| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.48367521G>T | CA16614439 | RB1 | c.967G>T (p.Glu323Ter) c.706G>T (p.Glu236Ter) n.122-2545C>A | ClinVar dbSNP COSMIC |
| 13 | g.48367521G>A | CA388160657 | RB1 | c.967G>A (p.Glu323Lys) c.706G>A (p.Glu236Lys) n.122-2545C>T | dbSNP |
| 13 | g.48367521G>C | CA388160658 | RB1 | c.967G>C (p.Glu323Gln) c.706G>C (p.Glu236Gln) n.122-2545C>G | dbSNP |