| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.61048535T>C | CA119011 | PEX13 | c.977T>C (p.Ile326Thr) c.860T>C (p.Ile287Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.61048535T>G | CA346949707 | PEX13 | c.977T>G (p.Ile326Arg) c.860T>G (p.Ile287Arg) | dbSNP gnomAD v4 |
| 2 | g.61048535T= | CA1255176329 | PEX13 | c.977T= (p.Ile326=) c.860T= (p.Ile287=) | dbSNP |
| 2 | g.61048535T>A | CA346949706 | PEX13 | c.977T>A (p.Ile326Lys) c.860T>A (p.Ile287Lys) | dbSNP gnomAD v4 |