| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102844338G>A | CA229313 | PAH | c.1063C>T (p.Gln355Ter) c.1048C>T (p.Gln350Ter) n.822C>T n.725C>T c.167C>T n.578C>T c.1006C>T (p.Gln336Ter) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102844338G= | CA2059448001 | PAH | c.1063C= (p.Gln355=) c.1048C= (p.Gln350=) n.822C= n.725C= c.167C= n.578C= c.1006C= (p.Gln336=) | dbSNP |