| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.76983629A>C | CA371557099 | PEX2 | c.550T>G (p.Cys184Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983629A>G | CA180286 | PEX2 | c.550T>C (p.Cys184Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.76983629A= | CA658683512 | PEX2 | c.550T= (p.Cys184=) | ClinVar dbSNP dbSNP dbSNP |