Table 2 of Siemiatkowska, Mol Vis 2011; 17:3013-3024.


Table 2. Homozygous regions and mutations identified in this study




Family

No. of
affected
individuals


SNP
array
Number of
homozygous
regions
> 3Mb



Rank

Genomic
position
(hg18)


Size
(Mb)
arRP
gene
in the
region


Mutation
(DNA)

Predicted
effect
(protein)
W09–0036 3 Affy 5.0 0            
W09–0037 2 Affy 5.0 1 1 Chr 1:43.472.727–47.007.137 3.5      
W09–0038 2 Affy 5.0 3 1 Chr 2:94.722.52–114.958.2396 20.2 MERTK complex rearrangement p.G654AfsX41
        2 Chr 2: 74.821.929–86.961.722 12.1      
        3 Chr 12: 46.563.980–50.101.308 3.5      
W09–0039 1 Affy 5.0 0            
W09–0040 5 Affy 5.0 0            
W09–0041 4 Ill 6k 1 1 Chr 15: 55.310.834–76.576.278 21.3 NR2E3 c.1025T>G p.V342G
W09–0042 2 Ill 6k 5 1 Chr 1: 88.202.625–114.480.309 26.3 ABCA4 c.302+4A>C Altered splicing
        2 Chr 13: 97.294.596–113.158.661 15.9      
        3 Chr 9: 7.717.818–18.877.591 11.2      
        4 Chr 19: 795.02–10.879.403 10.1      
        5 Chr 17: 68.734.433–74.980.093 6.2 PRCD    
W09–0044 1 Affy 5.0 0            
W09–0045 4 Affy 5.0 3 1 Chr 7: 25.394.592–32.791.157 7.4      
        2 Chr 2: 109.814.503–114.973.711 5.2 MERTK c.2487–2A>G Altered splicing
        3 Chr 1: 49.055.999–52.858.628 3.8      
W09–0046 3 Ill 6k 3 1 Chr 6: 7.426.927–76.965.256 69.5 EYS c.9082G>T p.D3028Y







TULP1

        2 Chr 5: 154.427.149- 164.983.908 10.6


        3 Chr 16: 37.354–4.720.263 4.7
   
W09–0047 2 Affy 5.0 2 1 Chr 5: 139.038.773–163.355.069 24.3 PDE6A c.1675C>A p.Y558X
W09–0048 1 Affy 5.0 2 1 Chr 1: 188.030.378–207.318.912 19.3 CRB1 c.3914C>T p.P1305L
      2 12 Chr 2:82.720.660–101.627.801 18.9      
W09–0049 2 Affy 5.0 5 1 Chr 9: 14.485.574–27.392.109 12.9      
        2 Chr 12: 95.081.092–104.387.559 9.3      
        3 Chr 2: 113.783.799–121.286.558 7.5      
        4 Chr 2: 60.823.051–64.299.067 3.5 FAM161A    
        5 Chr 1: 48.779.373–52.133.652 3.4      
W09–0050 2 Affy 5.0 21 1 Chr 1: 71.823.794–120.992.603 49.2 ABCA4, RPE65    
        2 Chr 1: 196.164.119–224.123.536 28 USH2A    
        3 Chr 5: 106.422.150–131.638.131 25.2      
        4 Chr 13: 30.509.319–52.819.567 22.3      
        5 Chr 4: 173.631.572–191.167.888 17.5      
        6 Chr 4: 121.482.239–136.825.720 15.3      
        7 Chr 1: 148.152.207–161.819.282 13.7      
        8 Chr 16: 55.072–12.523.392 12.5      
        9 Chr 17: 6.888–9.800.824 9.8 PRCD    
        10 Chr 12: 61.88–8.589.738 8.5