| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177292121C>T | CA447740779 | NSD1 | c.5553C>T (p.Tyr1851=) c.1068C>T (p.Tyr356=) n.6009C>T n.842C>T c.6117C>T (p.Tyr2039=) n.5823C>T c.6426C>T (p.Tyr2142=) c.5619C>T (p.Tyr1873=) n.568C>T c.1920C>T (p.Tyr640=) c.6006C>T (p.Tyr2002=) c.5370C>T (p.Tyr1790=) c.2160C>T (p.Tyr720=) | dbSNP gnomAD v4 |
| 5 | g.177292121C>G | CA16611860 | NSD1 | c.5553C>G (p.Tyr1851Ter) c.1068C>G (p.Tyr356Ter) n.6009C>G n.842C>G c.6117C>G (p.Tyr2039Ter) n.5823C>G c.6426C>G (p.Tyr2142Ter) c.5619C>G (p.Tyr1873Ter) n.568C>G c.1920C>G (p.Tyr640Ter) c.6006C>G (p.Tyr2002Ter) c.5370C>G (p.Tyr1790Ter) c.2160C>G (p.Tyr720Ter) | ClinVar dbSNP |