Exon | Mutation | Effect | No of subjects | Reference |
---|---|---|---|---|
AA del, amino acid deletion. | ||||
11 | 1824 C>T | G608G | 20 | 5, 6, 7 |
Cryptic splice site (50-AA del) | ||||
11 | 1822 G>A | G608S | 1 | 5, 7 |
Cryptic splice site (50-AA del) | ||||
11 | 1868 C>G | T623S | 1 | This study |
Cryptic splice site (35-AA del) | ||||
8, 9 | 1623 C>T, 1791 C>T | R471C, R527C | 1 (compound heterozygote) | 7 |
2 | 433 G>A | E145K | 1 | 5 |