| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.36976354_36976355del | CA271970 | NIPBL | c.1447_1448del (p.Glu483IlefsTer4) n.1067_1068del c.1-88224_1-88223del (n.1-88224_1-88223del) c.703_704del (p.Glu235IlefsTer4) c.787_788del (p.Glu263IlefsTer4) | ClinVar dbSNP |
| 5 | g.36976352_36976355del | CA267525 | NIPBL | c.1445_1448del (p.Arg482AsnfsTer20) n.1065_1068del c.1-88226_1-88223del (n.1-88226_1-88223del) c.701_704del (p.Arg234AsnfsTer20) c.785_788del (p.Arg262AsnfsTer20) c.1445_1448del (p.Arg482AsnfsTer19) | ClinVar dbSNP |