| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.136898213T>A | CA340698 | PEX7 | c.875T>A (p.Leu292Ter) c.*140T>A (n.*140T>A) c.563T>A c.761T>A (p.Leu254Ter) c.755T>A (p.Leu252Ter) c.581T>A (p.Leu194Ter) c.598T>A (p.Ter200Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.136898213T= | CA2838019266 | PEX7 | c.875T= (p.Leu292=) c.*140T= (n.*140T=) c.563T= c.761T= (p.Leu254=) c.755T= (p.Leu252=) c.581T= (p.Leu194=) c.598T= (p.Ter200=) | dbSNP |