Molecular Vision: Burdon, Mol Vis 2008; 14:1799-1804. Table 2

Table 2. Polymorphisms identified in candidate genes in family with total congenital cataract.

Gene	No. coding exons	Affected samples sequenced	dbSNP identifier	Location of variant	Codon	MAF freq in dbSNP	Reference allele	Genotype affected 1	Genotype affected 2	Genotype Unaffected 16.13
HSPB7	3	16.07, 16.15	rs1572381	Exon 1	5′ UTR	0.30*	C	TC	CC	TT
			rs945416	Exon 1	S19S	0.38	C	TC	CC	TT
			rs732286	Exon 1	A33A	0.44	T	CT	TT	TT
			rs1739840	Exon 3	T117T	0.35	T	TC	TT	CC
FBXO42	9	16.08, 16.15	rs2273311	Exon 2	S5S	0.21*	G	AG	AA
			rs12069239	Exon 10	A471P	0.36	G	CG	CC
			rs35196193	Exon 10	T509A	N/A	G	GA	GG
EFHD2	4	16.08, 16.15
ZBTB17	14	16.08, 16.15	rs848217	Exon 6	A207A	0.11	T	CT	CT	CT
			rs9661939	Exon 8	F334F	0.15**	C	CC	CC	CT
			rs12134932	Intron 8		N/A	G	GT	GT	GG
CAPZB	9	16.08, 16.15	rs169957	Intron 5		0.37	C	CA	CA
FBLIM1	7	16.08, 16.15	rs12146078	Intron 5		0.21	C	TT	CT
			rs10927851	Exon 6	F191S	0.24	C	TT	TT
ALDH4A1	15	16.02, 16.05	rs941495	Intron 3		N/A	A	GG	GG	GG
			rs6426611	Intron 7		0.10#	C	CC	CC	CT
			rs28497538	Intron 9		N/A	A	CA	CA	AA
			rs6426813	Intron 9		0.41	G	CT	TT	TT
			rs2230705	Exon 10	A350A	0.23	C	CC	CC	CG
			rs41310410	Exon 10	P362P	0.03###	G	GA	GA	GG
			rs2230706	Exon 12	A407A	0.33##	A	GA	GA	GG
			rs7550938	Exon 12	S140S	0.27	A	GA	GA	GA
			rs2230707	Exon 12	A417A	0.33	C	CT	CT	CC
			rs7550822	Intron 12		N/A	A	GG	GG	GG
			rs2230708	Exon 13	D460D	0.21	T	CT	CT
			rs2230709	Exon 13	I470V	0.14	G	GA	GA
			rs35657817	Intron 14		N/A	G	GA	GA
			rs11740	Exon 15	3′ UTR	0.38	G	GA	N/A	AA
MFAP2	8	16.03, 16.08	rs2235932	Intron 3		0.33	C	TT	TT
			rs761422	Exon 6	H144H	0.44	A	GG	GG
			rs761423	Intron 6		0.49	T	CC	CC
			rs1051225	Exon 9	3′ UTR	0.45	T	TT	CC

The number of coding exons sequenced is given. Exons representing only the untranslated regions were not examined. Non-synonymous variants are highlighted in bold. The minor allele frequency (MAF) reported in dbSNP is shown. Where possible, this is the lowest reported value for Caucasian populations. If unavailable, the value for other ethnic groups is shown as indicated. An asterisk indicates an Asian sample; a double asterisk denotes an African American sample; a single hashmark (#) denotes an African sample; the double hashmark (##) indicates that it is a mixed sample; and three hashmarks (###) denotes allele frequency determined in this study in 77 unrelated controls. The reference allele and genotypes for family members sequenced are also given.