| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.136505028C>T | CA5340542 | NOTCH1 | n.2470G>A c.4663G>A (p.Glu1555Lys) c.4549G>A (p.Glu1517Lys) c.4543G>A (p.Glu1515Lys) c.2260G>A (p.Glu754Lys) c.*2063G>A (n.*2063G>A) c.*2272G>A (n.*2272G>A) n.1476G>A c.*3899G>A (n.*3899G>A) c.3964G>A (p.Glu1322Lys) c.3940G>A (p.Glu1314Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 9 | g.136505028C>A | CA350320 | NOTCH1 | n.2470G>T c.4663G>T (p.Glu1555Ter) c.4549G>T (p.Glu1517Ter) c.4543G>T (p.Glu1515Ter) c.2260G>T (p.Glu754Ter) c.*2063G>T (n.*2063G>T) c.*2272G>T (n.*2272G>T) n.1476G>T c.*3899G>T (n.*3899G>T) c.3964G>T (p.Glu1322Ter) c.3940G>T (p.Glu1314Ter) | ClinVar dbSNP |
| 9 | g.136505028C= | CA3165532844 | NOTCH1 | n.2470G= c.4663G= (p.Glu1555=) c.4549G= (p.Glu1517=) c.4543G= (p.Glu1515=) c.2260G= (p.Glu754=) c.*2063G= (n.*2063G=) c.*2272G= (n.*2272G=) n.1476G= c.*3899G= (n.*3899G=) c.3964G= (p.Glu1322=) c.3940G= (p.Glu1314=) | dbSNP |