Table 1 GBA genotypes of 62 Korean Gaucher disease patients from 58 unrelated families

1

F

I

p.G85E (exon 3)

p.R159W (exon 5)

32

M

II

p.N425K (exon 9)

p.L483P (exon 10)

2

F

I

p.G85E (exon 3)

p.R296Q (exon 7)

33

F

II

p.F252I (exon 6)

p.P240H (exon 6)

3

F

I

p.G85E (exon 3)

p.R296Q (exon 7)

34

F

II

p.W420* (exon 9)

p.L483P (exon 10)

4

F

I

p.G85E (exon 3)

Rec8a

35

M

II

p.N227S (exon 6)

p.N227K (exon 6)

5

M

I

p.G85E (exon 3)

p.D438N (exon 9)

36

M

II

p.V211fs (exon 6)

p.R296Q (exon 7)

6

M

I

p.G85E (exon 3)

p.F252I (exon 6)

37

M

II

p.L483P (exon 10)

p.V211fs (exon 6)

7^a

F

I

p.G85E (exon 3)

p.F252I (exon 6)

38

M

II

p.R296Q (exon 7)

p.R296Q (exon 7)

8^a

M

I

p.G85E (exon 3)

p.F252I (exon 6)

39

F

II

p.L483P (exon 10)

IVS2 + 1 G > A

9

M

I

p.G85E (exon 3)

p.F252I (exon 6)

40

M

II

p.G241R (exon 6)

p.R296Q (exon 7)

10

F

I

p.G85E (exon 3)

p.L483P (exon 10)

41

M

II

p.V230G (exon 6)

p.R296Q (exon 7)

11

F

I

p.G85E (exon 3)

p.L483P (exon 10)

42

F

III

p.V211fs (exon 6)

p.N227S (exon 6)

12

M

I

p.G85E (exon 3)

p.L483P (exon 10)

43

F

III

p.N227S (exon 6)

p.V211fs (exon 6)

13

F

I

p.G85E (exon 3)

p.L483P (exon 10)

44

F

III

p.V230G (exon 6)

p.L483P (exon 10)

14

M

I

p.G85E (exon 3)

p.L483P (exon 10)

45

M

III

p.L483P (exon 10)

p.L483P (exon 10)

15

F

I

p.G85E (exon 3)

p.I442T (exon9)

46

F

III

p.F252I (exon 6)

p.L483P (exon 10)

16

M

I

p.G85E (exon 3)

p.G85E (exon 3)

47

M

III

p.V211fs (exon 6)

p.N227S (exon 6)

17

F

I

p.G85E (exon 3)

p.G85E (exon 3)

48

F

III

p.L483P (exon 10)

p.V230G (exon 6)

18

M

I

p.G85E (exon 3)

p.V230G (exon 6)

49

F

III

p.F252I (exon 6)

p.R296Q (exon 7)

19

M

I

p.V54L (exon3)

p.L483P (exon 10)

50

M

III

p.F252I (exon 6)

p.F252I (exon 6)

20^b

M

I

p.R87W (exon 3)

p.R296Q (exon 7)

51

M

III

p.F252I (exon 6)

p.L483P (exon 10)

21^b

M

I

p.R87W (exon 3)

p.R296Q (exon 7)

52

F

III

p.F252I (exon 6)

p.G416S (exon 9)

22

F

I

p.N227S (exon 6)

p.L483P (exon 10)

53^d

F

III

p.N227S (exon 6)

p.R296Q (exon 7)

23

M

I

p.N227S (exon 6)

p.L483P (exon 10)

54^d

F

III

p.N227S (exon 6)

p.R296Q (exon 7)

24

F

I

p.F252I (exon 6)

p.L483P (exon 10)

55

M

III

p.F252I (exon 6)

p.F252I (exon 6)

25

F

I

p.R316C (exon 9)

p.L483P (exon 10)

56

F

III

p.P240H (exon 6)

p.L483P (exon 10)

26 ^c

M

I

p.D448H (exon 9)

p.L483P (exon 10)

57

M

III

p.L483P (exon 10)

p.L483P (exon 10)

27 ^c

M

I

p.D448H (exon 9)

p.L483P (exon 10)

58

F

III

p.G241R (exon 6)

p.N227S (exon 6)

28

F

I

p.D448H (exon 9)

p.L483P (exon 10)

59

M

III

p.D448H (exon 9)

p.L483P (exon 10)

29

F

I

p.R535H (exon 11)

p.L483P (exon 10)

60

M

III

p.F252I (exon 6)

p.D354E (exon8) + Rec1b

30

F

I

p.L483P (exon 10)

p.L483P (exon 10)

61

F

III

p.N227S (exon 6)

Rec5b

31

M

I

p.R535H (exon 11)

Rec1a

62

M

III

p.L483P (exon 10)

p.F252I (exon 6)