| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.48456349G>A | CA026413 | RB1 | c.1960G>A (p.Val654Met) c.194+74906G>A c.1699G>A (p.Val567Met) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.48456349G>C | CA16614062 | RB1 | c.1960G>C (p.Val654Leu) c.194+74906G>C c.1699G>C (p.Val567Leu) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.48456349G>T | CA388166316 | RB1 | c.1960G>T (p.Val654Leu) c.194+74906G>T c.1699G>T (p.Val567Leu) | dbSNP COSMIC COSMIC |