Molecular Vision: Seong, Mol Vis 2008; 14:1429-1436. Table 2

Table 2. Polymorphic sequence variations identified in this study.

Gene	Variation	Allele frequency	Reference	Gene	Variation	Allele frequency	Reference	Gene	Variation	Allele frequency	Reference
GUCY2D	c.154G>T (A52S)	0.75	[23]	RPGRIP1	c.287C>A (P96Q)	0.05	[26]	CRX	IVS3-67G>A	0.08
	c.741C>T (H247H)	0.15			c.450C>G (L150L)	0.05			IVS3-131A>T	0.03
	c.1371C>T (C457C)	0.15			c.574A>G (K192E)	0.3	[26]		c.460A>G (T154A)	0.03
	IVS5+143C>T	0.03			IVS6-14_16delAAT	0.28		RDH12	IVS2+60G>A	0.4
	IVS6+72C>T	0.03			IVS7+26T>C	0.65			IVS2-13insT	0.08
	c.2101C>T (P701S)	0.18	[24]		IVS9-65G>A	0.35			IVS2-58A>G	0.03
RPE65	c.-20G>A	0.03			IVS11-8C>T	0.03			IVS3-115G>C	1
	IVS3-46G>A	0.15			IVS13+148delG	0.03			c.482G>A (R161Q)	0.08	[28]
	IVS9+112T>C	0.25			c.1797G>A (P599P)	0.03			c.570C>T (S190S)	0.03
	c.1056G>A (E352E)	0.33			c.3097G>C (E1033Q)	0.43	[26]	TULP1	IVS1+57T>C	0.03
	IVS12+20A>C	0.4			IVS21-148T>G	0.03			IVS1+58G>C	0.03
AIPL1	c.1-106C>A	0.3			IVS21-27T>A	0.03			IVS1+62_67delAGTGGG	0.03
	c.1-107G>A	0.03			IVS22+154A>G	0.1			IVS2+18G>A	0.08
	IVS1+36C>T	0.08			IVS23+17delT	0.03			IVS2+154A>G	0.73
	IVS1+45T>C	0.08		CRB1	IVS1-12A>T	0.83			IVS3+81G>C	0.53
	IVS1+105C>A	0.08			c.747C>T (D249D)	0.03			c.200C>G (T67R)	0.85	[29]
	IVS1+148G>A	0.03			IVS3-64A>G	0.03			IVS4-29C>T	0.03
	c.268G>C (D90H)	0.3	[25]		IVS3-35T>C	0.68			IVS5+26C>T	0.75
	IVS2-14G>A	0.03			IVS4+35C>T	0.1			IVS5+170T>C	0.7
	IVS2-10A>C	0.45			IVS4-53T>G	0.68			IVS7+108A>G	0.55
	c.300A>G (L100L)	0.53			c.1410A>G (L470L)	1			IVS7-63G>A	0.8
	IVS3-26T>C	0.1			c.2306G>A (R769H)	0.05	[27]		c.776T>C (I259T)	0.58	[30]
	IVS4+48G>A	0.5			IVS7-129C>A	0.03			c.783G>C (K261N)	0.83
	IVS4-33C>T	0.33			c.2796G>A (P932P)	0.03			IVS8+83G>A	0.03
	c.651A>G (P217P)	0.73			c.2809G>A (A937T)	0.03			IVS8-76T>C	0.13
	IVS5+18G>A	0.08			IVS8+87C>G	0.03			IVS8-17G>C	0.28
	IVS5+89C>T	0.33			IVS10+88insT	0.1			IVS13+90A>G	0.1
									IVS13-87T>C	0.05