| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102852918C>G | CA229732 | PAH | c.739G>C (p.Gly247Arg) c.724G>C (p.Gly242Arg) n.498G>C | ClinVar dbSNP |
| 12 | g.102852918C>T | CA229730 | PAH | c.739G>A (p.Gly247Ser) c.724G>A (p.Gly242Ser) n.498G>A | ClinVar dbSNP COSMIC |
| 12 | g.102852918C= | CA2059446610 | PAH | c.739G= (p.Gly247=) c.724G= (p.Gly242=) n.498G= | dbSNP |