Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.37051871T>CCA3237118NIPBLc.7047T>C (p.Tyr2349=)
c.6303T>C (p.Tyr2101=)
c.6849T>C (p.Tyr2283=)
c.6666T>C (p.Tyr2222=)
c.6387T>C (p.Tyr2129=)
c.5430T>C (p.Tyr1810=)
c.5421T>C (p.Tyr1807=)
n.929T>C
c.1-12707T>C (p.=)
ClinVar dbSNP ExAC gnomAD
5g.37051871T>GCA267219NIPBLc.7047T>G (p.Tyr2349Ter)
c.6303T>G (p.Tyr2101Ter)
c.6849T>G (p.Tyr2283Ter)
c.6666T>G (p.Tyr2222Ter)
c.6387T>G (p.Tyr2129Ter)
c.5430T>G (p.Tyr1810Ter)
c.5421T>G (p.Tyr1807Ter)
n.929T>G
c.1-12707T>G (p.=)
ClinVar dbSNP

Number of alleles fetched