| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.50999214C>T | CA236249368 | SLC11A2 | c.722G>A (p.Gly241Asp) c.623G>A (p.Gly208Asp) c.*220G>A (n.*220G>A) n.43-4584G>A c.671G>A (p.Gly224Asp) c.635G>A (p.Gly212Asp) c.205G>A c.389G>A (p.Gly130Asp) c.398G>A (p.Gly133Asp) c.*438G>A (n.*438G>A) n.352G>A n.700G>A n.775G>A c.524G>A (p.Gly175Asp) n.832G>A n.750G>A n.758G>A n.668G>A n.743G>A n.748G>A | dbSNP gnomAD v4 |
| 12 | g.50999214C>A | CA120097 | SLC11A2 | c.722G>T (p.Gly241Val) c.623G>T (p.Gly208Val) c.*220G>T (n.*220G>T) n.43-4584G>T c.671G>T (p.Gly224Val) c.635G>T (p.Gly212Val) c.205G>T c.389G>T (p.Gly130Val) c.398G>T (p.Gly133Val) c.*438G>T (n.*438G>T) n.352G>T n.700G>T n.775G>T c.524G>T (p.Gly175Val) n.832G>T n.750G>T n.758G>T n.668G>T n.743G>T n.748G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |