Homozygote | Compound heterozygotes | Heterozygote | |||
---|---|---|---|---|---|
Mutation | Number | Mutation | Number | Mutation | Number |
M694I/M694I | 2 | E148Q/M694I | 15 | E148Q/wild-type | 21 |
L110P/E148Q/M694I | 14 | M694I/wild-type | 13 | ||
L110P/E148Q | 13 | R202Q/wild-type | 8 | ||
L110P-E148Q/E148Q | 6 | E84K/wild-type | 3 | ||
P369S/R408Q | 4 | S503C/wild-type | 2 | ||
L110P/E148Q/P369S/R408Q | 4 | ||||
E84K/L110P/E148Q | 2 | ||||
M694I/S503C | 1 | ||||
E148Q/S503C | 1 | ||||
L110P-E148Q/L110P-E148Q | 1 | ||||
L110P/E148Q/G304R | 1 | ||||
E148Q/P369S/R408Q | 1 | ||||
E148Q/E148Q-P369S-R408Q | 1 | ||||
E148Q/R202Q/P369S/R408Q | 1 | ||||
G304R/P369S/R408Q | 1 | ||||
E148Q/R202Q | 1 | ||||
Total | 2 | 67 | 47 |