Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.49216472C>A | CA412964054 | CACNA1F | c.3146G>T (p.Arg1049Leu) c.2984G>T (p.Arg995Leu) c.3179G>T (p.Arg1060Leu) c.413G>T (p.Arg138Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
X | g.49216472C= | CA2428539736 | CACNA1F | c.3146G= (p.Arg1049=) c.2984G= (p.Arg995=) c.3179G= (p.Arg1060=) c.413G= (p.Arg138=) | |
X | g.49216472C>G | CA412964055 | CACNA1F | c.3146G>C (p.Arg1049Pro) c.2984G>C (p.Arg995Pro) c.3179G>C (p.Arg1060Pro) c.413G>C (p.Arg138Pro) | gnomAD v4 |
X | g.49216472C>T | CA10410520 | CACNA1F | c.3146G>A (p.Arg1049Gln) c.2984G>A (p.Arg995Gln) c.3179G>A (p.Arg1060Gln) c.413G>A (p.Arg138Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
X | g.49216473G>A | CA412964056 | CACNA1F | c.3145C>T (p.Arg1049Trp) c.2983C>T (p.Arg995Trp) c.3178C>T (p.Arg1060Trp) c.412C>T (p.Arg138Trp) | ClinVar dbSNP gnomAD v4 COSMIC |
X | g.49216473G>C | CA412964057 | CACNA1F | c.3145C>G (p.Arg1049Gly) c.2983C>G (p.Arg995Gly) c.3178C>G (p.Arg1060Gly) c.412C>G (p.Arg138Gly) | |
X | g.49216473G>T | CA516377323 | CACNA1F | c.3145C>A (p.Arg1049=) c.2983C>A (p.Arg995=) c.3178C>A (p.Arg1060=) c.412C>A (p.Arg138=) | gnomAD v4 |
X | g.49216474C>A | CA412964059 | CACNA1F | c.3144G>T (p.Glu1048Asp) c.2982G>T (p.Glu994Asp) c.3177G>T (p.Glu1059Asp) c.411G>T (p.Glu137Asp) | dbSNP gnomAD v4 |
X | g.49216474C= | CA2428539737 | CACNA1F | c.3144G= (p.Glu1048=) c.2982G= (p.Glu994=) c.3177G= (p.Glu1059=) c.411G= (p.Glu137=) | |
X | g.49216474C>G | CA412964058 | CACNA1F | c.3144G>C (p.Glu1048Asp) c.2982G>C (p.Glu994Asp) c.3177G>C (p.Glu1059Asp) c.411G>C (p.Glu137Asp) | |
X | g.49216474C>T | CA516377324 | CACNA1F | c.3144G>A (p.Glu1048=) c.2982G>A (p.Glu994=) c.3177G>A (p.Glu1059=) c.411G>A (p.Glu137=) | COSMIC |
X | g.49216475T>A | CA412964060 | CACNA1F | c.3143A>T (p.Glu1048Val) c.2981A>T (p.Glu994Val) c.3176A>T (p.Glu1059Val) c.410A>T (p.Glu137Val) | |
X | g.49216475T>C | CA412964061 | CACNA1F | c.3143A>G (p.Glu1048Gly) c.2981A>G (p.Glu994Gly) c.3176A>G (p.Glu1059Gly) c.410A>G (p.Glu137Gly) | |
X | g.49216475T>G | CA412964062 | CACNA1F | c.3143A>C (p.Glu1048Ala) c.2981A>C (p.Glu994Ala) c.3176A>C (p.Glu1059Ala) c.410A>C (p.Glu137Ala) | |
X | g.49216476C>A | CA412964063 | CACNA1F | c.3142G>T (p.Glu1048Ter) c.2980G>T (p.Glu994Ter) c.3175G>T (p.Glu1059Ter) c.409G>T (p.Glu137Ter) | |
X | g.49216476C>G | CA412964064 | CACNA1F | c.3142G>C (p.Glu1048Gln) c.2980G>C (p.Glu994Gln) c.3175G>C (p.Glu1059Gln) c.409G>C (p.Glu137Gln) | |
X | g.49216476C>T | CA412964065 | CACNA1F | c.3142G>A (p.Glu1048Lys) c.2980G>A (p.Glu994Lys) c.3175G>A (p.Glu1059Lys) c.409G>A (p.Glu137Lys) | |
X | g.49216477C>A | CA516377325 | CACNA1F | c.3141G>T (p.Arg1047=) c.2979G>T (p.Arg993=) c.3174G>T (p.Arg1058=) c.408G>T (p.Arg136=) | |
X | g.49216477C>G | CA516377326 | CACNA1F | c.3141G>C (p.Arg1047=) c.2979G>C (p.Arg993=) c.3174G>C (p.Arg1058=) c.408G>C (p.Arg136=) | |
X | g.49216477C>T | CA516377327 | CACNA1F | c.3141G>A (p.Arg1047=) c.2979G>A (p.Arg993=) c.3174G>A (p.Arg1058=) c.408G>A (p.Arg136=) | |
X | g.49216478C>A | CA412964067 | CACNA1F | c.3140G>T (p.Arg1047Leu) c.2978G>T (p.Arg993Leu) c.3173G>T (p.Arg1058Leu) c.407G>T (p.Arg136Leu) | |
X | g.49216478C= | CA2428539738 | CACNA1F | c.3140G= (p.Arg1047=) c.2978G= (p.Arg993=) c.3173G= (p.Arg1058=) c.407G= (p.Arg136=) | |
X | g.49216478C>G | CA412964066 | CACNA1F | c.3140G>C (p.Arg1047Pro) c.2978G>C (p.Arg993Pro) c.3173G>C (p.Arg1058Pro) c.407G>C (p.Arg136Pro) | |
X | g.49216478C>T | CA10410521 | CACNA1F | c.3140G>A (p.Arg1047Gln) c.2978G>A (p.Arg993Gln) c.3173G>A (p.Arg1058Gln) c.407G>A (p.Arg136Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.49216479G>A | CA10410522 | CACNA1F | c.3139C>T (p.Arg1047Trp) c.2977C>T (p.Arg993Trp) c.3172C>T (p.Arg1058Trp) c.406C>T (p.Arg136Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49216479G>C | CA412964068 | CACNA1F | c.3139C>G (p.Arg1047Gly) c.2977C>G (p.Arg993Gly) c.3172C>G (p.Arg1058Gly) c.406C>G (p.Arg136Gly) | |
X | g.49216479G= | CA2428539739 | CACNA1F | c.3139C= (p.Arg1047=) c.2977C= (p.Arg993=) c.3172C= (p.Arg1058=) c.406C= (p.Arg136=) | |
X | g.49216479G>T | CA516377328 | CACNA1F | c.3139C>A (p.Arg1047=) c.2977C>A (p.Arg993=) c.3172C>A (p.Arg1058=) c.406C>A (p.Arg136=) | |
X | g.49216480G>A | CA516377329 | CACNA1F | c.3138C>T (p.Val1046=) c.2976C>T (p.Val992=) c.3171C>T (p.Val1057=) c.405C>T (p.Val135=) | |
X | g.49216480G>C | CA516377330 | CACNA1F | c.3138C>G (p.Val1046=) c.2976C>G (p.Val992=) c.3171C>G (p.Val1057=) c.405C>G (p.Val135=) | |
X | g.49216480G>T | CA516377331 | CACNA1F | c.3138C>A (p.Val1046=) c.2976C>A (p.Val992=) c.3171C>A (p.Val1057=) c.405C>A (p.Val135=) | |
X | g.49216481A>C | CA412964069 | CACNA1F | c.3137T>G (p.Val1046Gly) c.2975T>G (p.Val992Gly) c.3170T>G (p.Val1057Gly) c.404T>G (p.Val135Gly) | |
X | g.49216481A>G | CA412964070 | CACNA1F | c.3137T>C (p.Val1046Ala) c.2975T>C (p.Val992Ala) c.3170T>C (p.Val1057Ala) c.404T>C (p.Val135Ala) | |
X | g.49216481A>T | CA412964071 | CACNA1F | c.3137T>A (p.Val1046Asp) c.2975T>A (p.Val992Asp) c.3170T>A (p.Val1057Asp) c.404T>A (p.Val135Asp) | |
X | g.49216482C>A | CA412964073 | CACNA1F | c.3136G>T (p.Val1046Phe) c.2974G>T (p.Val992Phe) c.3169G>T (p.Val1057Phe) c.403G>T (p.Val135Phe) | |
X | g.49216482C= | CA2428539740 | CACNA1F | c.3136G= (p.Val1046=) c.2974G= (p.Val992=) c.3169G= (p.Val1057=) c.403G= (p.Val135=) | |
X | g.49216482C>G | CA412964072 | CACNA1F | c.3136G>C (p.Val1046Leu) c.2974G>C (p.Val992Leu) c.3169G>C (p.Val1057Leu) c.403G>C (p.Val135Leu) | |
X | g.49216482C>T | CA10410523 | CACNA1F | c.3136G>A (p.Val1046Ile) c.2974G>A (p.Val992Ile) c.3169G>A (p.Val1057Ile) c.403G>A (p.Val135Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49216483C>A | CA516377333 | CACNA1F | c.3135G>T (p.Leu1045=) c.2973G>T (p.Leu991=) c.3168G>T (p.Leu1056=) c.402G>T (p.Leu134=) | |
X | g.49216483C= | CA2428539741 | CACNA1F | c.3135G= (p.Leu1045=) c.2973G= (p.Leu991=) c.3168G= (p.Leu1056=) c.402G= (p.Leu134=) | |
X | g.49216483C>G | CA516377332 | CACNA1F | c.3135G>C (p.Leu1045=) c.2973G>C (p.Leu991=) c.3168G>C (p.Leu1056=) c.402G>C (p.Leu134=) | |
X | g.49216483C>T | CA10410524 | CACNA1F | c.3135G>A (p.Leu1045=) c.2973G>A (p.Leu991=) c.3168G>A (p.Leu1056=) c.402G>A (p.Leu134=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49216484A= | CA2428539742 | CACNA1F | c.3134T= (p.Leu1045=) c.2972T= (p.Leu991=) c.3167T= (p.Leu1056=) c.401T= (p.Leu134=) | |
X | g.49216484A>C | CA412964074 | CACNA1F | c.3134T>G (p.Leu1045Arg) c.2972T>G (p.Leu991Arg) c.3167T>G (p.Leu1056Arg) c.401T>G (p.Leu134Arg) | |
X | g.49216484A>G | CA412964075 | CACNA1F | c.3134T>C (p.Leu1045Pro) c.2972T>C (p.Leu991Pro) c.3167T>C (p.Leu1056Pro) c.401T>C (p.Leu134Pro) | |
X | g.49216484A>T | CA412964076 | CACNA1F | c.3134T>A (p.Leu1045Gln) c.2972T>A (p.Leu991Gln) c.3167T>A (p.Leu1056Gln) c.401T>A (p.Leu134Gln) | |
X | g.49216485G>A | CA516377334 | CACNA1F | c.3133C>T (p.Leu1045=) c.2971C>T (p.Leu991=) c.3166C>T (p.Leu1056=) c.400C>T (p.Leu134=) | |
X | g.49216485G>C | CA10410525 | CACNA1F | c.3133C>G (p.Leu1045Val) c.2971C>G (p.Leu991Val) c.3166C>G (p.Leu1056Val) c.400C>G (p.Leu134Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49216485G= | CA2428539743 | CACNA1F | c.3133C= (p.Leu1045=) c.2971C= (p.Leu991=) c.3166C= (p.Leu1056=) c.400C= (p.Leu134=) | |
X | g.49216485G>T | CA412964077 | CACNA1F | c.3133C>A (p.Leu1045Met) c.2971C>A (p.Leu991Met) c.3166C>A (p.Leu1056Met) c.400C>A (p.Leu134Met) | |
X | g.49216488dup | CA342081 | CACNA1F | c.3133dup (p.Leu1045ProfsTer11) c.2971dup (p.Leu991ProfsTer11) c.3166dup (p.Leu1056ProfsTer11) c.400dup (p.Leu134ProfsTer11) | ClinVar dbSNP gnomAD v4 |
X | g.49216488del | CA2579607588 | CACNA1F | c.3133del (p.Leu1045TrpfsTer21) c.2971del (p.Leu991TrpfsTer21) c.3166del (p.Leu1056TrpfsTer21) c.400del (p.Leu134TrpfsTer21) | |
X | g.49216486G>A | CA516377335 | CACNA1F | c.3132C>T (p.Pro1044=) c.2970C>T (p.Pro990=) c.3165C>T (p.Pro1055=) c.399C>T (p.Pro133=) | gnomAD v4 |
X | g.49216486G>C | CA516377336 | CACNA1F | c.3132C>G (p.Pro1044=) c.2970C>G (p.Pro990=) c.3165C>G (p.Pro1055=) c.399C>G (p.Pro133=) | |
X | g.49216486G>T | CA516377337 | CACNA1F | c.3132C>A (p.Pro1044=) c.2970C>A (p.Pro990=) c.3165C>A (p.Pro1055=) c.399C>A (p.Pro133=) | |
X | g.49216487G>A | CA412964078 | CACNA1F | c.3131C>T (p.Pro1044Leu) c.2969C>T (p.Pro990Leu) c.3164C>T (p.Pro1055Leu) c.398C>T (p.Pro133Leu) | |
X | g.49216487G>C | CA412964079 | CACNA1F | c.3131C>G (p.Pro1044Arg) c.2969C>G (p.Pro990Arg) c.3164C>G (p.Pro1055Arg) c.398C>G (p.Pro133Arg) | |
X | g.49216487G>T | CA412964080 | CACNA1F | c.3131C>A (p.Pro1044His) c.2969C>A (p.Pro990His) c.3164C>A (p.Pro1055His) c.398C>A (p.Pro133His) | |
X | g.49216488G>A | CA412964081 | CACNA1F | c.3130C>T (p.Pro1044Ser) c.2968C>T (p.Pro990Ser) c.3163C>T (p.Pro1055Ser) c.397C>T (p.Pro133Ser) | |
X | g.49216488G>C | CA412964082 | CACNA1F | c.3130C>G (p.Pro1044Ala) c.2968C>G (p.Pro990Ala) c.3163C>G (p.Pro1055Ala) c.397C>G (p.Pro133Ala) | gnomAD v4 |
X | g.49216488G>T | CA412964083 | CACNA1F | c.3130C>A (p.Pro1044Thr) c.2968C>A (p.Pro990Thr) c.3163C>A (p.Pro1055Thr) c.397C>A (p.Pro133Thr) | |
X | g.49216489C>A | CA516377338 | CACNA1F | c.3129G>T (p.Arg1043=) c.2967G>T (p.Arg989=) c.3162G>T (p.Arg1054=) c.396G>T (p.Arg132=) | |
X | g.49216489C>G | CA516377339 | CACNA1F | c.3129G>C (p.Arg1043=) c.2967G>C (p.Arg989=) c.3162G>C (p.Arg1054=) c.396G>C (p.Arg132=) | |
X | g.49216489C>T | CA516377340 | CACNA1F | c.3129G>A (p.Arg1043=) c.2967G>A (p.Arg989=) c.3162G>A (p.Arg1054=) c.396G>A (p.Arg132=) | |
X | g.49216490C>A | CA412964084 | CACNA1F | c.3128G>T (p.Arg1043Leu) c.2966G>T (p.Arg989Leu) c.3161G>T (p.Arg1054Leu) c.395G>T (p.Arg132Leu) | |
X | g.49216490C= | CA2428539744 | CACNA1F | c.3128G= (p.Arg1043=) c.2966G= (p.Arg989=) c.3161G= (p.Arg1054=) c.395G= (p.Arg132=) | |
X | g.49216490C>G | CA412964085 | CACNA1F | c.3128G>C (p.Arg1043Pro) c.2966G>C (p.Arg989Pro) c.3161G>C (p.Arg1054Pro) c.395G>C (p.Arg132Pro) | |
X | g.49216490C>T | CA329140263 | CACNA1F | c.3128G>A (p.Arg1043Gln) c.2966G>A (p.Arg989Gln) c.3161G>A (p.Arg1054Gln) c.395G>A (p.Arg132Gln) | dbSNP gnomAD v2 |
X | g.49216491G>A | CA412964086 | CACNA1F | c.3127C>T (p.Arg1043Trp) c.2965C>T (p.Arg989Trp) c.3160C>T (p.Arg1054Trp) c.394C>T (p.Arg132Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
X | g.49216491G>C | CA412964087 | CACNA1F | c.3127C>G (p.Arg1043Gly) c.2965C>G (p.Arg989Gly) c.3160C>G (p.Arg1054Gly) c.394C>G (p.Arg132Gly) | |
X | g.49216491G= | CA2428539745 | CACNA1F | c.3127C= (p.Arg1043=) c.2965C= (p.Arg989=) c.3160C= (p.Arg1054=) c.394C= (p.Arg132=) | |
X | g.49216491G>T | CA516377341 | CACNA1F | c.3127C>A (p.Arg1043=) c.2965C>A (p.Arg989=) c.3160C>A (p.Arg1054=) c.394C>A (p.Arg132=) | |
X | g.49216492T>A | CA516377342 | CACNA1F | c.3126A>T (p.Ser1042=) c.2964A>T (p.Ser988=) c.3159A>T (p.Ser1053=) c.393A>T (p.Ser131=) | |
X | g.49216492T>C | CA516377343 | CACNA1F | c.3126A>G (p.Ser1042=) c.2964A>G (p.Ser988=) c.3159A>G (p.Ser1053=) c.393A>G (p.Ser131=) | |
X | g.49216492T>G | CA516377344 | CACNA1F | c.3126A>C (p.Ser1042=) c.2964A>C (p.Ser988=) c.3159A>C (p.Ser1053=) c.393A>C (p.Ser131=) | |
X | g.49216493G>A | CA412964088 | CACNA1F | c.3125C>T (p.Ser1042Leu) c.2963C>T (p.Ser988Leu) c.3158C>T (p.Ser1053Leu) c.392C>T (p.Ser131Leu) | |
X | g.49216493G>C | CA412964089 | CACNA1F | c.3125C>G (p.Ser1042Ter) c.2963C>G (p.Ser988Ter) c.3158C>G (p.Ser1053Ter) c.392C>G (p.Ser131Ter) | |
X | g.49216493G>T | CA412964090 | CACNA1F | c.3125C>A (p.Ser1042Ter) c.2963C>A (p.Ser988Ter) c.3158C>A (p.Ser1053Ter) c.392C>A (p.Ser131Ter) | |
X | g.49216494A>C | CA412964091 | CACNA1F | c.3124T>G (p.Ser1042Ala) c.2962T>G (p.Ser988Ala) c.3157T>G (p.Ser1053Ala) c.391T>G (p.Ser131Ala) | |
X | g.49216494A>G | CA412964092 | CACNA1F | c.3124T>C (p.Ser1042Pro) c.2962T>C (p.Ser988Pro) c.3157T>C (p.Ser1053Pro) c.391T>C (p.Ser131Pro) | |
X | g.49216494A>T | CA412964093 | CACNA1F | c.3124T>A (p.Ser1042Thr) c.2962T>A (p.Ser988Thr) c.3157T>A (p.Ser1053Thr) c.391T>A (p.Ser131Thr) | |
X | g.49216495C>A | CA516377345 | CACNA1F | c.3123G>T (p.Val1041=) c.2961G>T (p.Val987=) c.3156G>T (p.Val1052=) c.390G>T (p.Val130=) | |
X | g.49216495C>G | CA516377346 | CACNA1F | c.3123G>C (p.Val1041=) c.2961G>C (p.Val987=) c.3156G>C (p.Val1052=) c.390G>C (p.Val130=) | |
X | g.49216495C>T | CA516377347 | CACNA1F | c.3123G>A (p.Val1041=) c.2961G>A (p.Val987=) c.3156G>A (p.Val1052=) c.390G>A (p.Val130=) | |
X | g.49216496A>C | CA412964094 | CACNA1F | c.3122T>G (p.Val1041Gly) c.2960T>G (p.Val987Gly) c.3155T>G (p.Val1052Gly) c.389T>G (p.Val130Gly) | |
X | g.49216496A>G | CA412964095 | CACNA1F | c.3122T>C (p.Val1041Ala) c.2960T>C (p.Val987Ala) c.3155T>C (p.Val1052Ala) c.389T>C (p.Val130Ala) | |
X | g.49216496A>T | CA412964096 | CACNA1F | c.3122T>A (p.Val1041Glu) c.2960T>A (p.Val987Glu) c.3155T>A (p.Val1052Glu) c.389T>A (p.Val130Glu) | |
X | g.49216497C>A | CA412964097 | CACNA1F | c.3121G>T (p.Val1041Leu) c.2959G>T (p.Val987Leu) c.3154G>T (p.Val1052Leu) c.388G>T (p.Val130Leu) | |
X | g.49216497C= | CA2428539746 | CACNA1F | c.3121G= (p.Val1041=) c.2959G= (p.Val987=) c.3154G= (p.Val1052=) c.388G= (p.Val130=) | |
X | g.49216497C>G | CA412964098 | CACNA1F | c.3121G>C (p.Val1041Leu) c.2959G>C (p.Val987Leu) c.3154G>C (p.Val1052Leu) c.388G>C (p.Val130Leu) | |
X | g.49216497C>T | CA412964099 | CACNA1F | c.3121G>A (p.Val1041Met) c.2959G>A (p.Val987Met) c.3154G>A (p.Val1052Met) c.388G>A (p.Val130Met) | dbSNP gnomAD v4 |
X | g.49216498G>A | CA10410526 | CACNA1F | c.3120C>T (p.Asp1040=) c.2958C>T (p.Asp986=) c.3153C>T (p.Asp1051=) c.387C>T (p.Asp129=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49216498G>C | CA412964100 | CACNA1F | c.3120C>G (p.Asp1040Glu) c.2958C>G (p.Asp986Glu) c.3153C>G (p.Asp1051Glu) c.387C>G (p.Asp129Glu) | dbSNP gnomAD v4 |
X | g.49216498G= | CA2428539747 | CACNA1F | c.3120C= (p.Asp1040=) c.2958C= (p.Asp986=) c.3153C= (p.Asp1051=) c.387C= (p.Asp129=) | |
X | g.49216498G>T | CA412964101 | CACNA1F | c.3120C>A (p.Asp1040Glu) c.2958C>A (p.Asp986Glu) c.3153C>A (p.Asp1051Glu) c.387C>A (p.Asp129Glu) | gnomAD v4 |
X | g.49216499T>A | CA412964102 | CACNA1F | c.3119A>T (p.Asp1040Val) c.2957A>T (p.Asp986Val) c.3152A>T (p.Asp1051Val) c.386A>T (p.Asp129Val) | |
X | g.49216499T>C | CA412964103 | CACNA1F | c.3119A>G (p.Asp1040Gly) c.2957A>G (p.Asp986Gly) c.3152A>G (p.Asp1051Gly) c.386A>G (p.Asp129Gly) | gnomAD v4 |
X | g.49216499T>G | CA412964104 | CACNA1F | c.3119A>C (p.Asp1040Ala) c.2957A>C (p.Asp986Ala) c.3152A>C (p.Asp1051Ala) c.386A>C (p.Asp129Ala) | |
X | g.49216500C>A | CA412964105 | CACNA1F | c.3118G>T (p.Asp1040Tyr) c.2956G>T (p.Asp986Tyr) c.3151G>T (p.Asp1051Tyr) c.385G>T (p.Asp129Tyr) | |
X | g.49216500C>G | CA412964106 | CACNA1F | c.3118G>C (p.Asp1040His) c.2956G>C (p.Asp986His) c.3151G>C (p.Asp1051His) c.385G>C (p.Asp129His) | |
X | g.49216500C>T | CA412964107 | CACNA1F | c.3118G>A (p.Asp1040Asn) c.2956G>A (p.Asp986Asn) c.3151G>A (p.Asp1051Asn) c.385G>A (p.Asp129Asn) | |
X | g.49216501T>A | CA516377348 | CACNA1F | c.3117A>T (p.Gly1039=) c.2955A>T (p.Gly985=) c.3150A>T (p.Gly1050=) c.384A>T (p.Gly128=) | |
X | g.49216501T>C | CA516377349 | CACNA1F | c.3117A>G (p.Gly1039=) c.2955A>G (p.Gly985=) c.3150A>G (p.Gly1050=) c.384A>G (p.Gly128=) | |
X | g.49216501T>G | CA516377350 | CACNA1F | c.3117A>C (p.Gly1039=) c.2955A>C (p.Gly985=) c.3150A>C (p.Gly1050=) c.384A>C (p.Gly128=) | |
X | g.49216502C>A | CA412964108 | CACNA1F | c.3116G>T (p.Gly1039Val) c.2954G>T (p.Gly985Val) c.3149G>T (p.Gly1050Val) c.383G>T (p.Gly128Val) | gnomAD v4 |
X | g.49216502C>G | CA412964109 | CACNA1F | c.3116G>C (p.Gly1039Ala) c.2954G>C (p.Gly985Ala) c.3149G>C (p.Gly1050Ala) c.383G>C (p.Gly128Ala) | |
X | g.49216502C>T | CA412964110 | CACNA1F | c.3116G>A (p.Gly1039Glu) c.2954G>A (p.Gly985Glu) c.3149G>A (p.Gly1050Glu) c.383G>A (p.Gly128Glu) | COSMIC |
X | g.49216503C>A | CA412964111 | CACNA1F | c.3115G>T (p.Gly1039Ter) c.2953G>T (p.Gly985Ter) c.3148G>T (p.Gly1050Ter) c.382G>T (p.Gly128Ter) | |
X | g.49216503C>G | CA412964112 | CACNA1F | c.3115G>C (p.Gly1039Arg) c.2953G>C (p.Gly985Arg) c.3148G>C (p.Gly1050Arg) c.382G>C (p.Gly128Arg) | |
X | g.49216503C>T | CA412964113 | CACNA1F | c.3115G>A (p.Gly1039Arg) c.2953G>A (p.Gly985Arg) c.3148G>A (p.Gly1050Arg) c.382G>A (p.Gly128Arg) | |
X | g.49216504A= | CA2428539748 | CACNA1F | c.3114T= (p.Asp1038=) c.2952T= (p.Asp984=) c.3147T= (p.Asp1049=) c.381T= (p.Asp127=) | |
X | g.49216504A>C | CA412964114 | CACNA1F | c.3114T>G (p.Asp1038Glu) c.2952T>G (p.Asp984Glu) c.3147T>G (p.Asp1049Glu) c.381T>G (p.Asp127Glu) | gnomAD v4 |
X | g.49216504A>G | CA516377351 | CACNA1F | c.3114T>C (p.Asp1038=) c.2952T>C (p.Asp984=) c.3147T>C (p.Asp1049=) c.381T>C (p.Asp127=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49216504A>T | CA412964115 | CACNA1F | c.3114T>A (p.Asp1038Glu) c.2952T>A (p.Asp984Glu) c.3147T>A (p.Asp1049Glu) c.381T>A (p.Asp127Glu) | |
X | g.49216505T>A | CA412964116 | CACNA1F | c.3113A>T (p.Asp1038Val) c.2951A>T (p.Asp984Val) c.3146A>T (p.Asp1049Val) c.380A>T (p.Asp127Val) | |
X | g.49216505T>C | CA412964117 | CACNA1F | c.3113A>G (p.Asp1038Gly) c.2951A>G (p.Asp984Gly) c.3146A>G (p.Asp1049Gly) c.380A>G (p.Asp127Gly) | |
X | g.49216505T>G | CA412964118 | CACNA1F | c.3113A>C (p.Asp1038Ala) c.2951A>C (p.Asp984Ala) c.3146A>C (p.Asp1049Ala) c.380A>C (p.Asp127Ala) | |
X | g.49216506C>A | CA412964119 | CACNA1F | c.3112G>T (p.Asp1038Tyr) c.2950G>T (p.Asp984Tyr) c.3145G>T (p.Asp1049Tyr) c.379G>T (p.Asp127Tyr) | gnomAD v4 |
X | g.49216506C>G | CA412964120 | CACNA1F | c.3112G>C (p.Asp1038His) c.2950G>C (p.Asp984His) c.3145G>C (p.Asp1049His) c.379G>C (p.Asp127His) | |
X | g.49216506C>T | CA412964121 | CACNA1F | c.3112G>A (p.Asp1038Asn) c.2950G>A (p.Asp984Asn) c.3145G>A (p.Asp1049Asn) c.379G>A (p.Asp127Asn) | |
X | g.49216507T>A | CA516377353 | CACNA1F | c.3111A>T (p.Pro1037=) c.2949A>T (p.Pro983=) c.3144A>T (p.Pro1048=) c.378A>T (p.Pro126=) | |
X | g.49216507T>C | CA516377354 | CACNA1F | c.3111A>G (p.Pro1037=) c.2949A>G (p.Pro983=) c.3144A>G (p.Pro1048=) c.378A>G (p.Pro126=) | |
X | g.49216507T>G | CA516377352 | CACNA1F | c.3111A>C (p.Pro1037=) c.2949A>C (p.Pro983=) c.3144A>C (p.Pro1048=) c.378A>C (p.Pro126=) | |
X | g.49216508G>A | CA412964124 | CACNA1F | c.3110C>T (p.Pro1037Leu) c.2948C>T (p.Pro983Leu) c.3143C>T (p.Pro1048Leu) c.377C>T (p.Pro126Leu) | |
X | g.49216508G>C | CA412964122 | CACNA1F | c.3110C>G (p.Pro1037Arg) c.2948C>G (p.Pro983Arg) c.3143C>G (p.Pro1048Arg) c.377C>G (p.Pro126Arg) | |
X | g.49216508G>T | CA412964123 | CACNA1F | c.3110C>A (p.Pro1037Gln) c.2948C>A (p.Pro983Gln) c.3143C>A (p.Pro1048Gln) c.377C>A (p.Pro126Gln) | |
X | g.49216509G>A | CA412964125 | CACNA1F | c.3109C>T (p.Pro1037Ser) c.2947C>T (p.Pro983Ser) c.3142C>T (p.Pro1048Ser) c.376C>T (p.Pro126Ser) | |
X | g.49216509G>C | CA412964126 | CACNA1F | c.3109C>G (p.Pro1037Ala) c.2947C>G (p.Pro983Ala) c.3142C>G (p.Pro1048Ala) c.376C>G (p.Pro126Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49216509G= | CA2428539749 | CACNA1F | c.3109C= (p.Pro1037=) c.2947C= (p.Pro983=) c.3142C= (p.Pro1048=) c.376C= (p.Pro126=) | |
X | g.49216509G>T | CA412964127 | CACNA1F | c.3109C>A (p.Pro1037Thr) c.2947C>A (p.Pro983Thr) c.3142C>A (p.Pro1048Thr) c.376C>A (p.Pro126Thr) | gnomAD v4 |
X | g.49216510G>A | CA516377355 | CACNA1F | c.3108C>T (p.Tyr1036=) c.2946C>T (p.Tyr982=) c.3141C>T (p.Tyr1047=) c.375C>T (p.Tyr125=) | |
X | g.49216510G>C | CA412964128 | CACNA1F | c.3108C>G (p.Tyr1036Ter) c.2946C>G (p.Tyr982Ter) c.3141C>G (p.Tyr1047Ter) c.375C>G (p.Tyr125Ter) | gnomAD v4 |
X | g.49216510G>T | CA412964129 | CACNA1F | c.3108C>A (p.Tyr1036Ter) c.2946C>A (p.Tyr982Ter) c.3141C>A (p.Tyr1047Ter) c.375C>A (p.Tyr125Ter) | gnomAD v4 |
X | g.49216511T>A | CA412964130 | CACNA1F | c.3107A>T (p.Tyr1036Phe) c.2945A>T (p.Tyr982Phe) c.3140A>T (p.Tyr1047Phe) c.374A>T (p.Tyr125Phe) | |
X | g.49216511T>C | CA412964132 | CACNA1F | c.3107A>G (p.Tyr1036Cys) c.2945A>G (p.Tyr982Cys) c.3140A>G (p.Tyr1047Cys) c.374A>G (p.Tyr125Cys) | |
X | g.49216511T>G | CA412964131 | CACNA1F | c.3107A>C (p.Tyr1036Ser) c.2945A>C (p.Tyr982Ser) c.3140A>C (p.Tyr1047Ser) c.374A>C (p.Tyr125Ser) | |
X | g.49216512A= | CA2428539750 | CACNA1F | c.3106T= (p.Tyr1036=) c.2944T= (p.Tyr982=) c.3139T= (p.Tyr1047=) c.373T= (p.Tyr125=) | |
X | g.49216512A>C | CA412964133 | CACNA1F | c.3106T>G (p.Tyr1036Asp) c.2944T>G (p.Tyr982Asp) c.3139T>G (p.Tyr1047Asp) c.373T>G (p.Tyr125Asp) | |
X | g.49216512A>G | CA412964134 | CACNA1F | c.3106T>C (p.Tyr1036His) c.2944T>C (p.Tyr982His) c.3139T>C (p.Tyr1047His) c.373T>C (p.Tyr125His) | dbSNP gnomAD v2 gnomAD v4 |
X | g.49216512A>T | CA412964135 | CACNA1F | c.3106T>A (p.Tyr1036Asn) c.2944T>A (p.Tyr982Asn) c.3139T>A (p.Tyr1047Asn) c.373T>A (p.Tyr125Asn) | |
X | g.49216513T>A | CA516377356 | CACNA1F | c.3105A>T (p.Val1035=) c.2943A>T (p.Val981=) c.3138A>T (p.Val1046=) c.372A>T (p.Val124=) | |
X | g.49216513T>C | CA10410527 | CACNA1F | c.3105A>G (p.Val1035=) c.2943A>G (p.Val981=) c.3138A>G (p.Val1046=) c.372A>G (p.Val124=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49216513T>G | CA516377357 | CACNA1F | c.3105A>C (p.Val1035=) c.2943A>C (p.Val981=) c.3138A>C (p.Val1046=) c.372A>C (p.Val124=) | |
X | g.49216513T= | CA2428539751 | CACNA1F | c.3105A= (p.Val1035=) c.2943A= (p.Val981=) c.3138A= (p.Val1046=) c.372A= (p.Val124=) | |
X | g.49216514A>C | CA412964136 | CACNA1F | c.3104T>G (p.Val1035Gly) c.2942T>G (p.Val981Gly) c.3137T>G (p.Val1046Gly) c.371T>G (p.Val124Gly) | |
X | g.49216514A>G | CA412964137 | CACNA1F | c.3104T>C (p.Val1035Ala) c.2942T>C (p.Val981Ala) c.3137T>C (p.Val1046Ala) c.371T>C (p.Val124Ala) | |
X | g.49216514A>T | CA412964138 | CACNA1F | c.3104T>A (p.Val1035Glu) c.2942T>A (p.Val981Glu) c.3137T>A (p.Val1046Glu) c.371T>A (p.Val124Glu) | |
X | g.49216515C>A | CA412964139 | CACNA1F | c.3103G>T (p.Val1035Leu) c.2941G>T (p.Val981Leu) c.3136G>T (p.Val1046Leu) c.370G>T (p.Val124Leu) | ClinVar gnomAD v4 |
X | g.49216515C= | CA2428539752 | CACNA1F | c.3103G= (p.Val1035=) c.2941G= (p.Val981=) c.3136G= (p.Val1046=) c.370G= (p.Val124=) | |
X | g.49216515C>G | CA412964140 | CACNA1F | c.3103G>C (p.Val1035Leu) c.2941G>C (p.Val981Leu) c.3136G>C (p.Val1046Leu) c.370G>C (p.Val124Leu) | |
X | g.49216515C>T | CA412964141 | CACNA1F | c.3103G>A (p.Val1035Ile) c.2941G>A (p.Val981Ile) c.3136G>A (p.Val1046Ile) c.370G>A (p.Val124Ile) | dbSNP gnomAD v3 gnomAD v4 |
X | g.49216516C>A | CA516377358 | CACNA1F | c.3102G>T (p.Leu1034=) c.2940G>T (p.Leu980=) c.3135G>T (p.Leu1045=) c.369G>T (p.Leu123=) | |
X | g.49216516C= | CA2428539753 | CACNA1F | c.3102G= (p.Leu1034=) c.2940G= (p.Leu980=) c.3135G= (p.Leu1045=) c.369G= (p.Leu123=) | |
X | g.49216516C>G | CA516377359 | CACNA1F | c.3102G>C (p.Leu1034=) c.2940G>C (p.Leu980=) c.3135G>C (p.Leu1045=) c.369G>C (p.Leu123=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.49216516C>T | CA516377360 | CACNA1F | c.3102G>A (p.Leu1034=) c.2940G>A (p.Leu980=) c.3135G>A (p.Leu1045=) c.369G>A (p.Leu123=) | |
X | g.49216517A>C | CA412964144 | CACNA1F | c.3101T>G (p.Leu1034Arg) c.2939T>G (p.Leu980Arg) c.3134T>G (p.Leu1045Arg) c.368T>G (p.Leu123Arg) | |
X | g.49216517A>G | CA412964143 | CACNA1F | c.3101T>C (p.Leu1034Pro) c.2939T>C (p.Leu980Pro) c.3134T>C (p.Leu1045Pro) c.368T>C (p.Leu123Pro) | |
X | g.49216517A>T | CA412964142 | CACNA1F | c.3101T>A (p.Leu1034Gln) c.2939T>A (p.Leu980Gln) c.3134T>A (p.Leu1045Gln) c.368T>A (p.Leu123Gln) | |
X | g.49216518G>A | CA516377361 | CACNA1F | c.3100C>T (p.Leu1034=) c.2938C>T (p.Leu980=) c.3133C>T (p.Leu1045=) c.367C>T (p.Leu123=) | |
X | g.49216518G>C | CA412964145 | CACNA1F | c.3100C>G (p.Leu1034Val) c.2938C>G (p.Leu980Val) c.3133C>G (p.Leu1045Val) c.367C>G (p.Leu123Val) | |
X | g.49216518G= | CA2428539754 | CACNA1F | c.3100C= (p.Leu1034=) c.2938C= (p.Leu980=) c.3133C= (p.Leu1045=) c.367C= (p.Leu123=) | |
X | g.49216518G>T | CA412964146 | CACNA1F | c.3100C>A (p.Leu1034Met) c.2938C>A (p.Leu980Met) c.3133C>A (p.Leu1045Met) c.367C>A (p.Leu123Met) | dbSNP gnomAD v2 gnomAD v4 |
X | g.49216519G>A | CA516377362 | CACNA1F | c.3099C>T (p.Phe1033=) c.2937C>T (p.Phe979=) c.3132C>T (p.Phe1044=) c.366C>T (p.Phe122=) | dbSNP |
X | g.49216519G>C | CA412964147 | CACNA1F | c.3099C>G (p.Phe1033Leu) c.2937C>G (p.Phe979Leu) c.3132C>G (p.Phe1044Leu) c.366C>G (p.Phe122Leu) | |
X | g.49216519G= | CA2428539755 | CACNA1F | c.3099C= (p.Phe1033=) c.2937C= (p.Phe979=) c.3132C= (p.Phe1044=) c.366C= (p.Phe122=) | |
X | g.49216519G>T | CA412964148 | CACNA1F | c.3099C>A (p.Phe1033Leu) c.2937C>A (p.Phe979Leu) c.3132C>A (p.Phe1044Leu) c.366C>A (p.Phe122Leu) | |
X | g.49216520A>C | CA412964149 | CACNA1F | c.3098T>G (p.Phe1033Cys) c.2936T>G (p.Phe979Cys) c.3131T>G (p.Phe1044Cys) c.365T>G (p.Phe122Cys) | |
X | g.49216520A>G | CA412964151 | CACNA1F | c.3098T>C (p.Phe1033Ser) c.2936T>C (p.Phe979Ser) c.3131T>C (p.Phe1044Ser) c.365T>C (p.Phe122Ser) | |
X | g.49216520A>T | CA412964150 | CACNA1F | c.3098T>A (p.Phe1033Tyr) c.2936T>A (p.Phe979Tyr) c.3131T>A (p.Phe1044Tyr) c.365T>A (p.Phe122Tyr) | |
X | g.49216521del | CA2579607589 | CACNA1F | c.3098del (p.Phe1033SerfsTer?) c.2936del (p.Phe979SerfsTer?) c.3131del (p.Phe1044SerfsTer?) c.365del (p.Phe122SerfsTer?) | |
X | g.49216521A>C | CA412964152 | CACNA1F | c.3097T>G (p.Phe1033Val) c.2935T>G (p.Phe979Val) c.3130T>G (p.Phe1044Val) c.364T>G (p.Phe122Val) | |
X | g.49216521A>G | CA412964153 | CACNA1F | c.3097T>C (p.Phe1033Leu) c.2935T>C (p.Phe979Leu) c.3130T>C (p.Phe1044Leu) c.364T>C (p.Phe122Leu) | |
X | g.49216521A>T | CA412964154 | CACNA1F | c.3097T>A (p.Phe1033Ile) c.2935T>A (p.Phe979Ile) c.3130T>A (p.Phe1044Ile) c.364T>A (p.Phe122Ile) | |
X | g.49216522G>A | CA516377365 | CACNA1F | c.3096C>T (p.Ser1032=) c.2934C>T (p.Ser978=) c.3129C>T (p.Ser1043=) c.363C>T (p.Ser121=) | |
X | g.49216522G>C | CA516377364 | CACNA1F | c.3096C>G (p.Ser1032=) c.2934C>G (p.Ser978=) c.3129C>G (p.Ser1043=) c.363C>G (p.Ser121=) | |
X | g.49216522G>T | CA516377363 | CACNA1F | c.3096C>A (p.Ser1032=) c.2934C>A (p.Ser978=) c.3129C>A (p.Ser1043=) c.363C>A (p.Ser121=) | |
X | g.49216523del | CA2820835119 | CACNA1F | c.3096del (p.Phe1033SerfsTer?) c.2934del (p.Phe979SerfsTer?) c.3129del (p.Phe1044SerfsTer?) c.363del (p.Phe122SerfsTer?) | |
X | g.49216523G>A | CA412964155 | CACNA1F | c.3095C>T (p.Ser1032Phe) c.2933C>T (p.Ser978Phe) c.3128C>T (p.Ser1043Phe) c.362C>T (p.Ser121Phe) | |
X | g.49216523G>C | CA412964156 | CACNA1F | c.3095C>G (p.Ser1032Cys) c.2933C>G (p.Ser978Cys) c.3128C>G (p.Ser1043Cys) c.362C>G (p.Ser121Cys) | |
X | g.49216523G>T | CA412964157 | CACNA1F | c.3095C>A (p.Ser1032Tyr) c.2933C>A (p.Ser978Tyr) c.3128C>A (p.Ser1043Tyr) c.362C>A (p.Ser121Tyr) | gnomAD v4 |
X | g.49216524A>C | CA412964158 | CACNA1F | c.3094T>G (p.Ser1032Ala) c.2932T>G (p.Ser978Ala) c.3127T>G (p.Ser1043Ala) c.361T>G (p.Ser121Ala) | |
X | g.49216524A>G | CA412964159 | CACNA1F | c.3094T>C (p.Ser1032Pro) c.2932T>C (p.Ser978Pro) c.3127T>C (p.Ser1043Pro) c.361T>C (p.Ser121Pro) | |
X | g.49216524A>T | CA412964160 | CACNA1F | c.3094T>A (p.Ser1032Thr) c.2932T>A (p.Ser978Thr) c.3127T>A (p.Ser1043Thr) c.361T>A (p.Ser121Thr) | gnomAD v4 |
X | g.49216525G>A | CA516377366 | CACNA1F | c.3093C>T (p.Gly1031=) c.2931C>T (p.Gly977=) c.3126C>T (p.Gly1042=) c.360C>T (p.Gly120=) | |
X | g.49216525G>C | CA516377367 | CACNA1F | c.3093C>G (p.Gly1031=) c.2931C>G (p.Gly977=) c.3126C>G (p.Gly1042=) c.360C>G (p.Gly120=) | |
X | g.49216525G>T | CA516377368 | CACNA1F | c.3093C>A (p.Gly1031=) c.2931C>A (p.Gly977=) c.3126C>A (p.Gly1042=) c.360C>A (p.Gly120=) | |
X | g.49216525_49216527del | CA2820835123 | CACNA1F | c.3091_3093del (p.Gly1031del) c.2929_2931del (p.Gly977del) c.3124_3126del (p.Gly1042del) c.358_360del (p.Gly120del) | |
X | g.49216526C>A | CA412964161 | CACNA1F | c.3092G>T (p.Gly1031Val) c.2930G>T (p.Gly977Val) c.3125G>T (p.Gly1042Val) c.359G>T (p.Gly120Val) | |
X | g.49216526C= | CA2428539756 | CACNA1F | c.3092G= (p.Gly1031=) c.2930G= (p.Gly977=) c.3125G= (p.Gly1042=) c.359G= (p.Gly120=) | |
X | g.49216526C>G | CA412964162 | CACNA1F | c.3092G>C (p.Gly1031Ala) c.2930G>C (p.Gly977Ala) c.3125G>C (p.Gly1042Ala) c.359G>C (p.Gly120Ala) | |
X | g.49216526C>T | CA412964163 | CACNA1F | c.3092G>A (p.Gly1031Asp) c.2930G>A (p.Gly977Asp) c.3125G>A (p.Gly1042Asp) c.359G>A (p.Gly120Asp) | dbSNP gnomAD v3 gnomAD v4 |
X | g.49216529del | CA2695233570 | CACNA1F | c.3092del c.2930del c.3125del c.359del | |
X | g.49216527C>A | CA412964166 | CACNA1F | c.3091G>T (p.Gly1031Cys) c.2929G>T (p.Gly977Cys) c.3124G>T (p.Gly1042Cys) c.358G>T (p.Gly120Cys) | |
X | g.49216527C= | CA2428539757 | CACNA1F | c.3091G= (p.Gly1031=) c.2929G= (p.Gly977=) c.3124G= (p.Gly1042=) c.358G= (p.Gly120=) | |
X | g.49216527C>G | CA412964164 | CACNA1F | c.3091G>C (p.Gly1031Arg) c.2929G>C (p.Gly977Arg) c.3124G>C (p.Gly1042Arg) c.358G>C (p.Gly120Arg) | |
X | g.49216527C>T | CA412964165 | CACNA1F | c.3091G>A (p.Gly1031Ser) c.2929G>A (p.Gly977Ser) c.3124G>A (p.Gly1042Ser) c.358G>A (p.Gly120Ser) | dbSNP |
X | g.49216528C>A | CA412964167 | CACNA1F | c.3090G>T (p.Lys1030Asn) c.2928G>T (p.Lys976Asn) c.3123G>T (p.Lys1041Asn) c.357G>T (p.Lys119Asn) | gnomAD v4 |
X | g.49216528C>G | CA412964168 | CACNA1F | c.3090G>C (p.Lys1030Asn) c.2928G>C (p.Lys976Asn) c.3123G>C (p.Lys1041Asn) c.357G>C (p.Lys119Asn) | |
X | g.49216528C>T | CA516377369 | CACNA1F | c.3090G>A (p.Lys1030=) c.2928G>A (p.Lys976=) c.3123G>A (p.Lys1041=) c.357G>A (p.Lys119=) | gnomAD v4 |
X | g.49216529C>A | CA412964169 | CACNA1F | c.3090-1G>T (n.3090-1G>T) c.2928-1G>T (n.2928-1G>T) c.3123-1G>T (n.3123-1G>T) c.357-1G>T (n.357-1G>T) | gnomAD v4 |
X | g.49216529C>G | CA412964170 | CACNA1F | c.3090-1G>C (n.3090-1G>C) c.2928-1G>C (n.2928-1G>C) c.3123-1G>C (n.3123-1G>C) c.357-1G>C (n.357-1G>C) | |
X | g.49216529C>T | CA412964171 | CACNA1F | c.3090-1G>A (n.3090-1G>A) c.2928-1G>A (n.2928-1G>A) c.3123-1G>A (n.3123-1G>A) c.357-1G>A (n.357-1G>A) | |
X | g.49216529_49216530delinsCT | CA2428539758 | CACNA1F | c.3090-2_3090-1delinsAG (n.3090-2_3090-1delinsAG) c.2928-2_2928-1delinsAG (n.2928-2_2928-1delinsAG) c.3123-2_3123-1delinsAG (n.3123-2_3123-1delinsAG) c.357-2_357-1delinsAG (n.357-2_357-1delinsAG) | |
X | g.49216529_49216530insA | CA2531284309 | CACNA1F | c.3090-2_3090-1insT (n.3090-2_3090-1insT) c.2928-2_2928-1insT (n.2928-2_2928-1insT) c.3123-2_3123-1insT (n.3123-2_3123-1insT) c.357-2_357-1insT (n.357-2_357-1insT) | |
X | g.49216530del | CA875949972 | CACNA1F | c.3090-2del (n.3090-2del) c.2928-2del (n.2928-2del) c.3123-2del (n.3123-2del) c.357-2del (n.357-2del) | dbSNP |
X | g.49216530T>A | CA412964172 | CACNA1F | c.3090-2A>T (n.3090-2A>T) c.2928-2A>T (n.2928-2A>T) c.3123-2A>T (n.3123-2A>T) c.357-2A>T (n.357-2A>T) | ClinVar dbSNP |
X | g.49216530T>C | CA412964173 | CACNA1F | c.3090-2A>G (n.3090-2A>G) c.2928-2A>G (n.2928-2A>G) c.3123-2A>G (n.3123-2A>G) c.357-2A>G (n.357-2A>G) | |
X | g.49216530T>G | CA412964174 | CACNA1F | c.3090-2A>C (n.3090-2A>C) c.2928-2A>C (n.2928-2A>C) c.3123-2A>C (n.3123-2A>C) c.357-2A>C (n.357-2A>C) | |
X | g.49216531G>A | CA2820835124 | CACNA1F | c.3090-3C>T (n.3090-3C>T) c.2928-3C>T (n.2928-3C>T) c.3123-3C>T (n.3123-3C>T) c.357-3C>T (n.357-3C>T) | |
X | g.49216533G>A | CA641531081 | CACNA1F | c.3090-5C>T (n.3090-5C>T) c.2928-5C>T (n.2928-5C>T) c.3123-5C>T (n.3123-5C>T) c.357-5C>T (n.357-5C>T) | dbSNP gnomAD v2 gnomAD v4 |
X | g.49216533G= | CA2428539759 | CACNA1F | c.3090-5C= (n.3090-5C=) c.2928-5C= (n.2928-5C=) c.3123-5C= (n.3123-5C=) c.357-5C= (n.357-5C=) | |
X | g.49216533G>T | CA2693706972 | CACNA1F | c.3090-5C>A (n.3090-5C>A) c.2928-5C>A (n.2928-5C>A) c.3123-5C>A (n.3123-5C>A) c.357-5C>A (n.357-5C>A) | gnomAD v4 |
X | g.49216534G>A | CA2693706976 | CACNA1F | c.3090-6C>T (n.3090-6C>T) c.2928-6C>T (n.2928-6C>T) c.3123-6C>T (n.3123-6C>T) c.357-6C>T (n.357-6C>T) | gnomAD v4 |
X | g.49216534G>T | CA2693706979 | CACNA1F | c.3090-6C>A (n.3090-6C>A) c.2928-6C>A (n.2928-6C>A) c.3123-6C>A (n.3123-6C>A) c.357-6C>A (n.357-6C>A) | gnomAD v4 |
X | g.49216535A= | CA2428539760 | CACNA1F | c.3090-7T= (n.3090-7T=) c.2928-7T= (n.2928-7T=) c.3123-7T= (n.3123-7T=) c.357-7T= (n.357-7T=) | |
X | g.49216535A>T | CA875949975 | CACNA1F | c.3090-7T>A (n.3090-7T>A) c.2928-7T>A (n.2928-7T>A) c.3123-7T>A (n.3123-7T>A) c.357-7T>A (n.357-7T>A) | dbSNP gnomAD v3 gnomAD v4 |
X | g.49216537G>A | CA10410528 | CACNA1F | c.3090-9C>T (n.3090-9C>T) c.2928-9C>T (n.2928-9C>T) c.3123-9C>T (n.3123-9C>T) c.357-9C>T (n.357-9C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49216537G= | CA2428539761 | CACNA1F | c.3090-9C= (n.3090-9C=) c.2928-9C= (n.2928-9C=) c.3123-9C= (n.3123-9C=) c.357-9C= (n.357-9C=) | |
X | g.49216539G>A | CA2693706990 | CACNA1F | c.3090-11C>T (n.3090-11C>T) c.2928-11C>T (n.2928-11C>T) c.3123-11C>T (n.3123-11C>T) c.357-11C>T (n.357-11C>T) | gnomAD v4 |
X | g.49216539G>C | CA329140273 | CACNA1F | c.3090-11C>G (n.3090-11C>G) c.2928-11C>G (n.2928-11C>G) c.3123-11C>G (n.3123-11C>G) c.357-11C>G (n.357-11C>G) | ClinVar dbSNP |
X | g.49216539G= | CA2428539762 | CACNA1F | c.3090-11C= (n.3090-11C=) c.2928-11C= (n.2928-11C=) c.3123-11C= (n.3123-11C=) c.357-11C= (n.357-11C=) | |
X | g.49216539G>T | CA2693706993 | CACNA1F | c.3090-11C>A (n.3090-11C>A) c.2928-11C>A (n.2928-11C>A) c.3123-11C>A (n.3123-11C>A) c.357-11C>A (n.357-11C>A) | gnomAD v4 |
X | g.49216540C= | CA2428539763 | CACNA1F | c.3090-12G= (n.3090-12G=) c.2928-12G= (n.2928-12G=) c.3123-12G= (n.3123-12G=) c.357-12G= (n.357-12G=) | |
X | g.49216540C>G | CA875949988 | CACNA1F | c.3090-12G>C (n.3090-12G>C) c.2928-12G>C (n.2928-12G>C) c.3123-12G>C (n.3123-12G>C) c.357-12G>C (n.357-12G>C) | dbSNP |
X | g.49216543dup | CA10410529 | CACNA1F | c.3090-13dup (n.3090-13dup) c.2928-13dup (n.2928-13dup) c.3123-13dup (n.3123-13dup) c.357-13dup (n.357-13dup) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49216543del | CA2579607590 | CACNA1F | c.3090-13del (n.3090-13del) c.2928-13del (n.2928-13del) c.3123-13del (n.3123-13del) c.357-13del (n.357-13del) | |
X | g.49216543A= | CA2428539764 | CACNA1F | c.3090-15T= (n.3090-15T=) c.2928-15T= (n.2928-15T=) c.3123-15T= (n.3123-15T=) c.357-15T= (n.357-15T=) | |
X | g.49216543A>G | CA10410530 | CACNA1F | c.3090-15T>C (n.3090-15T>C) c.2928-15T>C (n.2928-15T>C) c.3123-15T>C (n.3123-15T>C) c.357-15T>C (n.357-15T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49216544C>A | CA641531089 | CACNA1F | c.3090-16G>T (n.3090-16G>T) c.2928-16G>T (n.2928-16G>T) c.3123-16G>T (n.3123-16G>T) c.357-16G>T (n.357-16G>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49216544C= | CA2428539765 | CACNA1F | c.3090-16G= (n.3090-16G=) c.2928-16G= (n.2928-16G=) c.3123-16G= (n.3123-16G=) c.357-16G= (n.357-16G=) | |
X | g.49216545A>T | CA2693707002 | CACNA1F | c.3090-17T>A (n.3090-17T>A) c.2928-17T>A (n.2928-17T>A) c.3123-17T>A (n.3123-17T>A) c.357-17T>A (n.357-17T>A) | gnomAD v4 |
X | g.49216548T>C | CA2428539767 | CACNA1F | c.3090-20A>G (n.3090-20A>G) c.2928-20A>G (n.2928-20A>G) c.3123-20A>G (n.3123-20A>G) c.357-20A>G (n.357-20A>G) | dbSNP gnomAD v4 |
X | g.49216548T= | CA2428539766 | CACNA1F | c.3090-20A= (n.3090-20A=) c.2928-20A= (n.2928-20A=) c.3123-20A= (n.3123-20A=) c.357-20A= (n.357-20A=) | |
X | g.49216549del | CA2520389917 | CACNA1F | c.3090-20del (n.3090-20del) c.2928-20del (n.2928-20del) c.3123-20del (n.3123-20del) c.357-20del (n.357-20del) | |
X | g.49216549T>C | CA2693707006 | CACNA1F | c.3090-21A>G (n.3090-21A>G) c.2928-21A>G (n.2928-21A>G) c.3123-21A>G (n.3123-21A>G) c.357-21A>G (n.357-21A>G) | gnomAD v4 |
X | g.49216551G>T | CA2693707008 | CACNA1F | c.3090-23C>A (n.3090-23C>A) c.2928-23C>A (n.2928-23C>A) c.3123-23C>A (n.3123-23C>A) c.357-23C>A (n.357-23C>A) | gnomAD v4 |
X | g.49216552A= | CA2428539768 | CACNA1F | c.3090-24T= (n.3090-24T=) c.2928-24T= (n.2928-24T=) c.3123-24T= (n.3123-24T=) c.357-24T= (n.357-24T=) | |
X | g.49216552A>G | CA10410531 | CACNA1F | c.3090-24T>C (n.3090-24T>C) c.2928-24T>C (n.2928-24T>C) c.3123-24T>C (n.3123-24T>C) c.357-24T>C (n.357-24T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49216553T>A | CA2693707012 | CACNA1F | c.3090-25A>T (n.3090-25A>T) c.2928-25A>T (n.2928-25A>T) c.3123-25A>T (n.3123-25A>T) c.357-25A>T (n.357-25A>T) | gnomAD v4 |
X | g.49216553T>C | CA641531091 | CACNA1F | c.3090-25A>G (n.3090-25A>G) c.2928-25A>G (n.2928-25A>G) c.3123-25A>G (n.3123-25A>G) c.357-25A>G (n.357-25A>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49216553T= | CA2428539770 | CACNA1F | c.3090-25A= (n.3090-25A=) c.2928-25A= (n.2928-25A=) c.3123-25A= (n.3123-25A=) c.357-25A= (n.357-25A=) | |
X | g.49216553_49216563delinsTGGGTGAGGAG | CA2428539769 | CACNA1F | c.3090-35_3090-25delinsCTCCTCACCCA (n.3090-35_3090-25delinsCTCCTCACCCA) c.2928-35_2928-25delinsCTCCTCACCCA (n.2928-35_2928-25delinsCTCCTCACCCA) c.3123-35_3123-25delinsCTCCTCACCCA (n.3123-35_3123-25delinsCTCCTCACCCA) c.357-35_357-25delinsCTCCTCACCCA (n.357-35_357-25delinsCTCCTCACCCA) | |
X | g.49216554G>A | CA2693707017 | CACNA1F | c.3090-26C>T (n.3090-26C>T) c.2928-26C>T (n.2928-26C>T) c.3123-26C>T (n.3123-26C>T) c.357-26C>T (n.357-26C>T) | gnomAD v4 |
X | g.49216554G>T | CA2693707019 | CACNA1F | c.3090-26C>A (n.3090-26C>A) c.2928-26C>A (n.2928-26C>A) c.3123-26C>A (n.3123-26C>A) c.357-26C>A (n.357-26C>A) | gnomAD v4 |
X | g.49216563_49216572del | CA10410532 | CACNA1F | c.3090-35_3090-26del (n.3090-35_3090-26del) c.2928-35_2928-26del (n.2928-35_2928-26del) c.3123-35_3123-26del (n.3123-35_3123-26del) c.357-35_357-26del (n.357-35_357-26del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.49216555G>C | CA2693707023 | CACNA1F | c.3090-27C>G (n.3090-27C>G) c.2928-27C>G (n.2928-27C>G) c.3123-27C>G (n.3123-27C>G) c.357-27C>G (n.357-27C>G) | gnomAD v4 |
X | g.49216557T>C | CA2693707025 | CACNA1F | c.3090-29A>G (n.3090-29A>G) c.2928-29A>G (n.2928-29A>G) c.3123-29A>G (n.3123-29A>G) c.357-29A>G (n.357-29A>G) | gnomAD v4 |
X | g.49216558G>A | CA2428539772 | CACNA1F | c.3090-30C>T (n.3090-30C>T) c.2928-30C>T (n.2928-30C>T) c.3123-30C>T (n.3123-30C>T) c.357-30C>T (n.357-30C>T) | dbSNP |
X | g.49216558G= | CA2428539771 | CACNA1F | c.3090-30C= (n.3090-30C=) c.2928-30C= (n.2928-30C=) c.3123-30C= (n.3123-30C=) c.357-30C= (n.357-30C=) | |
X | g.49216558G>T | CA2693707026 | CACNA1F | c.3090-30C>A (n.3090-30C>A) c.2928-30C>A (n.2928-30C>A) c.3123-30C>A (n.3123-30C>A) c.357-30C>A (n.357-30C>A) | gnomAD v4 |
X | g.49216559A>G | CA2693707028 | CACNA1F | c.3090-31T>C (n.3090-31T>C) c.2928-31T>C (n.2928-31T>C) c.3123-31T>C (n.3123-31T>C) c.357-31T>C (n.357-31T>C) | gnomAD v4 |
X | g.49216559A>T | CA2820835132 | CACNA1F | c.3090-31T>A (n.3090-31T>A) c.2928-31T>A (n.2928-31T>A) c.3123-31T>A (n.3123-31T>A) c.357-31T>A (n.357-31T>A) | |
X | g.49216560G>A | CA2693707029 | CACNA1F | c.3090-32C>T (n.3090-32C>T) c.2928-32C>T (n.2928-32C>T) c.3123-32C>T (n.3123-32C>T) c.357-32C>T (n.357-32C>T) | gnomAD v4 |
X | g.49216560G>T | CA2693707031 | CACNA1F | c.3090-32C>A (n.3090-32C>A) c.2928-32C>A (n.2928-32C>A) c.3123-32C>A (n.3123-32C>A) c.357-32C>A (n.357-32C>A) | gnomAD v4 |
X | g.49216561G>C | CA2693707034 | CACNA1F | c.3090-33C>G (n.3090-33C>G) c.2928-33C>G (n.2928-33C>G) c.3123-33C>G (n.3123-33C>G) c.357-33C>G (n.357-33C>G) | gnomAD v4 |
X | g.49216563G>A | CA2693707036 | CACNA1F | c.3090-35C>T (n.3090-35C>T) c.2928-35C>T (n.2928-35C>T) c.3123-35C>T (n.3123-35C>T) c.357-35C>T (n.357-35C>T) | gnomAD v4 |
X | g.49216563G>C | CA2693707038 | CACNA1F | c.3090-35C>G (n.3090-35C>G) c.2928-35C>G (n.2928-35C>G) c.3123-35C>G (n.3123-35C>G) c.357-35C>G (n.357-35C>G) | gnomAD v4 |
X | g.49216565G>C | CA10410533 | CACNA1F | c.3090-37C>G (n.3090-37C>G) c.2928-37C>G (n.2928-37C>G) c.3123-37C>G (n.3123-37C>G) c.357-37C>G (n.357-37C>G) | dbSNP ExAC gnomAD v3 gnomAD v4 |
X | g.49216565G= | CA2428539773 | CACNA1F | c.3090-37C= (n.3090-37C=) c.2928-37C= (n.2928-37C=) c.3123-37C= (n.3123-37C=) c.357-37C= (n.357-37C=) | |
X | g.49216565G>T | CA2693707042 | CACNA1F | c.3090-37C>A (n.3090-37C>A) c.2928-37C>A (n.2928-37C>A) c.3123-37C>A (n.3123-37C>A) c.357-37C>A (n.357-37C>A) | gnomAD v4 |
X | g.49216566G>T | CA2579607591 | CACNA1F | c.3090-38C>A (n.3090-38C>A) c.2928-38C>A (n.2928-38C>A) c.3123-38C>A (n.3123-38C>A) c.357-38C>A (n.357-38C>A) | gnomAD v4 |
X | g.49216567T>C | CA2693707049 | CACNA1F | c.3090-39A>G (n.3090-39A>G) c.2928-39A>G (n.2928-39A>G) c.3123-39A>G (n.3123-39A>G) c.357-39A>G (n.357-39A>G) | gnomAD v4 |
X | g.49216568G>A | CA641531092 | CACNA1F | c.3090-40C>T (n.3090-40C>T) c.2928-40C>T (n.2928-40C>T) c.3123-40C>T (n.3123-40C>T) c.357-40C>T (n.357-40C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.49216568G= | CA2428539774 | CACNA1F | c.3090-40C= (n.3090-40C=) c.2928-40C= (n.2928-40C=) c.3123-40C= (n.3123-40C=) c.357-40C= (n.357-40C=) | |
X | g.49216569A>G | CA2693707052 | CACNA1F | c.3090-41T>C (n.3090-41T>C) c.2928-41T>C (n.2928-41T>C) c.3123-41T>C (n.3123-41T>C) c.357-41T>C (n.357-41T>C) | gnomAD v4 |
X | g.49216569A>T | CA2693707053 | CACNA1F | c.3090-41T>A (n.3090-41T>A) c.2928-41T>A (n.2928-41T>A) c.3123-41T>A (n.3123-41T>A) c.357-41T>A (n.357-41T>A) | gnomAD v4 |
X | g.49216570G>A | CA2693707055 | CACNA1F | c.3090-42C>T (n.3090-42C>T) c.2928-42C>T (n.2928-42C>T) c.3123-42C>T (n.3123-42C>T) c.357-42C>T (n.357-42C>T) | gnomAD v4 |
X | g.49216570_49216571insAGA | CA2820835134 | CACNA1F | c.3090-43_3090-42insTCT (n.3090-43_3090-42insTCT) c.2928-43_2928-42insTCT (n.2928-43_2928-42insTCT) c.3123-43_3123-42insTCT (n.3123-43_3123-42insTCT) c.357-43_357-42insTCT (n.357-43_357-42insTCT) | |
X | g.49216571G>A | CA2428539776 | CACNA1F | c.3090-43C>T (n.3090-43C>T) c.2928-43C>T (n.2928-43C>T) c.3123-43C>T (n.3123-43C>T) c.357-43C>T (n.357-43C>T) | dbSNP gnomAD v4 |
X | g.49216571G= | CA2428539775 | CACNA1F | c.3090-43C= (n.3090-43C=) c.2928-43C= (n.2928-43C=) c.3123-43C= (n.3123-43C=) c.357-43C= (n.357-43C=) | |
X | g.49216571G>T | CA2693707057 | CACNA1F | c.3090-43C>A (n.3090-43C>A) c.2928-43C>A (n.2928-43C>A) c.3123-43C>A (n.3123-43C>A) c.357-43C>A (n.357-43C>A) | gnomAD v4 |