Table 3 of Xiao, Mol Vis 2019; 25:35-46.


Table 3. Identified variants in recessive inheritance, population frequencies, and in silico predictions of pathogenic function.

Family Gene Nucleotide /Amino acid change Previously
reported Variant type ExAC
frequency SIFT Polyphen2 MT Genotypes
HDIV    
RP-F1 EYS NM_001292009:exon44: rs111991705 Missense 0.0098 T P N Heterozygous
    c.8422G>A:p.Ala2808Thr              
  EYS NM_001292009:exon38: Novel Missense Absent D D D Heterozygous
    c.7492G>C:p.Ala2498Pro              
RP-F2 EYS NM_001292009:exon41: PMID:24652164 Nonsense Absent . . . Homozygous
    c.8012T>A:p.Leu2671X              
  EYS NM_001292009:exon31: PMID:25753737 Missense 0.00005274 D D D Homozygous
    c.6416G>A:p.Cys2139Tyr              
  RPGR NM_000328:exon11 rs182345461 Missense 0.0001 T D N Homozygous
    c.C1282G:p.Leu428Val              
RP-F3 EYS NM_001292009:exon41: PMID:24652164 Nonsense Absent . . . Heterozygous
    c.8012T>A:p.Leu2671X              
  EYS NM_001292009:exon31: PMID: 25,753,737 Missense 0.00005274 D D D Heterozygous
    c.6416G>A:p.Cys2139Tyr