Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.113330413_113330415delCA2671820656ANK2c.3209_3211del (p.Gly1070del)
c.3149_3151del (p.Gly1050del)
n.804_806del
n.6430_6432del
n.3204_3206del
n.783_785del
n.2180_2182del
n.1448_1450del
n.794_796del
n.1212_1214del
n.162_164del
c.3068_3070del (p.Gly1023del)
c.3005_3007del (p.Gly1002del)
c.554_556del (p.Gly185del)
c.2981_2983del (p.Gly994del)
c.3104_3106del (p.Gly1035del)
c.3041_3043del (p.Gly1014del)
c.2906_2908del (p.Gly969del)
c.2984_2986del (p.Gly995del)
c.2783_2785del (p.Gly928del)
c.2882_2884del (p.Gly961del)
c.3113_3115del (p.Gly1038del)
c.3017_3019del (p.Gly1006del)
c.2990_2992del (p.Gly997del)
c.2969_2971del (p.Gly990del)
c.2942_2944del (p.Gly981del)
c.731_733del (p.Gly244del)
c.2585_2587del (p.Gly862del)
c.695_697del (p.Gly232del)
c.2966_2968del (p.Gly989del)
c.2675_2677del (p.Gly892del)
c.2825_2827del (p.Gly942del)
c.204_206del
c.3200_3202del (p.Gly1067del)
c.3164_3166del (p.Gly1055del)
c.3254_3256del (p.Gly1085del)
c.3218_3220del (p.Gly1073del)
c.3194_3196del (p.Gly1065del)
c.3140_3142del (p.Gly1047del)
c.3080_3082del (p.Gly1027del)
c.3146_3148del (p.Gly1049del)
c.3110_3112del (p.Gly1037del)
c.3065_3067del (p.Gly1022del)
c.3038_3040del (p.Gly1013del)
c.3002_3004del (p.Gly1001del)
c.3026_3028del (p.Gly1009del)
c.2855_2857del (p.Gly952del)
c.2867_2869del (p.Gly956del)
c.3185_3187del (p.Gly1062del)
c.3095_3097del (p.Gly1032del)
c.3071_3073del (p.Gly1024del)
c.3053_3055del (p.Gly1018del)
c.3125_3127del (p.Gly1042del)
c.2684_2686del (p.Gly895del)
c.3011_3013del (p.Gly1004del)
c.3032_3034del (p.Gly1011del)
 gnomAD v4
4g.113330415G>ACA357935248ANK2c.3211G>A (p.Glu1071Lys)
c.3151G>A (p.Glu1051Lys)
n.806G>A
n.6432G>A
n.3206G>A
n.785G>A
n.2182G>A
n.1450G>A
n.796G>A
n.1214G>A
n.164G>A
c.3070G>A (p.Glu1024Lys)
c.3007G>A (p.Glu1003Lys)
c.556G>A (p.Glu186Lys)
c.2983G>A (p.Glu995Lys)
c.3106G>A (p.Glu1036Lys)
c.3043G>A (p.Glu1015Lys)
c.2908G>A (p.Glu970Lys)
c.2986G>A (p.Glu996Lys)
c.2785G>A (p.Glu929Lys)
c.2884G>A (p.Glu962Lys)
c.3115G>A (p.Glu1039Lys)
c.3019G>A (p.Glu1007Lys)
c.2992G>A (p.Glu998Lys)
c.2971G>A (p.Glu991Lys)
c.2944G>A (p.Glu982Lys)
c.733G>A (p.Glu245Lys)
c.2587G>A (p.Glu863Lys)
c.697G>A (p.Glu233Lys)
c.2968G>A (p.Glu990Lys)
c.2677G>A (p.Glu893Lys)
c.2827G>A (p.Glu943Lys)
c.206G>A
c.3202G>A (p.Glu1068Lys)
c.3166G>A (p.Glu1056Lys)
c.3256G>A (p.Glu1086Lys)
c.3220G>A (p.Glu1074Lys)
c.3196G>A (p.Glu1066Lys)
c.3142G>A (p.Glu1048Lys)
c.3082G>A (p.Glu1028Lys)
c.3148G>A (p.Glu1050Lys)
c.3112G>A (p.Glu1038Lys)
c.3067G>A (p.Glu1023Lys)
c.3040G>A (p.Glu1014Lys)
c.3004G>A (p.Glu1002Lys)
c.3028G>A (p.Glu1010Lys)
c.2857G>A (p.Glu953Lys)
c.2869G>A (p.Glu957Lys)
c.3187G>A (p.Glu1063Lys)
c.3097G>A (p.Glu1033Lys)
c.3073G>A (p.Glu1025Lys)
c.3055G>A (p.Glu1019Lys)
c.3127G>A (p.Glu1043Lys)
c.2686G>A (p.Glu896Lys)
c.3013G>A (p.Glu1005Lys)
c.3034G>A (p.Glu1012Lys)
4g.113330415G>CCA357935249ANK2c.3211G>C (p.Glu1071Gln)
c.3151G>C (p.Glu1051Gln)
n.806G>C
n.6432G>C
n.3206G>C
n.785G>C
n.2182G>C
n.1450G>C
n.796G>C
n.1214G>C
n.164G>C
c.3070G>C (p.Glu1024Gln)
c.3007G>C (p.Glu1003Gln)
c.556G>C (p.Glu186Gln)
c.2983G>C (p.Glu995Gln)
c.3106G>C (p.Glu1036Gln)
c.3043G>C (p.Glu1015Gln)
c.2908G>C (p.Glu970Gln)
c.2986G>C (p.Glu996Gln)
c.2785G>C (p.Glu929Gln)
c.2884G>C (p.Glu962Gln)
c.3115G>C (p.Glu1039Gln)
c.3019G>C (p.Glu1007Gln)
c.2992G>C (p.Glu998Gln)
c.2971G>C (p.Glu991Gln)
c.2944G>C (p.Glu982Gln)
c.733G>C (p.Glu245Gln)
c.2587G>C (p.Glu863Gln)
c.697G>C (p.Glu233Gln)
c.2968G>C (p.Glu990Gln)
c.2677G>C (p.Glu893Gln)
c.2827G>C (p.Glu943Gln)
c.206G>C
c.3202G>C (p.Glu1068Gln)
c.3166G>C (p.Glu1056Gln)
c.3256G>C (p.Glu1086Gln)
c.3220G>C (p.Glu1074Gln)
c.3196G>C (p.Glu1066Gln)
c.3142G>C (p.Glu1048Gln)
c.3082G>C (p.Glu1028Gln)
c.3148G>C (p.Glu1050Gln)
c.3112G>C (p.Glu1038Gln)
c.3067G>C (p.Glu1023Gln)
c.3040G>C (p.Glu1014Gln)
c.3004G>C (p.Glu1002Gln)
c.3028G>C (p.Glu1010Gln)
c.2857G>C (p.Glu953Gln)
c.2869G>C (p.Glu957Gln)
c.3187G>C (p.Glu1063Gln)
c.3097G>C (p.Glu1033Gln)
c.3073G>C (p.Glu1025Gln)
c.3055G>C (p.Glu1019Gln)
c.3127G>C (p.Glu1043Gln)
c.2686G>C (p.Glu896Gln)
c.3013G>C (p.Glu1005Gln)
c.3034G>C (p.Glu1012Gln)
4g.113330415G>TCA357935250ANK2c.3211G>T (p.Glu1071Ter)
c.3151G>T (p.Glu1051Ter)
n.806G>T
n.6432G>T
n.3206G>T
n.785G>T
n.2182G>T
n.1450G>T
n.796G>T
n.1214G>T
n.164G>T
c.3070G>T (p.Glu1024Ter)
c.3007G>T (p.Glu1003Ter)
c.556G>T (p.Glu186Ter)
c.2983G>T (p.Glu995Ter)
c.3106G>T (p.Glu1036Ter)
c.3043G>T (p.Glu1015Ter)
c.2908G>T (p.Glu970Ter)
c.2986G>T (p.Glu996Ter)
c.2785G>T (p.Glu929Ter)
c.2884G>T (p.Glu962Ter)
c.3115G>T (p.Glu1039Ter)
c.3019G>T (p.Glu1007Ter)
c.2992G>T (p.Glu998Ter)
c.2971G>T (p.Glu991Ter)
c.2944G>T (p.Glu982Ter)
c.733G>T (p.Glu245Ter)
c.2587G>T (p.Glu863Ter)
c.697G>T (p.Glu233Ter)
c.2968G>T (p.Glu990Ter)
c.2677G>T (p.Glu893Ter)
c.2827G>T (p.Glu943Ter)
c.206G>T
c.3202G>T (p.Glu1068Ter)
c.3166G>T (p.Glu1056Ter)
c.3256G>T (p.Glu1086Ter)
c.3220G>T (p.Glu1074Ter)
c.3196G>T (p.Glu1066Ter)
c.3142G>T (p.Glu1048Ter)
c.3082G>T (p.Glu1028Ter)
c.3148G>T (p.Glu1050Ter)
c.3112G>T (p.Glu1038Ter)
c.3067G>T (p.Glu1023Ter)
c.3040G>T (p.Glu1014Ter)
c.3004G>T (p.Glu1002Ter)
c.3028G>T (p.Glu1010Ter)
c.2857G>T (p.Glu953Ter)
c.2869G>T (p.Glu957Ter)
c.3187G>T (p.Glu1063Ter)
c.3097G>T (p.Glu1033Ter)
c.3073G>T (p.Glu1025Ter)
c.3055G>T (p.Glu1019Ter)
c.3127G>T (p.Glu1043Ter)
c.2686G>T (p.Glu896Ter)
c.3013G>T (p.Glu1005Ter)
c.3034G>T (p.Glu1012Ter)
4g.113330416A>CCA357935251ANK2c.3212A>C (p.Glu1071Ala)
c.3152A>C (p.Glu1051Ala)
n.807A>C
n.6433A>C
n.3207A>C
n.786A>C
n.2183A>C
n.1451A>C
n.797A>C
n.1215A>C
n.165A>C
c.3071A>C (p.Glu1024Ala)
c.3008A>C (p.Glu1003Ala)
c.557A>C (p.Glu186Ala)
c.2984A>C (p.Glu995Ala)
c.3107A>C (p.Glu1036Ala)
c.3044A>C (p.Glu1015Ala)
c.2909A>C (p.Glu970Ala)
c.2987A>C (p.Glu996Ala)
c.2786A>C (p.Glu929Ala)
c.2885A>C (p.Glu962Ala)
c.3116A>C (p.Glu1039Ala)
c.3020A>C (p.Glu1007Ala)
c.2993A>C (p.Glu998Ala)
c.2972A>C (p.Glu991Ala)
c.2945A>C (p.Glu982Ala)
c.734A>C (p.Glu245Ala)
c.2588A>C (p.Glu863Ala)
c.698A>C (p.Glu233Ala)
c.2969A>C (p.Glu990Ala)
c.2678A>C (p.Glu893Ala)
c.2828A>C (p.Glu943Ala)
c.207A>C
c.3203A>C (p.Glu1068Ala)
c.3167A>C (p.Glu1056Ala)
c.3257A>C (p.Glu1086Ala)
c.3221A>C (p.Glu1074Ala)
c.3197A>C (p.Glu1066Ala)
c.3143A>C (p.Glu1048Ala)
c.3083A>C (p.Glu1028Ala)
c.3149A>C (p.Glu1050Ala)
c.3113A>C (p.Glu1038Ala)
c.3068A>C (p.Glu1023Ala)
c.3041A>C (p.Glu1014Ala)
c.3005A>C (p.Glu1002Ala)
c.3029A>C (p.Glu1010Ala)
c.2858A>C (p.Glu953Ala)
c.2870A>C (p.Glu957Ala)
c.3188A>C (p.Glu1063Ala)
c.3098A>C (p.Glu1033Ala)
c.3074A>C (p.Glu1025Ala)
c.3056A>C (p.Glu1019Ala)
c.3128A>C (p.Glu1043Ala)
c.2687A>C (p.Glu896Ala)
c.3014A>C (p.Glu1005Ala)
c.3035A>C (p.Glu1012Ala)
4g.113330416A>GCA357935252ANK2c.3212A>G (p.Glu1071Gly)
c.3152A>G (p.Glu1051Gly)
n.807A>G
n.6433A>G
n.3207A>G
n.786A>G
n.2183A>G
n.1451A>G
n.797A>G
n.1215A>G
n.165A>G
c.3071A>G (p.Glu1024Gly)
c.3008A>G (p.Glu1003Gly)
c.557A>G (p.Glu186Gly)
c.2984A>G (p.Glu995Gly)
c.3107A>G (p.Glu1036Gly)
c.3044A>G (p.Glu1015Gly)
c.2909A>G (p.Glu970Gly)
c.2987A>G (p.Glu996Gly)
c.2786A>G (p.Glu929Gly)
c.2885A>G (p.Glu962Gly)
c.3116A>G (p.Glu1039Gly)
c.3020A>G (p.Glu1007Gly)
c.2993A>G (p.Glu998Gly)
c.2972A>G (p.Glu991Gly)
c.2945A>G (p.Glu982Gly)
c.734A>G (p.Glu245Gly)
c.2588A>G (p.Glu863Gly)
c.698A>G (p.Glu233Gly)
c.2969A>G (p.Glu990Gly)
c.2678A>G (p.Glu893Gly)
c.2828A>G (p.Glu943Gly)
c.207A>G
c.3203A>G (p.Glu1068Gly)
c.3167A>G (p.Glu1056Gly)
c.3257A>G (p.Glu1086Gly)
c.3221A>G (p.Glu1074Gly)
c.3197A>G (p.Glu1066Gly)
c.3143A>G (p.Glu1048Gly)
c.3083A>G (p.Glu1028Gly)
c.3149A>G (p.Glu1050Gly)
c.3113A>G (p.Glu1038Gly)
c.3068A>G (p.Glu1023Gly)
c.3041A>G (p.Glu1014Gly)
c.3005A>G (p.Glu1002Gly)
c.3029A>G (p.Glu1010Gly)
c.2858A>G (p.Glu953Gly)
c.2870A>G (p.Glu957Gly)
c.3188A>G (p.Glu1063Gly)
c.3098A>G (p.Glu1033Gly)
c.3074A>G (p.Glu1025Gly)
c.3056A>G (p.Glu1019Gly)
c.3128A>G (p.Glu1043Gly)
c.2687A>G (p.Glu896Gly)
c.3014A>G (p.Glu1005Gly)
c.3035A>G (p.Glu1012Gly)
 dbSNP
4g.113330416A>TCA357935253ANK2c.3212A>T (p.Glu1071Val)
c.3152A>T (p.Glu1051Val)
n.807A>T
n.6433A>T
n.3207A>T
n.786A>T
n.2183A>T
n.1451A>T
n.797A>T
n.1215A>T
n.165A>T
c.3071A>T (p.Glu1024Val)
c.3008A>T (p.Glu1003Val)
c.557A>T (p.Glu186Val)
c.2984A>T (p.Glu995Val)
c.3107A>T (p.Glu1036Val)
c.3044A>T (p.Glu1015Val)
c.2909A>T (p.Glu970Val)
c.2987A>T (p.Glu996Val)
c.2786A>T (p.Glu929Val)
c.2885A>T (p.Glu962Val)
c.3116A>T (p.Glu1039Val)
c.3020A>T (p.Glu1007Val)
c.2993A>T (p.Glu998Val)
c.2972A>T (p.Glu991Val)
c.2945A>T (p.Glu982Val)
c.734A>T (p.Glu245Val)
c.2588A>T (p.Glu863Val)
c.698A>T (p.Glu233Val)
c.2969A>T (p.Glu990Val)
c.2678A>T (p.Glu893Val)
c.2828A>T (p.Glu943Val)
c.207A>T
c.3203A>T (p.Glu1068Val)
c.3167A>T (p.Glu1056Val)
c.3257A>T (p.Glu1086Val)
c.3221A>T (p.Glu1074Val)
c.3197A>T (p.Glu1066Val)
c.3143A>T (p.Glu1048Val)
c.3083A>T (p.Glu1028Val)
c.3149A>T (p.Glu1050Val)
c.3113A>T (p.Glu1038Val)
c.3068A>T (p.Glu1023Val)
c.3041A>T (p.Glu1014Val)
c.3005A>T (p.Glu1002Val)
c.3029A>T (p.Glu1010Val)
c.2858A>T (p.Glu953Val)
c.2870A>T (p.Glu957Val)
c.3188A>T (p.Glu1063Val)
c.3098A>T (p.Glu1033Val)
c.3074A>T (p.Glu1025Val)
c.3056A>T (p.Glu1019Val)
c.3128A>T (p.Glu1043Val)
c.2687A>T (p.Glu896Val)
c.3014A>T (p.Glu1005Val)
c.3035A>T (p.Glu1012Val)
 dbSNP
4g.113330417A>CCA357935254ANK2c.3213A>C (p.Glu1071Asp)
c.3153A>C (p.Glu1051Asp)
n.808A>C
n.6434A>C
n.3208A>C
n.787A>C
n.2184A>C
n.1452A>C
n.798A>C
n.1216A>C
n.166A>C
c.3072A>C (p.Glu1024Asp)
c.3009A>C (p.Glu1003Asp)
c.558A>C (p.Glu186Asp)
c.2985A>C (p.Glu995Asp)
c.3108A>C (p.Glu1036Asp)
c.3045A>C (p.Glu1015Asp)
c.2910A>C (p.Glu970Asp)
c.2988A>C (p.Glu996Asp)
c.2787A>C (p.Glu929Asp)
c.2886A>C (p.Glu962Asp)
c.3117A>C (p.Glu1039Asp)
c.3021A>C (p.Glu1007Asp)
c.2994A>C (p.Glu998Asp)
c.2973A>C (p.Glu991Asp)
c.2946A>C (p.Glu982Asp)
c.735A>C (p.Glu245Asp)
c.2589A>C (p.Glu863Asp)
c.699A>C (p.Glu233Asp)
c.2970A>C (p.Glu990Asp)
c.2679A>C (p.Glu893Asp)
c.2829A>C (p.Glu943Asp)
c.208A>C
c.3204A>C (p.Glu1068Asp)
c.3168A>C (p.Glu1056Asp)
c.3258A>C (p.Glu1086Asp)
c.3222A>C (p.Glu1074Asp)
c.3198A>C (p.Glu1066Asp)
c.3144A>C (p.Glu1048Asp)
c.3084A>C (p.Glu1028Asp)
c.3150A>C (p.Glu1050Asp)
c.3114A>C (p.Glu1038Asp)
c.3069A>C (p.Glu1023Asp)
c.3042A>C (p.Glu1014Asp)
c.3006A>C (p.Glu1002Asp)
c.3030A>C (p.Glu1010Asp)
c.2859A>C (p.Glu953Asp)
c.2871A>C (p.Glu957Asp)
c.3189A>C (p.Glu1063Asp)
c.3099A>C (p.Glu1033Asp)
c.3075A>C (p.Glu1025Asp)
c.3057A>C (p.Glu1019Asp)
c.3129A>C (p.Glu1043Asp)
c.2688A>C (p.Glu896Asp)
c.3015A>C (p.Glu1005Asp)
c.3036A>C (p.Glu1012Asp)
4g.113330417A>GCA440842589ANK2c.3213A>G (p.Glu1071=)
c.3153A>G (p.Glu1051=)
n.808A>G
n.6434A>G
n.3208A>G
n.787A>G
n.2184A>G
n.1452A>G
n.798A>G
n.1216A>G
n.166A>G
c.3072A>G (p.Glu1024=)
c.3009A>G (p.Glu1003=)
c.558A>G (p.Glu186=)
c.2985A>G (p.Glu995=)
c.3108A>G (p.Glu1036=)
c.3045A>G (p.Glu1015=)
c.2910A>G (p.Glu970=)
c.2988A>G (p.Glu996=)
c.2787A>G (p.Glu929=)
c.2886A>G (p.Glu962=)
c.3117A>G (p.Glu1039=)
c.3021A>G (p.Glu1007=)
c.2994A>G (p.Glu998=)
c.2973A>G (p.Glu991=)
c.2946A>G (p.Glu982=)
c.735A>G (p.Glu245=)
c.2589A>G (p.Glu863=)
c.699A>G (p.Glu233=)
c.2970A>G (p.Glu990=)
c.2679A>G (p.Glu893=)
c.2829A>G (p.Glu943=)
c.208A>G
c.3204A>G (p.Glu1068=)
c.3168A>G (p.Glu1056=)
c.3258A>G (p.Glu1086=)
c.3222A>G (p.Glu1074=)
c.3198A>G (p.Glu1066=)
c.3144A>G (p.Glu1048=)
c.3084A>G (p.Glu1028=)
c.3150A>G (p.Glu1050=)
c.3114A>G (p.Glu1038=)
c.3069A>G (p.Glu1023=)
c.3042A>G (p.Glu1014=)
c.3006A>G (p.Glu1002=)
c.3030A>G (p.Glu1010=)
c.2859A>G (p.Glu953=)
c.2871A>G (p.Glu957=)
c.3189A>G (p.Glu1063=)
c.3099A>G (p.Glu1033=)
c.3075A>G (p.Glu1025=)
c.3057A>G (p.Glu1019=)
c.3129A>G (p.Glu1043=)
c.2688A>G (p.Glu896=)
c.3015A>G (p.Glu1005=)
c.3036A>G (p.Glu1012=)
 dbSNP
4g.113330417A>TCA357935255ANK2c.3213A>T (p.Glu1071Asp)
c.3153A>T (p.Glu1051Asp)
n.808A>T
n.6434A>T
n.3208A>T
n.787A>T
n.2184A>T
n.1452A>T
n.798A>T
n.1216A>T
n.166A>T
c.3072A>T (p.Glu1024Asp)
c.3009A>T (p.Glu1003Asp)
c.558A>T (p.Glu186Asp)
c.2985A>T (p.Glu995Asp)
c.3108A>T (p.Glu1036Asp)
c.3045A>T (p.Glu1015Asp)
c.2910A>T (p.Glu970Asp)
c.2988A>T (p.Glu996Asp)
c.2787A>T (p.Glu929Asp)
c.2886A>T (p.Glu962Asp)
c.3117A>T (p.Glu1039Asp)
c.3021A>T (p.Glu1007Asp)
c.2994A>T (p.Glu998Asp)
c.2973A>T (p.Glu991Asp)
c.2946A>T (p.Glu982Asp)
c.735A>T (p.Glu245Asp)
c.2589A>T (p.Glu863Asp)
c.699A>T (p.Glu233Asp)
c.2970A>T (p.Glu990Asp)
c.2679A>T (p.Glu893Asp)
c.2829A>T (p.Glu943Asp)
c.208A>T
c.3204A>T (p.Glu1068Asp)
c.3168A>T (p.Glu1056Asp)
c.3258A>T (p.Glu1086Asp)
c.3222A>T (p.Glu1074Asp)
c.3198A>T (p.Glu1066Asp)
c.3144A>T (p.Glu1048Asp)
c.3084A>T (p.Glu1028Asp)
c.3150A>T (p.Glu1050Asp)
c.3114A>T (p.Glu1038Asp)
c.3069A>T (p.Glu1023Asp)
c.3042A>T (p.Glu1014Asp)
c.3006A>T (p.Glu1002Asp)
c.3030A>T (p.Glu1010Asp)
c.2859A>T (p.Glu953Asp)
c.2871A>T (p.Glu957Asp)
c.3189A>T (p.Glu1063Asp)
c.3099A>T (p.Glu1033Asp)
c.3075A>T (p.Glu1025Asp)
c.3057A>T (p.Glu1019Asp)
c.3129A>T (p.Glu1043Asp)
c.2688A>T (p.Glu896Asp)
c.3015A>T (p.Glu1005Asp)
c.3036A>T (p.Glu1012Asp)
 dbSNP
4g.113330418G>ACA357935256ANK2c.3214G>A (p.Gly1072Ser)
c.3154G>A (p.Gly1052Ser)
n.809G>A
n.6435G>A
n.3209G>A
n.788G>A
n.2185G>A
n.1453G>A
n.799G>A
n.1217G>A
n.167G>A
c.3073G>A (p.Gly1025Ser)
c.3010G>A (p.Gly1004Ser)
c.559G>A (p.Gly187Ser)
c.2986G>A (p.Gly996Ser)
c.3109G>A (p.Gly1037Ser)
c.3046G>A (p.Gly1016Ser)
c.2911G>A (p.Gly971Ser)
c.2989G>A (p.Gly997Ser)
c.2788G>A (p.Gly930Ser)
c.2887G>A (p.Gly963Ser)
c.3118G>A (p.Gly1040Ser)
c.3022G>A (p.Gly1008Ser)
c.2995G>A (p.Gly999Ser)
c.2974G>A (p.Gly992Ser)
c.2947G>A (p.Gly983Ser)
c.736G>A (p.Gly246Ser)
c.2590G>A (p.Gly864Ser)
c.700G>A (p.Gly234Ser)
c.2971G>A (p.Gly991Ser)
c.2680G>A (p.Gly894Ser)
c.2830G>A (p.Gly944Ser)
c.209G>A
c.3205G>A (p.Gly1069Ser)
c.3169G>A (p.Gly1057Ser)
c.3259G>A (p.Gly1087Ser)
c.3223G>A (p.Gly1075Ser)
c.3199G>A (p.Gly1067Ser)
c.3145G>A (p.Gly1049Ser)
c.3085G>A (p.Gly1029Ser)
c.3151G>A (p.Gly1051Ser)
c.3115G>A (p.Gly1039Ser)
c.3070G>A (p.Gly1024Ser)
c.3043G>A (p.Gly1015Ser)
c.3007G>A (p.Gly1003Ser)
c.3031G>A (p.Gly1011Ser)
c.2860G>A (p.Gly954Ser)
c.2872G>A (p.Gly958Ser)
c.3190G>A (p.Gly1064Ser)
c.3100G>A (p.Gly1034Ser)
c.3076G>A (p.Gly1026Ser)
c.3058G>A (p.Gly1020Ser)
c.3130G>A (p.Gly1044Ser)
c.2689G>A (p.Gly897Ser)
c.3016G>A (p.Gly1006Ser)
c.3037G>A (p.Gly1013Ser)
 dbSNP COSMIC COSMIC
4g.113330418G>CCA357935257ANK2c.3214G>C (p.Gly1072Arg)
c.3154G>C (p.Gly1052Arg)
n.809G>C
n.6435G>C
n.3209G>C
n.788G>C
n.2185G>C
n.1453G>C
n.799G>C
n.1217G>C
n.167G>C
c.3073G>C (p.Gly1025Arg)
c.3010G>C (p.Gly1004Arg)
c.559G>C (p.Gly187Arg)
c.2986G>C (p.Gly996Arg)
c.3109G>C (p.Gly1037Arg)
c.3046G>C (p.Gly1016Arg)
c.2911G>C (p.Gly971Arg)
c.2989G>C (p.Gly997Arg)
c.2788G>C (p.Gly930Arg)
c.2887G>C (p.Gly963Arg)
c.3118G>C (p.Gly1040Arg)
c.3022G>C (p.Gly1008Arg)
c.2995G>C (p.Gly999Arg)
c.2974G>C (p.Gly992Arg)
c.2947G>C (p.Gly983Arg)
c.736G>C (p.Gly246Arg)
c.2590G>C (p.Gly864Arg)
c.700G>C (p.Gly234Arg)
c.2971G>C (p.Gly991Arg)
c.2680G>C (p.Gly894Arg)
c.2830G>C (p.Gly944Arg)
c.209G>C
c.3205G>C (p.Gly1069Arg)
c.3169G>C (p.Gly1057Arg)
c.3259G>C (p.Gly1087Arg)
c.3223G>C (p.Gly1075Arg)
c.3199G>C (p.Gly1067Arg)
c.3145G>C (p.Gly1049Arg)
c.3085G>C (p.Gly1029Arg)
c.3151G>C (p.Gly1051Arg)
c.3115G>C (p.Gly1039Arg)
c.3070G>C (p.Gly1024Arg)
c.3043G>C (p.Gly1015Arg)
c.3007G>C (p.Gly1003Arg)
c.3031G>C (p.Gly1011Arg)
c.2860G>C (p.Gly954Arg)
c.2872G>C (p.Gly958Arg)
c.3190G>C (p.Gly1064Arg)
c.3100G>C (p.Gly1034Arg)
c.3076G>C (p.Gly1026Arg)
c.3058G>C (p.Gly1020Arg)
c.3130G>C (p.Gly1044Arg)
c.2689G>C (p.Gly897Arg)
c.3016G>C (p.Gly1006Arg)
c.3037G>C (p.Gly1013Arg)
 dbSNP
4g.113330418G>TCA357935258ANK2c.3214G>T (p.Gly1072Cys)
c.3154G>T (p.Gly1052Cys)
n.809G>T
n.6435G>T
n.3209G>T
n.788G>T
n.2185G>T
n.1453G>T
n.799G>T
n.1217G>T
n.167G>T
c.3073G>T (p.Gly1025Cys)
c.3010G>T (p.Gly1004Cys)
c.559G>T (p.Gly187Cys)
c.2986G>T (p.Gly996Cys)
c.3109G>T (p.Gly1037Cys)
c.3046G>T (p.Gly1016Cys)
c.2911G>T (p.Gly971Cys)
c.2989G>T (p.Gly997Cys)
c.2788G>T (p.Gly930Cys)
c.2887G>T (p.Gly963Cys)
c.3118G>T (p.Gly1040Cys)
c.3022G>T (p.Gly1008Cys)
c.2995G>T (p.Gly999Cys)
c.2974G>T (p.Gly992Cys)
c.2947G>T (p.Gly983Cys)
c.736G>T (p.Gly246Cys)
c.2590G>T (p.Gly864Cys)
c.700G>T (p.Gly234Cys)
c.2971G>T (p.Gly991Cys)
c.2680G>T (p.Gly894Cys)
c.2830G>T (p.Gly944Cys)
c.209G>T
c.3205G>T (p.Gly1069Cys)
c.3169G>T (p.Gly1057Cys)
c.3259G>T (p.Gly1087Cys)
c.3223G>T (p.Gly1075Cys)
c.3199G>T (p.Gly1067Cys)
c.3145G>T (p.Gly1049Cys)
c.3085G>T (p.Gly1029Cys)
c.3151G>T (p.Gly1051Cys)
c.3115G>T (p.Gly1039Cys)
c.3070G>T (p.Gly1024Cys)
c.3043G>T (p.Gly1015Cys)
c.3007G>T (p.Gly1003Cys)
c.3031G>T (p.Gly1011Cys)
c.2860G>T (p.Gly954Cys)
c.2872G>T (p.Gly958Cys)
c.3190G>T (p.Gly1064Cys)
c.3100G>T (p.Gly1034Cys)
c.3076G>T (p.Gly1026Cys)
c.3058G>T (p.Gly1020Cys)
c.3130G>T (p.Gly1044Cys)
c.2689G>T (p.Gly897Cys)
c.3016G>T (p.Gly1006Cys)
c.3037G>T (p.Gly1013Cys)
 gnomAD v4
4g.113330419_113330439delCA2578172110ANK2c.3215_3235del (p.Gly1072_Ile1078del)
c.3155_3175del (p.Gly1052_Ile1058del)
n.810_830del
n.6436_6456del
n.3210_3230del
n.789_809del
n.2186_2206del
n.1454_1474del
n.800_820del
n.1218_1238del
n.168_188del
c.3074_3094del (p.Gly1025_Ile1031del)
c.3011_3031del (p.Gly1004_Ile1010del)
c.560_580del (p.Gly187_Ile193del)
c.2987_3007del (p.Gly996_Ile1002del)
c.3110_3130del (p.Gly1037_Ile1043del)
c.3047_3067del (p.Gly1016_Ile1022del)
c.2912_2932del (p.Gly971_Ile977del)
c.2990_3010del (p.Gly997_Ile1003del)
c.2789_2809del (p.Gly930_Ile936del)
c.2888_2908del (p.Gly963_Ile969del)
c.3119_3139del (p.Gly1040_Ile1046del)
c.3023_3043del (p.Gly1008_Ile1014del)
c.2996_3016del (p.Gly999_Ile1005del)
c.2975_2995del (p.Gly992_Ile998del)
c.2948_2968del (p.Gly983_Ile989del)
c.737_757del (p.Gly246_Ile252del)
c.2591_2611del (p.Gly864_Ile870del)
c.701_721del (p.Gly234_Ile240del)
c.2972_2992del (p.Gly991_Ile997del)
c.2681_2701del (p.Gly894_Ile900del)
c.2831_2851del (p.Gly944_Ile950del)
c.210_230del
c.3206_3226del (p.Gly1069_Ile1075del)
c.3170_3190del (p.Gly1057_Ile1063del)
c.3260_3280del (p.Gly1087_Ile1093del)
c.3224_3244del (p.Gly1075_Ile1081del)
c.3200_3220del (p.Gly1067_Ile1073del)
c.3146_3166del (p.Gly1049_Ile1055del)
c.3086_3106del (p.Gly1029_Ile1035del)
c.3152_3172del (p.Gly1051_Ile1057del)
c.3116_3136del (p.Gly1039_Ile1045del)
c.3071_3091del (p.Gly1024_Ile1030del)
c.3044_3064del (p.Gly1015_Ile1021del)
c.3008_3028del (p.Gly1003_Ile1009del)
c.3032_3052del (p.Gly1011_Ile1017del)
c.2861_2881del (p.Gly954_Ile960del)
c.2873_2893del (p.Gly958_Ile964del)
c.3191_3211del (p.Gly1064_Ile1070del)
c.3101_3121del (p.Gly1034_Ile1040del)
c.3077_3097del (p.Gly1026_Ile1032del)
c.3059_3079del (p.Gly1020_Ile1026del)
c.3131_3151del (p.Gly1044_Ile1050del)
c.2690_2710del (p.Gly897_Ile903del)
c.3017_3037del (p.Gly1006_Ile1012del)
c.3038_3058del (p.Gly1013_Ile1019del)
4g.113330419G>ACA357935259ANK2c.3215G>A (p.Gly1072Asp)
c.3155G>A (p.Gly1052Asp)
n.810G>A
n.6436G>A
n.3210G>A
n.789G>A
n.2186G>A
n.1454G>A
n.800G>A
n.1218G>A
n.168G>A
c.3074G>A (p.Gly1025Asp)
c.3011G>A (p.Gly1004Asp)
c.560G>A (p.Gly187Asp)
c.2987G>A (p.Gly996Asp)
c.3110G>A (p.Gly1037Asp)
c.3047G>A (p.Gly1016Asp)
c.2912G>A (p.Gly971Asp)
c.2990G>A (p.Gly997Asp)
c.2789G>A (p.Gly930Asp)
c.2888G>A (p.Gly963Asp)
c.3119G>A (p.Gly1040Asp)
c.3023G>A (p.Gly1008Asp)
c.2996G>A (p.Gly999Asp)
c.2975G>A (p.Gly992Asp)
c.2948G>A (p.Gly983Asp)
c.737G>A (p.Gly246Asp)
c.2591G>A (p.Gly864Asp)
c.701G>A (p.Gly234Asp)
c.2972G>A (p.Gly991Asp)
c.2681G>A (p.Gly894Asp)
c.2831G>A (p.Gly944Asp)
c.210G>A
c.3206G>A (p.Gly1069Asp)
c.3170G>A (p.Gly1057Asp)
c.3260G>A (p.Gly1087Asp)
c.3224G>A (p.Gly1075Asp)
c.3200G>A (p.Gly1067Asp)
c.3146G>A (p.Gly1049Asp)
c.3086G>A (p.Gly1029Asp)
c.3152G>A (p.Gly1051Asp)
c.3116G>A (p.Gly1039Asp)
c.3071G>A (p.Gly1024Asp)
c.3044G>A (p.Gly1015Asp)
c.3008G>A (p.Gly1003Asp)
c.3032G>A (p.Gly1011Asp)
c.2861G>A (p.Gly954Asp)
c.2873G>A (p.Gly958Asp)
c.3191G>A (p.Gly1064Asp)
c.3101G>A (p.Gly1034Asp)
c.3077G>A (p.Gly1026Asp)
c.3059G>A (p.Gly1020Asp)
c.3131G>A (p.Gly1044Asp)
c.2690G>A (p.Gly897Asp)
c.3017G>A (p.Gly1006Asp)
c.3038G>A (p.Gly1013Asp)
 dbSNP
4g.113330419G>CCA300868ANK2c.3215G>C (p.Gly1072Ala)
c.3155G>C (p.Gly1052Ala)
n.810G>C
n.6436G>C
n.3210G>C
n.789G>C
n.2186G>C
n.1454G>C
n.800G>C
n.1218G>C
n.168G>C
c.3074G>C (p.Gly1025Ala)
c.3011G>C (p.Gly1004Ala)
c.560G>C (p.Gly187Ala)
c.2987G>C (p.Gly996Ala)
c.3110G>C (p.Gly1037Ala)
c.3047G>C (p.Gly1016Ala)
c.2912G>C (p.Gly971Ala)
c.2990G>C (p.Gly997Ala)
c.2789G>C (p.Gly930Ala)
c.2888G>C (p.Gly963Ala)
c.3119G>C (p.Gly1040Ala)
c.3023G>C (p.Gly1008Ala)
c.2996G>C (p.Gly999Ala)
c.2975G>C (p.Gly992Ala)
c.2948G>C (p.Gly983Ala)
c.737G>C (p.Gly246Ala)
c.2591G>C (p.Gly864Ala)
c.701G>C (p.Gly234Ala)
c.2972G>C (p.Gly991Ala)
c.2681G>C (p.Gly894Ala)
c.2831G>C (p.Gly944Ala)
c.210G>C
c.3206G>C (p.Gly1069Ala)
c.3170G>C (p.Gly1057Ala)
c.3260G>C (p.Gly1087Ala)
c.3224G>C (p.Gly1075Ala)
c.3200G>C (p.Gly1067Ala)
c.3146G>C (p.Gly1049Ala)
c.3086G>C (p.Gly1029Ala)
c.3152G>C (p.Gly1051Ala)
c.3116G>C (p.Gly1039Ala)
c.3071G>C (p.Gly1024Ala)
c.3044G>C (p.Gly1015Ala)
c.3008G>C (p.Gly1003Ala)
c.3032G>C (p.Gly1011Ala)
c.2861G>C (p.Gly954Ala)
c.2873G>C (p.Gly958Ala)
c.3191G>C (p.Gly1064Ala)
c.3101G>C (p.Gly1034Ala)
c.3077G>C (p.Gly1026Ala)
c.3059G>C (p.Gly1020Ala)
c.3131G>C (p.Gly1044Ala)
c.2690G>C (p.Gly897Ala)
c.3017G>C (p.Gly1006Ala)
c.3038G>C (p.Gly1013Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.113330419G>TCA3050762ANK2c.3215G>T (p.Gly1072Val)
c.3155G>T (p.Gly1052Val)
n.810G>T
n.6436G>T
n.3210G>T
n.789G>T
n.2186G>T
n.1454G>T
n.800G>T
n.1218G>T
n.168G>T
c.3074G>T (p.Gly1025Val)
c.3011G>T (p.Gly1004Val)
c.560G>T (p.Gly187Val)
c.2987G>T (p.Gly996Val)
c.3110G>T (p.Gly1037Val)
c.3047G>T (p.Gly1016Val)
c.2912G>T (p.Gly971Val)
c.2990G>T (p.Gly997Val)
c.2789G>T (p.Gly930Val)
c.2888G>T (p.Gly963Val)
c.3119G>T (p.Gly1040Val)
c.3023G>T (p.Gly1008Val)
c.2996G>T (p.Gly999Val)
c.2975G>T (p.Gly992Val)
c.2948G>T (p.Gly983Val)
c.737G>T (p.Gly246Val)
c.2591G>T (p.Gly864Val)
c.701G>T (p.Gly234Val)
c.2972G>T (p.Gly991Val)
c.2681G>T (p.Gly894Val)
c.2831G>T (p.Gly944Val)
c.210G>T
c.3206G>T (p.Gly1069Val)
c.3170G>T (p.Gly1057Val)
c.3260G>T (p.Gly1087Val)
c.3224G>T (p.Gly1075Val)
c.3200G>T (p.Gly1067Val)
c.3146G>T (p.Gly1049Val)
c.3086G>T (p.Gly1029Val)
c.3152G>T (p.Gly1051Val)
c.3116G>T (p.Gly1039Val)
c.3071G>T (p.Gly1024Val)
c.3044G>T (p.Gly1015Val)
c.3008G>T (p.Gly1003Val)
c.3032G>T (p.Gly1011Val)
c.2861G>T (p.Gly954Val)
c.2873G>T (p.Gly958Val)
c.3191G>T (p.Gly1064Val)
c.3101G>T (p.Gly1034Val)
c.3077G>T (p.Gly1026Val)
c.3059G>T (p.Gly1020Val)
c.3131G>T (p.Gly1044Val)
c.2690G>T (p.Gly897Val)
c.3017G>T (p.Gly1006Val)
c.3038G>T (p.Gly1013Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.113330420C>ACA440842590ANK2c.3216C>A (p.Gly1072=)
c.3156C>A (p.Gly1052=)
n.811C>A
n.6437C>A
n.3211C>A
n.790C>A
n.2187C>A
n.1455C>A
n.801C>A
n.1219C>A
n.169C>A
c.3075C>A (p.Gly1025=)
c.3012C>A (p.Gly1004=)
c.561C>A (p.Gly187=)
c.2988C>A (p.Gly996=)
c.3111C>A (p.Gly1037=)
c.3048C>A (p.Gly1016=)
c.2913C>A (p.Gly971=)
c.2991C>A (p.Gly997=)
c.2790C>A (p.Gly930=)
c.2889C>A (p.Gly963=)
c.3120C>A (p.Gly1040=)
c.3024C>A (p.Gly1008=)
c.2997C>A (p.Gly999=)
c.2976C>A (p.Gly992=)
c.2949C>A (p.Gly983=)
c.738C>A (p.Gly246=)
c.2592C>A (p.Gly864=)
c.702C>A (p.Gly234=)
c.2973C>A (p.Gly991=)
c.2682C>A (p.Gly894=)
c.2832C>A (p.Gly944=)
c.211C>A
c.3207C>A (p.Gly1069=)
c.3171C>A (p.Gly1057=)
c.3261C>A (p.Gly1087=)
c.3225C>A (p.Gly1075=)
c.3201C>A (p.Gly1067=)
c.3147C>A (p.Gly1049=)
c.3087C>A (p.Gly1029=)
c.3153C>A (p.Gly1051=)
c.3117C>A (p.Gly1039=)
c.3072C>A (p.Gly1024=)
c.3045C>A (p.Gly1015=)
c.3009C>A (p.Gly1003=)
c.3033C>A (p.Gly1011=)
c.2862C>A (p.Gly954=)
c.2874C>A (p.Gly958=)
c.3192C>A (p.Gly1064=)
c.3102C>A (p.Gly1034=)
c.3078C>A (p.Gly1026=)
c.3060C>A (p.Gly1020=)
c.3132C>A (p.Gly1044=)
c.2691C>A (p.Gly897=)
c.3018C>A (p.Gly1006=)
c.3039C>A (p.Gly1013=)
 dbSNP
4g.113330420C>GCA440842591ANK2c.3216C>G (p.Gly1072=)
c.3156C>G (p.Gly1052=)
n.811C>G
n.6437C>G
n.3211C>G
n.790C>G
n.2187C>G
n.1455C>G
n.801C>G
n.1219C>G
n.169C>G
c.3075C>G (p.Gly1025=)
c.3012C>G (p.Gly1004=)
c.561C>G (p.Gly187=)
c.2988C>G (p.Gly996=)
c.3111C>G (p.Gly1037=)
c.3048C>G (p.Gly1016=)
c.2913C>G (p.Gly971=)
c.2991C>G (p.Gly997=)
c.2790C>G (p.Gly930=)
c.2889C>G (p.Gly963=)
c.3120C>G (p.Gly1040=)
c.3024C>G (p.Gly1008=)
c.2997C>G (p.Gly999=)
c.2976C>G (p.Gly992=)
c.2949C>G (p.Gly983=)
c.738C>G (p.Gly246=)
c.2592C>G (p.Gly864=)
c.702C>G (p.Gly234=)
c.2973C>G (p.Gly991=)
c.2682C>G (p.Gly894=)
c.2832C>G (p.Gly944=)
c.211C>G
c.3207C>G (p.Gly1069=)
c.3171C>G (p.Gly1057=)
c.3261C>G (p.Gly1087=)
c.3225C>G (p.Gly1075=)
c.3201C>G (p.Gly1067=)
c.3147C>G (p.Gly1049=)
c.3087C>G (p.Gly1029=)
c.3153C>G (p.Gly1051=)
c.3117C>G (p.Gly1039=)
c.3072C>G (p.Gly1024=)
c.3045C>G (p.Gly1015=)
c.3009C>G (p.Gly1003=)
c.3033C>G (p.Gly1011=)
c.2862C>G (p.Gly954=)
c.2874C>G (p.Gly958=)
c.3192C>G (p.Gly1064=)
c.3102C>G (p.Gly1034=)
c.3078C>G (p.Gly1026=)
c.3060C>G (p.Gly1020=)
c.3132C>G (p.Gly1044=)
c.2691C>G (p.Gly897=)
c.3018C>G (p.Gly1006=)
c.3039C>G (p.Gly1013=)
 dbSNP
4g.113330420C>TCA3050763ANK2c.3216C>T (p.Gly1072=)
c.3156C>T (p.Gly1052=)
n.811C>T
n.6437C>T
n.3211C>T
n.790C>T
n.2187C>T
n.1455C>T
n.801C>T
n.1219C>T
n.169C>T
c.3075C>T (p.Gly1025=)
c.3012C>T (p.Gly1004=)
c.561C>T (p.Gly187=)
c.2988C>T (p.Gly996=)
c.3111C>T (p.Gly1037=)
c.3048C>T (p.Gly1016=)
c.2913C>T (p.Gly971=)
c.2991C>T (p.Gly997=)
c.2790C>T (p.Gly930=)
c.2889C>T (p.Gly963=)
c.3120C>T (p.Gly1040=)
c.3024C>T (p.Gly1008=)
c.2997C>T (p.Gly999=)
c.2976C>T (p.Gly992=)
c.2949C>T (p.Gly983=)
c.738C>T (p.Gly246=)
c.2592C>T (p.Gly864=)
c.702C>T (p.Gly234=)
c.2973C>T (p.Gly991=)
c.2682C>T (p.Gly894=)
c.2832C>T (p.Gly944=)
c.211C>T
c.3207C>T (p.Gly1069=)
c.3171C>T (p.Gly1057=)
c.3261C>T (p.Gly1087=)
c.3225C>T (p.Gly1075=)
c.3201C>T (p.Gly1067=)
c.3147C>T (p.Gly1049=)
c.3087C>T (p.Gly1029=)
c.3153C>T (p.Gly1051=)
c.3117C>T (p.Gly1039=)
c.3072C>T (p.Gly1024=)
c.3045C>T (p.Gly1015=)
c.3009C>T (p.Gly1003=)
c.3033C>T (p.Gly1011=)
c.2862C>T (p.Gly954=)
c.2874C>T (p.Gly958=)
c.3192C>T (p.Gly1064=)
c.3102C>T (p.Gly1034=)
c.3078C>T (p.Gly1026=)
c.3060C>T (p.Gly1020=)
c.3132C>T (p.Gly1044=)
c.2691C>T (p.Gly897=)
c.3018C>T (p.Gly1006=)
c.3039C>T (p.Gly1013=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
4g.113330421C>ACA357935260ANK2c.3217C>A (p.Leu1073Met)
c.3157C>A (p.Leu1053Met)
n.812C>A
n.6438C>A
n.3212C>A
n.791C>A
n.2188C>A
n.1456C>A
n.802C>A
n.1220C>A
n.170C>A
c.3076C>A (p.Leu1026Met)
c.3013C>A (p.Leu1005Met)
c.562C>A (p.Leu188Met)
c.2989C>A (p.Leu997Met)
c.3112C>A (p.Leu1038Met)
c.3049C>A (p.Leu1017Met)
c.2914C>A (p.Leu972Met)
c.2992C>A (p.Leu998Met)
c.2791C>A (p.Leu931Met)
c.2890C>A (p.Leu964Met)
c.3121C>A (p.Leu1041Met)
c.3025C>A (p.Leu1009Met)
c.2998C>A (p.Leu1000Met)
c.2977C>A (p.Leu993Met)
c.2950C>A (p.Leu984Met)
c.739C>A (p.Leu247Met)
c.2593C>A (p.Leu865Met)
c.703C>A (p.Leu235Met)
c.2974C>A (p.Leu992Met)
c.2683C>A (p.Leu895Met)
c.2833C>A (p.Leu945Met)
c.212C>A
c.3208C>A (p.Leu1070Met)
c.3172C>A (p.Leu1058Met)
c.3262C>A (p.Leu1088Met)
c.3226C>A (p.Leu1076Met)
c.3202C>A (p.Leu1068Met)
c.3148C>A (p.Leu1050Met)
c.3088C>A (p.Leu1030Met)
c.3154C>A (p.Leu1052Met)
c.3118C>A (p.Leu1040Met)
c.3073C>A (p.Leu1025Met)
c.3046C>A (p.Leu1016Met)
c.3010C>A (p.Leu1004Met)
c.3034C>A (p.Leu1012Met)
c.2863C>A (p.Leu955Met)
c.2875C>A (p.Leu959Met)
c.3193C>A (p.Leu1065Met)
c.3103C>A (p.Leu1035Met)
c.3079C>A (p.Leu1027Met)
c.3061C>A (p.Leu1021Met)
c.3133C>A (p.Leu1045Met)
c.2692C>A (p.Leu898Met)
c.3019C>A (p.Leu1007Met)
c.3040C>A (p.Leu1014Met)
4g.113330421C>GCA357935261ANK2c.3217C>G (p.Leu1073Val)
c.3157C>G (p.Leu1053Val)
n.812C>G
n.6438C>G
n.3212C>G
n.791C>G
n.2188C>G
n.1456C>G
n.802C>G
n.1220C>G
n.170C>G
c.3076C>G (p.Leu1026Val)
c.3013C>G (p.Leu1005Val)
c.562C>G (p.Leu188Val)
c.2989C>G (p.Leu997Val)
c.3112C>G (p.Leu1038Val)
c.3049C>G (p.Leu1017Val)
c.2914C>G (p.Leu972Val)
c.2992C>G (p.Leu998Val)
c.2791C>G (p.Leu931Val)
c.2890C>G (p.Leu964Val)
c.3121C>G (p.Leu1041Val)
c.3025C>G (p.Leu1009Val)
c.2998C>G (p.Leu1000Val)
c.2977C>G (p.Leu993Val)
c.2950C>G (p.Leu984Val)
c.739C>G (p.Leu247Val)
c.2593C>G (p.Leu865Val)
c.703C>G (p.Leu235Val)
c.2974C>G (p.Leu992Val)
c.2683C>G (p.Leu895Val)
c.2833C>G (p.Leu945Val)
c.212C>G
c.3208C>G (p.Leu1070Val)
c.3172C>G (p.Leu1058Val)
c.3262C>G (p.Leu1088Val)
c.3226C>G (p.Leu1076Val)
c.3202C>G (p.Leu1068Val)
c.3148C>G (p.Leu1050Val)
c.3088C>G (p.Leu1030Val)
c.3154C>G (p.Leu1052Val)
c.3118C>G (p.Leu1040Val)
c.3073C>G (p.Leu1025Val)
c.3046C>G (p.Leu1016Val)
c.3010C>G (p.Leu1004Val)
c.3034C>G (p.Leu1012Val)
c.2863C>G (p.Leu955Val)
c.2875C>G (p.Leu959Val)
c.3193C>G (p.Leu1065Val)
c.3103C>G (p.Leu1035Val)
c.3079C>G (p.Leu1027Val)
c.3061C>G (p.Leu1021Val)
c.3133C>G (p.Leu1045Val)
c.2692C>G (p.Leu898Val)
c.3019C>G (p.Leu1007Val)
c.3040C>G (p.Leu1014Val)
 dbSNP
4g.113330421C>TCA440842592ANK2c.3217C>T (p.Leu1073=)
c.3157C>T (p.Leu1053=)
n.812C>T
n.6438C>T
n.3212C>T
n.791C>T
n.2188C>T
n.1456C>T
n.802C>T
n.1220C>T
n.170C>T
c.3076C>T (p.Leu1026=)
c.3013C>T (p.Leu1005=)
c.562C>T (p.Leu188=)
c.2989C>T (p.Leu997=)
c.3112C>T (p.Leu1038=)
c.3049C>T (p.Leu1017=)
c.2914C>T (p.Leu972=)
c.2992C>T (p.Leu998=)
c.2791C>T (p.Leu931=)
c.2890C>T (p.Leu964=)
c.3121C>T (p.Leu1041=)
c.3025C>T (p.Leu1009=)
c.2998C>T (p.Leu1000=)
c.2977C>T (p.Leu993=)
c.2950C>T (p.Leu984=)
c.739C>T (p.Leu247=)
c.2593C>T (p.Leu865=)
c.703C>T (p.Leu235=)
c.2974C>T (p.Leu992=)
c.2683C>T (p.Leu895=)
c.2833C>T (p.Leu945=)
c.212C>T
c.3208C>T (p.Leu1070=)
c.3172C>T (p.Leu1058=)
c.3262C>T (p.Leu1088=)
c.3226C>T (p.Leu1076=)
c.3202C>T (p.Leu1068=)
c.3148C>T (p.Leu1050=)
c.3088C>T (p.Leu1030=)
c.3154C>T (p.Leu1052=)
c.3118C>T (p.Leu1040=)
c.3073C>T (p.Leu1025=)
c.3046C>T (p.Leu1016=)
c.3010C>T (p.Leu1004=)
c.3034C>T (p.Leu1012=)
c.2863C>T (p.Leu955=)
c.2875C>T (p.Leu959=)
c.3193C>T (p.Leu1065=)
c.3103C>T (p.Leu1035=)
c.3079C>T (p.Leu1027=)
c.3061C>T (p.Leu1021=)
c.3133C>T (p.Leu1045=)
c.2692C>T (p.Leu898=)
c.3019C>T (p.Leu1007=)
c.3040C>T (p.Leu1014=)
 dbSNP
4g.113330422T>ACA357935262ANK2c.3218T>A (p.Leu1073Gln)
c.3158T>A (p.Leu1053Gln)
n.813T>A
n.6439T>A
n.3213T>A
n.792T>A
n.2189T>A
n.1457T>A
n.803T>A
n.1221T>A
n.171T>A
c.3077T>A (p.Leu1026Gln)
c.3014T>A (p.Leu1005Gln)
c.563T>A (p.Leu188Gln)
c.2990T>A (p.Leu997Gln)
c.3113T>A (p.Leu1038Gln)
c.3050T>A (p.Leu1017Gln)
c.2915T>A (p.Leu972Gln)
c.2993T>A (p.Leu998Gln)
c.2792T>A (p.Leu931Gln)
c.2891T>A (p.Leu964Gln)
c.3122T>A (p.Leu1041Gln)
c.3026T>A (p.Leu1009Gln)
c.2999T>A (p.Leu1000Gln)
c.2978T>A (p.Leu993Gln)
c.2951T>A (p.Leu984Gln)
c.740T>A (p.Leu247Gln)
c.2594T>A (p.Leu865Gln)
c.704T>A (p.Leu235Gln)
c.2975T>A (p.Leu992Gln)
c.2684T>A (p.Leu895Gln)
c.2834T>A (p.Leu945Gln)
c.213T>A
c.3209T>A (p.Leu1070Gln)
c.3173T>A (p.Leu1058Gln)
c.3263T>A (p.Leu1088Gln)
c.3227T>A (p.Leu1076Gln)
c.3203T>A (p.Leu1068Gln)
c.3149T>A (p.Leu1050Gln)
c.3089T>A (p.Leu1030Gln)
c.3155T>A (p.Leu1052Gln)
c.3119T>A (p.Leu1040Gln)
c.3074T>A (p.Leu1025Gln)
c.3047T>A (p.Leu1016Gln)
c.3011T>A (p.Leu1004Gln)
c.3035T>A (p.Leu1012Gln)
c.2864T>A (p.Leu955Gln)
c.2876T>A (p.Leu959Gln)
c.3194T>A (p.Leu1065Gln)
c.3104T>A (p.Leu1035Gln)
c.3080T>A (p.Leu1027Gln)
c.3062T>A (p.Leu1021Gln)
c.3134T>A (p.Leu1045Gln)
c.2693T>A (p.Leu898Gln)
c.3020T>A (p.Leu1007Gln)
c.3041T>A (p.Leu1014Gln)
4g.113330422T>CCA357935263ANK2c.3218T>C (p.Leu1073Pro)
c.3158T>C (p.Leu1053Pro)
n.813T>C
n.6439T>C
n.3213T>C
n.792T>C
n.2189T>C
n.1457T>C
n.803T>C
n.1221T>C
n.171T>C
c.3077T>C (p.Leu1026Pro)
c.3014T>C (p.Leu1005Pro)
c.563T>C (p.Leu188Pro)
c.2990T>C (p.Leu997Pro)
c.3113T>C (p.Leu1038Pro)
c.3050T>C (p.Leu1017Pro)
c.2915T>C (p.Leu972Pro)
c.2993T>C (p.Leu998Pro)
c.2792T>C (p.Leu931Pro)
c.2891T>C (p.Leu964Pro)
c.3122T>C (p.Leu1041Pro)
c.3026T>C (p.Leu1009Pro)
c.2999T>C (p.Leu1000Pro)
c.2978T>C (p.Leu993Pro)
c.2951T>C (p.Leu984Pro)
c.740T>C (p.Leu247Pro)
c.2594T>C (p.Leu865Pro)
c.704T>C (p.Leu235Pro)
c.2975T>C (p.Leu992Pro)
c.2684T>C (p.Leu895Pro)
c.2834T>C (p.Leu945Pro)
c.213T>C
c.3209T>C (p.Leu1070Pro)
c.3173T>C (p.Leu1058Pro)
c.3263T>C (p.Leu1088Pro)
c.3227T>C (p.Leu1076Pro)
c.3203T>C (p.Leu1068Pro)
c.3149T>C (p.Leu1050Pro)
c.3089T>C (p.Leu1030Pro)
c.3155T>C (p.Leu1052Pro)
c.3119T>C (p.Leu1040Pro)
c.3074T>C (p.Leu1025Pro)
c.3047T>C (p.Leu1016Pro)
c.3011T>C (p.Leu1004Pro)
c.3035T>C (p.Leu1012Pro)
c.2864T>C (p.Leu955Pro)
c.2876T>C (p.Leu959Pro)
c.3194T>C (p.Leu1065Pro)
c.3104T>C (p.Leu1035Pro)
c.3080T>C (p.Leu1027Pro)
c.3062T>C (p.Leu1021Pro)
c.3134T>C (p.Leu1045Pro)
c.2693T>C (p.Leu898Pro)
c.3020T>C (p.Leu1007Pro)
c.3041T>C (p.Leu1014Pro)
4g.113330422T>GCA357935264ANK2c.3218T>G (p.Leu1073Arg)
c.3158T>G (p.Leu1053Arg)
n.813T>G
n.6439T>G
n.3213T>G
n.792T>G
n.2189T>G
n.1457T>G
n.803T>G
n.1221T>G
n.171T>G
c.3077T>G (p.Leu1026Arg)
c.3014T>G (p.Leu1005Arg)
c.563T>G (p.Leu188Arg)
c.2990T>G (p.Leu997Arg)
c.3113T>G (p.Leu1038Arg)
c.3050T>G (p.Leu1017Arg)
c.2915T>G (p.Leu972Arg)
c.2993T>G (p.Leu998Arg)
c.2792T>G (p.Leu931Arg)
c.2891T>G (p.Leu964Arg)
c.3122T>G (p.Leu1041Arg)
c.3026T>G (p.Leu1009Arg)
c.2999T>G (p.Leu1000Arg)
c.2978T>G (p.Leu993Arg)
c.2951T>G (p.Leu984Arg)
c.740T>G (p.Leu247Arg)
c.2594T>G (p.Leu865Arg)
c.704T>G (p.Leu235Arg)
c.2975T>G (p.Leu992Arg)
c.2684T>G (p.Leu895Arg)
c.2834T>G (p.Leu945Arg)
c.213T>G
c.3209T>G (p.Leu1070Arg)
c.3173T>G (p.Leu1058Arg)
c.3263T>G (p.Leu1088Arg)
c.3227T>G (p.Leu1076Arg)
c.3203T>G (p.Leu1068Arg)
c.3149T>G (p.Leu1050Arg)
c.3089T>G (p.Leu1030Arg)
c.3155T>G (p.Leu1052Arg)
c.3119T>G (p.Leu1040Arg)
c.3074T>G (p.Leu1025Arg)
c.3047T>G (p.Leu1016Arg)
c.3011T>G (p.Leu1004Arg)
c.3035T>G (p.Leu1012Arg)
c.2864T>G (p.Leu955Arg)
c.2876T>G (p.Leu959Arg)
c.3194T>G (p.Leu1065Arg)
c.3104T>G (p.Leu1035Arg)
c.3080T>G (p.Leu1027Arg)
c.3062T>G (p.Leu1021Arg)
c.3134T>G (p.Leu1045Arg)
c.2693T>G (p.Leu898Arg)
c.3020T>G (p.Leu1007Arg)
c.3041T>G (p.Leu1014Arg)
4g.113330423G>ACA440842593ANK2c.3219G>A (p.Leu1073=)
c.3159G>A (p.Leu1053=)
n.814G>A
n.6440G>A
n.3214G>A
n.793G>A
n.2190G>A
n.1458G>A
n.804G>A
n.1222G>A
n.172G>A
c.3078G>A (p.Leu1026=)
c.3015G>A (p.Leu1005=)
c.564G>A (p.Leu188=)
c.2991G>A (p.Leu997=)
c.3114G>A (p.Leu1038=)
c.3051G>A (p.Leu1017=)
c.2916G>A (p.Leu972=)
c.2994G>A (p.Leu998=)
c.2793G>A (p.Leu931=)
c.2892G>A (p.Leu964=)
c.3123G>A (p.Leu1041=)
c.3027G>A (p.Leu1009=)
c.3000G>A (p.Leu1000=)
c.2979G>A (p.Leu993=)
c.2952G>A (p.Leu984=)
c.741G>A (p.Leu247=)
c.2595G>A (p.Leu865=)
c.705G>A (p.Leu235=)
c.2976G>A (p.Leu992=)
c.2685G>A (p.Leu895=)
c.2835G>A (p.Leu945=)
c.214G>A
c.3210G>A (p.Leu1070=)
c.3174G>A (p.Leu1058=)
c.3264G>A (p.Leu1088=)
c.3228G>A (p.Leu1076=)
c.3204G>A (p.Leu1068=)
c.3150G>A (p.Leu1050=)
c.3090G>A (p.Leu1030=)
c.3156G>A (p.Leu1052=)
c.3120G>A (p.Leu1040=)
c.3075G>A (p.Leu1025=)
c.3048G>A (p.Leu1016=)
c.3012G>A (p.Leu1004=)
c.3036G>A (p.Leu1012=)
c.2865G>A (p.Leu955=)
c.2877G>A (p.Leu959=)
c.3195G>A (p.Leu1065=)
c.3105G>A (p.Leu1035=)
c.3081G>A (p.Leu1027=)
c.3063G>A (p.Leu1021=)
c.3135G>A (p.Leu1045=)
c.2694G>A (p.Leu898=)
c.3021G>A (p.Leu1007=)
c.3042G>A (p.Leu1014=)
4g.113330423G>CCA440842594ANK2c.3219G>C (p.Leu1073=)
c.3159G>C (p.Leu1053=)
n.814G>C
n.6440G>C
n.3214G>C
n.793G>C
n.2190G>C
n.1458G>C
n.804G>C
n.1222G>C
n.172G>C
c.3078G>C (p.Leu1026=)
c.3015G>C (p.Leu1005=)
c.564G>C (p.Leu188=)
c.2991G>C (p.Leu997=)
c.3114G>C (p.Leu1038=)
c.3051G>C (p.Leu1017=)
c.2916G>C (p.Leu972=)
c.2994G>C (p.Leu998=)
c.2793G>C (p.Leu931=)
c.2892G>C (p.Leu964=)
c.3123G>C (p.Leu1041=)
c.3027G>C (p.Leu1009=)
c.3000G>C (p.Leu1000=)
c.2979G>C (p.Leu993=)
c.2952G>C (p.Leu984=)
c.741G>C (p.Leu247=)
c.2595G>C (p.Leu865=)
c.705G>C (p.Leu235=)
c.2976G>C (p.Leu992=)
c.2685G>C (p.Leu895=)
c.2835G>C (p.Leu945=)
c.214G>C
c.3210G>C (p.Leu1070=)
c.3174G>C (p.Leu1058=)
c.3264G>C (p.Leu1088=)
c.3228G>C (p.Leu1076=)
c.3204G>C (p.Leu1068=)
c.3150G>C (p.Leu1050=)
c.3090G>C (p.Leu1030=)
c.3156G>C (p.Leu1052=)
c.3120G>C (p.Leu1040=)
c.3075G>C (p.Leu1025=)
c.3048G>C (p.Leu1016=)
c.3012G>C (p.Leu1004=)
c.3036G>C (p.Leu1012=)
c.2865G>C (p.Leu955=)
c.2877G>C (p.Leu959=)
c.3195G>C (p.Leu1065=)
c.3105G>C (p.Leu1035=)
c.3081G>C (p.Leu1027=)
c.3063G>C (p.Leu1021=)
c.3135G>C (p.Leu1045=)
c.2694G>C (p.Leu898=)
c.3021G>C (p.Leu1007=)
c.3042G>C (p.Leu1014=)
 dbSNP
4g.113330423G>TCA440842595ANK2c.3219G>T (p.Leu1073=)
c.3159G>T (p.Leu1053=)
n.814G>T
n.6440G>T
n.3214G>T
n.793G>T
n.2190G>T
n.1458G>T
n.804G>T
n.1222G>T
n.172G>T
c.3078G>T (p.Leu1026=)
c.3015G>T (p.Leu1005=)
c.564G>T (p.Leu188=)
c.2991G>T (p.Leu997=)
c.3114G>T (p.Leu1038=)
c.3051G>T (p.Leu1017=)
c.2916G>T (p.Leu972=)
c.2994G>T (p.Leu998=)
c.2793G>T (p.Leu931=)
c.2892G>T (p.Leu964=)
c.3123G>T (p.Leu1041=)
c.3027G>T (p.Leu1009=)
c.3000G>T (p.Leu1000=)
c.2979G>T (p.Leu993=)
c.2952G>T (p.Leu984=)
c.741G>T (p.Leu247=)
c.2595G>T (p.Leu865=)
c.705G>T (p.Leu235=)
c.2976G>T (p.Leu992=)
c.2685G>T (p.Leu895=)
c.2835G>T (p.Leu945=)
c.214G>T
c.3210G>T (p.Leu1070=)
c.3174G>T (p.Leu1058=)
c.3264G>T (p.Leu1088=)
c.3228G>T (p.Leu1076=)
c.3204G>T (p.Leu1068=)
c.3150G>T (p.Leu1050=)
c.3090G>T (p.Leu1030=)
c.3156G>T (p.Leu1052=)
c.3120G>T (p.Leu1040=)
c.3075G>T (p.Leu1025=)
c.3048G>T (p.Leu1016=)
c.3012G>T (p.Leu1004=)
c.3036G>T (p.Leu1012=)
c.2865G>T (p.Leu955=)
c.2877G>T (p.Leu959=)
c.3195G>T (p.Leu1065=)
c.3105G>T (p.Leu1035=)
c.3081G>T (p.Leu1027=)
c.3063G>T (p.Leu1021=)
c.3135G>T (p.Leu1045=)
c.2694G>T (p.Leu898=)
c.3021G>T (p.Leu1007=)
c.3042G>T (p.Leu1014=)
4g.113330424G>ACA357935267ANK2c.3220G>A (p.Ala1074Thr)
c.3160G>A (p.Ala1054Thr)
n.815G>A
n.6441G>A
n.3215G>A
n.794G>A
n.2191G>A
n.1459G>A
n.805G>A
n.1223G>A
n.173G>A
c.3079G>A (p.Ala1027Thr)
c.3016G>A (p.Ala1006Thr)
c.565G>A (p.Ala189Thr)
c.2992G>A (p.Ala998Thr)
c.3115G>A (p.Ala1039Thr)
c.3052G>A (p.Ala1018Thr)
c.2917G>A (p.Ala973Thr)
c.2995G>A (p.Ala999Thr)
c.2794G>A (p.Ala932Thr)
c.2893G>A (p.Ala965Thr)
c.3124G>A (p.Ala1042Thr)
c.3028G>A (p.Ala1010Thr)
c.3001G>A (p.Ala1001Thr)
c.2980G>A (p.Ala994Thr)
c.2953G>A (p.Ala985Thr)
c.742G>A (p.Ala248Thr)
c.2596G>A (p.Ala866Thr)
c.706G>A (p.Ala236Thr)
c.2977G>A (p.Ala993Thr)
c.2686G>A (p.Ala896Thr)
c.2836G>A (p.Ala946Thr)
c.215G>A
c.3211G>A (p.Ala1071Thr)
c.3175G>A (p.Ala1059Thr)
c.3265G>A (p.Ala1089Thr)
c.3229G>A (p.Ala1077Thr)
c.3205G>A (p.Ala1069Thr)
c.3151G>A (p.Ala1051Thr)
c.3091G>A (p.Ala1031Thr)
c.3157G>A (p.Ala1053Thr)
c.3121G>A (p.Ala1041Thr)
c.3076G>A (p.Ala1026Thr)
c.3049G>A (p.Ala1017Thr)
c.3013G>A (p.Ala1005Thr)
c.3037G>A (p.Ala1013Thr)
c.2866G>A (p.Ala956Thr)
c.2878G>A (p.Ala960Thr)
c.3196G>A (p.Ala1066Thr)
c.3106G>A (p.Ala1036Thr)
c.3082G>A (p.Ala1028Thr)
c.3064G>A (p.Ala1022Thr)
c.3136G>A (p.Ala1046Thr)
c.2695G>A (p.Ala899Thr)
c.3022G>A (p.Ala1008Thr)
c.3043G>A (p.Ala1015Thr)
4g.113330424G>CCA357935265ANK2c.3220G>C (p.Ala1074Pro)
c.3160G>C (p.Ala1054Pro)
n.815G>C
n.6441G>C
n.3215G>C
n.794G>C
n.2191G>C
n.1459G>C
n.805G>C
n.1223G>C
n.173G>C
c.3079G>C (p.Ala1027Pro)
c.3016G>C (p.Ala1006Pro)
c.565G>C (p.Ala189Pro)
c.2992G>C (p.Ala998Pro)
c.3115G>C (p.Ala1039Pro)
c.3052G>C (p.Ala1018Pro)
c.2917G>C (p.Ala973Pro)
c.2995G>C (p.Ala999Pro)
c.2794G>C (p.Ala932Pro)
c.2893G>C (p.Ala965Pro)
c.3124G>C (p.Ala1042Pro)
c.3028G>C (p.Ala1010Pro)
c.3001G>C (p.Ala1001Pro)
c.2980G>C (p.Ala994Pro)
c.2953G>C (p.Ala985Pro)
c.742G>C (p.Ala248Pro)
c.2596G>C (p.Ala866Pro)
c.706G>C (p.Ala236Pro)
c.2977G>C (p.Ala993Pro)
c.2686G>C (p.Ala896Pro)
c.2836G>C (p.Ala946Pro)
c.215G>C
c.3211G>C (p.Ala1071Pro)
c.3175G>C (p.Ala1059Pro)
c.3265G>C (p.Ala1089Pro)
c.3229G>C (p.Ala1077Pro)
c.3205G>C (p.Ala1069Pro)
c.3151G>C (p.Ala1051Pro)
c.3091G>C (p.Ala1031Pro)
c.3157G>C (p.Ala1053Pro)
c.3121G>C (p.Ala1041Pro)
c.3076G>C (p.Ala1026Pro)
c.3049G>C (p.Ala1017Pro)
c.3013G>C (p.Ala1005Pro)
c.3037G>C (p.Ala1013Pro)
c.2866G>C (p.Ala956Pro)
c.2878G>C (p.Ala960Pro)
c.3196G>C (p.Ala1066Pro)
c.3106G>C (p.Ala1036Pro)
c.3082G>C (p.Ala1028Pro)
c.3064G>C (p.Ala1022Pro)
c.3136G>C (p.Ala1046Pro)
c.2695G>C (p.Ala899Pro)
c.3022G>C (p.Ala1008Pro)
c.3043G>C (p.Ala1015Pro)
4g.113330424G>TCA357935266ANK2c.3220G>T (p.Ala1074Ser)
c.3160G>T (p.Ala1054Ser)
n.815G>T
n.6441G>T
n.3215G>T
n.794G>T
n.2191G>T
n.1459G>T
n.805G>T
n.1223G>T
n.173G>T
c.3079G>T (p.Ala1027Ser)
c.3016G>T (p.Ala1006Ser)
c.565G>T (p.Ala189Ser)
c.2992G>T (p.Ala998Ser)
c.3115G>T (p.Ala1039Ser)
c.3052G>T (p.Ala1018Ser)
c.2917G>T (p.Ala973Ser)
c.2995G>T (p.Ala999Ser)
c.2794G>T (p.Ala932Ser)
c.2893G>T (p.Ala965Ser)
c.3124G>T (p.Ala1042Ser)
c.3028G>T (p.Ala1010Ser)
c.3001G>T (p.Ala1001Ser)
c.2980G>T (p.Ala994Ser)
c.2953G>T (p.Ala985Ser)
c.742G>T (p.Ala248Ser)
c.2596G>T (p.Ala866Ser)
c.706G>T (p.Ala236Ser)
c.2977G>T (p.Ala993Ser)
c.2686G>T (p.Ala896Ser)
c.2836G>T (p.Ala946Ser)
c.215G>T
c.3211G>T (p.Ala1071Ser)
c.3175G>T (p.Ala1059Ser)
c.3265G>T (p.Ala1089Ser)
c.3229G>T (p.Ala1077Ser)
c.3205G>T (p.Ala1069Ser)
c.3151G>T (p.Ala1051Ser)
c.3091G>T (p.Ala1031Ser)
c.3157G>T (p.Ala1053Ser)
c.3121G>T (p.Ala1041Ser)
c.3076G>T (p.Ala1026Ser)
c.3049G>T (p.Ala1017Ser)
c.3013G>T (p.Ala1005Ser)
c.3037G>T (p.Ala1013Ser)
c.2866G>T (p.Ala956Ser)
c.2878G>T (p.Ala960Ser)
c.3196G>T (p.Ala1066Ser)
c.3106G>T (p.Ala1036Ser)
c.3082G>T (p.Ala1028Ser)
c.3064G>T (p.Ala1022Ser)
c.3136G>T (p.Ala1046Ser)
c.2695G>T (p.Ala899Ser)
c.3022G>T (p.Ala1008Ser)
c.3043G>T (p.Ala1015Ser)
 dbSNP
4g.113330425C>ACA357935268ANK2c.3221C>A (p.Ala1074Asp)
c.3161C>A (p.Ala1054Asp)
n.816C>A
n.6442C>A
n.3216C>A
n.795C>A
n.2192C>A
n.1460C>A
n.806C>A
n.1224C>A
n.174C>A
c.3080C>A (p.Ala1027Asp)
c.3017C>A (p.Ala1006Asp)
c.566C>A (p.Ala189Asp)
c.2993C>A (p.Ala998Asp)
c.3116C>A (p.Ala1039Asp)
c.3053C>A (p.Ala1018Asp)
c.2918C>A (p.Ala973Asp)
c.2996C>A (p.Ala999Asp)
c.2795C>A (p.Ala932Asp)
c.2894C>A (p.Ala965Asp)
c.3125C>A (p.Ala1042Asp)
c.3029C>A (p.Ala1010Asp)
c.3002C>A (p.Ala1001Asp)
c.2981C>A (p.Ala994Asp)
c.2954C>A (p.Ala985Asp)
c.743C>A (p.Ala248Asp)
c.2597C>A (p.Ala866Asp)
c.707C>A (p.Ala236Asp)
c.2978C>A (p.Ala993Asp)
c.2687C>A (p.Ala896Asp)
c.2837C>A (p.Ala946Asp)
c.216C>A
c.3212C>A (p.Ala1071Asp)
c.3176C>A (p.Ala1059Asp)
c.3266C>A (p.Ala1089Asp)
c.3230C>A (p.Ala1077Asp)
c.3206C>A (p.Ala1069Asp)
c.3152C>A (p.Ala1051Asp)
c.3092C>A (p.Ala1031Asp)
c.3158C>A (p.Ala1053Asp)
c.3122C>A (p.Ala1041Asp)
c.3077C>A (p.Ala1026Asp)
c.3050C>A (p.Ala1017Asp)
c.3014C>A (p.Ala1005Asp)
c.3038C>A (p.Ala1013Asp)
c.2867C>A (p.Ala956Asp)
c.2879C>A (p.Ala960Asp)
c.3197C>A (p.Ala1066Asp)
c.3107C>A (p.Ala1036Asp)
c.3083C>A (p.Ala1028Asp)
c.3065C>A (p.Ala1022Asp)
c.3137C>A (p.Ala1046Asp)
c.2696C>A (p.Ala899Asp)
c.3023C>A (p.Ala1008Asp)
c.3044C>A (p.Ala1015Asp)
 gnomAD v4
4g.113330425C>GCA357935269ANK2c.3221C>G (p.Ala1074Gly)
c.3161C>G (p.Ala1054Gly)
n.816C>G
n.6442C>G
n.3216C>G
n.795C>G
n.2192C>G
n.1460C>G
n.806C>G
n.1224C>G
n.174C>G
c.3080C>G (p.Ala1027Gly)
c.3017C>G (p.Ala1006Gly)
c.566C>G (p.Ala189Gly)
c.2993C>G (p.Ala998Gly)
c.3116C>G (p.Ala1039Gly)
c.3053C>G (p.Ala1018Gly)
c.2918C>G (p.Ala973Gly)
c.2996C>G (p.Ala999Gly)
c.2795C>G (p.Ala932Gly)
c.2894C>G (p.Ala965Gly)
c.3125C>G (p.Ala1042Gly)
c.3029C>G (p.Ala1010Gly)
c.3002C>G (p.Ala1001Gly)
c.2981C>G (p.Ala994Gly)
c.2954C>G (p.Ala985Gly)
c.743C>G (p.Ala248Gly)
c.2597C>G (p.Ala866Gly)
c.707C>G (p.Ala236Gly)
c.2978C>G (p.Ala993Gly)
c.2687C>G (p.Ala896Gly)
c.2837C>G (p.Ala946Gly)
c.216C>G
c.3212C>G (p.Ala1071Gly)
c.3176C>G (p.Ala1059Gly)
c.3266C>G (p.Ala1089Gly)
c.3230C>G (p.Ala1077Gly)
c.3206C>G (p.Ala1069Gly)
c.3152C>G (p.Ala1051Gly)
c.3092C>G (p.Ala1031Gly)
c.3158C>G (p.Ala1053Gly)
c.3122C>G (p.Ala1041Gly)
c.3077C>G (p.Ala1026Gly)
c.3050C>G (p.Ala1017Gly)
c.3014C>G (p.Ala1005Gly)
c.3038C>G (p.Ala1013Gly)
c.2867C>G (p.Ala956Gly)
c.2879C>G (p.Ala960Gly)
c.3197C>G (p.Ala1066Gly)
c.3107C>G (p.Ala1036Gly)
c.3083C>G (p.Ala1028Gly)
c.3065C>G (p.Ala1022Gly)
c.3137C>G (p.Ala1046Gly)
c.2696C>G (p.Ala899Gly)
c.3023C>G (p.Ala1008Gly)
c.3044C>G (p.Ala1015Gly)
 dbSNP
4g.113330425C>TCA357935270ANK2c.3221C>T (p.Ala1074Val)
c.3161C>T (p.Ala1054Val)
n.816C>T
n.6442C>T
n.3216C>T
n.795C>T
n.2192C>T
n.1460C>T
n.806C>T
n.1224C>T
n.174C>T
c.3080C>T (p.Ala1027Val)
c.3017C>T (p.Ala1006Val)
c.566C>T (p.Ala189Val)
c.2993C>T (p.Ala998Val)
c.3116C>T (p.Ala1039Val)
c.3053C>T (p.Ala1018Val)
c.2918C>T (p.Ala973Val)
c.2996C>T (p.Ala999Val)
c.2795C>T (p.Ala932Val)
c.2894C>T (p.Ala965Val)
c.3125C>T (p.Ala1042Val)
c.3029C>T (p.Ala1010Val)
c.3002C>T (p.Ala1001Val)
c.2981C>T (p.Ala994Val)
c.2954C>T (p.Ala985Val)
c.743C>T (p.Ala248Val)
c.2597C>T (p.Ala866Val)
c.707C>T (p.Ala236Val)
c.2978C>T (p.Ala993Val)
c.2687C>T (p.Ala896Val)
c.2837C>T (p.Ala946Val)
c.216C>T
c.3212C>T (p.Ala1071Val)
c.3176C>T (p.Ala1059Val)
c.3266C>T (p.Ala1089Val)
c.3230C>T (p.Ala1077Val)
c.3206C>T (p.Ala1069Val)
c.3152C>T (p.Ala1051Val)
c.3092C>T (p.Ala1031Val)
c.3158C>T (p.Ala1053Val)
c.3122C>T (p.Ala1041Val)
c.3077C>T (p.Ala1026Val)
c.3050C>T (p.Ala1017Val)
c.3014C>T (p.Ala1005Val)
c.3038C>T (p.Ala1013Val)
c.2867C>T (p.Ala956Val)
c.2879C>T (p.Ala960Val)
c.3197C>T (p.Ala1066Val)
c.3107C>T (p.Ala1036Val)
c.3083C>T (p.Ala1028Val)
c.3065C>T (p.Ala1022Val)
c.3137C>T (p.Ala1046Val)
c.2696C>T (p.Ala899Val)
c.3023C>T (p.Ala1008Val)
c.3044C>T (p.Ala1015Val)
 dbSNP
4g.113330426C>ACA440842596ANK2c.3222C>A (p.Ala1074=)
c.3162C>A (p.Ala1054=)
n.817C>A
n.6443C>A
n.3217C>A
n.796C>A
n.2193C>A
n.1461C>A
n.807C>A
n.1225C>A
n.175C>A
c.3081C>A (p.Ala1027=)
c.3018C>A (p.Ala1006=)
c.567C>A (p.Ala189=)
c.2994C>A (p.Ala998=)
c.3117C>A (p.Ala1039=)
c.3054C>A (p.Ala1018=)
c.2919C>A (p.Ala973=)
c.2997C>A (p.Ala999=)
c.2796C>A (p.Ala932=)
c.2895C>A (p.Ala965=)
c.3126C>A (p.Ala1042=)
c.3030C>A (p.Ala1010=)
c.3003C>A (p.Ala1001=)
c.2982C>A (p.Ala994=)
c.2955C>A (p.Ala985=)
c.744C>A (p.Ala248=)
c.2598C>A (p.Ala866=)
c.708C>A (p.Ala236=)
c.2979C>A (p.Ala993=)
c.2688C>A (p.Ala896=)
c.2838C>A (p.Ala946=)
c.217C>A
c.3213C>A (p.Ala1071=)
c.3177C>A (p.Ala1059=)
c.3267C>A (p.Ala1089=)
c.3231C>A (p.Ala1077=)
c.3207C>A (p.Ala1069=)
c.3153C>A (p.Ala1051=)
c.3093C>A (p.Ala1031=)
c.3159C>A (p.Ala1053=)
c.3123C>A (p.Ala1041=)
c.3078C>A (p.Ala1026=)
c.3051C>A (p.Ala1017=)
c.3015C>A (p.Ala1005=)
c.3039C>A (p.Ala1013=)
c.2868C>A (p.Ala956=)
c.2880C>A (p.Ala960=)
c.3198C>A (p.Ala1066=)
c.3108C>A (p.Ala1036=)
c.3084C>A (p.Ala1028=)
c.3066C>A (p.Ala1022=)
c.3138C>A (p.Ala1046=)
c.2697C>A (p.Ala899=)
c.3024C>A (p.Ala1008=)
c.3045C>A (p.Ala1015=)
 dbSNP
4g.113330426C>GCA440842598ANK2c.3222C>G (p.Ala1074=)
c.3162C>G (p.Ala1054=)
n.817C>G
n.6443C>G
n.3217C>G
n.796C>G
n.2193C>G
n.1461C>G
n.807C>G
n.1225C>G
n.175C>G
c.3081C>G (p.Ala1027=)
c.3018C>G (p.Ala1006=)
c.567C>G (p.Ala189=)
c.2994C>G (p.Ala998=)
c.3117C>G (p.Ala1039=)
c.3054C>G (p.Ala1018=)
c.2919C>G (p.Ala973=)
c.2997C>G (p.Ala999=)
c.2796C>G (p.Ala932=)
c.2895C>G (p.Ala965=)
c.3126C>G (p.Ala1042=)
c.3030C>G (p.Ala1010=)
c.3003C>G (p.Ala1001=)
c.2982C>G (p.Ala994=)
c.2955C>G (p.Ala985=)
c.744C>G (p.Ala248=)
c.2598C>G (p.Ala866=)
c.708C>G (p.Ala236=)
c.2979C>G (p.Ala993=)
c.2688C>G (p.Ala896=)
c.2838C>G (p.Ala946=)
c.217C>G
c.3213C>G (p.Ala1071=)
c.3177C>G (p.Ala1059=)
c.3267C>G (p.Ala1089=)
c.3231C>G (p.Ala1077=)
c.3207C>G (p.Ala1069=)
c.3153C>G (p.Ala1051=)
c.3093C>G (p.Ala1031=)
c.3159C>G (p.Ala1053=)
c.3123C>G (p.Ala1041=)
c.3078C>G (p.Ala1026=)
c.3051C>G (p.Ala1017=)
c.3015C>G (p.Ala1005=)
c.3039C>G (p.Ala1013=)
c.2868C>G (p.Ala956=)
c.2880C>G (p.Ala960=)
c.3198C>G (p.Ala1066=)
c.3108C>G (p.Ala1036=)
c.3084C>G (p.Ala1028=)
c.3066C>G (p.Ala1022=)
c.3138C>G (p.Ala1046=)
c.2697C>G (p.Ala899=)
c.3024C>G (p.Ala1008=)
c.3045C>G (p.Ala1015=)
 dbSNP
4g.113330426C>TCA440842597ANK2c.3222C>T (p.Ala1074=)
c.3162C>T (p.Ala1054=)
n.817C>T
n.6443C>T
n.3217C>T
n.796C>T
n.2193C>T
n.1461C>T
n.807C>T
n.1225C>T
n.175C>T
c.3081C>T (p.Ala1027=)
c.3018C>T (p.Ala1006=)
c.567C>T (p.Ala189=)
c.2994C>T (p.Ala998=)
c.3117C>T (p.Ala1039=)
c.3054C>T (p.Ala1018=)
c.2919C>T (p.Ala973=)
c.2997C>T (p.Ala999=)
c.2796C>T (p.Ala932=)
c.2895C>T (p.Ala965=)
c.3126C>T (p.Ala1042=)
c.3030C>T (p.Ala1010=)
c.3003C>T (p.Ala1001=)
c.2982C>T (p.Ala994=)
c.2955C>T (p.Ala985=)
c.744C>T (p.Ala248=)
c.2598C>T (p.Ala866=)
c.708C>T (p.Ala236=)
c.2979C>T (p.Ala993=)
c.2688C>T (p.Ala896=)
c.2838C>T (p.Ala946=)
c.217C>T
c.3213C>T (p.Ala1071=)
c.3177C>T (p.Ala1059=)
c.3267C>T (p.Ala1089=)
c.3231C>T (p.Ala1077=)
c.3207C>T (p.Ala1069=)
c.3153C>T (p.Ala1051=)
c.3093C>T (p.Ala1031=)
c.3159C>T (p.Ala1053=)
c.3123C>T (p.Ala1041=)
c.3078C>T (p.Ala1026=)
c.3051C>T (p.Ala1017=)
c.3015C>T (p.Ala1005=)
c.3039C>T (p.Ala1013=)
c.2868C>T (p.Ala956=)
c.2880C>T (p.Ala960=)
c.3198C>T (p.Ala1066=)
c.3108C>T (p.Ala1036=)
c.3084C>T (p.Ala1028=)
c.3066C>T (p.Ala1022=)
c.3138C>T (p.Ala1046=)
c.2697C>T (p.Ala899=)
c.3024C>T (p.Ala1008=)
c.3045C>T (p.Ala1015=)
 dbSNP gnomAD v4
4g.113330427A>CCA357935271ANK2c.3223A>C (p.Ser1075Arg)
c.3163A>C (p.Ser1055Arg)
n.818A>C
n.6444A>C
n.3218A>C
n.797A>C
n.2194A>C
n.1462A>C
n.808A>C
n.1226A>C
n.176A>C
c.3082A>C (p.Ser1028Arg)
c.3019A>C (p.Ser1007Arg)
c.568A>C (p.Ser190Arg)
c.2995A>C (p.Ser999Arg)
c.3118A>C (p.Ser1040Arg)
c.3055A>C (p.Ser1019Arg)
c.2920A>C (p.Ser974Arg)
c.2998A>C (p.Ser1000Arg)
c.2797A>C (p.Ser933Arg)
c.2896A>C (p.Ser966Arg)
c.3127A>C (p.Ser1043Arg)
c.3031A>C (p.Ser1011Arg)
c.3004A>C (p.Ser1002Arg)
c.2983A>C (p.Ser995Arg)
c.2956A>C (p.Ser986Arg)
c.745A>C (p.Ser249Arg)
c.2599A>C (p.Ser867Arg)
c.709A>C (p.Ser237Arg)
c.2980A>C (p.Ser994Arg)
c.2689A>C (p.Ser897Arg)
c.2839A>C (p.Ser947Arg)
c.218A>C
c.3214A>C (p.Ser1072Arg)
c.3178A>C (p.Ser1060Arg)
c.3268A>C (p.Ser1090Arg)
c.3232A>C (p.Ser1078Arg)
c.3208A>C (p.Ser1070Arg)
c.3154A>C (p.Ser1052Arg)
c.3094A>C (p.Ser1032Arg)
c.3160A>C (p.Ser1054Arg)
c.3124A>C (p.Ser1042Arg)
c.3079A>C (p.Ser1027Arg)
c.3052A>C (p.Ser1018Arg)
c.3016A>C (p.Ser1006Arg)
c.3040A>C (p.Ser1014Arg)
c.2869A>C (p.Ser957Arg)
c.2881A>C (p.Ser961Arg)
c.3199A>C (p.Ser1067Arg)
c.3109A>C (p.Ser1037Arg)
c.3085A>C (p.Ser1029Arg)
c.3067A>C (p.Ser1023Arg)
c.3139A>C (p.Ser1047Arg)
c.2698A>C (p.Ser900Arg)
c.3025A>C (p.Ser1009Arg)
c.3046A>C (p.Ser1016Arg)
4g.113330427A>GCA300873ANK2c.3223A>G (p.Ser1075Gly)
c.3163A>G (p.Ser1055Gly)
n.818A>G
n.6444A>G
n.3218A>G
n.797A>G
n.2194A>G
n.1462A>G
n.808A>G
n.1226A>G
n.176A>G
c.3082A>G (p.Ser1028Gly)
c.3019A>G (p.Ser1007Gly)
c.568A>G (p.Ser190Gly)
c.2995A>G (p.Ser999Gly)
c.3118A>G (p.Ser1040Gly)
c.3055A>G (p.Ser1019Gly)
c.2920A>G (p.Ser974Gly)
c.2998A>G (p.Ser1000Gly)
c.2797A>G (p.Ser933Gly)
c.2896A>G (p.Ser966Gly)
c.3127A>G (p.Ser1043Gly)
c.3031A>G (p.Ser1011Gly)
c.3004A>G (p.Ser1002Gly)
c.2983A>G (p.Ser995Gly)
c.2956A>G (p.Ser986Gly)
c.745A>G (p.Ser249Gly)
c.2599A>G (p.Ser867Gly)
c.709A>G (p.Ser237Gly)
c.2980A>G (p.Ser994Gly)
c.2689A>G (p.Ser897Gly)
c.2839A>G (p.Ser947Gly)
c.218A>G
c.3214A>G (p.Ser1072Gly)
c.3178A>G (p.Ser1060Gly)
c.3268A>G (p.Ser1090Gly)
c.3232A>G (p.Ser1078Gly)
c.3208A>G (p.Ser1070Gly)
c.3154A>G (p.Ser1052Gly)
c.3094A>G (p.Ser1032Gly)
c.3160A>G (p.Ser1054Gly)
c.3124A>G (p.Ser1042Gly)
c.3079A>G (p.Ser1027Gly)
c.3052A>G (p.Ser1018Gly)
c.3016A>G (p.Ser1006Gly)
c.3040A>G (p.Ser1014Gly)
c.2869A>G (p.Ser957Gly)
c.2881A>G (p.Ser961Gly)
c.3199A>G (p.Ser1067Gly)
c.3109A>G (p.Ser1037Gly)
c.3085A>G (p.Ser1029Gly)
c.3067A>G (p.Ser1023Gly)
c.3139A>G (p.Ser1047Gly)
c.2698A>G (p.Ser900Gly)
c.3025A>G (p.Ser1009Gly)
c.3046A>G (p.Ser1016Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
4g.113330427A>TCA357935272ANK2c.3223A>T (p.Ser1075Cys)
c.3163A>T (p.Ser1055Cys)
n.818A>T
n.6444A>T
n.3218A>T
n.797A>T
n.2194A>T
n.1462A>T
n.808A>T
n.1226A>T
n.176A>T
c.3082A>T (p.Ser1028Cys)
c.3019A>T (p.Ser1007Cys)
c.568A>T (p.Ser190Cys)
c.2995A>T (p.Ser999Cys)
c.3118A>T (p.Ser1040Cys)
c.3055A>T (p.Ser1019Cys)
c.2920A>T (p.Ser974Cys)
c.2998A>T (p.Ser1000Cys)
c.2797A>T (p.Ser933Cys)
c.2896A>T (p.Ser966Cys)
c.3127A>T (p.Ser1043Cys)
c.3031A>T (p.Ser1011Cys)
c.3004A>T (p.Ser1002Cys)
c.2983A>T (p.Ser995Cys)
c.2956A>T (p.Ser986Cys)
c.745A>T (p.Ser249Cys)
c.2599A>T (p.Ser867Cys)
c.709A>T (p.Ser237Cys)
c.2980A>T (p.Ser994Cys)
c.2689A>T (p.Ser897Cys)
c.2839A>T (p.Ser947Cys)
c.218A>T
c.3214A>T (p.Ser1072Cys)
c.3178A>T (p.Ser1060Cys)
c.3268A>T (p.Ser1090Cys)
c.3232A>T (p.Ser1078Cys)
c.3208A>T (p.Ser1070Cys)
c.3154A>T (p.Ser1052Cys)
c.3094A>T (p.Ser1032Cys)
c.3160A>T (p.Ser1054Cys)
c.3124A>T (p.Ser1042Cys)
c.3079A>T (p.Ser1027Cys)
c.3052A>T (p.Ser1018Cys)
c.3016A>T (p.Ser1006Cys)
c.3040A>T (p.Ser1014Cys)
c.2869A>T (p.Ser957Cys)
c.2881A>T (p.Ser961Cys)
c.3199A>T (p.Ser1067Cys)
c.3109A>T (p.Ser1037Cys)
c.3085A>T (p.Ser1029Cys)
c.3067A>T (p.Ser1023Cys)
c.3139A>T (p.Ser1047Cys)
c.2698A>T (p.Ser900Cys)
c.3025A>T (p.Ser1009Cys)
c.3046A>T (p.Ser1016Cys)
 dbSNP
4g.113330428G>ACA357935273ANK2c.3224G>A (p.Ser1075Asn)
c.3164G>A (p.Ser1055Asn)
n.819G>A
n.6445G>A
n.3219G>A
n.798G>A
n.2195G>A
n.1463G>A
n.809G>A
n.1227G>A
n.177G>A
c.3083G>A (p.Ser1028Asn)
c.3020G>A (p.Ser1007Asn)
c.569G>A (p.Ser190Asn)
c.2996G>A (p.Ser999Asn)
c.3119G>A (p.Ser1040Asn)
c.3056G>A (p.Ser1019Asn)
c.2921G>A (p.Ser974Asn)
c.2999G>A (p.Ser1000Asn)
c.2798G>A (p.Ser933Asn)
c.2897G>A (p.Ser966Asn)
c.3128G>A (p.Ser1043Asn)
c.3032G>A (p.Ser1011Asn)
c.3005G>A (p.Ser1002Asn)
c.2984G>A (p.Ser995Asn)
c.2957G>A (p.Ser986Asn)
c.746G>A (p.Ser249Asn)
c.2600G>A (p.Ser867Asn)
c.710G>A (p.Ser237Asn)
c.2981G>A (p.Ser994Asn)
c.2690G>A (p.Ser897Asn)
c.2840G>A (p.Ser947Asn)
c.219G>A
c.3215G>A (p.Ser1072Asn)
c.3179G>A (p.Ser1060Asn)
c.3269G>A (p.Ser1090Asn)
c.3233G>A (p.Ser1078Asn)
c.3209G>A (p.Ser1070Asn)
c.3155G>A (p.Ser1052Asn)
c.3095G>A (p.Ser1032Asn)
c.3161G>A (p.Ser1054Asn)
c.3125G>A (p.Ser1042Asn)
c.3080G>A (p.Ser1027Asn)
c.3053G>A (p.Ser1018Asn)
c.3017G>A (p.Ser1006Asn)
c.3041G>A (p.Ser1014Asn)
c.2870G>A (p.Ser957Asn)
c.2882G>A (p.Ser961Asn)
c.3200G>A (p.Ser1067Asn)
c.3110G>A (p.Ser1037Asn)
c.3086G>A (p.Ser1029Asn)
c.3068G>A (p.Ser1023Asn)
c.3140G>A (p.Ser1047Asn)
c.2699G>A (p.Ser900Asn)
c.3026G>A (p.Ser1009Asn)
c.3047G>A (p.Ser1016Asn)
 dbSNP
4g.113330428G>CCA357935275ANK2c.3224G>C (p.Ser1075Thr)
c.3164G>C (p.Ser1055Thr)
n.819G>C
n.6445G>C
n.3219G>C
n.798G>C
n.2195G>C
n.1463G>C
n.809G>C
n.1227G>C
n.177G>C
c.3083G>C (p.Ser1028Thr)
c.3020G>C (p.Ser1007Thr)
c.569G>C (p.Ser190Thr)
c.2996G>C (p.Ser999Thr)
c.3119G>C (p.Ser1040Thr)
c.3056G>C (p.Ser1019Thr)
c.2921G>C (p.Ser974Thr)
c.2999G>C (p.Ser1000Thr)
c.2798G>C (p.Ser933Thr)
c.2897G>C (p.Ser966Thr)
c.3128G>C (p.Ser1043Thr)
c.3032G>C (p.Ser1011Thr)
c.3005G>C (p.Ser1002Thr)
c.2984G>C (p.Ser995Thr)
c.2957G>C (p.Ser986Thr)
c.746G>C (p.Ser249Thr)
c.2600G>C (p.Ser867Thr)
c.710G>C (p.Ser237Thr)
c.2981G>C (p.Ser994Thr)
c.2690G>C (p.Ser897Thr)
c.2840G>C (p.Ser947Thr)
c.219G>C
c.3215G>C (p.Ser1072Thr)
c.3179G>C (p.Ser1060Thr)
c.3269G>C (p.Ser1090Thr)
c.3233G>C (p.Ser1078Thr)
c.3209G>C (p.Ser1070Thr)
c.3155G>C (p.Ser1052Thr)
c.3095G>C (p.Ser1032Thr)
c.3161G>C (p.Ser1054Thr)
c.3125G>C (p.Ser1042Thr)
c.3080G>C (p.Ser1027Thr)
c.3053G>C (p.Ser1018Thr)
c.3017G>C (p.Ser1006Thr)
c.3041G>C (p.Ser1014Thr)
c.2870G>C (p.Ser957Thr)
c.2882G>C (p.Ser961Thr)
c.3200G>C (p.Ser1067Thr)
c.3110G>C (p.Ser1037Thr)
c.3086G>C (p.Ser1029Thr)
c.3068G>C (p.Ser1023Thr)
c.3140G>C (p.Ser1047Thr)
c.2699G>C (p.Ser900Thr)
c.3026G>C (p.Ser1009Thr)
c.3047G>C (p.Ser1016Thr)
 dbSNP
4g.113330428G>TCA357935274ANK2c.3224G>T (p.Ser1075Ile)
c.3164G>T (p.Ser1055Ile)
n.819G>T
n.6445G>T
n.3219G>T
n.798G>T
n.2195G>T
n.1463G>T
n.809G>T
n.1227G>T
n.177G>T
c.3083G>T (p.Ser1028Ile)
c.3020G>T (p.Ser1007Ile)
c.569G>T (p.Ser190Ile)
c.2996G>T (p.Ser999Ile)
c.3119G>T (p.Ser1040Ile)
c.3056G>T (p.Ser1019Ile)
c.2921G>T (p.Ser974Ile)
c.2999G>T (p.Ser1000Ile)
c.2798G>T (p.Ser933Ile)
c.2897G>T (p.Ser966Ile)
c.3128G>T (p.Ser1043Ile)
c.3032G>T (p.Ser1011Ile)
c.3005G>T (p.Ser1002Ile)
c.2984G>T (p.Ser995Ile)
c.2957G>T (p.Ser986Ile)
c.746G>T (p.Ser249Ile)
c.2600G>T (p.Ser867Ile)
c.710G>T (p.Ser237Ile)
c.2981G>T (p.Ser994Ile)
c.2690G>T (p.Ser897Ile)
c.2840G>T (p.Ser947Ile)
c.219G>T
c.3215G>T (p.Ser1072Ile)
c.3179G>T (p.Ser1060Ile)
c.3269G>T (p.Ser1090Ile)
c.3233G>T (p.Ser1078Ile)
c.3209G>T (p.Ser1070Ile)
c.3155G>T (p.Ser1052Ile)
c.3095G>T (p.Ser1032Ile)
c.3161G>T (p.Ser1054Ile)
c.3125G>T (p.Ser1042Ile)
c.3080G>T (p.Ser1027Ile)
c.3053G>T (p.Ser1018Ile)
c.3017G>T (p.Ser1006Ile)
c.3041G>T (p.Ser1014Ile)
c.2870G>T (p.Ser957Ile)
c.2882G>T (p.Ser961Ile)
c.3200G>T (p.Ser1067Ile)
c.3110G>T (p.Ser1037Ile)
c.3086G>T (p.Ser1029Ile)
c.3068G>T (p.Ser1023Ile)
c.3140G>T (p.Ser1047Ile)
c.2699G>T (p.Ser900Ile)
c.3026G>T (p.Ser1009Ile)
c.3047G>T (p.Ser1016Ile)
4g.113330429T>ACA357935276ANK2c.3225T>A (p.Ser1075Arg)
c.3165T>A (p.Ser1055Arg)
n.820T>A
n.6446T>A
n.3220T>A
n.799T>A
n.2196T>A
n.1464T>A
n.810T>A
n.1228T>A
n.178T>A
c.3084T>A (p.Ser1028Arg)
c.3021T>A (p.Ser1007Arg)
c.570T>A (p.Ser190Arg)
c.2997T>A (p.Ser999Arg)
c.3120T>A (p.Ser1040Arg)
c.3057T>A (p.Ser1019Arg)
c.2922T>A (p.Ser974Arg)
c.3000T>A (p.Ser1000Arg)
c.2799T>A (p.Ser933Arg)
c.2898T>A (p.Ser966Arg)
c.3129T>A (p.Ser1043Arg)
c.3033T>A (p.Ser1011Arg)
c.3006T>A (p.Ser1002Arg)
c.2985T>A (p.Ser995Arg)
c.2958T>A (p.Ser986Arg)
c.747T>A (p.Ser249Arg)
c.2601T>A (p.Ser867Arg)
c.711T>A (p.Ser237Arg)
c.2982T>A (p.Ser994Arg)
c.2691T>A (p.Ser897Arg)
c.2841T>A (p.Ser947Arg)
c.220T>A
c.3216T>A (p.Ser1072Arg)
c.3180T>A (p.Ser1060Arg)
c.3270T>A (p.Ser1090Arg)
c.3234T>A (p.Ser1078Arg)
c.3210T>A (p.Ser1070Arg)
c.3156T>A (p.Ser1052Arg)
c.3096T>A (p.Ser1032Arg)
c.3162T>A (p.Ser1054Arg)
c.3126T>A (p.Ser1042Arg)
c.3081T>A (p.Ser1027Arg)
c.3054T>A (p.Ser1018Arg)
c.3018T>A (p.Ser1006Arg)
c.3042T>A (p.Ser1014Arg)
c.2871T>A (p.Ser957Arg)
c.2883T>A (p.Ser961Arg)
c.3201T>A (p.Ser1067Arg)
c.3111T>A (p.Ser1037Arg)
c.3087T>A (p.Ser1029Arg)
c.3069T>A (p.Ser1023Arg)
c.3141T>A (p.Ser1047Arg)
c.2700T>A (p.Ser900Arg)
c.3027T>A (p.Ser1009Arg)
c.3048T>A (p.Ser1016Arg)
4g.113330429T>CCA440842599ANK2c.3225T>C (p.Ser1075=)
c.3165T>C (p.Ser1055=)
n.820T>C
n.6446T>C
n.3220T>C
n.799T>C
n.2196T>C
n.1464T>C
n.810T>C
n.1228T>C
n.178T>C
c.3084T>C (p.Ser1028=)
c.3021T>C (p.Ser1007=)
c.570T>C (p.Ser190=)
c.2997T>C (p.Ser999=)
c.3120T>C (p.Ser1040=)
c.3057T>C (p.Ser1019=)
c.2922T>C (p.Ser974=)
c.3000T>C (p.Ser1000=)
c.2799T>C (p.Ser933=)
c.2898T>C (p.Ser966=)
c.3129T>C (p.Ser1043=)
c.3033T>C (p.Ser1011=)
c.3006T>C (p.Ser1002=)
c.2985T>C (p.Ser995=)
c.2958T>C (p.Ser986=)
c.747T>C (p.Ser249=)
c.2601T>C (p.Ser867=)
c.711T>C (p.Ser237=)
c.2982T>C (p.Ser994=)
c.2691T>C (p.Ser897=)
c.2841T>C (p.Ser947=)
c.220T>C
c.3216T>C (p.Ser1072=)
c.3180T>C (p.Ser1060=)
c.3270T>C (p.Ser1090=)
c.3234T>C (p.Ser1078=)
c.3210T>C (p.Ser1070=)
c.3156T>C (p.Ser1052=)
c.3096T>C (p.Ser1032=)
c.3162T>C (p.Ser1054=)
c.3126T>C (p.Ser1042=)
c.3081T>C (p.Ser1027=)
c.3054T>C (p.Ser1018=)
c.3018T>C (p.Ser1006=)
c.3042T>C (p.Ser1014=)
c.2871T>C (p.Ser957=)
c.2883T>C (p.Ser961=)
c.3201T>C (p.Ser1067=)
c.3111T>C (p.Ser1037=)
c.3087T>C (p.Ser1029=)
c.3069T>C (p.Ser1023=)
c.3141T>C (p.Ser1047=)
c.2700T>C (p.Ser900=)
c.3027T>C (p.Ser1009=)
c.3048T>C (p.Ser1016=)
4g.113330429T>GCA357935277ANK2c.3225T>G (p.Ser1075Arg)
c.3165T>G (p.Ser1055Arg)
n.820T>G
n.6446T>G
n.3220T>G
n.799T>G
n.2196T>G
n.1464T>G
n.810T>G
n.1228T>G
n.178T>G
c.3084T>G (p.Ser1028Arg)
c.3021T>G (p.Ser1007Arg)
c.570T>G (p.Ser190Arg)
c.2997T>G (p.Ser999Arg)
c.3120T>G (p.Ser1040Arg)
c.3057T>G (p.Ser1019Arg)
c.2922T>G (p.Ser974Arg)
c.3000T>G (p.Ser1000Arg)
c.2799T>G (p.Ser933Arg)
c.2898T>G (p.Ser966Arg)
c.3129T>G (p.Ser1043Arg)
c.3033T>G (p.Ser1011Arg)
c.3006T>G (p.Ser1002Arg)
c.2985T>G (p.Ser995Arg)
c.2958T>G (p.Ser986Arg)
c.747T>G (p.Ser249Arg)
c.2601T>G (p.Ser867Arg)
c.711T>G (p.Ser237Arg)
c.2982T>G (p.Ser994Arg)
c.2691T>G (p.Ser897Arg)
c.2841T>G (p.Ser947Arg)
c.220T>G
c.3216T>G (p.Ser1072Arg)
c.3180T>G (p.Ser1060Arg)
c.3270T>G (p.Ser1090Arg)
c.3234T>G (p.Ser1078Arg)
c.3210T>G (p.Ser1070Arg)
c.3156T>G (p.Ser1052Arg)
c.3096T>G (p.Ser1032Arg)
c.3162T>G (p.Ser1054Arg)
c.3126T>G (p.Ser1042Arg)
c.3081T>G (p.Ser1027Arg)
c.3054T>G (p.Ser1018Arg)
c.3018T>G (p.Ser1006Arg)
c.3042T>G (p.Ser1014Arg)
c.2871T>G (p.Ser957Arg)
c.2883T>G (p.Ser961Arg)
c.3201T>G (p.Ser1067Arg)
c.3111T>G (p.Ser1037Arg)
c.3087T>G (p.Ser1029Arg)
c.3069T>G (p.Ser1023Arg)
c.3141T>G (p.Ser1047Arg)
c.2700T>G (p.Ser900Arg)
c.3027T>G (p.Ser1009Arg)
c.3048T>G (p.Ser1016Arg)
4g.113330430C>ACA357935278ANK2c.3226C>A (p.Arg1076Ser)
c.3166C>A (p.Arg1056Ser)
n.821C>A
n.6447C>A
n.3221C>A
n.800C>A
n.2197C>A
n.1465C>A
n.811C>A
n.1229C>A
n.179C>A
c.3085C>A (p.Arg1029Ser)
c.3022C>A (p.Arg1008Ser)
c.571C>A (p.Arg191Ser)
c.2998C>A (p.Arg1000Ser)
c.3121C>A (p.Arg1041Ser)
c.3058C>A (p.Arg1020Ser)
c.2923C>A (p.Arg975Ser)
c.3001C>A (p.Arg1001Ser)
c.2800C>A (p.Arg934Ser)
c.2899C>A (p.Arg967Ser)
c.3130C>A (p.Arg1044Ser)
c.3034C>A (p.Arg1012Ser)
c.3007C>A (p.Arg1003Ser)
c.2986C>A (p.Arg996Ser)
c.2959C>A (p.Arg987Ser)
c.748C>A (p.Arg250Ser)
c.2602C>A (p.Arg868Ser)
c.712C>A (p.Arg238Ser)
c.2983C>A (p.Arg995Ser)
c.2692C>A (p.Arg898Ser)
c.2842C>A (p.Arg948Ser)
c.221C>A
c.3217C>A (p.Arg1073Ser)
c.3181C>A (p.Arg1061Ser)
c.3271C>A (p.Arg1091Ser)
c.3235C>A (p.Arg1079Ser)
c.3211C>A (p.Arg1071Ser)
c.3157C>A (p.Arg1053Ser)
c.3097C>A (p.Arg1033Ser)
c.3163C>A (p.Arg1055Ser)
c.3127C>A (p.Arg1043Ser)
c.3082C>A (p.Arg1028Ser)
c.3055C>A (p.Arg1019Ser)
c.3019C>A (p.Arg1007Ser)
c.3043C>A (p.Arg1015Ser)
c.2872C>A (p.Arg958Ser)
c.2884C>A (p.Arg962Ser)
c.3202C>A (p.Arg1068Ser)
c.3112C>A (p.Arg1038Ser)
c.3088C>A (p.Arg1030Ser)
c.3070C>A (p.Arg1024Ser)
c.3142C>A (p.Arg1048Ser)
c.2701C>A (p.Arg901Ser)
c.3028C>A (p.Arg1010Ser)
c.3049C>A (p.Arg1017Ser)
 gnomAD v4
4g.113330430C>GCA357935279ANK2c.3226C>G (p.Arg1076Gly)
c.3166C>G (p.Arg1056Gly)
n.821C>G
n.6447C>G
n.3221C>G
n.800C>G
n.2197C>G
n.1465C>G
n.811C>G
n.1229C>G
n.179C>G
c.3085C>G (p.Arg1029Gly)
c.3022C>G (p.Arg1008Gly)
c.571C>G (p.Arg191Gly)
c.2998C>G (p.Arg1000Gly)
c.3121C>G (p.Arg1041Gly)
c.3058C>G (p.Arg1020Gly)
c.2923C>G (p.Arg975Gly)
c.3001C>G (p.Arg1001Gly)
c.2800C>G (p.Arg934Gly)
c.2899C>G (p.Arg967Gly)
c.3130C>G (p.Arg1044Gly)
c.3034C>G (p.Arg1012Gly)
c.3007C>G (p.Arg1003Gly)
c.2986C>G (p.Arg996Gly)
c.2959C>G (p.Arg987Gly)
c.748C>G (p.Arg250Gly)
c.2602C>G (p.Arg868Gly)
c.712C>G (p.Arg238Gly)
c.2983C>G (p.Arg995Gly)
c.2692C>G (p.Arg898Gly)
c.2842C>G (p.Arg948Gly)
c.221C>G
c.3217C>G (p.Arg1073Gly)
c.3181C>G (p.Arg1061Gly)
c.3271C>G (p.Arg1091Gly)
c.3235C>G (p.Arg1079Gly)
c.3211C>G (p.Arg1071Gly)
c.3157C>G (p.Arg1053Gly)
c.3097C>G (p.Arg1033Gly)
c.3163C>G (p.Arg1055Gly)
c.3127C>G (p.Arg1043Gly)
c.3082C>G (p.Arg1028Gly)
c.3055C>G (p.Arg1019Gly)
c.3019C>G (p.Arg1007Gly)
c.3043C>G (p.Arg1015Gly)
c.2872C>G (p.Arg958Gly)
c.2884C>G (p.Arg962Gly)
c.3202C>G (p.Arg1068Gly)
c.3112C>G (p.Arg1038Gly)
c.3088C>G (p.Arg1030Gly)
c.3070C>G (p.Arg1024Gly)
c.3142C>G (p.Arg1048Gly)
c.2701C>G (p.Arg901Gly)
c.3028C>G (p.Arg1010Gly)
c.3049C>G (p.Arg1017Gly)
4g.113330430C>TCA300878ANK2c.3226C>T (p.Arg1076Cys)
c.3166C>T (p.Arg1056Cys)
n.821C>T
n.6447C>T
n.3221C>T
n.800C>T
n.2197C>T
n.1465C>T
n.811C>T
n.1229C>T
n.179C>T
c.3085C>T (p.Arg1029Cys)
c.3022C>T (p.Arg1008Cys)
c.571C>T (p.Arg191Cys)
c.2998C>T (p.Arg1000Cys)
c.3121C>T (p.Arg1041Cys)
c.3058C>T (p.Arg1020Cys)
c.2923C>T (p.Arg975Cys)
c.3001C>T (p.Arg1001Cys)
c.2800C>T (p.Arg934Cys)
c.2899C>T (p.Arg967Cys)
c.3130C>T (p.Arg1044Cys)
c.3034C>T (p.Arg1012Cys)
c.3007C>T (p.Arg1003Cys)
c.2986C>T (p.Arg996Cys)
c.2959C>T (p.Arg987Cys)
c.748C>T (p.Arg250Cys)
c.2602C>T (p.Arg868Cys)
c.712C>T (p.Arg238Cys)
c.2983C>T (p.Arg995Cys)
c.2692C>T (p.Arg898Cys)
c.2842C>T (p.Arg948Cys)
c.221C>T
c.3217C>T (p.Arg1073Cys)
c.3181C>T (p.Arg1061Cys)
c.3271C>T (p.Arg1091Cys)
c.3235C>T (p.Arg1079Cys)
c.3211C>T (p.Arg1071Cys)
c.3157C>T (p.Arg1053Cys)
c.3097C>T (p.Arg1033Cys)
c.3163C>T (p.Arg1055Cys)
c.3127C>T (p.Arg1043Cys)
c.3082C>T (p.Arg1028Cys)
c.3055C>T (p.Arg1019Cys)
c.3019C>T (p.Arg1007Cys)
c.3043C>T (p.Arg1015Cys)
c.2872C>T (p.Arg958Cys)
c.2884C>T (p.Arg962Cys)
c.3202C>T (p.Arg1068Cys)
c.3112C>T (p.Arg1038Cys)
c.3088C>T (p.Arg1030Cys)
c.3070C>T (p.Arg1024Cys)
c.3142C>T (p.Arg1048Cys)
c.2701C>T (p.Arg901Cys)
c.3028C>T (p.Arg1010Cys)
c.3049C>T (p.Arg1017Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched