.1378C>A
n.1829C>A
c.3234C>A (p.Ile1078=)
c.3072C>A (p.Ile1024=)
c.621C>A (p.Ile207=)
c.3048C>A (p.Ile1016=)
c.3135C>A (p.Ile1045=)
c.3270C>A (p.Ile1090=)
c.3171C>A (p.Ile1057=)
c.3108C>A (p.Ile1036=)
c.2973C>A (p.Ile991=)
c.3051C>A (p.Ile1017=)
c.2850C>A (p.Ile950=)
c.2949C>A (p.Ile983=)
c.3279C>A (p.Ile1093=)
c.3084C>A (p.Ile1028=)
c.3057C>A (p.Ile1019=)
c.3036C>A (p.Ile1012=)
c.3009C>A (p.Ile1003=)
c.3207C>A (p.Ile1069=)
c.798C>A (p.Ile266=)
c.2652C>A (p.Ile884=)
c.762C>A (p.Ile254=)
c.3180C>A (p.Ile1060=)
c.3033C>A (p.Ile1011=)
c.2742C>A (p.Ile914=)
c.2892C>A (p.Ile964=)
n.82C>A
c.271C>A
c.3147C>A (p.Ile1049=)
c.3267C>A (p.Ile1089=)
c.3231C>A (p.Ile1077=)
c.3321C>A (p.Ile1107=)
c.3285C>A (p.Ile1095=)
c.3261C>A (p.Ile1087=)
c.3306C>A (p.Ile1102=)
c.3246C>A (p.Ile1082=)
c.3213C>A (p.Ile1071=)
c.3276C>A (p.Ile1092=)
c.3132C>A (p.Ile1044=)
c.3312C>A (p.Ile1104=)
c.3204C>A (p.Ile1068=)
c.3168C>A (p.Ile1056=)
c.3183C>A (p.Ile1061=)
c.3093C>A (p.Ile1031=)
c.3021C>A (p.Ile1007=)
c.3105C>A (p.Ile1035=)
c.2934C>A (p.Ile978=)
c.3351C>A (p.Ile1117=)
c.3237C>A (p.Ile1079=)
c.3219C>A (p.Ile1073=)
c.3291C>A (p.Ile1097=)
c.2751C>A (p.Ile917=)
c.3078C>A (p.Ile1026=)
c.3099C>A (p.Ile1033=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.113333063C>GCA357935849ANK2c.3375C>G (p.Ile1125Met)
c.3315C>G (p.Ile1105Met)
n.1417C>G
n.871C>G
n.79C>G
n.6497C>G
n.4871C>G
n.850C>G
n.2247C>G
n.1614C>G
n.960C>G
n.1378C>G
n.1829C>G
c.3234C>G (p.Ile1078Met)
c.3072C>G (p.Ile1024Met)
c.621C>G (p.Ile207Met)
c.3048C>G (p.Ile1016Met)
c.3135C>G (p.Ile1045Met)
c.3270C>G (p.Ile1090Met)
c.3171C>G (p.Ile1057Met)
c.3108C>G (p.Ile1036Met)
c.2973C>G (p.Ile991Met)
c.3051C>G (p.Ile1017Met)
c.2850C>G (p.Ile950Met)
c.2949C>G (p.Ile983Met)
c.3279C>G (p.Ile1093Met)
c.3084C>G (p.Ile1028Met)
c.3057C>G (p.Ile1019Met)
c.3036C>G (p.Ile1012Met)
c.3009C>G (p.Ile1003Met)
c.3207C>G (p.Ile1069Met)
c.798C>G (p.Ile266Met)
c.2652C>G (p.Ile884Met)
c.762C>G (p.Ile254Met)
c.3180C>G (p.Ile1060Met)
c.3033C>G (p.Ile1011Met)
c.2742C>G (p.Ile914Met)
c.2892C>G (p.Ile964Met)
n.82C>G
c.271C>G
c.3147C>G (p.Ile1049Met)
c.3267C>G (p.Ile1089Met)
c.3231C>G (p.Ile1077Met)
c.3321C>G (p.Ile1107Met)
c.3285C>G (p.Ile1095Met)
c.3261C>G (p.Ile1087Met)
c.3306C>G (p.Ile1102Met)
c.3246C>G (p.Ile1082Met)
c.3213C>G (p.Ile1071Met)
c.3276C>G (p.Ile1092Met)
c.3132C>G (p.Ile1044Met)
c.3312C>G (p.Ile1104Met)
c.3204C>G (p.Ile1068Met)
c.3168C>G (p.Ile1056Met)
c.3183C>G (p.Ile1061Met)
c.3093C>G (p.Ile1031Met)
c.3021C>G (p.Ile1007Met)
c.3105C>G (p.Ile1035Met)
c.2934C>G (p.Ile978Met)
c.3351C>G (p.Ile1117Met)
c.3237C>G (p.Ile1079Met)
c.3219C>G (p.Ile1073Met)
c.3291C>G (p.Ile1097Met)
c.2751C>G (p.Ile917Met)
c.3078C>G (p.Ile1026Met)
c.3099C>G (p.Ile1033Met)
4g.113333063C>TCA3050810ANK2c.3375C>T (p.Ile1125=)
c.3315C>T (p.Ile1105=)
n.1417C>T
n.871C>T
n.79C>T
n.6497C>T
n.4871C>T
n.850C>T
n.2247C>T
n.1614C>T
n.960C>T
n.1378C>T
n.1829C>T
c.3234C>T (p.Ile1078=)
c.3072C>T (p.Ile1024=)
c.621C>T (p.Ile207=)
c.3048C>T (p.Ile1016=)
c.3135C>T (p.Ile1045=)
c.3270C>T (p.Ile1090=)
c.3171C>T (p.Ile1057=)
c.3108C>T (p.Ile1036=)
c.2973C>T (p.Ile991=)
c.3051C>T (p.Ile1017=)
c.2850C>T (p.Ile950=)
c.2949C>T (p.Ile983=)
c.3279C>T (p.Ile1093=)
c.3084C>T (p.Ile1028=)
c.3057C>T (p.Ile1019=)
c.3036C>T (p.Ile1012=)
c.3009C>T (p.Ile1003=)
c.3207C>T (p.Ile1069=)
c.798C>T (p.Ile266=)
c.2652C>T (p.Ile884=)
c.762C>T (p.Ile254=)
c.3180C>T (p.Ile1060=)
c.3033C>T (p.Ile1011=)
c.2742C>T (p.Ile914=)
c.2892C>T (p.Ile964=)
n.82C>T
c.271C>T
c.3147C>T (p.Ile1049=)
c.3267C>T (p.Ile1089=)
c.3231C>T (p.Ile1077=)
c.3321C>T (p.Ile1107=)
c.3285C>T (p.Ile1095=)
c.3261C>T (p.Ile1087=)
c.3306C>T (p.Ile1102=)
c.3246C>T (p.Ile1082=)
c.3213C>T (p.Ile1071=)
c.3276C>T (p.Ile1092=)
c.3132C>T (p.Ile1044=)
c.3312C>T (p.Ile1104=)
c.3204C>T (p.Ile1068=)
c.3168C>T (p.Ile1056=)
c.3183C>T (p.Ile1061=)
c.3093C>T (p.Ile1031=)
c.3021C>T (p.Ile1007=)
c.3105C>T (p.Ile1035=)
c.2934C>T (p.Ile978=)
c.3351C>T (p.Ile1117=)
c.3237C>T (p.Ile1079=)
c.3219C>T (p.Ile1073=)
c.3291C>T (p.Ile1097=)
c.2751C>T (p.Ile917=)
c.3078C>T (p.Ile1026=)
c.3099C>T (p.Ile1033=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.113333064G>ACA16611578ANK2c.3376G>A (p.Val1126Met)
c.3316G>A (p.Val1106Met)
n.1418G>A
n.872G>A
n.80G>A
n.6498G>A
n.4872G>A
n.851G>A
n.2248G>A
n.1615G>A
n.961G>A
n.1379G>A
n.1830G>A
c.3235G>A (p.Val1079Met)
c.3073G>A (p.Val1025Met)
c.622G>A (p.Val208Met)
c.3049G>A (p.Val1017Met)
c.3136G>A (p.Val1046Met)
c.3271G>A (p.Val1091Met)
c.3172G>A (p.Val1058Met)
c.3109G>A (p.Val1037Met)
c.2974G>A (p.Val992Met)
c.3052G>A (p.Val1018Met)
c.2851G>A (p.Val951Met)
c.2950G>A (p.Val984Met)
c.3280G>A (p.Val1094Met)
c.3085G>A (p.Val1029Met)
c.3058G>A (p.Val1020Met)
c.3037G>A (p.Val1013Met)
c.3010G>A (p.Val1004Met)
c.3208G>A (p.Val1070Met)
c.799G>A (p.Val267Met)
c.2653G>A (p.Val885Met)
c.763G>A (p.Val255Met)
c.3181G>A (p.Val1061Met)
c.3034G>A (p.Val1012Met)
c.2743G>A (p.Val915Met)
c.2893G>A (p.Val965Met)
n.83G>A
c.272G>A
c.3148G>A (p.Val1050Met)
c.3268G>A (p.Val1090Met)
c.3232G>A (p.Val1078Met)
c.3322G>A (p.Val1108Met)
c.3286G>A (p.Val1096Met)
c.3262G>A (p.Val1088Met)
c.3307G>A (p.Val1103Met)
c.3247G>A (p.Val1083Met)
c.3214G>A (p.Val1072Met)
c.3277G>A (p.Val1093Met)
c.3133G>A (p.Val1045Met)
c.3313G>A (p.Val1105Met)
c.3205G>A (p.Val1069Met)
c.3169G>A (p.Val1057Met)
c.3184G>A (p.Val1062Met)
c.3094G>A (p.Val1032Met)
c.3022G>A (p.Val1008Met)
c.3106G>A (p.Val1036Met)
c.2935G>A (p.Val979Met)
c.3352G>A (p.Val1118Met)
c.3238G>A (p.Val1080Met)
c.3220G>A (p.Val1074Met)
c.3292G>A (p.Val1098Met)
c.2752G>A (p.Val918Met)
c.3079G>A (p.Val1027Met)
c.3100G>A (p.Val1034Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.113333064G>CCA357935853ANK2c.3376G>C (p.Val1126Leu)
c.3316G>C (p.Val1106Leu)
n.1418G>C
n.872G>C
n.80G>C
n.6498G>C
n.4872G>C
n.851G>C
n.2248G>C
n.1615G>C
n.961G>C
n.1379G>C
n.1830G>C
c.3235G>C (p.Val1079Leu)
c.3073G>C (p.Val1025Leu)
c.622G>C (p.Val208Leu)
c.3049G>C (p.Val1017Leu)
c.3136G>C (p.Val1046Leu)
c.3271G>C (p.Val1091Leu)
c.3172G>C (p.Val1058Leu)
c.3109G>C (p.Val1037Leu)
c.2974G>C (p.Val992Leu)
c.3052G>C (p.Val1018Leu)
c.2851G>C (p.Val951Leu)
c.2950G>C (p.Val984Leu)
c.3280G>C (p.Val1094Leu)
c.3085G>C (p.Val1029Leu)
c.3058G>C (p.Val1020Leu)
c.3037G>C (p.Val1013Leu)
c.3010G>C (p.Val1004Leu)
c.3208G>C (p.Val1070Leu)
c.799G>C (p.Val267Leu)
c.2653G>C (p.Val885Leu)
c.763G>C (p.Val255Leu)
c.3181G>C (p.Val1061Leu)
c.3034G>C (p.Val1012Leu)
c.2743G>C (p.Val915Leu)
c.2893G>C (p.Val965Leu)
n.83G>C
c.272G>C
c.3148G>C (p.Val1050Leu)
c.3268G>C (p.Val1090Leu)
c.3232G>C (p.Val1078Leu)
c.3322G>C (p.Val1108Leu)
c.3286G>C (p.Val1096Leu)
c.3262G>C (p.Val1088Leu)
c.3307G>C (p.Val1103Leu)
c.3247G>C (p.Val1083Leu)
c.3214G>C (p.Val1072Leu)
c.3277G>C (p.Val1093Leu)
c.3133G>C (p.Val1045Leu)
c.3313G>C (p.Val1105Leu)
c.3205G>C (p.Val1069Leu)
c.3169G>C (p.Val1057Leu)
c.3184G>C (p.Val1062Leu)
c.3094G>C (p.Val1032Leu)
c.3022G>C (p.Val1008Leu)
c.3106G>C (p.Val1036Leu)
c.2935G>C (p.Val979Leu)
c.3352G>C (p.Val1118Leu)
c.3238G>C (p.Val1080Leu)
c.3220G>C (p.Val1074Leu)
c.3292G>C (p.Val1098Leu)
c.2752G>C (p.Val918Leu)
c.3079G>C (p.Val1027Leu)
c.3100G>C (p.Val1034Leu)
 dbSNP gnomAD v4
4g.113333064G>TCA3050812ANK2c.3376G>T (p.Val1126Leu)
c.3316G>T (p.Val1106Leu)
n.1418G>T
n.872G>T
n.80G>T
n.6498G>T
n.4872G>T
n.851G>T
n.2248G>T
n.1615G>T
n.961G>T
n.1379G>T
n.1830G>T
c.3235G>T (p.Val1079Leu)
c.3073G>T (p.Val1025Leu)
c.622G>T (p.Val208Leu)
c.3049G>T (p.Val1017Leu)
c.3136G>T (p.Val1046Leu)
c.3271G>T (p.Val1091Leu)
c.3172G>T (p.Val1058Leu)
c.3109G>T (p.Val1037Leu)
c.2974G>T (p.Val992Leu)
c.3052G>T (p.Val1018Leu)
c.2851G>T (p.Val951Leu)
c.2950G>T (p.Val984Leu)
c.3280G>T (p.Val1094Leu)
c.3085G>T (p.Val1029Leu)
c.3058G>T (p.Val1020Leu)
c.3037G>T (p.Val1013Leu)
c.3010G>T (p.Val1004Leu)
c.3208G>T (p.Val1070Leu)
c.799G>T (p.Val267Leu)
c.2653G>T (p.Val885Leu)
c.763G>T (p.Val255Leu)
c.3181G>T (p.Val1061Leu)
c.3034G>T (p.Val1012Leu)
c.2743G>T (p.Val915Leu)
c.2893G>T (p.Val965Leu)
n.83G>T
c.272G>T
c.3148G>T (p.Val1050Leu)
c.3268G>T (p.Val1090Leu)
c.3232G>T (p.Val1078Leu)
c.3322G>T (p.Val1108Leu)
c.3286G>T (p.Val1096Leu)
c.3262G>T (p.Val1088Leu)
c.3307G>T (p.Val1103Leu)
c.3247G>T (p.Val1083Leu)
c.3214G>T (p.Val1072Leu)
c.3277G>T (p.Val1093Leu)
c.3133G>T (p.Val1045Leu)
c.3313G>T (p.Val1105Leu)
c.3205G>T (p.Val1069Leu)
c.3169G>T (p.Val1057Leu)
c.3184G>T (p.Val1062Leu)
c.3094G>T (p.Val1032Leu)
c.3022G>T (p.Val1008Leu)
c.3106G>T (p.Val1036Leu)
c.2935G>T (p.Val979Leu)
c.3352G>T (p.Val1118Leu)
c.3238G>T (p.Val1080Leu)
c.3220G>T (p.Val1074Leu)
c.3292G>T (p.Val1098Leu)
c.2752G>T (p.Val918Leu)
c.3079G>T (p.Val1027Leu)
c.3100G>T (p.Val1034Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.113333065T>ACA357935858ANK2c.3377T>A (p.Val1126Glu)
c.3317T>A (p.Val1106Glu)
n.1419T>A
n.873T>A
n.81T>A
n.6499T>A
n.4873T>A
n.852T>A
n.2249T>A
n.1616T>A
n.962T>A
n.1380T>A
n.1831T>A
c.3236T>A (p.Val1079Glu)
c.3074T>A (p.Val1025Glu)
c.623T>A (p.Val208Glu)
c.3050T>A (p.Val1017Glu)
c.3137T>A (p.Val1046Glu)
c.3272T>A (p.Val1091Glu)
c.3173T>A (p.Val1058Glu)
c.3110T>A (p.Val1037Glu)
c.2975T>A (p.Val992Glu)
c.3053T>A (p.Val1018Glu)
c.2852T>A (p.Val951Glu)
c.2951T>A (p.Val984Glu)
c.3281T>A (p.Val1094Glu)
c.3086T>A (p.Val1029Glu)
c.3059T>A (p.Val1020Glu)
c.3038T>A (p.Val1013Glu)
c.3011T>A (p.Val1004Glu)
c.3209T>A (p.Val1070Glu)
c.800T>A (p.Val267Glu)
c.2654T>A (p.Val885Glu)
c.764T>A (p.Val255Glu)
c.3182T>A (p.Val1061Glu)
c.3035T>A (p.Val1012Glu)
c.2744T>A (p.Val915Glu)
c.2894T>A (p.Val965Glu)
n.84T>A
c.273T>A
c.3149T>A (p.Val1050Glu)
c.3269T>A (p.Val1090Glu)
c.3233T>A (p.Val1078Glu)
c.3323T>A (p.Val1108Glu)
c.3287T>A (p.Val1096Glu)
c.3263T>A (p.Val1088Glu)
c.3308T>A (p.Val1103Glu)
c.3248T>A (p.Val1083Glu)
c.3215T>A (p.Val1072Glu)
c.3278T>A (p.Val1093Glu)
c.3134T>A (p.Val1045Glu)
c.3314T>A (p.Val1105Glu)
c.3206T>A (p.Val1069Glu)
c.3170T>A (p.Val1057Glu)
c.3185T>A (p.Val1062Glu)
c.3095T>A (p.Val1032Glu)
c.3023T>A (p.Val1008Glu)
c.3107T>A (p.Val1036Glu)
c.2936T>A (p.Val979Glu)
c.3353T>A (p.Val1118Glu)
c.3239T>A (p.Val1080Glu)
c.3221T>A (p.Val1074Glu)
c.3293T>A (p.Val1098Glu)
c.2753T>A (p.Val918Glu)
c.3080T>A (p.Val1027Glu)
c.3101T>A (p.Val1034Glu)
4g.113333065T>CCA357935861ANK2c.3377T>C (p.Val1126Ala)
c.3317T>C (p.Val1106Ala)
n.1419T>C
n.873T>C
n.81T>C
n.6499T>C
n.4873T>C
n.852T>C
n.2249T>C
n.1616T>C
n.962T>C
n.1380T>C
n.1831T>C
c.3236T>C (p.Val1079Ala)
c.3074T>C (p.Val1025Ala)
c.623T>C (p.Val208Ala)
c.3050T>C (p.Val1017Ala)
c.3137T>C (p.Val1046Ala)
c.3272T>C (p.Val1091Ala)
c.3173T>C (p.Val1058Ala)
c.3110T>C (p.Val1037Ala)
c.2975T>C (p.Val992Ala)
c.3053T>C (p.Val1018Ala)
c.2852T>C (p.Val951Ala)
c.2951T>C (p.Val984Ala)
c.3281T>C (p.Val1094Ala)
c.3086T>C (p.Val1029Ala)
c.3059T>C (p.Val1020Ala)
c.3038T>C (p.Val1013Ala)
c.3011T>C (p.Val1004Ala)
c.3209T>C (p.Val1070Ala)
c.800T>C (p.Val267Ala)
c.2654T>C (p.Val885Ala)
c.764T>C (p.Val255Ala)
c.3182T>C (p.Val1061Ala)
c.3035T>C (p.Val1012Ala)
c.2744T>C (p.Val915Ala)
c.2894T>C (p.Val965Ala)
n.84T>C
c.273T>C
c.3149T>C (p.Val1050Ala)
c.3269T>C (p.Val1090Ala)
c.3233T>C (p.Val1078Ala)
c.3323T>C (p.Val1108Ala)
c.3287T>C (p.Val1096Ala)
c.3263T>C (p.Val1088Ala)
c.3308T>C (p.Val1103Ala)
c.3248T>C (p.Val1083Ala)
c.3215T>C (p.Val1072Ala)
c.3278T>C (p.Val1093Ala)
c.3134T>C (p.Val1045Ala)
c.3314T>C (p.Val1105Ala)
c.3206T>C (p.Val1069Ala)
c.3170T>C (p.Val1057Ala)
c.3185T>C (p.Val1062Ala)
c.3095T>C (p.Val1032Ala)
c.3023T>C (p.Val1008Ala)
c.3107T>C (p.Val1036Ala)
c.2936T>C (p.Val979Ala)
c.3353T>C (p.Val1118Ala)
c.3239T>C (p.Val1080Ala)
c.3221T>C (p.Val1074Ala)
c.3293T>C (p.Val1098Ala)
c.2753T>C (p.Val918Ala)
c.3080T>C (p.Val1027Ala)
c.3101T>C (p.Val1034Ala)
4g.113333065T>GCA357935857ANK2c.3377T>G (p.Val1126Gly)
c.3317T>G (p.Val1106Gly)
n.1419T>G
n.873T>G
n.81T>G
n.6499T>G
n.4873T>G
n.852T>G
n.2249T>G
n.1616T>G
n.962T>G
n.1380T>G
n.1831T>G
c.3236T>G (p.Val1079Gly)
c.3074T>G (p.Val1025Gly)
c.623T>G (p.Val208Gly)
c.3050T>G (p.Val1017Gly)
c.3137T>G (p.Val1046Gly)
c.3272T>G (p.Val1091Gly)
c.3173T>G (p.Val1058Gly)
c.3110T>G (p.Val1037Gly)
c.2975T>G (p.Val992Gly)
c.3053T>G (p.Val1018Gly)
c.2852T>G (p.Val951Gly)
c.2951T>G (p.Val984Gly)
c.3281T>G (p.Val1094Gly)
c.3086T>G (p.Val1029Gly)
c.3059T>G (p.Val1020Gly)
c.3038T>G (p.Val1013Gly)
c.3011T>G (p.Val1004Gly)
c.3209T>G (p.Val1070Gly)
c.800T>G (p.Val267Gly)
c.2654T>G (p.Val885Gly)
c.764T>G (p.Val255Gly)
c.3182T>G (p.Val1061Gly)
c.3035T>G (p.Val1012Gly)
c.2744T>G (p.Val915Gly)
c.2894T>G (p.Val965Gly)
n.84T>G
c.273T>G
c.3149T>G (p.Val1050Gly)
c.3269T>G (p.Val1090Gly)
c.3233T>G (p.Val1078Gly)
c.3323T>G (p.Val1108Gly)
c.3287T>G (p.Val1096Gly)
c.3263T>G (p.Val1088Gly)
c.3308T>G (p.Val1103Gly)
c.3248T>G (p.Val1083Gly)
c.3215T>G (p.Val1072Gly)
c.3278T>G (p.Val1093Gly)
c.3134T>G (p.Val1045Gly)
c.3314T>G (p.Val1105Gly)
c.3206T>G (p.Val1069Gly)
c.3170T>G (p.Val1057Gly)
c.3185T>G (p.Val1062Gly)
c.3095T>G (p.Val1032Gly)
c.3023T>G (p.Val1008Gly)
c.3107T>G (p.Val1036Gly)
c.2936T>G (p.Val979Gly)
c.3353T>G (p.Val1118Gly)
c.3239T>G (p.Val1080Gly)
c.3221T>G (p.Val1074Gly)
c.3293T>G (p.Val1098Gly)
c.2753T>G (p.Val918Gly)
c.3080T>G (p.Val1027Gly)
c.3101T>G (p.Val1034Gly)
4g.113333066G>ACA440842781ANK2c.3378G>A (p.Val1126=)
c.3318G>A (p.Val1106=)
n.1420G>A
n.874G>A
n.82G>A
n.6500G>A
n.4874G>A
n.853G>A
n.2250G>A
n.1617G>A
n.963G>A
n.1381G>A
n.1832G>A
c.3237G>A (p.Val1079=)
c.3075G>A (p.Val1025=)
c.624G>A (p.Val208=)
c.3051G>A (p.Val1017=)
c.3138G>A (p.Val1046=)
c.3273G>A (p.Val1091=)
c.3174G>A (p.Val1058=)
c.3111G>A (p.Val1037=)
c.2976G>A (p.Val992=)
c.3054G>A (p.Val1018=)
c.2853G>A (p.Val951=)
c.2952G>A (p.Val984=)
c.3282G>A (p.Val1094=)
c.3087G>A (p.Val1029=)
c.3060G>A (p.Val1020=)
c.3039G>A (p.Val1013=)
c.3012G>A (p.Val1004=)
c.3210G>A (p.Val1070=)
c.801G>A (p.Val267=)
c.2655G>A (p.Val885=)
c.765G>A (p.Val255=)
c.3183G>A (p.Val1061=)
c.3036G>A (p.Val1012=)
c.2745G>A (p.Val915=)
c.2895G>A (p.Val965=)
n.85G>A
c.274G>A
c.3150G>A (p.Val1050=)
c.3270G>A (p.Val1090=)
c.3234G>A (p.Val1078=)
c.3324G>A (p.Val1108=)
c.3288G>A (p.Val1096=)
c.3264G>A (p.Val1088=)
c.3309G>A (p.Val1103=)
c.3249G>A (p.Val1083=)
c.3216G>A (p.Val1072=)
c.3279G>A (p.Val1093=)
c.3135G>A (p.Val1045=)
c.3315G>A (p.Val1105=)
c.3207G>A (p.Val1069=)
c.3171G>A (p.Val1057=)
c.3186G>A (p.Val1062=)
c.3096G>A (p.Val1032=)
c.3024G>A (p.Val1008=)
c.3108G>A (p.Val1036=)
c.2937G>A (p.Val979=)
c.3354G>A (p.Val1118=)
c.3240G>A (p.Val1080=)
c.3222G>A (p.Val1074=)
c.3294G>A (p.Val1098=)
c.2754G>A (p.Val918=)
c.3081G>A (p.Val1027=)
c.3102G>A (p.Val1034=)
 dbSNP
4g.113333066G>CCA440842782ANK2c.3378G>C (p.Val1126=)
c.3318G>C (p.Val1106=)
n.1420G>C
n.874G>C
n.82G>C
n.6500G>C
n.4874G>C
n.853G>C
n.2250G>C
n.1617G>C
n.963G>C
n.1381G>C
n.1832G>C
c.3237G>C (p.Val1079=)
c.3075G>C (p.Val1025=)
c.624G>C (p.Val208=)
c.3051G>C (p.Val1017=)
c.3138G>C (p.Val1046=)
c.3273G>C (p.Val1091=)
c.3174G>C (p.Val1058=)
c.3111G>C (p.Val1037=)
c.2976G>C (p.Val992=)
c.3054G>C (p.Val1018=)
c.2853G>C (p.Val951=)
c.2952G>C (p.Val984=)
c.3282G>C (p.Val1094=)
c.3087G>C (p.Val1029=)
c.3060G>C (p.Val1020=)
c.3039G>C (p.Val1013=)
c.3012G>C (p.Val1004=)
c.3210G>C (p.Val1070=)
c.801G>C (p.Val267=)
c.2655G>C (p.Val885=)
c.765G>C (p.Val255=)
c.3183G>C (p.Val1061=)
c.3036G>C (p.Val1012=)
c.2745G>C (p.Val915=)
c.2895G>C (p.Val965=)
n.85G>C
c.274G>C
c.3150G>C (p.Val1050=)
c.3270G>C (p.Val1090=)
c.3234G>C (p.Val1078=)
c.3324G>C (p.Val1108=)
c.3288G>C (p.Val1096=)
c.3264G>C (p.Val1088=)
c.3309G>C (p.Val1103=)
c.3249G>C (p.Val1083=)
c.3216G>C (p.Val1072=)
c.3279G>C (p.Val1093=)
c.3135G>C (p.Val1045=)
c.3315G>C (p.Val1105=)
c.3207G>C (p.Val1069=)
c.3171G>C (p.Val1057=)
c.3186G>C (p.Val1062=)
c.3096G>C (p.Val1032=)
c.3024G>C (p.Val1008=)
c.3108G>C (p.Val1036=)
c.2937G>C (p.Val979=)
c.3354G>C (p.Val1118=)
c.3240G>C (p.Val1080=)
c.3222G>C (p.Val1074=)
c.3294G>C (p.Val1098=)
c.2754G>C (p.Val918=)
c.3081G>C (p.Val1027=)
c.3102G>C (p.Val1034=)
 dbSNP
4g.113333066G>TCA440842783ANK2c.3378G>T (p.Val1126=)
c.3318G>T (p.Val1106=)
n.1420G>T
n.874G>T
n.82G>T
n.6500G>T
n.4874G>T
n.853G>T
n.2250G>T
n.1617G>T
n.963G>T
n.1381G>T
n.1832G>T
c.3237G>T (p.Val1079=)
c.3075G>T (p.Val1025=)
c.624G>T (p.Val208=)
c.3051G>T (p.Val1017=)
c.3138G>T (p.Val1046=)
c.3273G>T (p.Val1091=)
c.3174G>T (p.Val1058=)
c.3111G>T (p.Val1037=)
c.2976G>T (p.Val992=)
c.3054G>T (p.Val1018=)
c.2853G>T (p.Val951=)
c.2952G>T (p.Val984=)
c.3282G>T (p.Val1094=)
c.3087G>T (p.Val1029=)
c.3060G>T (p.Val1020=)
c.3039G>T (p.Val1013=)
c.3012G>T (p.Val1004=)
c.3210G>T (p.Val1070=)
c.801G>T (p.Val267=)
c.2655G>T (p.Val885=)
c.765G>T (p.Val255=)
c.3183G>T (p.Val1061=)
c.3036G>T (p.Val1012=)
c.2745G>T (p.Val915=)
c.2895G>T (p.Val965=)
n.85G>T
c.274G>T
c.3150G>T (p.Val1050=)
c.3270G>T (p.Val1090=)
c.3234G>T (p.Val1078=)
c.3324G>T (p.Val1108=)
c.3288G>T (p.Val1096=)
c.3264G>T (p.Val1088=)
c.3309G>T (p.Val1103=)
c.3249G>T (p.Val1083=)
c.3216G>T (p.Val1072=)
c.3279G>T (p.Val1093=)
c.3135G>T (p.Val1045=)
c.3315G>T (p.Val1105=)
c.3207G>T (p.Val1069=)
c.3171G>T (p.Val1057=)
c.3186G>T (p.Val1062=)
c.3096G>T (p.Val1032=)
c.3024G>T (p.Val1008=)
c.3108G>T (p.Val1036=)
c.2937G>T (p.Val979=)
c.3354G>T (p.Val1118=)
c.3240G>T (p.Val1080=)
c.3222G>T (p.Val1074=)
c.3294G>T (p.Val1098=)
c.2754G>T (p.Val918=)
c.3081G>T (p.Val1027=)
c.3102G>T (p.Val1034=)
4g.113333067delCA2706871073ANK2c.3379del (p.Glu1127ArgfsTer?)
c.3319del (p.Glu1107ArgfsTer?)
n.1421del
n.875del
n.83del
n.6501del
n.4875del
n.854del
n.2251del
n.1618del
n.964del
n.1382del
n.1833del
c.3238del (p.Glu1080ArgfsTer?)
c.3076del (p.Glu1026ArgfsTer?)
c.625del (p.Glu209ArgfsTer?)
c.3052del (p.Glu1018ArgfsTer?)
c.3139del (p.Glu1047ArgfsTer?)
c.3274del (p.Glu1092ArgfsTer?)
c.3175del (p.Glu1059ArgfsTer?)
c.3112del (p.Glu1038ArgfsTer?)
c.2977del (p.Glu993ArgfsTer?)
c.3055del (p.Glu1019ArgfsTer?)
c.2854del (p.Glu952ArgfsTer?)
c.2953del (p.Glu985ArgfsTer?)
c.3283del (p.Glu1095ArgfsTer?)
c.3088del (p.Glu1030ArgfsTer?)
c.3061del (p.Glu1021ArgfsTer?)
c.3040del (p.Glu1014ArgfsTer?)
c.3013del (p.Glu1005ArgfsTer?)
c.3211del (p.Glu1071ArgfsTer?)
c.802del (p.Glu268ArgfsTer?)
c.2656del (p.Glu886ArgfsTer?)
c.766del (p.Glu256ArgfsTer?)
c.3184del (p.Glu1062ArgfsTer?)
c.3037del (p.Glu1013ArgfsTer?)
c.2746del (p.Glu916ArgfsTer?)
c.2896del (p.Glu966ArgfsTer?)
n.86del
c.275del
c.3151del (p.Glu1051ArgfsTer?)
c.3271del (p.Glu1091ArgfsTer?)
c.3235del (p.Glu1079ArgfsTer?)
c.3325del (p.Glu1109ArgfsTer?)
c.3289del (p.Glu1097ArgfsTer?)
c.3265del (p.Glu1089ArgfsTer?)
c.3310del (p.Glu1104ArgfsTer?)
c.3250del (p.Glu1084ArgfsTer?)
c.3217del (p.Glu1073ArgfsTer?)
c.3280del (p.Glu1094ArgfsTer?)
c.3136del (p.Glu1046ArgfsTer?)
c.3316del (p.Glu1106ArgfsTer?)
c.3208del (p.Glu1070ArgfsTer?)
c.3172del (p.Glu1058ArgfsTer?)
c.3187del (p.Glu1063ArgfsTer?)
c.3097del (p.Glu1033ArgfsTer?)
c.3025del (p.Glu1009ArgfsTer?)
c.3109del (p.Glu1037ArgfsTer?)
c.2938del (p.Glu980ArgfsTer?)
c.3355del (p.Glu1119ArgfsTer?)
c.3241del (p.Glu1081ArgfsTer?)
c.3223del (p.Glu1075ArgfsTer?)
c.3295del (p.Glu1099ArgfsTer?)
c.2755del (p.Glu919ArgfsTer?)
c.3082del (p.Glu1028ArgfsTer?)
c.3103del (p.Glu1035ArgfsTer?)
 dbSNP
4g.113333067G>ACA357935863ANK2c.3379G>A (p.Glu1127Lys)
c.3319G>A (p.Glu1107Lys)
n.1421G>A
n.875G>A
n.83G>A
n.6501G>A
n.4875G>A
n.854G>A
n.2251G>A
n.1618G>A
n.964G>A
n.1382G>A
n.1833G>A
c.3238G>A (p.Glu1080Lys)
c.3076G>A (p.Glu1026Lys)
c.625G>A (p.Glu209Lys)
c.3052G>A (p.Glu1018Lys)
c.3139G>A (p.Glu1047Lys)
c.3274G>A (p.Glu1092Lys)
c.3175G>A (p.Glu1059Lys)
c.3112G>A (p.Glu1038Lys)
c.2977G>A (p.Glu993Lys)
c.3055G>A (p.Glu1019Lys)
c.2854G>A (p.Glu952Lys)
c.2953G>A (p.Glu985Lys)
c.3283G>A (p.Glu1095Lys)
c.3088G>A (p.Glu1030Lys)
c.3061G>A (p.Glu1021Lys)
c.3040G>A (p.Glu1014Lys)
c.3013G>A (p.Glu1005Lys)
c.3211G>A (p.Glu1071Lys)
c.802G>A (p.Glu268Lys)
c.2656G>A (p.Glu886Lys)
c.766G>A (p.Glu256Lys)
c.3184G>A (p.Glu1062Lys)
c.3037G>A (p.Glu1013Lys)
c.2746G>A (p.Glu916Lys)
c.2896G>A (p.Glu966Lys)
n.86G>A
c.275G>A
c.3151G>A (p.Glu1051Lys)
c.3271G>A (p.Glu1091Lys)
c.3235G>A (p.Glu1079Lys)
c.3325G>A (p.Glu1109Lys)
c.3289G>A (p.Glu1097Lys)
c.3265G>A (p.Glu1089Lys)
c.3310G>A (p.Glu1104Lys)
c.3250G>A (p.Glu1084Lys)
c.3217G>A (p.Glu1073Lys)
c.3280G>A (p.Glu1094Lys)
c.3136G>A (p.Glu1046Lys)
c.3316G>A (p.Glu1106Lys)
c.3208G>A (p.Glu1070Lys)
c.3172G>A (p.Glu1058Lys)
c.3187G>A (p.Glu1063Lys)
c.3097G>A (p.Glu1033Lys)
c.3025G>A (p.Glu1009Lys)
c.3109G>A (p.Glu1037Lys)
c.2938G>A (p.Glu980Lys)
c.3355G>A (p.Glu1119Lys)
c.3241G>A (p.Glu1081Lys)
c.3223G>A (p.Glu1075Lys)
c.3295G>A (p.Glu1099Lys)
c.2755G>A (p.Glu919Lys)
c.3082G>A (p.Glu1028Lys)
c.3103G>A (p.Glu1035Lys)
 ClinVar dbSNP
4g.113333067G>CCA357935865ANK2c.3379G>C (p.Glu1127Gln)
c.3319G>C (p.Glu1107Gln)
n.1421G>C
n.875G>C
n.83G>C
n.6501G>C
n.4875G>C
n.854G>C
n.2251G>C
n.1618G>C
n.964G>C
n.1382G>C
n.1833G>C
c.3238G>C (p.Glu1080Gln)
c.3076G>C (p.Glu1026Gln)
c.625G>C (p.Glu209Gln)
c.3052G>C (p.Glu1018Gln)
c.3139G>C (p.Glu1047Gln)
c.3274G>C (p.Glu1092Gln)
c.3175G>C (p.Glu1059Gln)
c.3112G>C (p.Glu1038Gln)
c.2977G>C (p.Glu993Gln)
c.3055G>C (p.Glu1019Gln)
c.2854G>C (p.Glu952Gln)
c.2953G>C (p.Glu985Gln)
c.3283G>C (p.Glu1095Gln)
c.3088G>C (p.Glu1030Gln)
c.3061G>C (p.Glu1021Gln)
c.3040G>C (p.Glu1014Gln)
c.3013G>C (p.Glu1005Gln)
c.3211G>C (p.Glu1071Gln)
c.802G>C (p.Glu268Gln)
c.2656G>C (p.Glu886Gln)
c.766G>C (p.Glu256Gln)
c.3184G>C (p.Glu1062Gln)
c.3037G>C (p.Glu1013Gln)
c.2746G>C (p.Glu916Gln)
c.2896G>C (p.Glu966Gln)
n.86G>C
c.275G>C
c.3151G>C (p.Glu1051Gln)
c.3271G>C (p.Glu1091Gln)
c.3235G>C (p.Glu1079Gln)
c.3325G>C (p.Glu1109Gln)
c.3289G>C (p.Glu1097Gln)
c.3265G>C (p.Glu1089Gln)
c.3310G>C (p.Glu1104Gln)
c.3250G>C (p.Glu1084Gln)
c.3217G>C (p.Glu1073Gln)
c.3280G>C (p.Glu1094Gln)
c.3136G>C (p.Glu1046Gln)
c.3316G>C (p.Glu1106Gln)
c.3208G>C (p.Glu1070Gln)
c.3172G>C (p.Glu1058Gln)
c.3187G>C (p.Glu1063Gln)
c.3097G>C (p.Glu1033Gln)
c.3025G>C (p.Glu1009Gln)
c.3109G>C (p.Glu1037Gln)
c.2938G>C (p.Glu980Gln)
c.3355G>C (p.Glu1119Gln)
c.3241G>C (p.Glu1081Gln)
c.3223G>C (p.Glu1075Gln)
c.3295G>C (p.Glu1099Gln)
c.2755G>C (p.Glu919Gln)
c.3082G>C (p.Glu1028Gln)
c.3103G>C (p.Glu1035Gln)
 dbSNP
4g.113333067G>TCA357935867ANK2c.3379G>T (p.Glu1127Ter)
c.3319G>T (p.Glu1107Ter)
n.1421G>T
n.875G>T
n.83G>T
n.6501G>T
n.4875G>T
n.854G>T
n.2251G>T
n.1618G>T
n.964G>T
n.1382G>T
n.1833G>T
c.3238G>T (p.Glu1080Ter)
c.3076G>T (p.Glu1026Ter)
c.625G>T (p.Glu209Ter)
c.3052G>T (p.Glu1018Ter)
c.3139G>T (p.Glu1047Ter)
c.3274G>T (p.Glu1092Ter)
c.3175G>T (p.Glu1059Ter)
c.3112G>T (p.Glu1038Ter)
c.2977G>T (p.Glu993Ter)
c.3055G>T (p.Glu1019Ter)
c.2854G>T (p.Glu952Ter)
c.2953G>T (p.Glu985Ter)
c.3283G>T (p.Glu1095Ter)
c.3088G>T (p.Glu1030Ter)
c.3061G>T (p.Glu1021Ter)
c.3040G>T (p.Glu1014Ter)
c.3013G>T (p.Glu1005Ter)
c.3211G>T (p.Glu1071Ter)
c.802G>T (p.Glu268Ter)
c.2656G>T (p.Glu886Ter)
c.766G>T (p.Glu256Ter)
c.3184G>T (p.Glu1062Ter)
c.3037G>T (p.Glu1013Ter)
c.2746G>T (p.Glu916Ter)
c.2896G>T (p.Glu966Ter)
n.86G>T
c.275G>T
c.3151G>T (p.Glu1051Ter)
c.3271G>T (p.Glu1091Ter)
c.3235G>T (p.Glu1079Ter)
c.3325G>T (p.Glu1109Ter)
c.3289G>T (p.Glu1097Ter)
c.3265G>T (p.Glu1089Ter)
c.3310G>T (p.Glu1104Ter)
c.3250G>T (p.Glu1084Ter)
c.3217G>T (p.Glu1073Ter)
c.3280G>T (p.Glu1094Ter)
c.3136G>T (p.Glu1046Ter)
c.3316G>T (p.Glu1106Ter)
c.3208G>T (p.Glu1070Ter)
c.3172G>T (p.Glu1058Ter)
c.3187G>T (p.Glu1063Ter)
c.3097G>T (p.Glu1033Ter)
c.3025G>T (p.Glu1009Ter)
c.3109G>T (p.Glu1037Ter)
c.2938G>T (p.Glu980Ter)
c.3355G>T (p.Glu1119Ter)
c.3241G>T (p.Glu1081Ter)
c.3223G>T (p.Glu1075Ter)
c.3295G>T (p.Glu1099Ter)
c.2755G>T (p.Glu919Ter)
c.3082G>T (p.Glu1028Ter)
c.3103G>T (p.Glu1035Ter)
 dbSNP
4g.113333068A>CCA357935868ANK2c.3380A>C (p.Glu1127Ala)
c.3320A>C (p.Glu1107Ala)
n.1422A>C
n.876A>C
n.84A>C
n.6502A>C
n.4876A>C
n.855A>C
n.2252A>C
n.1619A>C
n.965A>C
n.1383A>C
n.1834A>C
c.3239A>C (p.Glu1080Ala)
c.3077A>C (p.Glu1026Ala)
c.626A>C (p.Glu209Ala)
c.3053A>C (p.Glu1018Ala)
c.3140A>C (p.Glu1047Ala)
c.3275A>C (p.Glu1092Ala)
c.3176A>C (p.Glu1059Ala)
c.3113A>C (p.Glu1038Ala)
c.2978A>C (p.Glu993Ala)
c.3056A>C (p.Glu1019Ala)
c.2855A>C (p.Glu952Ala)
c.2954A>C (p.Glu985Ala)
c.3284A>C (p.Glu1095Ala)
c.3089A>C (p.Glu1030Ala)
c.3062A>C (p.Glu1021Ala)
c.3041A>C (p.Glu1014Ala)
c.3014A>C (p.Glu1005Ala)
c.3212A>C (p.Glu1071Ala)
c.803A>C (p.Glu268Ala)
c.2657A>C (p.Glu886Ala)
c.767A>C (p.Glu256Ala)
c.3185A>C (p.Glu1062Ala)
c.3038A>C (p.Glu1013Ala)
c.2747A>C (p.Glu916Ala)
c.2897A>C (p.Glu966Ala)
n.87A>C
c.276A>C
c.3152A>C (p.Glu1051Ala)
c.3272A>C (p.Glu1091Ala)
c.3236A>C (p.Glu1079Ala)
c.3326A>C (p.Glu1109Ala)
c.3290A>C (p.Glu1097Ala)
c.3266A>C (p.Glu1089Ala)
c.3311A>C (p.Glu1104Ala)
c.3251A>C (p.Glu1084Ala)
c.3218A>C (p.Glu1073Ala)
c.3281A>C (p.Glu1094Ala)
c.3137A>C (p.Glu1046Ala)
c.3317A>C (p.Glu1106Ala)
c.3209A>C (p.Glu1070Ala)
c.3173A>C (p.Glu1058Ala)
c.3188A>C (p.Glu1063Ala)
c.3098A>C (p.Glu1033Ala)
c.3026A>C (p.Glu1009Ala)
c.3110A>C (p.Glu1037Ala)
c.2939A>C (p.Glu980Ala)
c.3356A>C (p.Glu1119Ala)
c.3242A>C (p.Glu1081Ala)
c.3224A>C (p.Glu1075Ala)
c.3296A>C (p.Glu1099Ala)
c.2756A>C (p.Glu919Ala)
c.3083A>C (p.Glu1028Ala)
c.3104A>C (p.Glu1035Ala)
4g.113333068A>GCA357935870ANK2c.3380A>G (p.Glu1127Gly)
c.3320A>G (p.Glu1107Gly)
n.1422A>G
n.876A>G
n.84A>G
n.6502A>G
n.4876A>G
n.855A>G
n.2252A>G
n.1619A>G
n.965A>G
n.1383A>G
n.1834A>G
c.3239A>G (p.Glu1080Gly)
c.3077A>G (p.Glu1026Gly)
c.626A>G (p.Glu209Gly)
c.3053A>G (p.Glu1018Gly)
c.3140A>G (p.Glu1047Gly)
c.3275A>G (p.Glu1092Gly)
c.3176A>G (p.Glu1059Gly)
c.3113A>G (p.Glu1038Gly)
c.2978A>G (p.Glu993Gly)
c.3056A>G (p.Glu1019Gly)
c.2855A>G (p.Glu952Gly)
c.2954A>G (p.Glu985Gly)
c.3284A>G (p.Glu1095Gly)
c.3089A>G (p.Glu1030Gly)
c.3062A>G (p.Glu1021Gly)
c.3041A>G (p.Glu1014Gly)
c.3014A>G (p.Glu1005Gly)
c.3212A>G (p.Glu1071Gly)
c.803A>G (p.Glu268Gly)
c.2657A>G (p.Glu886Gly)
c.767A>G (p.Glu256Gly)
c.3185A>G (p.Glu1062Gly)
c.3038A>G (p.Glu1013Gly)
c.2747A>G (p.Glu916Gly)
c.2897A>G (p.Glu966Gly)
n.87A>G
c.276A>G
c.3152A>G (p.Glu1051Gly)
c.3272A>G (p.Glu1091Gly)
c.3236A>G (p.Glu1079Gly)
c.3326A>G (p.Glu1109Gly)
c.3290A>G (p.Glu1097Gly)
c.3266A>G (p.Glu1089Gly)
c.3311A>G (p.Glu1104Gly)
c.3251A>G (p.Glu1084Gly)
c.3218A>G (p.Glu1073Gly)
c.3281A>G (p.Glu1094Gly)
c.3137A>G (p.Glu1046Gly)
c.3317A>G (p.Glu1106Gly)
c.3209A>G (p.Glu1070Gly)
c.3173A>G (p.Glu1058Gly)
c.3188A>G (p.Glu1063Gly)
c.3098A>G (p.Glu1033Gly)
c.3026A>G (p.Glu1009Gly)
c.3110A>G (p.Glu1037Gly)
c.2939A>G (p.Glu980Gly)
c.3356A>G (p.Glu1119Gly)
c.3242A>G (p.Glu1081Gly)
c.3224A>G (p.Glu1075Gly)
c.3296A>G (p.Glu1099Gly)
c.2756A>G (p.Glu919Gly)
c.3083A>G (p.Glu1028Gly)
c.3104A>G (p.Glu1035Gly)
 dbSNP
4g.113333068A>TCA357935872ANK2c.3380A>T (p.Glu1127Val)
c.3320A>T (p.Glu1107Val)
n.1422A>T
n.876A>T
n.84A>T
n.6502A>T
n.4876A>T
n.855A>T
n.2252A>T
n.1619A>T
n.965A>T
n.1383A>T
n.1834A>T
c.3239A>T (p.Glu1080Val)
c.3077A>T (p.Glu1026Val)
c.626A>T (p.Glu209Val)
c.3053A>T (p.Glu1018Val)
c.3140A>T (p.Glu1047Val)
c.3275A>T (p.Glu1092Val)
c.3176A>T (p.Glu1059Val)
c.3113A>T (p.Glu1038Val)
c.2978A>T (p.Glu993Val)
c.3056A>T (p.Glu1019Val)
c.2855A>T (p.Glu952Val)
c.2954A>T (p.Glu985Val)
c.3284A>T (p.Glu1095Val)
c.3089A>T (p.Glu1030Val)
c.3062A>T (p.Glu1021Val)
c.3041A>T (p.Glu1014Val)
c.3014A>T (p.Glu1005Val)
c.3212A>T (p.Glu1071Val)
c.803A>T (p.Glu268Val)
c.2657A>T (p.Glu886Val)
c.767A>T (p.Glu256Val)
c.3185A>T (p.Glu1062Val)
c.3038A>T (p.Glu1013Val)
c.2747A>T (p.Glu916Val)
c.2897A>T (p.Glu966Val)
n.87A>T
c.276A>T
c.3152A>T (p.Glu1051Val)
c.3272A>T (p.Glu1091Val)
c.3236A>T (p.Glu1079Val)
c.3326A>T (p.Glu1109Val)
c.3290A>T (p.Glu1097Val)
c.3266A>T (p.Glu1089Val)
c.3311A>T (p.Glu1104Val)
c.3251A>T (p.Glu1084Val)
c.3218A>T (p.Glu1073Val)
c.3281A>T (p.Glu1094Val)
c.3137A>T (p.Glu1046Val)
c.3317A>T (p.Glu1106Val)
c.3209A>T (p.Glu1070Val)
c.3173A>T (p.Glu1058Val)
c.3188A>T (p.Glu1063Val)
c.3098A>T (p.Glu1033Val)
c.3026A>T (p.Glu1009Val)
c.3110A>T (p.Glu1037Val)
c.2939A>T (p.Glu980Val)
c.3356A>T (p.Glu1119Val)
c.3242A>T (p.Glu1081Val)
c.3224A>T (p.Glu1075Val)
c.3296A>T (p.Glu1099Val)
c.2756A>T (p.Glu919Val)
c.3083A>T (p.Glu1028Val)
c.3104A>T (p.Glu1035Val)
 dbSNP
4g.113333069G>ACA440842787ANK2c.3381G>A (p.Glu1127=)
c.3321G>A (p.Glu1107=)
n.1423G>A
n.877G>A
n.85G>A
n.6503G>A
n.4877G>A
n.856G>A
n.2253G>A
n.1620G>A
n.966G>A
n.1384G>A
n.1835G>A
c.3240G>A (p.Glu1080=)
c.3078G>A (p.Glu1026=)
c.627G>A (p.Glu209=)
c.3054G>A (p.Glu1018=)
c.3141G>A (p.Glu1047=)
c.3276G>A (p.Glu1092=)
c.3177G>A (p.Glu1059=)
c.3114G>A (p.Glu1038=)
c.2979G>A (p.Glu993=)
c.3057G>A (p.Glu1019=)
c.2856G>A (p.Glu952=)
c.2955G>A (p.Glu985=)
c.3285G>A (p.Glu1095=)
c.3090G>A (p.Glu1030=)
c.3063G>A (p.Glu1021=)
c.3042G>A (p.Glu1014=)
c.3015G>A (p.Glu1005=)
c.3213G>A (p.Glu1071=)
c.804G>A (p.Glu268=)
c.2658G>A (p.Glu886=)
c.768G>A (p.Glu256=)
c.3186G>A (p.Glu1062=)
c.3039G>A (p.Glu1013=)
c.2748G>A (p.Glu916=)
c.2898G>A (p.Glu966=)
n.88G>A
c.277G>A
c.3153G>A (p.Glu1051=)
c.3273G>A (p.Glu1091=)
c.3237G>A (p.Glu1079=)
c.3327G>A (p.Glu1109=)
c.3291G>A (p.Glu1097=)
c.3267G>A (p.Glu1089=)
c.3312G>A (p.Glu1104=)
c.3252G>A (p.Glu1084=)
c.3219G>A (p.Glu1073=)
c.3282G>A (p.Glu1094=)
c.3138G>A (p.Glu1046=)
c.3318G>A (p.Glu1106=)
c.3210G>A (p.Glu1070=)
c.3174G>A (p.Glu1058=)
c.3189G>A (p.Glu1063=)
c.3099G>A (p.Glu1033=)
c.3027G>A (p.Glu1009=)
c.3111G>A (p.Glu1037=)
c.2940G>A (p.Glu980=)
c.3357G>A (p.Glu1119=)
c.3243G>A (p.Glu1081=)
c.3225G>A (p.Glu1075=)
c.3297G>A (p.Glu1099=)
c.2757G>A (p.Glu919=)
c.3084G>A (p.Glu1028=)
c.3105G>A (p.Glu1035=)
 dbSNP gnomAD v2 gnomAD v4
4g.113333069G>CCA357935873ANK2c.3381G>C (p.Glu1127Asp)
c.3321G>C (p.Glu1107Asp)
n.1423G>C
n.877G>C
n.85G>C
n.6503G>C
n.4877G>C
n.856G>C
n.2253G>C
n.1620G>C
n.966G>C
n.1384G>C
n.1835G>C
c.3240G>C (p.Glu1080Asp)
c.3078G>C (p.Glu1026Asp)
c.627G>C (p.Glu209Asp)
c.3054G>C (p.Glu1018Asp)
c.3141G>C (p.Glu1047Asp)
c.3276G>C (p.Glu1092Asp)
c.3177G>C (p.Glu1059Asp)
c.3114G>C (p.Glu1038Asp)
c.2979G>C (p.Glu993Asp)
c.3057G>C (p.Glu1019Asp)
c.2856G>C (p.Glu952Asp)
c.2955G>C (p.Glu985Asp)
c.3285G>C (p.Glu1095Asp)
c.3090G>C (p.Glu1030Asp)
c.3063G>C (p.Glu1021Asp)
c.3042G>C (p.Glu1014Asp)
c.3015G>C (p.Glu1005Asp)
c.3213G>C (p.Glu1071Asp)
c.804G>C (p.Glu268Asp)
c.2658G>C (p.Glu886Asp)
c.768G>C (p.Glu256Asp)
c.3186G>C (p.Glu1062Asp)
c.3039G>C (p.Glu1013Asp)
c.2748G>C (p.Glu916Asp)
c.2898G>C (p.Glu966Asp)
n.88G>C
c.277G>C
c.3153G>C (p.Glu1051Asp)
c.3273G>C (p.Glu1091Asp)
c.3237G>C (p.Glu1079Asp)
c.3327G>C (p.Glu1109Asp)
c.3291G>C (p.Glu1097Asp)
c.3267G>C (p.Glu1089Asp)
c.3312G>C (p.Glu1104Asp)
c.3252G>C (p.Glu1084Asp)
c.3219G>C (p.Glu1073Asp)
c.3282G>C (p.Glu1094Asp)
c.3138G>C (p.Glu1046Asp)
c.3318G>C (p.Glu1106Asp)
c.3210G>C (p.Glu1070Asp)
c.3174G>C (p.Glu1058Asp)
c.3189G>C (p.Glu1063Asp)
c.3099G>C (p.Glu1033Asp)
c.3027G>C (p.Glu1009Asp)
c.3111G>C (p.Glu1037Asp)
c.2940G>C (p.Glu980Asp)
c.3357G>C (p.Glu1119Asp)
c.3243G>C (p.Glu1081Asp)
c.3225G>C (p.Glu1075Asp)
c.3297G>C (p.Glu1099Asp)
c.2757G>C (p.Glu919Asp)
c.3084G>C (p.Glu1028Asp)
c.3105G>C (p.Glu1035Asp)
 dbSNP
4g.113333069G>TCA357935875ANK2c.3381G>T (p.Glu1127Asp)
c.3321G>T (p.Glu1107Asp)
n.1423G>T
n.877G>T
n.85G>T
n.6503G>T
n.4877G>T
n.856G>T
n.2253G>T
n.1620G>T
n.966G>T
n.1384G>T
n.1835G>T
c.3240G>T (p.Glu1080Asp)
c.3078G>T (p.Glu1026Asp)
c.627G>T (p.Glu209Asp)
c.3054G>T (p.Glu1018Asp)
c.3141G>T (p.Glu1047Asp)
c.3276G>T (p.Glu1092Asp)
c.3177G>T (p.Glu1059Asp)
c.3114G>T (p.Glu1038Asp)
c.2979G>T (p.Glu993Asp)
c.3057G>T (p.Glu1019Asp)
c.2856G>T (p.Glu952Asp)
c.2955G>T (p.Glu985Asp)
c.3285G>T (p.Glu1095Asp)
c.3090G>T (p.Glu1030Asp)
c.3063G>T (p.Glu1021Asp)
c.3042G>T (p.Glu1014Asp)
c.3015G>T (p.Glu1005Asp)
c.3213G>T (p.Glu1071Asp)
c.804G>T (p.Glu268Asp)
c.2658G>T (p.Glu886Asp)
c.768G>T (p.Glu256Asp)
c.3186G>T (p.Glu1062Asp)
c.3039G>T (p.Glu1013Asp)
c.2748G>T (p.Glu916Asp)
c.2898G>T (p.Glu966Asp)
n.88G>T
c.277G>T
c.3153G>T (p.Glu1051Asp)
c.3273G>T (p.Glu1091Asp)
c.3237G>T (p.Glu1079Asp)
c.3327G>T (p.Glu1109Asp)
c.3291G>T (p.Glu1097Asp)
c.3267G>T (p.Glu1089Asp)
c.3312G>T (p.Glu1104Asp)
c.3252G>T (p.Glu1084Asp)
c.3219G>T (p.Glu1073Asp)
c.3282G>T (p.Glu1094Asp)
c.3138G>T (p.Glu1046Asp)
c.3318G>T (p.Glu1106Asp)
c.3210G>T (p.Glu1070Asp)
c.3174G>T (p.Glu1058Asp)
c.3189G>T (p.Glu1063Asp)
c.3099G>T (p.Glu1033Asp)
c.3027G>T (p.Glu1009Asp)
c.3111G>T (p.Glu1037Asp)
c.2940G>T (p.Glu980Asp)
c.3357G>T (p.Glu1119Asp)
c.3243G>T (p.Glu1081Asp)
c.3225G>T (p.Glu1075Asp)
c.3297G>T (p.Glu1099Asp)
c.2757G>T (p.Glu919Asp)
c.3084G>T (p.Glu1028Asp)
c.3105G>T (p.Glu1035Asp)
4g.113333070A>CCA357935877ANK2c.3382A>C (p.Ile1128Leu)
c.3322A>C (p.Ile1108Leu)
n.1424A>C
n.878A>C
n.86A>C
n.6504A>C
n.4878A>C
n.857A>C
n.2254A>C
n.1621A>C
n.967A>C
n.1385A>C
n.1836A>C
c.3241A>C (p.Ile1081Leu)
c.3079A>C (p.Ile1027Leu)
c.628A>C (p.Ile210Leu)
c.3055A>C (p.Ile1019Leu)
c.3142A>C (p.Ile1048Leu)
c.3277A>C (p.Ile1093Leu)
c.3178A>C (p.Ile1060Leu)
c.3115A>C (p.Ile1039Leu)
c.2980A>C (p.Ile994Leu)
c.3058A>C (p.Ile1020Leu)
c.2857A>C (p.Ile953Leu)
c.2956A>C (p.Ile986Leu)
c.3286A>C (p.Ile1096Leu)
c.3091A>C (p.Ile1031Leu)
c.3064A>C (p.Ile1022Leu)
c.3043A>C (p.Ile1015Leu)
c.3016A>C (p.Ile1006Leu)
c.3214A>C (p.Ile1072Leu)
c.805A>C (p.Ile269Leu)
c.2659A>C (p.Ile887Leu)
c.769A>C (p.Ile257Leu)
c.3187A>C (p.Ile1063Leu)
c.3040A>C (p.Ile1014Leu)
c.2749A>C (p.Ile917Leu)
c.2899A>C (p.Ile967Leu)
n.89A>C
c.278A>C
c.3154A>C (p.Ile1052Leu)
c.3274A>C (p.Ile1092Leu)
c.3238A>C (p.Ile1080Leu)
c.3328A>C (p.Ile1110Leu)
c.3292A>C (p.Ile1098Leu)
c.3268A>C (p.Ile1090Leu)
c.3313A>C (p.Ile1105Leu)
c.3253A>C (p.Ile1085Leu)
c.3220A>C (p.Ile1074Leu)
c.3283A>C (p.Ile1095Leu)
c.3139A>C (p.Ile1047Leu)
c.3319A>C (p.Ile1107Leu)
c.3211A>C (p.Ile1071Leu)
c.3175A>C (p.Ile1059Leu)
c.3190A>C (p.Ile1064Leu)
c.3100A>C (p.Ile1034Leu)
c.3028A>C (p.Ile1010Leu)
c.3112A>C (p.Ile1038Leu)
c.2941A>C (p.Ile981Leu)
c.3358A>C (p.Ile1120Leu)
c.3244A>C (p.Ile1082Leu)
c.3226A>C (p.Ile1076Leu)
c.3298A>C (p.Ile1100Leu)
c.2758A>C (p.Ile920Leu)
c.3085A>C (p.Ile1029Leu)
c.3106A>C (p.Ile1036Leu)
 dbSNP
4g.113333070A>GCA357935879ANK2c.3382A>G (p.Ile1128Val)
c.3322A>G (p.Ile1108Val)
n.1424A>G
n.878A>G
n.86A>G
n.6504A>G
n.4878A>G
n.857A>G
n.2254A>G
n.1621A>G
n.967A>G
n.1385A>G
n.1836A>G
c.3241A>G (p.Ile1081Val)
c.3079A>G (p.Ile1027Val)
c.628A>G (p.Ile210Val)
c.3055A>G (p.Ile1019Val)
c.3142A>G (p.Ile1048Val)
c.3277A>G (p.Ile1093Val)
c.3178A>G (p.Ile1060Val)
c.3115A>G (p.Ile1039Val)
c.2980A>G (p.Ile994Val)
c.3058A>G (p.Ile1020Val)
c.2857A>G (p.Ile953Val)
c.2956A>G (p.Ile986Val)
c.3286A>G (p.Ile1096Val)
c.3091A>G (p.Ile1031Val)
c.3064A>G (p.Ile1022Val)
c.3043A>G (p.Ile1015Val)
c.3016A>G (p.Ile1006Val)
c.3214A>G (p.Ile1072Val)
c.805A>G (p.Ile269Val)
c.2659A>G (p.Ile887Val)
c.769A>G (p.Ile257Val)
c.3187A>G (p.Ile1063Val)
c.3040A>G (p.Ile1014Val)
c.2749A>G (p.Ile917Val)
c.2899A>G (p.Ile967Val)
n.89A>G
c.278A>G
c.3154A>G (p.Ile1052Val)
c.3274A>G (p.Ile1092Val)
c.3238A>G (p.Ile1080Val)
c.3328A>G (p.Ile1110Val)
c.3292A>G (p.Ile1098Val)
c.3268A>G (p.Ile1090Val)
c.3313A>G (p.Ile1105Val)
c.3253A>G (p.Ile1085Val)
c.3220A>G (p.Ile1074Val)
c.3283A>G (p.Ile1095Val)
c.3139A>G (p.Ile1047Val)
c.3319A>G (p.Ile1107Val)
c.3211A>G (p.Ile1071Val)
c.3175A>G (p.Ile1059Val)
c.3190A>G (p.Ile1064Val)
c.3100A>G (p.Ile1034Val)
c.3028A>G (p.Ile1010Val)
c.3112A>G (p.Ile1038Val)
c.2941A>G (p.Ile981Val)
c.3358A>G (p.Ile1120Val)
c.3244A>G (p.Ile1082Val)
c.3226A>G (p.Ile1076Val)
c.3298A>G (p.Ile1100Val)
c.2758A>G (p.Ile920Val)
c.3085A>G (p.Ile1029Val)
c.3106A>G (p.Ile1036Val)
 dbSNP
4g.113333070A>TCA357935881ANK2c.3382A>T (p.Ile1128Phe)
c.3322A>T (p.Ile1108Phe)
n.1424A>T
n.878A>T
n.86A>T
n.6504A>T
n.4878A>T
n.857A>T
n.2254A>T
n.1621A>T
n.967A>T
n.1385A>T
n.1836A>T
c.3241A>T (p.Ile1081Phe)
c.3079A>T (p.Ile1027Phe)
c.628A>T (p.Ile210Phe)
c.3055A>T (p.Ile1019Phe)
c.3142A>T (p.Ile1048Phe)
c.3277A>T (p.Ile1093Phe)
c.3178A>T (p.Ile1060Phe)
c.3115A>T (p.Ile1039Phe)
c.2980A>T (p.Ile994Phe)
c.3058A>T (p.Ile1020Phe)
c.2857A>T (p.Ile953Phe)
c.2956A>T (p.Ile986Phe)
c.3286A>T (p.Ile1096Phe)
c.3091A>T (p.Ile1031Phe)
c.3064A>T (p.Ile1022Phe)
c.3043A>T (p.Ile1015Phe)
c.3016A>T (p.Ile1006Phe)
c.3214A>T (p.Ile1072Phe)
c.805A>T (p.Ile269Phe)
c.2659A>T (p.Ile887Phe)
c.769A>T (p.Ile257Phe)
c.3187A>T (p.Ile1063Phe)
c.3040A>T (p.Ile1014Phe)
c.2749A>T (p.Ile917Phe)
c.2899A>T (p.Ile967Phe)
n.89A>T
c.278A>T
c.3154A>T (p.Ile1052Phe)
c.3274A>T (p.Ile1092Phe)
c.3238A>T (p.Ile1080Phe)
c.3328A>T (p.Ile1110Phe)
c.3292A>T (p.Ile1098Phe)
c.3268A>T (p.Ile1090Phe)
c.3313A>T (p.Ile1105Phe)
c.3253A>T (p.Ile1085Phe)
c.3220A>T (p.Ile1074Phe)
c.3283A>T (p.Ile1095Phe)
c.3139A>T (p.Ile1047Phe)
c.3319A>T (p.Ile1107Phe)
c.3211A>T (p.Ile1071Phe)
c.3175A>T (p.Ile1059Phe)
c.3190A>T (p.Ile1064Phe)
c.3100A>T (p.Ile1034Phe)
c.3028A>T (p.Ile1010Phe)
c.3112A>T (p.Ile1038Phe)
c.2941A>T (p.Ile981Phe)
c.3358A>T (p.Ile1120Phe)
c.3244A>T (p.Ile1082Phe)
c.3226A>T (p.Ile1076Phe)
c.3298A>T (p.Ile1100Phe)
c.2758A>T (p.Ile920Phe)
c.3085A>T (p.Ile1029Phe)
c.3106A>T (p.Ile1036Phe)
 dbSNP
4g.113333071T>ACA357935883ANK2c.3383T>A (p.Ile1128Asn)
c.3323T>A (p.Ile1108Asn)
n.1425T>A
n.879T>A
n.87T>A
n.6505T>A
n.4879T>A
n.858T>A
n.2255T>A
n.1622T>A
n.968T>A
n.1386T>A
n.1837T>A
c.3242T>A (p.Ile1081Asn)
c.3080T>A (p.Ile1027Asn)
c.629T>A (p.Ile210Asn)
c.3056T>A (p.Ile1019Asn)
c.3143T>A (p.Ile1048Asn)
c.3278T>A (p.Ile1093Asn)
c.3179T>A (p.Ile1060Asn)
c.3116T>A (p.Ile1039Asn)
c.2981T>A (p.Ile994Asn)
c.3059T>A (p.Ile1020Asn)
c.2858T>A (p.Ile953Asn)
c.2957T>A (p.Ile986Asn)
c.3287T>A (p.Ile1096Asn)
c.3092T>A (p.Ile1031Asn)
c.3065T>A (p.Ile1022Asn)
c.3044T>A (p.Ile1015Asn)
c.3017T>A (p.Ile1006Asn)
c.3215T>A (p.Ile1072Asn)
c.806T>A (p.Ile269Asn)
c.2660T>A (p.Ile887Asn)
c.770T>A (p.Ile257Asn)
c.3188T>A (p.Ile1063Asn)
c.3041T>A (p.Ile1014Asn)
c.2750T>A (p.Ile917Asn)
c.2900T>A (p.Ile967Asn)
n.90T>A
c.279T>A
c.3155T>A (p.Ile1052Asn)
c.3275T>A (p.Ile1092Asn)
c.3239T>A (p.Ile1080Asn)
c.3329T>A (p.Ile1110Asn)
c.3293T>A (p.Ile1098Asn)
c.3269T>A (p.Ile1090Asn)
c.3314T>A (p.Ile1105Asn)
c.3254T>A (p.Ile1085Asn)
c.3221T>A (p.Ile1074Asn)
c.3284T>A (p.Ile1095Asn)
c.3140T>A (p.Ile1047Asn)
c.3320T>A (p.Ile1107Asn)
c.3212T>A (p.Ile1071Asn)
c.3176T>A (p.Ile1059Asn)
c.3191T>A (p.Ile1064Asn)
c.3101T>A (p.Ile1034Asn)
c.3029T>A (p.Ile1010Asn)
c.3113T>A (p.Ile1038Asn)
c.2942T>A (p.Ile981Asn)
c.3359T>A (p.Ile1120Asn)
c.3245T>A (p.Ile1082Asn)
c.3227T>A (p.Ile1076Asn)
c.3299T>A (p.Ile1100Asn)
c.2759T>A (p.Ile920Asn)
c.3086T>A (p.Ile1029Asn)
c.3107T>A (p.Ile1036Asn)
 dbSNP gnomAD v4
4g.113333071T>CCA357935884ANK2c.3383T>C (p.Ile1128Thr)
c.3323T>C (p.Ile1108Thr)
n.1425T>C
n.879T>C
n.87T>C
n.6505T>C
n.4879T>C
n.858T>C
n.2255T>C
n.1622T>C
n.968T>C
n.1386T>C
n.1837T>C
c.3242T>C (p.Ile1081Thr)
c.3080T>C (p.Ile1027Thr)
c.629T>C (p.Ile210Thr)
c.3056T>C (p.Ile1019Thr)
c.3143T>C (p.Ile1048Thr)
c.3278T>C (p.Ile1093Thr)
c.3179T>C (p.Ile1060Thr)
c.3116T>C (p.Ile1039Thr)
c.2981T>C (p.Ile994Thr)
c.3059T>C (p.Ile1020Thr)
c.2858T>C (p.Ile953Thr)
c.2957T>C (p.Ile986Thr)
c.3287T>C (p.Ile1096Thr)
c.3092T>C (p.Ile1031Thr)
c.3065T>C (p.Ile1022Thr)
c.3044T>C (p.Ile1015Thr)
c.3017T>C (p.Ile1006Thr)
c.3215T>C (p.Ile1072Thr)
c.806T>C (p.Ile269Thr)
c.2660T>C (p.Ile887Thr)
c.770T>C (p.Ile257Thr)
c.3188T>C (p.Ile1063Thr)
c.3041T>C (p.Ile1014Thr)
c.2750T>C (p.Ile917Thr)
c.2900T>C (p.Ile967Thr)
n.90T>C
c.279T>C
c.3155T>C (p.Ile1052Thr)
c.3275T>C (p.Ile1092Thr)
c.3239T>C (p.Ile1080Thr)
c.3329T>C (p.Ile1110Thr)
c.3293T>C (p.Ile1098Thr)
c.3269T>C (p.Ile1090Thr)
c.3314T>C (p.Ile1105Thr)
c.3254T>C (p.Ile1085Thr)
c.3221T>C (p.Ile1074Thr)
c.3284T>C (p.Ile1095Thr)
c.3140T>C (p.Ile1047Thr)
c.3320T>C (p.Ile1107Thr)
c.3212T>C (p.Ile1071Thr)
c.3176T>C (p.Ile1059Thr)
c.3191T>C (p.Ile1064Thr)
c.3101T>C (p.Ile1034Thr)
c.3029T>C (p.Ile1010Thr)
c.3113T>C (p.Ile1038Thr)
c.2942T>C (p.Ile981Thr)
c.3359T>C (p.Ile1120Thr)
c.3245T>C (p.Ile1082Thr)
c.3227T>C (p.Ile1076Thr)
c.3299T>C (p.Ile1100Thr)
c.2759T>C (p.Ile920Thr)
c.3086T>C (p.Ile1029Thr)
c.3107T>C (p.Ile1036Thr)
4g.113333071T>GCA357935886ANK2c.3383T>G (p.Ile1128Ser)
c.3323T>G (p.Ile1108Ser)
n.1425T>G
n.879T>G
n.87T>G
n.6505T>G
n.4879T>G
n.858T>G
n.2255T>G
n.1622T>G
n.968T>G
n.1386T>G
n.1837T>G
c.3242T>G (p.Ile1081Ser)
c.3080T>G (p.Ile1027Ser)
c.629T>G (p.Ile210Ser)
c.3056T>G (p.Ile1019Ser)
c.3143T>G (p.Ile1048Ser)
c.3278T>G (p.Ile1093Ser)
c.3179T>G (p.Ile1060Ser)
c.3116T>G (p.Ile1039Ser)
c.2981T>G (p.Ile994Ser)
c.3059T>G (p.Ile1020Ser)
c.2858T>G (p.Ile953Ser)
c.2957T>G (p.Ile986Ser)
c.3287T>G (p.Ile1096Ser)
c.3092T>G (p.Ile1031Ser)
c.3065T>G (p.Ile1022Ser)
c.3044T>G (p.Ile1015Ser)
c.3017T>G (p.Ile1006Ser)
c.3215T>G (p.Ile1072Ser)
c.806T>G (p.Ile269Ser)
c.2660T>G (p.Ile887Ser)
c.770T>G (p.Ile257Ser)
c.3188T>G (p.Ile1063Ser)
c.3041T>G (p.Ile1014Ser)
c.2750T>G (p.Ile917Ser)
c.2900T>G (p.Ile967Ser)
n.90T>G
c.279T>G
c.3155T>G (p.Ile1052Ser)
c.3275T>G (p.Ile1092Ser)
c.3239T>G (p.Ile1080Ser)
c.3329T>G (p.Ile1110Ser)
c.3293T>G (p.Ile1098Ser)
c.3269T>G (p.Ile1090Ser)
c.3314T>G (p.Ile1105Ser)
c.3254T>G (p.Ile1085Ser)
c.3221T>G (p.Ile1074Ser)
c.3284T>G (p.Ile1095Ser)
c.3140T>G (p.Ile1047Ser)
c.3320T>G (p.Ile1107Ser)
c.3212T>G (p.Ile1071Ser)
c.3176T>G (p.Ile1059Ser)
c.3191T>G (p.Ile1064Ser)
c.3101T>G (p.Ile1034Ser)
c.3029T>G (p.Ile1010Ser)
c.3113T>G (p.Ile1038Ser)
c.2942T>G (p.Ile981Ser)
c.3359T>G (p.Ile1120Ser)
c.3245T>G (p.Ile1082Ser)
c.3227T>G (p.Ile1076Ser)
c.3299T>G (p.Ile1100Ser)
c.2759T>G (p.Ile920Ser)
c.3086T>G (p.Ile1029Ser)
c.3107T>G (p.Ile1036Ser)
 dbSNP
4g.113333072C>ACA440842792ANK2c.3384C>A (p.Ile1128=)
c.3324C>A (p.Ile1108=)
n.1426C>A
n.880C>A
n.88C>A
n.6506C>A
n.4880C>A
n.859C>A
n.2256C>A
n.1623C>A
n.969C>A
n.1387C>A
n.1838C>A
c.3243C>A (p.Ile1081=)
c.3081C>A (p.Ile1027=)
c.630C>A (p.Ile210=)
c.3057C>A (p.Ile1019=)
c.3144C>A (p.Ile1048=)
c.3279C>A (p.Ile1093=)
c.3180C>A (p.Ile1060=)
c.3117C>A (p.Ile1039=)
c.2982C>A (p.Ile994=)
c.3060C>A (p.Ile1020=)
c.2859C>A (p.Ile953=)
c.2958C>A (p.Ile986=)
c.3288C>A (p.Ile1096=)
c.3093C>A (p.Ile1031=)
c.3066C>A (p.Ile1022=)
c.3045C>A (p.Ile1015=)
c.3018C>A (p.Ile1006=)
c.3216C>A (p.Ile1072=)
c.807C>A (p.Ile269=)
c.2661C>A (p.Ile887=)
c.771C>A (p.Ile257=)
c.3189C>A (p.Ile1063=)
c.3042C>A (p.Ile1014=)
c.2751C>A (p.Ile917=)
c.2901C>A (p.Ile967=)
n.91C>A
c.280C>A
c.3156C>A (p.Ile1052=)
c.3276C>A (p.Ile1092=)
c.3240C>A (p.Ile1080=)
c.3330C>A (p.Ile1110=)
c.3294C>A (p.Ile1098=)
c.3270C>A (p.Ile1090=)
c.3315C>A (p.Ile1105=)
c.3255C>A (p.Ile1085=)
c.3222C>A (p.Ile1074=)
c.3285C>A (p.Ile1095=)
c.3141C>A (p.Ile1047=)
c.3321C>A (p.Ile1107=)
c.3213C>A (p.Ile1071=)
c.3177C>A (p.Ile1059=)
c.3192C>A (p.Ile1064=)
c.3102C>A (p.Ile1034=)
c.3030C>A (p.Ile1010=)
c.3114C>A (p.Ile1038=)
c.2943C>A (p.Ile981=)
c.3360C>A (p.Ile1120=)
c.3246C>A (p.Ile1082=)
c.3228C>A (p.Ile1076=)
c.3300C>A (p.Ile1100=)
c.2760C>A (p.Ile920=)
c.3087C>A (p.Ile1029=)
c.3108C>A (p.Ile1036=)
 ClinVar dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched