| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.48345108G>T | CA026454 | RB1 | c.409G>T (p.Glu137Ter) c.138-14909G>T (n.138-14909G>T) n.571G>T c.148G>T (p.Glu50Ter) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.48345108G>A | CA388252654 | RB1 | c.409G>A (p.Glu137Lys) c.138-14909G>A (n.138-14909G>A) n.571G>A c.148G>A (p.Glu50Lys) | dbSNP |
| 13 | g.48345108G>C | CA388252655 | RB1 | c.409G>C (p.Glu137Gln) c.138-14909G>C (n.138-14909G>C) n.571G>C c.148G>C (p.Glu50Gln) | dbSNP |