Resource of Asian Primary Immunodeficiency Diseases

RAPID Original

CD81

SI.No	Mutation type	Mutation change	Mutation effects	Expt Name	PubMed
1	Substitutions	Genomic: g.18655G>A CDS: c.561+1G>A AnimoAcid: p.Glu188MetfsX13	Substitutions	Direct sequencing, PCR based assay	van Zelm MC et al., 2010