| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.136513049G>C | CA10602397 | NOTCH1 | n.246C>G n.62C>G c.2439C>G (p.Tyr813Ter) c.2325C>G (p.Tyr775Ter) c.*1675C>G (n.*1675C>G) c.1740C>G (p.Tyr580Ter) c.1716C>G (p.Tyr572Ter) | ClinVar dbSNP COSMIC COSMIC |
| 9 | g.136513049G>A | CA467833227 | NOTCH1 | n.246C>T n.62C>T c.2439C>T (p.Tyr813=) c.2325C>T (p.Tyr775=) c.*1675C>T (n.*1675C>T) c.1740C>T (p.Tyr580=) c.1716C>T (p.Tyr572=) | ClinVar dbSNP |
| 9 | g.136513049G= | CA3165921381 | NOTCH1 | n.246C= n.62C= c.2439C= (p.Tyr813=) c.2325C= (p.Tyr775=) c.*1675C= (n.*1675C=) c.1740C= (p.Tyr580=) c.1716C= (p.Tyr572=) | dbSNP |