Table 3 of Siemiatkowska, Mol Vis 2012; 18:2411-2419.

Table 3. Overview of homozygous regions shared between the three affected individuals.

Chr Start position (hg 18) End position (hg 18) Flanking SNP 1 Flanking SNP 2 Size (Mb) Rank Known arRP gene in the region Mutation (DNA) Mutation (protein)
16 77.098.649 80.083.138 rs8056971 rs12445748 3 1


8 50.357.738 52.191.973 rs17664823 rs10090890 2 2


16 65.737.699 67.289.958 rs11643507 rs1886699 1.5 3


8 55.432.038 56.765.392 rs7827900 rs7011147 1.3 4 RP1 c.1012C>T p.R338*

Shown are all homozygous regions shared by three affected siblings and larger than 1 Mb. Flanking SNPs and their physical positions correspond to the hg18 NCBI genome assembly. The fourth largest homozygous region harbors RP1.

Siemiatkowska, Mol Vis 2012; 18:2411-2419. http://www.molvis.org/molvis/v18/a254

©2012 Molecular Vision http://www.molvis.org/molvis/

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