. 2014 Dec 23;20:1732–1739.

Table 1. Identified CNGA3 gene mutations.

Patient	Mutation	Effect of mutation	Allelic state	References
p5	c.829C>T (allele 1)	p.R277C	heterozygous	Wissinger et al., Am. J. Hum. Genet., 2001
p5	c.1641C>A (allele 2)	p.F547L	heterozygous	Kohl et al., Nat Genet., 1998
p6	c.829C>T (allele 1)	p.R277C	heterozygous	Wissinger et al., Am. J. Hum. Genet., 2001
p6	c.1641C>A (allele 2)	p.F547L	heterozygous	Kohl et al., Nat Genet., 1998
p7	c.1641C>A	p.F547L	homozygous	Kohl et al., Nat Genet., 1998
p8	c.829C>T (allele 1)	p.R277C	heterozygous	Wissinger et al., Am. J. Hum. Genet., 2001
p8	c.847C>T (allele 2)	p.R283W	heterozygous	Kohl et al., Nat Genet., 1998
p9	c.1641C>A	p.F547L	homozygous	Kohl et al., Nat Genet., 1998
p10	c.830G>A	p.R277H	homozygous	Wissinger et al., Am. J. Hum. Genet., 2001