| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102866632C>G | CA229571 | PAH | c.473G>C (p.Arg158Pro) c.458G>C (p.Arg153Pro) n.569G>C n.530+10830G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102866632C>T | CA251530 | PAH | c.473G>A (p.Arg158Gln) c.458G>A (p.Arg153Gln) n.569G>A n.530+10830G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |