| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36234073G>A | CA274033 | CLTA,GNE | c.922C>T (p.Arg308Cys) c.652C>T (p.Arg218Cys) c.829C>T (p.Arg277Cys) c.486-29125G>A (n.486-29125G>A) c.499C>T (p.Arg167Cys) c.814C>T (p.Arg272Cys) c.769C>T (p.Arg257Cys) c.676C>T (p.Arg226Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 9 | g.36234073G>C | CA373430783 | CLTA,GNE | c.922C>G (p.Arg308Gly) c.652C>G (p.Arg218Gly) c.829C>G (p.Arg277Gly) c.486-29125G>C (n.486-29125G>C) c.499C>G (p.Arg167Gly) c.814C>G (p.Arg272Gly) c.769C>G (p.Arg257Gly) c.676C>G (p.Arg226Gly) | ClinVar dbSNP |