| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177211490C>T | CA294842 | NSD1 | c.2218C>T (p.Arg740Ter) n.612+7198C>T n.2674C>T c.2782C>T (p.Arg928Ter) n.2488C>T c.3091C>T (p.Arg1031Ter) n.3238C>T c.2284C>T (p.Arg762Ter) c.2671C>T (p.Arg891Ter) c.2035C>T (p.Arg679Ter) c.-905C>T (n.-905C>T) | ClinVar dbSNP COSMIC COSMIC |
| 5 | g.177211490C>G | CA362321958 | NSD1 | c.2218C>G (p.Arg740Gly) n.612+7198C>G n.2674C>G c.2782C>G (p.Arg928Gly) n.2488C>G c.3091C>G (p.Arg1031Gly) n.3238C>G c.2284C>G (p.Arg762Gly) c.2671C>G (p.Arg891Gly) c.2035C>G (p.Arg679Gly) c.-905C>G (n.-905C>G) | dbSNP |
| 5 | g.177211490C= | CA1603477969 | NSD1 | c.2218C= (p.Arg740=) n.612+7198C= n.2674C= c.2782C= (p.Arg928=) n.2488C= c.3091C= (p.Arg1031=) n.3238C= c.2284C= (p.Arg762=) c.2671C= (p.Arg891=) c.2035C= (p.Arg679=) c.-905C= (n.-905C=) | dbSNP |