| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102844410A>G | CA229894 | PAH | c.991T>C (p.Phe331Leu) c.976T>C (p.Phe326Leu) n.750T>C n.653T>C c.95T>C n.506T>C c.934T>C (p.Phe312Leu) | ClinVar dbSNP COSMIC |
| 12 | g.102844410A= | CA2059448478 | PAH | c.991T= (p.Phe331=) c.976T= (p.Phe326=) n.750T= n.653T= c.95T= n.506T= c.934T= (p.Phe312=) | dbSNP |