| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.102218918C>T | CA117479 | RRM2B | c.580G>A (p.Glu194Lys) c.424G>A (p.Glu142Lys) n.98G>A c.49-4760G>A (n.49-4760G>A) c.49-10633G>A (n.49-10633G>A) c.749G>A c.123-6029G>A (n.123-6029G>A) c.418G>A (p.Glu140Lys) c.796G>A (p.Glu266Lys) | ClinVar dbSNP |
| 8 | g.102218918C>G | CA4831048 | RRM2B | c.580G>C (p.Glu194Gln) c.424G>C (p.Glu142Gln) n.98G>C c.49-4760G>C (n.49-4760G>C) c.49-10633G>C (n.49-10633G>C) c.749G>C c.123-6029G>C (n.123-6029G>C) c.418G>C (p.Glu140Gln) c.796G>C (p.Glu266Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |