| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.54845843C>T | CA120283 | GCH1 | c.551G>A (p.Arg184His) n.699G>A n.293-2789G>A c.257G>A (p.Arg86His) | ClinVar dbSNP gnomAD v4 |
| 14 | g.54845843C= | CA2138218990 | GCH1 | c.551G= (p.Arg184=) n.699G= n.293-2789G= c.257G= (p.Arg86=) | dbSNP |
| 14 | g.54845843C>A | CA389787404 | GCH1 | c.551G>T (p.Arg184Leu) n.699G>T n.293-2789G>T c.257G>T (p.Arg86Leu) | dbSNP gnomAD v4 |