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.