| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102855231T>C | CA229653 | PAH | c.611A>G (p.Tyr204Cys) c.596A>G (p.Tyr199Cys) n.707A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855231T>A | CA386296713 | PAH | c.611A>T (p.Tyr204Phe) c.596A>T (p.Tyr199Phe) n.707A>T | dbSNP |
| 12 | g.102855231T= | CA2059449473 | PAH | c.611A= (p.Tyr204=) c.596A= (p.Tyr199=) n.707A= | dbSNP |