| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.158652154C>T | CA210569 | GFM1,LXN | c.748C>T (p.Arg250Trp) c.805C>T (p.Arg269Trp) c.362-5945G>A c.631C>T (p.Arg211Trp) c.523C>T (p.Arg175Trp) c.289C>T (p.Arg97Trp) c.181C>T (p.Arg61Trp) c.64C>T (p.Arg22Trp) n.856C>T n.401C>T n.739C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.158652154C>G | CA355176717 | GFM1,LXN | c.748C>G (p.Arg250Gly) c.805C>G (p.Arg269Gly) c.362-5945G>C c.631C>G (p.Arg211Gly) c.523C>G (p.Arg175Gly) c.289C>G (p.Arg97Gly) c.181C>G (p.Arg61Gly) c.64C>G (p.Arg22Gly) n.856C>G n.401C>G n.739C>G | dbSNP |