| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102843661G>C | CA286498 | PAH | c.1184C>G (p.Ala395Gly) c.1169C>G (p.Ala390Gly) n.943C>G n.846C>G c.288C>G n.699C>G c.1127C>G (p.Ala376Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843661G>T | CA229374 | PAH | c.1184C>A (p.Ala395Asp) c.1169C>A (p.Ala390Asp) n.943C>A n.846C>A c.288C>A n.699C>A c.1127C>A (p.Ala376Asp) | ClinVar dbSNP |