| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102866612C>T | CA229579 | PAH | c.493G>A (p.Ala165Thr) c.478G>A (p.Ala160Thr) n.589G>A n.530+10850G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102866612C>G | CA229581 | PAH | c.493G>C (p.Ala165Pro) c.478G>C (p.Ala160Pro) n.589G>C n.530+10850G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |