| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102852929C>T | CA251531 | PAH | c.728G>A (p.Arg243Gln) c.713G>A (p.Arg238Gln) n.487G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852929C>A | CA229719 | PAH | c.728G>T (p.Arg243Leu) c.713G>T (p.Arg238Leu) n.487G>T | ClinVar dbSNP |
| 12 | g.102852929C= | CA2059446670 | PAH | c.728G= (p.Arg243=) c.713G= (p.Arg238=) n.487G= | dbSNP |