ClinVar Miner

Variants with conflicting interpretations studied for Inborn genetic diseases

Coded as:
Minimum review status of the submission for Inborn genetic diseases: Collection method of the submission for Inborn genetic diseases:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

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
151816 2434 0 192 718 1 17 921

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 11 2 0 0 0
likely pathogenic 16 0 1 0 0 0
uncertain significance 6 10 0 362 123 0
likely benign 0 0 229 0 136 0
benign 0 0 5 29 0 1

Condition to condition summary #

Total conditions: 128
Download table as spreadsheet
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 93 0 14 122 0 0 136
Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E 0 101 0 39 63 0 0 98
Ullrich congenital muscular dystrophy 2; Bethlem myopathy 2 0 53 0 0 57 0 1 58
Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 0 59 0 2 56 0 0 57
Kufor-Rakeb syndrome; Autosomal recessive spastic paraplegia type 78 0 122 0 17 35 0 0 52
Menkes kinky-hair syndrome; Cutis laxa, X-linked; X-linked distal spinal muscular atrophy type 3 0 61 0 15 39 0 0 52
Neuropathy, hereditary sensory and autonomic, type 2A; Pseudohypoaldosteronism type 2C 0 137 0 10 34 0 0 44
Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency 0 276 0 6 23 0 1 30
Developmental and epileptic encephalopathy, 1; Autosomal dominant nonsyndromic hearing loss 65; Caused by mutation in the TBC1 domain family, member 24 0 69 0 12 13 0 4 29
Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 0 154 0 16 12 0 1 29
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 14 0 5 16 0 0 21
Channelopathy-associated congenital insensitivity to pain, autosomal recessive 0 22 0 0 17 0 0 17
Autosomal dominant nonsyndromic hearing loss 1; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 0 31 0 2 13 0 0 15
Rubinstein-Taybi syndrome due to CREBBP mutations; Menke-Hennekam syndrome 1 0 37 0 10 2 0 0 12
Floating-Harbor syndrome; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities 0 4 0 0 11 0 0 11
Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71 0 63 0 3 8 0 0 11
Blau syndrome; Regional enteritis 0 22 0 1 9 0 0 10
Imerslund-Grasbeck syndrome type 1 0 23 0 0 9 0 0 9
Imerslund-Grasbeck syndrome type 1; Proteinuria, chronic benign 0 32 0 0 9 0 0 9
Severe combined immunodeficiency due to CARD11 deficiency; BENTA disease 0 8 0 1 8 0 0 9
Multiple gastrointestinal atresias 0 40 0 0 8 0 0 8
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 0 16 0 1 6 0 0 7
Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 0 78 0 1 5 0 1 7
Lower motor neuron syndrome with late-adult onset; Frontotemporal dementia and/or amyotrophic lateral sclerosis 2; Autosomal dominant mitochondrial myopathy with exercise intolerance 0 13 0 2 4 0 1 7
Mucopolysaccharidosis, MPS-III-B; Charcot-Marie-Tooth disease axonal type 2V 0 15 0 2 2 0 2 6
Primary open angle glaucoma; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E 0 37 0 3 2 0 1 6
Type A2 brachydactyly; Acromesomelic dysplasia 3 0 10 0 0 6 0 0 6
Androgen resistance syndrome; Kennedy disease 0 0 0 1 3 0 1 5
Migraine, familial hemiplegic, 3; Severe myoclonic epilepsy in infancy; Generalized epilepsy with febrile seizures plus, type 2 0 6 0 0 5 0 0 5
Congenital adrenal hypoplasia, X-linked; 46,XY sex reversal 2 0 1 0 0 4 0 0 4
DPAGT1-congenital disorder of glycosylation; Congenital myasthenic syndrome 13 0 7 0 0 3 0 1 4
Fanconi anemia complementation group B; VACTERL association, X-linked, with or without hydrocephalus 0 1 0 1 3 0 0 4
Sengers syndrome; Cataract 38 0 10 0 0 4 0 0 4
Spermatogenic failure 28; Premature ovarian failure 15 0 21 0 0 4 0 0 4
X-linked severe congenital neutropenia; Thrombocytopenia 1; Wiskott-Aldrich syndrome 0 7 0 0 4 0 0 4
Amyotrophic lateral sclerosis type 21 0 10 0 0 3 0 0 3
Cenani-Lenz syndactyly syndrome; Sclerosteosis 2; Congenital myasthenic syndrome 17 0 50 0 0 3 0 0 3
Cyclical neutropenia; Neutropenia, severe congenital, 1, autosomal dominant 0 7 0 0 3 0 0 3
Ehlers-Danlos syndrome, spondylodysplastic type, 2; Spondyloepimetaphyseal dysplasia with joint laxity 0 21 0 1 2 0 0 3
Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; Paget disease of bone 2, early-onset 0 19 0 1 2 0 0 3
Glomerulopathy with fibronectin deposits 2; Spondylometaphyseal dysplasia - Sutcliffe type 0 11 0 0 3 0 0 3
Gnathodiaphyseal dysplasia; Autosomal recessive limb-girdle muscular dystrophy type 2L 0 15 0 0 3 0 0 3
Heart defect - tongue hamartoma - polysyndactyly syndrome; Bardet-Biedl syndrome 15 0 5 0 0 3 0 0 3
Microphthalmia with brain and digit anomalies; Orofacial cleft 11 0 5 0 0 3 0 0 3
Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71; Bardet-Biedl syndrome 20 0 32 0 0 3 0 0 3
Singleton-Merten syndrome 1; Aicardi-Goutieres syndrome 7; Immunodeficiency 95 0 3 0 1 2 0 0 3
Spastic paraplegia, intellectual disability, nystagmus, and obesity; Ventriculomegaly and arthrogryposis 0 1 0 0 3 0 0 3
Autosomal dominant nonsyndromic hearing loss 20; Baraitser-winter syndrome 2 0 4 0 0 2 0 0 2
Autosomal recessive inherited pseudoxanthoma elasticum; Pseudoxanthoma elasticum, forme fruste; Arterial calcification, generalized, of infancy, 2 0 9 0 0 2 0 0 2
Autosomal recessive nonsyndromic hearing loss 66; Isolated neonatal sclerosing cholangitis 0 7 0 0 2 0 0 2
Bardet-Biedl syndrome; McKusick-Kaufman syndrome 0 17 0 0 2 0 0 2
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 23 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 2 0 0 2 0 0 2
COACH syndrome 1; Meckel syndrome, type 6; Joubert syndrome 9 0 1 0 0 2 0 0 2
Cataract 21 multiple types; Ayme-Gripp syndrome 0 3 0 0 2 0 0 2
Congenital generalized lipodystrophy type 2; Hereditary spastic paraplegia 17; Severe neurodegenerative syndrome with lipodystrophy; Neuronopathy, distal hereditary motor, type 5C 0 12 0 0 2 0 0 2
Congenital muscular hypertrophy-cerebral syndrome; Developmental and epileptic encephalopathy, 85, with or without midline brain defects 0 6 0 2 0 0 0 2
DE SANCTIS-CACCHIONE SYNDROME; Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome type 2 0 2 0 1 0 0 1 2
Drash syndrome; Frasier syndrome; Wilms tumor 1; 11p partial monosomy syndrome 0 8 0 0 2 0 0 2
GNE myopathy; Sialuria 0 3 0 0 2 0 0 2
Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polysyndactyly 4; Polydactyly, postaxial, type A1 0 2 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
Inborn genetic diseases 155165 4 0 0 1 0 1 2
Kabuki syndrome 1; Branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome 0 1 0 0 2 0 0 2
Klippel-Feil syndrome 1, autosomal dominant; Isolated microphthalmia 4; Microphthalmia, isolated, with coloboma 6; Leber congenital amaurosis 17 0 10 0 0 2 0 0 2
Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5 0 2 0 0 1 0 1 2
Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 0 27 0 1 1 0 0 2
McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6 0 8 0 1 1 0 0 2
Mucopolysaccharidosis, MPS-III-C; Retinitis pigmentosa 73 0 22 0 1 1 0 0 2
Nance-Horan syndrome; Cataract 40 0 0 0 1 1 0 0 2
Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 0 3 0 2 0 0 0 2
Pancreatic cancer, susceptibility to, 1 0 0 0 0 2 0 0 2
Retinitis pigmentosa 51; Bardet-Biedl syndrome 8 0 4 0 0 2 0 0 2
3-methylglutaconic aciduria, type VIIB; Neutropenia, severe congenital, 9, autosomal dominant; 3-methylglutaconic aciduria, type VIIA 0 0 0 1 0 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
Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3 0 3 0 0 1 0 0 1
Asphyxiating thoracic dystrophy 5; Nephronophthisis 13; Cranioectodermal dysplasia 4; Senior-Loken syndrome 8; Spermatogenic failure 72 0 18 0 0 1 0 0 1
Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 0 8 0 0 1 0 0 1
Bifunctional peroxisomal enzyme deficiency; Perrault syndrome 1 0 2 0 1 0 0 0 1
Blau syndrome; Inflammatory bowel disease 1 0 0 0 0 1 0 0 1
Branchiootic syndrome 1; Branchiootorenal syndrome 1; Otofaciocervical syndrome 1 0 0 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 0 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
Complement component C1s deficiency; Ehlers-Danlos syndrome, periodontal type 2 0 0 0 0 1 0 0 1
Congenital dyserythropoietic anemia, type II; Cowden syndrome 7 0 6 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 2 0 0 1 0 0 1
Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 0 19 0 0 1 0 0 1
Epilepsy, familial temporal lobe, 1; Norman-Roberts syndrome; Familial temporal lobe epilepsy 7 0 20 0 0 1 0 0 1
Epileptic encephalopathy, infantile or early childhood, 1; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development 0 1 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
Familial visceral amyloidosis, Ostertag type; Hypoproteinemia, hypercatabolic 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 5 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
Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3-related early-onset multisystem autoimmune disease 0 0 0 1 0 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 19 0 0 1 0 0 1
IgE responsiveness, atopic; Cryptosporidiosis-chronic cholangitis-liver disease syndrome 0 3 0 0 1 0 0 1
Juvenile myelomonocytic leukemia; CBL-related disorder 0 0 0 1 0 0 0 1
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 0 1 0 0 1
Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 0 0 0 0 0 0 1 1
Meckel syndrome, type 6; Joubert syndrome 9; COACH syndrome 2; Retinitis pigmentosa 93 0 7 0 0 1 0 0 1
Microcephaly-micromelia syndrome; Microcephaly, short stature, and limb abnormalities 0 0 0 1 0 0 0 1
Microphthalmia, isolated, with coloboma 10 0 0 0 1 0 0 0 1
Microphthalmia, isolated, with coloboma 9 0 1 0 0 1 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 1 0 0 1 0 0 1
Mungan syndrome; Cornelia de Lange syndrome 4 0 0 0 0 1 0 0 1
Nemaline myopathy 2; Arthrogryposis multiplex congenita 6 0 8 0 1 0 0 0 1
Nicolaides-Baraitser syndrome; Blepharophimosis-impaired intellectual development syndrome 0 7 0 1 0 0 0 1
Oculotrichoanal syndrome; BNAR syndrome; Trigonocephaly 2 0 12 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 1 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 16 0 0 1 0 0 1
Primary erythromelalgia; Paroxysmal extreme pain disorder; Channelopathy-associated congenital insensitivity to pain, autosomal recessive 0 1 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
Pulmonary hypertension, primary, 1; Pulmonary venoocclusive disease 1 0 4 0 0 1 0 0 1
Stormorken syndrome; Combined immunodeficiency due to STIM1 deficiency; Myopathy with tubular aggregates 0 19 0 0 1 0 0 1
Syndromic X-linked intellectual disability Hedera type; X-linked parkinsonism-spasticity syndrome; Congenital disorder of glycosylation, type IIr 0 0 0 0 1 0 0 1
Treacher Collins syndrome 3; Hypomyelinating leukodystrophy 11 0 1 0 1 0 0 0 1
Usher syndrome type 2A; Retinitis pigmentosa 39 0 8 0 0 1 0 0 1
Usher syndrome type 2C; Febrile seizures, familial, 4 0 15 0 0 1 0 0 1
Van Maldergem syndrome 2; Hennekam lymphangiectasia-lymphedema syndrome 2 0 5 0 0 1 0 0 1
Wilms tumor 1; Simpson-Golabi-Behmel syndrome type 1 0 3 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 921
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.1210-13G>T rs10229820 0.09791
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_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_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_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_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) rs201059992 0.00334
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_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841 0.00324
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_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met) rs61731477 0.00306
NM_015662.3(IFT172):c.2551G>T (p.Val851Leu) rs149748534 0.00304
NM_022489.4(INF2):c.3078C>T (p.Ser1026=) rs377023270 0.00272
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_080605.4(B3GALT6):c.107C>T (p.Pro36Leu) rs568623476 0.00202
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=) rs149371169 0.00200
NM_022089.4(ATP13A2):c.2367C>T (p.Leu789=) rs140048110 0.00195
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_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys) rs141399869 0.00163
NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=) rs184389316 0.00160
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_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_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_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520 0.00121
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_001370466.1(NOD2):c.552C>T (p.Ala184=) rs5743269 0.00090
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563 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_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_001199107.2(TBC1D24):c.1473C>G (p.Pro491=) rs370427146 0.00071
NM_022089.4(ATP13A2):c.2942C>T (p.Thr981Met) rs148201608 0.00070
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356 0.00068
NM_170784.3(MKKS):c.67A>G (p.Arg23Gly) rs147545395 0.00068
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp) rs140698625 0.00064
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_001378615.1(CC2D2A):c.2945G>A (p.Arg982His) rs150093365 0.00057
NM_005045.4(RELN):c.5961G>T (p.Lys1987Asn) rs143948239 0.00057
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_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val) rs188891842 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_001018113.3(FANCB):c.1067C>T (p.Ser356Leu) rs142304943 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_080605.4(B3GALT6):c.485G>A (p.Arg162Gln) rs376811907 0.00045
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_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_018979.4(WNK1):c.5050A>G (p.Ile1684Val) rs770568108 0.00039
NM_022089.4(ATP13A2):c.3087C>T (p.Phe1029=) rs184878897 0.00039
NM_032415.7(CARD11):c.2119C>T (p.Arg707Cys) rs143049136 0.00039
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999 0.00038
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_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_001199107.2(TBC1D24):c.1570C>T (p.Arg524Trp) rs78644690 0.00035
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_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_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln) rs200226466 0.00031
NM_005045.4(RELN):c.2446C>T (p.Leu816Phe) rs144653976 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_022089.4(ATP13A2):c.1244G>A (p.Arg415Gln) rs190746040 0.00029
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_001202.6(BMP4):c.124G>C (p.Ala42Pro) rs140920120 0.00026
NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met) rs201954181 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_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_005045.4(RELN):c.5711C>T (p.Thr1904Met) rs114190729 0.00025
NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr) rs142963320 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_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_001199107.2(TBC1D24):c.1074C>T (p.Pro358=) rs75961715 0.00021
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_015910.7(WDPCP):c.1789G>A (p.Val597Ile) rs776917693 0.00020
NM_018979.4(WNK1):c.5851A>G (p.Thr1951Ala) rs72650764 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_001199107.2(TBC1D24):c.663C>T (p.Pro221=) rs148670169 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_006306.4(SMC1A):c.1173G>A (p.Gln391=) rs147952638 0.00019
NM_006662.3(SRCAP):c.2648C>G (p.Ala883Gly) rs139524110 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.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_005045.4(RELN):c.8212C>T (p.Arg2738Trp) rs202166176 0.00016
NM_021098.3(CACNA1H):c.6244C>T (p.Arg2082Trp) rs771719773 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_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_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_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_005045.4(RELN):c.1708C>G (p.His570Asp) rs374546580 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_004370.6(COL12A1):c.3767A>G (p.His1256Arg) rs199692759 0.00012
NM_005045.4(RELN):c.7268G>A (p.Arg2423His) rs140660860 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_000475.5(NR0B1):c.545G>C (p.Gly182Ala) rs761749382 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_001370466.1(NOD2):c.2087C>T (p.Pro696Leu) rs201076024 0.00011
NM_001972.4(ELANE):c.217G>A (p.Ala73Thr) rs201421847 0.00011
NM_001972.4(ELANE):c.472C>G (p.Leu158Val) rs535990034 0.00011
NM_003482.4(KMT2D):c.15694A>G (p.Ile5232Val) rs199593058 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_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.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_032415.7(CARD11):c.3113C>T (p.Ala1038Val) rs374682435 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_001370466.1(NOD2):c.544C>T (p.Pro182Ser) rs143080077 0.00010
NM_004370.6(COL12A1):c.9076C>G (p.Pro3026Ala) rs376189614 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_170784.3(MKKS):c.926G>A (p.Arg309His) rs199939179 0.00010
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628 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_000428.3(LTBP2):c.1301C>T (p.Pro434Leu) rs371940681 0.00009
NM_001008212.2(OPTN):c.1401+4A>G rs371470839 0.00009
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met) rs201649140 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_001614.5(ACTG1):c.45C>T (p.Gly15=) rs145574149 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_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_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_213655.5(WNK1):c.3107C>T (p.Ala1036Val) rs187534119 0.00009
NM_001203.3(BMPR1B):c.892G>A (p.Ala298Thr) rs373000965 0.00008
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 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.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_000052.7(ATP7A):c.3565A>G (p.Ile1189Val) rs368917354 0.00007
NM_001001557.4(GDF6):c.815C>T (p.Pro272Leu) rs561421783 0.00007
NM_001199107.2(TBC1D24):c.178C>T (p.Arg60Trp) rs373914077 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_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_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_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_001365536.1(SCN9A):c.5379G>A (p.Ala1793=) rs201875421 0.00006
NM_001374736.1(DST):c.15489G>C (p.Glu5163Asp) rs186788522 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_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_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_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_139058.3(ARX):c.1170C>T (p.Gly390=) rs761632870 0.00006
NM_144596.4(TTC8):c.4A>G (p.Ser2Gly) rs759112760 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.5189C>T (p.Thr1730Met) rs201958183 0.00005
NM_001166108.2(PALLD):c.229G>C (p.Glu77Gln) rs376732578 0.00005
NM_001283009.2(RTEL1):c.2308G>A (p.Gly770Arg) rs537754916 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_006662.3(SRCAP):c.3254T>C (p.Val1085Ala) rs200083101 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.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_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_001202.6(BMP4):c.863G>A (p.Arg288Gln) rs370847935 0.00004
NM_001203.3(BMPR1B):c.43A>G (p.Lys15Glu) rs1346115955 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_001370466.1(NOD2):c.1894G>A (p.Val632Met) rs570167996 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.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.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.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.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_031885.5(BBS2):c.962C>T (p.Thr321Met) rs758548498 0.00004
NM_032415.7(CARD11):c.3112G>A (p.Ala1038Thr) rs199916182 0.00004
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg) rs760977747 0.00004
NM_212482.4(FN1):c.4559T>G (p.Val1520Gly) rs370343584 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_001199107.2(TBC1D24):c.1022G>A (p.Arg341His) rs754727069 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_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_004380.3(CREBBP):c.5115C>T (p.Tyr1705=) rs200287696 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_005461.5(MAFB):c.294G>C (p.Glu98Asp) rs374174345 0.00003
NM_005476.7(GNE):c.1907C>T (p.Ala636Val) rs756488394 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.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.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_025114.4(CEP290):c.6523-6T>C rs794727692 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_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.1278A>T (p.Glu426Asp) rs780820166 0.00002
NM_000503.6(EYA1):c.107C>T (p.Thr36Ile) rs727503048 0.00002
NM_001199107.2(TBC1D24):c.1015A>G (p.Asn339Asp) rs574768683 0.00002
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105 0.00002
NM_001199107.2(TBC1D24):c.193C>T (p.Arg65Cys) rs750421791 0.00002
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224 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_004048.4(B2M):c.278C>A (p.Thr93Asn) rs778103494 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_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_006662.3(SRCAP):c.5518C>T (p.Arg1840Trp) rs531238169 0.00002
NM_018979.4(WNK1):c.4823C>T (p.Ala1608Val) rs781667314 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.2150C>T (p.Ser717Leu) rs768306211 0.00002
NM_021098.3(CACNA1H):c.3185C>T (p.Pro1062Leu) rs1245328322 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.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.6838C>T (p.Pro2280Ser) rs760918600 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.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_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727 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.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_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_001008212.2(OPTN):c.447G>A (p.Arg149=) rs555741399 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_001199107.2(TBC1D24):c.1530A>G (p.Gly510=) rs749232409 0.00001
NM_001199107.2(TBC1D24):c.1571G>A (p.Arg524Gln) rs758997013 0.00001
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp) rs748302886 0.00001
NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu) rs756181906 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.2483G>A (p.Arg828Gln) rs774640608 0.00001
NM_001283009.2(RTEL1):c.3184G>A (p.Ala1062Thr) rs773397014 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_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.5510G>A (p.Gly1837Glu) rs757825778 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_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.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_015910.7(WDPCP):c.655G>A (p.Gly219Ser) rs761312526 0.00001
NM_017613.4(DONSON):c.1282C>T (p.Gln428Ter) rs993687029 0.00001
NM_018834.6(MATR3):c.1879C>G (p.Gln627Glu) rs772231433 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.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.3314G>A (p.Arg1105His) rs764071122 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.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.5797A>G (p.Met1933Val) rs59950911 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.6787G>A (p.Val2263Ile) rs750732485 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_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.3535A>G (p.Thr1179Ala) rs778879482 0.00001
NM_022489.4(INF2):c.3737G>C (p.Cys1246Ser) rs555680535 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_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_170784.3(MKKS):c.251_252del (p.His84fs) rs756259125 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_000044.6(AR):c.1235C>A (p.Ala412Glu)
NM_000044.6(AR):c.161TGC[5] (p.Leu57dup) rs752055010
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.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.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_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_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_000944.5(PPP3CA):c.844G>A (p.Glu282Lys) rs1553923787
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_001018113.3(FANCB):c.1105-26TATT[4] rs398123537
NM_001080477.4(TENM3):c.1441G>A (p.Gly481Ser)
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_001199107.2(TBC1D24):c.229ATCGTGGGCAAG[1] (p.77IVGK[1]) rs761918906
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu) rs1057519630
NM_001199107.2(TBC1D24):c.811A>G (p.Thr271Ala)
NM_001204.7(BMPR2):c.1037C>A (p.Thr346Asn) rs757926043
NM_001283009.2(RTEL1):c.1266+3_1266+80del rs2090574236
NM_001283009.2(RTEL1):c.2040G>T (p.Gln680His)
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.3412C>A (p.Arg1138=) rs6062495
NM_001370466.1(NOD2):c.2586A>C (p.Gln862His) rs764244331
NM_001370466.1(NOD2):c.383T>A (p.Leu128Gln)
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_001379081.2(FREM1):c.2097_2100del (p.Lys699fs) rs769407804
NM_001614.5(ACTG1):c.124-6C>T
NM_001734.5(C1S):c.1198G>C (p.Glu400Gln) rs150549869
NM_002335.4(LRP5):c.2779G>A (p.Gly927Ser) rs764138752
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.176C>T (p.Pro59Leu) rs202213873
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.542G>C (p.Gly181Ala)
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.669GCA[16] (p.Gln238_Pro239insGlnGlnGln) rs113070757
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr) rs143711798
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.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.4334A>G (p.Lys1445Arg)
NM_004370.6(COL12A1):c.4564C>T (p.Arg1522Cys) rs574863380
NM_004370.6(COL12A1):c.4679G>A (p.Arg1560Gln)
NM_004370.6(COL12A1):c.5207A>G (p.Asp1736Gly) rs762021815
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_004380.3(CREBBP):c.2312A>G (p.Gln771Arg) rs147805823
NM_004380.3(CREBBP):c.3370-4del rs75459669
NM_004380.3(CREBBP):c.3370-5_3370-4del rs75459669
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=) rs142545779
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu) rs146887252
NM_004484.4(GPC3):c.338-5del rs370737647
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.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.8077G>A (p.Gly2693Arg)
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_005188.4(CBL):c.1096-1G>C rs397517076
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_005476.7(GNE):c.1660C>T (p.His554Tyr)
NM_006744.4(RBP4):c.223G>A (p.Ala75Thr) rs794726861
NM_006766.5(KAT6A):c.4968_4982dup (p.Gln1657_Pro1661dup) rs750049486
NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2]) rs746697405
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_018834.6(MATR3):c.2318A>C (p.Tyr773Ser) rs368217486
NM_018834.6(MATR3):c.2318A>G (p.Tyr773Cys) rs368217486
NM_018979.4(WNK1):c.2119G>A (p.Val707Ile) rs761380468
NM_018979.4(WNK1):c.4605_4607del (p.Ser1536del) rs72650732
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.13G>A (p.Ala5Thr) rs948561024
NM_021098.3(CACNA1H):c.1535C>T (p.Ala512Val)
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.3091G>A (p.Glu1031Lys) rs548097951
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.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.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.6281C>G (p.Ser2094Trp) rs371550084
NM_021098.3(CACNA1H):c.6281C>T (p.Ser2094Leu) rs371550084
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.6860G>A (p.Ser2287Asn)
NM_021098.3(CACNA1H):c.6887C>T (p.Ser2296Phe)
NM_021098.3(CACNA1H):c.7037G>C (p.Gly2346Ala) rs765057432
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.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.1582C>G (p.Pro528Ala) rs181694819
NM_022489.4(INF2):c.1582C>T (p.Pro528Ser) rs181694819
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.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.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_024426.6(WT1):c.569C>T (p.Pro190Leu) rs757349907
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs) rs747138345
NM_032119.4(ADGRV1):c.8488C>G (p.Leu2830Val) rs555466095
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_080605.4(B3GALT6):c.109G>A (p.Gly37Arg) rs867336520
NM_139276.3(STAT3):c.2144C>T (p.Pro715Leu) rs1064794957
NM_152419.3(HGSNAT):c.6C>A (p.Ser2Arg)
NM_213599.3(ANO5):c.13G>A (p.Asp5Asn)
NM_213655.5(WNK1):c.2172dup (p.Pro725fs) rs910119961
NM_213720.3(CHCHD10):c.276T>A (p.Ala92=) rs1252496774
NM_213720.3(CHCHD10):c.42-5C>T rs868345557

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