| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102852917C>T | CA229734 | PAH | c.740G>A (p.Gly247Asp) c.725G>A (p.Gly242Asp) n.499G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852917C>A | CA229736 | PAH | c.740G>T (p.Gly247Val) c.725G>T (p.Gly242Val) n.499G>T | ClinVar dbSNP gnomAD v4 |
| 12 | g.102852917C= | CA2059446602 | PAH | c.740G= (p.Gly247=) c.725G= (p.Gly242=) n.499G= | dbSNP |