| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.48377030C>A | CA16614041 | RB1 | c.1328C>A (p.Ser443Ter) c.1067C>A (p.Ser356Ter) n.41-2790G>T | ClinVar dbSNP |
| 13 | g.48377030C>G | CA388162186 | RB1 | c.1328C>G (p.Ser443Ter) c.1067C>G (p.Ser356Ter) n.41-2790G>C | dbSNP COSMIC COSMIC |
| 13 | g.48377030C>T | CA388162187 | RB1 | c.1328C>T (p.Ser443Leu) c.1067C>T (p.Ser356Leu) n.41-2790G>A | dbSNP COSMIC COSMIC |
| 13 | g.48377030C= | CA2089968278 | RB1 | c.1328C= (p.Ser443=) c.1067C= (p.Ser356=) n.41-2790G= | dbSNP |