CR2
Primary Info
Mutation
Mouse studies
DNA sequencing


SI.No Mutation type Mutation change Mutation effects Expt Name PubMed
1 Substitutions Genomic: g.15804G>C
CDS: c.1225+1G>C
AnimoAcid: 		Substitutions Direct sequencing, PCR based assay Thiel J et al., 2011
2 Substitutions Genomic: g.19998G>A
CDS: c.2297G>A
AnimoAcid: p.Trp766X		 Substitutions Direct sequencing, PCR based assay Thiel J et al., 2011