| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.102224949C>T | CA345581 | RRM2B | c.391G>A (p.Glu131Lys) c.235G>A (p.Glu79Lys) c.49-10791G>A (n.49-10791G>A) c.48+13878G>A (n.48+13878G>A) c.560G>A c.122+7282G>A (n.122+7282G>A) c.*314G>A (n.*314G>A) c.229G>A (p.Glu77Lys) c.607G>A (p.Glu203Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.102224949C= | CA1806681668 | RRM2B | c.391G= (p.Glu131=) c.235G= (p.Glu79=) c.49-10791G= (n.49-10791G=) c.48+13878G= (n.48+13878G=) c.560G= c.122+7282G= (n.122+7282G=) c.*314G= (n.*314G=) c.229G= (p.Glu77=) c.607G= (p.Glu203=) | dbSNP |