Table 3 Genotype according to phenotype of each GD patient (n = 27)

GD-5

1

0.24 (3.1)

p.L483P

p.N409S

Same

GD-17

1

0.72 (9.3)

p.L483P

p.A175G

p.L483P

p.P305A

GD-19

1

0.67 (8.6)

p.L483P

Unidentified

Same

GD-23

1

0.96^d (13.5)

p.V414L

IVS6−1G>C

Same

GD-11

2

0.01 (0.1)

p.L483P

IVS2+1G >A

p.L483P

p.R159W

GD-14

2

1.99 (25.6)

IVS2+1G>A

IVS9−3C>G

Same

GD-16

2

0.01 (0.1)

p.L483P

p.F346L, IVS2+1G>A

p.L483P

IVS2 +1G>A

GD-18

2

0.65 (8.4)

p.L483P

p.L483P

p.L483P

Rec1a

GD-22

2

0.37 (4.8)

p.D448H

IVS2+1G >A

Same

GD-25

2

0.61^d (8.6)

p.L483P

IVS2+1G>A

Same

GD-27

2

1.06^e (12.5)

p.L483P

p.L483P

p.L483P

IVS6−1G>C

GD-29

2

0.2 ^g (16.7)

p.L483P

IVS7+1G>A

ND

GD-30

2

NA

ND

ND

GD-31

2

NA

ND

ND

GD-28

Neonatal

1.05^f (13.2)

p.L483P

p.S384F + p.W533*

Same

GD-4

3b

0.32 (4.1)

p.L483P

p.L483P

Same

GD-6

3b

0.65 (8.4)

p.L483P

p.L483P

Same

GD-7

3b

0.12 (1.5)

p.L483P

p.L483P

Same

GD-8^a

3b

0.58 (7.5)

p.L483P

p.L483P

Same

GD-9^b

3b

0.17 (2.2)

p.L483P

p.L483P

Same

GD-10

3b

1.19 (15.3)

p.L483P

p.L483P

Same

GD-12

3b

0.47 (6.0)

p.L483P

p.L483P

Same

GD-13

3b

0.58 (7.5)

p.L483P

p.L483P

Same

GD-15

3b

1.74 (22.4)

p.L483P

p.L483P

Same

GD-20

3a/b

NA

p.L483P

p.A175G

p.A175G

Rec1a

GD-24

3a/b

1.21^d (17.0)

p.L483P

p.L483P

Same

GD-26

3a/b

1.11^d (15.6)

p.L483P

p.L483P

Same