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Table 1 Strong candidate variants in familiar cases

From: The diagnostic application of targeted re-sequencing in Korean patients with retinitis pigmentosa

Family Inheritance Gene Genotype Chr Exon nucleotide amino acid Mutation Type Reference EVS In-house Class
F03 AD RP1 Hetero 8 4 c.1455 T > G p.Y485X nonsense novel - - II
F04 X-L RP2 Hemi X 2 c.340 T > C p.C114R nonsynonymous novel - - II
F06 AD RP1 Hetero 8 4 c.2296C > T p.Q766X nonsense novel - - II
F07 AD PRPF31 Hetero 19 6 c.421-1G > A splicing Xia et al. [11] - - I
F09 AD RHO Hetero 3 5 c.1040C > T p.P347L nonsynonymous rs29001566 - - I
F10 AD KLHL7 Hetero 7 5 c.458C > T p.A153V nonsynonymous rs137853113 - - I
F12 X-L RP2 Hemi X 2 c.560_561delGC p.Ser187fs Frameshift deletion novel - - II
F13 AD RHO Hetero 3 3 c.533A > G p.Y178C nonsynonymous rs104893776 - - I
XF1 AD TOPORS Hetero 9 2 c.2344C > T p.R782X nonsense novel - 0.0052083 II
XF3 AD PRPF31 Hetero 19 10 c.1060C > T p.R354X nonsense Sullivan et al. [12] - - I
  1. Chr: chromosome; Homo: homozygous; Hetero: heterozygous; Hemi: hemizygous; AD: Autosomal Dominant; X-L X-linked
  2. In-house: Korean normal reference consisting of 192 exomes