| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102894767T>G | CA386303990 | PAH | c.320A>C (p.His107Pro) c.305A>C (p.His102Pro) n.242A>C n.416A>C c.304A>C n.409A>C | ClinVar dbSNP |
| 12 | g.102894767T>C | CA354151 | PAH | c.320A>G (p.His107Arg) c.305A>G (p.His102Arg) n.242A>G n.416A>G c.304A>G n.409A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |