| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102844359G>C | CA220576 | PAH | c.1042C>G (p.Leu348Val) c.1027C>G (p.Leu343Val) n.801C>G n.704C>G c.146C>G n.557C>G c.985C>G (p.Leu329Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102844359G= | CA2059448115 | PAH | c.1042C= (p.Leu348=) c.1027C= (p.Leu343=) n.801C= n.704C= c.146C= n.557C= c.985C= (p.Leu329=) | dbSNP |