| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177283796A>T | CA10654757 | NSD1 | c.5146A>T (p.Ile1716Phe) c.661A>T (p.Ile221Phe) n.5602A>T c.5710A>T (p.Ile1904Phe) n.5416A>T n.6166A>T n.4568A>T c.6019A>T (p.Ile2007Phe) c.5212A>T (p.Ile1738Phe) c.1513A>T (p.Ile505Phe) c.5599A>T (p.Ile1867Phe) c.4963A>T (p.Ile1655Phe) c.1753A>T (p.Ile585Phe) | ClinVar dbSNP |
| 5 | g.177283796A= | CA1603553483 | NSD1 | c.5146A= (p.Ile1716=) c.661A= (p.Ile221=) n.5602A= c.5710A= (p.Ile1904=) n.5416A= n.6166A= n.4568A= c.6019A= (p.Ile2007=) c.5212A= (p.Ile1738=) c.1513A= (p.Ile505=) c.5599A= (p.Ile1867=) c.4963A= (p.Ile1655=) c.1753A= (p.Ile585=) | dbSNP |