Table 2.
HEM (n = 47) | SSD (n = 25) | DH (n = 22) | |
---|---|---|---|
All Mutations | 897 | 1,003 | 776 |
Homozygous mutations | 696 (81%) | 676 (70%) | 720 (94%) |
Homozygous mutations that change protein sequences | 195 | 193 | 199 |
Homozygous non synonymous coding mutations | 179 | 177 | 182 |
Homozygous mutations that may affect protein function∗ | 14 | 15 | 14 |
∗This category includes premature stops, splice site changes, and frameshifts.