Table 2 Families in which the causative variants are a combination of a recessive NEB SV and a pathogenic SNV or indel.

F13

CRM

_1_89i

Dup

c.(-17852_-8212)_(12330+529_12331-408)dup

p.?

N/A

(19,29)

129

c.19944G>A

p.(Ser6648=)

N/A

(19.29)

F14

1

_1_51i

Dup

c.(1-98699_1-18980)_(6807+1_6808-1)dup

p.?

N/A

(19)

78

c.11610C>A

p.(Tyr3870*)

N/A

(19)

F15

3

_1_24i

Del

c.(-17852_-203)_(2310+1_2311-1)del

p.?

Mat

(16,19)

129

c.19913G>C

p.(Arg6638Pro)

Pat

(19)

F16

2

42i_45i

Del

c.5238+335_5764-407del

p.(Arg1747_Asp1921del)

N/A

(19)

155

c.22594C>T

p.(Arg7532*)

N/A

(19)

F17

0

42i_45i

Del

c.5238+335_5764-407del

p.(Arg1747_Asp1921del)

N/A

(19)

130

c.19992_19999dup

p.(Asp6667Valfs*16)

N/A

(19)

F18

2

52i_54i

Del

c.6916-163_7431+211del

p.(Tyr2306_Asp2477del)

Pat

(16,19)

36i

c.3987+1_3987+2inv

p.spl?

Mat

(19,25)

F19

0

69_71i+ins

Del

c.10080_10452+2141del;ins

[AATT;ins9414+1085_9414+1189]

p.?

N/A

(6)

57

c.7674C>G

p.(Tyr2549*)

N/A

(19)

F20

3

71i_89i

Dup

c.(10452+349_10452+575)_(13788+1_13789-1)dup

p.?

Both

U

F21

2

73_73i

Del

c.10798_10873-134del

p.?

Pat

(19)

173

c.24480_24483del

p.(Asn8160Lysfs*19)

Mat

(19)

F22

2

75i_77

Del

c.11181+333_11352delins

GCAGCTCGGCCACCACATTGGT

p.?

N/A

U

172

c.24480_24483del

p.(Asn8160Lysfs*19)

N/A

(19)

F23

1

87i_105i

Del

c.(c.12330+169_12330+209)_(17013+655_17013+1841)del

p.?

Mat

U

169

c.24094C>T

p.(Arg8032Ter)

Pat

U