| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102852824G>T | CA229802 | PAH | c.833C>A (p.Thr278Asn) c.818C>A (p.Thr273Asn) n.592C>A | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852824G>A | CA229803 | PAH | c.833C>T (p.Thr278Ile) c.818C>T (p.Thr273Ile) n.592C>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852824G>C | CA16020867 | PAH | c.833C>G (p.Thr278Ser) c.818C>G (p.Thr273Ser) n.592C>G | ClinVar dbSNP |