| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.48381414C>A | CA483559644 | RB1 | c.1666C>A (p.Arg556=) c.165C>A c.1405C>A (p.Arg469=) | dbSNP |
| 13 | g.48381414C>G | CA388163988 | RB1 | c.1666C>G (p.Arg556Gly) c.165C>G c.1405C>G (p.Arg469Gly) | dbSNP |
| 13 | g.48381414C>T | CA026386 | RB1 | c.1666C>T (p.Arg556Ter) c.165C>T c.1405C>T (p.Arg469Ter) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |