Table 5.
Novel intronic variants
| Nucleotide change | Intron | Predicted pathology | No. of alleles |
|---|---|---|---|
| c.1328 + 52T > C | IVS7 | - | 3 |
| c.1841-61G > A | IVS10 | - | 11 |
| c.4627 + 32G > T | IVS21 | UV2 | 1 |
| c.6485 + 18C > T | IVS33 | UV2 | 1 |
| c.6486-54T > C | IVS33 | UV2 | 2 |
| c.6486-43T > A | IVS33 | UV2 | 1 |
| c.6657 + 29C > A | IVS34 | UV2 | 1 |
| c.8681 + 18A > G | IVS43 | UV2 | 1 |
| c.8681 + 53T > G | IVS43 | UV2 | 1 |
| c.8681 + 118A > G | IVS43 | UV2 | 1 |
| c.9056-52G > T | IVS45 | UV | 1 |
| c.9372-50A > G | IVS47 | UV2 | 1 |
| c.9740-59G > A | IVS49 | UV2 | 1 |
| c.9958 + 128A > G | IVS50 | - | 4 |
| c.10388-123T > C | IVS52 | UV2 | 1 |
| c.13812-78A > G | IVS63 | UV2 | 1 |
| c.14134-53T > C | IVS64 | UV2 | 1 |
| c.14343 + 36G > C | IVS65 | UV2 | 1 |
| c.15298-35T > A | IVS70 | UV2 | 1 |
| c.15298-1153G > A(g.798209G > A) d | IVS71 | UV2 | 1 |
UV2: probably non- pathogenic mutations; - : neutral variants.
No. of alleles: Number of alleles identified in patients.
dThe intronic variant g.798209G > A affects the last nucleotide of the cochlea specific exon 71. g.DNA numbering starts at nucleotide position 1 in Human Refseq: NG_009497.1 GI:222352133, which represents the minus (-) strand of USH2A.