| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102844406C>T | CA229897 | PAH | c.995G>A (p.Gly332Glu) c.980G>A (p.Gly327Glu) n.754G>A n.657G>A c.99G>A n.510G>A c.938G>A (p.Gly313Glu) | ClinVar dbSNP |
| 12 | g.102844406C= | CA2059448448 | PAH | c.995G= (p.Gly332=) c.980G= (p.Gly327=) n.754G= n.657G= c.99G= n.510G= c.938G= (p.Gly313=) | dbSNP |