| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.48452997C>T | CA026396 | RB1 | c.1700C>T (p.Ser567Leu) c.194+71554C>T n.399C>T c.1439C>T (p.Ser480Leu) | ClinVar dbSNP COSMIC COSMIC |
| 13 | g.48452997C>G | CA388165432 | RB1 | c.1700C>G (p.Ser567Ter) c.194+71554C>G n.399C>G c.1439C>G (p.Ser480Ter) | ClinVar dbSNP |
| 13 | g.48452997C= | CA2090014003 | RB1 | c.1700C= (p.Ser567=) c.194+71554C= n.399C= c.1439C= (p.Ser480=) | dbSNP |