Sample | Exon | Mutation | Predicted consequence | Reference | |
---|---|---|---|---|---|
*S, sporadic; F, familial. | |||||
†Mutation was not detected in the present study. | |||||
1 | F* | 4 | c.364C>T | R122C | 33 |
2 | F | 6 | c.649T>G | W217G | 34 |
3 | S | 11 | c.1468G>T | 48 bp deletion | 35 |
4 | F | 21 | c.2668T>C | C890R | 36 |
5 | F | 24 | c.2980G>T | E994X | 37 |
6 | S | 25 | c.3143C>T | I1048T | 38 |
7 | S | 26 | c.3220T>C | E1074R | 5 |
8 | S | 27 | IVS27+1G>A | Exon skipping | 37 |
9 | F | 29 | c.3599A>G | E1200G | 23 |
10 | S | 29 | c.3603–3662del60-bp | Del 1202–1221 | 38 |
11 | S | 30 | c.3725G>A | C1242Y | 5 |
12 | F | 52 | c.6381T>A | D2127E | 5 |
13 | F | 52 | c.6453C>G | D2151W | 5 |
14 | F | 59 | c.7339G>A | E2447K | 32 |
15 | F | 60–62 | Del exon 60–62 | Del 2486–2851† | 22 |
16 | S | 60 | c.7531T>C | C2511R | 5 |
17 | F | 63 | c.7879G>A | G2627R | 34 |