TABLE 2.
Pathogenic variants of the 117 patients from 112 EVA families
| GT no. | SLC26A4 genotype | No. of patientsa/b/c | GT no. | SLC26A4 genotype | No. of patientsa/b/c | ||
|---|---|---|---|---|---|---|---|
| Allele 1 | Allele 2 | Allele 1 | Allele 2 | ||||
| 1 | c.919‐2A>G | c.919‐2A>G | 19/2/2 | 32 | c.919‐2A>G | c.754T>C | 1/0/0 |
| 2 | c.919‐2A>G | c.2168A>G | 8/2/1 | 33 | c.919‐2A>G | c.916dup | 0/1/0 |
| 3 | c.919‐2A>G | c.1229C>T | 4/1/0 | 34 | c.919‐2A>G | c.946G>T | 1/0/0 |
| 4 | c.919‐2A>G | c.1226G>A | 3/1/0 | 35 | c.1174A>T | c.87G>C | 1/0/0 |
| 5 | c.919‐2A>G | c.1975G>C | 2/1/1 | 36 | c.1174A>T | c.2027T>A | 0/1/0 |
| 6 | c.919‐2A>G | c.2027T>A | 3/0/1 | 37 | c.1226G>A | c.1336C>T | 1/0/0 |
| 7 | c.919‐2A>G | c.1174A>T | 3/0/0 | 38 | c.1226G>A | wt | 1/0/0 |
| 8 | c.919‐2A>G | c.317C>A | 3/0/0 | 39 | c.1226G>A | c.946G>T | 1/0/0 |
| 9 | c.919‐2A>G | c.589G>A | 3/0/0 | 40 | c.1226G>A | c.2027T>A | 1/0/0 |
| 10 | c.919‐2A>G | c.1299dup | 2/0/0 | 41 | c.1229C>T | c.1707+5G>A | 1/0/0 |
| 11 | c.919‐2A>G | c.1318A>T | 2/0/0 | 42 | c.1229C>T | c.439A>G | 1/0/0 |
| 12 | c.919‐2A>G | c.439A>G | 2/0/0 | 43 | c.1229C>T | c.1975G>C | 1/0/0 |
| 13 | c.916dup | c.1656T>G | 2/0/0 | 44 | c.1264‐12T>A | c.1547dup | 1/0/0 |
| 14 | c.919‐2A>G | wt | 1/1/0 | 45 | c.1264‐6T>G | wt | 0/0/1 |
| 15 | c.2168A>G | c.2168A>G | 1/0/0 | 46 | c.1343C>T | c.1336C>T | 1/0/0 |
| 16 | c.1174A>T | c.1174A>T | 1/0/0 | 47 | c.1586T>G | c.1786C>T | 1/0/0 |
| 17 | c.279T>A | c.279T>A | 0/1/0 | 48 | c.1707+5G>A | c.1336C>T | 1/0/0 |
| 18 | c.919‐2A>G | c.109G>T | 1/0/0 | 49 | c.1975G>C | c.1746del | 1/0/0 |
| 19 | c.919‐2A>G | c.1343C>A | 0/0/1 | 50 | c.2168A>G | c.589G>A | 0/1/0 |
| 20 | c.919‐2A>G | c.1708G>A | 0/1/0 | 51 | c.2168A>G | c.349del | 1/0/0 |
| 21 | c.919‐2A>G | c.1803+1G>A | 0/1/0 | 52 | c.2168A>G | c.1318A>T | 0/1/0 |
| 22 | c.919‐2A>G | c.1985G>A | 0/1/0 | 53 | c.2168A>G | c.846T>A | 0/0/1 |
| 23 | c.919‐2A>G | c.1991C>T | 1/0/0 | 54 | c.2168A>G | c.1174A>T | 1/0/0 |
| 24 | c.919‐2A>G | c.2000T>C | 1/0/0 | 55 | c.2168A>G | c.387del | 1/0/0 |
| 25 | c.919‐2A>G | c.2014G>A | 0/1/0 | 56 | c.2168A>G | c.1975G>C | 1/0/0 |
| 26 | c.919‐2A>G | c.2162C>A | 1/0/0 | 57 | c.249G>A | c.1371C>A | 0/0/1 |
| 27 | c.919‐2A>G | c.2167C>G | 1/0/0 | 58 | c.281C>T | c.1173C>A | 1/0/0 |
| 28 | c.919‐2A>G | c.2174_2177dup | 1/0/0 | 59 | c.697G>C | c.1667A>G | 1/0/0 |
| 29 | c.919‐2A>G | c.227C>T | 0/0/1 | 60 | c.946G>T | c.1229C>T | 0/1/0 |
| 30 | c.919‐2A>G | c.281C>T | 1/0/0 | 61 | wt | wt | 0/1/0 |
| 31 | c.919‐2A>G | c.415+2T>C | 1/0/0 | ||||
Variants are based on SLC26A4 canonical transcript NM_000441.2.
Abbreviations: a,b,c, number of patients with mutations confirmed in both, one, or none of the parental samples; GT no., genotype number; No. of patients, Number of patients with this genotype; wt, wild‐type.