| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102855169G>C | CA229686 | PAH | c.673C>G (p.Pro225Ala) c.658C>G (p.Pro220Ala) n.769C>G | ClinVar dbSNP gnomAD v4 |
| 12 | g.102855169G>T | CA229685 | PAH | c.673C>A (p.Pro225Thr) c.658C>A (p.Pro220Thr) n.769C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102855169G= | CA2059449194 | PAH | c.673C= (p.Pro225=) c.658C= (p.Pro220=) n.769C= | dbSNP |