Table 3 of Dai, Mol Vis 2008; 14:2067-2075.

Table 3. Presumed nonpathogenic variants found in USH2A.

Exon Nucleotide
change		 Codon
change		 Family
number		 Allele
frequency		 Source
6 c.879T>G p.L293L F5 N/A This study
11 c.1935A>T p.T645T F5 N/A This study
18 IVS17–8T>G
F5 N/A [11]
21 c.4457A>G p.K1486R F5 76/180 [11]
34 c.6506T>C p.I2169T F3,F4,F5 27/100 [16]
47 c.9340C>T p.P3114S F5 2/200 This study
52 c.10232A>C p.E3411A F3,F4,F5 23/64* [17]
53 IVS52–27T>C
F3,F4,F5 N/A This study
60 c.11602A>G p.M3868V F5 8/64* [17]
63 c.12612A>G p.T4204T F3,F4,F5 N/A [17]

c.12666A>G p.T4222T F5 14/64* [17]

c.13191G>A p.E4397E F3,F4,F5 7/64* [17]

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

Dai, Mol Vis 2008; 14:2067-2075. http://www.molvis.org/molvis/v14/a243

©2008 Molecular Vision http://www.molvis.org/molvis/

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