| 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 |
| S | 3589+1 | 1 | T | 3589+1G->T | 1 | ntd 3589+1G-T -> splice doner site change after codon 1196. 4bp insertion in mRNA and frameshift, encoding 21 aberrant amino acid | DFNA1, deafness, autosomal dominant 1 | low frequency deafness, bilateral deafness involved all frewuencies, sensorial cochleosaccular dysplasia | AD*2 | hetelozygous | intron 17, splice doner site | about 10y | progressive (by age 30 to profound) | Costa Rica | Lynch, E. D. et al. SCIENCE 278, 1315 (1997) |