| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.102226031C>A | CA321318 | RRM2B | c.208G>T (p.Asp70Tyr) c.52G>T (p.Asp18Tyr) n.517G>T c.49-11873G>T (n.49-11873G>T) c.48+12796G>T (n.48+12796G>T) c.377G>T c.122+6200G>T (n.122+6200G>T) c.*131G>T (n.*131G>T) c.46G>T (p.Asp16Tyr) c.424G>T (p.Asp142Tyr) | ClinVar dbSNP gnomAD v4 COSMIC |
| 8 | g.102226031C>T | CA345565 | RRM2B | c.208G>A (p.Asp70Asn) c.52G>A (p.Asp18Asn) n.517G>A c.49-11873G>A (n.49-11873G>A) c.48+12796G>A (n.48+12796G>A) c.377G>A c.122+6200G>A (n.122+6200G>A) c.*131G>A (n.*131G>A) c.46G>A (p.Asp16Asn) c.424G>A (p.Asp142Asn) | ClinVar dbSNP gnomAD v4 |