Resource of Asian Primary Immunodeficiency Diseases

RAPID Original

NHEJ1

SI.No	Mutation type	Mutation change	Mutation effects	Expt Name	PubMed
1	Substitutions	Genomic: g.2672C>G CDS: c.169C>G AnimoAcid: p.Arg57Gly	Substitutions	Direct sequencing	Buck D et al., 2006
2	Substitutions	Genomic: g.3371T>C CDS: c.367T>C AnimoAcid: p.Cys123Arg	Substitutions	Direct sequencing	Buck D et al., 2006
3	Substitutions	Genomic: g.14130C>T CDS: c.532C>T AnimoAcid: p.Arg178X	Substitutions	Direct sequencing	Buck D et al., 2006
4	Deletion	Genomic: g.2680delG CDS: c.177delG AnimoAcid: p.Lys59fs	Deletion	Direct sequencing	Buck D et al., 2006
5	Substitutions	Genomic: g.2683A>T CDS: c.177+3A>T AnimoAcid:	Substitutions	Direct sequencing	Buck D et al., 2006
6	Duplications	Genomic: g.2514dupT CDS: c.11dupT AnimoAcid: p.Leu4fs	Duplications	Direct sequencing	Ahnesorg P et al., 2006
7	Substitutions	Genomic: g.2672C>G CDS: c.169C>G AnimoAcid: p.Arg57Gly	Substitutions	Direct sequencing, PCR based assay	Dutrannoy V et al., 2010
8	Duplications	Genomic: g.13175dupA CDS: c.495dupA AnimoAcid: p.Asp166ArgfsX20	Duplications	Direct sequencing, PCR based assay	Dutrannoy V et al., 2010
9	Deletion	Genomic: g.(2504-?)_3394+?del1884 CDS: c.(1-?)_390+?del AnimoAcid:	Deletion	Direct sequencing, PCR based assay	Dutrannoy V et al., 2010
10	Deletion	Genomic: g.(1-?)_3394+?del6954 CDS: c.(1-?)_390+?del AnimoAcid:	Deletion	Direct sequencing, PCR based assay	Dutrannoy V et al., 2010
11	Substitutions	Genomic: g.13206C>T CDS: c.526C>T AnimoAcid: p.Arg176X	Substitutions	Direct sequencing, PCR based assay	Dutrannoy V et al., 2010
12	Substitutions	Genomic: g.14130C>T CDS: c.532C>T AnimoAcid: p.Arg178X	Substitutions	Direct sequencing, PCR based assay	Dutrannoy V et al., 2010
13	Substitutions	Genomic: g.14130C>T CDS: c.532C>T AnimoAcid: p.Arg178X	Substitutions	Direct sequencing	Turul T et al., 2011