| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.136822746C>G | CA16041010 | PEX7 | c.81C>G (p.Tyr27Ter) | ClinVar dbSNP |
| 6 | g.136822746C>T | CA452374707 | PEX7 | c.81C>T (p.Tyr27=) | ClinVar dbSNP gnomAD v4 |
| 6 | g.136822746C= | CA3135552376 | PEX7 | c.81C= (p.Tyr27=) | dbSNP |