| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177211692del | CA294849 | NSD1 | c.2420del (p.Thr807LysfsTer?) n.612+7400del n.2876del c.2984del (p.Thr995LysfsTer?) n.2690del c.3293del (p.Thr1098LysfsTer?) n.3440del c.2486del (p.Thr829LysfsTer?) c.2873del (p.Thr958LysfsTer?) c.2237del (p.Thr746LysfsTer?) c.-703del (n.-703del) | ClinVar dbSNP |
| 5 | g.177211692C= | CA3123573834 | NSD1 | c.2420C= (p.Thr807=) n.612+7400C= n.2876C= c.2984C= (p.Thr995=) n.2690C= c.3293C= (p.Thr1098=) n.3440C= c.2486C= (p.Thr829=) c.2873C= (p.Thr958=) c.2237C= (p.Thr746=) c.-703C= (n.-703C=) | dbSNP dbSNP |