Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations

Table 6

Frequency of major EYS variants in 82 probands with EYS mutations.

	Exon	DNA variant	Protein variant	Allele	Frequency
EYS	ex26	c.4957_4958insA	p.S1653K fs^*2	44	26.8
EYS	ex32	c.6557G>A	p.G2186E	7	4.3
EYS	ex32	c.6563T>C	p.I2188T	8	4.9
EYS	ex44	c.8868C>A	p.Y2956^*	22	13.4

Truncating and nonsense variants.