| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.1699590G>A | CA2808239 | SLBP | c.453C>T (p.Tyr151=) c.474C>T (p.Tyr158=) c.336C>T (p.Tyr112=) c.475C>T c.317C>T c.348C>T (p.Tyr116=) n.4141C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.1699590G>C | CA355975762 | SLBP | c.453C>G (p.Tyr151Ter) c.474C>G (p.Tyr158Ter) c.336C>G (p.Tyr112Ter) c.475C>G c.317C>G c.348C>G (p.Tyr116Ter) n.4141C>G | dbSNP |
| 4 | g.1699590G= | CA1433431040 | SLBP | c.453C= (p.Tyr151=) c.474C= (p.Tyr158=) c.336C= (p.Tyr112=) c.475C= c.317C= c.348C= (p.Tyr116=) n.4141C= | dbSNP |
| 4 | g.1699590G>T | CA355975765 | SLBP | c.453C>A (p.Tyr151Ter) c.474C>A (p.Tyr158Ter) c.336C>A (p.Tyr112Ter) c.475C>A c.317C>A c.348C>A (p.Tyr116Ter) n.4141C>A | dbSNP |