Molecular Vision: Redeker, Mol Vis 2008; 14:836-840. Table 2

Table 2 of Redeker, Mol Vis 2008; 14:836-840.

Table 2. Point mutations in the PAX6 gene.

Patient	DNA change	Consequence	Reference
1 and 53	c.-52+1G>A	Splice defect	[15]
6 and 74	c.301delG	p.Glu101LysfsX22	Database*
9	c.489T>G	p.Tyr163X	New
11, 12	c.399+5G>A	Splice defect	New
16	c.181_189delinsCA	p.Tyr61GlnfsX15	New
19	c.34G>C	p.Gly12Arg	New
20	c.406C>T	p.Gln136X	[16]
21	c.-52+5G>C	Splice defect	New
22, 48, 75	c.1268A>T	p.X423Leu	[17]
23, 29, 79	c.718C>T	p.Arg240X	[18]
26	c.640A>G	p.Arg214Gly	New
30, 49	c.114_121del8	p.Pro39HisfsX13	New
35	c.844_845delCC	p.Pro282X	New
36	c.112delC	p.Arg38GlyfsX15	New
37	c.117insGGCC	p.Cys40GlyfsX15	New
41, 51, 68	c.949C>T	p.Arg317X	[16]
42	c.299G>A	p.Trp100X	[19]
44	c.77G>C	p.Arg26Pro	New
58	c.365C>A	p.Ser122X	New
61	c.400–1G>C	Splice defect	New
63	c.143T>A	p.Val48Glu	New
64	c.1074+1G>A	Splice defect	[15]
66	c.265_266insC	p.Gln89ProfsX2	New
76	c.781C>T	p.Arg261X	[15]