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Table 3 Exon-by-exon distribution of 257 mutations that cause aniridia.

From: PAX6 mutations: genotype-phenotype correlations

Exon

4

5

5a

6

7

8

9

10

11

12

13

 

Mutation type

           

Total

N

0

6

0

9

7

23

23

14

16

2

0

100

S

1

4

0

4

1

1

4

6

4

9

0

34

FS

0

13

0

19

11

4

4

6

1

5

2

65

IF

0

3

0

13

0

0

0

0

0

0

0

16

M

3

11

0

10

0

2

1

0

0

2

1

30

RO

0

0

0

0

0

0

0

0

0

0

12

12

Total

4

37

0

55

19

30

32

26

21

18

15

257

  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.
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BMC Genomic Data

ISSN: 2730-6844

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