| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.48379594C>T | CA026371 | RB1 | c.1333C>T (p.Arg445Ter) c.1072C>T (p.Arg358Ter) n.40+241G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 13 | g.48379594C>G | CA388162531 | RB1 | c.1333C>G (p.Arg445Gly) c.1072C>G (p.Arg358Gly) n.40+241G>C | dbSNP |
| 13 | g.48379594C>A | CA483559204 | RB1 | c.1333C>A (p.Arg445=) c.1072C>A (p.Arg358=) n.40+241G>T | dbSNP |