| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102852903G>T | CA481331533 | PAH | c.754C>A (p.Arg252=) c.739C>A (p.Arg247=) n.513C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852903G>A | CA251529 | PAH | c.754C>T (p.Arg252Trp) c.739C>T (p.Arg247Trp) n.513C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852903G>C | CA229742 | PAH | c.754C>G (p.Arg252Gly) c.739C>G (p.Arg247Gly) n.513C>G | ClinVar dbSNP |