| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.76983530T>A | CA371556880 | PEX2 | c.649A>T (p.Lys217Ter) | |
| 8 | g.76983530T>C | CA371556878 | PEX2 | c.649A>G (p.Lys217Glu) | |
| 8 | g.76983530T>G | CA371556879 | PEX2 | c.649A>C (p.Lys217Gln) | |
| 8 | g.76983531C>A | CA371556881 | PEX2 | c.648G>T (p.Leu216Phe) | |
| 8 | g.76983531C= | CA1795351115 | PEX2 | c.648G= (p.Leu216=) | |
| 8 | g.76983531C>G | CA4788673 | PEX2 | c.648G>C (p.Leu216Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.76983531C>T | CA461773290 | PEX2 | c.648G>A (p.Leu216=) | COSMIC |
| 8 | g.76983532A>C | CA371556882 | PEX2 | c.647T>G (p.Leu216Trp) | |
| 8 | g.76983532A>G | CA371556883 | PEX2 | c.647T>C (p.Leu216Ser) | |
| 8 | g.76983532A>T | CA371556884 | PEX2 | c.647T>A (p.Leu216Ter) | |
| 8 | g.76983533A>C | CA371556885 | PEX2 | c.646T>G (p.Leu216Val) | |
| 8 | g.76983533A>G | CA461773292 | PEX2 | c.646T>C (p.Leu216=) | gnomAD v4 COSMIC |
| 8 | g.76983533A>T | CA371556886 | PEX2 | c.646T>A (p.Leu216Met) | |
| 8 | g.76983534C>A | CA371556887 | PEX2 | c.645G>T (p.Lys215Asn) | |
| 8 | g.76983534C>G | CA371556888 | PEX2 | c.645G>C (p.Lys215Asn) | |
| 8 | g.76983534C>T | CA461773294 | PEX2 | c.645G>A (p.Lys215=) | |
| 8 | g.76983535T>A | CA371556889 | PEX2 | c.644A>T (p.Lys215Met) | |
| 8 | g.76983535T>C | CA371556890 | PEX2 | c.644A>G (p.Lys215Arg) | |
| 8 | g.76983535T>G | CA371556891 | PEX2 | c.644A>C (p.Lys215Thr) | |
| 8 | g.76983536del | CA2687718860 | PEX2 | c.644del (p.Lys215SerfsTer2) | gnomAD v4 |
| 8 | g.76983536T>A | CA371556894 | PEX2 | c.643A>T (p.Lys215Ter) | |
| 8 | g.76983536T>C | CA371556893 | PEX2 | c.643A>G (p.Lys215Glu) | gnomAD v4 |
| 8 | g.76983536T>G | CA371556892 | PEX2 | c.643A>C (p.Lys215Gln) | |
| 8 | g.76983536_76983537delinsTC | CA1795351117 | PEX2 | c.642_643delinsGA (p.Gln214=) | |
| 8 | g.76983537del | CA179988258 | PEX2 | c.642del (p.Lys215SerfsTer2) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.76983537C>A | CA371556895 | PEX2 | c.642G>T (p.Gln214His) | |
| 8 | g.76983537C= | CA1795351123 | PEX2 | c.642G= (p.Gln214=) | |
| 8 | g.76983537C>G | CA371556896 | PEX2 | c.642G>C (p.Gln214His) | dbSNP |
| 8 | g.76983537C>T | CA461773297 | PEX2 | c.642G>A (p.Gln214=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983538T>A | CA371556897 | PEX2 | c.641A>T (p.Gln214Leu) | COSMIC |
| 8 | g.76983538T>C | CA371556898 | PEX2 | c.641A>G (p.Gln214Arg) | gnomAD v4 |
| 8 | g.76983538T>G | CA371556899 | PEX2 | c.641A>C (p.Gln214Pro) | |
| 8 | g.76983539G>A | CA371556900 | PEX2 | c.640C>T (p.Gln214Ter) | COSMIC |
| 8 | g.76983539G>C | CA371556901 | PEX2 | c.640C>G (p.Gln214Glu) | |
| 8 | g.76983539G>T | CA371556902 | PEX2 | c.640C>A (p.Gln214Lys) | |
| 8 | g.76983540G>A | CA461773300 | PEX2 | c.639C>T (p.Val213=) | ClinVar dbSNP |
| 8 | g.76983540G>C | CA461773301 | PEX2 | c.639C>G (p.Val213=) | dbSNP |
| 8 | g.76983540G= | CA1795351129 | PEX2 | c.639C= (p.Val213=) | |
| 8 | g.76983540G>T | CA461773302 | PEX2 | c.639C>A (p.Val213=) | |
| 8 | g.76983541A>C | CA371556903 | PEX2 | c.638T>G (p.Val213Gly) | |
| 8 | g.76983541A>G | CA371556904 | PEX2 | c.638T>C (p.Val213Ala) | |
| 8 | g.76983541A>T | CA371556905 | PEX2 | c.638T>A (p.Val213Asp) | |
| 8 | g.76983542C>A | CA371556907 | PEX2 | c.637G>T (p.Val213Phe) | |
| 8 | g.76983542C>G | CA371556908 | PEX2 | c.637G>C (p.Val213Leu) | |
| 8 | g.76983542C>T | CA371556906 | PEX2 | c.637G>A (p.Val213Ile) | |
| 8 | g.76983543A= | CA1795351131 | PEX2 | c.636T= (p.Asn212=) | |
| 8 | g.76983543A>C | CA371556909 | PEX2 | c.636T>G (p.Asn212Lys) | |
| 8 | g.76983543A>G | CA4788674 | PEX2 | c.636T>C (p.Asn212=) | dbSNP ExAC gnomAD v2 |
| 8 | g.76983543A>T | CA371556910 | PEX2 | c.636T>A (p.Asn212Lys) | |
| 8 | g.76983545_76983548del | CA2687718861 | PEX2 | c.633_636del (p.Ile211MetfsTer5) | gnomAD v4 |