| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102852868G>C | CA229760 | PAH | c.789C>G (p.Phe263Leu) c.774C>G (p.Phe258Leu) n.548C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852868G>T | CA386295393 | PAH | c.789C>A (p.Phe263Leu) c.774C>A (p.Phe258Leu) n.548C>A | ClinVar dbSNP |
| 12 | g.102852868G>A | CA481331472 | PAH | c.789C>T (p.Phe263=) c.774C>T (p.Phe258=) n.548C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |