| GENE | LOCUS or SYNDROME | AMINO ACID CHANGE | NUCLEOTIDE CHANGE | EXON | ETHNICITY (Number of families) | REFERENCES |
| DFNA5 | DFNA5 | 1,189 bp from exon 7 are deleted while 127 bp from exon 8 are inserted into exon 7 along with GCCCA stretch of unknown origin. | Dutch (1) | Van Laer 1998 |