| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177260151G>T | CA16042514 | NSD1 | c.4256G>T (p.Cys1419Phe) n.4712G>T c.4820G>T (p.Cys1607Phe) n.4526G>T n.5276G>T c.5129G>T (p.Cys1710Phe) c.4322G>T (p.Cys1441Phe) c.623G>T (p.Cys208Phe) c.4709G>T (p.Cys1570Phe) c.4073G>T (p.Cys1358Phe) c.863G>T (p.Cys288Phe) | ClinVar dbSNP |
| 5 | g.177260151G= | CA1603527290 | NSD1 | c.4256G= (p.Cys1419=) n.4712G= c.4820G= (p.Cys1607=) n.4526G= n.5276G= c.5129G= (p.Cys1710=) c.4322G= (p.Cys1441=) c.623G= (p.Cys208=) c.4709G= (p.Cys1570=) c.4073G= (p.Cys1358=) c.863G= (p.Cys288=) | dbSNP |