| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.35577180G>C | CA8504895 | PEX12 | c.538C>G (p.Arg180Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.35577180G>A | CA119065 | PEX12 | c.538C>T (p.Arg180Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 17 | g.35577180G= | CA2257587773 | PEX12 | c.538C= (p.Arg180=) | dbSNP |