| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.171114119G>A | CA1240703 | FMO3 | c.940G>A (p.Glu314Lys) c.751G>A (p.Glu251Lys) c.880G>A (p.Glu294Lys) c.193G>A (p.Glu65Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.171114119G>T | CA257486 | FMO3 | c.940G>T (p.Glu314Ter) c.751G>T (p.Glu251Ter) c.880G>T (p.Glu294Ter) c.193G>T (p.Glu65Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.171114119G= | CA1140803248 | FMO3 | c.940G= (p.Glu314=) c.751G= (p.Glu251=) c.880G= (p.Glu294=) c.193G= (p.Glu65=) | dbSNP dbSNP |