| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102855233G>A | CA229649 | PAH | c.609C>T (p.Cys203=) c.594C>T (p.Cys198=) n.705C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855233G>C | CA229647 | PAH | c.609C>G (p.Cys203Trp) c.594C>G (p.Cys198Trp) n.705C>G | ClinVar dbSNP |
| 12 | g.102855233G= | CA2059449495 | PAH | c.609C= (p.Cys203=) c.594C= (p.Cys198=) n.705C= | dbSNP |