BMC Genomic Data

Table 4 Exon-by-exon distribution of 29 mutations that cause phenotypes other than aniridia.

From: PAX6 mutations: genotype-phenotype correlations

Exon	4	5	5a	6	7	8	9	10	11	12	13
Mutation type												Total
N	0	0	0	0	0	1	0	0	0	1	0	2
S	1	0	0	0	0	0	0	0	1	0	0	2
FS	0	1	0	0	0	0	0	0	0	1	1	3
IF	0	0	0	0	0	0	0	0	0	0	0	0
M	0	2	5	4	3	0	0	1	0	4	1	20
RO	0	0	0	0	0	0	0	0	0	0	2	2
Total	1	3	5	4	3	1	0	1	1	6	4	29

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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