Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.36985287_36985288delCA272001NIPBLc.2107_2108del (p.Pro703LysfsTer5)
c.1363_1364del (p.Pro455LysfsTer5)
c.1447_1448del (p.Pro483LysfsTer5)
c.490_491del (p.Pro164LysfsTer5)
c.1495+8885_1495+8886del (p.=)
n.1727_1728del
c.1-79291_1-79290del (p.=)
ClinVar dbSNP
5g.36985288delCA272002NIPBLc.2108del (p.Pro703GlnfsTer?)
c.1364del (p.Pro455GlnfsTer?)
c.1448del (p.Pro483GlnfsTer?)
c.491del (p.Pro164GlnfsTer?)
c.1495+8886del (p.=)
n.1728del
c.1-79290del (p.=)
ClinVar dbSNP dbSNP

Number of alleles fetched