Table 2. 23 remaining variants.

Chromosome	Genomic coordinates	Reference allele	Alternate allele	Consequence	Gene Symbol	Gene Full Name	Human Orthologue	Present in DBVDC	Base change	Amino acid change	CDS Position	Protein Position
8	33957623	A	C	missense_variant	DACT1	Dishevelled Binding Antagonist of Beta Catenin 1	DACT1	Yes	gAg/gCg	E/A	1700	567
25	35087169	C	G	missense_variant	BMP1	Bone Morphogenetic Protein 1	BMP1	Yes	gaG/gaC	E/D	114	38
26	9447613	TA	T,TTCTTCTGGTAAA,TTCTTCTGGTAA	frameshift_variant	ENSCAFG00000008764		None	Yes	Atc/tc	I/X	1549	517
38	21369593	G	GT	frameshift_variant	KLHDC9	kelch domain containing 9	KLHDC9	No	-/A	-/X	735–736	245–246
31	39447278	G	A	missense_variant	COL6A2	Collagen Type IX Alpha 2 Chain	COL6A2	Yes	aGa/aAt	S/N	2495	832
17	20301410	G	GC	frameshift_variant	GAREM2	Grb2-associated regulator of Erk/MAPK1	GAREM2	No	ggg/ggCg	G/GX	620–621	207
18	32393127	CGCCGCCTCCAGCCACGCGGCCGCCTGCGCCTCCGAGAAGCCGCGGGGCACCCGCTCCTCCAG	C	frameshift_variant	FJX1	Four Jointed Box Kinase 1	FJX1	No	CTGGAGGAGCGGGTGCCCCGCGGCTTCTCGGAGGCGCAGGCGGCCGCGTGGCTGGAGGCGGCg/g	LEERVPRGFSEAQAAAWLEAA/X	199–260	67–87
6	8811462	ATCTGCTCGTATCTGGAGATGCTGTTAGAGTGCTGG	*,GTCTGCTCGTATCTGGAGATGCTGTTAGAGTGCTGG	missense_variant	ENSCAFG00000014044		None	Yes	aCCAGCACTCTAACAGCATCTCCAGATACGAGCAGATcc/aCCAGCACTCTAACAGCATCTCCAGATACGAGCAGACcc	TSTLTASPDTSRS/TSTLTASPDTSRP	7454–7489	2485–2497
12	52207701	GAAAGAAAGAAAGAAAA	*,GAAAGAAGAAAAAGAAAGAAAGAAAA,G,GAAAAGAAAGAAAGAAAA,GAAGAAAGAAAGAAAA	inframe_insertion+frameshift_variant	ENSCAFG00000030881+ENSCAFG00000030881		None	Yes	tTTTTCTTTCTTTCTTTc/tTTTTCTTTCTTTCTTTTTCTTCTTTc tTTTTCTTTCTTTCTTTc/tc	FFFLSF/FFFLSFSSF FFFLSF/X	203–218+203–218	68–73+68–73
1	77496026	CTTTCTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CTCTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT,C,*,CTTTTTTCTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	splice_acceptor_variant&intron_variant&non_coding_transcript_variant	ENSCAFG00000034426		None	Yes
6	55325921	AAG	*,A	splice_acceptor_variant&intron_variant	ENSCAFG00000032258		None	Yes
6	54025399	G	GAAA,GA,A,*,GAAAA,GAAAGAAAA	inframe_insertion+frameshift_variant+missense_variant	ENSCAFG00000029585+ENSCAFG00000029585+ENSCAFG00000029585		None	Yes	aGg/aGAAAg aGg/aGAg aGg/aAg	R/RK R/RX R/K	77+77+77	26+26+26
16	12395809	A	G,*	missense_variant	ENSCAFG00000031012		None	Yes	aAa/aGa	K/R	422	141
1	77496030	CTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C,*,CTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT,CTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT,CTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	splice_acceptor_variant&intron_variant&non_coding_transcript_variant	ENSCAFG00000034426		None	Yes
11	54593727	C	G	missense_variant	ENSCAFG00000031828		None	No	Gac/Cac	D/H	148	50
21	4789963	T	G	missense_variant	CCDC82	Coiled-coil Domain Containing 82	CCDC82	Yes	gaT/gaG	D/E	171	57
25	44173062	G	A	missense_variant	CHRND	Cholinergic Receptor Nicotinic Delta Subunit	CHRND	No	cGc/cAc	R/H	1400	467
34	19179708	G	A	missense_variant	TBCCD1	TBCC Domain Containing 1	TBCCD1	No	aCg/aTg	T/M	167	56
39	1615231	G	A	missense_variant&splice_region_variant	ARSF	Arylsulfatase F	ARSF	No	aGg/aAg	R/K	161	54
39	37950668	G	GC	frameshift_variant	NDP	Norrin Cystine Knot Growth Factor	NDP	No	ggc/ggGc	G/GX	338–339	113
6	55887792	C	G	missense_variant	CCDC18	Coiled-Coil Domain Containing 18	CCDC18	Yes	atG/atC	M/I	1230	410
7	9830091	C	A	missense_variant	TRAF5	TNF Receptor Associated Factor 5	TRAF5	No	Caa/Aaa	Q/K	1003	335
9	59422620	G	A	missense_variant	DENND1A	DENN Domain Containing 1A	DENND1A	No	cGc/cAc	R/H	2279	760

Two remaining variants FJX1 and NDP involved in retinal development highlighted in blue.