| Mutation type*1 | Mutation position | Length of affected nucleotides | Nucleotide sequence after mutation | Mutation name | Case # | Consequence | Disease | Symptom | Hereditary pattern | Zygosity | Position | Onset | Progress | Ethnic origin | Reference |
| N | 2190 | 1 | A | Y730X | 8 | TAT-TAA at ntd 2190 -> Tyr-Term at codon 730 | DFNB9, Deafness, non-syndromic, autosomal recessive | severe-to-profound hearing loss | AR*2 | homozygous | exon 18, C2B domain | prelingual | ND | Lebanese | Yasunaga, S. et al. Nat. Genet. 21, 363 (1999) |