Resource of Asian Primary Immunodeficiency Diseases

RAPID Original

CD247

SI.No	Mutation type	Mutation change	Mutation effects	Expt Name	PubMed
1	Substitutions	Genomic: g.79256C>T CDS: c.208C>T AnimoAcid: p.Gln70X	Substitutions	Fluorescent sequencing	Rieux-Laucat F et al., 2006
2	Insertion	Genomic: g.85575_85576insC CDS: c.417_418insC AnimoAcid: p.Asp139fs	Insertion	Direct sequencing	Roberts JL et al., 2007