Resource of Asian Primary Immunodeficiency Diseases

RAPID Original

CSF2RA

SI.No	Mutation type	Mutation change	Mutation effects	Expt Name	PubMed
1	Substitutions	Genomic: g.21650G>A CDS: c.586G>A AnimoAcid: p.Gly196Arg	Substitutions	Direct sequencing	Suzuki T et al., 2008
2	Deletion	Genomic: chrX:g.(?_1 CDS: 308 AnimoAcid:	Deletion	Direct sequencing, SNP array analysis, FISH	Suzuki T et al., 2008