| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102852912del | CA16020850 | PAH | c.745del (p.Leu249PhefsTer?) c.730del (p.Leu244PhefsTer?) n.504del | ClinVar dbSNP |
| 12 | g.102852912G= | CA2059446581 | PAH | c.745C= (p.Leu249=) c.730C= (p.Leu244=) n.504C= | dbSNP dbSNP |