Molecular Vision: Fei, Mol Vis 2014; 20:395-409. Table 2

Table 2. LRP5 sequence variants in patients with familial exudative vitreoretinopathy from previous reports.

Nucleotide variant	Effect	Exon	Occurrence in patients (probands)	Occurrence in control alleles	Disease	Reference
Truncating changes
c.803_812del	p.G269RfsX4	4	1/56	0/362	arFEVR	[9]
c.2978G>A	p.W993X	13	1/8	0/100	FEVR	[10]
c.3804delA	p.E1270RfsX169	18	1/32	0/400,	FEVR,	[27, 28]
c.4119dupC	p.L1374QfsX176	20	1/32	0/400	FEVR	[28]
c.891–892delTC	p.Arg298Leu fsX2	5	1/49	0/96	FEVR	[37]
Missense changes
c.433C>T	p.L145F	2	1/56	0/362	FEVR	[9]
c.518C>T	p.T173M	3	1/32	0/400	FEVR	[28]
c.1264G>A	p.A422T	6	1/71	0/300	FEVR	This study
c.1321G>A	p.E441K	6	1/8	0/100	FEVR	[10]
c.1330C>T	p.R444C	6	1/56	0/362	FEVR	[9]
c.1532A>C	p.D511A	7	0.05	0/80	FEVR	[38]
c.1564G>A	p.A522T	7	1/56	0/362	FEVR	[9]
c.1604C>T	p.T535M	8	1/56	0/362	arFEVR	[9]
c.1619T>C	p. L540P	8	1/71	0/300	FEVR	This study
c.1648G>A	p.G550R	8	1/1	0/120	arFEVR	[29]
c.1709G>A	p.R570Q	8	1/3	0/200	arFEVR	[26]
c.1828G>A	p.G610R	9	1/56	0/362	arFEVR	[9]
c.1850T>G	p.F617C	9	1/56	0/362	arFEVR	[9]
c.2302C>G	p.R752G	19	1/3	0/200	arFEVR	[26]
c.2392A>G	p.T798A	11	1/56	0/362	FEVR	[9]
c.2413C>T	p.R805W	11	1/20	0/80	FEVR	[38]
c.3361A>G	p.N1121D	15	1/56	0/362	FEVR	[9]
c.3502T>C	p.Y1168H	16	1/32	0/400	FEVR	[28]
c.3758G>T	p.C1253F	17	1/8	0/100	FEVR	[10]
c.4081T>G	p.C1361G	19	1/32	0/400	FEVR	[28]
c.4147G>A	p.E1367K	20	1/3	0/200	arFEVR	[26]
c.2484C>G	p.Ile828Met	11	1/49	0/96	FEVR	[37]
c.2626G>A	p.Gly876Ser	12	1/49	0/96	FEVR	[37]
c.4025G>A	p.Arg1342Gln	19	1/49	0/96	FEVR	[37]
c.4087G>A	p.Asp1363Asn	19	1/49	0/96	FEVR	[37]
Splice-site changes
c.4488+2T>G	Splice defect	21	1/32	0/400	FEVR	[28]
c.4489–1G>A	Splice defect	22	1/8	0/100	FEVR	[10]