| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177294333dup | CA16042601 | NSD1 | c.6092dup (p.Ala2032GlyfsTer?) c.1607dup (p.Ala537GlyfsTer?) n.6548dup n.1381dup c.6656dup (p.Ala2220GlyfsTer?) n.6362dup c.6965dup (p.Ala2323GlyfsTer?) c.6158dup (p.Ala2054GlyfsTer?) c.2459dup (p.Ala821GlyfsTer?) c.6545dup (p.Ala2183GlyfsTer?) c.5909dup (p.Ala1971GlyfsTer?) c.2699dup (p.Ala901GlyfsTer?) | ClinVar dbSNP |
| 5 | g.177294333T= | CA3124061296 | NSD1 | c.6092T= (p.Val2031=) c.1607T= (p.Val536=) n.6548T= n.1381T= c.6656T= (p.Val2219=) n.6362T= c.6965T= (p.Val2322=) c.6158T= (p.Val2053=) c.2459T= (p.Val820=) c.6545T= (p.Val2182=) c.5909T= (p.Val1970=) c.2699T= (p.Val900=) | dbSNP dbSNP |