| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.54865349T>G | CA254723 | GCH1 | c.431A>C (p.His144Pro) n.579A>C n.214A>C c.137A>C (p.His46Pro) | ClinVar dbSNP |
| 14 | g.54865349T>C | CA389789981 | GCH1 | c.431A>G (p.His144Arg) n.579A>G n.214A>G c.137A>G (p.His46Arg) | ClinVar dbSNP gnomAD v4 |
| 14 | g.54865349T= | CA2138227951 | GCH1 | c.431A= (p.His144=) n.579A= n.214A= c.137A= (p.His46=) | dbSNP |