ClinVar Miner

Variants from Blueprint Genetics with conflicting interpretations

Location: Finland — Primary collection method: clinical testing
Minimum review status of the submission from Blueprint Genetics: Collection method of the submission from Blueprint Genetics:
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
1126 548 10 308 243 17 209 674

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
Blueprint Genetics pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective risk factor other
pathogenic 9 134 24 3 1 1 1 1 5 2
likely pathogenic 128 1 103 11 4 0 0 0 1 0
uncertain significance 26 54 0 165 48 0 2 0 4 2
likely benign 5 3 62 0 45 0 0 0 0 0
benign 1 0 8 7 0 0 0 0 0 0
risk factor 1 1 2 3 2 0 0 0 0 2

Submitter to submitter summary #

Total submitters: 111
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 0 530 0 99 142 2 73 314
GeneDx 0 414 0 84 83 1 63 230
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 299 0 54 47 3 44 147
Ambry Genetics 0 196 0 47 54 2 34 135
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 98 0 19 18 4 19 60
OMIM 0 117 0 22 2 13 21 56
Integrated Genetics/Laboratory Corporation of America 0 98 0 22 21 2 7 51
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 64 0 23 12 0 12 47
Color 0 48 0 14 27 0 8 47
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 69 0 15 21 1 9 45
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 62 0 15 10 1 17 43
Illumina Clinical Services Laboratory,Illumina 0 71 0 4 29 2 6 41
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 38 0 13 24 1 3 40
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 48 0 15 11 0 4 30
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 20 0 12 14 1 2 29
Mendelics 0 37 0 9 10 2 7 28
CeGaT Praxis fuer Humangenetik Tuebingen 0 54 0 2 11 2 11 26
Center for Medical Genetics Ghent,University of Ghent 0 20 0 15 2 0 5 22
CSER _CC_NCGL, University of Washington 0 27 0 5 10 0 6 21
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 7 0 13 0 0 4 17
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 19 0 4 5 0 5 14
Counsyl 0 22 0 6 0 0 6 12
GeneReviews 0 12 9 3 0 0 0 12
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 36 0 6 6 0 0 12
Center for Human Genetics, Inc 0 25 0 2 8 0 1 11
PreventionGenetics,PreventionGenetics 0 5 0 3 9 0 0 11
Athena Diagnostics Inc 0 22 0 3 4 0 3 10
Fulgent Genetics,Fulgent Genetics 0 77 0 8 0 0 2 10
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 14 0 3 3 0 4 10
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 19 0 2 4 0 3 9
Center for Human Genetics,University of Leuven 0 28 0 5 0 0 4 9
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 17 0 6 0 0 3 9
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 7 0 4 4 0 1 8
Blueprint Genetics 2302 38 0 6 2 0 0 8
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 12 0 7 0 0 1 8
Baylor Genetics 0 30 0 4 0 0 3 7
Genetic Services Laboratory, University of Chicago 0 14 0 1 5 0 1 7
Division of Human Genetics,Children's Hospital of Philadelphia 0 7 0 2 2 0 2 6
Database of Curated Mutations (DoCM) 0 3 0 6 0 0 0 6
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 9 0 1 4 0 1 6
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 5 0 1 2 0 2 5
Robarts Research Institute,Western University 0 1 0 4 1 0 0 5
NIHR Bioresource Rare Diseases, University of Cambridge 0 3 0 5 0 0 0 5
ClinGen RASopathy Variant Curation Expert Panel 0 22 0 4 1 0 0 5
Gharavi Laboratory,Columbia University 0 19 0 3 1 0 1 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 1 0 3 4
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 7 0 0 2 0 2 4
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 2 0 3 0 0 1 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 17 0 3 0 0 1 4
Collagen Diagnostic Laboratory,University of Washington 0 1 0 3 0 0 0 3
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 12 0 3 0 0 0 3
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 43 0 1 1 0 1 3
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 8 0 2 0 0 1 3
Institute of Human Genetics,Klinikum rechts der Isar 0 12 0 3 0 0 0 3
PharmGKB 0 0 0 0 0 3 0 3
LDLR-LOVD, British Heart Foundation 0 3 0 3 0 0 0 3
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 0 0 0 2 0 0 1 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 9 0 3 0 0 0 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 18 0 2 0 1 0 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 5 0 0 0 0 3 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 2 0 1 0 0 2 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 14 0 0 0 1 1 2
Quest Diagnostics Nichols Institute San Juan Capistrano 0 4 0 1 1 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 1 0 0 0 0 2 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 2 2
Nyegaard lab; Aarhus University 0 0 0 2 0 0 0 2
UCLA Clinical Genomics Center, UCLA 0 2 0 1 0 0 1 2
Evolutionary and Medical Genetics Laboratory, Centre for Cellular and Molecular Biology 0 0 1 1 0 0 0 2
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 0 0 1 0 1 2
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 3 0 1 0 0 1 2
SIB Swiss Institute of Bioinformatics 0 2 0 2 0 0 0 2
Yale Center for Mendelian Genomics,Yale University 0 0 0 2 0 0 0 2
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 3 0 2 0 0 0 2
Department of Immunology,University Hospital Southampton NHSFT 0 0 0 1 0 0 1 2
Broad Institute Rare Disease Group,Broad Institute 0 6 0 1 0 0 1 2
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 2 0 2 0 0 0 2
Klaassen Lab,Charite University Medicine Berlin 0 4 0 0 1 0 1 2
Laboratory of Gastroenterology and Hepatology,Radboud University Medical Center 0 0 0 1 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 1 0 1 0 0 0 1
Samuels research lab,Centre de Recherche du CHU Ste-Justine 0 0 0 1 0 0 0 1
Institute for Integrative and Experimental Genomics,University of Luebeck 0 0 0 0 1 0 0 1
Department of Neurology, University Hospital of Strasbourg 0 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics,University of Washington 0 0 0 1 0 0 0 1
Medical Genetics, University of Parma 0 0 0 1 0 0 0 1
Centre for Genomic and Experimental Medicine,University of Edinburgh 0 1 0 1 0 0 0 1
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 0 1 0 0 0 0 1 1
Medical Research Institute,Tokyo Medical and Dental University 0 0 0 0 0 1 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 1 0 0 1 0 0 1
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 3 0 1 0 0 0 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 3 0 1 0 0 0 1
Institute of Human Genetics,University of Wuerzburg 0 0 0 0 0 0 1 1
Department of Immunology,Hospital Universitario Virgen del Rocio 0 0 0 0 0 0 1 1
Undiagnosed Diseases Network,NIH 0 2 0 1 0 0 0 1
Heart Center,Academic Medical Center Amsterdam 0 1 0 1 0 0 0 1
Phosphorus, Inc. 0 9 0 0 0 0 1 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 2 0 1 0 0 0 1
Fundacion Hipercolesterolemia Familiar 0 3 0 1 0 0 0 1
Iberoamerican FH Network 0 3 0 1 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 1 0 1 0 0 0 1
Medical & Molecular Genetics Group,University of Lincoln 0 1 0 1 0 0 0 1
Immunogenetics Laboratory,Johns Hopkins All Children's Hospital 0 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 10 0 1 0 0 0 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 1 0 0 1 0 0 1
Pediatric Immunology Service,The Chaim Sheba Medical Center at Tel HaShomer 0 0 0 0 0 0 1 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 4 0 0 1 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 1 0 0 1 0 0 1
Institute for Genomic Statistics and Bioinformatics,University Hospital Bonn 0 11 0 1 0 0 0 1
Center for Computational Genomics and Data Science,University of Alabama 0 0 0 0 0 1 0 1
Clinical Genetics Laboratory,Skane University Hospital Lund 0 0 0 1 0 0 0 1
Cardiology unit,Meyer University Hospital 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 674
Download table as spreadsheet
HGVS dbSNP
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721
NM_000051.3(ATM):c.6095G>A (p.Arg2032Lys) rs139770721
NM_000051.3(ATM):c.6348-9A>T
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000064.4(C3):c.1898A>G (p.Lys633Arg) rs140655115
NM_000064.4(C3):c.3671G>A (p.Gly1224Asp) rs11569534
NM_000064.4(C3):c.4100T>C (p.Ile1367Thr)
NM_000065.4(C6):c.2381+2T>C rs76202909
NM_000090.3(COL3A1):c.1232G>A (p.Gly411Glu) rs886038816
NM_000090.3(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247
NM_000090.3(COL3A1):c.2123G>T (p.Gly708Val) rs111929073
NM_000090.3(COL3A1):c.2445+19A>G
NM_000090.3(COL3A1):c.3212G>T (p.Gly1071Val) rs587779709
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000090.3(COL3A1):c.582+5G>A (p.Gly177_Pro194del) rs587779671
NM_000090.3(COL3A1):c.898G>C (p.Gly300Arg) rs587779481
NM_000116.5(TAZ):c.700-5C>T rs782731479
NM_000138.4(FBN1):c.1285C>T (p.Arg429Ter) rs112645512
NM_000138.4(FBN1):c.1468+5G>A rs397515757
NM_000138.4(FBN1):c.1496G>A (p.Cys499Tyr) rs587782944
NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.4(FBN1):c.2127A>C (p.Ala709=) rs886038990
NM_000138.4(FBN1):c.2539+10T>A rs878853679
NM_000138.4(FBN1):c.2861G>A (p.Arg954His) rs112911555
NM_000138.4(FBN1):c.2956G>A (p.Ala986Thr) rs112287730
NM_000138.4(FBN1):c.3020T>G (p.Leu1007Arg) rs794728200
NM_000138.4(FBN1):c.3037G>A (p.Gly1013Arg) rs140593
NM_000138.4(FBN1):c.3058A>G (p.Thr1020Ala) rs111801777
NM_000138.4(FBN1):c.338C>G (p.Ser113Cys) rs869025403
NM_000138.4(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.4(FBN1):c.3571G>A (p.Asp1191Asn) rs370121450
NM_000138.4(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.4(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.4(FBN1):c.4210+1G>A rs730880106
NM_000138.4(FBN1):c.4330T>A (p.Cys1444Ser) rs869025406
NM_000138.4(FBN1):c.4337-1G>T rs1555397424
NM_000138.4(FBN1):c.4453T>C (p.Cys1485Arg) rs730880101
NM_000138.4(FBN1):c.4460-8G>A rs193922204
NM_000138.4(FBN1):c.4935G>A (p.Val1645=) rs886038897
NM_000138.4(FBN1):c.5015G>A (p.Cys1672Tyr) rs140627
NM_000138.4(FBN1):c.5369G>A (p.Arg1790Gln) rs1555396428
NM_000138.4(FBN1):c.5626T>C (p.Cys1876Arg) rs1555395980
NM_000138.4(FBN1):c.6037+1G>A rs1064796636
NM_000138.4(FBN1):c.701G>A (p.Gly234Asp) rs1555401670
NM_000138.4(FBN1):c.7039_7040del (p.Met2347fs) rs794728319
NM_000138.4(FBN1):c.7141C>T (p.Gln2381Ter) rs869025414
NM_000138.4(FBN1):c.7149_7150TG[1] (p.Val2384fs) rs869025423
NM_000138.4(FBN1):c.7499G>A (p.Cys2500Tyr) rs794728160
NM_000138.4(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.4(FBN1):c.7726C>T (p.Arg2576Cys) rs147195031
NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_000138.4(FBN1):c.8521G>T (p.Glu2841Ter) rs587782948
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858
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.639+919G>A rs199473684
NM_000169.2(GLA):c.692A>C (p.Asp231Ala) rs1569303295
NM_000204.4(CFI):c.905-3T>C rs377535161
NM_000215.3(JAK3):c.2773C>A (p.Arg925Ser) rs149452625
NM_000215.3(JAK3):c.678_679del (p.Cys227fs) rs193922364
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met) rs144917638
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177
NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser) rs397515884
NM_000256.3(MYBPC3):c.1153_1168del (p.Val385fs) rs869025465
NM_000256.3(MYBPC3):c.1223+1G>A rs730880639
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.1227-13G>A rs397515893
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377
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.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907
NM_000256.3(MYBPC3):c.1575T>G (p.Tyr525Ter) rs397515910
NM_000256.3(MYBPC3):c.1622dup (p.Glu542fs) rs1555122143
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374
NM_000256.3(MYBPC3):c.1639_1640GT[1] (p.Tyr548fs) rs398123279
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg) rs199728019
NM_000256.3(MYBPC3):c.1826C>T (p.Ala609Val) rs730880553
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn) rs371564200
NM_000256.3(MYBPC3):c.1841A>G (p.Tyr614Cys) rs727503194
NM_000256.3(MYBPC3):c.1869C>A (p.Cys623Ter) rs397515932
NM_000256.3(MYBPC3):c.1934C>T (p.Pro645Leu) rs397515938
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His) rs727503191
NM_000256.3(MYBPC3):c.206G>A (p.Arg69Gln) rs397515945
NM_000256.3(MYBPC3):c.2149-5C>T rs36211722
NM_000256.3(MYBPC3):c.2179G>A (p.Val727Met) rs564378953
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361
NM_000256.3(MYBPC3):c.2381C>T (p.Pro794Leu) rs730880565
NM_000256.3(MYBPC3):c.2432_2434AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2490dup (p.His831fs) rs397515966
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688
NM_000256.3(MYBPC3):c.2541C>G (p.Tyr847Ter) rs397515974
NM_000256.3(MYBPC3):c.26-2A>G rs376395543
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990
NM_000256.3(MYBPC3):c.2905+1G>A rs397515991
NM_000256.3(MYBPC3):c.290C>T (p.Ala97Val) rs397515993
NM_000256.3(MYBPC3):c.3005G>A (p.Arg1002Gln) rs727504235
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958
NM_000256.3(MYBPC3):c.3217dup (p.Arg1073fs) rs730880668
NM_000256.3(MYBPC3):c.3253G>T (p.Glu1085Ter) rs397516010
NM_000256.3(MYBPC3):c.3297dup (p.Tyr1100fs) rs397516014
NM_000256.3(MYBPC3):c.3331-2A>C rs869025469
NM_000256.3(MYBPC3):c.3404_3406ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120
NM_000256.3(MYBPC3):c.357del (p.Ala120fs) rs869025463
NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp) rs727503171
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037
NM_000256.3(MYBPC3):c.3732C>A (p.Cys1244Ter) rs730880600
NM_000256.3(MYBPC3):c.3746G>T (p.Gly1249Val) rs727504259
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr) rs727503167
NM_000256.3(MYBPC3):c.3773T>G (p.Leu1258Ter) rs730880604
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.3825A>G (p.Ter1275Trp) rs727504380
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050
NM_000256.3(MYBPC3):c.503T>C (p.Val168Ala) rs727505267
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser) rs397516070
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074
NM_000256.3(MYBPC3):c.821+1G>A rs397516073
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.833del (p.Gly278fs) rs727503212
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs) rs397516080
NM_000256.3(MYBPC3):c.927-9G>A rs397516083
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776
NM_000257.4(MYH7):c.1106G>C (p.Arg369Pro) rs397516089
NM_000257.4(MYH7):c.1193G>A (p.Gly398Glu) rs730880158
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys) rs148808089
NM_000257.4(MYH7):c.1325G>A (p.Arg442His) rs730880870
NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser) rs730880159
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) rs606231324
NM_000257.4(MYH7):c.1632C>T (p.Thr544=) rs587781089
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser) rs121913626
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627
NM_000257.4(MYH7):c.1888+1G>A rs113186231
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) rs397516127
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076
NM_000257.4(MYH7):c.2163G>T (p.Arg721Ser) rs730880734
NM_000257.4(MYH7):c.2167C>G (p.Arg723Gly) rs121913630
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630
NM_000257.4(MYH7):c.2206A>G (p.Ile736Val) rs397516138
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr) rs727503261
NM_000257.4(MYH7):c.2348G>A (p.Arg783His) rs397516142
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173
NM_000257.4(MYH7):c.2678C>A (p.Ala893Glu) rs727503254
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161
NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys) rs727503253
NM_000257.4(MYH7):c.2711G>A (p.Arg904His) rs397516165
NM_000257.4(MYH7):c.298G>A (p.Ala100Thr) rs730880154
NM_000257.4(MYH7):c.29G>C (p.Gly10Ala) rs730880826
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln) rs587782962
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000257.4(MYH7):c.3622G>A (p.Asp1208Asn) rs730880781
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201
NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr) rs397516202
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln) rs727504325
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln) rs397516207
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp) rs727503278
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser) rs727503244
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101
NM_000257.4(MYH7):c.4487A>C (p.Glu1496Ala) rs397516218
NM_000257.4(MYH7):c.4499G>A (p.Arg1500Gln) rs121913647
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390
NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr) rs200303340
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) rs200939753
NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys) rs730880816
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) rs397516248
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met) rs372381770
NM_000257.4(MYH7):c.5562G>A (p.Thr1854=) rs368706722
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu) rs397516260
NM_000257.4(MYH7):c.707T>C (p.Val236Ala) rs397516262
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000257.4(MYH7):c.789A>G (p.Ile263Met) rs730880855
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro) rs372731424
NM_000258.2(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000258.2(MYL3):c.451G>A (p.Ala151Thr) rs869025486
NM_000267.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_000267.3(NF1):c.61-7486G>T
NM_000270.3(PNP):c.769C>G (p.His257Asp)
NM_000363.5(TNNI3):c.294A>G (p.Arg98=) rs1568858567
NM_000363.5(TNNI3):c.407G>A (p.Arg136Gln) rs730881069
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) rs104894724
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354
NM_000363.5(TNNI3):c.508C>T (p.Arg170Trp) rs727503504
NM_000363.5(TNNI3):c.526G>A (p.Val176Met) rs727503501
NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) rs397516357
NM_000363.5(TNNI3):c.575G>A (p.Arg192His) rs104894729
NM_000363.5(TNNI3):c.624dup (p.Glu209Ter)
NM_000364.4(TNNT2):c.268C>T (p.Pro90Ser) rs397516451
NM_000364.4(TNNT2):c.321G>T (p.Lys107Asn) rs397516459
NM_000364.4(TNNT2):c.446G>A (p.Arg149His) rs397516466
NM_000364.4(TNNT2):c.634C>T (p.Arg212Trp) rs45586240
NM_000364.4(TNNT2):c.755C>T (p.Ala252Val) rs369181536
NM_000383.4(AIRE):c.1616C>T (p.Pro539Leu) rs179363889
NM_000383.4(AIRE):c.21_43dup (p.Arg15delinsHisAlaGlyPheTer)
NM_000383.4(AIRE):c.371C>T (p.Pro124Leu) rs193922417
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000384.3(APOB):c.10294C>G (p.Gln3432Glu) rs1042023
NM_000384.3(APOB):c.6636_6638TGA[1] (p.Asp2213del) rs541497967
NM_000393.5(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser) rs139189200
NM_000393.5(COL5A2):c.3471+8A>T rs367643805
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970
NM_000410.3(HFE):c.187C>G (p.His63Asp) rs1799945
NM_000410.3(HFE):c.193A>T (p.Ser65Cys) rs1800730
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_000416.2(IFNGR1):c.260T>C (p.Ile87Thr) rs104893973
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897
NM_000432.3(MYL2):c.141C>A (p.Asn47Lys) rs199474808
NM_000432.3(MYL2):c.173G>A (p.Arg58Gln) rs104894369
NM_000432.3(MYL2):c.239C>A (p.Thr80Asn) rs587782965
NM_000432.3(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_000433.3(NCF2):c.113G>A (p.Arg38Gln) rs147415774
NM_000448.2(RAG1):c.1210C>T (p.Arg404Trp)
NM_000448.2(RAG1):c.1303A>G (p.Met435Val) rs141524540
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542
NM_000527.4(LDLR):c.1291G>A (p.Ala431Thr) rs28942079
NM_000527.4(LDLR):c.1468T>C (p.Trp490Arg) rs730880130
NM_000527.4(LDLR):c.2043C>A (p.Cys681Ter) rs121908031
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu) rs193922572
NM_000593.5(TAP1):c.1727C>T (p.Pro576Leu) rs2228106
NM_000719.7(CACNA1C):c.1114-316G>A rs587782933
NM_000719.7(CACNA1C):c.2542_2544GAG[2] (p.Glu850del) rs575583988
NM_000719.7(CACNA1C):c.2579G>C (p.Arg860Pro) rs730880056
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325
NM_000722.4(CACNA2D1):c.2264G>C (p.Ser755Thr) rs151327713
NM_001005242.3(PKP2):c.2014-1G>C rs193922674
NM_001006658.2(CR2):c.1676G>A (p.Gly559Glu) rs143614333
NM_001009944.3(PKD1):c.10420C>T (p.Gln3474Ter) rs1064794206
NM_001009944.3(PKD1):c.12003+14_12003+33del rs1567148835
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter) rs755496450
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg) rs747362311
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys)
NM_001018004.2(TPM1):c.775A>G (p.Lys259Glu) rs144045691
NM_001018005.2(TPM1):c.160G>A (p.Glu54Lys) rs104894505
NM_001018005.2(TPM1):c.375-3C>T rs202228866
NM_001018005.2(TPM1):c.515T>C (p.Ile172Thr) rs199476312
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316
NM_001018005.2(TPM1):c.82G>C (p.Asp28His) rs397516391
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001035.3(RYR2):c.11570A>G (p.Tyr3857Cys) rs587782975
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr) rs397516510
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe) rs121918604
NM_001035.3(RYR2):c.14635C>A (p.Gln4879Lys) rs730880200
NM_001035.3(RYR2):c.1847C>T (p.Ser616Leu) rs730880187
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623
NM_001035.3(RYR2):c.2389G>A (p.Gly797Arg) rs200121281
NM_001035.3(RYR2):c.2630A>C (p.His877Pro) rs561321743
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys) rs193922624
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962
NM_001035.3(RYR2):c.365G>A (p.Arg122His) rs727503396
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897
NM_001035.3(RYR2):c.8209-4T>C rs371966353
NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser) rs201081663
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile) rs72558029
NM_001037.5(SCN1B):c.448+112G>A rs72558026
NM_001099404.1(SCN5A):c.1714_1715delinsTT (p.Ala572Phe) rs730880211
NM_001099404.1(SCN5A):c.4847_4849TCT[1] (p.Phe1617del) rs749697698
NM_001105206.3(LAMA4):c.1962G>A (p.Ala654=) rs140246538
NM_001105206.3(LAMA4):c.1999G>T (p.Asp667Tyr) rs397516720
NM_001105206.3(LAMA4):c.2614C>G (p.Pro872Ala) rs180931319
NM_001110556.2(FLNA):c.676C>T (p.Arg226Ter) rs1569551861
NM_001127698.2(SPINK5):c.891C>T (p.Cys297=) rs752941297
NM_001128147.3(NF1):c.1017_1018CT[1] (p.Ser340fs) rs1555610903
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg) rs138268837
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser) rs267607002
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004
NM_001134363.3(RBM20):c.2089G>A (p.Gly697Arg) rs376463335
NM_001134363.3(RBM20):c.2565_2570del (p.Gln856_Glu857del) rs397516603
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser) rs727503392
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318
NM_001134363.3(RBM20):c.3574-6C>G rs762069628
NM_001135599.3(TGFB2):c.475C>T (p.Arg159Ter) rs869025531
NM_001135599.3(TGFB2):c.703G>C (p.Val235Leu) rs10482810
NM_001135599.3(TGFB2):c.905dup (p.Asn302fs) rs863223796
NM_001148.6(ANK2):c.10708G>A (p.Glu3570Lys) rs180843436
NM_001148.6(ANK2):c.10881T>G (p.His3627Gln) rs148405740
NM_001148.6(ANK2):c.11198_11200del (p.Gly3733del) rs730880049
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705
NM_001148.6(ANK2):c.4744C>T (p.Arg1582Trp) rs35249198
NM_001148.6(ANK2):c.6206G>A (p.Arg2069His) rs149645600
NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser) rs869025431
NM_001178098.2(CD19):c.1638del (p.Gly547fs) rs774006181
NM_001195798.2(LDLR):c.1476_1477CT[1] (p.Ser493fs) rs869025453
NM_001195798.2(LDLR):c.1486_1487del (p.Gly496fs) rs869025454
NM_001204.7(BMPR2):c.1276G>C (p.Gly426Arg) rs869025367
NM_001234.5(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_001256850.1(TTN):c.92569+1G>C rs727505319
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala) rs201218828
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) rs573843615
NM_001267550.2(TTN):c.12870dup (p.Val4291fs) rs869025556
NM_001267550.2(TTN):c.2227G>A (p.Ala743Thr) rs370728359
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys) rs199557654
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val) rs72648994
NM_001267550.2(TTN):c.2775+4G>A rs548681281
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011
NM_001267550.2(TTN):c.32731G>A (p.Glu10911Lys) rs199620003
NM_001267550.2(TTN):c.33501_33503AGA[6] (p.Glu11172dup) rs368327166
NM_001267550.2(TTN):c.34241_34243AAG[2] (p.Glu11416del) rs397517549
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064
NM_001267550.2(TTN):c.40408+8del rs727504922
NM_001267550.2(TTN):c.41609-2A>C rs730880244
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485
NM_001267550.2(TTN):c.45322C>T (p.Arg15108Ter) rs1060500405
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225
NM_001267550.2(TTN):c.46222G>A (p.Ala15408Thr) rs730880239
NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter) rs374140736
NM_001267550.2(TTN):c.50858-3C>T rs587782987
NM_001267550.2(TTN):c.56963-3C>T rs375979145
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) rs72646831
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter) rs794729275
NM_001267550.2(TTN):c.57770G>A (p.Arg19257Gln) rs202076328
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.75250C>T (p.Arg25084Ter) rs794729286
NM_001267550.2(TTN):c.76373del (p.Pro25458fs) rs869025553
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter) rs770038577
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs) rs779129892
NM_001267550.2(TTN):c.95415C>A (p.Phe31805Leu) rs587780983
NM_001267550.2(TTN):c.9955G>A (p.Val3319Ile) rs375533809
NM_001269039.2(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_001276345.2(TNNT2):c.136G>C (p.Ala46Pro) rs397516447
NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu) rs727504331
NM_001276345.2(TNNT2):c.720-4G>T rs201753429
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp) rs45466197
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His) rs141121678
NM_001278074.1(COL5A1):c.4020A>G (p.Pro1340=) rs776564144
NM_001278074.1(COL5A1):c.4230+5C>T rs142248898
NM_001278074.1(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_001278074.1(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_001282225.2(ADA2):c.144dup (p.Arg49fs) rs756881285
NM_001282225.2(ADA2):c.927G>A (p.Met309Ile) rs146597836
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929
NM_001301365.1(LYST):c.3683A>G (p.Asn1228Ser)
NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val) rs727502788
NM_001330.3(CTF1):c.274G>A (p.Ala92Thr) rs2234933
NM_001330368.2(C11orf65):c.641-18595dup rs587781299
NM_001351834.2(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_001364171.2(CCDC114):c.697C>T (p.Arg233Trp) rs200168343
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217
NM_001364905.1(LRBA):c.787C>G (p.Leu263Val) rs143625481
NM_001364905.1(LRBA):c.8551C>T (p.Arg2851Cys) rs145709687
NM_001369.2(DNAH5):c.10616G>A (p.Arg3539His) rs769458738
NM_001390.4(DTNA):c.1249C>T (p.Arg417Trp) rs199867593
NM_001613.4(ACTA2):c.115C>T (p.Arg39Cys) rs112901682
NM_001613.4(ACTA2):c.116G>A (p.Arg39His) rs794728021
NM_001613.4(ACTA2):c.215C>T (p.Pro72Leu) rs1060500134
NM_001613.4(ACTA2):c.419C>T (p.Ala140Val) rs397516683
NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln) rs397516685
NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn) rs727502878
NM_001613.4(ACTA2):c.772C>T (p.Arg258Cys) rs121434528
NM_001770.5(CD19):c.1303+1G>C rs372929312
NM_001927.4(DES):c.1048C>T (p.Arg350Trp) rs62636492
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171
NM_001927.4(DES):c.735G>A (p.Glu245=) rs267607486
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_001943.5(DSG2):c.1063G>A (p.Ala355Thr) rs201046640
NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr) rs758537946
NM_001943.5(DSG2):c.1643G>A (p.Arg548His) rs551034751
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_001943.5(DSG2):c.2192A>C (p.Gln731Pro) rs202063433
NM_001943.5(DSG2):c.3055_3056AG[2] (p.Glu1020fs) rs397516706
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu) rs137854448
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn) rs150194093
NM_002230.4(JUP):c.1366G>A (p.Val456Ile) rs78437817
NM_002230.4(JUP):c.1807G>T (p.Val603Leu) rs200327969
NM_002230.4(JUP):c.560C>T (p.Ala187Val) rs782370709
NM_002230.4(JUP):c.902A>G (p.Glu301Gly) rs782058451
NM_002471.3(MYH6):c.1763A>C (p.Asp588Ala) rs142992009
NM_002471.3(MYH6):c.2591C>T (p.Thr864Met) rs200153625
NM_002471.3(MYH6):c.3105+9T>C rs1555333942
NM_002471.3(MYH6):c.4136C>T (p.Thr1379Met) rs145611185
NM_002471.3(MYH6):c.643-5C>T rs199859986
NM_002471.3(MYH6):c.67C>T (p.Arg23Cys) rs587782959
NM_002474.3(MYH11):c.1871G>A (p.Arg624His) rs201991156
NM_002474.3(MYH11):c.2135G>A (p.Arg712Gln) rs267606902
NM_002474.3(MYH11):c.3757_3759AAG[3] (p.Lys1256del) rs730880147
NM_002474.3(MYH11):c.4578+2dup rs794728677
NM_002474.3(MYH11):c.4604G>A (p.Arg1535Gln) rs137934837
NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met) rs111854563
NM_002474.3(MYH11):c.5336C>T (p.Thr1779Met) rs201960644
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461
NM_002485.4(NBN):c.2015C>T (p.Pro672Leu) rs6413508
NM_002667.5(PLN):c.116T>G (p.Leu39Ter) rs111033560
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.4(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.4(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_002834.4(PTPN11):c.166A>G (p.Ile56Val) rs397507504
NM_002834.4(PTPN11):c.214G>C (p.Ala72Pro) rs121918453
NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002880.3(RAF1):c.769T>C (p.Ser257Pro) rs727505017
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.3(RAF1):c.779C>T (p.Thr260Ile) rs869025501
NM_002880.3(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_002880.3(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_002880.3(RAF1):c.785A>T (p.Asn262Ile) rs730881010
NM_002880.3(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_003036.4(SKI):c.1081G>A (p.Gly361Ser) rs759663808
NM_003036.4(SKI):c.1568C>T (p.Ser523Leu) rs730880212
NM_003098.2(SNTA1):c.589C>T (p.Arg197Trp) rs530603992
NM_003098.2(SNTA1):c.784A>C (p.Thr262Pro) rs200316080
NM_003239.4(TGFB3):c.646+13T>C rs780891440
NM_003239.4(TGFB3):c.898C>T (p.Arg300Trp) rs796051885
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn) rs727504421
NM_003319.4(TTN):c.80585_80595delinsTGAAAGAAAAA (p.Glu26862_Trp26865delinsValLysGluLys) rs281864927
NM_003361.3(UMOD):c.317G>T (p.Cys106Phe) rs398123697
NM_003476.5(CSRP3):c.16G>A (p.Gly6Arg) rs185980145
NM_003476.5(CSRP3):c.299G>A (p.Arg100His) rs138218523
NM_003673.3(TCAP):c.421C>G (p.Pro141Ala) rs45509691
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val) rs104894709
NM_003803.3(MYOM1):c.1978C>G (p.Pro660Ala) rs201104206
NM_003803.3(MYOM1):c.3190C>T (p.His1064Tyr) rs755409090
NM_003998.4(NFKB1):c.904dup (p.Ser302fs) rs773694113
NM_004006.2(DMD):c.1337A>G (p.His446Arg) rs72468699
NM_004006.2(DMD):c.1713T>A (p.Phe571Leu) rs587782936
NM_004006.2(DMD):c.531-11_531-6del rs758404687
NM_004006.2(DMD):c.5701G>A (p.Ala1901Thr) rs201302282
NM_004281.3(BAG3):c.1363G>A (p.Glu455Lys) rs397516881
NM_004333.6(BRAF):c.1460T>G (p.Val487Gly) rs397516893
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004333.6(BRAF):c.785A>C (p.Gln262Pro) rs397516904
NM_004415.3(DSP):c.2131_2132delAG (p.Ser711Cysfs) rs587782927
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) rs397516915
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser) rs34239595
NM_004415.4(DSP):c.2569G>A (p.Gly857Ser) rs548695484
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) rs730880082
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter) rs121912997
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile) rs200243976
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451
NM_004415.4(DSP):c.5379+8C>G rs771984464
NM_004415.4(DSP):c.5441G>A (p.Ser1814Asn) rs730880085
NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter) rs869025395
NM_004415.4(DSP):c.598-4G>A rs747448946
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693
NM_004517.4(ILK):c.157T>A (p.Leu53Met) rs200336608
NM_004517.4(ILK):c.631C>T (p.Arg211Cys) rs140322345
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.1162C>T (p.Arg388Trp) rs766209297
NM_004572.3(PKP2):c.1378+1G>C rs397516994
NM_004572.3(PKP2):c.1576A>G (p.Thr526Ala) rs397516999
NM_004572.3(PKP2):c.1592T>G (p.Ile531Ser) rs147240502
NM_004572.3(PKP2):c.1613G>A (p.Trp538Ter) rs193922672
NM_004572.3(PKP2):c.1974A>G (p.Gln658=) rs138901574
NM_004572.3(PKP2):c.2062T>C (p.Ser688Pro) rs144601090
NM_004572.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_004572.3(PKP2):c.964G>T (p.Gly322Cys) rs200069860
NM_004612.4(TGFBR1):c.707C>T (p.Ser236Phe) rs863223812
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636
NM_004612.4(TGFBR1):c.935G>A (p.Gly312Asp) rs869025535
NM_004646.3(NPHS1):c.1339G>A (p.Glu447Lys) rs28939695
NM_004646.3(NPHS1):c.1610C>T (p.Thr537Met) rs368913905
NM_004646.3(NPHS1):c.1802G>C (p.Gly601Ala) rs114615449
NM_004646.3(NPHS1):c.2398C>T (p.Arg800Cys) rs114896482
NM_004646.3(NPHS1):c.528T>C (p.Ser176=) rs539716201
NM_004980.4(KCND3):c.641A>G (p.Lys214Arg) rs142744204
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680
NM_005188.3(CBL):c.1111T>C (p.Tyr371His) rs267606706
NM_005214.5(CTLA4):c.118G>A (p.Val40Met) rs1553657378
NM_005343.4(HRAS):c.277A>G (p.Ile93Val) rs587782949
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.367C>T (p.Arg123Cys) rs369106578
NM_005343.4(HRAS):c.64C>A (p.Gln22Lys) rs121917757
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly) rs560874115
NM_005633.3(SOS1):c.1642A>C (p.Ser548Arg) rs397517149
NM_005633.3(SOS1):c.1654A>T (p.Arg552Trp) rs137852814
NM_005633.3(SOS1):c.3703C>T (p.Pro1235Ser) rs397517168
NM_005691.3(ABCC9):c.1909G>A (p.Val637Ile) rs113542001
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter) rs201754030
NM_005751.4(AKAP9):c.1099G>A (p.Val367Met) rs138161478
NM_005751.4(AKAP9):c.3580G>A (p.Ala1194Thr) rs139965373
NM_005751.4(AKAP9):c.4825_4826delinsCA (p.Arg1609Gln) rs786205707
NM_005751.4(AKAP9):c.5369T>G (p.Val1790Gly) rs151021935
NM_005751.4(AKAP9):c.8345C>T (p.Thr2782Ile) rs543634397
NM_005751.4(AKAP9):c.8656A>G (p.Ile2886Val) rs143283097
NM_005902.4(SMAD3):c.364G>A (p.Val122Met) rs587782977
NM_005902.4(SMAD3):c.733G>A (p.Gly245Arg) rs863223737
NM_005902.4(SMAD3):c.859C>T (p.Arg287Trp) rs387906850
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln) rs730880214
NM_006231.3(POLE):c.3373C>T (p.Arg1125Ter) rs139603739
NM_006440.5(TXNRD2):c.174C>T (p.Ala58=) rs767236339
NM_006785.4(MALT1):c.571C>T (p.Arg191Ter)
NM_006888.6(CALM1):c.161A>T (p.Asn54Ile) rs267607276
NM_006888.6(CALM1):c.293A>G (p.Asn98Ser) rs267607277
NM_006892.4(DNMT3B):c.143-9C>G rs377138079
NM_006904.6(PRKDC):c.3709G>A (p.Ala1237Thr) rs191531119
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser) rs61736587
NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile) rs200796750
NM_007078.3(LDB3):c.352G>A (p.Val118Met) rs35507268
NM_007078.3(LDB3):c.466G>A (p.Ala156Thr) rs200596619
NM_007214.5(SEC63):c.452+1G>A rs869312977
NM_012452.2(TNFRSF13B):c.260T>A (p.Ile87Asn) rs72553877
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_012452.2(TNFRSF13B):c.512T>G (p.Leu171Arg) rs143027621
NM_012452.2(TNFRSF13B):c.568G>C (p.Gly190Arg)
NM_013266.4(CTNNA3):c.2573T>C (p.Leu858Ser) rs41313840
NM_013995.2(LAMP2):c.795C>A (p.Cys265Ter) rs730880483
NM_013995.2(LAMP2):c.929-5T>C rs375341409
NM_014000.2(VCL):c.1555A>C (p.Ile519Leu) rs141033098
NM_014000.2(VCL):c.1907A>G (p.His636Arg) rs71579374
NM_014391.2(ANKRD1):c.820T>C (p.Tyr274His) rs377074932
NM_014425.5(INVS):c.1807C>T (p.Arg603Ter) rs121964994
NM_014625.3(NPHS2):c.686G>A (p.Arg229Gln) rs61747728
NM_014646.2(LPIN2):c.1168+6C>T rs200130790
NM_014646.2(LPIN2):c.2671G>A (p.Asp891Asn) rs200648652
NM_015141.3(GPD1L):c.370A>G (p.Ile124Val) rs72552293
NM_015141.3(GPD1L):c.520G>A (p.Glu174Lys) rs112122950
NM_016038.4(SBDS):c.258+2T>C rs113993993
NM_016938.5(EFEMP2):c.934A>G (p.Thr312Ala) rs148410446
NM_017617.5(NOTCH1):c.1342C>T (p.Arg448Ter) rs869025494
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys) rs79782048
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358
NM_017617.5(NOTCH1):c.2812C>T (p.Arg938Trp) rs554142958
NM_017617.5(NOTCH1):c.3172-5C>T
NM_017617.5(NOTCH1):c.3901+3G>A rs373113999
NM_017636.4(TRPM4):c.1082T>G (p.Leu361Arg) rs148763371
NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr) rs201907325
NM_017636.4(TRPM4):c.1682A>C (p.Asp561Ala) rs56355369
NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser) rs172149856
NM_017636.4(TRPM4):c.308A>G (p.Tyr103Cys) rs144781529
NM_017802.4(DNAAF5):c.2345A>G (p.Tyr782Cys) rs61755909
NM_018400.3(SCN3B):c.60T>G (p.Ser20Arg) rs771342044
NM_020433.4(JPH2):c.482C>A (p.Thr161Lys) rs587782951
NM_020778.4(ALPK3):c.431_435CCAGG[3] (p.Glu148fs) rs527847958
NM_022436.3(ABCG5):c.978del (p.Glu326fs) rs869025350
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951
NM_024422.6(DSC2):c.1264-4G>A rs377439942
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr) rs561310777
NM_024422.6(DSC2):c.1901G>A (p.Arg634His) rs200475862
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019
NM_024422.6(DSC2):c.2365_2367GGA[1] (p.Gly790del) rs377272752
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys) rs142410803
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937
NM_024426.6(WT1):c.1447+4C>T rs587776577
NM_024426.6(WT1):c.764T>A (p.Met255Lys) rs377573993
NM_030662.3(MAP2K2):c.400T>C (p.Tyr134His) rs121434499
NM_030662.3(MAP2K2):c.619G>A (p.Glu207Lys) rs727504382
NM_032415.6(CARD11):c.1595C>T (p.Thr532Met) rs201780608
NM_032415.6(CARD11):c.2921G>A (p.Arg974His)
NM_032415.6(CARD11):c.3145-3C>T rs200456391
NM_032415.6(CARD11):c.88C>T (p.Arg30Trp) rs145474800
NM_032578.3(MYPN):c.3124C>T (p.Arg1042Cys) rs151282801
NM_032578.3(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278
NM_032578.3(MYPN):c.3886T>A (p.Ser1296Thr) rs199585352
NM_032578.3(MYPN):c.59A>G (p.Tyr20Cys) rs140148105
NM_032588.3(TRIM63):c.739C>T (p.Gln247Ter) rs148395034
NM_033360.4(KRAS):c.*12A>G rs104894360
NM_033360.4(KRAS):c.108A>G (p.Ile36Met) rs727503109
NM_033360.4(KRAS):c.439A>G (p.Lys147Glu) rs387907206
NM_052813.4(CARD9):c.1341C>T (p.Thr447=)
NM_133378.4(TTN):c.13451-7C>T rs371785683
NM_133378.4(TTN):c.17672-4A>G rs72648965
NM_133379.5(TTN):c.7057+2dup rs765019023
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg) rs777377414
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.4(PKHD1):c.1116C>G (p.Phe372Leu)
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter) rs137852949
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg) rs773136605
NM_138694.4(PKHD1):c.3089C>T (p.Ala1030Val) rs777976050
NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp) rs794727466
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) rs752994816
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys)
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter) rs398124498
NM_139276.2(STAT3):c.1144C>T (p.Arg382Trp) rs113994135
NM_139276.2(STAT3):c.1988C>T (p.Thr663Ile) rs869312889
NM_144573.3(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197
NM_144573.3(NEXN):c.835C>T (p.Arg279Cys) rs146245480
NM_144573.3(NEXN):c.865-5G>A rs727505353
NM_145046.4(CALR3):c.245A>G (p.Lys82Arg) rs142951029
NM_153240.5(NPHP3):c.1817G>A (p.Trp606Ter) rs182135982
NM_153240.5(NPHP3):c.406del (p.Thr136fs) rs1379989124
NM_153240.5(NPHP3):c.974T>C (p.Leu325Pro) rs1560014265
NM_153240.5(NPHP3):c.985T>C (p.Cys329Arg) rs766285779
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys) rs374726751
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) rs61094188
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613
NM_170707.4(LMNA):c.448A>G (p.Thr150Ala) rs58917027
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) rs794728591
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906
NM_170707.4(LMNA):c.859del (p.Ala287fs) rs59564495
NM_170707.4(LMNA):c.937-8C>A rs751707982
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) rs56851164
NM_172056.2(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428
NM_172056.2(KCNH2):c.1801G>A (p.Gly601Ser) rs199472936
NM_172056.2(KCNH2):c.1847A>G (p.Tyr616Cys) rs199472946
NM_172056.2(KCNH2):c.2320G>T (p.Asp774Tyr) rs199472995
NM_172056.2(KCNH2):c.2350C>T (p.Arg784Trp) rs12720441
NM_172056.2(KCNH2):c.473-7C>T rs146570628
NM_172056.2(KCNH2):c.526C>T (p.Arg176Trp) rs36210422
NM_172056.2(KCNH2):c.916G>C (p.Gly306Arg) rs199472884
NM_172056.2(KCNH2):c.982C>T (p.Arg328Cys) rs199473505
NM_172057.2(KCNH2):c.1672+8G>A rs200032281
NM_172057.2(KCNH2):c.1718C>T (p.Ala573Val) rs77331749
NM_172057.2(KCNH2):c.2113C>T (p.Leu705Phe) rs199473025
NM_172201.1(KCNE2):c.79C>T (p.Arg27Cys) rs74315449
NM_181523.3(PIK3R1):c.1425+1G>A rs587777709
NM_182914.2(SYNE2):c.7898A>G (p.Asn2633Ser) rs190582637
NM_198056.2(SCN5A):c.103G>A (p.Gly35Ser) rs199473552
NM_198056.2(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_198056.2(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235
NM_198056.2(SCN5A):c.2770G>A (p.Val924Ile) rs199473177
NM_198056.2(SCN5A):c.3352C>T (p.Gln1118Ter) rs869025520
NM_198056.2(SCN5A):c.3578G>A (p.Arg1193Gln) rs41261344
NM_198056.2(SCN5A):c.393-5C>A rs368678204
NM_198056.2(SCN5A):c.4534C>T (p.Arg1512Trp) rs137854602
NM_198056.2(SCN5A):c.4931G>A (p.Arg1644His) rs28937316
NM_198056.2(SCN5A):c.4978A>G (p.Ile1660Val) rs199473625
NM_198056.2(SCN5A):c.4981G>A (p.Gly1661Arg) rs199473292
NM_198056.2(SCN5A):c.52C>T (p.Arg18Trp) rs199473044
NM_198056.2(SCN5A):c.5350G>A (p.Glu1784Lys) rs137854601
NM_198056.2(SCN5A):c.559A>G (p.Thr187Ala) rs869025517
NM_198056.2(SCN5A):c.568C>G (p.Arg190Gly) rs199473068
NM_198056.2(SCN5A):c.5851G>A (p.Val1951Met) rs41315493
NM_198056.2(SCN5A):c.5851G>T (p.Val1951Leu) rs41315493
NM_198056.2(SCN5A):c.6016C>G (p.Pro2006Ala) rs45489199
NM_198056.2(SCN5A):c.659C>T (p.Thr220Ile) rs45620037
NM_198056.2(SCN5A):c.739G>C (p.Val247Leu) rs199473078
NM_198056.2(SCN5A):c.998+5G>A rs187531872
NM_201590.2(CACNB2):c.1044+4_1044+7dupAGTA rs1456201116
NM_201590.3(CACNB2):c.1480G>A (p.Gly494Ser) rs730880059
NM_201590.3(CACNB2):c.172-8C>T rs374465425
NM_213569.2(NEBL):c.357+73473C>G rs147622517
NR_023343.1(RNU4ATAC):n.13C>T rs559979281
NR_023343.1(RNU4ATAC):n.46G>A

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