| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102852941C>A | CA229711 | PAH | c.716G>T (p.Gly239Val) c.701G>T (p.Gly234Val) n.475G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852941C>G | CA229709 | PAH | c.716G>C (p.Gly239Ala) c.701G>C (p.Gly234Ala) n.475G>C | ClinVar dbSNP |
| 12 | g.102852941C>T | CA229707 | PAH | c.716G>A (p.Gly239Asp) c.701G>A (p.Gly234Asp) n.475G>A | ClinVar dbSNP |