| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102840493G>A | CA251523 | PAH | c.1222C>T (p.Arg408Trp) c.1207C>T (p.Arg403Trp) n.884C>T c.326C>T n.737C>T c.1165C>T (p.Arg389Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102840493G= | CA2059441944 | PAH | c.1222C= (p.Arg408=) c.1207C= (p.Arg403=) n.884C= c.326C= n.737C= c.1165C= (p.Arg389=) | dbSNP |