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. 2015 Mar 19;56(3):1937–1946. doi: 10.1167/iovs.14-16065

Table 3.

Segregation Testing was Used to Validate 14 Variants in 11 Families

Family ID	Variant Tested	Reported	Patients With DNA Samples
14023	LRP5; c.2716_2719del, p.C906fs, frameshift	Novel	14023001, 14023002, 14023003, 14023004, 14023005, 14023006*
1346	LRP5; c.4049T>G, p.L1350R, missense	Novel	1346001, 1346002, 1346005, 1346007*
1346	LRP5; c.2543C>T, p.P848L, missense	Novel	1346001, 1346002, 1346005, 1346007*
1348	LRP5; c.1265C>T, p.A422V, missense	Novel	1348001, 1348003, 1348004, 1348005, 1348006, 1348008, 1348009*
1348	LRP5; c.1042C>T, p.R348W, missense	Novel
14020	LRP5; c.2318G>A, p.G773D, splicing	Novel	14020001, 14020002, 14020003*
14020	LRP5; c.119G>A, p.R40H, missense	Novel	14020001, 14020002, 14020003*
1080	FZD4; c.1501_1502del, p.S501fs, frameshift	Reported	1080001,* 1080003
1404	FZD4; c.1282_1285del, p.N428fs, frameshift	Reported	14045001, 14045002*
1344	FZD4; c.610T>C, p.C204R, missense	Reported	1344001, 1344002, 1344003, 1344004, 1344005, 1344006, 1344010, 1344012,* 1344017, 1344018
7794	NDP; c.196G>T, p.E66X, stopgain	Novel	7794001,* 7794002
13788	NDP; c.196G>T, p.E66X, stopgain	Novel	13788001, 13788003*
14024	NDP; c.393C>A, p.C131X, stopgain	Novel	14024001, 14024003*
810	TSPAN12; c.612+1G>A, splicing	Novel	810001, 810002, 810006,* 810007, 810008, 810020
14022	ZNF408; c.443G>A, p.R148Q, missense	Novel	14022001, 14022003,* 14022004

^*

Patients who originally underwent NGS.