| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.102224909G>A | CA345586 | RRM2B | c.431C>T (p.Thr144Ile) c.275C>T (p.Thr92Ile) c.49-10751C>T (n.49-10751C>T) c.48+13918C>T (n.48+13918C>T) c.600C>T c.122+7322C>T (n.122+7322C>T) c.269C>T (p.Thr90Ile) c.647C>T (p.Thr216Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.102224909G>C | CA371592344 | RRM2B | c.431C>G (p.Thr144Ser) c.275C>G (p.Thr92Ser) c.49-10751C>G (n.49-10751C>G) c.48+13918C>G (n.48+13918C>G) c.600C>G c.122+7322C>G (n.122+7322C>G) c.269C>G (p.Thr90Ser) c.647C>G (p.Thr216Ser) | dbSNP |