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VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
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Genes:
ABCA4, ABCB5, ABCC6, ADAMTS18, AGBL1, ANGPTL7, BEST1, CHST6, COL12A1, COL17A1, COL2A1, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL5A1, COL5A2, COL6A1, CYP4V2, DIAPH1, DOCK9, GPR98, ITGB1, KERA, KRT13, KRT15, KRT16, KRT23, KRT24, KRT3, LRRN1, LTBP2, MAP3K19, MTOR, MYLK, NLRP1, OVOL2, PAX6, PIK3CG, PIK3R1, PIKFYVE, PTK2, PXDN, PXN, SFTPD, SHC1, SIX5, SLC4A11, TCF4, TGFBI, TLN1, WNT9A, WNT9B, ZEB1, ZNF469,

+ Genes associated with diseases 38

Genes at Omim

ABCA4, ABCC6, ADAMTS18, AGBL1, BEST1, CHST6, COL12A1, COL17A1, COL2A1, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL5A1, COL5A2, COL6A1, CYP4V2, DIAPH1, KERA, KRT13, KRT16, KRT3, LTBP2, MTOR, MYLK, NLRP1, OVOL2, PAX6, PIK3R1, PIKFYVE, PXDN, SIX5, SLC4A11, TCF4, TGFBI, ZEB1, ZNF469,

ABCA4	Fundus flavimaculatus, 248200 (3) {Macular degeneration, age-related, 2}, 153800 (3) Cone-rod dystrophy 3, 604116 (3) Retinal dystrophy, early-onset severe, 248200 (3) Retinitis pigmentosa 19, 601718 (3) Stargardt disease 1, 248200 (3)
ABCC6	Arterial calcification, generalized, of infancy, 2, 614473 (3) Pseudoxanthoma elasticum, 264800 (3) Pseudoxanthoma elasticum, forme fruste, 177850 (3)
ADAMTS18	Microcornea, myopic chorioretinal atrophy, and telecanthus, 615458 (3)
AGBL1	Corneal dystrophy, Fuchs endothelial, 8, 615523 (3)
BEST1	Bestrophinopathy, autosomal recessive, 611809 (3) Macular dystrophy, vitelliform, 2, 153700 (3) Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3) Retinitis pigmentosa, concentric, 613194 (3) Retinitis pigmentosa-50, 613194 (3) Vitreoretinochoroidopathy, 193220 (3)
CHST6	Macular corneal dystrophy, 217800 (3)
COL12A1	Bethlem myopathy 2, 616471 (3) ?Ullrich congenital muscular dystrophy 2, 616470 (3)
COL17A1	Epidermolysis bullosa, junctional, localisata variant, 226650 (3) Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3) Epithelial recurrent erosion dystrophy, 122400 (3)
COL2A1	Avascular necrosis of the femoral head, 608805 (3) Achondrogenesis, type II or hypochondrogenesis, 200610 (3) Czech dysplasia, 609162 (3) Legg-Calve-Perthes disease, 150600 (3) Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3) Kniest dysplasia, 156550 (3) Osteoarthritis with mild chondrodysplasia, 604864 (3) Platyspondylic skeletal dysplasia, Torrance type, 151210 (3) SED congenita, 183900 (3) SMED Strudwick type, 184250 (3) Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3) Spondyloperipheral dysplasia, 271700 (3) Stickler sydrome, type I, nonsyndromic ocular, 609508 (3) Stickler syndrome, type I, 108300 (3) Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)
COL4A1	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773 (3) {Hemorrhage, intracerebral, susceptibility to}, 614519 (3) Brain small vessel disease with or without ocular anomalies, 175780 (3) ?Retinal arteries, tortuosity of, 180000 (3) Schizencephaly, 269160 (3)
COL4A2	{Hemorrhage, intracerebral, susceptibility to}, 614519 (3) Brain small vessel disease 2, 614483 (3)
COL4A3	Alport syndrome 2, autosomal recessive, 203780 (3) Alport syndrome 3, autosomal dominant, 104200 (3) Hematuria, benign familial, 141200 (3)
COL4A4	Alport syndrome 2, autosomal recessive, 203780 (3) Hematuria, familial benign, 141200 (3)
COL4A5	Alport syndrome 1, X-linked, 301050 (3)
COL5A1	Ehlers-Danlos syndrome, classic type, 1, 130000 (3)
COL5A2	Ehlers-Danlos syndrome, classic type, 2, 130010 (3)
COL6A1	Bethlem myopathy 1, 158810 (3) Ullrich congenital muscular dystrophy 1, 254090 (3)
CYP4V2	Bietti crystalline corneoretinal dystrophy, 210370 (3)
DIAPH1	Deafness, autosomal dominant 1, 124900 (3) Seizures, cortical blindness, microcephaly syndrome, 616632 (3)
KERA	Cornea plana 2, autosomal recessive, 217300 (3)
KRT13	White sponge nevus 2, 615785 (3)
KRT16	Pachyonychia congenita 1, 167200 (3) Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3)
KRT3	Meesmann corneal dystrophy, 122100 (3)
LTBP2	Glaucoma 3, primary congenital, D, 613086 (3) Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3) ?Weill-Marchesani syndrome 3, recessive, 614819 (3)
MTOR	Focal cortical dysplasia, type II, somatic, 607341 (3) Smith-Kingsmore syndrome, 616638 (3)
MYLK	Aortic aneurysm, familial thoracic 7, 613780 (3)
NLRP1	Autoinflammation with arthritis and dyskeratosis, 617388 (3) {Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3) Palmoplantar carcinoma, multiple self-healing, 615225 (3)
OVOL2	Corneal dystrophy, posterior polymorphous, 1, 122000 (3)
PAX6	Foveal hypoplasia 1, 136520 (3) Aniridia, 106210 (3) Anterior segment dysgenesis 5, multiple subtypes, 604229 (3) Cataract with late-onset corneal dystrophy, 106210 (3) Keratitis, 148190 (3) Optic nerve hypoplasia, 165550 (3) ?Morning glory disc anomaly, 120430 (3) ?Coloboma of optic nerve, 120430 (3) ?Coloboma, ocular, 120200 (3)
PIK3R1	Immunodeficiency 36, 616005 (3) ?Agammaglobulinemia 7, autosomal recessive, 615214 (3) SHORT syndrome, 269880 (3)
PIKFYVE	Corneal fleck dystrophy, 121850 (3)
PXDN	Anterior segment dysgenesis 7, with sclerocornea, 269400 (3)
SIX5	Branchiootorenal syndrome 2, 610896 (3)
SLC4A11	Corneal dystrophy, Fuchs endothelial, 4, 613268 (3) Corneal endothelial dystrophy and perceptive deafness, 217400 (3) Corneal endothelial dystrophy, autosomal recessive, 217700 (3)
TCF4	Corneal dystrophy, Fuchs endothelial, 3, 613267 (3) Pitt-Hopkins syndrome, 610954 (3)
TGFBI	Corneal dystrophy, Avellino type, 607541 (3) Corneal dystrophy, Groenouw type I, 121900 (3) Corneal dystrophy, Reis-Bucklers type, 608470 (3) Corneal dystrophy, Thiel-Behnke type, 602082 (3) Corneal dystrophy, epithelial basement membrane, 121820 (3) Corneal dystrophy, lattice type I, 122200 (3) Corneal dystrophy, lattice type IIIA, 608471 (3)
ZEB1	Corneal dystrophy, Fuchs endothelial, 6, 613270 (3) Corneal dystrophy, posterior polymorphous, 3, 609141 (3)
ZNF469	Brittle cornea syndrome 1, 229200 (3)

Genes at Clinical Genomics Database

ABCA4	Cone-rod dystrophy 3 Retinitis pigmentosa 19 Stargardt disease 1 Retinal dystrophy, early-onset severe Fundus flavimaculatus
ABCC6	Pseudoxanthoma elasticum
ADAMTS18	Knobloch syndrome 2 Microcornea, myopic chorioretinal atrophy, and telecanthus Retinal dystrophy, early onset, autosomal recessive
AGBL1	Corneal dystrophy, Fuchs endothelial, 8
BEST1	Vitreoretinochoroidopathy Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
CHST6	Macular dystrophy, corneal, 1 Macular dystrophy, corneal, 2
COL12A1	Bethlem myopathy 2 Ullrich congenital muscular dystrophy 2
COL17A1	Epithelial recurrent erosion dystrophy (ERED) Epidermolysis bullosa, junctional, non-Herlitz type
COL2A1	Stickler syndrome, type I Rhegmatogenous retinal detachment, autosomal dominant Czech dysplasia Otospondylomegaepiphyseal dysplasia Epiphyseal dysplasia, multiple, with myopia and deafness Avascular necrosis of femoral head, primary
COL4A1	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps Brain small vessel disease with or without ocular anomalies Anterior segment dysgenesis with cerebral involvement Porencephaly 1 Retinal artery tortuosity Schizencephaly
COL4A2	Hemorrhage, intracerebral, susceptibility to
COL4A3	Alport syndrome, autosomal dominant Alport syndrome, autosomal recessive
COL4A4	Alport syndrome, autosomal recessive
COL4A5	Alport syndrome, X-linked
COL5A1	Ehlers-Danlos syndrome, type I Ehlers-Danlos syndrome, type II
COL5A2	Ehlers-Danlos syndrome, type I Ehlers-Danlos syndrome, type II
COL6A1	Ullrich congenital muscular dystrophy 1 Bethlem myopathy 1
CYP4V2	Bietti crystalline corneoretinal dystrophy Retinitis pigmentosa, autosomal recessive
DIAPH1	Deafness, autosomal dominant 1
KERA	Cornea plana 2, autosomal recessive
KRT13	White sponge nevus 2
KRT16	Palmoplantar keratoderma, nonepidermolytic, focal Pachyonychia congenita 1
KRT3	Meesmann corneal dystrophy
LTBP2	Glaucoma 3, primary congenital, D Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma Weill-Marchesani syndrome 3
MTOR	Smith-Kingsmore syndrome
MYLK	Aortic aneurysm, familial thoracic 7
NLRP1	Corneal intraepithelial dyskeratosis and ectodermal dysplasia
OVOL2	Corneal dystrophy, posterior polymorphous, 1
PAX6	Peters anomaly Cataract with late-onset corneal dystrophy Aniridia Aniridia, cerebellar ataxia, and mental retardation (Gillespie syndrome) Optic nerve hypoplasia Keratitis Foveal hypoplasia 1 Coloboma, ocular Morning glory disc anomaly
PIK3R1	Agammaglobulinemia 7, autosomal recessive
PIKFYVE	Corneal fleck dystrophy
PXDN	Corneal opacification with other ocular anomalies
SIX5	Branchiootorenal syndrome 2
SLC4A11	Cryohydrocytosis
TCF4	Corneal dystrophy, Fuchs endothelial, 3 Pitt-Hopkins syndrome
TGFBI	Corneal dystrophy, lattice type I Corneal dystrophy, lattice type IIIA Corneal dystrophy of Bowman layer, type I Corneal dystrophy, Avellino type Corneal dystrophy, Reis-Bucklers type Corneal dystrophy, Thiel-Behnke type Corneal dystrophy, Groenouw type I Corneal dystrophy, epithelial basement membrane
ZEB1	Corneal dystrophy, Fuchs endothelial 6 Corneal dystrophy, posterior polymorphous, 3
ZNF469	Brittle cornea syndrome 1

Genes at HGMD

Summary

Number of Variants: 740
Number of Genes: 56

Export to: CSV

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ABCA4
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	6306_s1	1	rs1801555 dbSNP Clinvar	94466659	100.0	A	G	PASS	1/1	38	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.30112	0.30110	0.29886				None None	None None None None	ABCA4\|0.440503373\|18.63%
	View	6306_s1	1	rs1801574 dbSNP Clinvar	94476388	87.0	C	G	PASS	0/1	20	SYNONYMOUS_CODING	LOW	None	0.20068	0.20070	0.24927				None None	None None None None	ABCA4\|0.440503373\|18.63%
	View	6306_s1	1	rs4147857 dbSNP Clinvar	94474328	100.0	T	C	PASS	0/1	52	SYNONYMOUS_CODING	LOW	None	0.18750	0.18750	0.20691				None None	None None None None	ABCA4\|0.440503373\|18.63%
	View	6306_s1	1	rs4847281 dbSNP Clinvar	94578548	100.0	T	C	PASS	1/1	10	SYNONYMOUS_CODING	LOW	None	0.98702	0.98700	0.01230				None None	None None None None	ABCA4\|0.440503373\|18.63%
	View	6306_s1	1	rs6657239 dbSNP Clinvar	94564483	100.0	C	T	PASS	0/1	42	NON_SYNONYMOUS_CODING	MODERATE	None	0.05331	0.05331	0.04644	0.04	0.98		None None	None None None None	ABCA4\|0.440503373\|18.63%
	View	6306_s1	1	rs2275029 dbSNP Clinvar	94473845	100.0	T	C	PASS	0/1	41	SYNONYMOUS_CODING	LOW	None	0.16713	0.16710	0.19968				None None	None None None None	ABCA4\|0.440503373\|18.63%
	View	6306_s1	1	rs1762114 dbSNP Clinvar	94471075	100.0	A	G	PASS	0/1	35	SYNONYMOUS_CODING	LOW	None	0.76997	0.77000	0.22428				None None	None None None None	ABCA4\|0.440503373\|18.63%
	View	6306_s1	1	rs6666652 dbSNP Clinvar	94461717	100.0	C	A	PASS	0/1	38	NON_SYNONYMOUS_CODING	MODERATE	None	0.17692	0.17690	0.19260	0.05	0.00		None None	None None None None	ABCA4\|0.440503373\|18.63%
	View	6306_s1	1	rs1801359 dbSNP Clinvar	94467447	100.0	G	A	PASS	0/1	53	SYNONYMOUS_CODING	LOW	None	0.13399	0.13400	0.14601				None None	None None None None	ABCA4\|0.440503373\|18.63%
ABCB5
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	6306_s1	7	rs140851914 dbSNP Clinvar	20666191	100.0	A	C	PASS	0/1	55	NON_SYNONYMOUS_CODING	MODERATE	None	0.00240	0.00240	0.00301	0.18	0.62		None None	None None None None	ABCB5\|0.12579132\|46.5%
	View	6306_s1	7	rs116568002 dbSNP Clinvar	20685450	100.0	G	A	PASS	0/1	76	SYNONYMOUS_CODING	LOW	None	0.00978	0.00978	0.00961				None None	None None None None	ABCB5\|0.12579132\|46.5%
	View	6306_s1	7	rs2893006 dbSNP Clinvar	20687181	100.0	C	T	PASS	0/1	48	SYNONYMOUS_CODING	LOW	None	0.21945	0.21940	0.25908				None None	None None None None	ABCB5\|0.12579132\|46.5%
	View	6306_s1	7	rs2301641 dbSNP Clinvar	20698270	100.0	A	G	PASS	1/1	20	NON_SYNONYMOUS_CODING	MODERATE	None	0.36382	0.36380	0.39997	1.00	0.00		None None	None None None None	ABCB5\|0.12579132\|46.5%
	View	6306_s1	7	rs115722120 dbSNP Clinvar	20725366	100.0	T	G	PASS	0/1	24	SYNONYMOUS_CODING	LOW	None	0.00359	0.00359	0.00469				None None	None None None None	ABCB5\|0.12579132\|46.5%
	View	6306_s1	7	rs17143304 dbSNP Clinvar	20767954	100.0	G	A	PASS	0/1	55	NON_SYNONYMOUS_CODING	MODERATE	None	0.07907	0.07907	0.07335	0.01	0.25		None None	None None None None	ABCB5\|0.12579132\|46.5%
	View	6306_s1	7	rs10254317 dbSNP Clinvar	20768013	100.0	G	A	PASS	1/1	55	SYNONYMOUS_CODING	LOW	None	0.59605	0.59600	0.47801				None None	None None None None	ABCB5\|0.12579132\|46.5%
ABCC6
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	6306_s1	16	rs12931472 dbSNP Clinvar	16281007	100.0	A	G	PASS	1/1	35	NON_SYNONYMOUS_CODING	MODERATE	None	0.33946	0.33950	0.46398	0.77	0.00		None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	6306_s1	16	rs61318127 dbSNP Clinvar	16281033	100.0	G	A	PASS	0/1	35	SYNONYMOUS_CODING	LOW	None	0.00539	0.00539	0.00839				None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	6306_s1	16	rs8058694 dbSNP Clinvar	16278863	100.0	G	T	PASS	0/1	29	NON_SYNONYMOUS_CODING	MODERATE	None	0.33267	0.33270	0.45306	0.59	0.00		None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	6306_s1	16	rs9940825 dbSNP Clinvar	16291971	100.0	C	T	PASS	0/1	58	SYNONYMOUS_CODING	LOW	None	0.23223	0.23220	0.30603				None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	6306_s1	16	rs9930886 dbSNP Clinvar	16291983	100.0	A	G	PASS	0/1	57	SYNONYMOUS_CODING	LOW	None	0.28275	0.28270	0.31330				None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	6306_s1	16	rs7500834 dbSNP Clinvar	16272670	100.0	T	C	PASS	1/1	90	SYNONYMOUS_CODING	LOW	None	0.96446	0.96450	0.03548				None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	6306_s1	16	rs59593133 dbSNP Clinvar	16276292	100.0	T	C	PASS	0/1	22	NON_SYNONYMOUS_CODING	MODERATE	None	0.02296	0.02296	0.02609	0.43	0.00		None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	6306_s1	16	rs6416668 dbSNP Clinvar	16271357	100.0	T	C	PASS	1/1	48	NON_SYNONYMOUS_CODING	MODERATE	None	0.96426	0.96430	0.03556	0.29	0.00		None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	6306_s1	16	rs60707953 dbSNP Clinvar	16259497	100.0	G	T	PASS	0/1	34	NON_SYNONYMOUS_CODING	MODERATE	None	0.00759	0.00759	0.00777	0.32	0.57		None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	6306_s1	16	rs59757815 dbSNP Clinvar	16276341	100.0	T	A	PASS	0/1	22	SYNONYMOUS_CODING	LOW	None	0.02296	0.02296	0.02609				None None	None None None None	ABCC6\|0.022547171\|72.9%
	View	6306_s1	16	rs8058696 dbSNP Clinvar	16278869	100.0	G	C	PASS	0/1	29	SYNONYMOUS_CODING	LOW	None	0.33267	0.33270	0.45306				None None	None None None None	ABCC6\|0.022547171\|72.9%
ADAMTS18
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	6306_s1	16	rs34899340 dbSNP Clinvar	77353929	100.0	C	T	PASS	0/1	70	SYNONYMOUS_CODING	LOW	None	0.00938	0.00939	0.00808				None None	None None None None	ADAMTS18\|0.112557021\|48.75%
	View	6306_s1	16	rs8059275 dbSNP Clinvar	77389956	100.0	A	G	PASS	1/1	47	SYNONYMOUS_CODING	LOW	None	0.88219	0.88220	0.12527				None None	None None None None	ADAMTS18\|0.112557021\|48.75%
	View	6306_s1	16	rs114794731 dbSNP Clinvar	77355073	100.0	G	A	PASS	0/1	30	SYNONYMOUS_CODING	LOW	None	0.00938	0.00939	0.00777				None None	None None None None	ADAMTS18\|0.112557021\|48.75%
	View	6306_s1	16	rs9930984 dbSNP Clinvar	77353973	100.0	G	T	PASS	0/1	70	NON_SYNONYMOUS_CODING	MODERATE	None	0.63498	0.63500	0.48561	0.12	0.00		None None	None None None None	ADAMTS18\|0.112557021\|48.75%
	View	6306_s1	16	rs114018664 dbSNP Clinvar	77334293	100.0	C	A	PASS	0/1	67	NON_SYNONYMOUS_CODING	MODERATE	None	0.00899	0.00899	0.01016	0.03	0.00		None None	None None None None	ADAMTS18\|0.112557021\|48.75%
AGBL1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	6306_s1	15	rs1353578 dbSNP Clinvar	86800209	100.0	C	T	PASS	1/1	27	SYNONYMOUS_CODING	LOW	None	0.53974	0.53970	0.35463				None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	6306_s1	15	rs1006030 dbSNP Clinvar	87531281	100.0	A	C	PASS	0/1	69	SYNONYMOUS_CODING	LOW	None	0.82069	0.82070	0.19396				None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	6306_s1	15	rs8028043 dbSNP Clinvar	87217613	100.0	A	G	PASS	1/1	33	NON_SYNONYMOUS_CODING	MODERATE	None	0.89217	0.89220	0.11030	1.00	0.00		None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	6306_s1	15	rs4362360 dbSNP Clinvar	86940622	100.0	T	C	PASS	1/1	69	SYNONYMOUS_CODING	LOW	None	0.74421	0.74420	0.39279				None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	6306_s1	15	rs11858435 dbSNP Clinvar	86814866	100.0	A	G	PASS	0/1	38	SYNONYMOUS_CODING	LOW	None	0.68211	0.68210	0.26808				None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	6306_s1	15	rs372859846 dbSNP Clinvar	86813175	100.0	G	A	PASS	0/1	24	NON_SYNONYMOUS_CODING	MODERATE	None	0.00020	0.00020	0.00016	0.11	0.03		None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	6306_s1	15	rs11856833 dbSNP Clinvar	86807884	100.0	A	C	PASS	0/1	38	SYNONYMOUS_CODING	LOW	None	0.13379	0.13380	0.17401				None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	6306_s1	15	rs11857527 dbSNP Clinvar	86807843	100.0	T	C	PASS	0/1	37	NON_SYNONYMOUS_CODING	MODERATE	None	0.13359	0.13360	0.16900	0.05	0.00		None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	6306_s1	15	rs10520618 dbSNP Clinvar	86807761	100.0	A	G	PASS	0/1	86	SYNONYMOUS_CODING	LOW	None	0.50539	0.50540	0.47409				None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	6306_s1	15	rs1566088 dbSNP Clinvar	86806029	100.0	C	T	PASS	1/1	39	SYNONYMOUS_CODING	LOW	None			0.30818				None None	None None None None	AGBL1\|0.082073978\|54.74%
ANGPTL7
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	6306_s1	1	rs2076658 dbSNP Clinvar	11255008	100.0	T	C	PASS	0/1	42	SYNONYMOUS_CODING	LOW	None	0.09844	0.09844	0.05105				None None	None None None None	MTOR\|0.997612705\|0.59%,ANGPTL7\|0.164614125\|40.97%
BEST1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	6306_s1	11	rs1800007 dbSNP Clinvar	61719387	100.0	T	C	PASS	1/1	37	None	None	None	0.68051	0.68050	0.44732				None None	None None None None	BEST1\|0.0975286\|51.61%
CHST6
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	6306_s1	16	rs79173362 dbSNP Clinvar	75512721	100.0	C	T	PASS	0/1	71	NON_SYNONYMOUS_CODING	MODERATE	None	0.00160	0.00160	0.00200	0.73	0.00		None None	None None None None	CHST6\|0.068807655\|57.77%
COL12A1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	6306_s1	6	rs79830915 dbSNP Clinvar	75848169	100.0	C	T	PASS	0/1	37	NON_SYNONYMOUS_CODING	MODERATE	None	0.02216	0.02216	0.01892	0.00	0.95		None None	None None None None	COL12A1\|0.494206072\|16.13%
	View	6306_s1	6	rs970547 dbSNP Clinvar	75797302	100.0	C	T	PASS	0/1	28	NON_SYNONYMOUS_CODING	MODERATE	None	0.71186	0.71190	0.25525	0.02	1.00		None None	None None None None	COL12A1\|0.494206072\|16.13%
	View	6306_s1	6	rs35429515 dbSNP Clinvar	75875434	100.0	A	G	PASS	0/1	34	SYNONYMOUS_CODING	LOW	None	0.02736	0.02736	0.02396				None None	None None None None	COL12A1\|0.494206072\|16.13%
	View	6306_s1	6	rs240736 dbSNP Clinvar	75848181	100.0	A	G	PASS	0/1	37	NON_SYNONYMOUS_CODING	MODERATE	None	0.26498	0.26500	0.29199	0.36	0.00		None None	None None None None	COL12A1\|0.494206072\|16.13%
	View	6306_s1	6	rs117038107 dbSNP Clinvar	75834860	100.0	G	A	PASS	0/1	42	NON_SYNONYMOUS_CODING	MODERATE	None	0.00359	0.00359	0.00897	0.63	0.01		None None	None None None None	COL12A1\|0.494206072\|16.13%
COL17A1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	6306_s1	10	rs805708 dbSNP Clinvar	105824333	100.0	G	A	PASS	0/1	48	NON_SYNONYMOUS_CODING	MODERATE	None	0.56490	0.56490	0.41489	0.00	0.89		None None	None None None None	COL17A1\|0.220252717\|34.39%
	View	6306_s1	10	rs805701 dbSNP Clinvar	105819956	100.0	G	A	PASS	0/1	28	SYNONYMOUS_CODING	LOW	None	0.55252	0.55250	0.44480				None None	None None None None	COL17A1\|0.220252717\|34.39%
	View	6306_s1	10	rs140197646 dbSNP Clinvar	105794512	58.0	T	C	PASS	0/1	19	SYNONYMOUS_CODING	LOW	None	0.00280	0.00280	0.00531				None None	None None None None	COL17A1\|0.220252717\|34.39%
	View	6306_s1	10	rs2476958 dbSNP Clinvar	105796819	100.0	A	G	PASS	0/1	47	SYNONYMOUS_CODING	LOW	None	0.98602	0.98600	0.01377				None None	None None None None	COL17A1\|0.220252717\|34.39%
	View	6306_s1	10	rs2274100 dbSNP Clinvar	105798872	100.0	T	C	PASS	0/1	55	SYNONYMOUS_CODING	LOW	None	0.68151	0.68150	0.27749				None None	None None None None	COL17A1\|0.220252717\|34.39%
	View	6306_s1	10	rs2296219 dbSNP Clinvar	105799216	100.0	G	T	PASS	1/1	11	SYNONYMOUS_CODING	LOW	None	0.68351	0.68350	0.28487				None None	None None None None	COL17A1\|0.220252717\|34.39%
	View	6306_s1	10	rs4918079 dbSNP Clinvar	105801253	100.0	G	A	PASS	0/1	28	SYNONYMOUS_CODING	LOW	None	0.67392	0.67390	0.28187				None None	None None None None	COL17A1\|0.220252717\|34.39%
	View	6306_s1	10	rs805722 dbSNP Clinvar	105810400	100.0	T	C	PASS	0/1	45	NON_SYNONYMOUS_CODING	MODERATE	None	0.69369	0.69370	0.28095	0.64	0.00		None None	None None None None	COL17A1\|0.220252717\|34.39%
	View	6306_s1	10	rs805698 dbSNP Clinvar	105816916	100.0	C	T	PASS	0/1	27	NON_SYNONYMOUS_CODING	MODERATE	None	0.81849	0.81850	0.15113	0.46	0.00		None None	None None None None	COL17A1\|0.220252717\|34.39%
COL2A1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	6306_s1	12	rs3737548 dbSNP Clinvar	48391416	100.0	G	T	PASS	0/1	50	SYNONYMOUS_CODING	LOW	None	0.21925	0.21920	0.20145				None None	None None None None	COL2A1\|0.956600158\|2.04%
	View	6306_s1	12	rs3803183 dbSNP Clinvar	48398080	100.0	T	A	PASS	1/1	37	NON_SYNONYMOUS_CODING	MODERATE	None	0.68530	0.68530	0.21085	0.18	0.00		None None	None None None None	COL2A1\|0.956600158\|2.04%
	View	6306_s1	12	rs2276454 dbSNP Clinvar	48376291	100.0	G	A	PASS	0/1	16	SYNONYMOUS_CODING	LOW	None	0.42971	0.42970	0.38682				None None	None None None None	COL2A1\|0.956600158\|2.04%
	View	6306_s1	12	rs1635553 dbSNP Clinvar	48375568	100.0	A	G	PASS	0/1	27	SYNONYMOUS_CODING	LOW	None	0.48283	0.48280	0.45279				None None	None None None None	COL2A1\|0.956600158\|2.04%
COL4A1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	6306_s1	13	rs874203 dbSNP Clinvar	110827574	100.0	T	A	PASS	0/1	56	SYNONYMOUS_CODING	LOW	None	0.31789	0.31790	0.33592				None None	None None None None	COL4A1\|0.224151486\|33.94%
	View	6306_s1	13	rs9515185 dbSNP Clinvar	110959356	100.0	C	G	PASS	0/1	37	NON_SYNONYMOUS_CODING	MODERATE	None	0.42412	0.42410			0.00		None None	None None None None	COL4A1\|0.224151486\|33.94%,COL4A2\|0.044971251\|64.22%
	View	6306_s1	13	rs141714960 dbSNP Clinvar	110815856	100.0	G	A	PASS	0/1	56	SYNONYMOUS_CODING	LOW	None	0.00559	0.00559	0.00554				None None	None None None None	COL4A1\|0.224151486\|33.94%
	View	6306_s1	13	rs536174 dbSNP Clinvar	110839550	100.0	T	G	PASS	1/1	64	NON_SYNONYMOUS_CODING	MODERATE	None	1.00000	1.00000			0.00		None None	None None None None	COL4A1\|0.224151486\|33.94%
	View	6306_s1	13	rs115834242 dbSNP Clinvar	110802779	100.0	C	T	PASS	0/1	25	SYNONYMOUS_CODING	LOW	None	0.00240	0.00240	0.00261				None None	None None None None	COL4A1\|0.224151486\|33.94%
	View	6306_s1	13	rs532625 dbSNP Clinvar	110864225	100.0	A	T	PASS	0/1	32	SYNONYMOUS_CODING	LOW	None	0.47284	0.47280	0.43957				None None	None None None None	COL4A1\|0.224151486\|33.94%
	View	6306_s1	13	rs16975492 dbSNP Clinvar	110833702	100.0	C	T	PASS	0/1	35	SYNONYMOUS_CODING	LOW	None	0.30711	0.30710	0.32162				None None	None None None None	COL4A1\|0.224151486\|33.94%
	View	6306_s1	13	rs874204 dbSNP Clinvar	110827580	100.0	C	T	PASS	0/1	56	SYNONYMOUS_CODING	LOW	None	0.31809	0.31810	0.33592				None None	None None None None	COL4A1\|0.224151486\|33.94%
COL4A2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	6306_s1	13	rs445348 dbSNP Clinvar	111158874	100.0	A	G	PASS	0/1	30	SYNONYMOUS_CODING	LOW	None	0.75200	0.75200	0.12908				None None	None None None None	COL4A2\|0.044971251\|64.22%
	View	6306_s1	13	rs4238272 dbSNP Clinvar	111077197	100.0	G	A	PASS	1/1	37	SYNONYMOUS_CODING	LOW	None	0.94269	0.94270	0.06729				None None	None None None None	COL4A2\|0.044971251\|64.22%
	View	6306_s1	13	rs144319016 dbSNP Clinvar	111088621	100.0	C	T	PASS	0/1	67	SYNONYMOUS_CODING	LOW	None	0.00659	0.00659	0.00805				None None	None None None None	COL4A2\|0.044971251\|64.22%
	View	6306_s1	13	rs4103 dbSNP Clinvar	111098226	100.0	C	T	PASS	0/1	42	SYNONYMOUS_CODING	LOW	None	0.48283	0.48280	0.48987				None None	None None None None	COL4A2\|0.044971251\|64.22%
	View	6306_s1	13	rs439831 dbSNP Clinvar	111154058	100.0	T	A	PASS	0/1	60	SYNONYMOUS_CODING	LOW	None	0.93950	0.93950	0.05156				None None	None None None None	COL4A2\|0.044971251\|64.22%
	View	6306_s1	13	rs409858 dbSNP Clinvar	111154061	100.0	T	C	PASS	0/1	60	SYNONYMOUS_CODING	LOW	None	0.93950	0.93950	0.05167				None None	None None None None	COL4A2\|0.044971251\|64.22%
	View	6306_s1	13	rs438758 dbSNP Clinvar	111155773	100.0	T	C	PASS	1/1	29	SYNONYMOUS_CODING	LOW	None	0.98023	0.98020	0.01286				None None	None None None None	COL4A2\|0.044971251\|64.22%
	View	6306_s1	13	rs4771683 dbSNP Clinvar	111156499	100.0	C	T	PASS	0/1	27	SYNONYMOUS_CODING	LOW	None	0.93590	0.93590	0.05438				None None	None None None None	COL4A2\|0.044971251\|64.22%
COL4A3
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	6306_s1	2	rs10178458 dbSNP Clinvar	228111435	100.0	T	C	PASS	0/1	46	NON_SYNONYMOUS_CODING	MODERATE	None	0.79673	0.79670	0.22958	1.00	0.01		None None	None None None None	COL4A3\|0.119573089\|47.51%
	View	6306_s1	2	rs13424243 dbSNP Clinvar	228102723	100.0	G	C	PASS	0/1	36	NON_SYNONYMOUS_CODING	MODERATE	None	0.23023	0.23020	0.35109	0.02	0.99		None None	None None None None	COL4A3\|0.119573089\|47.51%
	View	6306_s1	2	rs10205042 dbSNP Clinvar	228128540	100.0	C	T	PASS	0/1	88	SYNONYMOUS_CODING	LOW	None	0.76757	0.76760	0.28196				None None	None None None None	COL4A3\|0.119573089\|47.51%
	View	6306_s1	2	rs6436669 dbSNP Clinvar	228113175	100.0	A	G	PASS	0/1	109	NON_SYNONYMOUS_CODING	MODERATE	None	0.79633	0.79630	0.22987	1.00	0.01		None None	None None None None	COL4A3\|0.119573089\|47.51%
COL4A4
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	6306_s1	2	rs2228557 dbSNP Clinvar	227872182	100.0	G	A	PASS	0/1	78	SYNONYMOUS_CODING	LOW	None	0.51438	0.51440	0.46041				None None	None None None None	COL4A4\|0.099677436\|51.24%
	View	6306_s1	2	rs2228555 dbSNP Clinvar	227872995	100.0	T	C	PASS	1/1	59	SYNONYMOUS_CODING	LOW	None	0.64058	0.64060	0.41430				None None	None None None None	COL4A4\|0.099677436\|51.24%
	View	6306_s1	2	rs1800516 dbSNP Clinvar	227946893	100.0	C	G	PASS	0/1	30	NON_SYNONYMOUS_CODING	MODERATE	None	0.02057	0.02057	0.03470	0.01	1.00		None None	None None None None	COL4A4\|0.099677436\|51.24%
	View	6306_s1	2	rs2229814 dbSNP Clinvar	227954599	100.0	G	A	PASS	1/1	38	NON_SYNONYMOUS_CODING	MODERATE	None	0.54852	0.54850	0.49096	0.87	0.00		None None	None None None None	COL4A4\|0.099677436\|51.24%
	View	6306_s1	2	rs2229813 dbSNP Clinvar	227892720	100.0	C	T	PASS	0/1	65	NON_SYNONYMOUS_CODING	MODERATE	None	0.49301	0.49300	0.45483	1.00	0.00		None None	None None None None	COL4A4\|0.099677436\|51.24%
	View	6306_s1	2	rs3752895 dbSNP Clinvar	227886773	100.0	A	G	PASS	0/1	44	NON_SYNONYMOUS_CODING	MODERATE	None	0.52616	0.52620	0.47825	0.95	0.00		None None	None None None None	COL4A4\|0.099677436\|51.24%
	View	6306_s1	2	rs2228556 dbSNP Clinvar	227892619	100.0	C	T	PASS	0/1	76	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.49181	0.49180	0.45464				None None	None None None None	COL4A4\|0.099677436\|51.24%
	View	6306_s1	2	rs2229812 dbSNP Clinvar	227896886	100.0	C	T	PASS	0/1	32	SYNONYMOUS_CODING	LOW	None	0.49561	0.49560	0.45256				None None	None None None None	COL4A4\|0.099677436\|51.24%
	View	6306_s1	2	rs10203363 dbSNP Clinvar	227896976	100.0	C	T	PASS	0/1	32	SYNONYMOUS_CODING	LOW	None	0.49501	0.49500	0.45120				None None	None None None None	COL4A4\|0.099677436\|51.24%
	View	6306_s1	2	rs1800517 dbSNP Clinvar	227915832	100.0	G	A	PASS	1/1	50	NON_SYNONYMOUS_CODING	MODERATE	None	0.54732	0.54730	0.48141	0.01	0.20		None None	None None None None	COL4A4\|0.099677436\|51.24%
COL4A5
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	6306_s1	X	rs3747408 dbSNP Clinvar	107850076	100.0	G	A	PASS	1/1	27	SYNONYMOUS_CODING	LOW	None	0.14887	0.14890	0.12184				None None	None None None None	COL4A5\|0.684108995\|8.97%
	View	6306_s1	X	rs2272945 dbSNP Clinvar	107829907	100.0	G	C	PASS	1/1	19	SYNONYMOUS_CODING	LOW	None	0.15046	0.15050	0.12449				None None	None None None None	COL4A5\|0.684108995\|8.97%
	View	6306_s1	X	rs142929745 dbSNP Clinvar	107868941	100.0	A	G	PASS	1/1	20	NON_SYNONYMOUS_CODING	MODERATE	None	0.00053	0.00053	0.00047	0.02	0.38		None None	None None None None	COL4A5\|0.684108995\|8.97%
	View	6306_s1	X	rs2273051 dbSNP Clinvar	107909784	100.0	A	G	PASS	1/1	26	SYNONYMOUS_CODING	LOW	None	0.17801	0.17800	0.16056				None None	None None None None	COL4A5\|0.684108995\|8.97%
	View	6306_s1	X	rs61746140 dbSNP Clinvar	107929337	100.0	C	T	PASS	1/1	28	SYNONYMOUS_CODING	LOW	None							None None	None None None None	COL4A5\|0.684108995\|8.97%
	View	6306_s1	X	rs7884085 dbSNP Clinvar	107845128	100.0	T	C	PASS	1/1	44	SYNONYMOUS_CODING	LOW	None	0.14993	0.14990	0.11964				None None	None None None None	COL4A5\|0.684108995\|8.97%
	View	6306_s1	X	rs2272946 dbSNP Clinvar	107834453	100.0	T	G	PASS	1/1	11	NON_SYNONYMOUS_CODING	MODERATE	None	0.14940	0.14940	0.12157	0.61	0.01		None None	None None None None	COL4A5\|0.684108995\|8.97%

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Summary

ABCA4

ABCB5

ABCC6

ADAMTS18

AGBL1

ANGPTL7

BEST1

CHST6

COL12A1

COL17A1

COL2A1

COL4A1

COL4A2

COL4A3

COL4A4

COL4A5

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