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Summary of Mutations causing rare bleeding disorders
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Table 1. Number and Type of Mutations Causing Rare Bleeding Disorders

Number of mutations by type

Deficiency

Gene

Total
number

Promoter

Missense

Nonsense

Splicing

Deletion/
Insertion

Gross deletion

Prothrombin

F2

49

38

3

2

5

1

Factor V

F5

115

50

18

11

35

1

Factor VII

F7

228*

14

141

16

27

27

3

Factor X

F10

102

81

2

7

9

3

Factor XI

F11

193

2

132

22

18

16

3

Factor XIII

F13A1

111

1

53

10

15

29

3

Factor XIII

F13B1

16

8

3

5

Combined factors V and VIII

LMAN1

33

3

7

7

16

Combined factors V and VIII

MCFD2

19

8

1

4

5

1

Vitamin K dependent factors

GGCX

11

6

1

4

Vitamin K dependent factors

VKORC1

1

1

* This number includes 40 mutations for which no information about the patients was disclosed. (See references 101 and 102 under Factor VII)

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