Click on mutation below to see location within SLC26A4
| base pair change | aa change | # families | Exon | TM domain | Phenotype | Reference |
| 3'-2A>G | SS | 3 |
intron 1 |
Prasad et al 2004, Pryor et al 2005 | ||
| 2T>C | M1T | 2 | 2 | NH2 | Prasad S et al, 2003, Conlon et al 2004 | |
| 28C>A | P10T | 1 | 2 | NH2 | Prasad S, personal communication | |
| S23X | 1 | Blons et al 2004 | ||||
| 70C>G | R24G | 1 | 2 | NH2 | Prasad et al, 2004 | |
| 84C>A | S28R | 3 | 2 | NH2 | Bilat severe SNHL, subclinical hypothyroidism, language disturbance | Fugazzola et al, 2002, Park et al 2003, Park et al 2004 |
| 85G>C | E29Q | 4 | 2 | NH2 | Campbell et al, 2001, Prasad et al 2003, Blons et al 2004, Conlon et al 2004 | |
| 127C>A | R43S | 1 | 2 | NH2 | Prasad S, personal communication | |
| 129insC | 1 | 2 | NH2 | Blons et al 2004 | ||
| 149T>G | L50R | 1 | 2 | NH2 | Prasad S, personal communication | |
| 165-1G>A (IVS2-1G>A) | SS | 3 |
intron 2 |
Gonzalez et al, 2001, Trevino et al, 2001, Prasad S personal communication | ||
| IVS2_IVS3 del 4kB | 1 | Park et al 2003 | ||||
| 170C>A | S57X | 1 | 3 | NH2 | Park et al 2003 | |
| 203T>C | L68P | 1 | 3 | NH2 | MORL personal communication | |
| 230A>T | K77I | 3 | NH2 | Wu et al 2005 | ||
| 233A>G | Y78C | 3 | 3 | NH2 | Prasad et al, 2004, Blons et al 2004 | |
| 235C>T | R79X | MORL personal communication | ||||
| S90L | 5 | 3 | Park et al 2003 | |||
| 281C>T | T94I | 1 | 3 | MORL personal communication | ||
| 279delT | X96 | 1 | 3 | 1 | Kopp P et al, 1999 | |
| 311C>T | A104V | 1 | 4 | 1 | Prasad, 2004 | |
| 314A>G | Y105C | 1 | 4 | 1 | Campbell et al, 2001 | |
| 317C>A | A106D | 1 | 4 | 1 | Campbell et al, 2001 | |
| 322delC | 1 | Tsukamoto et al 2003, Iwasaki et al 2006 | ||||
| 338delT | 2 | 4 | MORL personal communication | |||
| 347G>T | G116V | 1 | 4 | MORL personal communication | ||
| 349 C>T | L117F | 1 | 4 | 2 | Reardon et al, 2000 | |
| 365insT | X131 | 3 | 4 | Park et al 2004, MORL personal communication | ||
| P123S | 1 | 4 | Tsukamoto et al, 2003 | |||
| 395C>T | T132I | 1 | 4 | IC LOOP1 | Lopez-Bigas et al, 2002 | |
| 398T>A | S133T | 2 | 4 | IC LOOP 1 | Bilat severe SNHL, subclinical hypothyroidism, language disturbance | Fugazzola et al, 2002, Borck et al 2003 |
| S133X | 1 | 4 | IC LOOP 1 | Blons et al 2004 | ||
| 401G>T | R134I | 1 | MORL personal communication | |||
| 406delTCTCA | FS135 (X178) | 1 | EC LOOP 2 | Lopez-Bigas et al, 2002 | ||
| S137P | 1 | Blons et al 2004 | ||||
| 412G>T | V138F | 12 | 4 | 3 | Van Hauwe et al, 1998, Coyle et al 1998, Gonzalez et al, 2001, Campbell et al 2001, Trevino et al, 2001Borck 2003, Blons et al 2004, Pryor et al, 2005 | |
| V138X | 1 | 4 | 3 | Trevino et al 2001 | ||
| 25bp del + 5 bp ins | V138X | 1 | 4 |
