Mutations

Genotype

Patients, n (%)

Homozygotes

M694V/M694V

M694I/M694I

E148Q/E148Q

62 (11.2%)

28

13

9

V726A/V726A

M680I/M680I

R761H/R761H

9

2

1

Compound heterozygotes

170 (30.9%)

M694V/V726A

E148Q/M694V

M694V/M694I

M694I/V726A

M680I/V726A

M694V/R761H

E148Q/M694I

E148Q/V726A

M680I/M694V

M694I/R761H

M694V/E148Q

P369S/R408Q

E474K/R761H

E167D/F479L

Others

35

12

12

11

10

8

8

8

7

6

3

3

3

3

41

Simple heterozygotes

310 (56.4%)

E148Q/-

M694V/-

V726A/-

M694I/-

A744S/-

R761H/-

A289V/-

I259V/-

Others

92

68

52

32

21

9

7

4

25

Complex heterozygotes

8 (1.5%)

P369S/R408Q/A457V

V726Z/R7261H/E148Q

P369S/R408Q/R761H

E148Q/E148V/M694I

E167D/F479L/V726A

I692del/E148Q/E148V

P369S/R408S/V726A

2

1

1

1

1

1

1

Total

550