| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.48459721T>A | CA388166725 | RB1 | c.1994T>A (p.Leu665His) c.194+78278T>A c.1733T>A (p.Leu578His) | dbSNP |
| 13 | g.48459721T>G | CA026418 | RB1 | c.1994T>G (p.Leu665Arg) c.194+78278T>G c.1733T>G (p.Leu578Arg) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.48459721T>C | CA388166724 | RB1 | c.1994T>C (p.Leu665Pro) c.194+78278T>C c.1733T>C (p.Leu578Pro) | ClinVar dbSNP |
| 13 | g.48459721T= | CA2090007960 | RB1 | c.1994T= (p.Leu665=) c.194+78278T= c.1733T= (p.Leu578=) | dbSNP |