Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.177211544_177211545dup | CA2499217771 | NSD1 | c.2272_2273dup (p.Thr759ArgfsTer8) n.612+7252_612+7253dup n.2728_2729dup c.2836_2837dup (p.Thr947ArgfsTer8) n.2542_2543dup c.3145_3146dup (p.Thr1050ArgfsTer8) n.3292_3293dup c.2338_2339dup (p.Thr781ArgfsTer8) c.2725_2726dup (p.Thr910ArgfsTer8) c.2089_2090dup (p.Thr698ArgfsTer8) c.-851_-850dup (n.-851_-850dup) | ClinVar dbSNP |
5 | g.177211545dup | CA319747 | NSD1 | c.2273dup (p.Thr759AspfsTer16) n.612+7253dup n.2729dup c.2837dup (p.Thr947AspfsTer16) n.2543dup c.3146dup (p.Thr1050AspfsTer16) n.3293dup c.2339dup (p.Thr781AspfsTer16) c.2726dup (p.Thr910AspfsTer16) c.2090dup (p.Thr698AspfsTer16) c.-850dup (n.-850dup) | ClinVar dbSNP |