| 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.136869890A>C | CA365763925 | PEX7 | c.634A>C (p.Asn212His) c.322A>C c.520A>C (p.Asn174His) c.639A>C (n.639A>C) c.514A>C (p.Asn172His) c.340A>C (p.Asn114His) c.526+23709A>C (n.526+23709A>C) | |
| 6 | g.136869890A>G | CA365763927 | PEX7 | c.634A>G (p.Asn212Asp) c.322A>G c.520A>G (p.Asn174Asp) c.639A>G (n.639A>G) c.514A>G (p.Asn172Asp) c.340A>G (p.Asn114Asp) c.526+23709A>G (n.526+23709A>G) | |
| 6 | g.136869890A>T | CA365763926 | PEX7 | c.634A>T (p.Asn212Tyr) c.322A>T c.520A>T (p.Asn174Tyr) c.639A>T (n.639A>T) c.514A>T (p.Asn172Tyr) c.340A>T (p.Asn114Tyr) c.526+23709A>T (n.526+23709A>T) | COSMIC |
| 6 | g.136869891A>C | CA365763928 | PEX7 | c.635A>C (p.Asn212Thr) c.323A>C c.521A>C (p.Asn174Thr) c.640A>C (n.640A>C) c.515A>C (p.Asn172Thr) c.341A>C (p.Asn114Thr) c.526+23710A>C (n.526+23710A>C) | |
| 6 | g.136869891A>G | CA365763929 | PEX7 | c.635A>G (p.Asn212Ser) c.323A>G c.521A>G (p.Asn174Ser) c.640A>G (n.640A>G) c.515A>G (p.Asn172Ser) c.341A>G (p.Asn114Ser) c.526+23710A>G (n.526+23710A>G) | |
| 6 | g.136869891A>T | CA365763930 | PEX7 | c.635A>T (p.Asn212Ile) c.323A>T c.521A>T (p.Asn174Ile) c.640A>T (n.640A>T) c.515A>T (p.Asn172Ile) c.341A>T (p.Asn114Ile) c.526+23710A>T (n.526+23710A>T) | |
| 6 | g.136869892T>A | CA365763931 | PEX7 | c.636T>A (p.Asn212Lys) c.324T>A c.522T>A (p.Asn174Lys) c.641T>A (n.641T>A) c.516T>A (p.Asn172Lys) c.342T>A (p.Asn114Lys) c.526+23711T>A (n.526+23711T>A) | |
| 6 | g.136869892T>C | CA452227857 | PEX7 | c.636T>C (p.Asn212=) c.324T>C c.522T>C (p.Asn174=) c.641T>C (n.641T>C) c.516T>C (p.Asn172=) c.342T>C (p.Asn114=) c.526+23711T>C (n.526+23711T>C) | ClinVar dbSNP gnomAD v4 |
| 6 | g.136869892T>G | CA365763932 | PEX7 | c.636T>G (p.Asn212Lys) c.324T>G c.522T>G (p.Asn174Lys) c.641T>G (n.641T>G) c.516T>G (p.Asn172Lys) c.342T>G (p.Asn114Lys) c.526+23711T>G (n.526+23711T>G) | gnomAD v4 |
| 6 | g.136869894dup | CA2580075138 | PEX7 | c.638dup (p.Leu213PhefsTer8) c.326dup c.524dup (p.Leu175PhefsTer8) c.643dup (n.643dup) c.518dup (p.Leu173PhefsTer8) c.344dup (p.Leu115PhefsTer8) c.526+23713dup (n.526+23713dup) | ClinVar |
| 6 | g.136869893T>A | CA365763933 | PEX7 | c.637T>A (p.Leu213Met) c.325T>A c.523T>A (p.Leu175Met) c.642T>A (n.642T>A) c.517T>A (p.Leu173Met) c.343T>A (p.Leu115Met) c.526+23712T>A (n.526+23712T>A) | |
| 6 | g.136869893T>C | CA452227858 | PEX7 | c.637T>C (p.Leu213=) c.325T>C c.523T>C (p.Leu175=) c.642T>C (n.642T>C) c.517T>C (p.Leu173=) c.343T>C (p.Leu115=) c.526+23712T>C (n.526+23712T>C) | |
| 6 | g.136869893T>G | CA365763934 | PEX7 | c.637T>G (p.Leu213Val) c.325T>G c.523T>G (p.Leu175Val) c.642T>G (n.642T>G) c.517T>G (p.Leu173Val) c.343T>G (p.Leu115Val) c.526+23712T>G (n.526+23712T>G) | |
| 6 | g.136869894T>A | CA365763935 | PEX7 | c.638T>A (p.Leu213Ter) c.326T>A c.524T>A (p.Leu175Ter) c.643T>A (n.643T>A) c.518T>A (p.Leu173Ter) c.344T>A (p.Leu115Ter) c.526+23713T>A (n.526+23713T>A) | |
| 6 | g.136869894T>C | CA365763937 | PEX7 | c.638T>C (p.Leu213Ser) c.326T>C c.524T>C (p.Leu175Ser) c.643T>C (n.643T>C) c.518T>C (p.Leu173Ser) c.344T>C (p.Leu115Ser) c.526+23713T>C (n.526+23713T>C) | |
| 6 | g.136869894T>G | CA365763936 | PEX7 | c.638T>G (p.Leu213Trp) c.326T>G c.524T>G (p.Leu175Trp) c.643T>G (n.643T>G) c.518T>G (p.Leu173Trp) c.344T>G (p.Leu115Trp) c.526+23713T>G (n.526+23713T>G) | |
| 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) |