| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102843649A>G | CA267634 | PAH | c.1196T>C (p.Val399Ala) c.1181T>C (p.Val394Ala) n.955T>C n.858T>C c.300T>C n.711T>C c.1139T>C (p.Val380Ala) | ClinVar dbSNP |
| 12 | g.102843649A= | CA2059446318 | PAH | c.1196T= (p.Val399=) c.1181T= (p.Val394=) n.955T= n.858T= c.300T= n.711T= c.1139T= (p.Val380=) | dbSNP |