| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.48349012T>A | CA16602773 | RB1 | c.596T>A (p.Leu199Ter) c.138-11005T>A (n.138-11005T>A) n.758T>A c.335T>A (p.Leu112Ter) | ClinVar dbSNP COSMIC |
| 13 | g.48349012T= | CA2089972494 | RB1 | c.596T= (p.Leu199=) c.138-11005T= (n.138-11005T=) n.758T= c.335T= (p.Leu112=) | dbSNP |