Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.113333112G>ACA357936058ANK2c.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
4g.113333112G>CCA357936059ANK2c.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
4g.113333112G>TCA357936060ANK2c.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
4g.113333113T>ACA357936062ANK2c.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)
4g.113333113T>CCA357936064ANK2c.3425T>C (p.Val1142Ala)
c.3365T>C (p.Val1122Ala)
n.1467T>C
n.921T>C
n.129T>C
n.6547T>C
n.4921T>C
n.41T>C
n.900T>C
n.2297T>C
n.1664T>C
n.1010T>C
n.1428T>C
n.1879T>C
c.3284T>C (p.Val1095Ala)
c.3122T>C (p.Val1041Ala)
c.671T>C (p.Val224Ala)
c.3098T>C (p.Val1033Ala)
c.3185T>C (p.Val1062Ala)
c.3320T>C (p.Val1107Ala)
c.3221T>C (p.Val1074Ala)
c.3158T>C (p.Val1053Ala)
c.3023T>C (p.Val1008Ala)
c.3101T>C (p.Val1034Ala)
c.2900T>C (p.Val967Ala)
c.2999T>C (p.Val1000Ala)
c.3329T>C (p.Val1110Ala)
c.3134T>C (p.Val1045Ala)
c.3107T>C (p.Val1036Ala)
c.3086T>C (p.Val1029Ala)
c.3059T>C (p.Val1020Ala)
c.3257T>C (p.Val1086Ala)
c.848T>C (p.Val283Ala)
c.2702T>C (p.Val901Ala)
c.812T>C (p.Val271Ala)
c.3230T>C (p.Val1077Ala)
c.3083T>C (p.Val1028Ala)
c.2792T>C (p.Val931Ala)
c.2942T>C (p.Val981Ala)
n.132T>C
c.321T>C
c.3197T>C (p.Val1066Ala)
c.3317T>C (p.Val1106Ala)
c.3281T>C (p.Val1094Ala)
c.3371T>C (p.Val1124Ala)
c.3335T>C (p.Val1112Ala)
c.3311T>C (p.Val1104Ala)
c.3356T>C (p.Val1119Ala)
c.3296T>C (p.Val1099Ala)
c.3263T>C (p.Val1088Ala)
c.3326T>C (p.Val1109Ala)
c.3182T>C (p.Val1061Ala)
c.3362T>C (p.Val1121Ala)
c.3254T>C (p.Val1085Ala)
c.3218T>C (p.Val1073Ala)
c.3233T>C (p.Val1078Ala)
c.3143T>C (p.Val1048Ala)
c.3071T>C (p.Val1024Ala)
c.3155T>C (p.Val1052Ala)
c.2984T>C (p.Val995Ala)
c.3401T>C (p.Val1134Ala)
c.3287T>C (p.Val1096Ala)
c.3269T>C (p.Val1090Ala)
c.3341T>C (p.Val1114Ala)
c.2801T>C (p.Val934Ala)
c.3128T>C (p.Val1043Ala)
c.3149T>C (p.Val1050Ala)
gnomAD v4
4g.113333113T>GCA357936065ANK2c.3425T>G (p.Val1142Gly)
c.3365T>G (p.Val1122Gly)
n.1467T>G
n.921T>G
n.129T>G
n.6547T>G
n.4921T>G
n.41T>G
n.900T>G
n.2297T>G
n.1664T>G
n.1010T>G
n.1428T>G
n.1879T>G
c.3284T>G (p.Val1095Gly)
c.3122T>G (p.Val1041Gly)
c.671T>G (p.Val224Gly)
c.3098T>G (p.Val1033Gly)
c.3185T>G (p.Val1062Gly)
c.3320T>G (p.Val1107Gly)
c.3221T>G (p.Val1074Gly)
c.3158T>G (p.Val1053Gly)
c.3023T>G (p.Val1008Gly)
c.3101T>G (p.Val1034Gly)
c.2900T>G (p.Val967Gly)
c.2999T>G (p.Val1000Gly)
c.3329T>G (p.Val1110Gly)
c.3134T>G (p.Val1045Gly)
c.3107T>G (p.Val1036Gly)
c.3086T>G (p.Val1029Gly)
c.3059T>G (p.Val1020Gly)
c.3257T>G (p.Val1086Gly)
c.848T>G (p.Val283Gly)
c.2702T>G (p.Val901Gly)
c.812T>G (p.Val271Gly)
c.3230T>G (p.Val1077Gly)
c.3083T>G (p.Val1028Gly)
c.2792T>G (p.Val931Gly)
c.2942T>G (p.Val981Gly)
n.132T>G
c.321T>G
c.3197T>G (p.Val1066Gly)
c.3317T>G (p.Val1106Gly)
c.3281T>G (p.Val1094Gly)
c.3371T>G (p.Val1124Gly)
c.3335T>G (p.Val1112Gly)
c.3311T>G (p.Val1104Gly)
c.3356T>G (p.Val1119Gly)
c.3296T>G (p.Val1099Gly)
c.3263T>G (p.Val1088Gly)
c.3326T>G (p.Val1109Gly)
c.3182T>G (p.Val1061Gly)
c.3362T>G (p.Val1121Gly)
c.3254T>G (p.Val1085Gly)
c.3218T>G (p.Val1073Gly)
c.3233T>G (p.Val1078Gly)
c.3143T>G (p.Val1048Gly)
c.3071T>G (p.Val1024Gly)
c.3155T>G (p.Val1052Gly)
c.2984T>G (p.Val995Gly)
c.3401T>G (p.Val1134Gly)
c.3287T>G (p.Val1096Gly)
c.3269T>G (p.Val1090Gly)
c.3341T>G (p.Val1114Gly)
c.2801T>G (p.Val934Gly)
c.3128T>G (p.Val1043Gly)
c.3149T>G (p.Val1050Gly)
4g.113333114G>ACA440842847ANK2c.3426G>A (p.Val1142=)
c.3366G>A (p.Val1122=)
n.1468G>A
n.922G>A
n.130G>A
n.6548G>A
n.4922G>A
n.42G>A
n.901G>A
n.2298G>A
n.1665G>A
n.1011G>A
n.1429G>A
n.1880G>A
c.3285G>A (p.Val1095=)
c.3123G>A (p.Val1041=)
c.672G>A (p.Val224=)
c.3099G>A (p.Val1033=)
c.3186G>A (p.Val1062=)
c.3321G>A (p.Val1107=)
c.3222G>A (p.Val1074=)
c.3159G>A (p.Val1053=)
c.3024G>A (p.Val1008=)
c.3102G>A (p.Val1034=)
c.2901G>A (p.Val967=)
c.3000G>A (p.Val1000=)
c.3330G>A (p.Val1110=)
c.3135G>A (p.Val1045=)
c.3108G>A (p.Val1036=)
c.3087G>A (p.Val1029=)
c.3060G>A (p.Val1020=)
c.3258G>A (p.Val1086=)
c.849G>A (p.Val283=)
c.2703G>A (p.Val901=)
c.813G>A (p.Val271=)
c.3231G>A (p.Val1077=)
c.3084G>A (p.Val1028=)
c.2793G>A (p.Val931=)
c.2943G>A (p.Val981=)
n.133G>A
c.322G>A
c.3198G>A (p.Val1066=)
c.3318G>A (p.Val1106=)
c.3282G>A (p.Val1094=)
c.3372G>A (p.Val1124=)
c.3336G>A (p.Val1112=)
c.3312G>A (p.Val1104=)
c.3357G>A (p.Val1119=)
c.3297G>A (p.Val1099=)
c.3264G>A (p.Val1088=)
c.3327G>A (p.Val1109=)
c.3183G>A (p.Val1061=)
c.3363G>A (p.Val1121=)
c.3255G>A (p.Val1085=)
c.3219G>A (p.Val1073=)
c.3234G>A (p.Val1078=)
c.3144G>A (p.Val1048=)
c.3072G>A (p.Val1024=)
c.3156G>A (p.Val1052=)
c.2985G>A (p.Val995=)
c.3402G>A (p.Val1134=)
c.3288G>A (p.Val1096=)
c.3270G>A (p.Val1090=)
c.3342G>A (p.Val1114=)
c.2802G>A (p.Val934=)
c.3129G>A (p.Val1043=)
c.3150G>A (p.Val1050=)
dbSNP
4g.113333114G>CCA440842848ANK2c.3426G>C (p.Val1142=)
c.3366G>C (p.Val1122=)
n.1468G>C
n.922G>C
n.130G>C
n.6548G>C
n.4922G>C
n.42G>C
n.901G>C
n.2298G>C
n.1665G>C
n.1011G>C
n.1429G>C
n.1880G>C
c.3285G>C (p.Val1095=)
c.3123G>C (p.Val1041=)
c.672G>C (p.Val224=)
c.3099G>C (p.Val1033=)
c.3186G>C (p.Val1062=)
c.3321G>C (p.Val1107=)
c.3222G>C (p.Val1074=)
c.3159G>C (p.Val1053=)
c.3024G>C (p.Val1008=)
c.3102G>C (p.Val1034=)
c.2901G>C (p.Val967=)
c.3000G>C (p.Val1000=)
c.3330G>C (p.Val1110=)
c.3135G>C (p.Val1045=)
c.3108G>C (p.Val1036=)
c.3087G>C (p.Val1029=)
c.3060G>C (p.Val1020=)
c.3258G>C (p.Val1086=)
c.849G>C (p.Val283=)
c.2703G>C (p.Val901=)
c.813G>C (p.Val271=)
c.3231G>C (p.Val1077=)
c.3084G>C (p.Val1028=)
c.2793G>C (p.Val931=)
c.2943G>C (p.Val981=)
n.133G>C
c.322G>C
c.3198G>C (p.Val1066=)
c.3318G>C (p.Val1106=)
c.3282G>C (p.Val1094=)
c.3372G>C (p.Val1124=)
c.3336G>C (p.Val1112=)
c.3312G>C (p.Val1104=)
c.3357G>C (p.Val1119=)
c.3297G>C (p.Val1099=)
c.3264G>C (p.Val1088=)
c.3327G>C (p.Val1109=)
c.3183G>C (p.Val1061=)
c.3363G>C (p.Val1121=)
c.3255G>C (p.Val1085=)
c.3219G>C (p.Val1073=)
c.3234G>C (p.Val1078=)
c.3144G>C (p.Val1048=)
c.3072G>C (p.Val1024=)
c.3156G>C (p.Val1052=)
c.2985G>C (p.Val995=)
c.3402G>C (p.Val1134=)
c.3288G>C (p.Val1096=)
c.3270G>C (p.Val1090=)
c.3342G>C (p.Val1114=)
c.2802G>C (p.Val934=)
c.3129G>C (p.Val1043=)
c.3150G>C (p.Val1050=)
4g.113333114G>TCA440842849ANK2c.3426G>T (p.Val1142=)
c.3366G>T (p.Val1122=)
n.1468G>T
n.922G>T
n.130G>T
n.6548G>T
n.4922G>T
n.42G>T
n.901G>T
n.2298G>T
n.1665G>T
n.1011G>T
n.1429G>T
n.1880G>T
c.3285G>T (p.Val1095=)
c.3123G>T (p.Val1041=)
c.672G>T (p.Val224=)
c.3099G>T (p.Val1033=)
c.3186G>T (p.Val1062=)
c.3321G>T (p.Val1107=)
c.3222G>T (p.Val1074=)
c.3159G>T (p.Val1053=)
c.3024G>T (p.Val1008=)
c.3102G>T (p.Val1034=)
c.2901G>T (p.Val967=)
c.3000G>T (p.Val1000=)
c.3330G>T (p.Val1110=)
c.3135G>T (p.Val1045=)
c.3108G>T (p.Val1036=)
c.3087G>T (p.Val1029=)
c.3060G>T (p.Val1020=)
c.3258G>T (p.Val1086=)
c.849G>T (p.Val283=)
c.2703G>T (p.Val901=)
c.813G>T (p.Val271=)
c.3231G>T (p.Val1077=)
c.3084G>T (p.Val1028=)
c.2793G>T (p.Val931=)
c.2943G>T (p.Val981=)
n.133G>T
c.322G>T
c.3198G>T (p.Val1066=)
c.3318G>T (p.Val1106=)
c.3282G>T (p.Val1094=)
c.3372G>T (p.Val1124=)
c.3336G>T (p.Val1112=)
c.3312G>T (p.Val1104=)
c.3357G>T (p.Val1119=)
c.3297G>T (p.Val1099=)
c.3264G>T (p.Val1088=)
c.3327G>T (p.Val1109=)
c.3183G>T (p.Val1061=)
c.3363G>T (p.Val1121=)
c.3255G>T (p.Val1085=)
c.3219G>T (p.Val1073=)
c.3234G>T (p.Val1078=)
c.3144G>T (p.Val1048=)
c.3072G>T (p.Val1024=)
c.3156G>T (p.Val1052=)
c.2985G>T (p.Val995=)
c.3402G>T (p.Val1134=)
c.3288G>T (p.Val1096=)
c.3270G>T (p.Val1090=)
c.3342G>T (p.Val1114=)
c.2802G>T (p.Val934=)
c.3129G>T (p.Val1043=)
c.3150G>T (p.Val1050=)
4g.113333115G>ACA357936068ANK2c.3427G>A (p.Val1143Ile)
c.3367G>A (p.Val1123Ile)
n.1469G>A
n.923G>A
n.131G>A
n.6549G>A
n.4923G>A
n.43G>A
n.902G>A
n.2299G>A
n.1666G>A
n.1012G>A
n.1430G>A
n.1881G>A
c.3286G>A (p.Val1096Ile)
c.3124G>A (p.Val1042Ile)
c.673G>A (p.Val225Ile)
c.3100G>A (p.Val1034Ile)
c.3187G>A (p.Val1063Ile)
c.3322G>A (p.Val1108Ile)
c.3223G>A (p.Val1075Ile)
c.3160G>A (p.Val1054Ile)
c.3025G>A (p.Val1009Ile)
c.3103G>A (p.Val1035Ile)
c.2902G>A (p.Val968Ile)
c.3001G>A (p.Val1001Ile)
c.3331G>A (p.Val1111Ile)
c.3136G>A (p.Val1046Ile)
c.3109G>A (p.Val1037Ile)
c.3088G>A (p.Val1030Ile)
c.3061G>A (p.Val1021Ile)
c.3259G>A (p.Val1087Ile)
c.850G>A (p.Val284Ile)
c.2704G>A (p.Val902Ile)
c.814G>A (p.Val272Ile)
c.3232G>A (p.Val1078Ile)
c.3085G>A (p.Val1029Ile)
c.2794G>A (p.Val932Ile)
c.2944G>A (p.Val982Ile)
n.134G>A
c.323G>A
c.3199G>A (p.Val1067Ile)
c.3319G>A (p.Val1107Ile)
c.3283G>A (p.Val1095Ile)
c.3373G>A (p.Val1125Ile)
c.3337G>A (p.Val1113Ile)
c.3313G>A (p.Val1105Ile)
c.3358G>A (p.Val1120Ile)
c.3298G>A (p.Val1100Ile)
c.3265G>A (p.Val1089Ile)
c.3328G>A (p.Val1110Ile)
c.3184G>A (p.Val1062Ile)
c.3364G>A (p.Val1122Ile)
c.3256G>A (p.Val1086Ile)
c.3220G>A (p.Val1074Ile)
c.3235G>A (p.Val1079Ile)
c.3145G>A (p.Val1049Ile)
c.3073G>A (p.Val1025Ile)
c.3157G>A (p.Val1053Ile)
c.2986G>A (p.Val996Ile)
c.3403G>A (p.Val1135Ile)
c.3289G>A (p.Val1097Ile)
c.3271G>A (p.Val1091Ile)
c.3343G>A (p.Val1115Ile)
c.2803G>A (p.Val935Ile)
c.3130G>A (p.Val1044Ile)
c.3151G>A (p.Val1051Ile)
dbSNP
4g.113333115G>CCA357936069ANK2c.3427G>C (p.Val1143Leu)
c.3367G>C (p.Val1123Leu)
n.1469G>C
n.923G>C
n.131G>C
n.6549G>C
n.4923G>C
n.43G>C
n.902G>C
n.2299G>C
n.1666G>C
n.1012G>C
n.1430G>C
n.1881G>C
c.3286G>C (p.Val1096Leu)
c.3124G>C (p.Val1042Leu)
c.673G>C (p.Val225Leu)
c.3100G>C (p.Val1034Leu)
c.3187G>C (p.Val1063Leu)
c.3322G>C (p.Val1108Leu)
c.3223G>C (p.Val1075Leu)
c.3160G>C (p.Val1054Leu)
c.3025G>C (p.Val1009Leu)
c.3103G>C (p.Val1035Leu)
c.2902G>C (p.Val968Leu)
c.3001G>C (p.Val1001Leu)
c.3331G>C (p.Val1111Leu)
c.3136G>C (p.Val1046Leu)
c.3109G>C (p.Val1037Leu)
c.3088G>C (p.Val1030Leu)
c.3061G>C (p.Val1021Leu)
c.3259G>C (p.Val1087Leu)
c.850G>C (p.Val284Leu)
c.2704G>C (p.Val902Leu)
c.814G>C (p.Val272Leu)
c.3232G>C (p.Val1078Leu)
c.3085G>C (p.Val1029Leu)
c.2794G>C (p.Val932Leu)
c.2944G>C (p.Val982Leu)
n.134G>C
c.323G>C
c.3199G>C (p.Val1067Leu)
c.3319G>C (p.Val1107Leu)
c.3283G>C (p.Val1095Leu)
c.3373G>C (p.Val1125Leu)
c.3337G>C (p.Val1113Leu)
c.3313G>C (p.Val1105Leu)
c.3358G>C (p.Val1120Leu)
c.3298G>C (p.Val1100Leu)
c.3265G>C (p.Val1089Leu)
c.3328G>C (p.Val1110Leu)
c.3184G>C (p.Val1062Leu)
c.3364G>C (p.Val1122Leu)
c.3256G>C (p.Val1086Leu)
c.3220G>C (p.Val1074Leu)
c.3235G>C (p.Val1079Leu)
c.3145G>C (p.Val1049Leu)
c.3073G>C (p.Val1025Leu)
c.3157G>C (p.Val1053Leu)
c.2986G>C (p.Val996Leu)
c.3403G>C (p.Val1135Leu)
c.3289G>C (p.Val1097Leu)
c.3271G>C (p.Val1091Leu)
c.3343G>C (p.Val1115Leu)
c.2803G>C (p.Val935Leu)
c.3130G>C (p.Val1044Leu)
c.3151G>C (p.Val1051Leu)
dbSNP gnomAD v4
4g.113333115G>TCA357936071ANK2c.3427G>T (p.Val1143Phe)
c.3367G>T (p.Val1123Phe)
n.1469G>T
n.923G>T
n.131G>T
n.6549G>T
n.4923G>T
n.43G>T
n.902G>T
n.2299G>T
n.1666G>T
n.1012G>T
n.1430G>T
n.1881G>T
c.3286G>T (p.Val1096Phe)
c.3124G>T (p.Val1042Phe)
c.673G>T (p.Val225Phe)
c.3100G>T (p.Val1034Phe)
c.3187G>T (p.Val1063Phe)
c.3322G>T (p.Val1108Phe)
c.3223G>T (p.Val1075Phe)
c.3160G>T (p.Val1054Phe)
c.3025G>T (p.Val1009Phe)
c.3103G>T (p.Val1035Phe)
c.2902G>T (p.Val968Phe)
c.3001G>T (p.Val1001Phe)
c.3331G>T (p.Val1111Phe)
c.3136G>T (p.Val1046Phe)
c.3109G>T (p.Val1037Phe)
c.3088G>T (p.Val1030Phe)
c.3061G>T (p.Val1021Phe)
c.3259G>T (p.Val1087Phe)
c.850G>T (p.Val284Phe)
c.2704G>T (p.Val902Phe)
c.814G>T (p.Val272Phe)
c.3232G>T (p.Val1078Phe)
c.3085G>T (p.Val1029Phe)
c.2794G>T (p.Val932Phe)
c.2944G>T (p.Val982Phe)
n.134G>T
c.323G>T
c.3199G>T (p.Val1067Phe)
c.3319G>T (p.Val1107Phe)
c.3283G>T (p.Val1095Phe)
c.3373G>T (p.Val1125Phe)
c.3337G>T (p.Val1113Phe)
c.3313G>T (p.Val1105Phe)
c.3358G>T (p.Val1120Phe)
c.3298G>T (p.Val1100Phe)
c.3265G>T (p.Val1089Phe)
c.3328G>T (p.Val1110Phe)
c.3184G>T (p.Val1062Phe)
c.3364G>T (p.Val1122Phe)
c.3256G>T (p.Val1086Phe)
c.3220G>T (p.Val1074Phe)
c.3235G>T (p.Val1079Phe)
c.3145G>T (p.Val1049Phe)
c.3073G>T (p.Val1025Phe)
c.3157G>T (p.Val1053Phe)
c.2986G>T (p.Val996Phe)
c.3403G>T (p.Val1135Phe)
c.3289G>T (p.Val1097Phe)
c.3271G>T (p.Val1091Phe)
c.3343G>T (p.Val1115Phe)
c.2803G>T (p.Val935Phe)
c.3130G>T (p.Val1044Phe)
c.3151G>T (p.Val1051Phe)
dbSNP
4g.113333116T>ACA357936073ANK2c.3428T>A (p.Val1143Asp)
c.3368T>A (p.Val1123Asp)
n.1470T>A
n.924T>A
n.132T>A
n.6550T>A
n.4924T>A
n.44T>A
n.903T>A
n.2300T>A
n.1667T>A
n.1013T>A
n.1431T>A
n.1882T>A
c.3287T>A (p.Val1096Asp)
c.3125T>A (p.Val1042Asp)
c.674T>A (p.Val225Asp)
c.3101T>A (p.Val1034Asp)
c.3188T>A (p.Val1063Asp)
c.3323T>A (p.Val1108Asp)
c.3224T>A (p.Val1075Asp)
c.3161T>A (p.Val1054Asp)
c.3026T>A (p.Val1009Asp)
c.3104T>A (p.Val1035Asp)
c.2903T>A (p.Val968Asp)
c.3002T>A (p.Val1001Asp)
c.3332T>A (p.Val1111Asp)
c.3137T>A (p.Val1046Asp)
c.3110T>A (p.Val1037Asp)
c.3089T>A (p.Val1030Asp)
c.3062T>A (p.Val1021Asp)
c.3260T>A (p.Val1087Asp)
c.851T>A (p.Val284Asp)
c.2705T>A (p.Val902Asp)
c.815T>A (p.Val272Asp)
c.3233T>A (p.Val1078Asp)
c.3086T>A (p.Val1029Asp)
c.2795T>A (p.Val932Asp)
c.2945T>A (p.Val982Asp)
n.135T>A
c.324T>A
c.3200T>A (p.Val1067Asp)
c.3320T>A (p.Val1107Asp)
c.3284T>A (p.Val1095Asp)
c.3374T>A (p.Val1125Asp)
c.3338T>A (p.Val1113Asp)
c.3314T>A (p.Val1105Asp)
c.3359T>A (p.Val1120Asp)
c.3299T>A (p.Val1100Asp)
c.3266T>A (p.Val1089Asp)
c.3329T>A (p.Val1110Asp)
c.3185T>A (p.Val1062Asp)
c.3365T>A (p.Val1122Asp)
c.3257T>A (p.Val1086Asp)
c.3221T>A (p.Val1074Asp)
c.3236T>A (p.Val1079Asp)
c.3146T>A (p.Val1049Asp)
c.3074T>A (p.Val1025Asp)
c.3158T>A (p.Val1053Asp)
c.2987T>A (p.Val996Asp)
c.3404T>A (p.Val1135Asp)
c.3290T>A (p.Val1097Asp)
c.3272T>A (p.Val1091Asp)
c.3344T>A (p.Val1115Asp)
c.2804T>A (p.Val935Asp)
c.3131T>A (p.Val1044Asp)
c.3152T>A (p.Val1051Asp)
dbSNP
4g.113333116T>CCA357936076ANK2c.3428T>C (p.Val1143Ala)
c.3368T>C (p.Val1123Ala)
n.1470T>C
n.924T>C
n.132T>C
n.6550T>C
n.4924T>C
n.44T>C
n.903T>C
n.2300T>C
n.1667T>C
n.1013T>C
n.1431T>C
n.1882T>C
c.3287T>C (p.Val1096Ala)
c.3125T>C (p.Val1042Ala)
c.674T>C (p.Val225Ala)
c.3101T>C (p.Val1034Ala)
c.3188T>C (p.Val1063Ala)
c.3323T>C (p.Val1108Ala)
c.3224T>C (p.Val1075Ala)
c.3161T>C (p.Val1054Ala)
c.3026T>C (p.Val1009Ala)
c.3104T>C (p.Val1035Ala)
c.2903T>C (p.Val968Ala)
c.3002T>C (p.Val1001Ala)
c.3332T>C (p.Val1111Ala)
c.3137T>C (p.Val1046Ala)
c.3110T>C (p.Val1037Ala)
c.3089T>C (p.Val1030Ala)
c.3062T>C (p.Val1021Ala)
c.3260T>C (p.Val1087Ala)
c.851T>C (p.Val284Ala)
c.2705T>C (p.Val902Ala)
c.815T>C (p.Val272Ala)
c.3233T>C (p.Val1078Ala)
c.3086T>C (p.Val1029Ala)
c.2795T>C (p.Val932Ala)
c.2945T>C (p.Val982Ala)
n.135T>C
c.324T>C
c.3200T>C (p.Val1067Ala)
c.3320T>C (p.Val1107Ala)
c.3284T>C (p.Val1095Ala)
c.3374T>C (p.Val1125Ala)
c.3338T>C (p.Val1113Ala)
c.3314T>C (p.Val1105Ala)
c.3359T>C (p.Val1120Ala)
c.3299T>C (p.Val1100Ala)
c.3266T>C (p.Val1089Ala)
c.3329T>C (p.Val1110Ala)
c.3185T>C (p.Val1062Ala)
c.3365T>C (p.Val1122Ala)
c.3257T>C (p.Val1086Ala)
c.3221T>C (p.Val1074Ala)
c.3236T>C (p.Val1079Ala)
c.3146T>C (p.Val1049Ala)
c.3074T>C (p.Val1025Ala)
c.3158T>C (p.Val1053Ala)
c.2987T>C (p.Val996Ala)
c.3404T>C (p.Val1135Ala)
c.3290T>C (p.Val1097Ala)
c.3272T>C (p.Val1091Ala)
c.3344T>C (p.Val1115Ala)
c.2804T>C (p.Val935Ala)
c.3131T>C (p.Val1044Ala)
c.3152T>C (p.Val1051Ala)
ClinVar dbSNP gnomAD v4
4g.113333116T>GCA357936075ANK2c.3428T>G (p.Val1143Gly)
c.3368T>G (p.Val1123Gly)
n.1470T>G
n.924T>G
n.132T>G
n.6550T>G
n.4924T>G
n.44T>G
n.903T>G
n.2300T>G
n.1667T>G
n.1013T>G
n.1431T>G
n.1882T>G
c.3287T>G (p.Val1096Gly)
c.3125T>G (p.Val1042Gly)
c.674T>G (p.Val225Gly)
c.3101T>G (p.Val1034Gly)
c.3188T>G (p.Val1063Gly)
c.3323T>G (p.Val1108Gly)
c.3224T>G (p.Val1075Gly)
c.3161T>G (p.Val1054Gly)
c.3026T>G (p.Val1009Gly)
c.3104T>G (p.Val1035Gly)
c.2903T>G (p.Val968Gly)
c.3002T>G (p.Val1001Gly)
c.3332T>G (p.Val1111Gly)
c.3137T>G (p.Val1046Gly)
c.3110T>G (p.Val1037Gly)
c.3089T>G (p.Val1030Gly)
c.3062T>G (p.Val1021Gly)
c.3260T>G (p.Val1087Gly)
c.851T>G (p.Val284Gly)
c.2705T>G (p.Val902Gly)
c.815T>G (p.Val272Gly)
c.3233T>G (p.Val1078Gly)
c.3086T>G (p.Val1029Gly)
c.2795T>G (p.Val932Gly)
c.2945T>G (p.Val982Gly)
n.135T>G
c.324T>G
c.3200T>G (p.Val1067Gly)
c.3320T>G (p.Val1107Gly)
c.3284T>G (p.Val1095Gly)
c.3374T>G (p.Val1125Gly)
c.3338T>G (p.Val1113Gly)
c.3314T>G (p.Val1105Gly)
c.3359T>G (p.Val1120Gly)
c.3299T>G (p.Val1100Gly)
c.3266T>G (p.Val1089Gly)
c.3329T>G (p.Val1110Gly)
c.3185T>G (p.Val1062Gly)
c.3365T>G (p.Val1122Gly)
c.3257T>G (p.Val1086Gly)
c.3221T>G (p.Val1074Gly)
c.3236T>G (p.Val1079Gly)
c.3146T>G (p.Val1049Gly)
c.3074T>G (p.Val1025Gly)
c.3158T>G (p.Val1053Gly)
c.2987T>G (p.Val996Gly)
c.3404T>G (p.Val1135Gly)
c.3290T>G (p.Val1097Gly)
c.3272T>G (p.Val1091Gly)
c.3344T>G (p.Val1115Gly)
c.2804T>G (p.Val935Gly)
c.3131T>G (p.Val1044Gly)
c.3152T>G (p.Val1051Gly)
dbSNP
4g.113333117C>ACA440842850ANK2c.3429C>A (p.Val1143=)
c.3369C>A (p.Val1123=)
n.1471C>A
n.925C>A
n.133C>A
n.6551C>A
n.4925C>A
n.45C>A
n.904C>A
n.2301C>A
n.1668C>A
n.1014C>A
n.1432C>A
n.1883C>A
c.3288C>A (p.Val1096=)
c.3126C>A (p.Val1042=)
c.675C>A (p.Val225=)
c.3102C>A (p.Val1034=)
c.3189C>A (p.Val1063=)
c.3324C>A (p.Val1108=)
c.3225C>A (p.Val1075=)
c.3162C>A (p.Val1054=)
c.3027C>A (p.Val1009=)
c.3105C>A (p.Val1035=)
c.2904C>A (p.Val968=)
c.3003C>A (p.Val1001=)
c.3333C>A (p.Val1111=)
c.3138C>A (p.Val1046=)
c.3111C>A (p.Val1037=)
c.3090C>A (p.Val1030=)
c.3063C>A (p.Val1021=)
c.3261C>A (p.Val1087=)
c.852C>A (p.Val284=)
c.2706C>A (p.Val902=)
c.816C>A (p.Val272=)
c.3234C>A (p.Val1078=)
c.3087C>A (p.Val1029=)
c.2796C>A (p.Val932=)
c.2946C>A (p.Val982=)
n.136C>A
c.325C>A
c.3201C>A (p.Val1067=)
c.3321C>A (p.Val1107=)
c.3285C>A (p.Val1095=)
c.3375C>A (p.Val1125=)
c.3339C>A (p.Val1113=)
c.3315C>A (p.Val1105=)
c.3360C>A (p.Val1120=)
c.3300C>A (p.Val1100=)
c.3267C>A (p.Val1089=)
c.3330C>A (p.Val1110=)
c.3186C>A (p.Val1062=)
c.3366C>A (p.Val1122=)
c.3258C>A (p.Val1086=)
c.3222C>A (p.Val1074=)
c.3237C>A (p.Val1079=)
c.3147C>A (p.Val1049=)
c.3075C>A (p.Val1025=)
c.3159C>A (p.Val1053=)
c.2988C>A (p.Val996=)
c.3405C>A (p.Val1135=)
c.3291C>A (p.Val1097=)
c.3273C>A (p.Val1091=)
c.3345C>A (p.Val1115=)
c.2805C>A (p.Val935=)
c.3132C>A (p.Val1044=)
c.3153C>A (p.Val1051=)
dbSNP
4g.113333117C>GCA440842851ANK2c.3429C>G (p.Val1143=)
c.3369C>G (p.Val1123=)
n.1471C>G
n.925C>G
n.133C>G
n.6551C>G
n.4925C>G
n.45C>G
n.904C>G
n.2301C>G
n.1668C>G
n.1014C>G
n.1432C>G
n.1883C>G
c.3288C>G (p.Val1096=)
c.3126C>G (p.Val1042=)
c.675C>G (p.Val225=)
c.3102C>G (p.Val1034=)
c.3189C>G (p.Val1063=)
c.3324C>G (p.Val1108=)
c.3225C>G (p.Val1075=)
c.3162C>G (p.Val1054=)
c.3027C>G (p.Val1009=)
c.3105C>G (p.Val1035=)
c.2904C>G (p.Val968=)
c.3003C>G (p.Val1001=)
c.3333C>G (p.Val1111=)
c.3138C>G (p.Val1046=)
c.3111C>G (p.Val1037=)
c.3090C>G (p.Val1030=)
c.3063C>G (p.Val1021=)
c.3261C>G (p.Val1087=)
c.852C>G (p.Val284=)
c.2706C>G (p.Val902=)
c.816C>G (p.Val272=)
c.3234C>G (p.Val1078=)
c.3087C>G (p.Val1029=)
c.2796C>G (p.Val932=)
c.2946C>G (p.Val982=)
n.136C>G
c.325C>G
c.3201C>G (p.Val1067=)
c.3321C>G (p.Val1107=)
c.3285C>G (p.Val1095=)
c.3375C>G (p.Val1125=)
c.3339C>G (p.Val1113=)
c.3315C>G (p.Val1105=)
c.3360C>G (p.Val1120=)
c.3300C>G (p.Val1100=)
c.3267C>G (p.Val1089=)
c.3330C>G (p.Val1110=)
c.3186C>G (p.Val1062=)
c.3366C>G (p.Val1122=)
c.3258C>G (p.Val1086=)
c.3222C>G (p.Val1074=)
c.3237C>G (p.Val1079=)
c.3147C>G (p.Val1049=)
c.3075C>G (p.Val1025=)
c.3159C>G (p.Val1053=)
c.2988C>G (p.Val996=)
c.3405C>G (p.Val1135=)
c.3291C>G (p.Val1097=)
c.3273C>G (p.Val1091=)
c.3345C>G (p.Val1115=)
c.2805C>G (p.Val935=)
c.3132C>G (p.Val1044=)
c.3153C>G (p.Val1051=)
dbSNP
4g.113333117C>TCA440842852ANK2c.3429C>T (p.Val1143=)
c.3369C>T (p.Val1123=)
n.1471C>T
n.925C>T
n.133C>T
n.6551C>T
n.4925C>T
n.45C>T
n.904C>T
n.2301C>T
n.1668C>T
n.1014C>T
n.1432C>T
n.1883C>T
c.3288C>T (p.Val1096=)
c.3126C>T (p.Val1042=)
c.675C>T (p.Val225=)
c.3102C>T (p.Val1034=)
c.3189C>T (p.Val1063=)
c.3324C>T (p.Val1108=)
c.3225C>T (p.Val1075=)
c.3162C>T (p.Val1054=)
c.3027C>T (p.Val1009=)
c.3105C>T (p.Val1035=)
c.2904C>T (p.Val968=)
c.3003C>T (p.Val1001=)
c.3333C>T (p.Val1111=)
c.3138C>T (p.Val1046=)
c.3111C>T (p.Val1037=)
c.3090C>T (p.Val1030=)
c.3063C>T (p.Val1021=)
c.3261C>T (p.Val1087=)
c.852C>T (p.Val284=)
c.2706C>T (p.Val902=)
c.816C>T (p.Val272=)
c.3234C>T (p.Val1078=)
c.3087C>T (p.Val1029=)
c.2796C>T (p.Val932=)
c.2946C>T (p.Val982=)
n.136C>T
c.325C>T
c.3201C>T (p.Val1067=)
c.3321C>T (p.Val1107=)
c.3285C>T (p.Val1095=)
c.3375C>T (p.Val1125=)
c.3339C>T (p.Val1113=)
c.3315C>T (p.Val1105=)
c.3360C>T (p.Val1120=)
c.3300C>T (p.Val1100=)
c.3267C>T (p.Val1089=)
c.3330C>T (p.Val1110=)
c.3186C>T (p.Val1062=)
c.3366C>T (p.Val1122=)
c.3258C>T (p.Val1086=)
c.3222C>T (p.Val1074=)
c.3237C>T (p.Val1079=)
c.3147C>T (p.Val1049=)
c.3075C>T (p.Val1025=)
c.3159C>T (p.Val1053=)
c.2988C>T (p.Val996=)
c.3405C>T (p.Val1135=)
c.3291C>T (p.Val1097=)
c.3273C>T (p.Val1091=)
c.3345C>T (p.Val1115=)
c.2805C>T (p.Val935=)
c.3132C>T (p.Val1044=)
c.3153C>T (p.Val1051=)
dbSNP gnomAD v4
4g.113333118C>ACA357936078ANK2c.3430C>A (p.Leu1144Met)
c.3370C>A (p.Leu1124Met)
n.1472C>A
n.926C>A
n.134C>A
n.6552C>A
n.4926C>A
n.46C>A
n.905C>A
n.2302C>A
n.1669C>A
n.1015C>A
n.1433C>A
n.1884C>A
c.3289C>A (p.Leu1097Met)
c.3127C>A (p.Leu1043Met)
c.676C>A (p.Leu226Met)
c.3103C>A (p.Leu1035Met)
c.3190C>A (p.Leu1064Met)
c.3325C>A (p.Leu1109Met)
c.3226C>A (p.Leu1076Met)
c.3163C>A (p.Leu1055Met)
c.3028C>A (p.Leu1010Met)
c.3106C>A (p.Leu1036Met)
c.2905C>A (p.Leu969Met)
c.3004C>A (p.Leu1002Met)
c.3334C>A (p.Leu1112Met)
c.3139C>A (p.Leu1047Met)
c.3112C>A (p.Leu1038Met)
c.3091C>A (p.Leu1031Met)
c.3064C>A (p.Leu1022Met)
c.3262C>A (p.Leu1088Met)
c.853C>A (p.Leu285Met)
c.2707C>A (p.Leu903Met)
c.817C>A (p.Leu273Met)
c.3235C>A (p.Leu1079Met)
c.3088C>A (p.Leu1030Met)
c.2797C>A (p.Leu933Met)
c.2947C>A (p.Leu983Met)
n.137C>A
c.326C>A
c.3202C>A (p.Leu1068Met)
c.3322C>A (p.Leu1108Met)
c.3286C>A (p.Leu1096Met)
c.3376C>A (p.Leu1126Met)
c.3340C>A (p.Leu1114Met)
c.3316C>A (p.Leu1106Met)
c.3361C>A (p.Leu1121Met)
c.3301C>A (p.Leu1101Met)
c.3268C>A (p.Leu1090Met)
c.3331C>A (p.Leu1111Met)
c.3187C>A (p.Leu1063Met)
c.3367C>A (p.Leu1123Met)
c.3259C>A (p.Leu1087Met)
c.3223C>A (p.Leu1075Met)
c.3238C>A (p.Leu1080Met)
c.3148C>A (p.Leu1050Met)
c.3076C>A (p.Leu1026Met)
c.3160C>A (p.Leu1054Met)
c.2989C>A (p.Leu997Met)
c.3406C>A (p.Leu1136Met)
c.3292C>A (p.Leu1098Met)
c.3274C>A (p.Leu1092Met)
c.3346C>A (p.Leu1116Met)
c.2806C>A (p.Leu936Met)
c.3133C>A (p.Leu1045Met)
c.3154C>A (p.Leu1052Met)
dbSNP
4g.113333118C>GCA357936080ANK2c.3430C>G (p.Leu1144Val)
c.3370C>G (p.Leu1124Val)
n.1472C>G
n.926C>G
n.134C>G
n.6552C>G
n.4926C>G
n.46C>G
n.905C>G
n.2302C>G
n.1669C>G
n.1015C>G
n.1433C>G
n.1884C>G
c.3289C>G (p.Leu1097Val)
c.3127C>G (p.Leu1043Val)
c.676C>G (p.Leu226Val)
c.3103C>G (p.Leu1035Val)
c.3190C>G (p.Leu1064Val)
c.3325C>G (p.Leu1109Val)
c.3226C>G (p.Leu1076Val)
c.3163C>G (p.Leu1055Val)
c.3028C>G (p.Leu1010Val)
c.3106C>G (p.Leu1036Val)
c.2905C>G (p.Leu969Val)
c.3004C>G (p.Leu1002Val)
c.3334C>G (p.Leu1112Val)
c.3139C>G (p.Leu1047Val)
c.3112C>G (p.Leu1038Val)
c.3091C>G (p.Leu1031Val)
c.3064C>G (p.Leu1022Val)
c.3262C>G (p.Leu1088Val)
c.853C>G (p.Leu285Val)
c.2707C>G (p.Leu903Val)
c.817C>G (p.Leu273Val)
c.3235C>G (p.Leu1079Val)
c.3088C>G (p.Leu1030Val)
c.2797C>G (p.Leu933Val)
c.2947C>G (p.Leu983Val)
n.137C>G
c.326C>G
c.3202C>G (p.Leu1068Val)
c.3322C>G (p.Leu1108Val)
c.3286C>G (p.Leu1096Val)
c.3376C>G (p.Leu1126Val)
c.3340C>G (p.Leu1114Val)
c.3316C>G (p.Leu1106Val)
c.3361C>G (p.Leu1121Val)
c.3301C>G (p.Leu1101Val)
c.3268C>G (p.Leu1090Val)
c.3331C>G (p.Leu1111Val)
c.3187C>G (p.Leu1063Val)
c.3367C>G (p.Leu1123Val)
c.3259C>G (p.Leu1087Val)
c.3223C>G (p.Leu1075Val)
c.3238C>G (p.Leu1080Val)
c.3148C>G (p.Leu1050Val)
c.3076C>G (p.Leu1026Val)
c.3160C>G (p.Leu1054Val)
c.2989C>G (p.Leu997Val)
c.3406C>G (p.Leu1136Val)
c.3292C>G (p.Leu1098Val)
c.3274C>G (p.Leu1092Val)
c.3346C>G (p.Leu1116Val)
c.2806C>G (p.Leu936Val)
c.3133C>G (p.Leu1045Val)
c.3154C>G (p.Leu1052Val)
dbSNP
4g.113333118C>TCA440842853ANK2c.3430C>T (p.Leu1144=)
c.3370C>T (p.Leu1124=)
n.1472C>T
n.926C>T
n.134C>T
n.6552C>T
n.4926C>T
n.46C>T
n.905C>T
n.2302C>T
n.1669C>T
n.1015C>T
n.1433C>T
n.1884C>T
c.3289C>T (p.Leu1097=)
c.3127C>T (p.Leu1043=)
c.676C>T (p.Leu226=)
c.3103C>T (p.Leu1035=)
c.3190C>T (p.Leu1064=)
c.3325C>T (p.Leu1109=)
c.3226C>T (p.Leu1076=)
c.3163C>T (p.Leu1055=)
c.3028C>T (p.Leu1010=)
c.3106C>T (p.Leu1036=)
c.2905C>T (p.Leu969=)
c.3004C>T (p.Leu1002=)
c.3334C>T (p.Leu1112=)
c.3139C>T (p.Leu1047=)
c.3112C>T (p.Leu1038=)
c.3091C>T (p.Leu1031=)
c.3064C>T (p.Leu1022=)
c.3262C>T (p.Leu1088=)
c.853C>T (p.Leu285=)
c.2707C>T (p.Leu903=)
c.817C>T (p.Leu273=)
c.3235C>T (p.Leu1079=)
c.3088C>T (p.Leu1030=)
c.2797C>T (p.Leu933=)
c.2947C>T (p.Leu983=)
n.137C>T
c.326C>T
c.3202C>T (p.Leu1068=)
c.3322C>T (p.Leu1108=)
c.3286C>T (p.Leu1096=)
c.3376C>T (p.Leu1126=)
c.3340C>T (p.Leu1114=)
c.3316C>T (p.Leu1106=)
c.3361C>T (p.Leu1121=)
c.3301C>T (p.Leu1101=)
c.3268C>T (p.Leu1090=)
c.3331C>T (p.Leu1111=)
c.3187C>T (p.Leu1063=)
c.3367C>T (p.Leu1123=)
c.3259C>T (p.Leu1087=)
c.3223C>T (p.Leu1075=)
c.3238C>T (p.Leu1080=)
c.3148C>T (p.Leu1050=)
c.3076C>T (p.Leu1026=)
c.3160C>T (p.Leu1054=)
c.2989C>T (p.Leu997=)
c.3406C>T (p.Leu1136=)
c.3292C>T (p.Leu1098=)
c.3274C>T (p.Leu1092=)
c.3346C>T (p.Leu1116=)
c.2806C>T (p.Leu936=)
c.3133C>T (p.Leu1045=)
c.3154C>T (p.Leu1052=)
dbSNP COSMIC
4g.113333119T>ACA357936082ANK2c.3431T>A (p.Leu1144Gln)
c.3371T>A (p.Leu1124Gln)
n.1473T>A
n.927T>A
n.135T>A
n.6553T>A
n.4927T>A
n.47T>A
n.906T>A
n.2303T>A
n.1670T>A
n.1016T>A
n.1434T>A
n.1885T>A
c.3290T>A (p.Leu1097Gln)
c.3128T>A (p.Leu1043Gln)
c.677T>A (p.Leu226Gln)
c.3104T>A (p.Leu1035Gln)
c.3191T>A (p.Leu1064Gln)
c.3326T>A (p.Leu1109Gln)
c.3227T>A (p.Leu1076Gln)
c.3164T>A (p.Leu1055Gln)
c.3029T>A (p.Leu1010Gln)
c.3107T>A (p.Leu1036Gln)
c.2906T>A (p.Leu969Gln)
c.3005T>A (p.Leu1002Gln)
c.3335T>A (p.Leu1112Gln)
c.3140T>A (p.Leu1047Gln)
c.3113T>A (p.Leu1038Gln)
c.3092T>A (p.Leu1031Gln)
c.3065T>A (p.Leu1022Gln)
c.3263T>A (p.Leu1088Gln)
c.854T>A (p.Leu285Gln)
c.2708T>A (p.Leu903Gln)
c.818T>A (p.Leu273Gln)
c.3236T>A (p.Leu1079Gln)
c.3089T>A (p.Leu1030Gln)
c.2798T>A (p.Leu933Gln)
c.2948T>A (p.Leu983Gln)
n.138T>A
c.327T>A
c.3203T>A (p.Leu1068Gln)
c.3323T>A (p.Leu1108Gln)
c.3287T>A (p.Leu1096Gln)
c.3377T>A (p.Leu1126Gln)
c.3341T>A (p.Leu1114Gln)
c.3317T>A (p.Leu1106Gln)
c.3362T>A (p.Leu1121Gln)
c.3302T>A (p.Leu1101Gln)
c.3269T>A (p.Leu1090Gln)
c.3332T>A (p.Leu1111Gln)
c.3188T>A (p.Leu1063Gln)
c.3368T>A (p.Leu1123Gln)
c.3260T>A (p.Leu1087Gln)
c.3224T>A (p.Leu1075Gln)
c.3239T>A (p.Leu1080Gln)
c.3149T>A (p.Leu1050Gln)
c.3077T>A (p.Leu1026Gln)
c.3161T>A (p.Leu1054Gln)
c.2990T>A (p.Leu997Gln)
c.3407T>A (p.Leu1136Gln)
c.3293T>A (p.Leu1098Gln)
c.3275T>A (p.Leu1092Gln)
c.3347T>A (p.Leu1116Gln)
c.2807T>A (p.Leu936Gln)
c.3134T>A (p.Leu1045Gln)
c.3155T>A (p.Leu1052Gln)
dbSNP
4g.113333119T>CCA357936084ANK2c.3431T>C (p.Leu1144Pro)
c.3371T>C (p.Leu1124Pro)
n.1473T>C
n.927T>C
n.135T>C
n.6553T>C
n.4927T>C
n.47T>C
n.906T>C
n.2303T>C
n.1670T>C
n.1016T>C
n.1434T>C
n.1885T>C
c.3290T>C (p.Leu1097Pro)
c.3128T>C (p.Leu1043Pro)
c.677T>C (p.Leu226Pro)
c.3104T>C (p.Leu1035Pro)
c.3191T>C (p.Leu1064Pro)
c.3326T>C (p.Leu1109Pro)
c.3227T>C (p.Leu1076Pro)
c.3164T>C (p.Leu1055Pro)
c.3029T>C (p.Leu1010Pro)
c.3107T>C (p.Leu1036Pro)
c.2906T>C (p.Leu969Pro)
c.3005T>C (p.Leu1002Pro)
c.3335T>C (p.Leu1112Pro)
c.3140T>C (p.Leu1047Pro)
c.3113T>C (p.Leu1038Pro)
c.3092T>C (p.Leu1031Pro)
c.3065T>C (p.Leu1022Pro)
c.3263T>C (p.Leu1088Pro)
c.854T>C (p.Leu285Pro)
c.2708T>C (p.Leu903Pro)
c.818T>C (p.Leu273Pro)
c.3236T>C (p.Leu1079Pro)
c.3089T>C (p.Leu1030Pro)
c.2798T>C (p.Leu933Pro)
c.2948T>C (p.Leu983Pro)
n.138T>C
c.327T>C
c.3203T>C (p.Leu1068Pro)
c.3323T>C (p.Leu1108Pro)
c.3287T>C (p.Leu1096Pro)
c.3377T>C (p.Leu1126Pro)
c.3341T>C (p.Leu1114Pro)
c.3317T>C (p.Leu1106Pro)
c.3362T>C (p.Leu1121Pro)
c.3302T>C (p.Leu1101Pro)
c.3269T>C (p.Leu1090Pro)
c.3332T>C (p.Leu1111Pro)
c.3188T>C (p.Leu1063Pro)
c.3368T>C (p.Leu1123Pro)
c.3260T>C (p.Leu1087Pro)
c.3224T>C (p.Leu1075Pro)
c.3239T>C (p.Leu1080Pro)
c.3149T>C (p.Leu1050Pro)
c.3077T>C (p.Leu1026Pro)
c.3161T>C (p.Leu1054Pro)
c.2990T>C (p.Leu997Pro)
c.3407T>C (p.Leu1136Pro)
c.3293T>C (p.Leu1098Pro)
c.3275T>C (p.Leu1092Pro)
c.3347T>C (p.Leu1116Pro)
c.2807T>C (p.Leu936Pro)
c.3134T>C (p.Leu1045Pro)
c.3155T>C (p.Leu1052Pro)
dbSNP
4g.113333119T>GCA357936086ANK2c.3431T>G (p.Leu1144Arg)
c.3371T>G (p.Leu1124Arg)
n.1473T>G
n.927T>G
n.135T>G
n.6553T>G
n.4927T>G
n.47T>G
n.906T>G
n.2303T>G
n.1670T>G
n.1016T>G
n.1434T>G
n.1885T>G
c.3290T>G (p.Leu1097Arg)
c.3128T>G (p.Leu1043Arg)
c.677T>G (p.Leu226Arg)
c.3104T>G (p.Leu1035Arg)
c.3191T>G (p.Leu1064Arg)
c.3326T>G (p.Leu1109Arg)
c.3227T>G (p.Leu1076Arg)
c.3164T>G (p.Leu1055Arg)
c.3029T>G (p.Leu1010Arg)
c.3107T>G (p.Leu1036Arg)
c.2906T>G (p.Leu969Arg)
c.3005T>G (p.Leu1002Arg)
c.3335T>G (p.Leu1112Arg)
c.3140T>G (p.Leu1047Arg)
c.3113T>G (p.Leu1038Arg)
c.3092T>G (p.Leu1031Arg)
c.3065T>G (p.Leu1022Arg)
c.3263T>G (p.Leu1088Arg)
c.854T>G (p.Leu285Arg)
c.2708T>G (p.Leu903Arg)
c.818T>G (p.Leu273Arg)
c.3236T>G (p.Leu1079Arg)
c.3089T>G (p.Leu1030Arg)
c.2798T>G (p.Leu933Arg)
c.2948T>G (p.Leu983Arg)
n.138T>G
c.327T>G
c.3203T>G (p.Leu1068Arg)
c.3323T>G (p.Leu1108Arg)
c.3287T>G (p.Leu1096Arg)
c.3377T>G (p.Leu1126Arg)
c.3341T>G (p.Leu1114Arg)
c.3317T>G (p.Leu1106Arg)
c.3362T>G (p.Leu1121Arg)
c.3302T>G (p.Leu1101Arg)
c.3269T>G (p.Leu1090Arg)
c.3332T>G (p.Leu1111Arg)
c.3188T>G (p.Leu1063Arg)
c.3368T>G (p.Leu1123Arg)
c.3260T>G (p.Leu1087Arg)
c.3224T>G (p.Leu1075Arg)
c.3239T>G (p.Leu1080Arg)
c.3149T>G (p.Leu1050Arg)
c.3077T>G (p.Leu1026Arg)
c.3161T>G (p.Leu1054Arg)
c.2990T>G (p.Leu997Arg)
c.3407T>G (p.Leu1136Arg)
c.3293T>G (p.Leu1098Arg)
c.3275T>G (p.Leu1092Arg)
c.3347T>G (p.Leu1116Arg)
c.2807T>G (p.Leu936Arg)
c.3134T>G (p.Leu1045Arg)
c.3155T>G (p.Leu1052Arg)
4g.113333120G>ACA440842854ANK2c.3432G>A (p.Leu1144=)
c.3372G>A (p.Leu1124=)
n.1474G>A
n.928G>A
n.136G>A
n.6554G>A
n.4928G>A
n.48G>A
n.907G>A
n.2304G>A
n.1671G>A
n.1017G>A
n.1435G>A
n.1886G>A
c.3291G>A (p.Leu1097=)
c.3129G>A (p.Leu1043=)
c.678G>A (p.Leu226=)
c.3105G>A (p.Leu1035=)
c.3192G>A (p.Leu1064=)
c.3327G>A (p.Leu1109=)
c.3228G>A (p.Leu1076=)
c.3165G>A (p.Leu1055=)
c.3030G>A (p.Leu1010=)
c.3108G>A (p.Leu1036=)
c.2907G>A (p.Leu969=)
c.3006G>A (p.Leu1002=)
c.3336G>A (p.Leu1112=)
c.3141G>A (p.Leu1047=)
c.3114G>A (p.Leu1038=)
c.3093G>A (p.Leu1031=)
c.3066G>A (p.Leu1022=)
c.3264G>A (p.Leu1088=)
c.855G>A (p.Leu285=)
c.2709G>A (p.Leu903=)
c.819G>A (p.Leu273=)
c.3237G>A (p.Leu1079=)
c.3090G>A (p.Leu1030=)
c.2799G>A (p.Leu933=)
c.2949G>A (p.Leu983=)
n.139G>A
c.328G>A
c.3204G>A (p.Leu1068=)
c.3324G>A (p.Leu1108=)
c.3288G>A (p.Leu1096=)
c.3378G>A (p.Leu1126=)
c.3342G>A (p.Leu1114=)
c.3318G>A (p.Leu1106=)
c.3363G>A (p.Leu1121=)
c.3303G>A (p.Leu1101=)
c.3270G>A (p.Leu1090=)
c.3333G>A (p.Leu1111=)
c.3189G>A (p.Leu1063=)
c.3369G>A (p.Leu1123=)
c.3261G>A (p.Leu1087=)
c.3225G>A (p.Leu1075=)
c.3240G>A (p.Leu1080=)
c.3150G>A (p.Leu1050=)
c.3078G>A (p.Leu1026=)
c.3162G>A (p.Leu1054=)
c.2991G>A (p.Leu997=)
c.3408G>A (p.Leu1136=)
c.3294G>A (p.Leu1098=)
c.3276G>A (p.Leu1092=)
c.3348G>A (p.Leu1116=)
c.2808G>A (p.Leu936=)
c.3135G>A (p.Leu1045=)
c.3156G>A (p.Leu1052=)
dbSNP
4g.113333120G>CCA440842855ANK2c.3432G>C (p.Leu1144=)
c.3372G>C (p.Leu1124=)
n.1474G>C
n.928G>C
n.136G>C
n.6554G>C
n.4928G>C
n.48G>C
n.907G>C
n.2304G>C
n.1671G>C
n.1017G>C
n.1435G>C
n.1886G>C
c.3291G>C (p.Leu1097=)
c.3129G>C (p.Leu1043=)
c.678G>C (p.Leu226=)
c.3105G>C (p.Leu1035=)
c.3192G>C (p.Leu1064=)
c.3327G>C (p.Leu1109=)
c.3228G>C (p.Leu1076=)
c.3165G>C (p.Leu1055=)
c.3030G>C (p.Leu1010=)
c.3108G>C (p.Leu1036=)
c.2907G>C (p.Leu969=)
c.3006G>C (p.Leu1002=)
c.3336G>C (p.Leu1112=)
c.3141G>C (p.Leu1047=)
c.3114G>C (p.Leu1038=)
c.3093G>C (p.Leu1031=)
c.3066G>C (p.Leu1022=)
c.3264G>C (p.Leu1088=)
c.855G>C (p.Leu285=)
c.2709G>C (p.Leu903=)
c.819G>C (p.Leu273=)
c.3237G>C (p.Leu1079=)
c.3090G>C (p.Leu1030=)
c.2799G>C (p.Leu933=)
c.2949G>C (p.Leu983=)
n.139G>C
c.328G>C
c.3204G>C (p.Leu1068=)
c.3324G>C (p.Leu1108=)
c.3288G>C (p.Leu1096=)
c.3378G>C (p.Leu1126=)
c.3342G>C (p.Leu1114=)
c.3318G>C (p.Leu1106=)
c.3363G>C (p.Leu1121=)
c.3303G>C (p.Leu1101=)
c.3270G>C (p.Leu1090=)
c.3333G>C (p.Leu1111=)
c.3189G>C (p.Leu1063=)
c.3369G>C (p.Leu1123=)
c.3261G>C (p.Leu1087=)
c.3225G>C (p.Leu1075=)
c.3240G>C (p.Leu1080=)
c.3150G>C (p.Leu1050=)
c.3078G>C (p.Leu1026=)
c.3162G>C (p.Leu1054=)
c.2991G>C (p.Leu997=)
c.3408G>C (p.Leu1136=)
c.3294G>C (p.Leu1098=)
c.3276G>C (p.Leu1092=)
c.3348G>C (p.Leu1116=)
c.2808G>C (p.Leu936=)
c.3135G>C (p.Leu1045=)
c.3156G>C (p.Leu1052=)
dbSNP
4g.113333120G>TCA440842856ANK2c.3432G>T (p.Leu1144=)
c.3372G>T (p.Leu1124=)
n.1474G>T
n.928G>T
n.136G>T
n.6554G>T
n.4928G>T
n.48G>T
n.907G>T
n.2304G>T
n.1671G>T
n.1017G>T
n.1435G>T
n.1886G>T
c.3291G>T (p.Leu1097=)
c.3129G>T (p.Leu1043=)
c.678G>T (p.Leu226=)
c.3105G>T (p.Leu1035=)
c.3192G>T (p.Leu1064=)
c.3327G>T (p.Leu1109=)
c.3228G>T (p.Leu1076=)
c.3165G>T (p.Leu1055=)
c.3030G>T (p.Leu1010=)
c.3108G>T (p.Leu1036=)
c.2907G>T (p.Leu969=)
c.3006G>T (p.Leu1002=)
c.3336G>T (p.Leu1112=)
c.3141G>T (p.Leu1047=)
c.3114G>T (p.Leu1038=)
c.3093G>T (p.Leu1031=)
c.3066G>T (p.Leu1022=)
c.3264G>T (p.Leu1088=)
c.855G>T (p.Leu285=)
c.2709G>T (p.Leu903=)
c.819G>T (p.Leu273=)
c.3237G>T (p.Leu1079=)
c.3090G>T (p.Leu1030=)
c.2799G>T (p.Leu933=)
c.2949G>T (p.Leu983=)
n.139G>T
c.328G>T
c.3204G>T (p.Leu1068=)
c.3324G>T (p.Leu1108=)
c.3288G>T (p.Leu1096=)
c.3378G>T (p.Leu1126=)
c.3342G>T (p.Leu1114=)
c.3318G>T (p.Leu1106=)
c.3363G>T (p.Leu1121=)
c.3303G>T (p.Leu1101=)
c.3270G>T (p.Leu1090=)
c.3333G>T (p.Leu1111=)
c.3189G>T (p.Leu1063=)
c.3369G>T (p.Leu1123=)
c.3261G>T (p.Leu1087=)
c.3225G>T (p.Leu1075=)
c.3240G>T (p.Leu1080=)
c.3150G>T (p.Leu1050=)
c.3078G>T (p.Leu1026=)
c.3162G>T (p.Leu1054=)
c.2991G>T (p.Leu997=)
c.3408G>T (p.Leu1136=)
c.3294G>T (p.Leu1098=)
c.3276G>T (p.Leu1092=)
c.3348G>T (p.Leu1116=)
c.2808G>T (p.Leu936=)
c.3135G>T (p.Leu1045=)
c.3156G>T (p.Leu1052=)
4g.113333121C>ACA357936088ANK2c.3433C>A (p.Arg1145Ser)
c.3373C>A (p.Arg1125Ser)
n.1475C>A
n.929C>A
n.137C>A
n.6555C>A
n.4929C>A
n.49C>A
n.908C>A
n.2305C>A
n.1672C>A
n.1018C>A
n.1436C>A
n.1887C>A
c.3292C>A (p.Arg1098Ser)
c.3130C>A (p.Arg1044Ser)
c.679C>A (p.Arg227Ser)
c.3106C>A (p.Arg1036Ser)
c.3193C>A (p.Arg1065Ser)
c.3328C>A (p.Arg1110Ser)
c.3229C>A (p.Arg1077Ser)
c.3166C>A (p.Arg1056Ser)
c.3031C>A (p.Arg1011Ser)
c.3109C>A (p.Arg1037Ser)
c.2908C>A (p.Arg970Ser)
c.3007C>A (p.Arg1003Ser)
c.3337C>A (p.Arg1113Ser)
c.3142C>A (p.Arg1048Ser)
c.3115C>A (p.Arg1039Ser)
c.3094C>A (p.Arg1032Ser)
c.3067C>A (p.Arg1023Ser)
c.3265C>A (p.Arg1089Ser)
c.856C>A (p.Arg286Ser)
c.2710C>A (p.Arg904Ser)
c.820C>A (p.Arg274Ser)
c.3238C>A (p.Arg1080Ser)
c.3091C>A (p.Arg1031Ser)
c.2800C>A (p.Arg934Ser)
c.2950C>A (p.Arg984Ser)
n.140C>A
c.329C>A
c.3205C>A (p.Arg1069Ser)
c.3325C>A (p.Arg1109Ser)
c.3289C>A (p.Arg1097Ser)
c.3379C>A (p.Arg1127Ser)
c.3343C>A (p.Arg1115Ser)
c.3319C>A (p.Arg1107Ser)
c.3364C>A (p.Arg1122Ser)
c.3304C>A (p.Arg1102Ser)
c.3271C>A (p.Arg1091Ser)
c.3334C>A (p.Arg1112Ser)
c.3190C>A (p.Arg1064Ser)
c.3370C>A (p.Arg1124Ser)
c.3262C>A (p.Arg1088Ser)
c.3226C>A (p.Arg1076Ser)
c.3241C>A (p.Arg1081Ser)
c.3151C>A (p.Arg1051Ser)
c.3079C>A (p.Arg1027Ser)
c.3163C>A (p.Arg1055Ser)
c.2992C>A (p.Arg998Ser)
c.3409C>A (p.Arg1137Ser)
c.3295C>A (p.Arg1099Ser)
c.3277C>A (p.Arg1093Ser)
c.3349C>A (p.Arg1117Ser)
c.2809C>A (p.Arg937Ser)
c.3136C>A (p.Arg1046Ser)
c.3157C>A (p.Arg1053Ser)
dbSNP gnomAD v4
4g.113333121C>GCA357936090ANK2c.3433C>G (p.Arg1145Gly)
c.3373C>G (p.Arg1125Gly)
n.1475C>G
n.929C>G
n.137C>G
n.6555C>G
n.4929C>G
n.49C>G
n.908C>G
n.2305C>G
n.1672C>G
n.1018C>G
n.1436C>G
n.1887C>G
c.3292C>G (p.Arg1098Gly)
c.3130C>G (p.Arg1044Gly)
c.679C>G (p.Arg227Gly)
c.3106C>G (p.Arg1036Gly)
c.3193C>G (p.Arg1065Gly)
c.3328C>G (p.Arg1110Gly)
c.3229C>G (p.Arg1077Gly)
c.3166C>G (p.Arg1056Gly)
c.3031C>G (p.Arg1011Gly)
c.3109C>G (p.Arg1037Gly)
c.2908C>G (p.Arg970Gly)
c.3007C>G (p.Arg1003Gly)
c.3337C>G (p.Arg1113Gly)
c.3142C>G (p.Arg1048Gly)
c.3115C>G (p.Arg1039Gly)
c.3094C>G (p.Arg1032Gly)
c.3067C>G (p.Arg1023Gly)
c.3265C>G (p.Arg1089Gly)
c.856C>G (p.Arg286Gly)
c.2710C>G (p.Arg904Gly)
c.820C>G (p.Arg274Gly)
c.3238C>G (p.Arg1080Gly)
c.3091C>G (p.Arg1031Gly)
c.2800C>G (p.Arg934Gly)
c.2950C>G (p.Arg984Gly)
n.140C>G
c.329C>G
c.3205C>G (p.Arg1069Gly)
c.3325C>G (p.Arg1109Gly)
c.3289C>G (p.Arg1097Gly)
c.3379C>G (p.Arg1127Gly)
c.3343C>G (p.Arg1115Gly)
c.3319C>G (p.Arg1107Gly)
c.3364C>G (p.Arg1122Gly)
c.3304C>G (p.Arg1102Gly)
c.3271C>G (p.Arg1091Gly)
c.3334C>G (p.Arg1112Gly)
c.3190C>G (p.Arg1064Gly)
c.3370C>G (p.Arg1124Gly)
c.3262C>G (p.Arg1088Gly)
c.3226C>G (p.Arg1076Gly)
c.3241C>G (p.Arg1081Gly)
c.3151C>G (p.Arg1051Gly)
c.3079C>G (p.Arg1027Gly)
c.3163C>G (p.Arg1055Gly)
c.2992C>G (p.Arg998Gly)
c.3409C>G (p.Arg1137Gly)
c.3295C>G (p.Arg1099Gly)
c.3277C>G (p.Arg1093Gly)
c.3349C>G (p.Arg1117Gly)
c.2809C>G (p.Arg937Gly)
c.3136C>G (p.Arg1046Gly)
c.3157C>G (p.Arg1053Gly)
dbSNP gnomAD v3 gnomAD v4
4g.113333121C>TCA3050817ANK2c.3433C>T (p.Arg1145Cys)
c.3373C>T (p.Arg1125Cys)
n.1475C>T
n.929C>T
n.137C>T
n.6555C>T
n.4929C>T
n.49C>T
n.908C>T
n.2305C>T
n.1672C>T
n.1018C>T
n.1436C>T
n.1887C>T
c.3292C>T (p.Arg1098Cys)
c.3130C>T (p.Arg1044Cys)
c.679C>T (p.Arg227Cys)
c.3106C>T (p.Arg1036Cys)
c.3193C>T (p.Arg1065Cys)
c.3328C>T (p.Arg1110Cys)
c.3229C>T (p.Arg1077Cys)
c.3166C>T (p.Arg1056Cys)
c.3031C>T (p.Arg1011Cys)
c.3109C>T (p.Arg1037Cys)
c.2908C>T (p.Arg970Cys)
c.3007C>T (p.Arg1003Cys)
c.3337C>T (p.Arg1113Cys)
c.3142C>T (p.Arg1048Cys)
c.3115C>T (p.Arg1039Cys)
c.3094C>T (p.Arg1032Cys)
c.3067C>T (p.Arg1023Cys)
c.3265C>T (p.Arg1089Cys)
c.856C>T (p.Arg286Cys)
c.2710C>T (p.Arg904Cys)
c.820C>T (p.Arg274Cys)
c.3238C>T (p.Arg1080Cys)
c.3091C>T (p.Arg1031Cys)
c.2800C>T (p.Arg934Cys)
c.2950C>T (p.Arg984Cys)
n.140C>T
c.329C>T
c.3205C>T (p.Arg1069Cys)
c.3325C>T (p.Arg1109Cys)
c.3289C>T (p.Arg1097Cys)
c.3379C>T (p.Arg1127Cys)
c.3343C>T (p.Arg1115Cys)
c.3319C>T (p.Arg1107Cys)
c.3364C>T (p.Arg1122Cys)
c.3304C>T (p.Arg1102Cys)
c.3271C>T (p.Arg1091Cys)
c.3334C>T (p.Arg1112Cys)
c.3190C>T (p.Arg1064Cys)
c.3370C>T (p.Arg1124Cys)
c.3262C>T (p.Arg1088Cys)
c.3226C>T (p.Arg1076Cys)
c.3241C>T (p.Arg1081Cys)
c.3151C>T (p.Arg1051Cys)
c.3079C>T (p.Arg1027Cys)
c.3163C>T (p.Arg1055Cys)
c.2992C>T (p.Arg998Cys)
c.3409C>T (p.Arg1137Cys)
c.3295C>T (p.Arg1099Cys)
c.3277C>T (p.Arg1093Cys)
c.3349C>T (p.Arg1117Cys)
c.2809C>T (p.Arg937Cys)
c.3136C>T (p.Arg1046Cys)
c.3157C>T (p.Arg1053Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC
4g.113333122G>ACA3050818ANK2c.3434G>A (p.Arg1145His)
c.3374G>A (p.Arg1125His)
n.1476G>A
n.930G>A
n.138G>A
n.6556G>A
n.4930G>A
n.50G>A
n.909G>A
n.2306G>A
n.1673G>A
n.1019G>A
n.1437G>A
n.1888G>A
c.3293G>A (p.Arg1098His)
c.3131G>A (p.Arg1044His)
c.680G>A (p.Arg227His)
c.3107G>A (p.Arg1036His)
c.3194G>A (p.Arg1065His)
c.3329G>A (p.Arg1110His)
c.3230G>A (p.Arg1077His)
c.3167G>A (p.Arg1056His)
c.3032G>A (p.Arg1011His)
c.3110G>A (p.Arg1037His)
c.2909G>A (p.Arg970His)
c.3008G>A (p.Arg1003His)
c.3338G>A (p.Arg1113His)
c.3143G>A (p.Arg1048His)
c.3116G>A (p.Arg1039His)
c.3095G>A (p.Arg1032His)
c.3068G>A (p.Arg1023His)
c.3266G>A (p.Arg1089His)
c.857G>A (p.Arg286His)
c.2711G>A (p.Arg904His)
c.821G>A (p.Arg274His)
c.3239G>A (p.Arg1080His)
c.3092G>A (p.Arg1031His)
c.2801G>A (p.Arg934His)
c.2951G>A (p.Arg984His)
n.141G>A
c.330G>A
c.3206G>A (p.Arg1069His)
c.3326G>A (p.Arg1109His)
c.3290G>A (p.Arg1097His)
c.3380G>A (p.Arg1127His)
c.3344G>A (p.Arg1115His)
c.3320G>A (p.Arg1107His)
c.3365G>A (p.Arg1122His)
c.3305G>A (p.Arg1102His)
c.3272G>A (p.Arg1091His)
c.3335G>A (p.Arg1112His)
c.3191G>A (p.Arg1064His)
c.3371G>A (p.Arg1124His)
c.3263G>A (p.Arg1088His)
c.3227G>A (p.Arg1076His)
c.3242G>A (p.Arg1081His)
c.3152G>A (p.Arg1051His)
c.3080G>A (p.Arg1027His)
c.3164G>A (p.Arg1055His)
c.2993G>A (p.Arg998His)
c.3410G>A (p.Arg1137His)
c.3296G>A (p.Arg1099His)
c.3278G>A (p.Arg1093His)
c.3350G>A (p.Arg1117His)
c.2810G>A (p.Arg937His)
c.3137G>A (p.Arg1046His)
c.3158G>A (p.Arg1053His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
4g.113333122G>CCA357936094ANK2c.3434G>C (p.Arg1145Pro)
c.3374G>C (p.Arg1125Pro)
n.1476G>C
n.930G>C
n.138G>C
n.6556G>C
n.4930G>C
n.50G>C
n.909G>C
n.2306G>C
n.1673G>C
n.1019G>C
n.1437G>C
n.1888G>C
c.3293G>C (p.Arg1098Pro)
c.3131G>C (p.Arg1044Pro)
c.680G>C (p.Arg227Pro)
c.3107G>C (p.Arg1036Pro)
c.3194G>C (p.Arg1065Pro)
c.3329G>C (p.Arg1110Pro)
c.3230G>C (p.Arg1077Pro)
c.3167G>C (p.Arg1056Pro)
c.3032G>C (p.Arg1011Pro)
c.3110G>C (p.Arg1037Pro)
c.2909G>C (p.Arg970Pro)
c.3008G>C (p.Arg1003Pro)
c.3338G>C (p.Arg1113Pro)
c.3143G>C (p.Arg1048Pro)
c.3116G>C (p.Arg1039Pro)
c.3095G>C (p.Arg1032Pro)
c.3068G>C (p.Arg1023Pro)
c.3266G>C (p.Arg1089Pro)
c.857G>C (p.Arg286Pro)
c.2711G>C (p.Arg904Pro)
c.821G>C (p.Arg274Pro)
c.3239G>C (p.Arg1080Pro)
c.3092G>C (p.Arg1031Pro)
c.2801G>C (p.Arg934Pro)
c.2951G>C (p.Arg984Pro)
n.141G>C
c.330G>C
c.3206G>C (p.Arg1069Pro)
c.3326G>C (p.Arg1109Pro)
c.3290G>C (p.Arg1097Pro)
c.3380G>C (p.Arg1127Pro)
c.3344G>C (p.Arg1115Pro)
c.3320G>C (p.Arg1107Pro)
c.3365G>C (p.Arg1122Pro)
c.3305G>C (p.Arg1102Pro)
c.3272G>C (p.Arg1091Pro)
c.3335G>C (p.Arg1112Pro)
c.3191G>C (p.Arg1064Pro)
c.3371G>C (p.Arg1124Pro)
c.3263G>C (p.Arg1088Pro)
c.3227G>C (p.Arg1076Pro)
c.3242G>C (p.Arg1081Pro)
c.3152G>C (p.Arg1051Pro)
c.3080G>C (p.Arg1027Pro)
c.3164G>C (p.Arg1055Pro)
c.2993G>C (p.Arg998Pro)
c.3410G>C (p.Arg1137Pro)
c.3296G>C (p.Arg1099Pro)
c.3278G>C (p.Arg1093Pro)
c.3350G>C (p.Arg1117Pro)
c.2810G>C (p.Arg937Pro)
c.3137G>C (p.Arg1046Pro)
c.3158G>C (p.Arg1053Pro)
dbSNP
4g.113333122G>TCA357936096ANK2c.3434G>T (p.Arg1145Leu)
c.3374G>T (p.Arg1125Leu)
n.1476G>T
n.930G>T
n.138G>T
n.6556G>T
n.4930G>T
n.50G>T
n.909G>T
n.2306G>T
n.1673G>T
n.1019G>T
n.1437G>T
n.1888G>T
c.3293G>T (p.Arg1098Leu)
c.3131G>T (p.Arg1044Leu)
c.680G>T (p.Arg227Leu)
c.3107G>T (p.Arg1036Leu)
c.3194G>T (p.Arg1065Leu)
c.3329G>T (p.Arg1110Leu)
c.3230G>T (p.Arg1077Leu)
c.3167G>T (p.Arg1056Leu)
c.3032G>T (p.Arg1011Leu)
c.3110G>T (p.Arg1037Leu)
c.2909G>T (p.Arg970Leu)
c.3008G>T (p.Arg1003Leu)
c.3338G>T (p.Arg1113Leu)
c.3143G>T (p.Arg1048Leu)
c.3116G>T (p.Arg1039Leu)
c.3095G>T (p.Arg1032Leu)
c.3068G>T (p.Arg1023Leu)
c.3266G>T (p.Arg1089Leu)
c.857G>T (p.Arg286Leu)
c.2711G>T (p.Arg904Leu)
c.821G>T (p.Arg274Leu)
c.3239G>T (p.Arg1080Leu)
c.3092G>T (p.Arg1031Leu)
c.2801G>T (p.Arg934Leu)
c.2951G>T (p.Arg984Leu)
n.141G>T
c.330G>T
c.3206G>T (p.Arg1069Leu)
c.3326G>T (p.Arg1109Leu)
c.3290G>T (p.Arg1097Leu)
c.3380G>T (p.Arg1127Leu)
c.3344G>T (p.Arg1115Leu)
c.3320G>T (p.Arg1107Leu)
c.3365G>T (p.Arg1122Leu)
c.3305G>T (p.Arg1102Leu)
c.3272G>T (p.Arg1091Leu)
c.3335G>T (p.Arg1112Leu)
c.3191G>T (p.Arg1064Leu)
c.3371G>T (p.Arg1124Leu)
c.3263G>T (p.Arg1088Leu)
c.3227G>T (p.Arg1076Leu)
c.3242G>T (p.Arg1081Leu)
c.3152G>T (p.Arg1051Leu)
c.3080G>T (p.Arg1027Leu)
c.3164G>T (p.Arg1055Leu)
c.2993G>T (p.Arg998Leu)
c.3410G>T (p.Arg1137Leu)
c.3296G>T (p.Arg1099Leu)
c.3278G>T (p.Arg1093Leu)
c.3350G>T (p.Arg1117Leu)
c.2810G>T (p.Arg937Leu)
c.3137G>T (p.Arg1046Leu)
c.3158G>T (p.Arg1053Leu)
4g.113333123C>ACA440842857ANK2c.3435C>A (p.Arg1145=)
c.3375C>A (p.Arg1125=)
n.1477C>A
n.931C>A
n.139C>A
n.6557C>A
n.4931C>A
n.51C>A
n.910C>A
n.2307C>A
n.1674C>A
n.1020C>A
n.1438C>A
n.1889C>A
c.3294C>A (p.Arg1098=)
c.3132C>A (p.Arg1044=)
c.681C>A (p.Arg227=)
c.3108C>A (p.Arg1036=)
c.3195C>A (p.Arg1065=)
c.3330C>A (p.Arg1110=)
c.3231C>A (p.Arg1077=)
c.3168C>A (p.Arg1056=)
c.3033C>A (p.Arg1011=)
c.3111C>A (p.Arg1037=)
c.2910C>A (p.Arg970=)
c.3009C>A (p.Arg1003=)
c.3339C>A (p.Arg1113=)
c.3144C>A (p.Arg1048=)
c.3117C>A (p.Arg1039=)
c.3096C>A (p.Arg1032=)
c.3069C>A (p.Arg1023=)
c.3267C>A (p.Arg1089=)
c.858C>A (p.Arg286=)
c.2712C>A (p.Arg904=)
c.822C>A (p.Arg274=)
c.3240C>A (p.Arg1080=)
c.3093C>A (p.Arg1031=)
c.2802C>A (p.Arg934=)
c.2952C>A (p.Arg984=)
n.142C>A
c.331C>A
c.3207C>A (p.Arg1069=)
c.3327C>A (p.Arg1109=)
c.3291C>A (p.Arg1097=)
c.3381C>A (p.Arg1127=)
c.3345C>A (p.Arg1115=)
c.3321C>A (p.Arg1107=)
c.3366C>A (p.Arg1122=)
c.3306C>A (p.Arg1102=)
c.3273C>A (p.Arg1091=)
c.3336C>A (p.Arg1112=)
c.3192C>A (p.Arg1064=)
c.3372C>A (p.Arg1124=)
c.3264C>A (p.Arg1088=)
c.3228C>A (p.Arg1076=)
c.3243C>A (p.Arg1081=)
c.3153C>A (p.Arg1051=)
c.3081C>A (p.Arg1027=)
c.3165C>A (p.Arg1055=)
c.2994C>A (p.Arg998=)
c.3411C>A (p.Arg1137=)
c.3297C>A (p.Arg1099=)
c.3279C>A (p.Arg1093=)
c.3351C>A (p.Arg1117=)
c.2811C>A (p.Arg937=)
c.3138C>A (p.Arg1046=)
c.3159C>A (p.Arg1053=)
dbSNP
4g.113333123C>GCA440842859ANK2c.3435C>G (p.Arg1145=)
c.3375C>G (p.Arg1125=)
n.1477C>G
n.931C>G
n.139C>G
n.6557C>G
n.4931C>G
n.51C>G
n.910C>G
n.2307C>G
n.1674C>G
n.1020C>G
n.1438C>G
n.1889C>G
c.3294C>G (p.Arg1098=)
c.3132C>G (p.Arg1044=)
c.681C>G (p.Arg227=)
c.3108C>G (p.Arg1036=)
c.3195C>G (p.Arg1065=)
c.3330C>G (p.Arg1110=)
c.3231C>G (p.Arg1077=)
c.3168C>G (p.Arg1056=)
c.3033C>G (p.Arg1011=)
c.3111C>G (p.Arg1037=)
c.2910C>G (p.Arg970=)
c.3009C>G (p.Arg1003=)
c.3339C>G (p.Arg1113=)
c.3144C>G (p.Arg1048=)
c.3117C>G (p.Arg1039=)
c.3096C>G (p.Arg1032=)
c.3069C>G (p.Arg1023=)
c.3267C>G (p.Arg1089=)
c.858C>G (p.Arg286=)
c.2712C>G (p.Arg904=)
c.822C>G (p.Arg274=)
c.3240C>G (p.Arg1080=)
c.3093C>G (p.Arg1031=)
c.2802C>G (p.Arg934=)
c.2952C>G (p.Arg984=)
n.142C>G
c.331C>G
c.3207C>G (p.Arg1069=)
c.3327C>G (p.Arg1109=)
c.3291C>G (p.Arg1097=)
c.3381C>G (p.Arg1127=)
c.3345C>G (p.Arg1115=)
c.3321C>G (p.Arg1107=)
c.3366C>G (p.Arg1122=)
c.3306C>G (p.Arg1102=)
c.3273C>G (p.Arg1091=)
c.3336C>G (p.Arg1112=)
c.3192C>G (p.Arg1064=)
c.3372C>G (p.Arg1124=)
c.3264C>G (p.Arg1088=)
c.3228C>G (p.Arg1076=)
c.3243C>G (p.Arg1081=)
c.3153C>G (p.Arg1051=)
c.3081C>G (p.Arg1027=)
c.3165C>G (p.Arg1055=)
c.2994C>G (p.Arg998=)
c.3411C>G (p.Arg1137=)
c.3297C>G (p.Arg1099=)
c.3279C>G (p.Arg1093=)
c.3351C>G (p.Arg1117=)
c.2811C>G (p.Arg937=)
c.3138C>G (p.Arg1046=)
c.3159C>G (p.Arg1053=)
dbSNP
4g.113333123C>TCA440842858ANK2c.3435C>T (p.Arg1145=)
c.3375C>T (p.Arg1125=)
n.1477C>T
n.931C>T
n.139C>T
n.6557C>T
n.4931C>T
n.51C>T
n.910C>T
n.2307C>T
n.1674C>T
n.1020C>T
n.1438C>T
n.1889C>T
c.3294C>T (p.Arg1098=)
c.3132C>T (p.Arg1044=)
c.681C>T (p.Arg227=)
c.3108C>T (p.Arg1036=)
c.3195C>T (p.Arg1065=)
c.3330C>T (p.Arg1110=)
c.3231C>T (p.Arg1077=)
c.3168C>T (p.Arg1056=)
c.3033C>T (p.Arg1011=)
c.3111C>T (p.Arg1037=)
c.2910C>T (p.Arg970=)
c.3009C>T (p.Arg1003=)
c.3339C>T (p.Arg1113=)
c.3144C>T (p.Arg1048=)
c.3117C>T (p.Arg1039=)
c.3096C>T (p.Arg1032=)
c.3069C>T (p.Arg1023=)
c.3267C>T (p.Arg1089=)
c.858C>T (p.Arg286=)
c.2712C>T (p.Arg904=)
c.822C>T (p.Arg274=)
c.3240C>T (p.Arg1080=)
c.3093C>T (p.Arg1031=)
c.2802C>T (p.Arg934=)
c.2952C>T (p.Arg984=)
n.142C>T
c.331C>T
c.3207C>T (p.Arg1069=)
c.3327C>T (p.Arg1109=)
c.3291C>T (p.Arg1097=)
c.3381C>T (p.Arg1127=)
c.3345C>T (p.Arg1115=)
c.3321C>T (p.Arg1107=)
c.3366C>T (p.Arg1122=)
c.3306C>T (p.Arg1102=)
c.3273C>T (p.Arg1091=)
c.3336C>T (p.Arg1112=)
c.3192C>T (p.Arg1064=)
c.3372C>T (p.Arg1124=)
c.3264C>T (p.Arg1088=)
c.3228C>T (p.Arg1076=)
c.3243C>T (p.Arg1081=)
c.3153C>T (p.Arg1051=)
c.3081C>T (p.Arg1027=)
c.3165C>T (p.Arg1055=)
c.2994C>T (p.Arg998=)
c.3411C>T (p.Arg1137=)
c.3297C>T (p.Arg1099=)
c.3279C>T (p.Arg1093=)
c.3351C>T (p.Arg1117=)
c.2811C>T (p.Arg937=)
c.3138C>T (p.Arg1046=)
c.3159C>T (p.Arg1053=)
ClinVar dbSNP gnomAD v4
4g.113333124A>CCA3050819ANK2c.3436A>C (p.Ser1146Arg)
c.3376A>C (p.Ser1126Arg)
n.1478A>C
n.932A>C
n.140A>C
n.6558A>C
n.4932A>C
n.52A>C
n.911A>C
n.2308A>C
n.1675A>C
n.1021A>C
n.1439A>C
n.1890A>C
c.3295A>C (p.Ser1099Arg)
c.3133A>C (p.Ser1045Arg)
c.682A>C (p.Ser228Arg)
c.3109A>C (p.Ser1037Arg)
c.3196A>C (p.Ser1066Arg)
c.3331A>C (p.Ser1111Arg)
c.3232A>C (p.Ser1078Arg)
c.3169A>C (p.Ser1057Arg)
c.3034A>C (p.Ser1012Arg)
c.3112A>C (p.Ser1038Arg)
c.2911A>C (p.Ser971Arg)
c.3010A>C (p.Ser1004Arg)
c.3340A>C (p.Ser1114Arg)
c.3145A>C (p.Ser1049Arg)
c.3118A>C (p.Ser1040Arg)
c.3097A>C (p.Ser1033Arg)
c.3070A>C (p.Ser1024Arg)
c.3268A>C (p.Ser1090Arg)
c.859A>C (p.Ser287Arg)
c.2713A>C (p.Ser905Arg)
c.823A>C (p.Ser275Arg)
c.3241A>C (p.Ser1081Arg)
c.3094A>C (p.Ser1032Arg)
c.2803A>C (p.Ser935Arg)
c.2953A>C (p.Ser985Arg)
n.143A>C
c.332A>C
c.3208A>C (p.Ser1070Arg)
c.3328A>C (p.Ser1110Arg)
c.3292A>C (p.Ser1098Arg)
c.3382A>C (p.Ser1128Arg)
c.3346A>C (p.Ser1116Arg)
c.3322A>C (p.Ser1108Arg)
c.3367A>C (p.Ser1123Arg)
c.3307A>C (p.Ser1103Arg)
c.3274A>C (p.Ser1092Arg)
c.3337A>C (p.Ser1113Arg)
c.3193A>C (p.Ser1065Arg)
c.3373A>C (p.Ser1125Arg)
c.3265A>C (p.Ser1089Arg)
c.3229A>C (p.Ser1077Arg)
c.3244A>C (p.Ser1082Arg)
c.3154A>C (p.Ser1052Arg)
c.3082A>C (p.Ser1028Arg)
c.3166A>C (p.Ser1056Arg)
c.2995A>C (p.Ser999Arg)
c.3412A>C (p.Ser1138Arg)
c.3298A>C (p.Ser1100Arg)
c.3280A>C (p.Ser1094Arg)
c.3352A>C (p.Ser1118Arg)
c.2812A>C (p.Ser938Arg)
c.3139A>C (p.Ser1047Arg)
c.3160A>C (p.Ser1054Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.113333124A>GCA357936100ANK2c.3436A>G (p.Ser1146Gly)
c.3376A>G (p.Ser1126Gly)
n.1478A>G
n.932A>G
n.140A>G
n.6558A>G
n.4932A>G
n.52A>G
n.911A>G
n.2308A>G
n.1675A>G
n.1021A>G
n.1439A>G
n.1890A>G
c.3295A>G (p.Ser1099Gly)
c.3133A>G (p.Ser1045Gly)
c.682A>G (p.Ser228Gly)
c.3109A>G (p.Ser1037Gly)
c.3196A>G (p.Ser1066Gly)
c.3331A>G (p.Ser1111Gly)
c.3232A>G (p.Ser1078Gly)
c.3169A>G (p.Ser1057Gly)
c.3034A>G (p.Ser1012Gly)
c.3112A>G (p.Ser1038Gly)
c.2911A>G (p.Ser971Gly)
c.3010A>G (p.Ser1004Gly)
c.3340A>G (p.Ser1114Gly)
c.3145A>G (p.Ser1049Gly)
c.3118A>G (p.Ser1040Gly)
c.3097A>G (p.Ser1033Gly)
c.3070A>G (p.Ser1024Gly)
c.3268A>G (p.Ser1090Gly)
c.859A>G (p.Ser287Gly)
c.2713A>G (p.Ser905Gly)
c.823A>G (p.Ser275Gly)
c.3241A>G (p.Ser1081Gly)
c.3094A>G (p.Ser1032Gly)
c.2803A>G (p.Ser935Gly)
c.2953A>G (p.Ser985Gly)
n.143A>G
c.332A>G
c.3208A>G (p.Ser1070Gly)
c.3328A>G (p.Ser1110Gly)
c.3292A>G (p.Ser1098Gly)
c.3382A>G (p.Ser1128Gly)
c.3346A>G (p.Ser1116Gly)
c.3322A>G (p.Ser1108Gly)
c.3367A>G (p.Ser1123Gly)
c.3307A>G (p.Ser1103Gly)
c.3274A>G (p.Ser1092Gly)
c.3337A>G (p.Ser1113Gly)
c.3193A>G (p.Ser1065Gly)
c.3373A>G (p.Ser1125Gly)
c.3265A>G (p.Ser1089Gly)
c.3229A>G (p.Ser1077Gly)
c.3244A>G (p.Ser1082Gly)
c.3154A>G (p.Ser1052Gly)
c.3082A>G (p.Ser1028Gly)
c.3166A>G (p.Ser1056Gly)
c.2995A>G (p.Ser999Gly)
c.3412A>G (p.Ser1138Gly)
c.3298A>G (p.Ser1100Gly)
c.3280A>G (p.Ser1094Gly)
c.3352A>G (p.Ser1118Gly)
c.2812A>G (p.Ser938Gly)
c.3139A>G (p.Ser1047Gly)
c.3160A>G (p.Ser1054Gly)
4g.113333124A>TCA357936098ANK2c.3436A>T (p.Ser1146Cys)
c.3376A>T (p.Ser1126Cys)
n.1478A>T
n.932A>T
n.140A>T
n.6558A>T
n.4932A>T
n.52A>T
n.911A>T
n.2308A>T
n.1675A>T
n.1021A>T
n.1439A>T
n.1890A>T
c.3295A>T (p.Ser1099Cys)
c.3133A>T (p.Ser1045Cys)
c.682A>T (p.Ser228Cys)
c.3109A>T (p.Ser1037Cys)
c.3196A>T (p.Ser1066Cys)
c.3331A>T (p.Ser1111Cys)
c.3232A>T (p.Ser1078Cys)
c.3169A>T (p.Ser1057Cys)
c.3034A>T (p.Ser1012Cys)
c.3112A>T (p.Ser1038Cys)
c.2911A>T (p.Ser971Cys)
c.3010A>T (p.Ser1004Cys)
c.3340A>T (p.Ser1114Cys)
c.3145A>T (p.Ser1049Cys)
c.3118A>T (p.Ser1040Cys)
c.3097A>T (p.Ser1033Cys)
c.3070A>T (p.Ser1024Cys)
c.3268A>T (p.Ser1090Cys)
c.859A>T (p.Ser287Cys)
c.2713A>T (p.Ser905Cys)
c.823A>T (p.Ser275Cys)
c.3241A>T (p.Ser1081Cys)
c.3094A>T (p.Ser1032Cys)
c.2803A>T (p.Ser935Cys)
c.2953A>T (p.Ser985Cys)
n.143A>T
c.332A>T
c.3208A>T (p.Ser1070Cys)
c.3328A>T (p.Ser1110Cys)
c.3292A>T (p.Ser1098Cys)
c.3382A>T (p.Ser1128Cys)
c.3346A>T (p.Ser1116Cys)
c.3322A>T (p.Ser1108Cys)
c.3367A>T (p.Ser1123Cys)
c.3307A>T (p.Ser1103Cys)
c.3274A>T (p.Ser1092Cys)
c.3337A>T (p.Ser1113Cys)
c.3193A>T (p.Ser1065Cys)
c.3373A>T (p.Ser1125Cys)
c.3265A>T (p.Ser1089Cys)
c.3229A>T (p.Ser1077Cys)
c.3244A>T (p.Ser1082Cys)
c.3154A>T (p.Ser1052Cys)
c.3082A>T (p.Ser1028Cys)
c.3166A>T (p.Ser1056Cys)
c.2995A>T (p.Ser999Cys)
c.3412A>T (p.Ser1138Cys)
c.3298A>T (p.Ser1100Cys)
c.3280A>T (p.Ser1094Cys)
c.3352A>T (p.Ser1118Cys)
c.2812A>T (p.Ser938Cys)
c.3139A>T (p.Ser1047Cys)
c.3160A>T (p.Ser1054Cys)
4g.113333125G>ACA357936102ANK2c.3437G>A (p.Ser1146Asn)
c.3377G>A (p.Ser1126Asn)
n.1479G>A
n.933G>A
n.141G>A
n.6559G>A
n.4933G>A
n.53G>A
n.912G>A
n.2309G>A
n.1676G>A
n.1022G>A
n.1440G>A
n.1891G>A
c.3296G>A (p.Ser1099Asn)
c.3134G>A (p.Ser1045Asn)
c.683G>A (p.Ser228Asn)
c.3110G>A (p.Ser1037Asn)
c.3197G>A (p.Ser1066Asn)
c.3332G>A (p.Ser1111Asn)
c.3233G>A (p.Ser1078Asn)
c.3170G>A (p.Ser1057Asn)
c.3035G>A (p.Ser1012Asn)
c.3113G>A (p.Ser1038Asn)
c.2912G>A (p.Ser971Asn)
c.3011G>A (p.Ser1004Asn)
c.3341G>A (p.Ser1114Asn)
c.3146G>A (p.Ser1049Asn)
c.3119G>A (p.Ser1040Asn)
c.3098G>A (p.Ser1033Asn)
c.3071G>A (p.Ser1024Asn)
c.3269G>A (p.Ser1090Asn)
c.860G>A (p.Ser287Asn)
c.2714G>A (p.Ser905Asn)
c.824G>A (p.Ser275Asn)
c.3242G>A (p.Ser1081Asn)
c.3095G>A (p.Ser1032Asn)
c.2804G>A (p.Ser935Asn)
c.2954G>A (p.Ser985Asn)
n.144G>A
c.333G>A
c.3209G>A (p.Ser1070Asn)
c.3329G>A (p.Ser1110Asn)
c.3293G>A (p.Ser1098Asn)
c.3383G>A (p.Ser1128Asn)
c.3347G>A (p.Ser1116Asn)
c.3323G>A (p.Ser1108Asn)
c.3368G>A (p.Ser1123Asn)
c.3308G>A (p.Ser1103Asn)
c.3275G>A (p.Ser1092Asn)
c.3338G>A (p.Ser1113Asn)
c.3194G>A (p.Ser1065Asn)
c.3374G>A (p.Ser1125Asn)
c.3266G>A (p.Ser1089Asn)
c.3230G>A (p.Ser1077Asn)
c.3245G>A (p.Ser1082Asn)
c.3155G>A (p.Ser1052Asn)
c.3083G>A (p.Ser1028Asn)
c.3167G>A (p.Ser1056Asn)
c.2996G>A (p.Ser999Asn)
c.3413G>A (p.Ser1138Asn)
c.3299G>A (p.Ser1100Asn)
c.3281G>A (p.Ser1094Asn)
c.3353G>A (p.Ser1118Asn)
c.2813G>A (p.Ser938Asn)
c.3140G>A (p.Ser1047Asn)
c.3161G>A (p.Ser1054Asn)
ClinVar dbSNP
4g.113333125G>CCA357936103ANK2c.3437G>C (p.Ser1146Thr)
c.3377G>C (p.Ser1126Thr)
n.1479G>C
n.933G>C
n.141G>C
n.6559G>C
n.4933G>C
n.53G>C
n.912G>C
n.2309G>C
n.1676G>C
n.1022G>C
n.1440G>C
n.1891G>C
c.3296G>C (p.Ser1099Thr)
c.3134G>C (p.Ser1045Thr)
c.683G>C (p.Ser228Thr)
c.3110G>C (p.Ser1037Thr)
c.3197G>C (p.Ser1066Thr)
c.3332G>C (p.Ser1111Thr)
c.3233G>C (p.Ser1078Thr)
c.3170G>C (p.Ser1057Thr)
c.3035G>C (p.Ser1012Thr)
c.3113G>C (p.Ser1038Thr)
c.2912G>C (p.Ser971Thr)
c.3011G>C (p.Ser1004Thr)
c.3341G>C (p.Ser1114Thr)
c.3146G>C (p.Ser1049Thr)
c.3119G>C (p.Ser1040Thr)
c.3098G>C (p.Ser1033Thr)
c.3071G>C (p.Ser1024Thr)
c.3269G>C (p.Ser1090Thr)
c.860G>C (p.Ser287Thr)
c.2714G>C (p.Ser905Thr)
c.824G>C (p.Ser275Thr)
c.3242G>C (p.Ser1081Thr)
c.3095G>C (p.Ser1032Thr)
c.2804G>C (p.Ser935Thr)
c.2954G>C (p.Ser985Thr)
n.144G>C
c.333G>C
c.3209G>C (p.Ser1070Thr)
c.3329G>C (p.Ser1110Thr)
c.3293G>C (p.Ser1098Thr)
c.3383G>C (p.Ser1128Thr)
c.3347G>C (p.Ser1116Thr)
c.3323G>C (p.Ser1108Thr)
c.3368G>C (p.Ser1123Thr)
c.3308G>C (p.Ser1103Thr)
c.3275G>C (p.Ser1092Thr)
c.3338G>C (p.Ser1113Thr)
c.3194G>C (p.Ser1065Thr)
c.3374G>C (p.Ser1125Thr)
c.3266G>C (p.Ser1089Thr)
c.3230G>C (p.Ser1077Thr)
c.3245G>C (p.Ser1082Thr)
c.3155G>C (p.Ser1052Thr)
c.3083G>C (p.Ser1028Thr)
c.3167G>C (p.Ser1056Thr)
c.2996G>C (p.Ser999Thr)
c.3413G>C (p.Ser1138Thr)
c.3299G>C (p.Ser1100Thr)
c.3281G>C (p.Ser1094Thr)
c.3353G>C (p.Ser1118Thr)
c.2813G>C (p.Ser938Thr)
c.3140G>C (p.Ser1047Thr)
c.3161G>C (p.Ser1054Thr)
dbSNP
4g.113333125G>TCA357936106ANK2c.3437G>T (p.Ser1146Ile)
c.3377G>T (p.Ser1126Ile)
n.1479G>T
n.933G>T
n.141G>T
n.6559G>T
n.4933G>T
n.53G>T
n.912G>T
n.2309G>T
n.1676G>T
n.1022G>T
n.1440G>T
n.1891G>T
c.3296G>T (p.Ser1099Ile)
c.3134G>T (p.Ser1045Ile)
c.683G>T (p.Ser228Ile)
c.3110G>T (p.Ser1037Ile)
c.3197G>T (p.Ser1066Ile)
c.3332G>T (p.Ser1111Ile)
c.3233G>T (p.Ser1078Ile)
c.3170G>T (p.Ser1057Ile)
c.3035G>T (p.Ser1012Ile)
c.3113G>T (p.Ser1038Ile)
c.2912G>T (p.Ser971Ile)
c.3011G>T (p.Ser1004Ile)
c.3341G>T (p.Ser1114Ile)
c.3146G>T (p.Ser1049Ile)
c.3119G>T (p.Ser1040Ile)
c.3098G>T (p.Ser1033Ile)
c.3071G>T (p.Ser1024Ile)
c.3269G>T (p.Ser1090Ile)
c.860G>T (p.Ser287Ile)
c.2714G>T (p.Ser905Ile)
c.824G>T (p.Ser275Ile)
c.3242G>T (p.Ser1081Ile)
c.3095G>T (p.Ser1032Ile)
c.2804G>T (p.Ser935Ile)
c.2954G>T (p.Ser985Ile)
n.144G>T
c.333G>T
c.3209G>T (p.Ser1070Ile)
c.3329G>T (p.Ser1110Ile)
c.3293G>T (p.Ser1098Ile)
c.3383G>T (p.Ser1128Ile)
c.3347G>T (p.Ser1116Ile)
c.3323G>T (p.Ser1108Ile)
c.3368G>T (p.Ser1123Ile)
c.3308G>T (p.Ser1103Ile)
c.3275G>T (p.Ser1092Ile)
c.3338G>T (p.Ser1113Ile)
c.3194G>T (p.Ser1065Ile)
c.3374G>T (p.Ser1125Ile)
c.3266G>T (p.Ser1089Ile)
c.3230G>T (p.Ser1077Ile)
c.3245G>T (p.Ser1082Ile)
c.3155G>T (p.Ser1052Ile)
c.3083G>T (p.Ser1028Ile)
c.3167G>T (p.Ser1056Ile)
c.2996G>T (p.Ser999Ile)
c.3413G>T (p.Ser1138Ile)
c.3299G>T (p.Ser1100Ile)
c.3281G>T (p.Ser1094Ile)
c.3353G>T (p.Ser1118Ile)
c.2813G>T (p.Ser938Ile)
c.3140G>T (p.Ser1047Ile)
c.3161G>T (p.Ser1054Ile)
4g.113333126T>ACA357936108ANK2c.3438T>A (p.Ser1146Arg)
c.3378T>A (p.Ser1126Arg)
n.1480T>A
n.934T>A
n.142T>A
n.6560T>A
n.4934T>A
n.54T>A
n.913T>A
n.2310T>A
n.1677T>A
n.1023T>A
n.1441T>A
n.1892T>A
c.3297T>A (p.Ser1099Arg)
c.3135T>A (p.Ser1045Arg)
c.684T>A (p.Ser228Arg)
c.3111T>A (p.Ser1037Arg)
c.3198T>A (p.Ser1066Arg)
c.3333T>A (p.Ser1111Arg)
c.3234T>A (p.Ser1078Arg)
c.3171T>A (p.Ser1057Arg)
c.3036T>A (p.Ser1012Arg)
c.3114T>A (p.Ser1038Arg)
c.2913T>A (p.Ser971Arg)
c.3012T>A (p.Ser1004Arg)
c.3342T>A (p.Ser1114Arg)
c.3147T>A (p.Ser1049Arg)
c.3120T>A (p.Ser1040Arg)
c.3099T>A (p.Ser1033Arg)
c.3072T>A (p.Ser1024Arg)
c.3270T>A (p.Ser1090Arg)
c.861T>A (p.Ser287Arg)
c.2715T>A (p.Ser905Arg)
c.825T>A (p.Ser275Arg)
c.3243T>A (p.Ser1081Arg)
c.3096T>A (p.Ser1032Arg)
c.2805T>A (p.Ser935Arg)
c.2955T>A (p.Ser985Arg)
n.145T>A
c.334T>A
c.3210T>A (p.Ser1070Arg)
c.3330T>A (p.Ser1110Arg)
c.3294T>A (p.Ser1098Arg)
c.3384T>A (p.Ser1128Arg)
c.3348T>A (p.Ser1116Arg)
c.3324T>A (p.Ser1108Arg)
c.3369T>A (p.Ser1123Arg)
c.3309T>A (p.Ser1103Arg)
c.3276T>A (p.Ser1092Arg)
c.3339T>A (p.Ser1113Arg)
c.3195T>A (p.Ser1065Arg)
c.3375T>A (p.Ser1125Arg)
c.3267T>A (p.Ser1089Arg)
c.3231T>A (p.Ser1077Arg)
c.3246T>A (p.Ser1082Arg)
c.3156T>A (p.Ser1052Arg)
c.3084T>A (p.Ser1028Arg)
c.3168T>A (p.Ser1056Arg)
c.2997T>A (p.Ser999Arg)
c.3414T>A (p.Ser1138Arg)
c.3300T>A (p.Ser1100Arg)
c.3282T>A (p.Ser1094Arg)
c.3354T>A (p.Ser1118Arg)
c.2814T>A (p.Ser938Arg)
c.3141T>A (p.Ser1047Arg)
c.3162T>A (p.Ser1054Arg)
dbSNP
4g.113333126T>CCA440842860ANK2c.3438T>C (p.Ser1146=)
c.3378T>C (p.Ser1126=)
n.1480T>C
n.934T>C
n.142T>C
n.6560T>C
n.4934T>C
n.54T>C
n.913T>C
n.2310T>C
n.1677T>C
n.1023T>C
n.1441T>C
n.1892T>C
c.3297T>C (p.Ser1099=)
c.3135T>C (p.Ser1045=)
c.684T>C (p.Ser228=)
c.3111T>C (p.Ser1037=)
c.3198T>C (p.Ser1066=)
c.3333T>C (p.Ser1111=)
c.3234T>C (p.Ser1078=)
c.3171T>C (p.Ser1057=)
c.3036T>C (p.Ser1012=)
c.3114T>C (p.Ser1038=)
c.2913T>C (p.Ser971=)
c.3012T>C (p.Ser1004=)
c.3342T>C (p.Ser1114=)
c.3147T>C (p.Ser1049=)
c.3120T>C (p.Ser1040=)
c.3099T>C (p.Ser1033=)
c.3072T>C (p.Ser1024=)
c.3270T>C (p.Ser1090=)
c.861T>C (p.Ser287=)
c.2715T>C (p.Ser905=)
c.825T>C (p.Ser275=)
c.3243T>C (p.Ser1081=)
c.3096T>C (p.Ser1032=)
c.2805T>C (p.Ser935=)
c.2955T>C (p.Ser985=)
n.145T>C
c.334T>C
c.3210T>C (p.Ser1070=)
c.3330T>C (p.Ser1110=)
c.3294T>C (p.Ser1098=)
c.3384T>C (p.Ser1128=)
c.3348T>C (p.Ser1116=)
c.3324T>C (p.Ser1108=)
c.3369T>C (p.Ser1123=)
c.3309T>C (p.Ser1103=)
c.3276T>C (p.Ser1092=)
c.3339T>C (p.Ser1113=)
c.3195T>C (p.Ser1065=)
c.3375T>C (p.Ser1125=)
c.3267T>C (p.Ser1089=)
c.3231T>C (p.Ser1077=)
c.3246T>C (p.Ser1082=)
c.3156T>C (p.Ser1052=)
c.3084T>C (p.Ser1028=)
c.3168T>C (p.Ser1056=)
c.2997T>C (p.Ser999=)
c.3414T>C (p.Ser1138=)
c.3300T>C (p.Ser1100=)
c.3282T>C (p.Ser1094=)
c.3354T>C (p.Ser1118=)
c.2814T>C (p.Ser938=)
c.3141T>C (p.Ser1047=)
c.3162T>C (p.Ser1054=)
dbSNP
4g.113333126T>GCA357936110ANK2c.3438T>G (p.Ser1146Arg)
c.3378T>G (p.Ser1126Arg)
n.1480T>G
n.934T>G
n.142T>G
n.6560T>G
n.4934T>G
n.54T>G
n.913T>G
n.2310T>G
n.1677T>G
n.1023T>G
n.1441T>G
n.1892T>G
c.3297T>G (p.Ser1099Arg)
c.3135T>G (p.Ser1045Arg)
c.684T>G (p.Ser228Arg)
c.3111T>G (p.Ser1037Arg)
c.3198T>G (p.Ser1066Arg)
c.3333T>G (p.Ser1111Arg)
c.3234T>G (p.Ser1078Arg)
c.3171T>G (p.Ser1057Arg)
c.3036T>G (p.Ser1012Arg)
c.3114T>G (p.Ser1038Arg)
c.2913T>G (p.Ser971Arg)
c.3012T>G (p.Ser1004Arg)
c.3342T>G (p.Ser1114Arg)
c.3147T>G (p.Ser1049Arg)
c.3120T>G (p.Ser1040Arg)
c.3099T>G (p.Ser1033Arg)
c.3072T>G (p.Ser1024Arg)
c.3270T>G (p.Ser1090Arg)
c.861T>G (p.Ser287Arg)
c.2715T>G (p.Ser905Arg)
c.825T>G (p.Ser275Arg)
c.3243T>G (p.Ser1081Arg)
c.3096T>G (p.Ser1032Arg)
c.2805T>G (p.Ser935Arg)
c.2955T>G (p.Ser985Arg)
n.145T>G
c.334T>G
c.3210T>G (p.Ser1070Arg)
c.3330T>G (p.Ser1110Arg)
c.3294T>G (p.Ser1098Arg)
c.3384T>G (p.Ser1128Arg)
c.3348T>G (p.Ser1116Arg)
c.3324T>G (p.Ser1108Arg)
c.3369T>G (p.Ser1123Arg)
c.3309T>G (p.Ser1103Arg)
c.3276T>G (p.Ser1092Arg)
c.3339T>G (p.Ser1113Arg)
c.3195T>G (p.Ser1065Arg)
c.3375T>G (p.Ser1125Arg)
c.3267T>G (p.Ser1089Arg)
c.3231T>G (p.Ser1077Arg)
c.3246T>G (p.Ser1082Arg)
c.3156T>G (p.Ser1052Arg)
c.3084T>G (p.Ser1028Arg)
c.3168T>G (p.Ser1056Arg)
c.2997T>G (p.Ser999Arg)
c.3414T>G (p.Ser1138Arg)
c.3300T>G (p.Ser1100Arg)
c.3282T>G (p.Ser1094Arg)
c.3354T>G (p.Ser1118Arg)
c.2814T>G (p.Ser938Arg)
c.3141T>G (p.Ser1047Arg)
c.3162T>G (p.Ser1054Arg)
4g.113333127G>ACA357936112ANK2c.3439G>A (p.Glu1147Lys)
c.3379G>A (p.Glu1127Lys)
n.1481G>A
n.935G>A
n.143G>A
n.6561G>A
n.4935G>A
n.55G>A
n.914G>A
n.2311G>A
n.1678G>A
n.1024G>A
n.1442G>A
n.1893G>A
c.3298G>A (p.Glu1100Lys)
c.3136G>A (p.Glu1046Lys)
c.685G>A (p.Glu229Lys)
c.3112G>A (p.Glu1038Lys)
c.3199G>A (p.Glu1067Lys)
c.3334G>A (p.Glu1112Lys)
c.3235G>A (p.Glu1079Lys)
c.3172G>A (p.Glu1058Lys)
c.3037G>A (p.Glu1013Lys)
c.3115G>A (p.Glu1039Lys)
c.2914G>A (p.Glu972Lys)
c.3013G>A (p.Glu1005Lys)
c.3343G>A (p.Glu1115Lys)
c.3148G>A (p.Glu1050Lys)
c.3121G>A (p.Glu1041Lys)
c.3100G>A (p.Glu1034Lys)
c.3073G>A (p.Glu1025Lys)
c.3271G>A (p.Glu1091Lys)
c.862G>A (p.Glu288Lys)
c.2716G>A (p.Glu906Lys)
c.826G>A (p.Glu276Lys)
c.3244G>A (p.Glu1082Lys)
c.3097G>A (p.Glu1033Lys)
c.2806G>A (p.Glu936Lys)
c.2956G>A (p.Glu986Lys)
n.146G>A
c.335G>A
c.3211G>A (p.Glu1071Lys)
c.3331G>A (p.Glu1111Lys)
c.3295G>A (p.Glu1099Lys)
c.3385G>A (p.Glu1129Lys)
c.3349G>A (p.Glu1117Lys)
c.3325G>A (p.Glu1109Lys)
c.3370G>A (p.Glu1124Lys)
c.3310G>A (p.Glu1104Lys)
c.3277G>A (p.Glu1093Lys)
c.3340G>A (p.Glu1114Lys)
c.3196G>A (p.Glu1066Lys)
c.3376G>A (p.Glu1126Lys)
c.3268G>A (p.Glu1090Lys)
c.3232G>A (p.Glu1078Lys)
c.3247G>A (p.Glu1083Lys)
c.3157G>A (p.Glu1053Lys)
c.3085G>A (p.Glu1029Lys)
c.3169G>A (p.Glu1057Lys)
c.2998G>A (p.Glu1000Lys)
c.3415G>A (p.Glu1139Lys)
c.3301G>A (p.Glu1101Lys)
c.3283G>A (p.Glu1095Lys)
c.3355G>A (p.Glu1119Lys)
c.2815G>A (p.Glu939Lys)
c.3142G>A (p.Glu1048Lys)
c.3163G>A (p.Glu1055Lys)
ClinVar dbSNP gnomAD v4
4g.113333127G>CCA357936114ANK2c.3439G>C (p.Glu1147Gln)
c.3379G>C (p.Glu1127Gln)
n.1481G>C
n.935G>C
n.143G>C
n.6561G>C
n.4935G>C
n.55G>C
n.914G>C
n.2311G>C
n.1678G>C
n.1024G>C
n.1442G>C
n.1893G>C
c.3298G>C (p.Glu1100Gln)
c.3136G>C (p.Glu1046Gln)
c.685G>C (p.Glu229Gln)
c.3112G>C (p.Glu1038Gln)
c.3199G>C (p.Glu1067Gln)
c.3334G>C (p.Glu1112Gln)
c.3235G>C (p.Glu1079Gln)
c.3172G>C (p.Glu1058Gln)
c.3037G>C (p.Glu1013Gln)
c.3115G>C (p.Glu1039Gln)
c.2914G>C (p.Glu972Gln)
c.3013G>C (p.Glu1005Gln)
c.3343G>C (p.Glu1115Gln)
c.3148G>C (p.Glu1050Gln)
c.3121G>C (p.Glu1041Gln)
c.3100G>C (p.Glu1034Gln)
c.3073G>C (p.Glu1025Gln)
c.3271G>C (p.Glu1091Gln)
c.862G>C (p.Glu288Gln)
c.2716G>C (p.Glu906Gln)
c.826G>C (p.Glu276Gln)
c.3244G>C (p.Glu1082Gln)
c.3097G>C (p.Glu1033Gln)
c.2806G>C (p.Glu936Gln)
c.2956G>C (p.Glu986Gln)
n.146G>C
c.335G>C
c.3211G>C (p.Glu1071Gln)
c.3331G>C (p.Glu1111Gln)
c.3295G>C (p.Glu1099Gln)
c.3385G>C (p.Glu1129Gln)
c.3349G>C (p.Glu1117Gln)
c.3325G>C (p.Glu1109Gln)
c.3370G>C (p.Glu1124Gln)
c.3310G>C (p.Glu1104Gln)
c.3277G>C (p.Glu1093Gln)
c.3340G>C (p.Glu1114Gln)
c.3196G>C (p.Glu1066Gln)
c.3376G>C (p.Glu1126Gln)
c.3268G>C (p.Glu1090Gln)
c.3232G>C (p.Glu1078Gln)
c.3247G>C (p.Glu1083Gln)
c.3157G>C (p.Glu1053Gln)
c.3085G>C (p.Glu1029Gln)
c.3169G>C (p.Glu1057Gln)
c.2998G>C (p.Glu1000Gln)
c.3415G>C (p.Glu1139Gln)
c.3301G>C (p.Glu1101Gln)
c.3283G>C (p.Glu1095Gln)
c.3355G>C (p.Glu1119Gln)
c.2815G>C (p.Glu939Gln)
c.3142G>C (p.Glu1048Gln)
c.3163G>C (p.Glu1055Gln)
dbSNP COSMIC COSMIC
4g.113333127G>TCA357936115ANK2c.3439G>T (p.Glu1147Ter)
c.3379G>T (p.Glu1127Ter)
n.1481G>T
n.935G>T
n.143G>T
n.6561G>T
n.4935G>T
n.55G>T
n.914G>T
n.2311G>T
n.1678G>T
n.1024G>T
n.1442G>T
n.1893G>T
c.3298G>T (p.Glu1100Ter)
c.3136G>T (p.Glu1046Ter)
c.685G>T (p.Glu229Ter)
c.3112G>T (p.Glu1038Ter)
c.3199G>T (p.Glu1067Ter)
c.3334G>T (p.Glu1112Ter)
c.3235G>T (p.Glu1079Ter)
c.3172G>T (p.Glu1058Ter)
c.3037G>T (p.Glu1013Ter)
c.3115G>T (p.Glu1039Ter)
c.2914G>T (p.Glu972Ter)
c.3013G>T (p.Glu1005Ter)
c.3343G>T (p.Glu1115Ter)
c.3148G>T (p.Glu1050Ter)
c.3121G>T (p.Glu1041Ter)
c.3100G>T (p.Glu1034Ter)
c.3073G>T (p.Glu1025Ter)
c.3271G>T (p.Glu1091Ter)
c.862G>T (p.Glu288Ter)
c.2716G>T (p.Glu906Ter)
c.826G>T (p.Glu276Ter)
c.3244G>T (p.Glu1082Ter)
c.3097G>T (p.Glu1033Ter)
c.2806G>T (p.Glu936Ter)
c.2956G>T (p.Glu986Ter)
n.146G>T
c.335G>T
c.3211G>T (p.Glu1071Ter)
c.3331G>T (p.Glu1111Ter)
c.3295G>T (p.Glu1099Ter)
c.3385G>T (p.Glu1129Ter)
c.3349G>T (p.Glu1117Ter)
c.3325G>T (p.Glu1109Ter)
c.3370G>T (p.Glu1124Ter)
c.3310G>T (p.Glu1104Ter)
c.3277G>T (p.Glu1093Ter)
c.3340G>T (p.Glu1114Ter)
c.3196G>T (p.Glu1066Ter)
c.3376G>T (p.Glu1126Ter)
c.3268G>T (p.Glu1090Ter)
c.3232G>T (p.Glu1078Ter)
c.3247G>T (p.Glu1083Ter)
c.3157G>T (p.Glu1053Ter)
c.3085G>T (p.Glu1029Ter)
c.3169G>T (p.Glu1057Ter)
c.2998G>T (p.Glu1000Ter)
c.3415G>T (p.Glu1139Ter)
c.3301G>T (p.Glu1101Ter)
c.3283G>T (p.Glu1095Ter)
c.3355G>T (p.Glu1119Ter)
c.2815G>T (p.Glu939Ter)
c.3142G>T (p.Glu1048Ter)
c.3163G>T (p.Glu1055Ter)
4g.113333128A>CCA357936118ANK2c.3440A>C (p.Glu1147Ala)
c.3380A>C (p.Glu1127Ala)
n.1482A>C
n.936A>C
n.144A>C
n.6562A>C
n.4936A>C
n.56A>C
n.915A>C
n.2312A>C
n.1679A>C
n.1025A>C
n.1443A>C
n.1894A>C
c.3299A>C (p.Glu1100Ala)
c.3137A>C (p.Glu1046Ala)
c.686A>C (p.Glu229Ala)
c.3113A>C (p.Glu1038Ala)
c.3200A>C (p.Glu1067Ala)
c.3335A>C (p.Glu1112Ala)
c.3236A>C (p.Glu1079Ala)
c.3173A>C (p.Glu1058Ala)
c.3038A>C (p.Glu1013Ala)
c.3116A>C (p.Glu1039Ala)
c.2915A>C (p.Glu972Ala)
c.3014A>C (p.Glu1005Ala)
c.3344A>C (p.Glu1115Ala)
c.3149A>C (p.Glu1050Ala)
c.3122A>C (p.Glu1041Ala)
c.3101A>C (p.Glu1034Ala)
c.3074A>C (p.Glu1025Ala)
c.3272A>C (p.Glu1091Ala)
c.863A>C (p.Glu288Ala)
c.2717A>C (p.Glu906Ala)
c.827A>C (p.Glu276Ala)
c.3245A>C (p.Glu1082Ala)
c.3098A>C (p.Glu1033Ala)
c.2807A>C (p.Glu936Ala)
c.2957A>C (p.Glu986Ala)
n.147A>C
c.336A>C
c.3212A>C (p.Glu1071Ala)
c.3332A>C (p.Glu1111Ala)
c.3296A>C (p.Glu1099Ala)
c.3386A>C (p.Glu1129Ala)
c.3350A>C (p.Glu1117Ala)
c.3326A>C (p.Glu1109Ala)
c.3371A>C (p.Glu1124Ala)
c.3311A>C (p.Glu1104Ala)
c.3278A>C (p.Glu1093Ala)
c.3341A>C (p.Glu1114Ala)
c.3197A>C (p.Glu1066Ala)
c.3377A>C (p.Glu1126Ala)
c.3269A>C (p.Glu1090Ala)
c.3233A>C (p.Glu1078Ala)
c.3248A>C (p.Glu1083Ala)
c.3158A>C (p.Glu1053Ala)
c.3086A>C (p.Glu1029Ala)
c.3170A>C (p.Glu1057Ala)
c.2999A>C (p.Glu1000Ala)
c.3416A>C (p.Glu1139Ala)
c.3302A>C (p.Glu1101Ala)
c.3284A>C (p.Glu1095Ala)
c.3356A>C (p.Glu1119Ala)
c.2816A>C (p.Glu939Ala)
c.3143A>C (p.Glu1048Ala)
c.3164A>C (p.Glu1055Ala)
4g.113333128A>GCA357936120ANK2c.3440A>G (p.Glu1147Gly)
c.3380A>G (p.Glu1127Gly)
n.1482A>G
n.936A>G
n.144A>G
n.6562A>G
n.4936A>G
n.56A>G
n.915A>G
n.2312A>G
n.1679A>G
n.1025A>G
n.1443A>G
n.1894A>G
c.3299A>G (p.Glu1100Gly)
c.3137A>G (p.Glu1046Gly)
c.686A>G (p.Glu229Gly)
c.3113A>G (p.Glu1038Gly)
c.3200A>G (p.Glu1067Gly)
c.3335A>G (p.Glu1112Gly)
c.3236A>G (p.Glu1079Gly)
c.3173A>G (p.Glu1058Gly)
c.3038A>G (p.Glu1013Gly)
c.3116A>G (p.Glu1039Gly)
c.2915A>G (p.Glu972Gly)
c.3014A>G (p.Glu1005Gly)
c.3344A>G (p.Glu1115Gly)
c.3149A>G (p.Glu1050Gly)
c.3122A>G (p.Glu1041Gly)
c.3101A>G (p.Glu1034Gly)
c.3074A>G (p.Glu1025Gly)
c.3272A>G (p.Glu1091Gly)
c.863A>G (p.Glu288Gly)
c.2717A>G (p.Glu906Gly)
c.827A>G (p.Glu276Gly)
c.3245A>G (p.Glu1082Gly)
c.3098A>G (p.Glu1033Gly)
c.2807A>G (p.Glu936Gly)
c.2957A>G (p.Glu986Gly)
n.147A>G
c.336A>G
c.3212A>G (p.Glu1071Gly)
c.3332A>G (p.Glu1111Gly)
c.3296A>G (p.Glu1099Gly)
c.3386A>G (p.Glu1129Gly)
c.3350A>G (p.Glu1117Gly)
c.3326A>G (p.Glu1109Gly)
c.3371A>G (p.Glu1124Gly)
c.3311A>G (p.Glu1104Gly)
c.3278A>G (p.Glu1093Gly)
c.3341A>G (p.Glu1114Gly)
c.3197A>G (p.Glu1066Gly)
c.3377A>G (p.Glu1126Gly)
c.3269A>G (p.Glu1090Gly)
c.3233A>G (p.Glu1078Gly)
c.3248A>G (p.Glu1083Gly)
c.3158A>G (p.Glu1053Gly)
c.3086A>G (p.Glu1029Gly)
c.3170A>G (p.Glu1057Gly)
c.2999A>G (p.Glu1000Gly)
c.3416A>G (p.Glu1139Gly)
c.3302A>G (p.Glu1101Gly)
c.3284A>G (p.Glu1095Gly)
c.3356A>G (p.Glu1119Gly)
c.2816A>G (p.Glu939Gly)
c.3143A>G (p.Glu1048Gly)
c.3164A>G (p.Glu1055Gly)
dbSNP

Number of alleles fetched