ClinVar Miner

Variants with conflicting interpretations studied for Cardiovascular phenotype

Coded as:
Minimum review status of the submission for Cardiovascular phenotype: Y axis collection method of the submission for Cardiovascular phenotype:
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
2373 2460 7 2346 1509 10 306 3570

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
Cardiovascular phenotype pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor other
pathogenic 5 125 17 0 0 0 0 0
likely pathogenic 132 1 72 0 0 0 0 0
uncertain significance 82 129 1 563 114 0 1 0
likely benign 17 6 723 0 1050 1 3 1
benign 13 8 203 1040 0 0 4 1

Condition to condition summary #

Total conditions: 330
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 2404 0 1068 538 0 35 1582
not provided 0 1653 0 371 452 2 92 875
Hypertrophic cardiomyopathy 0 341 0 368 184 0 24 571
Dilated Cardiomyopathy, Dominant 0 131 0 337 203 0 1 541
Limb-Girdle Muscular Dystrophy, Recessive 0 70 0 209 122 0 0 331
Distal myopathy Markesbery-Griggs type 0 64 0 206 122 0 0 328
Hereditary myopathy with early respiratory failure 0 61 0 205 122 0 1 328
Myopathy, early-onset, with fatal cardiomyopathy 0 61 0 205 121 0 0 326
Long QT syndrome 0 263 0 199 113 1 15 304
Cardiomyopathy 0 704 1 181 101 0 10 291
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 0 515 0 142 95 0 5 242
Thoracic aortic aneurysm and aortic dissection 0 205 0 136 75 0 9 209
Arrhythmogenic right ventricular cardiomyopathy 0 55 0 99 72 0 3 171
Brugada syndrome 0 139 0 82 44 0 4 127
Catecholaminergic polymorphic ventricular tachycardia 0 86 0 75 39 0 0 106
Romano-Ward syndrome 0 33 0 52 37 0 1 90
Marfan syndrome 0 67 1 53 16 0 11 76
Primary familial hypertrophic cardiomyopathy 0 133 0 37 19 0 18 73
Congenital contractural arachnodactyly 0 49 0 53 16 0 1 68
Adams-Oliver syndrome 5 0 102 0 39 18 0 1 58
Ehlers-Danlos syndrome, type 7A 0 34 0 38 14 0 0 52
Primary dilated cardiomyopathy 0 82 0 24 19 0 9 52
Connective tissue disorder 0 90 0 27 23 0 1 51
Ehlers-Danlos syndrome, classic type 0 121 0 35 15 0 1 51
Left ventricular noncompaction cardiomyopathy 0 29 0 32 16 0 1 49
Aortic aneurysm, familial thoracic 4 0 72 0 23 17 0 1 40
Atrial septal defect 0 11 0 28 11 0 0 39
Duchenne muscular dystrophy 0 50 0 22 15 0 0 37
Marfan syndrome; Thoracic aortic aneurysm and aortic dissection 0 91 0 25 7 0 4 36
Progressive familial heart block 0 3 0 20 13 0 0 33
Familial hypertrophic cardiomyopathy 14 0 61 0 22 9 0 0 31
Ectodermal dysplasia skin fragility syndrome 0 28 0 17 13 0 0 30
Epidermolysis bullosa, lethal acantholytic 0 28 0 17 13 0 0 30
Skin fragility woolly hair syndrome 0 28 0 17 13 0 0 30
Dilated cardiomyopathy 3B 0 4 0 21 8 0 0 29
Periventricular nodular heterotopia 1; Melnick-Needles syndrome; Oto-palato-digital syndrome, type II; Frontometaphyseal dysplasia 0 46 0 23 6 0 0 29
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 0 62 0 18 9 0 1 28
Familial hypertrophic cardiomyopathy 1 0 21 0 18 3 0 7 28
Ehlers-Danlos syndrome, type 4 0 41 0 12 15 0 2 27
Arrhythmia 0 94 0 19 7 0 0 26
Dilated cardiomyopathy 1KK 0 30 0 14 10 0 3 25
Familial hypertrophic cardiomyopathy 4 0 39 0 15 3 0 7 24
Timothy syndrome 0 23 0 18 6 0 0 24
Myofibrillar myopathy, ZASP-related 0 20 0 16 6 0 1 23
Paroxysmal familial ventricular fibrillation 0 1 0 11 12 0 0 23
Sick sinus syndrome 0 1 0 11 12 0 0 23
Loeys-Dietz syndrome 0 22 0 14 7 0 2 22
Acromicric dysplasia 0 20 0 15 6 0 0 21
Ectopia lentis 0 20 0 15 6 0 0 21
Ehlers-Danlos syndrome, hydroxylysine-deficient 0 19 0 13 10 0 0 21
Geleophysic dysplasia 0 20 0 15 6 0 0 21
MASS syndrome 0 19 0 14 6 0 1 21
Stiff skin syndrome 0 20 0 14 6 0 0 20
Weill-Marchesani syndrome 0 20 0 14 6 0 0 20
Aortic aneurysm, familial thoracic 7 0 63 0 10 8 0 1 19
Arrhythmogenic right ventricular cardiomyopathy, type 9 0 45 0 10 6 0 1 17
Myopathy, distal, 1 0 22 0 10 7 0 0 17
Myosin storage myopathy 0 20 0 10 7 0 0 17
Scapuloperoneal myopathy 0 20 0 10 7 0 0 17
Arterial tortuosity syndrome 0 22 0 11 7 0 3 16
Arrhythmogenic right ventricular cardiomyopathy, type 10 0 32 0 6 7 0 2 15
Brugada syndrome 8 0 31 0 8 7 0 0 15
Dilated cardiomyopathy 1DD 0 33 0 11 6 0 0 15
Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 0 28 0 9 5 0 0 14
Holt-Oram syndrome 0 9 0 8 4 0 2 14
Myofibrillar Myopathy, Dominant 0 21 0 11 3 0 0 14
Charcot-Marie-Tooth disease, type 2 0 28 0 11 1 0 1 13
Dilated cardiomyopathy 1JJ 0 20 0 8 5 0 0 13
Familial atrial fibrillation 0 15 0 10 3 0 0 13
Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 0 9 0 6 3 0 3 12
Dilated cardiomyopathy 1W 0 23 0 8 3 0 1 12
Glycogen storage disease of heart, lethal congenital 0 13 0 8 6 0 0 12
Cardiac arrhythmia, ankyrin B-related 0 12 0 5 3 0 3 11
FG syndrome 0 17 0 7 3 0 1 11
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 0 0 0 7 4 0 0 11
Homocystinuria due to CBS deficiency 0 27 0 9 1 0 1 11
Jervell and Lange-Nielsen syndrome 0 15 0 9 2 0 0 11
Lissencephaly, Recessive 0 10 0 5 6 0 0 11
Long QT syndrome 1 0 19 0 5 0 0 6 11
Rasopathy 0 22 0 8 3 0 1 11
Shprintzen-Goldberg syndrome 0 29 0 6 5 0 0 11
Arrhythmogenic right ventricular cardiomyopathy, type 11 0 32 0 3 7 0 0 10
Brugada syndrome 4 0 15 0 5 5 0 0 10
Long QT syndrome 2 0 12 0 5 2 1 2 10
Naxos disease 0 1 0 7 3 0 0 10
Noonan syndrome 0 4 0 5 5 0 0 10
Arrhythmogenic right ventricular cardiomyopathy, type 5 0 21 0 3 5 0 1 9
Atrioventricular septal defect 4 0 7 0 7 3 0 1 9
Catecholaminergic polymorphic ventricular tachycardia type 1 0 5 1 1 5 0 2 9
Wolff-Parkinson-White syndrome 0 0 0 5 4 0 0 9
Danon disease 0 3 0 6 3 0 0 8
Fabry disease 0 4 0 3 4 1 2 8
Familial hypertrophic cardiomyopathy 10 0 6 0 6 1 0 2 8
Familial restrictive cardiomyopathy 0 2 0 8 0 0 0 8
Noonan syndrome with multiple lentigines 0 0 0 4 4 0 0 8
Progressive familial heart block type 1B 0 16 0 7 1 0 1 8
short QT syndrome 0 14 0 7 1 0 0 8
Arteriohepatic dysplasia 0 11 0 6 1 0 0 7
Death in infancy 0 0 0 1 0 0 6 7
Dilated Cardiomyopathy, Recessive 0 2 0 4 3 0 0 7
Ectopia lentis, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2; Acromicric dysplasia; Geleophysic dysplasia 2; Marfan lipodystrophy syndrome 0 12 0 2 5 0 0 7
Hypertrichotic osteochondrodysplasia 0 0 0 4 3 0 0 7
Loeys-Dietz syndrome 4 0 17 0 3 4 0 1 7
Long QT syndrome 3 0 10 0 3 0 0 4 7
Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 0 30 0 6 1 0 0 7
Amyloidogenic transthyretin amyloidosis 0 5 0 3 2 0 2 6
Aortic aneurysm, familial thoracic 8 0 14 0 5 1 0 0 6
Arrhythmogenic right ventricular dysplasia/cardiomyopathy 0 5 0 1 3 0 2 6
Atrial septal defect 7 with or without atrioventricular conduction defects 0 9 0 5 1 0 0 6
Cardiac arrhythmia 0 17 0 3 1 0 2 6
Dilated cardiomyopathy 1O 0 11 0 4 2 0 0 6
Familial hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M 0 6 0 4 0 0 2 6
Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 0 13 0 3 0 0 3 6
Fukuyama congenital muscular dystrophy 0 2 0 2 4 0 0 6
Isolated Nonsyndromic Congenital Heart Disease 0 10 0 5 1 0 0 6
Juvenile polyposis syndrome 0 9 0 3 3 0 0 6
Limb-Girdle Muscular Dystrophy, Dominant 0 0 0 5 1 0 0 6
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections 0 11 0 6 0 0 0 6
Myofibrillar myopathy, BAG3-related; Dilated cardiomyopathy 1HH 0 20 0 6 0 0 0 6
Wolff-Parkinson-White pattern 0 3 0 1 2 0 3 6
Brugada syndrome 1 0 6 0 2 2 0 1 5
Cardiac arrest 0 5 0 3 2 0 0 5
Cardiovascular phenotype 8370 28 0 1 0 0 4 5
Caveolinopathy 0 0 0 4 1 0 0 5
Familial aortopathy 0 2 0 2 0 0 3 5
Familial hypertrophic cardiomyopathy 17 0 11 0 3 2 0 0 5
Familial hypertrophic cardiomyopathy 2 0 2 0 4 0 0 1 5
Homocystinuria 0 6 0 1 4 0 0 5
Myofibrillar myopathy 1 0 8 0 4 0 0 1 5
Paroxysmal familial ventricular fibrillation 1 0 1 0 3 1 0 1 5
ANKRD1-related dilated cardiomyopathy 0 9 0 4 0 0 0 4
Alagille syndrome 1 0 6 0 3 1 0 0 4
Aortic aneurysm, familial thoracic 6 0 11 0 2 0 0 2 4
Aortic valve disorder 0 4 0 3 1 0 0 4
Brugada syndrome 2 0 0 0 1 0 0 3 4
Brugada syndrome 7 0 2 0 2 1 0 1 4
Cardiac conduction defect, nonspecific 0 1 0 3 0 0 1 4
DiGeorge sequence 0 1 0 3 0 0 1 4
Dilated cardiomyopathy 0 5 0 0 0 0 4 4
Dilated cardiomyopathy 1A 0 8 1 1 1 0 1 4
Dilated cardiomyopathy 1S 0 6 0 1 0 0 3 4
Familial hypertrophic cardiomyopathy 19 0 5 0 3 1 0 0 4
Left ventricular noncompaction 10 0 3 0 0 3 0 2 4
Limb-girdle muscular dystrophy, type 2J 0 2 0 0 1 0 3 4
Loeys-Dietz syndrome 2 0 17 0 2 2 0 0 4
Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 0 15 0 3 1 0 0 4
Scapuloperoneal weakness 0 8 0 4 0 0 0 4
Sudden cardiac death 0 1 0 1 2 0 1 4
Arrhythmogenic right ventricular cardiomyopathy, type 8 0 4 0 0 3 0 0 3
Becker muscular dystrophy 0 1 0 1 2 0 0 3
Brugada syndrome 6 0 0 0 1 0 0 2 3
Caudal dysgenesis syndrome 0 0 0 3 0 0 0 3
Dilated cardiomyopathy 1AA 0 9 0 2 0 0 1 3
Dilated cardiomyopathy 1J 0 2 0 1 2 0 0 3
Dilated cardiomyopathy 1Z; Familial hypertrophic cardiomyopathy 13 0 1 0 3 0 0 0 3
Familial hypertrophic cardiomyopathy 8 0 3 0 1 0 0 2 3
Generalized epilepsy with febrile seizures plus 0 1 0 3 0 0 0 3
Hereditary cancer-predisposing syndrome 0 12 0 2 1 0 0 3
Loeys-Dietz syndrome 1 0 8 0 2 1 0 0 3
Loeys-Dietz syndrome 3 0 0 0 1 0 0 2 3
Long QT syndrome 5 0 1 0 2 0 1 0 3
Metachondromatosis 0 0 0 1 2 0 0 3
Neural tube defect 0 0 0 3 0 0 0 3
Noonan syndrome 1 0 3 1 1 1 0 0 3
Tetralogy of Fallot 0 1 0 0 2 0 1 3
3-Methylglutaconic aciduria type 2 0 0 0 2 0 0 0 2
Andersen Tawil syndrome; Short QT syndrome 3 0 6 0 1 0 0 1 2
Aortic valve disease 2 0 4 0 1 1 0 0 2
Brugada syndrome 1; Long QT syndrome 3 0 2 0 1 1 0 0 2
Brugada syndrome 5 0 5 0 2 0 0 0 2
Brugada syndrome 9 0 1 0 0 0 0 2 2
Cardiomyopathy, dilated, 2b 0 2 0 2 0 0 0 2
Ciliary dyskinesia 0 0 0 2 0 0 0 2
Death in early adulthood 0 0 0 0 0 0 2 2
Delta-sarcoglycanopathy 0 2 0 2 0 0 0 2
Dilated cardiomyopathy 1C 0 1 0 0 1 0 1 2
Dilated cardiomyopathy 1E 0 1 0 0 0 0 2 2
Dilated cardiomyopathy 1EE 0 1 0 0 1 0 1 2
Dilated cardiomyopathy 1G 0 4 0 1 0 0 1 2
Dilated cardiomyopathy 1M 0 0 0 0 1 0 1 2
Dilated cardiomyopathy 1T 0 1 0 0 2 0 0 2
Dilated cardiomyopathy 2A; Familial restrictive cardiomyopathy 1; Dilated cardiomyopathy 1FF; Familial hypertrophic cardiomyopathy 7 0 0 0 2 0 0 0 2
Emery-Dreifuss muscular dystrophy 0 7 0 2 0 0 0 2
Familial dilated cardiomyopathy 0 12 0 0 2 0 0 2
Familial hypertrophic cardiomyopathy 12 0 0 0 0 1 0 1 2
Familial hypertrophic cardiomyopathy 13 0 0 0 0 0 0 2 2
Familial hypertrophic cardiomyopathy 15 0 0 0 0 0 0 2 2
Familial hypertrophic cardiomyopathy 16 0 5 0 1 1 0 0 2
Familial hypertrophic cardiomyopathy 22 0 0 0 0 0 0 2 2
Familial hypertrophic cardiomyopathy 3 0 1 0 1 0 0 1 2
Familial hypertrophic cardiomyopathy 7 0 1 0 1 0 1 0 2
Familial thoracic aortic aneurysm; Acute aortic dissection 0 3 0 1 1 0 0 2
Hypothyroidism, congenital, nongoitrous, 5 0 0 0 0 0 0 2 2
Jervell and Lange-Nielsen syndrome 1 0 4 0 2 0 0 0 2
LEOPARD syndrome 1 0 0 2 0 0 0 0 2
Left ventricular noncompaction 0 4 0 0 1 0 1 2
Left ventricular noncompaction 6 0 3 0 1 0 0 1 2
Long QT syndrome 12 0 2 0 0 1 0 1 2
Long QT syndrome 2/9, digenic 0 0 0 0 0 0 2 2
Long QT syndrome 4 0 0 0 0 0 0 2 2
Long QT syndrome 6 0 4 0 1 1 0 1 2
Long qt syndrome 3, acquired, susceptibility to 0 0 0 0 0 2 0 2
Moyamoya disease 0 0 0 1 1 0 0 2
Multisystemic smooth muscle dysfunction syndrome 0 1 0 1 1 0 0 2
Myofibrillar myopathy 0 0 0 0 1 0 1 2
Nonsyndromic Hearing Loss, Dominant 0 1 0 1 1 0 0 2
Periventricular nodular heterotopia 1 0 0 0 1 1 0 0 2
Short QT syndrome 1; Long QT syndrome 2 0 2 0 1 1 0 0 2
Sudden unexplained death 0 0 0 2 0 0 0 2
Ventricular fibrillation 0 2 0 0 2 0 0 2
Ventricular septal defect 1 0 0 0 0 1 0 1 2
Ventricular tachycardia, catecholaminergic polymorphic, 2 0 7 0 1 1 0 0 2
Ventricular tachycardia, catecholaminergic polymorphic, 4; Long QT syndrome 14 0 2 0 1 1 0 0 2
Walker-Warburg congenital muscular dystrophy 0 12 0 2 0 0 0 2
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF 0 0 0 0 0 1 0 1
Abnormality of cardiovascular system morphology 0 0 0 0 0 0 1 1
Abnormality of neuronal migration 0 0 0 1 0 0 0 1
Alpha-B crystallinopathy 0 5 0 0 1 0 0 1
Andersen Tawil syndrome 0 5 0 1 0 0 0 1
Anophthalmia - microphthalmia 0 0 0 0 1 0 0 1
Aortic aneurysm 0 1 0 0 1 0 0 1
Aortic aneurysm, familial thoracic 2 0 3 0 0 1 0 0 1
Aortic dilatation 0 1 0 0 1 0 0 1
Arrhythmogenic right ventricular cardiomyopathy, type 12 0 1 0 1 0 0 0 1
Arrhythmogenic right ventricular cardiomyopathy; Brugada syndrome; Sudden unexplained death 0 0 0 0 0 0 1 1
Arrhythmogenic right ventricular dysplasia, familial 1 0 0 0 1 0 0 0 1
Arterial dissection 0 0 0 0 1 0 0 1
Atrial fibrillation 0 3 0 0 0 0 1 1
Atrial fibrillation, familial, 13 0 0 0 0 0 0 1 1
Atrial fibrillation, familial, 16 0 0 0 0 0 0 1 1
Atrial fibrillation, familial, 3 0 0 0 0 0 0 1 1
Atrial fibrillation; Brugada syndrome 0 0 0 1 0 0 0 1
Atrial septal defect 2 0 0 0 0 1 0 0 1
Atrial septal defect 3 0 0 0 0 1 0 0 1
Atrial septal defect 4 0 2 0 1 0 0 0 1
Autism spectrum disorder 0 0 0 0 0 0 1 1
Brain Aneurysm 0 0 0 0 1 0 0 1
Brugada syndrome 3 0 1 0 0 0 0 1 1
Brugada syndrome, lidocaine-induced 0 1 0 1 0 0 0 1
Camptocormia 0 0 0 0 0 0 1 1
Cardiomyopathy, arrhythmogenic right ventricular dysplasia 0 1 0 0 1 0 0 1
Cardiomyopathy, restrictive 0 0 0 0 0 0 1 1
Charcot-Marie-Tooth disease 0 0 0 0 0 0 1 1
Congenital aneurysm of ascending aorta 0 0 0 1 0 0 0 1
Congenital cataract 0 0 0 0 1 0 0 1
Congenital contractural arachnodactyly; Macular degeneration, early-onset 0 4 0 0 1 0 0 1
Congenital diaphragmatic hernia 0 0 0 0 1 0 0 1
Congenital heart disease 0 1 0 1 0 0 0 1
Congenital muscular dystrophy 0 0 0 0 1 0 0 1
Congenital muscular dystrophy, LMNA-related 0 7 0 1 0 0 0 1
Costello syndrome 0 0 0 0 0 0 1 1
Deoxygalactonojirimycin response 0 0 0 0 0 1 0 1
Dilatation of ascending aorta; Scoliosis; Tall stature; Joint hypermobility; Severe Myopia; Aortic aneurysm 0 0 0 1 0 0 0 1
Dilated cardiomyopathy 1BB 0 1 0 0 0 1 0 1
Dilated cardiomyopathy 1CC 0 1 0 1 0 0 0 1
Dilated cardiomyopathy 1HH 0 1 0 0 0 0 1 1
Dilated cardiomyopathy 1II 0 4 0 0 0 0 1 1
Dilated cardiomyopathy 1N; Primary familial hypertrophic cardiomyopathy 0 9 0 0 1 0 0 1
Dilated cardiomyopathy with left ventricular noncompaction 0 1 0 0 1 0 0 1
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome; Dilated cardiomyopathy 1A; Charcot-Marie-Tooth disease type 2B1; Benign scapuloperoneal muscular dystrophy with cardiomyopathy; Heart-hand syndrome, Slovenian type; Hutchinson-Gilford syndrome; Familial partial lipodystrophy 2; Mandibuloacral dysostosis; Limb-girdle muscular dystrophy, type 1B; Lethal tight skin contracture syndrome; Congenital muscular dystrophy, LMNA-related; Emery-Dreifuss muscular dystrophy 3, autosomal recessive 0 0 0 1 0 0 0 1
Early repolarization associated with ventricular fibrillation 0 0 0 0 1 0 0 1
Ehlers-Danlos syndrome 0 0 0 1 0 0 0 1
Elevated serum creatine phosphokinase; Familial hypertrophic cardiomyopathy 1; Long QT syndrome 9; Limb-girdle muscular dystrophy, type 1C; Rippling muscle disease; Distal myopathy, Tateyama type 0 0 0 0 1 0 0 1
Emery-Dreifuss muscular dystrophy 1, X-linked 0 4 0 1 0 0 0 1
Emery-Dreifuss muscular dystrophy 7, autosomal dominant 0 0 0 0 0 0 1 1
Endocardial fibroelastosis 0 1 0 1 0 0 0 1
FG syndrome 2 0 0 0 0 0 0 1 1
Familial colorectal cancer 0 0 0 0 0 0 1 1
Familial hyperaldosteronism 0 4 0 1 0 0 0 1
Familial hypertrophic cardiomyopathy 14; Sudden cardiac death 0 0 0 0 0 0 1 1
Familial hypertrophic cardiomyopathy 1; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; Myopathy, distal, 1; Scapuloperoneal myopathy, MYH7-related 0 10 0 0 1 0 0 1
Familial hypertrophic cardiomyopathy 24 0 0 0 0 0 0 1 1
Familial hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 0 9 0 1 0 0 0 1
Familial partial lipodystrophy 0 7 0 1 0 0 0 1
Familial partial lipodystrophy 2 0 0 0 0 0 0 1 1
GLUCOCORTICOID DEFICIENCY 5 0 0 0 0 0 0 1 1
Generalized epilepsy with febrile seizures plus, type 1 0 0 0 0 0 0 1 1
Heart-hand syndrome, Slovenian type 0 0 0 1 0 0 0 1
Hereditary nonpolyposis colorectal cancer type 6 0 0 0 0 0 0 1 1
Hirschsprung disease 1 0 0 0 0 1 0 0 1
Hutchinson-Gilford syndrome 0 7 0 1 0 0 0 1
Hypoplastic left heart syndrome 2 0 0 0 0 0 0 1 1
Insulin resistance syndrome, type A 0 0 0 0 1 0 0 1
Intellectual functioning disability 0 0 0 0 1 0 0 1
Interrupted aortic arch 0 0 0 0 0 0 1 1
Juvenile Polyposis 0 3 0 0 1 0 0 1
Left ventricular hypertrophy 0 2 0 0 0 0 1 1
Lethal tight skin contracture syndrome 0 7 0 1 0 0 0 1
Limb-girdle muscular dystrophy 0 3 0 0 0 0 1 1
Limb-girdle muscular dystrophy, type 1C 0 0 0 0 1 0 0 1
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules 0 7 0 1 0 0 0 1
Long QT syndrome 1, recessive 0 1 0 1 0 0 0 1
Long QT syndrome 11 0 24 0 0 1 0 0 1
Long QT syndrome 2/3, digenic 0 0 0 0 0 0 1 1
Long QT syndrome 2/5 0 0 0 0 0 0 1 1
Long QT syndrome 5, acquired, susceptibility to 0 0 0 0 0 1 0 1
Long QT syndrome 6, acquired, susceptibility to 0 0 0 0 0 1 0 1
Long QT syndrome 9 0 0 0 0 1 0 1 1
Long QT syndrome, drug-associated 0 2 0 0 1 0 0 1
Long QT syndrome; Brugada syndrome 0 0 0 1 0 0 0 1
MYH7-Related Disorders 0 1 0 0 0 0 1 1
MYL2-Related Disorders 0 0 0 0 0 0 1 1
Macular degeneration, early-onset 0 0 0 0 0 0 1 1
Mandibuloacral dysplasia 0 7 0 1 0 0 0 1
Mandibuloacral dysplasia with type A lipodystrophy, atypical 0 0 0 0 0 0 1 1
Marfanoid habitus 0 0 0 0 1 0 0 1
Moyamoya disease 5 0 1 0 1 0 0 0 1
Muscular dystrophy 0 0 0 1 0 0 0 1
Myhre syndrome 0 3 0 0 1 0 0 1
Obesity; Prolonged QT interval 0 0 0 1 0 0 0 1
Osler hemorrhagic telangiectasia syndrome 0 3 0 0 1 0 0 1
PRKAG2 cardiac syndrome 0 0 0 1 0 0 0 1
Partial lipodystrophy, Dunnigan 0 0 0 0 1 0 0 1
Periodic paralysis 0 0 0 1 0 0 0 1
Posterior polar cataract 0 5 0 0 1 0 0 1
Primary dilated cardiomyopathy; Hypertrophic cardiomyopathy 0 8 0 1 0 0 0 1
Primary dilated cardiomyopathy; Migraine; Hemiplegia 0 0 0 0 1 0 0 1
Pulmonary valve stenosis (rare); Ventricular tachycardia 0 0 0 1 0 0 0 1
Right ventricular cardiomyopathy 0 0 0 0 0 0 1 1
Rippling muscle disease 2 0 0 0 0 0 0 1 1
Rippling muscle disease 2, autosomal recessive 0 0 0 0 0 0 1 1
SUDDEN INFANT DEATH SYNDROME 0 5 0 0 0 0 1 1
Severe combined immunodeficiency disease; Immunodeficiency; Lymphopenia; Abnormality of cellular immune system; Abnormality of T cell physiology; Combined immunodeficiency 0 0 0 1 0 0 0 1
Sick sinus syndrome 1, autosomal recessive 0 1 0 0 0 0 1 1
Single ventricle; small Atrial septal defect 0 0 0 0 1 0 0 1
Syncope; Ventricular fibrillation 0 0 0 0 1 0 0 1
Total anomalous pulmonary venous return 0 2 0 1 1 0 0 1
Truncus arteriosus 0 0 0 0 0 0 1 1
Ventricular fibrillation, idiopathic 0 0 0 0 1 0 0 1
X-linked mental retardation with marfanoid habitus syndrome; FG syndrome; Ohdo syndrome, X-linked 0 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 3570
Download table as spreadsheet
HGVS dbSNP
NM_000071.2(CBS):c.1058C>T (p.Thr353Met) rs121964972
NM_000071.2(CBS):c.1059G>A (p.Thr353=) rs61735859
NM_000071.2(CBS):c.1105C>T (p.Arg369Cys) rs117687681
NM_000071.2(CBS):c.1161C>T (p.Ser387=) rs149280976
NM_000071.2(CBS):c.146C>T (p.Pro49Leu) rs148865119
NM_000071.2(CBS):c.1479G>A (p.Thr493=) rs143225442
NM_000071.2(CBS):c.1539C>T (p.His513=) rs187828882
NM_000071.2(CBS):c.1632C>T (p.Ala544=) rs566810122
NM_000071.2(CBS):c.1643G>A (p.Arg548Gln) rs150828989
NM_000071.2(CBS):c.215A>T (p.Lys72Ile) rs192232907
NM_000071.2(CBS):c.304A>C (p.Lys102Gln) rs34040148
NM_000071.2(CBS):c.325T>C (p.Cys109Arg) rs778220779
NM_000071.2(CBS):c.502G>A (p.Val168Met) rs121964970
NM_000071.2(CBS):c.52C>T (p.Arg18Cys) rs201827340
NM_000071.2(CBS):c.573G>A (p.Thr191=) rs73906420
NM_000071.2(CBS):c.636C>T (p.Asn212=) rs2298758
NM_000071.2(CBS):c.675C>T (p.Asn225=) rs145303290
NM_000071.2(CBS):c.786G>A (p.Thr262=) rs551782391
NM_000071.2(CBS):c.797G>A (p.Arg266Lys) rs121964969
NM_000071.2(CBS):c.840G>A (p.Val280=) rs1060500682
NM_000071.2(CBS):c.894G>A (p.Gln298=) rs370514077
NM_000071.2(CBS):c.939G>A (p.Thr313=) rs2228298
NM_000090.3(COL3A1):c.114C>G (p.Ser38=) rs141241764
NM_000090.3(COL3A1):c.1188C>T (p.Gly396=) rs745743884
NM_000090.3(COL3A1):c.130G>A (p.Val44Ile) rs79632685
NM_000090.3(COL3A1):c.1348-4delT rs758567906
NM_000090.3(COL3A1):c.1424C>T (p.Ala475Val) rs770168441
NM_000090.3(COL3A1):c.1476A>C (p.Gly492=) rs111683983
NM_000090.3(COL3A1):c.1761+5G>A (p.Gly555_Asp587del) rs397509372
NM_000090.3(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890
NM_000090.3(COL3A1):c.1815+5G>A rs146652498
NM_000090.3(COL3A1):c.1864C>T (p.Pro622Ser) rs772638774
NM_000090.3(COL3A1):c.1927T>C (p.Leu643=) rs41263757
NM_000090.3(COL3A1):c.198A>G (p.Ile66Met) rs372269408
NM_000090.3(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.3(COL3A1):c.2002C>T (p.Pro668Ser) rs1801183
NM_000090.3(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773
NM_000090.3(COL3A1):c.2056C>G (p.Pro686Ala) rs41263775
NM_000090.3(COL3A1):c.217G>C (p.Asp73His) rs200246388
NM_000090.3(COL3A1):c.2355C>G (p.Pro785=) rs148901664
NM_000090.3(COL3A1):c.2445T>G (p.Pro815=) rs199727625
NM_000090.3(COL3A1):c.2489C>T (p.Pro830Leu) rs886038849
NM_000090.3(COL3A1):c.2607T>A (p.Pro869=) rs376643618
NM_000090.3(COL3A1):c.2805T>C (p.Pro935=) rs111567071
NM_000090.3(COL3A1):c.2959G>A (p.Gly987Ser) rs587779583
NM_000090.3(COL3A1):c.3019G>A (p.Ala1007Thr) rs201220788
NM_000090.3(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440
NM_000090.3(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000090.3(COL3A1):c.3228C>T (p.Pro1076=) rs200917999
NM_000090.3(COL3A1):c.3642C>A (p.Gly1214=) rs184402915
NM_000090.3(COL3A1):c.3775G>A (p.Ala1259Thr) rs776478974
NM_000090.3(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000090.3(COL3A1):c.4086C>T (p.Ser1362=) rs779774302
NM_000090.3(COL3A1):c.505C>T (p.Leu169Phe) rs111391222
NM_000090.3(COL3A1):c.515A>C (p.Tyr172Ser) rs771654029
NM_000090.3(COL3A1):c.674G>C (p.Gly225Ala) rs587779533
NM_000090.3(COL3A1):c.706C>T (p.Pro236Ser) rs771858477
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000090.3(COL3A1):c.873C>T (p.Gly291=) rs138569287
NM_000090.3(COL3A1):c.898-5T>C rs535434618
NM_000090.3(COL3A1):c.970G>A (p.Gly324Ser) rs587779650
NM_000093.4(COL5A1):c.1062C>T (p.Asp354=) rs61737708
NM_000093.4(COL5A1):c.1077G>A (p.Glu359=) rs201166370
NM_000093.4(COL5A1):c.1143C>T (p.Ala381=) rs200245996
NM_000093.4(COL5A1):c.1158C>T (p.Ser386=) rs61729497
NM_000093.4(COL5A1):c.126C>T (p.Leu42=) rs149369116
NM_000093.4(COL5A1):c.1281G>A (p.Pro427=) rs147292897
NM_000093.4(COL5A1):c.12T>C (p.His4=) rs368818087
NM_000093.4(COL5A1):c.1350C>T (p.Gly450=) rs576332528
NM_000093.4(COL5A1):c.1383C>T (p.Ile461=) rs61736827
NM_000093.4(COL5A1):c.1539C>T (p.Pro513=) rs151173863
NM_000093.4(COL5A1):c.1566G>A (p.Leu522=) rs61737941
NM_000093.4(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_000093.4(COL5A1):c.1752G>A (p.Glu584=) rs376865199
NM_000093.4(COL5A1):c.193C>T (p.Arg65Trp) rs139468527
NM_000093.4(COL5A1):c.194G>A (p.Arg65Gln) rs116003670
NM_000093.4(COL5A1):c.1953C>T (p.Ser651=) rs78215347
NM_000093.4(COL5A1):c.2031G>A (p.Glu677=) rs61737719
NM_000093.4(COL5A1):c.2058G>A (p.Pro686=) rs143443499
NM_000093.4(COL5A1):c.2088C>T (p.Pro696=) rs146757272
NM_000093.4(COL5A1):c.2096C>T (p.Thr699Met) rs142313124
NM_000093.4(COL5A1):c.2182G>A (p.Ala728Thr) rs575535171
NM_000093.4(COL5A1):c.2268C>T (p.Pro756=) rs367755808
NM_000093.4(COL5A1):c.2310T>A (p.Pro770=) rs377123592
NM_000093.4(COL5A1):c.240C>T (p.Asp80=) rs79724538
NM_000093.4(COL5A1):c.2493C>T (p.Ile831=) rs199630108
NM_000093.4(COL5A1):c.252C>T (p.Ser84=) rs151293601
NM_000093.4(COL5A1):c.2564C>G (p.Pro855Arg) rs150539264
NM_000093.4(COL5A1):c.2588A>T (p.Glu863Val) rs139788610
NM_000093.4(COL5A1):c.2695G>A (p.Gly899Ser) rs149964491
NM_000093.4(COL5A1):c.2724G>A (p.Pro908=) rs41310207
NM_000093.4(COL5A1):c.2751G>A (p.Pro917=) rs200319017
NM_000093.4(COL5A1):c.2799+4T>C rs75815945
NM_000093.4(COL5A1):c.279G>A (p.Ala93=) rs145090868
NM_000093.4(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966
NM_000093.4(COL5A1):c.2892C>T (p.Gly964=) rs78511105
NM_000093.4(COL5A1):c.2991C>T (p.Gly997=) rs766208976
NM_000093.4(COL5A1):c.3204+3G>A rs202054108
NM_000093.4(COL5A1):c.3231A>G (p.Glu1077=) rs376248130
NM_000093.4(COL5A1):c.3291C>T (p.Ala1097=) rs371821655
NM_000093.4(COL5A1):c.3303C>T (p.Ile1101=) rs760754491
NM_000093.4(COL5A1):c.3418G>A (p.Val1140Met) rs149616140
NM_000093.4(COL5A1):c.341C>A (p.Ala114Asp) rs147589613
NM_000093.4(COL5A1):c.3591C>T (p.Asp1197=) rs370349155
NM_000093.4(COL5A1):c.378G>T (p.Gln126His) rs145178917
NM_000093.4(COL5A1):c.37C>T (p.Leu13Phe) rs762625123
NM_000093.4(COL5A1):c.3855C>T (p.Gly1285=) rs139544503
NM_000093.4(COL5A1):c.3888G>A (p.Pro1296=) rs375631252
NM_000093.4(COL5A1):c.3897C>T (p.Gly1299=) rs745918663
NM_000093.4(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509
NM_000093.4(COL5A1):c.4065C>T (p.Pro1355=) rs61737906
NM_000093.4(COL5A1):c.4066G>A (p.Ala1356Thr) rs147868179
NM_000093.4(COL5A1):c.4122G>A (p.Thr1374=) rs3827848
NM_000093.4(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195
NM_000093.4(COL5A1):c.4230+5C>T rs142248898
NM_000093.4(COL5A1):c.4383C>T (p.Pro1461=) rs368551709
NM_000093.4(COL5A1):c.4410C>T (p.Pro1470=) rs41310953
NM_000093.4(COL5A1):c.4482G>A (p.Pro1494=) rs2228560
NM_000093.4(COL5A1):c.4560C>T (p.Ile1520=) rs2228559
NM_000093.4(COL5A1):c.4658C>T (p.Pro1553Leu) rs530570306
NM_000093.4(COL5A1):c.4683A>C (p.Gly1561=) rs149959668
NM_000093.4(COL5A1):c.4814C>T (p.Ala1605Val) rs145175057
NM_000093.4(COL5A1):c.4906G>A (p.Ala1636Thr) rs113452150
NM_000093.4(COL5A1):c.4968C>T (p.Val1656=) rs201871481
NM_000093.4(COL5A1):c.5034G>A (p.Ser1678=) rs148006741
NM_000093.4(COL5A1):c.514G>A (p.Val172Ile) rs150147262
NM_000093.4(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_000093.4(COL5A1):c.5151C>T (p.Asp1717=) rs61729558
NM_000093.4(COL5A1):c.5154C>T (p.Ala1718=) rs147434147
NM_000093.4(COL5A1):c.5190C>T (p.Phe1730=) rs61729481
NM_000093.4(COL5A1):c.5270C>T (p.Thr1757Met) rs2229817
NM_000093.4(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000093.4(COL5A1):c.5439G>T (p.Val1813=) rs886063678
NM_000093.4(COL5A1):c.5469G>C (p.Ala1823=) rs367657505
NM_000093.4(COL5A1):c.573C>T (p.Leu191=) rs116715381
NM_000093.4(COL5A1):c.574G>A (p.Asp192Asn) rs138579182
NM_000093.4(COL5A1):c.597C>G (p.Ile199Met) rs147008954
NM_000093.4(COL5A1):c.598G>A (p.Asp200Asn) rs142890619
NM_000093.4(COL5A1):c.61C>T (p.Pro21Ser) rs548525119
NM_000093.4(COL5A1):c.761C>T (p.Ser254Leu) rs144844792
NM_000093.4(COL5A1):c.804C>T (p.Gly268=) rs147729713
NM_000093.4(COL5A1):c.82_84dupCTG (p.Leu28_Trp29insLeu) rs773994971
NM_000093.4(COL5A1):c.934C>G (p.Pro312Ala) rs140105243
NM_000093.4(COL5A1):c.996C>T (p.Asp332=) rs144763302
NM_000109.3(DMD):c.7547G>A (p.Arg2516His) rs151244052
NM_000109.3(DMD):c.9658T>C (p.Phe3220Leu) rs141392048
NM_000116.4(TAZ):c.383T>C (p.Phe128Ser) rs146934311
NM_000116.4(TAZ):c.873G>A (p.Gly291=) rs35902788
NM_000117.2(EMD):c.144C>T (p.Leu48=) rs200537612
NM_000117.2(EMD):c.396C>T (p.His132=) rs145985318
NM_000138.4(FBN1):c.1027G>A (p.Gly343Arg) rs146726731
NM_000138.4(FBN1):c.1029G>A (p.Gly343=) rs75655780
NM_000138.4(FBN1):c.1158C>G (p.Asn386Lys) rs368737502
NM_000138.4(FBN1):c.1285C>T (p.Arg429Ter) rs112645512
NM_000138.4(FBN1):c.1323A>G (p.Pro441=) rs202030761
NM_000138.4(FBN1):c.1371C>G (p.Arg457=) rs25436
NM_000138.4(FBN1):c.1468+5G>A rs397515757
NM_000138.4(FBN1):c.1530G>T (p.Ser510=) rs147511977
NM_000138.4(FBN1):c.1571delC (p.Thr524Serfs) rs886038817
NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.4(FBN1):c.1746C>T (p.Cys582=) rs112366266
NM_000138.4(FBN1):c.1846G>A (p.Glu616Lys) rs397515764
NM_000138.4(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.4(FBN1):c.185G>A (p.Arg62His) rs145942328
NM_000138.4(FBN1):c.1A>C (p.Met1Leu) rs730880097
NM_000138.4(FBN1):c.2093C>T (p.Pro698Leu) rs764827921
NM_000138.4(FBN1):c.2094G>T (p.Pro698=) rs144775475
NM_000138.4(FBN1):c.2148A>G (p.Gly716=) rs141039922
NM_000138.4(FBN1):c.2175T>C (p.Asn725=) rs140606
NM_000138.4(FBN1):c.2287T>C (p.Cys763Arg) rs1555399361
NM_000138.4(FBN1):c.2624G>A (p.Cys875Tyr) rs886039038
NM_000138.4(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.4(FBN1):c.266G>A (p.Cys89Tyr) rs112660651
NM_000138.4(FBN1):c.2678-3C>G rs747274959
NM_000138.4(FBN1):c.2861G>A (p.Arg954His) rs112911555
NM_000138.4(FBN1):c.287G>C (p.Arg96Thr) rs794728291
NM_000138.4(FBN1):c.2895G>A (p.Glu965=) rs140591
NM_000138.4(FBN1):c.2920C>T (p.Arg974Cys) rs397514558
NM_000138.4(FBN1):c.2934C>G (p.Asp978Glu) rs138438849
NM_000138.4(FBN1):c.2953G>A (p.Gly985Arg) rs794728199
NM_000138.4(FBN1):c.2956G>A (p.Ala986Thr) rs112287730
NM_000138.4(FBN1):c.3058A>G (p.Thr1020Ala) rs111801777
NM_000138.4(FBN1):c.3069G>A (p.Lys1023=) rs199789628
NM_000138.4(FBN1):c.306C>T (p.Cys102=) rs25388
NM_000138.4(FBN1):c.3089A>G (p.Asn1030Ser) rs375996640
NM_000138.4(FBN1):c.3217G>A (p.Glu1073Lys) rs137854478
NM_000138.4(FBN1):c.3294C>T (p.Asp1098=) rs140587
NM_000138.4(FBN1):c.3344A>G (p.Asp1115Gly) rs794728203
NM_000138.4(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241
NM_000138.4(FBN1):c.3423G>A (p.Pro1141=) rs140396599
NM_000138.4(FBN1):c.3457T>C (p.Cys1153Arg) rs886038877
NM_000138.4(FBN1):c.3463+3A>G rs80344206
NM_000138.4(FBN1):c.347-2A>G rs1555405056
NM_000138.4(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.4(FBN1):c.3623G>T (p.Cys1208Phe) rs1555398406
NM_000138.4(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.4(FBN1):c.3675G>A (p.Pro1225=) rs148147223
NM_000138.4(FBN1):c.3797A>T (p.Tyr1266Phe) rs200283837
NM_000138.4(FBN1):c.3890A>G (p.Glu1297Gly) rs200342067
NM_000138.4(FBN1):c.4043G>A (p.Cys1348Tyr) rs1555397720
NM_000138.4(FBN1):c.4082G>A (p.Cys1361Tyr) rs1555397704
NM_000138.4(FBN1):c.4095C>T (p.Asp1365=) rs375402043
NM_000138.4(FBN1):c.4243T>C (p.Cys1415Arg) rs1555397557
NM_000138.4(FBN1):c.4306G>A (p.Val1436Met) rs377338217
NM_000138.4(FBN1):c.4331G>A (p.Cys1444Tyr) rs886038940
NM_000138.4(FBN1):c.4337-2A>G rs794728216
NM_000138.4(FBN1):c.433T>C (p.Cys145Arg) rs1555405031
NM_000138.4(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054
NM_000138.4(FBN1):c.4443C>T (p.Ser1481=) rs145040593
NM_000138.4(FBN1):c.4562delC (p.Pro1521Glnfs) rs886039035
NM_000138.4(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.4(FBN1):c.4683C>T (p.Ser1561=) rs148024160
NM_000138.4(FBN1):c.4750G>A (p.Glu1584Lys) rs148888513
NM_000138.4(FBN1):c.4816+1G>T rs1555397014
NM_000138.4(FBN1):c.4905C>G (p.Thr1635=) rs113115949
NM_000138.4(FBN1):c.4998C>G (p.Thr1666=) rs141925790
NM_000138.4(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.4(FBN1):c.510C>T (p.Tyr170=) rs111671429
NM_000138.4(FBN1):c.5142G>A (p.Met1714Ile) rs368287795
NM_000138.4(FBN1):c.5343G>A (p.Val1781=) rs140649
NM_000138.4(FBN1):c.5371T>C (p.Cys1791Arg) rs1555396427
NM_000138.4(FBN1):c.5372G>A (p.Cys1791Tyr) rs886038848
NM_000138.4(FBN1):c.5423-4G>A rs377036485
NM_000138.4(FBN1):c.5431G>A (p.Glu1811Lys) rs761857514
NM_000138.4(FBN1):c.5724A>G (p.Thr1908=) rs141219664
NM_000138.4(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000138.4(FBN1):c.5959G>C (p.Gly1987Arg) rs727504642
NM_000138.4(FBN1):c.5964C>T (p.Thr1988=) rs113022801
NM_000138.4(FBN1):c.6032G>A (p.Cys2011Tyr) rs886038967
NM_000138.4(FBN1):c.6164-3C>T rs571365493
NM_000138.4(FBN1):c.6189G>A (p.Ala2063=) rs375624881
NM_000138.4(FBN1):c.6302C>T (p.Thr2101Met) rs200816828
NM_000138.4(FBN1):c.6354C>T (p.Ile2118=) rs112989722
NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.4(FBN1):c.6393C>T (p.Cys2131=) rs61730051
NM_000138.4(FBN1):c.6403G>A (p.Asp2135Asn) rs746167150
NM_000138.4(FBN1):c.6446A>G (p.Tyr2149Cys) rs113080385
NM_000138.4(FBN1):c.6594C>T (p.Pro2198=) rs111844882
NM_000138.4(FBN1):c.6681A>C (p.Ser2227=) rs363824
NM_000138.4(FBN1):c.6700G>A (p.Val2234Met) rs112084407
NM_000138.4(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228
NM_000138.4(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.4(FBN1):c.6884G>A (p.Cys2295Tyr) rs886038949
NM_000138.4(FBN1):c.6904T>A (p.Cys2302Ser) rs886039092
NM_000138.4(FBN1):c.6932G>A (p.Arg2311His) rs141868829
NM_000138.4(FBN1):c.6942C>T (p.Tyr2314=) rs372967546
NM_000138.4(FBN1):c.6987C>G (p.Asp2329Glu) rs363831
NM_000138.4(FBN1):c.7039_7040delAT (p.Met2347Valfs) rs794728319
NM_000138.4(FBN1):c.7056C>T (p.Ser2352=) rs149697299
NM_000138.4(FBN1):c.7098C>T (p.Asp2366=) rs1005074
NM_000138.4(FBN1):c.7402T>C (p.Cys2468Arg) rs1085308004
NM_000138.4(FBN1):c.7497A>G (p.Leu2499=) rs148516442
NM_000138.4(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.4(FBN1):c.7617C>T (p.Gly2539=) rs1388794275
NM_000138.4(FBN1):c.762C>T (p.Pro254=) rs374318726
NM_000138.4(FBN1):c.7708G>A (p.Glu2570Lys) rs886038786
NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_000138.4(FBN1):c.7806G>A (p.Trp2602Ter) rs193922236
NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.4(FBN1):c.783T>C (p.Asn261=) rs113721547
NM_000138.4(FBN1):c.7902C>T (p.Pro2634=) rs138621371
NM_000138.4(FBN1):c.7916A>G (p.Tyr2639Cys) rs794728280
NM_000138.4(FBN1):c.7950T>C (p.Asn2650=) rs143055643
NM_000138.4(FBN1):c.79G>A (p.Ala27Thr) rs25397
NM_000138.4(FBN1):c.8006G>T (p.Gly2669Val) rs886038869
NM_000138.4(FBN1):c.8014T>G (p.Cys2672Gly) rs1555393833
NM_000138.4(FBN1):c.8038C>T (p.Arg2680Cys) rs794728283
NM_000138.4(FBN1):c.8283A>T (p.Thr2761=) rs146120912
NM_000138.4(FBN1):c.8311G>A (p.Val2771Ile) rs193922244
NM_000138.4(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466
NM_000138.4(FBN1):c.8363C>T (p.Thr2788Met) rs143007898
NM_000138.4(FBN1):c.8433G>A (p.Gly2811=) rs771873118
NM_000138.4(FBN1):c.8488C>T (p.Gln2830Ter) rs886038795
NM_000138.4(FBN1):c.8502T>C (p.Thr2834=) rs363847
NM_000138.4(FBN1):c.902G>T (p.Gly301Val) rs142888621
NM_000138.4(FBN1):c.986T>C (p.Ile329Thr) rs12324002
NM_000144.4(FXN):c.118C>T (p.Arg40Cys) rs145854903
NM_000144.4(FXN):c.179G>A (p.Arg60His) rs141858334
NM_000144.4(FXN):c.226A>G (p.Met76Val) rs59907886
NM_000144.4(FXN):c.54A>G (p.Pro18=) rs2481598
NM_000144.4(FXN):c.626A>G (p.Asp209Gly) rs74621026
NM_000169.2(GLA):c.123C>T (p.Thr41=) rs137902198
NM_000169.2(GLA):c.129C>T (p.Gly43=) rs146177035
NM_000169.2(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.2(GLA):c.376A>G (p.Ser126Gly) rs149391489
NM_000169.2(GLA):c.416A>G (p.Asn139Ser) rs138886989
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.8T>C (p.Leu3Pro) rs150547672
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000169.2(GLA):c.978G>A (p.Lys326=) rs151195362
NM_000192.3(TBX5):c.1115C>T (p.Ser372Leu) rs143068551
NM_000192.3(TBX5):c.114C>T (p.Ser38=) rs34014008
NM_000192.3(TBX5):c.1234G>A (p.Val412Ile) rs114124210
NM_000192.3(TBX5):c.316A>G (p.Ile106Val) rs147710408
NM_000192.3(TBX5):c.331G>T (p.Asp111Tyr) rs77357563
NM_000192.3(TBX5):c.510+5G>A rs1555226301
NM_000192.3(TBX5):c.55G>T (p.Ala19Ser) rs200461617
NM_000192.3(TBX5):c.787G>A (p.Val263Met) rs147405081
NM_000192.3(TBX5):c.827G>A (p.Ser276Asn) rs147977741
NM_000214.2(JAG1):c.1146C>T (p.Asn382=) rs200133928
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372
NM_000214.3(JAG1):c.1866G>A (p.Thr622=) rs140624746
NM_000214.3(JAG1):c.2043G>A (p.Thr681=) rs151291264
NM_000214.3(JAG1):c.2286C>T (p.Asn762=) rs144190443
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929
NM_000214.3(JAG1):c.267G>A (p.Gly89=) rs1051415
NM_000214.3(JAG1):c.2766C>T (p.Asp922=) rs2229895
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196
NM_000214.3(JAG1):c.294C>T (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.3555C>T (p.Pro1185=) rs142017684
NM_000214.3(JAG1):c.588C>T (p.Cys196=) rs1801138
NM_000214.3(JAG1):c.744A>G (p.Pro248=) rs10485741
NM_000214.3(JAG1):c.765C>T (p.Tyr255=) rs1131695
NM_000214.3(JAG1):c.814G>A (p.Val272Ile) rs148990028
NM_000214.3(JAG1):c.924C>T (p.Asn308=) rs45575136
NM_000218.2(KCNQ1):c.-5T>C rs532941548
NM_000218.2(KCNQ1):c.1024C>T (p.Leu342Phe) rs199472760
NM_000218.2(KCNQ1):c.1031C>A (p.Ala344Glu) rs199472763
NM_000218.2(KCNQ1):c.1075C>T (p.Gln359Ter) rs397508075
NM_000218.2(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.2(KCNQ1):c.1121T>A (p.Leu374His) rs199472767
NM_000218.2(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776
NM_000218.2(KCNQ1):c.1222C>G (p.Pro408Ala) rs28730756
NM_000218.2(KCNQ1):c.1332G>A (p.Thr444=) rs144985256
NM_000218.2(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.2(KCNQ1):c.1394-1G>T rs775537394
NM_000218.2(KCNQ1):c.1455C>T (p.Phe485=) rs17215465
NM_000218.2(KCNQ1):c.1476A>G (p.Glu492=) rs370676650
NM_000218.2(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500
NM_000218.2(KCNQ1):c.1559T>G (p.Met520Arg) rs199473479
NM_000218.2(KCNQ1):c.1573G>A (p.Ala525Thr) rs120074188
NM_000218.2(KCNQ1):c.160_168dupATCGCGCCC (p.Pro56_Gly57insIleAlaPro) rs397515877
NM_000218.2(KCNQ1):c.1616G>A (p.Arg539Gln) rs199472794
NM_000218.2(KCNQ1):c.1637C>T (p.Ser546Leu) rs199473480
NM_000218.2(KCNQ1):c.1664G>A (p.Arg555His) rs199472800
NM_000218.2(KCNQ1):c.1669A>G (p.Lys557Glu) rs199472801
NM_000218.2(KCNQ1):c.1686-2A>G rs878854350
NM_000218.2(KCNQ1):c.1702G>A (p.Gly568Arg) rs199472807
NM_000218.2(KCNQ1):c.1749C>T (p.Arg583=) rs200670744
NM_000218.2(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815
NM_000218.2(KCNQ1):c.1781G>C (p.Arg594Pro) rs199472815
NM_000218.2(KCNQ1):c.1799C>T (p.Thr600Met) rs34516117
NM_000218.2(KCNQ1):c.1800G>A (p.Thr600=) rs147091980
NM_000218.2(KCNQ1):c.1860C>T (p.His620=) rs139893266
NM_000218.2(KCNQ1):c.1875C>T (p.Pro625=) rs112113213
NM_000218.2(KCNQ1):c.1876G>A (p.Gly626Ser) rs199472821
NM_000218.2(KCNQ1):c.1893dupC (p.Arg632Glnfs) rs397508104
NM_000218.2(KCNQ1):c.1902C>T (p.Gly634=) rs774046442
NM_000218.2(KCNQ1):c.1926C>T (p.Cys642=) rs12720454
NM_000218.2(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172
NM_000218.2(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427
NM_000218.2(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000218.2(KCNQ1):c.225T>C (p.Val75=) rs367817352
NM_000218.2(KCNQ1):c.31G>A (p.Glu11Lys) rs959449103
NM_000218.2(KCNQ1):c.421G>A (p.Val141Met) rs199472687
NM_000218.2(KCNQ1):c.430A>G (p.Thr144Ala) rs199473451
NM_000218.2(KCNQ1):c.435C>T (p.Ile145=) rs1800170
NM_000218.2(KCNQ1):c.447C>T (p.Ala149=) rs146436765
NM_000218.2(KCNQ1):c.459G>A (p.Thr153=) rs148121889
NM_000218.2(KCNQ1):c.488delT (p.Leu163Argfs) rs397508112
NM_000218.2(KCNQ1):c.513C>T (p.Tyr171=) rs139042529
NM_000218.2(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000218.2(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394
NM_000218.2(KCNQ1):c.573_577delGCGCT (p.Arg192Cysfs) rs397508118
NM_000218.2(KCNQ1):c.584G>A (p.Arg195Gln) rs138362632
NM_000218.2(KCNQ1):c.642C>T (p.Cys214=) rs775479779
NM_000218.2(KCNQ1):c.720C>T (p.His240=) rs28730754
NM_000218.2(KCNQ1):c.760G>A (p.Val254Met) rs120074179
NM_000218.2(KCNQ1):c.775C>T (p.Arg259Cys) rs199472719
NM_000218.2(KCNQ1):c.797T>C (p.Leu266Pro) rs199473460
NM_000218.2(KCNQ1):c.811C>T (p.Leu271=) rs189991547
NM_000218.2(KCNQ1):c.830C>T (p.Ser277Leu) rs199472730
NM_000218.2(KCNQ1):c.877C>T (p.Arg293Cys) rs199472737
NM_000218.2(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187
NM_000218.2(KCNQ1):c.905C>T (p.Ala302Val) rs193922365
NM_000218.2(KCNQ1):c.914G>C (p.Trp305Ser) rs120074186
NM_000218.2(KCNQ1):c.944A>G (p.Tyr315Cys) rs74462309
NM_000218.2(KCNQ1):c.965C>T (p.Thr322Met) rs199472755
NM_000219.5(KCNE1):c.162C>T (p.Phe54=) rs17173508
NM_000219.5(KCNE1):c.199C>T (p.Arg67Cys) rs199473645
NM_000219.5(KCNE1):c.226G>A (p.Asp76Asn) rs74315445
NM_000219.5(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000219.5(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000219.5(KCNE1):c.29C>T (p.Thr10Met) rs144917638
NM_000219.5(KCNE1):c.30G>A (p.Thr10=) rs187686559
NM_000219.5(KCNE1):c.315G>A (p.Ser105=) rs563859144
NM_000219.5(KCNE1):c.374C>T (p.Thr125Met) rs142511345
NM_000219.5(KCNE1):c.54G>A (p.Gln18=) rs149875299
NM_000219.5(KCNE1):c.84G>A (p.Ser28=) rs17173510
NM_000238.3(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684
NM_000238.3(KCNH2):c.1128G>A (p.Gln376=) rs770047651
NM_000238.3(KCNH2):c.1320G>T (p.Pro440=) rs144926928
NM_000238.3(KCNH2):c.1332G>A (p.Glu444=) rs9770044
NM_000238.3(KCNH2):c.1353G>A (p.Pro451=) rs763446458
NM_000238.3(KCNH2):c.1467C>T (p.Ile489=) rs740952
NM_000238.3(KCNH2):c.1471G>A (p.Val491Ile) rs374376640
NM_000238.3(KCNH2):c.1501G>A (p.Asp501Asn) rs199472912
NM_000238.3(KCNH2):c.1525G>A (p.Asp509Asn) rs370637245
NM_000238.3(KCNH2):c.1528C>T (p.Leu510=) rs75648145
NM_000238.3(KCNH2):c.1539C>T (p.Phe513=) rs1805120
NM_000238.3(KCNH2):c.1558-5C>T rs114186001
NM_000238.3(KCNH2):c.1563C>T (p.Ile521=) rs143011005
NM_000238.3(KCNH2):c.1581G>A (p.Ala527=) rs150275982
NM_000238.3(KCNH2):c.1682C>T (p.Ala561Val) rs121912504
NM_000238.3(KCNH2):c.1692A>G (p.Leu564=) rs1805121
NM_000238.3(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428
NM_000238.3(KCNH2):c.1800C>T (p.Ser600=) rs143518632
NM_000238.3(KCNH2):c.1801G>A (p.Gly601Ser) rs199472936
NM_000238.3(KCNH2):c.1809C>T (p.Gly603=) rs41314375
NM_000238.3(KCNH2):c.1838C>T (p.Thr613Met) rs199473524
NM_000238.3(KCNH2):c.1894C>T (p.Pro632Ser) rs199473527
NM_000238.3(KCNH2):c.1898A>G (p.Asn633Ser) rs199472961
NM_000238.3(KCNH2):c.1956T>C (p.Tyr652=) rs1137617
NM_000238.3(KCNH2):c.1979C>T (p.Ser660Leu) rs199472979
NM_000238.3(KCNH2):c.2127C>T (p.Asn709=) rs768572372
NM_000238.3(KCNH2):c.215C>A (p.Pro72Gln) rs199473421
NM_000238.3(KCNH2):c.2254C>T (p.Arg752Trp) rs199472990
NM_000238.3(KCNH2):c.2371C>T (p.Arg791Trp) rs138498207
NM_000238.3(KCNH2):c.2376C>T (p.Gly792=) rs745993706
NM_000238.3(KCNH2):c.2414T>G (p.Phe805Cys) rs199472999
NM_000238.3(KCNH2):c.2454G>A (p.Ser818=) rs72549418
NM_000238.3(KCNH2):c.2467C>T (p.Arg823Trp) rs199473538
NM_000238.3(KCNH2):c.2674C>T (p.Arg892Cys) rs201627778
NM_000238.3(KCNH2):c.2690A>C (p.Lys897Thr) rs1805123
NM_000238.3(KCNH2):c.2738C>T (p.Ala913Val) rs77331749
NM_000238.3(KCNH2):c.2771G>A (p.Gly924Glu) rs199473009
NM_000238.3(KCNH2):c.2860C>T (p.Arg954Cys) rs141401803
NM_000238.3(KCNH2):c.2900C>T (p.Pro967Leu) rs199473016
NM_000238.3(KCNH2):c.2904G>A (p.Pro968=) rs75005975
NM_000238.3(KCNH2):c.2941A>G (p.Ser981Gly) rs76649554
NM_000238.3(KCNH2):c.298C>G (p.Arg100Gly) rs121912515
NM_000238.3(KCNH2):c.3063C>T (p.Ser1021=) rs199767579
NM_000238.3(KCNH2):c.3111C>T (p.Asp1037=) rs200799870
NM_000238.3(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.3(KCNH2):c.3153-4C>T rs181119727
NM_000238.3(KCNH2):c.3164G>A (p.Arg1055Gln) rs41307270
NM_000238.3(KCNH2):c.3203A>G (p.Gln1068Arg) rs151031345
NM_000238.3(KCNH2):c.3228C>T (p.Pro1076=) rs41312087
NM_000238.3(KCNH2):c.3321G>A (p.Ser1107=) rs189457419
NM_000238.3(KCNH2):c.3436A>T (p.Thr1146Ser) rs778879572
NM_000238.3(KCNH2):c.422C>T (p.Pro141Leu) rs199472864
NM_000238.3(KCNH2):c.442C>T (p.Arg148Trp) rs139544114
NM_000238.3(KCNH2):c.51C>G (p.Thr17=) rs144338227
NM_000238.3(KCNH2):c.526C>T (p.Arg176Trp) rs36210422
NM_000238.3(KCNH2):c.542G>A (p.Arg181Gln) rs41308954
NM_000238.3(KCNH2):c.558C>T (p.Gly186=) rs139533994
NM_000238.3(KCNH2):c.560_568delGCGCGGGCG (p.Gly187_Gly189del) rs551056698
NM_000238.3(KCNH2):c.621C>T (p.Ser207=) rs41314417
NM_000238.3(KCNH2):c.982C>T (p.Arg328Cys) rs199473505
NM_000256.3(MYBPC3):c.108A>G (p.Ala36=) rs754870909
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076
NM_000256.3(MYBPC3):c.1286C>T (p.Ala429Val) rs370412052
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly) rs397515905
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907
NM_000256.3(MYBPC3):c.1513_1515delAAG (p.Lys505del) rs727504287
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) rs181834806
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr) rs11570082
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1602G>A (p.Ala534=) rs370945942
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422
NM_000256.3(MYBPC3):c.1624+2T>C rs111437311
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg) rs199728019
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln) rs727503195
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=) rs397515929
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn) rs376736293
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn) rs371564200
NM_000256.3(MYBPC3):c.1829A>T (p.Asp610Val) rs730880554
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299
NM_000256.3(MYBPC3):c.1863C>T (p.Phe621=) rs193922378
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His) rs727503191
NM_000256.3(MYBPC3):c.2149-5C>T rs36211722
NM_000256.3(MYBPC3):c.2179G>A (p.Val727Met) rs564378953
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723
NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter) rs863225106
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796
NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu) rs375675796
NM_000256.3(MYBPC3):c.2460G>A (p.Arg820=) rs532996422
NM_000256.3(MYBPC3):c.2487G>T (p.Leu829=) rs201040413
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688
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.26-2A>G rs376395543
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097
NM_000256.3(MYBPC3):c.2614G>A (p.Glu872Lys) rs190765116
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His) rs371401403
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470
NM_000256.3(MYBPC3):c.2737+5G>A rs398123280
NM_000256.3(MYBPC3):c.2800C>T (p.Leu934=) rs367980215
NM_000256.3(MYBPC3):c.2864_2865delCT (p.Pro955Argfs) rs397515990
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380
NM_000256.3(MYBPC3):c.2873C>T (p.Thr958Ile) rs376504548
NM_000256.3(MYBPC3):c.2905+1G>A rs397515991
NM_000256.3(MYBPC3):c.2961C>T (p.Val987=) rs761700877
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112
NM_000256.3(MYBPC3):c.2997C>T (p.Gly999=) rs377283955
NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp) rs3729799
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys) rs61729664
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958
NM_000256.3(MYBPC3):c.3276C>T (p.Val1092=) rs376344765
NM_000256.3(MYBPC3):c.3279C>T (p.Gly1093=) rs36212064
NM_000256.3(MYBPC3):c.3285G>A (p.Thr1095=) rs367927327
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377
NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=) rs1052373
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000256.3(MYBPC3):c.3330+5G>T rs373746463
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037
NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=) rs200162906
NM_000256.3(MYBPC3):c.373_374delGC (p.Ala125Terfs) rs1057517767
NM_000256.3(MYBPC3):c.3742_3759dup18 (p.Cys1253_Arg1254insGlyGlyIleTyrValCys) rs193922384
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr) rs727503167
NM_000256.3(MYBPC3):c.3776delA (p.Gln1259Argfs) rs727503166
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.450C>T (p.Pro150=) rs377520770
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.481C>A (p.Pro161Thr) rs397516053
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=) rs3218719
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766
NM_000256.3(MYBPC3):c.531C>T (p.Arg177=) rs368035400
NM_000256.3(MYBPC3):c.537C>T (p.Ala179=) rs11570051
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052
NM_000256.3(MYBPC3):c.604A>C (p.Lys202Gln) rs730880623
NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys) rs397516063
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) rs201098973
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly) rs138753870
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His) rs730880624
NM_000256.3(MYBPC3):c.721G>C (p.Val241Leu) rs886039000
NM_000256.3(MYBPC3):c.772+1G>A rs397516072
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074
NM_000256.3(MYBPC3):c.786C>T (p.Thr262=) rs11570058
NM_000256.3(MYBPC3):c.799C>G (p.Leu267Val) rs370941975
NM_000256.3(MYBPC3):c.821+1G>A rs397516073
NM_000256.3(MYBPC3):c.833delG (p.Gly278Glufs) rs727503212
NM_000256.3(MYBPC3):c.909C>T (p.Asp303=) rs200713257
NM_000256.3(MYBPC3):c.927-9G>A rs397516083
NM_000256.3(MYBPC3):c.933G>C (p.Ser311=) rs374326087
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776
NM_000256.3(MYBPC3):c.999C>T (p.Tyr333=) rs367947846
NM_000257.2(MYH7):c.1370T>C (p.Ile457Thr) rs397516103
NM_000257.2(MYH7):c.1477A>G (p.Met493Val) rs730880875
NM_000257.2(MYH7):c.1681G>A (p.Ala561Thr) rs730880878
NM_000257.2(MYH7):c.2332G>A (p.Asp778Asn) rs730880895
NM_000257.2(MYH7):c.2788G>A (p.Glu930Lys) rs397516171
NM_000257.2(MYH7):c.3020T>C (p.Leu1007Pro) rs730880763
NM_000257.2(MYH7):c.4499G>A (p.Arg1500Gln) rs121913647
NM_000257.2(MYH7):c.5139G>A (p.Val1713=) rs369562442
NM_000257.2(MYH7):c.709C>T (p.Arg237Trp) rs45516091
NM_000257.2(MYH7):c.758G>T (p.Gly253Val) rs730880853
NM_000257.3(MYH7):c.1046T>C (p.Met349Thr) rs121913640
NM_000257.3(MYH7):c.1051A>G (p.Lys351Glu) rs730880864
NM_000257.3(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.3(MYH7):c.1191G>A (p.Lys397=) rs139506719
NM_000257.3(MYH7):c.1230C>T (p.Tyr410=) rs150885220
NM_000257.3(MYH7):c.1231G>A (p.Val411Ile) rs730880868
NM_000257.3(MYH7):c.1301G>A (p.Arg434Lys) rs786205356
NM_000257.3(MYH7):c.1324C>T (p.Arg442Cys) rs148808089
NM_000257.3(MYH7):c.1491G>T (p.Glu497Asp) rs267606911
NM_000257.3(MYH7):c.153C>T (p.Ile51=) rs373145667
NM_000257.3(MYH7):c.1632C>T (p.Thr544=) rs587781089
NM_000257.3(MYH7):c.1633G>A (p.Asp545Asn) rs564101364
NM_000257.3(MYH7):c.1671G>A (p.Leu557=) rs149386750
NM_000257.3(MYH7):c.1750G>A (p.Gly584Ser) rs121913626
NM_000257.3(MYH7):c.1816G>A (p.Val606Met) rs121913627
NM_000257.3(MYH7):c.1987C>T (p.Arg663Cys) rs397516127
NM_000257.3(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.3(MYH7):c.2080C>T (p.Arg694Cys) rs727504240
NM_000257.3(MYH7):c.2081G>A (p.Arg694His) rs886039030
NM_000257.3(MYH7):c.2091T>C (p.Gly697=) rs140380523
NM_000257.3(MYH7):c.2221G>A (p.Gly741Arg) rs121913632
NM_000257.3(MYH7):c.2302G>A (p.Gly768Arg) rs727503260
NM_000257.3(MYH7):c.2334C>T (p.Asp778=) rs2069544
NM_000257.3(MYH7):c.2348G>A (p.Arg783His) rs397516142
NM_000257.3(MYH7):c.2349C>T (p.Arg783=) rs139882431
NM_000257.3(MYH7):c.2389G>A (p.Ala797Thr) rs3218716
NM_000257.3(MYH7):c.2526T>C (p.Ser842=) rs554560162
NM_000257.3(MYH7):c.2536G>C (p.Glu846Gln) rs730880748
NM_000257.3(MYH7):c.2539_2541delAAG (p.Lys847del) rs397516155
NM_000257.3(MYH7):c.2602G>C (p.Ala868Pro) rs727504356
NM_000257.3(MYH7):c.2711G>A (p.Arg904His) rs397516165
NM_000257.3(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.3(MYH7):c.2782G>A (p.Asp928Asn) rs727503252
NM_000257.3(MYH7):c.2863G>A (p.Asp955Asn) rs886039204
NM_000257.3(MYH7):c.2890G>C (p.Val964Leu) rs45496496
NM_000257.3(MYH7):c.3621C>G (p.Ile1207Met) rs529700838
NM_000257.3(MYH7):c.3622G>A (p.Asp1208Asn) rs730880781
NM_000257.3(MYH7):c.3682C>T (p.Leu1228=) rs560995739
NM_000257.3(MYH7):c.4135G>A (p.Ala1379Thr) rs397516202
NM_000257.3(MYH7):c.4158C>T (p.Leu1386=) rs886050418
NM_000257.3(MYH7):c.4188G>A (p.Arg1396=) rs200852418
NM_000257.3(MYH7):c.4239G>A (p.Ser1413=) rs3729821
NM_000257.3(MYH7):c.4283T>C (p.Leu1428Ser) rs727503244
NM_000257.3(MYH7):c.4498C>T (p.Arg1500Trp) rs45544633
NM_000257.3(MYH7):c.4806C>T (p.Asp1602=) rs142034311
NM_000257.3(MYH7):c.4817G>A (p.Arg1606His) rs373514686
NM_000257.3(MYH7):c.540C>A (p.Ser180=) rs369490861
NM_000257.3(MYH7):c.5562G>A (p.Thr1854=) rs368706722
NM_000257.3(MYH7):c.714C>T (p.Asn238=) rs202141819
NM_000257.3(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.3(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000257.3(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000257.3(MYH7):c.957C>T (p.Thr319=) rs368699342
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.1106G>A (p.Arg369Gln) rs397516089
NM_000257.4(MYH7):c.1119G>A (p.Ala373=) rs572672362
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625
NM_000257.4(MYH7):c.1395C>T (p.Phe465=) rs45508293
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2162+4G>A rs145738465
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr) rs727503261
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2358G>T (p.Thr786=) rs36211714
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645
NM_000257.4(MYH7):c.261C>T (p.Ile87=) rs148560996
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716
NM_000257.4(MYH7):c.2907C>T (p.His969=) rs142573531
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=) rs138294643
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln) rs587782962
NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser) rs397516179
NM_000257.4(MYH7):c.327C>T (p.Tyr109=) rs36211408
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699
NM_000257.4(MYH7):c.3337-3dup rs45504498
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) rs574005462
NM_000257.4(MYH7):c.3918C>T (p.Leu1306=) rs144420313
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) rs141764279
NM_000257.4(MYH7):c.4005G>A (p.Ser1335=) rs144465613
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201
NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys) rs397516208
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101
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.4588C>T (p.Arg1530Ter) rs397516225
NM_000257.4(MYH7):c.4671G>A (p.Lys1557=) rs200601164
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=) rs7140196
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr) rs141122361
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) rs200939753
NM_000257.4(MYH7):c.5704G>C (p.Glu1902Gln) rs187073962
NM_000257.4(MYH7):c.5736C>T (p.Ile1912=) rs200728597
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.930T>C (p.Tyr310=) rs111626355
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124
NM_000258.2(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000258.2(MYL3):c.170C>G (p.Ala57Gly) rs139794067
NM_000258.2(MYL3):c.286C>T (p.Leu96=) rs772804040
NM_000258.2(MYL3):c.411G>T (p.Leu137=) rs2233265
NM_000258.2(MYL3):c.427G>A (p.Glu143Lys) rs104893750
NM_000258.2(MYL3):c.461G>A (p.Arg154His) rs104893749
NM_000258.2(MYL3):c.477G>T (p.Thr159=) rs148365503
NM_000258.2(MYL3):c.69C>T (p.Pro23=) rs2233264
NM_000258.2(MYL3):c.81T>C (p.Pro27=) rs147584015
NM_000302.3(PLOD1):c.1098-3C>T rs541901674
NM_000302.3(PLOD1):c.1141G>A (p.Val381Met) rs2230896
NM_000302.3(PLOD1):c.1164C>T (p.Thr388=) rs74949176
NM_000302.3(PLOD1):c.1203-3C>T rs376288573
NM_000302.3(PLOD1):c.1321C>T (p.Arg441Trp) rs11553676
NM_000302.3(PLOD1):c.1428G>A (p.Lys476=) rs139869965
NM_000302.3(PLOD1):c.1495C>T (p.Arg499Trp) rs149124387
NM_000302.3(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756
NM_000302.3(PLOD1):c.1632A>C (p.Ala544=) rs2230898
NM_000302.3(PLOD1):c.177C>T (p.Gly59=) rs34032489
NM_000302.3(PLOD1):c.1788G>T (p.Val596=) rs35460537
NM_000302.3(PLOD1):c.1927G>A (p.Val643Ile) rs149425237
NM_000302.3(PLOD1):c.2075C>T (p.Pro692Leu) rs557317492
NM_000302.3(PLOD1):c.2124T>C (p.His708=) rs879690
NM_000302.3(PLOD1):c.2133C>G (p.Leu711=) rs879691
NM_000302.3(PLOD1):c.250G>A (p.Ala84Thr) rs34878020
NM_000302.3(PLOD1):c.303C>T (p.Ser101=) rs147980436
NM_000302.3(PLOD1):c.509A>T (p.Glu170Val) rs554232128
NM_000302.3(PLOD1):c.535G>T (p.Asp179Tyr) rs188165334
NM_000302.3(PLOD1):c.540G>A (p.Gln180=) rs35958757
NM_000302.3(PLOD1):c.555G>T (p.Lys185Asn) rs142978362
NM_000302.3(PLOD1):c.564G>C (p.Leu188Phe) rs201888323
NM_000302.3(PLOD1):c.804C>T (p.Thr268=) rs140758113
NM_000302.3(PLOD1):c.975C>T (p.His325=) rs761576315
NM_000335.4(SCN5A):c.1336G>A (p.Glu446Lys) rs199473339
NM_000335.4(SCN5A):c.1714_1715delGCinsTT (p.Ala572Phe) rs730880211
NM_000335.4(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452
NM_000335.4(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304
NM_000335.4(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235
NM_000335.4(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344
NM_000335.4(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000335.4(SCN5A):c.3919C>T (p.Leu1307Phe) rs41313031
NM_000335.4(SCN5A):c.393-5C>A rs368678204
NM_000335.4(SCN5A):c.4845C>T (p.Phe1615=) rs41315495
NM_000335.4(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604
NM_000335.4(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316
NM_000335.4(SCN5A):c.5474G>A (p.Arg1825His) rs137854610
NM_000335.4(SCN5A):c.5504T>C (p.Ile1835Thr) rs45563942
NM_000335.4(SCN5A):c.5690G>A (p.Arg1897His) rs370694515
NM_000335.4(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233
NM_000335.4(SCN5A):c.5841C>T (p.Ile1947=) rs13324293
NM_000335.4(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.4(SCN5A):c.659C>T (p.Thr220Ile) rs45620037
NM_000335.4(SCN5A):c.673C>T (p.Arg225Trp) rs199473072
NM_000335.4(SCN5A):c.694G>A (p.Val232Ile) rs45471994
NM_000337.5(SGCD):c.290G>A (p.Arg97Gln) rs45559835
NM_000337.5(SGCD):c.402T>C (p.Ala134=) rs190935424
NM_000337.5(SGCD):c.507G>A (p.Ala169=) rs10071079
NM_000337.5(SGCD):c.510G>A (p.Glu170=) rs368838376
NM_000363.4(TNNI3):c.198G>A (p.Glu66=) rs3729710
NM_000363.4(TNNI3):c.204G>T (p.Arg68=) rs3729711
NM_000363.4(TNNI3):c.235C>T (p.Arg79Cys) rs3729712
NM_000363.4(TNNI3):c.244C>T (p.Pro82Ser) rs77615401
NM_000363.4(TNNI3):c.25-4C>T rs202086705
NM_000363.4(TNNI3):c.434G>A (p.Arg145Gln) rs397516349
NM_000363.4(TNNI3):c.484C>T (p.Arg162Trp) rs368861241
NM_000363.4(TNNI3):c.485G>A (p.Arg162Gln) rs397516354
NM_000363.4(TNNI3):c.523C>T (p.Gln175Ter) rs876661394
NM_000363.4(TNNI3):c.537G>A (p.Glu179=) rs3729841
NM_000363.4(TNNI3):c.557G>A (p.Arg186Gln) rs397516357
NM_000363.4(TNNI3):c.575G>A (p.Arg192His) rs104894729
NM_000364.3(TNNT2):c.853C>T (p.Arg285Cys) rs121964857
NM_000364.3(TNNT2):c.877C>T (p.Arg293Cys) rs367785431
NM_000366.5(TPM1):c.375-3C>T rs202228866
NM_000366.5(TPM1):c.845C>G (p.Thr282Ser) rs397516395
NM_000371.3(TTR):c.14G>A (p.Arg5His) rs138657343
NM_000371.3(TTR):c.328C>A (p.His110Asn) rs121918074
NM_000371.3(TTR):c.354C>T (p.Asn118=) rs11541797
NM_000371.3(TTR):c.360C>T (p.Ser120=) rs150127220
NM_000371.3(TTR):c.371G>A (p.Arg124His) rs121918095
NM_000371.3(TTR):c.416C>T (p.Thr139Met) rs28933981
NM_000371.3(TTR):c.417G>A (p.Thr139=) rs2276382
NM_000371.3(TTR):c.437A>G (p.Lys146Arg) rs536294863
NM_000393.3(COL5A2):c.1081A>C (p.Met361Leu) rs76148000
NM_000393.3(COL5A2):c.1301C>T (p.Thr434Met) rs145850743
NM_000393.3(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636
NM_000393.3(COL5A2):c.1400C>T (p.Pro467Leu) rs115570272
NM_000393.3(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046
NM_000393.3(COL5A2):c.198T>C (p.Asn66=) rs76511879
NM_000393.3(COL5A2):c.1A>G (p.Met1Val) rs563606558
NM_000393.3(COL5A2):c.2562C>T (p.Asp854=) rs148430780
NM_000393.3(COL5A2):c.261G>A (p.Thr87=) rs142044596
NM_000393.3(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175
NM_000393.3(COL5A2):c.3690A>C (p.Thr1230=) rs10197596
NM_000393.3(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525
NM_000393.3(COL5A2):c.4450G>A (p.Gly1484Ser) rs147420365
NM_000393.3(COL5A2):c.75A>G (p.Lys25=) rs549894501
NM_000393.4(COL5A2):c.1017A>C (p.Gly339=) rs140609193
NM_000393.4(COL5A2):c.1035G>C (p.Gly345=) rs148786600
NM_000393.4(COL5A2):c.1182G>A (p.Ala394=) rs148229627
NM_000393.4(COL5A2):c.1454C>A (p.Pro485Gln) rs145281966
NM_000393.4(COL5A2):c.1535T>C (p.Val512Ala) rs35852101
NM_000393.4(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969
NM_000393.4(COL5A2):c.2392-4A>G rs758314268
NM_000393.4(COL5A2):c.2492G>C (p.Gly831Ala) rs141210030
NM_000393.4(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748
NM_000393.4(COL5A2):c.249C>T (p.Ala83=) rs142388534
NM_000393.4(COL5A2):c.2544C>T (p.Ala848=) rs370774253
NM_000393.4(COL5A2):c.2988C>T (p.Gly996=) rs201299226
NM_000393.4(COL5A2):c.3098C>T (p.Pro1033Leu) rs75542756
NM_000393.4(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395
NM_000393.4(COL5A2):c.33C>T (p.Leu11=) rs140108893
NM_000393.4(COL5A2):c.3837T>C (p.Ile1279=) rs148795690
NM_000393.4(COL5A2):c.403-3T>C rs369733690
NM_000393.4(COL5A2):c.4173C>G (p.Arg1391=) rs148590409
NM_000393.4(COL5A2):c.4197G>A (p.Gln1399=) rs78870279
NM_000393.4(COL5A2):c.4240G>A (p.Asp1414Asn) rs139229616
NM_000393.4(COL5A2):c.4389A>G (p.Glu1463=) rs146100075
NM_000393.4(COL5A2):c.4392T>C (p.Tyr1464=) rs142544320
NM_000393.4(COL5A2):c.4409C>T (p.Ala1470Val) rs140109751
NM_000393.4(COL5A2):c.4449C>T (p.Gly1483=) rs78905646
NM_000393.4(COL5A2):c.4495G>T (p.Val1499Leu) rs527433112
NM_000393.4(COL5A2):c.750G>A (p.Pro250=) rs751819198
NM_000393.4(COL5A2):c.975C>T (p.Pro325=) rs144344474
NM_000432.3(MYL2):c.132T>C (p.Ile44=) rs2301610
NM_000432.3(MYL2):c.141C>A (p.Asn47Lys) rs199474808
NM_000432.3(MYL2):c.170G>A (p.Gly57Glu) rs199474809
NM_000432.3(MYL2):c.173G>A (p.Arg58Gln) rs104894369
NM_000432.3(MYL2):c.243G>T (p.Val81=) rs368851472
NM_000432.3(MYL2):c.279G>A (p.Ala93=) rs28645088
NM_000432.3(MYL2):c.36C>T (p.Gly12=) rs139794370
NM_000432.3(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_000432.3(MYL2):c.401A>C (p.Glu134Ala) rs143139258
NM_000432.3(MYL2):c.426delC (p.Pro144Leufs) rs786205430
NM_000432.3(MYL2):c.456C>T (p.Tyr152=) rs199815885
NM_000432.3(MYL2):c.52T>C (p.Phe18Leu) rs104894370
NM_000719.6(CACNA1C):c.1074G>A (p.Gln358=) rs139842134
NM_000719.6(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613
NM_000719.6(CACNA1C):c.1176G>T (p.Gly392=) rs1051360
NM_000719.6(CACNA1C):c.1359C>T (p.Asp453=) rs200330469
NM_000719.6(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775
NM_000719.6(CACNA1C):c.171C>T (p.Asp57=) rs34419050
NM_000719.6(CACNA1C):c.1783G>A (p.Val595Ile) rs201392574
NM_000719.6(CACNA1C):c.1794C>T (p.Gly598=) rs116491041
NM_000719.6(CACNA1C):c.213G>A (p.Ala71=) rs113869350
NM_000719.6(CACNA1C):c.2280G>A (p.Glu760=) rs141633456
NM_000719.6(CACNA1C):c.2449C>T (p.Pro817Ser) rs112532048
NM_000719.6(CACNA1C):c.2766G>A (p.Pro922=) rs184684058
NM_000719.6(CACNA1C):c.3114G>C (p.Leu1038=) rs114139824
NM_000719.6(CACNA1C):c.3201G>A (p.Ala1067=) rs758461435
NM_000719.6(CACNA1C):c.3234C>T (p.Asp1078=) rs111606207
NM_000719.6(CACNA1C):c.3387G>A (p.Thr1129=) rs188224114
NM_000719.6(CACNA1C):c.3531C>T (p.Tyr1177=) rs754527651
NM_000719.6(CACNA1C):c.3642C>T (p.Tyr1214=) rs56394008
NM_000719.6(CACNA1C):c.375A>G (p.Pro125=) rs587780882
NM_000719.6(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230
NM_000719.6(CACNA1C):c.3948C>T (p.Asn1316=) rs150092451
NM_000719.6(CACNA1C):c.4038C>T (p.Ile1346=) rs56180838
NM_000719.6(CACNA1C):c.4075-4C>A rs369044605
NM_000719.6(CACNA1C):c.4140+4G>A rs111442547
NM_000719.6(CACNA1C):c.4317C>T (p.Asn1439=) rs183192651
NM_000719.6(CACNA1C):c.4659C>T (p.Asp1553=) rs563090568
NM_000719.6(CACNA1C):c.4761G>A (p.Ala1587=) rs756364065
NM_000719.6(CACNA1C):c.5064C>T (p.Ser1688=) rs139872789
NM_000719.6(CACNA1C):c.5097C>T (p.Ala1699=) rs113595214
NM_000719.6(CACNA1C):c.5119G>A (p.Val1707Ile) rs147896322
NM_000719.6(CACNA1C):c.5139C>T (p.Asp1713=) rs115216455
NM_000719.6(CACNA1C):c.5149G>A (p.Ala1717Thr) rs200865354
NM_000719.6(CACNA1C):c.5199G>A (p.Ala1733=) rs200638007
NM_000719.6(CACNA1C):c.5214C>A (p.Gly1738=) rs199538058
NM_000719.6(CACNA1C):c.5214C>T (p.Gly1738=) rs199538058
NM_000719.6(CACNA1C):c.5235C>T (p.His1745=) rs201861473
NM_000719.6(CACNA1C):c.5292C>T (p.Asn1764=) rs72552065
NM_000719.6(CACNA1C):c.5360C>T (p.Thr1787Met) rs192749597
NM_000719.6(CACNA1C):c.537C>T (p.Ile179=) rs369673473
NM_000719.6(CACNA1C):c.5383G>A (p.Gly1795Arg) rs111298509
NM_000719.6(CACNA1C):c.5391C>G (p.Pro1797=) rs376124689
NM_000719.6(CACNA1C):c.5424G>A (p.Ala1808=) rs587780881
NM_000719.6(CACNA1C):c.5478G>A (p.Ala1826=) rs200283756
NM_000719.6(CACNA1C):c.5529T>C (p.His1843=) rs371831239
NM_000719.6(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105
NM_000719.6(CACNA1C):c.5604A>G (p.Gln1868=) rs11062316
NM_000719.6(CACNA1C):c.5649G>A (p.Pro1883=) rs56270948
NM_000719.6(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586
NM_000719.6(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325
NM_000719.6(CACNA1C):c.6006C>T (p.Gly2002=) rs373253192
NM_000719.6(CACNA1C):c.6031G>A (p.Val2011Ile) rs193922615
NM_000719.6(CACNA1C):c.6040G>A (p.Val2014Ile) rs199473660
NM_000719.6(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446
NM_000719.6(CACNA1C):c.6342G>A (p.Ala2114=) rs368073321
NM_000719.6(CACNA1C):c.6344G>C (p.Gly2115Ala) rs199694744
NM_000719.6(CACNA1C):c.666C>T (p.Asn222=) rs527741368
NM_000719.6(CACNA1C):c.724C>T (p.Leu242=) rs200800133
NM_000719.6(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421
NM_000719.6(CACNA1C):c.966C>T (p.His322=) rs112539787
NM_000719.6(CACNA1C):c.984C>T (p.Asn328=) rs374050127
NM_000722.3(CACNA2D1):c.1956-4delT rs3083235
NM_000722.3(CACNA2D1):c.1956-5_1956-4dupTT rs3083235
NM_000722.3(CACNA2D1):c.1983G>A (p.Ser661=) rs75158917
NM_000722.3(CACNA2D1):c.2264G>C (p.Ser755Thr) rs151327713
NM_000722.3(CACNA2D1):c.2673A>G (p.Val891=) rs142553634
NM_000722.3(CACNA2D1):c.3134A>C (p.Asp1045Ala) rs35131433
NM_000722.3(CACNA2D1):c.831C>G (p.Ser277=) rs144936173
NM_000722.3(CACNA2D1):c.960C>T (p.Asp320=) rs199512133
NM_000724.3(CACNB2):c.1346C>T (p.Thr449Ile) rs143326262
NM_000724.3(CACNB2):c.1426C>T (p.Arg476Cys) rs202152674
NM_000724.3(CACNB2):c.1611C>A (p.Asp537Glu) rs144182966
NM_000724.3(CACNB2):c.215C>T (p.Ala72Val) rs200367454
NM_000724.3(CACNB2):c.425C>T (p.Ser142Phe) rs150528041
NM_000724.3(CACNB2):c.476G>C (p.Ser159Thr) rs149253719
NM_000890.4(KCNJ5):c.121C>T (p.Arg41Cys) rs115012103
NM_000891.2(KCNJ2):c.-2C>T rs144760658
NM_000891.2(KCNJ2):c.1044C>T (p.Tyr348=) rs146330042
NM_000891.2(KCNJ2):c.1065T>G (p.Leu355=) rs139564374
NM_000891.2(KCNJ2):c.1229A>G (p.Asn410Ser) rs141069645
NM_000891.2(KCNJ2):c.174C>T (p.Phe58=) rs587781006
NM_000891.2(KCNJ2):c.213C>T (p.Asp71=) rs150671256
NM_000891.2(KCNJ2):c.245G>A (p.Arg82Gln) rs199473653
NM_000891.2(KCNJ2):c.867C>T (p.Asn289=) rs201909993
NM_000891.2(KCNJ2):c.919A>G (p.Met307Val) rs1555603994
NM_001001430.2(TNNT2):c.170-4C>G rs397516448
NM_001001430.2(TNNT2):c.207G>A (p.Ser69=) rs3729845
NM_001001430.2(TNNT2):c.251G>C (p.Arg84Thr) rs397516452
NM_001001430.2(TNNT2):c.257A>C (p.Asp86Ala) rs397516455
NM_001001430.2(TNNT2):c.275G>A (p.Arg92Gln) rs121964856
NM_001001430.2(TNNT2):c.280C>T (p.Arg94Cys) rs727503513
NM_001001430.2(TNNT2):c.281G>A (p.Arg94His) rs397516457
NM_001001430.2(TNNT2):c.281G>T (p.Arg94Leu) rs397516457
NM_001001430.2(TNNT2):c.318C>T (p.Ile106=) rs3729547
NM_001001430.2(TNNT2):c.388C>T (p.Arg130Cys) rs397516463
NM_001001430.2(TNNT2):c.391C>T (p.Arg131Trp) rs74315380
NM_001001430.2(TNNT2):c.444G>C (p.Arg148=) rs35914325
NM_001001430.2(TNNT2):c.536C>T (p.Ser179Phe) rs727504246
NM_001001430.2(TNNT2):c.613C>T (p.Arg205Trp) rs45586240
NM_001001430.2(TNNT2):c.662T>C (p.Ile221Thr) rs45520032
NM_001001430.2(TNNT2):c.745G>A (p.Asp249Asn) rs141805127
NM_001001430.2(TNNT2):c.758A>G (p.Lys253Arg) rs3730238
NM_001001430.2(TNNT2):c.822-2A>C rs111692981
NM_001001430.2(TNNT2):c.84G>A (p.Ala28=) rs200283086
NM_001001430.2(TNNT2):c.857G>A (p.Arg286His) rs141121678
NM_001001430.2(TNNT2):c.861G>A (p.Trp287Ter) rs730881116
NM_001005242.2(PKP2):c.156G>A (p.Lys52=) rs201210997
NM_001005242.2(PKP2):c.1930T>C (p.Ser644Pro) rs144601090
NM_001005242.2(PKP2):c.2018C>T (p.Pro673Leu) rs144018320
NM_001018005.1(TPM1):c.180C>T (p.Tyr60=) rs17850194
NM_001018005.1(TPM1):c.188C>T (p.Ala63Val) rs199476306
NM_001018005.1(TPM1):c.27G>A (p.Gln9=) rs397516365
NM_001018005.1(TPM1):c.284T>C (p.Val95Ala) rs104894504
NM_001018005.1(TPM1):c.453C>A (p.Ala151=) rs1071646
NM_001018005.1(TPM1):c.486T>C (p.Tyr162=) rs11558747
NM_001018005.1(TPM1):c.62G>T (p.Arg21Leu) rs730881151
NM_001018005.1(TPM1):c.644C>T (p.Ser215Leu) rs199476316
NM_001018005.1(TPM1):c.64G>A (p.Ala22Thr) rs397516382
NM_001018005.1(TPM1):c.842T>C (p.Met281Thr) rs199476321
NM_001024847.2(TGFBR2):c.1732T>A (p.Ser578Thr) rs112215250
NM_001035.2(RYR2):c.10017C>T (p.His3339=) rs376439588
NM_001035.2(RYR2):c.10035G>A (p.Arg3345=) rs754976419
NM_001035.2(RYR2):c.10231-4T>C rs117180147
NM_001035.2(RYR2):c.10254C>T (p.Asn3418=) rs138073811
NM_001035.2(RYR2):c.10324-4A>G rs72751287
NM_001035.2(RYR2):c.10381A>G (p.Met3461Val) rs147512481
NM_001035.2(RYR2):c.10503C>T (p.Thr3501=) rs2797441
NM_001035.2(RYR2):c.1053A>G (p.Thr351=) rs187565743
NM_001035.2(RYR2):c.1069G>A (p.Gly357Ser) rs1401116572
NM_001035.2(RYR2):c.10776C>T (p.Ser3592=) rs2685301
NM_001035.2(RYR2):c.10941T>G (p.Pro3647=) rs370332882
NM_001035.2(RYR2):c.1134C>T (p.Asp378=) rs193922621
NM_001035.2(RYR2):c.1143C>T (p.Ser381=) rs368844286
NM_001035.2(RYR2):c.11766G>A (p.Glu3922=) rs774625105
NM_001035.2(RYR2):c.11835C>T (p.Val3945=) rs78939657
NM_001035.2(RYR2):c.11988C>T (p.Gly3996=) rs56226196
NM_001035.2(RYR2):c.12159G>A (p.Glu4053=) rs41267517
NM_001035.2(RYR2):c.1218G>A (p.Ser406=) rs147389346
NM_001035.2(RYR2):c.12492G>A (p.Gln4164=) rs377293019
NM_001035.2(RYR2):c.1259G>A (p.Arg420Gln) rs794728721
NM_001035.2(RYR2):c.12648G>A (p.Ala4216=) rs781557399
NM_001035.2(RYR2):c.12705C>T (p.Phe4235=) rs373606009
NM_001035.2(RYR2):c.12919C>T (p.Arg4307Cys) rs200092869
NM_001035.2(RYR2):c.1296C>A (p.Gly432=) rs184176405
NM_001035.2(RYR2):c.1298T>C (p.Leu433Pro) rs121918602
NM_001035.2(RYR2):c.13326C>T (p.Ala4442=) rs768161152
NM_001035.2(RYR2):c.13489C>T (p.Arg4497Cys) rs121918600
NM_001035.2(RYR2):c.1359C>T (p.Ser453=) rs3765097
NM_001035.2(RYR2):c.13656T>C (p.His4552=) rs397516512
NM_001035.2(RYR2):c.13672C>T (p.His4558Tyr) rs773264033
NM_001035.2(RYR2):c.13740G>A (p.Thr4580=) rs115854664
NM_001035.2(RYR2):c.13977G>A (p.Glu4659=) rs78369334
NM_001035.2(RYR2):c.13983C>T (p.Tyr4661=) rs138498780
NM_001035.2(RYR2):c.14251A>C (p.Lys4751Gln) rs794728802
NM_001035.2(RYR2):c.14421C>T (p.Asp4807=) rs75206601
NM_001035.2(RYR2):c.14481C>T (p.Ile4827=) rs114303476
NM_001035.2(RYR2):c.14484G>T (p.Gly4828=) rs370996795
NM_001035.2(RYR2):c.14703G>C (p.Val4901=) rs201371633
NM_001035.2(RYR2):c.14711G>A (p.Gly4904Asp) rs886038888
NM_001035.2(RYR2):c.1519G>A (p.Val507Ile) rs16835270
NM_001035.2(RYR2):c.1527C>T (p.Ser509=) rs886042568
NM_001035.2(RYR2):c.1548T>C (p.Asp516=) rs146129084
NM_001035.2(RYR2):c.1611G>A (p.Leu537=) rs78281932
NM_001035.2(RYR2):c.1614G>A (p.Ala538=) rs566885717
NM_001035.2(RYR2):c.1776A>T (p.Gly592=) rs72549414
NM_001035.2(RYR2):c.1863C>T (p.His621=) rs17686573
NM_001035.2(RYR2):c.2046A>G (p.Thr682=) rs116098815
NM_001035.2(RYR2):c.2267G>A (p.Ser756Asn) rs193922623
NM_001035.2(RYR2):c.2301G>T (p.Ser767=) rs117588730
NM_001035.2(RYR2):c.2574G>A (p.Thr858=) rs367992907
NM_001035.2(RYR2):c.2711A>G (p.Tyr904Cys) rs201131315
NM_001035.2(RYR2):c.2760G>A (p.Glu920=) rs186181155
NM_001035.2(RYR2):c.2772G>A (p.Leu924=) rs780664060
NM_001035.2(RYR2):c.2935G>T (p.Ala979Ser) rs202015519
NM_001035.2(RYR2):c.2973A>G (p.Ser991=) rs2253273
NM_001035.2(RYR2):c.3030T>C (p.Asp1010=) rs138064129
NM_001035.2(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924
NM_001035.2(RYR2):c.3054T>C (p.Tyr1018=) rs113422365
NM_001035.2(RYR2):c.3153C>T (p.Arg1051=) rs397516524
NM_001035.2(RYR2):c.3251G>A (p.Arg1084Lys) rs193922624
NM_001035.2(RYR2):c.3320C>T (p.Thr1107Met) rs200236750
NM_001035.2(RYR2):c.3372G>A (p.Pro1124=) rs368017980
NM_001035.2(RYR2):c.3407C>T (p.Ala1136Val) rs72549415
NM_001035.2(RYR2):c.365G>A (p.Arg122His) rs727503396
NM_001035.2(RYR2):c.3720C>T (p.Ala1240=) rs750335699
NM_001035.2(RYR2):c.3888C>T (p.Asn1296=) rs373721253
NM_001035.2(RYR2):c.4044G>A (p.Lys1348=) rs755391572
NM_001035.2(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512
NM_001035.2(RYR2):c.4347T>C (p.Asp1449=) rs368930040
NM_001035.2(RYR2):c.4605G>A (p.Pro1535=) rs201916326
NM_001035.2(RYR2):c.4652A>G (p.Asn1551Ser) rs185237690
NM_001035.2(RYR2):c.4684-5G>C rs7522981
NM_001035.2(RYR2):c.4695T>C (p.Pro1565=) rs368826662
NM_001035.2(RYR2):c.4734C>T (p.Pro1578=) rs201880756
NM_001035.2(RYR2):c.4740G>A (p.Pro1580=) rs79811945
NM_001035.2(RYR2):c.5001T>C (p.Leu1667=) rs397516537
NM_001035.2(RYR2):c.506G>A (p.Arg169Gln) rs397516539
NM_001035.2(RYR2):c.5136C>T (p.Ser1712=) rs397516540
NM_001035.2(RYR2):c.5400A>G (p.Lys1800=) rs3820216
NM_001035.2(RYR2):c.5571G>A (p.Pro1857=) rs371934582
NM_001035.2(RYR2):c.5586C>T (p.Asp1862=) rs193922628
NM_001035.2(RYR2):c.5619A>G (p.Ala1873=) rs373282364
NM_001035.2(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858
NM_001035.2(RYR2):c.5656G>A (p.Gly1886Ser) rs3766871
NM_001035.2(RYR2):c.6337G>A (p.Val2113Met) rs186906598
NM_001035.2(RYR2):c.649A>G (p.Ile217Val) rs200642525
NM_001035.2(RYR2):c.6906T>C (p.Leu2302=) rs707189
NM_001035.2(RYR2):c.6928+4G>A rs79862521
NM_001035.2(RYR2):c.7161G>A (p.Ala2387=) rs371560909
NM_001035.2(RYR2):c.7233C>T (p.Ala2411=) rs367994477
NM_001035.2(RYR2):c.726C>T (p.Asp242=) rs76380341
NM_001035.2(RYR2):c.7365C>T (p.Asp2455=) rs72549416
NM_001035.2(RYR2):c.7443A>G (p.Gln2481=) rs759314800
NM_001035.2(RYR2):c.7542G>A (p.Leu2514=) rs371088367
NM_001035.2(RYR2):c.7619A>G (p.His2540Arg) rs200105499
NM_001035.2(RYR2):c.7806C>T (p.His2602=) rs684923
NM_001035.2(RYR2):c.7925G>A (p.Arg2642Lys) rs377473366
NM_001035.2(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897
NM_001035.2(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134
NM_001035.2(RYR2):c.828A>G (p.Arg276=) rs180711819
NM_001035.2(RYR2):c.8367T>C (p.Ile2789=) rs563219502
NM_001035.2(RYR2):c.8448C>T (p.Asp2816=) rs144876996
NM_001035.2(RYR2):c.8873A>G (p.Gln2958Arg) rs34967813
NM_001035.2(RYR2):c.9318T>G (p.Ser3106=) rs2797436
NM_001035.2(RYR2):c.9450-3T>C rs188671846
NM_001035.2(RYR2):c.9519T>C (p.Thr3173=) rs371931287
NM_001035.2(RYR2):c.9560A>G (p.Lys3187Arg) rs184218219
NM_001035.2(RYR2):c.9619A>G (p.Asn3207Asp) rs372601642
NM_001035.2(RYR2):c.9666C>T (p.Ala3222=) rs116442127
NM_001035.2(RYR2):c.9672C>T (p.Ser3224=) rs370740528
NM_001037.4(SCN1B):c.253C>T (p.Arg85Cys) rs786205830
NM_001037.4(SCN1B):c.267C>T (p.Arg89=) rs140949982
NM_001037.4(SCN1B):c.28G>A (p.Gly10Ser) rs72552027
NM_001037.4(SCN1B):c.351C>T (p.Gly117=) rs3746255
NM_001037.4(SCN1B):c.412G>A (p.Val138Ile) rs72558029
NM_001037.4(SCN1B):c.457G>A (p.Asp153Asn) rs72550247
NM_001037.4(SCN1B):c.501T>C (p.Ile167=) rs16969930
NM_001037.4(SCN1B):c.632G>A (p.Cys211Tyr) rs150721582
NM_001040113.1(MYH11):c.2026C>T (p.Arg676Cys) rs111404182
NM_001040113.1(MYH11):c.2070C>T (p.His690=) rs150924100
NM_001040113.1(MYH11):c.2914G>T (p.Ala972Ser) rs113696032
NM_001040113.1(MYH11):c.3123T>C (p.Ser1041=) rs181744522
NM_001040113.1(MYH11):c.3672+5_3672+11delTGCTTTTinsG rs371843272
NM_001040113.1(MYH11):c.3721G>A (p.Ala1241Thr) rs16967494
NM_001040113.1(MYH11):c.3988C>T (p.Leu1330=) rs12907
NM_001040113.1(MYH11):c.4218G>A (p.Lys1406=) rs113302393
NM_001040113.1(MYH11):c.429G>A (p.Lys143=) rs200672270
NM_001040113.1(MYH11):c.4422C>T (p.Tyr1474=) rs8046180
NM_001040113.1(MYH11):c.4625G>A (p.Arg1542Gln) rs137934837
NM_001040113.1(MYH11):c.5317-4C>T rs183176702
NM_001040113.1(MYH11):c.5357C>T (p.Thr1786Met) rs201960644
NM_001040114.1(MYH11):c.3254T>C (p.Ile1085Thr) rs193922629
NM_001040114.1(MYH11):c.3787_3789delAAG (p.Lys1263del) rs730880147
NM_001040114.1(MYH11):c.4694C>T (p.Thr1565Met) rs111854563
NM_001077653.2(TBX20):c.1017A>C (p.Thr339=) rs112054378
NM_001079802.1(FKTN):c.1026C>A (p.Leu342=) rs17309806
NM_001079802.1(FKTN):c.1336A>G (p.Asn446Asp) rs41313301
NM_001079802.1(FKTN):c.166C>T (p.Arg56Cys) rs41277797
NM_001079802.1(FKTN):c.167G>A (p.Arg56His) rs146951171
NM_001079802.1(FKTN):c.373G>A (p.Gly125Ser) rs34006675
NM_001079802.1(FKTN):c.608G>A (p.Arg203Gln) rs34787999
NM_001079802.1(FKTN):c.668C>T (p.Thr223Ile) rs116105846
NM_001079802.1(FKTN):c.681G>A (p.Leu227=) rs142604625
NM_001080114.1(LDB3):c.1130G>A (p.Arg377His) rs146265188
NM_001080114.1(LDB3):c.1205A>C (p.Gln402Pro) rs138951890
NM_001080114.1(LDB3):c.504T>C (p.Asp168=) rs76615432
NM_001080114.1(LDB3):c.546T>C (p.Ser182=) rs71473272
NM_001080114.1(LDB3):c.781G>A (p.Ala261Thr) rs45539535
NM_001080116.1(LDB3):c.*26800C>T rs45578640
NM_001080116.1(LDB3):c.163G>A (p.Val55Ile) rs3740343
NM_001080116.1(LDB3):c.302C>T (p.Pro101Leu) rs45592139
NM_001080116.1(LDB3):c.321+1335G>A rs149872184
NM_001080116.1(LDB3):c.321+1523C>T rs45487699
NM_001080116.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338
NM_001080116.1(LDB3):c.611A>G (p.Lys204Arg) rs34423165
NM_001080116.1(LDB3):c.802C>T (p.Arg268Cys) rs121908335
NM_001098512.2(PRKG1):c.1421A>T (p.Tyr474Phe) rs149710600
NM_001099404.1(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230
NM_001103.3(ACTN2):c.1235C>T (p.Thr412Met) rs139515659
NM_001103.3(ACTN2):c.1296G>A (p.Ala432=) rs35956798
NM_001103.3(ACTN2):c.1298C>T (p.Ser433Leu) rs143749154
NM_001103.3(ACTN2):c.1323G>A (p.Leu441=) rs886039127
NM_001103.3(ACTN2):c.1341C>T (p.Phe447=) rs34785693
NM_001103.3(ACTN2):c.1383C>T (p.Ile461=) rs34827377
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.1704G>A (p.Ala568=) rs369560444
NM_001103.3(ACTN2):c.1748A>G (p.Glu583Gly) rs200631005
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.1983C>T (p.Ala661=) rs372137571
NM_001103.3(ACTN2):c.2076C>T (p.Ile692=) rs144122893
NM_001103.3(ACTN2):c.2139G>A (p.Thr713Thr=) rs34975493
NM_001103.3(ACTN2):c.2147C>T (p.Thr716Met) rs193922635
NM_001103.3(ACTN2):c.2161C>A (p.Arg721Ser) rs149433837
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.26A>G (p.Gln9Arg) rs121434525
NM_001103.3(ACTN2):c.441G>A (p.Ser147=) rs150182164
NM_001103.3(ACTN2):c.683T>C (p.Met228Thr) rs786205144
NM_001103.3(ACTN2):c.705G>C (p.Val235=) rs2288599
NM_001103.3(ACTN2):c.893G>A (p.Arg298His) rs142482143
NM_001103.3(ACTN2):c.947T>C (p.Met316Thr) rs370757762
NM_001105206.2(LAMA4):c.1962G>A (p.Ala654=) rs140246538
NM_001105206.2(LAMA4):c.2569G>A (p.Ala857Thr) rs144123257
NM_001105206.2(LAMA4):c.264C>T (p.Ser88=) rs201152817
NM_001110556.1(FLNA):c.1176G>A (p.Glu392=) rs201173693
NM_001110556.1(FLNA):c.1286C>T (p.Thr429Met) rs36051194
NM_001110556.1(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204
NM_001110556.1(FLNA):c.3690C>T (p.Thr1230=) rs35015603
NM_001110556.1(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110556.1(FLNA):c.4866C>T (p.Tyr1622=) rs200835571
NM_001110556.1(FLNA):c.4920G>A (p.Gly1640=) rs61741041
NM_001110556.1(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893
NM_001110556.1(FLNA):c.543G>A (p.Pro181=) rs201486643
NM_001110556.1(FLNA):c.5850T>C (p.Ala1950=) rs2070825
NM_001110556.1(FLNA):c.663C>T (p.Pro221=) rs2073470
NM_001110556.1(FLNA):c.6742C>T (p.Leu2248=) rs113510895
NM_001127493.1(ANK2):c.3483A>G (p.Val1161=) rs35336373
NM_001134363.1(RBM20):c.2303G>C (p.Ser768=) rs1417635
NM_001134363.1(RBM20):c.3265C>A (p.Pro1089Thr) rs147356378
NM_001134363.2(RBM20):c.1093G>A (p.Gly365Arg) rs201047984
NM_001134363.2(RBM20):c.1179C>T (p.Pro393=) rs200588338
NM_001134363.2(RBM20):c.1286T>C (p.Leu429Pro) rs61735272
NM_001134363.2(RBM20):c.128_130dupAGC (p.Gln43_Pro44insGln) rs397516593
NM_001134363.2(RBM20):c.1364C>T (p.Ser455Leu) rs189569984
NM_001134363.2(RBM20):c.150A>T (p.Pro50=) rs376936285
NM_001134363.2(RBM20):c.1881-3C>T rs138436392
NM_001134363.2(RBM20):c.1914G>A (p.Pro638=) rs74339620
NM_001134363.2(RBM20):c.1986G>A (p.Pro662=) rs537723089
NM_001134363.2(RBM20):c.1992C>T (p.Pro664=) rs41292592
NM_001134363.2(RBM20):c.2145C>T (p.Pro715=) rs764304126
NM_001134363.2(RBM20):c.2201G>A (p.Arg734Gln) rs372923744
NM_001134363.2(RBM20):c.2318A>G (p.Lys773Arg) rs181769913
NM_001134363.2(RBM20):c.3144C>T (p.Ser1048=) rs75858380
NM_001134363.2(RBM20):c.3170G>A (p.Arg1057Gln) rs188054898
NM_001134363.2(RBM20):c.3177A>G (p.Pro1059=) rs562290651
NM_001134363.2(RBM20):c.3261_3262delCCinsG (p.Ser1087Argfs) rs727504763
NM_001134363.2(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378
NM_001134363.2(RBM20):c.3331G>A (p.Val1111Met) rs77110978
NM_001134363.2(RBM20):c.3331G>T (p.Val1111Leu) rs77110978
NM_001134363.2(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219
NM_001134363.2(RBM20):c.3545G>A (p.Arg1182His) rs563762318
NM_001134363.2(RBM20):c.3648C>T (p.Ser1216=) rs554167951
NM_001134363.2(RBM20):c.3667G>C (p.Glu1223Gln) rs942077
NM_001134363.2(RBM20):c.448G>A (p.Ala150Thr) rs199868951
NM_001134363.2(RBM20):c.517C>A (p.Pro173Thr) rs7908490
NM_001134363.2(RBM20):c.530C>T (p.Thr177Ile) rs183130427
NM_001134363.2(RBM20):c.680G>T (p.Gly227Val) rs202238753
NM_001134363.2(RBM20):c.695G>A (p.Gly232Asp) rs61735268
NM_001134363.2(RBM20):c.90G>A (p.Arg30=) rs35141404
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621
NM_001135599.3(TGFB2):c.-5A>T rs200702935
NM_001135599.3(TGFB2):c.114G>A (p.Glu38=) rs149215818
NM_001135599.3(TGFB2):c.272G>A (p.Arg91His) rs10482721
NM_001135599.3(TGFB2):c.440C>T (p.Pro147Leu) rs149533093
NM_001135599.3(TGFB2):c.441G>A (p.Pro147=) rs138514914
NM_001135599.3(TGFB2):c.703G>C (p.Val235Leu) rs10482810
NM_001143979.1(NDE1):c.948-5807C>G rs144421849
NM_001143979.1(NDE1):c.948-6917G>A rs35295469
NM_001143979.1(NDE1):c.948-6986C>T rs1050162
NM_001143979.1(NDE1):c.948-7025C>T rs1050163
NM_001148.4(ANK2):c.10371G>A (p.Thr3457=) rs142908806
NM_001148.4(ANK2):c.10395G>A (p.Glu3465=) rs147423696
NM_001148.4(ANK2):c.10531C>T (p.Leu3511=) rs148462839
NM_001148.4(ANK2):c.10707C>T (p.Ile3569=) rs539298479
NM_001148.4(ANK2):c.10861C>G (p.Leu3621Val) rs45570339
NM_001148.4(ANK2):c.10901T>A (p.Val3634Asp) rs66785829
NM_001148.4(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544
NM_001148.4(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705
NM_001148.4(ANK2):c.11465G>C (p.Gly3822Ala) rs79577190
NM_001148.4(ANK2):c.11538C>T (p.Leu3846=) rs45602336
NM_001148.4(ANK2):c.11594A>G (p.Asp3865Gly) rs140606121
NM_001148.4(ANK2):c.11673T>C (p.His3891=) rs2293324
NM_001148.4(ANK2):c.11716C>T (p.Arg3906Trp) rs121912706
NM_001148.4(ANK2):c.11718G>A (p.Arg3906=) rs35724152
NM_001148.4(ANK2):c.1177G>A (p.Ala393Thr) rs147458476
NM_001148.4(ANK2):c.11790C>T (p.Ile3930=) rs45517840
NM_001148.4(ANK2):c.11791G>A (p.Glu3931Lys) rs45454496
NM_001148.4(ANK2):c.1245A>G (p.Glu415=) rs34145832
NM_001148.4(ANK2):c.1401A>G (p.Ala467=) rs142159132
NM_001148.4(ANK2):c.1899A>G (p.Leu633=) rs377608305
NM_001148.4(ANK2):c.1995A>G (p.Pro665=) rs45442693
NM_001148.4(ANK2):c.2127T>C (p.Asn709=) rs113454484
NM_001148.4(ANK2):c.2249A>G (p.Gln750Arg) rs371787039
NM_001148.4(ANK2):c.2337C>T (p.Val779=) rs29341
NM_001148.4(ANK2):c.2472_2474delCAC (p.Thr826del) rs770530257
NM_001148.4(ANK2):c.2592T>C (p.Pro864=) rs138641014
NM_001148.4(ANK2):c.261G>A (p.Gly87=) rs145502481
NM_001148.4(ANK2):c.2712C>T (p.Ser904=) rs149310669
NM_001148.4(ANK2):c.2727T>A (p.Thr909=) rs144548535
NM_001148.4(ANK2):c.2970A>C (p.Arg990=) rs35956627
NM_001148.4(ANK2):c.3136C>T (p.Leu1046=) rs149840991
NM_001148.4(ANK2):c.3255G>A (p.Ala1085=) rs56173868
NM_001148.4(ANK2):c.3255G>T (p.Ala1085=) rs56173868
NM_001148.4(ANK2):c.3543C>T (p.Ala1181=) rs76685232
NM_001148.4(ANK2):c.3579C>T (p.Arg1193=) rs3736575
NM_001148.4(ANK2):c.4152T>C (p.Asp1384=) rs116128106
NM_001148.4(ANK2):c.4315G>T (p.Gly1439Cys) rs34591340
NM_001148.4(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141
NM_001148.4(ANK2):c.4744C>T (p.Arg1582Trp) rs35249198
NM_001148.4(ANK2):c.4745G>A (p.Arg1582Gln) rs138842207
NM_001148.4(ANK2):c.4782T>G (p.Ile1594Met) rs775386505
NM_001148.4(ANK2):c.5240C>G (p.Pro1747Arg) rs200628845
NM_001148.4(ANK2):c.5313G>A (p.Lys1771=) rs140992864
NM_001148.4(ANK2):c.5469C>T (p.Pro1823=) rs33966911
NM_001148.4(ANK2):c.5715G>A (p.Ser1905=) rs143404578
NM_001148.4(ANK2):c.5985G>A (p.Lys1995=) rs116652427
NM_001148.4(ANK2):c.615C>T (p.Thr205=) rs587780852
NM_001148.4(ANK2):c.6168C>G (p.Leu2056=) rs3796928
NM_001148.4(ANK2):c.6176C>T (p.Thr2059Met) rs200765866
NM_001148.4(ANK2):c.6206G>A (p.Arg2069His) rs149645600
NM_001148.4(ANK2):c.6648C>G (p.Gly2216=) rs140926982
NM_001148.4(ANK2):c.669+3A>G rs370475820
NM_001148.4(ANK2):c.6906C>T (p.Thr2302=) rs139910215
NM_001148.4(ANK2):c.7059A>G (p.Gln2353=) rs145782226
NM_001148.4(ANK2):c.7106T>C (p.Val2369Ala) rs28377576
NM_001148.4(ANK2):c.7110A>G (p.Gln2370=) rs3733615
NM_001148.4(ANK2):c.7117A>G (p.Thr2373Ala) rs184514058
NM_001148.4(ANK2):c.7132G>A (p.Glu2378Lys) rs141191319
NM_001148.4(ANK2):c.7267G>A (p.Ala2423Thr) rs3733616
NM_001148.4(ANK2):c.7831T>C (p.Tyr2611His) rs35338364
NM_001148.4(ANK2):c.7902G>A (p.Val2634=) rs150878494
NM_001148.4(ANK2):c.8286A>G (p.Leu2762=) rs751252941
NM_001148.4(ANK2):c.8354C>T (p.Ser2785Leu) rs145895389
NM_001148.4(ANK2):c.8503C>T (p.Pro2835Ser) rs3733617
NM_001148.4(ANK2):c.8658A>G (p.Leu2886=) rs149433267
NM_001148.4(ANK2):c.8843C>G (p.Ala2948Gly) rs138438183
NM_001148.4(ANK2):c.9061G>A (p.Ala3021Thr) rs74348333
NM_001148.4(ANK2):c.9279C>G (p.Thr3093=) rs148851013
NM_001148.4(ANK2):c.9286A>G (p.Ser3096Gly) rs144158934
NM_001148.4(ANK2):c.9454A>G (p.Thr3152Ala) rs61741040
NM_001148.4(ANK2):c.9526G>T (p.Asp3176Tyr) rs138928206
NM_001148.4(ANK2):c.9598C>T (p.Leu3200Phe) rs750774547
NM_001148.4(ANK2):c.962G>A (p.Arg321Gln) rs150226540
NM_001148.4(ANK2):c.9648A>G (p.Glu3216=) rs10013743
NM_001148.4(ANK2):c.9854T>C (p.Ile3285Thr) rs36210417
NM_001148.4(ANK2):c.9900C>A (p.Ser3300Arg) rs34270799
NM_001148.4(ANK2):c.997C>T (p.Leu333=) rs201024064
NM_001148.4(ANK2):c.9996T>C (p.Ser3332=) rs145557320
NM_001148.5(ANK2):c.10118C>T (p.Ala3373Val) rs371358639
NM_001148.5(ANK2):c.8387C>T (p.Pro2796Leu) rs182956726
NM_001148.5(ANK2):c.9923C>G (p.Thr3308Ser) rs145145511
NM_001148.6(ANK2):c.4310C>T (p.Thr1437Met) rs142534126
NM_001232.3(CASQ2):c.1005T>C (p.Asn335=) rs28730712
NM_001232.3(CASQ2):c.1131A>T (p.Glu377Asp) rs148824162
NM_001232.3(CASQ2):c.1185C>T (p.Asp395=) rs7413162
NM_001232.3(CASQ2):c.1185_1187delCGA (p.Asp398del) rs397516641
NM_001232.3(CASQ2):c.1194T>C (p.Asp398=) rs28730711
NM_001232.3(CASQ2):c.226G>A (p.Val76Met) rs10801999
NM_001232.3(CASQ2):c.567C>G (p.Phe189Leu) rs146664754
NM_001232.3(CASQ2):c.730C>T (p.His244Tyr) rs142036299
NM_001232.3(CASQ2):c.731A>G (p.His244Arg) rs28730716
NM_001232.3(CASQ2):c.861C>A (p.Ile287=) rs143718767
NM_001232.3(CASQ2):c.923C>T (p.Pro308Leu) rs139228801
NM_001232.3(CASQ2):c.928G>A (p.Asp310Asn) rs141314684
NM_001256267.1(MYPN):c.3124C>T (p.Arg1042Cys) rs151282801
NM_001256850.1(TTN):c.100204C>T (p.Arg33402Cys) rs200378865
NM_001256850.1(TTN):c.101655T>A (p.Ser33885=) rs55838839
NM_001256850.1(TTN):c.102032G>A (p.Arg34011Gln) rs200497615
NM_001256850.1(TTN):c.102777A>G (p.Glu34259=) rs55832587
NM_001256850.1(TTN):c.10387G>A (p.Glu3463Lys) rs727504586
NM_001256850.1(TTN):c.10489G>A (p.Glu3497Lys) rs375103237
NM_001256850.1(TTN):c.10663G>A (p.Gly3555Ser) rs754936734
NM_001256850.1(TTN):c.10768C>G (p.Leu3590Val) rs55853696
NM_001256850.1(TTN):c.10837G>A (p.Glu3613Lys) rs186624523
NM_001256850.1(TTN):c.1137A>G (p.Arg379=) rs55972547
NM_001256850.1(TTN):c.11454delT (p.Asn3818Lysfs) rs727503658
NM_001256850.1(TTN):c.11782A>C (p.Asn3928His) rs199652066
NM_001256850.1(TTN):c.12035G>A (p.Arg4012Lys) rs199560188
NM_001256850.1(TTN):c.12251G>A (p.Arg4084Gln) rs200431386
NM_001256850.1(TTN):c.12933C>T (p.Ser4311=) rs183328495
NM_001256850.1(TTN):c.1537-4G>A rs56006378
NM_001256850.1(TTN):c.17038G>A (p.Ala5680Thr) rs72648946
NM_001256850.1(TTN):c.17428T>G (p.Cys5810Gly) rs370812788
NM_001256850.1(TTN):c.17599G>A (p.Ala5867Thr) rs72648947
NM_001256850.1(TTN):c.22072G>T (p.Asp7358Tyr) rs552951988
NM_001256850.1(TTN):c.2280C>T (p.Val760=) rs727505021
NM_001256850.1(TTN):c.2686G>A (p.Val896Ile) rs376768790
NM_001256850.1(TTN):c.27596G>A (p.Arg9199His) rs374156904
NM_001256850.1(TTN):c.29534C>T (p.Thr9845Met) rs200593368
NM_001256850.1(TTN):c.31235C>T (p.Thr10412Met) rs115119858
NM_001256850.1(TTN):c.31642G>C (p.Val10548Leu) rs150733188
NM_001256850.1(TTN):c.31792G>C (p.Ala10598Pro) rs72650032
NM_001256850.1(TTN):c.32108A>G (p.Tyr10703Cys) rs72650035
NM_001256850.1(TTN):c.35228_35245del18 (p.Ile11743_Glu11748del) rs139512154
NM_001256850.1(TTN):c.35664A>G (p.Glu11888=) rs370597107
NM_001256850.1(TTN):c.36087T>C (p.Asp12029=) rs193191368
NM_001256850.1(TTN):c.36565G>A (p.Val12189Ile) rs149059189
NM_001256850.1(TTN):c.37008T>C (p.Tyr12336=) rs369128249
NM_001256850.1(TTN):c.39154C>T (p.Arg13052Cys) rs200445568
NM_001256850.1(TTN):c.39358C>T (p.Pro13120Ser) rs192766485
NM_001256850.1(TTN):c.39976C>T (p.Arg13326Ter) rs727505350
NM_001256850.1(TTN):c.40130C>T (p.Ala13377Val) rs72677221
NM_001256850.1(TTN):c.40350C>T (p.Asn13450=) rs72677223
NM_001256850.1(TTN):c.40393_40397dupAGCTC (p.Arg13467Alafs) rs794729390
NM_001256850.1(TTN):c.4199G>C (p.Ser1400Thr) rs138506461
NM_001256850.1(TTN):c.426C>T (p.Ala142=) rs56137037
NM_001256850.1(TTN):c.42844G>A (p.Gly14282Arg) rs371943746
NM_001256850.1(TTN):c.43075G>C (p.Asp14359His) rs201388509
NM_001256850.1(TTN):c.43092_43093delAG (p.Asp14366Profs) rs794729319
NM_001256850.1(TTN):c.43360C>T (p.Arg14454Ter) rs374140736
NM_001256850.1(TTN):c.43539G>A (p.Thr14513=) rs202141158
NM_001256850.1(TTN):c.4359A>T (p.Arg1453Ser) rs376857956
NM_001256850.1(TTN):c.45075T>C (p.Asn15025=) rs376917681
NM_001256850.1(TTN):c.4671G>A (p.Met1557Ile) rs139192633
NM_001256850.1(TTN):c.46859G>A (p.Arg15620Gln) rs201825412
NM_001256850.1(TTN):c.46886G>T (p.Ser15629Ile) rs200650668
NM_001256850.1(TTN):c.47187G>A (p.Pro15729=) rs139789997
NM_001256850.1(TTN):c.49189delG (p.Glu16397Argfs) rs794729325
NM_001256850.1(TTN):c.49225C>T (p.Arg16409Cys) rs55734111
NM_001256850.1(TTN):c.49284A>G (p.Pro16428=) rs372686070
NM_001256850.1(TTN):c.50886G>A (p.Pro16962=) rs750472100
NM_001256850.1(TTN):c.52047T>C (p.Pro17349=) rs372019333
NM_001256850.1(TTN):c.52539G>A (p.Gln17513=) rs72646832
NM_001256850.1(TTN):c.52760G>A (p.Arg17587His) rs114711705
NM_001256850.1(TTN):c.53689A>G (p.Thr17897Ala) rs200017524
NM_001256850.1(TTN):c.54359A>G (p.Asn18120Ser) rs563969986
NM_001256850.1(TTN):c.54392C>T (p.Pro18131Leu) rs72646840
NM_001256850.1(TTN):c.54393G>A (p.Pro18131=) rs377180286
NM_001256850.1(TTN):c.55898C>T (p.Pro18633Leu) rs72646845
NM_001256850.1(TTN):c.56215C>A (p.Leu18739Met) rs201167216
NM_001256850.1(TTN):c.5697C>T (p.Ile1899=) rs148434577
NM_001256850.1(TTN):c.57255T>C (p.Thr19085=) rs72646847
NM_001256850.1(TTN):c.57294T>A (p.Tyr19098Ter) rs727503586
NM_001256850.1(TTN):c.57509A>G (p.Asp19170Gly) rs72646849
NM_001256850.1(TTN):c.58516G>A (p.Ala19506Thr) rs72646853
NM_001256850.1(TTN):c.59797G>A (p.Ala19933Thr) rs578085621
NM_001256850.1(TTN):c.59839G>A (p.Gly19947Arg) rs181717727
NM_001256850.1(TTN):c.60611C>T (p.Pro20204Leu) rs201662134
NM_001256850.1(TTN):c.60681T>C (p.Ala20227=) rs200825430
NM_001256850.1(TTN):c.60806T>C (p.Ile20269Thr) rs146941600
NM_001256850.1(TTN):c.60824G>A (p.Arg20275Gln) rs148849567
NM_001256850.1(TTN):c.61667G>A (p.Arg20556Gln) rs374656017
NM_001256850.1(TTN):c.61769G>A (p.Arg20590His) rs200971254
NM_001256850.1(TTN):c.63535G>C (p.Ala21179Pro) rs72646880
NM_001256850.1(TTN):c.64207C>T (p.Pro21403Ser) rs55980498
NM_001256850.1(TTN):c.64460C>A (p.Ser21487Tyr) rs72646882
NM_001256850.1(TTN):c.64898G>A (p.Gly21633Asp) rs201043950
NM_001256850.1(TTN):c.65179A>G (p.Ile21727Val) rs367914610
NM_001256850.1(TTN):c.65327T>C (p.Ile21776Thr) rs201836227
NM_001256850.1(TTN):c.66029T>G (p.Ile22010Ser) rs149075285
NM_001256850.1(TTN):c.66685G>A (p.Gly22229Ser) rs727503564
NM_001256850.1(TTN):c.66980A>C (p.Asn22327Thr) rs769320596
NM_001256850.1(TTN):c.67664G>A (p.Arg22555His) rs200317412
NM_001256850.1(TTN):c.68413C>T (p.Leu22805=) rs189768015
NM_001256850.1(TTN):c.68902G>C (p.Glu22968Gln) rs55762754
NM_001256850.1(TTN):c.69673A>G (p.Thr23225Ala) rs199784966
NM_001256850.1(TTN):c.69972A>C (p.Gln23324His) rs201512527
NM_001256850.1(TTN):c.70518A>G (p.Lys23506=) rs56151652
NM_001256850.1(TTN):c.7061G>A (p.Arg2354His) rs75031300
NM_001256850.1(TTN):c.70815A>G (p.Glu23605=) rs371344165
NM_001256850.1(TTN):c.72120T>C (p.Tyr24040=) rs370810609
NM_001256850.1(TTN):c.72723_72739del17insAGA (p.Ile24242Aspfs) rs794729345
NM_001256850.1(TTN):c.73969G>A (p.Gly24657Arg) rs72648205
NM_001256850.1(TTN):c.74777A>G (p.Asn24926Ser) rs183844833
NM_001256850.1(TTN):c.74940G>A (p.Thr24980=) rs186402008
NM_001256850.1(TTN):c.7523A>G (p.His2508Arg) rs146970027
NM_001256850.1(TTN):c.75738C>T (p.Asn25246=) rs201069672
NM_001256850.1(TTN):c.76060G>A (p.Glu25354Lys) rs397517719
NM_001256850.1(TTN):c.76324T>C (p.Ser25442Pro) rs186273940
NM_001256850.1(TTN):c.76379G>T (p.Gly25460Val) rs201490050
NM_001256850.1(TTN):c.76635T>C (p.Asn25545=) rs56181243
NM_001256850.1(TTN):c.76976G>A (p.Arg25659His) rs55850344
NM_001256850.1(TTN):c.77180A>G (p.Asp25727Gly) rs145373396
NM_001256850.1(TTN):c.77566G>A (p.Gly25856Arg) rs201158906
NM_001256850.1(TTN):c.78593G>A (p.Arg26198Gln) rs376820301
NM_001256850.1(TTN):c.81378G>A (p.Lys27126=) rs56310931
NM_001256850.1(TTN):c.82688C>G (p.Thr27563Arg) rs72648228
NM_001256850.1(TTN):c.82700A>T (p.Tyr27567Phe) rs201831707
NM_001256850.1(TTN):c.83167G>A (p.Gly27723Ser) rs183013408
NM_001256850.1(TTN):c.83374G>A (p.Asp27792Asn) rs189202799
NM_001256850.1(TTN):c.83562C>T (p.Leu27854=) rs371612136
NM_001256850.1(TTN):c.835C>T (p.Arg279Trp) rs138060032
NM_001256850.1(TTN):c.84061G>A (p.Gly28021Ser) rs187460377
NM_001256850.1(TTN):c.8434G>C (p.Val2812Leu) rs146636599
NM_001256850.1(TTN):c.85409T>C (p.Leu28470Pro) rs368516973
NM_001256850.1(TTN):c.86068C>T (p.Pro28690Ser) rs75022916
NM_001256850.1(TTN):c.86720C>T (p.Ala28907Val) rs553668520
NM_001256850.1(TTN):c.87014A>G (p.Asn29005Ser) rs72648245
NM_001256850.1(TTN):c.87394C>T (p.Arg29132Ter) rs794729301
NM_001256850.1(TTN):c.87773T>C (p.Ile29258Thr) rs373727636
NM_001256850.1(TTN):c.87776A>G (p.Asn29259Ser) rs186234393
NM_001256850.1(TTN):c.88243C>T (p.Arg29415Ter) rs72648250
NM_001256850.1(TTN):c.90492C>A (p.Phe30164Leu) rs587780983
NM_001256850.1(TTN):c.9077A>T (p.Asn3026Ile) rs11900987
NM_001256850.1(TTN):c.91175G>A (p.Arg30392His) rs200648462
NM_001256850.1(TTN):c.9150A>G (p.Thr3050=) rs72647886
NM_001256850.1(TTN):c.92075G>A (p.Arg30692His) rs138846756
NM_001256850.1(TTN):c.92176C>T (p.Arg30726Cys) rs202064385
NM_001256850.1(TTN):c.93508C>T (p.Arg31170Cys) rs371807358
NM_001256850.1(TTN):c.94108T>A (p.Ser31370Thr) rs78814506
NM_001256850.1(TTN):c.95068T>C (p.Cys31690Arg) rs56061641
NM_001256850.1(TTN):c.96322G>A (p.Val32108Met) rs201554140
NM_001256850.1(TTN):c.97348C>T (p.Arg32450Trp) rs140319117
NM_001256850.1(TTN):c.97773C>T (p.Val32591=) rs202180775
NM_001256850.1(TTN):c.97828A>G (p.Met32610Val) rs56173891
NM_001256850.1(TTN):c.98369C>T (p.Thr32790Met) rs192001910
NM_001256850.1(TTN):c.98653G>C (p.Glu32885Gln) rs770742837
NM_001256850.1(TTN):c.98765T>C (p.Val32922Ala) rs55945684
NM_001256850.1(TTN):c.99442G>A (p.Glu33148Lys) rs190565627
NM_001256850.1(TTN):c.99846A>C (p.Thr33282=) rs56375087
NM_001267550.1(TTN):c.33513_33515dup (p.Glu11172_Tyr11173insGlu) rs368327166
NM_001267550.1(TTN):c.45599C>G rs201057307
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=) rs56026369
NM_001267550.2(TTN):c.10104T>G (p.Val3368=) rs142460433
NM_001267550.2(TTN):c.10115-4G>A rs367648529
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.10163G>A (p.Arg3388Gln) rs187703540
NM_001267550.2(TTN):c.10303+2T>C rs371596417
NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val) rs727505020
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=) rs55806007
NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln) rs530537991
NM_001267550.2(TTN):c.105787_105788delGCinsTT (p.Ala35263Phe) rs794729250
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=) rs6725673
NM_001267550.2(TTN):c.106638G>A (p.Arg35546=) rs56324602
NM_001267550.2(TTN):c.106920G>A (p.Leu35640=) rs183923129
NM_001267550.2(TTN):c.107961T>C (p.His35987=) rs377439315
NM_001267550.2(TTN):c.11370A>G (p.Gln3790=) rs72648918
NM_001267550.2(TTN):c.12195T>C (p.Leu4065=) rs201129413
NM_001267550.2(TTN):c.12870dupA (p.Val4291Serfs) rs869025556
NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser) rs72648922
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr) rs142414432
NM_001267550.2(TTN):c.14004C>T (p.Thr4668=) rs201200682
NM_001267550.2(TTN):c.19191G>A (p.Thr6397=) rs140495148
NM_001267550.2(TTN):c.23853C>A (p.Ala7951=) rs201766927
NM_001267550.2(TTN):c.2744G>A (p.Arg915His) rs376922544
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser) rs201738153
NM_001267550.2(TTN):c.4081A>C (p.Ile1361Leu) rs145308734
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter) rs727504198
NM_001267550.2(TTN):c.42219C>T (p.Phe14073=) rs150612172
NM_001267550.2(TTN):c.42978C>T (p.Tyr14326=) rs369959066
NM_001267550.2(TTN):c.43502C>G (p.Thr14501Ser) rs115825044
NM_001267550.2(TTN):c.43565A>G (p.His14522Arg) rs374085402
NM_001267550.2(TTN):c.44784T>C (p.Asp14928=) rs186105748
NM_001267550.2(TTN):c.46697-5A>G rs182706301
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=) rs76081119
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe) rs138576504
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=) rs74321406
NM_001267550.2(TTN):c.50385T>C (p.Gly16795=) rs374672630
NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu) rs75686037
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=) rs138240658
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=) rs190830121
NM_001267550.2(TTN):c.54947C>G (p.Thr18316Ser) rs758527900
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr) rs146608896
NM_001267550.2(TTN):c.57648C>T (p.Ile19216=) rs55956577
NM_001267550.2(TTN):c.59344+3G>A rs142095604
NM_001267550.2(TTN):c.59937G>A (p.Gly19979=) rs727505101
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=) rs202017608
NM_001267550.2(TTN):c.61029T>C (p.Phe20343=) rs6706088
NM_001267550.2(TTN):c.6162C>T (p.Ala2054=) rs143265948
NM_001267550.2(TTN):c.63165G>A (p.Pro21055=) rs72646852
NM_001267550.2(TTN):c.64338T>C (p.Ala21446=) rs371514555
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=) rs72646867
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) rs72646876
NM_001267550.2(TTN):c.67809G>A (p.Ala22603=) rs548223512
NM_001267550.2(TTN):c.67833C>T (p.Tyr22611=) rs375538420
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=) rs11904444
NM_001267550.2(TTN):c.69716-5C>G rs72646886
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) rs115658240
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=) rs72646890
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=) rs72646893
NM_001267550.2(TTN):c.72033A>G (p.Pro24011=) rs72646894
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=) rs56293906
NM_001267550.2(TTN):c.74763C>T (p.Ser24921=) rs371563258
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=) rs140350441
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=) rs55696153
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=) rs375398118
NM_001267550.2(TTN):c.77205G>A (p.Val25735=) rs55857909
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.81105C>A (p.Thr27035=) rs72648212
NM_001267550.2(TTN):c.81527G>T (p.Arg27176Leu) rs199726308
NM_001267550.2(TTN):c.82575G>A (p.Thr27525=) rs11896779
NM_001267550.2(TTN):c.82684T>C (p.Tyr27562His) rs376616067
NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala) rs188370772
NM_001267550.2(TTN):c.84893G>A (p.Arg28298Gln) rs187270666
NM_001267550.2(TTN):c.86025G>A (p.Pro28675=) rs369528150
NM_001267550.2(TTN):c.86732_86734delAAG (p.Glu28911del) rs727504797
NM_001267550.2(TTN):c.88708A>G (p.Ile29570Val) rs139506970
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val) rs200193877
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=) rs370479059
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=) rs200173934
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=) rs72648255
NM_001267550.2(TTN):c.95722T>C (p.Tyr31908His) rs199781261
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=) rs376810671
NM_001267550.2(TTN):c.98299_98300delAG (p.Arg32767Glyfs) rs397517776
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=) rs138968178
NM_001306210.1(TGFBR1):c.70_78delGCGGCGGCG rs11466445
NM_001456.3(FLNA):c.1029C>T (p.Ser343=) rs199853721
NM_001456.3(FLNA):c.1191C>T (p.Ile397=) rs200048692
NM_001456.3(FLNA):c.1239G>A (p.Thr413=) rs200278701
NM_001456.3(FLNA):c.1327C>T (p.Arg443Cys) rs782673341
NM_001456.3(FLNA):c.1439C>T (p.Pro480Leu) rs782168634
NM_001456.3(FLNA):c.1579C>T (p.Arg527Cys) rs202029322
NM_001456.3(FLNA):c.1582G>A (p.Val528Met) rs143873938
NM_001456.3(FLNA):c.1587G>A (p.Lys529=) rs782615607
NM_001456.3(FLNA):c.1621G>A (p.Glu541Lys) rs743546
NM_001456.3(FLNA):c.1812C>T (p.Asp604=) rs370735674
NM_001456.3(FLNA):c.1875C>T (p.Asp625=) rs200660642
NM_001456.3(FLNA):c.1900C>G (p.Arg634Gly) rs111516546
NM_001456.3(FLNA):c.1968C>T (p.Leu656=) rs73638274
NM_001456.3(FLNA):c.2103C>T (p.His701=) rs200227077
NM_001456.3(FLNA):c.237G>C (p.Ala79=) rs200626788
NM_001456.3(FLNA):c.2405-4G>A rs368187218
NM_001456.3(FLNA):c.2433C>T (p.Ala811=) rs35986650
NM_001456.3(FLNA):c.2449C>T (p.Pro817Ser) rs200053635
NM_001456.3(FLNA):c.2516C>T (p.Thr839Met) rs201603843
NM_001456.3(FLNA):c.2725G>A (p.Val909Ile) rs199911951
NM_001456.3(FLNA):c.2845G>A (p.Val949Ile) rs201656372
NM_001456.3(FLNA):c.3270C>T (p.Ile1090=) rs79391751
NM_001456.3(FLNA):c.3420C>T (p.Phe1140=) rs782219300
NM_001456.3(FLNA):c.3429C>G (p.Thr1143=) rs183899917
NM_001456.3(FLNA):c.3522C>T (p.Thr1174=) rs373625856
NM_001456.3(FLNA):c.3678C>T (p.Pro1226=) rs377579695
NM_001456.3(FLNA):c.3756G>A (p.Ala1252=) rs186619828
NM_001456.3(FLNA):c.3872C>T (p.Pro1291Leu) rs137853319
NM_001456.3(FLNA):c.3876C>T (p.His1292=) rs199917719
NM_001456.3(FLNA):c.3915G>A (p.Thr1305=) rs201488545
NM_001456.3(FLNA):c.3995A>G (p.Asp1332Gly) rs200615848
NM_001456.3(FLNA):c.4106C>T (p.Thr1369Ile) rs376774130
NM_001456.3(FLNA):c.4232C>T (p.Ser1411Leu) rs782426283
NM_001456.3(FLNA):c.4233G>A (p.Ser1411=) rs34439033
NM_001456.3(FLNA):c.4475-4C>T rs199652065
NM_001456.3(FLNA):c.4737G>C (p.Leu1579=) rs201904661
NM_001456.3(FLNA):c.5169G>A (p.Val1723=) rs201458268
NM_001456.3(FLNA):c.5227C>T (p.Pro1743Ser) rs56102764
NM_001456.3(FLNA):c.5289+4C>T rs377330443
NM_001456.3(FLNA):c.5565C>T (p.Val1855=) rs200787122
NM_001456.3(FLNA):c.5634C>T (p.Phe1878=) rs182894587
NM_001456.3(FLNA):c.5691G>A (p.Pro1897=) rs367674709
NM_001456.3(FLNA):c.5948C>T (p.Ser1983Leu) rs187029309
NM_001456.3(FLNA):c.6264C>T (p.Asp2088=) rs782376124
NM_001456.3(FLNA):c.62_64dupTCG (p.Val21_Asp22insVal) rs782721874
NM_001456.3(FLNA):c.6326A>G (p.Asn2109Ser) rs375205247
NM_001456.3(FLNA):c.6388G>T (p.Gly2130Cys) rs200524526
NM_001456.3(FLNA):c.6618G>C (p.Val2206=) rs1064822
NM_001456.3(FLNA):c.7043G>A (p.Ser2348Asn) rs782739586
NM_001456.3(FLNA):c.7198G>A (p.Gly2400Ser) rs201168500
NM_001456.3(FLNA):c.7200C>T (p.Gly2400=) rs12008807
NM_001456.3(FLNA):c.7243C>T (p.Pro2415Ser) rs200198847
NM_001456.3(FLNA):c.732C>T (p.Pro244=) rs371092631
NM_001456.3(FLNA):c.7338G>A (p.Thr2446=) rs369179210
NM_001456.3(FLNA):c.7426C>T (p.Arg2476Cys) rs782557713
NM_001456.3(FLNA):c.7482C>T (p.Gly2494=) rs200195310
NM_001456.3(FLNA):c.942A>G (p.Gly314=) rs200763980
NM_001613.2(ACTA2):c.116G>A (p.Arg39His) rs794728021
NM_001613.2(ACTA2):c.417G>A (p.Gln139=) rs111265233
NM_001613.2(ACTA2):c.420G>A (p.Ala140=) rs762567614
NM_001613.2(ACTA2):c.593G>A (p.Arg198His) rs746972765
NM_001613.2(ACTA2):c.772C>T (p.Arg258Cys) rs121434528
NM_001613.2(ACTA2):c.936C>T (p.Ala312=) rs200213764
NM_001885.2(CRYAB):c.116C>T (p.Pro39Leu) rs149787233
NM_001885.2(CRYAB):c.152C>T (p.Pro51Leu) rs2234704
NM_001885.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929
NM_001927.3(DES):c.1026C>T (p.Asn342=) rs61731508
NM_001927.3(DES):c.1353C>T (p.Ile451=) rs121913002
NM_001927.3(DES):c.1371+1G>A rs748323823
NM_001927.3(DES):c.1375G>A (p.Val459Ile) rs73991549
NM_001927.3(DES):c.243C>T (p.Ser81=) rs201594392
NM_001927.3(DES):c.324G>A (p.Glu108=) rs138677215
NM_001927.3(DES):c.372G>A (p.Glu124=) rs34365369
NM_001927.3(DES):c.408C>T (p.Leu136=) rs111828114
NM_001927.3(DES):c.638C>T (p.Ala213Val) rs41272699
NM_001927.3(DES):c.708C>T (p.Ile236=) rs886044078
NM_001927.3(DES):c.792C>T (p.Asp264=) rs150370918
NM_001927.3(DES):c.935A>C (p.Asp312Ala) rs148947510
NM_001943.3(DSG2):c.1643G>A (p.Arg548His) rs551034751
NM_001943.3(DSG2):c.2434G>A (p.Gly812Ser) rs121913010
NM_001943.3(DSG2):c.437G>T (p.Arg146Leu) rs113451409
NM_001943.3(DSG2):c.523+2T>C rs397516709
NM_001943.3(DSG2):c.545A>G (p.Asn182Ser) rs368512832
NM_001943.3(DSG2):c.716T>C (p.Val239Ala) rs200997703
NM_001943.3(DSG2):c.829-4G>A rs376424003
NM_001943.4(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_001943.4(DSG2):c.1051A>G (p.Ser351Gly) rs139326669
NM_001943.4(DSG2):c.1063G>A (p.Ala355Thr) rs201046640
NM_001943.4(DSG2):c.1174G>A (p.Val392Ile) rs193922639
NM_001943.4(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380
NM_001943.4(DSG2):c.1491C>T (p.Pro497=) rs587780928
NM_001943.4(DSG2):c.1550C>T (p.Ala517Val) rs200509948
NM_001943.4(DSG2):c.1597G>A (p.Val533Ile) rs199761749
NM_001943.4(DSG2):c.15G>C (p.Pro5=) rs772663614
NM_001943.4(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_001943.4(DSG2):c.1781T>C (p.Leu594Pro) rs199681901
NM_001943.4(DSG2):c.1911C>T (p.Cys637=) rs201654341
NM_001943.4(DSG2):c.1914A>G (p.Gly638=) rs200395484
NM_001943.4(DSG2):c.2137G>A (p.Glu713Lys) rs79241126
NM_001943.4(DSG2):c.217-5G>T rs80073511
NM_001943.4(DSG2):c.221A>G (p.His74Arg) rs201855245
NM_001943.4(DSG2):c.2318G>A (p.Arg773Lys) rs2278792
NM_001943.4(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.4(DSG2):c.2470C>T (p.Arg824Cys) rs201845396
NM_001943.4(DSG2):c.2505A>G (p.Thr835=) rs1042769
NM_001943.4(DSG2):c.2587A>C (p.Met863Leu) rs16962093
NM_001943.4(DSG2):c.2643C>T (p.Thr881=) rs180695545
NM_001943.4(DSG2):c.2759T>G (p.Val920Gly) rs142841727
NM_001943.4(DSG2):c.2886T>G (p.Ile962Met) rs79229040
NM_001943.4(DSG2):c.3059_3062delAGAG (p.Glu1020Alafs) rs397516706
NM_001943.4(DSG2):c.3209C>T (p.Thr1070Met) rs149617776
NM_001943.4(DSG2):c.3243C>T (p.Val1081=) rs11542379
NM_001943.4(DSG2):c.3244C>G (p.Pro1082Ala) rs191300661
NM_001943.4(DSG2):c.3266G>A (p.Gly1089Asp) rs200264407
NM_001943.4(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489
NM_001943.4(DSG2):c.3321T>C (p.Val1107=) rs1791235
NM_001943.4(DSG2):c.473T>G (p.Val158Gly) rs191143292
NM_001943.4(DSG2):c.6G>A (p.Ala2=) rs368809971
NM_001943.4(DSG2):c.861C>T (p.Asn287=) rs2230233
NM_001943.4(DSG2):c.877A>G (p.Ile293Val) rs2230234
NM_001943.4(DSG2):c.877A>T (p.Ile293Leu) rs2230234
NM_001943.5(DSG2):c.*2C>T rs183494886
NM_001943.5(DSG2):c.1847C>T (p.Ala616Val) rs375527314
NM_001943.5(DSG2):c.2004G>A (p.Val668=) rs773645222
NM_001999.3(FBN2):c.1040G>A (p.Arg347His) rs112428886
NM_001999.3(FBN2):c.110C>A (p.Pro37Gln) rs201255083
NM_001999.3(FBN2):c.111G>A (p.Pro37=) rs55715053
NM_001999.3(FBN2):c.1194C>T (p.Ile398=) rs766004910
NM_001999.3(FBN2):c.1256A>G (p.Asp419Gly) rs140464202
NM_001999.3(FBN2):c.1285A>G (p.Ser429Gly) rs115242287
NM_001999.3(FBN2):c.132G>C (p.Pro44=) rs199702573
NM_001999.3(FBN2):c.1423G>A (p.Gly475Ser) rs200440156
NM_001999.3(FBN2):c.1435G>A (p.Gly479Arg) rs147346327
NM_001999.3(FBN2):c.1466-5C>T rs28763952
NM_001999.3(FBN2):c.1749G>A (p.Gly583=) rs75940000
NM_001999.3(FBN2):c.183C>G (p.Pro61=) rs73348287
NM_001999.3(FBN2):c.203C>T (p.Ala68Val) rs62390671
NM_001999.3(FBN2):c.2042G>A (p.Arg681His) rs548605398
NM_001999.3(FBN2):c.2214A>T (p.Gly738=) rs201548788
NM_001999.3(FBN2):c.2260G>A (p.Gly754Ser) rs145259927
NM_001999.3(FBN2):c.2427T>A (p.Ile809=) rs139686090
NM_001999.3(FBN2):c.2508G>A (p.Thr836=) rs372872626
NM_001999.3(FBN2):c.2536G>A (p.Glu846Lys) rs375666281
NM_001999.3(FBN2):c.2625T>C (p.Cys875=) rs371502563
NM_001999.3(FBN2):c.2777C>A (p.Ala926Asp) rs138429045
NM_001999.3(FBN2):c.2778C>T (p.Ala926=) rs28763948
NM_001999.3(FBN2):c.287_289delACT (p.Tyr96del) rs555068280
NM_001999.3(FBN2):c.2940C>T (p.Cys980=) rs143255082
NM_001999.3(FBN2):c.297T>C (p.Pro99=) rs79375977
NM_001999.3(FBN2):c.3013T>C (p.Leu1005=) rs147633551
NM_001999.3(FBN2):c.3015G>A (p.Leu1005=) rs28763946
NM_001999.3(FBN2):c.3144C>T (p.Tyr1048=) rs1801167
NM_001999.3(FBN2):c.3166G>T (p.Ala1056Ser) rs28763945
NM_001999.3(FBN2):c.3235G>T (p.Ala1079Ser) rs774996980
NM_001999.3(FBN2):c.3351C>T (p.Asp1117=) rs78484531
NM_001999.3(FBN2):c.3394G>A (p.Val1132Ile) rs138834515
NM_001999.3(FBN2):c.3405G>A (p.Pro1135=) rs185809581
NM_001999.3(FBN2):c.3414T>C (p.Phe1138=) rs769005512
NM_001999.3(FBN2):c.3430G>A (p.Glu1144Lys) rs200060005
NM_001999.3(FBN2):c.3480C>T (p.Asp1160=) rs142323824
NM_001999.3(FBN2):c.3736T>C (p.Cys1246Arg) rs1554122857
NM_001999.3(FBN2):c.3762C>T (p.Asp1254=) rs2279582
NM_001999.3(FBN2):c.3767A>G (p.Gln1256Arg) rs139052603
NM_001999.3(FBN2):c.4098A>C (p.Thr1366=) rs28763943
NM_001999.3(FBN2):c.4141C>A (p.His1381Asn) rs78727187
NM_001999.3(FBN2):c.4206C>T (p.Asn1402=) rs34201226
NM_001999.3(FBN2):c.4246A>G (p.Thr1416Ala) rs200837433
NM_001999.3(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072
NM_001999.3(FBN2):c.4454A>G (p.Asp1485Gly) rs199665922
NM_001999.3(FBN2):c.4647C>T (p.Asn1549=) rs146662880
NM_001999.3(FBN2):c.4791C>T (p.Ile1597=) rs147040906
NM_001999.3(FBN2):c.4902C>T (p.Pro1634=) rs201071253
NM_001999.3(FBN2):c.4938C>T (p.Ile1646=) rs773597432
NM_001999.3(FBN2):c.4983C>T (p.Cys1661=) rs143907156
NM_001999.3(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.3(FBN2):c.5448A>G (p.Pro1816=) rs138022198
NM_001999.3(FBN2):c.5496C>T (p.Arg1832=) rs35346129
NM_001999.3(FBN2):c.5670T>C (p.Cys1890=) rs74811638
NM_001999.3(FBN2):c.5823T>C (p.His1941=) rs11955288
NM_001999.3(FBN2):c.6000A>G (p.Leu2000=) rs148293104
NM_001999.3(FBN2):c.6253C>G (p.Pro2085Ala) rs34845843
NM_001999.3(FBN2):c.6511+5G>A rs200608284
NM_001999.3(FBN2):c.6551A>T (p.Asn2184Ile) rs149071226
NM_001999.3(FBN2):c.6615C>T (p.Asp2205=) rs28763931
NM_001999.3(FBN2):c.6666G>A (p.Pro2222=) rs192923239
NM_001999.3(FBN2):c.6841A>T (p.Ile2281Phe) rs115223340
NM_001999.3(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_001999.3(FBN2):c.7013-5T>C rs28763927
NM_001999.3(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926
NM_001999.3(FBN2):c.7205G>A (p.Arg2402His) rs148014419
NM_001999.3(FBN2):c.7263G>A (p.Gln2421=) rs114376818
NM_001999.3(FBN2):c.728T>C (p.Ile243Thr) rs117524265
NM_001999.3(FBN2):c.7296G>T (p.Gln2432His) rs34600572
NM_001999.3(FBN2):c.7380C>T (p.Cys2460=) rs147102633
NM_001999.3(FBN2):c.738G>A (p.Ala246=) rs150087436
NM_001999.3(FBN2):c.7418G>T (p.Arg2473Leu) rs28763925
NM_001999.3(FBN2):c.7593A>G (p.Lys2531=) rs28763923
NM_001999.3(FBN2):c.76A>G (p.Thr26Ala) rs374922166
NM_001999.3(FBN2):c.7739C>T (p.Ser2580Leu) rs2291628
NM_001999.3(FBN2):c.7824C>T (p.Thr2608=) rs28763922
NM_001999.3(FBN2):c.8049G>A (p.Gly2683=) rs138044126
NM_001999.3(FBN2):c.8154C>T (p.Leu2718=) rs34119447
NM_001999.3(FBN2):c.8247A>G (p.Thr2749=) rs116413101
NM_001999.3(FBN2):c.829G>A (p.Val277Ile) rs146849637
NM_001999.3(FBN2):c.8304C>T (p.Asn2768=) rs28763920
NM_001999.3(FBN2):c.8332A>C (p.Lys2778Gln) rs371715068
NM_001999.3(FBN2):c.8347G>C (p.Glu2783Gln) rs76756898
NM_001999.3(FBN2):c.8351C>T (p.Pro2784Leu) rs144574441
NM_001999.3(FBN2):c.8469C>T (p.Pro2823=) rs371397121
NM_001999.3(FBN2):c.8537G>A (p.Arg2846His) rs200345491
NM_001999.3(FBN2):c.8733C>G (p.Leu2911=) rs34383505
NM_001999.3(FBN2):c.976C>T (p.Pro326Ser) rs28763954
NM_002052.4(GATA4):c.1037C>T (p.Ala346Val) rs115372595
NM_002052.4(GATA4):c.1129A>G (p.Ser377Gly) rs3729856
NM_002052.4(GATA4):c.1137C>T (p.Ser379=) rs34393445
NM_002052.4(GATA4):c.1221A>C (p.Pro407=) rs7830178
NM_002052.4(GATA4):c.127C>T (p.Arg43Trp) rs387906770
NM_002052.4(GATA4):c.462C>T (p.Phe154=) rs56348550
NM_002052.4(GATA4):c.627C>T (p.Asp209=) rs192122549
NM_002052.4(GATA4):c.699G>A (p.Thr233=) rs55788387
NM_002052.4(GATA4):c.723C>T (p.Cys241=) rs1062215
NM_002052.4(GATA4):c.732C>T (p.Tyr244=) rs146696080
NM_002052.4(GATA4):c.799G>A (p.Val267Met) rs116781972
NM_002052.4(GATA4):c.822C>T (p.Cys274=) rs55980825
NM_002230.2(JUP):c.1224C>T (p.Leu408=) rs2230408
NM_002230.2(JUP):c.1281G>A (p.Thr427=) rs373544304
NM_002230.2(JUP):c.1563A>G (p.Ala521=) rs149926974
NM_002230.2(JUP):c.1710C>T (p.Leu570=) rs375801194
NM_002230.2(JUP):c.1824G>A (p.Leu608=) rs376043057
NM_002230.2(JUP):c.1910G>A (p.Arg637His) rs142095597
NM_002230.2(JUP):c.2025T>C (p.His675=) rs140670556
NM_002230.2(JUP):c.2031G>A (p.Pro677=) rs188888662
NM_002230.2(JUP):c.2089A>T (p.Met697Leu) rs1126821
NM_002230.2(JUP):c.213T>C (p.Asp71=) rs7405731
NM_002230.2(JUP):c.2178C>T (p.Ile726=) rs141295561
NM_002230.2(JUP):c.297G>A (p.Ser99=) rs200976464
NM_002230.2(JUP):c.486G>A (p.Ala162=) rs113317262
NM_002230.2(JUP):c.510G>A (p.Ser170=) rs140539043
NM_002230.2(JUP):c.546G>A (p.Ser182=) rs202038498
NM_002230.2(JUP):c.567C>T (p.Val189=) rs35297577
NM_002230.2(JUP):c.708-4C>G rs201313464
NM_002290.4(LAMA4):c.*1C>T rs148811960
NM_002290.4(LAMA4):c.1014G>A (p.Thr338=) rs147069572
NM_002290.4(LAMA4):c.122C>T (p.Ala41Val) rs553474007
NM_002290.4(LAMA4):c.1454T>A (p.Leu485His) rs3752579
NM_002290.4(LAMA4):c.1626A>C (p.Ser542=) rs149459643
NM_002290.4(LAMA4):c.1938T>C (p.Asp646=) rs143269044
NM_002290.4(LAMA4):c.1978G>T (p.Asp660Tyr) rs397516720
NM_002290.4(LAMA4):c.2150G>A (p.Arg717Lys) rs146868519
NM_002290.4(LAMA4):c.2229G>A (p.Gln743=) rs112305543
NM_002290.4(LAMA4):c.2382G>A (p.Thr794=) rs142559688
NM_002290.4(LAMA4):c.2634C>T (p.Leu878=) rs35772073
NM_002290.4(LAMA4):c.2789A>G (p.Glu930Gly) rs35605307
NM_002290.4(LAMA4):c.3033G>T (p.Leu1011Phe) rs183262122
NM_002290.4(LAMA4):c.3034T>C (p.Tyr1012His) rs73532636
NM_002290.4(LAMA4):c.3154G>A (p.Val1052Met) rs373650093
NM_002290.4(LAMA4):c.3813G>A (p.Gly1271=) rs141988342
NM_002290.4(LAMA4):c.3922G>A (p.Val1308Ile) rs70940811
NM_002290.4(LAMA4):c.4657C>A (p.Arg1553=) rs150069819
NM_002290.4(LAMA4):c.4801-3C>T rs191447048
NM_002290.4(LAMA4):c.514G>A (p.Gly172Ser) rs147695488
NM_002290.4(LAMA4):c.5319A>G (p.Thr1773=) rs139241892
NM_002290.4(LAMA4):c.5429T>C (p.Ile1810Thr) rs144482486
NM_002290.4(LAMA4):c.641G>A (p.Arg214His) rs139146419
NM_002290.4(LAMA4):c.85G>C (p.Asp29His) rs150662822
NM_002294.2(LAMP2):c.-4G>C rs200297370
NM_002294.2(LAMP2):c.1142T>C (p.Val381Ala) rs139633545
NM_002294.2(LAMP2):c.156A>T (p.Val52=) rs12097
NM_002294.2(LAMP2):c.339C>T (p.Ser113=) rs147369153
NM_002294.2(LAMP2):c.586A>T (p.Thr196Ser) rs138991195
NM_002294.2(LAMP2):c.591G>A (p.Val197=) rs201030806
NM_002294.2(LAMP2):c.661G>A (p.Gly221Arg) rs145169006
NM_002294.2(LAMP2):c.755T>G (p.Ile252Ser) rs141541387
NM_002294.2(LAMP2):c.927C>T (p.Ser309=) rs73219144
NM_002471.3(MYH6):c.-5C>A rs183611755
NM_002471.3(MYH6):c.1083G>T (p.Gly361=) rs138928022
NM_002471.3(MYH6):c.1122G>A (p.Ala374=) rs148091079
NM_002471.3(MYH6):c.1131C>G (p.Asp377Glu) rs61742472
NM_002471.3(MYH6):c.1131C>T (p.Asp377=) rs61742472
NM_002471.3(MYH6):c.1132G>A (p.Gly378Ser) rs148962966
NM_002471.3(MYH6):c.1252G>A (p.Val418Met) rs147606900
NM_002471.3(MYH6):c.1275C>T (p.Ile425=) rs61742470
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.1989C>T (p.Asn663=) rs28730774
NM_002471.3(MYH6):c.2071G>A (p.Val691Ile) rs148915045
NM_002471.3(MYH6):c.210T>C (p.Thr70=) rs147397431
NM_002471.3(MYH6):c.2151C>T (p.Tyr717=) rs76202964
NM_002471.3(MYH6):c.2401A>G (p.Ile801Val) rs75487328
NM_002471.3(MYH6):c.2430-4C>A rs376527296
NM_002471.3(MYH6):c.2579G>A (p.Arg860His) rs115845031
NM_002471.3(MYH6):c.2890G>T (p.Ala964Ser) rs144907522
NM_002471.3(MYH6):c.2928+5G>A rs28730772
NM_002471.3(MYH6):c.2946G>A (p.Glu982=) rs145274612
NM_002471.3(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652
NM_002471.3(MYH6):c.3177C>T (p.Gly1059=) rs529676901
NM_002471.3(MYH6):c.3297G>A (p.Glu1099=) rs144957142
NM_002471.3(MYH6):c.3302T>C (p.Val1101Ala) rs365990
NM_002471.3(MYH6):c.3302_3303invTG (p.Val1101Ala)
NM_002471.3(MYH6):c.330G>A (p.Ala110=) rs77679218
NM_002471.3(MYH6):c.3343-3delC rs1027186100
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.3468C>T (p.Gly1156=) rs545420992
NM_002471.3(MYH6):c.3480C>T (p.Ser1160=) rs373345984
NM_002471.3(MYH6):c.3573C>T (p.Ala1191=) rs727505358
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.3883G>C (p.Glu1295Gln) rs34935550
NM_002471.3(MYH6):c.393G>A (p.Leu131=) rs17277970
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.4359+5A>G rs193283041
NM_002471.3(MYH6):c.4416A>G (p.Ser1472=) rs140800076
NM_002471.3(MYH6):c.4527G>A (p.Glu1509=) rs34855944
NM_002471.3(MYH6):c.4536G>A (p.Ser1512=) rs142539180
NM_002471.3(MYH6):c.4595G>T (p.Arg1532Leu) rs34330111
NM_002471.3(MYH6):c.4778A>T (p.Gln1593Leu) rs45574136
NM_002471.3(MYH6):c.4782G>A (p.Arg1594=) rs142823394
NM_002471.3(MYH6):c.4838T>C (p.Val1613Ala) rs61742476
NM_002471.3(MYH6):c.4905C>T (p.Asn1635=) rs143048583
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.492C>T (p.Tyr164=) rs201380776
NM_002471.3(MYH6):c.4980C>T (p.Asp1660=) rs382872
NM_002471.3(MYH6):c.4986G>A (p.Ala1662=) rs77416370
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.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.5598A>G (p.Leu1866=) rs17091278
NM_002471.3(MYH6):c.5601G>A (p.Gln1867=) rs148984154
NM_002471.3(MYH6):c.5652C>T (p.Ala1884=) rs200662317
NM_002471.3(MYH6):c.622G>A (p.Asp208Asn) rs142027794
NM_002471.3(MYH6):c.635C>T (p.Ala212Val) rs780456381
NM_002471.3(MYH6):c.643-5C>T rs199859986
NM_002471.3(MYH6):c.679G>A (p.Ala227Thr) rs201828188
NM_002471.3(MYH6):c.70C>A (p.Leu24Ile) rs573489857
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.999C>T (p.Thr333=) rs78107039
NM_002474.2(MYH11):c.*5C>G rs1875184
NM_002474.2(MYH11):c.1017C>T (p.Ser339=) rs112161189
NM_002474.2(MYH11):c.1056G>A (p.Ser352=) rs201256839
NM_002474.2(MYH11):c.1212G>C (p.Gly404=) rs201198815
NM_002474.2(MYH11):c.12G>A (p.Lys4=) rs112650390
NM_002474.2(MYH11):c.135C>T (p.Phe45=) rs28570191
NM_002474.2(MYH11):c.1419G>A (p.Gln473=) rs61734198
NM_002474.2(MYH11):c.1502G>A (p.Arg501His) rs144244239
NM_002474.2(MYH11):c.1512C>T (p.Ile504=) rs149630866
NM_002474.2(MYH11):c.1732A>G (p.Ile578Val) rs111936548
NM_002474.2(MYH11):c.1743T>C (p.Ala581=) rs2272554
NM_002474.2(MYH11):c.1848C>T (p.Ala616=) rs112834652
NM_002474.2(MYH11):c.2061C>T (p.Ser687=) rs880071
NM_002474.2(MYH11):c.2079C>T (p.Phe693=) rs34287137
NM_002474.2(MYH11):c.217A>C (p.Lys73Gln) rs147447269
NM_002474.2(MYH11):c.2208C>T (p.Ile736=) rs12931799
NM_002474.2(MYH11):c.2472C>T (p.Ala824=) rs1050113
NM_002474.2(MYH11):c.2648C>T (p.Ser883Leu) rs35035518
NM_002474.2(MYH11):c.2649G>A (p.Ser883=) rs150943863
NM_002474.2(MYH11):c.2802G>A (p.Glu934=) rs138977949
NM_002474.2(MYH11):c.291C>T (p.Asn97=) rs113363750
NM_002474.2(MYH11):c.2961C>T (p.Ile987=) rs137988790
NM_002474.2(MYH11):c.3031T>C (p.Leu1011=) rs112861184
NM_002474.2(MYH11):c.3291C>T (p.Ala1097=) rs147605116
NM_002474.2(MYH11):c.3309C>T (p.Ile1103=) rs370854451
NM_002474.2(MYH11):c.3310G>A (p.Ala1104Thr) rs34263860
NM_002474.2(MYH11):c.3531G>A (p.Thr1177=) rs149980738
NM_002474.2(MYH11):c.3562C>T (p.Arg1188Trp) rs146388001
NM_002474.2(MYH11):c.3816G>A (p.Glu1272=) rs112990531
NM_002474.2(MYH11):c.3828G>A (p.Ala1276=) rs113154524
NM_002474.2(MYH11):c.3866T>C (p.Val1289Ala) rs16967510
NM_002474.2(MYH11):c.387A>G (p.Lys129=) rs78754138
NM_002474.2(MYH11):c.3910A>C (p.Ile1304Leu) rs200737737
NM_002474.2(MYH11):c.3928G>A (p.Val1310Met) rs7196804
NM_002474.2(MYH11):c.3949C>A (p.Leu1317Ile) rs141159831
NM_002474.2(MYH11):c.3973C>G (p.Gln1325Glu) rs150033906
NM_002474.2(MYH11):c.417C>T (p.Val139=) rs1050111
NM_002474.2(MYH11):c.4239C>T (p.Ala1413=) rs138573101
NM_002474.2(MYH11):c.4240G>A (p.Ala1414Thr) rs112467954
NM_002474.2(MYH11):c.4242T>G (p.Ala1414=) rs2075511
NM_002474.2(MYH11):c.4506C>T (p.Leu1502=) rs76890940
NM_002474.2(MYH11):c.4522A>G (p.Met1508Val) rs35176378
NM_002474.2(MYH11):c.453G>A (p.Pro151=) rs61734199
NM_002474.2(MYH11):c.4578+3A>G rs143288748
NM_002474.2(MYH11):c.4681G>A (p.Ala1561Thr) rs138863103
NM_002474.2(MYH11):c.471C>T (p.Ile157=) rs140267000
NM_002474.2(MYH11):c.4770G>A (p.Lys1590=) rs11648119
NM_002474.2(MYH11):c.4774A>C (p.Arg1592=) rs114556043
NM_002474.2(MYH11):c.4791+4C>T rs142108062
NM_002474.2(MYH11):c.4809G>A (p.Thr1603=) rs140577744
NM_002474.2(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232
NM_002474.2(MYH11):c.5160C>T (p.Ser1720=) rs199564260
NM_002474.2(MYH11):c.5275G>A (p.Val1759Ile) rs138059405
NM_002474.2(MYH11):c.5450C>T (p.Ala1817Val) rs142654744
NM_002474.2(MYH11):c.546C>T (p.Ala182=) rs113577450
NM_002474.2(MYH11):c.5499G>C (p.Glu1833Asp) rs145252402
NM_002474.2(MYH11):c.5516C>T (p.Ala1839Val) rs112948385
NM_002474.2(MYH11):c.5517G>A (p.Ala1839=) rs28505375
NM_002474.2(MYH11):c.5528C>T (p.Ser1843Leu) rs148621523
NM_002474.2(MYH11):c.5529G>A (p.Ser1843=) rs146024732
NM_002474.2(MYH11):c.5566C>T (p.Leu1856=) rs142639688
NM_002474.2(MYH11):c.5585G>A (p.Arg1862His) rs146228576
NM_002474.2(MYH11):c.5595C>T (p.Ala1865=) rs760286479
NM_002474.2(MYH11):c.5676G>C (p.Glu1892Asp) rs113964173
NM_002474.2(MYH11):c.5691C>T (p.Asn1897=) rs149566621
NM_002474.2(MYH11):c.5757C>T (p.Arg1919=) rs138168272
NM_002474.2(MYH11):c.5796C>T (p.Asn1932=) rs149529195
NM_002474.2(MYH11):c.57C>T (p.Asn19=) rs148464745
NM_002474.2(MYH11):c.5800A>T (p.Thr1934Ser) rs113667224
NM_002474.2(MYH11):c.5886C>T (p.Asp1962=) rs140789717
NM_002474.2(MYH11):c.792T>C (p.Tyr264=) rs34341838
NM_002474.2(MYH11):c.914A>G (p.Asn305Ser) rs185661462
NM_002474.2(MYH11):c.987C>T (p.Thr329=) rs4781689
NM_002667.4(PLN):c.116T>G (p.Leu39Ter) rs111033560
NM_002667.4(PLN):c.27C>T (p.Arg9=) rs145623013
NM_002834.4(PTPN11):c.1449T>G (p.Gly483=) rs143238917
NM_002834.4(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.4(PTPN11):c.1650G>A (p.Ala550=) rs374896287
NM_002834.4(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.4(PTPN11):c.1746C>T (p.Asn582=) rs397516800
NM_002834.4(PTPN11):c.255C>T (p.His85=) rs61736914
NM_002834.4(PTPN11):c.392A>G (p.Lys131Arg) rs397516805
NM_002834.4(PTPN11):c.486C>T (p.Asp162=) rs397507522
NM_002834.4(PTPN11):c.558G>T (p.Arg186=) rs200920312
NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002834.4(PTPN11):c.925A>G (p.Ile309Val) rs201787206
NM_002880.3(RAF1):c.1113T>C (p.Asp371=) rs146668293
NM_002880.3(RAF1):c.119G>A (p.Arg40His) rs192632236
NM_002880.3(RAF1):c.122G>A (p.Arg41Gln) rs145611571
NM_002880.3(RAF1):c.1472C>T (p.Thr491Ile) rs80338799
NM_002880.3(RAF1):c.1755A>G (p.Val585=) rs3730296
NM_002880.3(RAF1):c.1830A>G (p.Gln610=) rs141791080
NM_002880.3(RAF1):c.1914G>A (p.Thr638=) rs144876026
NM_002880.3(RAF1):c.212A>G (p.Asn71Ser) rs184022679
NM_002880.3(RAF1):c.639T>C (p.Thr213=) rs397516823
NM_002880.3(RAF1):c.779C>T (p.Thr260Ile) rs869025501
NM_002880.3(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_002880.3(RAF1):c.935T>C (p.Val312Ala) rs370243307
NM_003036.3(SKI):c.1033G>A (p.Ala345Thr) rs150934009
NM_003036.3(SKI):c.1163C>T (p.Ala388Val) rs75280988
NM_003036.3(SKI):c.1196C>T (p.Ala399Val) rs141862996
NM_003036.3(SKI):c.1258G>A (p.Ala420Thr) rs771862077
NM_003036.3(SKI):c.1338C>T (p.Leu446=) rs148632347
NM_003036.3(SKI):c.1384C>G (p.Pro462Ala) rs199797772
NM_003036.3(SKI):c.1527C>T (p.Ser509=) rs111935632
NM_003036.3(SKI):c.1548G>A (p.Pro516=) rs1239990628
NM_003036.3(SKI):c.1568C>T (p.Ser523Leu) rs730880212
NM_003036.3(SKI):c.1593T>C (p.Pro531=) rs144279718
NM_003036.3(SKI):c.1632C>T (p.His544=) rs373914574
NM_003036.3(SKI):c.1834C>T (p.Leu612=) rs35833638
NM_003036.3(SKI):c.2007C>G (p.Asp669Glu) rs750838146
NM_003036.3(SKI):c.2058C>T (p.Ala686=) rs1171554207
NM_003036.3(SKI):c.216C>T (p.Pro72=) rs756778048
NM_003036.3(SKI):c.2184G>C (p.Pro728=) rs543584871
NM_003036.3(SKI):c.360C>T (p.Arg120=) rs375024753
NM_003036.3(SKI):c.417C>T (p.Ile139=) rs144874401
NM_003036.3(SKI):c.798C>T (p.Ala266=) rs149642284
NM_003036.3(SKI):c.799C>T (p.Leu267=) rs140178396
NM_003036.3(SKI):c.948G>A (p.Lys316=) rs368128582
NM_003098.2(SNTA1):c.1350C>T (p.Phe450=) rs116747979
NM_003098.2(SNTA1):c.1426-5T>C rs183939417
NM_003098.2(SNTA1):c.166C>T (p.Pro56Ser) rs573772189
NM_003098.2(SNTA1):c.221C>T (p.Pro74Leu) rs572545726
NM_003098.2(SNTA1):c.317G>A (p.Arg106Gln) rs75025585
NM_003098.2(SNTA1):c.555C>T (p.Val185=) rs34995247
NM_003098.2(SNTA1):c.566C>T (p.Ser189Leu) rs144860423
NM_003098.2(SNTA1):c.589C>T (p.Arg197Trp) rs530603992
NM_003098.2(SNTA1):c.770C>G (p.Ala257Gly) rs56157422
NM_003098.2(SNTA1):c.784A>C (p.Thr262Pro) rs200316080
NM_003098.2(SNTA1):c.807T>C (p.Asn269=) rs73270015
NM_003098.2(SNTA1):c.828G>A (p.Lys276=) rs35938843
NM_003098.2(SNTA1):c.910C>T (p.Leu304=) rs141775350
NM_003098.2(SNTA1):c.984C>T (p.Pro328=) rs138863915
NM_003098.2(SNTA1):c.993C>T (p.Arg331=) rs143309917
NM_003238.3(TGFB2):c.576_577delAA (p.Arg193Serfs) rs1064796256
NM_003238.4(TGFB2):c.1239C>T (p.Cys413=) rs141225367
NM_003238.4(TGFB2):c.303G>A (p.Lys101=) rs147052890
NM_003238.4(TGFB2):c.588C>T (p.Gly196=) rs192335285
NM_003238.4(TGFB2):c.823A>G (p.Ser275Gly) rs139825195
NM_003238.4(TGFB2):c.905G>A (p.Arg302His) rs1553303213
NM_003239.4(TGFB3):c.1122C>G (p.Ala374=) rs4252345
NM_003239.4(TGFB3):c.164G>A (p.Ser55Asn) rs143229915
NM_003239.4(TGFB3):c.293C>T (p.Ser98Leu) rs142047577
NM_003239.4(TGFB3):c.294G>A (p.Ser98=) rs778214495
NM_003239.4(TGFB3):c.34C>T (p.Leu12=) rs143612445
NM_003239.4(TGFB3):c.351C>T (p.His117=) rs375232060
NM_003239.4(TGFB3):c.39C>T (p.Ala13=) rs11466415
NM_003239.4(TGFB3):c.442C>T (p.Arg148Ter) rs1057523647
NM_003239.4(TGFB3):c.744C>A (p.Ile248=) rs45477900
NM_003239.4(TGFB3):c.873G>A (p.Pro291=) rs370006165
NM_003239.4(TGFB3):c.886_893dup (p.Lys298Asnfs) rs1555360368
NM_003239.4(TGFB3):c.88T>C (p.Leu30=) rs3917145
NM_003239.4(TGFB3):c.96C>T (p.Phe32=) rs748977151
NM_003239.4(TGFB3):c.973C>T (p.Arg325Ter) rs1555360229
NM_003242.5(TGFBR2):c.1062C>T (p.Leu354=) rs113194608
NM_003242.5(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_003242.5(TGFBR2):c.1159G>T (p.Val387Leu) rs35766612
NM_003242.5(TGFBR2):c.1408T>G (p.Tyr470Asp) rs863224935
NM_003242.5(TGFBR2):c.1458C>T (p.Ser486=) rs139881155
NM_003242.5(TGFBR2):c.1602G>A (p.Val534=) rs140818646
NM_003242.5(TGFBR2):c.383delA (p.Lys128Serfs) rs79375991
NM_003242.5(TGFBR2):c.571G>A (p.Val191Ile) rs56105708
NM_003242.5(TGFBR2):c.902A>G (p.His301Arg) rs863223857
NM_003242.5(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
NM_003242.5(TGFBR2):c.984C>T (p.His328=) rs193922666
NM_003276.2(TMPO):c.1246A>G (p.Lys416Glu) rs11838270
NM_003276.2(TMPO):c.1277C>T (p.Pro426Leu) rs141443652
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.1730C>T (p.Ala577Val) rs34150443
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.686C>T (p.Thr229Ile) rs138790561
NM_003276.2(TMPO):c.713T>G (p.Leu238Arg) rs35998138
NM_003276.2(TMPO):c.821G>A (p.Arg274Lys) rs139700737
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_003280.2(TNNC1):c.108C>A (p.Ile36=) rs202000367
NM_003280.2(TNNC1):c.201C>T (p.Asp67=) rs150881554
NM_003280.2(TNNC1):c.203-5C>T rs142519988
NM_003280.2(TNNC1):c.23C>T (p.Ala8Val) rs267607125
NM_003280.2(TNNC1):c.387G>C (p.Thr129=) rs397516845
NM_003280.2(TNNC1):c.435C>A (p.Asp145Glu) rs267607124
NM_003319.4(TTN):c.10870A>G (p.Ile3624Val) rs551387805
NM_003319.4(TTN):c.111G>C (p.Val37=) rs373923523
NM_003319.4(TTN):c.12960C>T (p.Ser4320=) rs370208081
NM_003319.4(TTN):c.13282+4410G>A rs72648932
NM_003319.4(TTN):c.13386A>G (p.Glu4462=) rs775954427
NM_003319.4(TTN):c.14508T>C (p.Thr4836=) rs756282138
NM_003319.4(TTN):c.16641A>G (p.Ala5547=) rs755492644
NM_003319.4(TTN):c.16917C>T (p.His5639=) rs754693395
NM_003319.4(TTN):c.17223C>T (p.Ser5741=) rs368005198
NM_003319.4(TTN):c.19942_19943delAG (p.Ser6648Leufs) rs886039125
NM_003319.4(TTN):c.20022C>T (p.Gly6674=) rs373305832
NM_003319.4(TTN):c.20299C>T (p.Arg6767Ter) rs751746401
NM_003319.4(TTN):c.23257G>A (p.Glu7753Lys) rs397517600
NM_003319.4(TTN):c.23563C>G (p.Pro7855Ala) rs377289817
NM_003319.4(TTN):c.29655G>A (p.Val9885=) rs368068200
NM_003319.4(TTN):c.35311C>T (p.Arg11771Ter) rs757231565
NM_003319.4(TTN):c.36684C>T (p.Asp12228=) rs200463088
NM_003319.4(TTN):c.46588G>A (p.Ala15530Thr) rs543275318
NM_003319.4(TTN):c.55602C>T (p.Gly18534=) rs72648216
NM_003319.4(TTN):c.57895C>T (p.Arg19299Ter) rs770038577
NM_003319.4(TTN):c.61315G>A (p.Asp20439Asn) rs376679796
NM_003319.4(TTN):c.65436dupG (p.Lys21813Glufs) rs886039145
NM_003319.4(TTN):c.66060G>A (p.Pro22020=) rs372611171
NM_003319.4(TTN):c.66777A>G (p.Glu22259=) rs727504528
NM_003319.4(TTN):c.6682C>G (p.Gln2228Glu) rs145649088
NM_003319.4(TTN):c.68820C>T (p.Pro22940=) rs183620684
NM_003319.4(TTN):c.71967G>A (p.Lys23989=) rs368686031
NM_003319.4(TTN):c.73903delGinsCT (p.Asp24635Leufs) rs794729367
NM_003319.4(TTN):c.74730A>G (p.Leu24910=) rs201246720
NM_003319.4(TTN):c.75690T>C (p.Gly25230=) rs886039175
NM_003319.4(TTN):c.7819T>C (p.Leu2607=) rs201837864
NM_003476.4(CSRP3):c.10T>C (p.Trp4Arg) rs45550635
NM_003476.4(CSRP3):c.131T>C (p.Leu44Pro) rs104894205
NM_003476.4(CSRP3):c.150G>A (p.Ala50=) rs7124801
NM_003476.4(CSRP3):c.162G>A (p.Ser54=) rs112848043
NM_003476.4(CSRP3):c.206A>G (p.Lys69Arg) rs137852764
NM_003476.4(CSRP3):c.213C>T (p.Ile71=) rs45476991
NM_003476.4(CSRP3):c.233G>T (p.Gly78Val) rs963128995
NM_003476.4(CSRP3):c.299G>A (p.Arg100His) rs138218523
NM_003476.4(CSRP3):c.312C>G (p.Thr104=) rs45582433
NM_003476.4(CSRP3):c.336G>A (p.Ala112=) rs13451
NM_003476.4(CSRP3):c.449G>A (p.Cys150Tyr) rs761507504
NM_003673.3(TCAP):c.313G>C (p.Glu105Gln) rs146906267
NM_003673.3(TCAP):c.316C>T (p.Arg106Cys) rs45578741
NM_003673.3(TCAP):c.353C>T (p.Ala118Val) rs143233087
NM_003673.3(TCAP):c.37_39delGAG (p.Glu13del) rs397516862
NM_003673.3(TCAP):c.421C>G (p.Pro141Ala) rs45509691
NM_003673.3(TCAP):c.453A>C (p.Ala151=) rs1053651
NM_003673.3(TCAP):c.60C>G (p.Ala20=) rs146502276
NM_003803.3(MYOM1):c.1900+3A>C rs77613865
NM_003803.3(MYOM1):c.2062A>T (p.Thr688Ser) rs188677538
NM_003803.3(MYOM1):c.2384+4A>T rs73373171
NM_003803.3(MYOM1):c.2727G>A (p.Pro909=) rs72860212
NM_003803.3(MYOM1):c.3038C>T (p.Ala1013Val) rs557671408
NM_003803.3(MYOM1):c.3639A>G (p.Thr1213=) rs558779097
NM_003803.3(MYOM1):c.4776C>G (p.Leu1592=) rs1143658
NM_003803.3(MYOM1):c.5019C>T (p.Ala1673=) rs199980922
NM_003803.3(MYOM1):c.739G>A (p.Glu247Lys) rs139422575
NM_004006.2(DMD):c.10262+1G>A rs145603325
NM_004006.2(DMD):c.1028G>A (p.Arg343His) rs61733589
NM_004006.2(DMD):c.10789C>T (p.Leu3597=) rs1800281
NM_004006.2(DMD):c.10836C>T (p.Ser3612=) rs148590546
NM_004006.2(DMD):c.1095A>C (p.Gln365His) rs1800266
NM_004006.2(DMD):c.1225A>T (p.Thr409Ser) rs34155804
NM_004006.2(DMD):c.1337A>G (p.His446Arg) rs72468699
NM_004006.2(DMD):c.1382A>G (p.Asn461Ser) rs775115784
NM_004006.2(DMD):c.1513G>C (p.Val505Leu) rs140340626
NM_004006.2(DMD):c.1635A>G (p.Arg545=) rs5927083
NM_004006.2(DMD):c.1704+3G>A rs773123973
NM_004006.2(DMD):c.1731A>T (p.Glu577Asp) rs150199251
NM_004006.2(DMD):c.1812C>T (p.Ala604=) rs140919039
NM_004006.2(DMD):c.1869C>T (p.Leu623=) rs1800267
NM_004006.2(DMD):c.1888A>G (p.Thr630Ala) rs72468692
NM_004006.2(DMD):c.2331G>C (p.Leu777=) rs369659071
NM_004006.2(DMD):c.2490C>T (p.Asn830=) rs72468679
NM_004006.2(DMD):c.2569C>T (p.Pro857Ser) rs552275776
NM_004006.2(DMD):c.2575A>T (p.Thr859Ser) rs187926894
NM_004006.2(DMD):c.2617T>C (p.Cys873Arg) rs200872948
NM_004006.2(DMD):c.2745A>C (p.Thr915=) rs149922633
NM_004006.2(DMD):c.2827C>T (p.Arg943Cys) rs199986217
NM_004006.2(DMD):c.2884C>G (p.Leu962Val) rs150959827
NM_004006.2(DMD):c.2971G>C (p.Glu991Gln) rs72468667
NM_004006.2(DMD):c.3020C>T (p.Ser1007Leu) rs144732570
NM_004006.2(DMD):c.3406A>T (p.Thr1136Ser) rs3827462
NM_004006.2(DMD):c.3705C>T (p.Ala1235=) rs143628111
NM_004006.2(DMD):c.3734C>T (p.Thr1245Ile) rs1800269
NM_004006.2(DMD):c.3951G>A (p.Glu1317=) rs199643655
NM_004006.2(DMD):c.3970C>T (p.Arg1324Cys) rs143184877
NM_004006.2(DMD):c.4125T>C (p.Thr1375=) rs144329742
NM_004006.2(DMD):c.4162T>G (p.Phe1388Val) rs28715870
NM_004006.2(DMD):c.4233+2C>T rs147474070
NM_004006.2(DMD):c.4275A>G (p.Glu1425=) rs72468647
NM_004006.2(DMD):c.4529A>G (p.Lys1510Arg) rs72468638
NM_004006.2(DMD):c.4684A>G (p.Arg1562Gly) rs771425504
NM_004006.2(DMD):c.468A>C (p.Val156=) rs886044031
NM_004006.2(DMD):c.4878G>T (p.Val1626=) rs61733574
NM_004006.2(DMD):c.5016T>A (p.Asn1672Lys) rs16990264
NM_004006.2(DMD):c.5182C>T (p.Arg1728Cys) rs34102501
NM_004006.2(DMD):c.5203C>T (p.Arg1735Cys) rs147904018
NM_004006.2(DMD):c.5234G>A (p.Arg1745His) rs1801187
NM_004006.2(DMD):c.5265C>T (p.Pro1755=) rs145515413
NM_004006.2(DMD):c.5485C>G (p.Gln1829Glu) rs754765424
NM_004006.2(DMD):c.5620G>A (p.Glu1874Lys) rs142441725
NM_004006.2(DMD):c.5701G>A (p.Ala1901Thr) rs201302282
NM_004006.2(DMD):c.5724T>C (p.Asp1908=) rs143159113
NM_004006.2(DMD):c.5984A>T (p.Tyr1995Phe) rs147927593
NM_004006.2(DMD):c.6143G>A (p.Ser2048Asn) rs200494003
NM_004006.2(DMD):c.6322C>T (p.Arg2108Cys) rs16990169
NM_004006.2(DMD):c.6463C>T (p.Arg2155Trp) rs1800273
NM_004006.2(DMD):c.6471T>A (p.Thr2157=) rs377080659
NM_004006.2(DMD):c.6571C>T (p.Arg2191Trp) rs149322279
NM_004006.2(DMD):c.7151C>A (p.Ser2384Tyr) rs185706283
NM_004006.2(DMD):c.7183G>A (p.Ala2395Thr) rs72466590
NM_004006.2(DMD):c.7243C>T (p.Arg2415Cys) rs139395045
NM_004006.2(DMD):c.7472A>G (p.Gln2491Arg) rs147694734
NM_004006.2(DMD):c.7521C>T (p.Asn2507=) rs112516305
NM_004006.2(DMD):c.7728T>C (p.Asn2576=) rs1801188
NM_004006.2(DMD):c.802T>C (p.Leu268=) rs1800264
NM_004006.2(DMD):c.8076A>G (p.Gln2692=) rs144518527
NM_004006.2(DMD):c.8212T>C (p.Trp2738Arg) rs372600090
NM_004006.2(DMD):c.8226A>G (p.Gln2742=) rs746514008
NM_004006.2(DMD):c.8255A>G (p.Tyr2752Cys) rs373832446
NM_004006.2(DMD):c.837G>A (p.Thr279=) rs1800265
NM_004006.2(DMD):c.8571T>C (p.Thr2857=) rs72466570
NM_004006.2(DMD):c.8729A>T (p.Glu2910Val) rs41305353
NM_004006.2(DMD):c.8734A>G (p.Asn2912Asp) rs1800278
NM_004006.2(DMD):c.8762A>G (p.His2921Arg) rs1800279
NM_004006.2(DMD):c.8767G>T (p.Ala2923Ser) rs116283249
NM_004006.2(DMD):c.8974G>A (p.Val2992Met) rs201691420
NM_004006.2(DMD):c.9165G>A (p.Thr3055=) rs137905486
NM_004006.2(DMD):c.9486G>A (p.Glu3162=) rs370724251
NM_004006.2(DMD):c.9804A>G (p.Gln3268=) rs12690372
NM_004100.4(EYA4):c.1035G>C (p.Arg345Ser) rs140170914
NM_004100.4(EYA4):c.783G>A (p.Thr261=) rs17854076
NM_004100.4(EYA4):c.829G>A (p.Gly277Ser) rs9493627
NM_004100.4(EYA4):c.979G>A (p.Asp327Asn) rs144415484
NM_004281.3(BAG3):c.1138C>T (p.Pro380Ser) rs144692954
NM_004281.3(BAG3):c.1503C>A (p.Val501=) rs147277075
NM_004281.3(BAG3):c.1587C>T (p.Ala529=) rs149358702
NM_004281.3(BAG3):c.1588G>A (p.Val530Met) rs144678100
NM_004281.3(BAG3):c.212G>A (p.Arg71Gln) rs35434411
NM_004281.3(BAG3):c.25A>G (p.Met9Val) rs137965903
NM_004281.3(BAG3):c.280A>T (p.Ile94Phe) rs145393807
NM_004281.3(BAG3):c.367C>T (p.Arg123Ter) rs387906875
NM_004281.3(BAG3):c.463G>A (p.Ala155Thr) rs61756328
NM_004281.3(BAG3):c.549C>G (p.Ser183=) rs112929734
NM_004281.3(BAG3):c.652C>T (p.Arg218Trp) rs397514506
NM_004281.3(BAG3):c.653G>A (p.Arg218Gln) rs201638005
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp) rs117671123
NM_004281.3(BAG3):c.870C>G (p.Pro290=) rs140737221
NM_004281.3(BAG3):c.888C>T (p.His296=) rs139399890
NM_004281.3(BAG3):c.898G>A (p.Asp300Asn) rs78439745
NM_004281.3(BAG3):c.96G>T (p.Pro32=) rs372083121
NM_004387.3(NKX2-5):c.114G>A (p.Glu38=) rs151314714
NM_004387.3(NKX2-5):c.237G>C (p.Pro79=) rs72554029
NM_004387.3(NKX2-5):c.355G>T (p.Ala119Ser) rs137852684
NM_004387.3(NKX2-5):c.543G>A (p.Gln181=) rs72554028
NM_004387.3(NKX2-5):c.606G>C (p.Leu202=) rs3729753
NM_004387.3(NKX2-5):c.61G>C (p.Glu21Gln) rs104893904
NM_004387.3(NKX2-5):c.65A>G (p.Gln22Arg) rs201442000
NM_004387.3(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670
NM_004387.3(NKX2-5):c.809G>A (p.Cys270Tyr) rs587782931
NM_004387.3(NKX2-5):c.861C>T (p.Ala287=) rs77612903
NM_004415.2(DSP):c.1206G>A (p.Lys402=) rs150422458
NM_004415.2(DSP):c.12C>G (p.Asn4Lys) rs368802003
NM_004415.2(DSP):c.1344G>A (p.Leu448=) rs138226280
NM_004415.2(DSP):c.1481A>T (p.Tyr494Phe) rs28763961
NM_004415.2(DSP):c.1483G>A (p.Val495Met) rs372014020
NM_004415.2(DSP):c.1488G>A (p.Thr496=) rs35820473
NM_004415.2(DSP):c.1778A>G (p.Asn593Ser) rs34239595
NM_004415.2(DSP):c.1864C>T (p.Leu622=) rs200790278
NM_004415.2(DSP):c.1920C>T (p.Ile640=) rs74806300
NM_004415.2(DSP):c.2346C>T (p.Asp782=) rs139071827
NM_004415.2(DSP):c.2422C>T (p.Arg808Cys) rs150339369
NM_004415.2(DSP):c.2723G>A (p.Arg908His) rs142494121
NM_004415.2(DSP):c.2774G>A (p.Arg925Gln) rs139799237
NM_004415.2(DSP):c.2815G>A (p.Gly939Ser) rs80325569
NM_004415.2(DSP):c.3303C>T (p.Tyr1101=) rs372440854
NM_004415.2(DSP):c.3510G>A (p.Glu1170=) rs28763964
NM_004415.2(DSP):c.3650C>T (p.Thr1217Met) rs535202724
NM_004415.2(DSP):c.3696C>A (p.Ser1232=) rs141120358
NM_004415.2(DSP):c.3735_3741dupAAATCGA (p.Asp1248Lysfs) rs1554108152
NM_004415.2(DSP):c.3862A>C (p.Lys1288Gln) rs138907450
NM_004415.2(DSP):c.3865C>T (p.Gln1289Ter) rs778178956
NM_004415.2(DSP):c.3963G>A (p.Gln1321=) rs61731476
NM_004415.2(DSP):c.4065T>C (p.Tyr1355=) rs148478829
NM_004415.2(DSP):c.4372C>G (p.Arg1458Gly) rs28763965
NM_004415.2(DSP):c.4383G>A (p.Glu1461=) rs140029036
NM_004415.2(DSP):c.4455G>T (p.Arg1485Ser) rs113902911
NM_004415.2(DSP):c.4489C>T (p.Arg1497Trp) rs148041814
NM_004415.2(DSP):c.4588G>T (p.Val1530Phe) rs141227126
NM_004415.2(DSP):c.4609C>T (p.Arg1537Cys) rs28763967
NM_004415.2(DSP):c.4741A>G (p.Lys1581Glu) rs186842903
NM_004415.2(DSP):c.4773G>A (p.Arg1591=) rs28763968
NM_004415.2(DSP):c.478C>T (p.Arg160Ter) rs397516943
NM_004415.2(DSP):c.4886G>T (p.Ser1629Ile) rs200243976
NM_004415.2(DSP):c.5178C>A (p.Asn1726Lys) rs147415451
NM_004415.2(DSP):c.522T>C (p.Cys174=) rs144781697
NM_004415.2(DSP):c.5498A>T (p.Glu1833Val) rs78652302
NM_004415.2(DSP):c.5554C>T (p.Arg1852Cys) rs550818559
NM_004415.2(DSP):c.6390T>C (p.Ala2130=) rs28763969
NM_004415.2(DSP):c.6496C>T (p.Arg2166Ter) rs141026028
NM_004415.2(DSP):c.6678T>A (p.Gly2226=) rs149070106
NM_004415.2(DSP):c.688G>A (p.Asp230Asn) rs147315869
NM_004415.2(DSP):c.7125G>A (p.Gly2375=) rs141709096
NM_004415.2(DSP):c.7278T>C (p.Tyr2426=) rs78843072
NM_004415.2(DSP):c.7734C>T (p.Ser2578=) rs28763970
NM_004415.2(DSP):c.7916G>A (p.Arg2639Gln) rs116888866
NM_004415.2(DSP):c.8019C>T (p.Asp2673=) rs144275591
NM_004415.2(DSP):c.8117_8119delAGA (p.Lys2706del) rs397516962
NM_004415.2(DSP):c.8175C>A (p.Arg2725=) rs11558731