Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.113333097A>CCA357935994ANK2c.3409A>C (p.Lys1137Gln)
c.3349A>C (p.Lys1117Gln)
n.1451A>C
n.905A>C
n.113A>C
n.6531A>C
n.4905A>C
n.25A>C
n.884A>C
n.2281A>C
n.1648A>C
n.994A>C
n.1412A>C
n.1863A>C
c.3268A>C (p.Lys1090Gln)
c.3106A>C (p.Lys1036Gln)
c.655A>C (p.Lys219Gln)
c.3082A>C (p.Lys1028Gln)
c.3169A>C (p.Lys1057Gln)
c.3304A>C (p.Lys1102Gln)
c.3205A>C (p.Lys1069Gln)
c.3142A>C (p.Lys1048Gln)
c.3007A>C (p.Lys1003Gln)
c.3085A>C (p.Lys1029Gln)
c.2884A>C (p.Lys962Gln)
c.2983A>C (p.Lys995Gln)
c.3313A>C (p.Lys1105Gln)
c.3118A>C (p.Lys1040Gln)
c.3091A>C (p.Lys1031Gln)
c.3070A>C (p.Lys1024Gln)
c.3043A>C (p.Lys1015Gln)
c.3241A>C (p.Lys1081Gln)
c.832A>C (p.Lys278Gln)
c.2686A>C (p.Lys896Gln)
c.796A>C (p.Lys266Gln)
c.3214A>C (p.Lys1072Gln)
c.3067A>C (p.Lys1023Gln)
c.2776A>C (p.Lys926Gln)
c.2926A>C (p.Lys976Gln)
n.116A>C
c.305A>C
c.3181A>C (p.Lys1061Gln)
c.3301A>C (p.Lys1101Gln)
c.3265A>C (p.Lys1089Gln)
c.3355A>C (p.Lys1119Gln)
c.3319A>C (p.Lys1107Gln)
c.3295A>C (p.Lys1099Gln)
c.3340A>C (p.Lys1114Gln)
c.3280A>C (p.Lys1094Gln)
c.3247A>C (p.Lys1083Gln)
c.3310A>C (p.Lys1104Gln)
c.3166A>C (p.Lys1056Gln)
c.3346A>C (p.Lys1116Gln)
c.3238A>C (p.Lys1080Gln)
c.3202A>C (p.Lys1068Gln)
c.3217A>C (p.Lys1073Gln)
c.3127A>C (p.Lys1043Gln)
c.3055A>C (p.Lys1019Gln)
c.3139A>C (p.Lys1047Gln)
c.2968A>C (p.Lys990Gln)
c.3385A>C (p.Lys1129Gln)
c.3271A>C (p.Lys1091Gln)
c.3253A>C (p.Lys1085Gln)
c.3325A>C (p.Lys1109Gln)
c.2785A>C (p.Lys929Gln)
c.3112A>C (p.Lys1038Gln)
c.3133A>C (p.Lys1045Gln)
4g.113333097A>GCA357935992ANK2c.3409A>G (p.Lys1137Glu)
c.3349A>G (p.Lys1117Glu)
n.1451A>G
n.905A>G
n.113A>G
n.6531A>G
n.4905A>G
n.25A>G
n.884A>G
n.2281A>G
n.1648A>G
n.994A>G
n.1412A>G
n.1863A>G
c.3268A>G (p.Lys1090Glu)
c.3106A>G (p.Lys1036Glu)
c.655A>G (p.Lys219Glu)
c.3082A>G (p.Lys1028Glu)
c.3169A>G (p.Lys1057Glu)
c.3304A>G (p.Lys1102Glu)
c.3205A>G (p.Lys1069Glu)
c.3142A>G (p.Lys1048Glu)
c.3007A>G (p.Lys1003Glu)
c.3085A>G (p.Lys1029Glu)
c.2884A>G (p.Lys962Glu)
c.2983A>G (p.Lys995Glu)
c.3313A>G (p.Lys1105Glu)
c.3118A>G (p.Lys1040Glu)
c.3091A>G (p.Lys1031Glu)
c.3070A>G (p.Lys1024Glu)
c.3043A>G (p.Lys1015Glu)
c.3241A>G (p.Lys1081Glu)
c.832A>G (p.Lys278Glu)
c.2686A>G (p.Lys896Glu)
c.796A>G (p.Lys266Glu)
c.3214A>G (p.Lys1072Glu)
c.3067A>G (p.Lys1023Glu)
c.2776A>G (p.Lys926Glu)
c.2926A>G (p.Lys976Glu)
n.116A>G
c.305A>G
c.3181A>G (p.Lys1061Glu)
c.3301A>G (p.Lys1101Glu)
c.3265A>G (p.Lys1089Glu)
c.3355A>G (p.Lys1119Glu)
c.3319A>G (p.Lys1107Glu)
c.3295A>G (p.Lys1099Glu)
c.3340A>G (p.Lys1114Glu)
c.3280A>G (p.Lys1094Glu)
c.3247A>G (p.Lys1083Glu)
c.3310A>G (p.Lys1104Glu)
c.3166A>G (p.Lys1056Glu)
c.3346A>G (p.Lys1116Glu)
c.3238A>G (p.Lys1080Glu)
c.3202A>G (p.Lys1068Glu)
c.3217A>G (p.Lys1073Glu)
c.3127A>G (p.Lys1043Glu)
c.3055A>G (p.Lys1019Glu)
c.3139A>G (p.Lys1047Glu)
c.2968A>G (p.Lys990Glu)
c.3385A>G (p.Lys1129Glu)
c.3271A>G (p.Lys1091Glu)
c.3253A>G (p.Lys1085Glu)
c.3325A>G (p.Lys1109Glu)
c.2785A>G (p.Lys929Glu)
c.3112A>G (p.Lys1038Glu)
c.3133A>G (p.Lys1045Glu)
ClinVar dbSNP gnomAD v4
4g.113333097A>TCA357935990ANK2c.3409A>T (p.Lys1137Ter)
c.3349A>T (p.Lys1117Ter)
n.1451A>T
n.905A>T
n.113A>T
n.6531A>T
n.4905A>T
n.25A>T
n.884A>T
n.2281A>T
n.1648A>T
n.994A>T
n.1412A>T
n.1863A>T
c.3268A>T (p.Lys1090Ter)
c.3106A>T (p.Lys1036Ter)
c.655A>T (p.Lys219Ter)
c.3082A>T (p.Lys1028Ter)
c.3169A>T (p.Lys1057Ter)
c.3304A>T (p.Lys1102Ter)
c.3205A>T (p.Lys1069Ter)
c.3142A>T (p.Lys1048Ter)
c.3007A>T (p.Lys1003Ter)
c.3085A>T (p.Lys1029Ter)
c.2884A>T (p.Lys962Ter)
c.2983A>T (p.Lys995Ter)
c.3313A>T (p.Lys1105Ter)
c.3118A>T (p.Lys1040Ter)
c.3091A>T (p.Lys1031Ter)
c.3070A>T (p.Lys1024Ter)
c.3043A>T (p.Lys1015Ter)
c.3241A>T (p.Lys1081Ter)
c.832A>T (p.Lys278Ter)
c.2686A>T (p.Lys896Ter)
c.796A>T (p.Lys266Ter)
c.3214A>T (p.Lys1072Ter)
c.3067A>T (p.Lys1023Ter)
c.2776A>T (p.Lys926Ter)
c.2926A>T (p.Lys976Ter)
n.116A>T
c.305A>T
c.3181A>T (p.Lys1061Ter)
c.3301A>T (p.Lys1101Ter)
c.3265A>T (p.Lys1089Ter)
c.3355A>T (p.Lys1119Ter)
c.3319A>T (p.Lys1107Ter)
c.3295A>T (p.Lys1099Ter)
c.3340A>T (p.Lys1114Ter)
c.3280A>T (p.Lys1094Ter)
c.3247A>T (p.Lys1083Ter)
c.3310A>T (p.Lys1104Ter)
c.3166A>T (p.Lys1056Ter)
c.3346A>T (p.Lys1116Ter)
c.3238A>T (p.Lys1080Ter)
c.3202A>T (p.Lys1068Ter)
c.3217A>T (p.Lys1073Ter)
c.3127A>T (p.Lys1043Ter)
c.3055A>T (p.Lys1019Ter)
c.3139A>T (p.Lys1047Ter)
c.2968A>T (p.Lys990Ter)
c.3385A>T (p.Lys1129Ter)
c.3271A>T (p.Lys1091Ter)
c.3253A>T (p.Lys1085Ter)
c.3325A>T (p.Lys1109Ter)
c.2785A>T (p.Lys929Ter)
c.3112A>T (p.Lys1038Ter)
c.3133A>T (p.Lys1045Ter)
dbSNP
4g.113333098A>CCA357935996ANK2c.3410A>C (p.Lys1137Thr)
c.3350A>C (p.Lys1117Thr)
n.1452A>C
n.906A>C
n.114A>C
n.6532A>C
n.4906A>C
n.26A>C
n.885A>C
n.2282A>C
n.1649A>C
n.995A>C
n.1413A>C
n.1864A>C
c.3269A>C (p.Lys1090Thr)
c.3107A>C (p.Lys1036Thr)
c.656A>C (p.Lys219Thr)
c.3083A>C (p.Lys1028Thr)
c.3170A>C (p.Lys1057Thr)
c.3305A>C (p.Lys1102Thr)
c.3206A>C (p.Lys1069Thr)
c.3143A>C (p.Lys1048Thr)
c.3008A>C (p.Lys1003Thr)
c.3086A>C (p.Lys1029Thr)
c.2885A>C (p.Lys962Thr)
c.2984A>C (p.Lys995Thr)
c.3314A>C (p.Lys1105Thr)
c.3119A>C (p.Lys1040Thr)
c.3092A>C (p.Lys1031Thr)
c.3071A>C (p.Lys1024Thr)
c.3044A>C (p.Lys1015Thr)
c.3242A>C (p.Lys1081Thr)
c.833A>C (p.Lys278Thr)
c.2687A>C (p.Lys896Thr)
c.797A>C (p.Lys266Thr)
c.3215A>C (p.Lys1072Thr)
c.3068A>C (p.Lys1023Thr)
c.2777A>C (p.Lys926Thr)
c.2927A>C (p.Lys976Thr)
n.117A>C
c.306A>C
c.3182A>C (p.Lys1061Thr)
c.3302A>C (p.Lys1101Thr)
c.3266A>C (p.Lys1089Thr)
c.3356A>C (p.Lys1119Thr)
c.3320A>C (p.Lys1107Thr)
c.3296A>C (p.Lys1099Thr)
c.3341A>C (p.Lys1114Thr)
c.3281A>C (p.Lys1094Thr)
c.3248A>C (p.Lys1083Thr)
c.3311A>C (p.Lys1104Thr)
c.3167A>C (p.Lys1056Thr)
c.3347A>C (p.Lys1116Thr)
c.3239A>C (p.Lys1080Thr)
c.3203A>C (p.Lys1068Thr)
c.3218A>C (p.Lys1073Thr)
c.3128A>C (p.Lys1043Thr)
c.3056A>C (p.Lys1019Thr)
c.3140A>C (p.Lys1047Thr)
c.2969A>C (p.Lys990Thr)
c.3386A>C (p.Lys1129Thr)
c.3272A>C (p.Lys1091Thr)
c.3254A>C (p.Lys1085Thr)
c.3326A>C (p.Lys1109Thr)
c.2786A>C (p.Lys929Thr)
c.3113A>C (p.Lys1038Thr)
c.3134A>C (p.Lys1045Thr)
4g.113333098A>GCA357935998ANK2c.3410A>G (p.Lys1137Arg)
c.3350A>G (p.Lys1117Arg)
n.1452A>G
n.906A>G
n.114A>G
n.6532A>G
n.4906A>G
n.26A>G
n.885A>G
n.2282A>G
n.1649A>G
n.995A>G
n.1413A>G
n.1864A>G
c.3269A>G (p.Lys1090Arg)
c.3107A>G (p.Lys1036Arg)
c.656A>G (p.Lys219Arg)
c.3083A>G (p.Lys1028Arg)
c.3170A>G (p.Lys1057Arg)
c.3305A>G (p.Lys1102Arg)
c.3206A>G (p.Lys1069Arg)
c.3143A>G (p.Lys1048Arg)
c.3008A>G (p.Lys1003Arg)
c.3086A>G (p.Lys1029Arg)
c.2885A>G (p.Lys962Arg)
c.2984A>G (p.Lys995Arg)
c.3314A>G (p.Lys1105Arg)
c.3119A>G (p.Lys1040Arg)
c.3092A>G (p.Lys1031Arg)
c.3071A>G (p.Lys1024Arg)
c.3044A>G (p.Lys1015Arg)
c.3242A>G (p.Lys1081Arg)
c.833A>G (p.Lys278Arg)
c.2687A>G (p.Lys896Arg)
c.797A>G (p.Lys266Arg)
c.3215A>G (p.Lys1072Arg)
c.3068A>G (p.Lys1023Arg)
c.2777A>G (p.Lys926Arg)
c.2927A>G (p.Lys976Arg)
n.117A>G
c.306A>G
c.3182A>G (p.Lys1061Arg)
c.3302A>G (p.Lys1101Arg)
c.3266A>G (p.Lys1089Arg)
c.3356A>G (p.Lys1119Arg)
c.3320A>G (p.Lys1107Arg)
c.3296A>G (p.Lys1099Arg)
c.3341A>G (p.Lys1114Arg)
c.3281A>G (p.Lys1094Arg)
c.3248A>G (p.Lys1083Arg)
c.3311A>G (p.Lys1104Arg)
c.3167A>G (p.Lys1056Arg)
c.3347A>G (p.Lys1116Arg)
c.3239A>G (p.Lys1080Arg)
c.3203A>G (p.Lys1068Arg)
c.3218A>G (p.Lys1073Arg)
c.3128A>G (p.Lys1043Arg)
c.3056A>G (p.Lys1019Arg)
c.3140A>G (p.Lys1047Arg)
c.2969A>G (p.Lys990Arg)
c.3386A>G (p.Lys1129Arg)
c.3272A>G (p.Lys1091Arg)
c.3254A>G (p.Lys1085Arg)
c.3326A>G (p.Lys1109Arg)
c.2786A>G (p.Lys929Arg)
c.3113A>G (p.Lys1038Arg)
c.3134A>G (p.Lys1045Arg)
dbSNP gnomAD v4
4g.113333098A>TCA357935999ANK2c.3410A>T (p.Lys1137Met)
c.3350A>T (p.Lys1117Met)
n.1452A>T
n.906A>T
n.114A>T
n.6532A>T
n.4906A>T
n.26A>T
n.885A>T
n.2282A>T
n.1649A>T
n.995A>T
n.1413A>T
n.1864A>T
c.3269A>T (p.Lys1090Met)
c.3107A>T (p.Lys1036Met)
c.656A>T (p.Lys219Met)
c.3083A>T (p.Lys1028Met)
c.3170A>T (p.Lys1057Met)
c.3305A>T (p.Lys1102Met)
c.3206A>T (p.Lys1069Met)
c.3143A>T (p.Lys1048Met)
c.3008A>T (p.Lys1003Met)
c.3086A>T (p.Lys1029Met)
c.2885A>T (p.Lys962Met)
c.2984A>T (p.Lys995Met)
c.3314A>T (p.Lys1105Met)
c.3119A>T (p.Lys1040Met)
c.3092A>T (p.Lys1031Met)
c.3071A>T (p.Lys1024Met)
c.3044A>T (p.Lys1015Met)
c.3242A>T (p.Lys1081Met)
c.833A>T (p.Lys278Met)
c.2687A>T (p.Lys896Met)
c.797A>T (p.Lys266Met)
c.3215A>T (p.Lys1072Met)
c.3068A>T (p.Lys1023Met)
c.2777A>T (p.Lys926Met)
c.2927A>T (p.Lys976Met)
n.117A>T
c.306A>T
c.3182A>T (p.Lys1061Met)
c.3302A>T (p.Lys1101Met)
c.3266A>T (p.Lys1089Met)
c.3356A>T (p.Lys1119Met)
c.3320A>T (p.Lys1107Met)
c.3296A>T (p.Lys1099Met)
c.3341A>T (p.Lys1114Met)
c.3281A>T (p.Lys1094Met)
c.3248A>T (p.Lys1083Met)
c.3311A>T (p.Lys1104Met)
c.3167A>T (p.Lys1056Met)
c.3347A>T (p.Lys1116Met)
c.3239A>T (p.Lys1080Met)
c.3203A>T (p.Lys1068Met)
c.3218A>T (p.Lys1073Met)
c.3128A>T (p.Lys1043Met)
c.3056A>T (p.Lys1019Met)
c.3140A>T (p.Lys1047Met)
c.2969A>T (p.Lys990Met)
c.3386A>T (p.Lys1129Met)
c.3272A>T (p.Lys1091Met)
c.3254A>T (p.Lys1085Met)
c.3326A>T (p.Lys1109Met)
c.2786A>T (p.Lys929Met)
c.3113A>T (p.Lys1038Met)
c.3134A>T (p.Lys1045Met)
dbSNP
4g.113333099G>ACA10619943ANK2c.3411G>A (p.Lys1137=)
c.3351G>A (p.Lys1117=)
n.1453G>A
n.907G>A
n.115G>A
n.6533G>A
n.4907G>A
n.27G>A
n.886G>A
n.2283G>A
n.1650G>A
n.996G>A
n.1414G>A
n.1865G>A
c.3270G>A (p.Lys1090=)
c.3108G>A (p.Lys1036=)
c.657G>A (p.Lys219=)
c.3084G>A (p.Lys1028=)
c.3171G>A (p.Lys1057=)
c.3306G>A (p.Lys1102=)
c.3207G>A (p.Lys1069=)
c.3144G>A (p.Lys1048=)
c.3009G>A (p.Lys1003=)
c.3087G>A (p.Lys1029=)
c.2886G>A (p.Lys962=)
c.2985G>A (p.Lys995=)
c.3315G>A (p.Lys1105=)
c.3120G>A (p.Lys1040=)
c.3093G>A (p.Lys1031=)
c.3072G>A (p.Lys1024=)
c.3045G>A (p.Lys1015=)
c.3243G>A (p.Lys1081=)
c.834G>A (p.Lys278=)
c.2688G>A (p.Lys896=)
c.798G>A (p.Lys266=)
c.3216G>A (p.Lys1072=)
c.3069G>A (p.Lys1023=)
c.2778G>A (p.Lys926=)
c.2928G>A (p.Lys976=)
n.118G>A
c.307G>A
c.3183G>A (p.Lys1061=)
c.3303G>A (p.Lys1101=)
c.3267G>A (p.Lys1089=)
c.3357G>A (p.Lys1119=)
c.3321G>A (p.Lys1107=)
c.3297G>A (p.Lys1099=)
c.3342G>A (p.Lys1114=)
c.3282G>A (p.Lys1094=)
c.3249G>A (p.Lys1083=)
c.3312G>A (p.Lys1104=)
c.3168G>A (p.Lys1056=)
c.3348G>A (p.Lys1116=)
c.3240G>A (p.Lys1080=)
c.3204G>A (p.Lys1068=)
c.3219G>A (p.Lys1073=)
c.3129G>A (p.Lys1043=)
c.3057G>A (p.Lys1019=)
c.3141G>A (p.Lys1047=)
c.2970G>A (p.Lys990=)
c.3387G>A (p.Lys1129=)
c.3273G>A (p.Lys1091=)
c.3255G>A (p.Lys1085=)
c.3327G>A (p.Lys1109=)
c.2787G>A (p.Lys929=)
c.3114G>A (p.Lys1038=)
c.3135G>A (p.Lys1045=)
ClinVar dbSNP
4g.113333099G>CCA357936003ANK2c.3411G>C (p.Lys1137Asn)
c.3351G>C (p.Lys1117Asn)
n.1453G>C
n.907G>C
n.115G>C
n.6533G>C
n.4907G>C
n.27G>C
n.886G>C
n.2283G>C
n.1650G>C
n.996G>C
n.1414G>C
n.1865G>C
c.3270G>C (p.Lys1090Asn)
c.3108G>C (p.Lys1036Asn)
c.657G>C (p.Lys219Asn)
c.3084G>C (p.Lys1028Asn)
c.3171G>C (p.Lys1057Asn)
c.3306G>C (p.Lys1102Asn)
c.3207G>C (p.Lys1069Asn)
c.3144G>C (p.Lys1048Asn)
c.3009G>C (p.Lys1003Asn)
c.3087G>C (p.Lys1029Asn)
c.2886G>C (p.Lys962Asn)
c.2985G>C (p.Lys995Asn)
c.3315G>C (p.Lys1105Asn)
c.3120G>C (p.Lys1040Asn)
c.3093G>C (p.Lys1031Asn)
c.3072G>C (p.Lys1024Asn)
c.3045G>C (p.Lys1015Asn)
c.3243G>C (p.Lys1081Asn)
c.834G>C (p.Lys278Asn)
c.2688G>C (p.Lys896Asn)
c.798G>C (p.Lys266Asn)
c.3216G>C (p.Lys1072Asn)
c.3069G>C (p.Lys1023Asn)
c.2778G>C (p.Lys926Asn)
c.2928G>C (p.Lys976Asn)
n.118G>C
c.307G>C
c.3183G>C (p.Lys1061Asn)
c.3303G>C (p.Lys1101Asn)
c.3267G>C (p.Lys1089Asn)
c.3357G>C (p.Lys1119Asn)
c.3321G>C (p.Lys1107Asn)
c.3297G>C (p.Lys1099Asn)
c.3342G>C (p.Lys1114Asn)
c.3282G>C (p.Lys1094Asn)
c.3249G>C (p.Lys1083Asn)
c.3312G>C (p.Lys1104Asn)
c.3168G>C (p.Lys1056Asn)
c.3348G>C (p.Lys1116Asn)
c.3240G>C (p.Lys1080Asn)
c.3204G>C (p.Lys1068Asn)
c.3219G>C (p.Lys1073Asn)
c.3129G>C (p.Lys1043Asn)
c.3057G>C (p.Lys1019Asn)
c.3141G>C (p.Lys1047Asn)
c.2970G>C (p.Lys990Asn)
c.3387G>C (p.Lys1129Asn)
c.3273G>C (p.Lys1091Asn)
c.3255G>C (p.Lys1085Asn)
c.3327G>C (p.Lys1109Asn)
c.2787G>C (p.Lys929Asn)
c.3114G>C (p.Lys1038Asn)
c.3135G>C (p.Lys1045Asn)
dbSNP
4g.113333099G>TCA357936004ANK2c.3411G>T (p.Lys1137Asn)
c.3351G>T (p.Lys1117Asn)
n.1453G>T
n.907G>T
n.115G>T
n.6533G>T
n.4907G>T
n.27G>T
n.886G>T
n.2283G>T
n.1650G>T
n.996G>T
n.1414G>T
n.1865G>T
c.3270G>T (p.Lys1090Asn)
c.3108G>T (p.Lys1036Asn)
c.657G>T (p.Lys219Asn)
c.3084G>T (p.Lys1028Asn)
c.3171G>T (p.Lys1057Asn)
c.3306G>T (p.Lys1102Asn)
c.3207G>T (p.Lys1069Asn)
c.3144G>T (p.Lys1048Asn)
c.3009G>T (p.Lys1003Asn)
c.3087G>T (p.Lys1029Asn)
c.2886G>T (p.Lys962Asn)
c.2985G>T (p.Lys995Asn)
c.3315G>T (p.Lys1105Asn)
c.3120G>T (p.Lys1040Asn)
c.3093G>T (p.Lys1031Asn)
c.3072G>T (p.Lys1024Asn)
c.3045G>T (p.Lys1015Asn)
c.3243G>T (p.Lys1081Asn)
c.834G>T (p.Lys278Asn)
c.2688G>T (p.Lys896Asn)
c.798G>T (p.Lys266Asn)
c.3216G>T (p.Lys1072Asn)
c.3069G>T (p.Lys1023Asn)
c.2778G>T (p.Lys926Asn)
c.2928G>T (p.Lys976Asn)
n.118G>T
c.307G>T
c.3183G>T (p.Lys1061Asn)
c.3303G>T (p.Lys1101Asn)
c.3267G>T (p.Lys1089Asn)
c.3357G>T (p.Lys1119Asn)
c.3321G>T (p.Lys1107Asn)
c.3297G>T (p.Lys1099Asn)
c.3342G>T (p.Lys1114Asn)
c.3282G>T (p.Lys1094Asn)
c.3249G>T (p.Lys1083Asn)
c.3312G>T (p.Lys1104Asn)
c.3168G>T (p.Lys1056Asn)
c.3348G>T (p.Lys1116Asn)
c.3240G>T (p.Lys1080Asn)
c.3204G>T (p.Lys1068Asn)
c.3219G>T (p.Lys1073Asn)
c.3129G>T (p.Lys1043Asn)
c.3057G>T (p.Lys1019Asn)
c.3141G>T (p.Lys1047Asn)
c.2970G>T (p.Lys990Asn)
c.3387G>T (p.Lys1129Asn)
c.3273G>T (p.Lys1091Asn)
c.3255G>T (p.Lys1085Asn)
c.3327G>T (p.Lys1109Asn)
c.2787G>T (p.Lys929Asn)
c.3114G>T (p.Lys1038Asn)
c.3135G>T (p.Lys1045Asn)
4g.113333100G>ACA357936005ANK2c.3412G>A (p.Glu1138Lys)
c.3352G>A (p.Glu1118Lys)
n.1454G>A
n.908G>A
n.116G>A
n.6534G>A
n.4908G>A
n.28G>A
n.887G>A
n.2284G>A
n.1651G>A
n.997G>A
n.1415G>A
n.1866G>A
c.3271G>A (p.Glu1091Lys)
c.3109G>A (p.Glu1037Lys)
c.658G>A (p.Glu220Lys)
c.3085G>A (p.Glu1029Lys)
c.3172G>A (p.Glu1058Lys)
c.3307G>A (p.Glu1103Lys)
c.3208G>A (p.Glu1070Lys)
c.3145G>A (p.Glu1049Lys)
c.3010G>A (p.Glu1004Lys)
c.3088G>A (p.Glu1030Lys)
c.2887G>A (p.Glu963Lys)
c.2986G>A (p.Glu996Lys)
c.3316G>A (p.Glu1106Lys)
c.3121G>A (p.Glu1041Lys)
c.3094G>A (p.Glu1032Lys)
c.3073G>A (p.Glu1025Lys)
c.3046G>A (p.Glu1016Lys)
c.3244G>A (p.Glu1082Lys)
c.835G>A (p.Glu279Lys)
c.2689G>A (p.Glu897Lys)
c.799G>A (p.Glu267Lys)
c.3217G>A (p.Glu1073Lys)
c.3070G>A (p.Glu1024Lys)
c.2779G>A (p.Glu927Lys)
c.2929G>A (p.Glu977Lys)
n.119G>A
c.308G>A
c.3184G>A (p.Glu1062Lys)
c.3304G>A (p.Glu1102Lys)
c.3268G>A (p.Glu1090Lys)
c.3358G>A (p.Glu1120Lys)
c.3322G>A (p.Glu1108Lys)
c.3298G>A (p.Glu1100Lys)
c.3343G>A (p.Glu1115Lys)
c.3283G>A (p.Glu1095Lys)
c.3250G>A (p.Glu1084Lys)
c.3313G>A (p.Glu1105Lys)
c.3169G>A (p.Glu1057Lys)
c.3349G>A (p.Glu1117Lys)
c.3241G>A (p.Glu1081Lys)
c.3205G>A (p.Glu1069Lys)
c.3220G>A (p.Glu1074Lys)
c.3130G>A (p.Glu1044Lys)
c.3058G>A (p.Glu1020Lys)
c.3142G>A (p.Glu1048Lys)
c.2971G>A (p.Glu991Lys)
c.3388G>A (p.Glu1130Lys)
c.3274G>A (p.Glu1092Lys)
c.3256G>A (p.Glu1086Lys)
c.3328G>A (p.Glu1110Lys)
c.2788G>A (p.Glu930Lys)
c.3115G>A (p.Glu1039Lys)
c.3136G>A (p.Glu1046Lys)
dbSNP
4g.113333100G>CCA357936007ANK2c.3412G>C (p.Glu1138Gln)
c.3352G>C (p.Glu1118Gln)
n.1454G>C
n.908G>C
n.116G>C
n.6534G>C
n.4908G>C
n.28G>C
n.887G>C
n.2284G>C
n.1651G>C
n.997G>C
n.1415G>C
n.1866G>C
c.3271G>C (p.Glu1091Gln)
c.3109G>C (p.Glu1037Gln)
c.658G>C (p.Glu220Gln)
c.3085G>C (p.Glu1029Gln)
c.3172G>C (p.Glu1058Gln)
c.3307G>C (p.Glu1103Gln)
c.3208G>C (p.Glu1070Gln)
c.3145G>C (p.Glu1049Gln)
c.3010G>C (p.Glu1004Gln)
c.3088G>C (p.Glu1030Gln)
c.2887G>C (p.Glu963Gln)
c.2986G>C (p.Glu996Gln)
c.3316G>C (p.Glu1106Gln)
c.3121G>C (p.Glu1041Gln)
c.3094G>C (p.Glu1032Gln)
c.3073G>C (p.Glu1025Gln)
c.3046G>C (p.Glu1016Gln)
c.3244G>C (p.Glu1082Gln)
c.835G>C (p.Glu279Gln)
c.2689G>C (p.Glu897Gln)
c.799G>C (p.Glu267Gln)
c.3217G>C (p.Glu1073Gln)
c.3070G>C (p.Glu1024Gln)
c.2779G>C (p.Glu927Gln)
c.2929G>C (p.Glu977Gln)
n.119G>C
c.308G>C
c.3184G>C (p.Glu1062Gln)
c.3304G>C (p.Glu1102Gln)
c.3268G>C (p.Glu1090Gln)
c.3358G>C (p.Glu1120Gln)
c.3322G>C (p.Glu1108Gln)
c.3298G>C (p.Glu1100Gln)
c.3343G>C (p.Glu1115Gln)
c.3283G>C (p.Glu1095Gln)
c.3250G>C (p.Glu1084Gln)
c.3313G>C (p.Glu1105Gln)
c.3169G>C (p.Glu1057Gln)
c.3349G>C (p.Glu1117Gln)
c.3241G>C (p.Glu1081Gln)
c.3205G>C (p.Glu1069Gln)
c.3220G>C (p.Glu1074Gln)
c.3130G>C (p.Glu1044Gln)
c.3058G>C (p.Glu1020Gln)
c.3142G>C (p.Glu1048Gln)
c.2971G>C (p.Glu991Gln)
c.3388G>C (p.Glu1130Gln)
c.3274G>C (p.Glu1092Gln)
c.3256G>C (p.Glu1086Gln)
c.3328G>C (p.Glu1110Gln)
c.2788G>C (p.Glu930Gln)
c.3115G>C (p.Glu1039Gln)
c.3136G>C (p.Glu1046Gln)
4g.113333100G>TCA357936008ANK2c.3412G>T (p.Glu1138Ter)
c.3352G>T (p.Glu1118Ter)
n.1454G>T
n.908G>T
n.116G>T
n.6534G>T
n.4908G>T
n.28G>T
n.887G>T
n.2284G>T
n.1651G>T
n.997G>T
n.1415G>T
n.1866G>T
c.3271G>T (p.Glu1091Ter)
c.3109G>T (p.Glu1037Ter)
c.658G>T (p.Glu220Ter)
c.3085G>T (p.Glu1029Ter)
c.3172G>T (p.Glu1058Ter)
c.3307G>T (p.Glu1103Ter)
c.3208G>T (p.Glu1070Ter)
c.3145G>T (p.Glu1049Ter)
c.3010G>T (p.Glu1004Ter)
c.3088G>T (p.Glu1030Ter)
c.2887G>T (p.Glu963Ter)
c.2986G>T (p.Glu996Ter)
c.3316G>T (p.Glu1106Ter)
c.3121G>T (p.Glu1041Ter)
c.3094G>T (p.Glu1032Ter)
c.3073G>T (p.Glu1025Ter)
c.3046G>T (p.Glu1016Ter)
c.3244G>T (p.Glu1082Ter)
c.835G>T (p.Glu279Ter)
c.2689G>T (p.Glu897Ter)
c.799G>T (p.Glu267Ter)
c.3217G>T (p.Glu1073Ter)
c.3070G>T (p.Glu1024Ter)
c.2779G>T (p.Glu927Ter)
c.2929G>T (p.Glu977Ter)
n.119G>T
c.308G>T
c.3184G>T (p.Glu1062Ter)
c.3304G>T (p.Glu1102Ter)
c.3268G>T (p.Glu1090Ter)
c.3358G>T (p.Glu1120Ter)
c.3322G>T (p.Glu1108Ter)
c.3298G>T (p.Glu1100Ter)
c.3343G>T (p.Glu1115Ter)
c.3283G>T (p.Glu1095Ter)
c.3250G>T (p.Glu1084Ter)
c.3313G>T (p.Glu1105Ter)
c.3169G>T (p.Glu1057Ter)
c.3349G>T (p.Glu1117Ter)
c.3241G>T (p.Glu1081Ter)
c.3205G>T (p.Glu1069Ter)
c.3220G>T (p.Glu1074Ter)
c.3130G>T (p.Glu1044Ter)
c.3058G>T (p.Glu1020Ter)
c.3142G>T (p.Glu1048Ter)
c.2971G>T (p.Glu991Ter)
c.3388G>T (p.Glu1130Ter)
c.3274G>T (p.Glu1092Ter)
c.3256G>T (p.Glu1086Ter)
c.3328G>T (p.Glu1110Ter)
c.2788G>T (p.Glu930Ter)
c.3115G>T (p.Glu1039Ter)
c.3136G>T (p.Glu1046Ter)
4g.113333101A>CCA357936010ANK2c.3413A>C (p.Glu1138Ala)
c.3353A>C (p.Glu1118Ala)
n.1455A>C
n.909A>C
n.117A>C
n.6535A>C
n.4909A>C
n.29A>C
n.888A>C
n.2285A>C
n.1652A>C
n.998A>C
n.1416A>C
n.1867A>C
c.3272A>C (p.Glu1091Ala)
c.3110A>C (p.Glu1037Ala)
c.659A>C (p.Glu220Ala)
c.3086A>C (p.Glu1029Ala)
c.3173A>C (p.Glu1058Ala)
c.3308A>C (p.Glu1103Ala)
c.3209A>C (p.Glu1070Ala)
c.3146A>C (p.Glu1049Ala)
c.3011A>C (p.Glu1004Ala)
c.3089A>C (p.Glu1030Ala)
c.2888A>C (p.Glu963Ala)
c.2987A>C (p.Glu996Ala)
c.3317A>C (p.Glu1106Ala)
c.3122A>C (p.Glu1041Ala)
c.3095A>C (p.Glu1032Ala)
c.3074A>C (p.Glu1025Ala)
c.3047A>C (p.Glu1016Ala)
c.3245A>C (p.Glu1082Ala)
c.836A>C (p.Glu279Ala)
c.2690A>C (p.Glu897Ala)
c.800A>C (p.Glu267Ala)
c.3218A>C (p.Glu1073Ala)
c.3071A>C (p.Glu1024Ala)
c.2780A>C (p.Glu927Ala)
c.2930A>C (p.Glu977Ala)
n.120A>C
c.309A>C
c.3185A>C (p.Glu1062Ala)
c.3305A>C (p.Glu1102Ala)
c.3269A>C (p.Glu1090Ala)
c.3359A>C (p.Glu1120Ala)
c.3323A>C (p.Glu1108Ala)
c.3299A>C (p.Glu1100Ala)
c.3344A>C (p.Glu1115Ala)
c.3284A>C (p.Glu1095Ala)
c.3251A>C (p.Glu1084Ala)
c.3314A>C (p.Glu1105Ala)
c.3170A>C (p.Glu1057Ala)
c.3350A>C (p.Glu1117Ala)
c.3242A>C (p.Glu1081Ala)
c.3206A>C (p.Glu1069Ala)
c.3221A>C (p.Glu1074Ala)
c.3131A>C (p.Glu1044Ala)
c.3059A>C (p.Glu1020Ala)
c.3143A>C (p.Glu1048Ala)
c.2972A>C (p.Glu991Ala)
c.3389A>C (p.Glu1130Ala)
c.3275A>C (p.Glu1092Ala)
c.3257A>C (p.Glu1086Ala)
c.3329A>C (p.Glu1110Ala)
c.2789A>C (p.Glu930Ala)
c.3116A>C (p.Glu1039Ala)
c.3137A>C (p.Glu1046Ala)
4g.113333101A>GCA357936012ANK2c.3413A>G (p.Glu1138Gly)
c.3353A>G (p.Glu1118Gly)
n.1455A>G
n.909A>G
n.117A>G
n.6535A>G
n.4909A>G
n.29A>G
n.888A>G
n.2285A>G
n.1652A>G
n.998A>G
n.1416A>G
n.1867A>G
c.3272A>G (p.Glu1091Gly)
c.3110A>G (p.Glu1037Gly)
c.659A>G (p.Glu220Gly)
c.3086A>G (p.Glu1029Gly)
c.3173A>G (p.Glu1058Gly)
c.3308A>G (p.Glu1103Gly)
c.3209A>G (p.Glu1070Gly)
c.3146A>G (p.Glu1049Gly)
c.3011A>G (p.Glu1004Gly)
c.3089A>G (p.Glu1030Gly)
c.2888A>G (p.Glu963Gly)
c.2987A>G (p.Glu996Gly)
c.3317A>G (p.Glu1106Gly)
c.3122A>G (p.Glu1041Gly)
c.3095A>G (p.Glu1032Gly)
c.3074A>G (p.Glu1025Gly)
c.3047A>G (p.Glu1016Gly)
c.3245A>G (p.Glu1082Gly)
c.836A>G (p.Glu279Gly)
c.2690A>G (p.Glu897Gly)
c.800A>G (p.Glu267Gly)
c.3218A>G (p.Glu1073Gly)
c.3071A>G (p.Glu1024Gly)
c.2780A>G (p.Glu927Gly)
c.2930A>G (p.Glu977Gly)
n.120A>G
c.309A>G
c.3185A>G (p.Glu1062Gly)
c.3305A>G (p.Glu1102Gly)
c.3269A>G (p.Glu1090Gly)
c.3359A>G (p.Glu1120Gly)
c.3323A>G (p.Glu1108Gly)
c.3299A>G (p.Glu1100Gly)
c.3344A>G (p.Glu1115Gly)
c.3284A>G (p.Glu1095Gly)
c.3251A>G (p.Glu1084Gly)
c.3314A>G (p.Glu1105Gly)
c.3170A>G (p.Glu1057Gly)
c.3350A>G (p.Glu1117Gly)
c.3242A>G (p.Glu1081Gly)
c.3206A>G (p.Glu1069Gly)
c.3221A>G (p.Glu1074Gly)
c.3131A>G (p.Glu1044Gly)
c.3059A>G (p.Glu1020Gly)
c.3143A>G (p.Glu1048Gly)
c.2972A>G (p.Glu991Gly)
c.3389A>G (p.Glu1130Gly)
c.3275A>G (p.Glu1092Gly)
c.3257A>G (p.Glu1086Gly)
c.3329A>G (p.Glu1110Gly)
c.2789A>G (p.Glu930Gly)
c.3116A>G (p.Glu1039Gly)
c.3137A>G (p.Glu1046Gly)
dbSNP
4g.113333101A>TCA357936015ANK2c.3413A>T (p.Glu1138Val)
c.3353A>T (p.Glu1118Val)
n.1455A>T
n.909A>T
n.117A>T
n.6535A>T
n.4909A>T
n.29A>T
n.888A>T
n.2285A>T
n.1652A>T
n.998A>T
n.1416A>T
n.1867A>T
c.3272A>T (p.Glu1091Val)
c.3110A>T (p.Glu1037Val)
c.659A>T (p.Glu220Val)
c.3086A>T (p.Glu1029Val)
c.3173A>T (p.Glu1058Val)
c.3308A>T (p.Glu1103Val)
c.3209A>T (p.Glu1070Val)
c.3146A>T (p.Glu1049Val)
c.3011A>T (p.Glu1004Val)
c.3089A>T (p.Glu1030Val)
c.2888A>T (p.Glu963Val)
c.2987A>T (p.Glu996Val)
c.3317A>T (p.Glu1106Val)
c.3122A>T (p.Glu1041Val)
c.3095A>T (p.Glu1032Val)
c.3074A>T (p.Glu1025Val)
c.3047A>T (p.Glu1016Val)
c.3245A>T (p.Glu1082Val)
c.836A>T (p.Glu279Val)
c.2690A>T (p.Glu897Val)
c.800A>T (p.Glu267Val)
c.3218A>T (p.Glu1073Val)
c.3071A>T (p.Glu1024Val)
c.2780A>T (p.Glu927Val)
c.2930A>T (p.Glu977Val)
n.120A>T
c.309A>T
c.3185A>T (p.Glu1062Val)
c.3305A>T (p.Glu1102Val)
c.3269A>T (p.Glu1090Val)
c.3359A>T (p.Glu1120Val)
c.3323A>T (p.Glu1108Val)
c.3299A>T (p.Glu1100Val)
c.3344A>T (p.Glu1115Val)
c.3284A>T (p.Glu1095Val)
c.3251A>T (p.Glu1084Val)
c.3314A>T (p.Glu1105Val)
c.3170A>T (p.Glu1057Val)
c.3350A>T (p.Glu1117Val)
c.3242A>T (p.Glu1081Val)
c.3206A>T (p.Glu1069Val)
c.3221A>T (p.Glu1074Val)
c.3131A>T (p.Glu1044Val)
c.3059A>T (p.Glu1020Val)
c.3143A>T (p.Glu1048Val)
c.2972A>T (p.Glu991Val)
c.3389A>T (p.Glu1130Val)
c.3275A>T (p.Glu1092Val)
c.3257A>T (p.Glu1086Val)
c.3329A>T (p.Glu1110Val)
c.2789A>T (p.Glu930Val)
c.3116A>T (p.Glu1039Val)
c.3137A>T (p.Glu1046Val)
dbSNP
4g.113333102A>CCA357936019ANK2c.3414A>C (p.Glu1138Asp)
c.3354A>C (p.Glu1118Asp)
n.1456A>C
n.910A>C
n.118A>C
n.6536A>C
n.4910A>C
n.30A>C
n.889A>C
n.2286A>C
n.1653A>C
n.999A>C
n.1417A>C
n.1868A>C
c.3273A>C (p.Glu1091Asp)
c.3111A>C (p.Glu1037Asp)
c.660A>C (p.Glu220Asp)
c.3087A>C (p.Glu1029Asp)
c.3174A>C (p.Glu1058Asp)
c.3309A>C (p.Glu1103Asp)
c.3210A>C (p.Glu1070Asp)
c.3147A>C (p.Glu1049Asp)
c.3012A>C (p.Glu1004Asp)
c.3090A>C (p.Glu1030Asp)
c.2889A>C (p.Glu963Asp)
c.2988A>C (p.Glu996Asp)
c.3318A>C (p.Glu1106Asp)
c.3123A>C (p.Glu1041Asp)
c.3096A>C (p.Glu1032Asp)
c.3075A>C (p.Glu1025Asp)
c.3048A>C (p.Glu1016Asp)
c.3246A>C (p.Glu1082Asp)
c.837A>C (p.Glu279Asp)
c.2691A>C (p.Glu897Asp)
c.801A>C (p.Glu267Asp)
c.3219A>C (p.Glu1073Asp)
c.3072A>C (p.Glu1024Asp)
c.2781A>C (p.Glu927Asp)
c.2931A>C (p.Glu977Asp)
n.121A>C
c.310A>C
c.3186A>C (p.Glu1062Asp)
c.3306A>C (p.Glu1102Asp)
c.3270A>C (p.Glu1090Asp)
c.3360A>C (p.Glu1120Asp)
c.3324A>C (p.Glu1108Asp)
c.3300A>C (p.Glu1100Asp)
c.3345A>C (p.Glu1115Asp)
c.3285A>C (p.Glu1095Asp)
c.3252A>C (p.Glu1084Asp)
c.3315A>C (p.Glu1105Asp)
c.3171A>C (p.Glu1057Asp)
c.3351A>C (p.Glu1117Asp)
c.3243A>C (p.Glu1081Asp)
c.3207A>C (p.Glu1069Asp)
c.3222A>C (p.Glu1074Asp)
c.3132A>C (p.Glu1044Asp)
c.3060A>C (p.Glu1020Asp)
c.3144A>C (p.Glu1048Asp)
c.2973A>C (p.Glu991Asp)
c.3390A>C (p.Glu1130Asp)
c.3276A>C (p.Glu1092Asp)
c.3258A>C (p.Glu1086Asp)
c.3330A>C (p.Glu1110Asp)
c.2790A>C (p.Glu930Asp)
c.3117A>C (p.Glu1039Asp)
c.3138A>C (p.Glu1046Asp)
4g.113333102A>GCA440842839ANK2c.3414A>G (p.Glu1138=)
c.3354A>G (p.Glu1118=)
n.1456A>G
n.910A>G
n.118A>G
n.6536A>G
n.4910A>G
n.30A>G
n.889A>G
n.2286A>G
n.1653A>G
n.999A>G
n.1417A>G
n.1868A>G
c.3273A>G (p.Glu1091=)
c.3111A>G (p.Glu1037=)
c.660A>G (p.Glu220=)
c.3087A>G (p.Glu1029=)
c.3174A>G (p.Glu1058=)
c.3309A>G (p.Glu1103=)
c.3210A>G (p.Glu1070=)
c.3147A>G (p.Glu1049=)
c.3012A>G (p.Glu1004=)
c.3090A>G (p.Glu1030=)
c.2889A>G (p.Glu963=)
c.2988A>G (p.Glu996=)
c.3318A>G (p.Glu1106=)
c.3123A>G (p.Glu1041=)
c.3096A>G (p.Glu1032=)
c.3075A>G (p.Glu1025=)
c.3048A>G (p.Glu1016=)
c.3246A>G (p.Glu1082=)
c.837A>G (p.Glu279=)
c.2691A>G (p.Glu897=)
c.801A>G (p.Glu267=)
c.3219A>G (p.Glu1073=)
c.3072A>G (p.Glu1024=)
c.2781A>G (p.Glu927=)
c.2931A>G (p.Glu977=)
n.121A>G
c.310A>G
c.3186A>G (p.Glu1062=)
c.3306A>G (p.Glu1102=)
c.3270A>G (p.Glu1090=)
c.3360A>G (p.Glu1120=)
c.3324A>G (p.Glu1108=)
c.3300A>G (p.Glu1100=)
c.3345A>G (p.Glu1115=)
c.3285A>G (p.Glu1095=)
c.3252A>G (p.Glu1084=)
c.3315A>G (p.Glu1105=)
c.3171A>G (p.Glu1057=)
c.3351A>G (p.Glu1117=)
c.3243A>G (p.Glu1081=)
c.3207A>G (p.Glu1069=)
c.3222A>G (p.Glu1074=)
c.3132A>G (p.Glu1044=)
c.3060A>G (p.Glu1020=)
c.3144A>G (p.Glu1048=)
c.2973A>G (p.Glu991=)
c.3390A>G (p.Glu1130=)
c.3276A>G (p.Glu1092=)
c.3258A>G (p.Glu1086=)
c.3330A>G (p.Glu1110=)
c.2790A>G (p.Glu930=)
c.3117A>G (p.Glu1039=)
c.3138A>G (p.Glu1046=)
ClinVar dbSNP gnomAD v4
4g.113333102A>TCA357936017ANK2c.3414A>T (p.Glu1138Asp)
c.3354A>T (p.Glu1118Asp)
n.1456A>T
n.910A>T
n.118A>T
n.6536A>T
n.4910A>T
n.30A>T
n.889A>T
n.2286A>T
n.1653A>T
n.999A>T
n.1417A>T
n.1868A>T
c.3273A>T (p.Glu1091Asp)
c.3111A>T (p.Glu1037Asp)
c.660A>T (p.Glu220Asp)
c.3087A>T (p.Glu1029Asp)
c.3174A>T (p.Glu1058Asp)
c.3309A>T (p.Glu1103Asp)
c.3210A>T (p.Glu1070Asp)
c.3147A>T (p.Glu1049Asp)
c.3012A>T (p.Glu1004Asp)
c.3090A>T (p.Glu1030Asp)
c.2889A>T (p.Glu963Asp)
c.2988A>T (p.Glu996Asp)
c.3318A>T (p.Glu1106Asp)
c.3123A>T (p.Glu1041Asp)
c.3096A>T (p.Glu1032Asp)
c.3075A>T (p.Glu1025Asp)
c.3048A>T (p.Glu1016Asp)
c.3246A>T (p.Glu1082Asp)
c.837A>T (p.Glu279Asp)
c.2691A>T (p.Glu897Asp)
c.801A>T (p.Glu267Asp)
c.3219A>T (p.Glu1073Asp)
c.3072A>T (p.Glu1024Asp)
c.2781A>T (p.Glu927Asp)
c.2931A>T (p.Glu977Asp)
n.121A>T
c.310A>T
c.3186A>T (p.Glu1062Asp)
c.3306A>T (p.Glu1102Asp)
c.3270A>T (p.Glu1090Asp)
c.3360A>T (p.Glu1120Asp)
c.3324A>T (p.Glu1108Asp)
c.3300A>T (p.Glu1100Asp)
c.3345A>T (p.Glu1115Asp)
c.3285A>T (p.Glu1095Asp)
c.3252A>T (p.Glu1084Asp)
c.3315A>T (p.Glu1105Asp)
c.3171A>T (p.Glu1057Asp)
c.3351A>T (p.Glu1117Asp)
c.3243A>T (p.Glu1081Asp)
c.3207A>T (p.Glu1069Asp)
c.3222A>T (p.Glu1074Asp)
c.3132A>T (p.Glu1044Asp)
c.3060A>T (p.Glu1020Asp)
c.3144A>T (p.Glu1048Asp)
c.2973A>T (p.Glu991Asp)
c.3390A>T (p.Glu1130Asp)
c.3276A>T (p.Glu1092Asp)
c.3258A>T (p.Glu1086Asp)
c.3330A>T (p.Glu1110Asp)
c.2790A>T (p.Glu930Asp)
c.3117A>T (p.Glu1039Asp)
c.3138A>T (p.Glu1046Asp)
dbSNP
4g.113333103A>CCA440842840ANK2c.3415A>C (p.Arg1139=)
c.3355A>C (p.Arg1119=)
n.1457A>C
n.911A>C
n.119A>C
n.6537A>C
n.4911A>C
n.31A>C
n.890A>C
n.2287A>C
n.1654A>C
n.1000A>C
n.1418A>C
n.1869A>C
c.3274A>C (p.Arg1092=)
c.3112A>C (p.Arg1038=)
c.661A>C (p.Arg221=)
c.3088A>C (p.Arg1030=)
c.3175A>C (p.Arg1059=)
c.3310A>C (p.Arg1104=)
c.3211A>C (p.Arg1071=)
c.3148A>C (p.Arg1050=)
c.3013A>C (p.Arg1005=)
c.3091A>C (p.Arg1031=)
c.2890A>C (p.Arg964=)
c.2989A>C (p.Arg997=)
c.3319A>C (p.Arg1107=)
c.3124A>C (p.Arg1042=)
c.3097A>C (p.Arg1033=)
c.3076A>C (p.Arg1026=)
c.3049A>C (p.Arg1017=)
c.3247A>C (p.Arg1083=)
c.838A>C (p.Arg280=)
c.2692A>C (p.Arg898=)
c.802A>C (p.Arg268=)
c.3220A>C (p.Arg1074=)
c.3073A>C (p.Arg1025=)
c.2782A>C (p.Arg928=)
c.2932A>C (p.Arg978=)
n.122A>C
c.311A>C
c.3187A>C (p.Arg1063=)
c.3307A>C (p.Arg1103=)
c.3271A>C (p.Arg1091=)
c.3361A>C (p.Arg1121=)
c.3325A>C (p.Arg1109=)
c.3301A>C (p.Arg1101=)
c.3346A>C (p.Arg1116=)
c.3286A>C (p.Arg1096=)
c.3253A>C (p.Arg1085=)
c.3316A>C (p.Arg1106=)
c.3172A>C (p.Arg1058=)
c.3352A>C (p.Arg1118=)
c.3244A>C (p.Arg1082=)
c.3208A>C (p.Arg1070=)
c.3223A>C (p.Arg1075=)
c.3133A>C (p.Arg1045=)
c.3061A>C (p.Arg1021=)
c.3145A>C (p.Arg1049=)
c.2974A>C (p.Arg992=)
c.3391A>C (p.Arg1131=)
c.3277A>C (p.Arg1093=)
c.3259A>C (p.Arg1087=)
c.3331A>C (p.Arg1111=)
c.2791A>C (p.Arg931=)
c.3118A>C (p.Arg1040=)
c.3139A>C (p.Arg1047=)
ClinVar dbSNP
4g.113333103A>GCA357936021ANK2c.3415A>G (p.Arg1139Gly)
c.3355A>G (p.Arg1119Gly)
n.1457A>G
n.911A>G
n.119A>G
n.6537A>G
n.4911A>G
n.31A>G
n.890A>G
n.2287A>G
n.1654A>G
n.1000A>G
n.1418A>G
n.1869A>G
c.3274A>G (p.Arg1092Gly)
c.3112A>G (p.Arg1038Gly)
c.661A>G (p.Arg221Gly)
c.3088A>G (p.Arg1030Gly)
c.3175A>G (p.Arg1059Gly)
c.3310A>G (p.Arg1104Gly)
c.3211A>G (p.Arg1071Gly)
c.3148A>G (p.Arg1050Gly)
c.3013A>G (p.Arg1005Gly)
c.3091A>G (p.Arg1031Gly)
c.2890A>G (p.Arg964Gly)
c.2989A>G (p.Arg997Gly)
c.3319A>G (p.Arg1107Gly)
c.3124A>G (p.Arg1042Gly)
c.3097A>G (p.Arg1033Gly)
c.3076A>G (p.Arg1026Gly)
c.3049A>G (p.Arg1017Gly)
c.3247A>G (p.Arg1083Gly)
c.838A>G (p.Arg280Gly)
c.2692A>G (p.Arg898Gly)
c.802A>G (p.Arg268Gly)
c.3220A>G (p.Arg1074Gly)
c.3073A>G (p.Arg1025Gly)
c.2782A>G (p.Arg928Gly)
c.2932A>G (p.Arg978Gly)
n.122A>G
c.311A>G
c.3187A>G (p.Arg1063Gly)
c.3307A>G (p.Arg1103Gly)
c.3271A>G (p.Arg1091Gly)
c.3361A>G (p.Arg1121Gly)
c.3325A>G (p.Arg1109Gly)
c.3301A>G (p.Arg1101Gly)
c.3346A>G (p.Arg1116Gly)
c.3286A>G (p.Arg1096Gly)
c.3253A>G (p.Arg1085Gly)
c.3316A>G (p.Arg1106Gly)
c.3172A>G (p.Arg1058Gly)
c.3352A>G (p.Arg1118Gly)
c.3244A>G (p.Arg1082Gly)
c.3208A>G (p.Arg1070Gly)
c.3223A>G (p.Arg1075Gly)
c.3133A>G (p.Arg1045Gly)
c.3061A>G (p.Arg1021Gly)
c.3145A>G (p.Arg1049Gly)
c.2974A>G (p.Arg992Gly)
c.3391A>G (p.Arg1131Gly)
c.3277A>G (p.Arg1093Gly)
c.3259A>G (p.Arg1087Gly)
c.3331A>G (p.Arg1111Gly)
c.2791A>G (p.Arg931Gly)
c.3118A>G (p.Arg1040Gly)
c.3139A>G (p.Arg1047Gly)
dbSNP
4g.113333103A>TCA357936023ANK2c.3415A>T (p.Arg1139Trp)
c.3355A>T (p.Arg1119Trp)
n.1457A>T
n.911A>T
n.119A>T
n.6537A>T
n.4911A>T
n.31A>T
n.890A>T
n.2287A>T
n.1654A>T
n.1000A>T
n.1418A>T
n.1869A>T
c.3274A>T (p.Arg1092Trp)
c.3112A>T (p.Arg1038Trp)
c.661A>T (p.Arg221Trp)
c.3088A>T (p.Arg1030Trp)
c.3175A>T (p.Arg1059Trp)
c.3310A>T (p.Arg1104Trp)
c.3211A>T (p.Arg1071Trp)
c.3148A>T (p.Arg1050Trp)
c.3013A>T (p.Arg1005Trp)
c.3091A>T (p.Arg1031Trp)
c.2890A>T (p.Arg964Trp)
c.2989A>T (p.Arg997Trp)
c.3319A>T (p.Arg1107Trp)
c.3124A>T (p.Arg1042Trp)
c.3097A>T (p.Arg1033Trp)
c.3076A>T (p.Arg1026Trp)
c.3049A>T (p.Arg1017Trp)
c.3247A>T (p.Arg1083Trp)
c.838A>T (p.Arg280Trp)
c.2692A>T (p.Arg898Trp)
c.802A>T (p.Arg268Trp)
c.3220A>T (p.Arg1074Trp)
c.3073A>T (p.Arg1025Trp)
c.2782A>T (p.Arg928Trp)
c.2932A>T (p.Arg978Trp)
n.122A>T
c.311A>T
c.3187A>T (p.Arg1063Trp)
c.3307A>T (p.Arg1103Trp)
c.3271A>T (p.Arg1091Trp)
c.3361A>T (p.Arg1121Trp)
c.3325A>T (p.Arg1109Trp)
c.3301A>T (p.Arg1101Trp)
c.3346A>T (p.Arg1116Trp)
c.3286A>T (p.Arg1096Trp)
c.3253A>T (p.Arg1085Trp)
c.3316A>T (p.Arg1106Trp)
c.3172A>T (p.Arg1058Trp)
c.3352A>T (p.Arg1118Trp)
c.3244A>T (p.Arg1082Trp)
c.3208A>T (p.Arg1070Trp)
c.3223A>T (p.Arg1075Trp)
c.3133A>T (p.Arg1045Trp)
c.3061A>T (p.Arg1021Trp)
c.3145A>T (p.Arg1049Trp)
c.2974A>T (p.Arg992Trp)
c.3391A>T (p.Arg1131Trp)
c.3277A>T (p.Arg1093Trp)
c.3259A>T (p.Arg1087Trp)
c.3331A>T (p.Arg1111Trp)
c.2791A>T (p.Arg931Trp)
c.3118A>T (p.Arg1040Trp)
c.3139A>T (p.Arg1047Trp)
dbSNP
4g.113333104G>ACA357936025ANK2c.3416G>A (p.Arg1139Lys)
c.3356G>A (p.Arg1119Lys)
n.1458G>A
n.912G>A
n.120G>A
n.6538G>A
n.4912G>A
n.32G>A
n.891G>A
n.2288G>A
n.1655G>A
n.1001G>A
n.1419G>A
n.1870G>A
c.3275G>A (p.Arg1092Lys)
c.3113G>A (p.Arg1038Lys)
c.662G>A (p.Arg221Lys)
c.3089G>A (p.Arg1030Lys)
c.3176G>A (p.Arg1059Lys)
c.3311G>A (p.Arg1104Lys)
c.3212G>A (p.Arg1071Lys)
c.3149G>A (p.Arg1050Lys)
c.3014G>A (p.Arg1005Lys)
c.3092G>A (p.Arg1031Lys)
c.2891G>A (p.Arg964Lys)
c.2990G>A (p.Arg997Lys)
c.3320G>A (p.Arg1107Lys)
c.3125G>A (p.Arg1042Lys)
c.3098G>A (p.Arg1033Lys)
c.3077G>A (p.Arg1026Lys)
c.3050G>A (p.Arg1017Lys)
c.3248G>A (p.Arg1083Lys)
c.839G>A (p.Arg280Lys)
c.2693G>A (p.Arg898Lys)
c.803G>A (p.Arg268Lys)
c.3221G>A (p.Arg1074Lys)
c.3074G>A (p.Arg1025Lys)
c.2783G>A (p.Arg928Lys)
c.2933G>A (p.Arg978Lys)
n.123G>A
c.312G>A
c.3188G>A (p.Arg1063Lys)
c.3308G>A (p.Arg1103Lys)
c.3272G>A (p.Arg1091Lys)
c.3362G>A (p.Arg1121Lys)
c.3326G>A (p.Arg1109Lys)
c.3302G>A (p.Arg1101Lys)
c.3347G>A (p.Arg1116Lys)
c.3287G>A (p.Arg1096Lys)
c.3254G>A (p.Arg1085Lys)
c.3317G>A (p.Arg1106Lys)
c.3173G>A (p.Arg1058Lys)
c.3353G>A (p.Arg1118Lys)
c.3245G>A (p.Arg1082Lys)
c.3209G>A (p.Arg1070Lys)
c.3224G>A (p.Arg1075Lys)
c.3134G>A (p.Arg1045Lys)
c.3062G>A (p.Arg1021Lys)
c.3146G>A (p.Arg1049Lys)
c.2975G>A (p.Arg992Lys)
c.3392G>A (p.Arg1131Lys)
c.3278G>A (p.Arg1093Lys)
c.3260G>A (p.Arg1087Lys)
c.3332G>A (p.Arg1111Lys)
c.2792G>A (p.Arg931Lys)
c.3119G>A (p.Arg1040Lys)
c.3140G>A (p.Arg1047Lys)
4g.113333104G>CCA357936027ANK2c.3416G>C (p.Arg1139Thr)
c.3356G>C (p.Arg1119Thr)
n.1458G>C
n.912G>C
n.120G>C
n.6538G>C
n.4912G>C
n.32G>C
n.891G>C
n.2288G>C
n.1655G>C
n.1001G>C
n.1419G>C
n.1870G>C
c.3275G>C (p.Arg1092Thr)
c.3113G>C (p.Arg1038Thr)
c.662G>C (p.Arg221Thr)
c.3089G>C (p.Arg1030Thr)
c.3176G>C (p.Arg1059Thr)
c.3311G>C (p.Arg1104Thr)
c.3212G>C (p.Arg1071Thr)
c.3149G>C (p.Arg1050Thr)
c.3014G>C (p.Arg1005Thr)
c.3092G>C (p.Arg1031Thr)
c.2891G>C (p.Arg964Thr)
c.2990G>C (p.Arg997Thr)
c.3320G>C (p.Arg1107Thr)
c.3125G>C (p.Arg1042Thr)
c.3098G>C (p.Arg1033Thr)
c.3077G>C (p.Arg1026Thr)
c.3050G>C (p.Arg1017Thr)
c.3248G>C (p.Arg1083Thr)
c.839G>C (p.Arg280Thr)
c.2693G>C (p.Arg898Thr)
c.803G>C (p.Arg268Thr)
c.3221G>C (p.Arg1074Thr)
c.3074G>C (p.Arg1025Thr)
c.2783G>C (p.Arg928Thr)
c.2933G>C (p.Arg978Thr)
n.123G>C
c.312G>C
c.3188G>C (p.Arg1063Thr)
c.3308G>C (p.Arg1103Thr)
c.3272G>C (p.Arg1091Thr)
c.3362G>C (p.Arg1121Thr)
c.3326G>C (p.Arg1109Thr)
c.3302G>C (p.Arg1101Thr)
c.3347G>C (p.Arg1116Thr)
c.3287G>C (p.Arg1096Thr)
c.3254G>C (p.Arg1085Thr)
c.3317G>C (p.Arg1106Thr)
c.3173G>C (p.Arg1058Thr)
c.3353G>C (p.Arg1118Thr)
c.3245G>C (p.Arg1082Thr)
c.3209G>C (p.Arg1070Thr)
c.3224G>C (p.Arg1075Thr)
c.3134G>C (p.Arg1045Thr)
c.3062G>C (p.Arg1021Thr)
c.3146G>C (p.Arg1049Thr)
c.2975G>C (p.Arg992Thr)
c.3392G>C (p.Arg1131Thr)
c.3278G>C (p.Arg1093Thr)
c.3260G>C (p.Arg1087Thr)
c.3332G>C (p.Arg1111Thr)
c.2792G>C (p.Arg931Thr)
c.3119G>C (p.Arg1040Thr)
c.3140G>C (p.Arg1047Thr)
dbSNP
4g.113333104G>TCA357936029ANK2c.3416G>T (p.Arg1139Met)
c.3356G>T (p.Arg1119Met)
n.1458G>T
n.912G>T
n.120G>T
n.6538G>T
n.4912G>T
n.32G>T
n.891G>T
n.2288G>T
n.1655G>T
n.1001G>T
n.1419G>T
n.1870G>T
c.3275G>T (p.Arg1092Met)
c.3113G>T (p.Arg1038Met)
c.662G>T (p.Arg221Met)
c.3089G>T (p.Arg1030Met)
c.3176G>T (p.Arg1059Met)
c.3311G>T (p.Arg1104Met)
c.3212G>T (p.Arg1071Met)
c.3149G>T (p.Arg1050Met)
c.3014G>T (p.Arg1005Met)
c.3092G>T (p.Arg1031Met)
c.2891G>T (p.Arg964Met)
c.2990G>T (p.Arg997Met)
c.3320G>T (p.Arg1107Met)
c.3125G>T (p.Arg1042Met)
c.3098G>T (p.Arg1033Met)
c.3077G>T (p.Arg1026Met)
c.3050G>T (p.Arg1017Met)
c.3248G>T (p.Arg1083Met)
c.839G>T (p.Arg280Met)
c.2693G>T (p.Arg898Met)
c.803G>T (p.Arg268Met)
c.3221G>T (p.Arg1074Met)
c.3074G>T (p.Arg1025Met)
c.2783G>T (p.Arg928Met)
c.2933G>T (p.Arg978Met)
n.123G>T
c.312G>T
c.3188G>T (p.Arg1063Met)
c.3308G>T (p.Arg1103Met)
c.3272G>T (p.Arg1091Met)
c.3362G>T (p.Arg1121Met)
c.3326G>T (p.Arg1109Met)
c.3302G>T (p.Arg1101Met)
c.3347G>T (p.Arg1116Met)
c.3287G>T (p.Arg1096Met)
c.3254G>T (p.Arg1085Met)
c.3317G>T (p.Arg1106Met)
c.3173G>T (p.Arg1058Met)
c.3353G>T (p.Arg1118Met)
c.3245G>T (p.Arg1082Met)
c.3209G>T (p.Arg1070Met)
c.3224G>T (p.Arg1075Met)
c.3134G>T (p.Arg1045Met)
c.3062G>T (p.Arg1021Met)
c.3146G>T (p.Arg1049Met)
c.2975G>T (p.Arg992Met)
c.3392G>T (p.Arg1131Met)
c.3278G>T (p.Arg1093Met)
c.3260G>T (p.Arg1087Met)
c.3332G>T (p.Arg1111Met)
c.2792G>T (p.Arg931Met)
c.3119G>T (p.Arg1040Met)
c.3140G>T (p.Arg1047Met)
dbSNP
4g.113333105G>ACA440842841ANK2c.3417G>A (p.Arg1139=)
c.3357G>A (p.Arg1119=)
n.1459G>A
n.913G>A
n.121G>A
n.6539G>A
n.4913G>A
n.33G>A
n.892G>A
n.2289G>A
n.1656G>A
n.1002G>A
n.1420G>A
n.1871G>A
c.3276G>A (p.Arg1092=)
c.3114G>A (p.Arg1038=)
c.663G>A (p.Arg221=)
c.3090G>A (p.Arg1030=)
c.3177G>A (p.Arg1059=)
c.3312G>A (p.Arg1104=)
c.3213G>A (p.Arg1071=)
c.3150G>A (p.Arg1050=)
c.3015G>A (p.Arg1005=)
c.3093G>A (p.Arg1031=)
c.2892G>A (p.Arg964=)
c.2991G>A (p.Arg997=)
c.3321G>A (p.Arg1107=)
c.3126G>A (p.Arg1042=)
c.3099G>A (p.Arg1033=)
c.3078G>A (p.Arg1026=)
c.3051G>A (p.Arg1017=)
c.3249G>A (p.Arg1083=)
c.840G>A (p.Arg280=)
c.2694G>A (p.Arg898=)
c.804G>A (p.Arg268=)
c.3222G>A (p.Arg1074=)
c.3075G>A (p.Arg1025=)
c.2784G>A (p.Arg928=)
c.2934G>A (p.Arg978=)
n.124G>A
c.313G>A
c.3189G>A (p.Arg1063=)
c.3309G>A (p.Arg1103=)
c.3273G>A (p.Arg1091=)
c.3363G>A (p.Arg1121=)
c.3327G>A (p.Arg1109=)
c.3303G>A (p.Arg1101=)
c.3348G>A (p.Arg1116=)
c.3288G>A (p.Arg1096=)
c.3255G>A (p.Arg1085=)
c.3318G>A (p.Arg1106=)
c.3174G>A (p.Arg1058=)
c.3354G>A (p.Arg1118=)
c.3246G>A (p.Arg1082=)
c.3210G>A (p.Arg1070=)
c.3225G>A (p.Arg1075=)
c.3135G>A (p.Arg1045=)
c.3063G>A (p.Arg1021=)
c.3147G>A (p.Arg1049=)
c.2976G>A (p.Arg992=)
c.3393G>A (p.Arg1131=)
c.3279G>A (p.Arg1093=)
c.3261G>A (p.Arg1087=)
c.3333G>A (p.Arg1111=)
c.2793G>A (p.Arg931=)
c.3120G>A (p.Arg1040=)
c.3141G>A (p.Arg1047=)
4g.113333105G>CCA357936031ANK2c.3417G>C (p.Arg1139Ser)
c.3357G>C (p.Arg1119Ser)
n.1459G>C
n.913G>C
n.121G>C
n.6539G>C
n.4913G>C
n.33G>C
n.892G>C
n.2289G>C
n.1656G>C
n.1002G>C
n.1420G>C
n.1871G>C
c.3276G>C (p.Arg1092Ser)
c.3114G>C (p.Arg1038Ser)
c.663G>C (p.Arg221Ser)
c.3090G>C (p.Arg1030Ser)
c.3177G>C (p.Arg1059Ser)
c.3312G>C (p.Arg1104Ser)
c.3213G>C (p.Arg1071Ser)
c.3150G>C (p.Arg1050Ser)
c.3015G>C (p.Arg1005Ser)
c.3093G>C (p.Arg1031Ser)
c.2892G>C (p.Arg964Ser)
c.2991G>C (p.Arg997Ser)
c.3321G>C (p.Arg1107Ser)
c.3126G>C (p.Arg1042Ser)
c.3099G>C (p.Arg1033Ser)
c.3078G>C (p.Arg1026Ser)
c.3051G>C (p.Arg1017Ser)
c.3249G>C (p.Arg1083Ser)
c.840G>C (p.Arg280Ser)
c.2694G>C (p.Arg898Ser)
c.804G>C (p.Arg268Ser)
c.3222G>C (p.Arg1074Ser)
c.3075G>C (p.Arg1025Ser)
c.2784G>C (p.Arg928Ser)
c.2934G>C (p.Arg978Ser)
n.124G>C
c.313G>C
c.3189G>C (p.Arg1063Ser)
c.3309G>C (p.Arg1103Ser)
c.3273G>C (p.Arg1091Ser)
c.3363G>C (p.Arg1121Ser)
c.3327G>C (p.Arg1109Ser)
c.3303G>C (p.Arg1101Ser)
c.3348G>C (p.Arg1116Ser)
c.3288G>C (p.Arg1096Ser)
c.3255G>C (p.Arg1085Ser)
c.3318G>C (p.Arg1106Ser)
c.3174G>C (p.Arg1058Ser)
c.3354G>C (p.Arg1118Ser)
c.3246G>C (p.Arg1082Ser)
c.3210G>C (p.Arg1070Ser)
c.3225G>C (p.Arg1075Ser)
c.3135G>C (p.Arg1045Ser)
c.3063G>C (p.Arg1021Ser)
c.3147G>C (p.Arg1049Ser)
c.2976G>C (p.Arg992Ser)
c.3393G>C (p.Arg1131Ser)
c.3279G>C (p.Arg1093Ser)
c.3261G>C (p.Arg1087Ser)
c.3333G>C (p.Arg1111Ser)
c.2793G>C (p.Arg931Ser)
c.3120G>C (p.Arg1040Ser)
c.3141G>C (p.Arg1047Ser)
4g.113333105G>TCA357936033ANK2c.3417G>T (p.Arg1139Ser)
c.3357G>T (p.Arg1119Ser)
n.1459G>T
n.913G>T
n.121G>T
n.6539G>T
n.4913G>T
n.33G>T
n.892G>T
n.2289G>T
n.1656G>T
n.1002G>T
n.1420G>T
n.1871G>T
c.3276G>T (p.Arg1092Ser)
c.3114G>T (p.Arg1038Ser)
c.663G>T (p.Arg221Ser)
c.3090G>T (p.Arg1030Ser)
c.3177G>T (p.Arg1059Ser)
c.3312G>T (p.Arg1104Ser)
c.3213G>T (p.Arg1071Ser)
c.3150G>T (p.Arg1050Ser)
c.3015G>T (p.Arg1005Ser)
c.3093G>T (p.Arg1031Ser)
c.2892G>T (p.Arg964Ser)
c.2991G>T (p.Arg997Ser)
c.3321G>T (p.Arg1107Ser)
c.3126G>T (p.Arg1042Ser)
c.3099G>T (p.Arg1033Ser)
c.3078G>T (p.Arg1026Ser)
c.3051G>T (p.Arg1017Ser)
c.3249G>T (p.Arg1083Ser)
c.840G>T (p.Arg280Ser)
c.2694G>T (p.Arg898Ser)
c.804G>T (p.Arg268Ser)
c.3222G>T (p.Arg1074Ser)
c.3075G>T (p.Arg1025Ser)
c.2784G>T (p.Arg928Ser)
c.2934G>T (p.Arg978Ser)
n.124G>T
c.313G>T
c.3189G>T (p.Arg1063Ser)
c.3309G>T (p.Arg1103Ser)
c.3273G>T (p.Arg1091Ser)
c.3363G>T (p.Arg1121Ser)
c.3327G>T (p.Arg1109Ser)
c.3303G>T (p.Arg1101Ser)
c.3348G>T (p.Arg1116Ser)
c.3288G>T (p.Arg1096Ser)
c.3255G>T (p.Arg1085Ser)
c.3318G>T (p.Arg1106Ser)
c.3174G>T (p.Arg1058Ser)
c.3354G>T (p.Arg1118Ser)
c.3246G>T (p.Arg1082Ser)
c.3210G>T (p.Arg1070Ser)
c.3225G>T (p.Arg1075Ser)
c.3135G>T (p.Arg1045Ser)
c.3063G>T (p.Arg1021Ser)
c.3147G>T (p.Arg1049Ser)
c.2976G>T (p.Arg992Ser)
c.3393G>T (p.Arg1131Ser)
c.3279G>T (p.Arg1093Ser)
c.3261G>T (p.Arg1087Ser)
c.3333G>T (p.Arg1111Ser)
c.2793G>T (p.Arg931Ser)
c.3120G>T (p.Arg1040Ser)
c.3141G>T (p.Arg1047Ser)
4g.113333106G>ACA103824568ANK2c.3418G>A (p.Glu1140Lys)
c.3358G>A (p.Glu1120Lys)
n.1460G>A
n.914G>A
n.122G>A
n.6540G>A
n.4914G>A
n.34G>A
n.893G>A
n.2290G>A
n.1657G>A
n.1003G>A
n.1421G>A
n.1872G>A
c.3277G>A (p.Glu1093Lys)
c.3115G>A (p.Glu1039Lys)
c.664G>A (p.Glu222Lys)
c.3091G>A (p.Glu1031Lys)
c.3178G>A (p.Glu1060Lys)
c.3313G>A (p.Glu1105Lys)
c.3214G>A (p.Glu1072Lys)
c.3151G>A (p.Glu1051Lys)
c.3016G>A (p.Glu1006Lys)
c.3094G>A (p.Glu1032Lys)
c.2893G>A (p.Glu965Lys)
c.2992G>A (p.Glu998Lys)
c.3322G>A (p.Glu1108Lys)
c.3127G>A (p.Glu1043Lys)
c.3100G>A (p.Glu1034Lys)
c.3079G>A (p.Glu1027Lys)
c.3052G>A (p.Glu1018Lys)
c.3250G>A (p.Glu1084Lys)
c.841G>A (p.Glu281Lys)
c.2695G>A (p.Glu899Lys)
c.805G>A (p.Glu269Lys)
c.3223G>A (p.Glu1075Lys)
c.3076G>A (p.Glu1026Lys)
c.2785G>A (p.Glu929Lys)
c.2935G>A (p.Glu979Lys)
n.125G>A
c.314G>A
c.3190G>A (p.Glu1064Lys)
c.3310G>A (p.Glu1104Lys)
c.3274G>A (p.Glu1092Lys)
c.3364G>A (p.Glu1122Lys)
c.3328G>A (p.Glu1110Lys)
c.3304G>A (p.Glu1102Lys)
c.3349G>A (p.Glu1117Lys)
c.3289G>A (p.Glu1097Lys)
c.3256G>A (p.Glu1086Lys)
c.3319G>A (p.Glu1107Lys)
c.3175G>A (p.Glu1059Lys)
c.3355G>A (p.Glu1119Lys)
c.3247G>A (p.Glu1083Lys)
c.3211G>A (p.Glu1071Lys)
c.3226G>A (p.Glu1076Lys)
c.3136G>A (p.Glu1046Lys)
c.3064G>A (p.Glu1022Lys)
c.3148G>A (p.Glu1050Lys)
c.2977G>A (p.Glu993Lys)
c.3394G>A (p.Glu1132Lys)
c.3280G>A (p.Glu1094Lys)
c.3262G>A (p.Glu1088Lys)
c.3334G>A (p.Glu1112Lys)
c.2794G>A (p.Glu932Lys)
c.3121G>A (p.Glu1041Lys)
c.3142G>A (p.Glu1048Lys)
dbSNP
4g.113333106G>CCA357936036ANK2c.3418G>C (p.Glu1140Gln)
c.3358G>C (p.Glu1120Gln)
n.1460G>C
n.914G>C
n.122G>C
n.6540G>C
n.4914G>C
n.34G>C
n.893G>C
n.2290G>C
n.1657G>C
n.1003G>C
n.1421G>C
n.1872G>C
c.3277G>C (p.Glu1093Gln)
c.3115G>C (p.Glu1039Gln)
c.664G>C (p.Glu222Gln)
c.3091G>C (p.Glu1031Gln)
c.3178G>C (p.Glu1060Gln)
c.3313G>C (p.Glu1105Gln)
c.3214G>C (p.Glu1072Gln)
c.3151G>C (p.Glu1051Gln)
c.3016G>C (p.Glu1006Gln)
c.3094G>C (p.Glu1032Gln)
c.2893G>C (p.Glu965Gln)
c.2992G>C (p.Glu998Gln)
c.3322G>C (p.Glu1108Gln)
c.3127G>C (p.Glu1043Gln)
c.3100G>C (p.Glu1034Gln)
c.3079G>C (p.Glu1027Gln)
c.3052G>C (p.Glu1018Gln)
c.3250G>C (p.Glu1084Gln)
c.841G>C (p.Glu281Gln)
c.2695G>C (p.Glu899Gln)
c.805G>C (p.Glu269Gln)
c.3223G>C (p.Glu1075Gln)
c.3076G>C (p.Glu1026Gln)
c.2785G>C (p.Glu929Gln)
c.2935G>C (p.Glu979Gln)
n.125G>C
c.314G>C
c.3190G>C (p.Glu1064Gln)
c.3310G>C (p.Glu1104Gln)
c.3274G>C (p.Glu1092Gln)
c.3364G>C (p.Glu1122Gln)
c.3328G>C (p.Glu1110Gln)
c.3304G>C (p.Glu1102Gln)
c.3349G>C (p.Glu1117Gln)
c.3289G>C (p.Glu1097Gln)
c.3256G>C (p.Glu1086Gln)
c.3319G>C (p.Glu1107Gln)
c.3175G>C (p.Glu1059Gln)
c.3355G>C (p.Glu1119Gln)
c.3247G>C (p.Glu1083Gln)
c.3211G>C (p.Glu1071Gln)
c.3226G>C (p.Glu1076Gln)
c.3136G>C (p.Glu1046Gln)
c.3064G>C (p.Glu1022Gln)
c.3148G>C (p.Glu1050Gln)
c.2977G>C (p.Glu993Gln)
c.3394G>C (p.Glu1132Gln)
c.3280G>C (p.Glu1094Gln)
c.3262G>C (p.Glu1088Gln)
c.3334G>C (p.Glu1112Gln)
c.2794G>C (p.Glu932Gln)
c.3121G>C (p.Glu1041Gln)
c.3142G>C (p.Glu1048Gln)
dbSNP gnomAD v3 gnomAD v4
4g.113333106G>TCA357936037ANK2c.3418G>T (p.Glu1140Ter)
c.3358G>T (p.Glu1120Ter)
n.1460G>T
n.914G>T
n.122G>T
n.6540G>T
n.4914G>T
n.34G>T
n.893G>T
n.2290G>T
n.1657G>T
n.1003G>T
n.1421G>T
n.1872G>T
c.3277G>T (p.Glu1093Ter)
c.3115G>T (p.Glu1039Ter)
c.664G>T (p.Glu222Ter)
c.3091G>T (p.Glu1031Ter)
c.3178G>T (p.Glu1060Ter)
c.3313G>T (p.Glu1105Ter)
c.3214G>T (p.Glu1072Ter)
c.3151G>T (p.Glu1051Ter)
c.3016G>T (p.Glu1006Ter)
c.3094G>T (p.Glu1032Ter)
c.2893G>T (p.Glu965Ter)
c.2992G>T (p.Glu998Ter)
c.3322G>T (p.Glu1108Ter)
c.3127G>T (p.Glu1043Ter)
c.3100G>T (p.Glu1034Ter)
c.3079G>T (p.Glu1027Ter)
c.3052G>T (p.Glu1018Ter)
c.3250G>T (p.Glu1084Ter)
c.841G>T (p.Glu281Ter)
c.2695G>T (p.Glu899Ter)
c.805G>T (p.Glu269Ter)
c.3223G>T (p.Glu1075Ter)
c.3076G>T (p.Glu1026Ter)
c.2785G>T (p.Glu929Ter)
c.2935G>T (p.Glu979Ter)
n.125G>T
c.314G>T
c.3190G>T (p.Glu1064Ter)
c.3310G>T (p.Glu1104Ter)
c.3274G>T (p.Glu1092Ter)
c.3364G>T (p.Glu1122Ter)
c.3328G>T (p.Glu1110Ter)
c.3304G>T (p.Glu1102Ter)
c.3349G>T (p.Glu1117Ter)
c.3289G>T (p.Glu1097Ter)
c.3256G>T (p.Glu1086Ter)
c.3319G>T (p.Glu1107Ter)
c.3175G>T (p.Glu1059Ter)
c.3355G>T (p.Glu1119Ter)
c.3247G>T (p.Glu1083Ter)
c.3211G>T (p.Glu1071Ter)
c.3226G>T (p.Glu1076Ter)
c.3136G>T (p.Glu1046Ter)
c.3064G>T (p.Glu1022Ter)
c.3148G>T (p.Glu1050Ter)
c.2977G>T (p.Glu993Ter)
c.3394G>T (p.Glu1132Ter)
c.3280G>T (p.Glu1094Ter)
c.3262G>T (p.Glu1088Ter)
c.3334G>T (p.Glu1112Ter)
c.2794G>T (p.Glu932Ter)
c.3121G>T (p.Glu1041Ter)
c.3142G>T (p.Glu1048Ter)
dbSNP
4g.113333107A>CCA357936039ANK2c.3419A>C (p.Glu1140Ala)
c.3359A>C (p.Glu1120Ala)
n.1461A>C
n.915A>C
n.123A>C
n.6541A>C
n.4915A>C
n.35A>C
n.894A>C
n.2291A>C
n.1658A>C
n.1004A>C
n.1422A>C
n.1873A>C
c.3278A>C (p.Glu1093Ala)
c.3116A>C (p.Glu1039Ala)
c.665A>C (p.Glu222Ala)
c.3092A>C (p.Glu1031Ala)
c.3179A>C (p.Glu1060Ala)
c.3314A>C (p.Glu1105Ala)
c.3215A>C (p.Glu1072Ala)
c.3152A>C (p.Glu1051Ala)
c.3017A>C (p.Glu1006Ala)
c.3095A>C (p.Glu1032Ala)
c.2894A>C (p.Glu965Ala)
c.2993A>C (p.Glu998Ala)
c.3323A>C (p.Glu1108Ala)
c.3128A>C (p.Glu1043Ala)
c.3101A>C (p.Glu1034Ala)
c.3080A>C (p.Glu1027Ala)
c.3053A>C (p.Glu1018Ala)
c.3251A>C (p.Glu1084Ala)
c.842A>C (p.Glu281Ala)
c.2696A>C (p.Glu899Ala)
c.806A>C (p.Glu269Ala)
c.3224A>C (p.Glu1075Ala)
c.3077A>C (p.Glu1026Ala)
c.2786A>C (p.Glu929Ala)
c.2936A>C (p.Glu979Ala)
n.126A>C
c.315A>C
c.3191A>C (p.Glu1064Ala)
c.3311A>C (p.Glu1104Ala)
c.3275A>C (p.Glu1092Ala)
c.3365A>C (p.Glu1122Ala)
c.3329A>C (p.Glu1110Ala)
c.3305A>C (p.Glu1102Ala)
c.3350A>C (p.Glu1117Ala)
c.3290A>C (p.Glu1097Ala)
c.3257A>C (p.Glu1086Ala)
c.3320A>C (p.Glu1107Ala)
c.3176A>C (p.Glu1059Ala)
c.3356A>C (p.Glu1119Ala)
c.3248A>C (p.Glu1083Ala)
c.3212A>C (p.Glu1071Ala)
c.3227A>C (p.Glu1076Ala)
c.3137A>C (p.Glu1046Ala)
c.3065A>C (p.Glu1022Ala)
c.3149A>C (p.Glu1050Ala)
c.2978A>C (p.Glu993Ala)
c.3395A>C (p.Glu1132Ala)
c.3281A>C (p.Glu1094Ala)
c.3263A>C (p.Glu1088Ala)
c.3335A>C (p.Glu1112Ala)
c.2795A>C (p.Glu932Ala)
c.3122A>C (p.Glu1041Ala)
c.3143A>C (p.Glu1048Ala)
4g.113333107A>GCA357936041ANK2c.3419A>G (p.Glu1140Gly)
c.3359A>G (p.Glu1120Gly)
n.1461A>G
n.915A>G
n.123A>G
n.6541A>G
n.4915A>G
n.35A>G
n.894A>G
n.2291A>G
n.1658A>G
n.1004A>G
n.1422A>G
n.1873A>G
c.3278A>G (p.Glu1093Gly)
c.3116A>G (p.Glu1039Gly)
c.665A>G (p.Glu222Gly)
c.3092A>G (p.Glu1031Gly)
c.3179A>G (p.Glu1060Gly)
c.3314A>G (p.Glu1105Gly)
c.3215A>G (p.Glu1072Gly)
c.3152A>G (p.Glu1051Gly)
c.3017A>G (p.Glu1006Gly)
c.3095A>G (p.Glu1032Gly)
c.2894A>G (p.Glu965Gly)
c.2993A>G (p.Glu998Gly)
c.3323A>G (p.Glu1108Gly)
c.3128A>G (p.Glu1043Gly)
c.3101A>G (p.Glu1034Gly)
c.3080A>G (p.Glu1027Gly)
c.3053A>G (p.Glu1018Gly)
c.3251A>G (p.Glu1084Gly)
c.842A>G (p.Glu281Gly)
c.2696A>G (p.Glu899Gly)
c.806A>G (p.Glu269Gly)
c.3224A>G (p.Glu1075Gly)
c.3077A>G (p.Glu1026Gly)
c.2786A>G (p.Glu929Gly)
c.2936A>G (p.Glu979Gly)
n.126A>G
c.315A>G
c.3191A>G (p.Glu1064Gly)
c.3311A>G (p.Glu1104Gly)
c.3275A>G (p.Glu1092Gly)
c.3365A>G (p.Glu1122Gly)
c.3329A>G (p.Glu1110Gly)
c.3305A>G (p.Glu1102Gly)
c.3350A>G (p.Glu1117Gly)
c.3290A>G (p.Glu1097Gly)
c.3257A>G (p.Glu1086Gly)
c.3320A>G (p.Glu1107Gly)
c.3176A>G (p.Glu1059Gly)
c.3356A>G (p.Glu1119Gly)
c.3248A>G (p.Glu1083Gly)
c.3212A>G (p.Glu1071Gly)
c.3227A>G (p.Glu1076Gly)
c.3137A>G (p.Glu1046Gly)
c.3065A>G (p.Glu1022Gly)
c.3149A>G (p.Glu1050Gly)
c.2978A>G (p.Glu993Gly)
c.3395A>G (p.Glu1132Gly)
c.3281A>G (p.Glu1094Gly)
c.3263A>G (p.Glu1088Gly)
c.3335A>G (p.Glu1112Gly)
c.2795A>G (p.Glu932Gly)
c.3122A>G (p.Glu1041Gly)
c.3143A>G (p.Glu1048Gly)
4g.113333107A>TCA357936043ANK2c.3419A>T (p.Glu1140Val)
c.3359A>T (p.Glu1120Val)
n.1461A>T
n.915A>T
n.123A>T
n.6541A>T
n.4915A>T
n.35A>T
n.894A>T
n.2291A>T
n.1658A>T
n.1004A>T
n.1422A>T
n.1873A>T
c.3278A>T (p.Glu1093Val)
c.3116A>T (p.Glu1039Val)
c.665A>T (p.Glu222Val)
c.3092A>T (p.Glu1031Val)
c.3179A>T (p.Glu1060Val)
c.3314A>T (p.Glu1105Val)
c.3215A>T (p.Glu1072Val)
c.3152A>T (p.Glu1051Val)
c.3017A>T (p.Glu1006Val)
c.3095A>T (p.Glu1032Val)
c.2894A>T (p.Glu965Val)
c.2993A>T (p.Glu998Val)
c.3323A>T (p.Glu1108Val)
c.3128A>T (p.Glu1043Val)
c.3101A>T (p.Glu1034Val)
c.3080A>T (p.Glu1027Val)
c.3053A>T (p.Glu1018Val)
c.3251A>T (p.Glu1084Val)
c.842A>T (p.Glu281Val)
c.2696A>T (p.Glu899Val)
c.806A>T (p.Glu269Val)
c.3224A>T (p.Glu1075Val)
c.3077A>T (p.Glu1026Val)
c.2786A>T (p.Glu929Val)
c.2936A>T (p.Glu979Val)
n.126A>T
c.315A>T
c.3191A>T (p.Glu1064Val)
c.3311A>T (p.Glu1104Val)
c.3275A>T (p.Glu1092Val)
c.3365A>T (p.Glu1122Val)
c.3329A>T (p.Glu1110Val)
c.3305A>T (p.Glu1102Val)
c.3350A>T (p.Glu1117Val)
c.3290A>T (p.Glu1097Val)
c.3257A>T (p.Glu1086Val)
c.3320A>T (p.Glu1107Val)
c.3176A>T (p.Glu1059Val)
c.3356A>T (p.Glu1119Val)
c.3248A>T (p.Glu1083Val)
c.3212A>T (p.Glu1071Val)
c.3227A>T (p.Glu1076Val)
c.3137A>T (p.Glu1046Val)
c.3065A>T (p.Glu1022Val)
c.3149A>T (p.Glu1050Val)
c.2978A>T (p.Glu993Val)
c.3395A>T (p.Glu1132Val)
c.3281A>T (p.Glu1094Val)
c.3263A>T (p.Glu1088Val)
c.3335A>T (p.Glu1112Val)
c.2795A>T (p.Glu932Val)
c.3122A>T (p.Glu1041Val)
c.3143A>T (p.Glu1048Val)
ClinVar
4g.113333108A>CCA357936045ANK2c.3420A>C (p.Glu1140Asp)
c.3360A>C (p.Glu1120Asp)
n.1462A>C
n.916A>C
n.124A>C
n.6542A>C
n.4916A>C
n.36A>C
n.895A>C
n.2292A>C
n.1659A>C
n.1005A>C
n.1423A>C
n.1874A>C
c.3279A>C (p.Glu1093Asp)
c.3117A>C (p.Glu1039Asp)
c.666A>C (p.Glu222Asp)
c.3093A>C (p.Glu1031Asp)
c.3180A>C (p.Glu1060Asp)
c.3315A>C (p.Glu1105Asp)
c.3216A>C (p.Glu1072Asp)
c.3153A>C (p.Glu1051Asp)
c.3018A>C (p.Glu1006Asp)
c.3096A>C (p.Glu1032Asp)
c.2895A>C (p.Glu965Asp)
c.2994A>C (p.Glu998Asp)
c.3324A>C (p.Glu1108Asp)
c.3129A>C (p.Glu1043Asp)
c.3102A>C (p.Glu1034Asp)
c.3081A>C (p.Glu1027Asp)
c.3054A>C (p.Glu1018Asp)
c.3252A>C (p.Glu1084Asp)
c.843A>C (p.Glu281Asp)
c.2697A>C (p.Glu899Asp)
c.807A>C (p.Glu269Asp)
c.3225A>C (p.Glu1075Asp)
c.3078A>C (p.Glu1026Asp)
c.2787A>C (p.Glu929Asp)
c.2937A>C (p.Glu979Asp)
n.127A>C
c.316A>C
c.3192A>C (p.Glu1064Asp)
c.3312A>C (p.Glu1104Asp)
c.3276A>C (p.Glu1092Asp)
c.3366A>C (p.Glu1122Asp)
c.3330A>C (p.Glu1110Asp)
c.3306A>C (p.Glu1102Asp)
c.3351A>C (p.Glu1117Asp)
c.3291A>C (p.Glu1097Asp)
c.3258A>C (p.Glu1086Asp)
c.3321A>C (p.Glu1107Asp)
c.3177A>C (p.Glu1059Asp)
c.3357A>C (p.Glu1119Asp)
c.3249A>C (p.Glu1083Asp)
c.3213A>C (p.Glu1071Asp)
c.3228A>C (p.Glu1076Asp)
c.3138A>C (p.Glu1046Asp)
c.3066A>C (p.Glu1022Asp)
c.3150A>C (p.Glu1050Asp)
c.2979A>C (p.Glu993Asp)
c.3396A>C (p.Glu1132Asp)
c.3282A>C (p.Glu1094Asp)
c.3264A>C (p.Glu1088Asp)
c.3336A>C (p.Glu1112Asp)
c.2796A>C (p.Glu932Asp)
c.3123A>C (p.Glu1041Asp)
c.3144A>C (p.Glu1048Asp)
4g.113333108A>GCA440842842ANK2c.3420A>G (p.Glu1140=)
c.3360A>G (p.Glu1120=)
n.1462A>G
n.916A>G
n.124A>G
n.6542A>G
n.4916A>G
n.36A>G
n.895A>G
n.2292A>G
n.1659A>G
n.1005A>G
n.1423A>G
n.1874A>G
c.3279A>G (p.Glu1093=)
c.3117A>G (p.Glu1039=)
c.666A>G (p.Glu222=)
c.3093A>G (p.Glu1031=)
c.3180A>G (p.Glu1060=)
c.3315A>G (p.Glu1105=)
c.3216A>G (p.Glu1072=)
c.3153A>G (p.Glu1051=)
c.3018A>G (p.Glu1006=)
c.3096A>G (p.Glu1032=)
c.2895A>G (p.Glu965=)
c.2994A>G (p.Glu998=)
c.3324A>G (p.Glu1108=)
c.3129A>G (p.Glu1043=)
c.3102A>G (p.Glu1034=)
c.3081A>G (p.Glu1027=)
c.3054A>G (p.Glu1018=)
c.3252A>G (p.Glu1084=)
c.843A>G (p.Glu281=)
c.2697A>G (p.Glu899=)
c.807A>G (p.Glu269=)
c.3225A>G (p.Glu1075=)
c.3078A>G (p.Glu1026=)
c.2787A>G (p.Glu929=)
c.2937A>G (p.Glu979=)
n.127A>G
c.316A>G
c.3192A>G (p.Glu1064=)
c.3312A>G (p.Glu1104=)
c.3276A>G (p.Glu1092=)
c.3366A>G (p.Glu1122=)
c.3330A>G (p.Glu1110=)
c.3306A>G (p.Glu1102=)
c.3351A>G (p.Glu1117=)
c.3291A>G (p.Glu1097=)
c.3258A>G (p.Glu1086=)
c.3321A>G (p.Glu1107=)
c.3177A>G (p.Glu1059=)
c.3357A>G (p.Glu1119=)
c.3249A>G (p.Glu1083=)
c.3213A>G (p.Glu1071=)
c.3228A>G (p.Glu1076=)
c.3138A>G (p.Glu1046=)
c.3066A>G (p.Glu1022=)
c.3150A>G (p.Glu1050=)
c.2979A>G (p.Glu993=)
c.3396A>G (p.Glu1132=)
c.3282A>G (p.Glu1094=)
c.3264A>G (p.Glu1088=)
c.3336A>G (p.Glu1112=)
c.2796A>G (p.Glu932=)
c.3123A>G (p.Glu1041=)
c.3144A>G (p.Glu1048=)
4g.113333108A>TCA357936047ANK2c.3420A>T (p.Glu1140Asp)
c.3360A>T (p.Glu1120Asp)
n.1462A>T
n.916A>T
n.124A>T
n.6542A>T
n.4916A>T
n.36A>T
n.895A>T
n.2292A>T
n.1659A>T
n.1005A>T
n.1423A>T
n.1874A>T
c.3279A>T (p.Glu1093Asp)
c.3117A>T (p.Glu1039Asp)
c.666A>T (p.Glu222Asp)
c.3093A>T (p.Glu1031Asp)
c.3180A>T (p.Glu1060Asp)
c.3315A>T (p.Glu1105Asp)
c.3216A>T (p.Glu1072Asp)
c.3153A>T (p.Glu1051Asp)
c.3018A>T (p.Glu1006Asp)
c.3096A>T (p.Glu1032Asp)
c.2895A>T (p.Glu965Asp)
c.2994A>T (p.Glu998Asp)
c.3324A>T (p.Glu1108Asp)
c.3129A>T (p.Glu1043Asp)
c.3102A>T (p.Glu1034Asp)
c.3081A>T (p.Glu1027Asp)
c.3054A>T (p.Glu1018Asp)
c.3252A>T (p.Glu1084Asp)
c.843A>T (p.Glu281Asp)
c.2697A>T (p.Glu899Asp)
c.807A>T (p.Glu269Asp)
c.3225A>T (p.Glu1075Asp)
c.3078A>T (p.Glu1026Asp)
c.2787A>T (p.Glu929Asp)
c.2937A>T (p.Glu979Asp)
n.127A>T
c.316A>T
c.3192A>T (p.Glu1064Asp)
c.3312A>T (p.Glu1104Asp)
c.3276A>T (p.Glu1092Asp)
c.3366A>T (p.Glu1122Asp)
c.3330A>T (p.Glu1110Asp)
c.3306A>T (p.Glu1102Asp)
c.3351A>T (p.Glu1117Asp)
c.3291A>T (p.Glu1097Asp)
c.3258A>T (p.Glu1086Asp)
c.3321A>T (p.Glu1107Asp)
c.3177A>T (p.Glu1059Asp)
c.3357A>T (p.Glu1119Asp)
c.3249A>T (p.Glu1083Asp)
c.3213A>T (p.Glu1071Asp)
c.3228A>T (p.Glu1076Asp)
c.3138A>T (p.Glu1046Asp)
c.3066A>T (p.Glu1022Asp)
c.3150A>T (p.Glu1050Asp)
c.2979A>T (p.Glu993Asp)
c.3396A>T (p.Glu1132Asp)
c.3282A>T (p.Glu1094Asp)
c.3264A>T (p.Glu1088Asp)
c.3336A>T (p.Glu1112Asp)
c.2796A>T (p.Glu932Asp)
c.3123A>T (p.Glu1041Asp)
c.3144A>T (p.Glu1048Asp)
dbSNP
4g.113333109C>ACA3050816ANK2c.3421C>A (p.Leu1141Met)
c.3361C>A (p.Leu1121Met)
n.1463C>A
n.917C>A
n.125C>A
n.6543C>A
n.4917C>A
n.37C>A
n.896C>A
n.2293C>A
n.1660C>A
n.1006C>A
n.1424C>A
n.1875C>A
c.3280C>A (p.Leu1094Met)
c.3118C>A (p.Leu1040Met)
c.667C>A (p.Leu223Met)
c.3094C>A (p.Leu1032Met)
c.3181C>A (p.Leu1061Met)
c.3316C>A (p.Leu1106Met)
c.3217C>A (p.Leu1073Met)
c.3154C>A (p.Leu1052Met)
c.3019C>A (p.Leu1007Met)
c.3097C>A (p.Leu1033Met)
c.2896C>A (p.Leu966Met)
c.2995C>A (p.Leu999Met)
c.3325C>A (p.Leu1109Met)
c.3130C>A (p.Leu1044Met)
c.3103C>A (p.Leu1035Met)
c.3082C>A (p.Leu1028Met)
c.3055C>A (p.Leu1019Met)
c.3253C>A (p.Leu1085Met)
c.844C>A (p.Leu282Met)
c.2698C>A (p.Leu900Met)
c.808C>A (p.Leu270Met)
c.3226C>A (p.Leu1076Met)
c.3079C>A (p.Leu1027Met)
c.2788C>A (p.Leu930Met)
c.2938C>A (p.Leu980Met)
n.128C>A
c.317C>A
c.3193C>A (p.Leu1065Met)
c.3313C>A (p.Leu1105Met)
c.3277C>A (p.Leu1093Met)
c.3367C>A (p.Leu1123Met)
c.3331C>A (p.Leu1111Met)
c.3307C>A (p.Leu1103Met)
c.3352C>A (p.Leu1118Met)
c.3292C>A (p.Leu1098Met)
c.3259C>A (p.Leu1087Met)
c.3322C>A (p.Leu1108Met)
c.3178C>A (p.Leu1060Met)
c.3358C>A (p.Leu1120Met)
c.3250C>A (p.Leu1084Met)
c.3214C>A (p.Leu1072Met)
c.3229C>A (p.Leu1077Met)
c.3139C>A (p.Leu1047Met)
c.3067C>A (p.Leu1023Met)
c.3151C>A (p.Leu1051Met)
c.2980C>A (p.Leu994Met)
c.3397C>A (p.Leu1133Met)
c.3283C>A (p.Leu1095Met)
c.3265C>A (p.Leu1089Met)
c.3337C>A (p.Leu1113Met)
c.2797C>A (p.Leu933Met)
c.3124C>A (p.Leu1042Met)
c.3145C>A (p.Leu1049Met)
dbSNP ExAC gnomAD v2 gnomAD v4
4g.113333109C>GCA357936049ANK2c.3421C>G (p.Leu1141Val)
c.3361C>G (p.Leu1121Val)
n.1463C>G
n.917C>G
n.125C>G
n.6543C>G
n.4917C>G
n.37C>G
n.896C>G
n.2293C>G
n.1660C>G
n.1006C>G
n.1424C>G
n.1875C>G
c.3280C>G (p.Leu1094Val)
c.3118C>G (p.Leu1040Val)
c.667C>G (p.Leu223Val)
c.3094C>G (p.Leu1032Val)
c.3181C>G (p.Leu1061Val)
c.3316C>G (p.Leu1106Val)
c.3217C>G (p.Leu1073Val)
c.3154C>G (p.Leu1052Val)
c.3019C>G (p.Leu1007Val)
c.3097C>G (p.Leu1033Val)
c.2896C>G (p.Leu966Val)
c.2995C>G (p.Leu999Val)
c.3325C>G (p.Leu1109Val)
c.3130C>G (p.Leu1044Val)
c.3103C>G (p.Leu1035Val)
c.3082C>G (p.Leu1028Val)
c.3055C>G (p.Leu1019Val)
c.3253C>G (p.Leu1085Val)
c.844C>G (p.Leu282Val)
c.2698C>G (p.Leu900Val)
c.808C>G (p.Leu270Val)
c.3226C>G (p.Leu1076Val)
c.3079C>G (p.Leu1027Val)
c.2788C>G (p.Leu930Val)
c.2938C>G (p.Leu980Val)
n.128C>G
c.317C>G
c.3193C>G (p.Leu1065Val)
c.3313C>G (p.Leu1105Val)
c.3277C>G (p.Leu1093Val)
c.3367C>G (p.Leu1123Val)
c.3331C>G (p.Leu1111Val)
c.3307C>G (p.Leu1103Val)
c.3352C>G (p.Leu1118Val)
c.3292C>G (p.Leu1098Val)
c.3259C>G (p.Leu1087Val)
c.3322C>G (p.Leu1108Val)
c.3178C>G (p.Leu1060Val)
c.3358C>G (p.Leu1120Val)
c.3250C>G (p.Leu1084Val)
c.3214C>G (p.Leu1072Val)
c.3229C>G (p.Leu1077Val)
c.3139C>G (p.Leu1047Val)
c.3067C>G (p.Leu1023Val)
c.3151C>G (p.Leu1051Val)
c.2980C>G (p.Leu994Val)
c.3397C>G (p.Leu1133Val)
c.3283C>G (p.Leu1095Val)
c.3265C>G (p.Leu1089Val)
c.3337C>G (p.Leu1113Val)
c.2797C>G (p.Leu933Val)
c.3124C>G (p.Leu1042Val)
c.3145C>G (p.Leu1049Val)
dbSNP
4g.113333109C>TCA440842843ANK2c.3421C>T (p.Leu1141=)
c.3361C>T (p.Leu1121=)
n.1463C>T
n.917C>T
n.125C>T
n.6543C>T
n.4917C>T
n.37C>T
n.896C>T
n.2293C>T
n.1660C>T
n.1006C>T
n.1424C>T
n.1875C>T
c.3280C>T (p.Leu1094=)
c.3118C>T (p.Leu1040=)
c.667C>T (p.Leu223=)
c.3094C>T (p.Leu1032=)
c.3181C>T (p.Leu1061=)
c.3316C>T (p.Leu1106=)
c.3217C>T (p.Leu1073=)
c.3154C>T (p.Leu1052=)
c.3019C>T (p.Leu1007=)
c.3097C>T (p.Leu1033=)
c.2896C>T (p.Leu966=)
c.2995C>T (p.Leu999=)
c.3325C>T (p.Leu1109=)
c.3130C>T (p.Leu1044=)
c.3103C>T (p.Leu1035=)
c.3082C>T (p.Leu1028=)
c.3055C>T (p.Leu1019=)
c.3253C>T (p.Leu1085=)
c.844C>T (p.Leu282=)
c.2698C>T (p.Leu900=)
c.808C>T (p.Leu270=)
c.3226C>T (p.Leu1076=)
c.3079C>T (p.Leu1027=)
c.2788C>T (p.Leu930=)
c.2938C>T (p.Leu980=)
n.128C>T
c.317C>T
c.3193C>T (p.Leu1065=)
c.3313C>T (p.Leu1105=)
c.3277C>T (p.Leu1093=)
c.3367C>T (p.Leu1123=)
c.3331C>T (p.Leu1111=)
c.3307C>T (p.Leu1103=)
c.3352C>T (p.Leu1118=)
c.3292C>T (p.Leu1098=)
c.3259C>T (p.Leu1087=)
c.3322C>T (p.Leu1108=)
c.3178C>T (p.Leu1060=)
c.3358C>T (p.Leu1120=)
c.3250C>T (p.Leu1084=)
c.3214C>T (p.Leu1072=)
c.3229C>T (p.Leu1077=)
c.3139C>T (p.Leu1047=)
c.3067C>T (p.Leu1023=)
c.3151C>T (p.Leu1051=)
c.2980C>T (p.Leu994=)
c.3397C>T (p.Leu1133=)
c.3283C>T (p.Leu1095=)
c.3265C>T (p.Leu1089=)
c.3337C>T (p.Leu1113=)
c.2797C>T (p.Leu933=)
c.3124C>T (p.Leu1042=)
c.3145C>T (p.Leu1049=)
dbSNP
4g.113333110T>ACA357936052ANK2c.3422T>A (p.Leu1141Gln)
c.3362T>A (p.Leu1121Gln)
n.1464T>A
n.918T>A
n.126T>A
n.6544T>A
n.4918T>A
n.38T>A
n.897T>A
n.2294T>A
n.1661T>A
n.1007T>A
n.1425T>A
n.1876T>A
c.3281T>A (p.Leu1094Gln)
c.3119T>A (p.Leu1040Gln)
c.668T>A (p.Leu223Gln)
c.3095T>A (p.Leu1032Gln)
c.3182T>A (p.Leu1061Gln)
c.3317T>A (p.Leu1106Gln)
c.3218T>A (p.Leu1073Gln)
c.3155T>A (p.Leu1052Gln)
c.3020T>A (p.Leu1007Gln)
c.3098T>A (p.Leu1033Gln)
c.2897T>A (p.Leu966Gln)
c.2996T>A (p.Leu999Gln)
c.3326T>A (p.Leu1109Gln)
c.3131T>A (p.Leu1044Gln)
c.3104T>A (p.Leu1035Gln)
c.3083T>A (p.Leu1028Gln)
c.3056T>A (p.Leu1019Gln)
c.3254T>A (p.Leu1085Gln)
c.845T>A (p.Leu282Gln)
c.2699T>A (p.Leu900Gln)
c.809T>A (p.Leu270Gln)
c.3227T>A (p.Leu1076Gln)
c.3080T>A (p.Leu1027Gln)
c.2789T>A (p.Leu930Gln)
c.2939T>A (p.Leu980Gln)
n.129T>A
c.318T>A
c.3194T>A (p.Leu1065Gln)
c.3314T>A (p.Leu1105Gln)
c.3278T>A (p.Leu1093Gln)
c.3368T>A (p.Leu1123Gln)
c.3332T>A (p.Leu1111Gln)
c.3308T>A (p.Leu1103Gln)
c.3353T>A (p.Leu1118Gln)
c.3293T>A (p.Leu1098Gln)
c.3260T>A (p.Leu1087Gln)
c.3323T>A (p.Leu1108Gln)
c.3179T>A (p.Leu1060Gln)
c.3359T>A (p.Leu1120Gln)
c.3251T>A (p.Leu1084Gln)
c.3215T>A (p.Leu1072Gln)
c.3230T>A (p.Leu1077Gln)
c.3140T>A (p.Leu1047Gln)
c.3068T>A (p.Leu1023Gln)
c.3152T>A (p.Leu1051Gln)
c.2981T>A (p.Leu994Gln)
c.3398T>A (p.Leu1133Gln)
c.3284T>A (p.Leu1095Gln)
c.3266T>A (p.Leu1089Gln)
c.3338T>A (p.Leu1113Gln)
c.2798T>A (p.Leu933Gln)
c.3125T>A (p.Leu1042Gln)
c.3146T>A (p.Leu1049Gln)
4g.113333110T>CCA357936054ANK2c.3422T>C (p.Leu1141Pro)
c.3362T>C (p.Leu1121Pro)
n.1464T>C
n.918T>C
n.126T>C
n.6544T>C
n.4918T>C
n.38T>C
n.897T>C
n.2294T>C
n.1661T>C
n.1007T>C
n.1425T>C
n.1876T>C
c.3281T>C (p.Leu1094Pro)
c.3119T>C (p.Leu1040Pro)
c.668T>C (p.Leu223Pro)
c.3095T>C (p.Leu1032Pro)
c.3182T>C (p.Leu1061Pro)
c.3317T>C (p.Leu1106Pro)
c.3218T>C (p.Leu1073Pro)
c.3155T>C (p.Leu1052Pro)
c.3020T>C (p.Leu1007Pro)
c.3098T>C (p.Leu1033Pro)
c.2897T>C (p.Leu966Pro)
c.2996T>C (p.Leu999Pro)
c.3326T>C (p.Leu1109Pro)
c.3131T>C (p.Leu1044Pro)
c.3104T>C (p.Leu1035Pro)
c.3083T>C (p.Leu1028Pro)
c.3056T>C (p.Leu1019Pro)
c.3254T>C (p.Leu1085Pro)
c.845T>C (p.Leu282Pro)
c.2699T>C (p.Leu900Pro)
c.809T>C (p.Leu270Pro)
c.3227T>C (p.Leu1076Pro)
c.3080T>C (p.Leu1027Pro)
c.2789T>C (p.Leu930Pro)
c.2939T>C (p.Leu980Pro)
n.129T>C
c.318T>C
c.3194T>C (p.Leu1065Pro)
c.3314T>C (p.Leu1105Pro)
c.3278T>C (p.Leu1093Pro)
c.3368T>C (p.Leu1123Pro)
c.3332T>C (p.Leu1111Pro)
c.3308T>C (p.Leu1103Pro)
c.3353T>C (p.Leu1118Pro)
c.3293T>C (p.Leu1098Pro)
c.3260T>C (p.Leu1087Pro)
c.3323T>C (p.Leu1108Pro)
c.3179T>C (p.Leu1060Pro)
c.3359T>C (p.Leu1120Pro)
c.3251T>C (p.Leu1084Pro)
c.3215T>C (p.Leu1072Pro)
c.3230T>C (p.Leu1077Pro)
c.3140T>C (p.Leu1047Pro)
c.3068T>C (p.Leu1023Pro)
c.3152T>C (p.Leu1051Pro)
c.2981T>C (p.Leu994Pro)
c.3398T>C (p.Leu1133Pro)
c.3284T>C (p.Leu1095Pro)
c.3266T>C (p.Leu1089Pro)
c.3338T>C (p.Leu1113Pro)
c.2798T>C (p.Leu933Pro)
c.3125T>C (p.Leu1042Pro)
c.3146T>C (p.Leu1049Pro)
gnomAD v4
4g.113333110T>GCA357936055ANK2c.3422T>G (p.Leu1141Arg)
c.3362T>G (p.Leu1121Arg)
n.1464T>G
n.918T>G
n.126T>G
n.6544T>G
n.4918T>G
n.38T>G
n.897T>G
n.2294T>G
n.1661T>G
n.1007T>G
n.1425T>G
n.1876T>G
c.3281T>G (p.Leu1094Arg)
c.3119T>G (p.Leu1040Arg)
c.668T>G (p.Leu223Arg)
c.3095T>G (p.Leu1032Arg)
c.3182T>G (p.Leu1061Arg)
c.3317T>G (p.Leu1106Arg)
c.3218T>G (p.Leu1073Arg)
c.3155T>G (p.Leu1052Arg)
c.3020T>G (p.Leu1007Arg)
c.3098T>G (p.Leu1033Arg)
c.2897T>G (p.Leu966Arg)
c.2996T>G (p.Leu999Arg)
c.3326T>G (p.Leu1109Arg)
c.3131T>G (p.Leu1044Arg)
c.3104T>G (p.Leu1035Arg)
c.3083T>G (p.Leu1028Arg)
c.3056T>G (p.Leu1019Arg)
c.3254T>G (p.Leu1085Arg)
c.845T>G (p.Leu282Arg)
c.2699T>G (p.Leu900Arg)
c.809T>G (p.Leu270Arg)
c.3227T>G (p.Leu1076Arg)
c.3080T>G (p.Leu1027Arg)
c.2789T>G (p.Leu930Arg)
c.2939T>G (p.Leu980Arg)
n.129T>G
c.318T>G
c.3194T>G (p.Leu1065Arg)
c.3314T>G (p.Leu1105Arg)
c.3278T>G (p.Leu1093Arg)
c.3368T>G (p.Leu1123Arg)
c.3332T>G (p.Leu1111Arg)
c.3308T>G (p.Leu1103Arg)
c.3353T>G (p.Leu1118Arg)
c.3293T>G (p.Leu1098Arg)
c.3260T>G (p.Leu1087Arg)
c.3323T>G (p.Leu1108Arg)
c.3179T>G (p.Leu1060Arg)
c.3359T>G (p.Leu1120Arg)
c.3251T>G (p.Leu1084Arg)
c.3215T>G (p.Leu1072Arg)
c.3230T>G (p.Leu1077Arg)
c.3140T>G (p.Leu1047Arg)
c.3068T>G (p.Leu1023Arg)
c.3152T>G (p.Leu1051Arg)
c.2981T>G (p.Leu994Arg)
c.3398T>G (p.Leu1133Arg)
c.3284T>G (p.Leu1095Arg)
c.3266T>G (p.Leu1089Arg)
c.3338T>G (p.Leu1113Arg)
c.2798T>G (p.Leu933Arg)
c.3125T>G (p.Leu1042Arg)
c.3146T>G (p.Leu1049Arg)
4g.113333110dupCA2580071447ANK2c.3422dup (p.Val1142GlyfsTer6)
c.3362dup (p.Val1122GlyfsTer6)
n.1464dup
n.918dup
n.126dup
n.6544dup
n.4918dup
n.38dup
n.897dup
n.2294dup
n.1661dup
n.1007dup
n.1425dup
n.1876dup
c.3281dup (p.Val1095GlyfsTer6)
c.3119dup (p.Val1041GlyfsTer6)
c.668dup (p.Val224GlyfsTer6)
c.3095dup (p.Val1033GlyfsTer6)
c.3182dup (p.Val1062GlyfsTer6)
c.3317dup (p.Val1107GlyfsTer6)
c.3218dup (p.Val1074GlyfsTer6)
c.3155dup (p.Val1053GlyfsTer6)
c.3020dup (p.Val1008GlyfsTer6)
c.3098dup (p.Val1034GlyfsTer6)
c.2897dup (p.Val967GlyfsTer6)
c.2996dup (p.Val1000GlyfsTer6)
c.3326dup (p.Val1110GlyfsTer6)
c.3131dup (p.Val1045GlyfsTer6)
c.3104dup (p.Val1036GlyfsTer6)
c.3083dup (p.Val1029GlyfsTer6)
c.3056dup (p.Val1020GlyfsTer6)
c.3254dup (p.Val1086GlyfsTer6)
c.845dup (p.Val283GlyfsTer6)
c.2699dup (p.Val901GlyfsTer6)
c.809dup (p.Val271GlyfsTer6)
c.3227dup (p.Val1077GlyfsTer6)
c.3080dup (p.Val1028GlyfsTer6)
c.2789dup (p.Val931GlyfsTer6)
c.2939dup (p.Val981GlyfsTer6)
n.129dup
c.318dup
c.3194dup (p.Val1066GlyfsTer6)
c.3314dup (p.Val1106GlyfsTer6)
c.3278dup (p.Val1094GlyfsTer6)
c.3368dup (p.Val1124GlyfsTer6)
c.3332dup (p.Val1112GlyfsTer6)
c.3308dup (p.Val1104GlyfsTer6)
c.3353dup (p.Val1119GlyfsTer6)
c.3293dup (p.Val1099GlyfsTer6)
c.3260dup (p.Val1088GlyfsTer6)
c.3323dup (p.Val1109GlyfsTer6)
c.3179dup (p.Val1061GlyfsTer6)
c.3359dup (p.Val1121GlyfsTer6)
c.3251dup (p.Val1085GlyfsTer6)
c.3215dup (p.Val1073GlyfsTer6)
c.3230dup (p.Val1078GlyfsTer6)
c.3140dup (p.Val1048GlyfsTer6)
c.3068dup (p.Val1024GlyfsTer6)
c.3152dup (p.Val1052GlyfsTer6)
c.2981dup (p.Val995GlyfsTer6)
c.3398dup (p.Val1134GlyfsTer6)
c.3284dup (p.Val1096GlyfsTer6)
c.3266dup (p.Val1090GlyfsTer6)
c.3338dup (p.Val1114GlyfsTer6)
c.2798dup (p.Val934GlyfsTer6)
c.3125dup (p.Val1043GlyfsTer6)
c.3146dup (p.Val1050GlyfsTer6)
ClinVar
4g.113333111G>ACA440842845ANK2c.3423G>A (p.Leu1141=)
c.3363G>A (p.Leu1121=)
n.1465G>A
n.919G>A
n.127G>A
n.6545G>A
n.4919G>A
n.39G>A
n.898G>A
n.2295G>A
n.1662G>A
n.1008G>A
n.1426G>A
n.1877G>A
c.3282G>A (p.Leu1094=)
c.3120G>A (p.Leu1040=)
c.669G>A (p.Leu223=)
c.3096G>A (p.Leu1032=)
c.3183G>A (p.Leu1061=)
c.3318G>A (p.Leu1106=)
c.3219G>A (p.Leu1073=)
c.3156G>A (p.Leu1052=)
c.3021G>A (p.Leu1007=)
c.3099G>A (p.Leu1033=)
c.2898G>A (p.Leu966=)
c.2997G>A (p.Leu999=)
c.3327G>A (p.Leu1109=)
c.3132G>A (p.Leu1044=)
c.3105G>A (p.Leu1035=)
c.3084G>A (p.Leu1028=)
c.3057G>A (p.Leu1019=)
c.3255G>A (p.Leu1085=)
c.846G>A (p.Leu282=)
c.2700G>A (p.Leu900=)
c.810G>A (p.Leu270=)
c.3228G>A (p.Leu1076=)
c.3081G>A (p.Leu1027=)
c.2790G>A (p.Leu930=)
c.2940G>A (p.Leu980=)
n.130G>A
c.319G>A
c.3195G>A (p.Leu1065=)
c.3315G>A (p.Leu1105=)
c.3279G>A (p.Leu1093=)
c.3369G>A (p.Leu1123=)
c.3333G>A (p.Leu1111=)
c.3309G>A (p.Leu1103=)
c.3354G>A (p.Leu1118=)
c.3294G>A (p.Leu1098=)
c.3261G>A (p.Leu1087=)
c.3324G>A (p.Leu1108=)
c.3180G>A (p.Leu1060=)
c.3360G>A (p.Leu1120=)
c.3252G>A (p.Leu1084=)
c.3216G>A (p.Leu1072=)
c.3231G>A (p.Leu1077=)
c.3141G>A (p.Leu1047=)
c.3069G>A (p.Leu1023=)
c.3153G>A (p.Leu1051=)
c.2982G>A (p.Leu994=)
c.3399G>A (p.Leu1133=)
c.3285G>A (p.Leu1095=)
c.3267G>A (p.Leu1089=)
c.3339G>A (p.Leu1113=)
c.2799G>A (p.Leu933=)
c.3126G>A (p.Leu1042=)
c.3147G>A (p.Leu1049=)
dbSNP
4g.113333111G>CCA440842846ANK2c.3423G>C (p.Leu1141=)
c.3363G>C (p.Leu1121=)
n.1465G>C
n.919G>C
n.127G>C
n.6545G>C
n.4919G>C
n.39G>C
n.898G>C
n.2295G>C
n.1662G>C
n.1008G>C
n.1426G>C
n.1877G>C
c.3282G>C (p.Leu1094=)
c.3120G>C (p.Leu1040=)
c.669G>C (p.Leu223=)
c.3096G>C (p.Leu1032=)
c.3183G>C (p.Leu1061=)
c.3318G>C (p.Leu1106=)
c.3219G>C (p.Leu1073=)
c.3156G>C (p.Leu1052=)
c.3021G>C (p.Leu1007=)
c.3099G>C (p.Leu1033=)
c.2898G>C (p.Leu966=)
c.2997G>C (p.Leu999=)
c.3327G>C (p.Leu1109=)
c.3132G>C (p.Leu1044=)
c.3105G>C (p.Leu1035=)
c.3084G>C (p.Leu1028=)
c.3057G>C (p.Leu1019=)
c.3255G>C (p.Leu1085=)
c.846G>C (p.Leu282=)
c.2700G>C (p.Leu900=)
c.810G>C (p.Leu270=)
c.3228G>C (p.Leu1076=)
c.3081G>C (p.Leu1027=)
c.2790G>C (p.Leu930=)
c.2940G>C (p.Leu980=)
n.130G>C
c.319G>C
c.3195G>C (p.Leu1065=)
c.3315G>C (p.Leu1105=)
c.3279G>C (p.Leu1093=)
c.3369G>C (p.Leu1123=)
c.3333G>C (p.Leu1111=)
c.3309G>C (p.Leu1103=)
c.3354G>C (p.Leu1118=)
c.3294G>C (p.Leu1098=)
c.3261G>C (p.Leu1087=)
c.3324G>C (p.Leu1108=)
c.3180G>C (p.Leu1060=)
c.3360G>C (p.Leu1120=)
c.3252G>C (p.Leu1084=)
c.3216G>C (p.Leu1072=)
c.3231G>C (p.Leu1077=)
c.3141G>C (p.Leu1047=)
c.3069G>C (p.Leu1023=)
c.3153G>C (p.Leu1051=)
c.2982G>C (p.Leu994=)
c.3399G>C (p.Leu1133=)
c.3285G>C (p.Leu1095=)
c.3267G>C (p.Leu1089=)
c.3339G>C (p.Leu1113=)
c.2799G>C (p.Leu933=)
c.3126G>C (p.Leu1042=)
c.3147G>C (p.Leu1049=)
dbSNP
4g.113333111G>TCA440842844ANK2c.3423G>T (p.Leu1141=)
c.3363G>T (p.Leu1121=)
n.1465G>T
n.919G>T
n.127G>T
n.6545G>T
n.4919G>T
n.39G>T
n.898G>T
n.2295G>T
n.1662G>T
n.1008G>T
n.1426G>T
n.1877G>T
c.3282G>T (p.Leu1094=)
c.3120G>T (p.Leu1040=)
c.669G>T (p.Leu223=)
c.3096G>T (p.Leu1032=)
c.3183G>T (p.Leu1061=)
c.3318G>T (p.Leu1106=)
c.3219G>T (p.Leu1073=)
c.3156G>T (p.Leu1052=)
c.3021G>T (p.Leu1007=)
c.3099G>T (p.Leu1033=)
c.2898G>T (p.Leu966=)
c.2997G>T (p.Leu999=)
c.3327G>T (p.Leu1109=)
c.3132G>T (p.Leu1044=)
c.3105G>T (p.Leu1035=)
c.3084G>T (p.Leu1028=)
c.3057G>T (p.Leu1019=)
c.3255G>T (p.Leu1085=)
c.846G>T (p.Leu282=)
c.2700G>T (p.Leu900=)
c.810G>T (p.Leu270=)
c.3228G>T (p.Leu1076=)
c.3081G>T (p.Leu1027=)
c.2790G>T (p.Leu930=)
c.2940G>T (p.Leu980=)
n.130G>T
c.319G>T
c.3195G>T (p.Leu1065=)
c.3315G>T (p.Leu1105=)
c.3279G>T (p.Leu1093=)
c.3369G>T (p.Leu1123=)
c.3333G>T (p.Leu1111=)
c.3309G>T (p.Leu1103=)
c.3354G>T (p.Leu1118=)
c.3294G>T (p.Leu1098=)
c.3261G>T (p.Leu1087=)
c.3324G>T (p.Leu1108=)
c.3180G>T (p.Leu1060=)
c.3360G>T (p.Leu1120=)
c.3252G>T (p.Leu1084=)
c.3216G>T (p.Leu1072=)
c.3231G>T (p.Leu1077=)
c.3141G>T (p.Leu1047=)
c.3069G>T (p.Leu1023=)
c.3153G>T (p.Leu1051=)
c.2982G>T (p.Leu994=)
c.3399G>T (p.Leu1133=)
c.3285G>T (p.Leu1095=)
c.3267G>T (p.Leu1089=)
c.3339G>T (p.Leu1113=)
c.2799G>T (p.Leu933=)
c.3126G>T (p.Leu1042=)
c.3147G>T (p.Leu1049=)
4g.113333112G>ACA357936058ANK2c.3424G>A (p.Val1142Met)
c.3364G>A (p.Val1122Met)
n.1466G>A
n.920G>A
n.128G>A
n.6546G>A
n.4920G>A
n.40G>A
n.899G>A
n.2296G>A
n.1663G>A
n.1009G>A
n.1427G>A
n.1878G>A
c.3283G>A (p.Val1095Met)
c.3121G>A (p.Val1041Met)
c.670G>A (p.Val224Met)
c.3097G>A (p.Val1033Met)
c.3184G>A (p.Val1062Met)
c.3319G>A (p.Val1107Met)
c.3220G>A (p.Val1074Met)
c.3157G>A (p.Val1053Met)
c.3022G>A (p.Val1008Met)
c.3100G>A (p.Val1034Met)
c.2899G>A (p.Val967Met)
c.2998G>A (p.Val1000Met)
c.3328G>A (p.Val1110Met)
c.3133G>A (p.Val1045Met)
c.3106G>A (p.Val1036Met)
c.3085G>A (p.Val1029Met)
c.3058G>A (p.Val1020Met)
c.3256G>A (p.Val1086Met)
c.847G>A (p.Val283Met)
c.2701G>A (p.Val901Met)
c.811G>A (p.Val271Met)
c.3229G>A (p.Val1077Met)
c.3082G>A (p.Val1028Met)
c.2791G>A (p.Val931Met)
c.2941G>A (p.Val981Met)
n.131G>A
c.320G>A
c.3196G>A (p.Val1066Met)
c.3316G>A (p.Val1106Met)
c.3280G>A (p.Val1094Met)
c.3370G>A (p.Val1124Met)
c.3334G>A (p.Val1112Met)
c.3310G>A (p.Val1104Met)
c.3355G>A (p.Val1119Met)
c.3295G>A (p.Val1099Met)
c.3262G>A (p.Val1088Met)
c.3325G>A (p.Val1109Met)
c.3181G>A (p.Val1061Met)
c.3361G>A (p.Val1121Met)
c.3253G>A (p.Val1085Met)
c.3217G>A (p.Val1073Met)
c.3232G>A (p.Val1078Met)
c.3142G>A (p.Val1048Met)
c.3070G>A (p.Val1024Met)
c.3154G>A (p.Val1052Met)
c.2983G>A (p.Val995Met)
c.3400G>A (p.Val1134Met)
c.3286G>A (p.Val1096Met)
c.3268G>A (p.Val1090Met)
c.3340G>A (p.Val1114Met)
c.2800G>A (p.Val934Met)
c.3127G>A (p.Val1043Met)
c.3148G>A (p.Val1050Met)
dbSNP
4g.113333112G>CCA357936059ANK2c.3424G>C (p.Val1142Leu)
c.3364G>C (p.Val1122Leu)
n.1466G>C
n.920G>C
n.128G>C
n.6546G>C
n.4920G>C
n.40G>C
n.899G>C
n.2296G>C
n.1663G>C
n.1009G>C
n.1427G>C
n.1878G>C
c.3283G>C (p.Val1095Leu)
c.3121G>C (p.Val1041Leu)
c.670G>C (p.Val224Leu)
c.3097G>C (p.Val1033Leu)
c.3184G>C (p.Val1062Leu)
c.3319G>C (p.Val1107Leu)
c.3220G>C (p.Val1074Leu)
c.3157G>C (p.Val1053Leu)
c.3022G>C (p.Val1008Leu)
c.3100G>C (p.Val1034Leu)
c.2899G>C (p.Val967Leu)
c.2998G>C (p.Val1000Leu)
c.3328G>C (p.Val1110Leu)
c.3133G>C (p.Val1045Leu)
c.3106G>C (p.Val1036Leu)
c.3085G>C (p.Val1029Leu)
c.3058G>C (p.Val1020Leu)
c.3256G>C (p.Val1086Leu)
c.847G>C (p.Val283Leu)
c.2701G>C (p.Val901Leu)
c.811G>C (p.Val271Leu)
c.3229G>C (p.Val1077Leu)
c.3082G>C (p.Val1028Leu)
c.2791G>C (p.Val931Leu)
c.2941G>C (p.Val981Leu)
n.131G>C
c.320G>C
c.3196G>C (p.Val1066Leu)
c.3316G>C (p.Val1106Leu)
c.3280G>C (p.Val1094Leu)
c.3370G>C (p.Val1124Leu)
c.3334G>C (p.Val1112Leu)
c.3310G>C (p.Val1104Leu)
c.3355G>C (p.Val1119Leu)
c.3295G>C (p.Val1099Leu)
c.3262G>C (p.Val1088Leu)
c.3325G>C (p.Val1109Leu)
c.3181G>C (p.Val1061Leu)
c.3361G>C (p.Val1121Leu)
c.3253G>C (p.Val1085Leu)
c.3217G>C (p.Val1073Leu)
c.3232G>C (p.Val1078Leu)
c.3142G>C (p.Val1048Leu)
c.3070G>C (p.Val1024Leu)
c.3154G>C (p.Val1052Leu)
c.2983G>C (p.Val995Leu)
c.3400G>C (p.Val1134Leu)
c.3286G>C (p.Val1096Leu)
c.3268G>C (p.Val1090Leu)
c.3340G>C (p.Val1114Leu)
c.2800G>C (p.Val934Leu)
c.3127G>C (p.Val1043Leu)
c.3148G>C (p.Val1050Leu)
dbSNP
4g.113333112G>TCA357936060ANK2c.3424G>T (p.Val1142Leu)
c.3364G>T (p.Val1122Leu)
n.1466G>T
n.920G>T
n.128G>T
n.6546G>T
n.4920G>T
n.40G>T
n.899G>T
n.2296G>T
n.1663G>T
n.1009G>T
n.1427G>T
n.1878G>T
c.3283G>T (p.Val1095Leu)
c.3121G>T (p.Val1041Leu)
c.670G>T (p.Val224Leu)
c.3097G>T (p.Val1033Leu)
c.3184G>T (p.Val1062Leu)
c.3319G>T (p.Val1107Leu)
c.3220G>T (p.Val1074Leu)
c.3157G>T (p.Val1053Leu)
c.3022G>T (p.Val1008Leu)
c.3100G>T (p.Val1034Leu)
c.2899G>T (p.Val967Leu)
c.2998G>T (p.Val1000Leu)
c.3328G>T (p.Val1110Leu)
c.3133G>T (p.Val1045Leu)
c.3106G>T (p.Val1036Leu)
c.3085G>T (p.Val1029Leu)
c.3058G>T (p.Val1020Leu)
c.3256G>T (p.Val1086Leu)
c.847G>T (p.Val283Leu)
c.2701G>T (p.Val901Leu)
c.811G>T (p.Val271Leu)
c.3229G>T (p.Val1077Leu)
c.3082G>T (p.Val1028Leu)
c.2791G>T (p.Val931Leu)
c.2941G>T (p.Val981Leu)
n.131G>T
c.320G>T
c.3196G>T (p.Val1066Leu)
c.3316G>T (p.Val1106Leu)
c.3280G>T (p.Val1094Leu)
c.3370G>T (p.Val1124Leu)
c.3334G>T (p.Val1112Leu)
c.3310G>T (p.Val1104Leu)
c.3355G>T (p.Val1119Leu)
c.3295G>T (p.Val1099Leu)
c.3262G>T (p.Val1088Leu)
c.3325G>T (p.Val1109Leu)
c.3181G>T (p.Val1061Leu)
c.3361G>T (p.Val1121Leu)
c.3253G>T (p.Val1085Leu)
c.3217G>T (p.Val1073Leu)
c.3232G>T (p.Val1078Leu)
c.3142G>T (p.Val1048Leu)
c.3070G>T (p.Val1024Leu)
c.3154G>T (p.Val1052Leu)
c.2983G>T (p.Val995Leu)
c.3400G>T (p.Val1134Leu)
c.3286G>T (p.Val1096Leu)
c.3268G>T (p.Val1090Leu)
c.3340G>T (p.Val1114Leu)
c.2800G>T (p.Val934Leu)
c.3127G>T (p.Val1043Leu)
c.3148G>T (p.Val1050Leu)
dbSNP
4g.113333113T>ACA357936062ANK2c.3425T>A (p.Val1142Glu)
c.3365T>A (p.Val1122Glu)
n.1467T>A
n.921T>A
n.129T>A
n.6547T>A
n.4921T>A
n.41T>A
n.900T>A
n.2297T>A
n.1664T>A
n.1010T>A
n.1428T>A
n.1879T>A
c.3284T>A (p.Val1095Glu)
c.3122T>A (p.Val1041Glu)
c.671T>A (p.Val224Glu)
c.3098T>A (p.Val1033Glu)
c.3185T>A (p.Val1062Glu)
c.3320T>A (p.Val1107Glu)
c.3221T>A (p.Val1074Glu)
c.3158T>A (p.Val1053Glu)
c.3023T>A (p.Val1008Glu)
c.3101T>A (p.Val1034Glu)
c.2900T>A (p.Val967Glu)
c.2999T>A (p.Val1000Glu)
c.3329T>A (p.Val1110Glu)
c.3134T>A (p.Val1045Glu)
c.3107T>A (p.Val1036Glu)
c.3086T>A (p.Val1029Glu)
c.3059T>A (p.Val1020Glu)
c.3257T>A (p.Val1086Glu)
c.848T>A (p.Val283Glu)
c.2702T>A (p.Val901Glu)
c.812T>A (p.Val271Glu)
c.3230T>A (p.Val1077Glu)
c.3083T>A (p.Val1028Glu)
c.2792T>A (p.Val931Glu)
c.2942T>A (p.Val981Glu)
n.132T>A
c.321T>A
c.3197T>A (p.Val1066Glu)
c.3317T>A (p.Val1106Glu)
c.3281T>A (p.Val1094Glu)
c.3371T>A (p.Val1124Glu)
c.3335T>A (p.Val1112Glu)
c.3311T>A (p.Val1104Glu)
c.3356T>A (p.Val1119Glu)
c.3296T>A (p.Val1099Glu)
c.3263T>A (p.Val1088Glu)
c.3326T>A (p.Val1109Glu)
c.3182T>A (p.Val1061Glu)
c.3362T>A (p.Val1121Glu)
c.3254T>A (p.Val1085Glu)
c.3218T>A (p.Val1073Glu)
c.3233T>A (p.Val1078Glu)
c.3143T>A (p.Val1048Glu)
c.3071T>A (p.Val1024Glu)
c.3155T>A (p.Val1052Glu)
c.2984T>A (p.Val995Glu)
c.3401T>A (p.Val1134Glu)
c.3287T>A (p.Val1096Glu)
c.3269T>A (p.Val1090Glu)
c.3341T>A (p.Val1114Glu)
c.2801T>A (p.Val934Glu)
c.3128T>A (p.Val1043Glu)
c.3149T>A (p.Val1050Glu)

Number of alleles fetched