| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177211053C>A | CA294829 | NSD1 | c.1781C>A (p.Ser594Ter) n.612+6761C>A n.2237C>A c.2345C>A (p.Ser782Ter) n.2051C>A c.2654C>A (p.Ser885Ter) n.2801C>A c.1847C>A (p.Ser616Ter) c.2234C>A (p.Ser745Ter) c.1598C>A (p.Ser533Ter) c.-1342C>A (n.-1342C>A) | ClinVar dbSNP |
| 5 | g.177211053C= | CA1603476783 | NSD1 | c.1781C= (p.Ser594=) n.612+6761C= n.2237C= c.2345C= (p.Ser782=) n.2051C= c.2654C= (p.Ser885=) n.2801C= c.1847C= (p.Ser616=) c.2234C= (p.Ser745=) c.1598C= (p.Ser533=) c.-1342C= (n.-1342C=) | dbSNP |