Proband | Exon | Mutation | Nucleotide change | Amino acid change | References |
---|---|---|---|---|---|
1 | 7 | G111R | 331G→A | 111Gly→Arg | |
2 | 7 | g4715insT | Insertion of T after g4715 | 114C→LQAGKPSX | This report |
3 | 8 | R116W | 346C→T | 116Arg→Trp | |
4 | 9 | R149X | 445C→T | 149Arg→Term | |
5 | 10 | R167W | 499C→T | 167Arg→Trp | |
6 | 10 | R173W | 517C→T | 173Arg→Trp | |
7 | 10 | R173W | 517C→T | 173Arg→Trp | |
8 | 11 | M212V | 634A→G | 212Met→Val | This report |
9 | 14 | g7902ACT→G | a | a | This report |