Molecular Vision: Fei, Mol Vis 2014; 20:395-409. Table 1

Table 1. All sequence variants of known FEVR disease causing genes in patients with familial exudative vitreoretinopathy.

Patient	Gene (chromo some)	Chromosome start and end (hg19)	referred base	altered base	homozygous/ heterozygous	region	change	Nucleotide variant	Effect	dbSNP132
Patient 1	FZD4 (chr11)	86657520	A	G	het	UTR3				rs713065
		86658244	CAAA	-	het	UTR3				rs34325935
		86658245	CAAACAAA	-	het	UTR3
		86660449	A	-	het	UTR3
		86660612	C	G	hom	UTR3				rs4944641
		86660886	G	A	hom	UTR3				rs3802892
	LRP5 (chr11)	68131167	A	T	hom	intron				rs10791978
		68154032	G	A	het	exon 6	nonsynonym-ous SNV	c.1264G>A	p.A422T
		68171013	T	C	hom	exon 8	synonymous SNV	c.1647T>C	p.F549F	rs545382
		68174122	G	A	hom	exon 9	synonymous SNV	c.1932G>A	p.E644E	rs2277268
		68177614	T	C	hom	intron				rs4988322
		68179032	A	C	het	exon 11	nonsynonym-ous SNV	c.2447A>C	p.Q816P
		68179125	C	T	hom	intron				rs2242339
		68192690	G	A	het	exon 15	synonymous SNV	c.3357G>A	p.V1119V	rs556442
		68204445	C	T	het	exon 19	synonymous SNV		p.D1363D	rs3736229
		68206173	T	C	het	intron				rs901824
	TSPAN12 (chr7)	120428607	G	A	hom	UTR3				rs41622
		120428799	C	A	hom	exon 8	synonymous SNV	c.765G>T	p.P255P	rs41623
		120450658	G	A	hom	intron				rs7805733
		120450678	-	CA	hom	intron				rs112555207
Father of Patient 1	FZD4 (chr11)	86657520	A	G	het	UTR3				rs713065
		86658244	CAAA	-	het	UTR3				rs34325935
		86660449	A	-	het	UTR3
		86660612	C	G	hom	UTR3				rs4944641
		86660886	G	A	het	UTR3				rs3802892
	LRP5 (chr11)	68131167	A	T	hom	intron				rs10791978
		68154032	G	A	het	exon 6	nonsynonym-ous SNV	c.1264G>A	p.A422T
		68171013	T	C	hom	exon 8	synonymous SNV	c.1647T>C	p.F549F	rs545382
		68174122	G	A	het	exon 9	synonymous SNV	c.1932G>A	p.E644E	rs2277268
		68177319	A	-	het	intron
		68177614	T	C	het	intron				rs4988322
		68179125	C	T	het	intron				rs2242339
		68179166	A	G	hom	intron				rs689179
		68192690	G	A	hom	exon 15	synonymous SNV	c.3357G>A	p.V1119V	rs556442
	TSPAN12 (chr7)	120428607	G	A	hom	UTR3				rs41622
		120428799	C	A	hom	exon 8	synonymous SNV	c.765G>T	p.P255P	rs41623
		120450658	G	A	hom	intron				rs7805733
		120450678	-	CA	het	intron				rs112555207
		120450710	GT	-	het	intron
Patient 2	FZD4 (chr11)	86660449	A	-	het	UTR3
	FZD4 (chr11)	86660612	C	G	hom	UTR3				rs4944641
	LRP5 (chr11)	68131167	A	T	hom	intron				rs10791978
		68170985	T	C	het	exon 8	nonsynonym-ous SNV	c.1619T>C	p.L540P
		68171013	T	C	hom	exon 8	synonymous SNV	c.1647T>C	p.F549F	rs545382
		68179166	A	G	hom	intron				rs689179
		68181208	C	T	het	exon 12	nonsynonym-ous SNV	c.2555C>T	p.T852M
		68192690	G	A	hom	exon 15	synonymous SNV	c.3357G>A	p.V1119V	rs556442
	TSPAN12 (chr7)	120428607	G	A	hom	UTR3				rs41622
		120428799	C	A	hom	exon 8	synonymous SNV	c.765G>T	p.P255P	rs41623
		120450658	G	A	hom	intron				rs7805733
		120450679	CA	-	hom	intron
		120498053	-	A	het	UTR5
Mother of Patient 2	FZD4 (chr11)	86660886	G	A	het	UTR3				rs3802892
	LRP5 (chr11)	68131167	A	T	hom	intron				rs10791978
		68170985	T	C	het	exon 8	nonsynonym-ous SNV	c.1619T>C	p.L540P
		68171013	T	C	hom	exon 8	synonymous SNV	c.1647T>C	p.F549F	rs545382
		68179166	A	G	hom	intron				rs689179
		68192690	G	A	hom	exon 15	synonymous SNV	c.3357G>A	p.V1119V	rs556442
	TSPAN12 (chr7)	120428607	G	A	hom	UTR3				rs41622
		120428799	C	A	hom	exon 8	synonymous SNV	c.765G>T	p.P255P	rs41623
		120450658	G	A	hom	intron				rs7805733
		120450679	CA	-	het	intron
		120450680	CACA	-	het	intron
		120498053	-	A	het	UTR5