Table 1. Variants determined to be non-causative after analysis of affected and/or unaffected family members.

			Detected variant(s)
UID	Eye phenotype	Gene		Allele 1		Detected in	Result segregation analysis
1385	Cone–rod dystrophy	BBS5	NM_152384.2	c.92T>C c.92T>C	p.(Ile31Thr) p.(Ile31Thr)	Blind panel analysis	Affected brother has the variant heterozygous
3026	Macular dystrophy	BEST1	NM_001139443.1	c.1223C>T	p.(Pro408Leu)	Blind panel analysis	Unaffected mother has the variant
8732	Macular dystrophy	CRB1	NM_201253.2	c.1023T>A c.3713_3716dup	p.(Asn341Lys) p.(Cys1240fs)	Blind panel analysis	Affected sister carries both variants, affected brother doesn't carry any of the variants
6217	Retinitis pigmentosa	SNRNP200	NM_014014.4	c.4835C>T	p.(Thr1612Met)	Blind panel analysis	Unaffected father has the variant
8681	Cone–rod dystrophy	SNRNP200	NM_014014.4	c.5644C>A	p.(Pro1882Thr)	Blind panel analysis	Unaffected mother has the variant
9722	Macular dystrophy	TEAD1	NM_021961.5	c.59G>A	p.(Ser20Asn)	Blind panel analysis	Unaffected father has the variant
8239	Iris and choroid coloboma	TFAP2A	NM_003220.2	c.723del	p.(Glu242fs)	Exome analysis	Affected brother, unaffected mother and unaffected grandfather have the variant
1728	Benign concentric annular macular dystrophy	ZNF644	NM_201269.1	c.3031C>G	p.(Gln1011Glu)	Blind panel analysis	Affected father does not have the variant