| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102852857T>A | CA354145 | PAH | c.800A>T (p.Gln267Leu) c.785A>T (p.Gln262Leu) n.559A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852857T>C | CA16020862 | PAH | c.800A>G (p.Gln267Arg) c.785A>G (p.Gln262Arg) n.559A>G | ClinVar dbSNP |
| 12 | g.102852857T= | CA2059446354 | PAH | c.800A= (p.Gln267=) c.785A= (p.Gln262=) n.559A= | dbSNP |