Table 1 General characteristics of GAA expansions of all samples with biallelic GAA expansions in the UK Biobank

From: Base editing of trinucleotide repeats that cause Huntington’s disease and Friedreich’s ataxia reduces somatic repeat expansions in patient cells and in mice

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

  1. Supporting data are included in Supplementary Table 1 and Supplementary Note 1. ID, patient identifier; EHv4: genotype, the diploid FXN genotype reported by ExpansionHunter v.4 for this sample, in the format: ‘number of repeats in allele 1/number of repeats in allele 2’; EHv4: genotype CI, ExpansionHunter’s reported confidence intervals for the genotype, having the format: ‘allele1_lower_bound–allele1_upper_bound/allele2_lower_bound–allele2_upper_bound’ (Methods).