| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177211613C>G | CA362322851 | NSD1 | c.2341C>G (p.Arg781Gly) n.612+7321C>G n.2797C>G c.2905C>G (p.Arg969Gly) n.2611C>G c.3214C>G (p.Arg1072Gly) n.3361C>G c.2407C>G (p.Arg803Gly) c.2794C>G (p.Arg932Gly) c.2158C>G (p.Arg720Gly) c.-782C>G (n.-782C>G) | dbSNP |
| 5 | g.177211613C>T | CA294846 | NSD1 | c.2341C>T (p.Arg781Ter) n.612+7321C>T n.2797C>T c.2905C>T (p.Arg969Ter) n.2611C>T c.3214C>T (p.Arg1072Ter) n.3361C>T c.2407C>T (p.Arg803Ter) c.2794C>T (p.Arg932Ter) c.2158C>T (p.Arg720Ter) c.-782C>T (n.-782C>T) | ClinVar dbSNP |
| 5 | g.177211613C= | CA1603478411 | NSD1 | c.2341C= (p.Arg781=) n.612+7321C= n.2797C= c.2905C= (p.Arg969=) n.2611C= c.3214C= (p.Arg1072=) n.3361C= c.2407C= (p.Arg803=) c.2794C= (p.Arg932=) c.2158C= (p.Arg720=) c.-782C= (n.-782C=) | dbSNP |