| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102855321A>T | CA6748896 | PAH | c.521T>A (p.Ile174Asn) c.506T>A (p.Ile169Asn) n.617T>A n.542T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102855321A>G | CA229604 | PAH | c.521T>C (p.Ile174Thr) c.506T>C (p.Ile169Thr) n.617T>C n.542T>C | ClinVar dbSNP |
| 12 | g.102855321A= | CA2059449854 | PAH | c.521T= (p.Ile174=) c.506T= (p.Ile169=) n.617T= n.542T= | dbSNP |