| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177209709C>G | CA281537 | NSD1 | c.437C>G (p.Ser146Ter) n.612+5417C>G c.254C>G (p.Ser85Ter) n.893C>G c.1001C>G (p.Ser334Ter) n.707C>G c.1310C>G (p.Ser437Ter) n.1457C>G c.*403C>G (n.*403C>G) c.*619C>G (n.*619C>G) c.503C>G (p.Ser168Ter) c.890C>G (p.Ser297Ter) c.-2686C>G (n.-2686C>G) | ClinVar dbSNP |
| 5 | g.177209709C>A | CA362308521 | NSD1 | c.437C>A (p.Ser146Ter) n.612+5417C>A c.254C>A (p.Ser85Ter) n.893C>A c.1001C>A (p.Ser334Ter) n.707C>A c.1310C>A (p.Ser437Ter) n.1457C>A c.*403C>A (n.*403C>A) c.*619C>A (n.*619C>A) c.503C>A (p.Ser168Ter) c.890C>A (p.Ser297Ter) c.-2686C>A (n.-2686C>A) | dbSNP |
| 5 | g.177209709C= | CA1603472754 | NSD1 | c.437C= (p.Ser146=) n.612+5417C= c.254C= (p.Ser85=) n.893C= c.1001C= (p.Ser334=) n.707C= c.1310C= (p.Ser437=) n.1457C= c.*403C= (n.*403C=) c.*619C= (n.*619C=) c.503C= (p.Ser168=) c.890C= (p.Ser297=) c.-2686C= (n.-2686C=) | dbSNP |