| Mutation type*1 | Mutation position | Length of affected nucleotides | Nucleotide sequence after mutation | Mutation name | Case # | Consequence | Disease | Symptom | Hereditary Pattern | Zygousity | Position | Onset | Progress | Ethnic Origin | Reference |
| M | 2884 | 1 | T | N962Y | 2 | AAC-TAC at ntd 2884 -> Asn-Tyr at codon 962 | DFNB3, Deafness, non-syndromic, autosomal recessive | severe-to-profound sensory hearing impairment | AR*2 | homozygous | exon 28. MyTH4 domain | ND | ND | consanguineous Indian | Wang, A. et al. Science 280, 1447 (1998) |
| M | 2890 | 1 | T | I964F | 2 | ATC-TTC at ntd 2890 -> Ile-Phe at codon 964 | DFNB3, Deafness, non-syndromic, autosomal recessive | bilateral, sensoeineual, congenical hearing impairment. 25dB deficit. | AR | homozygous | exon 28. MyTH4 domain | <childhood | progressive | Bengkala | Wang, A. et al. Science 280, 1447 (1998) |
| N | 4306 | 1 | T | K1436X | 2 | AAA-TAA at ntd 4306 -> Lys-Ter at codon 1436. Result in either a truncated protein or no protein at all | DFNB3, Deafness, non-syndromic, autosomal recessive | severe-to-profound sensory hearing impairment | AR | homozygous | exon 39. | <childhood | ND | consanguineous Indian | Wang, A. et al. Science 280, 1447 (1998) |