| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177280641del | CA16618181 | NSD1 | c.4826del (p.Thr1609MetfsTer8) c.341del (p.Thr114MetfsTer8) n.5282del n.448del c.5390del (p.Thr1797MetfsTer8) n.5096del n.5846del n.2618del c.5699del (p.Thr1900MetfsTer8) c.4892del (p.Thr1631MetfsTer8) c.1193del (p.Thr398MetfsTer8) c.5279del (p.Thr1760MetfsTer8) c.4643del (p.Thr1548MetfsTer8) c.1433del (p.Thr478MetfsTer8) | ClinVar dbSNP |
| 5 | g.177280641C= | CA3124061259 | NSD1 | c.4826C= (p.Thr1609=) c.341C= (p.Thr114=) n.5282C= n.448C= c.5390C= (p.Thr1797=) n.5096C= n.5846C= n.2618C= c.5699C= (p.Thr1900=) c.4892C= (p.Thr1631=) c.1193C= (p.Thr398=) c.5279C= (p.Thr1760=) c.4643C= (p.Thr1548=) c.1433C= (p.Thr478=) | dbSNP |