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Table 2 Strong candidate variants in sporadic cases

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

No Inheritance* Gene Genotype Chr Exon nucleotide amino acid Mutation Type Reference EVS In-house Class
430 AD PRPF31 Hetero 19 1 c.310G > A p.E104K nonsynonymous Novel - - II
432 AD PRPH2 Hetero 6 1 c.380A > G p.E127G nonsynonymous Novel - - II
436 AR PDE6B Compound hetero 4 8 c.832C > T p.H278Y nonsynonymous rs121918581 - - Ι
1 c.32G > A p.W11X nonsense Novel - - II
438 AR USH2A Compound hetero 1 42 c.8885 T > G p.L2962R nonsynonymous Novel - - II
18 c.4460G > A p.W1487X nonsense Novel - - II
439 AR EYS Compound hetero 6 8 c.1750G > T p.E584X nonsense Novel - - II
26 c.4958_4959insA p.S1653fs frameshift insertion Novel - - II
440 AR EYS Compound hetero 6 29 c.6557G > A p.G2186E nonsynonymous 10 Littink - - Ι
26 c.4958_4959insA p.S1653fs frameshift insertion Novel - - II
445 AR PDE6B Compound hetero 4 8 c.832C > T p.H278Y nonsynonymous rs121918581 - - I
8 c.767 T > A p.I256N nonsynonymous Novel - - II
  1. *Inheritance is not inferred from pedigrees of the patients. These patients stated that there is no affected individual in their family tree other than indexed patients. Inheritance pattern described the results suggested by sequencing data
  2. In-house: Korean normal reference consisting of 192 exomes
  3. Chr chromosome; AD Autosomal dominant; AR Autosomal recessive; X-L X-linked