UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.113333109C>A | CA3050816 | ANK2 | c.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 |
| 4 | g.113333109C>G | CA357936049 | ANK2 | c.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 |
| 4 | g.113333109C>T | CA440842843 | ANK2 | c.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 |
| 4 | g.113333110T>A | CA357936052 | ANK2 | c.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) | |
| 4 | g.113333110T>C | CA357936054 | ANK2 | c.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 |
| 4 | g.113333110T>G | CA357936055 | ANK2 | c.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) | |
| 4 | g.113333110dup | CA2580071447 | ANK2 | c.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 |
| 4 | g.113333111G>A | CA440842845 | ANK2 | c.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 |
| 4 | g.113333111G>C | CA440842846 | ANK2 | c.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 |
| 4 | g.113333111G>T | CA440842844 | ANK2 | c.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=) | |
| 4 | g.113333112G>A | CA357936058 | ANK2 | c.3424G>A (p.Val1142Met) c.3364G>A (p.Val1122Met) n.1466G>A n.920G>A n.128G>A n.6546G>A n.4920G>A n.40G>A n.899G>A n.2296G>A n.1663G>A n.1009G>A n.1427G>A n.1878G>A c.3283G>A (p.Val1095Met) c.3121G>A (p.Val1041Met) c.670G>A (p.Val224Met) c.3097G>A (p.Val1033Met) c.3184G>A (p.Val1062Met) c.3319G>A (p.Val1107Met) c.3220G>A (p.Val1074Met) c.3157G>A (p.Val1053Met) c.3022G>A (p.Val1008Met) c.3100G>A (p.Val1034Met) c.2899G>A (p.Val967Met) c.2998G>A (p.Val1000Met) c.3328G>A (p.Val1110Met) c.3133G>A (p.Val1045Met) c.3106G>A (p.Val1036Met) c.3085G>A (p.Val1029Met) c.3058G>A (p.Val1020Met) c.3256G>A (p.Val1086Met) c.847G>A (p.Val283Met) c.2701G>A (p.Val901Met) c.811G>A (p.Val271Met) c.3229G>A (p.Val1077Met) c.3082G>A (p.Val1028Met) c.2791G>A (p.Val931Met) c.2941G>A (p.Val981Met) n.131G>A c.320G>A c.3196G>A (p.Val1066Met) c.3316G>A (p.Val1106Met) c.3280G>A (p.Val1094Met) c.3370G>A (p.Val1124Met) c.3334G>A (p.Val1112Met) c.3310G>A (p.Val1104Met) c.3355G>A (p.Val1119Met) c.3295G>A (p.Val1099Met) c.3262G>A (p.Val1088Met) c.3325G>A (p.Val1109Met) c.3181G>A (p.Val1061Met) c.3361G>A (p.Val1121Met) c.3253G>A (p.Val1085Met) c.3217G>A (p.Val1073Met) c.3232G>A (p.Val1078Met) c.3142G>A (p.Val1048Met) c.3070G>A (p.Val1024Met) c.3154G>A (p.Val1052Met) c.2983G>A (p.Val995Met) c.3400G>A (p.Val1134Met) c.3286G>A (p.Val1096Met) c.3268G>A (p.Val1090Met) c.3340G>A (p.Val1114Met) c.2800G>A (p.Val934Met) c.3127G>A (p.Val1043Met) c.3148G>A (p.Val1050Met) | dbSNP |
| 4 | g.113333112G>C | CA357936059 | ANK2 | c.3424G>C (p.Val1142Leu) c.3364G>C (p.Val1122Leu) n.1466G>C n.920G>C n.128G>C n.6546G>C n.4920G>C n.40G>C n.899G>C n.2296G>C n.1663G>C n.1009G>C n.1427G>C n.1878G>C c.3283G>C (p.Val1095Leu) c.3121G>C (p.Val1041Leu) c.670G>C (p.Val224Leu) c.3097G>C (p.Val1033Leu) c.3184G>C (p.Val1062Leu) c.3319G>C (p.Val1107Leu) c.3220G>C (p.Val1074Leu) c.3157G>C (p.Val1053Leu) c.3022G>C (p.Val1008Leu) c.3100G>C (p.Val1034Leu) c.2899G>C (p.Val967Leu) c.2998G>C (p.Val1000Leu) c.3328G>C (p.Val1110Leu) c.3133G>C (p.Val1045Leu) c.3106G>C (p.Val1036Leu) c.3085G>C (p.Val1029Leu) c.3058G>C (p.Val1020Leu) c.3256G>C (p.Val1086Leu) c.847G>C (p.Val283Leu) c.2701G>C (p.Val901Leu) c.811G>C (p.Val271Leu) c.3229G>C (p.Val1077Leu) c.3082G>C (p.Val1028Leu) c.2791G>C (p.Val931Leu) c.2941G>C (p.Val981Leu) n.131G>C c.320G>C c.3196G>C (p.Val1066Leu) c.3316G>C (p.Val1106Leu) c.3280G>C (p.Val1094Leu) c.3370G>C (p.Val1124Leu) c.3334G>C (p.Val1112Leu) c.3310G>C (p.Val1104Leu) c.3355G>C (p.Val1119Leu) c.3295G>C (p.Val1099Leu) c.3262G>C (p.Val1088Leu) c.3325G>C (p.Val1109Leu) c.3181G>C (p.Val1061Leu) c.3361G>C (p.Val1121Leu) c.3253G>C (p.Val1085Leu) c.3217G>C (p.Val1073Leu) c.3232G>C (p.Val1078Leu) c.3142G>C (p.Val1048Leu) c.3070G>C (p.Val1024Leu) c.3154G>C (p.Val1052Leu) c.2983G>C (p.Val995Leu) c.3400G>C (p.Val1134Leu) c.3286G>C (p.Val1096Leu) c.3268G>C (p.Val1090Leu) c.3340G>C (p.Val1114Leu) c.2800G>C (p.Val934Leu) c.3127G>C (p.Val1043Leu) c.3148G>C (p.Val1050Leu) | dbSNP |
| 4 | g.113333112G>T | CA357936060 | ANK2 | c.3424G>T (p.Val1142Leu) c.3364G>T (p.Val1122Leu) n.1466G>T n.920G>T n.128G>T n.6546G>T n.4920G>T n.40G>T n.899G>T n.2296G>T n.1663G>T n.1009G>T n.1427G>T n.1878G>T c.3283G>T (p.Val1095Leu) c.3121G>T (p.Val1041Leu) c.670G>T (p.Val224Leu) c.3097G>T (p.Val1033Leu) c.3184G>T (p.Val1062Leu) c.3319G>T (p.Val1107Leu) c.3220G>T (p.Val1074Leu) c.3157G>T (p.Val1053Leu) c.3022G>T (p.Val1008Leu) c.3100G>T (p.Val1034Leu) c.2899G>T (p.Val967Leu) c.2998G>T (p.Val1000Leu) c.3328G>T (p.Val1110Leu) c.3133G>T (p.Val1045Leu) c.3106G>T (p.Val1036Leu) c.3085G>T (p.Val1029Leu) c.3058G>T (p.Val1020Leu) c.3256G>T (p.Val1086Leu) c.847G>T (p.Val283Leu) c.2701G>T (p.Val901Leu) c.811G>T (p.Val271Leu) c.3229G>T (p.Val1077Leu) c.3082G>T (p.Val1028Leu) c.2791G>T (p.Val931Leu) c.2941G>T (p.Val981Leu) n.131G>T c.320G>T c.3196G>T (p.Val1066Leu) c.3316G>T (p.Val1106Leu) c.3280G>T (p.Val1094Leu) c.3370G>T (p.Val1124Leu) c.3334G>T (p.Val1112Leu) c.3310G>T (p.Val1104Leu) c.3355G>T (p.Val1119Leu) c.3295G>T (p.Val1099Leu) c.3262G>T (p.Val1088Leu) c.3325G>T (p.Val1109Leu) c.3181G>T (p.Val1061Leu) c.3361G>T (p.Val1121Leu) c.3253G>T (p.Val1085Leu) c.3217G>T (p.Val1073Leu) c.3232G>T (p.Val1078Leu) c.3142G>T (p.Val1048Leu) c.3070G>T (p.Val1024Leu) c.3154G>T (p.Val1052Leu) c.2983G>T (p.Val995Leu) c.3400G>T (p.Val1134Leu) c.3286G>T (p.Val1096Leu) c.3268G>T (p.Val1090Leu) c.3340G>T (p.Val1114Leu) c.2800G>T (p.Val934Leu) c.3127G>T (p.Val1043Leu) c.3148G>T (p.Val1050Leu) | dbSNP |
| 4 | g.113333113T>A | CA357936062 | ANK2 | c.3425T>A (p.Val1142Glu) c.3365T>A (p.Val1122Glu) n.1467T>A n.921T>A n.129T>A n.6547T>A n.4921T>A n.41T>A n.900T>A n.2297T>A n.1664T>A n.1010T>A n.1428T>A n.1879T>A c.3284T>A (p.Val1095Glu) c.3122T>A (p.Val1041Glu) c.671T>A (p.Val224Glu) c.3098T>A (p.Val1033Glu) c.3185T>A (p.Val1062Glu) c.3320T>A (p.Val1107Glu) c.3221T>A (p.Val1074Glu) c.3158T>A (p.Val1053Glu) c.3023T>A (p.Val1008Glu) c.3101T>A (p.Val1034Glu) c.2900T>A (p.Val967Glu) c.2999T>A (p.Val1000Glu) c.3329T>A (p.Val1110Glu) c.3134T>A (p.Val1045Glu) c.3107T>A (p.Val1036Glu) c.3086T>A (p.Val1029Glu) c.3059T>A (p.Val1020Glu) c.3257T>A (p.Val1086Glu) c.848T>A (p.Val283Glu) c.2702T>A (p.Val901Glu) c.812T>A (p.Val271Glu) c.3230T>A (p.Val1077Glu) c.3083T>A (p.Val1028Glu) c.2792T>A (p.Val931Glu) c.2942T>A (p.Val981Glu) n.132T>A c.321T>A c.3197T>A (p.Val1066Glu) c.3317T>A (p.Val1106Glu) c.3281T>A (p.Val1094Glu) c.3371T>A (p.Val1124Glu) c.3335T>A (p.Val1112Glu) c.3311T>A (p.Val1104Glu) c.3356T>A (p.Val1119Glu) c.3296T>A (p.Val1099Glu) c.3263T>A (p.Val1088Glu) c.3326T>A (p.Val1109Glu) c.3182T>A (p.Val1061Glu) c.3362T>A (p.Val1121Glu) c.3254T>A (p.Val1085Glu) c.3218T>A (p.Val1073Glu) c.3233T>A (p.Val1078Glu) c.3143T>A (p.Val1048Glu) c.3071T>A (p.Val1024Glu) c.3155T>A (p.Val1052Glu) c.2984T>A (p.Val995Glu) c.3401T>A (p.Val1134Glu) c.3287T>A (p.Val1096Glu) c.3269T>A (p.Val1090Glu) c.3341T>A (p.Val1114Glu) c.2801T>A (p.Val934Glu) c.3128T>A (p.Val1043Glu) c.3149T>A (p.Val1050Glu) | |
| 4 | g.113333113T>C | CA357936064 | ANK2 | c.3425T>C (p.Val1142Ala) c.3365T>C (p.Val1122Ala) n.1467T>C n.921T>C n.129T>C n.6547T>C n.4921T>C n.41T>C n.900T>C n.2297T>C n.1664T>C n.1010T>C n.1428T>C n.1879T>C c.3284T>C (p.Val1095Ala) c.3122T>C (p.Val1041Ala) c.671T>C (p.Val224Ala) c.3098T>C (p.Val1033Ala) c.3185T>C (p.Val1062Ala) c.3320T>C (p.Val1107Ala) c.3221T>C (p.Val1074Ala) c.3158T>C (p.Val1053Ala) c.3023T>C (p.Val1008Ala) c.3101T>C (p.Val1034Ala) c.2900T>C (p.Val967Ala) c.2999T>C (p.Val1000Ala) c.3329T>C (p.Val1110Ala) c.3134T>C (p.Val1045Ala) c.3107T>C (p.Val1036Ala) c.3086T>C (p.Val1029Ala) c.3059T>C (p.Val1020Ala) c.3257T>C (p.Val1086Ala) c.848T>C (p.Val283Ala) c.2702T>C (p.Val901Ala) c.812T>C (p.Val271Ala) c.3230T>C (p.Val1077Ala) c.3083T>C (p.Val1028Ala) c.2792T>C (p.Val931Ala) c.2942T>C (p.Val981Ala) n.132T>C c.321T>C c.3197T>C (p.Val1066Ala) c.3317T>C (p.Val1106Ala) c.3281T>C (p.Val1094Ala) c.3371T>C (p.Val1124Ala) c.3335T>C (p.Val1112Ala) c.3311T>C (p.Val1104Ala) c.3356T>C (p.Val1119Ala) c.3296T>C (p.Val1099Ala) c.3263T>C (p.Val1088Ala) c.3326T>C (p.Val1109Ala) c.3182T>C (p.Val1061Ala) c.3362T>C (p.Val1121Ala) c.3254T>C (p.Val1085Ala) c.3218T>C (p.Val1073Ala) c.3233T>C (p.Val1078Ala) c.3143T>C (p.Val1048Ala) c.3071T>C (p.Val1024Ala) c.3155T>C (p.Val1052Ala) c.2984T>C (p.Val995Ala) c.3401T>C (p.Val1134Ala) c.3287T>C (p.Val1096Ala) c.3269T>C (p.Val1090Ala) c.3341T>C (p.Val1114Ala) c.2801T>C (p.Val934Ala) c.3128T>C (p.Val1043Ala) c.3149T>C (p.Val1050Ala) | gnomAD v4 |
| 4 | g.113333113T>G | CA357936065 | ANK2 | c.3425T>G (p.Val1142Gly) c.3365T>G (p.Val1122Gly) n.1467T>G n.921T>G n.129T>G n.6547T>G n.4921T>G n.41T>G n.900T>G n.2297T>G n.1664T>G n.1010T>G n.1428T>G n.1879T>G c.3284T>G (p.Val1095Gly) c.3122T>G (p.Val1041Gly) c.671T>G (p.Val224Gly) c.3098T>G (p.Val1033Gly) c.3185T>G (p.Val1062Gly) c.3320T>G (p.Val1107Gly) c.3221T>G (p.Val1074Gly) c.3158T>G (p.Val1053Gly) c.3023T>G (p.Val1008Gly) c.3101T>G (p.Val1034Gly) c.2900T>G (p.Val967Gly) c.2999T>G (p.Val1000Gly) c.3329T>G (p.Val1110Gly) c.3134T>G (p.Val1045Gly) c.3107T>G (p.Val1036Gly) c.3086T>G (p.Val1029Gly) c.3059T>G (p.Val1020Gly) c.3257T>G (p.Val1086Gly) c.848T>G (p.Val283Gly) c.2702T>G (p.Val901Gly) c.812T>G (p.Val271Gly) c.3230T>G (p.Val1077Gly) c.3083T>G (p.Val1028Gly) c.2792T>G (p.Val931Gly) c.2942T>G (p.Val981Gly) n.132T>G c.321T>G c.3197T>G (p.Val1066Gly) c.3317T>G (p.Val1106Gly) c.3281T>G (p.Val1094Gly) c.3371T>G (p.Val1124Gly) c.3335T>G (p.Val1112Gly) c.3311T>G (p.Val1104Gly) c.3356T>G (p.Val1119Gly) c.3296T>G (p.Val1099Gly) c.3263T>G (p.Val1088Gly) c.3326T>G (p.Val1109Gly) c.3182T>G (p.Val1061Gly) c.3362T>G (p.Val1121Gly) c.3254T>G (p.Val1085Gly) c.3218T>G (p.Val1073Gly) c.3233T>G (p.Val1078Gly) c.3143T>G (p.Val1048Gly) c.3071T>G (p.Val1024Gly) c.3155T>G (p.Val1052Gly) c.2984T>G (p.Val995Gly) c.3401T>G (p.Val1134Gly) c.3287T>G (p.Val1096Gly) c.3269T>G (p.Val1090Gly) c.3341T>G (p.Val1114Gly) c.2801T>G (p.Val934Gly) c.3128T>G (p.Val1043Gly) c.3149T>G (p.Val1050Gly) | |
| 4 | g.113333114G>A | CA440842847 | ANK2 | c.3426G>A (p.Val1142=) c.3366G>A (p.Val1122=) n.1468G>A n.922G>A n.130G>A n.6548G>A n.4922G>A n.42G>A n.901G>A n.2298G>A n.1665G>A n.1011G>A n.1429G>A n.1880G>A c.3285G>A (p.Val1095=) c.3123G>A (p.Val1041=) c.672G>A (p.Val224=) c.3099G>A (p.Val1033=) c.3186G>A (p.Val1062=) c.3321G>A (p.Val1107=) c.3222G>A (p.Val1074=) c.3159G>A (p.Val1053=) c.3024G>A (p.Val1008=) c.3102G>A (p.Val1034=) c.2901G>A (p.Val967=) c.3000G>A (p.Val1000=) c.3330G>A (p.Val1110=) c.3135G>A (p.Val1045=) c.3108G>A (p.Val1036=) c.3087G>A (p.Val1029=) c.3060G>A (p.Val1020=) c.3258G>A (p.Val1086=) c.849G>A (p.Val283=) c.2703G>A (p.Val901=) c.813G>A (p.Val271=) c.3231G>A (p.Val1077=) c.3084G>A (p.Val1028=) c.2793G>A (p.Val931=) c.2943G>A (p.Val981=) n.133G>A c.322G>A c.3198G>A (p.Val1066=) c.3318G>A (p.Val1106=) c.3282G>A (p.Val1094=) c.3372G>A (p.Val1124=) c.3336G>A (p.Val1112=) c.3312G>A (p.Val1104=) c.3357G>A (p.Val1119=) c.3297G>A (p.Val1099=) c.3264G>A (p.Val1088=) c.3327G>A (p.Val1109=) c.3183G>A (p.Val1061=) c.3363G>A (p.Val1121=) c.3255G>A (p.Val1085=) c.3219G>A (p.Val1073=) c.3234G>A (p.Val1078=) c.3144G>A (p.Val1048=) c.3072G>A (p.Val1024=) c.3156G>A (p.Val1052=) c.2985G>A (p.Val995=) c.3402G>A (p.Val1134=) c.3288G>A (p.Val1096=) c.3270G>A (p.Val1090=) c.3342G>A (p.Val1114=) c.2802G>A (p.Val934=) c.3129G>A (p.Val1043=) c.3150G>A (p.Val1050=) | dbSNP |
| 4 | g.113333114G>C | CA440842848 | ANK2 | c.3426G>C (p.Val1142=) c.3366G>C (p.Val1122=) n.1468G>C n.922G>C n.130G>C n.6548G>C n.4922G>C n.42G>C n.901G>C n.2298G>C n.1665G>C n.1011G>C n.1429G>C n.1880G>C c.3285G>C (p.Val1095=) c.3123G>C (p.Val1041=) c.672G>C (p.Val224=) c.3099G>C (p.Val1033=) c.3186G>C (p.Val1062=) c.3321G>C (p.Val1107=) c.3222G>C (p.Val1074=) c.3159G>C (p.Val1053=) c.3024G>C (p.Val1008=) c.3102G>C (p.Val1034=) c.2901G>C (p.Val967=) c.3000G>C (p.Val1000=) c.3330G>C (p.Val1110=) c.3135G>C (p.Val1045=) c.3108G>C (p.Val1036=) c.3087G>C (p.Val1029=) c.3060G>C (p.Val1020=) c.3258G>C (p.Val1086=) c.849G>C (p.Val283=) c.2703G>C (p.Val901=) c.813G>C (p.Val271=) c.3231G>C (p.Val1077=) c.3084G>C (p.Val1028=) c.2793G>C (p.Val931=) c.2943G>C (p.Val981=) n.133G>C c.322G>C c.3198G>C (p.Val1066=) c.3318G>C (p.Val1106=) c.3282G>C (p.Val1094=) c.3372G>C (p.Val1124=) c.3336G>C (p.Val1112=) c.3312G>C (p.Val1104=) c.3357G>C (p.Val1119=) c.3297G>C (p.Val1099=) c.3264G>C (p.Val1088=) c.3327G>C (p.Val1109=) c.3183G>C (p.Val1061=) c.3363G>C (p.Val1121=) c.3255G>C (p.Val1085=) c.3219G>C (p.Val1073=) c.3234G>C (p.Val1078=) c.3144G>C (p.Val1048=) c.3072G>C (p.Val1024=) c.3156G>C (p.Val1052=) c.2985G>C (p.Val995=) c.3402G>C (p.Val1134=) c.3288G>C (p.Val1096=) c.3270G>C (p.Val1090=) c.3342G>C (p.Val1114=) c.2802G>C (p.Val934=) c.3129G>C (p.Val1043=) c.3150G>C (p.Val1050=) | |
| 4 | g.113333114G>T | CA440842849 | ANK2 | c.3426G>T (p.Val1142=) c.3366G>T (p.Val1122=) n.1468G>T n.922G>T n.130G>T n.6548G>T n.4922G>T n.42G>T n.901G>T n.2298G>T n.1665G>T n.1011G>T n.1429G>T n.1880G>T c.3285G>T (p.Val1095=) c.3123G>T (p.Val1041=) c.672G>T (p.Val224=) c.3099G>T (p.Val1033=) c.3186G>T (p.Val1062=) c.3321G>T (p.Val1107=) c.3222G>T (p.Val1074=) c.3159G>T (p.Val1053=) c.3024G>T (p.Val1008=) c.3102G>T (p.Val1034=) c.2901G>T (p.Val967=) c.3000G>T (p.Val1000=) c.3330G>T (p.Val1110=) c.3135G>T (p.Val1045=) c.3108G>T (p.Val1036=) c.3087G>T (p.Val1029=) c.3060G>T (p.Val1020=) c.3258G>T (p.Val1086=) c.849G>T (p.Val283=) c.2703G>T (p.Val901=) c.813G>T (p.Val271=) c.3231G>T (p.Val1077=) c.3084G>T (p.Val1028=) c.2793G>T (p.Val931=) c.2943G>T (p.Val981=) n.133G>T c.322G>T c.3198G>T (p.Val1066=) c.3318G>T (p.Val1106=) c.3282G>T (p.Val1094=) c.3372G>T (p.Val1124=) c.3336G>T (p.Val1112=) c.3312G>T (p.Val1104=) c.3357G>T (p.Val1119=) c.3297G>T (p.Val1099=) c.3264G>T (p.Val1088=) c.3327G>T (p.Val1109=) c.3183G>T (p.Val1061=) c.3363G>T (p.Val1121=) c.3255G>T (p.Val1085=) c.3219G>T (p.Val1073=) c.3234G>T (p.Val1078=) c.3144G>T (p.Val1048=) c.3072G>T (p.Val1024=) c.3156G>T (p.Val1052=) c.2985G>T (p.Val995=) c.3402G>T (p.Val1134=) c.3288G>T (p.Val1096=) c.3270G>T (p.Val1090=) c.3342G>T (p.Val1114=) c.2802G>T (p.Val934=) c.3129G>T (p.Val1043=) c.3150G>T (p.Val1050=) | |
| 4 | g.113333115G>A | CA357936068 | ANK2 | c.3427G>A (p.Val1143Ile) c.3367G>A (p.Val1123Ile) n.1469G>A n.923G>A n.131G>A n.6549G>A n.4923G>A n.43G>A n.902G>A n.2299G>A n.1666G>A n.1012G>A n.1430G>A n.1881G>A c.3286G>A (p.Val1096Ile) c.3124G>A (p.Val1042Ile) c.673G>A (p.Val225Ile) c.3100G>A (p.Val1034Ile) c.3187G>A (p.Val1063Ile) c.3322G>A (p.Val1108Ile) c.3223G>A (p.Val1075Ile) c.3160G>A (p.Val1054Ile) c.3025G>A (p.Val1009Ile) c.3103G>A (p.Val1035Ile) c.2902G>A (p.Val968Ile) c.3001G>A (p.Val1001Ile) c.3331G>A (p.Val1111Ile) c.3136G>A (p.Val1046Ile) c.3109G>A (p.Val1037Ile) c.3088G>A (p.Val1030Ile) c.3061G>A (p.Val1021Ile) c.3259G>A (p.Val1087Ile) c.850G>A (p.Val284Ile) c.2704G>A (p.Val902Ile) c.814G>A (p.Val272Ile) c.3232G>A (p.Val1078Ile) c.3085G>A (p.Val1029Ile) c.2794G>A (p.Val932Ile) c.2944G>A (p.Val982Ile) n.134G>A c.323G>A c.3199G>A (p.Val1067Ile) c.3319G>A (p.Val1107Ile) c.3283G>A (p.Val1095Ile) c.3373G>A (p.Val1125Ile) c.3337G>A (p.Val1113Ile) c.3313G>A (p.Val1105Ile) c.3358G>A (p.Val1120Ile) c.3298G>A (p.Val1100Ile) c.3265G>A (p.Val1089Ile) c.3328G>A (p.Val1110Ile) c.3184G>A (p.Val1062Ile) c.3364G>A (p.Val1122Ile) c.3256G>A (p.Val1086Ile) c.3220G>A (p.Val1074Ile) c.3235G>A (p.Val1079Ile) c.3145G>A (p.Val1049Ile) c.3073G>A (p.Val1025Ile) c.3157G>A (p.Val1053Ile) c.2986G>A (p.Val996Ile) c.3403G>A (p.Val1135Ile) c.3289G>A (p.Val1097Ile) c.3271G>A (p.Val1091Ile) c.3343G>A (p.Val1115Ile) c.2803G>A (p.Val935Ile) c.3130G>A (p.Val1044Ile) c.3151G>A (p.Val1051Ile) | dbSNP |
| 4 | g.113333115G>C | CA357936069 | ANK2 | c.3427G>C (p.Val1143Leu) c.3367G>C (p.Val1123Leu) n.1469G>C n.923G>C n.131G>C n.6549G>C n.4923G>C n.43G>C n.902G>C n.2299G>C n.1666G>C n.1012G>C n.1430G>C n.1881G>C c.3286G>C (p.Val1096Leu) c.3124G>C (p.Val1042Leu) c.673G>C (p.Val225Leu) c.3100G>C (p.Val1034Leu) c.3187G>C (p.Val1063Leu) c.3322G>C (p.Val1108Leu) c.3223G>C (p.Val1075Leu) c.3160G>C (p.Val1054Leu) c.3025G>C (p.Val1009Leu) c.3103G>C (p.Val1035Leu) c.2902G>C (p.Val968Leu) c.3001G>C (p.Val1001Leu) c.3331G>C (p.Val1111Leu) c.3136G>C (p.Val1046Leu) c.3109G>C (p.Val1037Leu) c.3088G>C (p.Val1030Leu) c.3061G>C (p.Val1021Leu) c.3259G>C (p.Val1087Leu) c.850G>C (p.Val284Leu) c.2704G>C (p.Val902Leu) c.814G>C (p.Val272Leu) c.3232G>C (p.Val1078Leu) c.3085G>C (p.Val1029Leu) c.2794G>C (p.Val932Leu) c.2944G>C (p.Val982Leu) n.134G>C c.323G>C c.3199G>C (p.Val1067Leu) c.3319G>C (p.Val1107Leu) c.3283G>C (p.Val1095Leu) c.3373G>C (p.Val1125Leu) c.3337G>C (p.Val1113Leu) c.3313G>C (p.Val1105Leu) c.3358G>C (p.Val1120Leu) c.3298G>C (p.Val1100Leu) c.3265G>C (p.Val1089Leu) c.3328G>C (p.Val1110Leu) c.3184G>C (p.Val1062Leu) c.3364G>C (p.Val1122Leu) c.3256G>C (p.Val1086Leu) c.3220G>C (p.Val1074Leu) c.3235G>C (p.Val1079Leu) c.3145G>C (p.Val1049Leu) c.3073G>C (p.Val1025Leu) c.3157G>C (p.Val1053Leu) c.2986G>C (p.Val996Leu) c.3403G>C (p.Val1135Leu) c.3289G>C (p.Val1097Leu) c.3271G>C (p.Val1091Leu) c.3343G>C (p.Val1115Leu) c.2803G>C (p.Val935Leu) c.3130G>C (p.Val1044Leu) c.3151G>C (p.Val1051Leu) | dbSNP gnomAD v4 |
| 4 | g.113333115G>T | CA357936071 | ANK2 | c.3427G>T (p.Val1143Phe) c.3367G>T (p.Val1123Phe) n.1469G>T n.923G>T n.131G>T n.6549G>T n.4923G>T n.43G>T n.902G>T n.2299G>T n.1666G>T n.1012G>T n.1430G>T n.1881G>T c.3286G>T (p.Val1096Phe) c.3124G>T (p.Val1042Phe) c.673G>T (p.Val225Phe) c.3100G>T (p.Val1034Phe) c.3187G>T (p.Val1063Phe) c.3322G>T (p.Val1108Phe) c.3223G>T (p.Val1075Phe) c.3160G>T (p.Val1054Phe) c.3025G>T (p.Val1009Phe) c.3103G>T (p.Val1035Phe) c.2902G>T (p.Val968Phe) c.3001G>T (p.Val1001Phe) c.3331G>T (p.Val1111Phe) c.3136G>T (p.Val1046Phe) c.3109G>T (p.Val1037Phe) c.3088G>T (p.Val1030Phe) c.3061G>T (p.Val1021Phe) c.3259G>T (p.Val1087Phe) c.850G>T (p.Val284Phe) c.2704G>T (p.Val902Phe) c.814G>T (p.Val272Phe) c.3232G>T (p.Val1078Phe) c.3085G>T (p.Val1029Phe) c.2794G>T (p.Val932Phe) c.2944G>T (p.Val982Phe) n.134G>T c.323G>T c.3199G>T (p.Val1067Phe) c.3319G>T (p.Val1107Phe) c.3283G>T (p.Val1095Phe) c.3373G>T (p.Val1125Phe) c.3337G>T (p.Val1113Phe) c.3313G>T (p.Val1105Phe) c.3358G>T (p.Val1120Phe) c.3298G>T (p.Val1100Phe) c.3265G>T (p.Val1089Phe) c.3328G>T (p.Val1110Phe) c.3184G>T (p.Val1062Phe) c.3364G>T (p.Val1122Phe) c.3256G>T (p.Val1086Phe) c.3220G>T (p.Val1074Phe) c.3235G>T (p.Val1079Phe) c.3145G>T (p.Val1049Phe) c.3073G>T (p.Val1025Phe) c.3157G>T (p.Val1053Phe) c.2986G>T (p.Val996Phe) c.3403G>T (p.Val1135Phe) c.3289G>T (p.Val1097Phe) c.3271G>T (p.Val1091Phe) c.3343G>T (p.Val1115Phe) c.2803G>T (p.Val935Phe) c.3130G>T (p.Val1044Phe) c.3151G>T (p.Val1051Phe) | dbSNP |
| 4 | g.113333116T>A | CA357936073 | ANK2 | c.3428T>A (p.Val1143Asp) c.3368T>A (p.Val1123Asp) n.1470T>A n.924T>A n.132T>A n.6550T>A n.4924T>A n.44T>A n.903T>A n.2300T>A n.1667T>A n.1013T>A n.1431T>A n.1882T>A c.3287T>A (p.Val1096Asp) c.3125T>A (p.Val1042Asp) c.674T>A (p.Val225Asp) c.3101T>A (p.Val1034Asp) c.3188T>A (p.Val1063Asp) c.3323T>A (p.Val1108Asp) c.3224T>A (p.Val1075Asp) c.3161T>A (p.Val1054Asp) c.3026T>A (p.Val1009Asp) c.3104T>A (p.Val1035Asp) c.2903T>A (p.Val968Asp) c.3002T>A (p.Val1001Asp) c.3332T>A (p.Val1111Asp) c.3137T>A (p.Val1046Asp) c.3110T>A (p.Val1037Asp) c.3089T>A (p.Val1030Asp) c.3062T>A (p.Val1021Asp) c.3260T>A (p.Val1087Asp) c.851T>A (p.Val284Asp) c.2705T>A (p.Val902Asp) c.815T>A (p.Val272Asp) c.3233T>A (p.Val1078Asp) c.3086T>A (p.Val1029Asp) c.2795T>A (p.Val932Asp) c.2945T>A (p.Val982Asp) n.135T>A c.324T>A c.3200T>A (p.Val1067Asp) c.3320T>A (p.Val1107Asp) c.3284T>A (p.Val1095Asp) c.3374T>A (p.Val1125Asp) c.3338T>A (p.Val1113Asp) c.3314T>A (p.Val1105Asp) c.3359T>A (p.Val1120Asp) c.3299T>A (p.Val1100Asp) c.3266T>A (p.Val1089Asp) c.3329T>A (p.Val1110Asp) c.3185T>A (p.Val1062Asp) c.3365T>A (p.Val1122Asp) c.3257T>A (p.Val1086Asp) c.3221T>A (p.Val1074Asp) c.3236T>A (p.Val1079Asp) c.3146T>A (p.Val1049Asp) c.3074T>A (p.Val1025Asp) c.3158T>A (p.Val1053Asp) c.2987T>A (p.Val996Asp) c.3404T>A (p.Val1135Asp) c.3290T>A (p.Val1097Asp) c.3272T>A (p.Val1091Asp) c.3344T>A (p.Val1115Asp) c.2804T>A (p.Val935Asp) c.3131T>A (p.Val1044Asp) c.3152T>A (p.Val1051Asp) | dbSNP |
| 4 | g.113333116T>C | CA357936076 | ANK2 | c.3428T>C (p.Val1143Ala) c.3368T>C (p.Val1123Ala) n.1470T>C n.924T>C n.132T>C n.6550T>C n.4924T>C n.44T>C n.903T>C n.2300T>C n.1667T>C n.1013T>C n.1431T>C n.1882T>C c.3287T>C (p.Val1096Ala) c.3125T>C (p.Val1042Ala) c.674T>C (p.Val225Ala) c.3101T>C (p.Val1034Ala) c.3188T>C (p.Val1063Ala) c.3323T>C (p.Val1108Ala) c.3224T>C (p.Val1075Ala) c.3161T>C (p.Val1054Ala) c.3026T>C (p.Val1009Ala) c.3104T>C (p.Val1035Ala) c.2903T>C (p.Val968Ala) c.3002T>C (p.Val1001Ala) c.3332T>C (p.Val1111Ala) c.3137T>C (p.Val1046Ala) c.3110T>C (p.Val1037Ala) c.3089T>C (p.Val1030Ala) c.3062T>C (p.Val1021Ala) c.3260T>C (p.Val1087Ala) c.851T>C (p.Val284Ala) c.2705T>C (p.Val902Ala) c.815T>C (p.Val272Ala) c.3233T>C (p.Val1078Ala) c.3086T>C (p.Val1029Ala) c.2795T>C (p.Val932Ala) c.2945T>C (p.Val982Ala) n.135T>C c.324T>C c.3200T>C (p.Val1067Ala) c.3320T>C (p.Val1107Ala) c.3284T>C (p.Val1095Ala) c.3374T>C (p.Val1125Ala) c.3338T>C (p.Val1113Ala) c.3314T>C (p.Val1105Ala) c.3359T>C (p.Val1120Ala) c.3299T>C (p.Val1100Ala) c.3266T>C (p.Val1089Ala) c.3329T>C (p.Val1110Ala) c.3185T>C (p.Val1062Ala) c.3365T>C (p.Val1122Ala) c.3257T>C (p.Val1086Ala) c.3221T>C (p.Val1074Ala) c.3236T>C (p.Val1079Ala) c.3146T>C (p.Val1049Ala) c.3074T>C (p.Val1025Ala) c.3158T>C (p.Val1053Ala) c.2987T>C (p.Val996Ala) c.3404T>C (p.Val1135Ala) c.3290T>C (p.Val1097Ala) c.3272T>C (p.Val1091Ala) c.3344T>C (p.Val1115Ala) c.2804T>C (p.Val935Ala) c.3131T>C (p.Val1044Ala) c.3152T>C (p.Val1051Ala) | ClinVar dbSNP gnomAD v4 |
| 4 | g.113333116T>G | CA357936075 | ANK2 | c.3428T>G (p.Val1143Gly) c.3368T>G (p.Val1123Gly) n.1470T>G n.924T>G n.132T>G n.6550T>G n.4924T>G n.44T>G n.903T>G n.2300T>G n.1667T>G n.1013T>G n.1431T>G n.1882T>G c.3287T>G (p.Val1096Gly) c.3125T>G (p.Val1042Gly) c.674T>G (p.Val225Gly) c.3101T>G (p.Val1034Gly) c.3188T>G (p.Val1063Gly) c.3323T>G (p.Val1108Gly) c.3224T>G (p.Val1075Gly) c.3161T>G (p.Val1054Gly) c.3026T>G (p.Val1009Gly) c.3104T>G (p.Val1035Gly) c.2903T>G (p.Val968Gly) c.3002T>G (p.Val1001Gly) c.3332T>G (p.Val1111Gly) c.3137T>G (p.Val1046Gly) c.3110T>G (p.Val1037Gly) c.3089T>G (p.Val1030Gly) c.3062T>G (p.Val1021Gly) c.3260T>G (p.Val1087Gly) c.851T>G (p.Val284Gly) c.2705T>G (p.Val902Gly) c.815T>G (p.Val272Gly) c.3233T>G (p.Val1078Gly) c.3086T>G (p.Val1029Gly) c.2795T>G (p.Val932Gly) c.2945T>G (p.Val982Gly) n.135T>G c.324T>G c.3200T>G (p.Val1067Gly) c.3320T>G (p.Val1107Gly) c.3284T>G (p.Val1095Gly) c.3374T>G (p.Val1125Gly) c.3338T>G (p.Val1113Gly) c.3314T>G (p.Val1105Gly) c.3359T>G (p.Val1120Gly) c.3299T>G (p.Val1100Gly) c.3266T>G (p.Val1089Gly) c.3329T>G (p.Val1110Gly) c.3185T>G (p.Val1062Gly) c.3365T>G (p.Val1122Gly) c.3257T>G (p.Val1086Gly) c.3221T>G (p.Val1074Gly) c.3236T>G (p.Val1079Gly) c.3146T>G (p.Val1049Gly) c.3074T>G (p.Val1025Gly) c.3158T>G (p.Val1053Gly) c.2987T>G (p.Val996Gly) c.3404T>G (p.Val1135Gly) c.3290T>G (p.Val1097Gly) c.3272T>G (p.Val1091Gly) c.3344T>G (p.Val1115Gly) c.2804T>G (p.Val935Gly) c.3131T>G (p.Val1044Gly) c.3152T>G (p.Val1051Gly) | dbSNP |
| 4 | g.113333117C>A | CA440842850 | ANK2 | c.3429C>A (p.Val1143=) c.3369C>A (p.Val1123=) n.1471C>A n.925C>A n.133C>A n.6551C>A n.4925C>A n.45C>A n.904C>A n.2301C>A n.1668C>A n.1014C>A n.1432C>A n.1883C>A c.3288C>A (p.Val1096=) c.3126C>A (p.Val1042=) c.675C>A (p.Val225=) c.3102C>A (p.Val1034=) c.3189C>A (p.Val1063=) c.3324C>A (p.Val1108=) c.3225C>A (p.Val1075=) c.3162C>A (p.Val1054=) c.3027C>A (p.Val1009=) c.3105C>A (p.Val1035=) c.2904C>A (p.Val968=) c.3003C>A (p.Val1001=) c.3333C>A (p.Val1111=) c.3138C>A (p.Val1046=) c.3111C>A (p.Val1037=) c.3090C>A (p.Val1030=) c.3063C>A (p.Val1021=) c.3261C>A (p.Val1087=) c.852C>A (p.Val284=) c.2706C>A (p.Val902=) c.816C>A (p.Val272=) c.3234C>A (p.Val1078=) c.3087C>A (p.Val1029=) c.2796C>A (p.Val932=) c.2946C>A (p.Val982=) n.136C>A c.325C>A c.3201C>A (p.Val1067=) c.3321C>A (p.Val1107=) c.3285C>A (p.Val1095=) c.3375C>A (p.Val1125=) c.3339C>A (p.Val1113=) c.3315C>A (p.Val1105=) c.3360C>A (p.Val1120=) c.3300C>A (p.Val1100=) c.3267C>A (p.Val1089=) c.3330C>A (p.Val1110=) c.3186C>A (p.Val1062=) c.3366C>A (p.Val1122=) c.3258C>A (p.Val1086=) c.3222C>A (p.Val1074=) c.3237C>A (p.Val1079=) c.3147C>A (p.Val1049=) c.3075C>A (p.Val1025=) c.3159C>A (p.Val1053=) c.2988C>A (p.Val996=) c.3405C>A (p.Val1135=) c.3291C>A (p.Val1097=) c.3273C>A (p.Val1091=) c.3345C>A (p.Val1115=) c.2805C>A (p.Val935=) c.3132C>A (p.Val1044=) c.3153C>A (p.Val1051=) | dbSNP |
| 4 | g.113333117C>G | CA440842851 | ANK2 | c.3429C>G (p.Val1143=) c.3369C>G (p.Val1123=) n.1471C>G n.925C>G n.133C>G n.6551C>G n.4925C>G n.45C>G n.904C>G n.2301C>G n.1668C>G n.1014C>G n.1432C>G n.1883C>G c.3288C>G (p.Val1096=) c.3126C>G (p.Val1042=) c.675C>G (p.Val225=) c.3102C>G (p.Val1034=) c.3189C>G (p.Val1063=) c.3324C>G (p.Val1108=) c.3225C>G (p.Val1075=) c.3162C>G (p.Val1054=) c.3027C>G (p.Val1009=) c.3105C>G (p.Val1035=) c.2904C>G (p.Val968=) c.3003C>G (p.Val1001=) c.3333C>G (p.Val1111=) c.3138C>G (p.Val1046=) c.3111C>G (p.Val1037=) c.3090C>G (p.Val1030=) c.3063C>G (p.Val1021=) c.3261C>G (p.Val1087=) c.852C>G (p.Val284=) c.2706C>G (p.Val902=) c.816C>G (p.Val272=) c.3234C>G (p.Val1078=) c.3087C>G (p.Val1029=) c.2796C>G (p.Val932=) c.2946C>G (p.Val982=) n.136C>G c.325C>G c.3201C>G (p.Val1067=) c.3321C>G (p.Val1107=) c.3285C>G (p.Val1095=) c.3375C>G (p.Val1125=) c.3339C>G (p.Val1113=) c.3315C>G (p.Val1105=) c.3360C>G (p.Val1120=) c.3300C>G (p.Val1100=) c.3267C>G (p.Val1089=) c.3330C>G (p.Val1110=) c.3186C>G (p.Val1062=) c.3366C>G (p.Val1122=) c.3258C>G (p.Val1086=) c.3222C>G (p.Val1074=) c.3237C>G (p.Val1079=) c.3147C>G (p.Val1049=) c.3075C>G (p.Val1025=) c.3159C>G (p.Val1053=) c.2988C>G (p.Val996=) c.3405C>G (p.Val1135=) c.3291C>G (p.Val1097=) c.3273C>G (p.Val1091=) c.3345C>G (p.Val1115=) c.2805C>G (p.Val935=) c.3132C>G (p.Val1044=) c.3153C>G (p.Val1051=) | dbSNP |
| 4 | g.113333117C>T | CA440842852 | ANK2 | c.3429C>T (p.Val1143=) c.3369C>T (p.Val1123=) n.1471C>T n.925C>T n.133C>T n.6551C>T n.4925C>T n.45C>T n.904C>T n.2301C>T n.1668C>T n.1014C>T n.1432C>T n.1883C>T c.3288C>T (p.Val1096=) c.3126C>T (p.Val1042=) c.675C>T (p.Val225=) c.3102C>T (p.Val1034=) c.3189C>T (p.Val1063=) c.3324C>T (p.Val1108=) c.3225C>T (p.Val1075=) c.3162C>T (p.Val1054=) c.3027C>T (p.Val1009=) c.3105C>T (p.Val1035=) c.2904C>T (p.Val968=) c.3003C>T (p.Val1001=) c.3333C>T (p.Val1111=) c.3138C>T (p.Val1046=) c.3111C>T (p.Val1037=) c.3090C>T (p.Val1030=) c.3063C>T (p.Val1021=) c.3261C>T (p.Val1087=) c.852C>T (p.Val284=) c.2706C>T (p.Val902=) c.816C>T (p.Val272=) c.3234C>T (p.Val1078=) c.3087C>T (p.Val1029=) c.2796C>T (p.Val932=) c.2946C>T (p.Val982=) n.136C>T c.325C>T c.3201C>T (p.Val1067=) c.3321C>T (p.Val1107=) c.3285C>T (p.Val1095=) c.3375C>T (p.Val1125=) c.3339C>T (p.Val1113=) c.3315C>T (p.Val1105=) c.3360C>T (p.Val1120=) c.3300C>T (p.Val1100=) c.3267C>T (p.Val1089=) c.3330C>T (p.Val1110=) c.3186C>T (p.Val1062=) c.3366C>T (p.Val1122=) c.3258C>T (p.Val1086=) c.3222C>T (p.Val1074=) c.3237C>T (p.Val1079=) c.3147C>T (p.Val1049=) c.3075C>T (p.Val1025=) c.3159C>T (p.Val1053=) c.2988C>T (p.Val996=) c.3405C>T (p.Val1135=) c.3291C>T (p.Val1097=) c.3273C>T (p.Val1091=) c.3345C>T (p.Val1115=) c.2805C>T (p.Val935=) c.3132C>T (p.Val1044=) c.3153C>T (p.Val1051=) | dbSNP gnomAD v4 |
| 4 | g.113333118C>A | CA357936078 | ANK2 | c.3430C>A (p.Leu1144Met) c.3370C>A (p.Leu1124Met) n.1472C>A n.926C>A n.134C>A n.6552C>A n.4926C>A n.46C>A n.905C>A n.2302C>A n.1669C>A n.1015C>A n.1433C>A n.1884C>A c.3289C>A (p.Leu1097Met) c.3127C>A (p.Leu1043Met) c.676C>A (p.Leu226Met) c.3103C>A (p.Leu1035Met) c.3190C>A (p.Leu1064Met) c.3325C>A (p.Leu1109Met) c.3226C>A (p.Leu1076Met) c.3163C>A (p.Leu1055Met) c.3028C>A (p.Leu1010Met) c.3106C>A (p.Leu1036Met) c.2905C>A (p.Leu969Met) c.3004C>A (p.Leu1002Met) c.3334C>A (p.Leu1112Met) c.3139C>A (p.Leu1047Met) c.3112C>A (p.Leu1038Met) c.3091C>A (p.Leu1031Met) c.3064C>A (p.Leu1022Met) c.3262C>A (p.Leu1088Met) c.853C>A (p.Leu285Met) c.2707C>A (p.Leu903Met) c.817C>A (p.Leu273Met) c.3235C>A (p.Leu1079Met) c.3088C>A (p.Leu1030Met) c.2797C>A (p.Leu933Met) c.2947C>A (p.Leu983Met) n.137C>A c.326C>A c.3202C>A (p.Leu1068Met) c.3322C>A (p.Leu1108Met) c.3286C>A (p.Leu1096Met) c.3376C>A (p.Leu1126Met) c.3340C>A (p.Leu1114Met) c.3316C>A (p.Leu1106Met) c.3361C>A (p.Leu1121Met) c.3301C>A (p.Leu1101Met) c.3268C>A (p.Leu1090Met) c.3331C>A (p.Leu1111Met) c.3187C>A (p.Leu1063Met) c.3367C>A (p.Leu1123Met) c.3259C>A (p.Leu1087Met) c.3223C>A (p.Leu1075Met) c.3238C>A (p.Leu1080Met) c.3148C>A (p.Leu1050Met) c.3076C>A (p.Leu1026Met) c.3160C>A (p.Leu1054Met) c.2989C>A (p.Leu997Met) c.3406C>A (p.Leu1136Met) c.3292C>A (p.Leu1098Met) c.3274C>A (p.Leu1092Met) c.3346C>A (p.Leu1116Met) c.2806C>A (p.Leu936Met) c.3133C>A (p.Leu1045Met) c.3154C>A (p.Leu1052Met) | dbSNP |
| 4 | g.113333118C>G | CA357936080 | ANK2 | c.3430C>G (p.Leu1144Val) c.3370C>G (p.Leu1124Val) n.1472C>G n.926C>G n.134C>G n.6552C>G n.4926C>G n.46C>G n.905C>G n.2302C>G n.1669C>G n.1015C>G n.1433C>G n.1884C>G c.3289C>G (p.Leu1097Val) c.3127C>G (p.Leu1043Val) c.676C>G (p.Leu226Val) c.3103C>G (p.Leu1035Val) c.3190C>G (p.Leu1064Val) c.3325C>G (p.Leu1109Val) c.3226C>G (p.Leu1076Val) c.3163C>G (p.Leu1055Val) c.3028C>G (p.Leu1010Val) c.3106C>G (p.Leu1036Val) c.2905C>G (p.Leu969Val) c.3004C>G (p.Leu1002Val) c.3334C>G (p.Leu1112Val) c.3139C>G (p.Leu1047Val) c.3112C>G (p.Leu1038Val) c.3091C>G (p.Leu1031Val) c.3064C>G (p.Leu1022Val) c.3262C>G (p.Leu1088Val) c.853C>G (p.Leu285Val) c.2707C>G (p.Leu903Val) c.817C>G (p.Leu273Val) c.3235C>G (p.Leu1079Val) c.3088C>G (p.Leu1030Val) c.2797C>G (p.Leu933Val) c.2947C>G (p.Leu983Val) n.137C>G c.326C>G c.3202C>G (p.Leu1068Val) c.3322C>G (p.Leu1108Val) c.3286C>G (p.Leu1096Val) c.3376C>G (p.Leu1126Val) c.3340C>G (p.Leu1114Val) c.3316C>G (p.Leu1106Val) c.3361C>G (p.Leu1121Val) c.3301C>G (p.Leu1101Val) c.3268C>G (p.Leu1090Val) c.3331C>G (p.Leu1111Val) c.3187C>G (p.Leu1063Val) c.3367C>G (p.Leu1123Val) c.3259C>G (p.Leu1087Val) c.3223C>G (p.Leu1075Val) c.3238C>G (p.Leu1080Val) c.3148C>G (p.Leu1050Val) c.3076C>G (p.Leu1026Val) c.3160C>G (p.Leu1054Val) c.2989C>G (p.Leu997Val) c.3406C>G (p.Leu1136Val) c.3292C>G (p.Leu1098Val) c.3274C>G (p.Leu1092Val) c.3346C>G (p.Leu1116Val) c.2806C>G (p.Leu936Val) c.3133C>G (p.Leu1045Val) c.3154C>G (p.Leu1052Val) | dbSNP |
| 4 | g.113333118C>T | CA440842853 | ANK2 | c.3430C>T (p.Leu1144=) c.3370C>T (p.Leu1124=) n.1472C>T n.926C>T n.134C>T n.6552C>T n.4926C>T n.46C>T n.905C>T n.2302C>T n.1669C>T n.1015C>T n.1433C>T n.1884C>T c.3289C>T (p.Leu1097=) c.3127C>T (p.Leu1043=) c.676C>T (p.Leu226=) c.3103C>T (p.Leu1035=) c.3190C>T (p.Leu1064=) c.3325C>T (p.Leu1109=) c.3226C>T (p.Leu1076=) c.3163C>T (p.Leu1055=) c.3028C>T (p.Leu1010=) c.3106C>T (p.Leu1036=) c.2905C>T (p.Leu969=) c.3004C>T (p.Leu1002=) c.3334C>T (p.Leu1112=) c.3139C>T (p.Leu1047=) c.3112C>T (p.Leu1038=) c.3091C>T (p.Leu1031=) c.3064C>T (p.Leu1022=) c.3262C>T (p.Leu1088=) c.853C>T (p.Leu285=) c.2707C>T (p.Leu903=) c.817C>T (p.Leu273=) c.3235C>T (p.Leu1079=) c.3088C>T (p.Leu1030=) c.2797C>T (p.Leu933=) c.2947C>T (p.Leu983=) n.137C>T c.326C>T c.3202C>T (p.Leu1068=) c.3322C>T (p.Leu1108=) c.3286C>T (p.Leu1096=) c.3376C>T (p.Leu1126=) c.3340C>T (p.Leu1114=) c.3316C>T (p.Leu1106=) c.3361C>T (p.Leu1121=) c.3301C>T (p.Leu1101=) c.3268C>T (p.Leu1090=) c.3331C>T (p.Leu1111=) c.3187C>T (p.Leu1063=) c.3367C>T (p.Leu1123=) c.3259C>T (p.Leu1087=) c.3223C>T (p.Leu1075=) c.3238C>T (p.Leu1080=) c.3148C>T (p.Leu1050=) c.3076C>T (p.Leu1026=) c.3160C>T (p.Leu1054=) c.2989C>T (p.Leu997=) c.3406C>T (p.Leu1136=) c.3292C>T (p.Leu1098=) c.3274C>T (p.Leu1092=) c.3346C>T (p.Leu1116=) c.2806C>T (p.Leu936=) c.3133C>T (p.Leu1045=) c.3154C>T (p.Leu1052=) | dbSNP COSMIC |
| 4 | g.113333119T>A | CA357936082 | ANK2 | c.3431T>A (p.Leu1144Gln) c.3371T>A (p.Leu1124Gln) n.1473T>A n.927T>A n.135T>A n.6553T>A n.4927T>A n.47T>A n.906T>A n.2303T>A n.1670T>A n.1016T>A n.1434T>A n.1885T>A c.3290T>A (p.Leu1097Gln) c.3128T>A (p.Leu1043Gln) c.677T>A (p.Leu226Gln) c.3104T>A (p.Leu1035Gln) c.3191T>A (p.Leu1064Gln) c.3326T>A (p.Leu1109Gln) c.3227T>A (p.Leu1076Gln) c.3164T>A (p.Leu1055Gln) c.3029T>A (p.Leu1010Gln) c.3107T>A (p.Leu1036Gln) c.2906T>A (p.Leu969Gln) c.3005T>A (p.Leu1002Gln) c.3335T>A (p.Leu1112Gln) c.3140T>A (p.Leu1047Gln) c.3113T>A (p.Leu1038Gln) c.3092T>A (p.Leu1031Gln) c.3065T>A (p.Leu1022Gln) c.3263T>A (p.Leu1088Gln) c.854T>A (p.Leu285Gln) c.2708T>A (p.Leu903Gln) c.818T>A (p.Leu273Gln) c.3236T>A (p.Leu1079Gln) c.3089T>A (p.Leu1030Gln) c.2798T>A (p.Leu933Gln) c.2948T>A (p.Leu983Gln) n.138T>A c.327T>A c.3203T>A (p.Leu1068Gln) c.3323T>A (p.Leu1108Gln) c.3287T>A (p.Leu1096Gln) c.3377T>A (p.Leu1126Gln) c.3341T>A (p.Leu1114Gln) c.3317T>A (p.Leu1106Gln) c.3362T>A (p.Leu1121Gln) c.3302T>A (p.Leu1101Gln) c.3269T>A (p.Leu1090Gln) c.3332T>A (p.Leu1111Gln) c.3188T>A (p.Leu1063Gln) c.3368T>A (p.Leu1123Gln) c.3260T>A (p.Leu1087Gln) c.3224T>A (p.Leu1075Gln) c.3239T>A (p.Leu1080Gln) c.3149T>A (p.Leu1050Gln) c.3077T>A (p.Leu1026Gln) c.3161T>A (p.Leu1054Gln) c.2990T>A (p.Leu997Gln) c.3407T>A (p.Leu1136Gln) c.3293T>A (p.Leu1098Gln) c.3275T>A (p.Leu1092Gln) c.3347T>A (p.Leu1116Gln) c.2807T>A (p.Leu936Gln) c.3134T>A (p.Leu1045Gln) c.3155T>A (p.Leu1052Gln) | dbSNP |
| 4 | g.113333119T>C | CA357936084 | ANK2 | c.3431T>C (p.Leu1144Pro) c.3371T>C (p.Leu1124Pro) n.1473T>C n.927T>C n.135T>C n.6553T>C n.4927T>C n.47T>C n.906T>C n.2303T>C n.1670T>C n.1016T>C n.1434T>C n.1885T>C c.3290T>C (p.Leu1097Pro) c.3128T>C (p.Leu1043Pro) c.677T>C (p.Leu226Pro) c.3104T>C (p.Leu1035Pro) c.3191T>C (p.Leu1064Pro) c.3326T>C (p.Leu1109Pro) c.3227T>C (p.Leu1076Pro) c.3164T>C (p.Leu1055Pro) c.3029T>C (p.Leu1010Pro) c.3107T>C (p.Leu1036Pro) c.2906T>C (p.Leu969Pro) c.3005T>C (p.Leu1002Pro) c.3335T>C (p.Leu1112Pro) c.3140T>C (p.Leu1047Pro) c.3113T>C (p.Leu1038Pro) c.3092T>C (p.Leu1031Pro) c.3065T>C (p.Leu1022Pro) c.3263T>C (p.Leu1088Pro) c.854T>C (p.Leu285Pro) c.2708T>C (p.Leu903Pro) c.818T>C (p.Leu273Pro) c.3236T>C (p.Leu1079Pro) c.3089T>C (p.Leu1030Pro) c.2798T>C (p.Leu933Pro) c.2948T>C (p.Leu983Pro) n.138T>C c.327T>C c.3203T>C (p.Leu1068Pro) c.3323T>C (p.Leu1108Pro) c.3287T>C (p.Leu1096Pro) c.3377T>C (p.Leu1126Pro) c.3341T>C (p.Leu1114Pro) c.3317T>C (p.Leu1106Pro) c.3362T>C (p.Leu1121Pro) c.3302T>C (p.Leu1101Pro) c.3269T>C (p.Leu1090Pro) c.3332T>C (p.Leu1111Pro) c.3188T>C (p.Leu1063Pro) c.3368T>C (p.Leu1123Pro) c.3260T>C (p.Leu1087Pro) c.3224T>C (p.Leu1075Pro) c.3239T>C (p.Leu1080Pro) c.3149T>C (p.Leu1050Pro) c.3077T>C (p.Leu1026Pro) c.3161T>C (p.Leu1054Pro) c.2990T>C (p.Leu997Pro) c.3407T>C (p.Leu1136Pro) c.3293T>C (p.Leu1098Pro) c.3275T>C (p.Leu1092Pro) c.3347T>C (p.Leu1116Pro) c.2807T>C (p.Leu936Pro) c.3134T>C (p.Leu1045Pro) c.3155T>C (p.Leu1052Pro) | dbSNP |
| 4 | g.113333119T>G | CA357936086 | ANK2 | c.3431T>G (p.Leu1144Arg) c.3371T>G (p.Leu1124Arg) n.1473T>G n.927T>G n.135T>G n.6553T>G n.4927T>G n.47T>G n.906T>G n.2303T>G n.1670T>G n.1016T>G n.1434T>G n.1885T>G c.3290T>G (p.Leu1097Arg) c.3128T>G (p.Leu1043Arg) c.677T>G (p.Leu226Arg) c.3104T>G (p.Leu1035Arg) c.3191T>G (p.Leu1064Arg) c.3326T>G (p.Leu1109Arg) c.3227T>G (p.Leu1076Arg) c.3164T>G (p.Leu1055Arg) c.3029T>G (p.Leu1010Arg) c.3107T>G (p.Leu1036Arg) c.2906T>G (p.Leu969Arg) c.3005T>G (p.Leu1002Arg) c.3335T>G (p.Leu1112Arg) c.3140T>G (p.Leu1047Arg) c.3113T>G (p.Leu1038Arg) c.3092T>G (p.Leu1031Arg) c.3065T>G (p.Leu1022Arg) c.3263T>G (p.Leu1088Arg) c.854T>G (p.Leu285Arg) c.2708T>G (p.Leu903Arg) c.818T>G (p.Leu273Arg) c.3236T>G (p.Leu1079Arg) c.3089T>G (p.Leu1030Arg) c.2798T>G (p.Leu933Arg) c.2948T>G (p.Leu983Arg) n.138T>G c.327T>G c.3203T>G (p.Leu1068Arg) c.3323T>G (p.Leu1108Arg) c.3287T>G (p.Leu1096Arg) c.3377T>G (p.Leu1126Arg) c.3341T>G (p.Leu1114Arg) c.3317T>G (p.Leu1106Arg) c.3362T>G (p.Leu1121Arg) c.3302T>G (p.Leu1101Arg) c.3269T>G (p.Leu1090Arg) c.3332T>G (p.Leu1111Arg) c.3188T>G (p.Leu1063Arg) c.3368T>G (p.Leu1123Arg) c.3260T>G (p.Leu1087Arg) c.3224T>G (p.Leu1075Arg) c.3239T>G (p.Leu1080Arg) c.3149T>G (p.Leu1050Arg) c.3077T>G (p.Leu1026Arg) c.3161T>G (p.Leu1054Arg) c.2990T>G (p.Leu997Arg) c.3407T>G (p.Leu1136Arg) c.3293T>G (p.Leu1098Arg) c.3275T>G (p.Leu1092Arg) c.3347T>G (p.Leu1116Arg) c.2807T>G (p.Leu936Arg) c.3134T>G (p.Leu1045Arg) c.3155T>G (p.Leu1052Arg) | |
| 4 | g.113333120G>A | CA440842854 | ANK2 | c.3432G>A (p.Leu1144=) c.3372G>A (p.Leu1124=) n.1474G>A n.928G>A n.136G>A n.6554G>A n.4928G>A n.48G>A n.907G>A n.2304G>A n.1671G>A n.1017G>A n.1435G>A n.1886G>A c.3291G>A (p.Leu1097=) c.3129G>A (p.Leu1043=) c.678G>A (p.Leu226=) c.3105G>A (p.Leu1035=) c.3192G>A (p.Leu1064=) c.3327G>A (p.Leu1109=) c.3228G>A (p.Leu1076=) c.3165G>A (p.Leu1055=) c.3030G>A (p.Leu1010=) c.3108G>A (p.Leu1036=) c.2907G>A (p.Leu969=) c.3006G>A (p.Leu1002=) c.3336G>A (p.Leu1112=) c.3141G>A (p.Leu1047=) c.3114G>A (p.Leu1038=) c.3093G>A (p.Leu1031=) c.3066G>A (p.Leu1022=) c.3264G>A (p.Leu1088=) c.855G>A (p.Leu285=) c.2709G>A (p.Leu903=) c.819G>A (p.Leu273=) c.3237G>A (p.Leu1079=) c.3090G>A (p.Leu1030=) c.2799G>A (p.Leu933=) c.2949G>A (p.Leu983=) n.139G>A c.328G>A c.3204G>A (p.Leu1068=) c.3324G>A (p.Leu1108=) c.3288G>A (p.Leu1096=) c.3378G>A (p.Leu1126=) c.3342G>A (p.Leu1114=) c.3318G>A (p.Leu1106=) c.3363G>A (p.Leu1121=) c.3303G>A (p.Leu1101=) c.3270G>A (p.Leu1090=) c.3333G>A (p.Leu1111=) c.3189G>A (p.Leu1063=) c.3369G>A (p.Leu1123=) c.3261G>A (p.Leu1087=) c.3225G>A (p.Leu1075=) c.3240G>A (p.Leu1080=) c.3150G>A (p.Leu1050=) c.3078G>A (p.Leu1026=) c.3162G>A (p.Leu1054=) c.2991G>A (p.Leu997=) c.3408G>A (p.Leu1136=) c.3294G>A (p.Leu1098=) c.3276G>A (p.Leu1092=) c.3348G>A (p.Leu1116=) c.2808G>A (p.Leu936=) c.3135G>A (p.Leu1045=) c.3156G>A (p.Leu1052=) | dbSNP |
| 4 | g.113333120G>C | CA440842855 | ANK2 | c.3432G>C (p.Leu1144=) c.3372G>C (p.Leu1124=) n.1474G>C n.928G>C n.136G>C n.6554G>C n.4928G>C n.48G>C n.907G>C n.2304G>C n.1671G>C n.1017G>C n.1435G>C n.1886G>C c.3291G>C (p.Leu1097=) c.3129G>C (p.Leu1043=) c.678G>C (p.Leu226=) c.3105G>C (p.Leu1035=) c.3192G>C (p.Leu1064=) c.3327G>C (p.Leu1109=) c.3228G>C (p.Leu1076=) c.3165G>C (p.Leu1055=) c.3030G>C (p.Leu1010=) c.3108G>C (p.Leu1036=) c.2907G>C (p.Leu969=) c.3006G>C (p.Leu1002=) c.3336G>C (p.Leu1112=) c.3141G>C (p.Leu1047=) c.3114G>C (p.Leu1038=) c.3093G>C (p.Leu1031=) c.3066G>C (p.Leu1022=) c.3264G>C (p.Leu1088=) c.855G>C (p.Leu285=) c.2709G>C (p.Leu903=) c.819G>C (p.Leu273=) c.3237G>C (p.Leu1079=) c.3090G>C (p.Leu1030=) c.2799G>C (p.Leu933=) c.2949G>C (p.Leu983=) n.139G>C c.328G>C c.3204G>C (p.Leu1068=) c.3324G>C (p.Leu1108=) c.3288G>C (p.Leu1096=) c.3378G>C (p.Leu1126=) c.3342G>C (p.Leu1114=) c.3318G>C (p.Leu1106=) c.3363G>C (p.Leu1121=) c.3303G>C (p.Leu1101=) c.3270G>C (p.Leu1090=) c.3333G>C (p.Leu1111=) c.3189G>C (p.Leu1063=) c.3369G>C (p.Leu1123=) c.3261G>C (p.Leu1087=) c.3225G>C (p.Leu1075=) c.3240G>C (p.Leu1080=) c.3150G>C (p.Leu1050=) c.3078G>C (p.Leu1026=) c.3162G>C (p.Leu1054=) c.2991G>C (p.Leu997=) c.3408G>C (p.Leu1136=) c.3294G>C (p.Leu1098=) c.3276G>C (p.Leu1092=) c.3348G>C (p.Leu1116=) c.2808G>C (p.Leu936=) c.3135G>C (p.Leu1045=) c.3156G>C (p.Leu1052=) | dbSNP |
| 4 | g.113333120G>T | CA440842856 | ANK2 | c.3432G>T (p.Leu1144=) c.3372G>T (p.Leu1124=) n.1474G>T n.928G>T n.136G>T n.6554G>T n.4928G>T n.48G>T n.907G>T n.2304G>T n.1671G>T n.1017G>T n.1435G>T n.1886G>T c.3291G>T (p.Leu1097=) c.3129G>T (p.Leu1043=) c.678G>T (p.Leu226=) c.3105G>T (p.Leu1035=) c.3192G>T (p.Leu1064=) c.3327G>T (p.Leu1109=) c.3228G>T (p.Leu1076=) c.3165G>T (p.Leu1055=) c.3030G>T (p.Leu1010=) c.3108G>T (p.Leu1036=) c.2907G>T (p.Leu969=) c.3006G>T (p.Leu1002=) c.3336G>T (p.Leu1112=) c.3141G>T (p.Leu1047=) c.3114G>T (p.Leu1038=) c.3093G>T (p.Leu1031=) c.3066G>T (p.Leu1022=) c.3264G>T (p.Leu1088=) c.855G>T (p.Leu285=) c.2709G>T (p.Leu903=) c.819G>T (p.Leu273=) c.3237G>T (p.Leu1079=) c.3090G>T (p.Leu1030=) c.2799G>T (p.Leu933=) c.2949G>T (p.Leu983=) n.139G>T c.328G>T c.3204G>T (p.Leu1068=) c.3324G>T (p.Leu1108=) c.3288G>T (p.Leu1096=) c.3378G>T (p.Leu1126=) c.3342G>T (p.Leu1114=) c.3318G>T (p.Leu1106=) c.3363G>T (p.Leu1121=) c.3303G>T (p.Leu1101=) c.3270G>T (p.Leu1090=) c.3333G>T (p.Leu1111=) c.3189G>T (p.Leu1063=) c.3369G>T (p.Leu1123=) c.3261G>T (p.Leu1087=) c.3225G>T (p.Leu1075=) c.3240G>T (p.Leu1080=) c.3150G>T (p.Leu1050=) c.3078G>T (p.Leu1026=) c.3162G>T (p.Leu1054=) c.2991G>T (p.Leu997=) c.3408G>T (p.Leu1136=) c.3294G>T (p.Leu1098=) c.3276G>T (p.Leu1092=) c.3348G>T (p.Leu1116=) c.2808G>T (p.Leu936=) c.3135G>T (p.Leu1045=) c.3156G>T (p.Leu1052=) | |
| 4 | g.113333121C>A | CA357936088 | ANK2 | c.3433C>A (p.Arg1145Ser) c.3373C>A (p.Arg1125Ser) n.1475C>A n.929C>A n.137C>A n.6555C>A n.4929C>A n.49C>A n.908C>A n.2305C>A n.1672C>A n.1018C>A n.1436C>A n.1887C>A c.3292C>A (p.Arg1098Ser) c.3130C>A (p.Arg1044Ser) c.679C>A (p.Arg227Ser) c.3106C>A (p.Arg1036Ser) c.3193C>A (p.Arg1065Ser) c.3328C>A (p.Arg1110Ser) c.3229C>A (p.Arg1077Ser) c.3166C>A (p.Arg1056Ser) c.3031C>A (p.Arg1011Ser) c.3109C>A (p.Arg1037Ser) c.2908C>A (p.Arg970Ser) c.3007C>A (p.Arg1003Ser) c.3337C>A (p.Arg1113Ser) c.3142C>A (p.Arg1048Ser) c.3115C>A (p.Arg1039Ser) c.3094C>A (p.Arg1032Ser) c.3067C>A (p.Arg1023Ser) c.3265C>A (p.Arg1089Ser) c.856C>A (p.Arg286Ser) c.2710C>A (p.Arg904Ser) c.820C>A (p.Arg274Ser) c.3238C>A (p.Arg1080Ser) c.3091C>A (p.Arg1031Ser) c.2800C>A (p.Arg934Ser) c.2950C>A (p.Arg984Ser) n.140C>A c.329C>A c.3205C>A (p.Arg1069Ser) c.3325C>A (p.Arg1109Ser) c.3289C>A (p.Arg1097Ser) c.3379C>A (p.Arg1127Ser) c.3343C>A (p.Arg1115Ser) c.3319C>A (p.Arg1107Ser) c.3364C>A (p.Arg1122Ser) c.3304C>A (p.Arg1102Ser) c.3271C>A (p.Arg1091Ser) c.3334C>A (p.Arg1112Ser) c.3190C>A (p.Arg1064Ser) c.3370C>A (p.Arg1124Ser) c.3262C>A (p.Arg1088Ser) c.3226C>A (p.Arg1076Ser) c.3241C>A (p.Arg1081Ser) c.3151C>A (p.Arg1051Ser) c.3079C>A (p.Arg1027Ser) c.3163C>A (p.Arg1055Ser) c.2992C>A (p.Arg998Ser) c.3409C>A (p.Arg1137Ser) c.3295C>A (p.Arg1099Ser) c.3277C>A (p.Arg1093Ser) c.3349C>A (p.Arg1117Ser) c.2809C>A (p.Arg937Ser) c.3136C>A (p.Arg1046Ser) c.3157C>A (p.Arg1053Ser) | dbSNP gnomAD v4 |
| 4 | g.113333121C>G | CA357936090 | ANK2 | c.3433C>G (p.Arg1145Gly) c.3373C>G (p.Arg1125Gly) n.1475C>G n.929C>G n.137C>G n.6555C>G n.4929C>G n.49C>G n.908C>G n.2305C>G n.1672C>G n.1018C>G n.1436C>G n.1887C>G c.3292C>G (p.Arg1098Gly) c.3130C>G (p.Arg1044Gly) c.679C>G (p.Arg227Gly) c.3106C>G (p.Arg1036Gly) c.3193C>G (p.Arg1065Gly) c.3328C>G (p.Arg1110Gly) c.3229C>G (p.Arg1077Gly) c.3166C>G (p.Arg1056Gly) c.3031C>G (p.Arg1011Gly) c.3109C>G (p.Arg1037Gly) c.2908C>G (p.Arg970Gly) c.3007C>G (p.Arg1003Gly) c.3337C>G (p.Arg1113Gly) c.3142C>G (p.Arg1048Gly) c.3115C>G (p.Arg1039Gly) c.3094C>G (p.Arg1032Gly) c.3067C>G (p.Arg1023Gly) c.3265C>G (p.Arg1089Gly) c.856C>G (p.Arg286Gly) c.2710C>G (p.Arg904Gly) c.820C>G (p.Arg274Gly) c.3238C>G (p.Arg1080Gly) c.3091C>G (p.Arg1031Gly) c.2800C>G (p.Arg934Gly) c.2950C>G (p.Arg984Gly) n.140C>G c.329C>G c.3205C>G (p.Arg1069Gly) c.3325C>G (p.Arg1109Gly) c.3289C>G (p.Arg1097Gly) c.3379C>G (p.Arg1127Gly) c.3343C>G (p.Arg1115Gly) c.3319C>G (p.Arg1107Gly) c.3364C>G (p.Arg1122Gly) c.3304C>G (p.Arg1102Gly) c.3271C>G (p.Arg1091Gly) c.3334C>G (p.Arg1112Gly) c.3190C>G (p.Arg1064Gly) c.3370C>G (p.Arg1124Gly) c.3262C>G (p.Arg1088Gly) c.3226C>G (p.Arg1076Gly) c.3241C>G (p.Arg1081Gly) c.3151C>G (p.Arg1051Gly) c.3079C>G (p.Arg1027Gly) c.3163C>G (p.Arg1055Gly) c.2992C>G (p.Arg998Gly) c.3409C>G (p.Arg1137Gly) c.3295C>G (p.Arg1099Gly) c.3277C>G (p.Arg1093Gly) c.3349C>G (p.Arg1117Gly) c.2809C>G (p.Arg937Gly) c.3136C>G (p.Arg1046Gly) c.3157C>G (p.Arg1053Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.113333121C>T | CA3050817 | ANK2 | c.3433C>T (p.Arg1145Cys) c.3373C>T (p.Arg1125Cys) n.1475C>T n.929C>T n.137C>T n.6555C>T n.4929C>T n.49C>T n.908C>T n.2305C>T n.1672C>T n.1018C>T n.1436C>T n.1887C>T c.3292C>T (p.Arg1098Cys) c.3130C>T (p.Arg1044Cys) c.679C>T (p.Arg227Cys) c.3106C>T (p.Arg1036Cys) c.3193C>T (p.Arg1065Cys) c.3328C>T (p.Arg1110Cys) c.3229C>T (p.Arg1077Cys) c.3166C>T (p.Arg1056Cys) c.3031C>T (p.Arg1011Cys) c.3109C>T (p.Arg1037Cys) c.2908C>T (p.Arg970Cys) c.3007C>T (p.Arg1003Cys) c.3337C>T (p.Arg1113Cys) c.3142C>T (p.Arg1048Cys) c.3115C>T (p.Arg1039Cys) c.3094C>T (p.Arg1032Cys) c.3067C>T (p.Arg1023Cys) c.3265C>T (p.Arg1089Cys) c.856C>T (p.Arg286Cys) c.2710C>T (p.Arg904Cys) c.820C>T (p.Arg274Cys) c.3238C>T (p.Arg1080Cys) c.3091C>T (p.Arg1031Cys) c.2800C>T (p.Arg934Cys) c.2950C>T (p.Arg984Cys) n.140C>T c.329C>T c.3205C>T (p.Arg1069Cys) c.3325C>T (p.Arg1109Cys) c.3289C>T (p.Arg1097Cys) c.3379C>T (p.Arg1127Cys) c.3343C>T (p.Arg1115Cys) c.3319C>T (p.Arg1107Cys) c.3364C>T (p.Arg1122Cys) c.3304C>T (p.Arg1102Cys) c.3271C>T (p.Arg1091Cys) c.3334C>T (p.Arg1112Cys) c.3190C>T (p.Arg1064Cys) c.3370C>T (p.Arg1124Cys) c.3262C>T (p.Arg1088Cys) c.3226C>T (p.Arg1076Cys) c.3241C>T (p.Arg1081Cys) c.3151C>T (p.Arg1051Cys) c.3079C>T (p.Arg1027Cys) c.3163C>T (p.Arg1055Cys) c.2992C>T (p.Arg998Cys) c.3409C>T (p.Arg1137Cys) c.3295C>T (p.Arg1099Cys) c.3277C>T (p.Arg1093Cys) c.3349C>T (p.Arg1117Cys) c.2809C>T (p.Arg937Cys) c.3136C>T (p.Arg1046Cys) c.3157C>T (p.Arg1053Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 4 | g.113333122G>A | CA3050818 | ANK2 | c.3434G>A (p.Arg1145His) c.3374G>A (p.Arg1125His) n.1476G>A n.930G>A n.138G>A n.6556G>A n.4930G>A n.50G>A n.909G>A n.2306G>A n.1673G>A n.1019G>A n.1437G>A n.1888G>A c.3293G>A (p.Arg1098His) c.3131G>A (p.Arg1044His) c.680G>A (p.Arg227His) c.3107G>A (p.Arg1036His) c.3194G>A (p.Arg1065His) c.3329G>A (p.Arg1110His) c.3230G>A (p.Arg1077His) c.3167G>A (p.Arg1056His) c.3032G>A (p.Arg1011His) c.3110G>A (p.Arg1037His) c.2909G>A (p.Arg970His) c.3008G>A (p.Arg1003His) c.3338G>A (p.Arg1113His) c.3143G>A (p.Arg1048His) c.3116G>A (p.Arg1039His) c.3095G>A (p.Arg1032His) c.3068G>A (p.Arg1023His) c.3266G>A (p.Arg1089His) c.857G>A (p.Arg286His) c.2711G>A (p.Arg904His) c.821G>A (p.Arg274His) c.3239G>A (p.Arg1080His) c.3092G>A (p.Arg1031His) c.2801G>A (p.Arg934His) c.2951G>A (p.Arg984His) n.141G>A c.330G>A c.3206G>A (p.Arg1069His) c.3326G>A (p.Arg1109His) c.3290G>A (p.Arg1097His) c.3380G>A (p.Arg1127His) c.3344G>A (p.Arg1115His) c.3320G>A (p.Arg1107His) c.3365G>A (p.Arg1122His) c.3305G>A (p.Arg1102His) c.3272G>A (p.Arg1091His) c.3335G>A (p.Arg1112His) c.3191G>A (p.Arg1064His) c.3371G>A (p.Arg1124His) c.3263G>A (p.Arg1088His) c.3227G>A (p.Arg1076His) c.3242G>A (p.Arg1081His) c.3152G>A (p.Arg1051His) c.3080G>A (p.Arg1027His) c.3164G>A (p.Arg1055His) c.2993G>A (p.Arg998His) c.3410G>A (p.Arg1137His) c.3296G>A (p.Arg1099His) c.3278G>A (p.Arg1093His) c.3350G>A (p.Arg1117His) c.2810G>A (p.Arg937His) c.3137G>A (p.Arg1046His) c.3158G>A (p.Arg1053His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.113333122G>C | CA357936094 | ANK2 | c.3434G>C (p.Arg1145Pro) c.3374G>C (p.Arg1125Pro) n.1476G>C n.930G>C n.138G>C n.6556G>C n.4930G>C n.50G>C n.909G>C n.2306G>C n.1673G>C n.1019G>C n.1437G>C n.1888G>C c.3293G>C (p.Arg1098Pro) c.3131G>C (p.Arg1044Pro) c.680G>C (p.Arg227Pro) c.3107G>C (p.Arg1036Pro) c.3194G>C (p.Arg1065Pro) c.3329G>C (p.Arg1110Pro) c.3230G>C (p.Arg1077Pro) c.3167G>C (p.Arg1056Pro) c.3032G>C (p.Arg1011Pro) c.3110G>C (p.Arg1037Pro) c.2909G>C (p.Arg970Pro) c.3008G>C (p.Arg1003Pro) c.3338G>C (p.Arg1113Pro) c.3143G>C (p.Arg1048Pro) c.3116G>C (p.Arg1039Pro) c.3095G>C (p.Arg1032Pro) c.3068G>C (p.Arg1023Pro) c.3266G>C (p.Arg1089Pro) c.857G>C (p.Arg286Pro) c.2711G>C (p.Arg904Pro) c.821G>C (p.Arg274Pro) c.3239G>C (p.Arg1080Pro) c.3092G>C (p.Arg1031Pro) c.2801G>C (p.Arg934Pro) c.2951G>C (p.Arg984Pro) n.141G>C c.330G>C c.3206G>C (p.Arg1069Pro) c.3326G>C (p.Arg1109Pro) c.3290G>C (p.Arg1097Pro) c.3380G>C (p.Arg1127Pro) c.3344G>C (p.Arg1115Pro) c.3320G>C (p.Arg1107Pro) c.3365G>C (p.Arg1122Pro) c.3305G>C (p.Arg1102Pro) c.3272G>C (p.Arg1091Pro) c.3335G>C (p.Arg1112Pro) c.3191G>C (p.Arg1064Pro) c.3371G>C (p.Arg1124Pro) c.3263G>C (p.Arg1088Pro) c.3227G>C (p.Arg1076Pro) c.3242G>C (p.Arg1081Pro) c.3152G>C (p.Arg1051Pro) c.3080G>C (p.Arg1027Pro) c.3164G>C (p.Arg1055Pro) c.2993G>C (p.Arg998Pro) c.3410G>C (p.Arg1137Pro) c.3296G>C (p.Arg1099Pro) c.3278G>C (p.Arg1093Pro) c.3350G>C (p.Arg1117Pro) c.2810G>C (p.Arg937Pro) c.3137G>C (p.Arg1046Pro) c.3158G>C (p.Arg1053Pro) | dbSNP |
| 4 | g.113333122G>T | CA357936096 | ANK2 | c.3434G>T (p.Arg1145Leu) c.3374G>T (p.Arg1125Leu) n.1476G>T n.930G>T n.138G>T n.6556G>T n.4930G>T n.50G>T n.909G>T n.2306G>T n.1673G>T n.1019G>T n.1437G>T n.1888G>T c.3293G>T (p.Arg1098Leu) c.3131G>T (p.Arg1044Leu) c.680G>T (p.Arg227Leu) c.3107G>T (p.Arg1036Leu) c.3194G>T (p.Arg1065Leu) c.3329G>T (p.Arg1110Leu) c.3230G>T (p.Arg1077Leu) c.3167G>T (p.Arg1056Leu) c.3032G>T (p.Arg1011Leu) c.3110G>T (p.Arg1037Leu) c.2909G>T (p.Arg970Leu) c.3008G>T (p.Arg1003Leu) c.3338G>T (p.Arg1113Leu) c.3143G>T (p.Arg1048Leu) c.3116G>T (p.Arg1039Leu) c.3095G>T (p.Arg1032Leu) c.3068G>T (p.Arg1023Leu) c.3266G>T (p.Arg1089Leu) c.857G>T (p.Arg286Leu) c.2711G>T (p.Arg904Leu) c.821G>T (p.Arg274Leu) c.3239G>T (p.Arg1080Leu) c.3092G>T (p.Arg1031Leu) c.2801G>T (p.Arg934Leu) c.2951G>T (p.Arg984Leu) n.141G>T c.330G>T c.3206G>T (p.Arg1069Leu) c.3326G>T (p.Arg1109Leu) c.3290G>T (p.Arg1097Leu) c.3380G>T (p.Arg1127Leu) c.3344G>T (p.Arg1115Leu) c.3320G>T (p.Arg1107Leu) c.3365G>T (p.Arg1122Leu) c.3305G>T (p.Arg1102Leu) c.3272G>T (p.Arg1091Leu) c.3335G>T (p.Arg1112Leu) c.3191G>T (p.Arg1064Leu) c.3371G>T (p.Arg1124Leu) c.3263G>T (p.Arg1088Leu) c.3227G>T (p.Arg1076Leu) c.3242G>T (p.Arg1081Leu) c.3152G>T (p.Arg1051Leu) c.3080G>T (p.Arg1027Leu) c.3164G>T (p.Arg1055Leu) c.2993G>T (p.Arg998Leu) c.3410G>T (p.Arg1137Leu) c.3296G>T (p.Arg1099Leu) c.3278G>T (p.Arg1093Leu) c.3350G>T (p.Arg1117Leu) c.2810G>T (p.Arg937Leu) c.3137G>T (p.Arg1046Leu) c.3158G>T (p.Arg1053Leu) | |
| 4 | g.113333123C>A | CA440842857 | ANK2 | c.3435C>A (p.Arg1145=) c.3375C>A (p.Arg1125=) n.1477C>A n.931C>A n.139C>A n.6557C>A n.4931C>A n.51C>A n.910C>A n.2307C>A n.1674C>A n.1020C>A n.1438C>A n.1889C>A c.3294C>A (p.Arg1098=) c.3132C>A (p.Arg1044=) c.681C>A (p.Arg227=) c.3108C>A (p.Arg1036=) c.3195C>A (p.Arg1065=) c.3330C>A (p.Arg1110=) c.3231C>A (p.Arg1077=) c.3168C>A (p.Arg1056=) c.3033C>A (p.Arg1011=) c.3111C>A (p.Arg1037=) c.2910C>A (p.Arg970=) c.3009C>A (p.Arg1003=) c.3339C>A (p.Arg1113=) c.3144C>A (p.Arg1048=) c.3117C>A (p.Arg1039=) c.3096C>A (p.Arg1032=) c.3069C>A (p.Arg1023=) c.3267C>A (p.Arg1089=) c.858C>A (p.Arg286=) c.2712C>A (p.Arg904=) c.822C>A (p.Arg274=) c.3240C>A (p.Arg1080=) c.3093C>A (p.Arg1031=) c.2802C>A (p.Arg934=) c.2952C>A (p.Arg984=) n.142C>A c.331C>A c.3207C>A (p.Arg1069=) c.3327C>A (p.Arg1109=) c.3291C>A (p.Arg1097=) c.3381C>A (p.Arg1127=) c.3345C>A (p.Arg1115=) c.3321C>A (p.Arg1107=) c.3366C>A (p.Arg1122=) c.3306C>A (p.Arg1102=) c.3273C>A (p.Arg1091=) c.3336C>A (p.Arg1112=) c.3192C>A (p.Arg1064=) c.3372C>A (p.Arg1124=) c.3264C>A (p.Arg1088=) c.3228C>A (p.Arg1076=) c.3243C>A (p.Arg1081=) c.3153C>A (p.Arg1051=) c.3081C>A (p.Arg1027=) c.3165C>A (p.Arg1055=) c.2994C>A (p.Arg998=) c.3411C>A (p.Arg1137=) c.3297C>A (p.Arg1099=) c.3279C>A (p.Arg1093=) c.3351C>A (p.Arg1117=) c.2811C>A (p.Arg937=) c.3138C>A (p.Arg1046=) c.3159C>A (p.Arg1053=) | dbSNP |
| 4 | g.113333123C>G | CA440842859 | ANK2 | c.3435C>G (p.Arg1145=) c.3375C>G (p.Arg1125=) n.1477C>G n.931C>G n.139C>G n.6557C>G n.4931C>G n.51C>G n.910C>G n.2307C>G n.1674C>G n.1020C>G n.1438C>G n.1889C>G c.3294C>G (p.Arg1098=) c.3132C>G (p.Arg1044=) c.681C>G (p.Arg227=) c.3108C>G (p.Arg1036=) c.3195C>G (p.Arg1065=) c.3330C>G (p.Arg1110=) c.3231C>G (p.Arg1077=) c.3168C>G (p.Arg1056=) c.3033C>G (p.Arg1011=) c.3111C>G (p.Arg1037=) c.2910C>G (p.Arg970=) c.3009C>G (p.Arg1003=) c.3339C>G (p.Arg1113=) c.3144C>G (p.Arg1048=) c.3117C>G (p.Arg1039=) c.3096C>G (p.Arg1032=) c.3069C>G (p.Arg1023=) c.3267C>G (p.Arg1089=) c.858C>G (p.Arg286=) c.2712C>G (p.Arg904=) c.822C>G (p.Arg274=) c.3240C>G (p.Arg1080=) c.3093C>G (p.Arg1031=) c.2802C>G (p.Arg934=) c.2952C>G (p.Arg984=) n.142C>G c.331C>G c.3207C>G (p.Arg1069=) c.3327C>G (p.Arg1109=) c.3291C>G (p.Arg1097=) c.3381C>G (p.Arg1127=) c.3345C>G (p.Arg1115=) c.3321C>G (p.Arg1107=) c.3366C>G (p.Arg1122=) c.3306C>G (p.Arg1102=) c.3273C>G (p.Arg1091=) c.3336C>G (p.Arg1112=) c.3192C>G (p.Arg1064=) c.3372C>G (p.Arg1124=) c.3264C>G (p.Arg1088=) c.3228C>G (p.Arg1076=) c.3243C>G (p.Arg1081=) c.3153C>G (p.Arg1051=) c.3081C>G (p.Arg1027=) c.3165C>G (p.Arg1055=) c.2994C>G (p.Arg998=) c.3411C>G (p.Arg1137=) c.3297C>G (p.Arg1099=) c.3279C>G (p.Arg1093=) c.3351C>G (p.Arg1117=) c.2811C>G (p.Arg937=) c.3138C>G (p.Arg1046=) c.3159C>G (p.Arg1053=) | dbSNP |
| 4 | g.113333123C>T | CA440842858 | ANK2 | c.3435C>T (p.Arg1145=) c.3375C>T (p.Arg1125=) n.1477C>T n.931C>T n.139C>T n.6557C>T n.4931C>T n.51C>T n.910C>T n.2307C>T n.1674C>T n.1020C>T n.1438C>T n.1889C>T c.3294C>T (p.Arg1098=) c.3132C>T (p.Arg1044=) c.681C>T (p.Arg227=) c.3108C>T (p.Arg1036=) c.3195C>T (p.Arg1065=) c.3330C>T (p.Arg1110=) c.3231C>T (p.Arg1077=) c.3168C>T (p.Arg1056=) c.3033C>T (p.Arg1011=) c.3111C>T (p.Arg1037=) c.2910C>T (p.Arg970=) c.3009C>T (p.Arg1003=) c.3339C>T (p.Arg1113=) c.3144C>T (p.Arg1048=) c.3117C>T (p.Arg1039=) c.3096C>T (p.Arg1032=) c.3069C>T (p.Arg1023=) c.3267C>T (p.Arg1089=) c.858C>T (p.Arg286=) c.2712C>T (p.Arg904=) c.822C>T (p.Arg274=) c.3240C>T (p.Arg1080=) c.3093C>T (p.Arg1031=) c.2802C>T (p.Arg934=) c.2952C>T (p.Arg984=) n.142C>T c.331C>T c.3207C>T (p.Arg1069=) c.3327C>T (p.Arg1109=) c.3291C>T (p.Arg1097=) c.3381C>T (p.Arg1127=) c.3345C>T (p.Arg1115=) c.3321C>T (p.Arg1107=) c.3366C>T (p.Arg1122=) c.3306C>T (p.Arg1102=) c.3273C>T (p.Arg1091=) c.3336C>T (p.Arg1112=) c.3192C>T (p.Arg1064=) c.3372C>T (p.Arg1124=) c.3264C>T (p.Arg1088=) c.3228C>T (p.Arg1076=) c.3243C>T (p.Arg1081=) c.3153C>T (p.Arg1051=) c.3081C>T (p.Arg1027=) c.3165C>T (p.Arg1055=) c.2994C>T (p.Arg998=) c.3411C>T (p.Arg1137=) c.3297C>T (p.Arg1099=) c.3279C>T (p.Arg1093=) c.3351C>T (p.Arg1117=) c.2811C>T (p.Arg937=) c.3138C>T (p.Arg1046=) c.3159C>T (p.Arg1053=) | ClinVar dbSNP gnomAD v4 |
| 4 | g.113333124A>C | CA3050819 | ANK2 | c.3436A>C (p.Ser1146Arg) c.3376A>C (p.Ser1126Arg) n.1478A>C n.932A>C n.140A>C n.6558A>C n.4932A>C n.52A>C n.911A>C n.2308A>C n.1675A>C n.1021A>C n.1439A>C n.1890A>C c.3295A>C (p.Ser1099Arg) c.3133A>C (p.Ser1045Arg) c.682A>C (p.Ser228Arg) c.3109A>C (p.Ser1037Arg) c.3196A>C (p.Ser1066Arg) c.3331A>C (p.Ser1111Arg) c.3232A>C (p.Ser1078Arg) c.3169A>C (p.Ser1057Arg) c.3034A>C (p.Ser1012Arg) c.3112A>C (p.Ser1038Arg) c.2911A>C (p.Ser971Arg) c.3010A>C (p.Ser1004Arg) c.3340A>C (p.Ser1114Arg) c.3145A>C (p.Ser1049Arg) c.3118A>C (p.Ser1040Arg) c.3097A>C (p.Ser1033Arg) c.3070A>C (p.Ser1024Arg) c.3268A>C (p.Ser1090Arg) c.859A>C (p.Ser287Arg) c.2713A>C (p.Ser905Arg) c.823A>C (p.Ser275Arg) c.3241A>C (p.Ser1081Arg) c.3094A>C (p.Ser1032Arg) c.2803A>C (p.Ser935Arg) c.2953A>C (p.Ser985Arg) n.143A>C c.332A>C c.3208A>C (p.Ser1070Arg) c.3328A>C (p.Ser1110Arg) c.3292A>C (p.Ser1098Arg) c.3382A>C (p.Ser1128Arg) c.3346A>C (p.Ser1116Arg) c.3322A>C (p.Ser1108Arg) c.3367A>C (p.Ser1123Arg) c.3307A>C (p.Ser1103Arg) c.3274A>C (p.Ser1092Arg) c.3337A>C (p.Ser1113Arg) c.3193A>C (p.Ser1065Arg) c.3373A>C (p.Ser1125Arg) c.3265A>C (p.Ser1089Arg) c.3229A>C (p.Ser1077Arg) c.3244A>C (p.Ser1082Arg) c.3154A>C (p.Ser1052Arg) c.3082A>C (p.Ser1028Arg) c.3166A>C (p.Ser1056Arg) c.2995A>C (p.Ser999Arg) c.3412A>C (p.Ser1138Arg) c.3298A>C (p.Ser1100Arg) c.3280A>C (p.Ser1094Arg) c.3352A>C (p.Ser1118Arg) c.2812A>C (p.Ser938Arg) c.3139A>C (p.Ser1047Arg) c.3160A>C (p.Ser1054Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.113333124A>G | CA357936100 | ANK2 | c.3436A>G (p.Ser1146Gly) c.3376A>G (p.Ser1126Gly) n.1478A>G n.932A>G n.140A>G n.6558A>G n.4932A>G n.52A>G n.911A>G n.2308A>G n.1675A>G n.1021A>G n.1439A>G n.1890A>G c.3295A>G (p.Ser1099Gly) c.3133A>G (p.Ser1045Gly) c.682A>G (p.Ser228Gly) c.3109A>G (p.Ser1037Gly) c.3196A>G (p.Ser1066Gly) c.3331A>G (p.Ser1111Gly) c.3232A>G (p.Ser1078Gly) c.3169A>G (p.Ser1057Gly) c.3034A>G (p.Ser1012Gly) c.3112A>G (p.Ser1038Gly) c.2911A>G (p.Ser971Gly) c.3010A>G (p.Ser1004Gly) c.3340A>G (p.Ser1114Gly) c.3145A>G (p.Ser1049Gly) c.3118A>G (p.Ser1040Gly) c.3097A>G (p.Ser1033Gly) c.3070A>G (p.Ser1024Gly) c.3268A>G (p.Ser1090Gly) c.859A>G (p.Ser287Gly) c.2713A>G (p.Ser905Gly) c.823A>G (p.Ser275Gly) c.3241A>G (p.Ser1081Gly) c.3094A>G (p.Ser1032Gly) c.2803A>G (p.Ser935Gly) c.2953A>G (p.Ser985Gly) n.143A>G c.332A>G c.3208A>G (p.Ser1070Gly) c.3328A>G (p.Ser1110Gly) c.3292A>G (p.Ser1098Gly) c.3382A>G (p.Ser1128Gly) c.3346A>G (p.Ser1116Gly) c.3322A>G (p.Ser1108Gly) c.3367A>G (p.Ser1123Gly) c.3307A>G (p.Ser1103Gly) c.3274A>G (p.Ser1092Gly) c.3337A>G (p.Ser1113Gly) c.3193A>G (p.Ser1065Gly) c.3373A>G (p.Ser1125Gly) c.3265A>G (p.Ser1089Gly) c.3229A>G (p.Ser1077Gly) c.3244A>G (p.Ser1082Gly) c.3154A>G (p.Ser1052Gly) c.3082A>G (p.Ser1028Gly) c.3166A>G (p.Ser1056Gly) c.2995A>G (p.Ser999Gly) c.3412A>G (p.Ser1138Gly) c.3298A>G (p.Ser1100Gly) c.3280A>G (p.Ser1094Gly) c.3352A>G (p.Ser1118Gly) c.2812A>G (p.Ser938Gly) c.3139A>G (p.Ser1047Gly) c.3160A>G (p.Ser1054Gly) | |
| 4 | g.113333124A>T | CA357936098 | ANK2 | c.3436A>T (p.Ser1146Cys) c.3376A>T (p.Ser1126Cys) n.1478A>T n.932A>T n.140A>T n.6558A>T n.4932A>T n.52A>T n.911A>T n.2308A>T n.1675A>T n.1021A>T n.1439A>T n.1890A>T c.3295A>T (p.Ser1099Cys) c.3133A>T (p.Ser1045Cys) c.682A>T (p.Ser228Cys) c.3109A>T (p.Ser1037Cys) c.3196A>T (p.Ser1066Cys) c.3331A>T (p.Ser1111Cys) c.3232A>T (p.Ser1078Cys) c.3169A>T (p.Ser1057Cys) c.3034A>T (p.Ser1012Cys) c.3112A>T (p.Ser1038Cys) c.2911A>T (p.Ser971Cys) c.3010A>T (p.Ser1004Cys) c.3340A>T (p.Ser1114Cys) c.3145A>T (p.Ser1049Cys) c.3118A>T (p.Ser1040Cys) c.3097A>T (p.Ser1033Cys) c.3070A>T (p.Ser1024Cys) c.3268A>T (p.Ser1090Cys) c.859A>T (p.Ser287Cys) c.2713A>T (p.Ser905Cys) c.823A>T (p.Ser275Cys) c.3241A>T (p.Ser1081Cys) c.3094A>T (p.Ser1032Cys) c.2803A>T (p.Ser935Cys) c.2953A>T (p.Ser985Cys) n.143A>T c.332A>T c.3208A>T (p.Ser1070Cys) c.3328A>T (p.Ser1110Cys) c.3292A>T (p.Ser1098Cys) c.3382A>T (p.Ser1128Cys) c.3346A>T (p.Ser1116Cys) c.3322A>T (p.Ser1108Cys) c.3367A>T (p.Ser1123Cys) c.3307A>T (p.Ser1103Cys) c.3274A>T (p.Ser1092Cys) c.3337A>T (p.Ser1113Cys) c.3193A>T (p.Ser1065Cys) c.3373A>T (p.Ser1125Cys) c.3265A>T (p.Ser1089Cys) c.3229A>T (p.Ser1077Cys) c.3244A>T (p.Ser1082Cys) c.3154A>T (p.Ser1052Cys) c.3082A>T (p.Ser1028Cys) c.3166A>T (p.Ser1056Cys) c.2995A>T (p.Ser999Cys) c.3412A>T (p.Ser1138Cys) c.3298A>T (p.Ser1100Cys) c.3280A>T (p.Ser1094Cys) c.3352A>T (p.Ser1118Cys) c.2812A>T (p.Ser938Cys) c.3139A>T (p.Ser1047Cys) c.3160A>T (p.Ser1054Cys) | |
| 4 | g.113333125G>A | CA357936102 | ANK2 | c.3437G>A (p.Ser1146Asn) c.3377G>A (p.Ser1126Asn) n.1479G>A n.933G>A n.141G>A n.6559G>A n.4933G>A n.53G>A n.912G>A n.2309G>A n.1676G>A n.1022G>A n.1440G>A n.1891G>A c.3296G>A (p.Ser1099Asn) c.3134G>A (p.Ser1045Asn) c.683G>A (p.Ser228Asn) c.3110G>A (p.Ser1037Asn) c.3197G>A (p.Ser1066Asn) c.3332G>A (p.Ser1111Asn) c.3233G>A (p.Ser1078Asn) c.3170G>A (p.Ser1057Asn) c.3035G>A (p.Ser1012Asn) c.3113G>A (p.Ser1038Asn) c.2912G>A (p.Ser971Asn) c.3011G>A (p.Ser1004Asn) c.3341G>A (p.Ser1114Asn) c.3146G>A (p.Ser1049Asn) c.3119G>A (p.Ser1040Asn) c.3098G>A (p.Ser1033Asn) c.3071G>A (p.Ser1024Asn) c.3269G>A (p.Ser1090Asn) c.860G>A (p.Ser287Asn) c.2714G>A (p.Ser905Asn) c.824G>A (p.Ser275Asn) c.3242G>A (p.Ser1081Asn) c.3095G>A (p.Ser1032Asn) c.2804G>A (p.Ser935Asn) c.2954G>A (p.Ser985Asn) n.144G>A c.333G>A c.3209G>A (p.Ser1070Asn) c.3329G>A (p.Ser1110Asn) c.3293G>A (p.Ser1098Asn) c.3383G>A (p.Ser1128Asn) c.3347G>A (p.Ser1116Asn) c.3323G>A (p.Ser1108Asn) c.3368G>A (p.Ser1123Asn) c.3308G>A (p.Ser1103Asn) c.3275G>A (p.Ser1092Asn) c.3338G>A (p.Ser1113Asn) c.3194G>A (p.Ser1065Asn) c.3374G>A (p.Ser1125Asn) c.3266G>A (p.Ser1089Asn) c.3230G>A (p.Ser1077Asn) c.3245G>A (p.Ser1082Asn) c.3155G>A (p.Ser1052Asn) c.3083G>A (p.Ser1028Asn) c.3167G>A (p.Ser1056Asn) c.2996G>A (p.Ser999Asn) c.3413G>A (p.Ser1138Asn) c.3299G>A (p.Ser1100Asn) c.3281G>A (p.Ser1094Asn) c.3353G>A (p.Ser1118Asn) c.2813G>A (p.Ser938Asn) c.3140G>A (p.Ser1047Asn) c.3161G>A (p.Ser1054Asn) | ClinVar dbSNP |