Resource of Asian Primary Immunodeficiency Diseases

RAPID Original

IGHM

SI.No	Mutation type	Mutation change	Mutation effects	Expt Name	PubMed
1	Deletion-Insertion	Genomic: g.1646_1650delTGACCinsCGG CDS: c.1130_1134delTGACCinsCGG AnimoAcid: p.Val377AlafsX7	Deletion-Insertion	Direct sequencing, PCR based assay	Ferrari S et al., 2007
2	Substitutions	Genomic: g.1813G>A CDS: AnimoAcid:	Substitutions	SSCP	Yel L et al., 1996
3	Substitutions	Genomic: g.1750T>G CDS: AnimoAcid:	Substitutions	SSCP	Yel L et al., 1996
4	Substitutions	Genomic: g.1813G>A CDS: AnimoAcid:	Substitutions	Direct sequencing, PCR based assay	Ferrari S et al., 2007
5	Deletion	Genomic: g.1073delA CDS: AnimoAcid:	Deletion	Direct sequencing, PCR based assay	Ferrari S et al., 2007