| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.102225012G>A | CA345571 | RRM2B | c.328C>T (p.Arg110Cys) c.172C>T (p.Arg58Cys) c.49-10854C>T (n.49-10854C>T) c.48+13815C>T (n.48+13815C>T) c.497C>T c.122+7219C>T (n.122+7219C>T) c.*251C>T (n.*251C>T) c.166C>T (p.Arg56Cys) c.544C>T (p.Arg182Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.102225012G= | CA1806681689 | RRM2B | c.328C= (p.Arg110=) c.172C= (p.Arg58=) c.49-10854C= (n.49-10854C=) c.48+13815C= (n.48+13815C=) c.497C= c.122+7219C= (n.122+7219C=) c.*251C= (n.*251C=) c.166C= (p.Arg56=) c.544C= (p.Arg182=) | dbSNP |