Molecular Vision: Park, Mol Vis 2012; 18:488-494. Table 3

Table 3. Molecular Findings in Korean patients with congenital aniridia.

Case No	Mutation	Exon/Intron	Domain	mRNA/protein effect
1-1	c.11-2A>G	Intron 4	PD	Splicing error
1-2	c.11-2A>G	Intron 4	PD	Splicing error
2	c.19G>T	Exon 5	PD	p.Gly7*
3	c.87_90dup TGTA†	Exon 5	PD	p.Glu31Cysfs*26
4	c.301delG	Exon 6	PD	p.Glu101Lysfs*23
5	c.317T>A	Exon 6	PD	p.L106*
6-1	c.464delG†	Exon 7	LNK	p.Ser155Thrfs*52
6-2	c.464delG†	Exon 7	LNK	p.Ser155Thrfs*52
7-1	c.524-2A>G	Intron 7	LNK	Splicing error
7-2	c.524-2A>G	Intron 7	LNK	Splicing error
8-1	c.607C>T	Exon 8	LNK	p.Arg203*
8-2	c.607C>T	Exon 8	LNK	p.Arg203*
9	c.607C>T	Exon 8	LNK	p.Arg203*
10	c.642A>C†	Exon 8	HD	p.Arg214Ser
11	c.658G>T†	Exon 8	HD	p.Glu220*
12	c.718C>T	Exon 9	HD	p.Arg240*
13	c.901C>T	exon10	PST	p.Gln310*
14	c.949C>T	Exon 11	PST	p.Arg317*
15	c.949C>T	Exon 11	PST	p.Arg317*
16	c.1183+2T>C	Intron 12	PST	Splicing error
17	Not detected
18	Not detected