| Mutation type*1 | Mutation position | Length of affected nucleotides | Nucleotide sequence after mutation | Mutation name | Case # | Consequence | Symptom | Hereditary pattern*3 | Onset | Reference |
| M | 2453 | 1 | A | G818E | 1 | GGG-GAG --> Gly-Glu at codon 818 | 1*2 | AR | early | Allikmets,R.et al. Nature Genet 15, 2 (1997). |
| P | 2536 | 1 | C | 2536G/C | 1 | GAT-CAT --> Asp-His at codon 846 | - | - | - | Allikmets,R.et al. Nature Genet 15, 2 (1997). |
| M | 2588 | 1 | C | G863A | 3 | GGA-GCA --> Gly-Ala at codon 863 | 1 | AR | early | Allikmets,R.et al. Nature Genet 15, 2 (1997). |
| M | 2791 | 1 | A | V931M | 1 | GTG-ATG --> Val-Met at codon 931 | 1 | AR | early | Allikmets,R.et al. Nature Genet 15, 2 (1997). |
| P | 2828 | 1 | A | 2828G/A | 4 | CGG-CAG --> Arg-Gln at codon 943 | - | - | - | Allikmets,R.et al. Nature Genet 15, 2 (1997). |
| FD | 2884 | 1 | 2884delC | 1 | 1-bp del C at nucleotide 2884 --> frameshift at codon 962 | 1 | AR | early | Allikmets,R.et al. Nature Genet 15, 2 (1997). | |
| M | 2893 | 1 | G | N965D | 1 | AAT-GAT --> Asn-Asp at codon 965 | 1 | AR | early | Allikmets,R.et al. Nature Genet 15, 2 (1997). |
| M | 3083 | 1 | T | A1028V | 5 | GCC-GTC --> Ala-Val at codon 1028 | 1 | AR | early | Allikmets,R.et al. Nature Genet 15, 2 (1997). |
| FI | 3211 | 0 | GT | 3211insGT | 1 | 2-bp ins GT at nucleotide 3211 --> frameshift at codon 1070 | 1 | AR | early | Allikmets,R.et al. Nature Genet 15, 2 (1997). |
| M | 3215 | 1 | C | V1072A | 1 | GTT-GCT --> Val-Ala at codon 1072 | 1 | AR | early | Allikmets,R.et al. Nature Genet 15, 2 (1997). |
| M | 3259 | 1 | A | E1087K | 1 | GAA-AAA --> Glu-Lys at codon 1087 | 1 | AR | early | Allikmets,R.et al. Nature Genet 15, 2 (1997). |
| FD | 4726 | 1 | 4728delC | 1 | 1-bp del C at nucleotide 4726 --> frameshift at codon 1576 | 1 | AR | early | Allikmets,R.et al. Nature Genet 15, 2 (1997). | |
| D | 5041 | 15 | 5041del15 | 1 | 15-bp del at nucl. 5041-5055 --> del VVAIC at codon1681-1685 | 1 | AR | early | Allikmets,R.et al. Nature Genet 15, 2 (1997). | |
| S | 5196+2 | 1 | C | 5196+2T->C | 1 | nucleotide 5196+2T-C --> splice donor site change after codon 1694 | 1 | AR | early | Allikmets,R.et al. Nature Genet 15, 2 (1997). |
| S | 6005+1 | 1 | T | 6005+1G->T | 1 | nucleotide 6005+1G-T --> splice donor site changeafter codon 1965 | 1 | AR | early | Allikmets,R.et al. Nature Genet 15, 2 (1997). |
| P | 6069 | 1 | T | 6069C/T | 5 | ATC-ATT --> Ile-Ile at codon 2023 | - | - | - | Allikmets,R.et al. Nature Genet 15, 2 (1997). |
| M | 6079 | 1 | T | L2027F | 3 | CTC-TTC --> Leu-Phe at codon 2027 | 1 | AR | early | Allikmets,R.et al. Nature Genet 15, 2 (1997). |
| M | 6112 | 1 | T | R2038W | 1 | CGG-TGG --> Arg-Trp at codon 2038 | 1 | AR | early | Allikmets,R.et al. Nature Genet 15, 2 (1997). |
| M | 6148 | 1 | C | V2050L | 2 | GTT-CTT --> Val-Leu at codon 2050 | 1 | AR | early | Allikmets,R.et al. Nature Genet 15, 2 (1997). |
| M | 6229 | 1 | T | R2077W | 1 | CGG-TGG --> Arg-Trp at codon 2077 | 1 | AR | early | Allikmets,R.et al. Nature Genet 15, 2 (1997). |
| P | 6249 | 1 | T | 6249C/T | 6 | ATC-ATT --> Ile-Ile at codon 2083 | - | - | - | Allikmets,R.et al. Nature Genet 15, 2 (1997). |
| M | 6316 | 1 | T | R2106C | 1 | CGC-TGC --> Arg-Cys at codon 2106 | 1 | AR | early | Allikmets,R.et al. Nature Genet 15, 2 (1997). |
| P | 6342 | 1 | A | 6342G/A | 1 | GTG-GTA --> Val-Val at codon 2114 | - | - | - | Allikmets,R.et al. Nature Genet 15, 2 (1997). |
| FI | 6709 | 0 | G | 6709insG | 1 | 1-bp ins G at nucleotide 6709 --> frameshift at codon 2237 | 1 | AR | early | Allikmets,R.et al. Nature Genet 15, 2 (1997). |