Table 6. Recessive Pathogenic Variants in SLC26A4 in Patients with NSHL.
| Base pair change | Effect or Amino acid change | TM* domain | Number of subjects | Number of mutant alleles |
|---|---|---|---|---|
| c.147C>G | Ser49Arg | NH2 | 2 | 2 |
| c.227C>T | Pro76Leu | NH2 | 1 | 1 |
| c.235C>T | Arg79Ter | NH2 | 1 | 1 |
| c.249G>A | Trp83 Ter | NH2 | 1 | 1 |
| c.269C>T | Ser90Leu | Exon 1 | 1 | 1 |
| c.279T>A | Ser93Arg | Exon 1 | 2 | 2 |
| c.281C>T | Thr94Ile | Exon 1 | 3 | 3 |
| c.414delT | Frame-shift | Exon 3 | 3 | 5 |
| c.439A>G | Met147Val | Exon 3 | 1 | 1 |
| c.563T>C | Ile188Thr | Exon 4 | 2 | 2 |
| c.589G>A | Gly197Arg | Exon 4 | 1 | 1 |
| c.754T>C | Ser252Pro | EC LOOP3 | 3 | 3 |
| c.916_917insG | Frame-shift | Exon 7 | 3 | 3 |
| c.919-2A>G | Splice site | None | 119 | 169 |
| c.946G>T | Gly316 Ter | Exon 7 | 1 | 1 |
| c.1079C>T | Ala360Val | Exon 8 | 1 | 1 |
| c.1173C>A | Cys391 Ter | Exon 9 | 2 | 2 |
| c.1174A>T | Asn392Thr | Exon 9 | 9 | 9 |
| c.1225C>T | Arg409Cys | EC LOOP5 | 3 | 3 |
| c.1226G>A | Arg409His | EC LOOP5 | 5 | 5 |
| c.1229C>T | Thr410Met | EC LOOP5 | 5 | 5 |
| c.1327G>C | Glu443Gln | IC LOOP5 | 1 | 1 |
| c.1334T>G | Leu445Trp | IC LOOP5 | 1 | 1 |
| c.1336C>T | Gln446 Ter | IC LOOP5 | 1 | 1 |
| c.1340delA | Frame-shift | IC LOOP5 | 2 | 2 |
| c.1343C>A | Ser448 Ter | IC LOOP5 | 1 | 1 |
| c.1343C>T | Ser448Leu | IC LOOP5 | 3 | 3 |
| c.1371C>A | Asn457Lys | Exon 11 | 1 | 1 |
| c.1489G>A | Gly497Ser | Exon12 | 1 | 1 |
| c.1547_1548InsC | Frame-shift | COOH | 2 | 2 |
| c.1586T>G | Ser529Ala | COOH | 1 | 1 |
| c.1594A>C | Ser532Arg | COOH | 2 | 2 |
| c.1673A>T | Asn558Ile | COOH | 1 | 1 |
| c.1686_1687insA | Frame-shift | COOH | 2 | 2 |
| c.1707+5G>A | Splice site | COOH | 6 | 7 |
| c.1927G>T | Glu643 Ter | COOH | 2 | 2 |
| c.1975G>C | Val659Leu | COOH | 14 | 14 |
| c.1991C>T | Ala664Val | COOH | 1 | 1 |
| c.2027T>A | Leu676Gln | COOH | 5 | 5 |
| c.2167C>G | His723Asp | COOH | 1 | 1 |
| c.2168A>G | His723Arg | COOH | 34 | 35 |
| Total | 164 | 304 |
*TM: Transmembrane domains