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Table 2 Exon-by-exon distribution of 286 disease-associated mutations in the PAX6 Allelic Variant Database

From: PAX6 mutations: genotype-phenotype correlations

 

4

5

5a

6

7

8

9

10

11

12

13

 

Mutation type

           

Total

N

0

6

0

9

7

24

23

14

16

3

0

102

S

2

4

0

4

1

1

4

6

5

9

0

36

FS

0

14

0

19

11

4

4

6

1

6

3

68

IF

0

3

0

13

0

0

0

0

0

0

0

16

M

3

13

5

14

3

2

1

1

0

6

2

50

RO

0

0

0

0

0

0

0

0

0

0

14

14

Total

5

40

5

59

22

31

32

27

22

24

19

286

  1. N, nonsense mutation; S, splicing mutation; FS, frame-shifting insertion or deletion; IF, in-frame insertion or deletion; M, missense mutation; RO, run-on mutation. For a full definition of mutation types, see Table 1.