| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.54902439G>A | CA260531752 | GCH1 | c.225C>T (p.Tyr75=) n.373C>T n.8C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.54902439G= | CA2138251505 | GCH1 | c.225C= (p.Tyr75=) n.373C= n.8C= | dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.54902439G>A | CA260531752 | GCH1 | c.225C>T (p.Tyr75=) n.373C>T n.8C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.54902439G= | CA2138251505 | GCH1 | c.225C= (p.Tyr75=) n.373C= n.8C= | dbSNP |