| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.136822725C>G | CA16041009 | PEX7 | c.60C>G (p.Tyr20Ter) | ClinVar dbSNP |
| 6 | g.136822725C>T | CA452374694 | PEX7 | c.60C>T (p.Tyr20=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.136822725C= | CA3135552375 | PEX7 | c.60C= (p.Tyr20=) | dbSNP |