Sample | Genotype^{2} | Exon |
---|---|---|

A | No mutation found | |

B | R2030Q (6089G>A)^{3} | 44 |

C | G1050D (3149G>A) | 21 |

6817–1G>A^{3} | 50 | |

D | G978D (2933G>A) | 20 |

T1526M (4577C>T) | 31 | |

E | T1526M (4577C>T) | 31 |

A1598D (4793C>A) | 34 | |

F | G1961E (5882G>A) | 42 |

G | P1512R (4535C>G) | 30b |

H | W821R (2461T>A) | 16 |

V767D (2300T>A)^{3} | 15 | |

I | W821R (2461T>A) | 16 |

J1^{d} | Y1652X (4956T>G) | 35 |

J2^{d} | R2149T (6446G>T) | 47 |

K1^{d} | 1358-8delTT | 11 |

K2^{d} | G1961E (5882G>A) | 42 |

L | 250_251insCAAA | 3 |

D108V (323A>T)^{3} | 4 | |

M | No mutation found | |

N | Y954D (2860T>G) | 19 |

G1050D (3149G>A) | 21 | |

O | R212H (635G>A) | 6 |

T230S (688T>A) | 6 | |

E1022K (3064G>A) | 21 | |

P | 5018 + 2T>C | 35 |

Q | Y954D (2860T>G) | 19 |

R | N96K (288C>A) | 3 |

A1598D (4793C>A) | 34 | |

S | No mutation found | |

T | T2253A (6757A>C) | 49 |

6730-10del9 | 49 | |

U | Q876X (2626C>T) | 17 |

V | No mutation found | |

Z | 5714 + 5G>A | 40 |

R1108C (3322C>T) | 22 |