| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.48456207T>C | CA483558281 | RB1 | c.1818T>C (p.Tyr606=) c.194+74764T>C n.517T>C c.1557T>C (p.Tyr519=) | dbSNP |
| 13 | g.48456207T>A | CA026402 | RB1 | c.1818T>A (p.Tyr606Ter) c.194+74764T>A n.517T>A c.1557T>A (p.Tyr519Ter) | ClinVar dbSNP COSMIC |
| 13 | g.48456207T= | CA2090016346 | RB1 | c.1818T= (p.Tyr606=) c.194+74764T= n.517T= c.1557T= (p.Tyr519=) | dbSNP |
| 13 | g.48456207T>G | CA388165695 | RB1 | c.1818T>G (p.Tyr606Ter) c.194+74764T>G n.517T>G c.1557T>G (p.Tyr519Ter) | ClinVar dbSNP COSMIC COSMIC |