Molecular Vision: Wawrocka, Mol Vis 2018; 24:326-339. Table 2

Table 2. Variants identified in CRD patients together with the analyses performed.

Family no.	Analysis				Gene	Variant classification	Genotype	Reference
Family no.	*RPGR-ORF15* sequencing	SNP microarray of ABCA4	NGS RD panel	WES	Gene	Variant classification	Genotype	Reference
Dominant inheritance
9	-	-	+	-	PRPH2	c.592A>C, p.(Ser198Arg; pathogenic II)	heterozygous	[a]
18	-	-	+	-	GUCA1A	c.312C>A, p.(Asn104Lys)	heterozygous	Jiang et al., 2008
Recessive inheritance
5	-	+	+	-	PROM1	c.1612delT, p.(Trp538Glyfs15; pathogenic Ia) c.2389dupG, p.(Ile798Hisfs20; pathogenic Ia)	heterozygous heterozygous	[a] [a]
12	-	+	+	-	CNGB3	c.819_826del8, p.(Arg274Valfs*13) gnomAD browser prevalence: 0.0001185	homozygous	Sundin et al. 2000
17	-	+	+	+	ATF6	c.1691A>G, p.(Asp564Gly; pathogenic II)	homozygous	[Skorczyk-Werner et al., 2017] ¹
Recessive inheritance – single mutation identified
3	-	+	+	-	ABCA4	c.5882G>A, p.(Gly1961Glu) gnomAD browser prevalence: 0.003931	heterozygous	Allikmets et al. 1997
6	-	+	+	-	CNGB3	c.1148delC, p.(Thr383Ilefs*13) gnomAD browser prevalence: 0.002810	heterozygous	Sundin et al. 2000
X – linked inheritance
13	+	-	-	-	RPGR -ORF15	c.3142_3143dupAA, p.(Glu1049Argfs*41; pathogenic Ic)	hemizygous	[a]
7	+	-	-	-	RPGR -ORF15	c.2716G>T, p.(Glu906*)	hemizygous	Sharon et al. 2003

[a] – this study; ¹– identified in this study, but already published; ; + molecular analysis was performed, - molecular analysis was not performed; Variants designation is based on NM_000322 for PRPH2, NM_001319061 for GUCA1A,NM_006017 for PROM1,NM_019098 for CNGB3,NM_007348 for ATF6,NM_000350 for ABCA4 and NM_001331041 for RPGR-ORF15 (GRCh38). Classification of novel variants according to American College of Medical Genetics and Genomics (ACMG) guidelines. The gnomAD browser prevalences are provided for mutated alleles in non-Finnish Europeans.