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 |
|---|---|---|---|---|---|
| 6 | g.136869831_136869927dup | CA1094889794 | PEX7 | c.634-59_671dup c.322-59_359dup c.520-59_557dup c.639-59_676dup c.514-59_551dup c.340-59_377dup c.526+23650_526+23746dup (n.526+23650_526+23746dup) | gnomAD v3 gnomAD v4 |
| 6 | g.136869903C>A | CA365763954 | PEX7 | c.647C>A (p.Thr216Asn) c.335C>A c.533C>A (p.Thr178Asn) c.652C>A (n.652C>A) c.527C>A (p.Thr176Asn) c.353C>A (p.Thr118Asn) c.526+23722C>A (n.526+23722C>A) | |
| 6 | g.136869903C>G | CA365763955 | PEX7 | c.647C>G (p.Thr216Ser) c.335C>G c.533C>G (p.Thr178Ser) c.652C>G (n.652C>G) c.527C>G (p.Thr176Ser) c.353C>G (p.Thr118Ser) c.526+23722C>G (n.526+23722C>G) | |
| 6 | g.136869903C>T | CA365763956 | PEX7 | c.647C>T (p.Thr216Ile) c.335C>T c.533C>T (p.Thr178Ile) c.652C>T (n.652C>T) c.527C>T (p.Thr176Ile) c.353C>T (p.Thr118Ile) c.526+23722C>T (n.526+23722C>T) | |
| 6 | g.136869904C>A | CA452227867 | PEX7 | c.648C>A (p.Thr216=) c.336C>A c.534C>A (p.Thr178=) c.653C>A (n.653C>A) c.528C>A (p.Thr176=) c.354C>A (p.Thr118=) c.526+23723C>A (n.526+23723C>A) | |
| 6 | g.136869904C>G | CA452227868 | PEX7 | c.648C>G (p.Thr216=) c.336C>G c.534C>G (p.Thr178=) c.653C>G (n.653C>G) c.528C>G (p.Thr176=) c.354C>G (p.Thr118=) c.526+23723C>G (n.526+23723C>G) | ClinVar dbSNP |
| 6 | g.136869904C>T | CA4017686 | PEX7 | c.648C>T (p.Thr216=) c.336C>T c.534C>T (p.Thr178=) c.653C>T (n.653C>T) c.528C>T (p.Thr176=) c.354C>T (p.Thr118=) c.526+23723C>T (n.526+23723C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136869905G>A | CA340700 | PEX7 | c.649G>A (p.Gly217Arg) c.337G>A c.535G>A (p.Gly179Arg) c.654G>A (n.654G>A) c.529G>A (p.Gly177Arg) c.355G>A (p.Gly119Arg) c.526+23724G>A (n.526+23724G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.136869905G>C | CA365763958 | PEX7 | c.649G>C (p.Gly217Arg) c.337G>C c.535G>C (p.Gly179Arg) c.654G>C (n.654G>C) c.529G>C (p.Gly177Arg) c.355G>C (p.Gly119Arg) c.526+23724G>C (n.526+23724G>C) | |
| 6 | g.136869905G>T | CA365763957 | PEX7 | c.649G>T (p.Gly217Trp) c.337G>T c.535G>T (p.Gly179Trp) c.654G>T (n.654G>T) c.529G>T (p.Gly177Trp) c.355G>T (p.Gly119Trp) c.526+23724G>T (n.526+23724G>T) | |
| 6 | g.136869908del | CA2580075139 | PEX7 | c.652del (p.Ala218ArgfsTer6) c.340del c.538del (p.Ala180ArgfsTer6) c.657del (n.657del) c.532del (p.Ala178ArgfsTer6) c.358del (p.Ala120ArgfsTer6) c.526+23727del (n.526+23727del) | ClinVar gnomAD v4 |
| 6 | g.136869906G>A | CA365763959 | PEX7 | c.650G>A (p.Gly217Glu) c.338G>A c.536G>A (p.Gly179Glu) c.655G>A (n.655G>A) c.530G>A (p.Gly177Glu) c.356G>A (p.Gly119Glu) c.526+23725G>A (n.526+23725G>A) | ClinVar |
| 6 | g.136869906G>C | CA365763960 | PEX7 | c.650G>C (p.Gly217Ala) c.338G>C c.536G>C (p.Gly179Ala) c.655G>C (n.655G>C) c.530G>C (p.Gly177Ala) c.356G>C (p.Gly119Ala) c.526+23725G>C (n.526+23725G>C) | |
| 6 | g.136869906G>T | CA365763961 | PEX7 | c.650G>T (p.Gly217Val) c.338G>T c.536G>T (p.Gly179Val) c.655G>T (n.655G>T) c.530G>T (p.Gly177Val) c.356G>T (p.Gly119Val) c.526+23725G>T (n.526+23725G>T) | |
| 6 | g.136869907G>A | CA452227869 | PEX7 | c.651G>A (p.Gly217=) c.339G>A c.537G>A (p.Gly179=) c.656G>A (n.656G>A) c.531G>A (p.Gly177=) c.357G>A (p.Gly119=) c.526+23726G>A (n.526+23726G>A) | gnomAD v4 |
| 6 | g.136869907G>C | CA452227870 | PEX7 | c.651G>C (p.Gly217=) c.339G>C c.537G>C (p.Gly179=) c.656G>C (n.656G>C) c.531G>C (p.Gly177=) c.357G>C (p.Gly119=) c.526+23726G>C (n.526+23726G>C) | |
| 6 | g.136869907G>T | CA452227871 | PEX7 | c.651G>T (p.Gly217=) c.339G>T c.537G>T (p.Gly179=) c.656G>T (n.656G>T) c.531G>T (p.Gly177=) c.357G>T (p.Gly119=) c.526+23726G>T (n.526+23726G>T) | |
| 6 | g.136869908G>A | CA365763962 | PEX7 | c.652G>A (p.Ala218Thr) c.340G>A c.538G>A (p.Ala180Thr) c.657G>A (n.657G>A) c.532G>A (p.Ala178Thr) c.358G>A (p.Ala120Thr) c.526+23727G>A (n.526+23727G>A) | |
| 6 | g.136869908G>C | CA365763963 | PEX7 | c.652G>C (p.Ala218Pro) c.340G>C c.538G>C (p.Ala180Pro) c.657G>C (n.657G>C) c.532G>C (p.Ala178Pro) c.358G>C (p.Ala120Pro) c.526+23727G>C (n.526+23727G>C) | |
| 6 | g.136869908G>T | CA365763964 | PEX7 | c.652G>T (p.Ala218Ser) c.340G>T c.538G>T (p.Ala180Ser) c.657G>T (n.657G>T) c.532G>T (p.Ala178Ser) c.358G>T (p.Ala120Ser) c.526+23727G>T (n.526+23727G>T) | |
| 6 | g.136869909C>A | CA365763965 | PEX7 | c.653C>A (p.Ala218Glu) c.341C>A c.539C>A (p.Ala180Glu) c.658C>A (n.658C>A) c.533C>A (p.Ala178Glu) c.359C>A (p.Ala120Glu) c.526+23728C>A (n.526+23728C>A) | gnomAD v4 |
| 6 | g.136869909C>G | CA365763966 | PEX7 | c.653C>G (p.Ala218Gly) c.341C>G c.539C>G (p.Ala180Gly) c.658C>G (n.658C>G) c.533C>G (p.Ala178Gly) c.359C>G (p.Ala120Gly) c.526+23728C>G (n.526+23728C>G) | |
| 6 | g.136869909C>T | CA130482 | PEX7 | c.653C>T (p.Ala218Val) c.341C>T c.539C>T (p.Ala180Val) c.658C>T (n.658C>T) c.533C>T (p.Ala178Val) c.359C>T (p.Ala120Val) c.526+23728C>T (n.526+23728C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.136869910G>A | CA452227872 | PEX7 | c.654G>A (p.Ala218=) c.342G>A c.540G>A (p.Ala180=) c.659G>A (n.659G>A) c.534G>A (p.Ala178=) c.360G>A (p.Ala120=) c.526+23729G>A (n.526+23729G>A) | ClinVar dbSNP gnomAD v4 COSMIC |
| 6 | g.136869910G>C | CA452227873 | PEX7 | c.654G>C (p.Ala218=) c.342G>C c.540G>C (p.Ala180=) c.659G>C (n.659G>C) c.534G>C (p.Ala178=) c.360G>C (p.Ala120=) c.526+23729G>C (n.526+23729G>C) | |
| 6 | g.136869910G>T | CA452227874 | PEX7 | c.654G>T (p.Ala218=) c.342G>T c.540G>T (p.Ala180=) c.659G>T (n.659G>T) c.534G>T (p.Ala178=) c.360G>T (p.Ala120=) c.526+23729G>T (n.526+23729G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.136869911G>A | CA4017688 | PEX7 | c.655G>A (p.Val219Ile) c.343G>A c.541G>A (p.Val181Ile) c.660G>A (n.660G>A) c.535G>A (p.Val179Ile) c.361G>A (p.Val121Ile) c.526+23730G>A (n.526+23730G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136869911G>C | CA365763967 | PEX7 | c.655G>C (p.Val219Leu) c.343G>C c.541G>C (p.Val181Leu) c.660G>C (n.660G>C) c.535G>C (p.Val179Leu) c.361G>C (p.Val121Leu) c.526+23730G>C (n.526+23730G>C) | |
| 6 | g.136869911G>T | CA4017687 | PEX7 | c.655G>T (p.Val219Phe) c.343G>T c.541G>T (p.Val181Phe) c.660G>T (n.660G>T) c.535G>T (p.Val179Phe) c.361G>T (p.Val121Phe) c.526+23730G>T (n.526+23730G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136869912T>A | CA365763970 | PEX7 | c.656T>A (p.Val219Asp) c.344T>A c.542T>A (p.Val181Asp) c.661T>A (n.661T>A) c.536T>A (p.Val179Asp) c.362T>A (p.Val121Asp) c.526+23731T>A (n.526+23731T>A) | |
| 6 | g.136869912T>C | CA365763968 | PEX7 | c.656T>C (p.Val219Ala) c.344T>C c.542T>C (p.Val181Ala) c.661T>C (n.661T>C) c.536T>C (p.Val179Ala) c.362T>C (p.Val121Ala) c.526+23731T>C (n.526+23731T>C) | dbSNP |
| 6 | g.136869912T>G | CA365763969 | PEX7 | c.656T>G (p.Val219Gly) c.344T>G c.542T>G (p.Val181Gly) c.661T>G (n.661T>G) c.536T>G (p.Val179Gly) c.362T>G (p.Val121Gly) c.526+23731T>G (n.526+23731T>G) | |
| 6 | g.136869913T>A | CA452227875 | PEX7 | c.657T>A (p.Val219=) c.345T>A c.543T>A (p.Val181=) c.662T>A (n.662T>A) c.537T>A (p.Val179=) c.363T>A (p.Val121=) c.526+23732T>A (n.526+23732T>A) | COSMIC |
| 6 | g.136869913T>C | CA452227876 | PEX7 | c.657T>C (p.Val219=) c.345T>C c.543T>C (p.Val181=) c.662T>C (n.662T>C) c.537T>C (p.Val179=) c.363T>C (p.Val121=) c.526+23732T>C (n.526+23732T>C) | |
| 6 | g.136869913T>G | CA452227877 | PEX7 | c.657T>G (p.Val219=) c.345T>G c.543T>G (p.Val181=) c.662T>G (n.662T>G) c.537T>G (p.Val179=) c.363T>G (p.Val121=) c.526+23732T>G (n.526+23732T>G) | |
| 6 | g.136869914G>A | CA365763971 | PEX7 | c.658G>A (p.Asp220Asn) c.346G>A c.544G>A (p.Asp182Asn) c.663G>A (n.663G>A) c.538G>A (p.Asp180Asn) c.364G>A (p.Asp122Asn) c.526+23733G>A (n.526+23733G>A) | |
| 6 | g.136869914G>C | CA365763972 | PEX7 | c.658G>C (p.Asp220His) c.346G>C c.544G>C (p.Asp182His) c.663G>C (n.663G>C) c.538G>C (p.Asp180His) c.364G>C (p.Asp122His) c.526+23733G>C (n.526+23733G>C) | |
| 6 | g.136869914G>T | CA365763973 | PEX7 | c.658G>T (p.Asp220Tyr) c.346G>T c.544G>T (p.Asp182Tyr) c.663G>T (n.663G>T) c.538G>T (p.Asp180Tyr) c.364G>T (p.Asp122Tyr) c.526+23733G>T (n.526+23733G>T) | dbSNP |
| 6 | g.136869915A>C | CA365763974 | PEX7 | c.659A>C (p.Asp220Ala) c.347A>C c.545A>C (p.Asp182Ala) c.664A>C (n.664A>C) c.539A>C (p.Asp180Ala) c.365A>C (p.Asp122Ala) c.526+23734A>C (n.526+23734A>C) | |
| 6 | g.136869915A>G | CA365763975 | PEX7 | c.659A>G (p.Asp220Gly) c.347A>G c.545A>G (p.Asp182Gly) c.664A>G (n.664A>G) c.539A>G (p.Asp180Gly) c.365A>G (p.Asp122Gly) c.526+23734A>G (n.526+23734A>G) | |
| 6 | g.136869915A>T | CA365763976 | PEX7 | c.659A>T (p.Asp220Val) c.347A>T c.545A>T (p.Asp182Val) c.664A>T (n.664A>T) c.539A>T (p.Asp180Val) c.365A>T (p.Asp122Val) c.526+23734A>T (n.526+23734A>T) | |
| 6 | g.136869916C>A | CA365763977 | PEX7 | c.660C>A (p.Asp220Glu) c.348C>A c.546C>A (p.Asp182Glu) c.665C>A (n.665C>A) c.540C>A (p.Asp180Glu) c.366C>A (p.Asp122Glu) c.526+23735C>A (n.526+23735C>A) | |
| 6 | g.136869916C>G | CA4017689 | PEX7 | c.660C>G (p.Asp220Glu) c.348C>G c.546C>G (p.Asp182Glu) c.665C>G (n.665C>G) c.540C>G (p.Asp180Glu) c.366C>G (p.Asp122Glu) c.526+23735C>G (n.526+23735C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.136869916C>T | CA452227878 | PEX7 | c.660C>T (p.Asp220=) c.348C>T c.546C>T (p.Asp182=) c.665C>T (n.665C>T) c.540C>T (p.Asp180=) c.366C>T (p.Asp122=) c.526+23735C>T (n.526+23735C>T) | |
| 6 | g.136869917T>A | CA365763978 | PEX7 | c.661T>A (p.Cys221Ser) c.349T>A c.547T>A (p.Cys183Ser) c.666T>A (n.666T>A) c.541T>A (p.Cys181Ser) c.367T>A (p.Cys123Ser) c.526+23736T>A (n.526+23736T>A) | |
| 6 | g.136869917T>C | CA365763979 | PEX7 | c.661T>C (p.Cys221Arg) c.349T>C c.547T>C (p.Cys183Arg) c.666T>C (n.666T>C) c.541T>C (p.Cys181Arg) c.367T>C (p.Cys123Arg) c.526+23736T>C (n.526+23736T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136869917T>G | CA365763980 | PEX7 | c.661T>G (p.Cys221Gly) c.349T>G c.547T>G (p.Cys183Gly) c.666T>G (n.666T>G) c.541T>G (p.Cys181Gly) c.367T>G (p.Cys123Gly) c.526+23736T>G (n.526+23736T>G) | |
| 6 | g.136869918_136869919del | CA2680489953 | PEX7 | c.662_663del (p.Cys221Ter) c.350_351del c.548_549del (p.Cys183Ter) c.667_668del (n.667_668del) c.542_543del (p.Cys181Ter) c.368_369del (p.Cys123Ter) c.526+23737_526+23738del (n.526+23737_526+23738del) | gnomAD v4 |
| 6 | g.136869918G>A | CA365763981 | PEX7 | c.662G>A (p.Cys221Tyr) c.350G>A c.548G>A (p.Cys183Tyr) c.667G>A (n.667G>A) c.542G>A (p.Cys181Tyr) c.368G>A (p.Cys123Tyr) c.526+23737G>A (n.526+23737G>A) | |
| 6 | g.136869918G>C | CA365763983 | PEX7 | c.662G>C (p.Cys221Ser) c.350G>C c.548G>C (p.Cys183Ser) c.667G>C (n.667G>C) c.542G>C (p.Cys181Ser) c.368G>C (p.Cys123Ser) c.526+23737G>C (n.526+23737G>C) |