| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102843688T>C | CA274152 | PAH | c.1157A>G (p.Tyr386Cys) c.1142A>G (p.Tyr381Cys) n.916A>G n.819A>G c.261A>G n.672A>G c.1100A>G (p.Tyr367Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843688T= | CA2059446503 | PAH | c.1157A= (p.Tyr386=) c.1142A= (p.Tyr381=) n.916A= n.819A= c.261A= n.672A= c.1100A= (p.Tyr367=) | dbSNP |
| 12 | g.102843688T>A | CA386493201 | PAH | c.1157A>T (p.Tyr386Phe) c.1142A>T (p.Tyr381Phe) n.916A>T n.819A>T c.261A>T n.672A>T c.1100A>T (p.Tyr367Phe) | dbSNP |