| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.44230578G>A | CA138375327 | POLR1C,SLC29A1 | c.600G>A (p.Glu200=) n.998G>A c.543G>A (p.Glu181=) c.287G>A n.789G>A c.837G>A (p.Glu279=) c.726G>A (p.Glu242=) c.678G>A (p.Glu226=) c.675G>A (p.Glu225=) c.729G>A (p.Glu243=) c.840G>A (p.Glu280=) c.946-211312G>A (n.946-211312G>A) | dbSNP |
| 6 | g.44230578G= | CA1624908430 | POLR1C,SLC29A1 | c.600G= (p.Glu200=) n.998G= c.543G= (p.Glu181=) c.287G= n.789G= c.837G= (p.Glu279=) c.726G= (p.Glu242=) c.678G= (p.Glu226=) c.675G= (p.Glu225=) c.729G= (p.Glu243=) c.840G= (p.Glu280=) c.946-211312G= (n.946-211312G=) | dbSNP |