| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.48380062C>A | CA483559248 | RB1 | c.1399C>A (p.Arg467=) c.1138C>A (p.Arg380=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.48380062C>G | CA388162691 | RB1 | c.1399C>G (p.Arg467Gly) c.1138C>G (p.Arg380Gly) | ClinVar dbSNP |
| 13 | g.48380062C>T | CA026376 | RB1 | c.1399C>T (p.Arg467Ter) c.1138C>T (p.Arg380Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |