| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102840472C>T | CA114364 | PAH | c.1243G>A (p.Asp415Asn) c.1228G>A (p.Asp410Asn) n.905G>A c.347G>A n.758G>A c.1186G>A (p.Asp396Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102840472C>A | CA16020978 | PAH | c.1243G>T (p.Asp415Tyr) c.1228G>T (p.Asp410Tyr) n.905G>T c.347G>T n.758G>T c.1186G>T (p.Asp396Tyr) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102840472C= | CA2059441785 | PAH | c.1243G= (p.Asp415=) c.1228G= (p.Asp410=) n.905G= c.347G= n.758G= c.1186G= (p.Asp396=) | dbSNP |
| 12 | g.102840472C>G | CA386493053 | PAH | c.1243G>C (p.Asp415His) c.1228G>C (p.Asp410His) n.905G>C c.347G>C n.758G>C c.1186G>C (p.Asp396His) | dbSNP |