Resource of Asian Primary Immunodeficiency Diseases

RAPID Original

CD40

SI.No	Mutation type	Mutation change	Mutation effects	Expt Name	PubMed
1	Substitutions	Genomic: g.4083T>C CDS: c.247T>C AnimoAcid: p.Cys83Arg	Substitutions	Direct sequencing	Ferrari S et al., 2001
2	Substitutions	Genomic: g.4342A>T CDS: c.257-2A>T AnimoAcid:	Substitutions	Direct sequencing	Kutukculer N et al., 2003
3	Deletion	Genomic: g.10772_10775delTGAG CDS: c.832_834+1delTGAG AnimoAcid: p.*278Alaext*33	Deletion	Direct sequencing	Karaca NE et al., 2012