Table 4 Genetic variants in enrolled individuals

16

GLDC

Del exons 16-26

absent

c.605C>T

p.Ala202Val

1

17

AMT

c.317C>T

p.Ile106Thr

c.959G>A

p.Arg320His

1

19

GLDC

c.1055C>G

p.Thr352Arg

c.2405C>T

p.Ala802Val

1

23

AMT

c.317T>C

p.Ile106Thr

c.317T>C

p.Ile106Thr

2

28

GLDC

c.2714T>C

p.Val905Gly

c.2183G>A

p.Gly728Glu

1

34

GLDC

c.2455A>G

p.Lys819Glu

Del exons 3-20

absent

NA

44

GLDC

c.605C>T

p.Ala202Val

c.2665+1G>C

IVS22-1G>C

1

45

GLDC

c.1183T>C

p.Phe395Leu

c.2629G>A

p.Glu866*

1

49

GLDC

c.1889G>C

p.Arg630Pro

c.1642C>G

p.Leu548Val

NA

70

GLDC

c.2315+2T>G

IVS19+2T>G

c.2405C>A

p.Ala802Glu

1

71

GLDC

c.605C>T

p.Ala202Val

c.2665+1G>C

IVS22-1G>C

1

73

GLDC

c.1738C>G

p.His580Asp

c.1844C>T

p.Pro615Leu

NA