| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102843684G>A | CA6748733 | PAH | c.1161C>T (p.Tyr387=) c.1146C>T (p.Tyr382=) n.920C>T n.823C>T c.265C>T n.676C>T c.1104C>T (p.Tyr368=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843684G>C | CA386493193 | PAH | c.1161C>G (p.Tyr387Ter) c.1146C>G (p.Tyr382Ter) n.920C>G n.823C>G c.265C>G n.676C>G c.1104C>G (p.Tyr368Ter) | ClinVar dbSNP |
| 12 | g.102843684G>T | CA16020953 | PAH | c.1161C>A (p.Tyr387Ter) c.1146C>A (p.Tyr382Ter) n.920C>A n.823C>A c.265C>A n.676C>A c.1104C>A (p.Tyr368Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |