| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.37060964dup | CA267567 | NIPBL | c.7806dup (p.Asn2603Ter) c.7659dup (p.Asn2554Ter) c.263+1799dup (n.263+1799dup) n.1688dup c.1-3614dup (n.1-3614dup) c.7062dup (p.Asn2355Ter) c.7608dup (p.Asn2537Ter) c.7425dup (p.Asn2476Ter) c.7146dup (p.Asn2383Ter) c.6189dup (p.Asn2064Ter) c.6180dup (p.Asn2061Ter) | ClinVar dbSNP |
| 5 | g.37060964T= | CA3123355190 | NIPBL | c.7806T= (p.Ala2602=) c.7659T= (p.Ala2553=) c.263+1799T= (n.263+1799T=) n.1688T= c.1-3614T= (n.1-3614T=) c.7062T= (p.Ala2354=) c.7608T= (p.Ala2536=) c.7425T= (p.Ala2475=) c.7146T= (p.Ala2382=) c.6189T= (p.Ala2063=) c.6180T= (p.Ala2060=) | dbSNP |