| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.48463758T>C | CA026423 | RB1 | c.2134T>C (p.Cys712Arg) c.194+82315T>C c.1873T>C (p.Cys625Arg) | ClinVar dbSNP |
| 13 | g.48463758T>G | CA388167063 | RB1 | c.2134T>G (p.Cys712Gly) c.194+82315T>G c.1873T>G (p.Cys625Gly) | ClinVar dbSNP |
| 13 | g.48463758T>A | CA388167062 | RB1 | c.2134T>A (p.Cys712Ser) c.194+82315T>A c.1873T>A (p.Cys625Ser) | ClinVar dbSNP |