| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102844404G>A | CA114366 | PAH | c.997C>T (p.Leu333Phe) c.982C>T (p.Leu328Phe) n.756C>T n.659C>T c.101C>T n.512C>T c.940C>T (p.Leu314Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102844404G= | CA2059448438 | PAH | c.997C= (p.Leu333=) c.982C= (p.Leu328=) n.756C= n.659C= c.101C= n.512C= c.940C= (p.Leu314=) | dbSNP |