Table 2.
Mutation Name | |
---|---|
Risk variant | E326K (53), E388K (1), T369M (28) |
Mild | N370S (33), R120W (3), L279P (1), S364N (1) |
Severe | L444P (5), RecNcil (3), IVS2+1 G>A (2), A456P (1), A456P, RecNcil (1), L444P/A456P (1), E326K/L444P (1), G115R/G193E (1), R463C/R463C (1), H255Q (1), L29AFs*18 (1), N370S/N370S (1), R131C (1) |