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