| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102852875C>T | CA251528 | PAH | c.782G>A (p.Arg261Gln) c.767G>A (p.Arg256Gln) n.541G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102852875C>A | CA386295444 | PAH | c.782G>T (p.Arg261Leu) c.767G>T (p.Arg256Leu) n.541G>T | ClinVar dbSNP |
| 12 | g.102852875C>G | CA229759 | PAH | c.782G>C (p.Arg261Pro) c.767G>C (p.Arg256Pro) n.541G>C | ClinVar dbSNP gnomAD v4 |