| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177239864del | CA294870 | NSD1 | c.3428del (p.Lys1143SerfsTer12) n.3884del c.3992del (p.Lys1331SerfsTer12) n.3698del c.*46del (n.*46del) n.4448del c.4301del (p.Lys1434SerfsTer12) c.3494del (p.Lys1165SerfsTer12) c.441del (n.441del) c.3881del (p.Lys1294SerfsTer12) c.3245del (p.Lys1082SerfsTer12) c.35del (p.Lys12SerfsTer12) | ClinVar dbSNP |
| 5 | g.177239864dup | CA319731 | NSD1 | c.3428dup (p.Cys1144ValfsTer3) n.3884dup c.3992dup (p.Cys1332ValfsTer3) n.3698dup c.*46dup (n.*46dup) n.4448dup c.4301dup (p.Cys1435ValfsTer3) c.3494dup (p.Cys1166ValfsTer3) c.441dup (n.441dup) c.3881dup (p.Cys1295ValfsTer3) c.3245dup (p.Cys1083ValfsTer3) c.35dup (p.Cys13ValfsTer3) | ClinVar dbSNP |