| Mutation type*1 | Mutation position | Length of affected nucleotides | Nucleotide sequence after mutation | Mutation name | Case # | Consequence | Disease | Symptom | Hereditary Pattern | Zygosity | Mutation Position | Onset | Progress | Ethnic Origin | Reference | Memo |
| M | 853 | 1 | A | G285S | 1 | GGC-AGC at ntd 853 -> Gly-Ser at codon 285 | DFNA2, Deafness, autosomal dominant 2 | more severe, high frequencies, (50-90dB) at 500Hz, (90-120dB) at 4kHz | AD*2 | heterozygous | exon 6. First glycine in the GYG sequence of K+ channel pores | early chldhood or around puberty | progressive | French | Kubisch, C. et al. Cell 96, 437 (1999) | strong dominant-negative effect |
| M | 853 | 1 | T | G285C | 1 | GGC-TGC at ntd 853 -> Gly-Cys at codon 285 | DFNA2, Deafness, autosomal dominant 2 | start with high frequencies. Average progression is ~1 dB/year but onset is earlier for high frequencies than low frequencies. | AD | heterozygous | exon6. Pore region | <10Y | progressive | American | Coucke, P. J. et al. Hum Mol Genet 8, 1321 (1999) | |
| FD | 211 | 13 | 211del13 | 1 | 13-bp del CAGCGCTCCTCGG at ntd 211 -> frameshift at codon 71, followed by a premature stop codon at amino acid position 134 | DFNA2, Deafness, autosomal dominant 2 | start with high frequencies. Average progression for high frequencies is about 5 times faster than low frequencies. | AD | heterozygous | exon 1. N-termonal cytoplasmatic | <10Y | progressive | Belgian | Coucke, P. J. et al. Hum Mol Genet 8, 1321 (1999) | ||
| M | 827 | 1 | C | W276S | 1 | GTG-GTC at ntd 827 -> Trp-Ser at codon 276 | DFNA2, Deafness, autosomal dominant 2 | start with high frequencies. Average progression is ~1 dB/year but onset is earlier for high frequencies than low frequencies. | AD | heterozygous | exon 5. Pore region | <10Y | progressive | Dutch | Coucke, P. J. et al. Hum Mol Genet 8, 1321 (1999) | |
| M | 961 | 1 | A | G321S | 1 | GGC-AGC at ntd 961 -> Gly-Ser at codon 321 | DFNA2, Deafness, autosomal dominant 2 | start with high frequencies. Average progression is ~1 dB/year but onset is earlier for high frequencies than low frequencies. | AD | heterozygous | exon 7. S6 transmembrane domain | <10Y | progressive | Dutch | Coucke, P. J. et al. Hum Mol Genet 8, 1321 (1999) |