| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102844353A>T | CA229304 | PAH | c.1048T>A (p.Ser350Thr) c.1033T>A (p.Ser345Thr) n.807T>A n.710T>A c.152T>A n.563T>A c.991T>A (p.Ser331Thr) | ClinVar dbSNP |
| 12 | g.102844353A>G | CA386493409 | PAH | c.1048T>C (p.Ser350Pro) c.1033T>C (p.Ser345Pro) n.807T>C n.710T>C c.152T>C n.563T>C c.991T>C (p.Ser331Pro) | dbSNP |
| 12 | g.102844353A= | CA2059448066 | PAH | c.1048T= (p.Ser350=) c.1033T= (p.Ser345=) n.807T= n.710T= c.152T= n.563T= c.991T= (p.Ser331=) | dbSNP |