Group

AAD

AADf

AADmm

hEDS

cEDS

BJH

DysA

NotEDS EDS

DD

Patients with preliminary diagnoses (% of those evaluated for EDS or DD)

1656 (100)

1337 (81)

319 (19)

1138 (69)

329 (20)

82 (5.0)

79 (4.8)

28 (1.7)

728 (100)

Patients with preliminary diagnoses having WES (% of those evaluated)

727 (45)

613 (47)

114 (37)#

503 (45)

160 (50)

31 (39)

29 (37)

4 (14)#

102 (14)#

DNA variants as reported by GeneDxa

Patients having a variant (% of those having WES)

440 (61)

370 (60)

70 (61)

298 (59)

96 (60)

20 (65)

22 (76)

4 (100)#

79 (78)#

Total number of variants

(% of total variants)

636 (100)

539 (86)

97 (16)

425 (68)

149 (24)

28 (4.5)

30 (4.8)

4 (0.64)

131 (100)

Patients with only a MT-DNA variant (% of those having WES)

75 (11)

63 (10)

12 (11)

46 (9.1)

18 (11)

4 (13)

6 (21)

1 (25)

2 (2.0)#

Number of MT-DNA variants (% of total variants)

111 (17)

94 (18)

17 (17)

71 (17)

27 (18)

5 (18)

7 (23)

1 (25)

2 (1.5)

Patients with nuclear DNA ± MT-DNA variant (% of those having WES)

365 (50)

307 (50)

58 (51)

252 (50)

78 (49)

16 (52)

16 (55)

3 (75)

77 (75)#

Number of nuclear DNA variants (% of total variants)

525 (83)

445 (82)

80 (83)

354 (83)

122 (82)

23 (82)

23 (77)

3 (75)

129 (100)

Patients with CTD-related likely pathogenic/pathogenic variant (“)

16 (4.4)

12 (2.0)#

4 (3.5)

9 (1.8)#

1 (0.63)#

2 (6.4)

3 (10)

1 (25)#

1 (0.98)

DNA variants as qualified by the authorb in Figure 2

Patients with variant of likely relevance to AADb (% if those having WES)

148 (20)

123 (20)

25 (22)

100 (20)

33 (21)

8 (26)

6 (21)

1 (25)

5 (4.9)#

Number of variants likely relevant to AADb (% of total variants)

169 (27)

138 (26)

31 (32)

116 (27)

36 (24)

9 (32)

7 (23)

1 (25)

5 (3.8)

Patients with variants previously related to CTDc (% if those having WES)

75 (10)

60 (9.8)

15 (13)

50 (9.9)

17 (11)

5 (16)

2 (6.9)

1 (25)

1 (0.98)#

Patients with variants newly related to AADd (% if those having WES)

73 (10)

63 (10)

10 (8.7)

50 (9.9)

16 (10)

3 (10)

4 (14)

0

4 (3.9)#

Patients with variants possibly relevant

to AADb (% if those having WES)

227 (32)

194 (32)

33 (29)

154 (31)

49 (31)

8 (26)

13 (45)

3 (75)

1 (0.98)#

Number of variants possibly relevant to AADb (% of total variants)

390 (61)

344 (64)

46 (47)

262 (62)

95 (64)

11 (39)

19 (66)

3 (75)

1 (0.77)

Patients with only VNODU or V*DUO variantse (% of those having WES)

65 (8.9)

53 (8.6)

12 (11)

44 (8.7)

14 (8.8)

4 (13)

3 (10)

0

73 (72)#

Number of VNODU or V*DUO variantse (% of total variants)

77 (12)

57 (11)

20 (21)

47 (7.4)

18 (12)

8 (29)

4 (1.3)

0

123 (95)

Maternally inherited variants of likely or possible relevance to AAD (“)

167 (32)@

147 (34)

29 (36)

110 (32)

47 (41)#

10 (43)

8 (31)

0

25 (19)#

Paternally inherited variants of likely or possible relevance to AAD (“)

111 (21)@

94 (21)

17 (21)

82 (23)

18 (16)

7 (30)

4 (15)

0

28 (22)