| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.102218917T>C | CA345596 | RRM2B | c.581A>G (p.Glu194Gly) c.425A>G (p.Glu142Gly) n.99A>G c.49-4759A>G (n.49-4759A>G) c.49-10632A>G (n.49-10632A>G) c.750A>G c.123-6028A>G (n.123-6028A>G) c.419A>G (p.Glu140Gly) c.797A>G (p.Glu266Gly) | ClinVar dbSNP gnomAD v4 |
| 8 | g.102218917T= | CA1806678348 | RRM2B | c.581A= (p.Glu194=) c.425A= (p.Glu142=) n.99A= c.49-4759A= (n.49-4759A=) c.49-10632A= (n.49-10632A=) c.750A= c.123-6028A= (n.123-6028A=) c.419A= (p.Glu140=) c.797A= (p.Glu266=) | dbSNP |