| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.102212829G>A | CA117474 | RRM2B | c.850C>T (p.Gln284Ter) n.237C>T c.694C>T (p.Gln232Ter) n.368C>T c.214C>T (p.Gln72Ter) c.49-4544C>T (n.49-4544C>T) c.1019C>T c.183C>T (n.183C>T) c.688C>T (p.Gln230Ter) c.1066C>T (p.Gln356Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.102212829G>C | CA371587829 | RRM2B | c.850C>G (p.Gln284Glu) n.237C>G c.694C>G (p.Gln232Glu) n.368C>G c.214C>G (p.Gln72Glu) c.49-4544C>G (n.49-4544C>G) c.1019C>G c.183C>G (n.183C>G) c.688C>G (p.Gln230Glu) c.1066C>G (p.Gln356Glu) | dbSNP gnomAD v4 |
| 8 | g.102212829G= | CA1806676553 | RRM2B | c.850C= (p.Gln284=) n.237C= c.694C= (p.Gln232=) n.368C= c.214C= (p.Gln72=) c.49-4544C= (n.49-4544C=) c.1019C= c.183C= (n.183C=) c.688C= (p.Gln230=) c.1066C= (p.Gln356=) | dbSNP |