Family | Mutation | ||
---|---|---|---|
Type | Nucleic acid change | Amino acid substitution | |
Ht, heterozygous; Hm, homozygous. | |||
Mutations in bold represent novel changes. | |||
7 | Hm | 67C→T | Arg23Stop |
8 | Hm | 586C→T | Gln196Stop |
10 | Hm | 661C→T | Arg221Stop |
3 | Ht | 667C→T | Arg223Trp |
12 | Ht | 1306C→T | Arg436Trp |
9 | Ht | 1443insC, 1706G→A | Ile482fs, Arg569His |
15 | Hm | 1641C→A | Phe547Leu |
18 | Hm | 1641C→A | Phe547Leu |
6 | Hm | 1642G→A | Gly548Arg |