Resource of Asian Primary Immunodeficiency Diseases

RAPID Original

CD19

SI.No	Mutation type	Mutation change	Mutation effects	Expt Name	PubMed
1	Duplications	Genomic: g.4239dupA CDS: c.971dupA AnimoAcid: p.Arg325fs	Duplications	Direct sequencing	van Zelm MC et al., 2006
2	Deletion	Genomic: g.5699_5700delGA CDS: c.1386_1387delGA AnimoAcid: p.Asn463fs	Deletion	Direct sequencing	van Zelm MC et al., 2006
3	Substitutions	Genomic: g.4214G>T CDS: c.947-1G>T AnimoAcid:	Substitutions	Direct sequencing	Kanegane H et al., 2007
4	Deletion	Genomic: chr16:g.(?_28889809)_(28977785_?)del (NCBI Build 37.1) CDS: AnimoAcid:	Deletion	FISH	Kanegane H et al., 2007
5	Deletion	Genomic: g.5865delC CDS: c.1464delC AnimoAcid: p.Ser489AlafsX14	Deletion	Direct sequencing	Vince N et al., 2011
6	Deletion-Insertion	Genomic: g.7004_7034delins28 CDS: c.1653_1674+6delins28 AnimoAcid: p.Gly552fsX24	Deletion-Insertion	Direct sequencing	Vince N et al., 2011
7	Substitutions	Genomic: g.475G>C CDS: c.156G>C AnimoAcid: p.Trp52Cys	Substitutions	Direct sequencing	van Zelm MC et al., 2011