ClinVar Miner

Variants from CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario with conflicting interpretations

Location: Canada — Primary collection method: clinical testing
Minimum review status of the submission from CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario: Collection method of the submission from CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario:
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
547 591 12 743 596 5 93 1160

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 submitters
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario pathogenic likely pathogenic uncertain significance likely benign benign risk factor other
pathogenic 3 25 6 0 0 3 0
likely pathogenic 38 1 16 0 0 0 0
uncertain significance 30 45 1 262 66 0 0
likely benign 4 0 193 4 314 1 1
benign 1 1 129 366 3 0 0

Submitter to submitter summary #

Total submitters: 85
Download table as spreadsheet
Submitter 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
Invitae 0 949 0 288 164 1 9 462
GeneDx 0 778 0 235 161 0 21 417
Illumina Clinical Services Laboratory,Illumina 0 140 0 199 167 0 2 368
Ambry Genetics 0 665 0 196 109 0 13 318
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 796 0 140 93 0 10 243
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 337 0 95 70 1 3 169
Color 0 270 0 80 55 0 3 138
Biesecker Lab/Human Development Section,National Institutes of Health 0 143 8 63 48 0 0 119
Integrated Genetics/Laboratory Corporation of America 0 197 0 62 39 0 7 108
Genetic Services Laboratory, University of Chicago 0 67 0 61 16 0 0 77
PreventionGenetics 0 186 0 66 9 0 1 76
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 121 0 47 9 0 1 57
Breast Cancer Information Core (BIC) (BRCA2) 0 54 0 9 36 0 6 51
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 85 0 37 9 0 4 50
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 53 0 38 7 0 3 48
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 57 0 32 10 0 5 47
Sharing Clinical Reports Project (SCRP) 0 80 0 28 13 0 3 44
Department of Pathology and Laboratory Medicine,Sinai Health System 0 81 0 35 6 0 2 43
Counsyl 0 82 0 33 7 0 2 42
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 43 0 26 7 0 3 36
Athena Diagnostics Inc 0 53 0 20 7 0 1 28
OMIM 0 21 0 3 3 4 18 27
Center for Human Genetics, Inc 0 23 0 15 11 0 0 26
Blueprint Genetics, 0 36 0 11 11 0 3 25
CSER_CC_NCGL; University of Washington Medical Center 0 31 0 11 14 0 0 25
Breast Cancer Information Core (BIC) (BRCA1) 0 33 0 0 21 0 2 23
Michigan Medical Genetics Laboratories,University of Michigan 0 47 0 17 4 0 1 22
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 31 0 9 8 0 5 22
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 20 0 11 8 0 1 20
CeGaT Praxis fuer Humangenetik Tuebingen 0 19 0 7 11 0 2 20
True Health Diagnostics 0 21 0 18 1 0 0 19
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 30 0 15 3 0 0 18
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 40 0 2 13 0 0 15
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 24 0 13 1 0 1 15
Fulgent Genetics 0 27 0 11 3 0 0 14
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 57 0 8 2 0 3 13
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 24 0 10 2 0 0 12
Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research 0 27 0 2 8 0 1 11
Center for Medical Genetics Ghent,University of Ghent 0 13 0 7 3 0 1 11
Baylor Miraca Genetics Laboratories, 0 26 0 7 2 0 0 9
Quest Diagnostics Nichols Institute San Juan Capistrano 0 68 0 3 3 0 3 9
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 20 0 8 1 0 0 9
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 52 0 4 0 0 5 9
Mendelics 0 17 0 2 4 0 1 7
Department of Pathology and Molecular Medicine,Queen's University 0 24 0 4 1 0 2 7
Pathway Genomics 0 15 0 4 1 0 1 6
GeneReviews 0 4 3 0 0 0 2 5
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 6 0 0 4 0 0 4
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 5 0 2 0 0 2 4
Center for Human Genetics,University of Leuven 0 13 0 2 0 0 2 4
Vantari Genetics 0 6 0 2 2 0 0 4
GeneKor MSA 0 24 0 2 0 0 1 3
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 0 4 0 0 2 0 1 3
Phosphorus, Inc. 0 2 0 2 0 0 1 3
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 3 0 3 0 0 0 3
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 6 0 2 1 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 3 0 1 2 0 0 3
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 2 0 0 2 0 0 2
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 8 0 2 0 0 0 2
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 4 0 0 2 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 3 0 0 0 0 1 1
Division Human Genetics,Medical University Innsbruck 0 7 0 0 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 0 0 0 1 1
Wellcome Centre for Mitochondrial Research,Newcastle University 0 0 0 0 0 0 1 1
Center for Genetic Medicine Research,Children's National Medical Center 0 0 0 0 0 0 1 1
Genologica Medica 0 8 0 0 0 0 1 1
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 0 0 0 1 0 0 0 1
Department of Medical Genetics,Oslo University Hospital 0 17 0 0 0 0 1 1
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology 0 0 1 0 0 0 0 1
Division of Human Genetics,Children's Hospital of Philadelphia 0 3 0 0 1 0 0 1
Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute 0 0 0 0 0 0 1 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 0 0 0 0 0 1 1
Centre for Genomic and Experimental Medicine,University of Edinburgh 0 0 0 1 0 0 0 1
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 0 0 0 0 0 0 1 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 0 1 0 0 1
Department of Cardiovascular and Internal Medicine,Kanazawa University Graduate School of Medicine 0 0 0 1 0 0 0 1
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 0 4 0 0 1 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 0 0 1 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 6 0 0 1 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 1 0 0 1 0 0 1
3DMed Clinical Laboratory Inc 0 1 0 0 0 0 1 1
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 1 0 0 0 0 1 1
Dr. Alfred Bastarche Laboratory,Dr. Georges L. Dumont University Hospital Centre 0 0 0 0 0 0 1 1
Gharavi Laboratory,Columbia University 0 3 0 0 1 0 0 1
University of Washington Department of Laboratory Medicine,University of Washington 0 5 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 1160
Download table as spreadsheet
HGVS dbSNP
NM_000059.3(BRCA2):c.10095delCinsGAATTATATCT (p.Ser3366Asnfs) rs276174803
NM_000059.3(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.3(BRCA2):c.10154G>A (p.Arg3385His) rs80358398
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.3(BRCA2):c.1054dupT (p.Tyr352Leufs) rs80359261
NM_000059.3(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046
NM_000059.3(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708
NM_000059.3(BRCA2):c.1538A>G (p.Lys513Arg) rs28897709
NM_000059.3(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451
NM_000059.3(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.3(BRCA2):c.1788T>C (p.Asp596=) rs11571642
NM_000059.3(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710
NM_000059.3(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.3(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712
NM_000059.3(BRCA2):c.223G>C (p.Ala75Pro) rs28897701
NM_000059.3(BRCA2):c.2254_2257delGACT (p.Asp752Phefs) rs80359326
NM_000059.3(BRCA2):c.2416G>C (p.Asp806His) rs56404215
NM_000059.3(BRCA2):c.2550A>G (p.Gln850=) rs80359785
NM_000059.3(BRCA2):c.2716A>G (p.Thr906Ala) rs80358528
NM_000059.3(BRCA2):c.2751A>G (p.Val917=) rs765644162
NM_000059.3(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716
NM_000059.3(BRCA2):c.2883G>A (p.Gln961=) rs11571655
NM_000059.3(BRCA2):c.2919G>A (p.Ser973=) rs45525041
NM_000059.3(BRCA2):c.2999T>C (p.Ile1000Thr) rs374769365
NM_000059.3(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633
NM_000059.3(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.3(BRCA2):c.3420T>C (p.Ser1140=) rs118093942
NM_000059.3(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600
NM_000059.3(BRCA2):c.3516G>A (p.Ser1172=) rs1799952
NM_000059.3(BRCA2):c.3545_3546delTT (p.Phe1182Terfs) rs80359388
NM_000059.3(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721
NM_000059.3(BRCA2):c.3672C>T (p.Gly1224=) rs587780650
NM_000059.3(BRCA2):c.4003G>T (p.Glu1335Ter) rs747070579
NM_000059.3(BRCA2):c.4054G>T (p.Asp1352Tyr) rs80358655
NM_000059.3(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.3(BRCA2):c.4094G>A (p.Cys1365Tyr) rs80358657
NM_000059.3(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.3(BRCA2):c.4478_4481delAAAG (p.Glu1493Valfs) rs80359454
NM_000059.3(BRCA2):c.4584C>T (p.Ser1528=) rs80359788
NM_000059.3(BRCA2):c.4686A>G (p.Gln1562=) rs28897730
NM_000059.3(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561
NM_000059.3(BRCA2):c.517G>C (p.Gly173Arg) rs397507768
NM_000059.3(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.3(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755
NM_000059.3(BRCA2):c.5418A>G (p.Glu1806=) rs34351119
NM_000059.3(BRCA2):c.5768A>C (p.Asp1923Ala) rs45491005
NM_000059.3(BRCA2):c.5839C>T (p.Pro1947Ser) rs80358812
NM_000059.3(BRCA2):c.5885T>C (p.Ile1962Thr) rs1060502377
NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs) rs80359550
NM_000059.3(BRCA2):c.6017G>C (p.Ser2006Thr) rs144784912
NM_000059.3(BRCA2):c.6131G>C (p.Gly2044Ala) rs56191579
NM_000059.3(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205
NM_000059.3(BRCA2):c.6323G>A (p.Arg2108His) rs35029074
NM_000059.3(BRCA2):c.6613G>A (p.Val2205Met) rs80358889
NM_000059.3(BRCA2):c.6738A>G (p.Pro2246=) rs760272304
NM_000059.3(BRCA2):c.6748A>G (p.Thr2250Ala) rs80358899
NM_000059.3(BRCA2):c.6771C>T (p.Pro2257=) rs373696964
NM_000059.3(BRCA2):c.7008-1G>A rs786204280
NM_000059.3(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331
NM_000059.3(BRCA2):c.708T>C (p.His236=) rs185506536
NM_000059.3(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.3(BRCA2):c.7397C>T (p.Ala2466Val) rs169547
NM_000059.3(BRCA2):c.7435+6G>A rs81002852
NM_000059.3(BRCA2):c.7436-4A>G rs81002904
NM_000059.3(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707
NM_000059.3(BRCA2):c.7471delC (p.Gln2491Argfs) rs886038170
NM_000059.3(BRCA2):c.7484T>C (p.Ile2495Thr) rs80358974
NM_000059.3(BRCA2):c.7843_7844delAT (p.Ile2615Phefs) rs886040867
NM_000059.3(BRCA2):c.7958T>C (p.Leu2653Pro) rs80359022
NM_000059.3(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.3(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745
NM_000059.3(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.3(BRCA2):c.8229_8243del15 (p.Arg2744_Gly2748del) rs80359698
NM_000059.3(BRCA2):c.831T>G (p.Asn277Lys) rs28897705
NM_000059.3(BRCA2):c.8324T>G (p.Met2775Arg) rs80359073
NM_000059.3(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076
NM_000059.3(BRCA2):c.8386C>T (p.Pro2796Ser) rs146120136
NM_000059.3(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.3(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.3(BRCA2):c.8917C>T (p.Arg2973Cys) rs45469092
NM_000059.3(BRCA2):c.8918G>A (p.Arg2973His) rs80359143
NM_000059.3(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.3(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000059.3(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035
NM_000059.3(BRCA2):c.9155G>A (p.Arg3052Gln) rs80359171
NM_000059.3(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907
NM_000059.3(BRCA2):c.9281C>G (p.Ser3094Ter) rs786204283
NM_000059.3(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521
NM_000059.3(BRCA2):c.943T>A (p.Cys315Ser) rs79483201
NM_000059.3(BRCA2):c.9509A>G (p.Asp3170Gly) rs80359224
NM_000059.3(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000059.3(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000090.3(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890
NM_000090.3(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.3(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773
NM_000090.3(COL3A1):c.2445T>G (p.Pro815=) rs199727625
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000090.3(COL3A1):c.583-8C>T rs10166835
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
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_000138.4(FBN1):c.1468+5G>A rs397515757
NM_000138.4(FBN1):c.1537T>C (p.Cys513Arg) rs1555400279
NM_000138.4(FBN1):c.1746C>T (p.Cys582=) rs112366266
NM_000138.4(FBN1):c.2175T>C (p.Asn725=) rs140606
NM_000138.4(FBN1):c.2547C>G (p.Ile849Met) rs778258207
NM_000138.4(FBN1):c.2624G>A (p.Cys875Tyr) rs886039038
NM_000138.4(FBN1):c.2638G>A (p.Gly880Ser) rs794728194
NM_000138.4(FBN1):c.2855-9C>T rs140590
NM_000138.4(FBN1):c.306C>T (p.Cys102=) rs25388
NM_000138.4(FBN1):c.3294C>T (p.Asp1098=) rs140587
NM_000138.4(FBN1):c.3302A>G (p.Tyr1101Cys) rs1555398625
NM_000138.4(FBN1):c.3373C>T (p.Arg1125Ter) rs727505006
NM_000138.4(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241
NM_000138.4(FBN1):c.3457T>C (p.Cys1153Arg) rs886038877
NM_000138.4(FBN1):c.3463+3A>G rs80344206
NM_000138.4(FBN1):c.4096G>A (p.Glu1366Lys) rs763449629
NM_000138.4(FBN1):c.4306G>A (p.Val1436Met) rs377338217
NM_000138.4(FBN1):c.4539C>G (p.Cys1513Trp) rs1555397203
NM_000138.4(FBN1):c.4567C>T (p.Arg1523Ter) rs397515812
NM_000138.4(FBN1):c.4898G>A (p.Cys1633Tyr) rs1555396993
NM_000138.4(FBN1):c.4905C>G (p.Thr1635=) rs113115949
NM_000138.4(FBN1):c.510C>T (p.Tyr170=) rs111671429
NM_000138.4(FBN1):c.5343G>A (p.Val1781=) rs140649
NM_000138.4(FBN1):c.6049T>C (p.Cys2017Arg) rs1555395486
NM_000138.4(FBN1):c.6073G>T (p.Ala2025Ser) rs113577372
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.6832C>G (p.Pro2278Ala) rs363835
NM_000138.4(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.4(FBN1):c.6970G>A (p.Ala2324Thr) rs148831709
NM_000138.4(FBN1):c.7346A>G (p.Asn2449Ser) rs146166400
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.8038C>T (p.Arg2680Cys) rs794728283
NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008
NM_000138.4(FBN1):c.8385C>T (p.Ile2795=) rs138574576
NM_000138.4(FBN1):c.911G>A (p.Cys304Tyr) rs1555401011
NM_000138.4(FBN1):c.986T>C (p.Ile329Thr) rs12324002
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.1038C>T (p.Arg346=) rs758016271
NM_000256.3(MYBPC3):c.108A>G (p.Ala36=) rs754870909
NM_000256.3(MYBPC3):c.1351+1G>A rs727503204
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534
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.1564G>A (p.Ala522Thr) rs11570082
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.1863C>T (p.Phe621=) rs193922378
NM_000256.3(MYBPC3):c.1869C>T (p.Cys623=) rs397515932
NM_000256.3(MYBPC3):c.2460G>A (p.Arg820=) rs532996422
NM_000256.3(MYBPC3):c.2534G>A (p.Arg845His) rs730880568
NM_000256.3(MYBPC3):c.2800C>T (p.Leu934=) rs367980215
NM_000256.3(MYBPC3):c.2877G>A (p.Thr959=) rs727503181
NM_000256.3(MYBPC3):c.2905+5G>T rs193922381
NM_000256.3(MYBPC3):c.2997C>T (p.Gly999=) rs377283955
NM_000256.3(MYBPC3):c.299_308delCAGAGCCCAT (p.Ala100Glyfs)
NM_000256.3(MYBPC3):c.3107G>A (p.Arg1036His) rs374255381
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.3699G>A (p.Gln1233=) rs200162906
NM_000256.3(MYBPC3):c.3776delA (p.Gln1259Argfs) rs727503166
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=) rs150291001
NM_000256.3(MYBPC3):c.551dupT (p.Lys185Glufs) rs397516059
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.897delG (p.Lys301Argfs) rs1555122928
NM_000256.3(MYBPC3):c.906-7G>T rs397516079
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.1324C>T (p.Arg442Cys) rs148808089
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.240C>T (p.Asn80=) rs200493975
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.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.4954G>T (p.Asp1652Tyr) rs397516233
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.3156G>A (p.Lys1052=) rs138294643
NM_000257.4(MYH7):c.3337-3dup rs45504498
NM_000257.4(MYH7):c.4689G>A (p.Leu1563=) rs770477774
NM_000257.4(MYH7):c.5790+9C>G rs1057521992
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) rs397516269
NM_000257.4(MYH7):c.930T>C (p.Tyr310=) rs111626355
NM_000258.2(MYL3):c.170C>A (p.Ala57Asp) rs139794067
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.81T>C (p.Pro27=) rs147584015
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.25-4C>T rs202086705
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.557G>A (p.Arg186Gln) rs397516357
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.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_001001430.2(TNNT2):c.422G>A (p.Arg141Gln) rs730881101
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.773A>T (p.Lys258Ile) rs397516482
NM_001001430.2(TNNT2):c.780+5G>A rs730881113
NM_001001430.2(TNNT2):c.833G>C (p.Arg278Pro) rs397516484
NM_001018005.1(TPM1):c.27G>A (p.Gln9=) rs397516365
NM_001018005.1(TPM1):c.644C>T (p.Ser215Leu) rs199476316
NM_001035.2(RYR2):c.10155A>G (p.Leu3385=) rs543120030
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.1053A>G (p.Thr351=) rs187565743
NM_001035.2(RYR2):c.10641G>A (p.Thr3547=) rs144256966
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.11835C>T (p.Val3945=) rs78939657
NM_001035.2(RYR2):c.11934G>A (p.Met3978Ile) rs794728826
NM_001035.2(RYR2):c.12159G>A (p.Glu4053=) rs41267517
NM_001035.2(RYR2):c.13326C>T (p.Ala4442=) rs768161152
NM_001035.2(RYR2):c.13528G>A (p.Ala4510Thr) rs397516510
NM_001035.2(RYR2):c.13656T>C (p.His4552=) rs397516512
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.14421C>T (p.Asp4807=) rs75206601
NM_001035.2(RYR2):c.14481C>T (p.Ile4827=) rs114303476
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.2719-4T>A rs397516523
NM_001035.2(RYR2):c.2760G>A (p.Glu920=) rs186181155
NM_001035.2(RYR2):c.3030T>C (p.Asp1010=) rs138064129
NM_001035.2(RYR2):c.3153C>T (p.Arg1051=) rs397516524
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.3720C>T (p.Ala1240=) rs750335699
NM_001035.2(RYR2):c.3888C>T (p.Asn1296=) rs373721253
NM_001035.2(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676
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.5586C>T (p.Asp1862=) rs193922628
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.684C>T (p.Leu228=) rs72549417
NM_001035.2(RYR2):c.6928+4G>A rs79862521
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.8145G>T (p.Glu2715Asp) rs200420897
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.8736G>A (p.Leu2912=) rs762521873
NM_001035.2(RYR2):c.892C>T (p.Arg298Cys) rs551099887
NM_001035.2(RYR2):c.9449+8T>A rs60777199
NM_001035.2(RYR2):c.9519T>C (p.Thr3173=) rs371931287
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_001040113.1(MYH11):c.3123T>C (p.Ser1041=) rs181744522
NM_001040113.1(MYH11):c.429G>A (p.Lys143=) rs200672270
NM_001040113.1(MYH11):c.5317-4C>T rs183176702
NM_001040113.1(MYH11):c.5808-9C>T
NM_001040113.1(MYH11):c.5819C>A (p.Pro1940Gln) rs111588143
NM_001040113.1(MYH11):c.5819dupC (p.Gln1941Thrfs) rs747392139
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.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.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.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_001135599.3(TGFB2):c.-5A>T rs200702935
NM_001135599.3(TGFB2):c.114G>A (p.Glu38=) rs149215818
NM_001135599.3(TGFB2):c.440C>T (p.Pro147Leu) rs149533093
NM_001135599.3(TGFB2):c.703G>C (p.Val235Leu) rs10482810
NM_001141945.2(ACTA2):c.115C>T (p.Arg39Cys) rs112901682
NM_001143979.1(NDE1):c.948-5807C>G rs144421849
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_001613.2(ACTA2):c.116G>A (p.Arg39His) rs794728021
NM_001613.2(ACTA2):c.201G>C (p.Leu67=) rs199773697
NM_001613.2(ACTA2):c.417G>A (p.Gln139=) rs111265233
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.897+4_897+5delGG rs397516699
NM_001943.3(DSG2):c.437G>T (p.Arg146Leu) rs113451409
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.166G>A (p.Val56Met) rs121913013
NM_001943.4(DSG2):c.1920C>T (p.Gly640=) rs775642244
NM_001943.4(DSG2):c.221A>G (p.His74Arg) rs201855245
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.3082G>A (p.Gly1028Ser) rs150864240
NM_001943.4(DSG2):c.3243C>T (p.Val1081=) rs11542379
NM_001943.4(DSG2):c.391G>A (p.Ala131Thr) rs373542380
NM_001943.4(DSG2):c.524-9T>A rs11876289
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.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.4782G>A (p.Arg1594=) rs142823394
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_002474.2(MYH11):c.1419G>A (p.Gln473=) rs61734198
NM_002474.2(MYH11):c.1512C>T (p.Ile504=) rs149630866
NM_002474.2(MYH11):c.1743T>C (p.Ala581=) rs2272554
NM_002474.2(MYH11):c.291C>T (p.Asn97=) rs113363750
NM_002474.2(MYH11):c.3531G>A (p.Thr1177=) rs149980738
NM_002474.2(MYH11):c.3652-6C>T rs193922630
NM_002474.2(MYH11):c.387A>G (p.Lys129=) rs78754138
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.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.471C>T (p.Ile157=) rs140267000
NM_002474.2(MYH11):c.4774A>C (p.Arg1592=) rs114556043
NM_002474.2(MYH11):c.4791+4C>T rs142108062
NM_002474.2(MYH11):c.5275G>A (p.Val1759Ile) rs138059405
NM_002474.2(MYH11):c.5499G>C (p.Glu1833Asp) rs145252402
NM_002474.2(MYH11):c.5504+8G>C rs148691719
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.5691C>T (p.Asn1897=) rs149566621
NM_002474.2(MYH11):c.5757C>T (p.Arg1919=) rs138168272
NM_002474.2(MYH11):c.914A>G (p.Asn305Ser) rs185661462
NM_002667.4(PLN):c.116T>G (p.Leu39Ter) rs111033560
NM_002667.4(PLN):c.27C>T (p.Arg9=) rs145623013
NM_003239.4(TGFB3):c.*9G>A rs4252346
NM_003239.4(TGFB3):c.164G>A (p.Ser55Asn) rs143229915
NM_003239.4(TGFB3):c.39C>T (p.Ala13=) rs11466415
NM_003239.4(TGFB3):c.973C>T (p.Arg325Ter) rs1555360229
NM_003242.5(TGFBR2):c.1014G>A (p.Thr338=) rs764720370
NM_003242.5(TGFBR2):c.1062C>T (p.Leu354=) rs113194608
NM_003242.5(TGFBR2):c.571G>A (p.Val191Ile) rs56105708
NM_003242.5(TGFBR2):c.94+16245G>A rs61732532
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.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.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_004415.2(DSP):c.*9T>A rs11558732
NM_004415.2(DSP):c.1488G>A (p.Thr496=) rs35820473
NM_004415.2(DSP):c.2673T>C (p.Tyr891=) rs146407262
NM_004415.2(DSP):c.2815G>A (p.Gly939Ser) rs80325569
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.4455G>T (p.Arg1485Ser) rs113902911
NM_004415.2(DSP):c.4489C>T (p.Arg1497Trp) rs148041814
NM_004415.2(DSP):c.5178C>A (p.Asn1726Lys) rs147415451
NM_004415.2(DSP):c.5498A>T (p.Glu1833Val) rs78652302
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.8300C>A (p.Thr2767Asn) rs34884895
NM_004415.2(DSP):c.8301C>G (p.Thr2767=) rs145362059
NM_004415.2(DSP):c.8481C>T (p.Ser2827=) rs151029175
NM_004415.2(DSP):c.8605A>G (p.Ile2869Val) rs28763971
NM_004415.2(DSP):c.943C>T (p.Arg315Cys) rs200476515
NM_004415.3(DSP):c.2596C>T (p.Arg866Cys) rs142429411
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.6881C>G (p.Ala2294Gly) rs147000526
NM_004572.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304
NM_004572.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_004572.3(PKP2):c.1420G>A (p.Ala474Thr) rs138538072
NM_004572.3(PKP2):c.1592T>G (p.Ile531Ser) rs147240502
NM_004572.3(PKP2):c.2087A>G (p.Asn696Ser) rs140852019
NM_004572.3(PKP2):c.2300-21_2300-20delGT rs200266270
NM_004572.3(PKP2):c.2392A>G (p.Thr798Ala) rs112592855
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.791C>T (p.Ala264Val) rs62001016
NM_004572.3(PKP2):c.939C>T (p.Ser313=) rs61729381
NM_004612.2(TGFBR1):c.528G>A (p.Thr176=) rs190878719
NM_004612.3(TGFBR1):c.1125A>C (p.Thr375=) rs7861780
NM_004949.4(DSC2):c.1073C>T (p.Thr358Ile) rs139399951
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+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_005359.5(SMAD4):c.*11C>T rs11663402
NM_005359.5(SMAD4):c.1086T>C (p.Phe362=) rs1801250
NM_005359.5(SMAD4):c.424+5G>A rs200772603
NM_005572.3(LMNA):c.1201C>T (p.Arg401Cys) rs61094188
NM_005572.3(LMNA):c.1488G>A (p.Thr496=) rs375516745
NM_005572.3(LMNA):c.438C>T (p.Ala146=) rs80356805
NM_005572.3(LMNA):c.51C>T (p.Ser17=) rs11549668
NM_005691.2(ABCC9):c.817-7delT rs193922684
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.2631G>A (p.Thr877=) rs139408145
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_005902.3(SMAD3):c.636G>A (p.Met212Ile) rs202094530
NM_005902.4(SMAD3):c.803G>A (p.Arg268His) rs863223740
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_007294.3(BRCA1):c.1106_1108delATG (p.Asp369del) rs80358325
NM_007294.3(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676
NM_007294.3(BRCA1):c.1487G>A (p.Arg496His) rs28897677
NM_007294.3(BRCA1):c.1648A>C (p.Asn550His) rs56012641
NM_007294.3(BRCA1):c.1846_1848delTCT (p.Ser616del) rs80358329
NM_007294.3(BRCA1):c.1865C>T (p.Ala622Val) rs56039126
NM_007294.3(BRCA1):c.1911T>C (p.Thr637=) rs62625305
NM_007294.3(BRCA1):c.1961delA (p.Lys654Serfs) rs80357522
NM_007294.3(BRCA1):c.1971A>G (p.Gln657=) rs28897679
NM_007294.3(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102
NM_007294.3(BRCA1):c.21C>T (p.Arg7=) rs149402012
NM_007294.3(BRCA1):c.2389G>T (p.Glu797Ter) rs62625306
NM_007294.3(BRCA1):c.2523G>A (p.Arg841=) rs773013395
NM_007294.3(BRCA1):c.2566T>C (p.Tyr856His) rs80356892
NM_007294.3(BRCA1):c.2635G>T (p.Glu879Ter) rs80357251
NM_007294.3(BRCA1):c.2662C>T (p.His888Tyr) rs80357480
NM_007294.3(BRCA1):c.2733A>G (p.Gly911=) rs1800740
NM_007294.3(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704
NM_007294.3(BRCA1):c.3093T>A (p.Ile1031=) rs786204265
NM_007294.3(BRCA1):c.3302G>A (p.Ser1101Asn) rs41293447
NM_007294.3(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687
NM_007294.3(BRCA1):c.3713C>T (p.Pro1238Leu) rs28897688
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.3(BRCA1):c.4063_4065delAAT (p.Asn1355del) rs80358341
NM_007294.3(BRCA1):c.4065_4068delTCAA (p.Asn1355Lysfs) rs80357508
NM_007294.3(BRCA1):c.4812A>G (p.Gln1604=) rs28897693
NM_007294.3(BRCA1):c.4816A>G (p.Lys1606Glu) rs80356943
NM_007294.3(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854
NM_007294.3(BRCA1):c.4885dup (p.Glu1629Glyfs) rs886040254
NM_007294.3(BRCA1):c.4903G>A (p.Glu1635Lys) rs200432771
NM_007294.3(BRCA1):c.4986+6T>C rs80358086
NM_007294.3(BRCA1):c.4986+6T>G rs80358086
NM_007294.3(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs397507247
NM_007294.3(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033
NM_007294.3(BRCA1):c.5453A>G (p.Asp1818Gly) rs80357477
NM_007294.3(BRCA1):c.547+14delG rs273902771
NM_007294.3(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465
NM_007294.3(BRCA1):c.5576C>G (p.Pro1859Arg) rs80357322
NM_007294.3(BRCA1):c.591C>T (p.Cys197=) rs1799965
NM_007294.3(BRCA1):c.594-2A>C rs80358033
NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs) rs386833395
NM_007294.3(BRCA1):c.736T>G (p.Leu246Val) rs28897675
NM_007294.3(BRCA1):c.81-14C>T rs80358006
NM_007294.3(BRCA1):c.81-6T>C rs80358179
NM_007294.3(BRCA1):c.946A>G (p.Ser316Gly) rs55874646
NM_007294.3(BRCA1):c.981A>G (p.Thr327=) rs1800063
NM_014000.2(VCL):c.120C>T (p.Leu40=) rs144080529
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.404T>C (p.Ile135Thr) rs373744314
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.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.130G>A (p.Ala44Thr) rs144857453
NM_016203.3(PRKAG2):c.138G>A (p.Pro46=) rs767613486
NM_016203.3(PRKAG2):c.1584+7C>T rs111627309
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.250C>T (p.Arg84Trp) rs61746358
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_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_017617.5(NOTCH1):c.1100-7T>C rs376603720
NM_017617.5(NOTCH1):c.17_18delCGinsTT (p.Ala6Val) rs878855023
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553
NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=) rs376744729
NM_017617.5(NOTCH1):c.2206G>A (p.Gly736Arg) rs201662530
NM_017617.5(NOTCH1):c.2646A>T (p.Ala882=) rs61751550
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358
NM_017617.5(NOTCH1):c.3249C>T (p.Cys1083=) rs139994842
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546
NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=) rs3812602
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=) rs61751545
NM_017617.5(NOTCH1):c.339C>T (p.Asn113=) rs369947231
NM_017617.5(NOTCH1):c.4031C>T (p.Thr1344Met) rs201215245
NM_017617.5(NOTCH1):c.4049G>T (p.Arg1350Leu) rs150343794
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=) rs61751539
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=) rs568700183
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=) rs35980907
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=) rs61751536
NM_017617.5(NOTCH1):c.5934+8G>A rs747822127
NM_017617.5(NOTCH1):c.6291G>A (p.Pro2097=) rs201987555
NM_017617.5(NOTCH1):c.6397C>T (p.Pro2133Ser) rs61733294
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) rs114832250
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=) rs61751488
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His) rs150737112
NM_017617.5(NOTCH1):c.7606G>A (p.Val2536Ile) rs111627256
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.163-3delC rs371706980
NM_024334.2(TMEM43):c.222C>T (p.Pro74=) rs34099410
NM_024334.2(TMEM43):c.698A>G (p.Tyr233Cys) rs35924492
NM_024334.2(TMEM43):c.82C>T (p.Arg28Trp) rs35028636
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.2687_2688insGA (p.Ala897Lysfs) rs200056085
NM_024422.4(DSC2):c.1559T>C (p.Ile520Thr) rs561310777
NM_024422.4(DSC2):c.1719C>T (p.Asn573=) rs140167653
NM_024422.4(DSC2):c.1787C>T (p.Ala596Val) rs148185335
NM_024422.4(DSC2):c.2497C>T (p.Arg833Cys) rs142410803
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_030777.3(SLC2A10):c.1552A>G (p.Thr518Ala) rs6018008
NM_030777.3(SLC2A10):c.1609A>G (p.Ile537Val) rs7348121
NM_030777.3(SLC2A10):c.316G>T (p.Ala106Ser) rs6094438
NM_030777.3(SLC2A10):c.366C>T (p.Tyr122=) rs34990188
NM_030777.3(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610
NM_030777.3(SLC2A10):c.765C>T (p.Ser255=) rs142106322
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.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_053025.3(MYLK):c.1007C>T (p.Pro336Leu) rs35912339
NM_053025.3(MYLK):c.1474G>A (p.Ala492Thr) rs143010767
NM_053025.3(MYLK):c.1486C>G (p.Leu496Val) rs9833275
NM_053025.3(MYLK):c.1516A>G (p.Arg506Gly) rs77323602
NM_053025.3(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.3(MYLK):c.1991A>G (p.Gln664Arg) rs200273207
NM_053025.3(MYLK):c.2253C>T (p.Thr751=) rs138777049
NM_053025.3(MYLK):c.24C>G (p.Ala8=) rs78118111
NM_053025.3(MYLK):c.2533C>T (p.Arg845Cys) rs3732485
NM_053025.3(MYLK):c.256C>T (p.Arg86Trp) rs368822172
NM_053025.3(MYLK):c.3706A>G (p.Met1236Val) rs113124819
NM_053025.3(MYLK):c.3987T>G (p.Asp1329Glu) rs9844788
NM_053025.3(MYLK):c.4349G>A (p.Arg1450Gln) rs41366751
NM_053025.3(MYLK):c.4620-4G>A rs371533014
NM_053025.3(MYLK):c.4620-6C>T rs113607507
NM_053025.3(MYLK):c.4764G>A (p.Pro1588=) rs56056823
NM_053025.3(MYLK):c.479C>G (p.Pro160Arg) rs111256888
NM_053025.3(MYLK):c.5001C>T (p.Asn1667=) rs375038682
NM_053025.3(MYLK):c.5114+7A>G rs1553774672
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.992G>A (p.Arg331Gln) rs59301204
NM_170707.3(LMNA):c.12G>A (p.Pro4=) rs369823958
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.1931G>A (p.Arg644His) rs368386019
NM_170707.3(LMNA):c.357C>T (p.Arg119=) rs41313880
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.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_201555.1(FHL2):c.321C>T (p.Thr107=) rs139644436
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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