| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102852942C>G | CA386295849 | PAH | c.715G>C (p.Gly239Arg) c.700G>C (p.Gly234Arg) n.474G>C | dbSNP gnomAD v4 |
| 12 | g.102852942C>T | CA229706 | PAH | c.715G>A (p.Gly239Ser) c.700G>A (p.Gly234Ser) n.474G>A | ClinVar dbSNP |
| 12 | g.102852942C= | CA2059446723 | PAH | c.715G= (p.Gly239=) c.700G= (p.Gly234=) n.474G= | dbSNP |