| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177211466C>A | CA447960798 | NSD1 | c.2194C>A (p.Arg732=) n.612+7174C>A n.2650C>A c.2758C>A (p.Arg920=) n.2464C>A c.3067C>A (p.Arg1023=) n.3214C>A c.2260C>A (p.Arg754=) c.2647C>A (p.Arg883=) c.2011C>A (p.Arg671=) c.-929C>A (n.-929C>A) | dbSNP COSMIC COSMIC |
| 5 | g.177211466C>T | CA294839 | NSD1 | c.2194C>T (p.Arg732Ter) n.612+7174C>T n.2650C>T c.2758C>T (p.Arg920Ter) n.2464C>T c.3067C>T (p.Arg1023Ter) n.3214C>T c.2260C>T (p.Arg754Ter) c.2647C>T (p.Arg883Ter) c.2011C>T (p.Arg671Ter) c.-929C>T (n.-929C>T) | ClinVar dbSNP |