| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.36975910del | CA271955 | NIPBL | c.1003del (p.Glu335LysfsTer13) n.623del c.1-88668del (n.1-88668del) c.259del (p.Glu87LysfsTer13) c.343del (p.Glu115LysfsTer13) | ClinVar dbSNP |
| 5 | g.36975910G= | CA1539569080 | NIPBL | c.1003G= (p.Glu335=) n.623G= c.1-88668G= (n.1-88668G=) c.259G= (p.Glu87=) c.343G= (p.Glu115=) | dbSNP dbSNP |