Table 3. Pathogenic predictions of all novel missense mutations.

Gene	DNA change	Protein change	Mutation taster	PolyPhen	SIFT	MAF in various WES databases
						Israeliin-housedatabase(N = 408)	EVS(N = 6,500)	ExAC(N = 66,000)
ADAM9	c.1087T>A	p.C363S	Disease causing	1	0.00 Damaging	0	0	0
CDH3	c.2200G>A	p.V734M	Disease causing	1	0.06 Tolerated	0	0	3*10−5
CDHR1	c.1T>G	p.M1L	Disease causing	0	0.54 Tolerated	0	0	0
CNNM4	c.1494C>A	p.D498E	Disease causing	1	0.00 Damaging	0	0	0
RPE65	c.227A>C	p.H76P	Disease causing	0.059	0.11 Tolerated	0	0	0
RPE65	c.329A>G	p.D110G	Disease causing	0.998	0.31 Tolerated	0	0	0
USH2A	c.6937G>T	p.G2313C	Disease causing	1	0.00 Damaging	1*10−3	8*10−5	1*10−4