Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
4 | g.113333085G>A | CA357935944 | ANK2 | c.3397G>A (p.Ala1133Thr) c.3337G>A (p.Ala1113Thr) n.1439G>A n.893G>A n.101G>A n.6519G>A n.4893G>A n.13G>A n.872G>A n.2269G>A n.1636G>A n.982G>A n.1400G>A n.1851G>A c.3256G>A (p.Ala1086Thr) c.3094G>A (p.Ala1032Thr) c.643G>A (p.Ala215Thr) c.3070G>A (p.Ala1024Thr) c.3157G>A (p.Ala1053Thr) c.3292G>A (p.Ala1098Thr) c.3193G>A (p.Ala1065Thr) c.3130G>A (p.Ala1044Thr) c.2995G>A (p.Ala999Thr) c.3073G>A (p.Ala1025Thr) c.2872G>A (p.Ala958Thr) c.2971G>A (p.Ala991Thr) c.3301G>A (p.Ala1101Thr) c.3106G>A (p.Ala1036Thr) c.3079G>A (p.Ala1027Thr) c.3058G>A (p.Ala1020Thr) c.3031G>A (p.Ala1011Thr) c.3229G>A (p.Ala1077Thr) c.820G>A (p.Ala274Thr) c.2674G>A (p.Ala892Thr) c.784G>A (p.Ala262Thr) c.3202G>A (p.Ala1068Thr) c.3055G>A (p.Ala1019Thr) c.2764G>A (p.Ala922Thr) c.2914G>A (p.Ala972Thr) n.104G>A c.293G>A c.3169G>A (p.Ala1057Thr) c.3289G>A (p.Ala1097Thr) c.3253G>A (p.Ala1085Thr) c.3343G>A (p.Ala1115Thr) c.3307G>A (p.Ala1103Thr) c.3283G>A (p.Ala1095Thr) c.3328G>A (p.Ala1110Thr) c.3268G>A (p.Ala1090Thr) c.3235G>A (p.Ala1079Thr) c.3298G>A (p.Ala1100Thr) c.3154G>A (p.Ala1052Thr) c.3334G>A (p.Ala1112Thr) c.3226G>A (p.Ala1076Thr) c.3190G>A (p.Ala1064Thr) c.3205G>A (p.Ala1069Thr) c.3115G>A (p.Ala1039Thr) c.3043G>A (p.Ala1015Thr) c.3127G>A (p.Ala1043Thr) c.2956G>A (p.Ala986Thr) c.3373G>A (p.Ala1125Thr) c.3259G>A (p.Ala1087Thr) c.3241G>A (p.Ala1081Thr) c.3313G>A (p.Ala1105Thr) c.2773G>A (p.Ala925Thr) c.3100G>A (p.Ala1034Thr) c.3121G>A (p.Ala1041Thr) | dbSNP |
4 | g.113333085G>C | CA357935946 | ANK2 | c.3397G>C (p.Ala1133Pro) c.3337G>C (p.Ala1113Pro) n.1439G>C n.893G>C n.101G>C n.6519G>C n.4893G>C n.13G>C n.872G>C n.2269G>C n.1636G>C n.982G>C n.1400G>C n.1851G>C c.3256G>C (p.Ala1086Pro) c.3094G>C (p.Ala1032Pro) c.643G>C (p.Ala215Pro) c.3070G>C (p.Ala1024Pro) c.3157G>C (p.Ala1053Pro) c.3292G>C (p.Ala1098Pro) c.3193G>C (p.Ala1065Pro) c.3130G>C (p.Ala1044Pro) c.2995G>C (p.Ala999Pro) c.3073G>C (p.Ala1025Pro) c.2872G>C (p.Ala958Pro) c.2971G>C (p.Ala991Pro) c.3301G>C (p.Ala1101Pro) c.3106G>C (p.Ala1036Pro) c.3079G>C (p.Ala1027Pro) c.3058G>C (p.Ala1020Pro) c.3031G>C (p.Ala1011Pro) c.3229G>C (p.Ala1077Pro) c.820G>C (p.Ala274Pro) c.2674G>C (p.Ala892Pro) c.784G>C (p.Ala262Pro) c.3202G>C (p.Ala1068Pro) c.3055G>C (p.Ala1019Pro) c.2764G>C (p.Ala922Pro) c.2914G>C (p.Ala972Pro) n.104G>C c.293G>C c.3169G>C (p.Ala1057Pro) c.3289G>C (p.Ala1097Pro) c.3253G>C (p.Ala1085Pro) c.3343G>C (p.Ala1115Pro) c.3307G>C (p.Ala1103Pro) c.3283G>C (p.Ala1095Pro) c.3328G>C (p.Ala1110Pro) c.3268G>C (p.Ala1090Pro) c.3235G>C (p.Ala1079Pro) c.3298G>C (p.Ala1100Pro) c.3154G>C (p.Ala1052Pro) c.3334G>C (p.Ala1112Pro) c.3226G>C (p.Ala1076Pro) c.3190G>C (p.Ala1064Pro) c.3205G>C (p.Ala1069Pro) c.3115G>C (p.Ala1039Pro) c.3043G>C (p.Ala1015Pro) c.3127G>C (p.Ala1043Pro) c.2956G>C (p.Ala986Pro) c.3373G>C (p.Ala1125Pro) c.3259G>C (p.Ala1087Pro) c.3241G>C (p.Ala1081Pro) c.3313G>C (p.Ala1105Pro) c.2773G>C (p.Ala925Pro) c.3100G>C (p.Ala1034Pro) c.3121G>C (p.Ala1041Pro) | dbSNP |
4 | g.113333085G>T | CA357935948 | ANK2 | c.3397G>T (p.Ala1133Ser) c.3337G>T (p.Ala1113Ser) n.1439G>T n.893G>T n.101G>T n.6519G>T n.4893G>T n.13G>T n.872G>T n.2269G>T n.1636G>T n.982G>T n.1400G>T n.1851G>T c.3256G>T (p.Ala1086Ser) c.3094G>T (p.Ala1032Ser) c.643G>T (p.Ala215Ser) c.3070G>T (p.Ala1024Ser) c.3157G>T (p.Ala1053Ser) c.3292G>T (p.Ala1098Ser) c.3193G>T (p.Ala1065Ser) c.3130G>T (p.Ala1044Ser) c.2995G>T (p.Ala999Ser) c.3073G>T (p.Ala1025Ser) c.2872G>T (p.Ala958Ser) c.2971G>T (p.Ala991Ser) c.3301G>T (p.Ala1101Ser) c.3106G>T (p.Ala1036Ser) c.3079G>T (p.Ala1027Ser) c.3058G>T (p.Ala1020Ser) c.3031G>T (p.Ala1011Ser) c.3229G>T (p.Ala1077Ser) c.820G>T (p.Ala274Ser) c.2674G>T (p.Ala892Ser) c.784G>T (p.Ala262Ser) c.3202G>T (p.Ala1068Ser) c.3055G>T (p.Ala1019Ser) c.2764G>T (p.Ala922Ser) c.2914G>T (p.Ala972Ser) n.104G>T c.293G>T c.3169G>T (p.Ala1057Ser) c.3289G>T (p.Ala1097Ser) c.3253G>T (p.Ala1085Ser) c.3343G>T (p.Ala1115Ser) c.3307G>T (p.Ala1103Ser) c.3283G>T (p.Ala1095Ser) c.3328G>T (p.Ala1110Ser) c.3268G>T (p.Ala1090Ser) c.3235G>T (p.Ala1079Ser) c.3298G>T (p.Ala1100Ser) c.3154G>T (p.Ala1052Ser) c.3334G>T (p.Ala1112Ser) c.3226G>T (p.Ala1076Ser) c.3190G>T (p.Ala1064Ser) c.3205G>T (p.Ala1069Ser) c.3115G>T (p.Ala1039Ser) c.3043G>T (p.Ala1015Ser) c.3127G>T (p.Ala1043Ser) c.2956G>T (p.Ala986Ser) c.3373G>T (p.Ala1125Ser) c.3259G>T (p.Ala1087Ser) c.3241G>T (p.Ala1081Ser) c.3313G>T (p.Ala1105Ser) c.2773G>T (p.Ala925Ser) c.3100G>T (p.Ala1034Ser) c.3121G>T (p.Ala1041Ser) | dbSNP |
4 | g.113333086C>A | CA357935950 | ANK2 | c.3398C>A (p.Ala1133Asp) c.3338C>A (p.Ala1113Asp) n.1440C>A n.894C>A n.102C>A n.6520C>A n.4894C>A n.14C>A n.873C>A n.2270C>A n.1637C>A n.983C>A n.1401C>A n.1852C>A c.3257C>A (p.Ala1086Asp) c.3095C>A (p.Ala1032Asp) c.644C>A (p.Ala215Asp) c.3071C>A (p.Ala1024Asp) c.3158C>A (p.Ala1053Asp) c.3293C>A (p.Ala1098Asp) c.3194C>A (p.Ala1065Asp) c.3131C>A (p.Ala1044Asp) c.2996C>A (p.Ala999Asp) c.3074C>A (p.Ala1025Asp) c.2873C>A (p.Ala958Asp) c.2972C>A (p.Ala991Asp) c.3302C>A (p.Ala1101Asp) c.3107C>A (p.Ala1036Asp) c.3080C>A (p.Ala1027Asp) c.3059C>A (p.Ala1020Asp) c.3032C>A (p.Ala1011Asp) c.3230C>A (p.Ala1077Asp) c.821C>A (p.Ala274Asp) c.2675C>A (p.Ala892Asp) c.785C>A (p.Ala262Asp) c.3203C>A (p.Ala1068Asp) c.3056C>A (p.Ala1019Asp) c.2765C>A (p.Ala922Asp) c.2915C>A (p.Ala972Asp) n.105C>A c.294C>A c.3170C>A (p.Ala1057Asp) c.3290C>A (p.Ala1097Asp) c.3254C>A (p.Ala1085Asp) c.3344C>A (p.Ala1115Asp) c.3308C>A (p.Ala1103Asp) c.3284C>A (p.Ala1095Asp) c.3329C>A (p.Ala1110Asp) c.3269C>A (p.Ala1090Asp) c.3236C>A (p.Ala1079Asp) c.3299C>A (p.Ala1100Asp) c.3155C>A (p.Ala1052Asp) c.3335C>A (p.Ala1112Asp) c.3227C>A (p.Ala1076Asp) c.3191C>A (p.Ala1064Asp) c.3206C>A (p.Ala1069Asp) c.3116C>A (p.Ala1039Asp) c.3044C>A (p.Ala1015Asp) c.3128C>A (p.Ala1043Asp) c.2957C>A (p.Ala986Asp) c.3374C>A (p.Ala1125Asp) c.3260C>A (p.Ala1087Asp) c.3242C>A (p.Ala1081Asp) c.3314C>A (p.Ala1105Asp) c.2774C>A (p.Ala925Asp) c.3101C>A (p.Ala1034Asp) c.3122C>A (p.Ala1041Asp) | dbSNP |
4 | g.113333086C>G | CA357935952 | ANK2 | c.3398C>G (p.Ala1133Gly) c.3338C>G (p.Ala1113Gly) n.1440C>G n.894C>G n.102C>G n.6520C>G n.4894C>G n.14C>G n.873C>G n.2270C>G n.1637C>G n.983C>G n.1401C>G n.1852C>G c.3257C>G (p.Ala1086Gly) c.3095C>G (p.Ala1032Gly) c.644C>G (p.Ala215Gly) c.3071C>G (p.Ala1024Gly) c.3158C>G (p.Ala1053Gly) c.3293C>G (p.Ala1098Gly) c.3194C>G (p.Ala1065Gly) c.3131C>G (p.Ala1044Gly) c.2996C>G (p.Ala999Gly) c.3074C>G (p.Ala1025Gly) c.2873C>G (p.Ala958Gly) c.2972C>G (p.Ala991Gly) c.3302C>G (p.Ala1101Gly) c.3107C>G (p.Ala1036Gly) c.3080C>G (p.Ala1027Gly) c.3059C>G (p.Ala1020Gly) c.3032C>G (p.Ala1011Gly) c.3230C>G (p.Ala1077Gly) c.821C>G (p.Ala274Gly) c.2675C>G (p.Ala892Gly) c.785C>G (p.Ala262Gly) c.3203C>G (p.Ala1068Gly) c.3056C>G (p.Ala1019Gly) c.2765C>G (p.Ala922Gly) c.2915C>G (p.Ala972Gly) n.105C>G c.294C>G c.3170C>G (p.Ala1057Gly) c.3290C>G (p.Ala1097Gly) c.3254C>G (p.Ala1085Gly) c.3344C>G (p.Ala1115Gly) c.3308C>G (p.Ala1103Gly) c.3284C>G (p.Ala1095Gly) c.3329C>G (p.Ala1110Gly) c.3269C>G (p.Ala1090Gly) c.3236C>G (p.Ala1079Gly) c.3299C>G (p.Ala1100Gly) c.3155C>G (p.Ala1052Gly) c.3335C>G (p.Ala1112Gly) c.3227C>G (p.Ala1076Gly) c.3191C>G (p.Ala1064Gly) c.3206C>G (p.Ala1069Gly) c.3116C>G (p.Ala1039Gly) c.3044C>G (p.Ala1015Gly) c.3128C>G (p.Ala1043Gly) c.2957C>G (p.Ala986Gly) c.3374C>G (p.Ala1125Gly) c.3260C>G (p.Ala1087Gly) c.3242C>G (p.Ala1081Gly) c.3314C>G (p.Ala1105Gly) c.2774C>G (p.Ala925Gly) c.3101C>G (p.Ala1034Gly) c.3122C>G (p.Ala1041Gly) | dbSNP gnomAD v4 |
4 | g.113333086C>T | CA357935954 | ANK2 | c.3398C>T (p.Ala1133Val) c.3338C>T (p.Ala1113Val) n.1440C>T n.894C>T n.102C>T n.6520C>T n.4894C>T n.14C>T n.873C>T n.2270C>T n.1637C>T n.983C>T n.1401C>T n.1852C>T c.3257C>T (p.Ala1086Val) c.3095C>T (p.Ala1032Val) c.644C>T (p.Ala215Val) c.3071C>T (p.Ala1024Val) c.3158C>T (p.Ala1053Val) c.3293C>T (p.Ala1098Val) c.3194C>T (p.Ala1065Val) c.3131C>T (p.Ala1044Val) c.2996C>T (p.Ala999Val) c.3074C>T (p.Ala1025Val) c.2873C>T (p.Ala958Val) c.2972C>T (p.Ala991Val) c.3302C>T (p.Ala1101Val) c.3107C>T (p.Ala1036Val) c.3080C>T (p.Ala1027Val) c.3059C>T (p.Ala1020Val) c.3032C>T (p.Ala1011Val) c.3230C>T (p.Ala1077Val) c.821C>T (p.Ala274Val) c.2675C>T (p.Ala892Val) c.785C>T (p.Ala262Val) c.3203C>T (p.Ala1068Val) c.3056C>T (p.Ala1019Val) c.2765C>T (p.Ala922Val) c.2915C>T (p.Ala972Val) n.105C>T c.294C>T c.3170C>T (p.Ala1057Val) c.3290C>T (p.Ala1097Val) c.3254C>T (p.Ala1085Val) c.3344C>T (p.Ala1115Val) c.3308C>T (p.Ala1103Val) c.3284C>T (p.Ala1095Val) c.3329C>T (p.Ala1110Val) c.3269C>T (p.Ala1090Val) c.3236C>T (p.Ala1079Val) c.3299C>T (p.Ala1100Val) c.3155C>T (p.Ala1052Val) c.3335C>T (p.Ala1112Val) c.3227C>T (p.Ala1076Val) c.3191C>T (p.Ala1064Val) c.3206C>T (p.Ala1069Val) c.3116C>T (p.Ala1039Val) c.3044C>T (p.Ala1015Val) c.3128C>T (p.Ala1043Val) c.2957C>T (p.Ala986Val) c.3374C>T (p.Ala1125Val) c.3260C>T (p.Ala1087Val) c.3242C>T (p.Ala1081Val) c.3314C>T (p.Ala1105Val) c.2774C>T (p.Ala925Val) c.3101C>T (p.Ala1034Val) c.3122C>T (p.Ala1041Val) | dbSNP |
4 | g.113333087C>A | CA440842814 | ANK2 | c.3399C>A (p.Ala1133=) c.3339C>A (p.Ala1113=) n.1441C>A n.895C>A n.103C>A n.6521C>A n.4895C>A n.15C>A n.874C>A n.2271C>A n.1638C>A n.984C>A n.1402C>A n.1853C>A c.3258C>A (p.Ala1086=) c.3096C>A (p.Ala1032=) c.645C>A (p.Ala215=) c.3072C>A (p.Ala1024=) c.3159C>A (p.Ala1053=) c.3294C>A (p.Ala1098=) c.3195C>A (p.Ala1065=) c.3132C>A (p.Ala1044=) c.2997C>A (p.Ala999=) c.3075C>A (p.Ala1025=) c.2874C>A (p.Ala958=) c.2973C>A (p.Ala991=) c.3303C>A (p.Ala1101=) c.3108C>A (p.Ala1036=) c.3081C>A (p.Ala1027=) c.3060C>A (p.Ala1020=) c.3033C>A (p.Ala1011=) c.3231C>A (p.Ala1077=) c.822C>A (p.Ala274=) c.2676C>A (p.Ala892=) c.786C>A (p.Ala262=) c.3204C>A (p.Ala1068=) c.3057C>A (p.Ala1019=) c.2766C>A (p.Ala922=) c.2916C>A (p.Ala972=) n.106C>A c.295C>A c.3171C>A (p.Ala1057=) c.3291C>A (p.Ala1097=) c.3255C>A (p.Ala1085=) c.3345C>A (p.Ala1115=) c.3309C>A (p.Ala1103=) c.3285C>A (p.Ala1095=) c.3330C>A (p.Ala1110=) c.3270C>A (p.Ala1090=) c.3237C>A (p.Ala1079=) c.3300C>A (p.Ala1100=) c.3156C>A (p.Ala1052=) c.3336C>A (p.Ala1112=) c.3228C>A (p.Ala1076=) c.3192C>A (p.Ala1064=) c.3207C>A (p.Ala1069=) c.3117C>A (p.Ala1039=) c.3045C>A (p.Ala1015=) c.3129C>A (p.Ala1043=) c.2958C>A (p.Ala986=) c.3375C>A (p.Ala1125=) c.3261C>A (p.Ala1087=) c.3243C>A (p.Ala1081=) c.3315C>A (p.Ala1105=) c.2775C>A (p.Ala925=) c.3102C>A (p.Ala1034=) c.3123C>A (p.Ala1041=) | dbSNP |
4 | g.113333087C>G | CA440842815 | ANK2 | c.3399C>G (p.Ala1133=) c.3339C>G (p.Ala1113=) n.1441C>G n.895C>G n.103C>G n.6521C>G n.4895C>G n.15C>G n.874C>G n.2271C>G n.1638C>G n.984C>G n.1402C>G n.1853C>G c.3258C>G (p.Ala1086=) c.3096C>G (p.Ala1032=) c.645C>G (p.Ala215=) c.3072C>G (p.Ala1024=) c.3159C>G (p.Ala1053=) c.3294C>G (p.Ala1098=) c.3195C>G (p.Ala1065=) c.3132C>G (p.Ala1044=) c.2997C>G (p.Ala999=) c.3075C>G (p.Ala1025=) c.2874C>G (p.Ala958=) c.2973C>G (p.Ala991=) c.3303C>G (p.Ala1101=) c.3108C>G (p.Ala1036=) c.3081C>G (p.Ala1027=) c.3060C>G (p.Ala1020=) c.3033C>G (p.Ala1011=) c.3231C>G (p.Ala1077=) c.822C>G (p.Ala274=) c.2676C>G (p.Ala892=) c.786C>G (p.Ala262=) c.3204C>G (p.Ala1068=) c.3057C>G (p.Ala1019=) c.2766C>G (p.Ala922=) c.2916C>G (p.Ala972=) n.106C>G c.295C>G c.3171C>G (p.Ala1057=) c.3291C>G (p.Ala1097=) c.3255C>G (p.Ala1085=) c.3345C>G (p.Ala1115=) c.3309C>G (p.Ala1103=) c.3285C>G (p.Ala1095=) c.3330C>G (p.Ala1110=) c.3270C>G (p.Ala1090=) c.3237C>G (p.Ala1079=) c.3300C>G (p.Ala1100=) c.3156C>G (p.Ala1052=) c.3336C>G (p.Ala1112=) c.3228C>G (p.Ala1076=) c.3192C>G (p.Ala1064=) c.3207C>G (p.Ala1069=) c.3117C>G (p.Ala1039=) c.3045C>G (p.Ala1015=) c.3129C>G (p.Ala1043=) c.2958C>G (p.Ala986=) c.3375C>G (p.Ala1125=) c.3261C>G (p.Ala1087=) c.3243C>G (p.Ala1081=) c.3315C>G (p.Ala1105=) c.2775C>G (p.Ala925=) c.3102C>G (p.Ala1034=) c.3123C>G (p.Ala1041=) | dbSNP gnomAD v4 |
4 | g.113333087C>T | CA440842817 | ANK2 | c.3399C>T (p.Ala1133=) c.3339C>T (p.Ala1113=) n.1441C>T n.895C>T n.103C>T n.6521C>T n.4895C>T n.15C>T n.874C>T n.2271C>T n.1638C>T n.984C>T n.1402C>T n.1853C>T c.3258C>T (p.Ala1086=) c.3096C>T (p.Ala1032=) c.645C>T (p.Ala215=) c.3072C>T (p.Ala1024=) c.3159C>T (p.Ala1053=) c.3294C>T (p.Ala1098=) c.3195C>T (p.Ala1065=) c.3132C>T (p.Ala1044=) c.2997C>T (p.Ala999=) c.3075C>T (p.Ala1025=) c.2874C>T (p.Ala958=) c.2973C>T (p.Ala991=) c.3303C>T (p.Ala1101=) c.3108C>T (p.Ala1036=) c.3081C>T (p.Ala1027=) c.3060C>T (p.Ala1020=) c.3033C>T (p.Ala1011=) c.3231C>T (p.Ala1077=) c.822C>T (p.Ala274=) c.2676C>T (p.Ala892=) c.786C>T (p.Ala262=) c.3204C>T (p.Ala1068=) c.3057C>T (p.Ala1019=) c.2766C>T (p.Ala922=) c.2916C>T (p.Ala972=) n.106C>T c.295C>T c.3171C>T (p.Ala1057=) c.3291C>T (p.Ala1097=) c.3255C>T (p.Ala1085=) c.3345C>T (p.Ala1115=) c.3309C>T (p.Ala1103=) c.3285C>T (p.Ala1095=) c.3330C>T (p.Ala1110=) c.3270C>T (p.Ala1090=) c.3237C>T (p.Ala1079=) c.3300C>T (p.Ala1100=) c.3156C>T (p.Ala1052=) c.3336C>T (p.Ala1112=) c.3228C>T (p.Ala1076=) c.3192C>T (p.Ala1064=) c.3207C>T (p.Ala1069=) c.3117C>T (p.Ala1039=) c.3045C>T (p.Ala1015=) c.3129C>T (p.Ala1043=) c.2958C>T (p.Ala986=) c.3375C>T (p.Ala1125=) c.3261C>T (p.Ala1087=) c.3243C>T (p.Ala1081=) c.3315C>T (p.Ala1105=) c.2775C>T (p.Ala925=) c.3102C>T (p.Ala1034=) c.3123C>T (p.Ala1041=) | dbSNP gnomAD v4 COSMIC COSMIC |
4 | g.113333088C>A | CA357935956 | ANK2 | c.3400C>A (p.Leu1134Ile) c.3340C>A (p.Leu1114Ile) n.1442C>A n.896C>A n.104C>A n.6522C>A n.4896C>A n.16C>A n.875C>A n.2272C>A n.1639C>A n.985C>A n.1403C>A n.1854C>A c.3259C>A (p.Leu1087Ile) c.3097C>A (p.Leu1033Ile) c.646C>A (p.Leu216Ile) c.3073C>A (p.Leu1025Ile) c.3160C>A (p.Leu1054Ile) c.3295C>A (p.Leu1099Ile) c.3196C>A (p.Leu1066Ile) c.3133C>A (p.Leu1045Ile) c.2998C>A (p.Leu1000Ile) c.3076C>A (p.Leu1026Ile) c.2875C>A (p.Leu959Ile) c.2974C>A (p.Leu992Ile) c.3304C>A (p.Leu1102Ile) c.3109C>A (p.Leu1037Ile) c.3082C>A (p.Leu1028Ile) c.3061C>A (p.Leu1021Ile) c.3034C>A (p.Leu1012Ile) c.3232C>A (p.Leu1078Ile) c.823C>A (p.Leu275Ile) c.2677C>A (p.Leu893Ile) c.787C>A (p.Leu263Ile) c.3205C>A (p.Leu1069Ile) c.3058C>A (p.Leu1020Ile) c.2767C>A (p.Leu923Ile) c.2917C>A (p.Leu973Ile) n.107C>A c.296C>A c.3172C>A (p.Leu1058Ile) c.3292C>A (p.Leu1098Ile) c.3256C>A (p.Leu1086Ile) c.3346C>A (p.Leu1116Ile) c.3310C>A (p.Leu1104Ile) c.3286C>A (p.Leu1096Ile) c.3331C>A (p.Leu1111Ile) c.3271C>A (p.Leu1091Ile) c.3238C>A (p.Leu1080Ile) c.3301C>A (p.Leu1101Ile) c.3157C>A (p.Leu1053Ile) c.3337C>A (p.Leu1113Ile) c.3229C>A (p.Leu1077Ile) c.3193C>A (p.Leu1065Ile) c.3208C>A (p.Leu1070Ile) c.3118C>A (p.Leu1040Ile) c.3046C>A (p.Leu1016Ile) c.3130C>A (p.Leu1044Ile) c.2959C>A (p.Leu987Ile) c.3376C>A (p.Leu1126Ile) c.3262C>A (p.Leu1088Ile) c.3244C>A (p.Leu1082Ile) c.3316C>A (p.Leu1106Ile) c.2776C>A (p.Leu926Ile) c.3103C>A (p.Leu1035Ile) c.3124C>A (p.Leu1042Ile) | dbSNP |
4 | g.113333088C>G | CA357935958 | ANK2 | c.3400C>G (p.Leu1134Val) c.3340C>G (p.Leu1114Val) n.1442C>G n.896C>G n.104C>G n.6522C>G n.4896C>G n.16C>G n.875C>G n.2272C>G n.1639C>G n.985C>G n.1403C>G n.1854C>G c.3259C>G (p.Leu1087Val) c.3097C>G (p.Leu1033Val) c.646C>G (p.Leu216Val) c.3073C>G (p.Leu1025Val) c.3160C>G (p.Leu1054Val) c.3295C>G (p.Leu1099Val) c.3196C>G (p.Leu1066Val) c.3133C>G (p.Leu1045Val) c.2998C>G (p.Leu1000Val) c.3076C>G (p.Leu1026Val) c.2875C>G (p.Leu959Val) c.2974C>G (p.Leu992Val) c.3304C>G (p.Leu1102Val) c.3109C>G (p.Leu1037Val) c.3082C>G (p.Leu1028Val) c.3061C>G (p.Leu1021Val) c.3034C>G (p.Leu1012Val) c.3232C>G (p.Leu1078Val) c.823C>G (p.Leu275Val) c.2677C>G (p.Leu893Val) c.787C>G (p.Leu263Val) c.3205C>G (p.Leu1069Val) c.3058C>G (p.Leu1020Val) c.2767C>G (p.Leu923Val) c.2917C>G (p.Leu973Val) n.107C>G c.296C>G c.3172C>G (p.Leu1058Val) c.3292C>G (p.Leu1098Val) c.3256C>G (p.Leu1086Val) c.3346C>G (p.Leu1116Val) c.3310C>G (p.Leu1104Val) c.3286C>G (p.Leu1096Val) c.3331C>G (p.Leu1111Val) c.3271C>G (p.Leu1091Val) c.3238C>G (p.Leu1080Val) c.3301C>G (p.Leu1101Val) c.3157C>G (p.Leu1053Val) c.3337C>G (p.Leu1113Val) c.3229C>G (p.Leu1077Val) c.3193C>G (p.Leu1065Val) c.3208C>G (p.Leu1070Val) c.3118C>G (p.Leu1040Val) c.3046C>G (p.Leu1016Val) c.3130C>G (p.Leu1044Val) c.2959C>G (p.Leu987Val) c.3376C>G (p.Leu1126Val) c.3262C>G (p.Leu1088Val) c.3244C>G (p.Leu1082Val) c.3316C>G (p.Leu1106Val) c.2776C>G (p.Leu926Val) c.3103C>G (p.Leu1035Val) c.3124C>G (p.Leu1042Val) | dbSNP |
4 | g.113333088C>T | CA357935960 | ANK2 | c.3400C>T (p.Leu1134Phe) c.3340C>T (p.Leu1114Phe) n.1442C>T n.896C>T n.104C>T n.6522C>T n.4896C>T n.16C>T n.875C>T n.2272C>T n.1639C>T n.985C>T n.1403C>T n.1854C>T c.3259C>T (p.Leu1087Phe) c.3097C>T (p.Leu1033Phe) c.646C>T (p.Leu216Phe) c.3073C>T (p.Leu1025Phe) c.3160C>T (p.Leu1054Phe) c.3295C>T (p.Leu1099Phe) c.3196C>T (p.Leu1066Phe) c.3133C>T (p.Leu1045Phe) c.2998C>T (p.Leu1000Phe) c.3076C>T (p.Leu1026Phe) c.2875C>T (p.Leu959Phe) c.2974C>T (p.Leu992Phe) c.3304C>T (p.Leu1102Phe) c.3109C>T (p.Leu1037Phe) c.3082C>T (p.Leu1028Phe) c.3061C>T (p.Leu1021Phe) c.3034C>T (p.Leu1012Phe) c.3232C>T (p.Leu1078Phe) c.823C>T (p.Leu275Phe) c.2677C>T (p.Leu893Phe) c.787C>T (p.Leu263Phe) c.3205C>T (p.Leu1069Phe) c.3058C>T (p.Leu1020Phe) c.2767C>T (p.Leu923Phe) c.2917C>T (p.Leu973Phe) n.107C>T c.296C>T c.3172C>T (p.Leu1058Phe) c.3292C>T (p.Leu1098Phe) c.3256C>T (p.Leu1086Phe) c.3346C>T (p.Leu1116Phe) c.3310C>T (p.Leu1104Phe) c.3286C>T (p.Leu1096Phe) c.3331C>T (p.Leu1111Phe) c.3271C>T (p.Leu1091Phe) c.3238C>T (p.Leu1080Phe) c.3301C>T (p.Leu1101Phe) c.3157C>T (p.Leu1053Phe) c.3337C>T (p.Leu1113Phe) c.3229C>T (p.Leu1077Phe) c.3193C>T (p.Leu1065Phe) c.3208C>T (p.Leu1070Phe) c.3118C>T (p.Leu1040Phe) c.3046C>T (p.Leu1016Phe) c.3130C>T (p.Leu1044Phe) c.2959C>T (p.Leu987Phe) c.3376C>T (p.Leu1126Phe) c.3262C>T (p.Leu1088Phe) c.3244C>T (p.Leu1082Phe) c.3316C>T (p.Leu1106Phe) c.2776C>T (p.Leu926Phe) c.3103C>T (p.Leu1035Phe) c.3124C>T (p.Leu1042Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
4 | g.113333089T>A | CA357935966 | ANK2 | c.3401T>A (p.Leu1134His) c.3341T>A (p.Leu1114His) n.1443T>A n.897T>A n.105T>A n.6523T>A n.4897T>A n.17T>A n.876T>A n.2273T>A n.1640T>A n.986T>A n.1404T>A n.1855T>A c.3260T>A (p.Leu1087His) c.3098T>A (p.Leu1033His) c.647T>A (p.Leu216His) c.3074T>A (p.Leu1025His) c.3161T>A (p.Leu1054His) c.3296T>A (p.Leu1099His) c.3197T>A (p.Leu1066His) c.3134T>A (p.Leu1045His) c.2999T>A (p.Leu1000His) c.3077T>A (p.Leu1026His) c.2876T>A (p.Leu959His) c.2975T>A (p.Leu992His) c.3305T>A (p.Leu1102His) c.3110T>A (p.Leu1037His) c.3083T>A (p.Leu1028His) c.3062T>A (p.Leu1021His) c.3035T>A (p.Leu1012His) c.3233T>A (p.Leu1078His) c.824T>A (p.Leu275His) c.2678T>A (p.Leu893His) c.788T>A (p.Leu263His) c.3206T>A (p.Leu1069His) c.3059T>A (p.Leu1020His) c.2768T>A (p.Leu923His) c.2918T>A (p.Leu973His) n.108T>A c.297T>A c.3173T>A (p.Leu1058His) c.3293T>A (p.Leu1098His) c.3257T>A (p.Leu1086His) c.3347T>A (p.Leu1116His) c.3311T>A (p.Leu1104His) c.3287T>A (p.Leu1096His) c.3332T>A (p.Leu1111His) c.3272T>A (p.Leu1091His) c.3239T>A (p.Leu1080His) c.3302T>A (p.Leu1101His) c.3158T>A (p.Leu1053His) c.3338T>A (p.Leu1113His) c.3230T>A (p.Leu1077His) c.3194T>A (p.Leu1065His) c.3209T>A (p.Leu1070His) c.3119T>A (p.Leu1040His) c.3047T>A (p.Leu1016His) c.3131T>A (p.Leu1044His) c.2960T>A (p.Leu987His) c.3377T>A (p.Leu1126His) c.3263T>A (p.Leu1088His) c.3245T>A (p.Leu1082His) c.3317T>A (p.Leu1106His) c.2777T>A (p.Leu926His) c.3104T>A (p.Leu1035His) c.3125T>A (p.Leu1042His) | dbSNP |
4 | g.113333089T>C | CA357935964 | ANK2 | c.3401T>C (p.Leu1134Pro) c.3341T>C (p.Leu1114Pro) n.1443T>C n.897T>C n.105T>C n.6523T>C n.4897T>C n.17T>C n.876T>C n.2273T>C n.1640T>C n.986T>C n.1404T>C n.1855T>C c.3260T>C (p.Leu1087Pro) c.3098T>C (p.Leu1033Pro) c.647T>C (p.Leu216Pro) c.3074T>C (p.Leu1025Pro) c.3161T>C (p.Leu1054Pro) c.3296T>C (p.Leu1099Pro) c.3197T>C (p.Leu1066Pro) c.3134T>C (p.Leu1045Pro) c.2999T>C (p.Leu1000Pro) c.3077T>C (p.Leu1026Pro) c.2876T>C (p.Leu959Pro) c.2975T>C (p.Leu992Pro) c.3305T>C (p.Leu1102Pro) c.3110T>C (p.Leu1037Pro) c.3083T>C (p.Leu1028Pro) c.3062T>C (p.Leu1021Pro) c.3035T>C (p.Leu1012Pro) c.3233T>C (p.Leu1078Pro) c.824T>C (p.Leu275Pro) c.2678T>C (p.Leu893Pro) c.788T>C (p.Leu263Pro) c.3206T>C (p.Leu1069Pro) c.3059T>C (p.Leu1020Pro) c.2768T>C (p.Leu923Pro) c.2918T>C (p.Leu973Pro) n.108T>C c.297T>C c.3173T>C (p.Leu1058Pro) c.3293T>C (p.Leu1098Pro) c.3257T>C (p.Leu1086Pro) c.3347T>C (p.Leu1116Pro) c.3311T>C (p.Leu1104Pro) c.3287T>C (p.Leu1096Pro) c.3332T>C (p.Leu1111Pro) c.3272T>C (p.Leu1091Pro) c.3239T>C (p.Leu1080Pro) c.3302T>C (p.Leu1101Pro) c.3158T>C (p.Leu1053Pro) c.3338T>C (p.Leu1113Pro) c.3230T>C (p.Leu1077Pro) c.3194T>C (p.Leu1065Pro) c.3209T>C (p.Leu1070Pro) c.3119T>C (p.Leu1040Pro) c.3047T>C (p.Leu1016Pro) c.3131T>C (p.Leu1044Pro) c.2960T>C (p.Leu987Pro) c.3377T>C (p.Leu1126Pro) c.3263T>C (p.Leu1088Pro) c.3245T>C (p.Leu1082Pro) c.3317T>C (p.Leu1106Pro) c.2777T>C (p.Leu926Pro) c.3104T>C (p.Leu1035Pro) c.3125T>C (p.Leu1042Pro) | dbSNP |
4 | g.113333089T>G | CA357935962 | ANK2 | c.3401T>G (p.Leu1134Arg) c.3341T>G (p.Leu1114Arg) n.1443T>G n.897T>G n.105T>G n.6523T>G n.4897T>G n.17T>G n.876T>G n.2273T>G n.1640T>G n.986T>G n.1404T>G n.1855T>G c.3260T>G (p.Leu1087Arg) c.3098T>G (p.Leu1033Arg) c.647T>G (p.Leu216Arg) c.3074T>G (p.Leu1025Arg) c.3161T>G (p.Leu1054Arg) c.3296T>G (p.Leu1099Arg) c.3197T>G (p.Leu1066Arg) c.3134T>G (p.Leu1045Arg) c.2999T>G (p.Leu1000Arg) c.3077T>G (p.Leu1026Arg) c.2876T>G (p.Leu959Arg) c.2975T>G (p.Leu992Arg) c.3305T>G (p.Leu1102Arg) c.3110T>G (p.Leu1037Arg) c.3083T>G (p.Leu1028Arg) c.3062T>G (p.Leu1021Arg) c.3035T>G (p.Leu1012Arg) c.3233T>G (p.Leu1078Arg) c.824T>G (p.Leu275Arg) c.2678T>G (p.Leu893Arg) c.788T>G (p.Leu263Arg) c.3206T>G (p.Leu1069Arg) c.3059T>G (p.Leu1020Arg) c.2768T>G (p.Leu923Arg) c.2918T>G (p.Leu973Arg) n.108T>G c.297T>G c.3173T>G (p.Leu1058Arg) c.3293T>G (p.Leu1098Arg) c.3257T>G (p.Leu1086Arg) c.3347T>G (p.Leu1116Arg) c.3311T>G (p.Leu1104Arg) c.3287T>G (p.Leu1096Arg) c.3332T>G (p.Leu1111Arg) c.3272T>G (p.Leu1091Arg) c.3239T>G (p.Leu1080Arg) c.3302T>G (p.Leu1101Arg) c.3158T>G (p.Leu1053Arg) c.3338T>G (p.Leu1113Arg) c.3230T>G (p.Leu1077Arg) c.3194T>G (p.Leu1065Arg) c.3209T>G (p.Leu1070Arg) c.3119T>G (p.Leu1040Arg) c.3047T>G (p.Leu1016Arg) c.3131T>G (p.Leu1044Arg) c.2960T>G (p.Leu987Arg) c.3377T>G (p.Leu1126Arg) c.3263T>G (p.Leu1088Arg) c.3245T>G (p.Leu1082Arg) c.3317T>G (p.Leu1106Arg) c.2777T>G (p.Leu926Arg) c.3104T>G (p.Leu1035Arg) c.3125T>G (p.Leu1042Arg) | |
4 | g.113333090T>A | CA440842821 | ANK2 | c.3402T>A (p.Leu1134=) c.3342T>A (p.Leu1114=) n.1444T>A n.898T>A n.106T>A n.6524T>A n.4898T>A n.18T>A n.877T>A n.2274T>A n.1641T>A n.987T>A n.1405T>A n.1856T>A c.3261T>A (p.Leu1087=) c.3099T>A (p.Leu1033=) c.648T>A (p.Leu216=) c.3075T>A (p.Leu1025=) c.3162T>A (p.Leu1054=) c.3297T>A (p.Leu1099=) c.3198T>A (p.Leu1066=) c.3135T>A (p.Leu1045=) c.3000T>A (p.Leu1000=) c.3078T>A (p.Leu1026=) c.2877T>A (p.Leu959=) c.2976T>A (p.Leu992=) c.3306T>A (p.Leu1102=) c.3111T>A (p.Leu1037=) c.3084T>A (p.Leu1028=) c.3063T>A (p.Leu1021=) c.3036T>A (p.Leu1012=) c.3234T>A (p.Leu1078=) c.825T>A (p.Leu275=) c.2679T>A (p.Leu893=) c.789T>A (p.Leu263=) c.3207T>A (p.Leu1069=) c.3060T>A (p.Leu1020=) c.2769T>A (p.Leu923=) c.2919T>A (p.Leu973=) n.109T>A c.298T>A c.3174T>A (p.Leu1058=) c.3294T>A (p.Leu1098=) c.3258T>A (p.Leu1086=) c.3348T>A (p.Leu1116=) c.3312T>A (p.Leu1104=) c.3288T>A (p.Leu1096=) c.3333T>A (p.Leu1111=) c.3273T>A (p.Leu1091=) c.3240T>A (p.Leu1080=) c.3303T>A (p.Leu1101=) c.3159T>A (p.Leu1053=) c.3339T>A (p.Leu1113=) c.3231T>A (p.Leu1077=) c.3195T>A (p.Leu1065=) c.3210T>A (p.Leu1070=) c.3120T>A (p.Leu1040=) c.3048T>A (p.Leu1016=) c.3132T>A (p.Leu1044=) c.2961T>A (p.Leu987=) c.3378T>A (p.Leu1126=) c.3264T>A (p.Leu1088=) c.3246T>A (p.Leu1082=) c.3318T>A (p.Leu1106=) c.2778T>A (p.Leu926=) c.3105T>A (p.Leu1035=) c.3126T>A (p.Leu1042=) | dbSNP |
4 | g.113333090T>C | CA440842822 | ANK2 | c.3402T>C (p.Leu1134=) c.3342T>C (p.Leu1114=) n.1444T>C n.898T>C n.106T>C n.6524T>C n.4898T>C n.18T>C n.877T>C n.2274T>C n.1641T>C n.987T>C n.1405T>C n.1856T>C c.3261T>C (p.Leu1087=) c.3099T>C (p.Leu1033=) c.648T>C (p.Leu216=) c.3075T>C (p.Leu1025=) c.3162T>C (p.Leu1054=) c.3297T>C (p.Leu1099=) c.3198T>C (p.Leu1066=) c.3135T>C (p.Leu1045=) c.3000T>C (p.Leu1000=) c.3078T>C (p.Leu1026=) c.2877T>C (p.Leu959=) c.2976T>C (p.Leu992=) c.3306T>C (p.Leu1102=) c.3111T>C (p.Leu1037=) c.3084T>C (p.Leu1028=) c.3063T>C (p.Leu1021=) c.3036T>C (p.Leu1012=) c.3234T>C (p.Leu1078=) c.825T>C (p.Leu275=) c.2679T>C (p.Leu893=) c.789T>C (p.Leu263=) c.3207T>C (p.Leu1069=) c.3060T>C (p.Leu1020=) c.2769T>C (p.Leu923=) c.2919T>C (p.Leu973=) n.109T>C c.298T>C c.3174T>C (p.Leu1058=) c.3294T>C (p.Leu1098=) c.3258T>C (p.Leu1086=) c.3348T>C (p.Leu1116=) c.3312T>C (p.Leu1104=) c.3288T>C (p.Leu1096=) c.3333T>C (p.Leu1111=) c.3273T>C (p.Leu1091=) c.3240T>C (p.Leu1080=) c.3303T>C (p.Leu1101=) c.3159T>C (p.Leu1053=) c.3339T>C (p.Leu1113=) c.3231T>C (p.Leu1077=) c.3195T>C (p.Leu1065=) c.3210T>C (p.Leu1070=) c.3120T>C (p.Leu1040=) c.3048T>C (p.Leu1016=) c.3132T>C (p.Leu1044=) c.2961T>C (p.Leu987=) c.3378T>C (p.Leu1126=) c.3264T>C (p.Leu1088=) c.3246T>C (p.Leu1082=) c.3318T>C (p.Leu1106=) c.2778T>C (p.Leu926=) c.3105T>C (p.Leu1035=) c.3126T>C (p.Leu1042=) | |
4 | g.113333090T>G | CA440842823 | ANK2 | c.3402T>G (p.Leu1134=) c.3342T>G (p.Leu1114=) n.1444T>G n.898T>G n.106T>G n.6524T>G n.4898T>G n.18T>G n.877T>G n.2274T>G n.1641T>G n.987T>G n.1405T>G n.1856T>G c.3261T>G (p.Leu1087=) c.3099T>G (p.Leu1033=) c.648T>G (p.Leu216=) c.3075T>G (p.Leu1025=) c.3162T>G (p.Leu1054=) c.3297T>G (p.Leu1099=) c.3198T>G (p.Leu1066=) c.3135T>G (p.Leu1045=) c.3000T>G (p.Leu1000=) c.3078T>G (p.Leu1026=) c.2877T>G (p.Leu959=) c.2976T>G (p.Leu992=) c.3306T>G (p.Leu1102=) c.3111T>G (p.Leu1037=) c.3084T>G (p.Leu1028=) c.3063T>G (p.Leu1021=) c.3036T>G (p.Leu1012=) c.3234T>G (p.Leu1078=) c.825T>G (p.Leu275=) c.2679T>G (p.Leu893=) c.789T>G (p.Leu263=) c.3207T>G (p.Leu1069=) c.3060T>G (p.Leu1020=) c.2769T>G (p.Leu923=) c.2919T>G (p.Leu973=) n.109T>G c.298T>G c.3174T>G (p.Leu1058=) c.3294T>G (p.Leu1098=) c.3258T>G (p.Leu1086=) c.3348T>G (p.Leu1116=) c.3312T>G (p.Leu1104=) c.3288T>G (p.Leu1096=) c.3333T>G (p.Leu1111=) c.3273T>G (p.Leu1091=) c.3240T>G (p.Leu1080=) c.3303T>G (p.Leu1101=) c.3159T>G (p.Leu1053=) c.3339T>G (p.Leu1113=) c.3231T>G (p.Leu1077=) c.3195T>G (p.Leu1065=) c.3210T>G (p.Leu1070=) c.3120T>G (p.Leu1040=) c.3048T>G (p.Leu1016=) c.3132T>G (p.Leu1044=) c.2961T>G (p.Leu987=) c.3378T>G (p.Leu1126=) c.3264T>G (p.Leu1088=) c.3246T>G (p.Leu1082=) c.3318T>G (p.Leu1106=) c.2778T>G (p.Leu926=) c.3105T>G (p.Leu1035=) c.3126T>G (p.Leu1042=) | |
4 | g.113333091C>A | CA440842824 | ANK2 | c.3403C>A (p.Arg1135=) c.3343C>A (p.Arg1115=) n.1445C>A n.899C>A n.107C>A n.6525C>A n.4899C>A n.19C>A n.878C>A n.2275C>A n.1642C>A n.988C>A n.1406C>A n.1857C>A c.3262C>A (p.Arg1088=) c.3100C>A (p.Arg1034=) c.649C>A (p.Arg217=) c.3076C>A (p.Arg1026=) c.3163C>A (p.Arg1055=) c.3298C>A (p.Arg1100=) c.3199C>A (p.Arg1067=) c.3136C>A (p.Arg1046=) c.3001C>A (p.Arg1001=) c.3079C>A (p.Arg1027=) c.2878C>A (p.Arg960=) c.2977C>A (p.Arg993=) c.3307C>A (p.Arg1103=) c.3112C>A (p.Arg1038=) c.3085C>A (p.Arg1029=) c.3064C>A (p.Arg1022=) c.3037C>A (p.Arg1013=) c.3235C>A (p.Arg1079=) c.826C>A (p.Arg276=) c.2680C>A (p.Arg894=) c.790C>A (p.Arg264=) c.3208C>A (p.Arg1070=) c.3061C>A (p.Arg1021=) c.2770C>A (p.Arg924=) c.2920C>A (p.Arg974=) n.110C>A c.299C>A c.3175C>A (p.Arg1059=) c.3295C>A (p.Arg1099=) c.3259C>A (p.Arg1087=) c.3349C>A (p.Arg1117=) c.3313C>A (p.Arg1105=) c.3289C>A (p.Arg1097=) c.3334C>A (p.Arg1112=) c.3274C>A (p.Arg1092=) c.3241C>A (p.Arg1081=) c.3304C>A (p.Arg1102=) c.3160C>A (p.Arg1054=) c.3340C>A (p.Arg1114=) c.3232C>A (p.Arg1078=) c.3196C>A (p.Arg1066=) c.3211C>A (p.Arg1071=) c.3121C>A (p.Arg1041=) c.3049C>A (p.Arg1017=) c.3133C>A (p.Arg1045=) c.2962C>A (p.Arg988=) c.3379C>A (p.Arg1127=) c.3265C>A (p.Arg1089=) c.3247C>A (p.Arg1083=) c.3319C>A (p.Arg1107=) c.2779C>A (p.Arg927=) c.3106C>A (p.Arg1036=) c.3127C>A (p.Arg1043=) | dbSNP |
4 | g.113333091C>G | CA357935968 | ANK2 | c.3403C>G (p.Arg1135Gly) c.3343C>G (p.Arg1115Gly) n.1445C>G n.899C>G n.107C>G n.6525C>G n.4899C>G n.19C>G n.878C>G n.2275C>G n.1642C>G n.988C>G n.1406C>G n.1857C>G c.3262C>G (p.Arg1088Gly) c.3100C>G (p.Arg1034Gly) c.649C>G (p.Arg217Gly) c.3076C>G (p.Arg1026Gly) c.3163C>G (p.Arg1055Gly) c.3298C>G (p.Arg1100Gly) c.3199C>G (p.Arg1067Gly) c.3136C>G (p.Arg1046Gly) c.3001C>G (p.Arg1001Gly) c.3079C>G (p.Arg1027Gly) c.2878C>G (p.Arg960Gly) c.2977C>G (p.Arg993Gly) c.3307C>G (p.Arg1103Gly) c.3112C>G (p.Arg1038Gly) c.3085C>G (p.Arg1029Gly) c.3064C>G (p.Arg1022Gly) c.3037C>G (p.Arg1013Gly) c.3235C>G (p.Arg1079Gly) c.826C>G (p.Arg276Gly) c.2680C>G (p.Arg894Gly) c.790C>G (p.Arg264Gly) c.3208C>G (p.Arg1070Gly) c.3061C>G (p.Arg1021Gly) c.2770C>G (p.Arg924Gly) c.2920C>G (p.Arg974Gly) n.110C>G c.299C>G c.3175C>G (p.Arg1059Gly) c.3295C>G (p.Arg1099Gly) c.3259C>G (p.Arg1087Gly) c.3349C>G (p.Arg1117Gly) c.3313C>G (p.Arg1105Gly) c.3289C>G (p.Arg1097Gly) c.3334C>G (p.Arg1112Gly) c.3274C>G (p.Arg1092Gly) c.3241C>G (p.Arg1081Gly) c.3304C>G (p.Arg1102Gly) c.3160C>G (p.Arg1054Gly) c.3340C>G (p.Arg1114Gly) c.3232C>G (p.Arg1078Gly) c.3196C>G (p.Arg1066Gly) c.3211C>G (p.Arg1071Gly) c.3121C>G (p.Arg1041Gly) c.3049C>G (p.Arg1017Gly) c.3133C>G (p.Arg1045Gly) c.2962C>G (p.Arg988Gly) c.3379C>G (p.Arg1127Gly) c.3265C>G (p.Arg1089Gly) c.3247C>G (p.Arg1083Gly) c.3319C>G (p.Arg1107Gly) c.2779C>G (p.Arg927Gly) c.3106C>G (p.Arg1036Gly) c.3127C>G (p.Arg1043Gly) | dbSNP gnomAD v4 |
4 | g.113333091C>T | CA357935970 | ANK2 | c.3403C>T (p.Arg1135Ter) c.3343C>T (p.Arg1115Ter) n.1445C>T n.899C>T n.107C>T n.6525C>T n.4899C>T n.19C>T n.878C>T n.2275C>T n.1642C>T n.988C>T n.1406C>T n.1857C>T c.3262C>T (p.Arg1088Ter) c.3100C>T (p.Arg1034Ter) c.649C>T (p.Arg217Ter) c.3076C>T (p.Arg1026Ter) c.3163C>T (p.Arg1055Ter) c.3298C>T (p.Arg1100Ter) c.3199C>T (p.Arg1067Ter) c.3136C>T (p.Arg1046Ter) c.3001C>T (p.Arg1001Ter) c.3079C>T (p.Arg1027Ter) c.2878C>T (p.Arg960Ter) c.2977C>T (p.Arg993Ter) c.3307C>T (p.Arg1103Ter) c.3112C>T (p.Arg1038Ter) c.3085C>T (p.Arg1029Ter) c.3064C>T (p.Arg1022Ter) c.3037C>T (p.Arg1013Ter) c.3235C>T (p.Arg1079Ter) c.826C>T (p.Arg276Ter) c.2680C>T (p.Arg894Ter) c.790C>T (p.Arg264Ter) c.3208C>T (p.Arg1070Ter) c.3061C>T (p.Arg1021Ter) c.2770C>T (p.Arg924Ter) c.2920C>T (p.Arg974Ter) n.110C>T c.299C>T c.3175C>T (p.Arg1059Ter) c.3295C>T (p.Arg1099Ter) c.3259C>T (p.Arg1087Ter) c.3349C>T (p.Arg1117Ter) c.3313C>T (p.Arg1105Ter) c.3289C>T (p.Arg1097Ter) c.3334C>T (p.Arg1112Ter) c.3274C>T (p.Arg1092Ter) c.3241C>T (p.Arg1081Ter) c.3304C>T (p.Arg1102Ter) c.3160C>T (p.Arg1054Ter) c.3340C>T (p.Arg1114Ter) c.3232C>T (p.Arg1078Ter) c.3196C>T (p.Arg1066Ter) c.3211C>T (p.Arg1071Ter) c.3121C>T (p.Arg1041Ter) c.3049C>T (p.Arg1017Ter) c.3133C>T (p.Arg1045Ter) c.2962C>T (p.Arg988Ter) c.3379C>T (p.Arg1127Ter) c.3265C>T (p.Arg1089Ter) c.3247C>T (p.Arg1083Ter) c.3319C>T (p.Arg1107Ter) c.2779C>T (p.Arg927Ter) c.3106C>T (p.Arg1036Ter) c.3127C>T (p.Arg1043Ter) | ClinVar dbSNP gnomAD v4 |
4 | g.113333092G>A | CA357935972 | ANK2 | c.3404G>A (p.Arg1135Gln) c.3344G>A (p.Arg1115Gln) n.1446G>A n.900G>A n.108G>A n.6526G>A n.4900G>A n.20G>A n.879G>A n.2276G>A n.1643G>A n.989G>A n.1407G>A n.1858G>A c.3263G>A (p.Arg1088Gln) c.3101G>A (p.Arg1034Gln) c.650G>A (p.Arg217Gln) c.3077G>A (p.Arg1026Gln) c.3164G>A (p.Arg1055Gln) c.3299G>A (p.Arg1100Gln) c.3200G>A (p.Arg1067Gln) c.3137G>A (p.Arg1046Gln) c.3002G>A (p.Arg1001Gln) c.3080G>A (p.Arg1027Gln) c.2879G>A (p.Arg960Gln) c.2978G>A (p.Arg993Gln) c.3308G>A (p.Arg1103Gln) c.3113G>A (p.Arg1038Gln) c.3086G>A (p.Arg1029Gln) c.3065G>A (p.Arg1022Gln) c.3038G>A (p.Arg1013Gln) c.3236G>A (p.Arg1079Gln) c.827G>A (p.Arg276Gln) c.2681G>A (p.Arg894Gln) c.791G>A (p.Arg264Gln) c.3209G>A (p.Arg1070Gln) c.3062G>A (p.Arg1021Gln) c.2771G>A (p.Arg924Gln) c.2921G>A (p.Arg974Gln) n.111G>A c.300G>A c.3176G>A (p.Arg1059Gln) c.3296G>A (p.Arg1099Gln) c.3260G>A (p.Arg1087Gln) c.3350G>A (p.Arg1117Gln) c.3314G>A (p.Arg1105Gln) c.3290G>A (p.Arg1097Gln) c.3335G>A (p.Arg1112Gln) c.3275G>A (p.Arg1092Gln) c.3242G>A (p.Arg1081Gln) c.3305G>A (p.Arg1102Gln) c.3161G>A (p.Arg1054Gln) c.3341G>A (p.Arg1114Gln) c.3233G>A (p.Arg1078Gln) c.3197G>A (p.Arg1066Gln) c.3212G>A (p.Arg1071Gln) c.3122G>A (p.Arg1041Gln) c.3050G>A (p.Arg1017Gln) c.3134G>A (p.Arg1045Gln) c.2963G>A (p.Arg988Gln) c.3380G>A (p.Arg1127Gln) c.3266G>A (p.Arg1089Gln) c.3248G>A (p.Arg1083Gln) c.3320G>A (p.Arg1107Gln) c.2780G>A (p.Arg927Gln) c.3107G>A (p.Arg1036Gln) c.3128G>A (p.Arg1043Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
4 | g.113333092G>C | CA357935975 | ANK2 | c.3404G>C (p.Arg1135Pro) c.3344G>C (p.Arg1115Pro) n.1446G>C n.900G>C n.108G>C n.6526G>C n.4900G>C n.20G>C n.879G>C n.2276G>C n.1643G>C n.989G>C n.1407G>C n.1858G>C c.3263G>C (p.Arg1088Pro) c.3101G>C (p.Arg1034Pro) c.650G>C (p.Arg217Pro) c.3077G>C (p.Arg1026Pro) c.3164G>C (p.Arg1055Pro) c.3299G>C (p.Arg1100Pro) c.3200G>C (p.Arg1067Pro) c.3137G>C (p.Arg1046Pro) c.3002G>C (p.Arg1001Pro) c.3080G>C (p.Arg1027Pro) c.2879G>C (p.Arg960Pro) c.2978G>C (p.Arg993Pro) c.3308G>C (p.Arg1103Pro) c.3113G>C (p.Arg1038Pro) c.3086G>C (p.Arg1029Pro) c.3065G>C (p.Arg1022Pro) c.3038G>C (p.Arg1013Pro) c.3236G>C (p.Arg1079Pro) c.827G>C (p.Arg276Pro) c.2681G>C (p.Arg894Pro) c.791G>C (p.Arg264Pro) c.3209G>C (p.Arg1070Pro) c.3062G>C (p.Arg1021Pro) c.2771G>C (p.Arg924Pro) c.2921G>C (p.Arg974Pro) n.111G>C c.300G>C c.3176G>C (p.Arg1059Pro) c.3296G>C (p.Arg1099Pro) c.3260G>C (p.Arg1087Pro) c.3350G>C (p.Arg1117Pro) c.3314G>C (p.Arg1105Pro) c.3290G>C (p.Arg1097Pro) c.3335G>C (p.Arg1112Pro) c.3275G>C (p.Arg1092Pro) c.3242G>C (p.Arg1081Pro) c.3305G>C (p.Arg1102Pro) c.3161G>C (p.Arg1054Pro) c.3341G>C (p.Arg1114Pro) c.3233G>C (p.Arg1078Pro) c.3197G>C (p.Arg1066Pro) c.3212G>C (p.Arg1071Pro) c.3122G>C (p.Arg1041Pro) c.3050G>C (p.Arg1017Pro) c.3134G>C (p.Arg1045Pro) c.2963G>C (p.Arg988Pro) c.3380G>C (p.Arg1127Pro) c.3266G>C (p.Arg1089Pro) c.3248G>C (p.Arg1083Pro) c.3320G>C (p.Arg1107Pro) c.2780G>C (p.Arg927Pro) c.3107G>C (p.Arg1036Pro) c.3128G>C (p.Arg1043Pro) | |
4 | g.113333092G>T | CA357935977 | ANK2 | c.3404G>T (p.Arg1135Leu) c.3344G>T (p.Arg1115Leu) n.1446G>T n.900G>T n.108G>T n.6526G>T n.4900G>T n.20G>T n.879G>T n.2276G>T n.1643G>T n.989G>T n.1407G>T n.1858G>T c.3263G>T (p.Arg1088Leu) c.3101G>T (p.Arg1034Leu) c.650G>T (p.Arg217Leu) c.3077G>T (p.Arg1026Leu) c.3164G>T (p.Arg1055Leu) c.3299G>T (p.Arg1100Leu) c.3200G>T (p.Arg1067Leu) c.3137G>T (p.Arg1046Leu) c.3002G>T (p.Arg1001Leu) c.3080G>T (p.Arg1027Leu) c.2879G>T (p.Arg960Leu) c.2978G>T (p.Arg993Leu) c.3308G>T (p.Arg1103Leu) c.3113G>T (p.Arg1038Leu) c.3086G>T (p.Arg1029Leu) c.3065G>T (p.Arg1022Leu) c.3038G>T (p.Arg1013Leu) c.3236G>T (p.Arg1079Leu) c.827G>T (p.Arg276Leu) c.2681G>T (p.Arg894Leu) c.791G>T (p.Arg264Leu) c.3209G>T (p.Arg1070Leu) c.3062G>T (p.Arg1021Leu) c.2771G>T (p.Arg924Leu) c.2921G>T (p.Arg974Leu) n.111G>T c.300G>T c.3176G>T (p.Arg1059Leu) c.3296G>T (p.Arg1099Leu) c.3260G>T (p.Arg1087Leu) c.3350G>T (p.Arg1117Leu) c.3314G>T (p.Arg1105Leu) c.3290G>T (p.Arg1097Leu) c.3335G>T (p.Arg1112Leu) c.3275G>T (p.Arg1092Leu) c.3242G>T (p.Arg1081Leu) c.3305G>T (p.Arg1102Leu) c.3161G>T (p.Arg1054Leu) c.3341G>T (p.Arg1114Leu) c.3233G>T (p.Arg1078Leu) c.3197G>T (p.Arg1066Leu) c.3212G>T (p.Arg1071Leu) c.3122G>T (p.Arg1041Leu) c.3050G>T (p.Arg1017Leu) c.3134G>T (p.Arg1045Leu) c.2963G>T (p.Arg988Leu) c.3380G>T (p.Arg1127Leu) c.3266G>T (p.Arg1089Leu) c.3248G>T (p.Arg1083Leu) c.3320G>T (p.Arg1107Leu) c.2780G>T (p.Arg927Leu) c.3107G>T (p.Arg1036Leu) c.3128G>T (p.Arg1043Leu) | |
4 | g.113333093A>C | CA440842826 | ANK2 | c.3405A>C (p.Arg1135=) c.3345A>C (p.Arg1115=) n.1447A>C n.901A>C n.109A>C n.6527A>C n.4901A>C n.21A>C n.880A>C n.2277A>C n.1644A>C n.990A>C n.1408A>C n.1859A>C c.3264A>C (p.Arg1088=) c.3102A>C (p.Arg1034=) c.651A>C (p.Arg217=) c.3078A>C (p.Arg1026=) c.3165A>C (p.Arg1055=) c.3300A>C (p.Arg1100=) c.3201A>C (p.Arg1067=) c.3138A>C (p.Arg1046=) c.3003A>C (p.Arg1001=) c.3081A>C (p.Arg1027=) c.2880A>C (p.Arg960=) c.2979A>C (p.Arg993=) c.3309A>C (p.Arg1103=) c.3114A>C (p.Arg1038=) c.3087A>C (p.Arg1029=) c.3066A>C (p.Arg1022=) c.3039A>C (p.Arg1013=) c.3237A>C (p.Arg1079=) c.828A>C (p.Arg276=) c.2682A>C (p.Arg894=) c.792A>C (p.Arg264=) c.3210A>C (p.Arg1070=) c.3063A>C (p.Arg1021=) c.2772A>C (p.Arg924=) c.2922A>C (p.Arg974=) n.112A>C c.301A>C c.3177A>C (p.Arg1059=) c.3297A>C (p.Arg1099=) c.3261A>C (p.Arg1087=) c.3351A>C (p.Arg1117=) c.3315A>C (p.Arg1105=) c.3291A>C (p.Arg1097=) c.3336A>C (p.Arg1112=) c.3276A>C (p.Arg1092=) c.3243A>C (p.Arg1081=) c.3306A>C (p.Arg1102=) c.3162A>C (p.Arg1054=) c.3342A>C (p.Arg1114=) c.3234A>C (p.Arg1078=) c.3198A>C (p.Arg1066=) c.3213A>C (p.Arg1071=) c.3123A>C (p.Arg1041=) c.3051A>C (p.Arg1017=) c.3135A>C (p.Arg1045=) c.2964A>C (p.Arg988=) c.3381A>C (p.Arg1127=) c.3267A>C (p.Arg1089=) c.3249A>C (p.Arg1083=) c.3321A>C (p.Arg1107=) c.2781A>C (p.Arg927=) c.3108A>C (p.Arg1036=) c.3129A>C (p.Arg1043=) | |
4 | g.113333093A>G | CA440842827 | ANK2 | c.3405A>G (p.Arg1135=) c.3345A>G (p.Arg1115=) n.1447A>G n.901A>G n.109A>G n.6527A>G n.4901A>G n.21A>G n.880A>G n.2277A>G n.1644A>G n.990A>G n.1408A>G n.1859A>G c.3264A>G (p.Arg1088=) c.3102A>G (p.Arg1034=) c.651A>G (p.Arg217=) c.3078A>G (p.Arg1026=) c.3165A>G (p.Arg1055=) c.3300A>G (p.Arg1100=) c.3201A>G (p.Arg1067=) c.3138A>G (p.Arg1046=) c.3003A>G (p.Arg1001=) c.3081A>G (p.Arg1027=) c.2880A>G (p.Arg960=) c.2979A>G (p.Arg993=) c.3309A>G (p.Arg1103=) c.3114A>G (p.Arg1038=) c.3087A>G (p.Arg1029=) c.3066A>G (p.Arg1022=) c.3039A>G (p.Arg1013=) c.3237A>G (p.Arg1079=) c.828A>G (p.Arg276=) c.2682A>G (p.Arg894=) c.792A>G (p.Arg264=) c.3210A>G (p.Arg1070=) c.3063A>G (p.Arg1021=) c.2772A>G (p.Arg924=) c.2922A>G (p.Arg974=) n.112A>G c.301A>G c.3177A>G (p.Arg1059=) c.3297A>G (p.Arg1099=) c.3261A>G (p.Arg1087=) c.3351A>G (p.Arg1117=) c.3315A>G (p.Arg1105=) c.3291A>G (p.Arg1097=) c.3336A>G (p.Arg1112=) c.3276A>G (p.Arg1092=) c.3243A>G (p.Arg1081=) c.3306A>G (p.Arg1102=) c.3162A>G (p.Arg1054=) c.3342A>G (p.Arg1114=) c.3234A>G (p.Arg1078=) c.3198A>G (p.Arg1066=) c.3213A>G (p.Arg1071=) c.3123A>G (p.Arg1041=) c.3051A>G (p.Arg1017=) c.3135A>G (p.Arg1045=) c.2964A>G (p.Arg988=) c.3381A>G (p.Arg1127=) c.3267A>G (p.Arg1089=) c.3249A>G (p.Arg1083=) c.3321A>G (p.Arg1107=) c.2781A>G (p.Arg927=) c.3108A>G (p.Arg1036=) c.3129A>G (p.Arg1043=) | |
4 | g.113333093A>T | CA440842828 | ANK2 | c.3405A>T (p.Arg1135=) c.3345A>T (p.Arg1115=) n.1447A>T n.901A>T n.109A>T n.6527A>T n.4901A>T n.21A>T n.880A>T n.2277A>T n.1644A>T n.990A>T n.1408A>T n.1859A>T c.3264A>T (p.Arg1088=) c.3102A>T (p.Arg1034=) c.651A>T (p.Arg217=) c.3078A>T (p.Arg1026=) c.3165A>T (p.Arg1055=) c.3300A>T (p.Arg1100=) c.3201A>T (p.Arg1067=) c.3138A>T (p.Arg1046=) c.3003A>T (p.Arg1001=) c.3081A>T (p.Arg1027=) c.2880A>T (p.Arg960=) c.2979A>T (p.Arg993=) c.3309A>T (p.Arg1103=) c.3114A>T (p.Arg1038=) c.3087A>T (p.Arg1029=) c.3066A>T (p.Arg1022=) c.3039A>T (p.Arg1013=) c.3237A>T (p.Arg1079=) c.828A>T (p.Arg276=) c.2682A>T (p.Arg894=) c.792A>T (p.Arg264=) c.3210A>T (p.Arg1070=) c.3063A>T (p.Arg1021=) c.2772A>T (p.Arg924=) c.2922A>T (p.Arg974=) n.112A>T c.301A>T c.3177A>T (p.Arg1059=) c.3297A>T (p.Arg1099=) c.3261A>T (p.Arg1087=) c.3351A>T (p.Arg1117=) c.3315A>T (p.Arg1105=) c.3291A>T (p.Arg1097=) c.3336A>T (p.Arg1112=) c.3276A>T (p.Arg1092=) c.3243A>T (p.Arg1081=) c.3306A>T (p.Arg1102=) c.3162A>T (p.Arg1054=) c.3342A>T (p.Arg1114=) c.3234A>T (p.Arg1078=) c.3198A>T (p.Arg1066=) c.3213A>T (p.Arg1071=) c.3123A>T (p.Arg1041=) c.3051A>T (p.Arg1017=) c.3135A>T (p.Arg1045=) c.2964A>T (p.Arg988=) c.3381A>T (p.Arg1127=) c.3267A>T (p.Arg1089=) c.3249A>T (p.Arg1083=) c.3321A>T (p.Arg1107=) c.2781A>T (p.Arg927=) c.3108A>T (p.Arg1036=) c.3129A>T (p.Arg1043=) | dbSNP |
4 | g.113333094G>A | CA357935980 | ANK2 | c.3406G>A (p.Gly1136Arg) c.3346G>A (p.Gly1116Arg) n.1448G>A n.902G>A n.110G>A n.6528G>A n.4902G>A n.22G>A n.881G>A n.2278G>A n.1645G>A n.991G>A n.1409G>A n.1860G>A c.3265G>A (p.Gly1089Arg) c.3103G>A (p.Gly1035Arg) c.652G>A (p.Gly218Arg) c.3079G>A (p.Gly1027Arg) c.3166G>A (p.Gly1056Arg) c.3301G>A (p.Gly1101Arg) c.3202G>A (p.Gly1068Arg) c.3139G>A (p.Gly1047Arg) c.3004G>A (p.Gly1002Arg) c.3082G>A (p.Gly1028Arg) c.2881G>A (p.Gly961Arg) c.2980G>A (p.Gly994Arg) c.3310G>A (p.Gly1104Arg) c.3115G>A (p.Gly1039Arg) c.3088G>A (p.Gly1030Arg) c.3067G>A (p.Gly1023Arg) c.3040G>A (p.Gly1014Arg) c.3238G>A (p.Gly1080Arg) c.829G>A (p.Gly277Arg) c.2683G>A (p.Gly895Arg) c.793G>A (p.Gly265Arg) c.3211G>A (p.Gly1071Arg) c.3064G>A (p.Gly1022Arg) c.2773G>A (p.Gly925Arg) c.2923G>A (p.Gly975Arg) n.113G>A c.302G>A c.3178G>A (p.Gly1060Arg) c.3298G>A (p.Gly1100Arg) c.3262G>A (p.Gly1088Arg) c.3352G>A (p.Gly1118Arg) c.3316G>A (p.Gly1106Arg) c.3292G>A (p.Gly1098Arg) c.3337G>A (p.Gly1113Arg) c.3277G>A (p.Gly1093Arg) c.3244G>A (p.Gly1082Arg) c.3307G>A (p.Gly1103Arg) c.3163G>A (p.Gly1055Arg) c.3343G>A (p.Gly1115Arg) c.3235G>A (p.Gly1079Arg) c.3199G>A (p.Gly1067Arg) c.3214G>A (p.Gly1072Arg) c.3124G>A (p.Gly1042Arg) c.3052G>A (p.Gly1018Arg) c.3136G>A (p.Gly1046Arg) c.2965G>A (p.Gly989Arg) c.3382G>A (p.Gly1128Arg) c.3268G>A (p.Gly1090Arg) c.3250G>A (p.Gly1084Arg) c.3322G>A (p.Gly1108Arg) c.2782G>A (p.Gly928Arg) c.3109G>A (p.Gly1037Arg) c.3130G>A (p.Gly1044Arg) | dbSNP gnomAD v4 |
4 | g.113333094G>C | CA357935981 | ANK2 | c.3406G>C (p.Gly1136Arg) c.3346G>C (p.Gly1116Arg) n.1448G>C n.902G>C n.110G>C n.6528G>C n.4902G>C n.22G>C n.881G>C n.2278G>C n.1645G>C n.991G>C n.1409G>C n.1860G>C c.3265G>C (p.Gly1089Arg) c.3103G>C (p.Gly1035Arg) c.652G>C (p.Gly218Arg) c.3079G>C (p.Gly1027Arg) c.3166G>C (p.Gly1056Arg) c.3301G>C (p.Gly1101Arg) c.3202G>C (p.Gly1068Arg) c.3139G>C (p.Gly1047Arg) c.3004G>C (p.Gly1002Arg) c.3082G>C (p.Gly1028Arg) c.2881G>C (p.Gly961Arg) c.2980G>C (p.Gly994Arg) c.3310G>C (p.Gly1104Arg) c.3115G>C (p.Gly1039Arg) c.3088G>C (p.Gly1030Arg) c.3067G>C (p.Gly1023Arg) c.3040G>C (p.Gly1014Arg) c.3238G>C (p.Gly1080Arg) c.829G>C (p.Gly277Arg) c.2683G>C (p.Gly895Arg) c.793G>C (p.Gly265Arg) c.3211G>C (p.Gly1071Arg) c.3064G>C (p.Gly1022Arg) c.2773G>C (p.Gly925Arg) c.2923G>C (p.Gly975Arg) n.113G>C c.302G>C c.3178G>C (p.Gly1060Arg) c.3298G>C (p.Gly1100Arg) c.3262G>C (p.Gly1088Arg) c.3352G>C (p.Gly1118Arg) c.3316G>C (p.Gly1106Arg) c.3292G>C (p.Gly1098Arg) c.3337G>C (p.Gly1113Arg) c.3277G>C (p.Gly1093Arg) c.3244G>C (p.Gly1082Arg) c.3307G>C (p.Gly1103Arg) c.3163G>C (p.Gly1055Arg) c.3343G>C (p.Gly1115Arg) c.3235G>C (p.Gly1079Arg) c.3199G>C (p.Gly1067Arg) c.3214G>C (p.Gly1072Arg) c.3124G>C (p.Gly1042Arg) c.3052G>C (p.Gly1018Arg) c.3136G>C (p.Gly1046Arg) c.2965G>C (p.Gly989Arg) c.3382G>C (p.Gly1128Arg) c.3268G>C (p.Gly1090Arg) c.3250G>C (p.Gly1084Arg) c.3322G>C (p.Gly1108Arg) c.2782G>C (p.Gly928Arg) c.3109G>C (p.Gly1037Arg) c.3130G>C (p.Gly1044Arg) | dbSNP |
4 | g.113333094G>T | CA357935983 | ANK2 | c.3406G>T (p.Gly1136Ter) c.3346G>T (p.Gly1116Ter) n.1448G>T n.902G>T n.110G>T n.6528G>T n.4902G>T n.22G>T n.881G>T n.2278G>T n.1645G>T n.991G>T n.1409G>T n.1860G>T c.3265G>T (p.Gly1089Ter) c.3103G>T (p.Gly1035Ter) c.652G>T (p.Gly218Ter) c.3079G>T (p.Gly1027Ter) c.3166G>T (p.Gly1056Ter) c.3301G>T (p.Gly1101Ter) c.3202G>T (p.Gly1068Ter) c.3139G>T (p.Gly1047Ter) c.3004G>T (p.Gly1002Ter) c.3082G>T (p.Gly1028Ter) c.2881G>T (p.Gly961Ter) c.2980G>T (p.Gly994Ter) c.3310G>T (p.Gly1104Ter) c.3115G>T (p.Gly1039Ter) c.3088G>T (p.Gly1030Ter) c.3067G>T (p.Gly1023Ter) c.3040G>T (p.Gly1014Ter) c.3238G>T (p.Gly1080Ter) c.829G>T (p.Gly277Ter) c.2683G>T (p.Gly895Ter) c.793G>T (p.Gly265Ter) c.3211G>T (p.Gly1071Ter) c.3064G>T (p.Gly1022Ter) c.2773G>T (p.Gly925Ter) c.2923G>T (p.Gly975Ter) n.113G>T c.302G>T c.3178G>T (p.Gly1060Ter) c.3298G>T (p.Gly1100Ter) c.3262G>T (p.Gly1088Ter) c.3352G>T (p.Gly1118Ter) c.3316G>T (p.Gly1106Ter) c.3292G>T (p.Gly1098Ter) c.3337G>T (p.Gly1113Ter) c.3277G>T (p.Gly1093Ter) c.3244G>T (p.Gly1082Ter) c.3307G>T (p.Gly1103Ter) c.3163G>T (p.Gly1055Ter) c.3343G>T (p.Gly1115Ter) c.3235G>T (p.Gly1079Ter) c.3199G>T (p.Gly1067Ter) c.3214G>T (p.Gly1072Ter) c.3124G>T (p.Gly1042Ter) c.3052G>T (p.Gly1018Ter) c.3136G>T (p.Gly1046Ter) c.2965G>T (p.Gly989Ter) c.3382G>T (p.Gly1128Ter) c.3268G>T (p.Gly1090Ter) c.3250G>T (p.Gly1084Ter) c.3322G>T (p.Gly1108Ter) c.2782G>T (p.Gly928Ter) c.3109G>T (p.Gly1037Ter) c.3130G>T (p.Gly1044Ter) | |
4 | g.113333095G>A | CA357935985 | ANK2 | c.3407G>A (p.Gly1136Glu) c.3347G>A (p.Gly1116Glu) n.1449G>A n.903G>A n.111G>A n.6529G>A n.4903G>A n.23G>A n.882G>A n.2279G>A n.1646G>A n.992G>A n.1410G>A n.1861G>A c.3266G>A (p.Gly1089Glu) c.3104G>A (p.Gly1035Glu) c.653G>A (p.Gly218Glu) c.3080G>A (p.Gly1027Glu) c.3167G>A (p.Gly1056Glu) c.3302G>A (p.Gly1101Glu) c.3203G>A (p.Gly1068Glu) c.3140G>A (p.Gly1047Glu) c.3005G>A (p.Gly1002Glu) c.3083G>A (p.Gly1028Glu) c.2882G>A (p.Gly961Glu) c.2981G>A (p.Gly994Glu) c.3311G>A (p.Gly1104Glu) c.3116G>A (p.Gly1039Glu) c.3089G>A (p.Gly1030Glu) c.3068G>A (p.Gly1023Glu) c.3041G>A (p.Gly1014Glu) c.3239G>A (p.Gly1080Glu) c.830G>A (p.Gly277Glu) c.2684G>A (p.Gly895Glu) c.794G>A (p.Gly265Glu) c.3212G>A (p.Gly1071Glu) c.3065G>A (p.Gly1022Glu) c.2774G>A (p.Gly925Glu) c.2924G>A (p.Gly975Glu) n.114G>A c.303G>A c.3179G>A (p.Gly1060Glu) c.3299G>A (p.Gly1100Glu) c.3263G>A (p.Gly1088Glu) c.3353G>A (p.Gly1118Glu) c.3317G>A (p.Gly1106Glu) c.3293G>A (p.Gly1098Glu) c.3338G>A (p.Gly1113Glu) c.3278G>A (p.Gly1093Glu) c.3245G>A (p.Gly1082Glu) c.3308G>A (p.Gly1103Glu) c.3164G>A (p.Gly1055Glu) c.3344G>A (p.Gly1115Glu) c.3236G>A (p.Gly1079Glu) c.3200G>A (p.Gly1067Glu) c.3215G>A (p.Gly1072Glu) c.3125G>A (p.Gly1042Glu) c.3053G>A (p.Gly1018Glu) c.3137G>A (p.Gly1046Glu) c.2966G>A (p.Gly989Glu) c.3383G>A (p.Gly1128Glu) c.3269G>A (p.Gly1090Glu) c.3251G>A (p.Gly1084Glu) c.3323G>A (p.Gly1108Glu) c.2783G>A (p.Gly928Glu) c.3110G>A (p.Gly1037Glu) c.3131G>A (p.Gly1044Glu) | |
4 | g.113333095G>C | CA357935987 | ANK2 | c.3407G>C (p.Gly1136Ala) c.3347G>C (p.Gly1116Ala) n.1449G>C n.903G>C n.111G>C n.6529G>C n.4903G>C n.23G>C n.882G>C n.2279G>C n.1646G>C n.992G>C n.1410G>C n.1861G>C c.3266G>C (p.Gly1089Ala) c.3104G>C (p.Gly1035Ala) c.653G>C (p.Gly218Ala) c.3080G>C (p.Gly1027Ala) c.3167G>C (p.Gly1056Ala) c.3302G>C (p.Gly1101Ala) c.3203G>C (p.Gly1068Ala) c.3140G>C (p.Gly1047Ala) c.3005G>C (p.Gly1002Ala) c.3083G>C (p.Gly1028Ala) c.2882G>C (p.Gly961Ala) c.2981G>C (p.Gly994Ala) c.3311G>C (p.Gly1104Ala) c.3116G>C (p.Gly1039Ala) c.3089G>C (p.Gly1030Ala) c.3068G>C (p.Gly1023Ala) c.3041G>C (p.Gly1014Ala) c.3239G>C (p.Gly1080Ala) c.830G>C (p.Gly277Ala) c.2684G>C (p.Gly895Ala) c.794G>C (p.Gly265Ala) c.3212G>C (p.Gly1071Ala) c.3065G>C (p.Gly1022Ala) c.2774G>C (p.Gly925Ala) c.2924G>C (p.Gly975Ala) n.114G>C c.303G>C c.3179G>C (p.Gly1060Ala) c.3299G>C (p.Gly1100Ala) c.3263G>C (p.Gly1088Ala) c.3353G>C (p.Gly1118Ala) c.3317G>C (p.Gly1106Ala) c.3293G>C (p.Gly1098Ala) c.3338G>C (p.Gly1113Ala) c.3278G>C (p.Gly1093Ala) c.3245G>C (p.Gly1082Ala) c.3308G>C (p.Gly1103Ala) c.3164G>C (p.Gly1055Ala) c.3344G>C (p.Gly1115Ala) c.3236G>C (p.Gly1079Ala) c.3200G>C (p.Gly1067Ala) c.3215G>C (p.Gly1072Ala) c.3125G>C (p.Gly1042Ala) c.3053G>C (p.Gly1018Ala) c.3137G>C (p.Gly1046Ala) c.2966G>C (p.Gly989Ala) c.3383G>C (p.Gly1128Ala) c.3269G>C (p.Gly1090Ala) c.3251G>C (p.Gly1084Ala) c.3323G>C (p.Gly1108Ala) c.2783G>C (p.Gly928Ala) c.3110G>C (p.Gly1037Ala) c.3131G>C (p.Gly1044Ala) | |
4 | g.113333095G>T | CA357935988 | ANK2 | c.3407G>T (p.Gly1136Val) c.3347G>T (p.Gly1116Val) n.1449G>T n.903G>T n.111G>T n.6529G>T n.4903G>T n.23G>T n.882G>T n.2279G>T n.1646G>T n.992G>T n.1410G>T n.1861G>T c.3266G>T (p.Gly1089Val) c.3104G>T (p.Gly1035Val) c.653G>T (p.Gly218Val) c.3080G>T (p.Gly1027Val) c.3167G>T (p.Gly1056Val) c.3302G>T (p.Gly1101Val) c.3203G>T (p.Gly1068Val) c.3140G>T (p.Gly1047Val) c.3005G>T (p.Gly1002Val) c.3083G>T (p.Gly1028Val) c.2882G>T (p.Gly961Val) c.2981G>T (p.Gly994Val) c.3311G>T (p.Gly1104Val) c.3116G>T (p.Gly1039Val) c.3089G>T (p.Gly1030Val) c.3068G>T (p.Gly1023Val) c.3041G>T (p.Gly1014Val) c.3239G>T (p.Gly1080Val) c.830G>T (p.Gly277Val) c.2684G>T (p.Gly895Val) c.794G>T (p.Gly265Val) c.3212G>T (p.Gly1071Val) c.3065G>T (p.Gly1022Val) c.2774G>T (p.Gly925Val) c.2924G>T (p.Gly975Val) n.114G>T c.303G>T c.3179G>T (p.Gly1060Val) c.3299G>T (p.Gly1100Val) c.3263G>T (p.Gly1088Val) c.3353G>T (p.Gly1118Val) c.3317G>T (p.Gly1106Val) c.3293G>T (p.Gly1098Val) c.3338G>T (p.Gly1113Val) c.3278G>T (p.Gly1093Val) c.3245G>T (p.Gly1082Val) c.3308G>T (p.Gly1103Val) c.3164G>T (p.Gly1055Val) c.3344G>T (p.Gly1115Val) c.3236G>T (p.Gly1079Val) c.3200G>T (p.Gly1067Val) c.3215G>T (p.Gly1072Val) c.3125G>T (p.Gly1042Val) c.3053G>T (p.Gly1018Val) c.3137G>T (p.Gly1046Val) c.2966G>T (p.Gly989Val) c.3383G>T (p.Gly1128Val) c.3269G>T (p.Gly1090Val) c.3251G>T (p.Gly1084Val) c.3323G>T (p.Gly1108Val) c.2783G>T (p.Gly928Val) c.3110G>T (p.Gly1037Val) c.3131G>T (p.Gly1044Val) | |
4 | g.113333096A>C | CA440842835 | ANK2 | c.3408A>C (p.Gly1136=) c.3348A>C (p.Gly1116=) n.1450A>C n.904A>C n.112A>C n.6530A>C n.4904A>C n.24A>C n.883A>C n.2280A>C n.1647A>C n.993A>C n.1411A>C n.1862A>C c.3267A>C (p.Gly1089=) c.3105A>C (p.Gly1035=) c.654A>C (p.Gly218=) c.3081A>C (p.Gly1027=) c.3168A>C (p.Gly1056=) c.3303A>C (p.Gly1101=) c.3204A>C (p.Gly1068=) c.3141A>C (p.Gly1047=) c.3006A>C (p.Gly1002=) c.3084A>C (p.Gly1028=) c.2883A>C (p.Gly961=) c.2982A>C (p.Gly994=) c.3312A>C (p.Gly1104=) c.3117A>C (p.Gly1039=) c.3090A>C (p.Gly1030=) c.3069A>C (p.Gly1023=) c.3042A>C (p.Gly1014=) c.3240A>C (p.Gly1080=) c.831A>C (p.Gly277=) c.2685A>C (p.Gly895=) c.795A>C (p.Gly265=) c.3213A>C (p.Gly1071=) c.3066A>C (p.Gly1022=) c.2775A>C (p.Gly925=) c.2925A>C (p.Gly975=) n.115A>C c.304A>C c.3180A>C (p.Gly1060=) c.3300A>C (p.Gly1100=) c.3264A>C (p.Gly1088=) c.3354A>C (p.Gly1118=) c.3318A>C (p.Gly1106=) c.3294A>C (p.Gly1098=) c.3339A>C (p.Gly1113=) c.3279A>C (p.Gly1093=) c.3246A>C (p.Gly1082=) c.3309A>C (p.Gly1103=) c.3165A>C (p.Gly1055=) c.3345A>C (p.Gly1115=) c.3237A>C (p.Gly1079=) c.3201A>C (p.Gly1067=) c.3216A>C (p.Gly1072=) c.3126A>C (p.Gly1042=) c.3054A>C (p.Gly1018=) c.3138A>C (p.Gly1046=) c.2967A>C (p.Gly989=) c.3384A>C (p.Gly1128=) c.3270A>C (p.Gly1090=) c.3252A>C (p.Gly1084=) c.3324A>C (p.Gly1108=) c.2784A>C (p.Gly928=) c.3111A>C (p.Gly1037=) c.3132A>C (p.Gly1044=) | |
4 | g.113333096A>G | CA440842834 | ANK2 | c.3408A>G (p.Gly1136=) c.3348A>G (p.Gly1116=) n.1450A>G n.904A>G n.112A>G n.6530A>G n.4904A>G n.24A>G n.883A>G n.2280A>G n.1647A>G n.993A>G n.1411A>G n.1862A>G c.3267A>G (p.Gly1089=) c.3105A>G (p.Gly1035=) c.654A>G (p.Gly218=) c.3081A>G (p.Gly1027=) c.3168A>G (p.Gly1056=) c.3303A>G (p.Gly1101=) c.3204A>G (p.Gly1068=) c.3141A>G (p.Gly1047=) c.3006A>G (p.Gly1002=) c.3084A>G (p.Gly1028=) c.2883A>G (p.Gly961=) c.2982A>G (p.Gly994=) c.3312A>G (p.Gly1104=) c.3117A>G (p.Gly1039=) c.3090A>G (p.Gly1030=) c.3069A>G (p.Gly1023=) c.3042A>G (p.Gly1014=) c.3240A>G (p.Gly1080=) c.831A>G (p.Gly277=) c.2685A>G (p.Gly895=) c.795A>G (p.Gly265=) c.3213A>G (p.Gly1071=) c.3066A>G (p.Gly1022=) c.2775A>G (p.Gly925=) c.2925A>G (p.Gly975=) n.115A>G c.304A>G c.3180A>G (p.Gly1060=) c.3300A>G (p.Gly1100=) c.3264A>G (p.Gly1088=) c.3354A>G (p.Gly1118=) c.3318A>G (p.Gly1106=) c.3294A>G (p.Gly1098=) c.3339A>G (p.Gly1113=) c.3279A>G (p.Gly1093=) c.3246A>G (p.Gly1082=) c.3309A>G (p.Gly1103=) c.3165A>G (p.Gly1055=) c.3345A>G (p.Gly1115=) c.3237A>G (p.Gly1079=) c.3201A>G (p.Gly1067=) c.3216A>G (p.Gly1072=) c.3126A>G (p.Gly1042=) c.3054A>G (p.Gly1018=) c.3138A>G (p.Gly1046=) c.2967A>G (p.Gly989=) c.3384A>G (p.Gly1128=) c.3270A>G (p.Gly1090=) c.3252A>G (p.Gly1084=) c.3324A>G (p.Gly1108=) c.2784A>G (p.Gly928=) c.3111A>G (p.Gly1037=) c.3132A>G (p.Gly1044=) | |
4 | g.113333096A>T | CA440842832 | ANK2 | c.3408A>T (p.Gly1136=) c.3348A>T (p.Gly1116=) n.1450A>T n.904A>T n.112A>T n.6530A>T n.4904A>T n.24A>T n.883A>T n.2280A>T n.1647A>T n.993A>T n.1411A>T n.1862A>T c.3267A>T (p.Gly1089=) c.3105A>T (p.Gly1035=) c.654A>T (p.Gly218=) c.3081A>T (p.Gly1027=) c.3168A>T (p.Gly1056=) c.3303A>T (p.Gly1101=) c.3204A>T (p.Gly1068=) c.3141A>T (p.Gly1047=) c.3006A>T (p.Gly1002=) c.3084A>T (p.Gly1028=) c.2883A>T (p.Gly961=) c.2982A>T (p.Gly994=) c.3312A>T (p.Gly1104=) c.3117A>T (p.Gly1039=) c.3090A>T (p.Gly1030=) c.3069A>T (p.Gly1023=) c.3042A>T (p.Gly1014=) c.3240A>T (p.Gly1080=) c.831A>T (p.Gly277=) c.2685A>T (p.Gly895=) c.795A>T (p.Gly265=) c.3213A>T (p.Gly1071=) c.3066A>T (p.Gly1022=) c.2775A>T (p.Gly925=) c.2925A>T (p.Gly975=) n.115A>T c.304A>T c.3180A>T (p.Gly1060=) c.3300A>T (p.Gly1100=) c.3264A>T (p.Gly1088=) c.3354A>T (p.Gly1118=) c.3318A>T (p.Gly1106=) c.3294A>T (p.Gly1098=) c.3339A>T (p.Gly1113=) c.3279A>T (p.Gly1093=) c.3246A>T (p.Gly1082=) c.3309A>T (p.Gly1103=) c.3165A>T (p.Gly1055=) c.3345A>T (p.Gly1115=) c.3237A>T (p.Gly1079=) c.3201A>T (p.Gly1067=) c.3216A>T (p.Gly1072=) c.3126A>T (p.Gly1042=) c.3054A>T (p.Gly1018=) c.3138A>T (p.Gly1046=) c.2967A>T (p.Gly989=) c.3384A>T (p.Gly1128=) c.3270A>T (p.Gly1090=) c.3252A>T (p.Gly1084=) c.3324A>T (p.Gly1108=) c.2784A>T (p.Gly928=) c.3111A>T (p.Gly1037=) c.3132A>T (p.Gly1044=) | |
4 | g.113333097A>C | CA357935994 | ANK2 | c.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) | |
4 | g.113333097A>G | CA357935992 | ANK2 | c.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 |
4 | g.113333097A>T | CA357935990 | ANK2 | c.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 |
4 | g.113333098A>C | CA357935996 | ANK2 | c.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) | |
4 | g.113333098A>G | CA357935998 | ANK2 | c.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 |
4 | g.113333098A>T | CA357935999 | ANK2 | c.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 |
4 | g.113333099G>A | CA10619943 | ANK2 | c.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 |
4 | g.113333099G>C | CA357936003 | ANK2 | c.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 |
4 | g.113333099G>T | CA357936004 | ANK2 | c.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) | |
4 | g.113333100G>A | CA357936005 | ANK2 | c.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 |
4 | g.113333100G>C | CA357936007 | ANK2 | c.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) | |
4 | g.113333100G>T | CA357936008 | ANK2 | c.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) | |
4 | g.113333101A>C | CA357936010 | ANK2 | c.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) | |
4 | g.113333101A>G | CA357936012 | ANK2 | c.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 |