Disease | Inheritance | Repeat unit | CG% | Locus found individual calling | STRling est. > pathogenic threshold | Significant outlier | N subjects |
---|---|---|---|---|---|---|---|
CANVAS | AR | AAGGG | 60 | 4 (80%) | 0 | 5 (100%) | 5 |
DBQD2 | AR | CCG | 100 | 1 (100%) | 1 (100%) | 1 (100%) | 1 |
DM1 | AD | CAG | 66.7 | 18 (100%) | 18 (100%) | 18 (100%) | 18 |
DM2 | AD | CCTG | 75 | 1 (100%) | 0 | 1 (100%) | 1 |
DRPLA | AD | CAG | 66.7 | 2 (100%) | 2 (100%) | 2 (100%) | 2 |
FRDA | AR | AAG | 33.3 | 26 (100%) | 26 (100%) | 26 (100%) | 26 |
FTDALS1 | AD | GGGGCC | 100 | 1 (100%) | 0 | 1 (100%) | 1 |
FXS | XD | CGG | 100 | 11 (68.8%) | 0 | 3 (18.8%) | 16 |
HD | AD | CAG | 66.7 | 11 (84.6%) | 13 (100%) | 13 (100%) | 13 |
SBMA | XR | CAG | 66.7 | 1 (33.3%) | 3 (100%) | 3 (100%) | 3 |
SCA1 | AD | CTG | 66.7 | 3 (75%) | 4 (100%) | 4 (100%) | 4 |
SCA3 | AD | CTG | 66.7 | 2 (100%) | 2 (100%) | 0 | 2 |
SCA6 | AD | CAG | 66.7 | 0 | 0 | 0 | 1 |
SCA8 | AD | CTG | 66.7 | 1 (100%) | 1 (100%) | 1 (100%) | 1 |
Total | 82 (87.2%) | 70 (74.5%) | 78 (83.0%) | 94 |