| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177283806G>T | CA362316190 | NSD1 | c.5156G>T (p.Gly1719Val) c.671G>T (p.Gly224Val) n.5612G>T c.5720G>T (p.Gly1907Val) n.5426G>T n.6176G>T n.4578G>T c.6029G>T (p.Gly2010Val) c.5222G>T (p.Gly1741Val) c.1523G>T (p.Gly508Val) c.5609G>T (p.Gly1870Val) c.4973G>T (p.Gly1658Val) c.1763G>T (p.Gly588Val) | ClinVar dbSNP |
| 5 | g.177283806G>A | CA16618185 | NSD1 | c.5156G>A (p.Gly1719Asp) c.671G>A (p.Gly224Asp) n.5612G>A c.5720G>A (p.Gly1907Asp) n.5426G>A n.6176G>A n.4578G>A c.6029G>A (p.Gly2010Asp) c.5222G>A (p.Gly1741Asp) c.1523G>A (p.Gly508Asp) c.5609G>A (p.Gly1870Asp) c.4973G>A (p.Gly1658Asp) c.1763G>A (p.Gly588Asp) | ClinVar dbSNP |