Table 1.
Mutation | N | Age range (years) | Severity score |
---|---|---|---|
P101S | 1 | 3.1 | 4 |
R106Q | 1 | 8.4 | 8 |
R106W | 1 | 3.2 | 5 |
R133C | 1 | 4.3 | 5 |
P152R | 1 | 5.1 | 6 |
T158M | 9 | 2.5 – 13.1 | 4 – 12 |
R168X | 5 | 1.1 – 8.5 | 5 – 13 |
R255X | 4 | 1.1 – 7.7 | 3 – 7 |
R270X | 3 | 6.6 – 14.1 | 6 – 15 |
R294X | 5 | 4.3 – 10.4 | 4 – 12 |
R305R | 1 | 6.6 | 6 |
R306C | 1 | 5.0 | 8 |
R306H | 1 | 9.3 | 8 |
P322L | 1 | 5.7 | 9 |
C-terminal deletions | 5 | 2.9 – 7.5 | 3 – 7 |