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

Table 4

Novel truncating and nonsense EYS mutations found in this study.

Mutation	DNA variant	Protein variant	Diagnosis
1	c.179delT	p.L60W fs^*3	RP
2	IVS27-3_4insT	—	RP
3	IVS38-1G>T	—	RP
4	c.2380C>T	p.R794^*	RP
5	c.4557delA	p.A1520P fs^*30	RP
6	c.5202_5203delGT	p.F1735Q fs^*6	RP
7	c.6869_6896delCCATATTCCTGCAAATGTTCAAATTGATAAGAAAG	p.P2290Q fs^*12	RP
8	c.6897_6902dupAGGTCC	p.G2300_P2301dup	RP
9	c.6976C>T	p.R2326^*	RP
10	c.7836_7837delTC	p.P2613L fs^*18	RP
11	c.8196_8200delCTTTC	p.F2733C fs^*33	RP
12	c.8439_8442dupTGCA	p.E2815C fs^*19	RP
13	c.8921C>A	p.S2974^*	RP

Truncating and nonsense variants.