| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.48362859C>G | CA388159356 | RB1 | c.763C>G (p.Arg255Gly) c.*131C>G (n.*131C>G) c.502C>G (p.Arg168Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.48362859C>T | CA026466 | RB1 | c.763C>T (p.Arg255Ter) c.*131C>T (n.*131C>T) c.502C>T (p.Arg168Ter) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.48362859C>A | CA483557865 | RB1 | c.763C>A (p.Arg255=) c.*131C>A (n.*131C>A) c.502C>A (p.Arg168=) | ClinVar dbSNP |
| 13 | g.48362859C= | CA2089981473 | RB1 | c.763C= (p.Arg255=) c.*131C= (n.*131C=) c.502C= (p.Arg168=) | dbSNP |