Table 1 General characteristics of GAA expansions of all samples with biallelic GAA expansions in the UK Biobank
ID | EHv4: genotype | EHv4: genotype CI | Diagnosed with hereditary ataxia | Manual review: genotype quality | Manual review: summary of interruptions | Manual review: observed interruptions |
---|---|---|---|---|---|---|
1 | 135/135 | 68–149/90–189 |  | Low | Pure | GAAA |
2 | 129/129 | 58–152/85–206 | Yes | Low | Pure | GAAA |
3 | 127/127 | 73–149/95–184 |  | Low | Pure |  |
4 | 125/125 | 73–158/97–197 |  | Medium | Interrupted | GAG |
5 | 114/114 | 68–138/88–171 | Yes | Medium | Pure | GAAA |
6 | 112/112 | 64–139/87–176 |  | High | Interrupted | GAG |
7 | 109/109 | 53–143/81–197 | Yes | Medium | Pure |  |
8 | 109/109 | 62–135/85–172 |  | High | Interrupted | GAG, GAAA |
9 | 105/105 | 50–134/71–201 |  | Medium | Interrupted | GAG |
10 | 103/103 | 29–145/74–208 |  | Medium | Interrupted | GAG |
11 | 102/102 | 53–118/76–161 |  | Low | Interrupted | GAG, GAAA |
12 | 100/100 | 53–138/78–193 |  | Low | Interrupted | GAG |
13 | 100/100 | 49–146/78–207 |  | Medium | Interrupted | GAG, GAAA |
14 | 98/98 | 43–142/69–203 |  | Medium | Pure |  |
15 | 98/98 | 48–120/73–173 |  | High | Interrupted | GAG, GAAA |
16 | 96/96 | 51–121/75–165 |  | High | Interrupted | GAG, GAAA |
17 | 95/95 | 50–115/73–162 | Yes | High | Pure | GAAA |
18 | 90/90 | 47–127/70–195 |  | Medium | Interrupted | GAG, GAAA |
19 | 90/90 | 44–97/66–149 |  | Medium | Interrupted | GAG |
20 | 89/89 | 49–130/73–184 |  | Medium | Interrupted | GAG |
21 | 89/89 | 50–132/73–183 |  | Low | Pure |  |
22 | 85/85 | 53–121/75–163 |  | Low | Interrupted | GAG |
23 | 85/85 | 44–114/66–165 |  | Medium | Pure |  |
24 | 84/84 | 48–106/67–153 |  | Medium | Interrupted | GAG, GAAA |
25 | 83/83 | 38–121/63–178 |  | Medium | Pure |  |
26 | 82/82 | 49–94/64–129 |  | High | Interrupted | GAG, GAAA |
27 | 82/82 | 40–124/64–210 |  | Medium | Interrupted | GAG, GAAA |
28 | 82/82 | 48–102/65–151 |  | Medium | Interrupted | GAG, GAAA |
29 | 79/79 | 39–98/61–150 |  | Medium | Interrupted | GAG |
30 | 79/79 | 49–103/67–165 |  | Medium | Interrupted | GAG, GAAA |
31 | 66/66 | 45–84/59–114 |  | High | Interrupted | GAG, GAAA |