| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102843665C>G | CA229371 | PAH | c.1180G>C (p.Asp394His) c.1165G>C (p.Asp389His) n.939G>C n.842G>C c.284G>C n.695G>C c.1123G>C (p.Asp375His) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843665C>A | CA267632 | PAH | c.1180G>T (p.Asp394Tyr) c.1165G>T (p.Asp389Tyr) n.939G>T n.842G>T c.284G>T n.695G>T c.1123G>T (p.Asp375Tyr) | ClinVar dbSNP |
| 12 | g.102843665C= | CA2059446402 | PAH | c.1180G= (p.Asp394=) c.1165G= (p.Asp389=) n.939G= n.842G= c.284G= n.695G= c.1123G= (p.Asp375=) | dbSNP dbSNP |