| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.48463741G>A | CA388167022 | RB1 | c.2117G>A (p.Cys706Tyr) c.194+82298G>A c.1856G>A (p.Cys619Tyr) | dbSNP gnomAD v4 |
| 13 | g.48463741G>T | CA16602774 | RB1 | c.2117G>T (p.Cys706Phe) c.194+82298G>T c.1856G>T (p.Cys619Phe) | ClinVar dbSNP COSMIC |
| 13 | g.48463741G>C | CA388167023 | RB1 | c.2117G>C (p.Cys706Ser) c.194+82298G>C c.1856G>C (p.Cys619Ser) | dbSNP |