| Mutation type*1 | Mutation position | Length of affected nucleotides | Nucleotide sequence after mutation | Mutation name | Case # | Consequence | Symptom | Hereditary pattern*3 | Onset | Ethnic Origin | Reference |
| S | 79-2 | 1 | G | 79-2A->G | 1 | A-G at nucleotide 79-2 in intron 2 | 1*2 | XR | early | ND | Sauer, C. G. et al. Nature Genet 17, 164 (1997). |
| N | 120 | 1 | A | C40X | 1 | TGC -TGA at nucleotide 120 -> Cys-Stop at codon 40 | 1 | XR | early | ND | Sauer, C. G. et al. Nature Genet 17, 164 (1997). Nature Genet 17, 164 (1997). |
| M | 286 | 1 | C | W96R | 1 | TGG-CGG at nucleotide 286 -> Trp-Arg at codon 96 | 1 | XR | early | ND | Sauer, C. G. et al. Nature Genet 17, 164 (1997). |
| M | 304 | 1 | T | R102W | 1 | CGG-TGG at nucleotide 304 -> Arg-Trp at codon 102 | 1 | XR | early | ND | Sauer, C. G. et al. Nature Genet 17, 164 (1997). |
| FI | 316 | 0 | A | 316insA | 1 | 1-bp ins of A at nucleotide 316 -> frameshift at codon 107 | 1 | XR | early | ND | Sauer, C. G. et al. Nature Genet 17, 164 (1997). |
| M | 325 | 1 | C | G109R | 1 | GGG-CGG at nucleotide 325 -> Gly-Arg at codon 109 | 1 | XR | early | ND | Sauer, C. G. et al. Nature Genet 17, 164 (1997). |
| M | 574 | 1 | T | P192S | 1 | CCC-TCC at nucleotide 574 -> Pro-Ser at codon 192 | 1 | XR | early | ND | Sauer, C. G. et al. Nature Genet 17, 164 (1997). |
| M | 578 | 1 | T | P193L | 1 | CCC-CTC at nucleotide 578 -> Pro-Leu at codon 193 | 1 | XR | early | ND | Sauer, C. G. et al. Nature Genet 17, 164 (1997). |
| M | 626 | 1 | A | R209H | 1 | CGC-CAC at nucleotide 626 -> Arg-His at codon 209 | 1 | XR | early | ND | Sauer, C. G. et al. Nature Genet 17, 164 (1997). |
| M | 214 | 1 | A | E72K | 4 | GAG-AAG at nucleotide 214 -> Glu-Lys at codon 72 | 1 | XR | early | Japanese | Hotta, Y. et al. Nature Genet 17, 164 (1997). |
| M | 276 | 1 | C | W92C | 1 | TGG-TGC at nucleotide 276 -> Trp-Cys at codon 92 | 1 | XR | early | Japanese | Hotta, Y. et al. Nature Genet 17, 164 (1997). |
| M | 305 | 1 | A | R102Q | 1 | CGG-CAG at nucleotide 305 -> Arg-Gln at codon 102 | 1 | XR | early | Japanese | Hotta, Y. et al. Nature Genet 17, 164 (1997). |
| M | 438 | 1 | C | E146D | 1 | GAG-GAC at nucleotide 438 -> Glu-Asp at codon 146 | 1 | XR | early | Japanese | Hotta, Y. et al. Nature Genet 17, 164 (1997). |
| N | 460 | 1 | T | Q154X | 1 | CAG-TAG at nucleotide 460 -> Gln-Stop at codon 154 | 1 | XR | early | Japanese | Hotta, Y. et al. Nature Genet 17, 164 (1997). |
| M | 578 | 1 | T | P193L | 2 | CCC-CTC at nucleotide 578 -> Pro-Leu at codon 193 | 1 | XR | early | Japanese | Hotta, Y. et al. Nature Genet 17, 164 (1997). |
| M | 638 | 1 | A | R213Q | 1 | CGG-CAG at nucleotide 638 -> Arg-Gln at codon 213 | 1 | XR | early | Japanese | Hotta, Y. et al. Nature Genet 17, 164 (1997). |