Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.113333112G>A | CA357936058 | ANK2 | c.3424G>A (p.Val1142Met) c.3364G>A (p.Val1122Met) n.1466G>A n.920G>A n.128G>A n.6546G>A n.4920G>A n.40G>A n.899G>A n.2296G>A n.1663G>A n.1009G>A n.1427G>A n.1878G>A c.3283G>A (p.Val1095Met) c.3121G>A (p.Val1041Met) c.670G>A (p.Val224Met) c.3097G>A (p.Val1033Met) c.3184G>A (p.Val1062Met) c.3319G>A (p.Val1107Met) c.3220G>A (p.Val1074Met) c.3157G>A (p.Val1053Met) c.3022G>A (p.Val1008Met) c.3100G>A (p.Val1034Met) c.2899G>A (p.Val967Met) c.2998G>A (p.Val1000Met) c.3328G>A (p.Val1110Met) c.3133G>A (p.Val1045Met) c.3106G>A (p.Val1036Met) c.3085G>A (p.Val1029Met) c.3058G>A (p.Val1020Met) c.3256G>A (p.Val1086Met) c.847G>A (p.Val283Met) c.2701G>A (p.Val901Met) c.811G>A (p.Val271Met) c.3229G>A (p.Val1077Met) c.3082G>A (p.Val1028Met) c.2791G>A (p.Val931Met) c.2941G>A (p.Val981Met) n.131G>A c.320G>A c.3196G>A (p.Val1066Met) c.3316G>A (p.Val1106Met) c.3280G>A (p.Val1094Met) c.3370G>A (p.Val1124Met) c.3334G>A (p.Val1112Met) c.3310G>A (p.Val1104Met) c.3355G>A (p.Val1119Met) c.3295G>A (p.Val1099Met) c.3262G>A (p.Val1088Met) c.3325G>A (p.Val1109Met) c.3181G>A (p.Val1061Met) c.3361G>A (p.Val1121Met) c.3253G>A (p.Val1085Met) c.3217G>A (p.Val1073Met) c.3232G>A (p.Val1078Met) c.3142G>A (p.Val1048Met) c.3070G>A (p.Val1024Met) c.3154G>A (p.Val1052Met) c.2983G>A (p.Val995Met) c.3400G>A (p.Val1134Met) c.3286G>A (p.Val1096Met) c.3268G>A (p.Val1090Met) c.3340G>A (p.Val1114Met) c.2800G>A (p.Val934Met) c.3127G>A (p.Val1043Met) c.3148G>A (p.Val1050Met) | dbSNP |
4 | g.113333112G>C | CA357936059 | ANK2 | c.3424G>C (p.Val1142Leu) c.3364G>C (p.Val1122Leu) n.1466G>C n.920G>C n.128G>C n.6546G>C n.4920G>C n.40G>C n.899G>C n.2296G>C n.1663G>C n.1009G>C n.1427G>C n.1878G>C c.3283G>C (p.Val1095Leu) c.3121G>C (p.Val1041Leu) c.670G>C (p.Val224Leu) c.3097G>C (p.Val1033Leu) c.3184G>C (p.Val1062Leu) c.3319G>C (p.Val1107Leu) c.3220G>C (p.Val1074Leu) c.3157G>C (p.Val1053Leu) c.3022G>C (p.Val1008Leu) c.3100G>C (p.Val1034Leu) c.2899G>C (p.Val967Leu) c.2998G>C (p.Val1000Leu) c.3328G>C (p.Val1110Leu) c.3133G>C (p.Val1045Leu) c.3106G>C (p.Val1036Leu) c.3085G>C (p.Val1029Leu) c.3058G>C (p.Val1020Leu) c.3256G>C (p.Val1086Leu) c.847G>C (p.Val283Leu) c.2701G>C (p.Val901Leu) c.811G>C (p.Val271Leu) c.3229G>C (p.Val1077Leu) c.3082G>C (p.Val1028Leu) c.2791G>C (p.Val931Leu) c.2941G>C (p.Val981Leu) n.131G>C c.320G>C c.3196G>C (p.Val1066Leu) c.3316G>C (p.Val1106Leu) c.3280G>C (p.Val1094Leu) c.3370G>C (p.Val1124Leu) c.3334G>C (p.Val1112Leu) c.3310G>C (p.Val1104Leu) c.3355G>C (p.Val1119Leu) c.3295G>C (p.Val1099Leu) c.3262G>C (p.Val1088Leu) c.3325G>C (p.Val1109Leu) c.3181G>C (p.Val1061Leu) c.3361G>C (p.Val1121Leu) c.3253G>C (p.Val1085Leu) c.3217G>C (p.Val1073Leu) c.3232G>C (p.Val1078Leu) c.3142G>C (p.Val1048Leu) c.3070G>C (p.Val1024Leu) c.3154G>C (p.Val1052Leu) c.2983G>C (p.Val995Leu) c.3400G>C (p.Val1134Leu) c.3286G>C (p.Val1096Leu) c.3268G>C (p.Val1090Leu) c.3340G>C (p.Val1114Leu) c.2800G>C (p.Val934Leu) c.3127G>C (p.Val1043Leu) c.3148G>C (p.Val1050Leu) | dbSNP |
4 | g.113333112G>T | CA357936060 | ANK2 | c.3424G>T (p.Val1142Leu) c.3364G>T (p.Val1122Leu) n.1466G>T n.920G>T n.128G>T n.6546G>T n.4920G>T n.40G>T n.899G>T n.2296G>T n.1663G>T n.1009G>T n.1427G>T n.1878G>T c.3283G>T (p.Val1095Leu) c.3121G>T (p.Val1041Leu) c.670G>T (p.Val224Leu) c.3097G>T (p.Val1033Leu) c.3184G>T (p.Val1062Leu) c.3319G>T (p.Val1107Leu) c.3220G>T (p.Val1074Leu) c.3157G>T (p.Val1053Leu) c.3022G>T (p.Val1008Leu) c.3100G>T (p.Val1034Leu) c.2899G>T (p.Val967Leu) c.2998G>T (p.Val1000Leu) c.3328G>T (p.Val1110Leu) c.3133G>T (p.Val1045Leu) c.3106G>T (p.Val1036Leu) c.3085G>T (p.Val1029Leu) c.3058G>T (p.Val1020Leu) c.3256G>T (p.Val1086Leu) c.847G>T (p.Val283Leu) c.2701G>T (p.Val901Leu) c.811G>T (p.Val271Leu) c.3229G>T (p.Val1077Leu) c.3082G>T (p.Val1028Leu) c.2791G>T (p.Val931Leu) c.2941G>T (p.Val981Leu) n.131G>T c.320G>T c.3196G>T (p.Val1066Leu) c.3316G>T (p.Val1106Leu) c.3280G>T (p.Val1094Leu) c.3370G>T (p.Val1124Leu) c.3334G>T (p.Val1112Leu) c.3310G>T (p.Val1104Leu) c.3355G>T (p.Val1119Leu) c.3295G>T (p.Val1099Leu) c.3262G>T (p.Val1088Leu) c.3325G>T (p.Val1109Leu) c.3181G>T (p.Val1061Leu) c.3361G>T (p.Val1121Leu) c.3253G>T (p.Val1085Leu) c.3217G>T (p.Val1073Leu) c.3232G>T (p.Val1078Leu) c.3142G>T (p.Val1048Leu) c.3070G>T (p.Val1024Leu) c.3154G>T (p.Val1052Leu) c.2983G>T (p.Val995Leu) c.3400G>T (p.Val1134Leu) c.3286G>T (p.Val1096Leu) c.3268G>T (p.Val1090Leu) c.3340G>T (p.Val1114Leu) c.2800G>T (p.Val934Leu) c.3127G>T (p.Val1043Leu) c.3148G>T (p.Val1050Leu) | dbSNP |
4 | g.113333113T>A | CA357936062 | ANK2 | c.3425T>A (p.Val1142Glu) c.3365T>A (p.Val1122Glu) n.1467T>A n.921T>A n.129T>A n.6547T>A n.4921T>A n.41T>A n.900T>A n.2297T>A n.1664T>A n.1010T>A n.1428T>A n.1879T>A c.3284T>A (p.Val1095Glu) c.3122T>A (p.Val1041Glu) c.671T>A (p.Val224Glu) c.3098T>A (p.Val1033Glu) c.3185T>A (p.Val1062Glu) c.3320T>A (p.Val1107Glu) c.3221T>A (p.Val1074Glu) c.3158T>A (p.Val1053Glu) c.3023T>A (p.Val1008Glu) c.3101T>A (p.Val1034Glu) c.2900T>A (p.Val967Glu) c.2999T>A (p.Val1000Glu) c.3329T>A (p.Val1110Glu) c.3134T>A (p.Val1045Glu) c.3107T>A (p.Val1036Glu) c.3086T>A (p.Val1029Glu) c.3059T>A (p.Val1020Glu) c.3257T>A (p.Val1086Glu) c.848T>A (p.Val283Glu) c.2702T>A (p.Val901Glu) c.812T>A (p.Val271Glu) c.3230T>A (p.Val1077Glu) c.3083T>A (p.Val1028Glu) c.2792T>A (p.Val931Glu) c.2942T>A (p.Val981Glu) n.132T>A c.321T>A c.3197T>A (p.Val1066Glu) c.3317T>A (p.Val1106Glu) c.3281T>A (p.Val1094Glu) c.3371T>A (p.Val1124Glu) c.3335T>A (p.Val1112Glu) c.3311T>A (p.Val1104Glu) c.3356T>A (p.Val1119Glu) c.3296T>A (p.Val1099Glu) c.3263T>A (p.Val1088Glu) c.3326T>A (p.Val1109Glu) c.3182T>A (p.Val1061Glu) c.3362T>A (p.Val1121Glu) c.3254T>A (p.Val1085Glu) c.3218T>A (p.Val1073Glu) c.3233T>A (p.Val1078Glu) c.3143T>A (p.Val1048Glu) c.3071T>A (p.Val1024Glu) c.3155T>A (p.Val1052Glu) c.2984T>A (p.Val995Glu) c.3401T>A (p.Val1134Glu) c.3287T>A (p.Val1096Glu) c.3269T>A (p.Val1090Glu) c.3341T>A (p.Val1114Glu) c.2801T>A (p.Val934Glu) c.3128T>A (p.Val1043Glu) c.3149T>A (p.Val1050Glu) | |
4 | g.113333113T>C | CA357936064 | ANK2 | c.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 |
4 | g.113333113T>G | CA357936065 | ANK2 | c.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) | |
4 | g.113333114G>A | CA440842847 | ANK2 | c.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 |
4 | g.113333114G>C | CA440842848 | ANK2 | c.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=) | |
4 | g.113333114G>T | CA440842849 | ANK2 | c.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=) | |
4 | g.113333115G>A | CA357936068 | ANK2 | c.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 |
4 | g.113333115G>C | CA357936069 | ANK2 | c.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 |
4 | g.113333115G>T | CA357936071 | ANK2 | c.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 |
4 | g.113333116T>A | CA357936073 | ANK2 | c.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 |
4 | g.113333116T>C | CA357936076 | ANK2 | c.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 |
4 | g.113333116T>G | CA357936075 | ANK2 | c.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 |
4 | g.113333117C>A | CA440842850 | ANK2 | c.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 |
4 | g.113333117C>G | CA440842851 | ANK2 | c.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 |
4 | g.113333117C>T | CA440842852 | ANK2 | c.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 |
4 | g.113333118C>A | CA357936078 | ANK2 | c.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 |
4 | g.113333118C>G | CA357936080 | ANK2 | c.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 |
4 | g.113333118C>T | CA440842853 | ANK2 | c.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 |
4 | g.113333119T>A | CA357936082 | ANK2 | c.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 |
4 | g.113333119T>C | CA357936084 | ANK2 | c.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 |
4 | g.113333119T>G | CA357936086 | ANK2 | c.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) | |
4 | g.113333120G>A | CA440842854 | ANK2 | c.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 |
4 | g.113333120G>C | CA440842855 | ANK2 | c.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 |
4 | g.113333120G>T | CA440842856 | ANK2 | c.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=) | |
4 | g.113333121C>A | CA357936088 | ANK2 | c.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 |
4 | g.113333121C>G | CA357936090 | ANK2 | c.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 |
4 | g.113333121C>T | CA3050817 | ANK2 | c.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 |
4 | g.113333122G>A | CA3050818 | ANK2 | c.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 |
4 | g.113333122G>C | CA357936094 | ANK2 | c.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 |
4 | g.113333122G>T | CA357936096 | ANK2 | c.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) | |
4 | g.113333123C>A | CA440842857 | ANK2 | c.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 |
4 | g.113333123C>G | CA440842859 | ANK2 | c.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 |
4 | g.113333123C>T | CA440842858 | ANK2 | c.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 |
4 | g.113333124A>C | CA3050819 | ANK2 | c.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 |
4 | g.113333124A>G | CA357936100 | ANK2 | c.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) | |
4 | g.113333124A>T | CA357936098 | ANK2 | c.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) | |
4 | g.113333125G>A | CA357936102 | ANK2 | c.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 |
4 | g.113333125G>C | CA357936103 | ANK2 | c.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 |
4 | g.113333125G>T | CA357936106 | ANK2 | c.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) | |
4 | g.113333126T>A | CA357936108 | ANK2 | c.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 |
4 | g.113333126T>C | CA440842860 | ANK2 | c.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 |
4 | g.113333126T>G | CA357936110 | ANK2 | c.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) | |
4 | g.113333127G>A | CA357936112 | ANK2 | c.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 |
4 | g.113333127G>C | CA357936114 | ANK2 | c.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 |
4 | g.113333127G>T | CA357936115 | ANK2 | c.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) | |
4 | g.113333128A>C | CA357936118 | ANK2 | c.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) | |
4 | g.113333128A>G | CA357936120 | ANK2 | c.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 |