| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.48379624C>G | CA388162595 | RB1 | c.1363C>G (p.Arg455Gly) c.1102C>G (p.Arg368Gly) n.40+211G>C | dbSNP |
| 13 | g.48379624C>T | CA026373 | RB1 | c.1363C>T (p.Arg455Ter) c.1102C>T (p.Arg368Ter) n.40+211G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 13 | g.48379624C>A | CA483559225 | RB1 | c.1363C>A (p.Arg455=) c.1102C>A (p.Arg368=) n.40+211G>T | dbSNP |