Table 3 Likely non‐pathogenic exonic variations identified in USH1 genes.
| Gene | Exon/intron | Nucleotide exchange | Translation effect | In silico study (SIFT) | No of alleles in patients | No of alleles in controls | Original reference |
|---|---|---|---|---|---|---|---|
| MYO7A | 6 | c.510G→A | p.Leu170Leu | 1 | 2/664 | This study | |
| 17 | c.2035G→A | p.Val679Ile | Tolerated (0.16) | 2 | This study | ||
| 35 | c.4697C→T | p.Thr1566Met | Affects protein function (0.03) | 1 | 2/982 | 16 | |
| 37 | c.5156A→G | p.Tyr1719Cys | Tolerated (0.08) | 1 | 8/1104 | 10 | |
| CDH23 | 13 | c.1307G→A | p.Ser436Asn | Tolerated (0.06) | 1 | 0/176 | This study |
| 26 | c.3178C→T | p.Arg1060Trp | Affects protein function (0.02) | 1 | 0/352 | 5 | |
| 41 | c.5418C→G | p.Asp1806Glu | Tolerated (0.56) | 1 | 3/348 | This study | |
| PCDH15 | 2 | c.55T→G | p.Ser19Ala | Tolerated (0.13) | 4 | 34/146 | This study |
| 15 | c.1910A→G | p.Asn637Ser | Tolerated (0.29) | 1 | 18/348 | This study | |
| 21 | c.2786G→A | p.Arg929Gln | Tolerated (0.60) | 2 | 3 | This study | |
| 23 | c.3018G→T | p.Val1006Val | 1 | 0/352 | This study |