| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.102212862C>T | CA278600 | RRM2B | c.817G>A (p.Gly273Ser) n.204G>A c.661G>A (p.Gly221Ser) n.335G>A c.181G>A (p.Gly61Ser) c.49-4577G>A (n.49-4577G>A) c.986G>A c.150G>A (n.150G>A) c.655G>A (p.Gly219Ser) c.1033G>A (p.Gly345Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.102212862C= | CA1806676564 | RRM2B | c.817G= (p.Gly273=) n.204G= c.661G= (p.Gly221=) n.335G= c.181G= (p.Gly61=) c.49-4577G= (n.49-4577G=) c.986G= c.150G= (n.150G=) c.655G= (p.Gly219=) c.1033G= (p.Gly345=) | dbSNP |