| Mutation type*1 | Mutation position | Length of affected nucleotides | Nucleotide sequence after mutation | Mutation name | Case # | Consequence | Disease | Mutation position | Clinical feature | Audiogram | Onset | Hereditary pattern | Ethnic origin | Zygosity | Reference |
| M | 35 | 1 | A | G12D | 1 | GGT-GAT at ntd 35 -> Gly-Asp at codon 12 | Erythrokeratodermia variabilis | Cytoplasmic amino terminal (NT) | transient figurate red patches and localozed or generalized hyperkeratosis | Normal | At birth or early childhood | AD*2 | Caucasian | heterozygous | Richard, G. et al. Nat. Genet. 20, 366 (1998) |
| M | 34 | 1 | C | G12R | 1 | GGT-CGT at ntd 34 -> Gly-Arg at codon 12 | Erythrokeratodermia variabilis | Cytoplasmic amino terminal (NT) | transient figurate red patches and localozed or generalized hyperkeratosis | Normal | At birth or early childhood | AD | Caucasian (Swiss) | heterozygous | Richard, G. et al. Nat. Genet. 20, 366 (1998) |
| M | 256 | 1 | A | C86S | 1 | TGC-AGC at ntd 256 -> Cys-Ser at codon 86 | Erythrokeratodermia variabilis | 2nd TM domain (M2) | transient figurate red patches and localozed or generalized hyperkeratosis | Normal | At birth or early childhood | AD | Caucasian (USA/origin: Dutch) | heterozygous | Richard, G. et al. Nat. Genet. 20, 366 (1998) |
| M | 256 | 1 | A | C86S | 1 | TGC-AGC at ntd 256 -> Cys-Ser at codon 86 | Erythrokeratodermia variabilis | 2nd TM domain (M2) | transient figurate red patches and localozed or generalized hyperkeratosis, sporadic | Normal | At birth or early childhood | AD | Caucasian | heterozygous | Richard, G. et al. Nat. Genet. 20, 366 (1998) |
| N | 538 | 1 | T | R180X | 1 | CGA-TGA at ntd 538 -> Arg-Ter at codon 180 | Deafness, non-syndromic, autosomal dominant (DFNA2) | lacking the 4th TM domain(M4) and the 3rd intracellular domain(CT) at the carboxy terminus | progressive, bilateral hearing impairment | Mild-moderate, 20-55 dBHL, middle-high frequencies, gently sloping shape | 20-40 Years | AD | Chinese (province of China) | heterozygous | Xia, J. H. et al. Nat. Genet. 20, 370 (1998) |
| M | 547 | 1 | A | E183K | 1 | GAG-AAG at ntd 547 -> Glu-Lys at codon 183 | Deafness, non-syndromic, autosomal dominant (DFNA2) | 2nd extracellular domain (E2) | bilateral hearing impairment | Mild-moderate, 20-55 dBHL, middle-high frequencies, gently sloping shape | 20-40 Years | AD | Chinese (Zhejiang province) | heterozygous | Xia, J. H. et al. Nat. Genet. 20, 370 (1998) |
| D | 421 | 3 | 421delATT | 2 | in-flame 3 bp del (421-423delATT) in one allele -> loss of as isoleucine residue at codon 141. | Deafness, non-syndromic, autosomal (recessive/dominant ?) | 3rd conserved alpha-helical TM domain (M3) | bilateral sensprineural hearing loss | Moderate-profound, 45-85 dBHL, all frequencies, flat shape | Pre-lingual or early childhood | recessive(?) | Chinese | compound heterozugous | Liu, XZ. et al. Hum. Mol. Genet. 9, 63 (2000) | |
| M | 421 | 1 | G | I114V | 2 | ATT-GTT at ntd 421 in the other allele -> Ile->Val at codon 141 | Deafness, non-syndromic, autosomal (recessive/dominant ?) | 3rd conserved alpha-helical TM domain (M3) | bilateral sensprineural hearing loss | Moderate-profound, 45-85 dBHL, all frequencies, flat shape | Pre-lingual or early childhood | recessive(?) | Chinese | compound heterozugous | Liu, XZ. et al. Hum. Mol. Genet. 9, 63 (2000) |