| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.136504952dup | CA348408 | NOTCH1 | n.2546dup c.4739dup (p.Met1580IlefsTer30) c.4625dup (p.Met1542IlefsTer30) c.4619dup (p.Met1540IlefsTer30) c.2336dup (p.Met779IlefsTer30) c.*2139dup (n.*2139dup) c.*2348dup (n.*2348dup) n.1552dup c.*3975dup (n.*3975dup) c.4040dup (p.Met1347IlefsTer30) c.4016dup (p.Met1339IlefsTer30) | ClinVar dbSNP |
| 9 | g.136504952A= | CA3165601230 | NOTCH1 | n.2546T= c.4739T= (p.Met1580=) c.4625T= (p.Met1542=) c.4619T= (p.Met1540=) c.2336T= (p.Met779=) c.*2139T= (n.*2139T=) c.*2348T= (n.*2348T=) n.1552T= c.*3975T= (n.*3975T=) c.4040T= (p.Met1347=) c.4016T= (p.Met1339=) | dbSNP dbSNP |