| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102844424C>G | CA16020913 | PAH | c.977G>C (p.Trp326Ser) c.962G>C (p.Trp321Ser) n.736G>C n.639G>C c.81G>C n.492G>C c.920G>C (p.Trp307Ser) | ClinVar dbSNP |
| 12 | g.102844424C>T | CA229887 | PAH | c.977G>A (p.Trp326Ter) c.962G>A (p.Trp321Ter) n.736G>A n.639G>A c.81G>A n.492G>A c.920G>A (p.Trp307Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |