| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177211629C>T | CA362322953 | NSD1 | c.2357C>T (p.Ser786Leu) n.612+7337C>T n.2813C>T c.2921C>T (p.Ser974Leu) n.2627C>T c.3230C>T (p.Ser1077Leu) n.3377C>T c.2423C>T (p.Ser808Leu) c.2810C>T (p.Ser937Leu) c.2174C>T (p.Ser725Leu) c.-766C>T (n.-766C>T) | dbSNP |
| 5 | g.177211629C>G | CA16618171 | NSD1 | c.2357C>G (p.Ser786Ter) n.612+7337C>G n.2813C>G c.2921C>G (p.Ser974Ter) n.2627C>G c.3230C>G (p.Ser1077Ter) n.3377C>G c.2423C>G (p.Ser808Ter) c.2810C>G (p.Ser937Ter) c.2174C>G (p.Ser725Ter) c.-766C>G (n.-766C>G) | ClinVar dbSNP |