| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102852815G>T | CA386294527 | PAH | c.842C>A (p.Pro281His) c.827C>A (p.Pro276His) n.601C>A c.3C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102852815G>C | CA16020868 | PAH | c.842C>G (p.Pro281Arg) c.827C>G (p.Pro276Arg) n.601C>G c.3C>G | ClinVar dbSNP |
| 12 | g.102852815G>A | CA220589 | PAH | c.842C>T (p.Pro281Leu) c.827C>T (p.Pro276Leu) n.601C>T c.3C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |