Region | Nucleotide changes | Amino acid changes | Types of variation | Status | Subjects |
---|---|---|---|---|---|
Exon 5 | c. 684 C > G | No change | Silent mutation |  | All members |
Exon 8 | c. 997 G > A | V333I | Missense mutation | polymorphism | All members |
Exon 8 | c. 1185 C > T | No change | Silent mutation |  | All members |
Exon 8 | c. 1500 C > T | No change | Silent mutation |  | All members |
Exon 8 | c. 1832 G > A | R611H | Missense mutation | polymorphism | All members |
Exon 8 | c. 2067_2076 del 10 | W690fsX706 | Frameshift mutation | Heterozygous (novel) | I-2(mother), II-2 (patient) |
Exon 8 | c. 2433 G > A | No change | Silent mutation |  | All members |
Exon 8 | c. 2565 A > G | No change | Silent mutation |  | All members |