**Exon** | **Sequence involved** | **Defect** | **First author [ref.]** |

**1–13** | 195 kb deletion | Truncation without synthesis (deletion) | Stokman [15] |

**1** | c.-6773_-6588del | Truncation without synthesis (deletion) | Corut [9] |

**2–6** | 5.5 kb deletion | Truncation (deletion) | Ishihara [16] |

**2** | insT (not specified area) | Truncation (frameshift) | Dogan [17] |

**3** | c.114delA | Truncation (deletion) | Corut [9] |

**3** | c.212_224del | Truncation (deletion) | Vismara [18] |

**3** | c.226 C>T | Substitution | Corut [9] |

**4** | c.316 G>A | Substitution (missense) | Jonsson [19] |

**5** | c.IVS4+1452_IVS5+660del | Truncation (deletion) of entire exon 5 | Dandan [20] |

**6** | c.560 G>A | Substitution (missense) | Jonsson [19] |

**6** | c.575 C>A | Substitution | Ma [21] |

**7** | c.560 G>A | Substitution (nonsense) | Jonsson [19] |

**7** | insdel857-871 | Insertion/deletion with truncation | Huqun [8] |

**8** | IVS8+1 G>A | Truncation by splicing failure | Huqun [8] |

**8** | c.906 G>A | Substitution (nonsense) | Jonsson [19] |

**8** | c.910 A>T | Truncation | Zhong [22] |

**10** | c.1136 G>A | Substitution (missense) | Jonsson [19] |

**11** | c.1238 G>A | Substitution (nonsense) | Jonsson [19] |

**11** | c.1327delC | Truncation (deletion) | Jonsson [19] |

**11** | c.1328delT | Truncation (deletion) | Corut [9] |

**12** | c.1333+1 G>A | Substitution (nonsense, frameshift splicing) | Jonsson [19] |

**12** | c.1342delG | Truncation (deletion) | Corut [9] |

**12** | c.1363 T>C | Substitution | Wang [23] |

**12** | c.1390 G>C | Unclear result | Izumi [24] |

**12** | c.1393-1404delACC | Truncation, threonine deletion | Jonsson [25] |

**12** | c.1402-1404delACC | Truncation, threonine deletion | Jonsson [25] |

**12** | c.1456 C>T | Truncation | Proesmans [26] |