| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102852881G>A | CA229756 | PAH | c.776C>T (p.Ala259Val) c.761C>T (p.Ala254Val) n.535C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102852881G>C | CA386295500 | PAH | c.776C>G (p.Ala259Gly) c.761C>G (p.Ala254Gly) n.535C>G | ClinVar dbSNP |
| 12 | g.102852881G= | CA2059446459 | PAH | c.776C= (p.Ala259=) c.761C= (p.Ala254=) n.535C= | dbSNP |