| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.54902489G>C | CA7193669 | GCH1 | c.175C>G (p.Arg59Gly) n.323C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.54902489G>A | CA389794070 | GCH1 | c.175C>T (p.Arg59Cys) n.323C>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.54902489G= | CA2138251538 | GCH1 | c.175C= (p.Arg59=) n.323C= | dbSNP |
| 14 | g.54902489G>T | CA389794068 | GCH1 | c.175C>A (p.Arg59Ser) n.323C>A | dbSNP gnomAD v4 |