| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177210446_177210447del | CA915942721 | NSD1 | c.1174_1175del (p.Lys392AspfsTer5) c.1174_1175del (p.Lys392AspfsTer?) n.612+6154_612+6155del c.991_992del (p.Lys331AspfsTer?) n.1630_1631del c.1738_1739del (p.Lys580AspfsTer5) n.1444_1445del c.2047_2048del (p.Lys683AspfsTer5) n.2194_2195del c.*1140_*1141del (n.*1140_*1141del) c.1240_1241del (p.Lys414AspfsTer5) c.1627_1628del (p.Lys543AspfsTer5) c.991_992del (p.Lys331AspfsTer5) c.-1949_-1948del (n.-1949_-1948del) | ClinVar dbSNP |
| 5 | g.177210447del | CA294816 | NSD1 | c.1175del (p.Lys392ArgfsTer2) n.612+6155del c.992del (p.Lys331ArgfsTer2) n.1631del c.1739del (p.Lys580ArgfsTer2) n.1445del c.2048del (p.Lys683ArgfsTer2) n.2195del c.*1141del (n.*1141del) c.1241del (p.Lys414ArgfsTer2) c.1628del (p.Lys543ArgfsTer2) c.-1948del (n.-1948del) | ClinVar dbSNP |