Table 5 of Xu, Mol Vis 2011; 17:1537-1552.

Table 5. Presumed nonpathogenic variants of the Usher syndrome type IIA (USH2A) gene found in this study.

Exon Nucleotide change Codon rs number Family number Allele frequency Source
2 c.373A>G p.A125T rs10779261 F6 N/A [14]
3 c.504A>G p.T168T rs4253963 F7 267/720 [20]
21 c.4457A>G p.K1486R rs1805049 F7 76/180 [24]]
28 IVS27–34delC
rs71556647 FR1 N/A [c]
32 c.6317T>C p.I2106T rs6657250 FR1,F6,F7,F8 N/A [29]
34 c.6506T>C p.I2169T rs10864219 FR1,F8 27/100 [15]
48 IVS48+78C>T     FR1 N/A This study
52 c.10232A>C p.E3411A rs10864198 FR1 23/64* [27]
63 c.12612G>A p.T4204T rs2797235 FR1,F8 N/A [27]

Abbreviations: N/A represents data not available; the asterisk indicates that the allele frequency referred to patients.

Xu, Mol Vis 2011; 17:1537-1552. http://www.molvis.org/molvis/v17/a172

©2011 Molecular Vision http://www.molvis.org/molvis/

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