| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.136505384del | CA122443 | NOTCH1 | n.2319del c.4512del (p.Cys1505ValfsTer?) c.4398del (p.Cys1467ValfsTer?) c.4392del (p.Cys1465ValfsTer?) c.2109del (p.Cys704ValfsTer?) c.*1912del (n.*1912del) c.*2121del (n.*2121del) n.1325del c.*3748del (n.*3748del) c.3813del (p.Cys1272ValfsTer?) c.3789del (p.Cys1264ValfsTer?) | ClinVar dbSNP |
| 9 | g.136505384G= | CA3165345368 | NOTCH1 | n.2319C= c.4512C= (p.His1504=) c.4398C= (p.His1466=) c.4392C= (p.His1464=) c.2109C= (p.His703=) c.*1912C= (n.*1912C=) c.*2121C= (n.*2121C=) n.1325C= c.*3748C= (n.*3748C=) c.3813C= (p.His1271=) c.3789C= (p.His1263=) | dbSNP dbSNP |