| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.48453032C>A | CA483558164 | RB1 | c.1735C>A (p.Arg579=) c.194+71589C>A n.434C>A c.1474C>A (p.Arg492=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.48453032C>G | CA388165507 | RB1 | c.1735C>G (p.Arg579Gly) c.194+71589C>G n.434C>G c.1474C>G (p.Arg492Gly) | dbSNP |
| 13 | g.48453032C>T | CA026398 | RB1 | c.1735C>T (p.Arg579Ter) c.194+71589C>T n.434C>T c.1474C>T (p.Arg492Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |