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.136869895G>A | CA452227859 | PEX7 | c.639G>A (p.Leu213=) c.327G>A c.525G>A (p.Leu175=) c.644G>A (n.644G>A) c.519G>A (p.Leu173=) c.345G>A (p.Leu115=) c.526+23714G>A (n.526+23714G>A) | ClinVar dbSNP |
6 | g.136869895G>C | CA365763938 | PEX7 | c.639G>C (p.Leu213Phe) c.327G>C c.525G>C (p.Leu175Phe) c.644G>C (n.644G>C) c.519G>C (p.Leu173Phe) c.345G>C (p.Leu115Phe) c.526+23714G>C (n.526+23714G>C) | |
6 | g.136869895G>T | CA365763939 | PEX7 | c.639G>T (p.Leu213Phe) c.327G>T c.525G>T (p.Leu175Phe) c.644G>T (n.644G>T) c.519G>T (p.Leu173Phe) c.345G>T (p.Leu115Phe) c.526+23714G>T (n.526+23714G>T) | |
6 | g.136869896C>A | CA365763940 | PEX7 | c.640C>A (p.Leu214Met) c.328C>A c.526C>A (p.Leu176Met) c.645C>A (n.645C>A) c.520C>A (p.Leu174Met) c.346C>A (p.Leu116Met) c.526+23715C>A (n.526+23715C>A) | |
6 | g.136869896C>G | CA365763941 | PEX7 | c.640C>G (p.Leu214Val) c.328C>G c.526C>G (p.Leu176Val) c.645C>G (n.645C>G) c.520C>G (p.Leu174Val) c.346C>G (p.Leu116Val) c.526+23715C>G (n.526+23715C>G) | |
6 | g.136869896C>T | CA452227860 | PEX7 | c.640C>T (p.Leu214=) c.328C>T c.526C>T (p.Leu176=) c.645C>T (n.645C>T) c.520C>T (p.Leu174=) c.346C>T (p.Leu116=) c.526+23715C>T (n.526+23715C>T) | ClinVar dbSNP gnomAD v4 |
6 | g.136869897T>A | CA365763944 | PEX7 | c.641T>A (p.Leu214Gln) c.329T>A c.527T>A (p.Leu176Gln) c.646T>A (n.646T>A) c.521T>A (p.Leu174Gln) c.347T>A (p.Leu116Gln) c.526+23716T>A (n.526+23716T>A) | |
6 | g.136869897T>C | CA365763942 | PEX7 | c.641T>C (p.Leu214Pro) c.329T>C c.527T>C (p.Leu176Pro) c.646T>C (n.646T>C) c.521T>C (p.Leu174Pro) c.347T>C (p.Leu116Pro) c.526+23716T>C (n.526+23716T>C) | ClinVar dbSNP |
6 | g.136869897T>G | CA365763943 | PEX7 | c.641T>G (p.Leu214Arg) c.329T>G c.527T>G (p.Leu176Arg) c.646T>G (n.646T>G) c.521T>G (p.Leu174Arg) c.347T>G (p.Leu116Arg) c.526+23716T>G (n.526+23716T>G) | |
6 | g.136869898G>A | CA452227863 | PEX7 | c.642G>A (p.Leu214=) c.330G>A c.528G>A (p.Leu176=) c.647G>A (n.647G>A) c.522G>A (p.Leu174=) c.348G>A (p.Leu116=) c.526+23717G>A (n.526+23717G>A) | |
6 | g.136869898G>C | CA452227861 | PEX7 | c.642G>C (p.Leu214=) c.330G>C c.528G>C (p.Leu176=) c.647G>C (n.647G>C) c.522G>C (p.Leu174=) c.348G>C (p.Leu116=) c.526+23717G>C (n.526+23717G>C) | dbSNP |
6 | g.136869898G>T | CA452227862 | PEX7 | c.642G>T (p.Leu214=) c.330G>T c.528G>T (p.Leu176=) c.647G>T (n.647G>T) c.522G>T (p.Leu174=) c.348G>T (p.Leu116=) c.526+23717G>T (n.526+23717G>T) | |
6 | g.136869899G>A | CA365763945 | PEX7 | c.643G>A (p.Val215Met) c.331G>A c.529G>A (p.Val177Met) c.648G>A (n.648G>A) c.523G>A (p.Val175Met) c.349G>A (p.Val117Met) c.526+23718G>A (n.526+23718G>A) | |
6 | g.136869899G>C | CA365763946 | PEX7 | c.643G>C (p.Val215Leu) c.331G>C c.529G>C (p.Val177Leu) c.648G>C (n.648G>C) c.523G>C (p.Val175Leu) c.349G>C (p.Val117Leu) c.526+23718G>C (n.526+23718G>C) | gnomAD v4 |
6 | g.136869899G>T | CA365763947 | PEX7 | c.643G>T (p.Val215Leu) c.331G>T c.529G>T (p.Val177Leu) c.648G>T (n.648G>T) c.523G>T (p.Val175Leu) c.349G>T (p.Val117Leu) c.526+23718G>T (n.526+23718G>T) | |
6 | g.136869900T>A | CA365763948 | PEX7 | c.644T>A (p.Val215Glu) c.332T>A c.530T>A (p.Val177Glu) c.649T>A (n.649T>A) c.524T>A (p.Val175Glu) c.350T>A (p.Val117Glu) c.526+23719T>A (n.526+23719T>A) | |
6 | g.136869900T>C | CA365763949 | PEX7 | c.644T>C (p.Val215Ala) c.332T>C c.530T>C (p.Val177Ala) c.649T>C (n.649T>C) c.524T>C (p.Val175Ala) c.350T>C (p.Val117Ala) c.526+23719T>C (n.526+23719T>C) | |
6 | g.136869900T>G | CA365763950 | PEX7 | c.644T>G (p.Val215Gly) c.332T>G c.530T>G (p.Val177Gly) c.649T>G (n.649T>G) c.524T>G (p.Val175Gly) c.350T>G (p.Val117Gly) c.526+23719T>G (n.526+23719T>G) | |
6 | g.136869901G>A | CA452227864 | PEX7 | c.645G>A (p.Val215=) c.333G>A c.531G>A (p.Val177=) c.650G>A (n.650G>A) c.525G>A (p.Val175=) c.351G>A (p.Val117=) c.526+23720G>A (n.526+23720G>A) | |
6 | g.136869901G>C | CA452227865 | PEX7 | c.645G>C (p.Val215=) c.333G>C c.531G>C (p.Val177=) c.650G>C (n.650G>C) c.525G>C (p.Val175=) c.351G>C (p.Val117=) c.526+23720G>C (n.526+23720G>C) | |
6 | g.136869901G>T | CA452227866 | PEX7 | c.645G>T (p.Val215=) c.333G>T c.531G>T (p.Val177=) c.650G>T (n.650G>T) c.525G>T (p.Val175=) c.351G>T (p.Val117=) c.526+23720G>T (n.526+23720G>T) | gnomAD v4 |
6 | g.136869902A>C | CA365763951 | PEX7 | c.646A>C (p.Thr216Pro) c.334A>C c.532A>C (p.Thr178Pro) c.651A>C (n.651A>C) c.526A>C (p.Thr176Pro) c.352A>C (p.Thr118Pro) c.526+23721A>C (n.526+23721A>C) | |
6 | g.136869902A>G | CA365763952 | PEX7 | c.646A>G (p.Thr216Ala) c.334A>G c.532A>G (p.Thr178Ala) c.651A>G (n.651A>G) c.526A>G (p.Thr176Ala) c.352A>G (p.Thr118Ala) c.526+23721A>G (n.526+23721A>G) | |
6 | g.136869902A>T | CA365763953 | PEX7 | c.646A>T (p.Thr216Ser) c.334A>T c.532A>T (p.Thr178Ser) c.651A>T (n.651A>T) c.526A>T (p.Thr176Ser) c.352A>T (p.Thr118Ser) c.526+23721A>T (n.526+23721A>T) | |
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 |