Variants with conflicting interpretations studied for Inborn genetic diseases

Minimum review status of the submission for Inborn genetic diseases:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission for Inborn genetic diseases:	clinical testing curation literature only research other
Minimum review status of the other submission:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the other submission:	clinical testing curation literature only research other
Minimum conflict level: confidence conflict (e.g. benign vs likely benign) benign or likely benign vs uncertain conflict category conflict (e.g. benign vs affects) clinically significant conflict (e.g. benign vs pathogenic) Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version: 2025-03-05

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
202576	3984	0	245	1017	1	43	1299

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

	All conditions
Inborn genetic diseases		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	association
	pathogenic	0	17	3	0	0	0
	likely pathogenic	21	0	4	0	0	0
	uncertain significance	7	30	0	477	173	0
	likely benign	0	0	357	0	167	0
	benign	0	0	11	40	0	1

Condition to condition summary #

Condition	Variants with only 1 submission per condition	Variants with at least 2 submissions on the same condition and no conflicts	Variants with a synonymous conflict (e.g. benign vs non-pathogenic)	Variants with a confidence conflict (e.g. benign vs likely benign)	Variants with a benign or likely benign vs uncertain conflict	Variants with a category conflict (e.g. benign vs affects)	Variants with a clinically significant conflict (e.g. benign vs pathogenic)	Variants with any conflict
Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV	0	121	0	16	179	0	0	195
Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E	0	115	0	41	70	0	0	107
Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2	0	81	0	0	77	0	1	78
Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	0	93	0	4	67	0	0	70
Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3	0	67	0	16	43	0	0	57
Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78	0	127	0	19	37	0	0	56
Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3	0	430	0	23	29	0	1	53
Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C	0	146	0	10	36	0	2	48
Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome	0	103	0	22	21	0	0	43
Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency	0	279	0	6	24	0	1	31
Acroosteolysis-keloid-like lesions-premature aging syndrome; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome	0	18	0	6	21	0	1	28
Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign	0	67	0	0	28	0	0	28
Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1	0	46	0	10	10	0	0	20
Floating-Harbor syndrome; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities	0	29	0	0	18	0	0	18
Channelopathy-associated congenital insensitivity to pain, autosomal recessive	0	25	0	0	17	0	0	17
Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant	0	49	0	7	10	0	0	17
Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71	0	86	0	3	14	0	0	17
Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	0	56	0	2	14	0	0	16
Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type	0	36	0	0	15	0	0	15
Blau syndrome; Regional enteritis	0	27	0	1	12	0	0	13
Imerslund-Grasbeck syndrome type 1	0	26	0	1	12	0	0	13
Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease	0	12	0	1	11	0	1	13
Multiple gastrointestinal atresias	0	61	0	0	11	0	0	11
Autosomal dominant Alport syndrome; Hematuria, benign familial, 2; Alport syndrome 3b, autosomal recessive	0	10	0	1	4	0	4	9
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome	0	21	0	1	8	0	0	9
Isolated cryptophthalmia; Fraser syndrome 2	0	82	0	0	9	0	0	9
Autosomal recessive Alport syndrome; Hematuria, benign familial, 1	0	15	0	2	1	0	5	8
Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis	0	113	0	1	6	0	1	8
Lower motor neuron syndrome with late-adult onset; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Autosomal dominant mitochondrial myopathy with exercise intolerance	0	15	0	3	4	0	1	8
Type A2 brachydactyly; Acromesomelic dysplasia 3	0	13	0	0	8	0	0	8
Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V	0	21	0	2	3	0	2	7
Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E	0	40	0	4	2	0	1	7
Androgen resistance syndrome; Kennedy disease	0	3	0	2	3	0	1	6
Congenital generalized lipodystrophy type 2; Hereditary spastic paraplegia 17; Severe neurodegenerative syndrome with lipodystrophy; Neuronopathy, distal hereditary motor, type 5C	0	15	0	0	5	0	1	6
Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17	0	16	0	0	6	0	0	6
Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2	0	5	0	0	5	0	0	5
Diamond-Blackfan anemia; GATA binding protein 1 related thrombocytopenia with dyserythropoiesis	0	5	0	0	5	0	0	5
Fanconi anemia complementation group B; VACTERL association, X-linked, with or without hydrocephalus	0	1	0	1	4	0	0	5
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset	0	20	0	1	4	0	0	5
Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L	0	21	0	0	4	0	1	5
Hypothyroidism, congenital, nongoitrous, 2	0	2	0	0	5	0	0	5
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2	0	4	0	0	5	0	0	5
Spermatogenic failure 28; Premature ovarian failure 15	0	54	0	0	5	0	0	5
Usher syndrome type 2A; Retinitis pigmentosa 39	0	12	0	1	2	0	2	5
Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2	0	73	0	0	5	0	0	5
X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome	0	12	0	0	5	0	0	5
Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17	0	71	0	0	4	0	0	4
DPAGT1-congenital disorder of glycosylation; Congenital myasthenic syndrome 13	0	11	0	0	3	0	1	4
Heart defect - tongue hamartoma - polysyndactyly syndrome; Bardet-Biedl syndrome 15	0	14	0	0	4	0	0	4
Microphthalmia with brain and digit anomalies; Orofacial cleft 11	0	11	0	0	4	0	0	4
Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73	0	27	0	1	2	0	1	4
Oculotrichoanal syndrome; BNAR syndrome; Trigonocephaly 2	0	67	0	0	4	0	0	4
Sengers syndrome; Cataract 38	0	12	0	0	4	0	0	4
Arthrogryposis, renal dysfunction, and cholestasis 1; Keratoderma-ichthyosis-deafness syndrome, autosomal recessive; Cholestasis, progressive familial intrahepatic, 12	0	6	0	2	0	0	1	3
Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2	0	37	0	0	3	0	0	3
Cataract 21 multiple types; Ayme-Gripp syndrome	0	4	0	1	2	0	0	3
Chronic infantile neurological, cutaneous and articular syndrome; Keratitis fugax hereditaria; Familial amyloid nephropathy with urticaria AND deafness; Familial cold autoinflammatory syndrome 1; Hearing loss, autosomal dominant 34, with or without inflammation	0	9	0	0	3	0	0	3
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5; Myoclonus, familial, 2	0	5	0	2	1	0	0	3
Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4	0	29	0	0	3	0	0	3
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1	0	13	0	0	3	0	0	3
Harel-Yoon syndrome; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	0	2	0	0	2	0	1	3
Monosomy 7 myelodysplasia and leukemia syndrome 1; Ataxia-pancytopenia syndrome; Spinocerebellar ataxia 49	0	2	0	0	3	0	0	3
Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1	0	3	0	3	0	0	0	3
Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1	0	25	0	0	3	0	0	3
Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20	0	62	0	0	3	0	0	3
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7; Immunodeficiency 95	0	4	0	1	2	0	0	3
Spastic paraplegia, intellectual disability, nystagmus, and obesity; Ventriculomegaly and arthrogryposis	0	1	0	0	3	0	0	3
Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3	0	3	0	1	1	0	0	2
Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72	0	30	0	0	2	0	0	2
Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis	0	10	0	0	2	0	0	2
Brachydactyly type B1; Autosomal recessive Robinow syndrome	0	34	0	0	2	0	0	2
Brachyrachia (short spine dysplasia); Familial digital arthropathy-brachydactyly; Metatropic dysplasia; Parastremmatic dwarfism; Spondylometaphyseal dysplasia, Kozlowski type; Spondyloepimetaphyseal dysplasia, Maroteaux type; Neuronopathy, distal hereditary motor, autosomal dominant 8; Scapuloperoneal spinal muscular atrophy; Sodium serum level quantitative trait locus 1; Charcot-Marie-Tooth disease axonal type 2C; Avascular necrosis of femoral head, primary, 2	0	3	0	0	2	0	0	2
Bronchiectasis with or without elevated sweat chloride 1; Liddle syndrome 1; Pseudohypoaldosteronism, type IB2, autosomal recessive	0	11	0	0	2	0	0	2
Congenital dyserythropoietic anemia, type II; Cowden syndrome 7	0	8	0	0	2	0	0	2
Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects	0	8	0	2	0	0	0	2
DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2	0	3	0	1	0	0	1	2
Developmental and epileptic encephalopathy 91; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	0	1	0	1	1	0	0	2
Duane-radial ray syndrome; Oculootoradial syndrome	0	10	0	0	2	0	0	2
GNE myopathy; Sialuria	0	6	0	0	2	0	0	2
Hereditary hyperferritinemia with congenital cataracts; Neuroferritinopathy	0	1	0	0	2	0	0	2
Heterotopia, periventricular, X-linked dominant; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia	0	1	0	0	2	0	0	2
Hypersulfaturia; Nephrolithiasis susceptibility caused by SLC26A1	0	37	0	0	2	0	0	2
Inborn genetic diseases	207853	4	0	0	1	0	1	2
Joubert syndrome 25; Intellectual developmental disorder, autosomal recessive 77	0	0	0	0	2	0	0	2
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Autosomal dominant nonsyndromic hearing loss 17	0	22	0	0	2	0	0	2
McCune-Albright syndrome; Pseudohypoparathyroidism type 1C; Pseudohypoparathyroidism type 1B; Pseudopseudohypoparathyroidism; Progressive osseous heteroplasia; Pituitary adenoma 3, multiple types; ACTH-independent macronodular adrenal hyperplasia 1; Pseudohypoparathyroidism type I A	0	4	0	1	1	0	0	2
Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93	0	35	0	1	1	0	0	2
Nail-patella syndrome; Nail-patella-like renal disease	0	3	0	0	2	0	0	2
Nance-Horan syndrome; Cataract 40	0	0	0	1	1	0	0	2
Nemaline myopathy 2; Arthrogryposis multiplex congenita 6	0	12	0	2	0	0	0	2
Nicolaides-Baraitser syndrome; Blepharophimosis-impaired intellectual development syndrome	0	7	0	1	1	0	0	2
Pancreatic cancer, susceptibility to, 1	0	1	0	0	2	0	0	2
Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16; Congenital myopathy 22A, classic; Congenital myopathy 22B, severe fetal	0	28	0	1	0	0	1	2
Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates	0	28	0	0	2	0	0	2
Usher syndrome type 2C; Febrile seizures, familial, 4	0	17	0	0	2	0	0	2
3-methylglutaconic aciduria, type VIIB; Neutropenia, severe congenital, 9, autosomal dominant; 3-methylglutaconic aciduria, type VIIA	0	1	0	1	0	0	0	1
ALG8 congenital disorder of glycosylation; Polycystic liver disease 3 with or without kidney cysts	0	10	0	1	0	0	0	1
Age related macular degeneration 9; Atypical hemolytic-uremic syndrome with C3 anomaly; Complement component 3 deficiency	0	11	0	0	1	0	0	1
Alternating hemiplegia of childhood 1; Migraine, familial hemiplegic, 2; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies; Developmental and epileptic encephalopathy 98	0	0	0	1	0	0	0	1
Autosomal dominant Alport syndrome; Autosomal recessive Alport syndrome; Benign familial hematuria	0	4	0	0	0	0	1	1
Autosomal recessive Alport syndrome; Benign familial hematuria	0	3	0	0	1	0	0	1
Autosomal recessive nonsyndromic hearing loss 53; Autosomal dominant nonsyndromic hearing loss 13; Otospondylomegaepiphyseal dysplasia, autosomal recessive; Otospondylomegaepiphyseal dysplasia, autosomal dominant; Fibrochondrogenesis 2	0	1	0	0	0	0	1	1
Axenfeld-Rieger syndrome type 1; Anterior segment dysgenesis 4	0	2	0	1	0	0	0	1
BLOOD GROUP--LUTHERAN INHIBITOR; Congenital dyserythropoietic anemia type 4; FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6	0	0	0	0	1	0	0	1
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1	0	4	0	1	0	0	0	1
Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Exudative vitreoretinopathy 1; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Osteoporosis; Polycystic liver disease 4 with or without kidney cysts	0	22	0	0	1	0	0	1
Bone mineral density quantitative trait locus 1; Exudative vitreoretinopathy 4; Worth disease; Autosomal dominant osteopetrosis 1; Osteoporosis with pseudoglioma; Polycystic liver disease 4 with or without kidney cysts	0	14	0	0	1	0	0	1
Branchiootic syndrome 1; Branchiootorenal syndrome 1; Otofaciocervical syndrome 1	0	2	0	0	1	0	0	1
Branchiootic syndrome 3; Autosomal dominant nonsyndromic hearing loss 23	0	2	0	0	1	0	0	1
Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation	0	2	0	1	0	0	0	1
Bruck syndrome 1	0	1	0	0	1	0	0	1
COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; Bardet-Biedl syndrome 14; Nephronophthisis 11	0	1	0	1	0	0	0	1
Charcot-Marie-Tooth disease dominant intermediate B; Autosomal dominant centronuclear myopathy; Fetal akinesia-cerebral and retinal hemorrhage syndrome	0	1	0	0	1	0	0	1
Charcot-Marie-Tooth disease type 2I; Charcot-Marie-Tooth disease type 2J; Charcot-Marie-Tooth disease type 1B; Charcot-Marie-Tooth disease dominant intermediate D; Roussy-Lévy syndrome; Dejerine-Sottas disease; Charcot-Marie-Tooth disease type 4E	0	1	0	0	1	0	0	1
Cognitive impairment with or without cerebellar ataxia; Developmental and epileptic encephalopathy, 13; Seizures, benign familial infantile, 5	0	2	0	0	1	0	0	1
Combined oxidative phosphorylation defect type 24; Hearing loss, autosomal recessive 94	0	2	0	0	1	0	0	1
Complement component C1s deficiency; Ehlers-Danlos syndrome, periodontal type 2	0	0	0	0	1	0	0	1
Congenital absence of salivary gland; Lacrimoauriculodentodigital syndrome 3	0	0	0	0	1	0	0	1
Deeah syndrome; Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia	0	0	0	0	1	0	0	1
Dentatorubral-pallidoluysian atrophy; Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	0	0	0	0	1	0	0	1
Developmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related; Corpus callosum agenesis-abnormal genitalia syndrome; X-linked lissencephaly with abnormal genitalia; Partington syndrome	0	4	0	0	1	0	0	1
Developmental delay with or without dysmorphic facies and autism; Hearing loss, autosomal dominant 75	0	0	0	1	0	0	0	1
Ehlers-Danlos syndrome due to tenascin-X deficiency; Vesicoureteral reflux 8	0	0	0	1	0	0	0	1
Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7	0	19	0	0	1	0	0	1
Epiphyseal dysplasia, multiple, 3; Intervertebral disc disorder	0	2	0	0	1	0	0	1
Epiphyseal dysplasia, multiple, 3; Intervertebral disc disorder; Stickler syndrome, IIa 6	0	1	0	0	1	0	0	1
Epithelial recurrent erosion dystrophy; Epidermolysis bullosa, junctional 4, intermediate	0	1	0	1	0	0	0	1
Exostoses, multiple, type 2; Seizures-scoliosis-macrocephaly syndrome	0	3	0	1	0	0	0	1
Familial atrioventricular septal defect; Pulmonary atresia with ventricular septal defect; Visceral heterotaxy; Single Ventricle Defect	0	0	0	0	0	1	0	1
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3; Nephrotic syndrome, type 21	0	0	0	0	1	0	0	1
Glaucoma 3, primary infantile, B; Glaucoma 3, primary congenital, D; Weill-Marchesani syndrome 3; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	0	6	0	0	1	0	0	1
Greig cephalopolysyndactyly syndrome; Hamartoma of hypothalamus; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1	0	0	0	0	1	0	0	1
Hereditary spastic paraplegia 5A; Congenital bile acid synthesis defect 3	0	2	0	0	0	0	1	1
Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3-related early-onset multisystem autoimmune disease	0	0	0	1	0	0	0	1
Hyperparathyroidism 4; Hypoparathyroidism, familial isolated, 2	0	6	0	0	1	0	0	1
Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Pfeiffer syndrome; Hartsfield-Bixler-Demyer syndrome; Osteoglophonic dysplasia; Trigonocephaly 1; Encephalocraniocutaneous lipomatosis	0	2	0	0	1	0	0	1
Hypokalemic periodic paralysis, type 1; Potassium-aggravated myotonia; Paramyotonia congenita of Von Eulenburg; Hypokalemic periodic paralysis, type 2; Hyperkalemic periodic paralysis; Congenital myasthenic syndrome 16	0	16	0	0	1	0	0	1
Hypoproteinemia, hypercatabolic; Amyloidosis, hereditary systemic 6	0	0	0	0	1	0	0	1
IgE responsiveness, atopic; Cryptosporidiosis-chronic cholangitis-liver disease syndrome	0	3	0	0	1	0	0	1
Intervertebral disc disorder; Marshall syndrome; Stickler syndrome type 2; Fibrochondrogenesis 1; Hearing loss, autosomal dominant 37	0	3	0	0	0	0	1	1
Lethal congenital contracture syndrome 7; Neuropathy, congenital hypomyelinating, 3	0	0	0	0	1	0	0	1
Luscan-Lumish syndrome; Rabin-Pappas syndrome; Intellectual developmental disorder, autosomal dominant 70	0	0	0	0	1	0	0	1
Microcephaly, growth deficiency, seizures, and brain malformations; Galloway-Mowat syndrome 6	0	0	0	0	1	0	0	1
Microcephaly, growth restriction, and increased sister chromatid exchange 2; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5	0	0	0	0	1	0	0	1
Microcephaly-micromelia syndrome; Microcephaly, short stature, and limb abnormalities	0	0	0	1	0	0	0	1
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2; Developmental and epileptic encephalopathy 6B	0	2	0	0	1	0	0	1
Multicentric carpo-tarsal osteolysis with or without nephropathy; Duane retraction syndrome 3 with or without deafness	0	2	0	0	1	0	0	1
Mungan syndrome; Cornelia de Lange syndrome 4	0	0	0	0	1	0	0	1
Neuronopathy, distal hereditary motor, autosomal dominant 8; Scapuloperoneal spinal muscular atrophy; Charcot-Marie-Tooth disease axonal type 2C	0	0	0	0	0	0	1	1
Normophosphatemic familial tumoral calcinosis; MIRAGE syndrome; Monosomy 7 myelodysplasia and leukemia syndrome 2	0	4	0	1	0	0	0	1
Orofacial-digital syndrome III; Asphyxiating thoracic dystrophy 1	0	0	0	0	0	0	1	1
Paget disease of bone 2, early-onset; Familial expansile osteolysis; Autosomal recessive osteopetrosis 7	0	0	0	0	1	0	0	1
Phelan-McDermid syndrome; Schizophrenia 15	0	2	0	0	1	0	0	1
Pitt-Hopkins syndrome; Corneal dystrophy, Fuchs endothelial, 3	0	0	0	1	0	0	0	1
Pitt-Hopkins-like syndrome 2; Chromosome 2p16.3 deletion syndrome	0	18	0	0	1	0	0	1
Polydactyly of a triphalangeal thumb	0	1	0	0	1	0	0	1
Primary erythromelalgia; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive	0	2	0	0	1	0	0	1
Primary erythromelalgia; Paroxysmal extreme pain disorder; Severe myoclonic epilepsy in infancy; Channelopathy-associated congenital insensitivity to pain, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7	0	1	0	0	1	0	0	1
Progressive familial intrahepatic cholestasis type 3; Low phospholipid associated cholelithiasis; Cholestasis, intrahepatic, of pregnancy, 3	0	0	0	0	0	0	1	1
Pseudohypoaldosteronism, type IB1, autosomal recessive; Bronchiectasis with or without elevated sweat chloride 2; Liddle syndrome 3	0	12	0	0	1	0	0	1
Recessive dystrophic epidermolysis bullosa; Pretibial dystrophic epidermolysis bullosa; Dominant dystrophic epidermolysis bullosa with absence of skin; Transient bullous dermolysis of the newborn; Epidermolysis bullosa pruriginosa; Nonsyndromic congenital nail disorder 8; Generalized dominant dystrophic epidermolysis bullosa	0	3	0	0	0	0	1	1
Roberts-SC phocomelia syndrome; Juberg-Hayward syndrome	0	4	0	0	1	0	0	1
SIN3A-related intellectual disability syndrome due to a point mutation	0	1	0	0	1	0	0	1
Sudden cardiac failure, infantile; Sudden cardiac failure, alcohol-induced	0	0	0	0	0	0	1	1
Syndromic X-linked intellectual disability Hedera type; X-linked parkinsonism-spasticity syndrome; Congenital disorder of glycosylation, type IIr	0	1	0	0	1	0	0	1
Thrombocythemia 1; Thrombocytopenia 9; Amegakaryocytic thrombocytopenia, congenital, 2	0	0	0	0	1	0	0	1
UDPglucose-4-epimerase deficiency; Thrombocytopenia 13, syndromic	0	1	0	0	0	0	1	1
Ventriculomegaly-cystic kidney disease; Focal segmental glomerulosclerosis 9	0	5	0	0	1	0	0	1
Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1	0	4	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.1210-13G>T	rs10229820	0.09791
NM_213720.3(CHCHD10):c.268A>C (p.Thr90Pro)	rs767301039	0.05840
NM_004380.3(CREBBP):c.7212A>G (p.Glu2404=)	rs55916120	0.01802
NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu)	rs61731376	0.01088
NM_022489.4(INF2):c.1452T>C (p.Cys484=)	rs371775604	0.01071
NM_001374736.1(DST):c.20997G>A (p.Leu6999=)	rs187652380	0.00781
NM_213720.3(CHCHD10):c.234G>A (p.Ser78=)	rs111527940	0.00755
NM_001374736.1(DST):c.13820C>A (p.Pro4607His)	rs138967674	0.00744
NM_001008212.2(OPTN):c.123G>A (p.Leu41=)	rs11591687	0.00729
NM_022089.4(ATP13A2):c.145G>A (p.Gly49Ser)	rs56379718	0.00681
NM_181078.3(IL21R):c.824G>A (p.Arg275Gln)	rs52822694	0.00673
NM_001283009.2(RTEL1):c.1727G>A (p.Arg576His)	rs115423936	0.00567
NM_022489.4(INF2):c.879G>A (p.Ser293=)	rs184709736	0.00543
NM_022489.4(INF2):c.3108T>C (p.Leu1036=)	rs186075307	0.00532
NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=)	rs115623439	0.00531
NM_001008212.2(OPTN):c.963C>T (p.Ser321=)	rs150381274	0.00525
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu)	rs5959130	0.00500
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)	rs141268327	0.00496
NM_006306.4(SMC1A):c.699G>A (p.Val233=)	rs145319852	0.00488
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His)	rs41266761	0.00484
NM_022489.4(INF2):c.3069C>T (p.Pro1023=)	rs75382114	0.00477
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=)	rs200816691	0.00471
NM_022489.4(INF2):c.1451G>A (p.Cys484Tyr)	rs201323100	0.00470
NM_001972.4(ELANE):c.99C>T (p.Gly33=)	rs17216628	0.00463
NM_001283009.2(RTEL1):c.1548C>T (p.Val516=)	rs116057134	0.00441
NM_001283009.2(RTEL1):c.2775C>T (p.Ser925=)	rs12480346	0.00414
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter)	rs35744605	0.00367
NM_004618.5(TOP3A):c.2317A>G (p.Asn773Asp)	rs9911283	0.00364
NM_001283009.2(RTEL1):c.1017C>T (p.Ser339=)	rs35877957	0.00353
NM_001723.7(DST):c.3336G>C (p.Glu1112Asp)	rs34767818	0.00349
NM_022089.4(ATP13A2):c.2724G>A (p.Ser908=)	rs79724242	0.00341
NM_001283009.2(RTEL1):c.1761G>A (p.Pro587=)	rs116900568	0.00329
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)	rs117370446	0.00329
NM_022089.4(ATP13A2):c.1614C>T (p.Pro538=)	rs56351817	0.00324
NM_015662.3(IFT172):c.3610G>C (p.Val1204Leu)	rs7580439	0.00319
NM_015662.3(IFT172):c.2551G>T (p.Val851Leu)	rs149748534	0.00304
NM_001283009.2(RTEL1):c.3693G>A (p.Thr1231=)	rs181080831	0.00272
NM_022489.4(INF2):c.3078C>T (p.Ser1026=)	rs377023270	0.00272
NM_024426.6(WT1):c.181C>A (p.Arg61=)	rs2234581	0.00270
NM_018979.4(WNK1):c.5281-4G>A	rs72650740	0.00269
NM_213655.5(WNK1):c.2270C>T (p.Pro757Leu)	rs562247853	0.00263
NM_001374736.1(DST):c.14461A>C (p.Asn4821His)	rs139089184	0.00260
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val)	rs114435947	0.00259
NM_001081.4(CUBN):c.2656G>A (p.Glu886Lys)	rs138545198	0.00253
NM_022489.4(INF2):c.2433C>T (p.Ser811=)	rs140010249	0.00248
NM_022489.4(INF2):c.2458C>T (p.Arg820Trp)	rs79327775	0.00247
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=)	rs142528559	0.00233
NM_005045.4(RELN):c.4408G>A (p.Val1470Ile)	rs143213152	0.00232
NM_022089.4(ATP13A2):c.3342C>T (p.Thr1114=)	rs115985012	0.00228
NM_213720.3(CHCHD10):c.330G>A (p.Leu110=)	rs138183274	0.00227
NM_021098.3(CACNA1H):c.6622G>A (p.Ala2208Thr)	rs60445853	0.00223
NM_004380.3(CREBBP):c.4822C>A (p.Pro1608Thr)	rs73491901	0.00217
NM_021098.3(CACNA1H):c.4420C>T (p.Arg1474Trp)	rs57105517	0.00209
NM_001283009.2(RTEL1):c.3423G>A (p.Pro1141=)	rs41306796	0.00207
NM_006363.6(SEC23B):c.1595G>C (p.Gly532Ala)	rs143456757	0.00207
NM_024426.6(WT1):c.309C>A (p.Gly103=)	rs547333427	0.00197
NM_022089.4(ATP13A2):c.2367C>T (p.Leu789=)	rs140048110	0.00195
NM_024426.6(WT1):c.123G>C (p.Pro41=)	rs555140661	0.00188
NM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser)	rs147674680	0.00185
NM_001081.4(CUBN):c.1681G>A (p.Asp561Asn)	rs147449194	0.00181
NM_018979.4(WNK1):c.3582G>A (p.Glu1194=)	rs72650721	0.00173
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=)	rs188336294	0.00171
NM_001081.4(CUBN):c.8968G>A (p.Val2990Ile)	rs115888073	0.00169
NM_213655.5(WNK1):c.2659T>C (p.Leu887=)	rs72649855	0.00167
NM_022489.4(INF2):c.558C>T (p.Ser186=)	rs150714865	0.00158
NM_001374736.1(DST):c.2350C>G (p.Pro784Ala)	rs151271595	0.00152
NM_022489.4(INF2):c.264C>T (p.Gly88=)	rs201587219	0.00150
NM_001283009.2(RTEL1):c.1605G>A (p.Glu535=)	rs114292675	0.00144
NM_022489.4(INF2):c.1647A>G (p.Ala549=)	rs201674759	0.00143
NM_001374736.1(DST):c.21538A>G (p.Met7180Val)	rs200006386	0.00141
NM_001330260.2(SCN8A):c.2098A>T (p.Ile700Leu)	rs187153231	0.00138
NM_152419.3(HGSNAT):c.1250C>T (p.Thr417Ile)	rs200750044	0.00138
NM_021098.3(CACNA1H):c.6848A>T (p.Asp2283Val)	rs58597457	0.00137
NM_022489.4(INF2):c.3612G>A (p.Ser1204=)	rs150811244	0.00134
NM_001283009.2(RTEL1):c.2661C>T (p.Pro887=)	rs3848671	0.00128
NM_001283009.2(RTEL1):c.3561G>A (p.Gln1187=)	rs138074015	0.00128
NM_021098.3(CACNA1H):c.2434G>A (p.Val812Met)	rs28365119	0.00128
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=)	rs144557304	0.00127
NM_022489.4(INF2):c.3134G>A (p.Arg1045Gln)	rs200369827	0.00126
NM_022089.4(ATP13A2):c.7G>C (p.Ala3Pro)	rs549839037	0.00122
NM_000475.5(NR0B1):c.16C>A (p.His6Asn)	rs191365011	0.00118
NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=)	rs144832179	0.00116
NM_022489.4(INF2):c.1732C>T (p.Arg578Cys)	rs201593594	0.00116
NM_018238.4(AGK):c.803C>A (p.Thr268Asn)	rs142779190	0.00115
NM_001374736.1(DST):c.18433C>T (p.Arg6145Trp)	rs193252082	0.00107
NM_001374736.1(DST):c.16495A>T (p.Ser5499Cys)	rs180765536	0.00102
NM_022489.4(INF2):c.2848C>T (p.Arg950Trp)	rs199873407	0.00098
NM_018979.4(WNK1):c.2206A>G (p.Ile736Val)	rs147099510	0.00096
NM_001374736.1(DST):c.20438A>G (p.Asn6813Ser)	rs199628430	0.00095
NM_005045.4(RELN):c.1001G>A (p.Arg334His)	rs146922726	0.00091
NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe)	rs55708915	0.00091
NM_022089.4(ATP13A2):c.951C>T (p.Cys317=)	rs148391179	0.00091
NM_001283009.2(RTEL1):c.762C>T (p.Asn254=)	rs150877719	0.00090
NM_001370466.1(NOD2):c.552C>T (p.Ala184=)	rs5743269	0.00090
NM_022089.4(ATP13A2):c.841-4A>G	rs112549590	0.00090
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln)	rs143214563	0.00089
NM_001853.4(COL9A3):c.1918G>A (p.Glu640Lys)	rs553583384	0.00089
NM_020458.4(TTC7A):c.2484G>C (p.Gln828His)	rs151032299	0.00088
NM_001283009.2(RTEL1):c.2805C>T (p.Leu935=)	rs12625047	0.00086
NM_001283009.2(RTEL1):c.3702G>A (p.Pro1234=)	rs368176460	0.00086
NM_001374736.1(DST):c.15309T>A (p.Phe5103Leu)	rs191081991	0.00086
NM_018979.4(WNK1):c.1855A>G (p.Thr619Ala)	rs149388376	0.00086
NM_002334.4(LRP4):c.257G>A (p.Arg86His)	rs138239756	0.00083
NM_021098.3(CACNA1H):c.5924C>T (p.Ser1975Phe)	rs186422070	0.00083
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp)	rs146651049	0.00082
NM_020458.4(TTC7A):c.1138G>A (p.Ala380Thr)	rs115479276	0.00082
NM_001283009.2(RTEL1):c.2787C>T (p.Ala929=)	rs115030322	0.00081
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val)	rs149372969	0.00081
NM_020458.4(TTC7A):c.1633G>A (p.Val545Ile)	rs6755258	0.00076
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys)	rs79324540	0.00076
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His)	rs146733308	0.00074
NM_004370.6(COL12A1):c.2357C>T (p.Thr786Met)	rs148810173	0.00072
NM_022089.4(ATP13A2):c.3529G>A (p.Gly1177Ser)	rs547860186	0.00072
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser)	rs116711766	0.00071
NM_022089.4(ATP13A2):c.2942C>T (p.Thr981Met)	rs148201608	0.00070
NM_022042.4(SLC26A1):c.1004C>T (p.Pro335Leu)	rs140299648	0.00069
NM_022458.4(LMBR1):c.16G>A (p.Glu6Lys)	rs139646169	0.00069
NM_004370.6(COL12A1):c.1517C>G (p.Ala506Gly)	rs189762594	0.00063
NM_018979.4(WNK1):c.7021G>A (p.Gly2341Ser)	rs146042595	0.00062
NM_001291303.3(FAT4):c.11260A>G (p.Ser3754Gly)	rs79909102	0.00061
NM_004370.6(COL12A1):c.8185G>A (p.Glu2729Lys)	rs200693552	0.00061
NM_016356.5(DCDC2):c.817C>T (p.Pro273Ser)	rs146787541	0.00061
NM_018979.4(WNK1):c.4354A>G (p.Thr1452Ala)	rs142543401	0.00061
NM_213655.5(WNK1):c.2360G>A (p.Arg787Gln)	rs550716144	0.00061
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr)	rs150526992	0.00060
NM_000044.6(AR):c.1536G>A (p.Val512=)	rs150545747	0.00059
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=)	rs200682458	0.00059
NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys)	rs187453572	0.00059
NM_001374736.1(DST):c.2042G>A (p.Arg681His)	rs143101723	0.00058
NM_018979.4(WNK1):c.578C>A (p.Pro193Gln)	rs72647372	0.00058
NM_005045.4(RELN):c.5961G>T (p.Lys1987Asn)	rs143948239	0.00057
NM_000263.4(NAGLU):c.353C>T (p.Pro118Leu)	rs530062090	0.00056
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys)	rs199692186	0.00056
NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val)	rs200396166	0.00054
NM_001365536.1(SCN9A):c.3402G>T (p.Leu1134Phe)	rs200160858	0.00052
NM_000530.8(MPZ):c.133C>T (p.Arg45Trp)	rs200151353	0.00051
NM_024426.6(WT1):c.1161A>G (p.Ala387=)	rs141834493	0.00051
NM_018979.4(WNK1):c.2336C>T (p.Ala779Val)	rs141428612	0.00050
NM_015662.3(IFT172):c.2597A>G (p.Gln866Arg)	rs139229844	0.00049
NM_001370466.1(NOD2):c.193G>A (p.Val65Ile)	rs187264529	0.00048
NM_004370.6(COL12A1):c.2588G>A (p.Gly863Glu)	rs370388701	0.00048
NM_022489.4(INF2):c.1144A>G (p.Ser382Gly)	rs201077878	0.00048
NM_005045.4(RELN):c.139G>A (p.Glu47Lys)	rs139648092	0.00047
NM_022489.4(INF2):c.3638G>A (p.Arg1213Gln)	rs199801767	0.00047
NM_024426.6(WT1):c.1131T>C (p.Pro377=)	rs151034312	0.00047
NM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu)	rs142304943	0.00046
NM_002582.4(PARN):c.1843A>G (p.Lys615Glu)	rs368440052	0.00046
NM_207361.6(FREM2):c.4960A>C (p.Ser1654Arg)	rs114595447	0.00046
NM_213655.5(WNK1):c.2995C>G (p.Leu999Val)	rs72649856	0.00046
NM_018979.4(WNK1):c.3578G>A (p.Ser1193Asn)	rs72650720	0.00045
NM_021098.3(CACNA1H):c.1508G>A (p.Arg503His)	rs201009269	0.00045
NM_024426.6(WT1):c.1063T>C (p.Cys355Arg)	rs142059681	0.00044
NM_001122955.4(BSCL2):c.1031C>T (p.Ser344Phe)	rs140676897	0.00043
NM_001365536.1(SCN9A):c.3801T>C (p.Asp1267=)	rs202047865	0.00043
NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys)	rs146877597	0.00043
NM_005219.5(DIAPH1):c.3050T>C (p.Met1017Thr)	rs376220834	0.00043
NM_002334.4(LRP4):c.3944C>T (p.Ser1315Leu)	rs150681693	0.00042
NM_004370.6(COL12A1):c.3202A>G (p.Ile1068Val)	rs201852681	0.00042
NM_005219.5(DIAPH1):c.2158C>T (p.Leu720Phe)	rs200606811	0.00042
NM_207361.6(FREM2):c.6201T>A (p.Asn2067Lys)	rs114229197	0.00042
NM_001081.4(CUBN):c.6089G>A (p.Arg2030Gln)	rs143400113	0.00041
NM_001081.4(CUBN):c.9061G>A (p.Glu3021Lys)	rs41289299	0.00041
NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=)	rs199550149	0.00041
NM_001382.4(DPAGT1):c.729-4A>C	rs199873583	0.00041
NM_005045.4(RELN):c.5822T>C (p.Val1941Ala)	rs149837553	0.00041
NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln)	rs141440865	0.00041
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala)	rs201788154	0.00039
NM_001374736.1(DST):c.2125A>G (p.Met709Val)	rs142650835	0.00039
NM_001972.4(ELANE):c.171C>T (p.Ala57=)	rs201224981	0.00039
NM_018979.4(WNK1):c.5050A>G (p.Ile1684Val)	rs770568108	0.00039
NM_020458.4(TTC7A):c.2080A>G (p.Met694Val)	rs143506259	0.00039
NM_022089.4(ATP13A2):c.3087C>T (p.Phe1029=)	rs184878897	0.00039
NM_024426.6(WT1):c.375C>T (p.Gly125=)	rs776209354	0.00039
NM_032415.7(CARD11):c.2119C>T (p.Arg707Cys)	rs143049136	0.00039
NM_005045.4(RELN):c.6166C>T (p.Pro2056Ser)	rs200409290	0.00038
NM_021098.3(CACNA1H):c.2146G>A (p.Gly716Ser)	rs187225648	0.00038
NM_022489.4(INF2):c.1773C>T (p.Asp591=)	rs201853087	0.00038
NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=)	rs371939448	0.00037
NM_001972.4(ELANE):c.654C>T (p.Phe218=)	rs148492780	0.00037
NM_022089.4(ATP13A2):c.2020G>A (p.Ala674Thr)	rs143834546	0.00037
NM_025114.4(CEP290):c.943-4C>T	rs199770158	0.00037
NM_021098.3(CACNA1H):c.809A>C (p.Asn270Thr)	rs200520956	0.00036
NM_022489.4(INF2):c.1372C>T (p.Pro458Ser)	rs760986113	0.00036
NM_025114.4(CEP290):c.2479C>G (p.Leu827Val)	rs201569048	0.00036
NM_001374736.1(DST):c.12680G>A (p.Arg4227His)	rs201346012	0.00035
NM_004370.6(COL12A1):c.8639A>G (p.His2880Arg)	rs185171880	0.00035
NM_014159.7(SETD2):c.664C>A (p.Leu222Ile)	rs192262279	0.00035
NM_020458.4(TTC7A):c.2246A>G (p.Tyr749Cys)	rs200237098	0.00035
NM_001291303.3(FAT4):c.5054G>A (p.Arg1685Gln)	rs376422522	0.00034
NM_004370.6(COL12A1):c.5635G>A (p.Ala1879Thr)	rs184585202	0.00034
NM_006265.3(RAD21):c.1352T>G (p.Leu451Arg)	rs144953114	0.00034
NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu)	rs201756175	0.00034
NM_005045.4(RELN):c.877G>A (p.Asp293Asn)	rs200289289	0.00033
NM_005219.5(DIAPH1):c.1784T>C (p.Ile595Thr)	rs374299911	0.00033
NM_021098.3(CACNA1H):c.1795G>A (p.Ala599Thr)	rs776370351	0.00033
NM_001283009.2(RTEL1):c.1260C>T (p.Ser420=)	rs188479221	0.00032
NM_001283009.2(RTEL1):c.2146G>A (p.Ala716Thr)	rs200003693	0.00032
NM_001283009.2(RTEL1):c.372C>T (p.Asn124=)	rs61736622	0.00032
NM_018979.4(WNK1):c.5741T>C (p.Ile1914Thr)	rs184764148	0.00032
NM_005045.4(RELN):c.2446C>T (p.Leu816Phe)	rs144653976	0.00031
NM_005045.4(RELN):c.2944A>C (p.Ile982Leu)	rs143972828	0.00031
NM_005045.4(RELN):c.5225G>A (p.Arg1742Gln)	rs199553777	0.00031
NM_005045.4(RELN):c.5668A>G (p.Ile1890Val)	rs147026512	0.00031
NM_015662.3(IFT172):c.3005T>A (p.Leu1002His)	rs369466577	0.00031
NM_021098.3(CACNA1H):c.2269G>C (p.Gly757Arg)	rs200813987	0.00031
NM_021098.3(CACNA1H):c.6251C>T (p.Ala2084Val)	rs368835582	0.00031
NM_022089.4(ATP13A2):c.1128C>T (p.Cys376=)	rs148970081	0.00031
NM_001374736.1(DST):c.15446C>T (p.Thr5149Ile)	rs369194519	0.00030
NM_005219.5(DIAPH1):c.2032C>T (p.Pro678Ser)	rs186370335	0.00030
NM_015662.3(IFT172):c.886C>T (p.Arg296Trp)	rs145541911	0.00030
NM_025114.4(CEP290):c.4250A>G (p.Gln1417Arg)	rs201504946	0.00030
NM_000414.4(HSD17B4):c.1685G>A (p.Arg562His)	rs35281104	0.00029
NM_001243133.2(NLRP3):c.404G>A (p.Arg135His)	rs138946894	0.00029
NM_021098.3(CACNA1H):c.4790G>A (p.Arg1597Gln)	rs370079169	0.00029
NM_022089.4(ATP13A2):c.1244G>A (p.Arg415Gln)	rs190746040	0.00029
NM_001972.4(ELANE):c.16C>A (p.Arg6=)	rs182347433	0.00028
NM_001081.4(CUBN):c.3646C>G (p.Pro1216Ala)	rs145881708	0.00027
NM_001370466.1(NOD2):c.760C>T (p.Leu254Phe)	rs756943416	0.00027
NM_021098.3(CACNA1H):c.4714C>T (p.Arg1572Trp)	rs199693105	0.00027
NM_024426.6(WT1):c.1182C>T (p.Arg394=)	rs147939483	0.00027
NM_001202.6(BMP4):c.124G>C (p.Ala42Pro)	rs140920120	0.00026
NM_003466.4(PAX8):c.1116C>T (p.Pro372=)	rs189229644	0.00026
NM_004370.6(COL12A1):c.4613A>G (p.Asn1538Ser)	rs115246424	0.00026
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu)	rs367930028	0.00026
NM_018979.4(WNK1):c.5720C>T (p.Pro1907Leu)	rs200979623	0.00026
NM_018979.4(WNK1):c.5869C>T (p.Arg1957Cys)	rs201766777	0.00026
NM_021098.3(CACNA1H):c.1655G>A (p.Arg552Gln)	rs568224207	0.00026
NM_022489.4(INF2):c.1929C>T (p.Ile643=)	rs756712490	0.00026
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu)	rs570277510	0.00026
NM_213655.5(WNK1):c.2939G>T (p.Ser980Ile)	rs372091476	0.00026
NM_000052.7(ATP7A):c.2131G>A (p.Val711Ile)	rs782268170	0.00025
NM_000052.7(ATP7A):c.3613G>C (p.Glu1205Gln)	rs782349186	0.00025
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)	rs144078282	0.00025
NM_003466.4(PAX8):c.1009T>G (p.Ser337Ala)	rs199939219	0.00025
NM_005045.4(RELN):c.5711C>T (p.Thr1904Met)	rs114190729	0.00025
NM_022089.4(ATP13A2):c.2404G>A (p.Gly802Ser)	rs752487771	0.00025
NM_000091.5(COL4A3):c.2168C>T (p.Pro723Leu)	rs201198284	0.00024
NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr)	rs142963320	0.00024
NM_001283009.2(RTEL1):c.3090G>A (p.Ser1030=)	rs187238540	0.00024
NM_001374736.1(DST):c.15788G>A (p.Ser5263Asn)	rs374575683	0.00024
NM_001374736.1(DST):c.5203A>G (p.Ser1735Gly)	rs369218541	0.00024
NM_005045.4(RELN):c.6278A>C (p.His2093Pro)	rs149152189	0.00024
NM_015662.3(IFT172):c.3711+3G>A	rs202055593	0.00024
NM_021098.3(CACNA1H):c.1754C>T (p.Pro585Leu)	rs372367313	0.00024
NM_213655.5(WNK1):c.3371G>A (p.Gly1124Glu)	rs201042606	0.00024
NM_001122955.4(BSCL2):c.299G>T (p.Cys100Phe)	rs147314661	0.00023
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=)	rs200014315	0.00023
NM_004370.6(COL12A1):c.607C>A (p.Leu203Ile)	rs375673671	0.00023
NM_001283009.2(RTEL1):c.3422C>T (p.Pro1141Leu)	rs201682415	0.00022
NM_018979.4(WNK1):c.2290A>G (p.Thr764Ala)	rs143890340	0.00022
NM_018979.4(WNK1):c.865T>C (p.Ser289Pro)	rs200234585	0.00022
NM_021098.3(CACNA1H):c.2039G>A (p.Ser680Asn)	rs371925462	0.00022
NM_021098.3(CACNA1H):c.6721G>A (p.Gly2241Arg)	rs200606995	0.00022
NM_080425.4(GNAS):c.154G>A (p.Glu52Lys)	rs527488103	0.00022
NM_176869.3(PPA2):c.380G>T (p.Arg127Leu)	rs139076647	0.00022
NM_001382.4(DPAGT1):c.250A>C (p.Lys84Gln)	rs112355069	0.00021
NM_004370.6(COL12A1):c.4807C>G (p.Pro1603Ala)	rs200034130	0.00021
NM_005045.4(RELN):c.1231C>A (p.Leu411Ile)	rs144978163	0.00021
NM_015662.3(IFT172):c.2350C>T (p.Arg784Trp)	rs137906877	0.00021
NM_021098.3(CACNA1H):c.6625G>C (p.Ala2209Pro)	rs59103647	0.00021
NM_021098.3(CACNA1H):c.926G>A (p.Arg309His)	rs201651793	0.00021
NM_001283009.2(RTEL1):c.3463G>A (p.Val1155Met)	rs149145821	0.00020
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)	rs201502401	0.00020
NM_018979.4(WNK1):c.5851A>G (p.Thr1951Ala)	rs72650764	0.00020
NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys)	rs138908576	0.00020
NM_000377.3(WAS):c.1280C>T (p.Pro427Leu)	rs782307200	0.00019
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser)	rs200303151	0.00019
NM_001081.4(CUBN):c.6020C>T (p.Thr2007Met)	rs140202552	0.00019
NM_001365536.1(SCN9A):c.129T>C (p.Asp43=)	rs200826539	0.00019
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys)	rs200945460	0.00019
NM_005045.4(RELN):c.10016T>C (p.Met3339Thr)	rs150638029	0.00019
NM_006306.4(SMC1A):c.1173G>A (p.Gln391=)	rs147952638	0.00019
NM_006662.3(SRCAP):c.2648C>G (p.Ala883Gly)	rs139524110	0.00019
NM_015662.3(IFT172):c.235A>G (p.Thr79Ala)	rs752069515	0.00019
NM_022489.4(INF2):c.3103G>A (p.Gly1035Ser)	rs368995122	0.00019
NM_024426.6(WT1):c.193G>A (p.Gly65Arg)	rs374404615	0.00019
NM_212482.4(FN1):c.2413A>G (p.Thr805Ala)	rs199957523	0.00019
NM_005045.4(RELN):c.2125A>G (p.Met709Val)	rs114577182	0.00018
NM_021098.3(CACNA1H):c.1429C>T (p.Arg477Cys)	rs376935647	0.00018
NM_005219.5(DIAPH1):c.301-5C>T	rs190481949	0.00017
NM_020937.4(FANCM):c.2809C>T (p.Leu937Phe)	rs138274490	0.00017
NM_000052.7(ATP7A):c.1954C>T (p.Arg652Trp)	rs377714939	0.00016
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys)	rs376725882	0.00016
NM_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly)	rs121918802	0.00016
NM_001283009.2(RTEL1):c.1830C>T (p.Ala610=)	rs140738232	0.00016
NM_001283009.2(RTEL1):c.2921G>A (p.Arg974Gln)	rs369716125	0.00016
NM_001291867.2(NHS):c.3310C>T (p.His1104Tyr)	rs201263814	0.00016
NM_001365536.1(SCN9A):c.1110G>A (p.Thr370=)	rs202002028	0.00016
NM_002473.6(MYH9):c.4556G>A (p.Ser1519Asn)	rs138193963	0.00016
NM_005045.4(RELN):c.8212C>T (p.Arg2738Trp)	rs202166176	0.00016
NM_006563.5(KLF1):c.259C>G (p.Pro87Ala)	rs752204035	0.00016
NM_021098.3(CACNA1H):c.6244C>T (p.Arg2082Trp)	rs771719773	0.00016
NM_021098.3(CACNA1H):c.6464G>A (p.Arg2155Gln)	rs377261049	0.00016
NM_022489.4(INF2):c.2053A>G (p.Ile685Val)	rs199526439	0.00016
NM_000021.4(PSEN1):c.145C>G (p.Pro49Ala)	rs200373970	0.00015
NM_005219.5(DIAPH1):c.2107C>G (p.Pro703Ala)	rs201433617	0.00015
NM_015662.3(IFT172):c.3851G>A (p.Arg1284Gln)	rs147394910	0.00015
NM_021098.3(CACNA1H):c.6545G>A (p.Arg2182His)	rs200724225	0.00015
NM_021625.5(TRPV4):c.1976C>T (p.Ser659Leu)	rs779715512	0.00015
NM_022489.4(INF2):c.2185G>A (p.Ala729Thr)	rs533208785	0.00015
NM_001165963.4(SCN1A):c.5217C>T (p.Pro1739=)	rs149315236	0.00014
NM_001370466.1(NOD2):c.1118C>T (p.Pro373Leu)	rs779346494	0.00014
NM_002049.4(GATA1):c.1045G>A (p.Val349Met)	rs199710067	0.00014
NM_005045.4(RELN):c.1013T>G (p.Val338Gly)	rs200513558	0.00014
NM_005045.4(RELN):c.7634C>T (p.Ala2545Val)	rs116634494	0.00014
NM_005045.4(RELN):c.8795C>A (p.Ser2932Tyr)	rs139225791	0.00014
NM_018979.4(WNK1):c.1834G>A (p.Gly612Ser)	rs146450828	0.00014
NM_021098.3(CACNA1H):c.1753C>T (p.Pro585Ser)	rs535609762	0.00014
NM_021098.3(CACNA1H):c.2583C>T (p.Asp861=)	rs368201539	0.00014
NM_021098.3(CACNA1H):c.5665G>A (p.Gly1889Arg)	rs201018826	0.00014
NM_022089.4(ATP13A2):c.106-5C>T	rs117838709	0.00014
NM_022089.4(ATP13A2):c.3472C>T (p.Arg1158Cys)	rs201610681	0.00014
NM_022489.4(INF2):c.2479C>A (p.Gln827Lys)	rs4983379	0.00014
NM_022489.4(INF2):c.3684G>A (p.Arg1228=)	rs189263181	0.00014
NM_000414.4(HSD17B4):c.11C>G (p.Pro4Arg)	rs142889209	0.00013
NM_001291303.3(FAT4):c.5401C>T (p.Arg1801Trp)	rs201887525	0.00013
NM_005045.4(RELN):c.1708C>G (p.His570Asp)	rs374546580	0.00013
NM_018979.4(WNK1):c.3188C>T (p.Thr1063Ile)	rs201379287	0.00013
NM_021098.3(CACNA1H):c.6440C>T (p.Pro2147Leu)	rs748980218	0.00013
NM_022489.4(INF2):c.1755G>A (p.Ala585=)	rs375573206	0.00013
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys)	rs374162669	0.00012
NM_000052.7(ATP7A):c.278C>T (p.Thr93Met)	rs539177302	0.00012
NM_000414.4(HSD17B4):c.1199A>G (p.Asn400Ser)	rs374161061	0.00012
NM_001374736.1(DST):c.3853A>G (p.Asn1285Asp)	rs201419873	0.00012
NM_001378615.1(CC2D2A):c.4334G>A (p.Arg1445Gln)	rs113065116	0.00012
NM_003466.4(PAX8):c.346G>A (p.Val116Ile)	rs764623767	0.00012
NM_003466.4(PAX8):c.981C>T (p.Ser327=)	rs552812059	0.00012
NM_004370.6(COL12A1):c.3767A>G (p.His1256Arg)	rs199692759	0.00012
NM_005045.4(RELN):c.7268G>A (p.Arg2423His)	rs140660860	0.00012
NM_015662.3(IFT172):c.449G>C (p.Gly150Ala)	rs368343162	0.00012
NM_021098.3(CACNA1H):c.1460G>A (p.Arg487His)	rs545918011	0.00012
NM_021098.3(CACNA1H):c.5825C>T (p.Ala1942Val)	rs72552053	0.00012
NM_021098.3(CACNA1H):c.6229C>T (p.Arg2077Cys)	rs376607278	0.00012
NM_022089.4(ATP13A2):c.1711G>A (p.Asp571Asn)	rs369863178	0.00012
NM_022089.4(ATP13A2):c.3329A>G (p.Asn1110Ser)	rs758675397	0.00012
NM_022089.4(ATP13A2):c.356C>T (p.Pro119Leu)	rs752619582	0.00012
NM_022489.4(INF2):c.1264C>T (p.Pro422Ser)	rs767748953	0.00012
NM_000092.5(COL4A4):c.338G>A (p.Gly113Asp)	rs766085522	0.00011
NM_000336.3(SCNN1B):c.1376T>C (p.Met459Thr)	rs201369319	0.00011
NM_000475.5(NR0B1):c.545G>C (p.Gly182Ala)	rs761749382	0.00011
NM_001081.4(CUBN):c.8021G>A (p.Arg2674His)	rs184746130	0.00011
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln)	rs544692790	0.00011
NM_001171.6(ABCC6):c.2140G>A (p.Gly714Arg)	rs200513114	0.00011
NM_001283009.2(RTEL1):c.2987C>A (p.Pro996His)	rs373210484	0.00011
NM_001291303.3(FAT4):c.9451G>A (p.Ala3151Thr)	rs200702071	0.00011
NM_001370466.1(NOD2):c.2087C>T (p.Pro696Leu)	rs201076024	0.00011
NM_001382567.1(STIM1):c.1847C>T (p.Ala616Val)	rs750326949	0.00011
NM_001972.4(ELANE):c.217G>A (p.Ala73Thr)	rs201421847	0.00011
NM_004370.6(COL12A1):c.292G>A (p.Asp98Asn)	rs558571598	0.00011
NM_005360.5(MAF):c.460G>A (p.Gly154Ser)	rs1022938471	0.00011
NM_005726.6(TSFM):c.644C>T (p.Ser215Phe)	rs376562033	0.00011
NM_005765.3(ATP6AP2):c.490G>A (p.Val164Ile)	rs142013283	0.00011
NM_020458.4(TTC7A):c.1070C>G (p.Thr357Ser)	rs200443615	0.00011
NM_020458.4(TTC7A):c.2015C>T (p.Ser672Phe)	rs143184428	0.00011
NM_021098.3(CACNA1H):c.2113C>T (p.Arg705Cys)	rs56930579	0.00011
NM_021098.3(CACNA1H):c.3650G>A (p.Arg1217His)	rs374847612	0.00011
NM_021098.3(CACNA1H):c.4621A>G (p.Ile1541Val)	rs770398676	0.00011
NM_021098.3(CACNA1H):c.5809G>A (p.Val1937Met)	rs60040113	0.00011
NM_022089.4(ATP13A2):c.114C>T (p.Ser38=)	rs368279466	0.00011
NM_022089.4(ATP13A2):c.1536C>T (p.Phe512=)	rs536306337	0.00011
NM_022089.4(ATP13A2):c.2593G>A (p.Glu865Lys)	rs148534162	0.00011
NM_022089.4(ATP13A2):c.3439C>T (p.Arg1147Cys)	rs370421723	0.00011
NM_022489.4(INF2):c.3209G>A (p.Arg1070Gln)	rs374424323	0.00011
NM_024426.6(WT1):c.343C>T (p.Pro115Ser)	rs916583720	0.00011
NM_032415.7(CARD11):c.3113C>T (p.Ala1038Val)	rs374682435	0.00011
NM_152703.5(SAMD9L):c.854G>A (p.Arg285Gln)	rs151204118	0.00011
NM_213655.5(WNK1):c.2533C>T (p.Arg845Cys)	rs200794710	0.00011
NM_213655.5(WNK1):c.2605C>A (p.Leu869Ile)	rs377073379	0.00011
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr)	rs368622356	0.00010
NM_000168.6(GLI3):c.2200G>A (p.Asp734Asn)	rs140479817	0.00010
NM_000460.4(THPO):c.889A>G (p.Thr297Ala)	rs530613857	0.00010
NM_001081.4(CUBN):c.3746G>A (p.Arg1249His)	rs151039810	0.00010
NM_001370466.1(NOD2):c.233C>T (p.Ala78Val)	rs202052365	0.00010
NM_001370466.1(NOD2):c.544C>T (p.Pro182Ser)	rs143080077	0.00010
NM_001972.4(ELANE):c.23C>T (p.Ala8Val)	rs201961347	0.00010
NM_001972.4(ELANE):c.265C>T (p.Leu89Phe)	rs1085307624	0.00010
NM_004370.6(COL12A1):c.9076C>G (p.Pro3026Ala)	rs376189614	0.00010
NM_004560.4(ROR2):c.2240G>A (p.Arg747Gln)	rs201155263	0.00010
NM_015662.3(IFT172):c.337-5C>T	rs141086523	0.00010
NM_021098.3(CACNA1H):c.1309C>T (p.Arg437Trp)	rs377061296	0.00010
NM_021098.3(CACNA1H):c.1610G>A (p.Arg537His)	rs548407874	0.00010
NM_022489.4(INF2):c.2489G>T (p.Gly830Val)	rs377340315	0.00010
NM_152703.5(SAMD9L):c.2528G>A (p.Arg843Gln)	rs200160724	0.00010
NM_212482.4(FN1):c.869G>A (p.Arg290His)	rs150990682	0.00010
NM_000052.7(ATP7A):c.1385C>T (p.Pro462Leu)	rs201999500	0.00009
NM_000091.5(COL4A3):c.25C>T (p.Pro9Ser)	rs890999119	0.00009
NM_000428.3(LTBP2):c.1301C>T (p.Pro434Leu)	rs371940681	0.00009
NM_000475.5(NR0B1):c.469C>T (p.His157Tyr)	rs776059398	0.00009
NM_001008212.2(OPTN):c.1401+4A>G	rs371470839	0.00009
NM_001081.4(CUBN):c.2894A>G (p.Gln965Arg)	rs147955566	0.00009
NM_001203.3(BMPR1B):c.16G>A (p.Ala6Thr)	rs143885868	0.00009
NM_001203.3(BMPR1B):c.251C>T (p.Thr84Ile)	rs200083866	0.00009
NM_001382567.1(STIM1):c.408G>C (p.Glu136Asp)	rs200648767	0.00009
NM_001972.4(ELANE):c.104G>A (p.Arg35Gln)	rs375350474	0.00009
NM_004370.6(COL12A1):c.2323A>G (p.Arg775Gly)	rs200167099	0.00009
NM_004380.3(CREBBP):c.2854G>A (p.Val952Met)	rs369930675	0.00009
NM_006363.6(SEC23B):c.434A>G (p.Gln145Arg)	rs140466726	0.00009
NM_018979.4(WNK1):c.5714T>A (p.Val1905Glu)	rs759895083	0.00009
NM_020458.4(TTC7A):c.1570G>T (p.Ala524Ser)	rs201008860	0.00009
NM_021098.3(CACNA1H):c.1316G>A (p.Arg439His)	rs374363044	0.00009
NM_021098.3(CACNA1H):c.1673C>T (p.Ser558Leu)	rs771714007	0.00009
NM_021098.3(CACNA1H):c.6023G>T (p.Ser2008Ile)	rs750277154	0.00009
NM_021098.3(CACNA1H):c.826C>T (p.Arg276Trp)	rs199664795	0.00009
NM_022089.4(ATP13A2):c.35C>T (p.Thr12Met)	rs151117874	0.00009
NM_022489.4(INF2):c.1197C>T (p.His399=)	rs746493706	0.00009
NM_022489.4(INF2):c.1640G>A (p.Gly547Asp)	rs376451593	0.00009
NM_024426.6(WT1):c.1158G>A (p.Ser386=)	rs377446096	0.00009
NM_024426.6(WT1):c.381C>G (p.Pro127=)	rs771681406	0.00009
NM_213655.5(WNK1):c.3107C>T (p.Ala1036Val)	rs187534119	0.00009
NM_000052.7(ATP7A):c.1615C>A (p.Pro539Thr)	rs781817601	0.00008
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)	rs201540674	0.00008
NM_001283009.2(RTEL1):c.869C>T (p.Ala290Val)	rs202157063	0.00008
NM_001365536.1(SCN9A):c.213G>A (p.Val71=)	rs200240989	0.00008
NM_004370.6(COL12A1):c.1163C>T (p.Thr388Met)	rs201657256	0.00008
NM_005219.5(DIAPH1):c.2036C>T (p.Pro679Leu)	rs768743097	0.00008
NM_018979.4(WNK1):c.4130T>A (p.Val1377Glu)	rs574069625	0.00008
NM_021098.3(CACNA1H):c.3439A>G (p.Ser1147Gly)	rs780122141	0.00008
NM_021098.3(CACNA1H):c.3544G>A (p.Gly1182Ser)	rs780831084	0.00008
NM_021098.3(CACNA1H):c.6605G>A (p.Gly2202Asp)	rs762635374	0.00008
NM_021098.3(CACNA1H):c.718G>A (p.Val240Ile)	rs369630836	0.00008
NM_021939.4(FKBP10):c.520G>A (p.Gly174Ser)	rs140950528	0.00008
NM_022089.4(ATP13A2):c.1079G>A (p.Gly360Glu)	rs566918264	0.00008
NM_022489.4(INF2):c.3157G>A (p.Val1053Met)	rs760721935	0.00008
NM_024426.6(WT1):c.314C>G (p.Ala105Gly)	rs948061247	0.00008
NM_000052.7(ATP7A):c.207G>A (p.Met69Ile)	rs782290331	0.00007
NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val)	rs368917354	0.00007
NM_001001557.4(GDF6):c.815C>T (p.Pro272Leu)	rs561421783	0.00007
NM_001081.4(CUBN):c.10028C>T (p.Pro3343Leu)	rs150358307	0.00007
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)	rs202153130	0.00007
NM_001081.4(CUBN):c.3391A>G (p.Thr1131Ala)	rs201138390	0.00007
NM_001243133.2(NLRP3):c.2273T>C (p.Val758Ala)	rs770791406	0.00007
NM_001374736.1(DST):c.12238A>G (p.Ile4080Val)	rs200855949	0.00007
NM_004370.6(COL12A1):c.5483C>T (p.Pro1828Leu)	rs373011926	0.00007
NM_004370.6(COL12A1):c.8420G>A (p.Arg2807His)	rs186328815	0.00007
NM_005219.5(DIAPH1):c.1700C>T (p.Ala567Val)	rs752510907	0.00007
NM_005219.5(DIAPH1):c.2902C>T (p.Arg968Cys)	rs777195456	0.00007
NM_006662.3(SRCAP):c.5707C>T (p.Arg1903Trp)	rs74015039	0.00007
NM_018668.5(VPS33B):c.403G>A (p.Asp135Asn)	rs369726600	0.00007
NM_020458.4(TTC7A):c.2444C>T (p.Ala815Val)	rs748142531	0.00007
NM_021098.3(CACNA1H):c.171G>T (p.Glu57Asp)	rs539324457	0.00007
NM_021098.3(CACNA1H):c.3583C>T (p.Arg1195Trp)	rs576035669	0.00007
NM_021098.3(CACNA1H):c.6199G>A (p.Val2067Ile)	rs370883583	0.00007
NM_021098.3(CACNA1H):c.6385G>A (p.Glu2129Lys)	rs369185359	0.00007
NM_021098.3(CACNA1H):c.6611C>T (p.Ala2204Val)	rs763675499	0.00007
NM_021098.3(CACNA1H):c.6817C>T (p.Leu2273Phe)	rs201577113	0.00007
NM_022089.4(ATP13A2):c.197G>A (p.Arg66His)	rs367745335	0.00007
NM_022089.4(ATP13A2):c.3193G>A (p.Val1065Met)	rs377431904	0.00007
NM_022489.4(INF2):c.1304C>T (p.Ala435Val)	rs777455096	0.00007
NM_022489.4(INF2):c.1588G>A (p.Val530Met)	rs369984449	0.00007
NM_022489.4(INF2):c.3082C>T (p.Arg1028Cys)	rs369987125	0.00007
NM_024426.6(WT1):c.1017-9T>C	rs368486676	0.00007
NM_212482.4(FN1):c.1871A>G (p.Asn624Ser)	rs199764052	0.00007
NM_213720.3(CHCHD10):c.274G>A (p.Ala92Thr)	rs374353973	0.00007
NM_000052.7(ATP7A):c.3632G>A (p.Arg1211Gln)	rs782166627	0.00006
NM_000052.7(ATP7A):c.824A>G (p.Asn275Ser)	rs368147403	0.00006
NM_000146.4(FTL):c.155T>G (p.Phe52Cys)	rs543242420	0.00006
NM_000334.4(SCN4A):c.2794G>A (p.Asp932Asn)	rs199656266	0.00006
NM_000414.4(HSD17B4):c.2041A>G (p.Lys681Glu)	rs139348491	0.00006
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln)	rs372685632	0.00006
NM_001001557.4(GDF6):c.322G>A (p.Ala108Thr)	rs368498747	0.00006
NM_001081.4(CUBN):c.2120G>A (p.Arg707His)	rs763524933	0.00006
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr)	rs201079458	0.00006
NM_001166108.2(PALLD):c.2084T>G (p.Leu695Arg)	rs139375029	0.00006
NM_001171.6(ABCC6):c.3458G>A (p.Arg1153His)	rs553479685	0.00006
NM_001203.3(BMPR1B):c.229T>G (p.Ser77Ala)	rs200702974	0.00006
NM_001203.3(BMPR1B):c.289A>G (p.Thr97Ala)	rs759423600	0.00006
NM_001243133.2(NLRP3):c.2982G>C (p.Gln994His)	rs148150585	0.00006
NM_001365536.1(SCN9A):c.5379G>A (p.Ala1793=)	rs201875421	0.00006
NM_001374736.1(DST):c.15489G>C (p.Glu5163Asp)	rs186788522	0.00006
NM_001972.4(ELANE):c.396C>T (p.Asn132=)	rs144441259	0.00006
NM_002609.4(PDGFRB):c.2705C>T (p.Thr902Ile)	rs200865355	0.00006
NM_004370.6(COL12A1):c.2746A>G (p.Ile916Val)	rs200819563	0.00006
NM_004370.6(COL12A1):c.62T>C (p.Ile21Thr)	rs576888932	0.00006
NM_004370.6(COL12A1):c.7432C>T (p.Arg2478Trp)	rs769219928	0.00006
NM_005045.4(RELN):c.1669T>G (p.Phe557Val)	rs757726526	0.00006
NM_005045.4(RELN):c.3191C>G (p.Ala1064Gly)	rs565236668	0.00006
NM_005045.4(RELN):c.5246A>G (p.Asn1749Ser)	rs755596079	0.00006
NM_005045.4(RELN):c.5345G>A (p.Arg1782His)	rs747527621	0.00006
NM_006662.3(SRCAP):c.4355C>T (p.Ser1452Leu)	rs200175704	0.00006
NM_015662.3(IFT172):c.877G>A (p.Ala293Thr)	rs370903625	0.00006
NM_018979.4(WNK1):c.5144A>G (p.Asn1715Ser)	rs756614581	0.00006
NM_018979.4(WNK1):c.5734A>C (p.Ile1912Leu)	rs201995891	0.00006
NM_021098.3(CACNA1H):c.1693G>A (p.Gly565Arg)	rs776058661	0.00006
NM_021098.3(CACNA1H):c.1939G>A (p.Gly647Ser)	rs147702970	0.00006
NM_021098.3(CACNA1H):c.3143T>C (p.Leu1048Pro)	rs377549389	0.00006
NM_021098.3(CACNA1H):c.3425G>A (p.Arg1142His)	rs538758039	0.00006
NM_021098.3(CACNA1H):c.3448C>T (p.Arg1150Cys)	rs753993842	0.00006
NM_021098.3(CACNA1H):c.3554C>T (p.Ala1185Val)	rs769568324	0.00006
NM_021098.3(CACNA1H):c.3581G>A (p.Arg1194Gln)	rs759668583	0.00006
NM_021098.3(CACNA1H):c.4972A>G (p.Ile1658Val)	rs375017750	0.00006
NM_021098.3(CACNA1H):c.535G>A (p.Val179Ile)	rs374558503	0.00006
NM_021098.3(CACNA1H):c.5717C>T (p.Pro1906Leu)	rs749054531	0.00006
NM_021098.3(CACNA1H):c.6032G>A (p.Arg2011Gln)	rs554063452	0.00006
NM_021098.3(CACNA1H):c.6412G>A (p.Val2138Met)	rs755669926	0.00006
NM_021098.3(CACNA1H):c.958G>A (p.Glu320Lys)	rs367584657	0.00006
NM_022089.4(ATP13A2):c.1243C>T (p.Arg415Trp)	rs768796427	0.00006
NM_022089.4(ATP13A2):c.1925C>T (p.Ala642Val)	rs147260398	0.00006
NM_022489.4(INF2):c.2755C>G (p.Leu919Val)	rs377145979	0.00006
NM_022489.4(INF2):c.3059C>T (p.Ala1020Val)	rs368372551	0.00006
NM_024426.6(WT1):c.162C>G (p.Ser54Arg)	rs776954184	0.00006
NM_024426.6(WT1):c.696C>T (p.Ser232=)	rs9332974	0.00006
NM_024426.6(WT1):c.785G>A (p.Gly262Asp)	rs372225738	0.00006
NM_025114.4(CEP290):c.6645+1G>A	rs201218801	0.00006
NM_139058.3(ARX):c.1170C>T (p.Gly390=)	rs761632870	0.00006
NM_152703.5(SAMD9L):c.4082T>C (p.Val1361Ala)	rs202162088	0.00006
NM_207361.6(FREM2):c.6272C>T (p.Ala2091Val)	rs374178459	0.00006
NM_212482.4(FN1):c.4801C>T (p.Pro1601Ser)	rs532827189	0.00006
NM_000052.7(ATP7A):c.1721C>T (p.Thr574Met)	rs782076879	0.00005
NM_000052.7(ATP7A):c.4312G>A (p.Val1438Ile)	rs782682493	0.00005
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn)	rs199510538	0.00005
NM_001081.4(CUBN):c.1558C>T (p.Arg520Trp)	rs564637804	0.00005
NM_001081.4(CUBN):c.5189C>T (p.Thr1730Met)	rs201958183	0.00005
NM_001166108.2(PALLD):c.229G>C (p.Glu77Gln)	rs376732578	0.00005
NM_001204.7(BMPR2):c.1677T>A (p.Thr559=)	rs748684688	0.00005
NM_001283009.2(RTEL1):c.2308G>A (p.Gly770Arg)	rs537754916	0.00005
NM_001283009.2(RTEL1):c.3745G>A (p.Ala1249Thr)	rs201237264	0.00005
NM_001291867.2(NHS):c.152C>T (p.Ala51Val)	rs727504039	0.00005
NM_001374736.1(DST):c.20975A>G (p.Asn6992Ser)	rs780386919	0.00005
NM_001374736.1(DST):c.2860-4G>C	rs370134977	0.00005
NM_002334.4(LRP4):c.4898C>T (p.Ser1633Leu)	rs146362081	0.00005
NM_004370.6(COL12A1):c.2968G>T (p.Asp990Tyr)	rs201996851	0.00005
NM_004370.6(COL12A1):c.5959C>T (p.Arg1987Cys)	rs200870100	0.00005
NM_005045.4(RELN):c.3086T>C (p.Ile1029Thr)	rs757915171	0.00005
NM_005045.4(RELN):c.5002A>G (p.Met1668Val)	rs762369288	0.00005
NM_005219.5(DIAPH1):c.2668A>G (p.Met890Val)	rs200251893	0.00005
NM_018979.4(WNK1):c.7138C>T (p.Arg2380Trp)	rs56262445	0.00005
NM_021098.3(CACNA1H):c.1502G>A (p.Gly501Glu)	rs768197900	0.00005
NM_021098.3(CACNA1H):c.1768C>T (p.Arg590Trp)	rs199920661	0.00005
NM_021098.3(CACNA1H):c.3449G>A (p.Arg1150His)	rs373762102	0.00005
NM_021098.3(CACNA1H):c.6578C>T (p.Ser2193Leu)	rs748432349	0.00005
NM_021098.3(CACNA1H):c.740T>G (p.Val247Gly)	rs200939989	0.00005
NM_022089.4(ATP13A2):c.1202G>A (p.Cys401Tyr)	rs377186549	0.00005
NM_022489.4(INF2):c.1587C>T (p.Pro529=)	rs755649066	0.00005
NM_000168.6(GLI3):c.3611C>G (p.Pro1204Arg)	rs543636524	0.00004
NM_000336.3(SCNN1B):c.1900G>C (p.Asp634His)	rs776613953	0.00004
NM_001001557.4(GDF6):c.725C>G (p.Ala242Gly)	rs886043381	0.00004
NM_001081.4(CUBN):c.2203G>A (p.Val735Ile)	rs370770104	0.00004
NM_001081.4(CUBN):c.6822-6C>T	rs762758607	0.00004
NM_001122955.4(BSCL2):c.359A>G (p.Tyr120Cys)	rs370905417	0.00004
NM_001174147.2(LMX1B):c.874C>T (p.Arg292Trp)	rs560914000	0.00004
NM_001202.6(BMP4):c.863G>A (p.Arg288Gln)	rs370847935	0.00004
NM_001203.3(BMPR1B):c.1105A>G (p.Asn369Asp)	rs778257341	0.00004
NM_001203.3(BMPR1B):c.43A>G (p.Lys15Glu)	rs1346115955	0.00004
NM_001283009.2(RTEL1):c.2191C>T (p.His731Tyr)	rs149063501	0.00004
NM_001283009.2(RTEL1):c.2428G>A (p.Gly810Arg)	rs545613984	0.00004
NM_001283009.2(RTEL1):c.2999C>T (p.Thr1000Met)	rs201560152	0.00004
NM_001283009.2(RTEL1):c.3437C>T (p.Pro1146Leu)	rs749331637	0.00004
NM_001370466.1(NOD2):c.1894G>A (p.Val632Met)	rs570167996	0.00004
NM_001379081.2(FREM1):c.3094G>A (p.Val1032Met)	rs544959201	0.00004
NM_002049.4(GATA1):c.1067G>A (p.Gly356Asp)	rs202091014	0.00004
NM_003900.5(SQSTM1):c.548G>A (p.Arg183His)	rs535606152	0.00004
NM_004370.6(COL12A1):c.2569C>G (p.Gln857Glu)	rs201662983	0.00004
NM_004370.6(COL12A1):c.2603C>T (p.Thr868Met)	rs572007088	0.00004
NM_004370.6(COL12A1):c.3782G>A (p.Ser1261Asn)	rs370339027	0.00004
NM_004370.6(COL12A1):c.5138A>G (p.Asn1713Ser)	rs373020081	0.00004
NM_004370.6(COL12A1):c.6878A>G (p.Lys2293Arg)	rs1053454286	0.00004
NM_004370.6(COL12A1):c.794G>A (p.Arg265His)	rs778155362	0.00004
NM_004370.6(COL12A1):c.856C>G (p.Gln286Glu)	rs369360559	0.00004
NM_004370.6(COL12A1):c.9187G>A (p.Gly3063Ser)	rs746453262	0.00004
NM_004380.3(CREBBP):c.2598G>T (p.Met866Ile)	rs771016864	0.00004
NM_005045.4(RELN):c.1690C>A (p.Leu564Ile)	rs748901010	0.00004
NM_005045.4(RELN):c.6169C>G (p.Leu2057Val)	rs764185528	0.00004
NM_005045.4(RELN):c.7339C>G (p.Pro2447Ala)	rs371476408	0.00004
NM_006662.3(SRCAP):c.62C>T (p.Ser21Leu)	rs183497403	0.00004
NM_006662.3(SRCAP):c.9497A>T (p.Glu3166Val)	rs530672259	0.00004
NM_015662.3(IFT172):c.3268G>A (p.Val1090Met)	rs76076247	0.00004
NM_018238.4(AGK):c.55C>T (p.Leu19Phe)	rs367844999	0.00004
NM_018979.4(WNK1):c.2266C>G (p.Gln756Glu)	rs768622577	0.00004
NM_018979.4(WNK1):c.4135A>G (p.Thr1379Ala)	rs758763241	0.00004
NM_018979.4(WNK1):c.473G>C (p.Ser158Thr)	rs920732487	0.00004
NM_020458.4(TTC7A):c.1603A>T (p.Ile535Phe)	rs749071692	0.00004
NM_021098.3(CACNA1H):c.1046C>T (p.Ser349Leu)	rs756026742	0.00004
NM_021098.3(CACNA1H):c.1609C>T (p.Arg537Cys)	rs528341556	0.00004
NM_021098.3(CACNA1H):c.1895C>A (p.Pro632His)	rs747807971	0.00004
NM_021098.3(CACNA1H):c.1985A>G (p.His662Arg)	rs768565046	0.00004
NM_021098.3(CACNA1H):c.2183A>G (p.Tyr728Cys)	rs371324992	0.00004
NM_021098.3(CACNA1H):c.3338C>T (p.Pro1113Leu)	rs753159318	0.00004
NM_021098.3(CACNA1H):c.3526G>A (p.Asp1176Asn)	rs61294616	0.00004
NM_021098.3(CACNA1H):c.3604C>T (p.Arg1202Trp)	rs372472186	0.00004
NM_021098.3(CACNA1H):c.3709G>A (p.Glu1237Lys)	rs973149799	0.00004
NM_021098.3(CACNA1H):c.3721G>A (p.Glu1241Lys)	rs201993286	0.00004
NM_021098.3(CACNA1H):c.3806G>A (p.Arg1269His)	rs749122105	0.00004
NM_021098.3(CACNA1H):c.4224G>A (p.Arg1408=)	rs771972820	0.00004
NM_021098.3(CACNA1H):c.5209G>A (p.Ala1737Thr)	rs61372944	0.00004
NM_021098.3(CACNA1H):c.6245G>A (p.Arg2082Gln)	rs772785163	0.00004
NM_021098.3(CACNA1H):c.6526G>A (p.Glu2176Lys)	rs768826048	0.00004
NM_021098.3(CACNA1H):c.764T>G (p.Leu255Arg)	rs369329819	0.00004
NM_022089.4(ATP13A2):c.2407G>A (p.Val803Ile)	rs747785443	0.00004
NM_022089.4(ATP13A2):c.2558G>A (p.Arg853His)	rs745954026	0.00004
NM_022089.4(ATP13A2):c.2640C>T (p.Ala880=)	rs567287489	0.00004
NM_022089.4(ATP13A2):c.2746G>A (p.Val916Met)	rs768674400	0.00004
NM_022089.4(ATP13A2):c.407C>T (p.Ala136Val)	rs562519835	0.00004
NM_022489.4(INF2):c.2084G>A (p.Arg695Gln)	rs372333024	0.00004
NM_022489.4(INF2):c.2101G>A (p.Ala701Thr)	rs772557416	0.00004
NM_022489.4(INF2):c.2204G>A (p.Arg735Gln)	rs375390523	0.00004
NM_022489.4(INF2):c.2857C>T (p.Arg953Trp)	rs942393807	0.00004
NM_022489.4(INF2):c.3133C>T (p.Arg1045Trp)	rs780428043	0.00004
NM_024426.6(WT1):c.513C>A (p.Gly171=)	rs536728682	0.00004
NM_024426.6(WT1):c.925A>G (p.Met309Val)	rs754336808	0.00004
NM_025132.4(WDR19):c.2362G>A (p.Ala788Thr)	rs768082694	0.00004
NM_032415.7(CARD11):c.3112G>A (p.Ala1038Thr)	rs199916182	0.00004
NM_152419.3(HGSNAT):c.277G>T (p.Ala93Ser)	rs368452647	0.00004
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg)	rs760977747	0.00004
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)	rs765648513	0.00004
NM_212482.4(FN1):c.2717C>T (p.Thr906Ile)	rs370342980	0.00004
NM_213720.3(CHCHD10):c.196G>A (p.Gly66Ser)	rs374211312	0.00004
NM_000044.6(AR):c.2659A>G (p.Met887Val)	rs755226547	0.00003
NM_000052.7(ATP7A):c.1427C>T (p.Thr476Ile)	rs782702847	0.00003
NM_000052.7(ATP7A):c.1561G>A (p.Val521Met)	rs139902461	0.00003
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser)	rs782774219	0.00003
NM_000052.7(ATP7A):c.844A>G (p.Ile282Val)	rs782237314	0.00003
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter)	rs771781694	0.00003
NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln)	rs774971794	0.00003
NM_000377.3(WAS):c.1388C>T (p.Ser463Leu)	rs782636781	0.00003
NM_000414.4(HSD17B4):c.1628G>A (p.Arg543His)	rs201009485	0.00003
NM_001081.4(CUBN):c.736G>A (p.Val246Ile)	rs760990753	0.00003
NM_001145358.2(SIN3A):c.2783G>A (p.Arg928Gln)	rs367989965	0.00003
NM_001330078.2(NRXN1):c.600C>T (p.Gly200=)	rs201481698	0.00003
NM_001365536.1(SCN9A):c.829C>A (p.Arg277=)	rs121908916	0.00003
NM_001374736.1(DST):c.16609-1G>T	rs766657292	0.00003
NM_001972.4(ELANE):c.21C>T (p.Leu7=)	rs200666143	0.00003
NM_001972.4(ELANE):c.502G>A (p.Val168Ile)	rs201313263	0.00003
NM_002609.4(PDGFRB):c.164C>T (p.Ser55Leu)	rs147952898	0.00003
NM_004370.6(COL12A1):c.2374G>A (p.Val792Ile)	rs375704787	0.00003
NM_004370.6(COL12A1):c.3383G>A (p.Arg1128Lys)	rs373637483	0.00003
NM_004370.6(COL12A1):c.4196G>A (p.Arg1399His)	rs200125060	0.00003
NM_004370.6(COL12A1):c.4616C>T (p.Thr1539Met)	rs373216375	0.00003
NM_004370.6(COL12A1):c.4781G>A (p.Arg1594His)	rs373006852	0.00003
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=)	rs200287696	0.00003
NM_004380.3(CREBBP):c.6071C>T (p.Ala2024Val)	rs745551441	0.00003
NM_005045.4(RELN):c.6079G>A (p.Val2027Ile)	rs753782715	0.00003
NM_005045.4(RELN):c.850G>A (p.Val284Met)	rs149397714	0.00003
NM_005045.4(RELN):c.8692A>G (p.Ser2898Gly)	rs773262289	0.00003
NM_005045.4(RELN):c.8839G>A (p.Ala2947Thr)	rs141307064	0.00003
NM_005461.5(MAFB):c.294G>C (p.Glu98Asp)	rs374174345	0.00003
NM_005476.7(GNE):c.1907C>T (p.Ala636Val)	rs756488394	0.00003
NM_005982.4(SIX1):c.191G>A (p.Arg64His)	rs1051653507	0.00003
NM_006662.3(SRCAP):c.4588A>G (p.Thr1530Ala)	rs181190579	0.00003
NM_006662.3(SRCAP):c.8989A>G (p.Thr2997Ala)	rs138111804	0.00003
NM_015910.7(WDPCP):c.691A>G (p.Ile231Val)	rs769180655	0.00003
NM_018979.4(WNK1):c.3935G>A (p.Arg1312His)	rs375565845	0.00003
NM_021098.3(CACNA1H):c.1284G>T (p.Arg428=)	rs771004922	0.00003
NM_021098.3(CACNA1H):c.2228C>T (p.Thr743Met)	rs574809183	0.00003
NM_021098.3(CACNA1H):c.2995A>G (p.Met999Val)	rs774136809	0.00003
NM_021098.3(CACNA1H):c.3101C>T (p.Thr1034Met)	rs371500703	0.00003
NM_021098.3(CACNA1H):c.3199G>C (p.Glu1067Gln)	rs751148760	0.00003
NM_021098.3(CACNA1H):c.3263C>T (p.Pro1088Leu)	rs373190026	0.00003
NM_021098.3(CACNA1H):c.3388G>A (p.Ala1130Thr)	rs772745734	0.00003
NM_021098.3(CACNA1H):c.6038T>C (p.Leu2013Pro)	rs905456471	0.00003
NM_021098.3(CACNA1H):c.6295G>A (p.Glu2099Lys)	rs774769004	0.00003
NM_021098.3(CACNA1H):c.6662C>T (p.Pro2221Leu)	rs765757800	0.00003
NM_021098.3(CACNA1H):c.6748C>T (p.Arg2250Cys)	rs375586314	0.00003
NM_021098.3(CACNA1H):c.6770G>A (p.Arg2257Gln)	rs775972605	0.00003
NM_021098.3(CACNA1H):c.993C>A (p.Gly331=)	rs770821118	0.00003
NM_022089.4(ATP13A2):c.1688G>A (p.Arg563Gln)	rs541385523	0.00003
NM_022089.4(ATP13A2):c.3501C>T (p.Ala1167=)	rs781135190	0.00003
NM_022168.4(IFIH1):c.2305-2A>G	rs199696786	0.00003
NM_022489.4(INF2):c.2310C>T (p.Tyr770=)	rs758454108	0.00003
NM_022489.4(INF2):c.2555G>A (p.Arg852Gln)	rs372129830	0.00003
NM_022489.4(INF2):c.2804C>T (p.Ala935Val)	rs781494318	0.00003
NM_022489.4(INF2):c.2992G>A (p.Gly998Arg)	rs747569209	0.00003
NM_022489.4(INF2):c.3520G>A (p.Glu1174Lys)	rs755527335	0.00003
NM_022489.4(INF2):c.580G>A (p.Val194Met)	rs368298329	0.00003
NM_024426.6(WT1):c.1124G>A (p.Arg375His)	rs554416372	0.00003
NM_024426.6(WT1):c.1154G>A (p.Arg385Gln)	rs147241955	0.00003
NM_025114.4(CEP290):c.6523-6T>C	rs794727692	0.00003
NM_032415.7(CARD11):c.1606C>G (p.Pro536Ala)	rs770294938	0.00003
NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly)	rs781668118	0.00003
NM_213599.3(ANO5):c.44A>G (p.Glu15Gly)	rs886042647	0.00003
NM_000052.7(ATP7A):c.15G>A (p.Met5Ile)	rs781952393	0.00002
NM_000052.7(ATP7A):c.2725G>A (p.Ala909Thr)	rs146119866	0.00002
NM_000052.7(ATP7A):c.3434C>T (p.Ala1145Val)	rs374154862	0.00002
NM_000052.7(ATP7A):c.3533A>G (p.Tyr1178Cys)	rs1557238006	0.00002
NM_000052.7(ATP7A):c.3736A>G (p.Met1246Val)	rs1385333276	0.00002
NM_000052.7(ATP7A):c.3775A>G (p.Lys1259Glu)	rs782428979	0.00002
NM_000052.7(ATP7A):c.4352G>A (p.Gly1451Asp)	rs782232632	0.00002
NM_000064.4(C3):c.1685C>T (p.Ser562Leu)	rs200541526	0.00002
NM_000092.5(COL4A4):c.2752G>A (p.Gly918Arg)	rs372606845	0.00002
NM_000334.4(SCN4A):c.2500G>A (p.Gly834Ser)	rs899627353	0.00002
NM_000377.3(WAS):c.1049C>T (p.Ala350Val)	rs1307143057	0.00002
NM_000414.4(HSD17B4):c.109G>A (p.Val37Ile)	rs747214551	0.00002
NM_000414.4(HSD17B4):c.1278A>T (p.Glu426Asp)	rs780820166	0.00002
NM_000503.6(EYA1):c.107C>T (p.Thr36Ile)	rs727503048	0.00002
NM_001001557.4(GDF6):c.959C>G (p.Pro320Arg)	rs888138096	0.00002
NM_001283009.2(RTEL1):c.1661A>G (p.Tyr554Cys)	rs1046172136	0.00002
NM_001283009.2(RTEL1):c.890C>T (p.Pro297Leu)	rs748022323	0.00002
NM_001365536.1(SCN9A):c.2496A>C (p.Ser832=)	rs200185692	0.00002
NM_001370466.1(NOD2):c.1340A>G (p.Gln447Arg)	rs367819045	0.00002
NM_001370466.1(NOD2):c.2767A>C (p.Met923Leu)	rs527892258	0.00002
NM_001972.4(ELANE):c.347A>G (p.Asn116Ser)	rs1196145112	0.00002
NM_002473.6(MYH9):c.5431G>A (p.Ala1811Thr)	rs1302814429	0.00002
NM_003900.5(SQSTM1):c.734C>T (p.Ala245Val)	rs762767720	0.00002
NM_004048.4(B2M):c.278C>A (p.Thr93Asn)	rs778103494	0.00002
NM_004370.6(COL12A1):c.1988A>G (p.His663Arg)	rs764241362	0.00002
NM_004370.6(COL12A1):c.19C>G (p.Pro7Ala)	rs755046298	0.00002
NM_004370.6(COL12A1):c.2473C>G (p.Pro825Ala)	rs770324764	0.00002
NM_004370.6(COL12A1):c.2633A>G (p.Gln878Arg)	rs761818931	0.00002
NM_004370.6(COL12A1):c.2653G>A (p.Ala885Thr)	rs373583477	0.00002
NM_004370.6(COL12A1):c.4280G>A (p.Arg1427His)	rs1033545876	0.00002
NM_004370.6(COL12A1):c.43G>T (p.Ala15Ser)	rs1453508139	0.00002
NM_004370.6(COL12A1):c.4402G>A (p.Gly1468Arg)	rs771110521	0.00002
NM_004370.6(COL12A1):c.5180T>G (p.Ile1727Ser)	rs752550335	0.00002
NM_004370.6(COL12A1):c.6394T>C (p.Phe2132Leu)	rs769755656	0.00002
NM_004370.6(COL12A1):c.7472A>G (p.Lys2491Arg)	rs199633490	0.00002
NM_004370.6(COL12A1):c.8714G>A (p.Arg2905Gln)	rs759065663	0.00002
NM_004380.3(CREBBP):c.7040C>T (p.Ala2347Val)	rs182347573	0.00002
NM_005045.4(RELN):c.10025C>T (p.Thr3342Met)	rs201703640	0.00002
NM_005045.4(RELN):c.1936C>T (p.Arg646Trp)	rs115831287	0.00002
NM_005045.4(RELN):c.3287A>G (p.Gln1096Arg)	rs780325204	0.00002
NM_005045.4(RELN):c.3952C>G (p.Pro1318Ala)	rs140090640	0.00002
NM_005045.4(RELN):c.6106G>A (p.Ala2036Thr)	rs371614773	0.00002
NM_005045.4(RELN):c.8181T>G (p.Asp2727Glu)	rs778861276	0.00002
NM_005219.5(DIAPH1):c.65G>A (p.Ser22Asn)	rs1474809251	0.00002
NM_006662.3(SRCAP):c.5518C>T (p.Arg1840Trp)	rs531238169	0.00002
NM_018668.5(VPS33B):c.1225+5G>C	rs398122407	0.00002
NM_018979.4(WNK1):c.4823C>T (p.Ala1608Val)	rs781667314	0.00002
NM_020937.4(FANCM):c.2968G>A (p.Val990Ile)	rs772477865	0.00002
NM_020937.4(FANCM):c.5066C>T (p.Ala1689Val)	rs759068569	0.00002
NM_021098.3(CACNA1H):c.1144G>A (p.Asp382Asn)	rs375121203	0.00002
NM_021098.3(CACNA1H):c.1390G>A (p.Val464Met)	rs61910721	0.00002
NM_021098.3(CACNA1H):c.1421G>A (p.Arg474His)	rs769636919	0.00002
NM_021098.3(CACNA1H):c.1744A>G (p.Ile582Val)	rs757893642	0.00002
NM_021098.3(CACNA1H):c.2150C>T (p.Ser717Leu)	rs768306211	0.00002
NM_021098.3(CACNA1H):c.2173C>T (p.Arg725Cys)	rs764438301	0.00002
NM_021098.3(CACNA1H):c.3185C>T (p.Pro1062Leu)	rs1245328322	0.00002
NM_021098.3(CACNA1H):c.3467G>A (p.Arg1156His)	rs369475886	0.00002
NM_021098.3(CACNA1H):c.3553G>A (p.Ala1185Thr)	rs375742212	0.00002
NM_021098.3(CACNA1H):c.3646G>A (p.Asp1216Asn)	rs754581272	0.00002
NM_021098.3(CACNA1H):c.3659A>G (p.Gln1220Arg)	rs763161866	0.00002
NM_021098.3(CACNA1H):c.4022C>T (p.Ala1341Val)	rs371030255	0.00002
NM_021098.3(CACNA1H):c.563T>C (p.Leu188Ser)	rs767275498	0.00002
NM_021098.3(CACNA1H):c.6346G>A (p.Glu2116Lys)	rs768078771	0.00002
NM_021098.3(CACNA1H):c.6398G>A (p.Arg2133His)	rs752385455	0.00002
NM_021098.3(CACNA1H):c.6652C>T (p.Arg2218Cys)	rs761083620	0.00002
NM_021098.3(CACNA1H):c.6809C>T (p.Pro2270Leu)	rs778943919	0.00002
NM_021098.3(CACNA1H):c.6838C>T (p.Pro2280Ser)	rs760918600	0.00002
NM_021098.3(CACNA1H):c.6964C>T (p.Arg2322Trp)	rs987712309	0.00002
NM_021625.5(TRPV4):c.1376T>G (p.Leu459Arg)	rs201132615	0.00002
NM_022489.4(INF2):c.1208A>G (p.Glu403Gly)	rs1356183663	0.00002
NM_022489.4(INF2):c.1316C>T (p.Pro439Leu)	rs1375222598	0.00002
NM_022489.4(INF2):c.1405A>G (p.Met469Val)	rs1461056808	0.00002
NM_022489.4(INF2):c.1615G>A (p.Val539Met)	rs769014945	0.00002
NM_022489.4(INF2):c.1811G>A (p.Arg604Gln)	rs752971046	0.00002
NM_022489.4(INF2):c.2005G>A (p.Val669Met)	rs756038490	0.00002
NM_022489.4(INF2):c.2572G>A (p.Val858Met)	rs201292830	0.00002
NM_022489.4(INF2):c.3080C>T (p.Thr1027Met)	rs760488958	0.00002
NM_022489.4(INF2):c.3704_3705del (p.Pro1235fs)	rs763988639	0.00002
NM_024426.6(WT1):c.406C>A (p.Pro136Thr)	rs748045691	0.00002
NM_024426.6(WT1):c.586G>A (p.Gly196Ser)	rs756501972	0.00002
NM_024426.6(WT1):c.628T>G (p.Cys210Gly)	rs776426005	0.00002
NM_024426.6(WT1):c.806C>G (p.Pro269Arg)	rs756078681	0.00002
NM_024426.6(WT1):c.887+4G>A	rs778673400	0.00002
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)	rs752362727	0.00002
NM_206933.4(USH2A):c.10517C>T (p.Thr3506Met)	rs397517966	0.00002
NM_212482.4(FN1):c.587T>A (p.Val196Glu)	rs758442993	0.00002
NM_213599.3(ANO5):c.53A>G (p.Asn18Ser)	rs1010958758	0.00002
NM_213655.5(WNK1):c.2233G>A (p.Ala745Thr)	rs763686798	0.00002
NM_000052.7(ATP7A):c.1327A>G (p.Thr443Ala)	rs1227094533	0.00001
NM_000052.7(ATP7A):c.1574C>G (p.Ala525Gly)	rs368355216	0.00001
NM_000052.7(ATP7A):c.1907G>A (p.Arg636Gln)	rs1557234412	0.00001
NM_000052.7(ATP7A):c.1947-5A>G	rs1557234466	0.00001
NM_000052.7(ATP7A):c.2108G>A (p.Arg703His)	rs2234936	0.00001
NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys)	rs782006661	0.00001
NM_000052.7(ATP7A):c.2287A>G (p.Ile763Val)	rs2077837721	0.00001
NM_000052.7(ATP7A):c.3595G>A (p.Val1199Ile)	rs782026169	0.00001
NM_000052.7(ATP7A):c.368G>A (p.Arg123Lys)	rs782664232	0.00001
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp)	rs370736173	0.00001
NM_000052.7(ATP7A):c.415A>T (p.Ile139Leu)	rs1557231629	0.00001
NM_000052.7(ATP7A):c.4363C>T (p.Arg1455Trp)	rs1457236338	0.00001
NM_000052.7(ATP7A):c.4448A>C (p.Asp1483Ala)	rs782799150	0.00001
NM_000052.7(ATP7A):c.83A>T (p.Gln28Leu)	rs782146244	0.00001
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser)	rs778886174	0.00001
NM_000092.5(COL4A4):c.410G>A (p.Gly137Asp)	rs377511303	0.00001
NM_000124.4(ERCC6):c.1398-2A>G	rs1317145066	0.00001
NM_000146.4(FTL):c.362G>A (p.Arg121His)	rs769449169	0.00001
NM_000263.4(NAGLU):c.1991C>T (p.Ala664Val)	rs746006696	0.00001
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)	rs1052471595	0.00001
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys)	rs766199971	0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His)	rs121913495	0.00001
NM_000944.5(PPP3CA):c.1538A>G (p.Asn513Ser)	rs199874915	0.00001
NM_001008212.2(OPTN):c.447G>A (p.Arg149=)	rs555741399	0.00001
NM_001008216.2(GALE):c.658C>T (p.Arg220Trp)	rs764909409	0.00001
NM_001018113.3(FANCB):c.800C>T (p.Ser267Leu)	rs374217132	0.00001
NM_001081.4(CUBN):c.3932G>A (p.Arg1311Gln)	rs1037514591	0.00001
NM_001081.4(CUBN):c.4907G>T (p.Arg1636Leu)	rs538984401	0.00001
NM_001110556.2(FLNA):c.5533C>T (p.Arg1845Cys)	rs782307604	0.00001
NM_001110556.2(FLNA):c.7453G>A (p.Val2485Ile)	rs782190081	0.00001
NM_001122955.4(BSCL2):c.1004A>C (p.Gln335Pro)	rs779199750	0.00001
NM_001122955.4(BSCL2):c.466A>G (p.Thr156Ala)	rs137930278	0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)	rs201553266	0.00001
NM_001170535.3(ATAD3A):c.750G>A (p.Thr250=)	rs371490361	0.00001
NM_001174147.2(LMX1B):c.535G>A (p.Val179Met)	rs181422024	0.00001
NM_001202.6(BMP4):c.118G>A (p.Gly40Ser)	rs749083527	0.00001
NM_001203.3(BMPR1B):c.896A>G (p.Lys299Arg)	rs773095683	0.00001
NM_001283009.2(RTEL1):c.1346G>A (p.Arg449Gln)	rs779873020	0.00001
NM_001283009.2(RTEL1):c.2483G>A (p.Arg828Gln)	rs774640608	0.00001
NM_001283009.2(RTEL1):c.3038C>T (p.Ala1013Val)	rs569586118	0.00001
NM_001283009.2(RTEL1):c.3184G>A (p.Ala1062Thr)	rs773397014	0.00001
NM_001330260.2(SCN8A):c.5479A>G (p.Ile1827Val)	rs764115258	0.00001
NM_001365536.1(SCN9A):c.1347T>C (p.Ser449=)	rs201990547	0.00001
NM_001365536.1(SCN9A):c.1713C>T (p.Ala571=)	rs200876333	0.00001
NM_001374736.1(DST):c.17894A>C (p.Glu5965Ala)	rs753007435	0.00001
NM_001374736.1(DST):c.1872T>G (p.Ser624=)	rs994026153	0.00001
NM_001374736.1(DST):c.19415A>G (p.Lys6472Arg)	rs904996327	0.00001
NM_001382.4(DPAGT1):c.1037A>G (p.His346Arg)	rs1301940016	0.00001
NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp)	rs772988029	0.00001
NM_001972.4(ELANE):c.22G>A (p.Ala8Thr)	rs759486889	0.00001
NM_001972.4(ELANE):c.662G>T (p.Gly221Val)	rs756112245	0.00001
NM_002049.4(GATA1):c.283G>A (p.Gly95Ser)	rs782790256	0.00001
NM_002334.4(LRP4):c.1175C>T (p.Thr392Met)	rs776484311	0.00001
NM_002335.4(LRP5):c.1484G>A (p.Arg495His)	rs200409162	0.00001
NM_002582.4(PARN):c.1067A>G (p.Asn356Ser)	rs757655633	0.00001
NM_002609.4(PDGFRB):c.2588C>A (p.Thr863Asn)	rs750896639	0.00001
NM_004370.6(COL12A1):c.118A>G (p.Thr40Ala)	rs201343487	0.00001
NM_004370.6(COL12A1):c.1301G>A (p.Gly434Asp)	rs759184281	0.00001
NM_004370.6(COL12A1):c.1678C>A (p.Pro560Thr)	rs775466928	0.00001
NM_004370.6(COL12A1):c.2396G>A (p.Gly799Glu)	rs772979149	0.00001
NM_004370.6(COL12A1):c.3670C>T (p.Arg1224Cys)	rs748277540	0.00001
NM_004370.6(COL12A1):c.3856C>T (p.Arg1286Cys)	rs764448554	0.00001
NM_004370.6(COL12A1):c.4010A>G (p.Asn1337Ser)	rs1187079906	0.00001
NM_004370.6(COL12A1):c.5510G>A (p.Gly1837Glu)	rs757825778	0.00001
NM_004370.6(COL12A1):c.5614C>T (p.Arg1872Cys)	rs773807635	0.00001
NM_004370.6(COL12A1):c.7813A>C (p.Lys2605Gln)	rs200751269	0.00001
NM_004370.6(COL12A1):c.8812C>T (p.Arg2938Cys)	rs778941390	0.00001
NM_004370.6(COL12A1):c.8857G>T (p.Ala2953Ser)	rs201760746	0.00001
NM_005045.4(RELN):c.1696T>A (p.Ser566Thr)	rs200058688	0.00001
NM_005045.4(RELN):c.1796G>A (p.Arg599His)	rs201371180	0.00001
NM_005045.4(RELN):c.2313G>T (p.Gln771His)	rs777581847	0.00001
NM_005045.4(RELN):c.4441A>G (p.Lys1481Glu)	rs896069835	0.00001
NM_005045.4(RELN):c.4457A>G (p.Asn1486Ser)	rs202161592	0.00001
NM_005045.4(RELN):c.4481G>A (p.Arg1494Gln)	rs540271067	0.00001
NM_005045.4(RELN):c.4907A>G (p.Asp1636Gly)	rs587780439	0.00001
NM_005045.4(RELN):c.5300G>A (p.Gly1767Glu)	rs766384576	0.00001
NM_005045.4(RELN):c.589A>G (p.Ser197Gly)	rs756193988	0.00001
NM_005045.4(RELN):c.6164T>C (p.Leu2055Pro)	rs1190177632	0.00001
NM_005045.4(RELN):c.9016A>C (p.Ile3006Leu)	rs755660948	0.00001
NM_005045.4(RELN):c.9281A>G (p.Tyr3094Cys)	rs750252271	0.00001
NM_005219.5(DIAPH1):c.2773G>A (p.Val925Met)	rs773243948	0.00001
NM_005219.5(DIAPH1):c.545C>A (p.Thr182Lys)	rs746125273	0.00001
NM_006662.3(SRCAP):c.1611G>C (p.Gln537His)	rs771334638	0.00001
NM_006662.3(SRCAP):c.3050C>T (p.Ala1017Val)	rs767714019	0.00001
NM_015662.3(IFT172):c.1444G>A (p.Val482Ile)	rs771104054	0.00001
NM_015662.3(IFT172):c.1628G>A (p.Arg543Gln)	rs755926439	0.00001
NM_015662.3(IFT172):c.3368A>G (p.Asn1123Ser)	rs146615936	0.00001
NM_015662.3(IFT172):c.59C>T (p.Thr20Ile)	rs751486617	0.00001
NM_015910.7(WDPCP):c.655G>A (p.Gly219Ser)	rs761312526	0.00001
NM_015910.7(WDPCP):c.677A>T (p.Glu226Val)	rs774816454	0.00001
NM_017613.4(DONSON):c.1282C>T (p.Gln428Ter)	rs993687029	0.00001
NM_017654.4(SAMD9):c.2944C>T (p.Arg982Cys)	rs1247438528	0.00001
NM_018668.5(VPS33B):c.239+5G>A	rs372769808	0.00001
NM_018979.4(WNK1):c.397G>A (p.Val133Ile)	rs753342253	0.00001
NM_018979.4(WNK1):c.4270A>G (p.Ile1424Val)	rs752331641	0.00001
NM_018979.4(WNK1):c.5584-5A>G	rs771801197	0.00001
NM_020937.4(FANCM):c.5152G>A (p.Val1718Met)	rs371629950	0.00001
NM_021098.3(CACNA1H):c.1607C>T (p.Pro536Leu)	rs1481524583	0.00001
NM_021098.3(CACNA1H):c.1633G>A (p.Ala545Thr)	rs902030420	0.00001
NM_021098.3(CACNA1H):c.1684C>G (p.Pro562Ala)	rs1474486162	0.00001
NM_021098.3(CACNA1H):c.1705G>A (p.Ala569Thr)	rs752986607	0.00001
NM_021098.3(CACNA1H):c.1730A>G (p.His577Arg)	rs1318871844	0.00001
NM_021098.3(CACNA1H):c.1765G>A (p.Ala589Thr)	rs769240762	0.00001
NM_021098.3(CACNA1H):c.1783G>A (p.Ala595Thr)	rs544916201	0.00001
NM_021098.3(CACNA1H):c.1913G>T (p.Gly638Val)	rs771036445	0.00001
NM_021098.3(CACNA1H):c.2192C>T (p.Thr731Met)	rs779476529	0.00001
NM_021098.3(CACNA1H):c.3314G>A (p.Arg1105His)	rs764071122	0.00001
NM_021098.3(CACNA1H):c.3347G>A (p.Gly1116Glu)	rs757299200	0.00001
NM_021098.3(CACNA1H):c.3445G>A (p.Gly1149Ser)	rs753696656	0.00001
NM_021098.3(CACNA1H):c.3559G>A (p.Gly1187Arg)	rs772258959	0.00001
NM_021098.3(CACNA1H):c.3563C>T (p.Pro1188Leu)	rs894257173	0.00001
NM_021098.3(CACNA1H):c.3580C>T (p.Arg1194Trp)	rs1399681066	0.00001
NM_021098.3(CACNA1H):c.4804G>A (p.Asp1602Asn)	rs201296407	0.00001
NM_021098.3(CACNA1H):c.5695C>T (p.Pro1899Ser)	rs367594144	0.00001
NM_021098.3(CACNA1H):c.5696C>T (p.Pro1899Leu)	rs750475467	0.00001
NM_021098.3(CACNA1H):c.5777C>T (p.Ser1926Leu)	rs756181994	0.00001
NM_021098.3(CACNA1H):c.5779C>A (p.Leu1927Met)	rs754166849	0.00001
NM_021098.3(CACNA1H):c.5797A>G (p.Met1933Val)	rs59950911	0.00001
NM_021098.3(CACNA1H):c.5816C>T (p.Pro1939Leu)	rs769441475	0.00001
NM_021098.3(CACNA1H):c.6004G>C (p.Gly2002Arg)	rs1357838162	0.00001
NM_021098.3(CACNA1H):c.6157G>C (p.Gly2053Arg)	rs754154177	0.00001
NM_021098.3(CACNA1H):c.6340A>G (p.Thr2114Ala)	rs1025586071	0.00001
NM_021098.3(CACNA1H):c.6474G>A (p.Ala2158=)	rs747394862	0.00001
NM_021098.3(CACNA1H):c.6542C>T (p.Ala2181Val)	rs776161185	0.00001
NM_021098.3(CACNA1H):c.6672G>C (p.Glu2224Asp)	rs764354954	0.00001
NM_021098.3(CACNA1H):c.6709G>C (p.Gly2237Arg)	rs899655295	0.00001
NM_021098.3(CACNA1H):c.6787G>A (p.Val2263Ile)	rs750732485	0.00001
NM_021098.3(CACNA1H):c.6928C>T (p.Pro2310Ser)	rs778466215	0.00001
NM_021098.3(CACNA1H):c.7058T>A (p.Val2353Glu)	rs990512900	0.00001
NM_021098.3(CACNA1H):c.884G>A (p.Arg295Gln)	rs749305814	0.00001
NM_021098.3(CACNA1H):c.947C>T (p.Thr316Ile)	rs997846742	0.00001
NM_022089.4(ATP13A2):c.1314C>A (p.Leu438=)	rs764435162	0.00001
NM_022089.4(ATP13A2):c.1870G>A (p.Val624Ile)	rs368423685	0.00001
NM_022089.4(ATP13A2):c.2995G>A (p.Val999Met)	rs764162255	0.00001
NM_022489.4(INF2):c.1067C>T (p.Ala356Val)	rs375622503	0.00001
NM_022489.4(INF2):c.1097A>G (p.Gln366Arg)	rs747903915	0.00001
NM_022489.4(INF2):c.1189G>A (p.Val397Met)	rs771775245	0.00001
NM_022489.4(INF2):c.1792G>A (p.Asp598Asn)	rs368948089	0.00001
NM_022489.4(INF2):c.2390G>A (p.Arg797His)	rs200261709	0.00001
NM_022489.4(INF2):c.2578G>A (p.Glu860Lys)	rs376094545	0.00001
NM_022489.4(INF2):c.2602C>T (p.Arg868Cys)	rs757230162	0.00001
NM_022489.4(INF2):c.2776-5T>C	rs1442200771	0.00001
NM_022489.4(INF2):c.3041-4C>T	rs945997134	0.00001
NM_022489.4(INF2):c.3061G>A (p.Gly1021Arg)	rs762689516	0.00001
NM_022489.4(INF2):c.3224G>A (p.Arg1075His)	rs370169829	0.00001
NM_022489.4(INF2):c.3356A>C (p.Asn1119Thr)	rs200246759	0.00001
NM_022489.4(INF2):c.3535A>G (p.Thr1179Ala)	rs778879482	0.00001
NM_022489.4(INF2):c.3737G>C (p.Cys1246Ser)	rs555680535	0.00001
NM_022489.4(INF2):c.409G>A (p.Val137Met)	rs200713451	0.00001
NM_022489.4(INF2):c.509C>T (p.Thr170Met)	rs767698763	0.00001
NM_022489.4(INF2):c.651G>A (p.Leu217=)	rs780516674	0.00001
NM_022489.4(INF2):c.733C>G (p.Leu245Val)	rs765986755	0.00001
NM_022489.4(INF2):c.787T>G (p.Ser263Ala)	rs1364540701	0.00001
NM_022489.4(INF2):c.839A>G (p.His280Arg)	rs759115381	0.00001
NM_024426.6(WT1):c.1104A>T (p.Arg368Ser)	rs544966826	0.00001
NM_024426.6(WT1):c.1117G>A (p.Val373Met)	rs747377024	0.00001
NM_024426.6(WT1):c.1562C>T (p.Ala521Val)	rs749266841	0.00001
NM_024426.6(WT1):c.34A>C (p.Thr12Pro)	rs764111950	0.00001
NM_024426.6(WT1):c.440A>G (p.Gln147Arg)	rs764552529	0.00001
NM_024426.6(WT1):c.832C>G (p.Pro278Ala)	rs773527284	0.00001
NM_024678.6(NARS2):c.506T>A (p.Phe169Tyr)	rs144653284	0.00001
NM_025114.4(CEP290):c.10A>G (p.Asn4Asp)	rs997653455	0.00001
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile)	rs764963626	0.00001
NM_025132.4(WDR19):c.1248T>C (p.Asn416=)	rs772867899	0.00001
NM_032415.7(CARD11):c.2537T>C (p.Leu846Pro)	rs201141941	0.00001
NM_032415.7(CARD11):c.3130G>T (p.Ala1044Ser)	rs751861897	0.00001
NM_032415.7(CARD11):c.715A>G (p.Met239Val)	rs541337893	0.00001
NM_080680.3(COL11A2):c.2179G>A (p.Gly727Arg)	rs768569721	0.00001
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys)	rs121908284	0.00001
NM_212482.4(FN1):c.5735G>A (p.Arg1912His)	rs775421803	0.00001
NM_213599.3(ANO5):c.2185G>A (p.Val729Ile)	rs778772732	0.00001
NM_213655.5(WNK1):c.2464A>G (p.Ile822Val)	rs751787202	0.00001
NM_213720.3(CHCHD10):c.214G>A (p.Ala72Thr)	rs542541060	0.00001
NM_000021.4(PSEN1):c.843G>C (p.Thr281=)	rs186495252
NM_000044.6(AR):c.1235C>A (p.Ala412Glu)
NM_000044.6(AR):c.161TGC[5] (p.Leu57dup)	rs752055010
NM_000044.6(AR):c.171GCA[32] (p.Gln72_Gln80dup)	rs3032358
NM_000044.6(AR):c.2017A>G (p.Ile673Val)
NM_000052.7(ATP7A):c.121-2del	rs1287511385
NM_000052.7(ATP7A):c.1618C>G (p.Pro540Ala)
NM_000052.7(ATP7A):c.1835T>G (p.Ile612Ser)	rs1569549840
NM_000052.7(ATP7A):c.1856T>C (p.Ile619Thr)	rs1569549841
NM_000052.7(ATP7A):c.1857C>G (p.Ile619Met)
NM_000052.7(ATP7A):c.2251G>A (p.Val751Met)
NM_000052.7(ATP7A):c.2464A>G (p.Ile822Val)
NM_000052.7(ATP7A):c.281C>T (p.Ala94Val)
NM_000052.7(ATP7A):c.3116A>G (p.Lys1039Arg)
NM_000052.7(ATP7A):c.3358A>C (p.Ser1120Arg)
NM_000052.7(ATP7A):c.4267C>T (p.Arg1423Trp)	rs149079962
NM_000052.7(ATP7A):c.56G>A (p.Cys19Tyr)
NM_000089.4(COL1A2):c.1576G>A (p.Gly526Arg)	rs72658129
NM_000089.4(COL1A2):c.2965_2973dup (p.Pro989_Gly991dup)	rs1554398396
NM_000089.4(COL1A2):c.596G>A (p.Gly199Asp)	rs1554395833
NM_000091.5(COL4A3):c.1217G>A (p.Arg406Gln)
NM_000091.5(COL4A3):c.1670G>A (p.Gly557Glu)
NM_000091.5(COL4A3):c.2497G>A (p.Gly833Ser)	rs2072039168
NM_000091.5(COL4A3):c.2657-1G>A
NM_000091.5(COL4A3):c.3016G>A (p.Gly1006Arg)
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1])	rs756539994
NM_000091.5(COL4A3):c.3722G>A (p.Arg1241His)
NM_000092.5(COL4A4):c.2447G>A (p.Gly816Glu)
NM_000092.5(COL4A4):c.3018A>T (p.Arg1006Ser)	rs531161419
NM_000092.5(COL4A4):c.3120C>A (p.Phe1040Leu)
NM_000092.5(COL4A4):c.3506-13_3528del	rs2149993330
NM_000092.5(COL4A4):c.4953G>A (p.Trp1651Ter)	rs1408907127
NM_000092.5(COL4A4):c.544G>A (p.Val182Ile)
NM_000094.4(COL7A1):c.4271G>A (p.Gly1424Glu)
NM_000168.6(GLI3):c.3035G>T (p.Gly1012Val)
NM_000263.4(NAGLU):c.112C>T (p.Arg38Trp)
NM_000263.4(NAGLU):c.1541G>A (p.Arg514His)
NM_000263.4(NAGLU):c.235G>A (p.Gly79Ser)
NM_000325.6(PITX2):c.344G>A (p.Arg115His)	rs104893862
NM_000334.4(SCN4A):c.1173del (p.Phe392fs)	rs1235665641
NM_000377.3(WAS):c.638G>A (p.Arg213His)
NM_000377.3(WAS):c.765G>C (p.Gln255His)
NM_000414.4(HSD17B4):c.1901G>A (p.Arg634His)
NM_000414.4(HSD17B4):c.67C>T (p.Arg23Ter)	rs765702241
NM_000475.5(NR0B1):c.1033C>A (p.Pro345Thr)
NM_000475.5(NR0B1):c.1219A>G (p.Thr407Ala)
NM_000494.4(COL17A1):c.340del (p.Ser114fs)
NM_000944.5(PPP3CA):c.844G>A (p.Glu282Lys)	rs1553923787
NM_001001557.4(GDF6):c.219C>A (p.Asp73Glu)
NM_001001557.4(GDF6):c.536C>A (p.Pro179Gln)	rs1444302456
NM_001008212.2(OPTN):c.402C>A (p.Ala134=)	rs113955718
NM_001008212.2(OPTN):c.589C>A (p.His197Asn)
NM_001008212.2(OPTN):c.703C>T (p.Gln235Ter)
NM_001017420.3(ESCO2):c.569A>G (p.Asn190Ser)
NM_001018113.3(FANCB):c.1105-26TATT[4]	rs398123537
NM_001038.6(SCNN1A):c.1168G>A (p.Asp390Asn)
NM_001081.4(CUBN):c.10835G>A (p.Arg3612Gln)
NM_001081.4(CUBN):c.1427A>G (p.Glu476Gly)
NM_001081.4(CUBN):c.2866A>G (p.Ile956Val)
NM_001081.4(CUBN):c.2870A>G (p.Asn957Ser)
NM_001081.4(CUBN):c.2886A>G (p.Ile962Met)
NM_001081.4(CUBN):c.3173C>T (p.Thr1058Ile)
NM_001081.4(CUBN):c.4366G>A (p.Asp1456Asn)
NM_001081.4(CUBN):c.4838G>T (p.Arg1613Leu)
NM_001081.4(CUBN):c.5078G>A (p.Arg1693Gln)
NM_001081.4(CUBN):c.5285T>G (p.Val1762Gly)	rs149164899
NM_001081.4(CUBN):c.6145C>G (p.Gln2049Glu)
NM_001081.4(CUBN):c.6364G>A (p.Val2122Ile)
NM_001081.4(CUBN):c.9001G>A (p.Asp3001Asn)
NM_001083962.2(TCF4):c.1733G>A (p.Arg578His)	rs121909123
NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1])	rs747175358
NM_001127644.2(GABRA1):c.146T>A (p.Leu49His)
NM_001164508.2(NEB):c.24579G>A (p.Ser8193=)	rs202048855
NM_001170535.3(ATAD3A):c.1588A>G (p.Ile530Val)
NM_001170535.3(ATAD3A):c.283-45G>A
NM_001171.6(ABCC6):c.869G>A (p.Arg290Gln)
NM_001202.6(BMP4):c.1099A>C (p.Ser367Arg)
NM_001203.3(BMPR1B):c.1394A>G (p.Gln465Arg)
NM_001204.7(BMPR2):c.1037C>A (p.Thr346Asn)	rs757926043
NM_001204.7(BMPR2):c.1285G>A (p.Val429Ile)
NM_001283009.2(RTEL1):c.1266+3_1266+80del	rs2090574236
NM_001283009.2(RTEL1):c.1672A>G (p.Ile558Val)
NM_001283009.2(RTEL1):c.2040G>T (p.Gln680His)
NM_001283009.2(RTEL1):c.2210A>G (p.Asn737Ser)
NM_001283009.2(RTEL1):c.2840A>G (p.Asn947Ser)	rs761268803
NM_001283009.2(RTEL1):c.2966G>A (p.Arg989Gln)
NM_001283009.2(RTEL1):c.2990C>G (p.Thr997Ser)	rs1046295138
NM_001283009.2(RTEL1):c.3005C>T (p.Pro1002Leu)
NM_001283009.2(RTEL1):c.302-19C>A
NM_001283009.2(RTEL1):c.3286C>G (p.Leu1096Val)
NM_001283009.2(RTEL1):c.3342C>A (p.His1114Gln)
NM_001283009.2(RTEL1):c.3412C>A (p.Arg1138=)	rs6062495
NM_001283009.2(RTEL1):c.3871G>A (p.Val1291Ile)
NM_001283009.2(RTEL1):c.394C>A (p.Arg132=)
NM_001283009.2(RTEL1):c.664A>G (p.Ile222Val)	rs1235107432
NM_001283009.2(RTEL1):c.957G>A (p.Lys319=)
NM_001291303.3(FAT4):c.6772G>A (p.Val2258Ile)
NM_001365276.2(TNXB):c.1878del (p.His626fs)	rs1554334255
NM_001370466.1(NOD2):c.2586A>C (p.Gln862His)	rs764244331
NM_001370466.1(NOD2):c.383T>A (p.Leu128Gln)
NM_001370466.1(NOD2):c.725C>T (p.Pro242Leu)
NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser)	rs530255181
NM_001374736.1(DST):c.14311-6T>G
NM_001374736.1(DST):c.14441-7_14441-6del	rs773495985
NM_001374736.1(DST):c.21598G>A (p.Val7200Ile)	rs760700573
NM_001374736.1(DST):c.23195-6C>T
NM_001374736.1(DST):c.23348G>C (p.Arg7783Thr)
NM_001374736.1(DST):c.2965-6T>C	rs2098828864
NM_001375524.1(TRRAP):c.9952A>G (p.Met3318Val)	rs1793524609
NM_001376571.1(MADD):c.2851A>G (p.Ser951Gly)
NM_001379081.2(FREM1):c.1540G>A (p.Val514Ile)
NM_001379081.2(FREM1):c.5603C>T (p.Thr1868Ile)
NM_001379081.2(FREM1):c.5801G>A (p.Arg1934His)
NM_001734.5(C1S):c.1198G>C (p.Glu400Gln)	rs150549869
NM_001853.4(COL9A3):c.1928C>T (p.Pro643Leu)	rs2147235760
NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val)	rs750291363
NM_001940.4(ATN1):c.2782C>T (p.Pro928Ser)
NM_001972.4(ELANE):c.533C>T (p.Thr178Met)
NM_001972.4(ELANE):c.606C>T (p.Ser202=)	rs17216649
NM_001972.4(ELANE):c.779C>T (p.Pro260Leu)
NM_002049.4(GATA1):c.196G>A (p.Ala66Thr)
NM_002049.4(GATA1):c.364G>A (p.Glu122Lys)
NM_002335.4(LRP5):c.2779G>A (p.Gly927Ser)	rs764138752
NM_002582.4(PARN):c.293A>G (p.Asn98Ser)
NM_002609.4(PDGFRB):c.1106C>T (p.Thr369Met)
NM_002609.4(PDGFRB):c.1360C>T (p.Leu454Phe)
NM_002609.4(PDGFRB):c.1399G>A (p.Gly467Arg)
NM_002609.4(PDGFRB):c.1438G>A (p.Val480Met)
NM_002609.4(PDGFRB):c.1487G>A (p.Arg496His)
NM_002609.4(PDGFRB):c.1553C>T (p.Thr518Met)
NM_002609.4(PDGFRB):c.1696T>C (p.Trp566Arg)	rs1060499542
NM_002609.4(PDGFRB):c.176C>T (p.Pro59Leu)	rs202213873
NM_002609.4(PDGFRB):c.1996A>C (p.Asn666His)	rs797044887
NM_002609.4(PDGFRB):c.2122C>T (p.Arg708Cys)
NM_002609.4(PDGFRB):c.2129C>T (p.Pro710Leu)
NM_002609.4(PDGFRB):c.2281G>A (p.Val761Ile)
NM_002609.4(PDGFRB):c.2791G>A (p.Asp931Asn)
NM_002609.4(PDGFRB):c.2971C>T (p.Arg991Cys)
NM_002609.4(PDGFRB):c.3181G>A (p.Asp1061Asn)
NM_002609.4(PDGFRB):c.3275C>T (p.Ser1092Leu)
NM_002609.4(PDGFRB):c.338G>A (p.Arg113Gln)
NM_002609.4(PDGFRB):c.342A>C (p.Lys114Asn)
NM_002609.4(PDGFRB):c.373G>A (p.Val125Met)
NM_002609.4(PDGFRB):c.542G>C (p.Gly181Ala)
NM_002609.4(PDGFRB):c.5G>A (p.Arg2Gln)
NM_002609.4(PDGFRB):c.844G>A (p.Glu282Lys)
NM_002609.4(PDGFRB):c.938G>A (p.Ser313Asn)
NM_002609.4(PDGFRB):c.971C>T (p.Thr324Ile)
NM_003070.5(SMARCA2):c.221A>G (p.His74Arg)
NM_003070.5(SMARCA2):c.669GCA[16] (p.Gln238_Pro239insGlnGlnGln)	rs113070757
NM_003466.4(PAX8):c.704C>T (p.Pro235Leu)	rs200737496
NM_003632.3(CNTNAP1):c.3239C>T (p.Thr1080Met)
NM_003839.4(TNFRSF11A):c.637G>A (p.Gly213Ser)	rs766330561
NM_003900.5(SQSTM1):c.1166-14_1166-11del	rs538853972
NM_003900.5(SQSTM1):c.1207T>A (p.Ser403Thr)
NM_004370.6(COL12A1):c.1037C>T (p.Ser346Phe)
NM_004370.6(COL12A1):c.1619A>G (p.Asn540Ser)
NM_004370.6(COL12A1):c.1694G>A (p.Arg565Lys)
NM_004370.6(COL12A1):c.3161G>A (p.Arg1054Gln)	rs577784031
NM_004370.6(COL12A1):c.3466A>C (p.Asn1156His)	rs764153192
NM_004370.6(COL12A1):c.4334A>G (p.Lys1445Arg)
NM_004370.6(COL12A1):c.4564C>T (p.Arg1522Cys)	rs574863380
NM_004370.6(COL12A1):c.4616C>A (p.Thr1539Lys)	rs373216375
NM_004370.6(COL12A1):c.4650C>G (p.His1550Gln)	rs754993978
NM_004370.6(COL12A1):c.4679G>A (p.Arg1560Gln)
NM_004370.6(COL12A1):c.5207A>G (p.Asp1736Gly)	rs762021815
NM_004370.6(COL12A1):c.5858G>A (p.Arg1953His)
NM_004370.6(COL12A1):c.6067+1G>A	rs1766265062
NM_004370.6(COL12A1):c.6125C>T (p.Ser2042Leu)
NM_004370.6(COL12A1):c.634T>C (p.Tyr212His)	rs1424010902
NM_004370.6(COL12A1):c.7817C>T (p.Pro2606Leu)
NM_004370.6(COL12A1):c.8608C>G (p.Pro2870Ala)
NM_004370.6(COL12A1):c.9143A>C (p.Gln3048Pro)
NM_004380.3(CREBBP):c.235G>A (p.Gly79Ser)
NM_004380.3(CREBBP):c.2495C>A (p.Pro832His)
NM_004380.3(CREBBP):c.2810C>T (p.Pro937Leu)
NM_004380.3(CREBBP):c.3370-4del	rs75459669
NM_004380.3(CREBBP):c.3370-5_3370-4del	rs75459669
NM_004380.3(CREBBP):c.6542A>G (p.Asn2181Ser)
NM_004380.3(CREBBP):c.6594GCA[3] (p.Gln2215_Gln2216del)	rs746121736
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=)	rs142545779
NM_004380.3(CREBBP):c.6636GCA[5] (p.Gln2216_Gly2217insGln)
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu)	rs146887252
NM_004465.2(FGF10):c.64T>C (p.Cys22Arg)
NM_004484.4(GPC3):c.338-5del	rs370737647
NM_004560.4(ROR2):c.154G>A (p.Gly52Ser)
NM_004752.4(GCM2):c.22G>A (p.Glu8Lys)
NM_004820.5(CYP7B1):c.788T>G (p.Val263Gly)
NM_005045.4(RELN):c.10251A>C (p.Gln3417His)
NM_005045.4(RELN):c.1379A>C (p.Lys460Thr)	rs779530655
NM_005045.4(RELN):c.1789C>T (p.His597Tyr)	rs779014769
NM_005045.4(RELN):c.1883A>T (p.Asn628Ile)
NM_005045.4(RELN):c.3745A>G (p.Met1249Val)	rs148751867
NM_005045.4(RELN):c.3829A>G (p.Met1277Val)	rs555946635
NM_005045.4(RELN):c.4933A>T (p.Ile1645Leu)
NM_005045.4(RELN):c.5006G>C (p.Ser1669Thr)
NM_005045.4(RELN):c.5360G>A (p.Arg1787Gln)	rs372887562
NM_005045.4(RELN):c.6146C>T (p.Ala2049Val)	rs374232523
NM_005045.4(RELN):c.7369C>T (p.Arg2457Cys)
NM_005045.4(RELN):c.8077G>A (p.Gly2693Arg)
NM_005045.4(RELN):c.820C>T (p.Arg274Cys)
NM_005045.4(RELN):c.8812G>A (p.Val2938Ile)
NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del)	rs762015967
NM_005045.4(RELN):c.9628C>G (p.Gln3210Glu)
NM_005045.4(RELN):c.9730G>C (p.Gly3244Arg)	rs73714410
NM_005219.5(DIAPH1):c.1821TCC[14] (p.Pro618_Pro620dup)	rs3075570
NM_005219.5(DIAPH1):c.1821TCC[16] (p.Pro616_Pro620dup)	rs3075570
NM_005219.5(DIAPH1):c.2030C>A (p.Pro677Gln)	rs761912885
NM_005360.5(MAF):c.678CGG[9] (p.Gly238dup)	rs887468453
NM_005360.5(MAF):c.916C>G (p.Arg306Gly)	rs1913781557
NM_005476.7(GNE):c.1660C>T (p.His554Tyr)
NM_006662.3(SRCAP):c.1165C>T (p.Arg389Cys)
NM_006662.3(SRCAP):c.1313G>A (p.Arg438Gln)
NM_006662.3(SRCAP):c.1531C>T (p.His511Tyr)
NM_006662.3(SRCAP):c.224G>C (p.Ser75Thr)
NM_006662.3(SRCAP):c.6940C>T (p.Arg2314Cys)
NM_006662.3(SRCAP):c.7286G>A (p.Cys2429Tyr)
NM_006662.3(SRCAP):c.8963C>T (p.Thr2988Ile)
NM_006662.3(SRCAP):c.977G>T (p.Arg326Leu)
NM_006766.5(KAT6A):c.4968_4982dup (p.Gln1657_Pro1661dup)	rs750049486
NM_014704.4(CEP104):c.1144C>G (p.Arg382Gly)
NM_014704.4(CEP104):c.2246A>C (p.Tyr749Ser)
NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2])	rs746697405
NM_015910.7(WDPCP):c.2068T>C (p.Ser690Pro)
NM_016356.5(DCDC2):c.543C>A (p.Ser181Arg)	rs141060456
NM_018238.4(AGK):c.788A>G (p.Asn263Ser)
NM_018238.4(AGK):c.971C>T (p.Pro324Leu)
NM_018669.6(WDR4):c.266G>A (p.Arg89His)
NM_018979.4(WNK1):c.2119G>A (p.Val707Ile)	rs761380468
NM_018979.4(WNK1):c.4605_4607del (p.Ser1536del)	rs72650732
NM_018979.4(WNK1):c.5448+1G>T
NM_018979.4(WNK1):c.5491A>G (p.Thr1831Ala)
NM_020436.5(SALL4):c.2233C>T (p.Arg745Cys)
NM_020436.5(SALL4):c.514G>C (p.Ala172Pro)
NM_020458.4(TTC7A):c.437G>T (p.Arg146Leu)	rs61746139
NM_020738.4(KIDINS220):c.346C>T (p.Arg116Cys)
NM_020738.4(KIDINS220):c.4835C>A (p.Ala1612Glu)
NM_020738.4(KIDINS220):c.517C>T (p.Pro173Ser)
NM_020937.4(FANCM):c.6010T>A (p.Ser2004Thr)	rs760258217
NM_021098.3(CACNA1H):c.1300C>T (p.Arg434Trp)
NM_021098.3(CACNA1H):c.13G>A (p.Ala5Thr)	rs948561024
NM_021098.3(CACNA1H):c.1535C>T (p.Ala512Val)
NM_021098.3(CACNA1H):c.1736A>G (p.Asp579Gly)
NM_021098.3(CACNA1H):c.1745T>C (p.Ile582Thr)
NM_021098.3(CACNA1H):c.1835A>C (p.Asn612Thr)	rs773099504
NM_021098.3(CACNA1H):c.1918C>G (p.Pro640Ala)
NM_021098.3(CACNA1H):c.2216G>T (p.Arg739Leu)	rs372759314
NM_021098.3(CACNA1H):c.2342C>A (p.Thr781Asn)	rs200687647
NM_021098.3(CACNA1H):c.2342C>T (p.Thr781Ile)	rs200687647
NM_021098.3(CACNA1H):c.3091G>A (p.Glu1031Lys)	rs548097951
NM_021098.3(CACNA1H):c.3097A>G (p.Lys1033Glu)
NM_021098.3(CACNA1H):c.3129C>G (p.His1043Gln)
NM_021098.3(CACNA1H):c.3218C>G (p.Ser1073Cys)	rs369474500
NM_021098.3(CACNA1H):c.3757C>T (p.Arg1253Cys)	rs372000875
NM_021098.3(CACNA1H):c.3758G>A (p.Arg1253His)	rs534632699
NM_021098.3(CACNA1H):c.3758G>T (p.Arg1253Leu)
NM_021098.3(CACNA1H):c.3884T>C (p.Met1295Thr)	rs755717160
NM_021098.3(CACNA1H):c.4135A>G (p.Ile1379Val)
NM_021098.3(CACNA1H):c.4408A>G (p.Lys1470Glu)
NM_021098.3(CACNA1H):c.4772G>A (p.Ser1591Asn)
NM_021098.3(CACNA1H):c.4820G>A (p.Arg1607His)	rs377532485
NM_021098.3(CACNA1H):c.5062A>G (p.Ile1688Val)
NM_021098.3(CACNA1H):c.5723C>T (p.Ala1908Val)
NM_021098.3(CACNA1H):c.5750G>A (p.Arg1917His)
NM_021098.3(CACNA1H):c.5875G>A (p.Gly1959Ser)
NM_021098.3(CACNA1H):c.5974G>A (p.Gly1992Ser)	rs558813483
NM_021098.3(CACNA1H):c.5983C>T (p.Leu1995Phe)	rs549364922
NM_021098.3(CACNA1H):c.6002G>A (p.Arg2001Gln)	rs200399120
NM_021098.3(CACNA1H):c.6088A>G (p.Ser2030Gly)	rs748236037
NM_021098.3(CACNA1H):c.6281C>G (p.Ser2094Trp)	rs371550084
NM_021098.3(CACNA1H):c.6281C>T (p.Ser2094Leu)	rs371550084
NM_021098.3(CACNA1H):c.6290C>A (p.Ala2097Asp)
NM_021098.3(CACNA1H):c.6297G>C (p.Glu2099Asp)
NM_021098.3(CACNA1H):c.6492G>C (p.Glu2164Asp)
NM_021098.3(CACNA1H):c.6643A>G (p.Thr2215Ala)
NM_021098.3(CACNA1H):c.6692C>T (p.Ser2231Phe)	rs746267333
NM_021098.3(CACNA1H):c.6724G>A (p.Gly2242Arg)	rs776025785
NM_021098.3(CACNA1H):c.6860G>A (p.Ser2287Asn)
NM_021098.3(CACNA1H):c.6887C>T (p.Ser2296Phe)
NM_021098.3(CACNA1H):c.6914C>T (p.Pro2305Leu)
NM_021098.3(CACNA1H):c.6994C>T (p.Pro2332Ser)
NM_021098.3(CACNA1H):c.7037G>C (p.Gly2346Ala)	rs765057432
NM_021098.3(CACNA1H):c.941C>G (p.Pro314Arg)
NM_021098.3(CACNA1H):c.982G>A (p.Glu328Lys)
NM_021625.5(TRPV4):c.2012T>C (p.Leu671Pro)
NM_022042.4(SLC26A1):c.16G>C (p.Glu6Gln)
NM_022089.4(ATP13A2):c.1195+5G>A
NM_022089.4(ATP13A2):c.1947C>G (p.Pro649=)	rs369722835
NM_022089.4(ATP13A2):c.2151C>T (p.Ser717=)	rs544545629
NM_022089.4(ATP13A2):c.2326G>A (p.Val776Ile)	rs56170027
NM_022089.4(ATP13A2):c.2965C>T (p.Arg989Trp)
NM_022089.4(ATP13A2):c.3271G>A (p.Val1091Ile)
NM_022089.4(ATP13A2):c.3343G>A (p.Gly1115Ser)	rs145674970
NM_022089.4(ATP13A2):c.3503_3516dup (p.Pro1173fs)	rs779637529
NM_022089.4(ATP13A2):c.498C>T (p.Tyr166=)
NM_022089.4(ATP13A2):c.589G>A (p.Val197Ile)
NM_022489.4(INF2):c.1262CACCCC[1] (p.Pro423_Pro428del)	rs573567814
NM_022489.4(INF2):c.144C>T (p.Val48=)	rs528508846
NM_022489.4(INF2):c.1582C>G (p.Pro528Ala)	rs181694819
NM_022489.4(INF2):c.1582C>T (p.Pro528Ser)	rs181694819
NM_022489.4(INF2):c.1774G>A (p.Ala592Thr)	rs530285485
NM_022489.4(INF2):c.1865G>C (p.Arg622Pro)
NM_022489.4(INF2):c.2065C>T (p.Arg689Trp)
NM_022489.4(INF2):c.2087C>T (p.Ala696Val)
NM_022489.4(INF2):c.2100C>A (p.Ser700Arg)	rs377281840
NM_022489.4(INF2):c.2419-5T>C
NM_022489.4(INF2):c.2517G>A (p.Glu839=)	rs561061092
NM_022489.4(INF2):c.271C>G (p.Arg91Gly)	rs200247054
NM_022489.4(INF2):c.2764C>T (p.Arg922Cys)
NM_022489.4(INF2):c.2789G>A (p.Arg930Gln)
NM_022489.4(INF2):c.2834C>T (p.Ala945Val)
NM_022489.4(INF2):c.3154G>A (p.Ala1052Thr)
NM_022489.4(INF2):c.3166G>A (p.Gly1056Ser)
NM_022489.4(INF2):c.3257T>C (p.Leu1086Pro)	rs368869709
NM_022489.4(INF2):c.3519C>G (p.Asp1173Glu)	rs767075044
NM_022489.4(INF2):c.3519CGAGGA[1] (p.1171DE[2])	rs748373029
NM_022489.4(INF2):c.3568G>A (p.Asp1190Asn)
NM_022489.4(INF2):c.3598G>A (p.Asp1200Asn)	rs764338863
NM_022489.4(INF2):c.3673C>G (p.Arg1225Gly)
NM_022489.4(INF2):c.3674G>A (p.Arg1225His)
NM_022489.4(INF2):c.3740_3741del (p.Val1247fs)	rs753327806
NM_022489.4(INF2):c.466G>A (p.Glu156Lys)
NM_022489.4(INF2):c.653G>A (p.Arg218Gln)	rs267607183
NM_022489.4(INF2):c.685G>A (p.Val229Ile)	rs752058170
NM_022489.4(INF2):c.917G>A (p.Arg306His)
NM_023110.3(FGFR1):c.1343G>A (p.Arg448Gln)	rs758138124
NM_024079.5(ALG8):c.309dup (p.Leu104fs)
NM_024426.6(WT1):c.1141C>T (p.Pro381Ser)
NM_024426.6(WT1):c.259G>A (p.Ala87Thr)	rs752686863
NM_024426.6(WT1):c.543C>T (p.Arg181=)	rs369870529
NM_024426.6(WT1):c.569C>T (p.Pro190Leu)	rs757349907
NM_024426.6(WT1):c.674T>C (p.Val225Ala)
NM_024426.6(WT1):c.677C>A (p.Thr226Asn)	rs556804456
NM_024426.6(WT1):c.695G>C (p.Ser232Thr)	rs761913397
NM_024426.6(WT1):c.760C>A (p.Pro254Thr)	rs2234584
NM_024426.6(WT1):c.764T>A (p.Met255Lys)	rs377573993
NM_024426.6(WT1):c.825C>G (p.Cys275Trp)	rs200222400
NM_024426.6(WT1):c.854G>A (p.Ser285Asn)	rs779813097
NM_032119.4(ADGRV1):c.8488C>G (p.Leu2830Val)	rs555466095
NM_032415.7(CARD11):c.1328A>G (p.Asn443Ser)
NM_032415.7(CARD11):c.1600G>A (p.Ala534Thr)
NM_032415.7(CARD11):c.1979G>A (p.Arg660Gln)
NM_032415.7(CARD11):c.2231G>A (p.Ser744Asn)
NM_032415.7(CARD11):c.3277C>T (p.Pro1093Ser)
NM_032415.7(CARD11):c.358+1G>A	rs2115090359
NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu)	rs1064794957
NM_152419.3(HGSNAT):c.6C>A (p.Ser2Arg)
NM_173689.7(CRB2):c.952G>A (p.Gly318Ser)	rs759937525
NM_206933.4(USH2A):c.14698C>T (p.Gln4900Ter)	rs1553250072
NM_207361.6(FREM2):c.2129G>A (p.Arg710His)
NM_207361.6(FREM2):c.2900A>G (p.Asn967Ser)
NM_207361.6(FREM2):c.437C>G (p.Pro146Arg)
NM_207361.6(FREM2):c.5611G>A (p.Ala1871Thr)
NM_207361.6(FREM2):c.5749G>A (p.Val1917Ile)
NM_207361.6(FREM2):c.9407G>A (p.Arg3136Lys)
NM_212482.4(FN1):c.1436G>T (p.Arg479Leu)	rs761729774
NM_212482.4(FN1):c.2866A>G (p.Ile956Val)
NM_212482.4(FN1):c.3047G>C (p.Arg1016Thr)
NM_212482.4(FN1):c.3091G>A (p.Val1031Met)
NM_212482.4(FN1):c.3182A>C (p.Glu1061Ala)
NM_212482.4(FN1):c.4012G>A (p.Val1338Ile)
NM_212482.4(FN1):c.6479T>C (p.Ile2160Thr)
NM_212482.4(FN1):c.6581C>T (p.Pro2194Leu)
NM_213599.3(ANO5):c.13G>A (p.Asp5Asn)
NM_213599.3(ANO5):c.2237C>A (p.Ala746Asp)	rs886042907
NM_213655.5(WNK1):c.2172dup (p.Pro725fs)	rs910119961
NM_213655.5(WNK1):c.2228_2229dup (p.Thr744fs)	rs1307515994
NM_213720.3(CHCHD10):c.276T>A (p.Ala92=)	rs1252496774
NM_213720.3(CHCHD10):c.42-5C>T	rs868345557