Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.102212833C>G | CA345612 | RRM2B | c.846G>C (p.Met282Ile) n.233G>C c.690G>C (p.Met230Ile) n.364G>C c.210G>C (p.Met70Ile) c.49-4548G>C (n.49-4548G>C) c.1015G>C c.179G>C (n.179G>C) c.684G>C (p.Met228Ile) c.1062G>C (p.Met354Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
8 | g.102212833C= | CA1806676555 | RRM2B | c.846G= (p.Met282=) n.233G= c.690G= (p.Met230=) n.364G= c.210G= (p.Met70=) c.49-4548G= (n.49-4548G=) c.1015G= c.179G= (n.179G=) c.684G= (p.Met228=) c.1062G= (p.Met354=) | dbSNP |