| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.48465028G>C | CA388167546 | RB1 | c.2242G>C (p.Glu748Gln) c.194+83585G>C c.1981G>C (p.Glu661Gln) | dbSNP |
| 13 | g.48465028G>T | CA026433 | RB1 | c.2242G>T (p.Glu748Ter) c.194+83585G>T c.1981G>T (p.Glu661Ter) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.48465028G>A | CA388167545 | RB1 | c.2242G>A (p.Glu748Lys) c.194+83585G>A c.1981G>A (p.Glu661Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |