Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.36985669C>GCA272018NIPBLc.2489C>G (p.Ser830Ter)
n.2109C>G
c.1-78909C>G (n.1-78909C>G)
c.1745C>G (p.Ser582Ter)
c.1829C>G (p.Ser610Ter)
c.872C>G (p.Ser291Ter)
c.1495+9267C>G (n.1495+9267C>G)
ClinVar dbSNP
5g.36985669C>TCA3236180NIPBLc.2489C>T (p.Ser830Leu)
n.2109C>T
c.1-78909C>T (n.1-78909C>T)
c.1745C>T (p.Ser582Leu)
c.1829C>T (p.Ser610Leu)
c.872C>T (p.Ser291Leu)
c.1495+9267C>T (n.1495+9267C>T)
dbSNP ExAC gnomAD v2

Number of alleles fetched