Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.113333061A>CCA357935837ANK2c.3373A>C (p.Ile1125Leu)
c.3313A>C (p.Ile1105Leu)
n.1415A>C
n.869A>C
n.77A>C
n.6495A>C
n.4869A>C
n.848A>C
n.2245A>C
n.1612A>C
n.958A>C
n.1376A>C
n.1827A>C
c.3232A>C (p.Ile1078Leu)
c.3070A>C (p.Ile1024Leu)
c.619A>C (p.Ile207Leu)
c.3046A>C (p.Ile1016Leu)
c.3133A>C (p.Ile1045Leu)
c.3268A>C (p.Ile1090Leu)
c.3169A>C (p.Ile1057Leu)
c.3106A>C (p.Ile1036Leu)
c.2971A>C (p.Ile991Leu)
c.3049A>C (p.Ile1017Leu)
c.2848A>C (p.Ile950Leu)
c.2947A>C (p.Ile983Leu)
c.3277A>C (p.Ile1093Leu)
c.3082A>C (p.Ile1028Leu)
c.3055A>C (p.Ile1019Leu)
c.3034A>C (p.Ile1012Leu)
c.3007A>C (p.Ile1003Leu)
c.3205A>C (p.Ile1069Leu)
c.796A>C (p.Ile266Leu)
c.2650A>C (p.Ile884Leu)
c.760A>C (p.Ile254Leu)
c.3178A>C (p.Ile1060Leu)
c.3031A>C (p.Ile1011Leu)
c.2740A>C (p.Ile914Leu)
c.2890A>C (p.Ile964Leu)
n.80A>C
c.269A>C
c.3145A>C (p.Ile1049Leu)
c.3265A>C (p.Ile1089Leu)
c.3229A>C (p.Ile1077Leu)
c.3319A>C (p.Ile1107Leu)
c.3283A>C (p.Ile1095Leu)
c.3259A>C (p.Ile1087Leu)
c.3304A>C (p.Ile1102Leu)
c.3244A>C (p.Ile1082Leu)
c.3211A>C (p.Ile1071Leu)
c.3274A>C (p.Ile1092Leu)
c.3130A>C (p.Ile1044Leu)
c.3310A>C (p.Ile1104Leu)
c.3202A>C (p.Ile1068Leu)
c.3166A>C (p.Ile1056Leu)
c.3181A>C (p.Ile1061Leu)
c.3091A>C (p.Ile1031Leu)
c.3019A>C (p.Ile1007Leu)
c.3103A>C (p.Ile1035Leu)
c.2932A>C (p.Ile978Leu)
c.3349A>C (p.Ile1117Leu)
c.3235A>C (p.Ile1079Leu)
c.3217A>C (p.Ile1073Leu)
c.3289A>C (p.Ile1097Leu)
c.2749A>C (p.Ile917Leu)
c.3076A>C (p.Ile1026Leu)
c.3097A>C (p.Ile1033Leu)
4g.113333061A>GCA357935838ANK2c.3373A>G (p.Ile1125Val)
c.3313A>G (p.Ile1105Val)
n.1415A>G
n.869A>G
n.77A>G
n.6495A>G
n.4869A>G
n.848A>G
n.2245A>G
n.1612A>G
n.958A>G
n.1376A>G
n.1827A>G
c.3232A>G (p.Ile1078Val)
c.3070A>G (p.Ile1024Val)
c.619A>G (p.Ile207Val)
c.3046A>G (p.Ile1016Val)
c.3133A>G (p.Ile1045Val)
c.3268A>G (p.Ile1090Val)
c.3169A>G (p.Ile1057Val)
c.3106A>G (p.Ile1036Val)
c.2971A>G (p.Ile991Val)
c.3049A>G (p.Ile1017Val)
c.2848A>G (p.Ile950Val)
c.2947A>G (p.Ile983Val)
c.3277A>G (p.Ile1093Val)
c.3082A>G (p.Ile1028Val)
c.3055A>G (p.Ile1019Val)
c.3034A>G (p.Ile1012Val)
c.3007A>G (p.Ile1003Val)
c.3205A>G (p.Ile1069Val)
c.796A>G (p.Ile266Val)
c.2650A>G (p.Ile884Val)
c.760A>G (p.Ile254Val)
c.3178A>G (p.Ile1060Val)
c.3031A>G (p.Ile1011Val)
c.2740A>G (p.Ile914Val)
c.2890A>G (p.Ile964Val)
n.80A>G
c.269A>G
c.3145A>G (p.Ile1049Val)
c.3265A>G (p.Ile1089Val)
c.3229A>G (p.Ile1077Val)
c.3319A>G (p.Ile1107Val)
c.3283A>G (p.Ile1095Val)
c.3259A>G (p.Ile1087Val)
c.3304A>G (p.Ile1102Val)
c.3244A>G (p.Ile1082Val)
c.3211A>G (p.Ile1071Val)
c.3274A>G (p.Ile1092Val)
c.3130A>G (p.Ile1044Val)
c.3310A>G (p.Ile1104Val)
c.3202A>G (p.Ile1068Val)
c.3166A>G (p.Ile1056Val)
c.3181A>G (p.Ile1061Val)
c.3091A>G (p.Ile1031Val)
c.3019A>G (p.Ile1007Val)
c.3103A>G (p.Ile1035Val)
c.2932A>G (p.Ile978Val)
c.3349A>G (p.Ile1117Val)
c.3235A>G (p.Ile1079Val)
c.3217A>G (p.Ile1073Val)
c.3289A>G (p.Ile1097Val)
c.2749A>G (p.Ile917Val)
c.3076A>G (p.Ile1026Val)
c.3097A>G (p.Ile1033Val)
 ClinVar dbSNP gnomAD v4
4g.113333061A>TCA357935840ANK2c.3373A>T (p.Ile1125Phe)
c.3313A>T (p.Ile1105Phe)
n.1415A>T
n.869A>T
n.77A>T
n.6495A>T
n.4869A>T
n.848A>T
n.2245A>T
n.1612A>T
n.958A>T
n.1376A>T
n.1827A>T
c.3232A>T (p.Ile1078Phe)
c.3070A>T (p.Ile1024Phe)
c.619A>T (p.Ile207Phe)
c.3046A>T (p.Ile1016Phe)
c.3133A>T (p.Ile1045Phe)
c.3268A>T (p.Ile1090Phe)
c.3169A>T (p.Ile1057Phe)
c.3106A>T (p.Ile1036Phe)
c.2971A>T (p.Ile991Phe)
c.3049A>T (p.Ile1017Phe)
c.2848A>T (p.Ile950Phe)
c.2947A>T (p.Ile983Phe)
c.3277A>T (p.Ile1093Phe)
c.3082A>T (p.Ile1028Phe)
c.3055A>T (p.Ile1019Phe)
c.3034A>T (p.Ile1012Phe)
c.3007A>T (p.Ile1003Phe)
c.3205A>T (p.Ile1069Phe)
c.796A>T (p.Ile266Phe)
c.2650A>T (p.Ile884Phe)
c.760A>T (p.Ile254Phe)
c.3178A>T (p.Ile1060Phe)
c.3031A>T (p.Ile1011Phe)
c.2740A>T (p.Ile914Phe)
c.2890A>T (p.Ile964Phe)
n.80A>T
c.269A>T
c.3145A>T (p.Ile1049Phe)
c.3265A>T (p.Ile1089Phe)
c.3229A>T (p.Ile1077Phe)
c.3319A>T (p.Ile1107Phe)
c.3283A>T (p.Ile1095Phe)
c.3259A>T (p.Ile1087Phe)
c.3304A>T (p.Ile1102Phe)
c.3244A>T (p.Ile1082Phe)
c.3211A>T (p.Ile1071Phe)
c.3274A>T (p.Ile1092Phe)
c.3130A>T (p.Ile1044Phe)
c.3310A>T (p.Ile1104Phe)
c.3202A>T (p.Ile1068Phe)
c.3166A>T (p.Ile1056Phe)
c.3181A>T (p.Ile1061Phe)
c.3091A>T (p.Ile1031Phe)
c.3019A>T (p.Ile1007Phe)
c.3103A>T (p.Ile1035Phe)
c.2932A>T (p.Ile978Phe)
c.3349A>T (p.Ile1117Phe)
c.3235A>T (p.Ile1079Phe)
c.3217A>T (p.Ile1073Phe)
c.3289A>T (p.Ile1097Phe)
c.2749A>T (p.Ile917Phe)
c.3076A>T (p.Ile1026Phe)
c.3097A>T (p.Ile1033Phe)
 dbSNP
4g.113333062T>ACA357935842ANK2c.3374T>A (p.Ile1125Asn)
c.3314T>A (p.Ile1105Asn)
n.1416T>A
n.870T>A
n.78T>A
n.6496T>A
n.4870T>A
n.849T>A
n.2246T>A
n.1613T>A
n.959T>A
n.1377T>A
n.1828T>A
c.3233T>A (p.Ile1078Asn)
c.3071T>A (p.Ile1024Asn)
c.620T>A (p.Ile207Asn)
c.3047T>A (p.Ile1016Asn)
c.3134T>A (p.Ile1045Asn)
c.3269T>A (p.Ile1090Asn)
c.3170T>A (p.Ile1057Asn)
c.3107T>A (p.Ile1036Asn)
c.2972T>A (p.Ile991Asn)
c.3050T>A (p.Ile1017Asn)
c.2849T>A (p.Ile950Asn)
c.2948T>A (p.Ile983Asn)
c.3278T>A (p.Ile1093Asn)
c.3083T>A (p.Ile1028Asn)
c.3056T>A (p.Ile1019Asn)
c.3035T>A (p.Ile1012Asn)
c.3008T>A (p.Ile1003Asn)
c.3206T>A (p.Ile1069Asn)
c.797T>A (p.Ile266Asn)
c.2651T>A (p.Ile884Asn)
c.761T>A (p.Ile254Asn)
c.3179T>A (p.Ile1060Asn)
c.3032T>A (p.Ile1011Asn)
c.2741T>A (p.Ile914Asn)
c.2891T>A (p.Ile964Asn)
n.81T>A
c.270T>A
c.3146T>A (p.Ile1049Asn)
c.3266T>A (p.Ile1089Asn)
c.3230T>A (p.Ile1077Asn)
c.3320T>A (p.Ile1107Asn)
c.3284T>A (p.Ile1095Asn)
c.3260T>A (p.Ile1087Asn)
c.3305T>A (p.Ile1102Asn)
c.3245T>A (p.Ile1082Asn)
c.3212T>A (p.Ile1071Asn)
c.3275T>A (p.Ile1092Asn)
c.3131T>A (p.Ile1044Asn)
c.3311T>A (p.Ile1104Asn)
c.3203T>A (p.Ile1068Asn)
c.3167T>A (p.Ile1056Asn)
c.3182T>A (p.Ile1061Asn)
c.3092T>A (p.Ile1031Asn)
c.3020T>A (p.Ile1007Asn)
c.3104T>A (p.Ile1035Asn)
c.2933T>A (p.Ile978Asn)
c.3350T>A (p.Ile1117Asn)
c.3236T>A (p.Ile1079Asn)
c.3218T>A (p.Ile1073Asn)
c.3290T>A (p.Ile1097Asn)
c.2750T>A (p.Ile917Asn)
c.3077T>A (p.Ile1026Asn)
c.3098T>A (p.Ile1033Asn)
 dbSNP
4g.113333062T>CCA357935844ANK2c.3374T>C (p.Ile1125Thr)
c.3314T>C (p.Ile1105Thr)
n.1416T>C
n.870T>C
n.78T>C
n.6496T>C
n.4870T>C
n.849T>C
n.2246T>C
n.1613T>C
n.959T>C
n.1377T>C
n.1828T>C
c.3233T>C (p.Ile1078Thr)
c.3071T>C (p.Ile1024Thr)
c.620T>C (p.Ile207Thr)
c.3047T>C (p.Ile1016Thr)
c.3134T>C (p.Ile1045Thr)
c.3269T>C (p.Ile1090Thr)
c.3170T>C (p.Ile1057Thr)
c.3107T>C (p.Ile1036Thr)
c.2972T>C (p.Ile991Thr)
c.3050T>C (p.Ile1017Thr)
c.2849T>C (p.Ile950Thr)
c.2948T>C (p.Ile983Thr)
c.3278T>C (p.Ile1093Thr)
c.3083T>C (p.Ile1028Thr)
c.3056T>C (p.Ile1019Thr)
c.3035T>C (p.Ile1012Thr)
c.3008T>C (p.Ile1003Thr)
c.3206T>C (p.Ile1069Thr)
c.797T>C (p.Ile266Thr)
c.2651T>C (p.Ile884Thr)
c.761T>C (p.Ile254Thr)
c.3179T>C (p.Ile1060Thr)
c.3032T>C (p.Ile1011Thr)
c.2741T>C (p.Ile914Thr)
c.2891T>C (p.Ile964Thr)
n.81T>C
c.270T>C
c.3146T>C (p.Ile1049Thr)
c.3266T>C (p.Ile1089Thr)
c.3230T>C (p.Ile1077Thr)
c.3320T>C (p.Ile1107Thr)
c.3284T>C (p.Ile1095Thr)
c.3260T>C (p.Ile1087Thr)
c.3305T>C (p.Ile1102Thr)
c.3245T>C (p.Ile1082Thr)
c.3212T>C (p.Ile1071Thr)
c.3275T>C (p.Ile1092Thr)
c.3131T>C (p.Ile1044Thr)
c.3311T>C (p.Ile1104Thr)
c.3203T>C (p.Ile1068Thr)
c.3167T>C (p.Ile1056Thr)
c.3182T>C (p.Ile1061Thr)
c.3092T>C (p.Ile1031Thr)
c.3020T>C (p.Ile1007Thr)
c.3104T>C (p.Ile1035Thr)
c.2933T>C (p.Ile978Thr)
c.3350T>C (p.Ile1117Thr)
c.3236T>C (p.Ile1079Thr)
c.3218T>C (p.Ile1073Thr)
c.3290T>C (p.Ile1097Thr)
c.2750T>C (p.Ile917Thr)
c.3077T>C (p.Ile1026Thr)
c.3098T>C (p.Ile1033Thr)
 dbSNP
4g.113333062T>GCA357935845ANK2c.3374T>G (p.Ile1125Ser)
c.3314T>G (p.Ile1105Ser)
n.1416T>G
n.870T>G
n.78T>G
n.6496T>G
n.4870T>G
n.849T>G
n.2246T>G
n.1613T>G
n.959T>G
n.1377T>G
n.1828T>G
c.3233T>G (p.Ile1078Ser)
c.3071T>G (p.Ile1024Ser)
c.620T>G (p.Ile207Ser)
c.3047T>G (p.Ile1016Ser)
c.3134T>G (p.Ile1045Ser)
c.3269T>G (p.Ile1090Ser)
c.3170T>G (p.Ile1057Ser)
c.3107T>G (p.Ile1036Ser)
c.2972T>G (p.Ile991Ser)
c.3050T>G (p.Ile1017Ser)
c.2849T>G (p.Ile950Ser)
c.2948T>G (p.Ile983Ser)
c.3278T>G (p.Ile1093Ser)
c.3083T>G (p.Ile1028Ser)
c.3056T>G (p.Ile1019Ser)
c.3035T>G (p.Ile1012Ser)
c.3008T>G (p.Ile1003Ser)
c.3206T>G (p.Ile1069Ser)
c.797T>G (p.Ile266Ser)
c.2651T>G (p.Ile884Ser)
c.761T>G (p.Ile254Ser)
c.3179T>G (p.Ile1060Ser)
c.3032T>G (p.Ile1011Ser)
c.2741T>G (p.Ile914Ser)
c.2891T>G (p.Ile964Ser)
n.81T>G
c.270T>G
c.3146T>G (p.Ile1049Ser)
c.3266T>G (p.Ile1089Ser)
c.3230T>G (p.Ile1077Ser)
c.3320T>G (p.Ile1107Ser)
c.3284T>G (p.Ile1095Ser)
c.3260T>G (p.Ile1087Ser)
c.3305T>G (p.Ile1102Ser)
c.3245T>G (p.Ile1082Ser)
c.3212T>G (p.Ile1071Ser)
c.3275T>G (p.Ile1092Ser)
c.3131T>G (p.Ile1044Ser)
c.3311T>G (p.Ile1104Ser)
c.3203T>G (p.Ile1068Ser)
c.3167T>G (p.Ile1056Ser)
c.3182T>G (p.Ile1061Ser)
c.3092T>G (p.Ile1031Ser)
c.3020T>G (p.Ile1007Ser)
c.3104T>G (p.Ile1035Ser)
c.2933T>G (p.Ile978Ser)
c.3350T>G (p.Ile1117Ser)
c.3236T>G (p.Ile1079Ser)
c.3218T>G (p.Ile1073Ser)
c.3290T>G (p.Ile1097Ser)
c.2750T>G (p.Ile917Ser)
c.3077T>G (p.Ile1026Ser)
c.3098T>G (p.Ile1033Ser)
 dbSNP
4g.113333063C>ACA3050811ANK2c.3375C>A (p.Ile1125=)
c.3315C>A (p.Ile1105=)
n.1417C>A
n.871C>A
n.79C>A
n.6497C>A
n.4871C>A
n.850C>A
n.2247C>A
n.1614C>A
n.960C>A
n.1378C>A
n.1829C>A
c.3234C>A (p.Ile1078=)
c.3072C>A (p.Ile1024=)
c.621C>A (p.Ile207=)
c.3048C>A (p.Ile1016=)
c.3135C>A (p.Ile1045=)
c.3270C>A (p.Ile1090=)
c.3171C>A (p.Ile1057=)
c.3108C>A (p.Ile1036=)
c.2973C>A (p.Ile991=)
c.3051C>A (p.Ile1017=)
c.2850C>A (p.Ile950=)
c.2949C>A (p.Ile983=)
c.3279C>A (p.Ile1093=)
c.3084C>A (p.Ile1028=)
c.3057C>A (p.Ile1019=)
c.3036C>A (p.Ile1012=)
c.3009C>A (p.Ile1003=)
c.3207C>A (p.Ile1069=)
c.798C>A (p.Ile266=)
c.2652C>A (p.Ile884=)
c.762C>A (p.Ile254=)
c.3180C>A (p.Ile1060=)
c.3033C>A (p.Ile1011=)
c.2742C>A (p.Ile914=)
c.2892C>A (p.Ile964=)
n.82C>A
c.271C>A
c.3147C>A (p.Ile1049=)
c.3267C>A (p.Ile1089=)
c.3231C>A (p.Ile1077=)
c.3321C>A (p.Ile1107=)
c.3285C>A (p.Ile1095=)
c.3261C>A (p.Ile1087=)
c.3306C>A (p.Ile1102=)
c.3246C>A (p.Ile1082=)
c.3213C>A (p.Ile1071=)
c.3276C>A (p.Ile1092=)
c.3132C>A (p.Ile1044=)
c.3312C>A (p.Ile1104=)
c.3204C>A (p.Ile1068=)
c.3168C>A (p.Ile1056=)
c.3183C>A (p.Ile1061=)
c.3093C>A (p.Ile1031=)
c.3021C>A (p.Ile1007=)
c.3105C>A (p.Ile1035=)
c.2934C>A (p.Ile978=)
c.3351C>A (p.Ile1117=)
c.3237C>A (p.Ile1079=)
c.3219C>A (p.Ile1073=)
c.3291C>A (p.Ile1097=)
c.2751C>A (p.Ile917=)
c.3078C>A (p.Ile1026=)
c.3099C>A (p.Ile1033=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.113333063C>GCA357935849ANK2c.3375C>G (p.Ile1125Met)
c.3315C>G (p.Ile1105Met)
n.1417C>G
n.871C>G
n.79C>G
n.6497C>G
n.4871C>G
n.850C>G
n.2247C>G
n.1614C>G
n.960C>G
n.1378C>G
n.1829C>G
c.3234C>G (p.Ile1078Met)
c.3072C>G (p.Ile1024Met)
c.621C>G (p.Ile207Met)
c.3048C>G (p.Ile1016Met)
c.3135C>G (p.Ile1045Met)
c.3270C>G (p.Ile1090Met)
c.3171C>G (p.Ile1057Met)
c.3108C>G (p.Ile1036Met)
c.2973C>G (p.Ile991Met)
c.3051C>G (p.Ile1017Met)
c.2850C>G (p.Ile950Met)
c.2949C>G (p.Ile983Met)
c.3279C>G (p.Ile1093Met)
c.3084C>G (p.Ile1028Met)
c.3057C>G (p.Ile1019Met)
c.3036C>G (p.Ile1012Met)
c.3009C>G (p.Ile1003Met)
c.3207C>G (p.Ile1069Met)
c.798C>G (p.Ile266Met)
c.2652C>G (p.Ile884Met)
c.762C>G (p.Ile254Met)
c.3180C>G (p.Ile1060Met)
c.3033C>G (p.Ile1011Met)
c.2742C>G (p.Ile914Met)
c.2892C>G (p.Ile964Met)
n.82C>G
c.271C>G
c.3147C>G (p.Ile1049Met)
c.3267C>G (p.Ile1089Met)
c.3231C>G (p.Ile1077Met)
c.3321C>G (p.Ile1107Met)
c.3285C>G (p.Ile1095Met)
c.3261C>G (p.Ile1087Met)
c.3306C>G (p.Ile1102Met)
c.3246C>G (p.Ile1082Met)
c.3213C>G (p.Ile1071Met)
c.3276C>G (p.Ile1092Met)
c.3132C>G (p.Ile1044Met)
c.3312C>G (p.Ile1104Met)
c.3204C>G (p.Ile1068Met)
c.3168C>G (p.Ile1056Met)
c.3183C>G (p.Ile1061Met)
c.3093C>G (p.Ile1031Met)
c.3021C>G (p.Ile1007Met)
c.3105C>G (p.Ile1035Met)
c.2934C>G (p.Ile978Met)
c.3351C>G (p.Ile1117Met)
c.3237C>G (p.Ile1079Met)
c.3219C>G (p.Ile1073Met)
c.3291C>G (p.Ile1097Met)
c.2751C>G (p.Ile917Met)
c.3078C>G (p.Ile1026Met)
c.3099C>G (p.Ile1033Met)
4g.113333063C>TCA3050810ANK2c.3375C>T (p.Ile1125=)
c.3315C>T (p.Ile1105=)
n.1417C>T
n.871C>T
n.79C>T
n.6497C>T
n.4871C>T
n.850C>T
n.2247C>T
n.1614C>T
n.960C>T
n.1378C>T
n.1829C>T
c.3234C>T (p.Ile1078=)
c.3072C>T (p.Ile1024=)
c.621C>T (p.Ile207=)
c.3048C>T (p.Ile1016=)
c.3135C>T (p.Ile1045=)
c.3270C>T (p.Ile1090=)
c.3171C>T (p.Ile1057=)
c.3108C>T (p.Ile1036=)
c.2973C>T (p.Ile991=)
c.3051C>T (p.Ile1017=)
c.2850C>T (p.Ile950=)
c.2949C>T (p.Ile983=)
c.3279C>T (p.Ile1093=)
c.3084C>T (p.Ile1028=)
c.3057C>T (p.Ile1019=)
c.3036C>T (p.Ile1012=)
c.3009C>T (p.Ile1003=)
c.3207C>T (p.Ile1069=)
c.798C>T (p.Ile266=)
c.2652C>T (p.Ile884=)
c.762C>T (p.Ile254=)
c.3180C>T (p.Ile1060=)
c.3033C>T (p.Ile1011=)
c.2742C>T (p.Ile914=)
c.2892C>T (p.Ile964=)
n.82C>T
c.271C>T
c.3147C>T (p.Ile1049=)
c.3267C>T (p.Ile1089=)
c.3231C>T (p.Ile1077=)
c.3321C>T (p.Ile1107=)
c.3285C>T (p.Ile1095=)
c.3261C>T (p.Ile1087=)
c.3306C>T (p.Ile1102=)
c.3246C>T (p.Ile1082=)
c.3213C>T (p.Ile1071=)
c.3276C>T (p.Ile1092=)
c.3132C>T (p.Ile1044=)
c.3312C>T (p.Ile1104=)
c.3204C>T (p.Ile1068=)
c.3168C>T (p.Ile1056=)
c.3183C>T (p.Ile1061=)
c.3093C>T (p.Ile1031=)
c.3021C>T (p.Ile1007=)
c.3105C>T (p.Ile1035=)
c.2934C>T (p.Ile978=)
c.3351C>T (p.Ile1117=)
c.3237C>T (p.Ile1079=)
c.3219C>T (p.Ile1073=)
c.3291C>T (p.Ile1097=)
c.2751C>T (p.Ile917=)
c.3078C>T (p.Ile1026=)
c.3099C>T (p.Ile1033=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.113333064G>ACA16611578ANK2c.3376G>A (p.Val1126Met)
c.3316G>A (p.Val1106Met)
n.1418G>A
n.872G>A
n.80G>A
n.6498G>A
n.4872G>A
n.851G>A
n.2248G>A
n.1615G>A
n.961G>A
n.1379G>A
n.1830G>A
c.3235G>A (p.Val1079Met)
c.3073G>A (p.Val1025Met)
c.622G>A (p.Val208Met)
c.3049G>A (p.Val1017Met)
c.3136G>A (p.Val1046Met)
c.3271G>A (p.Val1091Met)
c.3172G>A (p.Val1058Met)
c.3109G>A (p.Val1037Met)
c.2974G>A (p.Val992Met)
c.3052G>A (p.Val1018Met)
c.2851G>A (p.Val951Met)
c.2950G>A (p.Val984Met)
c.3280G>A (p.Val1094Met)
c.3085G>A (p.Val1029Met)
c.3058G>A (p.Val1020Met)
c.3037G>A (p.Val1013Met)
c.3010G>A (p.Val1004Met)
c.3208G>A (p.Val1070Met)
c.799G>A (p.Val267Met)
c.2653G>A (p.Val885Met)
c.763G>A (p.Val255Met)
c.3181G>A (p.Val1061Met)
c.3034G>A (p.Val1012Met)
c.2743G>A (p.Val915Met)
c.2893G>A (p.Val965Met)
n.83G>A
c.272G>A
c.3148G>A (p.Val1050Met)
c.3268G>A (p.Val1090Met)
c.3232G>A (p.Val1078Met)
c.3322G>A (p.Val1108Met)
c.3286G>A (p.Val1096Met)
c.3262G>A (p.Val1088Met)
c.3307G>A (p.Val1103Met)
c.3247G>A (p.Val1083Met)
c.3214G>A (p.Val1072Met)
c.3277G>A (p.Val1093Met)
c.3133G>A (p.Val1045Met)
c.3313G>A (p.Val1105Met)
c.3205G>A (p.Val1069Met)
c.3169G>A (p.Val1057Met)
c.3184G>A (p.Val1062Met)
c.3094G>A (p.Val1032Met)
c.3022G>A (p.Val1008Met)
c.3106G>A (p.Val1036Met)
c.2935G>A (p.Val979Met)
c.3352G>A (p.Val1118Met)
c.3238G>A (p.Val1080Met)
c.3220G>A (p.Val1074Met)
c.3292G>A (p.Val1098Met)
c.2752G>A (p.Val918Met)
c.3079G>A (p.Val1027Met)
c.3100G>A (p.Val1034Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.113333064G>CCA357935853ANK2c.3376G>C (p.Val1126Leu)
c.3316G>C (p.Val1106Leu)
n.1418G>C
n.872G>C
n.80G>C
n.6498G>C
n.4872G>C
n.851G>C
n.2248G>C
n.1615G>C
n.961G>C
n.1379G>C
n.1830G>C
c.3235G>C (p.Val1079Leu)
c.3073G>C (p.Val1025Leu)
c.622G>C (p.Val208Leu)
c.3049G>C (p.Val1017Leu)
c.3136G>C (p.Val1046Leu)
c.3271G>C (p.Val1091Leu)
c.3172G>C (p.Val1058Leu)
c.3109G>C (p.Val1037Leu)
c.2974G>C (p.Val992Leu)
c.3052G>C (p.Val1018Leu)
c.2851G>C (p.Val951Leu)
c.2950G>C (p.Val984Leu)
c.3280G>C (p.Val1094Leu)
c.3085G>C (p.Val1029Leu)
c.3058G>C (p.Val1020Leu)
c.3037G>C (p.Val1013Leu)
c.3010G>C (p.Val1004Leu)
c.3208G>C (p.Val1070Leu)
c.799G>C (p.Val267Leu)
c.2653G>C (p.Val885Leu)
c.763G>C (p.Val255Leu)
c.3181G>C (p.Val1061Leu)
c.3034G>C (p.Val1012Leu)
c.2743G>C (p.Val915Leu)
c.2893G>C (p.Val965Leu)
n.83G>C
c.272G>C
c.3148G>C (p.Val1050Leu)
c.3268G>C (p.Val1090Leu)
c.3232G>C (p.Val1078Leu)
c.3322G>C (p.Val1108Leu)
c.3286G>C (p.Val1096Leu)
c.3262G>C (p.Val1088Leu)
c.3307G>C (p.Val1103Leu)
c.3247G>C (p.Val1083Leu)
c.3214G>C (p.Val1072Leu)
c.3277G>C (p.Val1093Leu)
c.3133G>C (p.Val1045Leu)
c.3313G>C (p.Val1105Leu)
c.3205G>C (p.Val1069Leu)
c.3169G>C (p.Val1057Leu)
c.3184G>C (p.Val1062Leu)
c.3094G>C (p.Val1032Leu)
c.3022G>C (p.Val1008Leu)
c.3106G>C (p.Val1036Leu)
c.2935G>C (p.Val979Leu)
c.3352G>C (p.Val1118Leu)
c.3238G>C (p.Val1080Leu)
c.3220G>C (p.Val1074Leu)
c.3292G>C (p.Val1098Leu)
c.2752G>C (p.Val918Leu)
c.3079G>C (p.Val1027Leu)
c.3100G>C (p.Val1034Leu)
 dbSNP gnomAD v4
4g.113333064G>TCA3050812ANK2c.3376G>T (p.Val1126Leu)
c.3316G>T (p.Val1106Leu)
n.1418G>T
n.872G>T
n.80G>T
n.6498G>T
n.4872G>T
n.851G>T
n.2248G>T
n.1615G>T
n.961G>T
n.1379G>T
n.1830G>T
c.3235G>T (p.Val1079Leu)
c.3073G>T (p.Val1025Leu)
c.622G>T (p.Val208Leu)
c.3049G>T (p.Val1017Leu)
c.3136G>T (p.Val1046Leu)
c.3271G>T (p.Val1091Leu)
c.3172G>T (p.Val1058Leu)
c.3109G>T (p.Val1037Leu)
c.2974G>T (p.Val992Leu)
c.3052G>T (p.Val1018Leu)
c.2851G>T (p.Val951Leu)
c.2950G>T (p.Val984Leu)
c.3280G>T (p.Val1094Leu)
c.3085G>T (p.Val1029Leu)
c.3058G>T (p.Val1020Leu)
c.3037G>T (p.Val1013Leu)
c.3010G>T (p.Val1004Leu)
c.3208G>T (p.Val1070Leu)
c.799G>T (p.Val267Leu)
c.2653G>T (p.Val885Leu)
c.763G>T (p.Val255Leu)
c.3181G>T (p.Val1061Leu)
c.3034G>T (p.Val1012Leu)
c.2743G>T (p.Val915Leu)
c.2893G>T (p.Val965Leu)
n.83G>T
c.272G>T
c.3148G>T (p.Val1050Leu)
c.3268G>T (p.Val1090Leu)
c.3232G>T (p.Val1078Leu)
c.3322G>T (p.Val1108Leu)
c.3286G>T (p.Val1096Leu)
c.3262G>T (p.Val1088Leu)
c.3307G>T (p.Val1103Leu)
c.3247G>T (p.Val1083Leu)
c.3214G>T (p.Val1072Leu)
c.3277G>T (p.Val1093Leu)
c.3133G>T (p.Val1045Leu)
c.3313G>T (p.Val1105Leu)
c.3205G>T (p.Val1069Leu)
c.3169G>T (p.Val1057Leu)
c.3184G>T (p.Val1062Leu)
c.3094G>T (p.Val1032Leu)
c.3022G>T (p.Val1008Leu)
c.3106G>T (p.Val1036Leu)
c.2935G>T (p.Val979Leu)
c.3352G>T (p.Val1118Leu)
c.3238G>T (p.Val1080Leu)
c.3220G>T (p.Val1074Leu)
c.3292G>T (p.Val1098Leu)
c.2752G>T (p.Val918Leu)
c.3079G>T (p.Val1027Leu)
c.3100G>T (p.Val1034Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.113333065T>ACA357935858ANK2c.3377T>A (p.Val1126Glu)
c.3317T>A (p.Val1106Glu)
n.1419T>A
n.873T>A
n.81T>A
n.6499T>A
n.4873T>A
n.852T>A
n.2249T>A
n.1616T>A
n.962T>A
n.1380T>A
n.1831T>A
c.3236T>A (p.Val1079Glu)
c.3074T>A (p.Val1025Glu)
c.623T>A (p.Val208Glu)
c.3050T>A (p.Val1017Glu)
c.3137T>A (p.Val1046Glu)
c.3272T>A (p.Val1091Glu)
c.3173T>A (p.Val1058Glu)
c.3110T>A (p.Val1037Glu)
c.2975T>A (p.Val992Glu)
c.3053T>A (p.Val1018Glu)
c.2852T>A (p.Val951Glu)
c.2951T>A (p.Val984Glu)
c.3281T>A (p.Val1094Glu)
c.3086T>A (p.Val1029Glu)
c.3059T>A (p.Val1020Glu)
c.3038T>A (p.Val1013Glu)
c.3011T>A (p.Val1004Glu)
c.3209T>A (p.Val1070Glu)
c.800T>A (p.Val267Glu)
c.2654T>A (p.Val885Glu)
c.764T>A (p.Val255Glu)
c.3182T>A (p.Val1061Glu)
c.3035T>A (p.Val1012Glu)
c.2744T>A (p.Val915Glu)
c.2894T>A (p.Val965Glu)
n.84T>A
c.273T>A
c.3149T>A (p.Val1050Glu)
c.3269T>A (p.Val1090Glu)
c.3233T>A (p.Val1078Glu)
c.3323T>A (p.Val1108Glu)
c.3287T>A (p.Val1096Glu)
c.3263T>A (p.Val1088Glu)
c.3308T>A (p.Val1103Glu)
c.3248T>A (p.Val1083Glu)
c.3215T>A (p.Val1072Glu)
c.3278T>A (p.Val1093Glu)
c.3134T>A (p.Val1045Glu)
c.3314T>A (p.Val1105Glu)
c.3206T>A (p.Val1069Glu)
c.3170T>A (p.Val1057Glu)
c.3185T>A (p.Val1062Glu)
c.3095T>A (p.Val1032Glu)
c.3023T>A (p.Val1008Glu)
c.3107T>A (p.Val1036Glu)
c.2936T>A (p.Val979Glu)
c.3353T>A (p.Val1118Glu)
c.3239T>A (p.Val1080Glu)
c.3221T>A (p.Val1074Glu)
c.3293T>A (p.Val1098Glu)
c.2753T>A (p.Val918Glu)
c.3080T>A (p.Val1027Glu)
c.3101T>A (p.Val1034Glu)
4g.113333065T>CCA357935861ANK2c.3377T>C (p.Val1126Ala)
c.3317T>C (p.Val1106Ala)
n.1419T>C
n.873T>C
n.81T>C
n.6499T>C
n.4873T>C
n.852T>C
n.2249T>C
n.1616T>C
n.962T>C
n.1380T>C
n.1831T>C
c.3236T>C (p.Val1079Ala)
c.3074T>C (p.Val1025Ala)
c.623T>C (p.Val208Ala)
c.3050T>C (p.Val1017Ala)
c.3137T>C (p.Val1046Ala)
c.3272T>C (p.Val1091Ala)
c.3173T>C (p.Val1058Ala)
c.3110T>C (p.Val1037Ala)
c.2975T>C (p.Val992Ala)
c.3053T>C (p.Val1018Ala)
c.2852T>C (p.Val951Ala)
c.2951T>C (p.Val984Ala)
c.3281T>C (p.Val1094Ala)
c.3086T>C (p.Val1029Ala)
c.3059T>C (p.Val1020Ala)
c.3038T>C (p.Val1013Ala)
c.3011T>C (p.Val1004Ala)
c.3209T>C (p.Val1070Ala)
c.800T>C (p.Val267Ala)
c.2654T>C (p.Val885Ala)
c.764T>C (p.Val255Ala)
c.3182T>C (p.Val1061Ala)
c.3035T>C (p.Val1012Ala)
c.2744T>C (p.Val915Ala)
c.2894T>C (p.Val965Ala)
n.84T>C
c.273T>C
c.3149T>C (p.Val1050Ala)
c.3269T>C (p.Val1090Ala)
c.3233T>C (p.Val1078Ala)
c.3323T>C (p.Val1108Ala)
c.3287T>C (p.Val1096Ala)
c.3263T>C (p.Val1088Ala)
c.3308T>C (p.Val1103Ala)
c.3248T>C (p.Val1083Ala)
c.3215T>C (p.Val1072Ala)
c.3278T>C (p.Val1093Ala)
c.3134T>C (p.Val1045Ala)
c.3314T>C (p.Val1105Ala)
c.3206T>C (p.Val1069Ala)
c.3170T>C (p.Val1057Ala)
c.3185T>C (p.Val1062Ala)
c.3095T>C (p.Val1032Ala)
c.3023T>C (p.Val1008Ala)
c.3107T>C (p.Val1036Ala)
c.2936T>C (p.Val979Ala)
c.3353T>C (p.Val1118Ala)
c.3239T>C (p.Val1080Ala)
c.3221T>C (p.Val1074Ala)
c.3293T>C (p.Val1098Ala)
c.2753T>C (p.Val918Ala)
c.3080T>C (p.Val1027Ala)
c.3101T>C (p.Val1034Ala)
4g.113333065T>GCA357935857ANK2c.3377T>G (p.Val1126Gly)
c.3317T>G (p.Val1106Gly)
n.1419T>G
n.873T>G
n.81T>G
n.6499T>G
n.4873T>G
n.852T>G
n.2249T>G
n.1616T>G
n.962T>G
n.1380T>G
n.1831T>G
c.3236T>G (p.Val1079Gly)
c.3074T>G (p.Val1025Gly)
c.623T>G (p.Val208Gly)
c.3050T>G (p.Val1017Gly)
c.3137T>G (p.Val1046Gly)
c.3272T>G (p.Val1091Gly)
c.3173T>G (p.Val1058Gly)
c.3110T>G (p.Val1037Gly)
c.2975T>G (p.Val992Gly)
c.3053T>G (p.Val1018Gly)
c.2852T>G (p.Val951Gly)
c.2951T>G (p.Val984Gly)
c.3281T>G (p.Val1094Gly)
c.3086T>G (p.Val1029Gly)
c.3059T>G (p.Val1020Gly)
c.3038T>G (p.Val1013Gly)
c.3011T>G (p.Val1004Gly)
c.3209T>G (p.Val1070Gly)
c.800T>G (p.Val267Gly)
c.2654T>G (p.Val885Gly)
c.764T>G (p.Val255Gly)
c.3182T>G (p.Val1061Gly)
c.3035T>G (p.Val1012Gly)
c.2744T>G (p.Val915Gly)
c.2894T>G (p.Val965Gly)
n.84T>G
c.273T>G
c.3149T>G (p.Val1050Gly)
c.3269T>G (p.Val1090Gly)
c.3233T>G (p.Val1078Gly)
c.3323T>G (p.Val1108Gly)
c.3287T>G (p.Val1096Gly)
c.3263T>G (p.Val1088Gly)
c.3308T>G (p.Val1103Gly)
c.3248T>G (p.Val1083Gly)
c.3215T>G (p.Val1072Gly)
c.3278T>G (p.Val1093Gly)
c.3134T>G (p.Val1045Gly)
c.3314T>G (p.Val1105Gly)
c.3206T>G (p.Val1069Gly)
c.3170T>G (p.Val1057Gly)
c.3185T>G (p.Val1062Gly)
c.3095T>G (p.Val1032Gly)
c.3023T>G (p.Val1008Gly)
c.3107T>G (p.Val1036Gly)
c.2936T>G (p.Val979Gly)
c.3353T>G (p.Val1118Gly)
c.3239T>G (p.Val1080Gly)
c.3221T>G (p.Val1074Gly)
c.3293T>G (p.Val1098Gly)
c.2753T>G (p.Val918Gly)
c.3080T>G (p.Val1027Gly)
c.3101T>G (p.Val1034Gly)
4g.113333066G>ACA440842781ANK2c.3378G>A (p.Val1126=)
c.3318G>A (p.Val1106=)
n.1420G>A
n.874G>A
n.82G>A
n.6500G>A
n.4874G>A
n.853G>A
n.2250G>A
n.1617G>A
n.963G>A
n.1381G>A
n.1832G>A
c.3237G>A (p.Val1079=)
c.3075G>A (p.Val1025=)
c.624G>A (p.Val208=)
c.3051G>A (p.Val1017=)
c.3138G>A (p.Val1046=)
c.3273G>A (p.Val1091=)
c.3174G>A (p.Val1058=)
c.3111G>A (p.Val1037=)
c.2976G>A (p.Val992=)
c.3054G>A (p.Val1018=)
c.2853G>A (p.Val951=)
c.2952G>A (p.Val984=)
c.3282G>A (p.Val1094=)
c.3087G>A (p.Val1029=)
c.3060G>A (p.Val1020=)
c.3039G>A (p.Val1013=)
c.3012G>A (p.Val1004=)
c.3210G>A (p.Val1070=)
c.801G>A (p.Val267=)
c.2655G>A (p.Val885=)
c.765G>A (p.Val255=)
c.3183G>A (p.Val1061=)
c.3036G>A (p.Val1012=)
c.2745G>A (p.Val915=)
c.2895G>A (p.Val965=)
n.85G>A
c.274G>A
c.3150G>A (p.Val1050=)
c.3270G>A (p.Val1090=)
c.3234G>A (p.Val1078=)
c.3324G>A (p.Val1108=)
c.3288G>A (p.Val1096=)
c.3264G>A (p.Val1088=)
c.3309G>A (p.Val1103=)
c.3249G>A (p.Val1083=)
c.3216G>A (p.Val1072=)
c.3279G>A (p.Val1093=)
c.3135G>A (p.Val1045=)
c.3315G>A (p.Val1105=)
c.3207G>A (p.Val1069=)
c.3171G>A (p.Val1057=)
c.3186G>A (p.Val1062=)
c.3096G>A (p.Val1032=)
c.3024G>A (p.Val1008=)
c.3108G>A (p.Val1036=)
c.2937G>A (p.Val979=)
c.3354G>A (p.Val1118=)
c.3240G>A (p.Val1080=)
c.3222G>A (p.Val1074=)
c.3294G>A (p.Val1098=)
c.2754G>A (p.Val918=)
c.3081G>A (p.Val1027=)
c.3102G>A (p.Val1034=)
 dbSNP
4g.113333066G>CCA440842782ANK2c.3378G>C (p.Val1126=)
c.3318G>C (p.Val1106=)
n.1420G>C
n.874G>C
n.82G>C
n.6500G>C
n.4874G>C
n.853G>C
n.2250G>C
n.1617G>C
n.963G>C
n.1381G>C
n.1832G>C
c.3237G>C (p.Val1079=)
c.3075G>C (p.Val1025=)
c.624G>C (p.Val208=)
c.3051G>C (p.Val1017=)
c.3138G>C (p.Val1046=)
c.3273G>C (p.Val1091=)
c.3174G>C (p.Val1058=)
c.3111G>C (p.Val1037=)
c.2976G>C (p.Val992=)
c.3054G>C (p.Val1018=)
c.2853G>C (p.Val951=)
c.2952G>C (p.Val984=)
c.3282G>C (p.Val1094=)
c.3087G>C (p.Val1029=)
c.3060G>C (p.Val1020=)
c.3039G>C (p.Val1013=)
c.3012G>C (p.Val1004=)
c.3210G>C (p.Val1070=)
c.801G>C (p.Val267=)
c.2655G>C (p.Val885=)
c.765G>C (p.Val255=)
c.3183G>C (p.Val1061=)
c.3036G>C (p.Val1012=)
c.2745G>C (p.Val915=)
c.2895G>C (p.Val965=)
n.85G>C
c.274G>C
c.3150G>C (p.Val1050=)
c.3270G>C (p.Val1090=)
c.3234G>C (p.Val1078=)
c.3324G>C (p.Val1108=)
c.3288G>C (p.Val1096=)
c.3264G>C (p.Val1088=)
c.3309G>C (p.Val1103=)
c.3249G>C (p.Val1083=)
c.3216G>C (p.Val1072=)
c.3279G>C (p.Val1093=)
c.3135G>C (p.Val1045=)
c.3315G>C (p.Val1105=)
c.3207G>C (p.Val1069=)
c.3171G>C (p.Val1057=)
c.3186G>C (p.Val1062=)
c.3096G>C (p.Val1032=)
c.3024G>C (p.Val1008=)
c.3108G>C (p.Val1036=)
c.2937G>C (p.Val979=)
c.3354G>C (p.Val1118=)
c.3240G>C (p.Val1080=)
c.3222G>C (p.Val1074=)
c.3294G>C (p.Val1098=)
c.2754G>C (p.Val918=)
c.3081G>C (p.Val1027=)
c.3102G>C (p.Val1034=)
 dbSNP
4g.113333066G>TCA440842783ANK2c.3378G>T (p.Val1126=)
c.3318G>T (p.Val1106=)
n.1420G>T
n.874G>T
n.82G>T
n.6500G>T
n.4874G>T
n.853G>T
n.2250G>T
n.1617G>T
n.963G>T
n.1381G>T
n.1832G>T
c.3237G>T (p.Val1079=)
c.3075G>T (p.Val1025=)
c.624G>T (p.Val208=)
c.3051G>T (p.Val1017=)
c.3138G>T (p.Val1046=)
c.3273G>T (p.Val1091=)
c.3174G>T (p.Val1058=)
c.3111G>T (p.Val1037=)
c.2976G>T (p.Val992=)
c.3054G>T (p.Val1018=)
c.2853G>T (p.Val951=)
c.2952G>T (p.Val984=)
c.3282G>T (p.Val1094=)
c.3087G>T (p.Val1029=)
c.3060G>T (p.Val1020=)
c.3039G>T (p.Val1013=)
c.3012G>T (p.Val1004=)
c.3210G>T (p.Val1070=)
c.801G>T (p.Val267=)
c.2655G>T (p.Val885=)
c.765G>T (p.Val255=)
c.3183G>T (p.Val1061=)
c.3036G>T (p.Val1012=)
c.2745G>T (p.Val915=)
c.2895G>T (p.Val965=)
n.85G>T
c.274G>T
c.3150G>T (p.Val1050=)
c.3270G>T (p.Val1090=)
c.3234G>T (p.Val1078=)
c.3324G>T (p.Val1108=)
c.3288G>T (p.Val1096=)
c.3264G>T (p.Val1088=)
c.3309G>T (p.Val1103=)
c.3249G>T (p.Val1083=)
c.3216G>T (p.Val1072=)
c.3279G>T (p.Val1093=)
c.3135G>T (p.Val1045=)
c.3315G>T (p.Val1105=)
c.3207G>T (p.Val1069=)
c.3171G>T (p.Val1057=)
c.3186G>T (p.Val1062=)
c.3096G>T (p.Val1032=)
c.3024G>T (p.Val1008=)
c.3108G>T (p.Val1036=)
c.2937G>T (p.Val979=)
c.3354G>T (p.Val1118=)
c.3240G>T (p.Val1080=)
c.3222G>T (p.Val1074=)
c.3294G>T (p.Val1098=)
c.2754G>T (p.Val918=)
c.3081G>T (p.Val1027=)
c.3102G>T (p.Val1034=)
4g.113333067delCA2706871073ANK2c.3379del (p.Glu1127ArgfsTer?)
c.3319del (p.Glu1107ArgfsTer?)
n.1421del
n.875del
n.83del
n.6501del
n.4875del
n.854del
n.2251del
n.1618del
n.964del
n.1382del
n.1833del
c.3238del (p.Glu1080ArgfsTer?)
c.3076del (p.Glu1026ArgfsTer?)
c.625del (p.Glu209ArgfsTer?)
c.3052del (p.Glu1018ArgfsTer?)
c.3139del (p.Glu1047ArgfsTer?)
c.3274del (p.Glu1092ArgfsTer?)
c.3175del (p.Glu1059ArgfsTer?)
c.3112del (p.Glu1038ArgfsTer?)
c.2977del (p.Glu993ArgfsTer?)
c.3055del (p.Glu1019ArgfsTer?)
c.2854del (p.Glu952ArgfsTer?)
c.2953del (p.Glu985ArgfsTer?)
c.3283del (p.Glu1095ArgfsTer?)
c.3088del (p.Glu1030ArgfsTer?)
c.3061del (p.Glu1021ArgfsTer?)
c.3040del (p.Glu1014ArgfsTer?)
c.3013del (p.Glu1005ArgfsTer?)
c.3211del (p.Glu1071ArgfsTer?)
c.802del (p.Glu268ArgfsTer?)
c.2656del (p.Glu886ArgfsTer?)
c.766del (p.Glu256ArgfsTer?)
c.3184del (p.Glu1062ArgfsTer?)
c.3037del (p.Glu1013ArgfsTer?)
c.2746del (p.Glu916ArgfsTer?)
c.2896del (p.Glu966ArgfsTer?)
n.86del
c.275del
c.3151del (p.Glu1051ArgfsTer?)
c.3271del (p.Glu1091ArgfsTer?)
c.3235del (p.Glu1079ArgfsTer?)
c.3325del (p.Glu1109ArgfsTer?)
c.3289del (p.Glu1097ArgfsTer?)
c.3265del (p.Glu1089ArgfsTer?)
c.3310del (p.Glu1104ArgfsTer?)
c.3250del (p.Glu1084ArgfsTer?)
c.3217del (p.Glu1073ArgfsTer?)
c.3280del (p.Glu1094ArgfsTer?)
c.3136del (p.Glu1046ArgfsTer?)
c.3316del (p.Glu1106ArgfsTer?)
c.3208del (p.Glu1070ArgfsTer?)
c.3172del (p.Glu1058ArgfsTer?)
c.3187del (p.Glu1063ArgfsTer?)
c.3097del (p.Glu1033ArgfsTer?)
c.3025del (p.Glu1009ArgfsTer?)
c.3109del (p.Glu1037ArgfsTer?)
c.2938del (p.Glu980ArgfsTer?)
c.3355del (p.Glu1119ArgfsTer?)
c.3241del (p.Glu1081ArgfsTer?)
c.3223del (p.Glu1075ArgfsTer?)
c.3295del (p.Glu1099ArgfsTer?)
c.2755del (p.Glu919ArgfsTer?)
c.3082del (p.Glu1028ArgfsTer?)
c.3103del (p.Glu1035ArgfsTer?)
 dbSNP
4g.113333067G>ACA357935863ANK2c.3379G>A (p.Glu1127Lys)
c.3319G>A (p.Glu1107Lys)
n.1421G>A
n.875G>A
n.83G>A
n.6501G>A
n.4875G>A
n.854G>A
n.2251G>A
n.1618G>A
n.964G>A
n.1382G>A
n.1833G>A
c.3238G>A (p.Glu1080Lys)
c.3076G>A (p.Glu1026Lys)
c.625G>A (p.Glu209Lys)
c.3052G>A (p.Glu1018Lys)
c.3139G>A (p.Glu1047Lys)
c.3274G>A (p.Glu1092Lys)
c.3175G>A (p.Glu1059Lys)
c.3112G>A (p.Glu1038Lys)
c.2977G>A (p.Glu993Lys)
c.3055G>A (p.Glu1019Lys)
c.2854G>A (p.Glu952Lys)
c.2953G>A (p.Glu985Lys)
c.3283G>A (p.Glu1095Lys)
c.3088G>A (p.Glu1030Lys)
c.3061G>A (p.Glu1021Lys)
c.3040G>A (p.Glu1014Lys)
c.3013G>A (p.Glu1005Lys)
c.3211G>A (p.Glu1071Lys)
c.802G>A (p.Glu268Lys)
c.2656G>A (p.Glu886Lys)
c.766G>A (p.Glu256Lys)
c.3184G>A (p.Glu1062Lys)
c.3037G>A (p.Glu1013Lys)
c.2746G>A (p.Glu916Lys)
c.2896G>A (p.Glu966Lys)
n.86G>A
c.275G>A
c.3151G>A (p.Glu1051Lys)
c.3271G>A (p.Glu1091Lys)
c.3235G>A (p.Glu1079Lys)
c.3325G>A (p.Glu1109Lys)
c.3289G>A (p.Glu1097Lys)
c.3265G>A (p.Glu1089Lys)
c.3310G>A (p.Glu1104Lys)
c.3250G>A (p.Glu1084Lys)
c.3217G>A (p.Glu1073Lys)
c.3280G>A (p.Glu1094Lys)
c.3136G>A (p.Glu1046Lys)
c.3316G>A (p.Glu1106Lys)
c.3208G>A (p.Glu1070Lys)
c.3172G>A (p.Glu1058Lys)
c.3187G>A (p.Glu1063Lys)
c.3097G>A (p.Glu1033Lys)
c.3025G>A (p.Glu1009Lys)
c.3109G>A (p.Glu1037Lys)
c.2938G>A (p.Glu980Lys)
c.3355G>A (p.Glu1119Lys)
c.3241G>A (p.Glu1081Lys)
c.3223G>A (p.Glu1075Lys)
c.3295G>A (p.Glu1099Lys)
c.2755G>A (p.Glu919Lys)
c.3082G>A (p.Glu1028Lys)
c.3103G>A (p.Glu1035Lys)
 ClinVar dbSNP
4g.113333067G>CCA357935865ANK2c.3379G>C (p.Glu1127Gln)
c.3319G>C (p.Glu1107Gln)
n.1421G>C
n.875G>C
n.83G>C
n.6501G>C
n.4875G>C
n.854G>C
n.2251G>C
n.1618G>C
n.964G>C
n.1382G>C
n.1833G>C
c.3238G>C (p.Glu1080Gln)
c.3076G>C (p.Glu1026Gln)
c.625G>C (p.Glu209Gln)
c.3052G>C (p.Glu1018Gln)
c.3139G>C (p.Glu1047Gln)
c.3274G>C (p.Glu1092Gln)
c.3175G>C (p.Glu1059Gln)
c.3112G>C (p.Glu1038Gln)
c.2977G>C (p.Glu993Gln)
c.3055G>C (p.Glu1019Gln)
c.2854G>C (p.Glu952Gln)
c.2953G>C (p.Glu985Gln)
c.3283G>C (p.Glu1095Gln)
c.3088G>C (p.Glu1030Gln)
c.3061G>C (p.Glu1021Gln)
c.3040G>C (p.Glu1014Gln)
c.3013G>C (p.Glu1005Gln)
c.3211G>C (p.Glu1071Gln)
c.802G>C (p.Glu268Gln)
c.2656G>C (p.Glu886Gln)
c.766G>C (p.Glu256Gln)
c.3184G>C (p.Glu1062Gln)
c.3037G>C (p.Glu1013Gln)
c.2746G>C (p.Glu916Gln)
c.2896G>C (p.Glu966Gln)
n.86G>C
c.275G>C
c.3151G>C (p.Glu1051Gln)
c.3271G>C (p.Glu1091Gln)
c.3235G>C (p.Glu1079Gln)
c.3325G>C (p.Glu1109Gln)
c.3289G>C (p.Glu1097Gln)
c.3265G>C (p.Glu1089Gln)
c.3310G>C (p.Glu1104Gln)
c.3250G>C (p.Glu1084Gln)
c.3217G>C (p.Glu1073Gln)
c.3280G>C (p.Glu1094Gln)
c.3136G>C (p.Glu1046Gln)
c.3316G>C (p.Glu1106Gln)
c.3208G>C (p.Glu1070Gln)
c.3172G>C (p.Glu1058Gln)
c.3187G>C (p.Glu1063Gln)
c.3097G>C (p.Glu1033Gln)
c.3025G>C (p.Glu1009Gln)
c.3109G>C (p.Glu1037Gln)
c.2938G>C (p.Glu980Gln)
c.3355G>C (p.Glu1119Gln)
c.3241G>C (p.Glu1081Gln)
c.3223G>C (p.Glu1075Gln)
c.3295G>C (p.Glu1099Gln)
c.2755G>C (p.Glu919Gln)
c.3082G>C (p.Glu1028Gln)
c.3103G>C (p.Glu1035Gln)
 dbSNP
4g.113333067G>TCA357935867ANK2c.3379G>T (p.Glu1127Ter)
c.3319G>T (p.Glu1107Ter)
n.1421G>T
n.875G>T
n.83G>T
n.6501G>T
n.4875G>T
n.854G>T
n.2251G>T
n.1618G>T
n.964G>T
n.1382G>T
n.1833G>T
c.3238G>T (p.Glu1080Ter)
c.3076G>T (p.Glu1026Ter)
c.625G>T (p.Glu209Ter)
c.3052G>T (p.Glu1018Ter)
c.3139G>T (p.Glu1047Ter)
c.3274G>T (p.Glu1092Ter)
c.3175G>T (p.Glu1059Ter)
c.3112G>T (p.Glu1038Ter)
c.2977G>T (p.Glu993Ter)
c.3055G>T (p.Glu1019Ter)
c.2854G>T (p.Glu952Ter)
c.2953G>T (p.Glu985Ter)
c.3283G>T (p.Glu1095Ter)
c.3088G>T (p.Glu1030Ter)
c.3061G>T (p.Glu1021Ter)
c.3040G>T (p.Glu1014Ter)
c.3013G>T (p.Glu1005Ter)
c.3211G>T (p.Glu1071Ter)
c.802G>T (p.Glu268Ter)
c.2656G>T (p.Glu886Ter)
c.766G>T (p.Glu256Ter)
c.3184G>T (p.Glu1062Ter)
c.3037G>T (p.Glu1013Ter)
c.2746G>T (p.Glu916Ter)
c.2896G>T (p.Glu966Ter)
n.86G>T
c.275G>T
c.3151G>T (p.Glu1051Ter)
c.3271G>T (p.Glu1091Ter)
c.3235G>T (p.Glu1079Ter)
c.3325G>T (p.Glu1109Ter)
c.3289G>T (p.Glu1097Ter)
c.3265G>T (p.Glu1089Ter)
c.3310G>T (p.Glu1104Ter)
c.3250G>T (p.Glu1084Ter)
c.3217G>T (p.Glu1073Ter)
c.3280G>T (p.Glu1094Ter)
c.3136G>T (p.Glu1046Ter)
c.3316G>T (p.Glu1106Ter)
c.3208G>T (p.Glu1070Ter)
c.3172G>T (p.Glu1058Ter)
c.3187G>T (p.Glu1063Ter)
c.3097G>T (p.Glu1033Ter)
c.3025G>T (p.Glu1009Ter)
c.3109G>T (p.Glu1037Ter)
c.2938G>T (p.Glu980Ter)
c.3355G>T (p.Glu1119Ter)
c.3241G>T (p.Glu1081Ter)
c.3223G>T (p.Glu1075Ter)
c.3295G>T (p.Glu1099Ter)
c.2755G>T (p.Glu919Ter)
c.3082G>T (p.Glu1028Ter)
c.3103G>T (p.Glu1035Ter)
 dbSNP
4g.113333068A>CCA357935868ANK2c.3380A>C (p.Glu1127Ala)
c.3320A>C (p.Glu1107Ala)
n.1422A>C
n.876A>C
n.84A>C
n.6502A>C
n.4876A>C
n.855A>C
n.2252A>C
n.1619A>C
n.965A>C
n.1383A>C
n.1834A>C
c.3239A>C (p.Glu1080Ala)
c.3077A>C (p.Glu1026Ala)
c.626A>C (p.Glu209Ala)
c.3053A>C (p.Glu1018Ala)
c.3140A>C (p.Glu1047Ala)
c.3275A>C (p.Glu1092Ala)
c.3176A>C (p.Glu1059Ala)
c.3113A>C (p.Glu1038Ala)
c.2978A>C (p.Glu993Ala)
c.3056A>C (p.Glu1019Ala)
c.2855A>C (p.Glu952Ala)
c.2954A>C (p.Glu985Ala)
c.3284A>C (p.Glu1095Ala)
c.3089A>C (p.Glu1030Ala)
c.3062A>C (p.Glu1021Ala)
c.3041A>C (p.Glu1014Ala)
c.3014A>C (p.Glu1005Ala)
c.3212A>C (p.Glu1071Ala)
c.803A>C (p.Glu268Ala)
c.2657A>C (p.Glu886Ala)
c.767A>C (p.Glu256Ala)
c.3185A>C (p.Glu1062Ala)
c.3038A>C (p.Glu1013Ala)
c.2747A>C (p.Glu916Ala)
c.2897A>C (p.Glu966Ala)
n.87A>C
c.276A>C
c.3152A>C (p.Glu1051Ala)
c.3272A>C (p.Glu1091Ala)
c.3236A>C (p.Glu1079Ala)
c.3326A>C (p.Glu1109Ala)
c.3290A>C (p.Glu1097Ala)
c.3266A>C (p.Glu1089Ala)
c.3311A>C (p.Glu1104Ala)
c.3251A>C (p.Glu1084Ala)
c.3218A>C (p.Glu1073Ala)
c.3281A>C (p.Glu1094Ala)
c.3137A>C (p.Glu1046Ala)
c.3317A>C (p.Glu1106Ala)
c.3209A>C (p.Glu1070Ala)
c.3173A>C (p.Glu1058Ala)
c.3188A>C (p.Glu1063Ala)
c.3098A>C (p.Glu1033Ala)
c.3026A>C (p.Glu1009Ala)
c.3110A>C (p.Glu1037Ala)
c.2939A>C (p.Glu980Ala)
c.3356A>C (p.Glu1119Ala)
c.3242A>C (p.Glu1081Ala)
c.3224A>C (p.Glu1075Ala)
c.3296A>C (p.Glu1099Ala)
c.2756A>C (p.Glu919Ala)
c.3083A>C (p.Glu1028Ala)
c.3104A>C (p.Glu1035Ala)
4g.113333068A>GCA357935870ANK2c.3380A>G (p.Glu1127Gly)
c.3320A>G (p.Glu1107Gly)
n.1422A>G
n.876A>G
n.84A>G
n.6502A>G
n.4876A>G
n.855A>G
n.2252A>G
n.1619A>G
n.965A>G
n.1383A>G
n.1834A>G
c.3239A>G (p.Glu1080Gly)
c.3077A>G (p.Glu1026Gly)
c.626A>G (p.Glu209Gly)
c.3053A>G (p.Glu1018Gly)
c.3140A>G (p.Glu1047Gly)
c.3275A>G (p.Glu1092Gly)
c.3176A>G (p.Glu1059Gly)
c.3113A>G (p.Glu1038Gly)
c.2978A>G (p.Glu993Gly)
c.3056A>G (p.Glu1019Gly)
c.2855A>G (p.Glu952Gly)
c.2954A>G (p.Glu985Gly)
c.3284A>G (p.Glu1095Gly)
c.3089A>G (p.Glu1030Gly)
c.3062A>G (p.Glu1021Gly)
c.3041A>G (p.Glu1014Gly)
c.3014A>G (p.Glu1005Gly)
c.3212A>G (p.Glu1071Gly)
c.803A>G (p.Glu268Gly)
c.2657A>G (p.Glu886Gly)
c.767A>G (p.Glu256Gly)
c.3185A>G (p.Glu1062Gly)
c.3038A>G (p.Glu1013Gly)
c.2747A>G (p.Glu916Gly)
c.2897A>G (p.Glu966Gly)
n.87A>G
c.276A>G
c.3152A>G (p.Glu1051Gly)
c.3272A>G (p.Glu1091Gly)
c.3236A>G (p.Glu1079Gly)
c.3326A>G (p.Glu1109Gly)
c.3290A>G (p.Glu1097Gly)
c.3266A>G (p.Glu1089Gly)
c.3311A>G (p.Glu1104Gly)
c.3251A>G (p.Glu1084Gly)
c.3218A>G (p.Glu1073Gly)
c.3281A>G (p.Glu1094Gly)
c.3137A>G (p.Glu1046Gly)
c.3317A>G (p.Glu1106Gly)
c.3209A>G (p.Glu1070Gly)
c.3173A>G (p.Glu1058Gly)
c.3188A>G (p.Glu1063Gly)
c.3098A>G (p.Glu1033Gly)
c.3026A>G (p.Glu1009Gly)
c.3110A>G (p.Glu1037Gly)
c.2939A>G (p.Glu980Gly)
c.3356A>G (p.Glu1119Gly)
c.3242A>G (p.Glu1081Gly)
c.3224A>G (p.Glu1075Gly)
c.3296A>G (p.Glu1099Gly)
c.2756A>G (p.Glu919Gly)
c.3083A>G (p.Glu1028Gly)
c.3104A>G (p.Glu1035Gly)
 dbSNP
4g.113333068A>TCA357935872ANK2c.3380A>T (p.Glu1127Val)
c.3320A>T (p.Glu1107Val)
n.1422A>T
n.876A>T
n.84A>T
n.6502A>T
n.4876A>T
n.855A>T
n.2252A>T
n.1619A>T
n.965A>T
n.1383A>T
n.1834A>T
c.3239A>T (p.Glu1080Val)
c.3077A>T (p.Glu1026Val)
c.626A>T (p.Glu209Val)
c.3053A>T (p.Glu1018Val)
c.3140A>T (p.Glu1047Val)
c.3275A>T (p.Glu1092Val)
c.3176A>T (p.Glu1059Val)
c.3113A>T (p.Glu1038Val)
c.2978A>T (p.Glu993Val)
c.3056A>T (p.Glu1019Val)
c.2855A>T (p.Glu952Val)
c.2954A>T (p.Glu985Val)
c.3284A>T (p.Glu1095Val)
c.3089A>T (p.Glu1030Val)
c.3062A>T (p.Glu1021Val)
c.3041A>T (p.Glu1014Val)
c.3014A>T (p.Glu1005Val)
c.3212A>T (p.Glu1071Val)
c.803A>T (p.Glu268Val)
c.2657A>T (p.Glu886Val)
c.767A>T (p.Glu256Val)
c.3185A>T (p.Glu1062Val)
c.3038A>T (p.Glu1013Val)
c.2747A>T (p.Glu916Val)
c.2897A>T (p.Glu966Val)
n.87A>T
c.276A>T
c.3152A>T (p.Glu1051Val)
c.3272A>T (p.Glu1091Val)
c.3236A>T (p.Glu1079Val)
c.3326A>T (p.Glu1109Val)
c.3290A>T (p.Glu1097Val)
c.3266A>T (p.Glu1089Val)
c.3311A>T (p.Glu1104Val)
c.3251A>T (p.Glu1084Val)
c.3218A>T (p.Glu1073Val)
c.3281A>T (p.Glu1094Val)
c.3137A>T (p.Glu1046Val)
c.3317A>T (p.Glu1106Val)
c.3209A>T (p.Glu1070Val)
c.3173A>T (p.Glu1058Val)
c.3188A>T (p.Glu1063Val)
c.3098A>T (p.Glu1033Val)
c.3026A>T (p.Glu1009Val)
c.3110A>T (p.Glu1037Val)
c.2939A>T (p.Glu980Val)
c.3356A>T (p.Glu1119Val)
c.3242A>T (p.Glu1081Val)
c.3224A>T (p.Glu1075Val)
c.3296A>T (p.Glu1099Val)
c.2756A>T (p.Glu919Val)
c.3083A>T (p.Glu1028Val)
c.3104A>T (p.Glu1035Val)
 dbSNP
4g.113333069G>ACA440842787ANK2c.3381G>A (p.Glu1127=)
c.3321G>A (p.Glu1107=)
n.1423G>A
n.877G>A
n.85G>A
n.6503G>A
n.4877G>A
n.856G>A
n.2253G>A
n.1620G>A
n.966G>A
n.1384G>A
n.1835G>A
c.3240G>A (p.Glu1080=)
c.3078G>A (p.Glu1026=)
c.627G>A (p.Glu209=)
c.3054G>A (p.Glu1018=)
c.3141G>A (p.Glu1047=)
c.3276G>A (p.Glu1092=)
c.3177G>A (p.Glu1059=)
c.3114G>A (p.Glu1038=)
c.2979G>A (p.Glu993=)
c.3057G>A (p.Glu1019=)
c.2856G>A (p.Glu952=)
c.2955G>A (p.Glu985=)
c.3285G>A (p.Glu1095=)
c.3090G>A (p.Glu1030=)
c.3063G>A (p.Glu1021=)
c.3042G>A (p.Glu1014=)
c.3015G>A (p.Glu1005=)
c.3213G>A (p.Glu1071=)
c.804G>A (p.Glu268=)
c.2658G>A (p.Glu886=)
c.768G>A (p.Glu256=)
c.3186G>A (p.Glu1062=)
c.3039G>A (p.Glu1013=)
c.2748G>A (p.Glu916=)
c.2898G>A (p.Glu966=)
n.88G>A
c.277G>A
c.3153G>A (p.Glu1051=)
c.3273G>A (p.Glu1091=)
c.3237G>A (p.Glu1079=)
c.3327G>A (p.Glu1109=)
c.3291G>A (p.Glu1097=)
c.3267G>A (p.Glu1089=)
c.3312G>A (p.Glu1104=)
c.3252G>A (p.Glu1084=)
c.3219G>A (p.Glu1073=)
c.3282G>A (p.Glu1094=)
c.3138G>A (p.Glu1046=)
c.3318G>A (p.Glu1106=)
c.3210G>A (p.Glu1070=)
c.3174G>A (p.Glu1058=)
c.3189G>A (p.Glu1063=)
c.3099G>A (p.Glu1033=)
c.3027G>A (p.Glu1009=)
c.3111G>A (p.Glu1037=)
c.2940G>A (p.Glu980=)
c.3357G>A (p.Glu1119=)
c.3243G>A (p.Glu1081=)
c.3225G>A (p.Glu1075=)
c.3297G>A (p.Glu1099=)
c.2757G>A (p.Glu919=)
c.3084G>A (p.Glu1028=)
c.3105G>A (p.Glu1035=)
 dbSNP gnomAD v2 gnomAD v4
4g.113333069G>CCA357935873ANK2c.3381G>C (p.Glu1127Asp)
c.3321G>C (p.Glu1107Asp)
n.1423G>C
n.877G>C
n.85G>C
n.6503G>C
n.4877G>C
n.856G>C
n.2253G>C
n.1620G>C
n.966G>C
n.1384G>C
n.1835G>C
c.3240G>C (p.Glu1080Asp)
c.3078G>C (p.Glu1026Asp)
c.627G>C (p.Glu209Asp)
c.3054G>C (p.Glu1018Asp)
c.3141G>C (p.Glu1047Asp)
c.3276G>C (p.Glu1092Asp)
c.3177G>C (p.Glu1059Asp)
c.3114G>C (p.Glu1038Asp)
c.2979G>C (p.Glu993Asp)
c.3057G>C (p.Glu1019Asp)
c.2856G>C (p.Glu952Asp)
c.2955G>C (p.Glu985Asp)
c.3285G>C (p.Glu1095Asp)
c.3090G>C (p.Glu1030Asp)
c.3063G>C (p.Glu1021Asp)
c.3042G>C (p.Glu1014Asp)
c.3015G>C (p.Glu1005Asp)
c.3213G>C (p.Glu1071Asp)
c.804G>C (p.Glu268Asp)
c.2658G>C (p.Glu886Asp)
c.768G>C (p.Glu256Asp)
c.3186G>C (p.Glu1062Asp)
c.3039G>C (p.Glu1013Asp)
c.2748G>C (p.Glu916Asp)
c.2898G>C (p.Glu966Asp)
n.88G>C
c.277G>C
c.3153G>C (p.Glu1051Asp)
c.3273G>C (p.Glu1091Asp)
c.3237G>C (p.Glu1079Asp)
c.3327G>C (p.Glu1109Asp)
c.3291G>C (p.Glu1097Asp)
c.3267G>C (p.Glu1089Asp)
c.3312G>C (p.Glu1104Asp)
c.3252G>C (p.Glu1084Asp)
c.3219G>C (p.Glu1073Asp)
c.3282G>C (p.Glu1094Asp)
c.3138G>C (p.Glu1046Asp)
c.3318G>C (p.Glu1106Asp)
c.3210G>C (p.Glu1070Asp)
c.3174G>C (p.Glu1058Asp)
c.3189G>C (p.Glu1063Asp)
c.3099G>C (p.Glu1033Asp)
c.3027G>C (p.Glu1009Asp)
c.3111G>C (p.Glu1037Asp)
c.2940G>C (p.Glu980Asp)
c.3357G>C (p.Glu1119Asp)
c.3243G>C (p.Glu1081Asp)
c.3225G>C (p.Glu1075Asp)
c.3297G>C (p.Glu1099Asp)
c.2757G>C (p.Glu919Asp)
c.3084G>C (p.Glu1028Asp)
c.3105G>C (p.Glu1035Asp)
 dbSNP
4g.113333069G>TCA357935875ANK2c.3381G>T (p.Glu1127Asp)
c.3321G>T (p.Glu1107Asp)
n.1423G>T
n.877G>T
n.85G>T
n.6503G>T
n.4877G>T
n.856G>T
n.2253G>T
n.1620G>T
n.966G>T
n.1384G>T
n.1835G>T
c.3240G>T (p.Glu1080Asp)
c.3078G>T (p.Glu1026Asp)
c.627G>T (p.Glu209Asp)
c.3054G>T (p.Glu1018Asp)
c.3141G>T (p.Glu1047Asp)
c.3276G>T (p.Glu1092Asp)
c.3177G>T (p.Glu1059Asp)
c.3114G>T (p.Glu1038Asp)
c.2979G>T (p.Glu993Asp)
c.3057G>T (p.Glu1019Asp)
c.2856G>T (p.Glu952Asp)
c.2955G>T (p.Glu985Asp)
c.3285G>T (p.Glu1095Asp)
c.3090G>T (p.Glu1030Asp)
c.3063G>T (p.Glu1021Asp)
c.3042G>T (p.Glu1014Asp)
c.3015G>T (p.Glu1005Asp)
c.3213G>T (p.Glu1071Asp)
c.804G>T (p.Glu268Asp)
c.2658G>T (p.Glu886Asp)
c.768G>T (p.Glu256Asp)
c.3186G>T (p.Glu1062Asp)
c.3039G>T (p.Glu1013Asp)
c.2748G>T (p.Glu916Asp)
c.2898G>T (p.Glu966Asp)
n.88G>T
c.277G>T
c.3153G>T (p.Glu1051Asp)
c.3273G>T (p.Glu1091Asp)
c.3237G>T (p.Glu1079Asp)
c.3327G>T (p.Glu1109Asp)
c.3291G>T (p.Glu1097Asp)
c.3267G>T (p.Glu1089Asp)
c.3312G>T (p.Glu1104Asp)
c.3252G>T (p.Glu1084Asp)
c.3219G>T (p.Glu1073Asp)
c.3282G>T (p.Glu1094Asp)
c.3138G>T (p.Glu1046Asp)
c.3318G>T (p.Glu1106Asp)
c.3210G>T (p.Glu1070Asp)
c.3174G>T (p.Glu1058Asp)
c.3189G>T (p.Glu1063Asp)
c.3099G>T (p.Glu1033Asp)
c.3027G>T (p.Glu1009Asp)
c.3111G>T (p.Glu1037Asp)
c.2940G>T (p.Glu980Asp)
c.3357G>T (p.Glu1119Asp)
c.3243G>T (p.Glu1081Asp)
c.3225G>T (p.Glu1075Asp)
c.3297G>T (p.Glu1099Asp)
c.2757G>T (p.Glu919Asp)
c.3084G>T (p.Glu1028Asp)
c.3105G>T (p.Glu1035Asp)
4g.113333070A>CCA357935877ANK2c.3382A>C (p.Ile1128Leu)
c.3322A>C (p.Ile1108Leu)
n.1424A>C
n.878A>C
n.86A>C
n.6504A>C
n.4878A>C
n.857A>C
n.2254A>C
n.1621A>C
n.967A>C
n.1385A>C
n.1836A>C
c.3241A>C (p.Ile1081Leu)
c.3079A>C (p.Ile1027Leu)
c.628A>C (p.Ile210Leu)
c.3055A>C (p.Ile1019Leu)
c.3142A>C (p.Ile1048Leu)
c.3277A>C (p.Ile1093Leu)
c.3178A>C (p.Ile1060Leu)
c.3115A>C (p.Ile1039Leu)
c.2980A>C (p.Ile994Leu)
c.3058A>C (p.Ile1020Leu)
c.2857A>C (p.Ile953Leu)
c.2956A>C (p.Ile986Leu)
c.3286A>C (p.Ile1096Leu)
c.3091A>C (p.Ile1031Leu)
c.3064A>C (p.Ile1022Leu)
c.3043A>C (p.Ile1015Leu)
c.3016A>C (p.Ile1006Leu)
c.3214A>C (p.Ile1072Leu)
c.805A>C (p.Ile269Leu)
c.2659A>C (p.Ile887Leu)
c.769A>C (p.Ile257Leu)
c.3187A>C (p.Ile1063Leu)
c.3040A>C (p.Ile1014Leu)
c.2749A>C (p.Ile917Leu)
c.2899A>C (p.Ile967Leu)
n.89A>C
c.278A>C
c.3154A>C (p.Ile1052Leu)
c.3274A>C (p.Ile1092Leu)
c.3238A>C (p.Ile1080Leu)
c.3328A>C (p.Ile1110Leu)
c.3292A>C (p.Ile1098Leu)
c.3268A>C (p.Ile1090Leu)
c.3313A>C (p.Ile1105Leu)
c.3253A>C (p.Ile1085Leu)
c.3220A>C (p.Ile1074Leu)
c.3283A>C (p.Ile1095Leu)
c.3139A>C (p.Ile1047Leu)
c.3319A>C (p.Ile1107Leu)
c.3211A>C (p.Ile1071Leu)
c.3175A>C (p.Ile1059Leu)
c.3190A>C (p.Ile1064Leu)
c.3100A>C (p.Ile1034Leu)
c.3028A>C (p.Ile1010Leu)
c.3112A>C (p.Ile1038Leu)
c.2941A>C (p.Ile981Leu)
c.3358A>C (p.Ile1120Leu)
c.3244A>C (p.Ile1082Leu)
c.3226A>C (p.Ile1076Leu)
c.3298A>C (p.Ile1100Leu)
c.2758A>C (p.Ile920Leu)
c.3085A>C (p.Ile1029Leu)
c.3106A>C (p.Ile1036Leu)
 dbSNP
4g.113333070A>GCA357935879ANK2c.3382A>G (p.Ile1128Val)
c.3322A>G (p.Ile1108Val)
n.1424A>G
n.878A>G
n.86A>G
n.6504A>G
n.4878A>G
n.857A>G
n.2254A>G
n.1621A>G
n.967A>G
n.1385A>G
n.1836A>G
c.3241A>G (p.Ile1081Val)
c.3079A>G (p.Ile1027Val)
c.628A>G (p.Ile210Val)
c.3055A>G (p.Ile1019Val)
c.3142A>G (p.Ile1048Val)
c.3277A>G (p.Ile1093Val)
c.3178A>G (p.Ile1060Val)
c.3115A>G (p.Ile1039Val)
c.2980A>G (p.Ile994Val)
c.3058A>G (p.Ile1020Val)
c.2857A>G (p.Ile953Val)
c.2956A>G (p.Ile986Val)
c.3286A>G (p.Ile1096Val)
c.3091A>G (p.Ile1031Val)
c.3064A>G (p.Ile1022Val)
c.3043A>G (p.Ile1015Val)
c.3016A>G (p.Ile1006Val)
c.3214A>G (p.Ile1072Val)
c.805A>G (p.Ile269Val)
c.2659A>G (p.Ile887Val)
c.769A>G (p.Ile257Val)
c.3187A>G (p.Ile1063Val)
c.3040A>G (p.Ile1014Val)
c.2749A>G (p.Ile917Val)
c.2899A>G (p.Ile967Val)
n.89A>G
c.278A>G
c.3154A>G (p.Ile1052Val)
c.3274A>G (p.Ile1092Val)
c.3238A>G (p.Ile1080Val)
c.3328A>G (p.Ile1110Val)
c.3292A>G (p.Ile1098Val)
c.3268A>G (p.Ile1090Val)
c.3313A>G (p.Ile1105Val)
c.3253A>G (p.Ile1085Val)
c.3220A>G (p.Ile1074Val)
c.3283A>G (p.Ile1095Val)
c.3139A>G (p.Ile1047Val)
c.3319A>G (p.Ile1107Val)
c.3211A>G (p.Ile1071Val)
c.3175A>G (p.Ile1059Val)
c.3190A>G (p.Ile1064Val)
c.3100A>G (p.Ile1034Val)
c.3028A>G (p.Ile1010Val)
c.3112A>G (p.Ile1038Val)
c.2941A>G (p.Ile981Val)
c.3358A>G (p.Ile1120Val)
c.3244A>G (p.Ile1082Val)
c.3226A>G (p.Ile1076Val)
c.3298A>G (p.Ile1100Val)
c.2758A>G (p.Ile920Val)
c.3085A>G (p.Ile1029Val)
c.3106A>G (p.Ile1036Val)
 dbSNP
4g.113333070A>TCA357935881ANK2c.3382A>T (p.Ile1128Phe)
c.3322A>T (p.Ile1108Phe)
n.1424A>T
n.878A>T
n.86A>T
n.6504A>T
n.4878A>T
n.857A>T
n.2254A>T
n.1621A>T
n.967A>T
n.1385A>T
n.1836A>T
c.3241A>T (p.Ile1081Phe)
c.3079A>T (p.Ile1027Phe)
c.628A>T (p.Ile210Phe)
c.3055A>T (p.Ile1019Phe)
c.3142A>T (p.Ile1048Phe)
c.3277A>T (p.Ile1093Phe)
c.3178A>T (p.Ile1060Phe)
c.3115A>T (p.Ile1039Phe)
c.2980A>T (p.Ile994Phe)
c.3058A>T (p.Ile1020Phe)
c.2857A>T (p.Ile953Phe)
c.2956A>T (p.Ile986Phe)
c.3286A>T (p.Ile1096Phe)
c.3091A>T (p.Ile1031Phe)
c.3064A>T (p.Ile1022Phe)
c.3043A>T (p.Ile1015Phe)
c.3016A>T (p.Ile1006Phe)
c.3214A>T (p.Ile1072Phe)
c.805A>T (p.Ile269Phe)
c.2659A>T (p.Ile887Phe)
c.769A>T (p.Ile257Phe)
c.3187A>T (p.Ile1063Phe)
c.3040A>T (p.Ile1014Phe)
c.2749A>T (p.Ile917Phe)
c.2899A>T (p.Ile967Phe)
n.89A>T
c.278A>T
c.3154A>T (p.Ile1052Phe)
c.3274A>T (p.Ile1092Phe)
c.3238A>T (p.Ile1080Phe)
c.3328A>T (p.Ile1110Phe)
c.3292A>T (p.Ile1098Phe)
c.3268A>T (p.Ile1090Phe)
c.3313A>T (p.Ile1105Phe)
c.3253A>T (p.Ile1085Phe)
c.3220A>T (p.Ile1074Phe)
c.3283A>T (p.Ile1095Phe)
c.3139A>T (p.Ile1047Phe)
c.3319A>T (p.Ile1107Phe)
c.3211A>T (p.Ile1071Phe)
c.3175A>T (p.Ile1059Phe)
c.3190A>T (p.Ile1064Phe)
c.3100A>T (p.Ile1034Phe)
c.3028A>T (p.Ile1010Phe)
c.3112A>T (p.Ile1038Phe)
c.2941A>T (p.Ile981Phe)
c.3358A>T (p.Ile1120Phe)
c.3244A>T (p.Ile1082Phe)
c.3226A>T (p.Ile1076Phe)
c.3298A>T (p.Ile1100Phe)
c.2758A>T (p.Ile920Phe)
c.3085A>T (p.Ile1029Phe)
c.3106A>T (p.Ile1036Phe)
 dbSNP
4g.113333071T>ACA357935883ANK2c.3383T>A (p.Ile1128Asn)
c.3323T>A (p.Ile1108Asn)
n.1425T>A
n.879T>A
n.87T>A
n.6505T>A
n.4879T>A
n.858T>A
n.2255T>A
n.1622T>A
n.968T>A
n.1386T>A
n.1837T>A
c.3242T>A (p.Ile1081Asn)
c.3080T>A (p.Ile1027Asn)
c.629T>A (p.Ile210Asn)
c.3056T>A (p.Ile1019Asn)
c.3143T>A (p.Ile1048Asn)
c.3278T>A (p.Ile1093Asn)
c.3179T>A (p.Ile1060Asn)
c.3116T>A (p.Ile1039Asn)
c.2981T>A (p.Ile994Asn)
c.3059T>A (p.Ile1020Asn)
c.2858T>A (p.Ile953Asn)
c.2957T>A (p.Ile986Asn)
c.3287T>A (p.Ile1096Asn)
c.3092T>A (p.Ile1031Asn)
c.3065T>A (p.Ile1022Asn)
c.3044T>A (p.Ile1015Asn)
c.3017T>A (p.Ile1006Asn)
c.3215T>A (p.Ile1072Asn)
c.806T>A (p.Ile269Asn)
c.2660T>A (p.Ile887Asn)
c.770T>A (p.Ile257Asn)
c.3188T>A (p.Ile1063Asn)
c.3041T>A (p.Ile1014Asn)
c.2750T>A (p.Ile917Asn)
c.2900T>A (p.Ile967Asn)
n.90T>A
c.279T>A
c.3155T>A (p.Ile1052Asn)
c.3275T>A (p.Ile1092Asn)
c.3239T>A (p.Ile1080Asn)
c.3329T>A (p.Ile1110Asn)
c.3293T>A (p.Ile1098Asn)
c.3269T>A (p.Ile1090Asn)
c.3314T>A (p.Ile1105Asn)
c.3254T>A (p.Ile1085Asn)
c.3221T>A (p.Ile1074Asn)
c.3284T>A (p.Ile1095Asn)
c.3140T>A (p.Ile1047Asn)
c.3320T>A (p.Ile1107Asn)
c.3212T>A (p.Ile1071Asn)
c.3176T>A (p.Ile1059Asn)
c.3191T>A (p.Ile1064Asn)
c.3101T>A (p.Ile1034Asn)
c.3029T>A (p.Ile1010Asn)
c.3113T>A (p.Ile1038Asn)
c.2942T>A (p.Ile981Asn)
c.3359T>A (p.Ile1120Asn)
c.3245T>A (p.Ile1082Asn)
c.3227T>A (p.Ile1076Asn)
c.3299T>A (p.Ile1100Asn)
c.2759T>A (p.Ile920Asn)
c.3086T>A (p.Ile1029Asn)
c.3107T>A (p.Ile1036Asn)
 dbSNP gnomAD v4
4g.113333071T>CCA357935884ANK2c.3383T>C (p.Ile1128Thr)
c.3323T>C (p.Ile1108Thr)
n.1425T>C
n.879T>C
n.87T>C
n.6505T>C
n.4879T>C
n.858T>C
n.2255T>C
n.1622T>C
n.968T>C
n.1386T>C
n.1837T>C
c.3242T>C (p.Ile1081Thr)
c.3080T>C (p.Ile1027Thr)
c.629T>C (p.Ile210Thr)
c.3056T>C (p.Ile1019Thr)
c.3143T>C (p.Ile1048Thr)
c.3278T>C (p.Ile1093Thr)
c.3179T>C (p.Ile1060Thr)
c.3116T>C (p.Ile1039Thr)
c.2981T>C (p.Ile994Thr)
c.3059T>C (p.Ile1020Thr)
c.2858T>C (p.Ile953Thr)
c.2957T>C (p.Ile986Thr)
c.3287T>C (p.Ile1096Thr)
c.3092T>C (p.Ile1031Thr)
c.3065T>C (p.Ile1022Thr)
c.3044T>C (p.Ile1015Thr)
c.3017T>C (p.Ile1006Thr)
c.3215T>C (p.Ile1072Thr)
c.806T>C (p.Ile269Thr)
c.2660T>C (p.Ile887Thr)
c.770T>C (p.Ile257Thr)
c.3188T>C (p.Ile1063Thr)
c.3041T>C (p.Ile1014Thr)
c.2750T>C (p.Ile917Thr)
c.2900T>C (p.Ile967Thr)
n.90T>C
c.279T>C
c.3155T>C (p.Ile1052Thr)
c.3275T>C (p.Ile1092Thr)
c.3239T>C (p.Ile1080Thr)
c.3329T>C (p.Ile1110Thr)
c.3293T>C (p.Ile1098Thr)
c.3269T>C (p.Ile1090Thr)
c.3314T>C (p.Ile1105Thr)
c.3254T>C (p.Ile1085Thr)
c.3221T>C (p.Ile1074Thr)
c.3284T>C (p.Ile1095Thr)
c.3140T>C (p.Ile1047Thr)
c.3320T>C (p.Ile1107Thr)
c.3212T>C (p.Ile1071Thr)
c.3176T>C (p.Ile1059Thr)
c.3191T>C (p.Ile1064Thr)
c.3101T>C (p.Ile1034Thr)
c.3029T>C (p.Ile1010Thr)
c.3113T>C (p.Ile1038Thr)
c.2942T>C (p.Ile981Thr)
c.3359T>C (p.Ile1120Thr)
c.3245T>C (p.Ile1082Thr)
c.3227T>C (p.Ile1076Thr)
c.3299T>C (p.Ile1100Thr)
c.2759T>C (p.Ile920Thr)
c.3086T>C (p.Ile1029Thr)
c.3107T>C (p.Ile1036Thr)
4g.113333071T>GCA357935886ANK2c.3383T>G (p.Ile1128Ser)
c.3323T>G (p.Ile1108Ser)
n.1425T>G
n.879T>G
n.87T>G
n.6505T>G
n.4879T>G
n.858T>G
n.2255T>G
n.1622T>G
n.968T>G
n.1386T>G
n.1837T>G
c.3242T>G (p.Ile1081Ser)
c.3080T>G (p.Ile1027Ser)
c.629T>G (p.Ile210Ser)
c.3056T>G (p.Ile1019Ser)
c.3143T>G (p.Ile1048Ser)
c.3278T>G (p.Ile1093Ser)
c.3179T>G (p.Ile1060Ser)
c.3116T>G (p.Ile1039Ser)
c.2981T>G (p.Ile994Ser)
c.3059T>G (p.Ile1020Ser)
c.2858T>G (p.Ile953Ser)
c.2957T>G (p.Ile986Ser)
c.3287T>G (p.Ile1096Ser)
c.3092T>G (p.Ile1031Ser)
c.3065T>G (p.Ile1022Ser)
c.3044T>G (p.Ile1015Ser)
c.3017T>G (p.Ile1006Ser)
c.3215T>G (p.Ile1072Ser)
c.806T>G (p.Ile269Ser)
c.2660T>G (p.Ile887Ser)
c.770T>G (p.Ile257Ser)
c.3188T>G (p.Ile1063Ser)
c.3041T>G (p.Ile1014Ser)
c.2750T>G (p.Ile917Ser)
c.2900T>G (p.Ile967Ser)
n.90T>G
c.279T>G
c.3155T>G (p.Ile1052Ser)
c.3275T>G (p.Ile1092Ser)
c.3239T>G (p.Ile1080Ser)
c.3329T>G (p.Ile1110Ser)
c.3293T>G (p.Ile1098Ser)
c.3269T>G (p.Ile1090Ser)
c.3314T>G (p.Ile1105Ser)
c.3254T>G (p.Ile1085Ser)
c.3221T>G (p.Ile1074Ser)
c.3284T>G (p.Ile1095Ser)
c.3140T>G (p.Ile1047Ser)
c.3320T>G (p.Ile1107Ser)
c.3212T>G (p.Ile1071Ser)
c.3176T>G (p.Ile1059Ser)
c.3191T>G (p.Ile1064Ser)
c.3101T>G (p.Ile1034Ser)
c.3029T>G (p.Ile1010Ser)
c.3113T>G (p.Ile1038Ser)
c.2942T>G (p.Ile981Ser)
c.3359T>G (p.Ile1120Ser)
c.3245T>G (p.Ile1082Ser)
c.3227T>G (p.Ile1076Ser)
c.3299T>G (p.Ile1100Ser)
c.2759T>G (p.Ile920Ser)
c.3086T>G (p.Ile1029Ser)
c.3107T>G (p.Ile1036Ser)
 dbSNP
4g.113333072C>ACA440842792ANK2c.3384C>A (p.Ile1128=)
c.3324C>A (p.Ile1108=)
n.1426C>A
n.880C>A
n.88C>A
n.6506C>A
n.4880C>A
n.859C>A
n.2256C>A
n.1623C>A
n.969C>A
n.1387C>A
n.1838C>A
c.3243C>A (p.Ile1081=)
c.3081C>A (p.Ile1027=)
c.630C>A (p.Ile210=)
c.3057C>A (p.Ile1019=)
c.3144C>A (p.Ile1048=)
c.3279C>A (p.Ile1093=)
c.3180C>A (p.Ile1060=)
c.3117C>A (p.Ile1039=)
c.2982C>A (p.Ile994=)
c.3060C>A (p.Ile1020=)
c.2859C>A (p.Ile953=)
c.2958C>A (p.Ile986=)
c.3288C>A (p.Ile1096=)
c.3093C>A (p.Ile1031=)
c.3066C>A (p.Ile1022=)
c.3045C>A (p.Ile1015=)
c.3018C>A (p.Ile1006=)
c.3216C>A (p.Ile1072=)
c.807C>A (p.Ile269=)
c.2661C>A (p.Ile887=)
c.771C>A (p.Ile257=)
c.3189C>A (p.Ile1063=)
c.3042C>A (p.Ile1014=)
c.2751C>A (p.Ile917=)
c.2901C>A (p.Ile967=)
n.91C>A
c.280C>A
c.3156C>A (p.Ile1052=)
c.3276C>A (p.Ile1092=)
c.3240C>A (p.Ile1080=)
c.3330C>A (p.Ile1110=)
c.3294C>A (p.Ile1098=)
c.3270C>A (p.Ile1090=)
c.3315C>A (p.Ile1105=)
c.3255C>A (p.Ile1085=)
c.3222C>A (p.Ile1074=)
c.3285C>A (p.Ile1095=)
c.3141C>A (p.Ile1047=)
c.3321C>A (p.Ile1107=)
c.3213C>A (p.Ile1071=)
c.3177C>A (p.Ile1059=)
c.3192C>A (p.Ile1064=)
c.3102C>A (p.Ile1034=)
c.3030C>A (p.Ile1010=)
c.3114C>A (p.Ile1038=)
c.2943C>A (p.Ile981=)
c.3360C>A (p.Ile1120=)
c.3246C>A (p.Ile1082=)
c.3228C>A (p.Ile1076=)
c.3300C>A (p.Ile1100=)
c.2760C>A (p.Ile920=)
c.3087C>A (p.Ile1029=)
c.3108C>A (p.Ile1036=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
4g.113333072C>GCA357935888ANK2c.3384C>G (p.Ile1128Met)
c.3324C>G (p.Ile1108Met)
n.1426C>G
n.880C>G
n.88C>G
n.6506C>G
n.4880C>G
n.859C>G
n.2256C>G
n.1623C>G
n.969C>G
n.1387C>G
n.1838C>G
c.3243C>G (p.Ile1081Met)
c.3081C>G (p.Ile1027Met)
c.630C>G (p.Ile210Met)
c.3057C>G (p.Ile1019Met)
c.3144C>G (p.Ile1048Met)
c.3279C>G (p.Ile1093Met)
c.3180C>G (p.Ile1060Met)
c.3117C>G (p.Ile1039Met)
c.2982C>G (p.Ile994Met)
c.3060C>G (p.Ile1020Met)
c.2859C>G (p.Ile953Met)
c.2958C>G (p.Ile986Met)
c.3288C>G (p.Ile1096Met)
c.3093C>G (p.Ile1031Met)
c.3066C>G (p.Ile1022Met)
c.3045C>G (p.Ile1015Met)
c.3018C>G (p.Ile1006Met)
c.3216C>G (p.Ile1072Met)
c.807C>G (p.Ile269Met)
c.2661C>G (p.Ile887Met)
c.771C>G (p.Ile257Met)
c.3189C>G (p.Ile1063Met)
c.3042C>G (p.Ile1014Met)
c.2751C>G (p.Ile917Met)
c.2901C>G (p.Ile967Met)
n.91C>G
c.280C>G
c.3156C>G (p.Ile1052Met)
c.3276C>G (p.Ile1092Met)
c.3240C>G (p.Ile1080Met)
c.3330C>G (p.Ile1110Met)
c.3294C>G (p.Ile1098Met)
c.3270C>G (p.Ile1090Met)
c.3315C>G (p.Ile1105Met)
c.3255C>G (p.Ile1085Met)
c.3222C>G (p.Ile1074Met)
c.3285C>G (p.Ile1095Met)
c.3141C>G (p.Ile1047Met)
c.3321C>G (p.Ile1107Met)
c.3213C>G (p.Ile1071Met)
c.3177C>G (p.Ile1059Met)
c.3192C>G (p.Ile1064Met)
c.3102C>G (p.Ile1034Met)
c.3030C>G (p.Ile1010Met)
c.3114C>G (p.Ile1038Met)
c.2943C>G (p.Ile981Met)
c.3360C>G (p.Ile1120Met)
c.3246C>G (p.Ile1082Met)
c.3228C>G (p.Ile1076Met)
c.3300C>G (p.Ile1100Met)
c.2760C>G (p.Ile920Met)
c.3087C>G (p.Ile1029Met)
c.3108C>G (p.Ile1036Met)
 dbSNP
4g.113333072C>TCA440842791ANK2c.3384C>T (p.Ile1128=)
c.3324C>T (p.Ile1108=)
n.1426C>T
n.880C>T
n.88C>T
n.6506C>T
n.4880C>T
n.859C>T
n.2256C>T
n.1623C>T
n.969C>T
n.1387C>T
n.1838C>T
c.3243C>T (p.Ile1081=)
c.3081C>T (p.Ile1027=)
c.630C>T (p.Ile210=)
c.3057C>T (p.Ile1019=)
c.3144C>T (p.Ile1048=)
c.3279C>T (p.Ile1093=)
c.3180C>T (p.Ile1060=)
c.3117C>T (p.Ile1039=)
c.2982C>T (p.Ile994=)
c.3060C>T (p.Ile1020=)
c.2859C>T (p.Ile953=)
c.2958C>T (p.Ile986=)
c.3288C>T (p.Ile1096=)
c.3093C>T (p.Ile1031=)
c.3066C>T (p.Ile1022=)
c.3045C>T (p.Ile1015=)
c.3018C>T (p.Ile1006=)
c.3216C>T (p.Ile1072=)
c.807C>T (p.Ile269=)
c.2661C>T (p.Ile887=)
c.771C>T (p.Ile257=)
c.3189C>T (p.Ile1063=)
c.3042C>T (p.Ile1014=)
c.2751C>T (p.Ile917=)
c.2901C>T (p.Ile967=)
n.91C>T
c.280C>T
c.3156C>T (p.Ile1052=)
c.3276C>T (p.Ile1092=)
c.3240C>T (p.Ile1080=)
c.3330C>T (p.Ile1110=)
c.3294C>T (p.Ile1098=)
c.3270C>T (p.Ile1090=)
c.3315C>T (p.Ile1105=)
c.3255C>T (p.Ile1085=)
c.3222C>T (p.Ile1074=)
c.3285C>T (p.Ile1095=)
c.3141C>T (p.Ile1047=)
c.3321C>T (p.Ile1107=)
c.3213C>T (p.Ile1071=)
c.3177C>T (p.Ile1059=)
c.3192C>T (p.Ile1064=)
c.3102C>T (p.Ile1034=)
c.3030C>T (p.Ile1010=)
c.3114C>T (p.Ile1038=)
c.2943C>T (p.Ile981=)
c.3360C>T (p.Ile1120=)
c.3246C>T (p.Ile1082=)
c.3228C>T (p.Ile1076=)
c.3300C>T (p.Ile1100=)
c.2760C>T (p.Ile920=)
c.3087C>T (p.Ile1029=)
c.3108C>T (p.Ile1036=)
 dbSNP COSMIC COSMIC
4g.113333073C>ACA357935892ANK2c.3385C>A (p.Pro1129Thr)
c.3325C>A (p.Pro1109Thr)
n.1427C>A
n.881C>A
n.89C>A
n.6507C>A
n.4881C>A
n.1C>A
n.860C>A
n.2257C>A
n.1624C>A
n.970C>A
n.1388C>A
n.1839C>A
c.3244C>A (p.Pro1082Thr)
c.3082C>A (p.Pro1028Thr)
c.631C>A (p.Pro211Thr)
c.3058C>A (p.Pro1020Thr)
c.3145C>A (p.Pro1049Thr)
c.3280C>A (p.Pro1094Thr)
c.3181C>A (p.Pro1061Thr)
c.3118C>A (p.Pro1040Thr)
c.2983C>A (p.Pro995Thr)
c.3061C>A (p.Pro1021Thr)
c.2860C>A (p.Pro954Thr)
c.2959C>A (p.Pro987Thr)
c.3289C>A (p.Pro1097Thr)
c.3094C>A (p.Pro1032Thr)
c.3067C>A (p.Pro1023Thr)
c.3046C>A (p.Pro1016Thr)
c.3019C>A (p.Pro1007Thr)
c.3217C>A (p.Pro1073Thr)
c.808C>A (p.Pro270Thr)
c.2662C>A (p.Pro888Thr)
c.772C>A (p.Pro258Thr)
c.3190C>A (p.Pro1064Thr)
c.3043C>A (p.Pro1015Thr)
c.2752C>A (p.Pro918Thr)
c.2902C>A (p.Pro968Thr)
n.92C>A
c.281C>A
c.3157C>A (p.Pro1053Thr)
c.3277C>A (p.Pro1093Thr)
c.3241C>A (p.Pro1081Thr)
c.3331C>A (p.Pro1111Thr)
c.3295C>A (p.Pro1099Thr)
c.3271C>A (p.Pro1091Thr)
c.3316C>A (p.Pro1106Thr)
c.3256C>A (p.Pro1086Thr)
c.3223C>A (p.Pro1075Thr)
c.3286C>A (p.Pro1096Thr)
c.3142C>A (p.Pro1048Thr)
c.3322C>A (p.Pro1108Thr)
c.3214C>A (p.Pro1072Thr)
c.3178C>A (p.Pro1060Thr)
c.3193C>A (p.Pro1065Thr)
c.3103C>A (p.Pro1035Thr)
c.3031C>A (p.Pro1011Thr)
c.3115C>A (p.Pro1039Thr)
c.2944C>A (p.Pro982Thr)
c.3361C>A (p.Pro1121Thr)
c.3247C>A (p.Pro1083Thr)
c.3229C>A (p.Pro1077Thr)
c.3301C>A (p.Pro1101Thr)
c.2761C>A (p.Pro921Thr)
c.3088C>A (p.Pro1030Thr)
c.3109C>A (p.Pro1037Thr)
 dbSNP
4g.113333073C>GCA357935890ANK2c.3385C>G (p.Pro1129Ala)
c.3325C>G (p.Pro1109Ala)
n.1427C>G
n.881C>G
n.89C>G
n.6507C>G
n.4881C>G
n.1C>G
n.860C>G
n.2257C>G
n.1624C>G
n.970C>G
n.1388C>G
n.1839C>G
c.3244C>G (p.Pro1082Ala)
c.3082C>G (p.Pro1028Ala)
c.631C>G (p.Pro211Ala)
c.3058C>G (p.Pro1020Ala)
c.3145C>G (p.Pro1049Ala)
c.3280C>G (p.Pro1094Ala)
c.3181C>G (p.Pro1061Ala)
c.3118C>G (p.Pro1040Ala)
c.2983C>G (p.Pro995Ala)
c.3061C>G (p.Pro1021Ala)
c.2860C>G (p.Pro954Ala)
c.2959C>G (p.Pro987Ala)
c.3289C>G (p.Pro1097Ala)
c.3094C>G (p.Pro1032Ala)
c.3067C>G (p.Pro1023Ala)
c.3046C>G (p.Pro1016Ala)
c.3019C>G (p.Pro1007Ala)
c.3217C>G (p.Pro1073Ala)
c.808C>G (p.Pro270Ala)
c.2662C>G (p.Pro888Ala)
c.772C>G (p.Pro258Ala)
c.3190C>G (p.Pro1064Ala)
c.3043C>G (p.Pro1015Ala)
c.2752C>G (p.Pro918Ala)
c.2902C>G (p.Pro968Ala)
n.92C>G
c.281C>G
c.3157C>G (p.Pro1053Ala)
c.3277C>G (p.Pro1093Ala)
c.3241C>G (p.Pro1081Ala)
c.3331C>G (p.Pro1111Ala)
c.3295C>G (p.Pro1099Ala)
c.3271C>G (p.Pro1091Ala)
c.3316C>G (p.Pro1106Ala)
c.3256C>G (p.Pro1086Ala)
c.3223C>G (p.Pro1075Ala)
c.3286C>G (p.Pro1096Ala)
c.3142C>G (p.Pro1048Ala)
c.3322C>G (p.Pro1108Ala)
c.3214C>G (p.Pro1072Ala)
c.3178C>G (p.Pro1060Ala)
c.3193C>G (p.Pro1065Ala)
c.3103C>G (p.Pro1035Ala)
c.3031C>G (p.Pro1011Ala)
c.3115C>G (p.Pro1039Ala)
c.2944C>G (p.Pro982Ala)
c.3361C>G (p.Pro1121Ala)
c.3247C>G (p.Pro1083Ala)
c.3229C>G (p.Pro1077Ala)
c.3301C>G (p.Pro1101Ala)
c.2761C>G (p.Pro921Ala)
c.3088C>G (p.Pro1030Ala)
c.3109C>G (p.Pro1037Ala)
 dbSNP
4g.113333073C>TCA357935895ANK2c.3385C>T (p.Pro1129Ser)
c.3325C>T (p.Pro1109Ser)
n.1427C>T
n.881C>T
n.89C>T
n.6507C>T
n.4881C>T
n.1C>T
n.860C>T
n.2257C>T
n.1624C>T
n.970C>T
n.1388C>T
n.1839C>T
c.3244C>T (p.Pro1082Ser)
c.3082C>T (p.Pro1028Ser)
c.631C>T (p.Pro211Ser)
c.3058C>T (p.Pro1020Ser)
c.3145C>T (p.Pro1049Ser)
c.3280C>T (p.Pro1094Ser)
c.3181C>T (p.Pro1061Ser)
c.3118C>T (p.Pro1040Ser)
c.2983C>T (p.Pro995Ser)
c.3061C>T (p.Pro1021Ser)
c.2860C>T (p.Pro954Ser)
c.2959C>T (p.Pro987Ser)
c.3289C>T (p.Pro1097Ser)
c.3094C>T (p.Pro1032Ser)
c.3067C>T (p.Pro1023Ser)
c.3046C>T (p.Pro1016Ser)
c.3019C>T (p.Pro1007Ser)
c.3217C>T (p.Pro1073Ser)
c.808C>T (p.Pro270Ser)
c.2662C>T (p.Pro888Ser)
c.772C>T (p.Pro258Ser)
c.3190C>T (p.Pro1064Ser)
c.3043C>T (p.Pro1015Ser)
c.2752C>T (p.Pro918Ser)
c.2902C>T (p.Pro968Ser)
n.92C>T
c.281C>T
c.3157C>T (p.Pro1053Ser)
c.3277C>T (p.Pro1093Ser)
c.3241C>T (p.Pro1081Ser)
c.3331C>T (p.Pro1111Ser)
c.3295C>T (p.Pro1099Ser)
c.3271C>T (p.Pro1091Ser)
c.3316C>T (p.Pro1106Ser)
c.3256C>T (p.Pro1086Ser)
c.3223C>T (p.Pro1075Ser)
c.3286C>T (p.Pro1096Ser)
c.3142C>T (p.Pro1048Ser)
c.3322C>T (p.Pro1108Ser)
c.3214C>T (p.Pro1072Ser)
c.3178C>T (p.Pro1060Ser)
c.3193C>T (p.Pro1065Ser)
c.3103C>T (p.Pro1035Ser)
c.3031C>T (p.Pro1011Ser)
c.3115C>T (p.Pro1039Ser)
c.2944C>T (p.Pro982Ser)
c.3361C>T (p.Pro1121Ser)
c.3247C>T (p.Pro1083Ser)
c.3229C>T (p.Pro1077Ser)
c.3301C>T (p.Pro1101Ser)
c.2761C>T (p.Pro921Ser)
c.3088C>T (p.Pro1030Ser)
c.3109C>T (p.Pro1037Ser)
 dbSNP
4g.113333074C>ACA357935897ANK2c.3386C>A (p.Pro1129His)
c.3326C>A (p.Pro1109His)
n.1428C>A
n.882C>A
n.90C>A
n.6508C>A
n.4882C>A
n.2C>A
n.861C>A
n.2258C>A
n.1625C>A
n.971C>A
n.1389C>A
n.1840C>A
c.3245C>A (p.Pro1082His)
c.3083C>A (p.Pro1028His)
c.632C>A (p.Pro211His)
c.3059C>A (p.Pro1020His)
c.3146C>A (p.Pro1049His)
c.3281C>A (p.Pro1094His)
c.3182C>A (p.Pro1061His)
c.3119C>A (p.Pro1040His)
c.2984C>A (p.Pro995His)
c.3062C>A (p.Pro1021His)
c.2861C>A (p.Pro954His)
c.2960C>A (p.Pro987His)
c.3290C>A (p.Pro1097His)
c.3095C>A (p.Pro1032His)
c.3068C>A (p.Pro1023His)
c.3047C>A (p.Pro1016His)
c.3020C>A (p.Pro1007His)
c.3218C>A (p.Pro1073His)
c.809C>A (p.Pro270His)
c.2663C>A (p.Pro888His)
c.773C>A (p.Pro258His)
c.3191C>A (p.Pro1064His)
c.3044C>A (p.Pro1015His)
c.2753C>A (p.Pro918His)
c.2903C>A (p.Pro968His)
n.93C>A
c.282C>A
c.3158C>A (p.Pro1053His)
c.3278C>A (p.Pro1093His)
c.3242C>A (p.Pro1081His)
c.3332C>A (p.Pro1111His)
c.3296C>A (p.Pro1099His)
c.3272C>A (p.Pro1091His)
c.3317C>A (p.Pro1106His)
c.3257C>A (p.Pro1086His)
c.3224C>A (p.Pro1075His)
c.3287C>A (p.Pro1096His)
c.3143C>A (p.Pro1048His)
c.3323C>A (p.Pro1108His)
c.3215C>A (p.Pro1072His)
c.3179C>A (p.Pro1060His)
c.3194C>A (p.Pro1065His)
c.3104C>A (p.Pro1035His)
c.3032C>A (p.Pro1011His)
c.3116C>A (p.Pro1039His)
c.2945C>A (p.Pro982His)
c.3362C>A (p.Pro1121His)
c.3248C>A (p.Pro1083His)
c.3230C>A (p.Pro1077His)
c.3302C>A (p.Pro1101His)
c.2762C>A (p.Pro921His)
c.3089C>A (p.Pro1030His)
c.3110C>A (p.Pro1037His)
 dbSNP COSMIC COSMIC
4g.113333074C>GCA357935899ANK2c.3386C>G (p.Pro1129Arg)
c.3326C>G (p.Pro1109Arg)
n.1428C>G
n.882C>G
n.90C>G
n.6508C>G
n.4882C>G
n.2C>G
n.861C>G
n.2258C>G
n.1625C>G
n.971C>G
n.1389C>G
n.1840C>G
c.3245C>G (p.Pro1082Arg)
c.3083C>G (p.Pro1028Arg)
c.632C>G (p.Pro211Arg)
c.3059C>G (p.Pro1020Arg)
c.3146C>G (p.Pro1049Arg)
c.3281C>G (p.Pro1094Arg)
c.3182C>G (p.Pro1061Arg)
c.3119C>G (p.Pro1040Arg)
c.2984C>G (p.Pro995Arg)
c.3062C>G (p.Pro1021Arg)
c.2861C>G (p.Pro954Arg)
c.2960C>G (p.Pro987Arg)
c.3290C>G (p.Pro1097Arg)
c.3095C>G (p.Pro1032Arg)
c.3068C>G (p.Pro1023Arg)
c.3047C>G (p.Pro1016Arg)
c.3020C>G (p.Pro1007Arg)
c.3218C>G (p.Pro1073Arg)
c.809C>G (p.Pro270Arg)
c.2663C>G (p.Pro888Arg)
c.773C>G (p.Pro258Arg)
c.3191C>G (p.Pro1064Arg)
c.3044C>G (p.Pro1015Arg)
c.2753C>G (p.Pro918Arg)
c.2903C>G (p.Pro968Arg)
n.93C>G
c.282C>G
c.3158C>G (p.Pro1053Arg)
c.3278C>G (p.Pro1093Arg)
c.3242C>G (p.Pro1081Arg)
c.3332C>G (p.Pro1111Arg)
c.3296C>G (p.Pro1099Arg)
c.3272C>G (p.Pro1091Arg)
c.3317C>G (p.Pro1106Arg)
c.3257C>G (p.Pro1086Arg)
c.3224C>G (p.Pro1075Arg)
c.3287C>G (p.Pro1096Arg)
c.3143C>G (p.Pro1048Arg)
c.3323C>G (p.Pro1108Arg)
c.3215C>G (p.Pro1072Arg)
c.3179C>G (p.Pro1060Arg)
c.3194C>G (p.Pro1065Arg)
c.3104C>G (p.Pro1035Arg)
c.3032C>G (p.Pro1011Arg)
c.3116C>G (p.Pro1039Arg)
c.2945C>G (p.Pro982Arg)
c.3362C>G (p.Pro1121Arg)
c.3248C>G (p.Pro1083Arg)
c.3230C>G (p.Pro1077Arg)
c.3302C>G (p.Pro1101Arg)
c.2762C>G (p.Pro921Arg)
c.3089C>G (p.Pro1030Arg)
c.3110C>G (p.Pro1037Arg)
 dbSNP
4g.113333074C>TCA357935898ANK2c.3386C>T (p.Pro1129Leu)
c.3326C>T (p.Pro1109Leu)
n.1428C>T
n.882C>T
n.90C>T
n.6508C>T
n.4882C>T
n.2C>T
n.861C>T
n.2258C>T
n.1625C>T
n.971C>T
n.1389C>T
n.1840C>T
c.3245C>T (p.Pro1082Leu)
c.3083C>T (p.Pro1028Leu)
c.632C>T (p.Pro211Leu)
c.3059C>T (p.Pro1020Leu)
c.3146C>T (p.Pro1049Leu)
c.3281C>T (p.Pro1094Leu)
c.3182C>T (p.Pro1061Leu)
c.3119C>T (p.Pro1040Leu)
c.2984C>T (p.Pro995Leu)
c.3062C>T (p.Pro1021Leu)
c.2861C>T (p.Pro954Leu)
c.2960C>T (p.Pro987Leu)
c.3290C>T (p.Pro1097Leu)
c.3095C>T (p.Pro1032Leu)
c.3068C>T (p.Pro1023Leu)
c.3047C>T (p.Pro1016Leu)
c.3020C>T (p.Pro1007Leu)
c.3218C>T (p.Pro1073Leu)
c.809C>T (p.Pro270Leu)
c.2663C>T (p.Pro888Leu)
c.773C>T (p.Pro258Leu)
c.3191C>T (p.Pro1064Leu)
c.3044C>T (p.Pro1015Leu)
c.2753C>T (p.Pro918Leu)
c.2903C>T (p.Pro968Leu)
n.93C>T
c.282C>T
c.3158C>T (p.Pro1053Leu)
c.3278C>T (p.Pro1093Leu)
c.3242C>T (p.Pro1081Leu)
c.3332C>T (p.Pro1111Leu)
c.3296C>T (p.Pro1099Leu)
c.3272C>T (p.Pro1091Leu)
c.3317C>T (p.Pro1106Leu)
c.3257C>T (p.Pro1086Leu)
c.3224C>T (p.Pro1075Leu)
c.3287C>T (p.Pro1096Leu)
c.3143C>T (p.Pro1048Leu)
c.3323C>T (p.Pro1108Leu)
c.3215C>T (p.Pro1072Leu)
c.3179C>T (p.Pro1060Leu)
c.3194C>T (p.Pro1065Leu)
c.3104C>T (p.Pro1035Leu)
c.3032C>T (p.Pro1011Leu)
c.3116C>T (p.Pro1039Leu)
c.2945C>T (p.Pro982Leu)
c.3362C>T (p.Pro1121Leu)
c.3248C>T (p.Pro1083Leu)
c.3230C>T (p.Pro1077Leu)
c.3302C>T (p.Pro1101Leu)
c.2762C>T (p.Pro921Leu)
c.3089C>T (p.Pro1030Leu)
c.3110C>T (p.Pro1037Leu)
 dbSNP
4g.113333075T>ACA440842796ANK2c.3387T>A (p.Pro1129=)
c.3327T>A (p.Pro1109=)
n.1429T>A
n.883T>A
n.91T>A
n.6509T>A
n.4883T>A
n.3T>A
n.862T>A
n.2259T>A
n.1626T>A
n.972T>A
n.1390T>A
n.1841T>A
c.3246T>A (p.Pro1082=)
c.3084T>A (p.Pro1028=)
c.633T>A (p.Pro211=)
c.3060T>A (p.Pro1020=)
c.3147T>A (p.Pro1049=)
c.3282T>A (p.Pro1094=)
c.3183T>A (p.Pro1061=)
c.3120T>A (p.Pro1040=)
c.2985T>A (p.Pro995=)
c.3063T>A (p.Pro1021=)
c.2862T>A (p.Pro954=)
c.2961T>A (p.Pro987=)
c.3291T>A (p.Pro1097=)
c.3096T>A (p.Pro1032=)
c.3069T>A (p.Pro1023=)
c.3048T>A (p.Pro1016=)
c.3021T>A (p.Pro1007=)
c.3219T>A (p.Pro1073=)
c.810T>A (p.Pro270=)
c.2664T>A (p.Pro888=)
c.774T>A (p.Pro258=)
c.3192T>A (p.Pro1064=)
c.3045T>A (p.Pro1015=)
c.2754T>A (p.Pro918=)
c.2904T>A (p.Pro968=)
n.94T>A
c.283T>A
c.3159T>A (p.Pro1053=)
c.3279T>A (p.Pro1093=)
c.3243T>A (p.Pro1081=)
c.3333T>A (p.Pro1111=)
c.3297T>A (p.Pro1099=)
c.3273T>A (p.Pro1091=)
c.3318T>A (p.Pro1106=)
c.3258T>A (p.Pro1086=)
c.3225T>A (p.Pro1075=)
c.3288T>A (p.Pro1096=)
c.3144T>A (p.Pro1048=)
c.3324T>A (p.Pro1108=)
c.3216T>A (p.Pro1072=)
c.3180T>A (p.Pro1060=)
c.3195T>A (p.Pro1065=)
c.3105T>A (p.Pro1035=)
c.3033T>A (p.Pro1011=)
c.3117T>A (p.Pro1039=)
c.2946T>A (p.Pro982=)
c.3363T>A (p.Pro1121=)
c.3249T>A (p.Pro1083=)
c.3231T>A (p.Pro1077=)
c.3303T>A (p.Pro1101=)
c.2763T>A (p.Pro921=)
c.3090T>A (p.Pro1030=)
c.3111T>A (p.Pro1037=)
 dbSNP
4g.113333075T>CCA440842797ANK2c.3387T>C (p.Pro1129=)
c.3327T>C (p.Pro1109=)
n.1429T>C
n.883T>C
n.91T>C
n.6509T>C
n.4883T>C
n.3T>C
n.862T>C
n.2259T>C
n.1626T>C
n.972T>C
n.1390T>C
n.1841T>C
c.3246T>C (p.Pro1082=)
c.3084T>C (p.Pro1028=)
c.633T>C (p.Pro211=)
c.3060T>C (p.Pro1020=)
c.3147T>C (p.Pro1049=)
c.3282T>C (p.Pro1094=)
c.3183T>C (p.Pro1061=)
c.3120T>C (p.Pro1040=)
c.2985T>C (p.Pro995=)
c.3063T>C (p.Pro1021=)
c.2862T>C (p.Pro954=)
c.2961T>C (p.Pro987=)
c.3291T>C (p.Pro1097=)
c.3096T>C (p.Pro1032=)
c.3069T>C (p.Pro1023=)
c.3048T>C (p.Pro1016=)
c.3021T>C (p.Pro1007=)
c.3219T>C (p.Pro1073=)
c.810T>C (p.Pro270=)
c.2664T>C (p.Pro888=)
c.774T>C (p.Pro258=)
c.3192T>C (p.Pro1064=)
c.3045T>C (p.Pro1015=)
c.2754T>C (p.Pro918=)
c.2904T>C (p.Pro968=)
n.94T>C
c.283T>C
c.3159T>C (p.Pro1053=)
c.3279T>C (p.Pro1093=)
c.3243T>C (p.Pro1081=)
c.3333T>C (p.Pro1111=)
c.3297T>C (p.Pro1099=)
c.3273T>C (p.Pro1091=)
c.3318T>C (p.Pro1106=)
c.3258T>C (p.Pro1086=)
c.3225T>C (p.Pro1075=)
c.3288T>C (p.Pro1096=)
c.3144T>C (p.Pro1048=)
c.3324T>C (p.Pro1108=)
c.3216T>C (p.Pro1072=)
c.3180T>C (p.Pro1060=)
c.3195T>C (p.Pro1065=)
c.3105T>C (p.Pro1035=)
c.3033T>C (p.Pro1011=)
c.3117T>C (p.Pro1039=)
c.2946T>C (p.Pro982=)
c.3363T>C (p.Pro1121=)
c.3249T>C (p.Pro1083=)
c.3231T>C (p.Pro1077=)
c.3303T>C (p.Pro1101=)
c.2763T>C (p.Pro921=)
c.3090T>C (p.Pro1030=)
c.3111T>C (p.Pro1037=)
 dbSNP
4g.113333075T>GCA440842798ANK2c.3387T>G (p.Pro1129=)
c.3327T>G (p.Pro1109=)
n.1429T>G
n.883T>G
n.91T>G
n.6509T>G
n.4883T>G
n.3T>G
n.862T>G
n.2259T>G
n.1626T>G
n.972T>G
n.1390T>G
n.1841T>G
c.3246T>G (p.Pro1082=)
c.3084T>G (p.Pro1028=)
c.633T>G (p.Pro211=)
c.3060T>G (p.Pro1020=)
c.3147T>G (p.Pro1049=)
c.3282T>G (p.Pro1094=)
c.3183T>G (p.Pro1061=)
c.3120T>G (p.Pro1040=)
c.2985T>G (p.Pro995=)
c.3063T>G (p.Pro1021=)
c.2862T>G (p.Pro954=)
c.2961T>G (p.Pro987=)
c.3291T>G (p.Pro1097=)
c.3096T>G (p.Pro1032=)
c.3069T>G (p.Pro1023=)
c.3048T>G (p.Pro1016=)
c.3021T>G (p.Pro1007=)
c.3219T>G (p.Pro1073=)
c.810T>G (p.Pro270=)
c.2664T>G (p.Pro888=)
c.774T>G (p.Pro258=)
c.3192T>G (p.Pro1064=)
c.3045T>G (p.Pro1015=)
c.2754T>G (p.Pro918=)
c.2904T>G (p.Pro968=)
n.94T>G
c.283T>G
c.3159T>G (p.Pro1053=)
c.3279T>G (p.Pro1093=)
c.3243T>G (p.Pro1081=)
c.3333T>G (p.Pro1111=)
c.3297T>G (p.Pro1099=)
c.3273T>G (p.Pro1091=)
c.3318T>G (p.Pro1106=)
c.3258T>G (p.Pro1086=)
c.3225T>G (p.Pro1075=)
c.3288T>G (p.Pro1096=)
c.3144T>G (p.Pro1048=)
c.3324T>G (p.Pro1108=)
c.3216T>G (p.Pro1072=)
c.3180T>G (p.Pro1060=)
c.3195T>G (p.Pro1065=)
c.3105T>G (p.Pro1035=)
c.3033T>G (p.Pro1011=)
c.3117T>G (p.Pro1039=)
c.2946T>G (p.Pro982=)
c.3363T>G (p.Pro1121=)
c.3249T>G (p.Pro1083=)
c.3231T>G (p.Pro1077=)
c.3303T>G (p.Pro1101=)
c.2763T>G (p.Pro921=)
c.3090T>G (p.Pro1030=)
c.3111T>G (p.Pro1037=)
4g.113333076C>ACA357935901ANK2c.3388C>A (p.His1130Asn)
c.3328C>A (p.His1110Asn)
n.1430C>A
n.884C>A
n.92C>A
n.6510C>A
n.4884C>A
n.4C>A
n.863C>A
n.2260C>A
n.1627C>A
n.973C>A
n.1391C>A
n.1842C>A
c.3247C>A (p.His1083Asn)
c.3085C>A (p.His1029Asn)
c.634C>A (p.His212Asn)
c.3061C>A (p.His1021Asn)
c.3148C>A (p.His1050Asn)
c.3283C>A (p.His1095Asn)
c.3184C>A (p.His1062Asn)
c.3121C>A (p.His1041Asn)
c.2986C>A (p.His996Asn)
c.3064C>A (p.His1022Asn)
c.2863C>A (p.His955Asn)
c.2962C>A (p.His988Asn)
c.3292C>A (p.His1098Asn)
c.3097C>A (p.His1033Asn)
c.3070C>A (p.His1024Asn)
c.3049C>A (p.His1017Asn)
c.3022C>A (p.His1008Asn)
c.3220C>A (p.His1074Asn)
c.811C>A (p.His271Asn)
c.2665C>A (p.His889Asn)
c.775C>A (p.His259Asn)
c.3193C>A (p.His1065Asn)
c.3046C>A (p.His1016Asn)
c.2755C>A (p.His919Asn)
c.2905C>A (p.His969Asn)
n.95C>A
c.284C>A
c.3160C>A (p.His1054Asn)
c.3280C>A (p.His1094Asn)
c.3244C>A (p.His1082Asn)
c.3334C>A (p.His1112Asn)
c.3298C>A (p.His1100Asn)
c.3274C>A (p.His1092Asn)
c.3319C>A (p.His1107Asn)
c.3259C>A (p.His1087Asn)
c.3226C>A (p.His1076Asn)
c.3289C>A (p.His1097Asn)
c.3145C>A (p.His1049Asn)
c.3325C>A (p.His1109Asn)
c.3217C>A (p.His1073Asn)
c.3181C>A (p.His1061Asn)
c.3196C>A (p.His1066Asn)
c.3106C>A (p.His1036Asn)
c.3034C>A (p.His1012Asn)
c.3118C>A (p.His1040Asn)
c.2947C>A (p.His983Asn)
c.3364C>A (p.His1122Asn)
c.3250C>A (p.His1084Asn)
c.3232C>A (p.His1078Asn)
c.3304C>A (p.His1102Asn)
c.2764C>A (p.His922Asn)
c.3091C>A (p.His1031Asn)
c.3112C>A (p.His1038Asn)
 dbSNP
4g.113333076C>GCA357935905ANK2c.3388C>G (p.His1130Asp)
c.3328C>G (p.His1110Asp)
n.1430C>G
n.884C>G
n.92C>G
n.6510C>G
n.4884C>G
n.4C>G
n.863C>G
n.2260C>G
n.1627C>G
n.973C>G
n.1391C>G
n.1842C>G
c.3247C>G (p.His1083Asp)
c.3085C>G (p.His1029Asp)
c.634C>G (p.His212Asp)
c.3061C>G (p.His1021Asp)
c.3148C>G (p.His1050Asp)
c.3283C>G (p.His1095Asp)
c.3184C>G (p.His1062Asp)
c.3121C>G (p.His1041Asp)
c.2986C>G (p.His996Asp)
c.3064C>G (p.His1022Asp)
c.2863C>G (p.His955Asp)
c.2962C>G (p.His988Asp)
c.3292C>G (p.His1098Asp)
c.3097C>G (p.His1033Asp)
c.3070C>G (p.His1024Asp)
c.3049C>G (p.His1017Asp)
c.3022C>G (p.His1008Asp)
c.3220C>G (p.His1074Asp)
c.811C>G (p.His271Asp)
c.2665C>G (p.His889Asp)
c.775C>G (p.His259Asp)
c.3193C>G (p.His1065Asp)
c.3046C>G (p.His1016Asp)
c.2755C>G (p.His919Asp)
c.2905C>G (p.His969Asp)
n.95C>G
c.284C>G
c.3160C>G (p.His1054Asp)
c.3280C>G (p.His1094Asp)
c.3244C>G (p.His1082Asp)
c.3334C>G (p.His1112Asp)
c.3298C>G (p.His1100Asp)
c.3274C>G (p.His1092Asp)
c.3319C>G (p.His1107Asp)
c.3259C>G (p.His1087Asp)
c.3226C>G (p.His1076Asp)
c.3289C>G (p.His1097Asp)
c.3145C>G (p.His1049Asp)
c.3325C>G (p.His1109Asp)
c.3217C>G (p.His1073Asp)
c.3181C>G (p.His1061Asp)
c.3196C>G (p.His1066Asp)
c.3106C>G (p.His1036Asp)
c.3034C>G (p.His1012Asp)
c.3118C>G (p.His1040Asp)
c.2947C>G (p.His983Asp)
c.3364C>G (p.His1122Asp)
c.3250C>G (p.His1084Asp)
c.3232C>G (p.His1078Asp)
c.3304C>G (p.His1102Asp)
c.2764C>G (p.His922Asp)
c.3091C>G (p.His1031Asp)
c.3112C>G (p.His1038Asp)
 dbSNP
4g.113333076C>TCA357935903ANK2c.3388C>T (p.His1130Tyr)
c.3328C>T (p.His1110Tyr)
n.1430C>T
n.884C>T
n.92C>T
n.6510C>T
n.4884C>T
n.4C>T
n.863C>T
n.2260C>T
n.1627C>T
n.973C>T
n.1391C>T
n.1842C>T
c.3247C>T (p.His1083Tyr)
c.3085C>T (p.His1029Tyr)
c.634C>T (p.His212Tyr)
c.3061C>T (p.His1021Tyr)
c.3148C>T (p.His1050Tyr)
c.3283C>T (p.His1095Tyr)
c.3184C>T (p.His1062Tyr)
c.3121C>T (p.His1041Tyr)
c.2986C>T (p.His996Tyr)
c.3064C>T (p.His1022Tyr)
c.2863C>T (p.His955Tyr)
c.2962C>T (p.His988Tyr)
c.3292C>T (p.His1098Tyr)
c.3097C>T (p.His1033Tyr)
c.3070C>T (p.His1024Tyr)
c.3049C>T (p.His1017Tyr)
c.3022C>T (p.His1008Tyr)
c.3220C>T (p.His1074Tyr)
c.811C>T (p.His271Tyr)
c.2665C>T (p.His889Tyr)
c.775C>T (p.His259Tyr)
c.3193C>T (p.His1065Tyr)
c.3046C>T (p.His1016Tyr)
c.2755C>T (p.His919Tyr)
c.2905C>T (p.His969Tyr)
n.95C>T
c.284C>T
c.3160C>T (p.His1054Tyr)
c.3280C>T (p.His1094Tyr)
c.3244C>T (p.His1082Tyr)
c.3334C>T (p.His1112Tyr)
c.3298C>T (p.His1100Tyr)
c.3274C>T (p.His1092Tyr)
c.3319C>T (p.His1107Tyr)
c.3259C>T (p.His1087Tyr)
c.3226C>T (p.His1076Tyr)
c.3289C>T (p.His1097Tyr)
c.3145C>T (p.His1049Tyr)
c.3325C>T (p.His1109Tyr)
c.3217C>T (p.His1073Tyr)
c.3181C>T (p.His1061Tyr)
c.3196C>T (p.His1066Tyr)
c.3106C>T (p.His1036Tyr)
c.3034C>T (p.His1012Tyr)
c.3118C>T (p.His1040Tyr)
c.2947C>T (p.His983Tyr)
c.3364C>T (p.His1122Tyr)
c.3250C>T (p.His1084Tyr)
c.3232C>T (p.His1078Tyr)
c.3304C>T (p.His1102Tyr)
c.2764C>T (p.His922Tyr)
c.3091C>T (p.His1031Tyr)
c.3112C>T (p.His1038Tyr)
 dbSNP
4g.113333077A>CCA357935907ANK2c.3389A>C (p.His1130Pro)
c.3329A>C (p.His1110Pro)
n.1431A>C
n.885A>C
n.93A>C
n.6511A>C
n.4885A>C
n.5A>C
n.864A>C
n.2261A>C
n.1628A>C
n.974A>C
n.1392A>C
n.1843A>C
c.3248A>C (p.His1083Pro)
c.3086A>C (p.His1029Pro)
c.635A>C (p.His212Pro)
c.3062A>C (p.His1021Pro)
c.3149A>C (p.His1050Pro)
c.3284A>C (p.His1095Pro)
c.3185A>C (p.His1062Pro)
c.3122A>C (p.His1041Pro)
c.2987A>C (p.His996Pro)
c.3065A>C (p.His1022Pro)
c.2864A>C (p.His955Pro)
c.2963A>C (p.His988Pro)
c.3293A>C (p.His1098Pro)
c.3098A>C (p.His1033Pro)
c.3071A>C (p.His1024Pro)
c.3050A>C (p.His1017Pro)
c.3023A>C (p.His1008Pro)
c.3221A>C (p.His1074Pro)
c.812A>C (p.His271Pro)
c.2666A>C (p.His889Pro)
c.776A>C (p.His259Pro)
c.3194A>C (p.His1065Pro)
c.3047A>C (p.His1016Pro)
c.2756A>C (p.His919Pro)
c.2906A>C (p.His969Pro)
n.96A>C
c.285A>C
c.3161A>C (p.His1054Pro)
c.3281A>C (p.His1094Pro)
c.3245A>C (p.His1082Pro)
c.3335A>C (p.His1112Pro)
c.3299A>C (p.His1100Pro)
c.3275A>C (p.His1092Pro)
c.3320A>C (p.His1107Pro)
c.3260A>C (p.His1087Pro)
c.3227A>C (p.His1076Pro)
c.3290A>C (p.His1097Pro)
c.3146A>C (p.His1049Pro)
c.3326A>C (p.His1109Pro)
c.3218A>C (p.His1073Pro)
c.3182A>C (p.His1061Pro)
c.3197A>C (p.His1066Pro)
c.3107A>C (p.His1036Pro)
c.3035A>C (p.His1012Pro)
c.3119A>C (p.His1040Pro)
c.2948A>C (p.His983Pro)
c.3365A>C (p.His1122Pro)
c.3251A>C (p.His1084Pro)
c.3233A>C (p.His1078Pro)
c.3305A>C (p.His1102Pro)
c.2765A>C (p.His922Pro)
c.3092A>C (p.His1031Pro)
c.3113A>C (p.His1038Pro)

Number of alleles fetched