| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.54902363C>T | CA16619875 | GCH1 | c.301G>A (p.Ala101Thr) n.449G>A n.84G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.54902363C= | CA2138251467 | GCH1 | c.301G= (p.Ala101=) n.449G= n.84G= | dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.54902363C>T | CA16619875 | GCH1 | c.301G>A (p.Ala101Thr) n.449G>A n.84G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.54902363C= | CA2138251467 | GCH1 | c.301G= (p.Ala101=) n.449G= n.84G= | dbSNP |