| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102852816G>C | CA267678 | PAH | c.841C>G (p.Pro281Ala) c.826C>G (p.Pro276Ala) n.600C>G c.2C>G | ClinVar dbSNP |
| 12 | g.102852816G>A | CA220587 | PAH | c.841C>T (p.Pro281Ser) c.826C>T (p.Pro276Ser) n.600C>T c.2C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102852816G>T | CA386294528 | PAH | c.841C>A (p.Pro281Thr) c.826C>A (p.Pro276Thr) n.600C>A c.2C>A | dbSNP gnomAD v4 |