ClinVar Miner

Variants with conflicting interpretations studied for Dilated Cardiomyopathy, Dominant

Coded as:
Minimum review status of the submission for Dilated Cardiomyopathy, Dominant: Y axis collection method of the submission for Dilated Cardiomyopathy, Dominant:
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 Variants with at least 2 submissions 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 kind of conflict
219 1167 2 467 687 2 13 1131

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
Dilated Cardiomyopathy, Dominant pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective risk factor
uncertain significance 4 5 2 566 336 0 0 0 0
likely benign 3 4 43 0 461 1 1 1 1
benign 0 0 0 7 0 0 0 0 0

Condition to condition summary #

Total conditions: 402
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
not specified 0 156 0 453 525 0 1 971
not provided 0 188 0 324 533 0 3 847
Cardiovascular phenotype 0 110 0 338 223 0 1 562
Cardiomyopathy 0 87 1 167 152 0 0 319
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 0 118 0 65 14 0 0 79
Hypertrophic cardiomyopathy 0 1489 0 8 17 0 1 26
Arrhythmia 0 0 0 12 12 0 0 24
Dilated cardiomyopathy 0 2 0 2 19 0 1 21
Familial hypertrophic cardiomyopathy 4 0 2 0 12 1 0 2 15
Dilated cardiomyopathy 1DD 0 7 0 8 4 0 0 12
Primary familial hypertrophic cardiomyopathy 0 12 0 4 7 0 2 12
Dilated cardiomyopathy 1AA 0 1 0 3 7 0 0 10
Dilated cardiomyopathy 1W 0 6 0 6 1 0 0 7
Familial hypertrophic cardiomyopathy 1 0 3 0 3 2 0 2 7
Familial hypertrophic cardiomyopathy 14 0 9 0 5 2 0 0 7
Dilated cardiomyopathy 1G 0 2 0 1 3 0 1 5
Left ventricular noncompaction cardiomyopathy 0 281 0 1 3 0 0 4
Long QT syndrome 0 106 0 2 1 0 1 4
Total anomalous pulmonary venous return 0 0 0 1 4 0 0 4
Alzheimer disease, type 4 0 1 0 3 0 0 0 3
Cardiomyopathy; Dilated cardiomyopathy 0 0 0 3 0 0 0 3
Cardiomyopathy; Ventricular tachycardia 0 0 0 1 2 0 0 3
Dilated Cardiomyopathy, Dominant 2508 6 0 1 2 0 0 3
Left ventricular noncompaction 0 0 0 0 1 1 1 3
Limb-girdle muscular dystrophy, type 2J 0 2 0 0 1 0 2 3
Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 0 5 0 1 2 0 0 3
Myopathy, distal, 1 0 90 0 3 0 0 0 3
Primary dilated cardiomyopathy 0 6 0 3 0 0 0 3
ANKRD1-related dilated cardiomyopathy 0 2 0 1 1 0 0 2
Alzheimer disease 0 0 0 2 0 0 0 2
Arrhythmogenic right ventricular cardiomyopathy 0 100 0 1 1 0 0 2
Atrial septal defect 0 195 0 1 1 0 0 2
Cardiac arrhythmia 0 0 1 1 0 0 0 2
Cardiomyopathy; Hypertrophic cardiomyopathy 0 0 0 0 2 0 0 2
Dilated cardiomyopathy 1A 0 1 0 1 1 0 0 2
Dilated cardiomyopathy 1T 0 0 0 1 1 0 0 2
Familial hypertrophic cardiomyopathy 2 0 0 0 1 1 0 0 2
Loeys-Dietz syndrome 2 0 5 0 2 0 0 0 2
Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 0 2 0 0 2 0 0 2
Premature ventricular contraction 0 0 0 0 2 0 0 2
Supraventricular tachycardia 0 0 0 0 2 0 0 2
Ventricular tachycardia 0 0 0 0 2 0 0 2
11q partial monosomy syndrome 0 0 0 0 0 0 1 1
16p13.2-p13.13 microduplication syndrome 0 0 0 0 0 0 1 1
16q24.3 microdeletion syndrome 0 0 0 0 0 0 1 1
1p13.3 deletion syndrome 0 0 0 0 0 0 1 1
1q21.1 recurrent microdeletion 0 0 0 0 0 0 1 1
1q24q25 microdeletion syndrome 0 0 0 0 0 0 1 1
3-methylcrotonyl CoA carboxylase 2 deficiency 0 0 0 0 0 0 1 1
Abnormal bleeding 0 0 0 0 1 0 1 1
Abnormal thrombosis; Reduced protein S activity 0 0 0 0 0 0 1 1
Abnormality of the eye 0 0 0 0 0 0 1 1
Acrodysostosis 2, with or without hormone resistance 0 0 0 0 1 0 0 1
Adams-Oliver syndrome 5 0 0 0 0 0 0 1 1
Alzheimer disease, type 3; Frontotemporal dementia; Pick's disease; Acne inversa, familial, 3 0 0 0 1 0 0 0 1
Aminoaciduria 0 0 0 0 0 0 1 1
Amyloidogenic transthyretin amyloidosis 0 0 0 0 1 0 0 1
Amyotrophic lateral sclerosis and/or frontotemporal dementia 1 0 0 0 0 0 0 1 1
Anomalous pulmonary venous return 0 0 0 0 1 0 0 1
Aortic aneurysm, familial thoracic 4 0 0 0 0 1 0 0 1
Arrhythmogenic right ventricular cardiomyopathy; Atrial fibrillation; Dilated cardiomyopathy 0 0 0 0 1 0 0 1
Arrhythmogenic right ventricular cardiomyopathy; Hypertrophic cardiomyopathy 0 0 0 0 1 0 0 1
Arrhythmogenic right ventricular dysplasia, familial, 13 0 0 0 0 1 0 0 1
Arthrogryphosis 0 0 0 0 1 0 0 1
Ataxia-telangiectasia-like disorder 1 0 0 0 0 0 0 1 1
Atrial fibrillation 0 0 0 0 1 0 0 1
Atrial fibrillation; Brugada syndrome; Congestive heart failure; Hypertrophic cardiomyopathy 0 0 0 0 1 0 0 1
Atrial fibrillation; Cardiomyopathy 0 0 0 0 1 0 0 1
Atrial fibrillation; Congestive heart failure; Ventricular tachycardia 0 0 0 0 1 0 0 1
Atrial fibrillation; Dilated cardiomyopathy 0 0 0 0 1 0 0 1
Atrial fibrillation; Ventricular tachycardia 0 0 0 1 0 0 0 1
Atrial septal defect 3 0 0 0 0 1 0 0 1
Autism spectrum disorder 0 0 0 0 1 1 1 1
Autism spectrum disorder; Epilepsy 0 0 0 0 1 0 1 1
Autistic behavior; Absent speech 0 0 0 0 1 0 0 1
Autistic behavior; Moderate global developmental delay 0 0 0 0 0 0 1 1
Autistic behavior; Severe global developmental delay 0 0 0 0 0 0 1 1
Autistic disorder of childhood onset 0 0 0 0 1 0 1 1
Autistic disorder of childhood onset; Schizophrenia 0 0 0 0 0 0 1 1
Autosomal recessive congenital ichthyosis 3 0 0 0 0 0 0 1 1
Axenfeld-Rieger syndrome type 3 0 0 0 0 0 0 1 1
Barakat syndrome 0 0 0 0 0 0 1 1
Bardet-Biedl syndrome 0 0 0 0 0 0 1 1
Becker muscular dystrophy 0 0 0 0 0 0 1 1
Becker muscular dystrophy; Duchenne muscular dystrophy 0 0 0 0 0 0 1 1
Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B 0 0 0 0 0 0 1 1
Beckwith-Wiedemann syndrome 0 0 0 0 0 0 1 1
Behavioral abnormality; Low-set ears; Prominent nasal bridge; Underdeveloped nasal alae; Intellectual disability, mild; Postnatal microcephaly 0 0 0 0 1 0 0 1
Behavioral abnormality; Moderate global developmental delay 0 0 0 0 1 0 0 1
Bethlem myopathy 1 0 0 0 0 1 0 0 1
Biotin-thiamine-responsive basal ganglia disease 0 0 0 0 1 0 0 1
Biotinidase deficiency 0 0 0 0 1 0 1 1
Birk-Barel Intellectual Disability Dysmorphism Syndrome 0 0 0 1 0 0 0 1
Birt-Hogg-Dubé Syndrome 0 0 0 0 0 0 1 1
Blepharophimosis, ptosis, and epicanthus inversus 0 0 0 0 0 0 1 1
Blepharophimosis; Absent speech; Thick lower lip vermilion; Thin upper lip vermilion; Long eyelashes; Intellectual disability, moderate 0 0 0 0 0 0 1 1
Bosch-Boonstra-Schaaf optic atrophy syndrome 0 0 0 0 0 0 1 1
Brain malformations and urinary tract defects 0 0 0 0 0 0 1 1
Branched-chain keto acid dehydrogenase kinase deficiency 0 0 0 0 1 0 0 1
Breast-ovarian cancer, familial 1 0 0 0 0 1 0 1 1
Breast-ovarian cancer, familial 2 0 0 0 0 0 0 1 1
Breast-ovarian cancer, familial 3 0 0 0 0 0 0 1 1
Brown-Vialetto-Van Laere syndrome 1 0 0 0 0 1 0 0 1
Brugada syndrome 0 107 0 0 1 0 0 1
Brugada syndrome 1 0 0 0 1 0 0 0 1
Brugada syndrome; Hypertrophic cardiomyopathy; Left ventricular noncompaction cardiomyopathy 0 0 0 0 1 0 0 1
CHARGE association 0 0 0 0 1 0 1 1
Capillary malformation-arteriovenous malformation 1 0 0 0 0 0 0 1 1
Cardiomyopathy; Brugada syndrome 0 0 0 0 1 0 0 1
Cardiomyopathy; Congestive heart failure; Hypertrophic cardiomyopathy 0 0 0 0 1 0 0 1
Cardiomyopathy; Heart failure, systolic 0 0 0 1 0 0 0 1
Cardiomyopathy; Hypertrophic cardiomyopathy; Ventricular tachycardia 0 0 0 0 1 0 0 1
Cardiomyopathy; Long QT syndrome 0 0 0 1 0 0 0 1
Cardiomyopathy; Ventricular fibrillation 0 0 0 1 0 0 0 1
Cerebellar ataxia, nonprogressive, with mental retardation 0 0 0 1 1 0 0 1
Cerebral cavernous malformation 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease 0 0 0 0 1 0 1 1
Charcot-Marie-Tooth disease type 2K 0 0 0 0 1 0 0 1
Charcot-Marie-Tooth disease, demyelinating, type 1b 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease, demyelinating, type 1b; Variegate porphyria; Familial hemiplegic migraine type 2; Paragangliomas 3 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease, type 2 0 29 0 0 1 0 0 1
Charcot-Marie-Tooth disease, type 4D 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease, type IA 0 0 0 0 0 0 1 1
Cholestasis, progressive familial intrahepatic 1 0 0 0 0 0 0 1 1
Chorioretinal atrophy, progressive bifocal 0 0 0 0 0 0 1 1
Chorioretinal atrophy, progressive bifocal; North Carolina macular dystrophy 0 0 0 0 0 0 1 1
Chromosome 10q22.3-q23.2 deletion syndrome 0 0 0 0 0 0 1 1
Chromosome 15q11-q13 duplication syndrome 0 0 0 0 0 0 1 1
Chromosome 17p13.1 deletion syndrome 0 0 0 0 0 0 1 1
Chromosome 17q12 duplication syndrome 0 0 0 0 0 0 1 1
Chromosome Xq26.3 duplication syndrome 0 0 0 0 0 0 1 1
Ciliary dyskinesia, primary, 28 0 0 0 0 0 0 1 1
Ciliary dyskinesia, primary, 3 0 0 0 0 0 0 1 1
Ciliary dyskinesia, primary, 7 0 0 0 0 0 0 1 1
Citrullinemia type I 0 0 0 0 0 0 1 1
Cleidocranial dysostosis 0 0 0 0 0 0 1 1
Cohen syndrome 0 0 0 0 0 0 1 1
Combined oxidative phosphorylation deficiency 14 0 0 0 0 1 0 0 1
Combined oxidative phosphorylation deficiency 31 0 0 0 0 0 0 1 1
Common variable immunodeficiency 0 0 0 0 0 0 1 1
Cone monochromatism 0 0 0 0 0 0 1 1
Cone/cone-rod dystrophy 0 0 0 0 0 0 1 1
Congenital contractural arachnodactyly 0 0 0 0 1 0 0 1
Congenital diaphragmatic hernia 0 0 0 0 1 0 0 1
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 0 0 0 0 0 0 1 1
Congestive heart failure; Ventricular tachycardia 0 0 0 0 1 0 0 1
Cornelia de Lange syndrome 1 0 0 0 0 0 0 1 1
Cornelia de Lange syndrome 5 0 0 0 0 0 0 1 1
Currarino triad 0 0 0 0 0 0 1 1
Cystic fibrosis 0 0 0 0 0 0 1 1
Cystinuria 0 0 0 0 0 0 1 1
Deafness, autosomal dominant 56 0 0 0 0 1 0 0 1
Deafness, autosomal recessive 16 0 0 0 0 0 0 1 1
Deafness, autosomal recessive 1A 0 0 0 0 0 0 1 1
Deafness-infertility syndrome 0 0 0 0 0 0 1 1
Deep venous thrombosis 0 0 0 0 0 0 1 1
Deletion of long arm of chromosome 18 0 0 0 0 0 0 1 1
Dent disease 1 0 0 0 0 0 0 1 1
Developmental Split Brain Syndrome 0 0 0 0 0 0 1 1
DiGeorge sequence 0 0 0 0 0 0 1 1
Dihydropteridine reductase deficiency 0 0 0 0 0 0 1 1
Dilated cardiomyopathy 1EE 0 0 0 0 1 0 0 1
Dilated cardiomyopathy 1W; Familial hypertrophic cardiomyopathy 15 0 2 0 0 1 0 0 1
Distal myopathy Markesbery-Griggs type 0 948 0 0 1 0 0 1
Duchenne muscular dystrophy 0 0 0 0 1 0 1 1
Ductal breast carcinoma 0 0 0 0 1 0 0 1
Dystonia 0 0 0 0 0 0 1 1
Dystonia; Global developmental delay; Ichthyosis 0 0 0 0 0 0 1 1
Early infantile epileptic encephalopathy 0 0 0 0 1 0 1 1
Early infantile epileptic encephalopathy 4 0 0 0 0 0 0 1 1
Ebstein anomaly of the tricuspid valve; Growth hormone deficiency; Intellectual disability, mild 0 0 0 0 1 0 0 1
Ehlers-Danlos syndrome, classic type 0 0 0 0 1 0 0 1
Encephalopathy 0 0 0 0 1 0 0 1
Epilepsy 0 0 0 0 1 0 1 1
Epilepsy, childhood absence 2; Familial febrile seizures 8 0 0 0 0 0 0 1 1
Epilepsy, focal, with speech disorder and with or without mental retardation 0 0 0 0 1 0 0 1
Epilepsy, progressive myoclonic 3 0 0 0 0 1 0 0 1
Epileptic encephalopathy 0 0 0 0 0 0 1 1
Epileptic encephalopathy, early infantile, 1; Spinocerebellar ataxia, autosomal recessive 12 0 0 0 0 0 0 1 1
Erythrocytosis, familial, 2; Von Hippel-Lindau syndrome 0 0 0 0 0 0 1 1
Esophageal atresia; Seizures; Neurodevelopmental delay; Ventricular septal defect 0 0 0 0 0 0 1 1
Exudative vitreoretinopathy 1 0 0 0 0 0 0 1 1
Factor X deficiency 0 0 0 0 0 0 1 1
Failure to thrive in infancy; Attention deficit hyperactivity disorder 0 0 0 0 1 0 0 1
Familial X-linked hypophosphatemic vitamin D refractory rickets 0 0 0 0 0 0 1 1
Familial adenomatous polyposis 1 0 0 0 0 0 0 1 1
Familial cancer of breast 0 0 0 0 1 0 1 1
Familial colorectal cancer 0 0 0 0 1 0 0 1
Familial dilated cardiomyopathy 0 1 0 1 0 0 0 1
Familial dilated cardiomyopathy and peripheral neuropathy 0 0 0 0 1 0 0 1
Familial hypercholesterolemia 1 0 0 0 0 1 0 1 1
Familial hypertrophic cardiomyopathy 11 0 0 0 0 0 0 1 1
Familial hypertrophic cardiomyopathy 16 0 0 0 0 1 0 0 1
Familial hypokalemia-hypomagnesemia 0 0 0 0 0 0 1 1
Familial restrictive cardiomyopathy 0 101 0 0 1 0 0 1
Fanconi anemia 0 0 0 0 1 0 1 1
Fanconi anemia, complementation group A 0 0 0 0 0 0 1 1
Focal seizures 0 0 0 0 0 0 1 1
Fumarase deficiency 0 0 0 0 0 0 1 1
Galactosylceramide beta-galactosidase deficiency 0 0 0 0 1 0 0 1
Gingival bleeding; Impaired epinephrine-induced platelet aggregation; Impaired collagen-induced platelet aggregation; Impaired arachidonic acid-induced platelet aggregation; Impaired ristocetin-induced platelet aggregation; Impaired thrombin-induced platelet aggregation; Impaired thromboxane A2 agonist-induced platelet aggregation 0 0 0 0 0 0 1 1
Glioma 0 0 0 0 0 0 1 1
Global developmental delay 0 0 0 1 0 0 1 1
Global developmental delay; Expressive language delay; Postnatal microcephaly 0 0 0 0 0 0 1 1
Global developmental delay; Hypoplasia of the corpus callosum; Abnormality of the cerebral white matter; Periventricular leukomalacia; Delayed myelination; Muscular hypotonia 0 0 0 0 0 0 1 1
Global developmental delay; Microcephaly; Abnormality of the cerebellum 0 0 0 0 0 0 1 1
Global developmental delay; Seizures; Hypotelorism; Short philtrum; Infantile muscular hypotonia 0 0 0 0 1 0 0 1
Global developmental delay; Seizures; Intellectual disability 0 0 0 0 0 0 1 1
Glycogen storage disease, type II 0 0 0 0 0 0 1 1
Gorlin syndrome 0 0 0 0 0 0 1 1
Griscelli syndrome type 2 0 0 0 0 0 0 1 1
Growth abnormality 0 0 0 0 1 0 0 1
Heart failure 0 1 0 0 1 0 0 1
Heart failure, systolic 0 0 0 0 1 0 0 1
Heart failure; Dilated cardiomyopathy 0 0 0 0 1 0 0 1
Hematologic neoplasm 0 0 0 0 0 0 1 1
Hereditary Paraganglioma-Pheochromocytoma Syndromes 0 0 0 0 1 0 0 1
Hereditary breast and ovarian cancer syndrome 0 0 0 0 0 0 1 1
Hereditary cancer-predisposing syndrome 0 0 0 0 1 0 1 1
Hereditary cutaneous melanoma 0 0 0 0 0 0 1 1
Hereditary factor IX deficiency disease 0 0 0 0 0 0 1 1
Hereditary factor XI deficiency disease 0 0 0 0 0 0 1 1
Hereditary hemorrhagic telangiectasia type 1 0 0 0 0 0 0 1 1
Hereditary nonpolyposis colon cancer 0 0 0 0 1 0 1 1
Hereditary pancreatitis 0 0 0 0 1 0 0 1
Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 0 0 0 0 1 0 0 1
Hereditary sensory and autonomic neuropathy type IIB 0 0 0 0 1 0 0 1
Hirschsprung disease 0 0 0 0 1 0 0 1
Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 0 0 0 0 0 0 1 1
Hyperparathyroidism 1; Parathyroid carcinoma; Hyperparathyroidism 2 0 0 0 0 0 0 1 1
Hypohidrotic X-linked ectodermal dysplasia 0 0 0 0 0 0 1 1
Hypoparathyroidism retardation dysmorphism syndrome 0 0 0 0 0 0 1 1
Hypophosphatemic rickets, X-linked recessive 0 0 0 0 0 0 1 1
Idiopathic basal ganglia calcification 1 0 0 0 0 0 0 1 1
Idiopathic fibrosing alveolitis, chronic form; Dyskeratosis congenita, autosomal dominant, 2 0 0 0 0 1 0 0 1
Imatinib response 0 0 0 0 0 1 0 1
Immunodeficiency 23 0 0 0 0 0 0 1 1
Inborn genetic diseases 0 4 0 0 1 0 0 1
Inclusion body myositis; GNE myopathy 0 0 0 0 0 0 1 1
Increased left ventricular wall thickness 0 0 0 0 1 0 0 1
Infantile nephronophthisis 0 0 0 0 0 0 1 1
Infantile neuroaxonal dystrophy 0 0 0 0 0 0 1 1
Inherited Immunodeficiency Diseases 0 0 0 0 0 0 1 1
Intellectual disability 0 0 0 0 0 0 1 1
Intellectual disability, mild 0 0 0 0 1 0 0 1
Intellectual disability, severe 0 0 0 0 0 0 1 1
Internal malformations 0 0 0 0 1 0 0 1
Intestinal malrotation 0 0 0 0 1 0 1 1
Isolated growth hormone deficiency type 1B 0 0 0 0 0 0 1 1
Jeune thoracic dystrophy 0 0 0 0 0 0 1 1
Joubert syndrome 0 0 0 0 0 0 1 1
Joubert syndrome 20; Meckel syndrome, type 11 0 0 0 0 1 0 0 1
Joubert syndrome; Orofaciodigital syndrome I 0 0 0 0 0 0 1 1
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke 0 0 0 1 0 0 0 1
Juvenile polyposis syndrome 0 0 0 0 1 0 1 1
Kallmann syndrome 1 0 0 0 0 1 0 0 1
Keratoconus 0 0 0 0 1 0 0 1
Kidney Disease; Tooth agenesis 0 0 0 0 1 0 0 1
Kilquist Syndrome 0 0 0 0 0 0 1 1
Kleefstra syndrome 2 0 0 0 0 0 0 1 1
Laminin alpha 2-related dystrophy 0 0 0 0 0 0 1 1
Leber congenital amaurosis 0 0 0 0 0 0 1 1
Leptin receptor deficiency 0 0 0 0 0 0 1 1
Leri Weill dyschondrosteosis 0 0 0 0 1 0 0 1
Lethal multiple pterygium syndrome 0 0 0 0 0 0 1 1
Limb-girdle muscular dystrophy 0 0 0 0 0 0 1 1
Limb-girdle muscular dystrophy, type 2A 0 0 0 0 0 0 1 1
Limb-girdle muscular dystrophy, type 2B 0 0 0 0 0 0 1 1
Limb-girdle muscular dystrophy, type 2F 0 1 0 1 0 0 0 1
Loeys-Dietz syndrome 4 0 0 0 0 0 0 1 1
Long QT syndrome 3 0 0 0 1 0 0 0 1
Long qt syndrome 3, acquired, susceptibility to 0 0 0 0 0 1 0 1
Lowe syndrome 0 0 0 0 0 0 1 1
Lung cancer 0 0 0 0 0 0 1 1
MBD5 associated neurodevelopmental disorder 0 0 0 0 0 0 1 1
MECP2 duplication syndrome 0 0 0 0 0 0 1 1
MYBPC3-Related Disorders 0 0 0 0 0 0 1 1
Macrocephaly, macrosomia, facial dysmorphism syndrome 0 0 0 0 1 0 0 1
Macrothrombocytopenia 0 0 0 0 0 0 1 1
Majeed syndrome 0 0 0 0 0 0 1 1
Marfan syndrome 0 0 0 0 0 0 1 1
Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 0 0 0 0 0 0 1 1
Marfanoid habitus and intellectual disability 0 0 0 0 0 0 1 1
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 0 0 0 0 0 0 1 1
Melanoma, cutaneous malignant, susceptibility to, 10 0 0 0 0 1 0 0 1
Mental retardation, autosomal dominant 18 0 0 0 0 0 0 1 1
Mental retardation, autosomal dominant 26 0 0 0 0 1 0 0 1
Mental retardation, autosomal recessive 7 0 0 0 0 0 0 1 1
Mesangiocapillary glomerulonephritis 0 0 0 0 0 0 1 1
Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis 0 0 0 0 1 0 0 1
Mirror movements 1 0 0 0 0 1 0 0 1
Mitochondrial complex I deficiency 0 0 0 0 1 0 0 1
Mowat-Wilson syndrome 0 0 0 0 0 0 1 1
Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 0 0 0 0 0 1 1
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability 0 0 0 0 0 0 1 1
Multiple cutaneous leiomyomas; Hereditary cancer-predisposing syndrome 0 0 0 0 0 0 1 1
Multiple epiphyseal dysplasia 5 0 0 0 0 0 0 1 1
Multiple exostoses type 2 0 0 0 0 0 0 1 1
Muscle dystrophy 0 0 0 0 0 0 1 1
Myoclonic dystonia 0 0 0 0 0 0 1 1
Myofibrillar myopathy 0 0 0 0 0 0 1 1
Myofibrillar myopathy 1 0 28 0 1 0 0 0 1
Myofibrillar myopathy, BAG3-related 0 3 0 1 0 0 0 1
Myofibrillar myopathy, ZASP-related 0 25 0 1 0 0 0 1
Myofibrillar myopathy, filamin C-related; Myopathy, distal, 4; Cardiomyopathy, familial hypertrophic, 26; Dilated Cardiomyopathy, Dominant 0 0 0 0 1 0 0 1
Myopathy, myofibrillar, 9, with early respiratory failure 0 948 0 0 1 0 0 1
Myosin storage myopathy 0 91 0 1 0 0 0 1
Nemaline myopathy 6 0 0 0 0 0 0 1 1
Neoplasm of the breast 0 0 0 0 0 0 1 1
Nephronophthisis 0 0 0 1 0 0 0 1
Nephronophthisis 1; Senior-Loken syndrome 3 0 0 0 0 0 0 1 1
Neuroblastoma 3 0 0 0 0 1 0 0 1
Neurodevelopmental disorder 0 0 0 0 1 0 1 1
Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 0 0 0 0 0 0 1 1
Neurofibromatosis, type 2 0 0 0 0 1 0 0 1
Neuronopathy, distal hereditary motor, type viia; Myasthenic syndrome, congenital, 20, presynaptic 0 0 0 0 1 0 0 1
Optic nerve hypoplasia 0 0 0 0 0 0 1 1
Osteogenesis imperfecta type 10 0 0 0 0 0 0 1 1
Osteogenesis imperfecta type I 0 0 0 0 0 0 1 1
Ovarian cancer; breast cancer 0 0 0 0 0 0 1 1
PTEN hamartoma tumor syndrome 0 0 0 0 0 0 1 1
Paris-Trousseau thrombocytopenia 0 0 0 0 0 0 1 1
Parkinson disease 2 0 0 0 0 0 0 1 1
Pediatric metastatic thyroid tumour 0 0 0 0 0 0 1 1
Pena-Shokeir syndrome type I; Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency 0 0 0 0 0 0 1 1
Peripheral neuropathy 0 0 0 0 1 0 0 1
Pigmented nodular adrenocortical disease, primary, 2 0 0 0 0 1 0 0 1
Pitt-Hopkins-like syndrome 2 0 0 0 0 0 0 1 1
Plasminogen activator inhibitor type 1 deficiency 0 0 0 0 1 0 0 1
Polycystic kidney disease, adult type 0 0 0 0 0 0 1 1
Polydactyly; Abnormal heart morphology; Bilateral cleft lip and palate; Phocomelia 0 0 0 0 0 0 1 1
Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis 0 0 0 0 1 0 0 1
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 0 0 0 0 0 0 1 1
Poretti-Boltshauser syndrome 0 0 0 0 0 0 1 1
Prader-Willi syndrome 0 0 0 0 0 0 1 1
Premature ovarian failure 0 0 0 0 1 0 0 1
Premature ovarian insufficiency 0 0 0 0 0 0 1 1
Primary amenorrhea 0 0 0 0 1 0 0 1
Primary ciliary dyskinesia 0 0 0 0 1 0 1 1
Primary hyperoxaluria, type I 0 0 0 0 1 0 0 1
Progressive familial heart block type 1B 0 0 0 0 1 0 0 1
Progressive myoclonus epilepsy with ataxia 0 0 0 0 0 0 1 1
Pseudoxanthoma elasticum 0 0 0 0 0 0 1 1
Pulmonary arterial hypertension 0 0 0 0 0 0 1 1
RHD DEL 0 0 0 0 0 0 1 1
Reduced antithrombin III activity 0 0 0 0 0 0 1 1
Reduced protein S activity 0 0 0 0 0 0 1 1
Renal cyst; Pancreatic cysts 0 0 0 0 0 0 1 1
Renal transitional cell carcinoma 0 0 0 0 0 0 1 1
Restrictive cardiomyopathy; Cardiomyopathy; Hypertrophic cardiomyopathy 0 0 0 1 0 0 0 1
Retinal dystrophy 0 0 0 0 0 0 1 1
Retinitis pigmentosa 0 0 0 0 0 0 1 1
RhD negative 0 0 0 0 0 0 1 1
Rigidity and multifocal seizure syndrome, lethal neonatal 0 0 0 0 0 0 1 1
Robin sequence; Intellectual disability, mild; Bilateral conductive hearing impairment; Abnormality of esophagus physiology 0 0 0 0 0 0 1 1
Rod-cone dystrophy; Hypomagnesemia 0 0 0 0 0 0 1 1
SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY 0 0 0 0 0 0 1 1
SUDDEN INFANT DEATH SYNDROME 0 0 0 0 0 0 1 1
Scapuloperoneal myopathy 0 91 0 1 0 0 0 1
Schizophrenia 0 0 0 0 0 0 1 1
Schizophrenia 17 0 0 0 0 0 0 1 1
Seizures 0 0 0 0 0 0 1 1
Seizures; Intellectual disability 0 0 0 0 0 0 1 1
Seizures; Narrow nasal bridge; Mandibular prognathia; Delayed speech and language development; Intrauterine growth retardation 0 0 0 0 1 0 0 1
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive 0 0 0 0 0 0 1 1
Short stature; Failure to thrive; Anemia; Strabismus; Splenomegaly; Sparse hair; Neurodevelopmental delay; Thrombocytopenia 0 0 0 0 0 0 1 1
Skeletal dysplasia 0 0 0 0 1 0 1 1
Spastic paraplegia 0 0 0 0 1 0 1 1
Spastic paraplegia 11, autosomal recessive 0 0 0 0 1 0 0 1
Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 0 0 0 1 1 0 0 1
Spastic paraplegia 4, autosomal dominant 0 0 0 0 0 0 1 1
Spherocytosis type 2 0 0 0 0 0 0 1 1
Spinal muscular atrophy, distal, autosomal recessive, 5 0 0 0 0 1 0 0 1
Spinal muscular atrophy, type II; Kugelberg-Welander disease; Werdnig-Hoffmann disease; Spinal muscular atrophy type 4 0 0 0 0 0 0 1 1
Spinocerebellar ataxia 15 0 0 0 0 0 0 1 1
Spinocerebellar ataxia 27 0 0 0 0 0 0 1 1
Spinocerebellar ataxia, X-linked 0 0 0 0 0 1 0 1
Spinocerebellar ataxia, autosomal recessive 18 0 0 0 0 0 0 1 1
Split-hand/foot malformation 0 0 0 0 0 0 1 1
Spondylocostal dysostosis 5 0 0 0 0 0 0 1 1
Squamous cell carcinoma of the head and neck 0 0 0 0 0 0 1 1
Stargardt disease 1 0 0 0 0 0 0 1 1
Sudden cardiac arrest 0 0 0 0 1 0 0 1
T-cell acute lymphoblastic leukemia 0 0 0 0 0 0 1 1
TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy 0 0 0 0 0 0 1 1
Thoracic aortic aneurysm and aortic dissection 0 0 0 0 1 0 1 1
Thrombocytopenia 0 0 0 0 0 0 1 1
Treacher Collins syndrome 1 0 0 0 0 0 0 1 1
Trichorhinophalangeal dysplasia type I 0 0 0 0 1 0 1 1
Tuberous sclerosis 2 0 0 0 0 0 0 1 1
Tyrosinase-positive oculocutaneous albinism 0 0 0 0 0 0 1 1
Uniparental disomy, paternal, chromosome 14 0 0 0 0 0 0 1 1
Usher syndrome 0 0 0 0 0 0 1 1
Usher syndrome, type 2A; Retinitis pigmentosa 39 0 0 0 0 1 0 0 1
Ventricular fibrillation 0 0 0 0 1 0 0 1
Vici syndrome 0 0 0 0 0 0 1 1
Visceral myopathy 0 0 0 0 0 0 1 1
Vitamin B2 deficiency 0 0 0 0 0 0 1 1
Wieacker Wolff syndrome 0 0 0 0 0 0 1 1
Wilson disease 0 0 0 0 0 0 1 1
Witteveen-kolk syndrome 0 0 0 0 1 0 0 1
alpha Thalassemia 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 1131
Download table as spreadsheet
HGVS dbSNP
NM_000021.3(PSEN1):c.-296C>T rs1800839
NM_000021.4(PSEN1):c.1002C>T (p.Gly334=) rs116640707
NM_000021.4(PSEN1):c.1017A>G (p.Glu339=) rs201776669
NM_000021.4(PSEN1):c.1248+8T>C rs362382
NM_000021.4(PSEN1):c.654A>G (p.Pro218=) rs115760359
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly) rs17125721
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965
NM_000256.3(MYBPC3):c.1056C>G (p.Leu352=) rs375007425
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000256.3(MYBPC3):c.1720C>A (p.Arg574=) rs61897383
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=) rs397515929
NM_000256.3(MYBPC3):c.2149-5C>T rs36211722
NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val) rs3729952
NM_000256.3(MYBPC3):c.2547C>T (p.Val849=) rs3729953
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097
NM_000256.3(MYBPC3):c.2737+12C>T rs3729936
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253
NM_000256.3(MYBPC3):c.3191-7C>T rs373012629
NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=) rs1052373
NM_000256.3(MYBPC3):c.332C>T (p.Ala111Val) rs730880530
NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp) rs727503171
NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=) rs200162906
NM_000256.3(MYBPC3):c.3741C>T (p.Asp1247=) rs543376073
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=) rs150291001
NM_000256.3(MYBPC3):c.472G>A (p.Val158Met) rs3729986
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=) rs3218719
NM_000256.3(MYBPC3):c.501C>T (p.Thr167=) rs397516054
NM_000256.3(MYBPC3):c.506-12del rs11570050
NM_000256.3(MYBPC3):c.537C>T (p.Ala179=) rs11570051
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989
NM_000256.3(MYBPC3):c.786C>T (p.Thr262=) rs11570058
NM_000256.3(MYBPC3):c.927-10C>T rs201078659
NM_000257.4(MYH7):c.*113G>A rs17794387
NM_000257.4(MYH7):c.*20G>A rs45548631
NM_000257.4(MYH7):c.1000-7C>T rs200129563
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712
NM_000257.4(MYH7):c.1119G>A (p.Ala373=) rs572672362
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719
NM_000257.4(MYH7):c.153C>T (p.Ile51=) rs373145667
NM_000257.4(MYH7):c.1749C>T (p.Ala583=) rs758665829
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816
NM_000257.4(MYH7):c.1983C>T (p.Asn661=) rs146474860
NM_000257.4(MYH7):c.2028T>C (p.Asn676=) rs145564868
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645
NM_000257.4(MYH7):c.2526T>C (p.Ser842=) rs554560162
NM_000257.4(MYH7):c.2692C>T (p.Leu898=) rs727504407
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=) rs138294643
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp) rs192722540
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236
NM_000257.4(MYH7):c.3564T>C (p.Thr1188=) rs45587932
NM_000257.4(MYH7):c.3621C>T (p.Ile1207=) rs529700838
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) rs574005462
NM_000257.4(MYH7):c.3853+7C>T rs45467397
NM_000257.4(MYH7):c.3918C>T (p.Leu1306=) rs144420313
NM_000257.4(MYH7):c.3972+15C>T rs3729820
NM_000257.4(MYH7):c.4158C>T (p.Leu1386=) rs886050418
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=) rs200852418
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=) rs3729821
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=) rs45560242
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=) rs2754155
NM_000257.4(MYH7):c.4659C>T (p.His1553=) rs570079347
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=) rs7140196
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=) rs142034311
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700
NM_000257.4(MYH7):c.4908C>T (p.Ala1636=) rs150241539
NM_000257.4(MYH7):c.5394C>T (p.Asp1798=) rs777053791
NM_000257.4(MYH7):c.540C>A (p.Ser180=) rs369490861
NM_000257.4(MYH7):c.5704G>C (p.Glu1902Gln) rs187073962
NM_000257.4(MYH7):c.5718A>C (p.Ala1906=) rs45523233
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570
NM_000257.4(MYH7):c.895+12C>A rs186276057
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124
NM_000337.5(SGCD):c.-179A>G rs77808502
NM_000337.5(SGCD):c.-303A>T rs7725121
NM_000337.5(SGCD):c.-30G>A rs374043017
NM_000337.5(SGCD):c.15G>C (p.Glu5Asp) rs549319429
NM_000337.5(SGCD):c.213G>A (p.Arg71=) rs74846539
NM_000337.5(SGCD):c.290G>A (p.Arg97Gln) rs45559835
NM_000337.5(SGCD):c.294+8T>C rs11748588
NM_000337.5(SGCD):c.507G>A (p.Ala169=) rs10071079
NM_000337.5(SGCD):c.510G>A (p.Glu170=) rs368838376
NM_000337.5(SGCD):c.848A>G (p.Gln283Arg) rs397516338
NM_000447.3(PSEN2):c.129C>T (p.Asn43=) rs6759
NM_000447.3(PSEN2):c.185G>A (p.Arg62His) rs58973334
NM_000447.3(PSEN2):c.261C>T (p.His87=) rs1046240
NM_000447.3(PSEN2):c.336C>T (p.Tyr112=) rs200610057
NM_000447.3(PSEN2):c.441C>T (p.Ser147=) rs114334281
NM_000447.3(PSEN2):c.690C>G (p.Ala230=) rs145010538
NM_000447.3(PSEN2):c.69T>C (p.Ala23=) rs11405
NM_000447.3(PSEN2):c.708T>C (p.Ser236=) rs61730652
NM_000447.3(PSEN2):c.756G>C (p.Ala252=) rs147702142
NM_000447.3(PSEN2):c.903G>T (p.Thr301=) rs6426553
NM_000447.3(PSEN2):c.954C>T (p.Pro318=) rs199587016
NM_000739.2(CHRM2):c.860C>G (p.Thr287Ser) rs138193709
NM_001018005.2(TPM1):c.249C>T (p.Ala83=) rs200257214
NM_001018005.2(TPM1):c.27G>A (p.Gln9=) rs397516365
NM_001018005.2(TPM1):c.453C>A (p.Ala151=) rs1071646
NM_001018005.2(TPM1):c.486T>C (p.Tyr162=) rs11558747
NM_001018005.2(TPM1):c.522C>T (p.Ser174=) rs200173919
NM_001018005.2(TPM1):c.564-11G>A rs532254032
NM_001018005.2(TPM1):c.845C>G (p.Thr282Ser) rs397516395
NM_001080116.1(LDB3):c.456G>A (p.Ala152=) rs371708921
NM_001080116.1(LDB3):c.456G>T (p.Ala152=) rs371708921
NM_001080116.1(LDB3):c.504T>C (p.Asp168=) rs76615432
NM_001080116.1(LDB3):c.546T>C (p.Ser182=) rs71473272
NM_001099404.1(SCN5A):c.5844C>T (p.Ile1948=) rs13324293
NM_001099404.1(SCN5A):c.87A>G (p.Ala29=) rs6599230
NM_001103.3(ACTN2):c.-22C>T rs138279482
NM_001103.3(ACTN2):c.-3G>T rs201920417
NM_001103.3(ACTN2):c.1296G>A (p.Ala432=) rs35956798
NM_001103.3(ACTN2):c.1323G>A (p.Leu441=) rs886039127
NM_001103.3(ACTN2):c.1371C>T (p.Arg457=) rs114008185
NM_001103.3(ACTN2):c.1383C>T (p.Ile461=) rs34827377
NM_001103.3(ACTN2):c.1406+8C>T rs397516567
NM_001103.3(ACTN2):c.1423G>A (p.Asp475Asn) rs80257412
NM_001103.3(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001103.3(ACTN2):c.1452G>A (p.Gln484=) rs200529923
NM_001103.3(ACTN2):c.1810A>G (p.Met604Val) rs35997569
NM_001103.3(ACTN2):c.1864G>A (p.Asp622Asn) rs138452803
NM_001103.3(ACTN2):c.18C>A (p.Pro6=) rs368367224
NM_001103.3(ACTN2):c.2139G>A (p.Thr713=) rs34975493
NM_001103.3(ACTN2):c.2568G>A (p.Pro856=) rs149554430
NM_001103.3(ACTN2):c.2601C>T (p.Pro867=) rs147245615
NM_001103.3(ACTN2):c.2610G>A (p.Ser870=) rs12063382
NM_001103.3(ACTN2):c.2649G>A (p.Ala883=) rs146426213
NM_001103.3(ACTN2):c.546T>C (p.Asp182=) rs34263845
NM_001103.3(ACTN2):c.705G>C (p.Val235=) rs2288599
NM_001103.3(ACTN2):c.777G>A (p.Ala259=) rs764583678
NM_001103.3(ACTN2):c.877-8C>G rs2288601
NM_001103.3(ACTN2):c.918C>T (p.Asn306=) rs148646265
NM_001103.3(ACTN2):c.947T>C (p.Met316Thr) rs370757762
NM_001134363.3(RBM20):c.1053C>T (p.Asp351=) rs192232825
NM_001134363.3(RBM20):c.1135G>A (p.Gly379Arg) rs199842148
NM_001134363.3(RBM20):c.1179C>T (p.Pro393=) rs200588338
NM_001134363.3(RBM20):c.125_127AGC[3] (p.Gln43dup) rs397516593
NM_001134363.3(RBM20):c.1356A>T (p.Ile452=) rs745544964
NM_001134363.3(RBM20):c.1429+10G>T rs778742738
NM_001134363.3(RBM20):c.1527+8C>T rs7077757
NM_001134363.3(RBM20):c.1801-11G>C rs12572941
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001134363.3(RBM20):c.1914G>A (p.Pro638=) rs74339620
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=) rs537723089
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=) rs41292592
NM_001134363.3(RBM20):c.2145C>T (p.Pro715=) rs764304126
NM_001134363.3(RBM20):c.2213C>T (p.Pro738Leu) rs397516601
NM_001134363.3(RBM20):c.2244T>G (p.Ser748=) rs727503388
NM_001134363.3(RBM20):c.2303= (p.Ser768=) rs1417635
NM_001134363.3(RBM20):c.2655+15A>G rs187915202
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser) rs727503392
NM_001134363.3(RBM20):c.3144C>T (p.Ser1048=) rs75858380
NM_001134363.3(RBM20):c.3170G>A (p.Arg1057Gln) rs188054898
NM_001134363.3(RBM20):c.3266C>G (p.Pro1089Arg) rs772708424
NM_001134363.3(RBM20):c.3452-10C>T rs60618533
NM_001134363.3(RBM20):c.3452-9= rs7070640
NM_001134363.3(RBM20):c.3648C>T (p.Ser1216=) rs554167951
NM_001134363.3(RBM20):c.3667G>C (p.Glu1223Gln) rs942077
NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr) rs199868951
NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr) rs7908490
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val) rs202238753
NM_001134363.3(RBM20):c.695G>A (p.Gly232Asp) rs61735268
NM_001134363.3(RBM20):c.717A>T (p.Thr239=) rs886046700
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=) rs187423999
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg) rs201148126
NM_001134363.3(RBM20):c.90G>A (p.Arg30=) rs35141404
NM_001134363.3(RBM20):c.954A>G (p.Gln318=) rs766779254
NM_001267550.1(TTN):c.45599C>G rs201057307
NM_001267550.1(TTN):c.83315A>T rs578191491
NM_001267550.2(TTN):c.*6C>A rs188728343
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=) rs56026369
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile) rs55675869
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr) rs201112096
NM_001267550.2(TTN):c.10024G>A (p.Val3342Ile) rs727503679
NM_001267550.2(TTN):c.1002C>T (p.Thr334=) rs148094198
NM_001267550.2(TTN):c.1003G>A (p.Val335Met) rs72647846
NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser) rs72629779
NM_001267550.2(TTN):c.100579G>A (p.Val33527Ile) rs2278196
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463
NM_001267550.2(TTN):c.10128G>A (p.Ser3376=) rs755262343
NM_001267550.2(TTN):c.101291C>T (p.Ala33764Val) rs773542514
NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=) rs367732133
NM_001267550.2(TTN):c.101406C>G (p.Val33802=) rs55802460
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) rs55886356
NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val) rs56376197
NM_001267550.2(TTN):c.102156G>T (p.Arg34052=) rs376894729
NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr) rs200237973
NM_001267550.2(TTN):c.102519C>T (p.Gly34173=) rs2857265
NM_001267550.2(TTN):c.10256G>A (p.Ser3419Asn) rs2291310
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val) rs56173891
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val) rs3731752
NM_001267550.2(TTN):c.102984C>T (p.Asp34328=) rs541125667
NM_001267550.2(TTN):c.103053C>T (p.Thr34351=) rs3731753
NM_001267550.2(TTN):c.103417G>A (p.Val34473Ile) rs188917199
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala) rs55945684
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His) rs3829747
NM_001267550.2(TTN):c.103913G>A (p.Arg34638His) rs371528685
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=) rs199714102
NM_001267550.2(TTN):c.104277G>A (p.Lys34759=) rs377391143
NM_001267550.2(TTN):c.104365G>A (p.Glu34789Lys) rs190565627
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu) rs72629787
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=) rs56375087
NM_001267550.2(TTN):c.104988C>T (p.Val34996=) rs3829748
NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys) rs200378865
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp) rs56308529
NM_001267550.2(TTN):c.105183G>A (p.Ala35061=) rs371075036
NM_001267550.2(TTN):c.105228G>A (p.Ser35076=) rs55938627
NM_001267550.2(TTN):c.105383C>T (p.Ala35128Val) rs758458467
NM_001267550.2(TTN):c.105384A>G (p.Ala35128=) rs3813250
NM_001267550.2(TTN):c.105406C>T (p.Arg35136Trp) rs372875128
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=) rs55806007
NM_001267550.2(TTN):c.105512C>T (p.Thr35171Ile) rs774524898
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met) rs55865284
NM_001267550.2(TTN):c.105582C>T (p.Ser35194=) rs3829749
NM_001267550.2(TTN):c.105653T>C (p.Ile35218Thr) rs143499441
NM_001267550.2(TTN):c.105782C>T (p.Pro35261Leu) rs16866380
NM_001267550.2(TTN):c.106020T>C (p.Gly35340=) rs148865574
NM_001267550.2(TTN):c.106275G>C (p.Gly35425=) rs56207956
NM_001267550.2(TTN):c.106293T>C (p.Val35431=) rs749108651
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=) rs6725673
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=) rs55838839
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr) rs55880440
NM_001267550.2(TTN):c.106638G>A (p.Arg35546=) rs56324602
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) rs199632397
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile) rs55842557
NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val) rs377337528
NM_001267550.2(TTN):c.1068G>A (p.Glu356=) rs144716589
NM_001267550.2(TTN):c.106920G>A (p.Leu35640=) rs183923129
NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala) rs16866378
NM_001267550.2(TTN):c.107377+14C>T rs367908657
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=) rs371480338
NM_001267550.2(TTN):c.107961T>C (p.His35987=) rs377439315
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr) rs56128843
NM_001267550.2(TTN):c.11312-4478C>T rs151253841
NM_001267550.2(TTN):c.1365G>A (p.Thr455=) rs145211131
NM_001267550.2(TTN):c.1398+4C>T rs368548209
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys) rs2742347
NM_001267550.2(TTN):c.14610C>T (p.Ser4870=) rs2742348
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn) rs184740744
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile) rs72647851
NM_001267550.2(TTN):c.14973T>C (p.Tyr4991=) rs761666344
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927
NM_001267550.2(TTN):c.15178G>A (p.Val5060Ile) rs72648929
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_001267550.2(TTN):c.15717G>A (p.Thr5239=) rs72648932
NM_001267550.2(TTN):c.15792T>C (p.Ile5264=) rs12993099
NM_001267550.2(TTN):c.15831C>T (p.Pro5277=) rs780784090
NM_001267550.2(TTN):c.1585G>A (p.Ala529Thr) rs143030869
NM_001267550.2(TTN):c.15986G>A (p.Gly5329Asp) rs202234492
NM_001267550.2(TTN):c.16056T>C (p.Asp5352=) rs376820575
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=) rs72648935
NM_001267550.2(TTN):c.16113T>C (p.Asn5371=) rs143845692
NM_001267550.2(TTN):c.16275G>A (p.Gly5425=) rs772821743
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys) rs72648939
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942
NM_001267550.2(TTN):c.1743G>A (p.Pro581=) rs138560523
NM_001267550.2(TTN):c.17871A>T (p.Gln5957His) rs181067357
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly) rs146983095
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr) rs35683768
NM_001267550.2(TTN):c.17989G>A (p.Ala5997Thr) rs72648946
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=) rs66523653
NM_001267550.2(TTN):c.18549C>T (p.Asp6183=) rs200549353
NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn) rs201263441
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) rs72648949
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=) rs146219199
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) rs184412722
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile) rs149131555
NM_001267550.2(TTN):c.18903C>T (p.Thr6301=) rs72648950
NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val) rs145204073
NM_001267550.2(TTN):c.19004A>G (p.Asp6335Gly) rs72648951
NM_001267550.2(TTN):c.19191G>A (p.Thr6397=) rs140495148
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val) rs72648954
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn) rs11888217
NM_001267550.2(TTN):c.19356C>T (p.Ser6452=) rs369275615
NM_001267550.2(TTN):c.19383T>C (p.Asn6461=) rs76771282
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser) rs116572520
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met) rs146627500
NM_001267550.2(TTN):c.20418A>C (p.Lys6806Asn) rs768932465
NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val) rs17355446
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val) rs72648960
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn) rs72648962
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=) rs202089818
NM_001267550.2(TTN):c.21273A>G (p.Gln7091=) rs878903172
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr) rs201394117
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=) rs201155967
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His) rs138853909
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr) rs187925021
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp) rs375627540
NM_001267550.2(TTN):c.22077A>T (p.Gly7359=) rs202102237
NM_001267550.2(TTN):c.22080T>C (p.Asp7360=) rs16866473
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His) rs12693166
NM_001267550.2(TTN):c.2244G>A (p.Glu748=) rs6715406
NM_001267550.2(TTN):c.22473C>T (p.Cys7491=) rs566454891
NM_001267550.2(TTN):c.22611T>C (p.His7537=) rs16866469
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln) rs72648969
NM_001267550.2(TTN):c.2270C>T (p.Pro757Leu) rs116307796
NM_001267550.2(TTN):c.22786G>C (p.Asp7596His) rs72648970
NM_001267550.2(TTN):c.22968C>T (p.Asn7656=) rs201904848
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg) rs367826445
NM_001267550.2(TTN):c.23099-3T>C rs2562830
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu) rs17452588
NM_001267550.2(TTN):c.23223G>A (p.Gln7741=) rs2562831
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn) rs72648973
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu) rs149523263
NM_001267550.2(TTN):c.23965C>T (p.Arg7989Cys) rs201653851
NM_001267550.2(TTN):c.24150C>T (p.Ser8050=) rs185062935
NM_001267550.2(TTN):c.24227-15C>T rs397517505
NM_001267550.2(TTN):c.2432C>T (p.Thr811Ile) rs35813871
NM_001267550.2(TTN):c.24345C>T (p.Ser8115=) rs72648977
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala) rs16866465
NM_001267550.2(TTN):c.24471C>T (p.Gly8157=) rs113391261
NM_001267550.2(TTN):c.24516C>T (p.Thr8172=) rs72648978
NM_001267550.2(TTN):c.24579A>G (p.Thr8193=) rs72648979
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly) rs72648982
NM_001267550.2(TTN):c.24905C>A (p.Thr8302Lys) rs549604128
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=) rs72648983
NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile) rs200103997
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu) rs2627043
NM_001267550.2(TTN):c.25274G>A (p.Ser8425Asn) rs13390491
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His) rs149855485
NM_001267550.2(TTN):c.25626G>T (p.Gln8542His) rs2562832
NM_001267550.2(TTN):c.25704G>A (p.Arg8568=) rs150544093
NM_001267550.2(TTN):c.25707T>C (p.Tyr8569=) rs2742329
NM_001267550.2(TTN):c.25758C>T (p.Asp8586=) rs372802604
NM_001267550.2(TTN):c.25921+10C>T rs10183237
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys) rs72648987
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116
NM_001267550.2(TTN):c.26091A>T (p.Leu8697=) rs2562836
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile) rs16866457
NM_001267550.2(TTN):c.26289A>G (p.Glu8763=) rs2562838
NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser) rs12693164
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) rs140003804
NM_001267550.2(TTN):c.26655C>T (p.Ser8885=) rs2562839
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser) rs146057575
NM_001267550.2(TTN):c.26681C>T (p.Pro8894Leu) rs13398235
NM_001267550.2(TTN):c.26682G>A (p.Pro8894=) rs142812510
NM_001267550.2(TTN):c.26762-39TTTGT[11] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[7] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[8] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[9] rs71393436
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys) rs199557654
NM_001267550.2(TTN):c.26991A>G (p.Thr8997=) rs61232800
NM_001267550.2(TTN):c.27498G>A (p.Ser9166=) rs372528823
NM_001267550.2(TTN):c.27654T>G (p.Val9218=) rs780101457
NM_001267550.2(TTN):c.27702T>C (p.Ile9234=) rs143368674
NM_001267550.2(TTN):c.2781A>C (p.Thr927=) rs55892860
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile) rs144930507
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile) rs202160275
NM_001267550.2(TTN):c.28542G>A (p.Glu9514=) rs370604793
NM_001267550.2(TTN):c.28662G>A (p.Arg9554=) rs2742332
NM_001267550.2(TTN):c.29153T>C (p.Ile9718Thr) rs4893852
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=) rs72650003
NM_001267550.2(TTN):c.2949C>T (p.Ile983=) rs56310516
NM_001267550.2(TTN):c.296-14T>C rs199951296
NM_001267550.2(TTN):c.29763T>C (p.Ile9921=) rs2742343
NM_001267550.2(TTN):c.29799G>A (p.Ser9933=) rs2742344
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser) rs72650006
NM_001267550.2(TTN):c.29963-13A>G rs72650008
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=) rs188584219
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met) rs200593368
NM_001267550.2(TTN):c.30512-19dup rs397517532
NM_001267550.2(TTN):c.30683-3del rs368277751
NM_001267550.2(TTN):c.3087T>C (p.Tyr1029=) rs55863869
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys) rs73038324
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505
NM_001267550.2(TTN):c.3132C>T (p.Ala1044=) rs777315600
NM_001267550.2(TTN):c.31456A>T (p.Ile10486Phe) rs772882862
NM_001267550.2(TTN):c.31564A>G (p.Ile10522Val) rs2042995
NM_001267550.2(TTN):c.31764C>T (p.Val10588=) rs766441395
NM_001267550.2(TTN):c.31806C>T (p.Pro10602=) rs370080995
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg) rs2244492
NM_001267550.2(TTN):c.32254G>A (p.Val10752Ile) rs72650028
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val) rs72650029
NM_001267550.2(TTN):c.32393-12A>G rs16866434
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys) rs116676813
NM_001267550.2(TTN):c.32807-10T>A rs138192315
NM_001267550.2(TTN):c.32881A>G (p.Ile10961Val) rs886055284
NM_001267550.2(TTN):c.32954G>C (p.Arg10985Pro) rs181395238
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His) rs36051007
NM_001267550.2(TTN):c.33834G>A (p.Glu11278=) rs35112591
NM_001267550.2(TTN):c.33856G>A (p.Glu11286Lys) rs376874956
NM_001267550.2(TTN):c.33G>A (p.Pro11=) rs138331646
NM_001267550.2(TTN):c.34062A>G (p.Glu11354=) rs886055281
NM_001267550.2(TTN):c.34140A>G (p.Glu11380=) rs147418835
NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr) rs532102837
NM_001267550.2(TTN):c.34241_34243AAG[2] (p.Glu11416del) rs397517549
NM_001267550.2(TTN):c.34379-15A>G rs764544769
NM_001267550.2(TTN):c.34453+12C>A rs74930148
NM_001267550.2(TTN):c.34453+14G>A rs397517550
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp) rs140640738
NM_001267550.2(TTN):c.34601T>C (p.Leu11534Pro) rs376836503
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His) rs59887778
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr) rs189966800
NM_001267550.2(TTN):c.3601A>G (p.Lys1201Glu) rs10497520
NM_001267550.2(TTN):c.3668C>T (p.Ala1223Val) rs78269740
NM_001267550.2(TTN):c.3759A>G (p.Arg1253=) rs2291308
NM_001267550.2(TTN):c.3884C>T (p.Ser1295Leu) rs1552280
NM_001267550.2(TTN):c.39044-15C>T rs749495580
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met) rs73038314
NM_001267550.2(TTN):c.39090G>A (p.Ala13030=) rs375519815
NM_001267550.2(TTN):c.39128-14T>C rs200916144
NM_001267550.2(TTN):c.39183T>A (p.Pro13061=) rs12474306
NM_001267550.2(TTN):c.39616C>T (p.Pro13206Ser) rs186404793
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg) rs72650066
NM_001267550.2(TTN):c.3993C>T (p.Ile1331=) rs55757622
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp) rs36021856
NM_001267550.2(TTN):c.40408+7_40408+10dup rs397517560
NM_001267550.2(TTN):c.40408+8del rs727504922
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe) rs201944202
NM_001267550.2(TTN):c.40576_40578GAA[3] (p.Glu13529del) rs727504199
NM_001267550.2(TTN):c.40701G>A (p.Arg13567=) rs750761966
NM_001267550.2(TTN):c.4076A>G (p.Glu1359Gly) rs370978752
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=) rs72650077
NM_001267550.2(TTN):c.41508T>C (p.Ala13836=) rs55847232
NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val) rs16866531
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=) rs186699871
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg) rs2288563
NM_001267550.2(TTN):c.42156C>T (p.Ile14052=) rs76815324
NM_001267550.2(TTN):c.42219C>T (p.Phe14073=) rs150612172
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys) rs72647875
NM_001267550.2(TTN):c.426C>T (p.Ala142=) rs56137037
NM_001267550.2(TTN):c.42783A>G (p.Lys14261=) rs16866425
NM_001267550.2(TTN):c.42891C>T (p.Gly14297=) rs550471556
NM_001267550.2(TTN):c.42950G>C (p.Arg14317Pro) rs727505144
NM_001267550.2(TTN):c.42958A>G (p.Lys14320Glu) rs6723526
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) rs142317580
NM_001267550.2(TTN):c.4347A>G (p.Ser1449=) rs719202
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=) rs56034831
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=) rs16866423
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys) rs12471771
NM_001267550.2(TTN):c.44529C>T (p.His14843=) rs55973744
NM_001267550.2(TTN):c.44593G>A (p.Glu14865Lys) rs543102139
NM_001267550.2(TTN):c.44599G>A (p.Gly14867Arg) rs144848584
NM_001267550.2(TTN):c.44691G>A (p.Lys14897=) rs755769210
NM_001267550.2(TTN):c.4480+6C>T rs719201
NM_001267550.2(TTN):c.45054G>A (p.Ala15018=) rs781392140
NM_001267550.2(TTN):c.45206A>T (p.Glu15069Val) rs114331773
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn) rs17354992
NM_001267550.2(TTN):c.45526C>T (p.Leu15176=) rs61004744
NM_001267550.2(TTN):c.45738T>C (p.Ala15246=) rs2303829
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn) rs397517583
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val) rs72647877
NM_001267550.2(TTN):c.46483G>A (p.Ala15495Thr) rs537428006
NM_001267550.2(TTN):c.4668G>A (p.Pro1556=) rs145709534
NM_001267550.2(TTN):c.46800A>G (p.Glu15600=) rs190058852
NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met) rs368057764
NM_001267550.2(TTN):c.46880C>T (p.Ala15627Val) rs115813214
NM_001267550.2(TTN):c.46884G>A (p.Lys15628=) rs760251812
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile) rs201717871
NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln) rs12476289
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=) rs76081119
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln) rs72677233
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met) rs73973147
NM_001267550.2(TTN):c.47400G>A (p.Lys15800=) rs114145817
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr) rs146181477
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His) rs72677237
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe) rs138576504
NM_001267550.2(TTN):c.47978C>A (p.Thr15993Asn) rs727503622
NM_001267550.2(TTN):c.48054C>T (p.Ala16018=) rs779940754
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) rs72677242
NM_001267550.2(TTN):c.48996G>A (p.Glu16332=) rs72677244
NM_001267550.2(TTN):c.49263C>T (p.Tyr16421=) rs376188859
NM_001267550.2(TTN):c.49367G>A (p.Arg16456His) rs768914789
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=) rs74321406
NM_001267550.2(TTN):c.49731T>C (p.His16577=) rs2115558
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr) rs55663050
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr) rs36043230
NM_001267550.2(TTN):c.50363T>C (p.Ile16788Thr) rs397517599
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val) rs16866412
NM_001267550.2(TTN):c.51527G>C (p.Gly17176Ala) rs768961892
NM_001267550.2(TTN):c.51678C>T (p.Asn17226=) rs372635204
NM_001267550.2(TTN):c.51684G>A (p.Ala17228=) rs2288566
NM_001267550.2(TTN):c.51782G>A (p.Arg17261Gln) rs201825412
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile) rs200650668
NM_001267550.2(TTN):c.5198C>T (p.Thr1733Met) rs367700246
NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu) rs75686037
NM_001267550.2(TTN):c.52821T>C (p.Asp17607=) rs2303831
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=) rs73036398
NM_001267550.2(TTN):c.52948G>A (p.Ala17650Thr) rs535008556
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His) rs72646808
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile) rs2303832
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809
NM_001267550.2(TTN):c.53260T>C (p.Phe17754Leu) rs397517612
NM_001267550.2(TTN):c.53507G>A (p.Arg17836His) rs373526624
NM_001267550.2(TTN):c.54037G>T (p.Ala18013Ser) rs531242797
NM_001267550.2(TTN):c.542G>A (p.Ser181Asn) rs72647843
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) rs201412693
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) rs141213991
NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu) rs201035511
NM_001267550.2(TTN):c.54855G>A (p.Thr18285=) rs200410212
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=) rs62178963
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg) rs72646823
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln) rs140714512
NM_001267550.2(TTN):c.56101A>G (p.Asn18701Asp) rs1001238
NM_001267550.2(TTN):c.56264G>A (p.Arg18755His) rs772767570
NM_001267550.2(TTN):c.56403A>G (p.Gln18801=) rs553313488
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys) rs146496197
NM_001267550.2(TTN):c.56871C>T (p.Ser18957=) rs370619063
NM_001267550.2(TTN):c.56910C>T (p.Gly18970=) rs148299739
NM_001267550.2(TTN):c.57315T>C (p.His19105=) rs35833641
NM_001267550.2(TTN):c.57648C>T (p.Ile19216=) rs55956577
NM_001267550.2(TTN):c.58226G>A (p.Arg19409His) rs201505306
NM_001267550.2(TTN):c.58419A>G (p.Gln19473=) rs186563991
NM_001267550.2(TTN):c.58426G>A (p.Val19476Ile) rs397517636
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His) rs2288569
NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile) rs377682563
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=) rs2303836
NM_001267550.2(TTN):c.59165T>C (p.Val19722Ala) rs116592778
NM_001267550.2(TTN):c.59319G>A (p.Glu19773=) rs367622770
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=) rs188063446
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu) rs16866406
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=) rs72646842
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=) rs202017608
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln) rs200212521
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu) rs72646845
NM_001267550.2(TTN):c.61029T>C (p.Phe20343=) rs6706088
NM_001267550.2(TTN):c.61245A>G (p.Thr20415=) rs2163009
NM_001267550.2(TTN):c.61276C>T (p.Leu20426Phe) rs377529060
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260
NM_001267550.2(TTN):c.62011G>A (p.Glu20671Lys) rs770684884
NM_001267550.2(TTN):c.62058T>C (p.Tyr20686=) rs1560221
NM_001267550.2(TTN):c.62275G>A (p.Glu20759Lys) rs562680371
NM_001267550.2(TTN):c.62280T>C (p.Val20760=) rs372065796
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala) rs200689750
NM_001267550.2(TTN):c.62673T>C (p.Asp20891=) rs374354363
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=) rs375006117
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile) rs72646850
NM_001267550.2(TTN):c.63287T>A (p.Ile21096Asn) rs558727238
NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp) rs200726948
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr) rs56404770
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855
NM_001267550.2(TTN):c.63876C>T (p.Asn21292=) rs199598302
NM_001267550.2(TTN):c.63879C>T (p.Asp21293=) rs200463088
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=) rs72646857
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile) rs2042996
NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg) rs181717727
NM_001267550.2(TTN):c.6508+15T>C rs747722195
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys) rs72646861
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu) rs13021201
NM_001267550.2(TTN):c.65173G>A (p.Val21725Ile) rs368716894
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile) rs56130023
NM_001267550.2(TTN):c.65499A>G (p.Arg21833=) rs369255906
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val) rs55948748
NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu) rs201662134
NM_001267550.2(TTN):c.65633G>C (p.Gly21878Ala) rs767001973
NM_001267550.2(TTN):c.65682A>G (p.Thr21894=) rs4894029
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr) rs146941600
NM_001267550.2(TTN):c.65743C>A (p.Gln21915Lys) rs62618736
NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln) rs148849567
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=) rs72646867
NM_001267550.2(TTN):c.66160+15C>T rs377288086
NM_001267550.2(TTN):c.66283C>T (p.Arg22095Trp) rs571093313
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys) rs72646869
NM_001267550.2(TTN):c.66702C>T (p.Ala22234=) rs371802557
NM_001267550.2(TTN):c.66898G>A (p.Val22300Ile) rs200343420
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile) rs2303838
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn) rs727503577
NM_001267550.2(TTN):c.67246G>C (p.Ala22416Pro) rs4145333
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr) rs138787974
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) rs72646876
NM_001267550.2(TTN):c.67635T>C (p.Val22545=) rs2288570
NM_001267550.2(TTN):c.67833C>T (p.Tyr22611=) rs375538420
NM_001267550.2(TTN):c.6790+12C>T rs200187117
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=) rs11904444
NM_001267550.2(TTN):c.68217T>C (p.His22739=) rs10497517
NM_001267550.2(TTN):c.68391G>A (p.Pro22797=) rs368985748
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys) rs200797552
NM_001267550.2(TTN):c.68458G>C (p.Ala22820Pro) rs72646880
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498
NM_001267550.2(TTN):c.69145A>G (p.Ile23049Val) rs72646881
NM_001267550.2(TTN):c.69231T>C (p.Leu23077=) rs12615797
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=) rs67041405
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) rs115658240
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=) rs369503828
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) rs55801134
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238
NM_001267550.2(TTN):c.70830C>T (p.Ser23610=) rs12464787
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val) rs72646891
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His) rs56071233
NM_001267550.2(TTN):c.71058G>A (p.Ala23686=) rs375183437
NM_001267550.2(TTN):c.71369G>A (p.Arg23790His) rs55677134
NM_001267550.2(TTN):c.71373T>G (p.Leu23791=) rs56245285
NM_001267550.2(TTN):c.7156G>A (p.Gly2386Ser) rs777101912
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr) rs55837610
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser) rs4894048
NM_001267550.2(TTN):c.71883T>C (p.Val23961=) rs368692510
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=) rs72646893
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His) rs10164753
NM_001267550.2(TTN):c.72033A>G (p.Pro24011=) rs72646894
NM_001267550.2(TTN):c.72113C>T (p.Thr24038Met) rs370375696
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) rs56399205
NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys) rs149763294
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=) rs56293906
NM_001267550.2(TTN):c.72766A>G (p.Asn24256Asp) rs187868672
NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln) rs142874389
NM_001267550.2(TTN):c.72C>G (p.Thr24=) rs876657615
NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala) rs182491843
NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr) rs201804005
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) rs55762754
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly) rs573415766
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val) rs72646898
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys) rs744426
NM_001267550.2(TTN):c.74891C>T (p.Pro24964Leu) rs72646899
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr) rs744427
NM_001267550.2(TTN):c.75194A>G (p.His25065Arg) rs182161195
NM_001267550.2(TTN):c.7545C>T (p.Tyr2515=) rs2291306
NM_001267550.2(TTN):c.75522A>C (p.Ala25174=) rs6732060
NM_001267550.2(TTN):c.75969T>C (p.Val25323=) rs368759398
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=) rs140350441
NM_001267550.2(TTN):c.7619G>A (p.Arg2540His) rs397517725
NM_001267550.2(TTN):c.76296T>C (p.Asp25432=) rs868081432
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn) rs3813243
NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val) rs201095164
NM_001267550.2(TTN):c.76674T>C (p.Asp25558=) rs375553630
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His) rs3813245
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=) rs55696153
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) rs369707906
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser) rs3813246
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala) rs56018860
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys) rs56341835
NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser) rs186681106
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile) rs56142888
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr) rs12463674
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=) rs139953862
NM_001267550.2(TTN):c.78906A>C (p.Glu26302Asp) rs534003014
NM_001267550.2(TTN):c.79062T>A (p.Gly26354=) rs3731744
NM_001267550.2(TTN):c.79155G>A (p.Val26385=) rs377618488
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His) rs72648206
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr) rs3731745
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys) rs55861600
NM_001267550.2(TTN):c.79689C>A (p.Val26563=) rs10185798
NM_001267550.2(TTN):c.79856G>A (p.Arg26619His) rs530507211
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met) rs3731746
NM_001267550.2(TTN):c.80115G>T (p.Glu26705Asp) rs558830502
NM_001267550.2(TTN):c.80145C>G (p.Val26715=) rs761074887
NM_001267550.2(TTN):c.80271C>T (p.Val26757=) rs199875474
NM_001267550.2(TTN):c.80553C>T (p.Phe26851=) rs189790119
NM_001267550.2(TTN):c.80586C>T (p.Ser26862=) rs748292845
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys) rs79926414
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile) rs374620001
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val) rs201562505
NM_001267550.2(TTN):c.80799C>A (p.Thr26933=) rs3813247
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met) rs377506142
NM_001267550.2(TTN):c.80904C>T (p.Ile26968=) rs539234338
NM_001267550.2(TTN):c.80944T>C (p.Phe26982Leu) rs200406978
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=) rs56181243
NM_001267550.2(TTN):c.81855C>T (p.Ile27285=) rs56214710
NM_001267550.2(TTN):c.81938G>A (p.Gly27313Glu) rs199670463
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr) rs56365600
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala) rs56137800
NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys) rs201489661
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys) rs55933739
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln) rs201958805
NM_001267550.2(TTN):c.82497C>T (p.Thr27499=) rs199629314
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys) rs56264840
NM_001267550.2(TTN):c.82575G>A (p.Thr27525=) rs11896779
NM_001267550.2(TTN):c.82688G>A (p.Arg27563His) rs118079537
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val) rs55634791
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=) rs56345408
NM_001267550.2(TTN):c.82798G>A (p.Ala27600Thr) rs11896637
NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser) rs199929362
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile) rs56309296
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His) rs185002960
NM_001267550.2(TTN):c.83080C>T (p.Arg27694Cys) rs192360370
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val) rs3829746
NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln) rs376820301
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala) rs200775919
NM_001267550.2(TTN):c.83673T>C (p.Gly27891=) rs2366751
NM_001267550.2(TTN):c.83985C>T (p.Asn27995=) rs766611189
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val) rs201348580
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys) rs56057221
NM_001267550.2(TTN):c.84405T>C (p.Tyr28135=) rs756176112
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=) rs73036373
NM_001267550.2(TTN):c.84696A>C (p.Glu28232Asp) rs397517730
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys) rs192152102
NM_001267550.2(TTN):c.8492G>A (p.Ser2831Asn) rs2306636
NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln) rs200843338
NM_001267550.2(TTN):c.85541A>T (p.Lys28514Met) rs886055234
NM_001267550.2(TTN):c.86052T>C (p.Thr28684=) rs76928874
NM_001267550.2(TTN):c.86658G>A (p.Glu28886=) rs760858743
NM_001267550.2(TTN):c.86683G>A (p.Val28895Met) rs201290358
NM_001267550.2(TTN):c.86811A>G (p.Val28937=) rs55972010
NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile) rs201687390
NM_001267550.2(TTN):c.87087T>C (p.Leu29029=) rs12621078
NM_001267550.2(TTN):c.87137T>G (p.Met29046Arg) rs143975327
NM_001267550.2(TTN):c.87669T>C (p.His29223=) rs72648229
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile) rs141624266
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys) rs191482653
NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser) rs183013408
NM_001267550.2(TTN):c.88134A>G (p.Pro29378=) rs374612925
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr) rs9808377
NM_001267550.2(TTN):c.88272G>A (p.Glu29424=) rs9808036
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys) rs200513274
NM_001267550.2(TTN):c.88721G>A (p.Arg29574His) rs111727915
NM_001267550.2(TTN):c.88858C>T (p.Leu29620=) rs115070904
NM_001267550.2(TTN):c.8902+14T>A rs13388274
NM_001267550.2(TTN):c.8919C>G (p.Ser2973=) rs4894045
NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu) rs77853750
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237
NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met) rs369855092
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His) rs149567378
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly) rs150430592
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys) rs11887722
NM_001267550.2(TTN):c.91071T>G (p.Thr30357=) rs11897366
NM_001267550.2(TTN):c.91557T>C (p.Asp30519=) rs202185465
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val) rs182549226
NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg) rs200854704
NM_001267550.2(TTN):c.91852+8T>A rs56145100
NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr) rs369342933
NM_001267550.2(TTN):c.92058C>T (p.Asn30686=) rs545632095
NM_001267550.2(TTN):c.92131G>A (p.Val30711Met) rs747122
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val) rs16866391
NM_001267550.2(TTN):c.92506A>C (p.Thr30836Pro) rs762590394
NM_001267550.2(TTN):c.9267G>A (p.Gln3089=) rs764189986
NM_001267550.2(TTN):c.92699A>G (p.Asn30900Ser) rs186234393
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile) rs200476500
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=) rs11694623
NM_001267550.2(TTN):c.93243C>T (p.Ala31081=) rs3731748
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=) rs35445420
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His) rs141258018
NM_001267550.2(TTN):c.93524G>A (p.Arg31175His) rs72648251
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln) rs72647894
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=) rs200173934
NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile) rs67665715
NM_001267550.2(TTN):c.9461A>G (p.Lys3154Arg) rs4893853
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=) rs376539252
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=) rs72648255
NM_001267550.2(TTN):c.94863C>T (p.His31621=) rs373871146
NM_001267550.2(TTN):c.95016T>C (p.Thr31672=) rs367549998
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn) rs116567963
NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly) rs72648257
NM_001267550.2(TTN):c.95078C>A (p.Ala31693Asp) rs2288326
NM_001267550.2(TTN):c.95196G>A (p.Pro31732=) rs752309744
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=) rs72648258
NM_001267550.2(TTN):c.95553C>T (p.Ser31851=) rs72648260
NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro) rs62621206
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr) rs72648263
NM_001267550.2(TTN):c.9597A>G (p.Glu3199=) rs2291312
NM_001267550.2(TTN):c.96030A>G (p.Glu32010=) rs144101806
NM_001267550.2(TTN):c.96158T>C (p.Ile32053Thr) rs62621236
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln) rs374063064
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=) rs376532382
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn) rs200540781
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=) rs369626133
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile) rs56027402
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=) rs376810671
NM_001267550.2(TTN):c.97435C>A (p.Arg32479Ser) rs200148139
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His) rs3731749
NM_001267550.2(TTN):c.97742G>T (p.Gly32581Val) rs397517771
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His) rs55704830
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830
NM_001267550.2(TTN):c.97795+6G>T rs3731750
NM_001267550.2(TTN):c.9781G>A (p.Val3261Met) rs2291311
NM_001267550.2(TTN):c.97859C>T (p.Ala32620Val) rs397517772
NM_001267550.2(TTN):c.98098+9T>A rs2288325
NM_001267550.2(TTN):c.98164A>T (p.Ile32722Phe) rs72648270
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) rs72648272
NM_001267550.2(TTN):c.98267C>T (p.Thr32756Ile) rs199805060
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys) rs16866538
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=) rs138968178
NM_001267550.2(TTN):c.98556T>C (p.Gly32852=) rs373853269
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=) rs55977045
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser) rs367979582
NM_001267550.2(TTN):c.9879A>G (p.Glu3293=) rs4894043
NM_001267550.2(TTN):c.98912G>A (p.Arg32971His) rs4894028
NM_001267550.2(TTN):c.98989+12A>C rs72648275
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=) rs368686031
NM_001267550.2(TTN):c.99415A>G (p.Lys33139Glu) rs779723670
NM_001267550.2(TTN):c.99567C>T (p.Leu33189=) rs745708104
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu) rs397517781
NM_001276345.2(TNNT2):c.163+12G>A rs45580032
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=) rs3729845
NM_001276345.2(TNNT2):c.270C>G (p.Pro90=) rs140245123
NM_001276345.2(TNNT2):c.294+7G>A rs45490292
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=) rs3729547
NM_001276345.2(TNNT2):c.474G>C (p.Arg158=) rs35914325
NM_001276345.2(TNNT2):c.52+7G>A rs374443596
NM_001276345.2(TNNT2):c.53-11_53-7del rs45533739
NM_001276345.2(TNNT2):c.601-8C>T rs397516475
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr) rs45520032
NM_001276345.2(TNNT2):c.720-5T>G rs730881092
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg) rs3730238
NM_001330.3(CTF1):c.120C>T (p.Tyr40=) rs8059269
NM_001330.3(CTF1):c.144+7G>T rs374359365
NM_001330.3(CTF1):c.145-10G>A rs397516645
NM_001330.3(CTF1):c.275C>A (p.Ala92Glu) rs727502949
NM_001330.3(CTF1):c.588G>T (p.Leu196=) rs761082716
NM_001330.3(CTF1):c.591C>G (p.Pro197=) rs397516652
NM_001927.4(DES):c.-44G>A rs184826121
NM_001927.4(DES):c.1026C>T (p.Asn342=) rs61731508
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549
NM_001927.4(DES):c.18G>A (p.Ser6=) rs199972656
NM_001927.4(DES):c.372G>A (p.Glu124=) rs34365369
NM_001927.4(DES):c.408C>T (p.Leu136=) rs111828114
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979
NM_001927.4(DES):c.792C>T (p.Asp264=) rs150370918
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_001927.4(DES):c.924C>T (p.Asn308=) rs578191306
NM_001943.5(DSG2):c.1280+4AG[3] rs876657791
NM_001943.5(DSG2):c.147C>T (p.Arg49=) rs531036279
NM_001943.5(DSG2):c.1543G>A (p.Val515Ile) rs2230235
NM_001943.5(DSG2):c.15G>C (p.Pro5=) rs772663614
NM_001943.5(DSG2):c.1914A>G (p.Gly638=) rs200395484
NM_001943.5(DSG2):c.217-5G>T rs80073511
NM_001943.5(DSG2):c.2234C>T (p.Thr745Met) rs727504783
NM_001943.5(DSG2):c.2318G>A (p.Arg773Lys) rs2278792
NM_001943.5(DSG2):c.2335-9T>C rs757355636
NM_001943.5(DSG2):c.2505A>G (p.Thr835=) rs1042769
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu) rs16962093
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776
NM_001943.5(DSG2):c.3243C>T (p.Val1081=) rs11542379
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489
NM_001943.5(DSG2):c.3321T>C (p.Val1107=) rs1791235
NM_001943.5(DSG2):c.390C>T (p.Tyr130=) rs369489095
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409
NM_001943.5(DSG2):c.524-9T>A rs11876289
NM_001943.5(DSG2):c.6G>A (p.Ala2=) rs368809971
NM_001943.5(DSG2):c.706A>G (p.Thr236Ala) rs727502985
NM_001943.5(DSG2):c.852T>C (p.Asn284=) rs62095193
NM_001943.5(DSG2):c.861C>T (p.Asn287=) rs2230233
NM_001943.5(DSG2):c.877A>G (p.Ile293Val) rs2230234
NM_001943.5(DSG2):c.990C>T (p.Asn330=) rs140575919
NM_002471.3(MYH6):c.-5C>A rs183611755
NM_002471.3(MYH6):c.-64G>C rs79618123
NM_002471.3(MYH6):c.-8G>A rs28730779
NM_002471.3(MYH6):c.1071C>T (p.Ile357=) rs58131640
NM_002471.3(MYH6):c.1122G>A (p.Ala374=) rs148091079
NM_002471.3(MYH6):c.1131C>T (p.Asp377=) rs61742472
NM_002471.3(MYH6):c.1244G>C (p.Gly415Ala) rs759520932
NM_002471.3(MYH6):c.1335C>T (p.Asn445=) rs61731179
NM_002471.3(MYH6):c.1410C>T (p.Asp470=) rs139886074
NM_002471.3(MYH6):c.166G>A (p.Gly56Arg) rs28711516
NM_002471.3(MYH6):c.1753G>A (p.Gly585Ser) rs150415679
NM_002471.3(MYH6):c.1809C>T (p.Asn603=) rs186134696
NM_002471.3(MYH6):c.1944G>A (p.Thr648=) rs367742240
NM_002471.3(MYH6):c.2097C>T (p.Gly699=) rs149734381
NM_002471.3(MYH6):c.2151C>T (p.Tyr717=) rs76202964
NM_002471.3(MYH6):c.2430-14C>T rs190342289
NM_002471.3(MYH6):c.2685+14A>T rs765118655
NM_002471.3(MYH6):c.2806G>T (p.Ala936Ser) rs141704264
NM_002471.3(MYH6):c.2928+5G>A rs28730772
NM_002471.3(MYH6):c.2946G>A (p.Glu982=) rs145274612
NM_002471.3(MYH6):c.3164G>A (p.Arg1055Gln) rs540893860
NM_002471.3(MYH6):c.3199A>G (p.Ser1067Gly) rs145508517
NM_002471.3(MYH6):c.3302T>C (p.Val1101Ala) rs365990
NM_002471.3(MYH6):c.330G>A (p.Ala110=) rs77679218
NM_002471.3(MYH6):c.3388G>A (p.Ala1130Thr) rs28730771
NM_002471.3(MYH6):c.3408G>A (p.Lys1136=) rs28730770
NM_002471.3(MYH6):c.3480C>T (p.Ser1160=) rs373345984
NM_002471.3(MYH6):c.3604G>A (p.Val1202Met) rs368451573
NM_002471.3(MYH6):c.3609C>G (p.Ala1203=) rs149369904
NM_002471.3(MYH6):c.3627C>T (p.Ile1209=) rs147871745
NM_002471.3(MYH6):c.36G>A (p.Ala12=) rs141014719
NM_002471.3(MYH6):c.393G>A (p.Leu131=) rs17277970
NM_002471.3(MYH6):c.3978+8C>T rs367866050
NM_002471.3(MYH6):c.3979-10C>A rs28730768
NM_002471.3(MYH6):c.3979-10C>G rs28730768
NM_002471.3(MYH6):c.3979-11C>G rs200618133
NM_002471.3(MYH6):c.3979-14C>A rs372226248
NM_002471.3(MYH6):c.3979-17dup rs193922652
NM_002471.3(MYH6):c.3979-7del rs397516766
NM_002471.3(MYH6):c.3979-8C>T rs555976716
NM_002471.3(MYH6):c.3979-8del rs193922652
NM_002471.3(MYH6):c.399G>A (p.Val133=) rs78891557
NM_002471.3(MYH6):c.4011G>A (p.Ser1337=) rs451794
NM_002471.3(MYH6):c.411G>A (p.Glu137=) rs2277474
NM_002471.3(MYH6):c.4206C>T (p.Ala1402=) rs111638554
NM_002471.3(MYH6):c.427C>A (p.Arg143=) rs2277473
NM_002471.3(MYH6):c.4293G>A (p.Met1431Ile) rs201016285
NM_002471.3(MYH6):c.4320T>A (p.Ala1440=) rs145566711
NM_002471.3(MYH6):c.4359+10G>A rs368183862
NM_002471.3(MYH6):c.4359+13C>T rs8022522
NM_002471.3(MYH6):c.4360-7C>T rs58949384
NM_002471.3(MYH6):c.4527G>A (p.Glu1509=) rs34855944
NM_002471.3(MYH6):c.4651-12A>C rs193922653
NM_002471.3(MYH6):c.4695A>G (p.Leu1565=) rs374702183
NM_002471.3(MYH6):c.4778A>T (p.Gln1593Leu) rs45574136
NM_002471.3(MYH6):c.4838T>C (p.Val1613Ala) rs61742476
NM_002471.3(MYH6):c.4906C>T (p.Arg1636Cys) rs149460065
NM_002471.3(MYH6):c.4914T>C (p.Ala1638=) rs178640
NM_002471.3(MYH6):c.4959+12C>T rs371661383
NM_002471.3(MYH6):c.4959+13G>A rs28730765
NM_002471.3(MYH6):c.4960-9G>A rs557113705
NM_002471.3(MYH6):c.4980C>T (p.Asp1660=) rs382872
NM_002471.3(MYH6):c.5112G>A (p.Ala1704=) rs150450178
NM_002471.3(MYH6):c.5259C>T (p.Ala1753=) rs8004990
NM_002471.3(MYH6):c.5367G>A (p.Glu1789=) rs753335327
NM_002471.3(MYH6):c.5403G>A (p.Glu1801=) rs762151922
NM_002471.3(MYH6):c.5410C>A (p.Gln1804Lys) rs144571463
NM_002471.3(MYH6):c.5439G>A (p.Gln1813=) rs200854143
NM_002471.3(MYH6):c.5475G>A (p.Glu1825=) rs79143968
NM_002471.3(MYH6):c.5566-7C>T rs200509899
NM_002471.3(MYH6):c.5598A>G (p.Leu1866=) rs17091278
NM_002471.3(MYH6):c.5652C>T (p.Ala1884=) rs200662317
NM_002471.3(MYH6):c.800-11A>G rs434273
NM_002471.3(MYH6):c.831G>T (p.Gln277His) rs140660481
NM_002471.3(MYH6):c.86G>A (p.Arg29Gln) rs150574114
NM_002471.3(MYH6):c.909G>A (p.Leu303=) rs17091623
NM_002471.3(MYH6):c.981C>T (p.Ser327=) rs148407931
NM_002471.3(MYH6):c.999C>T (p.Thr333=) rs78107039
NM_003276.2(TMPO):c.1222A>G (p.Ile408Val) rs143232629
NM_003276.2(TMPO):c.1246A>G (p.Lys416Glu) rs11838270
NM_003276.2(TMPO):c.1309G>C (p.Val437Leu) rs145703021
NM_003276.2(TMPO):c.1434G>C (p.Lys478Asn) rs35761089
NM_003276.2(TMPO):c.1471T>G (p.Ser491Ala) rs80325832
NM_003276.2(TMPO):c.1632T>A (p.Ile544=) rs12316677
NM_003276.2(TMPO):c.1795C>G (p.Gln599Glu) rs17459334
NM_003276.2(TMPO):c.1949G>A (p.Arg650His) rs138295270
NM_003276.2(TMPO):c.2068C>T (p.Arg690Cys) rs17028450
NM_003276.2(TMPO):c.252G>T (p.Ala84=) rs727504659
NM_003276.2(TMPO):c.396T>A (p.Gly132=) rs397516844
NM_003276.2(TMPO):c.686C>T (p.Thr229Ile) rs138790561
NM_003276.2(TMPO):c.713T>G (p.Leu238Arg) rs35998138
NM_003276.2(TMPO):c.81G>T (p.Leu27=) rs549257131
NM_003276.2(TMPO):c.877T>G (p.Ser293Ala) rs35645287
NM_003276.2(TMPO):c.925G>C (p.Ala309Pro) rs114939776
NM_003276.2(TMPO):c.950C>G (p.Thr317Ser) rs35969221
NM_003280.3(TNNC1):c.108C>A (p.Ile36=) rs202000367
NM_003280.3(TNNC1):c.210C>T (p.Gly70=) rs141505676
NM_003280.3(TNNC1):c.387G>C (p.Thr129=) rs397516845
NM_003280.3(TNNC1):c.55+9C>A rs750647348
NM_003373.4(VCL):c.2388G>A (p.Pro796=) rs767809
NM_003476.4(CSRP3):c.-74A>C rs45498797
NM_003476.5(CSRP3):c.150G>A (p.Ala50=) rs7124801
NM_003476.5(CSRP3):c.213C>T (p.Ile71=) rs45476991
NM_003476.5(CSRP3):c.312C>G (p.Thr104=) rs45582433
NM_003476.5(CSRP3):c.336G>A (p.Ala112=) rs13451
NM_003673.3(TCAP):c.453A>C (p.Ala151=) rs1053651
NM_003673.3(TCAP):c.60C>G (p.Ala20=) rs146502276
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser) rs140170914
NM_004100.5(EYA4):c.1107+10C>G rs752586864
NM_004100.5(EYA4):c.1739-64G>A rs143208937
NM_004100.5(EYA4):c.347C>T (p.Ala116Val) rs747223436
NM_004100.5(EYA4):c.580+14_580+16del rs139659489
NM_004100.5(EYA4):c.829G>A (p.Gly277Ser) rs9493627
NM_004100.5(EYA4):c.866C>T (p.Thr289Met) rs41286200
NM_004100.5(EYA4):c.888G>A (p.Ser296=) rs768010410
NM_004100.5(EYA4):c.987G>T (p.Met329Ile) rs146144708
NM_004281.3(BAG3):c.-17G>A rs200388926
NM_004281.3(BAG3):c.1240G>A (p.Glu414Lys) rs117749531
NM_004281.3(BAG3):c.1436C>T (p.Ala479Val) rs34656239
NM_004281.3(BAG3):c.1588G>A (p.Val530Met) rs144678100
NM_004281.3(BAG3):c.181-15C>T rs397516882
NM_004281.3(BAG3):c.212G>A (p.Arg71Gln) rs35434411
NM_004281.3(BAG3):c.231G>A (p.Pro77=) rs143752613
NM_004281.3(BAG3):c.415C>T (p.Arg139Trp) rs556465096
NM_004281.3(BAG3):c.463G>A (p.Ala155Thr) rs61756328
NM_004281.3(BAG3):c.465A>G (p.Ala155=) rs775151738
NM_004281.3(BAG3):c.467C>G (p.Ala156Gly) rs572038196
NM_004281.3(BAG3):c.468_470GGC[4] (p.Ala160dup) rs139438727
NM_004281.3(BAG3):c.549C>G (p.Ser183=) rs112929734
NM_004281.3(BAG3):c.606G>T (p.Pro202=) rs74157690
NM_004281.3(BAG3):c.855G>A (p.Thr285=) rs147259596
NM_004281.3(BAG3):c.888C>T (p.His296=) rs139399890
NM_004281.3(BAG3):c.898G>A (p.Asp300Asn) rs78439745
NM_005159.5(ACTC1):c.-36C>G rs886051091
NM_005159.5(ACTC1):c.1053G>C (p.Leu351=) rs151321743
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met) rs397517057
NM_005159.5(ACTC1):c.537T>A (p.Arg179=) rs750131288
NM_005159.5(ACTC1):c.809-58TG[17] rs59431308
NM_005159.5(ACTC1):c.809-58TG[21] rs59431308
NM_005159.5(ACTC1):c.927T>C (p.Pro309=) rs2307493
NM_005572.3(LMNA):c.1698C>T (p.His566=) rs4641
NM_005691.3(ABCC9):c.-11T>C rs72559432
NM_005691.3(ABCC9):c.1164+11= rs4762720
NM_005691.3(ABCC9):c.1165-19dup rs35857705
NM_005691.3(ABCC9):c.1165-6del rs35857705
NM_005691.3(ABCC9):c.1165-7_1165-6del rs35857705
NM_005691.3(ABCC9):c.1296= (p.Pro432=) rs10770865
NM_005691.3(ABCC9):c.1332C>T (p.Gly444=) rs369830406
NM_005691.3(ABCC9):c.1557G>A (p.Glu519=) rs143346402
NM_005691.3(ABCC9):c.1659+10T>C rs201753781
NM_005691.3(ABCC9):c.1848C>T (p.Asp616=) rs61001398
NM_005691.3(ABCC9):c.2199-11= rs697250
NM_005691.3(ABCC9):c.2199-6T>C rs535477725
NM_005691.3(ABCC9):c.2238-17del rs4148670
NM_005691.3(ABCC9):c.2424+9T>C rs11835804
NM_005691.3(ABCC9):c.2631G>A (p.Thr877=) rs139408145
NM_005691.3(ABCC9):c.2644-11G>A rs61926078
NM_005691.3(ABCC9):c.2770-13A>G rs184123387
NM_005691.3(ABCC9):c.2826T>C (p.Tyr942=) rs141025897
NM_005691.3(ABCC9):c.2862C>T (p.Asp954=) rs2291550
NM_005691.3(ABCC9):c.372T>C (p.Asn124=) rs377384557
NM_005691.3(ABCC9):c.407-14C>A rs201279882
NM_005691.3(ABCC9):c.574-5C>A rs3759236
NM_007078.3(LDB3):c.-24+8T>C rs2803558
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139
NM_007078.3(LDB3):c.689+3861C>T rs754704023
NM_007078.3(LDB3):c.690-4617G>A rs754174632
NM_007078.3(LDB3):c.690-4842G>A rs113445294
NM_007078.3(LDB3):c.690-4A>G rs45529531
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165
NM_014000.2(VCL):c.1290C>T (p.Asp430=) rs576271894
NM_014000.2(VCL):c.1407C>T (p.Ala469=) rs2229507
NM_014000.2(VCL):c.1506G>A (p.Arg502=) rs2228373
NM_014000.2(VCL):c.1542C>T (p.Val514=) rs7904077
NM_014000.2(VCL):c.1543+8C>G rs886047218
NM_014000.2(VCL):c.1607C>A (p.Pro536His) rs200624351
NM_014000.2(VCL):c.1671C>T (p.Asp557=) rs137877092
NM_014000.2(VCL):c.1716T>G (p.Leu572=) rs189781480
NM_014000.2(VCL):c.2427C>T (p.Ser809=) rs183739128
NM_014000.2(VCL):c.2472C>G (p.Ile824Met) rs140381835
NM_014000.2(VCL):c.2521G>C (p.Asp841His) rs150385900
NM_014000.2(VCL):c.2746-8C>T rs532645343
NM_014000.2(VCL):c.2801C>T (p.Ala934Val) rs16931179
NM_014000.2(VCL):c.2802C>T (p.Ala934=) rs372381809
NM_014000.2(VCL):c.2814C>G (p.Gly938=) rs2131956
NM_014000.2(VCL):c.3186G>A (p.Gln1062=) rs761534024
NM_014000.2(VCL):c.3258+10A>T rs71579379
NM_014000.2(VCL):c.339G>A (p.Arg113=) rs56314318
NM_014000.2(VCL):c.378C>T (p.Phe126=) rs148966602
NM_014000.2(VCL):c.45G>A (p.Pro15=) rs775062250
NM_014000.2(VCL):c.492T>G (p.Leu164=) rs143702799
NM_014000.2(VCL):c.768T>C (p.Asp256=) rs56413529
NM_014000.2(VCL):c.789T>C (p.Thr263=) rs538002543
NM_014000.2(VCL):c.945C>A (p.Gly315=) rs61731180
NM_014391.2(ANKRD1):c.-145T>C rs10881855
NM_014391.2(ANKRD1):c.-17A>G rs79341122
NM_014391.2(ANKRD1):c.-34C>T rs114144205
NM_014391.2(ANKRD1):c.346-15T>A rs11595794
NM_014391.2(ANKRD1):c.346-15_346-14del rs794728971
NM_014391.2(ANKRD1):c.346-17_346-10del rs397517250
NM_014391.2(ANKRD1):c.346-21ATTT[2] rs397517250
NM_014391.2(ANKRD1):c.346-29_346-12del rs72003210
NM_014391.2(ANKRD1):c.348G>A (p.Thr116=) rs137914723
NM_014391.2(ANKRD1):c.652-13del rs3839929
NM_133378.4(TTN):c.13451-7C>T rs371785683
NM_133378.4(TTN):c.14009-9A>G rs72648944
NM_133378.4(TTN):c.26492-8T>G rs72650010
NM_133378.4(TTN):c.28030+5G>A rs145387989
NM_133378.4(TTN):c.29608+10T>C rs72650039
NM_133378.4(TTN):c.32930-9A>G rs373511249
NM_133378.4(TTN):c.37379-10A>G rs72677222
NM_133378.4(TTN):c.40756+8C>T rs2288565
NM_133378.4(TTN):c.45878-4A>G rs772324772
NM_133378.4(TTN):c.47728+5G>C rs754717390
NM_133378.4(TTN):c.51640+3G>A rs142095604
NM_133378.4(TTN):c.80003-4G>T rs201770959
NM_133378.4(TTN):c.93062-10T>C rs202214630
NM_133379.5(TTN):c.1398+8C>T rs72647848
NM_133379.5(TTN):c.1398+9G>A rs368350210
NM_133379.5(TTN):c.1537-4G>A rs56006378
NM_133379.5(TTN):c.1938+10G>C rs190935632
NM_133379.5(TTN):c.583+4C>T rs764670848
NM_144573.3(NEXN):c.1029G>A (p.Ala343=) rs374260457
NM_144573.3(NEXN):c.1065T>C (p.Asp355=) rs369897647
NM_144573.3(NEXN):c.1408G>C (p.Glu470Gln) rs35366555
NM_144573.3(NEXN):c.363G>A (p.Thr121=) rs35117963
NM_144573.3(NEXN):c.732C>A (p.Pro244=) rs201171783
NM_144573.3(NEXN):c.733G>A (p.Gly245Arg) rs1166698
NM_144573.3(NEXN):c.864+12T>A rs188416492
NM_144573.3(NEXN):c.893C>G (p.Thr298Arg) rs200753280
NM_144573.3(NEXN):c.949A>C (p.Met317Leu) rs559464457
NM_144573.3(NEXN):c.995A>C (p.Glu332Ala) rs201763096
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812
NM_170707.4(LMNA):c.294G>A (p.Glu98=) rs886045363
NM_170707.4(LMNA):c.514-11C>T rs886045365
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552
NM_170707.4(LMNA):c.811-13T>A rs80356809
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089
NM_170707.4(LMNA):c.936+12C>T rs199881992
NM_198056.2(SCN5A):c.100C>T (p.Arg34Cys) rs6791924
NM_198056.2(SCN5A):c.1044C>T (p.Pro348=) rs370346797
NM_198056.2(SCN5A):c.1068T>C (p.Asp356=) rs41313703
NM_198056.2(SCN5A):c.1141-3C>A rs41312433
NM_198056.2(SCN5A):c.1302C>T (p.Phe434=) rs41313699
NM_198056.2(SCN5A):c.1569T>A (p.Arg523=) rs41313693
NM_198056.2(SCN5A):c.1673A>G (p.His558Arg) rs1805124
NM_198056.2(SCN5A):c.1681C>T (p.Leu561=) rs45522138
NM_198056.2(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_198056.2(SCN5A):c.1743G>A (p.Ser581=) rs41313687
NM_198056.2(SCN5A):c.1800G>A (p.Val600=) rs758101066
NM_198056.2(SCN5A):c.2151G>A (p.Pro717=) rs191840835
NM_198056.2(SCN5A):c.2181C>T (p.Ile727=) rs186942072
NM_198056.2(SCN5A):c.21T>A (p.Pro7=) rs587781157
NM_198056.2(SCN5A):c.2259C>T (p.Asn753=) rs878911306
NM_198056.2(SCN5A):c.2436+12G>A rs41312419
NM_198056.2(SCN5A):c.2437-5C>A rs72549411
NM_198056.2(SCN5A):c.2788-6C>T rs41260344
NM_198056.2(SCN5A):c.2988C>T (p.Ala996=) rs781529391
NM_198056.2(SCN5A):c.3183A>G (p.Glu1061=) rs7430407
NM_198056.2(SCN5A):c.3228+6C>G rs368048551
NM_198056.2(SCN5A):c.3308C>A (p.Ser1103Tyr) rs7626962
NM_198056.2(SCN5A):c.3363G>A (p.Ala1121=) rs9858585
NM_198056.2(SCN5A):c.3391-7T>C rs41310769
NM_198056.2(SCN5A):c.3873G>A (p.Leu1291=) rs41313033
NM_198056.2(SCN5A):c.4437+13C>T rs148598985
NM_198056.2(SCN5A):c.4824C>T (p.Leu1608=) rs45437099
NM_198056.2(SCN5A):c.4848C>T (p.Phe1616=) rs41315495
NM_198056.2(SCN5A):c.5286C>T (p.Ile1762=) rs375323548
NM_198056.2(SCN5A):c.5454C>T (p.Ala1818=) rs370114378
NM_198056.2(SCN5A):c.5457T>C (p.Asp1819=) rs1805126
NM_198056.2(SCN5A):c.5607C>T (p.Asp1869=) rs560476223
NM_198056.2(SCN5A):c.6003C>T (p.Leu2001=) rs538707712
NM_198056.2(SCN5A):c.687T>C (p.Thr229=) rs770390440
Single allele rs142094404

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