| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.48459708C>A | CA483558985 | RB1 | c.1981C>A (p.Arg661=) c.194+78265C>A c.1720C>A (p.Arg574=) | dbSNP |
| 13 | g.48459708C>G | CA388166702 | RB1 | c.1981C>G (p.Arg661Gly) c.194+78265C>G c.1720C>G (p.Arg574Gly) | dbSNP |
| 13 | g.48459708C>T | CA026417 | RB1 | c.1981C>T (p.Arg661Trp) c.194+78265C>T c.1720C>T (p.Arg574Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |