| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102852819C>T | CA251525 | PAH | c.838G>A (p.Glu280Lys) c.823G>A (p.Glu275Lys) n.597G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.102852819C>G | CA229805 | PAH | c.838G>C (p.Glu280Gln) c.823G>C (p.Glu275Gln) n.597G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102852819C= | CA2059446068 | PAH | c.838G= (p.Glu280=) c.823G= (p.Glu275=) n.597G= | dbSNP |