| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.54844108A>G | CA120278 | GCH1 | c.662T>C (p.Met221Thr) n.810T>C n.293-1054T>C c.627-1054T>C (n.627-1054T>C) c.627-239T>C (n.627-239T>C) c.368T>C (p.Met123Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.54844108A= | CA2138218205 | GCH1 | c.662T= (p.Met221=) n.810T= n.293-1054T= c.627-1054T= (n.627-1054T=) c.627-239T= (n.627-239T=) c.368T= (p.Met123=) | dbSNP |