Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
14 | g.54902402G>A | CA254718 | GCH1 | c.262C>T (p.Arg88Trp) n.410C>T n.45C>T | ClinVar dbSNP |
14 | g.54902402G>T | CA7193646 | GCH1 | c.262C>A (p.Arg88=) n.410C>A n.45C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
14 | g.54902402G>C | CA7193647 | GCH1 | c.262C>G (p.Arg88Gly) n.410C>G n.45C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |