ClinVar Miner

Variants with conflicting interpretations studied for Cardiomyopathy

Coded as:
Minimum review status of the submission for Cardiomyopathy: Y axis collection method of the submission for Cardiomyopathy:
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
818 758 4 888 652 3 114 1375

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
Cardiomyopathy pathogenic likely pathogenic uncertain significance likely benign benign risk factor other
pathogenic 0 25 5 1 1 0 0
likely pathogenic 34 1 21 0 0 0 0
uncertain significance 33 55 3 246 47 0 0
likely benign 7 3 273 0 321 2 1
benign 1 2 157 560 0 0 0

Condition to condition summary #

Total conditions: 164
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 0 901 1 498 272 0 15 748
Hypertrophic cardiomyopathy 0 209 0 175 149 0 11 332
Dilated Cardiomyopathy, Dominant 0 86 1 167 147 0 0 313
not provided 0 499 3 112 161 1 33 296
Cardiovascular phenotype 0 704 1 181 101 0 10 291
Arrhythmogenic right ventricular cardiomyopathy 0 49 0 132 80 0 4 209
Limb-Girdle Muscular Dystrophy, Recessive 0 39 0 73 84 0 0 157
Hereditary myopathy with early respiratory failure 0 31 0 67 84 0 1 152
Distal myopathy Markesbery-Griggs type 0 32 0 67 84 0 0 151
Myopathy, early-onset, with fatal cardiomyopathy 0 30 0 67 84 0 0 151
Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 0 290 0 89 43 0 0 132
Catecholaminergic polymorphic ventricular tachycardia 0 78 0 83 35 0 0 108
Cardiomyopathy 2719 158 1 51 22 0 1 74
Left ventricular noncompaction cardiomyopathy 0 25 0 43 19 0 0 62
Ectodermal dysplasia skin fragility syndrome 0 26 0 35 18 0 0 53
Epidermolysis bullosa, lethal acantholytic 0 26 0 35 18 0 0 53
Skin fragility woolly hair syndrome 0 26 0 35 18 0 0 53
Primary familial hypertrophic cardiomyopathy 0 67 1 12 21 0 13 46
Primary dilated cardiomyopathy 0 35 0 19 11 0 4 34
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8 0 85 0 21 7 0 1 28
Myopathy, distal, 1 0 20 0 21 6 0 1 28
Myosin storage myopathy 0 18 0 21 6 0 0 27
Scapuloperoneal myopathy 0 17 0 21 6 0 0 27
Atrial septal defect 0 7 0 12 14 0 0 26
Arrhythmogenic right ventricular cardiomyopathy, type 9 0 48 1 15 8 0 0 24
Familial hypertrophic cardiomyopathy 14 0 36 0 11 11 0 0 22
Familial hypertrophic cardiomyopathy 4 0 30 0 10 4 0 9 22
Arrhythmogenic right ventricular cardiomyopathy, type 10 0 36 0 10 8 0 2 19
Dilated cardiomyopathy 1DD 0 18 0 10 8 0 1 18
Glycogen storage disease of heart, lethal congenital 0 16 0 8 7 0 0 15
Familial hypertrophic cardiomyopathy 1 0 19 0 8 2 0 5 14
Arrhythmogenic right ventricular cardiomyopathy, type 11 0 27 0 9 5 0 0 13
Dilated cardiomyopathy 1AA; Primary familial hypertrophic cardiomyopathy 0 29 0 6 7 0 0 13
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome 0 4 0 7 6 0 0 13
Myofibrillar myopathy, ZASP-related 0 15 0 6 4 0 4 13
Dilated cardiomyopathy 1JJ 0 10 0 8 4 0 0 12
Hypertrichotic osteochondrodysplasia 0 0 1 5 5 0 0 11
Familial atrial fibrillation 0 0 1 4 5 0 0 10
Familial restrictive cardiomyopathy 0 1 0 8 2 0 0 10
Wolff-Parkinson-White syndrome 0 3 0 5 5 0 0 10
Catecholaminergic polymorphic ventricular tachycardia type 1 0 4 0 1 6 0 1 8
Charcot-Marie-Tooth disease, type 2 0 29 0 6 2 0 0 8
Dilated cardiomyopathy 1AA 0 2 0 5 2 0 1 8
Arrhythmogenic right ventricular cardiomyopathy, type 8 0 4 0 4 3 0 1 7
Dilated cardiomyopathy 1O 0 15 0 6 1 0 0 7
Long QT syndrome 0 7 0 4 3 0 1 7
Emery-Dreifuss muscular dystrophy 0 8 0 6 0 0 0 6
Left ventricular noncompaction 10 0 1 0 0 4 0 3 6
Myofibrillar Myopathy, Dominant 0 7 0 4 2 0 0 6
Naxos disease 0 1 0 4 2 0 0 6
ANKRD1-related dilated cardiomyopathy 0 5 0 5 0 0 0 5
Arrhythmogenic right ventricular cardiomyopathy, type 5 0 16 0 4 1 0 0 5
Congenital muscular dystrophy, LMNA-related 0 7 0 5 0 0 0 5
Dilated Cardiomyopathy, Recessive 0 1 1 2 2 0 0 5
Dilated cardiomyopathy 1W 0 13 0 2 3 0 0 5
Emery-Dreifuss muscular dystrophy 1, X-linked 0 1 0 2 2 0 1 5
Fabry disease 0 3 0 1 3 1 2 5
Familial hypertrophic cardiomyopathy 12; Dilated cardiomyopathy 1M 0 5 0 1 1 0 3 5
Familial partial lipodystrophy 0 7 0 5 0 0 0 5
Hutchinson-Gilford syndrome 0 7 0 5 0 0 0 5
Lethal tight skin contracture syndrome 0 7 0 5 0 0 0 5
Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules 0 7 0 5 0 0 0 5
Mandibuloacral dysplasia 0 7 0 5 0 0 0 5
Myofibrillar myopathy 1; Muscular dystrophy, limb-girdle, type 2R 0 5 0 3 1 0 1 5
Amyloidogenic transthyretin amyloidosis 0 4 0 1 2 0 1 4
Dilated cardiomyopathy 1CC; Familial hypertrophic cardiomyopathy 20 0 9 0 1 3 0 0 4
Dilated cardiomyopathy 1S 0 5 0 1 1 0 2 4
Familial hypertrophic cardiomyopathy 2; Left ventricular noncompaction 6; Familial restrictive cardiomyopathy 3 0 14 0 2 2 0 0 4
Naxos disease; Arrhythmogenic right ventricular cardiomyopathy, type 12 0 7 0 4 0 0 0 4
Arrhythmogenic right ventricular dysplasia/cardiomyopathy 0 1 0 0 3 0 0 3
Brugada syndrome 0 5 0 1 2 0 0 3
Ciliary dyskinesia 0 1 0 2 1 0 0 3
Dilated cardiomyopathy 0 4 0 0 0 0 3 3
Dilated cardiomyopathy 1A 0 1 0 1 2 0 0 3
Familial hypertrophic cardiomyopathy 10 0 9 0 2 0 0 1 3
Familial hypertrophic cardiomyopathy 8 0 3 0 2 0 0 1 3
Inborn genetic diseases 0 3 0 0 3 0 0 3
Romano-Ward syndrome 0 0 0 1 2 0 0 3
Wolff-Parkinson-White pattern 0 2 0 0 1 0 2 3
Cardiac arrhythmia 0 3 0 2 0 0 0 2
Caudal dysgenesis syndrome 0 0 0 2 0 0 0 2
Caveolinopathy 0 0 0 1 1 0 0 2
Danon disease 0 1 0 1 2 0 0 2
Death in infancy 0 0 0 0 0 0 2 2
Delta-sarcoglycanopathy 0 2 0 2 0 0 0 2
Dilated cardiomyopathy 1EE 0 0 0 1 0 0 1 2
Dilated cardiomyopathy 1N; Primary familial hypertrophic cardiomyopathy 0 5 0 0 2 0 0 2
Familial hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5 0 6 0 1 1 0 0 2
Familial hypertrophic cardiomyopathy 7 0 0 0 1 0 1 0 2
Fukuyama congenital muscular dystrophy 0 0 1 0 1 0 0 2
Increased left ventricular wall thickness 0 1 0 1 2 0 0 2
Left ventricular noncompaction 1 0 1 0 2 0 0 0 2
Limb-Girdle Muscular Dystrophy, Dominant 0 0 0 1 1 0 0 2
Neural tube defect 0 0 0 2 0 0 0 2
Paroxysmal familial ventricular fibrillation 1 0 0 0 1 1 0 0 2
Sudden cardiac death 0 1 0 0 2 0 0 2
Total anomalous pulmonary venous return 0 4 0 2 1 0 0 2
Walker-Warburg congenital muscular dystrophy 0 3 0 1 1 0 0 2
3-Methylglutaconic aciduria type 2 0 1 0 1 0 0 0 1
Abnormal heart morphology; Sinus bradycardia; Ventricular hypertrophy; Prolonged QTc interval; Left ventricular noncompaction cardiomyopathy; Abnormality of the trabecular meshwork 0 0 0 0 1 0 0 1
Alpha-B crystallinopathy 0 1 0 0 1 0 0 1
Arrhythmia 0 1 0 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia, familial 1 0 0 0 1 0 0 0 1
Arrhythmogenic right ventricular dysplasia, familial, 2 0 1 0 0 1 0 0 1
Atrial fibrillation, familial, 12 0 0 0 0 0 0 1 1
Atrial septal defect 3 0 0 0 1 0 0 0 1
Becker muscular dystrophy 0 0 0 0 1 0 0 1
Cardiac arrest 0 3 0 1 0 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 muscular dystrophy 0 0 0 0 1 0 0 1
Dilated cardiomyopathy 1BB 0 0 0 0 0 1 0 1
Dilated cardiomyopathy 1C 0 1 0 0 0 0 1 1
Dilated cardiomyopathy 1G 0 2 0 0 0 0 1 1
Dilated cardiomyopathy 1II 0 2 0 0 1 0 0 1
Dilated cardiomyopathy 1P 0 3 0 1 0 0 0 1
Dilated cardiomyopathy 3B 0 1 0 0 1 0 0 1
Dilated cardiomyopathy with woolly hair and keratoderma; Arrhythmogenic right ventricular cardiomyopathy, type 8; Epidermolysis bullosa, lethal acantholytic; Skin fragility woolly hair syndrome; Keratosis palmoplantaris striata II; Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis 0 1 0 1 0 0 0 1
Duchenne muscular dystrophy 0 0 0 0 1 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 7, autosomal dominant 0 0 0 0 0 0 1 1
Fabry disease, cardiac variant 0 0 0 0 0 0 1 1
Familial dilated cardiomyopathy 0 5 0 0 0 0 1 1
Familial hypertrophic cardiomyopathy 11 0 0 0 1 0 0 0 1
Familial hypertrophic cardiomyopathy 14; Sudden cardiac death 0 0 0 0 0 0 1 1
Familial hypertrophic cardiomyopathy 16 0 2 0 1 0 0 0 1
Familial hypertrophic cardiomyopathy 18 0 0 0 1 0 0 0 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 1 0 0 1 0 0 1
Familial hypertrophic cardiomyopathy 2 0 1 0 0 0 0 1 1
Familial hypertrophic cardiomyopathy 20 0 0 0 0 0 0 1 1
Familial hypertrophic cardiomyopathy 23 0 1 0 0 0 0 1 1
Familial hypertrophic cardiomyopathy 6 0 1 0 1 0 0 0 1
Familial hypertrophic cardiomyopathy 9 0 2 0 1 0 0 0 1
History of neurodevelopmental disorder 0 1 0 0 1 0 0 1
Insulin resistance syndrome, type A 0 0 0 0 1 0 0 1
Keratosis palmoplantaris striata II 0 0 0 1 0 0 0 1
Left ventricular hypertrophy 0 0 0 0 0 0 1 1
Left ventricular noncompaction 6 0 3 0 0 1 0 0 1
Limb-girdle muscular dystrophy 0 1 0 0 0 0 1 1
Limb-girdle muscular dystrophy, type 1C 0 0 0 0 0 0 1 1
Limb-girdle muscular dystrophy, type 2F 0 6 0 1 0 0 0 1
Limb-girdle muscular dystrophy, type 2J 0 1 0 1 0 0 0 1
Long QT syndrome 2/9, digenic 0 0 0 0 0 0 1 1
Long QT syndrome 9 0 0 0 0 1 0 1 1
MYH7-Related Disorders 0 0 0 0 0 0 1 1
Monogenic diabetes 0 0 0 1 0 0 0 1
Myocardial infarction 0 0 0 1 0 0 0 1
Myofibrillar myopathy 0 0 0 0 0 0 1 1
Myofibrillar myopathy 1 0 6 0 1 0 0 0 1
Nemaline Myopathy, Recessive 0 0 0 1 1 0 0 1
PRKAG2 cardiac syndrome 0 0 0 1 0 0 0 1
Paroxysmal familial ventricular fibrillation 0 0 0 0 1 0 0 1
Partial lipodystrophy, Dunnigan 0 0 0 0 1 0 0 1
Posterior polar cataract 0 1 0 0 1 0 0 1
Primary dilated cardiomyopathy; Migraine; Hemiplegia 0 0 0 0 1 0 0 1
Progressive familial heart block 0 0 0 0 1 0 0 1
Right ventricular cardiomyopathy 0 0 0 1 0 0 1 1
Rippling muscle disease 2 0 0 0 0 0 0 1 1
Scapuloperoneal weakness 0 6 0 1 0 0 0 1
Sick sinus syndrome 0 0 0 0 1 0 0 1
Spinocerebellar ataxia, autosomal recessive 8; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 0 0 0 0 1 0 0 1
Sudden cardiac death; Cardiac arrest 0 0 0 0 1 0 0 1
Variant of unknown significance 0 0 0 0 1 0 0 1
Ventricular tachycardia, catecholaminergic polymorphic, 2 0 6 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 1375
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HGVS dbSNP
NM_000116.3(TAZ):c.110-6C>T rs782099193
NM_000116.4(TAZ):c.675G>A (p.Pro225=) rs201046790
NM_000117.2(EMD):c.144C>T (p.Leu48=) rs200537612
NM_000117.2(EMD):c.272A>G (p.Asn91Ser) rs137977232
NM_000117.2(EMD):c.396C>T (p.His132=) rs145985318
NM_000117.2(EMD):c.428C>T (p.Ser143Phe) rs139983160
NM_000117.2(EMD):c.470G>A (p.Arg157Gln) rs148515772
NM_000169.2(GLA):c.-8C>G rs371291716
NM_000169.2(GLA):c.123C>T (p.Thr41=) rs137902198
NM_000169.2(GLA):c.295del (p.Gln99Lysfs)
NM_000169.2(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.613C>A (p.Pro205Thr) rs397515870
NM_000169.2(GLA):c.639+919G>A rs199473684
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965
NM_000256.3(MYBPC3):c.1038C>T (p.Arg346=) rs758016271
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.1351+1G>A rs727503204
NM_000256.3(MYBPC3):c.1358dupC (p.Val454Cysfs) rs727503203
NM_000256.3(MYBPC3):c.1371G>A (p.Thr457=)
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534
NM_000256.3(MYBPC3):c.1458-7C>T rs397515904
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly) rs373164247
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.1566G>A (p.Ala522=) rs376041792
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422
NM_000256.3(MYBPC3):c.1720C>A (p.Arg574=) rs61897383
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg) rs199728019
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.1827C>G (p.Ala609=) rs535853707
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555
NM_000256.3(MYBPC3):c.1841A>G (p.Tyr614Cys) rs727503194
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.1869C>T (p.Cys623=) rs397515932
NM_000256.3(MYBPC3):c.2149-5C>T rs36211722
NM_000256.3(MYBPC3):c.2381C>T (p.Pro794Leu) rs730880565
NM_000256.3(MYBPC3):c.2441_2443delAGA (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2460G>A (p.Arg820=) rs532996422
NM_000256.3(MYBPC3):c.246T>C (p.Ile82=) rs372502369
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.2534G>A (p.Arg845His) rs730880568
NM_000256.3(MYBPC3):c.2547C>T (p.Val849=) rs3729953
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097
NM_000256.3(MYBPC3):c.2618C>T (p.Pro873Leu) rs371401403
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470
NM_000256.3(MYBPC3):c.2800C>T (p.Leu934=) rs367980215
NM_000256.3(MYBPC3):c.284T>C (p.Ile95Thr) rs727504945
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380
NM_000256.3(MYBPC3):c.2877G>A (p.Thr959=) rs727503181
NM_000256.3(MYBPC3):c.2904G>C (p.Leu968=) rs747974933
NM_000256.3(MYBPC3):c.2905+5G>T rs193922381
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.299_308delCAGAGCCCAT (p.Ala100Glyfs)
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.3107G>A (p.Arg1036His) rs374255381
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met) rs371061770
NM_000256.3(MYBPC3):c.3285G>A (p.Thr1095=) rs367927327
NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=) rs1052373
NM_000256.3(MYBPC3):c.3315C>A (p.Ala1105=) rs200372325
NM_000256.3(MYBPC3):c.3326C>T (p.Thr1109Ile) rs397516016
NM_000256.3(MYBPC3):c.3407_3409delACT (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) rs397516028
NM_000256.3(MYBPC3):c.3628-6T>C rs1057520329
NM_000256.3(MYBPC3):c.362C>T (p.Pro121Leu) rs551888783
NM_000256.3(MYBPC3):c.3672C>T (p.Asp1224=) rs368221517
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636
NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=) rs200162906
NM_000256.3(MYBPC3):c.3741C>T (p.Asp1247=) rs543376073
NM_000256.3(MYBPC3):c.3776delA (p.Gln1259Argfs) rs727503166
NM_000256.3(MYBPC3):c.405A>G (p.Lys135=) rs727504318
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.492C>T (p.Gly164=) rs3218719
NM_000256.3(MYBPC3):c.501C>T (p.Thr167=) rs397516054
NM_000256.3(MYBPC3):c.506-12delC rs11570050
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766
NM_000256.3(MYBPC3):c.537C>T (p.Ala179=) rs11570051
NM_000256.3(MYBPC3):c.551dupT (p.Lys185Glufs) rs397516059
NM_000256.3(MYBPC3):c.558G>T (p.Pro186=) rs370962887
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499
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.706A>G (p.Ser236Gly) rs3729989
NM_000256.3(MYBPC3):c.786C>T (p.Thr262=) rs11570058
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.82G>A (p.Val28Met) rs776834755
NM_000256.3(MYBPC3):c.897delG (p.Lys301Argfs) rs1555122928
NM_000256.3(MYBPC3):c.906-7G>T rs397516079
NM_000256.3(MYBPC3):c.909C>T (p.Asp303=) rs200713257
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.2332G>A (p.Asp778Asn) rs730880895
NM_000257.2(MYH7):c.2845G>A (p.Glu949Lys) rs121913629
NM_000257.2(MYH7):c.4259G>A (p.Arg1420Gln) rs397516207
NM_000257.2(MYH7):c.4399C>G (p.Leu1467Val) rs397516214
NM_000257.2(MYH7):c.4557C>T (p.Ser1519=) rs150552664
NM_000257.2(MYH7):c.4908C>T (p.Ala1636=) rs150241539
NM_000257.2(MYH7):c.5380C>G (p.Gln1794Glu) rs397516247
NM_000257.3(MYH7):c.1000-7C>T rs200129563
NM_000257.3(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.3(MYH7):c.1106G>C (p.Arg369Pro) rs397516089
NM_000257.3(MYH7):c.1139-14C>T rs397516091
NM_000257.3(MYH7):c.1191G>A (p.Lys397=) rs139506719
NM_000257.3(MYH7):c.1193G>A (p.Gly398Glu) rs730880158
NM_000257.3(MYH7):c.1322C>T (p.Thr441Met) rs121913653
NM_000257.3(MYH7):c.1324C>T (p.Arg442Cys) rs148808089
NM_000257.3(MYH7):c.1477_1478delAT (p.Met493Valfs) rs727504336
NM_000257.3(MYH7):c.1573G>A (p.Glu525Lys) rs606231324
NM_000257.3(MYH7):c.1671G>A (p.Leu557=) rs149386750
NM_000257.3(MYH7):c.1755C>T (p.Ile585=) rs201860580
NM_000257.3(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.3(MYH7):c.2069T>C (p.Met690Thr) rs397516128
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.240C>T (p.Asn80=) rs200493975
NM_000257.3(MYH7):c.2526T>C (p.Ser842=) rs554560162
NM_000257.3(MYH7):c.2711G>A (p.Arg904His) rs397516165
NM_000257.3(MYH7):c.2714G>C (p.Cys905Ser) rs730880757
NM_000257.3(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.3(MYH7):c.2890G>C (p.Val964Leu) rs45496496
NM_000257.3(MYH7):c.2923-6C>T rs587781082
NM_000257.3(MYH7):c.3235C>T (p.Arg1079Trp) rs192722540
NM_000257.3(MYH7):c.3621C>T (p.Ile1207=) rs529700838
NM_000257.3(MYH7):c.3682C>T (p.Leu1228=) rs560995739
NM_000257.3(MYH7):c.3960G>A (p.Glu1320=) rs147797612
NM_000257.3(MYH7):c.3993C>T (p.His1331=) rs200288088
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.4520-3C>T rs549509054
NM_000257.3(MYH7):c.4618C>T (p.Leu1540=) rs368734580
NM_000257.3(MYH7):c.4644+3G>A rs397516226
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.4954G>T (p.Asp1652Tyr) rs397516233
NM_000257.3(MYH7):c.4992C>A (p.Asn1664Lys) rs763538103
NM_000257.3(MYH7):c.5361A>G (p.Glu1787=) rs201171029
NM_000257.3(MYH7):c.5562G>A (p.Thr1854=) rs368706722
NM_000257.3(MYH7):c.611G>T (p.Arg204Leu) rs397516260
NM_000257.3(MYH7):c.633G>A (p.Pro211=) rs587781087
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.1157A>G (p.Tyr386Cys) rs727503269
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.2162+4G>A rs145738465
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.2514G>A (p.Pro838=) rs45560638
NM_000257.4(MYH7):c.261C>T (p.Ile87=) rs148560996
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716
NM_000257.4(MYH7):c.2859C>T (p.Asp953=) rs370800700
NM_000257.4(MYH7):c.2907C>T (p.His969=) rs142573531
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=) rs138294643
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.3382G>A (p.Ala1128Thr) rs199552354
NM_000257.4(MYH7):c.3402G>A (p.Lys1134=) rs587781083
NM_000257.4(MYH7):c.3474C>T (p.Ser1158=) rs587780395
NM_000257.4(MYH7):c.3603C>G (p.Ala1201=) rs201576345
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) rs574005462
NM_000257.4(MYH7):c.3777C>T (p.His1259=) rs149103761
NM_000257.4(MYH7):c.3853+7C>T rs45467397
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.4377G>T (p.Lys1459Asn) rs201307101
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=) rs61737803
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.4689G>A (p.Leu1563=) rs770477774
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=) rs7140196
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr) rs141122361
NM_000257.4(MYH7):c.4974C>T (p.Asp1658=) rs374289523
NM_000257.4(MYH7):c.5394C>T (p.Asp1798=) rs777053791
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) rs397516248
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.5790+9C>G rs1057521992
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.788T>C (p.Ile263Thr) rs397516269
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.130-14G>T rs192329378
NM_000258.2(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000258.2(MYL3):c.235G>A (p.Val79Ile) rs150634297
NM_000258.2(MYL3):c.281G>A (p.Arg94His) rs199474703
NM_000258.2(MYL3):c.411G>T (p.Leu137=) rs2233265
NM_000258.2(MYL3):c.466G>T (p.Val156Leu) rs199474707
NM_000258.2(MYL3):c.532G>A (p.Asp178Asn) rs145520567
NM_000258.2(MYL3):c.69C>T (p.Pro23=) rs2233264
NM_000258.2(MYL3):c.81T>C (p.Pro27=) rs147584015
NM_000258.2(MYL3):c.92G>A (p.Arg31His) rs199639940
NM_000335.4(SCN5A):c.2436+12G>A rs41312419
NM_000337.5(SGCD):c.*2A>C rs200757725
NM_000337.5(SGCD):c.105G>C (p.Leu35=) rs193922392
NM_000337.5(SGCD):c.144G>C (p.Val48=) rs372152495
NM_000337.5(SGCD):c.213G>A (p.Arg71=) rs74846539
NM_000337.5(SGCD):c.294+8T>C rs11748588
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.12-7delC rs370714315
NM_000363.4(TNNI3):c.139T>C (p.Leu47=) rs587780967
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.244C>T (p.Pro82Ser) rs77615401
NM_000363.4(TNNI3):c.25-4C>T rs202086705
NM_000363.4(TNNI3):c.25-8T>A rs3729836
NM_000363.4(TNNI3):c.340A>G (p.Ile114Val) rs730881070
NM_000363.4(TNNI3):c.373-10G= rs7252610
NM_000363.4(TNNI3):c.384G>A (p.Leu128=) rs373130533
NM_000363.4(TNNI3):c.407G>A (p.Arg136Gln) rs730881069
NM_000363.4(TNNI3):c.422G>A (p.Arg141Gln) rs397516347
NM_000363.4(TNNI3):c.509G>A (p.Arg170Gln) rs727503503
NM_000363.4(TNNI3):c.537G>A (p.Glu179=) rs3729841
NM_000363.4(TNNI3):c.550-10C>T rs201240150
NM_000363.4(TNNI3):c.557G>A (p.Arg186Gln) rs397516357
NM_000363.4(TNNI3):c.575G>A (p.Arg192His) rs104894729
NM_000363.4(TNNI3):c.586G>A (p.Asp196Asn) rs104894727
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) rs200754249
NM_000364.3(TNNT2):c.68-5_68-3delinsTT rs397516362
NM_000364.3(TNNT2):c.753G>T (p.Glu251Asp) rs45466197
NM_000364.3(TNNT2):c.853C>T (p.Arg285Cys) rs121964857
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.70-7C>T rs587780990
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.243G>T (p.Val81=) rs368851472
NM_000432.3(MYL2):c.279G>A (p.Ala93=) rs28645088
NM_000432.3(MYL2):c.33G>A (p.Gly11=) rs199742269
NM_000432.3(MYL2):c.4-14C>T rs12301951
NM_000432.3(MYL2):c.401A>C (p.Glu134Ala) rs143139258
NM_000432.3(MYL2):c.456C>T (p.Tyr152=) rs199815885
NM_000432.3(MYL2):c.484G>A (p.Gly162Arg) rs199474814
NM_001001430.1(TNNT2):c.53-11_53-7delCTTCT rs45533739
NM_001001430.2(TNNT2):c.170-11A>G rs368658464
NM_001001430.2(TNNT2):c.170-4C>G rs397516448
NM_001001430.2(TNNT2):c.207G>A (p.Ser69=) rs3729845
NM_001001430.2(TNNT2):c.318C>T (p.Ile106=) rs3729547
NM_001001430.2(TNNT2):c.382-6_382-4delCCT rs397516462
NM_001001430.2(TNNT2):c.422G>A (p.Arg141Gln) rs730881101
NM_001001430.2(TNNT2):c.430C>T (p.Arg144Trp) rs483352832
NM_001001430.2(TNNT2):c.444G>C (p.Arg148=) rs35914325
NM_001001430.2(TNNT2):c.492C>T (p.Asn164=) rs483352833
NM_001001430.2(TNNT2):c.52+7G>A rs374443596
NM_001001430.2(TNNT2):c.580-10C>T rs375547142
NM_001001430.2(TNNT2):c.613C>T (p.Arg205Trp) rs45586240
NM_001001430.2(TNNT2):c.63T>G (p.Val21=) rs397516477
NM_001001430.2(TNNT2):c.690-4G>T rs201753429
NM_001001430.2(TNNT2):c.758A>G (p.Lys253Arg) rs3730238
NM_001001430.2(TNNT2):c.773A>T (p.Lys258Ile) rs397516482
NM_001001430.2(TNNT2):c.780+5G>A rs730881113
NM_001001430.2(TNNT2):c.807C>T (p.Asn269=) rs376923877
NM_001001430.2(TNNT2):c.833G>C (p.Arg278Pro) rs397516484
NM_001005242.2(PKP2):c.156G>A (p.Lys52=) rs201210997
NM_001005242.2(PKP2):c.2018C>T (p.Pro673Leu) rs144018320
NM_001018005.1(TPM1):c.27G>A (p.Gln9=) rs397516365
NM_001018005.1(TPM1):c.522C>T (p.Ser174=) rs200173919
NM_001018005.1(TPM1):c.564-11G>A rs532254032
NM_001018005.1(TPM1):c.639+13delG rs397516488
NM_001018005.1(TPM1):c.644C>T (p.Ser215Leu) rs199476316
NM_001018005.1(TPM1):c.712C>T (p.Arg238Trp) rs397516386
NM_001035.2(RYR2):c.1006-12C>T rs367998175
NM_001035.2(RYR2):c.10155A>G (p.Leu3385=) rs543120030
NM_001035.2(RYR2):c.10221G>A (p.Ser3407=) rs373769240
NM_001035.2(RYR2):c.10231-4T>C rs117180147
NM_001035.2(RYR2):c.10231-5C>T rs186326951
NM_001035.2(RYR2):c.10254C>T (p.Asn3418=) rs138073811
NM_001035.2(RYR2):c.10324-4A>G rs72751287
NM_001035.2(RYR2):c.10452G>T (p.Gly3484=) rs199498105
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.10641G>A (p.Thr3547=) rs144256966
NM_001035.2(RYR2):c.10699C>T (p.Arg3567Cys) rs559154874
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.1108C>T (p.Leu370=) rs534621173
NM_001035.2(RYR2):c.11092-6A>T rs397516501
NM_001035.2(RYR2):c.1110A>G (p.Leu370=) rs150705689
NM_001035.2(RYR2):c.11246-11delA rs397516503
NM_001035.2(RYR2):c.1134C>T (p.Asp378=) rs193922621
NM_001035.2(RYR2):c.11496C>T (p.Asp3832=) rs397516505
NM_001035.2(RYR2):c.11835C>T (p.Val3945=) rs78939657
NM_001035.2(RYR2):c.11934G>A (p.Met3978Ile) rs794728826
NM_001035.2(RYR2):c.11963-11T>C rs790889
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.1243A>G (p.Thr415Ala) rs545357663
NM_001035.2(RYR2):c.12492G>A (p.Gln4164=) rs377293019
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.13260+14A>G rs141528541
NM_001035.2(RYR2):c.13326C>T (p.Ala4442=) rs768161152
NM_001035.2(RYR2):c.13329-3T>C rs542440592
NM_001035.2(RYR2):c.13528G>A (p.Ala4510Thr) rs397516510
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.13740G>A (p.Thr4580=) rs115854664
NM_001035.2(RYR2):c.13783-6A>G rs790901
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.14101A>G (p.Ile4701Val) rs755065507
NM_001035.2(RYR2):c.14299-12A>G rs41267519
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.14703G>C (p.Val4901=) rs201371633
NM_001035.2(RYR2):c.14809-15C>G rs790897
NM_001035.2(RYR2):c.1519G>A (p.Val507Ile) rs16835270
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.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.2204-7C>G rs147479514
NM_001035.2(RYR2):c.2301G>T (p.Ser767=) rs117588730
NM_001035.2(RYR2):c.2397-6C>T rs78165942
NM_001035.2(RYR2):c.2574G>A (p.Thr858=) rs367992907
NM_001035.2(RYR2):c.2630A>C (p.His877Pro) rs561321743
NM_001035.2(RYR2):c.2643A>C (p.Ile881=) rs751869107
NM_001035.2(RYR2):c.2711A>G (p.Tyr904Cys) rs201131315
NM_001035.2(RYR2):c.2719-4T>A rs397516523
NM_001035.2(RYR2):c.2760G>A (p.Glu920=) rs186181155
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.3320C>T (p.Thr1107Met) rs200236750
NM_001035.2(RYR2):c.3372G>A (p.Pro1124=) rs368017980
NM_001035.2(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962
NM_001035.2(RYR2):c.3407C>T (p.Ala1136Val) rs72549415
NM_001035.2(RYR2):c.3423+6T>G rs1057521957
NM_001035.2(RYR2):c.3599-9delT rs11331089
NM_001035.2(RYR2):c.3720C>T (p.Ala1240=) rs750335699
NM_001035.2(RYR2):c.375T>C (p.Tyr125=) rs397516528
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.4069G>C (p.Asp1357His) rs193922626
NM_001035.2(RYR2):c.4094C>T (p.Ala1365Val) rs373261115
NM_001035.2(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512
NM_001035.2(RYR2):c.4445G>A (p.Arg1482His) rs373024059
NM_001035.2(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676
NM_001035.2(RYR2):c.4488C>T (p.Pro1496=) rs370082063
NM_001035.2(RYR2):c.4597-11delA rs3841805
NM_001035.2(RYR2):c.4605G>A (p.Pro1535=) rs201916326
NM_001035.2(RYR2):c.463+10T>C rs193922627
NM_001035.2(RYR2):c.464-8A>C rs10925391
NM_001035.2(RYR2):c.4652A>G (p.Asn1551Ser) rs185237690
NM_001035.2(RYR2):c.4684-11C>T rs7546045
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.4989C>T (p.Ala1663=) rs147060179
NM_001035.2(RYR2):c.5001T>C (p.Leu1667=) rs397516537
NM_001035.2(RYR2):c.5154G>A (p.Arg1718=) rs114534505
NM_001035.2(RYR2):c.5373C>A (p.Thr1791=) rs765283048
NM_001035.2(RYR2):c.5400A>G (p.Lys1800=) rs3820216
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.576+7G>C rs10925392
NM_001035.2(RYR2):c.615C>T (p.Ala205=) rs112680790
NM_001035.2(RYR2):c.6337G>A (p.Val2113Met) rs186906598
NM_001035.2(RYR2):c.6555+6G>A rs372661934
NM_001035.2(RYR2):c.6689-12T>C rs370972311
NM_001035.2(RYR2):c.6738G>T (p.Ser2246=) rs368207198
NM_001035.2(RYR2):c.677-11T>A rs10754602
NM_001035.2(RYR2):c.684C>T (p.Leu228=) rs72549417
NM_001035.2(RYR2):c.6906T>C (p.Leu2302=) rs707189
NM_001035.2(RYR2):c.6928+4G>A rs79862521
NM_001035.2(RYR2):c.7038A>C (p.Ala2346=) rs116601686
NM_001035.2(RYR2):c.7222-12T>C rs540308433
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.7488C>T (p.Leu2496=) rs143906555
NM_001035.2(RYR2):c.7493C>T (p.Ala2498Val) rs374191985
NM_001035.2(RYR2):c.7542G>A (p.Leu2514=) rs371088367
NM_001035.2(RYR2):c.7608T>C (p.Ala2536=) rs367987360
NM_001035.2(RYR2):c.7806C>T (p.His2602=) rs684923
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.8437-7dupG rs148246251
NM_001035.2(RYR2):c.8448C>T (p.Asp2816=) rs144876996
NM_001035.2(RYR2):c.849-8T>C rs16835237
NM_001035.2(RYR2):c.8736G>A (p.Leu2912=) rs762521873
NM_001035.2(RYR2):c.8831-9A>C rs187977513
NM_001035.2(RYR2):c.8873A>G (p.Gln2958Arg) rs34967813
NM_001035.2(RYR2):c.8913T>C (p.Ile2971=) rs755520825
NM_001035.2(RYR2):c.892C>T (p.Arg298Cys) rs551099887
NM_001035.2(RYR2):c.9318T>G (p.Ser3106=) rs2797436
NM_001035.2(RYR2):c.9449+8T>A rs60777199
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.9655G>A (p.Val3219Met) rs371147744
NM_001035.2(RYR2):c.9666C>T (p.Ala3222=) rs116442127
NM_001035.2(RYR2):c.9867G>A (p.Gly3289=) rs190537182
NM_001079802.1(FKTN):c.1336A>G (p.Asn446Asp) rs41313301
NM_001079802.1(FKTN):c.166-6A>G rs41277795
NM_001080114.1(LDB3):c.494C>T (p.Ala165Val) rs121908334
NM_001080114.1(LDB3):c.781G>A (p.Ala261Thr) rs45539535
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.306G>A (p.Val102=) rs201715521
NM_001080116.1(LDB3):c.440C>T (p.Ala147Val) rs281865143
NM_001080116.1(LDB3):c.611A>G (p.Lys204Arg) rs34423165
NM_001080116.1(LDB3):c.802C>T (p.Arg268Cys) rs121908335
NM_001103.3(ACTN2):c.1104G>A (p.Val368=) rs397516563
NM_001103.3(ACTN2):c.1298C>T (p.Ser433Leu) rs143749154
NM_001103.3(ACTN2):c.1341C>T (p.Phe447=) rs34785693
NM_001103.3(ACTN2):c.1371C>T (p.Arg457=) rs114008185
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>C (p.Gln484His) rs200529923
NM_001103.3(ACTN2):c.1484C>T (p.Thr495Met) rs200248944
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.1932C>A (p.Ala644=) rs144680712
NM_001103.3(ACTN2):c.1975-6C>G rs201255023
NM_001103.3(ACTN2):c.1983C>T (p.Ala661=) rs372137571
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.2367+8A>G rs112714025
NM_001103.3(ACTN2):c.2568G>A (p.Pro856=) rs149554430
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.536+10C>T rs141219516
NM_001103.3(ACTN2):c.546T>C (p.Asp182=) rs34263845
NM_001103.3(ACTN2):c.705G>C (p.Val235=) rs2288599
NM_001103.3(ACTN2):c.893G>A (p.Arg298His) rs142482143
NM_001103.3(ACTN2):c.918C>T (p.Asn306=) rs148646265
NM_001105206.2(LAMA4):c.264C>T (p.Ser88=) rs201152817
NM_001134363.1(RBM20):c.2303G>C (p.Ser768=) rs1417635
NM_001134363.1(RBM20):c.57G>T (p.Pro19=) rs781263787
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.1378T>C (p.Leu460=) rs374014662
NM_001134363.2(RBM20):c.1881-3C>T rs138436392
NM_001134363.2(RBM20):c.1914G>A (p.Pro638=) rs74339620
NM_001134363.2(RBM20):c.1922G>A (p.Arg641Gln) rs143785916
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.2116C>A (p.Pro706Thr) rs373797219
NM_001134363.2(RBM20):c.2737G>A (p.Glu913Lys) rs397516607
NM_001134363.2(RBM20):c.3115C>T (p.Pro1039Ser) rs727503392
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.3373G>A (p.Glu1125Lys) rs116908219
NM_001134363.2(RBM20):c.3452-10C>T rs60618533
NM_001134363.2(RBM20):c.3574-6C>G rs762069628
NM_001134363.2(RBM20):c.3574-7T>G rs397516616
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.529A>T (p.Thr177Ser) rs397516621
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.2662G>A (p.Asp888Asn) rs201370621
NM_001232.3(CASQ2):c.1005T>C (p.Asn335=) rs28730712
NM_001232.3(CASQ2):c.1014+9C>T rs77775029
NM_001232.3(CASQ2):c.1185_1187delCGA (p.Asp398del) rs397516641
NM_001232.3(CASQ2):c.198G>A (p.Thr66=) rs74114618
NM_001232.3(CASQ2):c.226G>A (p.Val76Met) rs10801999
NM_001232.3(CASQ2):c.731A>G (p.His244Arg) rs28730716
NM_001256850.1(TTN):c.10049C>T (p.Pro3350Leu) rs139504522
NM_001256850.1(TTN):c.102777A>G (p.Glu34259=) rs55832587
NM_001256850.1(TTN):c.102830G>A (p.Cys34277Tyr) rs193212275
NM_001256850.1(TTN):c.10555G>A (p.Val3519Met) rs397517825
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.11702T>C (p.Ile3901Thr) rs374631591
NM_001256850.1(TTN):c.12933C>T (p.Ser4311=) rs183328495
NM_001256850.1(TTN):c.1537-4G>A rs56006378
NM_001256850.1(TTN):c.15600G>A (p.Ser5200=) rs376037792
NM_001256850.1(TTN):c.156C>T (p.Pro52=) rs72647842
NM_001256850.1(TTN):c.17038G>A (p.Ala5680Thr) rs72648946
NM_001256850.1(TTN):c.17456G>A (p.Arg5819Gln) rs117551279
NM_001256850.1(TTN):c.18010A>G (p.Ile6004Val) rs145204073
NM_001256850.1(TTN):c.1938+10G>C rs190935632
NM_001256850.1(TTN):c.19821G>A (p.Lys6607=) rs369993514
NM_001256850.1(TTN):c.23244C>T (p.Ser7748=) rs182425565
NM_001256850.1(TTN):c.24183A>G (p.Ala8061=) rs371819104
NM_001256850.1(TTN):c.25104C>T (p.Ser8368=) rs727505250
NM_001256850.1(TTN):c.25731G>A (p.Pro8577=) rs142812510
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.28590C>T (p.Phe9530=) rs56812642
NM_001256850.1(TTN):c.29230A>C (p.Lys9744Gln) rs184153985
NM_001256850.1(TTN):c.29560+3G>A rs563582627
NM_001256850.1(TTN):c.30856G>A (p.Val10286Ile) rs139790668
NM_001256850.1(TTN):c.31142G>A (p.Arg10381Gln) rs200161147
NM_001256850.1(TTN):c.32019_32036del18 (p.Glu10673_Tyr10678del) rs766756026
NM_001256850.1(TTN):c.32108A>G (p.Tyr10703Cys) rs72650035
NM_001256850.1(TTN):c.33553A>G (p.Ile11185Val) rs752903377
NM_001256850.1(TTN):c.33915G>A (p.Pro11305=) rs369095270
NM_001256850.1(TTN):c.35228_35245del18 (p.Ile11743_Glu11748del) rs139512154
NM_001256850.1(TTN):c.35472A>G (p.Ile11824Met) rs766145596
NM_001256850.1(TTN):c.35485+7_35485+10dup rs397517560
NM_001256850.1(TTN):c.35664A>G (p.Glu11888=) rs370597107
NM_001256850.1(TTN):c.37008T>C (p.Tyr12336=) rs369128249
NM_001256850.1(TTN):c.3913G>T (p.Gly1305Trp) rs199889888
NM_001256850.1(TTN):c.39154C>T (p.Arg13052Cys) rs200445568
NM_001256850.1(TTN):c.39349C>T (p.Arg13117Ter) rs140743001
NM_001256850.1(TTN):c.39358C>T (p.Pro13120Ser) rs192766485
NM_001256850.1(TTN):c.426C>T (p.Ala142=) rs56137037
NM_001256850.1(TTN):c.43471C>T (p.Arg14491Cys) rs2303830
NM_001256850.1(TTN):c.43537+8C>T rs2288565
NM_001256850.1(TTN):c.43586A>G (p.Asn14529Ser) rs370809363
NM_001256850.1(TTN):c.45075T>C (p.Asn15025=) rs376917681
NM_001256850.1(TTN):c.45440T>C (p.Ile15147Thr) rs397517599
NM_001256850.1(TTN):c.46816+1G>C rs727504799
NM_001256850.1(TTN):c.48337T>C (p.Phe16113Leu) rs397517612
NM_001256850.1(TTN):c.49225C>T (p.Arg16409Cys) rs55734111
NM_001256850.1(TTN):c.52019C>T (p.Ala17340Val) rs397517627
NM_001256850.1(TTN):c.54393G>A (p.Pro18131=) rs377180286
NM_001256850.1(TTN):c.56953C>T (p.Arg18985Ter) rs72646846
NM_001256850.1(TTN):c.57255T>C (p.Thr19085=) rs72646847
NM_001256850.1(TTN):c.59037T>A (p.Val19679=) rs397517655
NM_001256850.1(TTN):c.60681T>C (p.Ala20227=) rs200825430
NM_001256850.1(TTN):c.63526C>A (p.Arg21176=) rs371678190
NM_001256850.1(TTN):c.63526C>T (p.Arg21176Ter) rs371678190
NM_001256850.1(TTN):c.64207C>T (p.Pro21403Ser) rs55980498
NM_001256850.1(TTN):c.65179A>G (p.Ile21727Val) rs367914610
NM_001256850.1(TTN):c.67664G>A (p.Arg22555His) rs200317412
NM_001256850.1(TTN):c.68411C>T (p.Thr22804Ile) rs377334665
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.69972A>C (p.Gln23324His) rs201512527
NM_001256850.1(TTN):c.70518A>G (p.Lys23506=) rs56151652
NM_001256850.1(TTN):c.70581T>G (p.Ser23527Arg) rs375204371
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.72890G>C (p.Trp24297Ser) rs186681106
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.76549C>G (p.Pro25517Ala) rs200771189
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.77015G>A (p.Gly25672Glu) rs199670463
NM_001256850.1(TTN):c.77566G>A (p.Gly25856Arg) rs201158906
NM_001256850.1(TTN):c.78358G>A (p.Val26120Ile) rs371788070
NM_001256850.1(TTN):c.79538C>T (p.Pro26513Leu) rs200350579
NM_001256850.1(TTN):c.80483C>G (p.Ser26828Cys) rs202040332
NM_001256850.1(TTN):c.80948G>A (p.Arg26983His) rs538641703
NM_001256850.1(TTN):c.81194G>A (p.Arg27065Gln) rs199788826
NM_001256850.1(TTN):c.81378G>A (p.Lys27126=) rs56310931
NM_001256850.1(TTN):c.82188G>A (p.Glu27396=) rs374902148
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.86634T>C (p.Asp28878=) rs202185465
NM_001256850.1(TTN):c.86720C>T (p.Ala28907Val) rs553668520
NM_001256850.1(TTN):c.86916dupA (p.Val28973Serfs) rs730880365
NM_001256850.1(TTN):c.87014A>G (p.Asn29005Ser) rs72648245
NM_001256850.1(TTN):c.87776A>G (p.Asn29259Ser) rs186234393
NM_001256850.1(TTN):c.89058C>G (p.Val29686=) rs370894846
NM_001256850.1(TTN):c.89700C>T (p.Tyr29900=) rs376539252
NM_001256850.1(TTN):c.9077A>T (p.Asn3026Ile) rs11900987
NM_001256850.1(TTN):c.9150A>G (p.Thr3050=) rs72647886
NM_001256850.1(TTN):c.92569+1G>C rs727505319
NM_001256850.1(TTN):c.92682T>G (p.Ile30894Met) rs760676361
NM_001256850.1(TTN):c.94907G>A (p.Gly31636Glu) rs397517781
NM_001256850.1(TTN):c.95046C>T (p.Ile31682=) rs375403439
NM_001256850.1(TTN):c.95249-10dupT rs397517782
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.83315A>T rs578191491
NM_001267550.2(TTN):c.100047A>C (p.Thr33349=) rs727504698
NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=) rs367732133
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=) rs55806007
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=) rs6725673
NM_001267550.2(TTN):c.107961T>C (p.His35987=) rs377439315
NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser) rs72648922
NM_001267550.2(TTN):c.13282G>A (p.Glu4428Lys) rs528766978
NM_001267550.2(TTN):c.13782G>A (p.Gln4594=) rs188071134
NM_001267550.2(TTN):c.14002A>G (p.Thr4668Ala) rs758920941
NM_001267550.2(TTN):c.14004C>T (p.Thr4668=) rs201200682
NM_001267550.2(TTN):c.17741-9A>G rs72648944
NM_001267550.2(TTN):c.18075C>T (p.Pro6025=) rs557350005
NM_001267550.2(TTN):c.18561G>A (p.Ala6187=) rs377556808
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile) rs149131555
NM_001267550.2(TTN):c.19191G>A (p.Thr6397=) rs140495148
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser) rs116572520
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=) rs201155967
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=) rs200088963
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) rs140003804
NM_001267550.2(TTN):c.28187C>T (p.Pro9396Leu) rs373065549
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys) rs375266859
NM_001267550.2(TTN):c.32554+5_32554+6delAT rs771419718
NM_001267550.2(TTN):c.33340+10T>C rs72650039
NM_001267550.2(TTN):c.40335C>T (p.Leu13445=) rs727504696
NM_001267550.2(TTN):c.42219C>T (p.Phe14073=) rs150612172
NM_001267550.2(TTN):c.43565A>G (p.His14522Arg) rs374085402
NM_001267550.2(TTN):c.4646-7C>A rs758516007
NM_001267550.2(TTN):c.46697-5A>G rs182706301
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.54208A>C (p.Arg18070=) rs138240658
NM_001267550.2(TTN):c.56910C>T (p.Gly18970=) rs148299739
NM_001267550.2(TTN):c.58869A>G (p.Lys19623=) rs191066933
NM_001267550.2(TTN):c.59344+3G>A rs142095604
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=) rs202017608
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.64811G>A (p.Arg21604Gln) rs188996850
NM_001267550.2(TTN):c.65319T>C (p.Thr21773=) rs746956869
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.69412+10G>C rs72646883
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.71602C>T (p.Arg23868Ter) rs397517689
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.72624A>G (p.Pro24208=) rs56293906
NM_001267550.2(TTN):c.74331C>T (p.Asp24777=) rs368530092
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.78068T>C (p.Ile26023Thr) rs572384303
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.81527G>T (p.Arg27176Leu) rs199726308
NM_001267550.2(TTN):c.82575G>A (p.Thr27525=) rs11896779
NM_001267550.2(TTN):c.84893G>A (p.Arg28298Gln) rs187270666
NM_001267550.2(TTN):c.86821+2T>A rs397517735
NM_001267550.2(TTN):c.88611T>G (p.Pro29537=) rs555380931
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=) rs370479059
NM_001267550.2(TTN):c.90764_90766delGAG (p.Gly30255del) rs748912340
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=) rs193022702
NM_001267550.2(TTN):c.93474C>T (p.Asp31158=) rs750803038
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=) rs200173934
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=) rs376810671
NM_001330.3(CTF1):c.120C>T (p.Tyr40=) rs8059269
NM_001330.3(CTF1):c.591C>G (p.Pro197=) rs397516652
NM_001390.4(DTNA):c.2081+14G>A rs76713874
NM_001390.4(DTNA):c.210G>A (p.Leu70=) rs117571555
NM_001885.2(CRYAB):c.152C>T (p.Pro51Leu) rs2234704
NM_001927.3(DES):c.1026C>T (p.Asn342=) rs61731508
NM_001927.3(DES):c.1375G>A (p.Val459Ile) rs73991549
NM_001927.3(DES):c.18G>A (p.Ser6=) rs199972656
NM_001927.3(DES):c.656C>T (p.Thr219Ile) rs144901249
NM_001927.3(DES):c.893C>T (p.Ser298Leu) rs62636491
NM_001927.3(DES):c.897+4_897+5delGG rs397516699
NM_001943.3(DSG2):c.1643G>A (p.Arg548His) rs551034751
NM_001943.3(DSG2):c.2234C>T (p.Thr745Met) rs727504783
NM_001943.3(DSG2):c.437G>T (p.Arg146Leu) rs113451409
NM_001943.4(DSG2):c.-1G>C rs1012160082
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.1174G>A (p.Val392Ile) rs193922639
NM_001943.4(DSG2):c.1303G>A (p.Asp435Asn) rs370509593
NM_001943.4(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380
NM_001943.4(DSG2):c.1543G>A (p.Val515Ile) rs2230235
NM_001943.4(DSG2):c.1597G>A (p.Val533Ile) rs199761749
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.1920C>T (p.Gly640=) rs775642244
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.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.3082G>A (p.Gly1028Ser) rs150864240
NM_001943.4(DSG2):c.3175T>A (p.Ser1059Thr) rs201786158
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.3295A>G (p.Thr1099Ala) rs79068489
NM_001943.4(DSG2):c.3321T>C (p.Val1107=) rs1791235
NM_001943.4(DSG2):c.391G>A (p.Ala131Thr) rs373542380
NM_001943.4(DSG2):c.473T>G (p.Val158Gly) rs191143292
NM_001943.4(DSG2):c.524-9T>A rs11876289
NM_001943.4(DSG2):c.593A>G (p.Tyr198Cys) rs786204291
NM_001943.4(DSG2):c.6G>A (p.Ala2=) rs368809971
NM_001943.4(DSG2):c.706A>G (p.Thr236Ala) rs727502985
NM_001943.4(DSG2):c.852T>C (p.Asn284=) rs62095193
NM_001943.4(DSG2):c.861C>T (p.Asn287=) rs2230233
NM_001943.4(DSG2):c.86_87delTAinsATTCTATTGTTGTGCTATTGTTAT (p.Leu29Tyrfs) rs794728100
NM_001943.4(DSG2):c.877A>G (p.Ile293Val) 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_001943.5(DSG2):c.2750C>T (p.Ala917Val) rs775670183
NM_001943.5(DSG2):c.2906C>T (p.Ala969Val) rs373598034
NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter) rs539821357
NM_002230.2(JUP):c.1224C>T (p.Leu408=) rs2230408
NM_002230.2(JUP):c.1366G>A (p.Val456Ile) rs78437817
NM_002230.2(JUP):c.1563A>G (p.Ala521=) rs149926974
NM_002230.2(JUP):c.2025T>C (p.His675=) rs140670556
NM_002230.2(JUP):c.546G>A (p.Ser182=) rs202038498
NM_002290.4(LAMA4):c.*1C>T rs148811960
NM_002290.4(LAMA4):c.1119C>T (p.His373=) rs782378476
NM_002290.4(LAMA4):c.1169-8C>G rs73538515
NM_002290.4(LAMA4):c.1626A>C (p.Ser542=) rs149459643
NM_002290.4(LAMA4):c.1800G>A (p.Lys600=) rs374481199
NM_002290.4(LAMA4):c.1938T>C (p.Asp646=) rs143269044
NM_002290.4(LAMA4):c.2150G>A (p.Arg717Lys) rs146868519
NM_002290.4(LAMA4):c.3033G>T (p.Leu1011Phe) rs183262122
NM_002290.4(LAMA4):c.3154G>A (p.Val1052Met) rs373650093
NM_002290.4(LAMA4):c.3218G>A (p.Arg1073Gln) rs41289902
NM_002290.4(LAMA4):c.4044C>T (p.Phe1348=) rs34753919
NM_002290.4(LAMA4):c.4152T>C (p.Tyr1384=) rs35042032
NM_002290.4(LAMA4):c.4831C>T (p.Leu1611Phe) rs397516733
NM_002290.4(LAMA4):c.4995T>A (p.Ile1665=) rs148517180
NM_002290.4(LAMA4):c.641G>A (p.Arg214His) rs139146419
NM_002290.4(LAMA4):c.903T>C (p.His301=) rs143580603
NM_002294.2(LAMP2):c.1142T>C (p.Val381Ala) rs139633545
NM_002294.2(LAMP2):c.339C>T (p.Ser113=) rs147369153
NM_002294.2(LAMP2):c.519A>G (p.Val173=) rs1060504543
NM_002294.2(LAMP2):c.74G>A (p.Arg25Gln) rs750118236
NM_002471.3(MYH6):c.-5C>A rs183611755
NM_002471.3(MYH6):c.1071C>T (p.Ile357=) rs58131640
NM_002471.3(MYH6):c.1122G>A (p.Ala374=) rs148091079
NM_002471.3(MYH6):c.1131C>G (p.Asp377Glu) rs61742472
NM_002471.3(MYH6):c.1131C>T (p.Asp377=) rs61742472
NM_002471.3(MYH6):c.1275C>T (p.Ile425=) rs61742470
NM_002471.3(MYH6):c.1449C>T (p.Asn483=) rs145447555
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.2430-4C>A rs376527296
NM_002471.3(MYH6):c.2579G>A (p.Arg860His) rs115845031
NM_002471.3(MYH6):c.2806G>T (p.Ala936Ser) rs141704264
NM_002471.3(MYH6):c.2928+5G>A rs28730772
NM_002471.3(MYH6):c.2946G>A (p.Glu982=) rs145274612
NM_002471.3(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652
NM_002471.3(MYH6):c.3177C>T (p.Gly1059=) rs529676901
NM_002471.3(MYH6):c.3303G>A (p.Val1101=) rs143825034
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.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.3927T>C (p.Ser1309=) rs115742584
NM_002471.3(MYH6):c.3979-10C>A rs28730768
NM_002471.3(MYH6):c.3979-7T>C rs535111647
NM_002471.3(MYH6):c.3979-7_3979-5delTCC rs397516764
NM_002471.3(MYH6):c.3979-8C>T rs555976716
NM_002471.3(MYH6):c.3979-8_3979-7delinsGC rs727503235
NM_002471.3(MYH6):c.3979-8delC rs193922652
NM_002471.3(MYH6):c.3979-9C>A rs57660219
NM_002471.3(MYH6):c.399G>A (p.Val133=) rs78891557
NM_002471.3(MYH6):c.4206C>T (p.Ala1402=) rs111638554
NM_002471.3(MYH6):c.4299C>T (p.Asp1433=) rs765006624
NM_002471.3(MYH6):c.4320T>A (p.Ala1440=) rs145566711
NM_002471.3(MYH6):c.4360-7C>T rs58949384
NM_002471.3(MYH6):c.4651-12A>C rs193922653
NM_002471.3(MYH6):c.4782G>A (p.Arg1594=) rs142823394
NM_002471.3(MYH6):c.4959+13G>A rs28730765
NM_002471.3(MYH6):c.4960-17A>T rs28730764
NM_002471.3(MYH6):c.4960-9G>A rs557113705
NM_002471.3(MYH6):c.4986G>A (p.Ala1662=) rs77416370
NM_002471.3(MYH6):c.5475G>A (p.Glu1825=) rs79143968
NM_002471.3(MYH6):c.622G>A (p.Asp208Asn) rs142027794
NM_002471.3(MYH6):c.643-5C>T rs199859986
NM_002471.3(MYH6):c.831G>T (p.Gln277His) rs140660481
NM_002471.3(MYH6):c.86G>A (p.Arg29Gln) rs150574114
NM_002471.3(MYH6):c.909G>A (p.Leu303=) rs17091623
NM_002471.3(MYH6):c.999C>T (p.Thr333=) rs78107039
NM_002667.4(PLN):c.116T>G (p.Leu39Ter) rs111033560
NM_002667.4(PLN):c.27C>T (p.Arg9=) rs145623013
NM_003276.2(TMPO):c.1434G>C (p.Lys478Asn) rs35761089
NM_003276.2(TMPO):c.713T>G (p.Leu238Arg) rs35998138
NM_003276.2(TMPO):c.877T>G (p.Ser293Ala) rs35645287
NM_003276.2(TMPO):c.950C>G (p.Thr317Ser) rs35969221
NM_003280.2(TNNC1):c.430A>G (p.Asn144Asp) rs730881061
NM_003319.4(TTN):c.111G>C (p.Val37=) rs373923523
NM_003319.4(TTN):c.13282+4410G>A rs72648932
NM_003319.4(TTN):c.13386A>G (p.Glu4462=) rs775954427
NM_003319.4(TTN):c.6682C>G (p.Gln2228Glu) rs145649088
NM_003476.4(CSRP3):c.*12G>A rs45607943
NM_003476.4(CSRP3):c.-74A>C rs45498797
NM_003476.4(CSRP3):c.10T>C (p.Trp4Arg) rs45550635
NM_003476.4(CSRP3):c.136A>C (p.Ser46Arg) rs137852765
NM_003476.4(CSRP3):c.162G>A (p.Ser54=) rs112848043
NM_003476.4(CSRP3):c.213C>T (p.Ile71=) rs45476991
NM_003476.4(CSRP3):c.312C>G (p.Thr104=) rs45582433
NM_003476.4(CSRP3):c.365G>A (p.Arg122Gln) rs193922667
NM_003476.4(CSRP3):c.449G>A (p.Cys150Tyr) rs761507504
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.421C>G (p.Pro141Ala) rs45509691
NM_004415.2(DSP):c.*9T>A rs11558732
NM_004415.2(DSP):c.105G>A (p.Gly35=) rs77445784
NM_004415.2(DSP):c.1206G>A (p.Lys402=) rs150422458
NM_004415.2(DSP):c.1266+6G>T rs73375345
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.2247A>G (p.Leu749=) rs28763963
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.2673T>C (p.Tyr891=) rs146407262
NM_004415.2(DSP):c.2684A>G (p.Tyr895Cys) rs367752002
NM_004415.2(DSP):c.269A>G (p.Gln90Arg) rs188516326
NM_004415.2(DSP):c.2723G>A (p.Arg908His) rs142494121
NM_004415.2(DSP):c.273delT (p.Glu92Asnfs) rs794728136
NM_004415.2(DSP):c.2773C>T (p.Arg925Trp) rs145933612
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.2986-6T>A rs144748036
NM_004415.2(DSP):c.3018A>G (p.Leu1006=) rs375412541
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.3551G>A (p.Arg1184Gln) rs147909031
NM_004415.2(DSP):c.3630T>A (p.Tyr1210Ter) rs727503001
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.3701A>G (p.Asn1234Ser) rs185367490
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.3956C>G (p.Thr1319Ser) rs138599871
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.4141A>T (p.Thr1381Ser) rs77758574
NM_004415.2(DSP):c.4320G>A (p.Val1440=) rs571103583
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.4526G>A (p.Arg1509Lys) rs577061462
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.4886G>T (p.Ser1629Ile) rs200243976
NM_004415.2(DSP):c.4943A>G (p.Gln1648Arg) rs202232360
NM_004415.2(DSP):c.4961T>C (p.Leu1654Pro) rs749730642
NM_004415.2(DSP):c.4999C>T (p.Gln1667Ter) rs1554108431
NM_004415.2(DSP):c.5178C>A (p.Asn1726Lys) rs147415451
NM_004415.2(DSP):c.5283C>T (p.Asn1761=) rs763355815
NM_004415.2(DSP):c.5304G>C (p.Gly1768=) rs530612211
NM_004415.2(DSP):c.5441G>A (p.Ser1814Asn) rs730880085
NM_004415.2(DSP):c.5498A>T (p.Glu1833Val) rs78652302
NM_004415.2(DSP):c.5513G>A (p.Arg1838His) rs377715841
NM_004415.2(DSP):c.5523A>C (p.Ser1841=) rs730882116
NM_004415.2(DSP):c.5554C>T (p.Arg1852Cys) rs550818559
NM_004415.2(DSP):c.5593A>T (p.Asn1865Tyr) rs562015789
NM_004415.2(DSP):c.6038G>A (p.Arg2013Gln) rs557263443
NM_004415.2(DSP):c.6390T>C (p.Ala2130=) rs28763969
NM_004415.2(DSP):c.6655G>A (p.Val2219Ile) rs397516953
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.699G>A (p.Trp233Ter) rs397516955
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.7548G>A (p.Arg2516=) rs756527780
NM_004415.2(DSP):c.7557G>A (p.Leu2519=) rs397516957
NM_004415.2(DSP):c.7734C>T (p.Ser2578=) rs28763970
NM_004415.2(DSP):c.7883T>C (p.Leu2628Pro) rs147484870
NM_004415.2(DSP):c.7916G>A (p.Arg2639Gln) rs116888866
NM_004415.2(DSP):c.7995G>A (p.Thr2665=) rs35379048
NM_004415.2(DSP):c.8019C>T (p.Asp2673=) rs144275591
NM_004415.2(DSP):c.8175C>A (p.Arg2725=) rs11558731
NM_004415.2(DSP):c.8191T>C (p.Tyr2731His) rs201397978
NM_004415.2(DSP):c.8268A>C (p.Ile2756=) rs397516963
NM_004415.2(DSP):c.8300C>A (p.Thr2767Asn) rs34884895
NM_004415.2(DSP):c.8301C>G (p.Thr2767=) rs145362059
NM_004415.2(DSP):c.8455A>C (p.Met2819Leu) rs138329459
NM_004415.2(DSP):c.8467C>G (p.Pro2823Ala) rs142717240
NM_004415.2(DSP):c.8481C>T (p.Ser2827=) rs151029175
NM_004415.2(DSP):c.8493G>A (p.Ser2831=) rs397516969
NM_004415.2(DSP):c.8605A>G (p.Ile2869Val) rs28763971
NM_004415.2(DSP):c.889G>A (p.Asp297Asn) rs201930322
NM_004415.2(DSP):c.88G>A (p.Val30Met) rs121912998
NM_004415.2(DSP):c.913A>T (p.Ile305Phe) rs17604693
NM_004415.2(DSP):c.939+1G>A rs727504443
NM_004415.2(DSP):c.943C>T (p.Arg315Cys) rs200476515
NM_004415.3(DSP):c.1696G>A (p.Ala566Thr) rs148147581
NM_004415.3(DSP):c.1903+7T>C rs28763962
NM_004415.3(DSP):c.2596C>T (p.Arg866Cys) rs142429411
NM_004415.3(DSP):c.3133C>T (p.Arg1045Ter) rs1554108012
NM_004415.3(DSP):c.3923G>A (p.Arg1308Gln) rs184154918
NM_004415.3(DSP):c.4305_4309delCACTG (p.Thr1436Leufs) rs1554108287
NM_004415.3(DSP):c.5167G>C (p.Glu1723Gln) rs142803672
NM_004415.3(DSP):c.5218G>A (p.Glu1740Lys) rs142885240
NM_004415.3(DSP):c.5555G>A (p.Arg1852His) rs193922669
NM_004415.3(DSP):c.6208G>A (p.Asp2070Asn) rs41302885
NM_004415.3(DSP):c.6881C>G (p.Ala2294Gly) rs147000526
NM_004415.3(DSP):c.8472_8483delGTCCCGCTCCGG (p.Ser2843_Arg2846del) rs397516967
NM_004415.3(DSP):c.8529_8540delTGGGTCCCGGAG (p.Ser2843_Arg2846del) rs794728151
NM_004572.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304
NM_004572.3(PKP2):c.1093A>G (p.Met365Val) rs143900944
NM_004572.3(PKP2):c.1097T>C (p.Leu366Pro) rs1046116
NM_004572.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_004572.3(PKP2):c.1116T>C (p.Ala372=) rs142742483
NM_004572.3(PKP2):c.1171-10T>C rs200122872
NM_004572.3(PKP2):c.1171-11T>C rs183414126
NM_004572.3(PKP2):c.1230C>T (p.Asp410=) rs148364390
NM_004572.3(PKP2):c.1372A>G (p.Ile458Val) rs199571473
NM_004572.3(PKP2):c.1420G>A (p.Ala474Thr) rs138538072
NM_004572.3(PKP2):c.1468C>T (p.Arg490Trp) rs149930872
NM_004572.3(PKP2):c.1550A>G (p.Asn517Ser) rs144536197
NM_004572.3(PKP2):c.1577C>T (p.Thr526Met) rs146882581
NM_004572.3(PKP2):c.1592T>G (p.Ile531Ser) rs147240502
NM_004572.3(PKP2):c.1641T>C (p.Asn547=) rs143782040
NM_004572.3(PKP2):c.1671C>T (p.Asn557=) rs535581825
NM_004572.3(PKP2):c.1689-8dupT rs200009796
NM_004572.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884
NM_004572.3(PKP2):c.1759G>A (p.Val587Ile) rs146102241
NM_004572.3(PKP2):c.195C>T (p.Ala65=) rs397517014
NM_004572.3(PKP2):c.1995G>A (p.Pro665=) rs146144731
NM_004572.3(PKP2):c.2087A>G (p.Asn696Ser) rs140852019
NM_004572.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145
NM_004572.3(PKP2):c.2133C>T (p.Ala711=) rs529442984
NM_004572.3(PKP2):c.2146-1G>C rs193922674
NM_004572.3(PKP2):c.2300-4G>C rs376231586
NM_004572.3(PKP2):c.2349G>A (p.Pro783=) rs753226330
NM_004572.3(PKP2):c.2392A>G (p.Thr798Ala) rs112592855
NM_004572.3(PKP2):c.2431C>A (p.Arg811Ser) rs139734328
NM_004572.3(PKP2):c.2485G>A (p.Asp829Asn) rs151264959
NM_004572.3(PKP2):c.2578-10dupT rs397517024
NM_004572.3(PKP2):c.302G>A (p.Arg101His) rs149542398
NM_004572.3(PKP2):c.306C>A (p.Ser102=) rs376613662
NM_004572.3(PKP2):c.336+17T>G rs185681814
NM_004572.3(PKP2):c.406G>A (p.Val136Met) rs567795321
NM_004572.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_004572.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_004572.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_004572.3(PKP2):c.791C>T (p.Ala264Val) rs62001016
NM_004572.3(PKP2):c.819G>A (p.Pro273=) rs3748279
NM_004572.3(PKP2):c.927C>T (p.Ala309=) rs200152448
NM_004572.3(PKP2):c.939C>T (p.Ser313=) rs61729381
NM_004949.4(DSC2):c.1073C>T (p.Thr358Ile) rs139399951
NM_004949.4(DSC2):c.2194T>G (p.Leu732Val) rs151024019
NM_004949.4(DSC2):c.304G>A (p.Glu102Lys) rs144799937
NM_005159.4(ACTC1):c.1112T>C (p.Ile371Thr) rs730880407
NM_005159.4(ACTC1):c.129+19_129+20insT rs386134228
NM_005159.4(ACTC1):c.129+6C>G rs564151494
NM_005159.4(ACTC1):c.219C>T (p.Ile73=) rs376566924
NM_005159.4(ACTC1):c.301G>A (p.Glu101Lys) rs193922680
NM_005159.4(ACTC1):c.454+9G>A rs148695567
NM_005159.4(ACTC1):c.812T>C (p.Met271Thr) rs730880401
NM_005159.4(ACTC1):c.903A>G (p.Leu301=) rs138347995
NM_005159.4(ACTC1):c.927T>C (p.Pro309=) rs2307493
NM_005572.3(LMNA):c.1017G>A (p.Ala339=) rs17847242
NM_005572.3(LMNA):c.1201C>T (p.Arg401Cys) rs61094188
NM_005572.3(LMNA):c.1338T>C (p.Asp446=) rs505058
NM_005572.3(LMNA):c.1488G>A (p.Thr496=) rs375516745
NM_005572.3(LMNA):c.1584G>A (p.Thr528=) rs80356812
NM_005572.3(LMNA):c.1698C>T (p.His566=) rs4641
NM_005572.3(LMNA):c.1712G>A (p.Arg571His) rs200917748
NM_005572.3(LMNA):c.438C>T (p.Ala146=) rs80356805
NM_005572.3(LMNA):c.51C>T (p.Ser17=) rs11549668
NM_005572.3(LMNA):c.861T>C (p.Ala287=) rs538089
NM_005691.2(ABCC9):c.817-7delT rs193922684
NM_005691.3(ABCC9):c.-11T>C rs72559432
NM_005691.3(ABCC9):c.1165-6delT rs35857705
NM_005691.3(ABCC9):c.1165-6dup rs35857705
NM_005691.3(ABCC9):c.1557G>A (p.Glu519=) rs143346402
NM_005691.3(ABCC9):c.1887G>T (p.Glu629Asp) rs150036969
NM_005691.3(ABCC9):c.2093-7T>C rs185235724
NM_005691.3(ABCC9):c.2200G>A (p.Val734Ile) rs61688134
NM_005691.3(ABCC9):c.2631G>A (p.Thr877=) rs139408145
NM_005691.3(ABCC9):c.2644-11G>A rs61926078
NM_005691.3(ABCC9):c.372T>C (p.Asn124=) rs377384557
NM_005691.3(ABCC9):c.4450-5del rs4148680
NM_005691.3(ABCC9):c.798T>C (p.Asp266=) rs138356189
NM_005691.3(ABCC9):c.817-14_817-4delTTTTTTTTCTT rs774857795
NM_006731.2(FKTN):c.1023G>A (p.Pro341=) rs146967918
NM_006731.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432
NM_006731.2(FKTN):c.166-4A>G rs193922689
NM_007078.2(LDB3):c.1014A>G (p.Thr338=) rs150209221
NM_007078.2(LDB3):c.1051A>G (p.Thr351Ala) rs138251566
NM_007078.2(LDB3):c.1071T>A (p.Pro357=) rs143823978
NM_007078.2(LDB3):c.147G>A (p.Val49=) rs45591834
NM_007078.2(LDB3):c.1609delC (p.Gln537Argfs) rs727503129
NM_007078.2(LDB3):c.2092G>A (p.Ala698Thr) rs45577134
NM_007078.2(LDB3):c.352G>A (p.Val118Met) rs35507268
NM_007078.2(LDB3):c.398C>T (p.Pro133Leu) rs200239096
NM_007078.2(LDB3):c.465C>T (p.Leu155=) rs45516997
NM_007078.2(LDB3):c.576G>A (p.Pro192=) rs45543741
NM_007078.2(LDB3):c.690-4733G>A rs121908333
NM_007078.2(LDB3):c.690-4789A>T rs121908339
NM_007078.2(LDB3):c.690-4A>G rs45529531
NM_007078.2(LDB3):c.993G>A (p.Ala331=) rs140347820
NM_014000.2(VCL):c.120C>T (p.Leu40=) rs144080529
NM_014000.2(VCL):c.1555A>C (p.Ile519Leu) rs141033098
NM_014000.2(VCL):c.1671C>T (p.Asp557=) rs137877092
NM_014000.2(VCL):c.2025G>A (p.Val675=) rs140766884
NM_014000.2(VCL):c.2801C>T (p.Ala934Val) rs16931179
NM_014000.2(VCL):c.2827C>G (p.Pro943Ala) rs71579375
NM_014000.2(VCL):c.3258+10A>T rs71579379
NM_014000.2(VCL):c.339G>A (p.Arg113=) rs56314318
NM_014000.2(VCL):c.404T>C (p.Ile135Thr) rs373744314
NM_014000.2(VCL):c.768T>C (p.Asp256=) rs56413529
NM_014000.2(VCL):c.945C>A (p.Gly315=) rs61731180
NM_014391.2(ANKRD1):c.319G>T (p.Val107Leu) rs114435632
NM_014391.2(ANKRD1):c.346-13_346-10delATTT rs397517250
NM_014391.2(ANKRD1):c.346-14_346-9delTATTTT rs773314113
NM_014391.2(ANKRD1):c.346-15_346-14delTT rs794728971
NM_014391.2(ANKRD1):c.346-17_346-10delATTTATTT rs397517250
NM_014391.2(ANKRD1):c.346-20_346-19delTT rs398014415
NM_014391.2(ANKRD1):c.348G>A (p.Thr116=) rs137914723
NM_014391.2(ANKRD1):c.560C>T (p.Ser187Phe) rs397517251
NM_014391.2(ANKRD1):c.827C>T (p.Ala276Val) rs35550482
NM_016203.3(PRKAG2):c.*3G>A rs113234987
NM_016203.3(PRKAG2):c.111T>A (p.Ile37=) rs144426409
NM_016203.3(PRKAG2):c.123C>T (p.Ser41=) rs397517263
NM_016203.3(PRKAG2):c.130G>A (p.Ala44Thr) rs144857453
NM_016203.3(PRKAG2):c.138G>A (p.Pro46=) rs767613486
NM_016203.3(PRKAG2):c.1459T>C (p.Tyr487His) rs267606976
NM_016203.3(PRKAG2):c.1584+7C>T rs111627309
NM_016203.3(PRKAG2):c.1585-4G>A rs373649956
NM_016203.3(PRKAG2):c.1593G>A (p.Arg531=) rs148197254
NM_016203.3(PRKAG2):c.1623T>C (p.Ile541=) rs28763998
NM_016203.3(PRKAG2):c.1704G>A (p.Thr568=) rs138167675
NM_016203.3(PRKAG2):c.207G>A (p.Pro69=) rs144384573
NM_016203.3(PRKAG2):c.240C>A (p.Gly80=) rs142482217
NM_016203.3(PRKAG2):c.248C>T (p.Pro83Leu) rs757900380
NM_016203.3(PRKAG2):c.250C>T (p.Arg84Trp) rs61746358
NM_016203.3(PRKAG2):c.251G>A (p.Arg84Gln) rs201953758
NM_016203.3(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211
NM_016203.3(PRKAG2):c.471C>T (p.Ser157=) rs141804012
NM_016203.3(PRKAG2):c.531G>T (p.Leu177=) rs373000537
NM_016203.3(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521
NM_016203.3(PRKAG2):c.698C>G (p.Ala233Gly) rs201240745
NM_016203.3(PRKAG2):c.879C>A (p.Phe293Leu) rs193922697
NM_016599.4(MYOZ2):c.237A>G (p.Ala79=) rs17851524
NM_016599.4(MYOZ2):c.360A>G (p.Pro120=) rs117556704
NM_016599.4(MYOZ2):c.750C>T (p.Thr250=) rs17049982
NM_020297.3(ABCC9):c.1296C= (p.Pro432=) rs10770865
NM_020297.3(ABCC9):c.1848C>T (p.Asp616=) rs61001398
NM_020297.3(ABCC9):c.2262T>C (p.Tyr754=) rs145561881
NM_020297.3(ABCC9):c.2826T>C (p.Tyr942=) rs141025897
NM_020297.3(ABCC9):c.3357G>A (p.Leu1119=) rs2287626
NM_020297.3(ABCC9):c.4512+814C>T rs387906805
NM_021991.3(JUP):c.1377G>T (p.Leu459=) rs147370522
NM_021991.3(JUP):c.1942G>A (p.Val648Ile) rs143043662
NM_021991.3(JUP):c.405C>T (p.Asp135=) rs17850807
NM_021991.3(JUP):c.867C>T (p.Thr289=) rs2230407
NM_024334.2(TMEM43):c.*8C>T rs192707412
NM_024334.2(TMEM43):c.-3A>T
NM_024334.2(TMEM43):c.1111T>C (p.Tyr371His) rs116911972
NM_024334.2(TMEM43):c.163-14C>T rs113745859
NM_024334.2(TMEM43):c.163-3delC rs371706980
NM_024334.2(TMEM43):c.164G>A (p.Gly55Asp) rs201453637
NM_024334.2(TMEM43):c.222C>T (p.Pro74=) rs34099410
NM_024334.2(TMEM43):c.271A>G (p.Ile91Val) rs144811578
NM_024334.2(TMEM43):c.504A>T (p.Lys168Asn) rs4685076
NM_024334.2(TMEM43):c.536T>C (p.Met179Thr) rs2340917
NM_024334.2(TMEM43):c.579G>A (p.Ser193=) rs369319499
NM_024334.2(TMEM43):c.698A>G (p.Tyr233Cys) rs35924492
NM_024334.2(TMEM43):c.750C>T (p.Gly250=) rs374222050
NM_024334.2(TMEM43):c.82C>T (p.Arg28Trp) rs35028636
NM_024334.2(TMEM43):c.896G>C (p.Arg299Thr) rs139590716
NM_024334.2(TMEM43):c.909C>T (p.Ser303=) rs35100587
NM_024334.2(TMEM43):c.934C>T (p.Arg312Trp) rs113449357
NM_024334.2(TMEM43):c.953C>T (p.Ala318Val) rs11924644
NM_024422.3(DSC2):c.111A>G (p.Leu37=) rs12954874
NM_024422.3(DSC2):c.2326A>G (p.Ile776Val) rs1893963
NM_024422.3(DSC2):c.2368_2370delGGA (p.Gly790del) rs377272752
NM_024422.3(DSC2):c.2687_2688insGA (p.Ala897Lysfs) rs200056085
NM_024422.3(DSC2):c.631-13dup rs551337657
NM_024422.4(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.4(DSC2):c.1521-7C>T rs374810953
NM_024422.4(DSC2):c.1559T>C (p.Ile520Thr) rs561310777
NM_024422.4(DSC2):c.1680G>A (p.Thr560=) rs567202599
NM_024422.4(DSC2):c.1719C>T (p.Asn573=) rs140167653
NM_024422.4(DSC2):c.174T>C (p.Phe58=) rs150792047
NM_024422.4(DSC2):c.1787C>T (p.Ala596Val) rs148185335
NM_024422.4(DSC2):c.1914G>C (p.Gln638His) rs147742157
NM_024422.4(DSC2):c.2393G>A (p.Arg798Gln) rs61731921
NM_024422.4(DSC2):c.2497C>T (p.Arg833Cys) rs142410803
NM_024422.4(DSC2):c.2616C>T (p.Cys872=) rs61731920
NM_024422.4(DSC2):c.270G>A (p.Glu90=) rs138643506
NM_024422.4(DSC2):c.327A>G (p.Ile109Met) rs373305929
NM_024422.4(DSC2):c.32A>G (p.Asn11Ser) rs868333
NM_024422.4(DSC2):c.348A>G (p.Gln116=) rs137941742
NM_024422.4(DSC2):c.351A>G (p.Thr117=) rs117812913
NM_024422.4(DSC2):c.669A>G (p.Pro223=) rs923697621
NM_024422.4(DSC2):c.835C>T (p.Arg279Cys) rs193922708
NM_024422.4(DSC2):c.907G>A (p.Val303Met) rs145560678
NM_033071.3(SYNE1):c.12149_12150delAGinsGT (p.Lys4050Ser) rs386707192
NM_033118.3(MYLK2):c.1082+11G>A rs76530988
NM_033118.3(MYLK2):c.1710+15A>G rs6060980
NM_033118.3(MYLK2):c.173C>A (p.Ala58Asp) rs138130914
NM_033118.3(MYLK2):c.266G>A (p.Gly89Asp) rs115398036
NM_033118.3(MYLK2):c.430C>G (p.Pro144Ala) rs34396614
NM_033118.3(MYLK2):c.783G>A (p.Pro261=) rs144621796
NM_033337.2(CAV3):c.-2C>T rs772475990
NM_033337.2(CAV3):c.100G>A (p.Glu34Lys) rs199476325
NM_033337.2(CAV3):c.171G>A (p.Val57=) rs61147808
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776
NM_033337.2(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_033337.2(CAV3):c.276C>T (p.Phe92=) rs72546669
NM_033337.2(CAV3):c.336C>T (p.Ile112=) rs139985460
NM_033337.2(CAV3):c.384C>T (p.Phe128=) rs773934743
NM_033337.2(CAV3):c.402G>A (p.Ala134=) rs559206877
NM_033337.2(CAV3):c.402G>C (p.Ala134=) rs559206877
NM_033337.2(CAV3):c.40G>A (p.Val14Ile) rs121909281
NM_033337.2(CAV3):c.417C>T (p.Val139=) rs147250678
NM_133378.4(TTN):c.10114+5G>A rs115985443
NM_133378.4(TTN):c.10242C>T (p.Tyr3414=) rs45447891
NM_133378.4(TTN):c.1068G>A (p.Glu356=) rs144716589
NM_133378.4(TTN):c.1079G>C (p.Arg360Thr) rs56128843
NM_133378.4(TTN):c.10966G>A (p.Ala3656Thr) rs72648923
NM_133378.4(TTN):c.11138C>G (p.Thr3713Ser) rs72648925
NM_133378.4(TTN):c.11252C>G (p.Pro3751Arg) rs72648927
NM_133378.4(TTN):c.11446G>A (p.Val3816Ile) rs72648929
NM_133378.4(TTN):c.11446G>C (p.Val3816Leu) rs72648929
NM_133378.4(TTN):c.11820C>T (p.Thr3940=) rs146353237
NM_133378.4(TTN):c.11852A>G (p.Glu3951Gly) rs72648931
NM_133378.4(TTN):c.12363C>T (p.Asn4121=) rs72648935
NM_133378.4(TTN):c.12571G>A (p.Val4191Met) rs72648937
NM_133378.4(TTN):c.12797A>G (p.Tyr4266Cys) rs72648939
NM_133378.4(TTN):c.13316A>G (p.Tyr4439Cys) rs72648942
NM_133378.4(TTN):c.14156A>G (p.Glu4719Gly) rs146983095
NM_133378.4(TTN):c.15272A>G (p.Asp5091Gly) rs72648951
NM_133378.4(TTN):c.15418C>A (p.Pro5140Thr) rs72648953
NM_133378.4(TTN):c.15651T>C (p.Asn5217=) rs76771282
NM_133378.4(TTN):c.17312C>T (p.Ala5771Val) rs72648960
NM_133378.4(TTN):c.17374G>A (p.Asp5792Asn) rs72648962
NM_133378.4(TTN):c.18342A>G (p.Lys6114=) rs34562585
NM_133378.4(TTN):c.18879T>C (p.His6293=) rs16866469
NM_133378.4(TTN):c.18902G>A (p.Arg6301Gln) rs72648969
NM_133378.4(TTN):c.19445C>T (p.Ser6482Leu) rs17452588
NM_133378.4(TTN):c.20920A>G (p.Ser6974Gly) rs72648980
NM_133378.4(TTN):c.22246G>A (p.Val7416Ile) rs141856116
NM_133378.4(TTN):c.23030-14_23030-10dupTTTGT rs71393436
NM_133378.4(TTN):c.23030-19_23030-10dupTTTGTTTTGT rs71393436
NM_133378.4(TTN):c.23259A>G (p.Thr7753=) rs61232800
NM_133378.4(TTN):c.25396G>A (p.Val8466Ile) rs72649002
NM_133378.4(TTN):c.26542C>T (p.His8848Tyr) rs72650011
NM_133378.4(TTN):c.27220G>A (p.Glu9074Lys) rs73038324
NM_133378.4(TTN):c.28618C>G (p.Leu9540Val) rs72650029
NM_133378.4(TTN):c.28892C>T (p.Pro9631Leu) rs72650031
NM_133378.4(TTN):c.28990+9G>A rs148231130
NM_133378.4(TTN):c.29221C>T (p.Arg9741Trp) rs201991864
NM_133378.4(TTN):c.29321G>A (p.Arg9774Gln) rs72650034
NM_133378.4(TTN):c.29331A>G (p.Glu9777=) rs115744476
NM_133378.4(TTN):c.30484C>A (p.Pro10162Thr) rs532102837
NM_133378.4(TTN):c.30961G>A (p.Val10321Ile) rs202014478
NM_133378.4(TTN):c.31067G>A (p.Arg10356His) rs59887778
NM_133378.4(TTN):c.31361A>C (p.Lys10454Thr) rs189966800
NM_133378.4(TTN):c.31780G>A (p.Val10594Met) rs73038314
NM_133378.4(TTN):c.31881T>A (p.Pro10627=) rs12474306
NM_133378.4(TTN):c.32402C>G (p.Pro10801Arg) rs72650066
NM_133378.4(TTN):c.32704+8delA rs727504922
NM_133378.4(TTN):c.33G>A (p.Pro11=) rs138331646
NM_133378.4(TTN):c.35892T>C (p.Asn11964=) rs16866423
NM_133378.4(TTN):c.35899C>T (p.Arg11967Cys) rs12471771
NM_133378.4(TTN):c.36987G>A (p.Lys12329=) rs755769210
NM_133378.4(TTN):c.37379-10A>G rs72677222
NM_133378.4(TTN):c.37502A>T (p.Glu12501Val) rs114331773
NM_133378.4(TTN):c.37624G>A (p.Asp12542Asn) rs17354992
NM_133378.4(TTN):c.37704G>T (p.Lys12568Asn) rs72677225
NM_133378.4(TTN):c.37822C>T (p.Leu12608=) rs61004744
NM_133378.4(TTN):c.38361G>C (p.Lys12787Asn) rs397517583
NM_133378.4(TTN):c.38989G>T (p.Ala12997Ser) rs145520397
NM_133378.4(TTN):c.39487C>T (p.Arg13163Cys) rs72677231
NM_133378.4(TTN):c.39544G>A (p.Val13182Ile) rs72677232
NM_133378.4(TTN):c.39696G>A (p.Lys13232=) rs114145817
NM_133378.4(TTN):c.40019G>A (p.Arg13340His) rs72677237
NM_133378.4(TTN):c.4034G>A (p.Gly1345Asp) rs36021856
NM_133378.4(TTN):c.41023C>T (p.Pro13675Ser) rs72677242
NM_133378.4(TTN):c.41249T>C (p.Ile13750Thr) rs72677243
NM_133378.4(TTN):c.4153G>A (p.Ala1385Thr) rs140760859
NM_133378.4(TTN):c.42215G>C (p.Ser14072Thr) rs55663050
NM_133378.4(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_133378.4(TTN):c.4396T>C (p.Phe1466Leu) rs151310601
NM_133378.4(TTN):c.45213T>C (p.Asp15071=) rs73036398
NM_133378.4(TTN):c.45392G>A (p.Arg15131His) rs72646808
NM_133378.4(TTN):c.4630A>G (p.Ile1544Val) rs72647877
NM_133378.4(TTN):c.47006T>C (p.Leu15669Pro) rs201412693
NM_133378.4(TTN):c.47325G>A (p.Arg15775=) rs62178963
NM_133378.4(TTN):c.4739C>T (p.Thr1580Met) rs73973147
NM_133378.4(TTN):c.48825G>A (p.Thr16275=) rs72646827
NM_133378.4(TTN):c.48982G>A (p.Val16328Met) rs370629962
NM_133378.4(TTN):c.50104G>C (p.Val16702Leu) rs369440319
NM_133378.4(TTN):c.51229C>T (p.Leu17077=) rs2303836
NM_133378.4(TTN):c.52301A>G rs199512049
NM_133378.4(TTN):c.52528G>A (p.Val17510Met) rs77351975
NM_133378.4(TTN):c.52786G>C (p.Val17596Leu) rs72646843
NM_133378.4(TTN):c.53396G>A (p.Arg17799Gln) rs141973925
NM_133378.4(TTN):c.54218G>A (p.Arg18073Gln) rs199895260
NM_133378.4(TTN):c.542G>A (p.Ser181Asn) rs72647843
NM_133378.4(TTN):c.55319C>T (p.Thr18440Ile) rs72646850
NM_133378.4(TTN):c.55322G>A (p.Arg18441Gln) rs72646851
NM_133378.4(TTN):c.56172C>T (p.Asn18724=) rs199598302
NM_133378.4(TTN):c.57812C>T (p.Ala19271Val) rs55948748
NM_133378.4(TTN):c.59542G>C (p.Ala19848Pro) rs4145333
NM_133378.4(TTN):c.59740C>T (p.Arg19914Trp) rs563233842
NM_133378.4(TTN):c.61527T>C (p.Leu20509=) rs12615797
NM_133378.4(TTN):c.61881C>T (p.Ser20627=) rs67041405
NM_133378.4(TTN):c.63128C>T (p.Ala21043Val) rs72646891
NM_133378.4(TTN):c.63332G>A (p.Arg21111Lys) rs200144345
NM_133378.4(TTN):c.63354G>A (p.Ala21118=) rs375183437
NM_133378.4(TTN):c.63665G>A (p.Arg21222His) rs55677134
NM_133378.4(TTN):c.64001T>C (p.Ile21334Thr) rs55837610
NM_133378.4(TTN):c.64442T>C (p.Leu21481Pro) rs56399205
NM_133378.4(TTN):c.65227A>G (p.Thr21743Ala) rs56201325
NM_133378.4(TTN):c.65464A>G (p.Thr21822Ala) rs182491843
NM_133378.4(TTN):c.66338A>G (p.Gln22113Arg) rs537071956
NM_133378.4(TTN):c.6727G>T (p.Asp2243Tyr) rs138787974
NM_133378.4(TTN):c.69035C>T (p.Thr23012Met) rs56372592
NM_133378.4(TTN):c.70144C>T (p.Leu23382Phe) rs376814602
NM_133378.4(TTN):c.71615G>A (p.Arg23872His) rs56044609
NM_133378.4(TTN):c.71908A>G (p.Thr23970Ala) rs150682764
NM_133378.4(TTN):c.72441C>G (p.Val24147=) rs761074887
NM_133378.4(TTN):c.72618C>T (p.Ala24206=) rs55892928
NM_133378.4(TTN):c.72997A>G (p.Ile24333Val) rs201562505
NM_133378.4(TTN):c.73240T>C (p.Phe24414Leu) rs200406978
NM_133378.4(TTN):c.73835T>C (p.Ile24612Thr) rs182126530
NM_133378.4(TTN):c.74188G>A (p.Asp24730Asn) rs200697681
NM_133378.4(TTN):c.74377C>G (p.Pro24793Ala) rs56137800
NM_133378.4(TTN):c.74698A>C (p.Lys24900Gln) rs201958805
NM_133378.4(TTN):c.74793C>T (p.Thr24931=) rs199629314
NM_133378.4(TTN):c.75036G>A (p.Thr25012=) rs56345408
NM_133378.4(TTN):c.76749A>G (p.Pro25583=) rs73036373
NM_133378.4(TTN):c.80690C>T (p.Ser26897Phe) rs146181116
NM_133378.4(TTN):c.81154C>T (p.Leu27052=) rs115070904
NM_133378.4(TTN):c.81613A>T (p.Ile27205Leu) rs77853750
NM_133378.4(TTN):c.82934T>C (p.Ile27645Thr) rs114026724
NM_133378.4(TTN):c.84487A>G (p.Ile28163Val) rs16866391
NM_133378.4(TTN):c.84833T>C (p.Val28278Ala) rs77968867
NM_133378.4(TTN):c.87147T>A (p.Asp29049Glu) rs72648256
NM_133378.4(TTN):c.87555C>T (p.Leu29185=) rs72648258
NM_133378.4(TTN):c.87849C>T (p.Ser29283=) rs72648260
NM_133378.4(TTN):c.8788G>A (p.Val2930Ile) rs56373393
NM_133378.4(TTN):c.87949G>A (p.Ala29317Thr) rs72648263
NM_133378.4(TTN):c.89240C>T (p.Thr29747Ile) rs56027402
NM_133378.4(TTN):c.89834G>A (p.Arg29945His) rs201080904
NM_133378.4(TTN):c.90056G>A (p.Arg30019His) rs55704830
NM_133378.4(TTN):c.90056G>C (p.Arg30019Pro) rs55704830
NM_133378.4(TTN):c.90538C>T (p.Arg30180Cys) rs72648272
NM_133378.4(TTN):c.90590C>G (p.Ala30197Gly) rs72648273
NM_133378.4(TTN):c.90686A>G (p.Asn30229Ser) rs149001703
NM_133378.4(TTN):c.9359G>A (p.Arg3120Gln) rs72647894
NM_133378.4(TTN):c.93961G>A (p.Val31321Ile) rs34924609
NM_133378.4(TTN):c.94099A>G (p.Ile31367Val) rs56376197
NM_133378.4(TTN):c.94399G>A (p.Asp31467Asn) rs144963736
NM_133378.4(TTN):c.95173A>G (p.Lys31725Glu) rs72629783
NM_133378.4(TTN):c.95443G>C (p.Glu31815Gln) rs148525155
NM_133378.4(TTN):c.95659C>T (p.Arg31887Cys) rs72629785
NM_133378.4(TTN):c.96547G>C (p.Ala32183Pro) rs185683410
NM_133378.4(TTN):c.96673A>C (p.Met32225Leu) rs72629787
NM_133378.4(TTN):c.9674A>G (p.Asn3225Ser) rs202011992
NM_133378.4(TTN):c.96856G>C (p.Val32286Leu) rs55866005
NM_133378.4(TTN):c.97070A>C (p.Glu32357Ala) rs201218828
NM_133378.4(TTN):c.970C>T (p.Pro324Ser) rs72647845
NM_133378.4(TTN):c.97825G>A (p.Val32609Met) rs55865284
NM_133378.4(TTN):c.98971G>C (p.Glu32991Gln) rs199632397
NM_133378.4(TTN):c.99083C>T (p.Thr33028Ile) rs55842557
NM_133379.4(TTN):c.*265+108696C>T rs72650077
NM_133379.4(TTN):c.*265+110695C>T rs76815324
NM_133379.4(TTN):c.*265+187761G>T rs201770959
NM_133379.4(TTN):c.*265+213933G>A rs55938627
NM_133379.4(TTN):c.*265+217591C>T rs371480338
NM_133379.4(TTN):c.*265+26591C>T rs113391261
NM_133379.4(TTN):c.*265+33192T>C rs143368674
NM_133379.4(TTN):c.*265+94550G>A rs528832388
NM_133432.3(TTN):c.11866A>T (p.Ile3956Phe) rs34618570
NM_133432.3(TTN):c.13262A>G (p.Tyr4421Cys) rs34706803
NM_133437.4(TTN):c.10670dup (p.Leu3558Thrfs) rs778172350
NM_144573.3(NEXN):c.1065T>C (p.Asp355=) rs369897647
NM_144573.3(NEXN):c.1677_1682delGGAGGA (p.Glu561_Glu562del) rs397517848
NM_144573.3(NEXN):c.1949_1951delGAG (p.Gly650del) rs397517853
NM_144573.3(NEXN):c.249G>A (p.Glu83=) rs372532824
NM_144573.3(NEXN):c.363G>A (p.Thr121=) rs35117963
NM_144573.3(NEXN):c.512T>C (p.Ile171Thr) rs372065024
NM_144573.3(NEXN):c.732C>A (p.Pro244=) rs201171783
NM_144573.3(NEXN):c.835C>T (p.Arg279Cys) rs146245480
NM_144573.3(NEXN):c.995A>C (p.Glu332Ala) rs201763096
NM_170707.2(LMNA):c.1185G>A (p.Ser395=) rs397517890
NM_170707.2(LMNA):c.992G>A (p.Arg331Gln) rs59301204
NM_170707.3(LMNA):c.1149G>A (p.Glu383=) rs267607603
NM_170707.3(LMNA):c.12G>A (p.Pro4=) rs369823958
NM_170707.3(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.3(LMNA):c.1566C>T (p.Cys522=) rs149339264
NM_170707.3(LMNA):c.1634G>A (p.Arg545His) rs142191737
NM_170707.3(LMNA):c.1749G>A (p.Ser583=) rs970494454
NM_170707.3(LMNA):c.1761G>A (p.Leu587=) rs80356813
NM_170707.3(LMNA):c.1804G>A (p.Gly602Ser) rs60662302
NM_170707.3(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_170707.3(LMNA):c.1931G>A (p.Arg644His) rs368386019
NM_170707.3(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_170707.3(LMNA):c.471G>A (p.Thr157=) rs150645079
NM_170707.3(LMNA):c.569G>A (p.Arg190Gln) rs267607571
NM_170707.3(LMNA):c.612G>A (p.Leu204=) rs12117552
NM_170707.3(LMNA):c.811-13T>A rs80356809
NM_170707.3(LMNA):c.895A>G (p.Ile299Val) rs150924946
NM_170707.3(LMNA):c.937-7C>G rs267607681
NM_170707.3(LMNA):c.937-8C>A rs751707982
NM_170707.3(LMNA):c.949G>A (p.Glu317Lys) rs56816490
NM_170707.4(LMNA):c.1851C>T (p.Ala617=) rs143189394
NM_170707.4(LMNA):c.732G>A (p.Ala244=) rs756952925
NM_198056.2(SCN5A):c.4218G>A (p.Gly1406=) rs41311123
NM_198056.2(SCN5A):c.630G>A (p.Val210=) rs193922727
NM_201555.1(FHL2):c.321C>T (p.Thr107=) rs139644436
NM_213569.2(NEBL):c.357+73457dup rs57918610
TTN:c.1003G>A (p.Val335Met) rs72647846
TTN:c.101766G>C (p.Gln33922His) rs55886356
TTN:c.18903C>T (p.Thr6301=) rs72648950
TTN:c.19204A>G (p.Met6402Val) rs72648954
TTN:c.2781A>C (p.Thr927=) rs55892860
TTN:c.3668C>T (p.Ala1223Val) rs78269740
TTN:c.3993C>T (p.Ile1331=) rs55757622
TTN:c.4246C>T (p.Arg1416Cys) rs72647875
TTN:c.4347A>G (p.Ser1449=) rs719202
TTN:c.57464G>A (p.Arg19155Lys) rs72646833
TTN:c.6353T>C (p.Ile2118Thr) rs56404770
TTN:c.81958G>A (p.Ala27320Thr) rs56365600
TTN:c.82385C>A (p.Thr27462Lys) rs55933739
TTN:c.83056G>A (p.Val27686Ile) rs56309296
TTN:c.84352C>T (p.Arg28118Cys) rs56057221
TTN:c.87669T>C (p.His29223=) rs72648229

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