Skip to main content

Table 3 Patients with known mutations used to validate the novel genetic approach for retinal disorders

From: Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases

Index Phenotype Gene Mutation Allele State Read reference NGS Read variant NGS Mutation detected by NGS Mean depth
CIC00034, F28 adRP PRPF31 c.666dup
het 11 13 yes 21.3-22.5
CIC00140, F108 adRP PRPF31 c.997delG
het - - no 5.0-5.2
CIC00238, F165 arCSNB TRPM1 c.1418G > C
homo 0 38 yes 36.7
CIC00707, F470 Best and adCSNB see Table 5 BEST1 c.73C > T
het 40 38 yes 99.4