| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102855273A>G | CA229631 | PAH | c.569T>C (p.Val190Ala) c.554T>C (p.Val185Ala) n.665T>C | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 12 | g.102855273A>T | CA386296811 | PAH | c.569T>A (p.Val190Glu) c.554T>A (p.Val185Glu) n.665T>A | dbSNP gnomAD v4 |
| 12 | g.102855273A= | CA2059449617 | PAH | c.569T= (p.Val190=) c.554T= (p.Val185=) n.665T= | dbSNP |