ClinVar Miner

Variants from Biesecker Lab/Human Development Section,National Institutes of Health with conflicting interpretations

Location: United States — Primary collection method: research
Minimum review status of the submission from Biesecker Lab/Human Development Section,National Institutes of Health: Collection method of the submission from Biesecker Lab/Human Development Section,National Institutes of Health:
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
501 440 319 579 775 11 96 1282

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
Biesecker Lab/Human Development Section,National Institutes of Health pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor other
pathogenic 2 8 0 1 0 1 3 0
likely pathogenic 3 2 3 0 0 0 0 0
uncertain significance 32 20 201 346 172 0 1 0
likely benign 24 13 297 27 187 0 1 0
benign 10 8 105 381 87 1 4 2

Submitter to submitter summary #

Total submitters: 104
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 0 694 164 150 330 1 4 649
GeneDx 0 663 105 115 293 1 10 524
Ambry Genetics 0 512 140 116 238 0 9 503
Illumina Clinical Services Laboratory,Illumina 0 125 37 275 173 0 1 485
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 552 56 114 197 0 4 371
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 308 83 81 128 0 1 292
Color 0 121 96 30 118 0 2 246
PreventionGenetics 0 206 108 39 53 0 0 200
Integrated Genetics/Laboratory Corporation of America 0 88 78 45 67 0 3 193
Genetic Services Laboratory, University of Chicago 0 98 19 82 60 0 0 161
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 67 64 29 42 0 0 135
Counsyl 0 8 90 8 31 0 2 131
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 143 8 63 48 0 0 119
Department of Pathology and Laboratory Medicine,Sinai Health System 0 5 48 15 33 0 1 97
CSER_CC_NCGL; University of Washington Medical Center 0 31 25 15 51 0 1 91
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 4 46 11 21 0 1 79
OMIM 0 6 4 0 20 9 48 77
True Health Diagnostics 0 3 34 14 22 1 0 71
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 14 28 17 24 0 0 69
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 36 30 18 20 0 1 69
Quest Diagnostics Nichols Institute San Juan Capistrano 0 6 42 5 21 0 0 65
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 43 23 25 12 0 1 61
Mendelics 0 4 42 2 13 0 1 58
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 28 17 23 17 0 0 57
Athena Diagnostics Inc 0 76 7 26 19 0 0 52
Sharing Clinical Reports Project (SCRP) 0 5 25 7 19 0 0 51
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 29 27 13 10 0 1 51
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 5 23 8 19 0 0 50
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 31 0 6 43 0 0 49
Pathway Genomics 0 4 20 14 12 0 0 46
CeGaT Praxis fuer Humangenetik Tuebingen 0 10 7 6 29 0 3 45
Michigan Medical Genetics Laboratories,University of Michigan 0 3 24 6 12 0 0 42
Blueprint Genetics, 0 35 0 12 25 1 2 39
Fulgent Genetics 0 30 27 8 2 0 1 38
Breast Cancer Information Core (BIC) (BRCA2) 0 8 23 8 5 0 0 36
Vantari Genetics 0 1 18 7 8 0 0 33
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 45 0 13 18 1 1 33
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 2 19 4 5 0 0 28
GeneKor MSA 0 3 24 2 0 1 0 27
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 16 6 2 17 0 1 26
Breast Cancer Information Core (BIC) (BRCA1) 0 4 16 2 7 0 0 25
Baylor Miraca Genetics Laboratories, 0 3 17 1 4 0 0 22
Center for Human Genetics, Inc 0 3 8 2 11 0 0 21
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 4 8 5 7 0 0 20
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 7 3 1 9 0 2 15
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 8 1 4 0 0 13
Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research 0 1 4 1 5 0 2 12
GeneReviews 0 4 4 0 1 0 6 11
University of Washington Department of Laboratory Medicine,University of Washington 0 4 2 0 7 1 0 10
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 2 3 0 6 0 0 9
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 2 3 1 5 0 0 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 5 2 1 4 0 1 8
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 5 4 2 2 0 0 8
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University,Faculty of Medicine Ramathibodi Hospital, Mahidol University 0 0 7 0 0 0 0 7
Department of Pathology and Molecular Medicine,Queen's University 0 1 3 1 3 0 0 7
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 2 0 2 2 0 2 6
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 4 0 4 2 0 0 6
Division of Human Genetics,Children's Hospital of Philadelphia 0 2 0 0 6 0 0 6
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 0 0 0 0 0 0 6 6
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 0 0 0 4 0 1 5
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 0 0 2 2 0 1 5
IntelligeneCG 0 0 5 0 0 0 0 5
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 0 1 1 0 4 0 0 5
Phosphorus, Inc. 0 5 0 1 3 0 1 5
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 1 1 2 2 0 0 5
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 4 2 0 1 0 1 4
Database of Curated Mutations (DoCM) 0 1 0 0 0 0 4 4
Department of Medical Genetics,University Hospital of North Norway 0 0 1 2 1 0 0 4
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 4 0 0 4 0 0 4
ARUP Institute,ARUP Laboratories 0 0 2 0 1 0 1 4
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 3 0 1 2 0 1 4
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 4 0 0 0 0 4
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 1 0 2 3
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 3 0 0 0 2 1 3
Medical Research Institute,Tokyo Medical and Dental University 0 0 0 0 0 0 3 3
SIB Swiss Institute of Bioinformatics 0 1 1 2 0 0 0 3
3DMed Clinical Laboratory Inc 0 0 2 0 0 0 1 3
ClinGen CDH1 Variant Curation Expert Panel 0 0 1 0 2 0 0 3
PharmGKB 0 0 0 0 0 2 0 2
Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute 0 0 0 0 0 0 2 2
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 0 0 1 0 1 2
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 0 0 2 0 0 2
Snyder Lab, Genetics Department,Stanford University 0 0 0 1 0 1 0 2
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 0 0 0 0 1 0 1 2
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 55 0 0 1 0 0 1
Systems Biology Platform Zhejiang California International NanoSystems Institute 0 0 0 0 0 1 0 1
Wellcome Centre for Mitochondrial Research,Newcastle University 0 0 0 0 0 0 1 1
Department of Genetics, Reproduction and Fetal Medicine.,Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. 0 0 0 0 1 0 0 1
Department of Neurology, University Hospital of Strasbourg 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1 1
Endocrine Unit 2,University Hospital of Pisa 0 0 0 0 1 0 0 1
Center for Human Genetics,University of Leuven 0 1 0 0 1 0 0 1
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University 0 0 1 0 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 0 0 0 1 1
Erich and Hanna Klessmann Institute for Cardiovascular Research and Development,Heart and Diabetes Center North Rhine-Westphalia 0 1 0 0 1 0 0 1
Endocrine oncology group,Uppsala University 0 0 0 1 0 0 0 1
AlTemaimi Lab, Faculty of Medicine,Kuwait University 0 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 0 1 0 0 1
Dept. of Medical Genetics, Telemark Hospital Trust 0 0 0 0 0 0 1 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 1 0 0 0 0 1
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 0 0 0 0 0 0 1 1
ClinGen PTEN Variant Curation Expert Panel 0 0 0 0 1 0 0 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 1 1 0 0 0 0 1

All variants with conflicting interpretations #

Total variants: 1282
Download table as spreadsheet
HGVS dbSNP
NM_000021.3(PSEN1):c.953A>G (p.Glu318Gly) rs17125721
NM_000021.3(PSEN1):c.998A>G (p.Asp333Gly) rs121917809
NM_000038.5(APC):c.1240C>T (p.Arg414Cys) rs137854567
NM_000038.5(APC):c.1495C>G (p.Arg499Gly) rs137854580
NM_000038.5(APC):c.1604C>T (p.Ser535Phe) rs75870842
NM_000038.5(APC):c.1631T>C (p.Ile544Thr) rs144056494
NM_000038.5(APC):c.2204C>T (p.Ala735Val) rs147655929
NM_000038.5(APC):c.2297C>T (p.Ala766Val) rs200339830
NM_000038.5(APC):c.2438A>G (p.Asn813Ser) rs201522866
NM_000038.5(APC):c.2608C>T (p.Pro870Ser) rs33974176
NM_000038.5(APC):c.2677G>A (p.Glu893Lys) rs199740875
NM_000038.5(APC):c.3173A>G (p.Asp1058Gly) rs148725540
NM_000038.5(APC):c.317G>A (p.Arg106His) rs201764637
NM_000038.5(APC):c.3249T>G (p.Asp1083Glu) rs201629780
NM_000038.5(APC):c.3352A>G (p.Asn1118Asp) rs140493115
NM_000038.5(APC):c.3386T>C (p.Leu1129Ser) rs143638171
NM_000038.5(APC):c.3468_3470delAGA (p.Glu1157del) rs386833391
NM_000038.5(APC):c.3479C>A (p.Thr1160Lys) rs201004111
NM_000038.5(APC):c.379A>G (p.Ser127Gly) rs200089324
NM_000038.5(APC):c.388A>G (p.Ser130Gly) rs150973053
NM_000038.5(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.5(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000038.5(APC):c.420G>C (p.Glu140Asp) rs202161017
NM_000038.5(APC):c.4372C>T (p.Pro1458Ser) rs143796828
NM_000038.5(APC):c.4375_4377delACT (p.Thr1459del) rs386833393
NM_000038.5(APC):c.5225G>A (p.Arg1742His) rs199775075
NM_000038.5(APC):c.5392A>G (p.Asn1798Asp) rs200794097
NM_000038.5(APC):c.53T>A (p.Met18Lys) rs200960071
NM_000038.5(APC):c.607C>G (p.Gln203Glu) rs141576417
NM_000038.5(APC):c.6724A>G (p.Ser2242Gly) rs201375478
NM_000038.5(APC):c.6821C>T (p.Ala2274Val) rs34919187
NM_000038.5(APC):c.6873A>T (p.Gln2291His) rs148878262
NM_000038.5(APC):c.695G>A (p.Arg232Gln) rs201727026
NM_000038.5(APC):c.7036C>T (p.Pro2346Ser) rs200756935
NM_000038.5(APC):c.7415C>T (p.Ala2472Val) rs200399245
NM_000038.5(APC):c.7504G>A (p.Gly2502Ser) rs2229995
NM_000038.5(APC):c.7717A>G (p.Ile2573Val) rs145444830
NM_000038.5(APC):c.7757G>T (p.Ser2586Ile) rs199806334
NM_000038.5(APC):c.7766A>G (p.Glu2589Gly) rs200406572
NM_000038.5(APC):c.7862C>G (p.Ser2621Cys) rs72541816
NM_000038.5(APC):c.7888G>A (p.Val2630Ile) rs199688874
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552
NM_000059.3(BRCA2):c.10111A>G (p.Thr3371Ala) rs80358393
NM_000059.3(BRCA2):c.1022G>T (p.Cys341Phe) rs80358403
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.3(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.3(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475
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.1564G>C (p.Gly522Arg) rs80358442
NM_000059.3(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710
NM_000059.3(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479
NM_000059.3(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712
NM_000059.3(BRCA2):c.2350A>G (p.Met784Val) rs11571653
NM_000059.3(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944
NM_000059.3(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600
NM_000059.3(BRCA2):c.3562A>G (p.Ile1188Val) rs202230438
NM_000059.3(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.3(BRCA2):c.4779A>C (p.Glu1593Asp) rs80358703
NM_000059.3(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415
NM_000059.3(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755
NM_000059.3(BRCA2):c.5552T>G (p.Ile1851Ser) rs80358776
NM_000059.3(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs) rs80359550
NM_000059.3(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.3(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205
NM_000059.3(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940
NM_000059.3(BRCA2):c.6338A>G (p.Asn2113Ser) rs80358874
NM_000059.3(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.3(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235
NM_000059.3(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.3(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624
NM_000059.3(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744
NM_000059.3(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.3(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749
NM_000059.3(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.3(BRCA2):c.865A>C (p.Asn289His) rs766173
NM_000059.3(BRCA2):c.8687G>A (p.Arg2896His) rs80359128
NM_000059.3(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047
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.8941G>A (p.Glu2981Lys) rs139052578
NM_000059.3(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000059.3(BRCA2):c.964A>C (p.Lys322Gln) rs11571640
NM_000059.3(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000077.4(CDKN2A):c.150+37G>C rs45456595
NM_000077.4(CDKN2A):c.373G>C (p.Asp125His) rs146179135
NM_000077.4(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464
NM_000077.4(CDKN2A):c.430C>T (p.Arg144Cys) rs116150891
NM_000077.4(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249
NM_000143.3(FH):c.1421C>G (p.Thr474Arg) rs369802820
NM_000143.3(FH):c.1431_1433dupAAA (p.Lys477_Asn478insLys) rs367543046
NM_000143.3(FH):c.346A>T (p.Ile116Phe) rs201532589
NM_000143.3(FH):c.883G>A (p.Ala295Thr) rs145843819
NM_000143.3(FH):c.908T>C (p.Leu303Ser) rs201502246
NM_000179.2(MSH6):c.116G>A (p.Gly39Glu) rs1042821
NM_000179.2(MSH6):c.1186C>G (p.Leu396Val) rs2020908
NM_000179.2(MSH6):c.1390A>T (p.Ile464Phe) rs201892477
NM_000179.2(MSH6):c.1526T>C (p.Val509Ala) rs63751005
NM_000179.2(MSH6):c.1618C>A (p.Leu540Ile) rs201996928
NM_000179.2(MSH6):c.1867C>G (p.Pro623Ala) rs3136334
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
NM_000179.2(MSH6):c.2667G>T (p.Gln889His) rs149945495
NM_000179.2(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875
NM_000179.2(MSH6):c.3833C>G (p.Pro1278Arg) rs201191389
NM_000179.2(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000218.2(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457
NM_000218.2(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.2(KCNQ1):c.1831G>A (p.Asp611Asn) rs147445322
NM_000218.2(KCNQ1):c.328G>A (p.Val110Ile) rs199472677
NM_000218.2(KCNQ1):c.459G>A (p.Thr153=) rs148121889
NM_000218.2(KCNQ1):c.584G>A (p.Arg195Gln) rs138362632
NM_000219.3(KCNE1):c.206A>G (p.Lys69Arg) rs149338401
NM_000219.5(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000219.5(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000219.5(KCNE1):c.29C>T (p.Thr10Met) rs144917638
NM_000222.2(KIT):c.1199A>G (p.Asn400Ser) rs72549294
NM_000222.2(KIT):c.1403C>T (p.Pro468Leu) rs200518498
NM_000222.2(KIT):c.1621A>C (p.Met541Leu) rs3822214
NM_000222.2(KIT):c.1694G>T (p.Gly565Val) rs200945282
NM_000222.2(KIT):c.2263G>A (p.Ala755Thr) rs201165084
NM_000222.2(KIT):c.776A>G (p.Tyr259Cys) rs200422460
NM_000222.2(KIT):c.821C>T (p.Thr274Met) rs138585275
NM_000222.2(KIT):c.839C>T (p.Ala280Val) rs386833402
NM_000222.2(KIT):c.910A>G (p.Thr304Ala) rs202052259
NM_000238.3(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684
NM_000238.3(KCNH2):c.2371C>T (p.Arg791Trp) rs138498207
NM_000238.3(KCNH2):c.2398+156G>A rs139247073
NM_000238.3(KCNH2):c.2398+16C>T rs201873431
NM_000238.3(KCNH2):c.2398+178C>T rs41314366
NM_000238.3(KCNH2):c.2674C>T (p.Arg892Cys) rs201627778
NM_000238.3(KCNH2):c.2690A>C (p.Lys897Thr) rs1805123
NM_000238.3(KCNH2):c.2941A>G (p.Ser981Gly) rs76649554
NM_000238.3(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375
NM_000238.3(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.3(KCNH2):c.442C>T (p.Arg148Trp) rs139544114
NM_000238.3(KCNH2):c.934C>T (p.Arg312Cys) rs199472885
NM_000245.3(MET):c.1019A>G (p.Asp340Gly) rs200690492
NM_000245.3(MET):c.110T>C (p.Val37Ala) rs201315884
NM_000245.3(MET):c.1124A>G (p.Asn375Ser) rs33917957
NM_000245.3(MET):c.1180C>A (p.His394Asn) rs201628326
NM_000245.3(MET):c.1810C>G (p.Leu604Val) rs201861645
NM_000245.3(MET):c.2383A>G (p.Asn795Asp) rs200633053
NM_000245.3(MET):c.2908C>T (p.Arg970Cys) rs34589476
NM_000245.3(MET):c.2975C>T (p.Thr992Ile) rs56391007
NM_000245.3(MET):c.3356G>C (p.Gly1119Ala) rs201037977
NM_000245.3(MET):c.4151C>G (p.Ala1384Gly) rs202166889
NM_000245.3(MET):c.504G>T (p.Glu168Asp) rs55985569
NM_000245.3(MET):c.607T>A (p.Ser203Thr) rs200861145
NM_000245.3(MET):c.948A>G (p.Ile316Met) rs35225896
NM_000245.3(MET):c.967A>G (p.Ser323Gly) rs201467281
NM_000249.3(MLH1):c.*35_*37delCTT rs193922366
NM_000249.3(MLH1):c.1151T>A (p.Val384Asp) rs63750447
NM_000249.3(MLH1):c.1166G>A (p.Arg389Gln) rs63750361
NM_000249.3(MLH1):c.1217G>A (p.Ser406Asn) rs41294980
NM_000249.3(MLH1):c.1742C>T (p.Pro581Leu) rs63751684
NM_000249.3(MLH1):c.1808C>G (p.Pro603Arg) rs63750876
NM_000249.3(MLH1):c.1852_1853delAAinsGC (p.Lys618Ala) rs35502531
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000249.3(MLH1):c.1964T>C (p.Ile655Thr) rs63751225
NM_000249.3(MLH1):c.2146G>A (p.Val716Met) rs35831931
NM_000249.3(MLH1):c.2152C>T (p.His718Tyr) rs2020873
NM_000249.3(MLH1):c.637G>A (p.Val213Met) rs2308317
NM_000249.3(MLH1):c.655A>G (p.Ile219Val) rs1799977
NM_000249.3(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000251.2(MSH2):c.1168C>T (p.Leu390Phe) rs17224367
NM_000251.2(MSH2):c.1271A>G (p.His424Arg) rs200429136
NM_000251.2(MSH2):c.1717G>A (p.Ala573Thr) rs200766962
NM_000251.2(MSH2):c.1730T>C (p.Ile577Thr) rs63749910
NM_000251.2(MSH2):c.1748A>G (p.Asn583Ser) rs201118107
NM_000251.2(MSH2):c.1787A>G (p.Asn596Ser) rs41295288
NM_000251.2(MSH2):c.1837A>C (p.Asn613His) rs200147804
NM_000251.2(MSH2):c.2425G>A (p.Glu809Lys) rs202145681
NM_000251.2(MSH2):c.4G>A (p.Ala2Thr) rs63750466
NM_000251.2(MSH2):c.815C>T (p.Ala272Val) rs34136999
NM_000251.2(MSH2):c.944G>T (p.Gly315Val) rs202026056
NM_000251.2(MSH2):c.965G>A (p.Gly322Asp) rs4987188
NM_000256.3(MYBPC3):c.1070G>A (p.Arg357His) rs199741162
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
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.2148+6_2148+9delTGAG rs397515949
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688
NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val) rs3729952
NM_000256.3(MYBPC3):c.2618C>T (p.Pro873Leu) rs371401403
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380
NM_000256.3(MYBPC3):c.2873C>T (p.Thr958Ile) rs376504548
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys) rs61729664
NM_000256.3(MYBPC3):c.3229G>A (p.Ala1077Thr) rs397516009
NM_000256.3(MYBPC3):c.3326C>T (p.Thr1109Ile) rs397516016
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050
NM_000256.3(MYBPC3):c.472G>A (p.Val158Met) rs3729986
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499
NM_000256.3(MYBPC3):c.640G>A (p.Asp214Asn) rs769167548
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly) rs138753870
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776
NM_000257.3(MYH7):c.1301G>A (p.Arg434Lys) rs786205356
NM_000257.3(MYH7):c.2536G>C (p.Glu846Gln) rs730880748
NM_000257.3(MYH7):c.2890G>C (p.Val964Leu) rs45496496
NM_000257.3(MYH7):c.28G>C (p.Gly10Arg) rs199577321
NM_000257.3(MYH7):c.732+1G>A rs730880850
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615
NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr) rs199552354
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) rs574005462
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) rs141764279
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) rs200939753
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570
NM_000264.3(PTCH1):c.2183C>T (p.Thr728Met) rs115556836
NM_000264.3(PTCH1):c.2479A>G (p.Ser827Gly) rs199476092
NM_000264.3(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275
NM_000264.3(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564
NM_000264.4(PTCH1):c.2173C>T (p.Pro725Ser) rs149258400
NM_000264.4(PTCH1):c.2485G>A (p.Val829Met) rs201125580
NM_000264.4(PTCH1):c.2678G>A (p.Arg893His) rs138154222
NM_000264.4(PTCH1):c.2834G>A (p.Arg945Gln) rs201118857
NM_000264.4(PTCH1):c.3247G>A (p.Val1083Met) rs202052415
NM_000264.4(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584
NM_000264.4(PTCH1):c.3845C>T (p.Pro1282Leu) rs2227968
NM_000264.4(PTCH1):c.3890G>A (p.Arg1297Gln) rs386833412
NM_000264.4(PTCH1):c.4027G>A (p.Gly1343Arg) rs200100952
NM_000264.4(PTCH1):c.4171C>T (p.Arg1391Trp) rs45535032
NM_000264.4(PTCH1):c.4324C>T (p.Arg1442Trp) rs143464326
NM_000264.4(PTCH1):c.4325G>A (p.Arg1442Gln) rs56023271
NM_000267.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753
NM_000267.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954
NM_000267.3(NF1):c.3998A>G (p.Glu1333Gly) rs200618072
NM_000267.3(NF1):c.4972A>G (p.Ile1658Val) rs147327414
NM_000267.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_000267.3(NF1):c.6719A>G (p.His2240Arg) rs201336602
NM_000267.3(NF1):c.6866C>T (p.Pro2289Leu) rs148736217
NM_000267.3(NF1):c.730+2T>G rs200962248
NM_000267.3(NF1):c.7331A>G (p.Asp2444Gly) rs143474365
NM_000267.3(NF1):c.7532C>T (p.Ala2511Val) rs148154172
NM_000267.3(NF1):c.8042A>T (p.Tyr2681Phe) rs201824349
NM_000267.3(NF1):c.847G>T (p.Asp283Tyr) rs200572531
NM_000268.3(NF2):c.983A>T (p.Glu328Val) rs200372028
NM_000314.7(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000321.2(RB1):c.1966C>T (p.Arg656Trp) rs142509759
NM_000321.2(RB1):c.411A>T (p.Glu137Asp) rs3092902
NM_000321.2(RB1):c.628G>T (p.Asp210Tyr) rs148992508
NM_000335.4(SCN5A):c.1336G>A (p.Glu446Lys) rs199473339
NM_000335.4(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452
NM_000335.4(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235
NM_000335.4(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344
NM_000335.4(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316
NM_000335.4(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000337.5(SGCD):c.290G>A (p.Arg97Gln) rs45559835
NM_000337.5(SGCD):c.699+18C>G rs180898690
NM_000337.5(SGCD):c.848A>G (p.Gln283Arg) rs397516338
NM_000368.4(TSC1):c.1001C>T (p.Ser334Leu) rs118203481
NM_000368.4(TSC1):c.1079C>A (p.Thr360Asn) rs118203493
NM_000368.4(TSC1):c.121C>A (p.Leu41Ile) rs118203334
NM_000368.4(TSC1):c.1460C>G (p.Ser487Cys) rs118203532
NM_000368.4(TSC1):c.1648C>G (p.Gln550Glu) rs118203553
NM_000368.4(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000368.4(TSC1):c.2066G>A (p.Arg689His) rs200827913
NM_000368.4(TSC1):c.2075G>A (p.Arg692Gln) rs199755731
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000368.4(TSC1):c.2696C>G (p.Thr899Ser) rs76801599
NM_000368.4(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742
NM_000368.4(TSC1):c.3127_3129dupAGC (p.Ser1043_Glu1044insSer) rs2234980
NM_000368.4(TSC1):c.3428C>T (p.Pro1143Leu) rs201867031
NM_000368.4(TSC1):c.851G>A (p.Arg284His) rs151309813
NM_000368.4(TSC1):c.965T>C (p.Met322Thr) rs1073123
NM_000432.3(MYL2):c.308T>G (p.Phe103Cys) rs547860537
NM_000432.3(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_000432.3(MYL2):c.426delC (p.Pro144Leufs) rs786205430
NM_000447.2(PSEN2):c.1316A>C (p.Asp439Ala) rs63750110
NM_000447.2(PSEN2):c.166G>A (p.Gly56Ser) rs188598190
NM_000447.2(PSEN2):c.185G>A (p.Arg62His) rs58973334
NM_000447.2(PSEN2):c.389C>T (p.Ser130Leu) rs63750197
NM_000535.5(PMS2):c.2264T>C (p.Ile755Thr) rs386833410
NM_000535.5(PMS2):c.695G>A (p.Gly232Glu) rs201811667
NM_000535.5(PMS2):c.733C>A (p.Leu245Met) rs201375580
NM_000535.6(PMS2):c.1408C>T (p.Pro470Ser) rs1805321
NM_000535.6(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.6(PMS2):c.1454C>A (p.Thr485Lys) rs1805323
NM_000535.6(PMS2):c.1531A>G (p.Thr511Ala) rs2228007
NM_000535.6(PMS2):c.1532C>T (p.Thr511Met) rs74902811
NM_000535.6(PMS2):c.1621A= (p.Lys541=) rs2228006
NM_000535.6(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.6(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000535.6(PMS2):c.1789A>T (p.Thr597Ser) rs1805318
NM_000535.6(PMS2):c.1866G>A (p.Met622Ile) rs1805324
NM_000535.6(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.6(PMS2):c.232_234delGAA (p.Glu78del) rs386833411
NM_000535.6(PMS2):c.2399C>T (p.Pro800Leu) rs200629542
NM_000535.6(PMS2):c.2570G>C (p.Gly857Ala) rs1802683
NM_000535.6(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.6(PMS2):c.53T>C (p.Ile18Thr) rs201343342
NM_000535.6(PMS2):c.572A>G (p.Tyr191Cys) rs375289386
NM_000535.6(PMS2):c.59G>A (p.Arg20Gln) rs10254120
NM_000535.6(PMS2):c.86G>C (p.Gly29Ala) rs146176004
NM_000535.6(PMS2):c.953A>G (p.Tyr318Cys) rs139438201
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe) rs201395630
NM_000535.7(PMS2):c.858C>A (p.Asp286Glu) rs201921616
NM_000540.2(RYR1):c.10097G>A (p.Arg3366His) rs137932199
NM_000540.2(RYR1):c.10616G>A (p.Arg3539His) rs143987857
NM_000540.2(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273
NM_000540.2(RYR1):c.11061_11063delGGA (p.Glu3689del) rs760784102
NM_000540.2(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339
NM_000540.2(RYR1):c.11958C>G (p.Asp3986Glu) rs193922842
NM_000540.2(RYR1):c.12553G>A (p.Ala4185Thr) rs151119428
NM_000540.2(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023
NM_000540.2(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.2(RYR1):c.1453A>G (p.Met485Val) rs147723844
NM_000540.2(RYR1):c.14929G>C (p.Glu4977Gln) rs200777598
NM_000540.2(RYR1):c.1840C>T (p.Arg614Cys) rs118192172
NM_000540.2(RYR1):c.2122G>A (p.Asp708Asn) rs138874610
NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390
NM_000540.2(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950
NM_000540.2(RYR1):c.5036G>A (p.Arg1679His) rs146504767
NM_000540.2(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781
NM_000540.2(RYR1):c.5317C>T (p.Pro1773Ser) rs192863857
NM_000540.2(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920
NM_000540.2(RYR1):c.6178G>T (p.Gly2060Cys) rs35364374
NM_000540.2(RYR1):c.6721C>T rs200563280
NM_000540.2(RYR1):c.6961A>G (p.Ile2321Val) rs34390345
NM_000540.2(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895
NM_000540.2(RYR1):c.8305G>A (p.Asp2769Asn) rs566495420
NM_000540.2(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463
NM_000540.2(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584
NM_000540.2(RYR1):c.89A>T (p.Glu30Val) rs145771708
NM_000540.2(RYR1):c.9242T>C (p.Met3081Thr) rs147012990
NM_000546.5(TP53):c.215C>G (p.Pro72Arg) rs1042522
NM_000546.5(TP53):c.31G>C (p.Glu11Gln) rs201382018
NM_000548.3(TSC2):c.1100G>A (p.Arg367Gln) rs1800725
NM_000548.3(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_000548.3(TSC2):c.4046C>T (p.Ala1349Val) rs201979616
NM_000548.3(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.3(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000548.4(TSC2):c.1070C>T (p.Ala357Val) rs150195368
NM_000548.4(TSC2):c.1340C>T (p.Ala447Val) rs45486591
NM_000548.4(TSC2):c.1458C>G (p.Asn486Lys) rs200532154
NM_000548.4(TSC2):c.1747G>A (p.Ala583Thr) rs1800729
NM_000548.4(TSC2):c.1819G>A (p.Ala607Thr) rs45517203
NM_000548.4(TSC2):c.1939G>A (p.Asp647Asn) rs45509392
NM_000548.4(TSC2):c.2476C>A (p.Leu826Met) rs45517238
NM_000548.4(TSC2):c.3430G>A (p.Val1144Met) rs45517294
NM_000548.4(TSC2):c.3770C>T (p.Ala1257Val) rs45466493
NM_000548.4(TSC2):c.3827C>T (p.Ser1276Phe) rs45478595
NM_000548.4(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.4(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320
NM_000548.4(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000548.4(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333
NM_000548.4(TSC2):c.5321G>C (p.Ser1774Thr) rs9209
NM_000548.4(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419
NM_000548.4(TSC2):c.5368G>A (p.Val1790Met) rs200140994
NM_000548.4(TSC2):c.5418T>G (p.Phe1806Leu) rs200004126
NM_000548.4(TSC2):c.922C>G (p.Arg308Gly) rs201144475
NM_000719.6(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613
NM_000719.6(CACNA1C):c.3946-12G>A rs41276706
NM_000719.6(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706
NM_000719.6(CACNA1C):c.5383G>A (p.Gly1795Arg) rs111298509
NM_000719.6(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105
NM_000719.6(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586
NM_000719.6(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325
NM_000719.6(CACNA1C):c.6344G>C (p.Gly2115Ala) rs199694744
NM_000719.6(CACNA1C):c.6388G>A (p.Asp2130Asn) rs199473392
NM_000719.6(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421
NM_000724.3(CACNB2):c.1346C>T (p.Thr449Ile) rs143326262
NM_000724.3(CACNB2):c.1611C>A (p.Asp537Glu) rs144182966
NM_000724.3(CACNB2):c.425C>T (p.Ser142Phe) rs150528041
NM_000724.3(CACNB2):c.476G>C (p.Ser159Thr) rs149253719
NM_001001430.2(TNNT2):c.745G>A (p.Asp249Asn) rs141805127
NM_001001430.2(TNNT2):c.758A>G (p.Lys253Arg) rs3730238
NM_001035.2(RYR2):c.10381A>G (p.Met3461Val) rs147512481
NM_001035.2(RYR2):c.10699C>T (p.Arg3567Cys) rs559154874
NM_001035.2(RYR2):c.12842C>T (p.Thr4281Met) rs201829896
NM_001035.2(RYR2):c.12919C>T (p.Arg4307Cys) rs200092869
NM_001035.2(RYR2):c.1519G>A (p.Val507Ile) rs16835270
NM_001035.2(RYR2):c.2711A>G (p.Tyr904Cys) rs201131315
NM_001035.2(RYR2):c.3251G>A (p.Arg1084Lys) rs193922624
NM_001035.2(RYR2):c.3320C>T (p.Thr1107Met) rs200236750
NM_001035.2(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962
NM_001035.2(RYR2):c.3407C>T (p.Ala1136Val) rs72549415
NM_001035.2(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512
NM_001035.2(RYR2):c.4445G>A (p.Arg1482His) rs373024059
NM_001035.2(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858
NM_001035.2(RYR2):c.5656G>A (p.Gly1886Ser) rs3766871
NM_001035.2(RYR2):c.6337G>A (p.Val2113Met) rs186906598
NM_001035.2(RYR2):c.649A>G (p.Ile217Val) rs200642525
NM_001035.2(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897
NM_001035.2(RYR2):c.8873A>G (p.Gln2958Arg) rs34967813
NM_001037.4(SCN1B):c.412G>A (p.Val138Ile) rs72558029
NM_001037.4(SCN1B):c.448+112G>A rs72558026
NM_001037.4(SCN1B):c.448+193G>A rs66876876
NM_001080114.1(LDB3):c.1130G>A (p.Arg377His) rs146265188
NM_001080114.1(LDB3):c.1205A>C (p.Gln402Pro) rs138951890
NM_001080114.1(LDB3):c.1342A>G (p.Ile448Val) rs372331627
NM_001080114.1(LDB3):c.781G>A (p.Ala261Thr) rs45539535
NM_001080116.1(LDB3):c.163G>A (p.Val55Ile) rs3740343
NM_001080116.1(LDB3):c.302C>T (p.Pro101Leu) rs45592139
NM_001080116.1(LDB3):c.321+1523C>T rs45487699
NM_001080116.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338
NM_001080116.1(LDB3):c.611A>G (p.Lys204Arg) rs34423165
NM_001083603.1(PTCH1):c.163G>C (p.Asp55His) rs73527759
NM_001103.3(ACTN2):c.1040C>T (p.Thr347Met) rs727504590
NM_001103.3(ACTN2):c.1235C>T (p.Thr412Met) rs139515659
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.1484C>T (p.Thr495Met) rs200248944
NM_001103.3(ACTN2):c.1810A>G (p.Met604Val) rs35997569
NM_001103.3(ACTN2):c.2161C>A (p.Arg721Ser) rs149433837
NM_001103.3(ACTN2):c.2659G>A (p.Ala887Thr) rs148972050
NM_001103.3(ACTN2):c.26A>G (p.Gln9Arg) rs121434525
NM_001128425.1(MUTYH):c.1014G>C (p.Gln338His) rs3219489
NM_001128425.1(MUTYH):c.1118C>T (p.Ala373Val) rs35352891
NM_001128425.1(MUTYH):c.1187G>A (p.Gly396Asp) rs36053993
NM_001128425.1(MUTYH):c.1258C>A (p.Leu420Met) rs144079536
NM_001128425.1(MUTYH):c.1276C>T (p.Arg426Cys) rs150792276
NM_001128425.1(MUTYH):c.1420C>T (p.Arg474Cys) rs200229669
NM_001128425.1(MUTYH):c.1544C>T (p.Ser515Phe) rs140118273
NM_001128425.1(MUTYH):c.1585C>A (p.Leu529Met) rs3219496
NM_001128425.1(MUTYH):c.1601G>A (p.Arg534Gln) rs3219497
NM_001128425.1(MUTYH):c.251A>G (p.Tyr84Cys) rs200747973
NM_001128425.1(MUTYH):c.53C>T (p.Pro18Leu) rs79777494
NM_001128425.1(MUTYH):c.64G>A (p.Val22Met) rs3219484
NM_001128425.1(MUTYH):c.733C>T (p.Arg245Cys) rs200495564
NM_001128425.1(MUTYH):c.74G>A (p.Gly25Asp) rs75321043
NM_001128425.1(MUTYH):c.821G>A (p.Arg274Gln) rs149866955
NM_001128425.1(MUTYH):c.925C>T (p.Arg309Cys) rs138089183
NM_001128425.1(MUTYH):c.934-2A>G rs77542170
NM_001148.4(ANK2):c.10861C>G (p.Leu3621Val) rs45570339
NM_001148.4(ANK2):c.10901T>A (p.Val3634Asp) rs66785829
NM_001148.4(ANK2):c.11119G>A (p.Asp3707Asn) rs199549660
NM_001148.4(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544
NM_001148.4(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705
NM_001148.4(ANK2):c.11594A>G (p.Asp3865Gly) rs140606121
NM_001148.4(ANK2):c.11716C>T (p.Arg3906Trp) rs121912706
NM_001148.4(ANK2):c.1177G>A (p.Ala393Thr) rs147458476
NM_001148.4(ANK2):c.11791G>A (p.Glu3931Lys) rs45454496
NM_001148.4(ANK2):c.2060A>G (p.Asn687Ser) rs29372
NM_001148.4(ANK2):c.2474C>T (p.Thr825Ile) rs786205420
NM_001148.4(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141
NM_001148.4(ANK2):c.4744C>T (p.Arg1582Trp) rs35249198
NM_001148.4(ANK2):c.4745G>A (p.Arg1582Gln) rs138842207
NM_001148.4(ANK2):c.6176C>T (p.Thr2059Met) rs200765866
NM_001148.4(ANK2):c.6228G>T (p.Lys2076Asn) rs144848998
NM_001148.4(ANK2):c.6854T>C (p.Ile2285Thr) rs150684838
NM_001148.4(ANK2):c.7106T>C (p.Val2369Ala) rs28377576
NM_001148.4(ANK2):c.7132G>A (p.Glu2378Lys) rs141191319
NM_001148.4(ANK2):c.7436A>G (p.Lys2479Arg) rs201619005
NM_001148.4(ANK2):c.8354C>T (p.Ser2785Leu) rs145895389
NM_001148.4(ANK2):c.8381A>G (p.Gln2794Arg) rs528909081
NM_001148.4(ANK2):c.8503C>T (p.Pro2835Ser) rs3733617
NM_001148.4(ANK2):c.9061G>A (p.Ala3021Thr) rs74348333
NM_001148.4(ANK2):c.9454A>G (p.Thr3152Ala) rs61741040
NM_001148.4(ANK2):c.962G>A (p.Arg321Gln) rs150226540
NM_001148.4(ANK2):c.9854T>C (p.Ile3285Thr) rs36210417
NM_001148.4(ANK2):c.9900C>A (p.Ser3300Arg) rs34270799
NM_001232.3(CASQ2):c.1185_1187delCGA (p.Asp398del) rs397516641
NM_001232.3(CASQ2):c.226G>A (p.Val76Met) rs10801999
NM_001232.3(CASQ2):c.567C>G (p.Phe189Leu) rs146664754
NM_001232.3(CASQ2):c.731A>G (p.His244Arg) rs28730716
NM_001256850.1(TTN):c.10768C>G (p.Leu3590Val) rs55853696
NM_001256850.1(TTN):c.32562_32564delAGA (p.Glu10855del) rs368327166
NM_001256850.1(TTN):c.835C>T (p.Arg279Trp) rs138060032
NM_001267550.1(TTN):c.33513_33515dup (p.Glu11172_Tyr11173insGlu) rs368327166
NM_001267550.1(TTN):c.45599C>G rs201057307
NM_001267550.2(TTN):c.10163G>A (p.Arg3388Gln) rs187703540
NM_001267550.2(TTN):c.11311+5216G>A rs150615457
NM_001927.3(DES):c.1375G>A (p.Val459Ile) rs73991549
NM_001927.3(DES):c.638C>T (p.Ala213Val) rs41272699
NM_001927.3(DES):c.893C>T (p.Ser298Leu) rs62636491
NM_001943.3(DSG2):c.1592T>G (p.Phe531Cys) rs200484060
NM_001943.3(DSG2):c.437G>T (p.Arg146Leu) rs113451409
NM_001943.4(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_001943.4(DSG2):c.1063G>A (p.Ala355Thr) rs201046640
NM_001943.4(DSG2):c.1174G>A (p.Val392Ile) rs193922639
NM_001943.4(DSG2):c.1303G>A (p.Asp435Asn) rs370509593
NM_001943.4(DSG2):c.1543G>A (p.Val515Ile) rs2230235
NM_001943.4(DSG2):c.1550C>T (p.Ala517Val) rs200509948
NM_001943.4(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_001943.4(DSG2):c.1781T>C (p.Leu594Pro) rs199681901
NM_001943.4(DSG2):c.2137G>A (p.Glu713Lys) rs79241126
NM_001943.4(DSG2):c.2318G>A (p.Arg773Lys) rs2278792
NM_001943.4(DSG2):c.2587A>C (p.Met863Leu) rs16962093
NM_001943.4(DSG2):c.2759T>G (p.Val920Gly) rs142841727
NM_001943.4(DSG2):c.3175T>A (p.Ser1059Thr) rs201786158
NM_001943.4(DSG2):c.3209C>T (p.Thr1070Met) rs149617776
NM_001943.4(DSG2):c.473T>G (p.Val158Gly) rs191143292
NM_001943.4(DSG2):c.877A>G (p.Ile293Val) rs2230234
NM_002230.2(JUP):c.1172G>A (p.Ser391Asn) rs199826380
NM_002230.2(JUP):c.2089A>T (p.Met697Leu) rs1126821
NM_002234.3(KCNA5):c.1150G>A (p.Gly384Arg) rs76708779
NM_002234.3(KCNA5):c.464A>G (p.Tyr155Cys) rs202117321
NM_002234.3(KCNA5):c.633G>C (p.Glu211Asp) rs35853292
NM_002234.3(KCNA5):c.634C>T (p.Arg212Cys) rs77281462
NM_002234.3(KCNA5):c.751G>A (p.Ala251Thr) rs12720442
NM_002234.3(KCNA5):c.898G>A (p.Gly300Ser) rs148708451
NM_002234.3(KCNA5):c.913G>A (p.Ala305Thr) rs199794307
NM_002234.3(KCNA5):c.919C>T (p.Pro307Ser) rs17215409
NM_002290.4(LAMA4):c.1256T>C (p.Met419Thr) rs200112094
NM_002290.4(LAMA4):c.1454T>A (p.Leu485His) rs3752579
NM_002290.4(LAMA4):c.2150G>A (p.Arg717Lys) rs146868519
NM_002290.4(LAMA4):c.2377C>T (p.Arg793Cys) rs202184174
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.3922G>A (p.Val1308Ile) rs70940811
NM_002290.4(LAMA4):c.641G>A (p.Arg214His) rs139146419
NM_002290.4(LAMA4):c.668G>A (p.Arg223His) rs200017155
NM_002471.3(MYH6):c.1131C>G (p.Asp377Glu) rs61742472
NM_002471.3(MYH6):c.1252G>A (p.Val418Met) rs147606900
NM_002471.3(MYH6):c.166G>A (p.Gly56Arg) rs28711516
NM_002471.3(MYH6):c.1763A>C (p.Asp588Ala) rs142992009
NM_002471.3(MYH6):c.2579G>A (p.Arg860His) rs115845031
NM_002471.3(MYH6):c.2591C>T (p.Thr864Met) rs200153625
NM_002471.3(MYH6):c.2890G>T (p.Ala964Ser) rs144907522
NM_002471.3(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652
NM_002471.3(MYH6):c.3195G>C (p.Gln1065His) rs267606904
NM_002471.3(MYH6):c.3199A>G (p.Ser1067Gly) rs145508517
NM_002471.3(MYH6):c.3302T>C (p.Val1101Ala) rs365990
NM_002471.3(MYH6):c.3388G>A (p.Ala1130Thr) rs28730771
NM_002471.3(MYH6):c.3883G>C (p.Glu1295Gln) rs34935550
NM_002471.3(MYH6):c.4505G>A (p.Arg1502Gln) rs199936506
NM_002471.3(MYH6):c.4778A>T (p.Gln1593Leu) rs45574136
NM_002471.3(MYH6):c.4838T>C (p.Val1613Ala) rs61742476
NM_002471.3(MYH6):c.622G>A (p.Asp208Asn) rs142027794
NM_002471.3(MYH6):c.824T>A (p.Ile275Asn) rs201327273
NM_002471.3(MYH6):c.831G>T (p.Gln277His) rs140660481
NM_002471.3(MYH6):c.86G>A (p.Arg29Gln) rs150574114
NM_002667.4(PLN):c.116T>G (p.Leu39Ter) rs111033560
NM_003000.2(SDHB):c.403G>A (p.Val135Met) rs201585157
NM_003000.2(SDHB):c.487T>C (p.Ser163Pro) rs33927012
NM_003000.2(SDHB):c.638T>C (p.Met213Thr) rs202014362
NM_003000.2(SDHB):c.8C>G (p.Ala3Gly) rs11203289
NM_003001.3(SDHC):c.*78G>A rs182629842
NM_003001.3(SDHC):c.*84G>C rs201210474
NM_003002.3(SDHD):c.149A>G (p.His50Arg) rs11214077
NM_003002.3(SDHD):c.34G>A (p.Gly12Ser) rs34677591
NM_003002.3(SDHD):c.400T>G (p.Leu134Val) rs200851392
NM_003098.2(SNTA1):c.1498C>T (p.Arg500Cys) rs786205426
NM_003098.2(SNTA1):c.317G>A (p.Arg106Gln) rs75025585
NM_003098.2(SNTA1):c.770C>G (p.Ala257Gly) rs56157422
NM_003098.2(SNTA1):c.784A>C (p.Thr262Pro) rs200316080
NM_003239.4(TGFB3):c.293C>T (p.Ser98Leu) rs142047577
NM_003276.2(TMPO):c.1246A>G (p.Lys416Glu) rs11838270
NM_003276.2(TMPO):c.1277C>T (p.Pro426Leu) rs141443652
NM_003276.2(TMPO):c.1434G>C (p.Lys478Asn) rs35761089
NM_003276.2(TMPO):c.1471T>G (p.Ser491Ala) rs80325832
NM_003276.2(TMPO):c.1795C>G (p.Gln599Glu) rs17459334
NM_003276.2(TMPO):c.2068C>T (p.Arg690Cys) rs17028450
NM_003276.2(TMPO):c.686C>T (p.Thr229Ile) rs138790561
NM_003276.2(TMPO):c.713T>G (p.Leu238Arg) rs35998138
NM_003276.2(TMPO):c.821G>A (p.Arg274Lys) rs139700737
NM_003276.2(TMPO):c.877T>G (p.Ser293Ala) rs35645287
NM_003276.2(TMPO):c.925G>C (p.Ala309Pro) rs114939776
NM_003276.2(TMPO):c.950C>G (p.Thr317Ser) rs35969221
NM_003476.4(CSRP3):c.10T>C (p.Trp4Arg) rs45550635
NM_003476.4(CSRP3):c.299G>A (p.Arg100His) rs138218523
NM_003673.3(TCAP):c.208C>T (p.Arg70Trp) rs775636212
NM_003673.3(TCAP):c.313G>C (p.Glu105Gln) rs146906267
NM_003673.3(TCAP):c.316C>T (p.Arg106Cys) rs45578741
NM_003673.3(TCAP):c.37_39delGAG (p.Glu13del) rs397516862
NM_004100.4(EYA4):c.1035G>C (p.Arg345Ser) rs140170914
NM_004100.4(EYA4):c.1418G>T (p.Gly473Val) rs146977269
NM_004100.4(EYA4):c.1739-64G>A rs143208937
NM_004100.4(EYA4):c.829G>A (p.Gly277Ser) rs9493627
NM_004100.4(EYA4):c.866C>T (p.Thr289Met) rs41286200
NM_004100.4(EYA4):c.979G>A (p.Asp327Asn) rs144415484
NM_004281.3(BAG3):c.1436C>T (p.Ala479Val) rs34656239
NM_004281.3(BAG3):c.212G>A (p.Arg71Gln) rs35434411
NM_004281.3(BAG3):c.249C>A (p.His83Gln) rs151331972
NM_004281.3(BAG3):c.280A>T (p.Ile94Phe) rs145393807
NM_004281.3(BAG3):c.463G>A (p.Ala155Thr) rs61756328
NM_004281.3(BAG3):c.652C>T (p.Arg218Trp) rs397514506
NM_004281.3(BAG3):c.653G>A (p.Arg218Gln) rs201638005
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp) rs117671123
NM_004281.3(BAG3):c.821C>T (p.Ser274Leu) rs143919208
NM_004329.2(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056
NM_004329.2(BMPR1A):c.1433G>A (p.Arg478His) rs113849804
NM_004329.2(BMPR1A):c.1596C>G (p.Ile532Met) rs201345248
NM_004329.2(BMPR1A):c.4C>A (p.Pro2Thr) rs11528010
NM_004360.4(CDH1):c.1789C>T (p.Pro597Ser) rs201625049
NM_004360.4(CDH1):c.671G>A (p.Arg224His) rs201511530
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154
NM_004360.5(CDH1):c.2077G>A (p.Gly693Ser) rs386833398
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr) rs142822590
NM_004415.2(DSP):c.1481A>T (p.Tyr494Phe) rs28763961
NM_004415.2(DSP):c.1778A>G (p.Asn593Ser) rs34239595
NM_004415.2(DSP):c.2422C>T (p.Arg808Cys) rs150339369
NM_004415.2(DSP):c.2723G>A (p.Arg908His) rs142494121
NM_004415.2(DSP):c.2815G>A (p.Gly939Ser) rs80325569
NM_004415.2(DSP):c.3297G>C (p.Lys1099Asn) rs370550974
NM_004415.2(DSP):c.4372C>G (p.Arg1458Gly) rs28763965
NM_004415.2(DSP):c.4588G>T (p.Val1530Phe) rs141227126
NM_004415.2(DSP):c.4609C>T (p.Arg1537Cys) rs28763967
NM_004415.2(DSP):c.4741A>G (p.Lys1581Glu) rs186842903
NM_004415.2(DSP):c.5178C>A (p.Asn1726Lys) rs147415451
NM_004415.2(DSP):c.5498A>T (p.Glu1833Val) rs78652302
NM_004415.2(DSP):c.688G>A (p.Asp230Asn) rs147315869
NM_004415.2(DSP):c.7916G>A (p.Arg2639Gln) rs116888866
NM_004415.2(DSP):c.8191T>C (p.Tyr2731His) rs201397978
NM_004415.2(DSP):c.8300C>A (p.Thr2767Asn) rs34884895
NM_004415.2(DSP):c.8455A>C (p.Met2819Leu) rs138329459
NM_004415.2(DSP):c.8605A>G (p.Ile2869Val) rs28763971
NM_004415.2(DSP):c.88G>A (p.Val30Met) rs121912998
NM_004415.2(DSP):c.913A>T (p.Ile305Phe) rs17604693
NM_004415.3(DSP):c.3646A>G (p.Ile1216Val) rs199795359
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.6208G>A (p.Asp2070Asn) rs41302885
NM_004415.3(DSP):c.6881C>G (p.Ala2294Gly) rs147000526
NM_004415.3(DSP):c.782C>T (p.Ala261Val) rs139509870
NM_004572.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304
NM_004572.3(PKP2):c.1093A>G (p.Met365Val) rs143900944
NM_004572.3(PKP2):c.1097T>C (p.Leu366Pro) rs1046116
NM_004572.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_004572.3(PKP2):c.1372A>G (p.Ile458Val) rs199571473
NM_004572.3(PKP2):c.1421C>T (p.Ala474Val) rs373399921
NM_004572.3(PKP2):c.1468C>T (p.Arg490Trp) rs149930872
NM_004572.3(PKP2):c.1550A>G (p.Asn517Ser) rs144536197
NM_004572.3(PKP2):c.1577C>T (p.Thr526Met) rs146882581
NM_004572.3(PKP2):c.1592T>G (p.Ile531Ser) rs147240502
NM_004572.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884
NM_004572.3(PKP2):c.1759G>A (p.Val587Ile) rs146102241
NM_004572.3(PKP2):c.2087A>G (p.Asn696Ser) rs140852019
NM_004572.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145
NM_004572.3(PKP2):c.2392A>G (p.Thr798Ala) rs112592855
NM_004572.3(PKP2):c.2431C>A (p.Arg811Ser) rs139734328
NM_004572.3(PKP2):c.2485G>A (p.Asp829Asn) rs151264959
NM_004572.3(PKP2):c.302G>A (p.Arg101His) rs149542398
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.706G>T (p.Ala236Ser) rs62001015
NM_004572.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_004572.3(PKP2):c.791C>T (p.Ala264Val) rs62001016
NM_004572.3(PKP2):c.826C>T (p.Pro276Ser) rs201944276
NM_004949.4(DSC2):c.1073C>T (p.Thr358Ile) rs139399951
NM_004949.4(DSC2):c.2194T>G (p.Leu732Val) rs151024019
NM_005359.5(SMAD4):c.1573A>G (p.Ile525Val) rs149755320
NM_005359.5(SMAD4):c.565C>T (p.Arg189Cys) rs140743238
NM_005379.3(MYO1A):c.1882C>G (p.Arg628Gly) rs151187460
NM_005379.3(MYO1A):c.277C>T (p.Arg93Ter) rs121909305
NM_005472.4(KCNE3):c.248G>A (p.Arg83His) rs17215437
NM_005472.4(KCNE3):c.296G>A (p.Arg99His) rs121908441
NM_005477.2(HCN4):c.1209_1209+1insGTGA rs786205418
NM_005477.2(HCN4):c.1459G>A (p.Val487Met) rs202037304
NM_005477.2(HCN4):c.2275G>A (p.Val759Ile) rs62641689
NM_005477.2(HCN4):c.2522C>T (p.Ser841Leu) rs200546024
NM_005477.2(HCN4):c.3577G>C (p.Glu1193Gln) rs200507617
NM_005572.3(LMNA):c.1017G>A (p.Ala339=) rs17847242
NM_005572.3(LMNA):c.1201C>T (p.Arg401Cys) rs61094188
NM_005572.3(LMNA):c.1338T>C (p.Asp446=) rs505058
NM_005572.3(LMNA):c.861T>C (p.Ala287=) rs538089
NM_005691.3(ABCC9):c.1887G>T (p.Glu629Asp) rs150036969
NM_005691.3(ABCC9):c.2200G>A (p.Val734Ile) rs61688134
NM_005691.3(ABCC9):c.2238-1G>A rs141281214
NM_005691.3(ABCC9):c.287G>A (p.Arg96Gln) rs202103893
NM_005751.4(AKAP9):c.10118C>A (p.Ser3373Tyr) rs140470576
NM_005751.4(AKAP9):c.10331A>G (p.Gln3444Arg) rs34956633
NM_005751.4(AKAP9):c.10459G>A (p.Glu3487Lys) rs61757664
NM_005751.4(AKAP9):c.10664A>T (p.Asp3555Val) rs139046510
NM_005751.4(AKAP9):c.10672A>G (p.Ile3558Val) rs144054367
NM_005751.4(AKAP9):c.10840A>G (p.Met3614Val) rs34327395
NM_005751.4(AKAP9):c.10858A>G (p.Ile3620Val) rs142729919
NM_005751.4(AKAP9):c.1099G>A (p.Val367Met) rs138161478
NM_005751.4(AKAP9):c.11135G>A (p.Arg3712Gln) rs186148498
NM_005751.4(AKAP9):c.11225G>C (p.Arg3742Pro) rs34101758
NM_005751.4(AKAP9):c.11229G>A (p.Met3743Ile) rs143306820
NM_005751.4(AKAP9):c.11230G>T (p.Gly3744Trp) rs200327385
NM_005751.4(AKAP9):c.11273G>A (p.Arg3758His) rs141856443
NM_005751.4(AKAP9):c.11714T>C (p.Met3905Thr) rs77447750
NM_005751.4(AKAP9):c.1301G>A (p.Arg434Gln) rs60031334
NM_005751.4(AKAP9):c.1389G>T (p.Met463Ile) rs6964587
NM_005751.4(AKAP9):c.139C>T (p.His47Tyr) rs35669569
NM_005751.4(AKAP9):c.2425A>G (p.Ile809Val) rs144615758
NM_005751.4(AKAP9):c.2581T>C (p.Tyr861His) rs61757557
NM_005751.4(AKAP9):c.3580G>A (p.Ala1194Thr) rs139965373
NM_005751.4(AKAP9):c.3827G>A (p.Arg1276Gln) rs146797353
NM_005751.4(AKAP9):c.4004_4006dupAAC (p.Lys1335_Leu1336insGln) rs10644111
NM_005751.4(AKAP9):c.4190A>G (p.Gln1397Arg) rs139612565
NM_005751.4(AKAP9):c.4199T>C (p.Met1400Thr) rs73407505
NM_005751.4(AKAP9):c.4342A>G (p.Ile1448Val) rs150379637
NM_005751.4(AKAP9):c.4841G>A (p.Arg1614Gln) rs2230768
NM_005751.4(AKAP9):c.510G>C (p.Glu170Asp) rs144888041
NM_005751.4(AKAP9):c.5246T>C (p.Ile1749Thr) rs150016098
NM_005751.4(AKAP9):c.5369T>G (p.Val1790Gly) rs151021935
NM_005751.4(AKAP9):c.6037G>A (p.Glu2013Lys) rs61757671
NM_005751.4(AKAP9):c.610G>A (p.Asp204Asn) rs148920964
NM_005751.4(AKAP9):c.6176A>G (p.Glu2059Gly) rs73226383
NM_005751.4(AKAP9):c.6556T>C (p.Ser2186Pro) rs76177450
NM_005751.4(AKAP9):c.7451A>G (p.Lys2484Arg) rs35759833
NM_005751.4(AKAP9):c.7488T>G (p.Asn2496Lys) rs201977551
NM_005751.4(AKAP9):c.7773A>C (p.Gln2591His) rs553800160
NM_005751.4(AKAP9):c.80C>T (p.Ser27Leu) rs142401936
NM_005751.4(AKAP9):c.8286A>C (p.Lys2762Asn) rs144875383
NM_005751.4(AKAP9):c.8375A>G (p.Asn2792Ser) rs6960867
NM_005751.4(AKAP9):c.8935C>T (p.Pro2979Ser) rs1063242
NM_005751.4(AKAP9):c.971T>C (p.Ile324Thr) rs367857951
NM_005751.4(AKAP9):c.9763A>G (p.Arg3255Gly) rs201048693
NM_005751.4(AKAP9):c.9929G>A (p.Arg3310Gln) rs78351282
NM_006206.5(PDGFRA):c.1019G>A (p.Arg340Gln) rs77524207
NM_006206.5(PDGFRA):c.1099G>A (p.Val367Met) rs147982027
NM_006206.5(PDGFRA):c.1285G>A (p.Gly429Arg) rs150577828
NM_006206.5(PDGFRA):c.1325T>C (p.Leu442Pro) rs139236922
NM_006206.5(PDGFRA):c.1432T>C (p.Ser478Pro) rs35597368
NM_006206.5(PDGFRA):c.2291G>A (p.Arg764His) rs141047712
NM_006206.5(PDGFRA):c.236G>A (p.Gly79Asp) rs36035373
NM_006206.5(PDGFRA):c.2897A>G (p.His966Arg) rs200042995
NM_006206.5(PDGFRA):c.3004G>T (p.Asp1002Tyr) rs200676118
NM_006206.5(PDGFRA):c.599C>G (p.Thr200Ser) rs149951350
NM_006206.5(PDGFRA):c.661C>T (p.Leu221Phe) rs139913632
NM_006206.5(PDGFRA):c.896T>C (p.Val299Ala) rs200033396
NM_007078.2(LDB3):c.352G>A (p.Val118Met) rs35507268
NM_007294.3(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950
NM_007294.3(BRCA1):c.1233T>G (p.Asp411Glu) rs80357024
NM_007294.3(BRCA1):c.1487G>A (p.Arg496His) rs28897677
NM_007294.3(BRCA1):c.1789G>A (p.Glu597Lys) rs55650082
NM_007294.3(BRCA1):c.1849A>G (p.Thr617Ala) rs45564238
NM_007294.3(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850
NM_007294.3(BRCA1):c.2315T>C (p.Val772Ala) rs80357467
NM_007294.3(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113
NM_007294.3(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.3(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300
NM_007294.3(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.3(BRCA1):c.2783G>A (p.Gly928Asp) rs202004680
NM_007294.3(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704
NM_007294.3(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941
NM_007294.3(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852
NM_007294.3(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201
NM_007294.3(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945
NM_007294.3(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942
NM_007294.3(BRCA1):c.3713C>T (p.Pro1238Leu) rs28897688
NM_007294.3(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.3(BRCA1):c.4096+30C>T rs369055904
NM_007294.3(BRCA1):c.425C>A (p.Pro142His) rs55971303
NM_007294.3(BRCA1):c.4414C>T (p.Leu1472Phe) rs200582930
NM_007294.3(BRCA1):c.4520G>C (p.Arg1507Thr) rs80357470
NM_007294.3(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744
NM_007294.3(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.3(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854
NM_007294.3(BRCA1):c.4903G>A (p.Glu1635Lys) rs200432771
NM_007294.3(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967
NM_007294.3(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087
NM_007294.3(BRCA1):c.5113C>G (p.Leu1705Val) rs80356858
NM_007294.3(BRCA1):c.547+2T>A rs80358047
NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs) rs386833395
NM_007294.3(BRCA1):c.736T>G (p.Leu246Val) rs28897675
NM_014000.2(VCL):c.1157A>G (p.Lys386Arg) rs200342284
NM_014000.2(VCL):c.1237G>A (p.Ala413Thr) rs146278697
NM_014000.2(VCL):c.1555A>C (p.Ile519Leu) rs141033098
NM_014000.2(VCL):c.1607C>A (p.Pro536His) rs200624351
NM_014000.2(VCL):c.1907A>G (p.His636Arg) rs71579374
NM_014000.2(VCL):c.2521G>C (p.Asp841His) rs150385900
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.2862_2864delGTT (p.Leu955del) rs397517237
NM_014000.2(VCL):c.404T>C (p.Ile135Thr) rs373744314
NM_014000.2(VCL):c.590C>T (p.Thr197Ile) rs189242810
NM_014391.2(ANKRD1):c.197G>A (p.Arg66Gln) rs150797476
NM_014391.2(ANKRD1):c.313C>T (p.Pro105Ser) rs148189486
NM_014391.2(ANKRD1):c.319G>T (p.Val107Leu) rs114435632
NM_014391.2(ANKRD1):c.827C>T (p.Ala276Val) rs35550482
NM_015141.3(GPD1L):c.370A>G (p.Ile124Val) rs72552293
NM_015141.3(GPD1L):c.520G>A (p.Glu174Lys) rs112122950
NM_016599.4(MYOZ2):c.29A>C (p.Gln10Pro) rs76757102
NM_017841.2(SDHAF2):c.52A>G (p.Arg18Gly) rs200911550
NM_017841.2(SDHAF2):c.97C>T (p.Arg33Cys) rs144867876
NM_018400.3(SCN3B):c.29T>C (p.Leu10Pro) rs121918282
NM_018400.3(SCN3B):c.328G>A (p.Val110Ile) rs147205617
NM_020630.4(RET):c.200G>A (p.Arg67His) rs192489011
NM_020630.4(RET):c.2288A>T (p.Asn763Ile) rs199882293
NM_020630.4(RET):c.2543T>A (p.Met848Lys) rs201101792
NM_020630.4(RET):c.2982A>C (p.Lys994Asn) rs199718928
NM_020630.4(RET):c.509C>T (p.Thr170Ile) rs200547906
NM_020630.5(RET):c.1942G>A (p.Val648Ile) rs77711105
NM_020630.5(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020630.5(RET):c.2611G>A (p.Val871Ile) rs145170911
NM_020630.5(RET):c.874G>A (p.Val292Met) rs34682185
NM_020975.4(RET):c.166C>A (p.Leu56Met) rs145633958
NM_020975.4(RET):c.2071G>A (p.Gly691Ser) rs1799939
NM_020975.4(RET):c.2944C>T (p.Arg982Cys) rs17158558
NM_020975.4(RET):c.785T>C (p.Val262Ala) rs139790943
NM_020975.4(RET):c.833C>A (p.Thr278Asn) rs35118262
NM_021991.3(JUP):c.1942G>A (p.Val648Ile) rs143043662
NM_021991.3(JUP):c.425G>A (p.Arg142His) rs41283425
NM_024334.2(TMEM43):c.1111T>C (p.Tyr371His) rs116911972
NM_024334.2(TMEM43):c.164G>A (p.Gly55Asp) rs201453637
NM_024334.2(TMEM43):c.169G>A (p.Ala57Thr) rs151010429
NM_024334.2(TMEM43):c.424G>A (p.Glu142Lys) rs145619906
NM_024334.2(TMEM43):c.504A>T (p.Lys168Asn) rs4685076
NM_024334.2(TMEM43):c.536T>C (p.Met179Thr) rs2340917
NM_024334.2(TMEM43):c.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.2326A>G (p.Ile776Val) rs1893963
NM_024422.3(DSC2):c.2368_2370delGGA (p.Gly790del) rs377272752
NM_024422.3(DSC2):c.2687_2688insGA (p.Ala897Lysfs) rs200056085
NM_024422.4(DSC2):c.1070G>A (p.Arg357His) rs201201194
NM_024422.4(DSC2):c.1787C>T (p.Ala596Val) rs148185335
NM_024422.4(DSC2):c.1914G>C (p.Gln638His) rs147742157
NM_024422.4(DSC2):c.2393G>A (p.Arg798Gln) rs61731921
NM_024422.4(DSC2):c.835C>T (p.Arg279Cys) rs193922708
NM_024426.5(WT1):c.1063T>C (p.Cys355Arg) rs142059681
NM_024529.4(CDC73):c.1304T>C (p.Met435Thr) rs202209013
NM_032578.3(MYPN):c.1130G>A (p.Arg377Gln) rs147596628
NM_032578.3(MYPN):c.1790G>A (p.Arg597His) rs150911078
NM_032578.3(MYPN):c.2260A>C (p.Ile754Leu) rs201245117
NM_032578.3(MYPN):c.2863C>T (p.Arg955Trp) rs149887823
NM_032578.3(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278
NM_032578.3(MYPN):c.3846T>A (p.Ser1282Arg) rs147659164
NM_032578.3(MYPN):c.392G>T (p.Ser131Ile) rs199853307
NM_032578.3(MYPN):c.59A>G (p.Tyr20Cys) rs140148105
NM_032578.3(MYPN):c.952G>A (p.Val318Ile) rs112518450
NM_032975.3(DTNA):c.1787G>A (p.Arg596Gln) rs138143719
NM_032975.3(DTNA):c.1856G>A (p.Arg619Gln) rs142009291
NM_032978.6(DTNA):c.1000G>A (p.Val334Met) rs148123045
NM_032978.6(DTNA):c.1207C>T (p.His403Tyr) rs139872140
NM_032978.6(DTNA):c.1390G>A (p.Asp464Asn) rs144880521
NM_032978.6(DTNA):c.955A>G (p.Met319Val) rs141981161
NM_033118.3(MYLK2):c.173C>A (p.Ala58Asp) rs138130914
NM_033118.3(MYLK2):c.430C>G (p.Pro144Ala) rs34396614
NM_033118.3(MYLK2):c.4G>A (p.Ala2Thr) rs117502839
NM_033337.2(CAV3):c.166G>A (p.Gly56Ser) rs72546667
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776
NM_033337.2(CAV3):c.233C>T (p.Thr78Met) rs72546668
NM_130799.2(MEN1):c.1621G>A (p.Ala541Thr) rs2959656
NM_130799.2(MEN1):c.512G>A (p.Arg171Gln) rs607969
NM_130799.2(MEN1):c.774G>C (p.Gln258His) rs374659656
NM_133378.4(TTN):c.10088G>A (p.Arg3363His) rs148169214
NM_133378.4(TTN):c.10256G>A (p.Ser3419Asn) rs2291310
NM_133378.4(TTN):c.10303+2234G>A rs6433728
NM_133378.4(TTN):c.10303+2439G>A rs78535378
NM_133378.4(TTN):c.10360+2007G>C rs200816462
NM_133378.4(TTN):c.10360+4523A>C rs200760091
NM_133378.4(TTN):c.10360+4587G>A rs77419653
NM_133378.4(TTN):c.10360+4802T>C rs139486133
NM_133378.4(TTN):c.10360+7337G>A rs145932311
NM_133378.4(TTN):c.10361-1172T>G rs200422152
NM_133378.4(TTN):c.10361-2130A>C rs770583611
NM_133378.4(TTN):c.10361-2728C>T rs201888760
NM_133378.4(TTN):c.10361-2877A>G rs199844346
NM_133378.4(TTN):c.10793G>A (p.Arg3598Lys) rs2742347
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.11137A>C (p.Thr3713Pro) rs780405420
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.11831A>C (p.Gln3944Pro) rs72648930
NM_133378.4(TTN):c.11852A>G (p.Glu3951Gly) rs72648931
NM_133378.4(TTN):c.12571G>A (p.Val4191Met) rs72648937
NM_133378.4(TTN):c.12581A>G (p.Lys4194Arg) rs190636272
NM_133378.4(TTN):c.12797A>G (p.Tyr4266Cys) rs72648939
NM_133378.4(TTN):c.12814G>T (p.Asp4272Tyr) rs72648940
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.14593A>G (p.Lys4865Glu) rs73973139
NM_133378.4(TTN):c.1492G>A (p.Val498Ile) rs72647851
NM_133378.4(TTN):c.15013G>A (p.Asp5005Asn) rs201263441
NM_133378.4(TTN):c.15044C>G (p.Thr5015Ser) rs72648949
NM_133378.4(TTN):c.15092A>G (p.Asn5031Ser) rs184412722
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.15569G>A (p.Ser5190Asn) rs11888217
NM_133378.4(TTN):c.1585G>A (p.Ala529Thr) rs143030869
NM_133378.4(TTN):c.16244C>T (p.Thr5415Met) rs16866475
NM_133378.4(TTN):c.16263A>T (p.Glu5421Asp) rs146828735
NM_133378.4(TTN):c.16443A>G (p.Ile5481Met) rs146627500
NM_133378.4(TTN):c.16603A>T (p.Ser5535Cys) rs149470241
NM_133378.4(TTN):c.16609G>A (p.Glu5537Lys) rs72648958
NM_133378.4(TTN):c.17066G>C (p.Gly5689Ala) rs200118743
NM_133378.4(TTN):c.1709C>T (p.Ala570Val) rs146690035
NM_133378.4(TTN):c.17129C>T (p.Ala5710Val) rs17355446
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.17441G>A (p.Gly5814Asp) rs72648964
NM_133378.4(TTN):c.17632G>A (p.Ala5878Thr) rs201394117
NM_133378.4(TTN):c.17646A>C (p.Glu5882Asp) rs786205315
NM_133378.4(TTN):c.17816G>A (p.Cys5939Tyr) rs189951108
NM_133378.4(TTN):c.178G>T (p.Asp60Tyr) rs35683768
NM_133378.4(TTN):c.18047C>A (p.Ser6016Tyr) rs187925021
NM_133378.4(TTN):c.18902G>A (p.Arg6301Gln) rs72648969
NM_133378.4(TTN):c.19054G>C (p.Asp6352His) rs72648970
NM_133378.4(TTN):c.19297G>A (p.Gly6433Arg) rs367826445
NM_133378.4(TTN):c.19445C>T (p.Ser6482Leu) rs17452588
NM_133378.4(TTN):c.19500C>G (p.Asn6500Lys) rs72648972
NM_133378.4(TTN):c.19570G>A (p.Asp6524Asn) rs72648973
NM_133378.4(TTN):c.19806C>G (p.Phe6602Leu) rs149523263
NM_133378.4(TTN):c.20920A>G (p.Ser6974Gly) rs72648980
NM_133378.4(TTN):c.21148A>G (p.Arg7050Gly) rs72648982
NM_133378.4(TTN):c.21220G>A (p.Val7074Ile) rs200103997
NM_133378.4(TTN):c.21232G>T (p.Val7078Leu) rs201571580
NM_133378.4(TTN):c.21241A>G (p.Lys7081Glu) rs72648984
NM_133378.4(TTN):c.21666T>A (p.Asp7222Glu) rs72648986
NM_133378.4(TTN):c.21749G>A (p.Arg7250Gln) rs201418615
NM_133378.4(TTN):c.21758G>A (p.Arg7253His) rs149855485
NM_133378.4(TTN):c.21887C>T (p.Ser7296Phe) rs201523784
NM_133378.4(TTN):c.21894G>T (p.Gln7298His) rs2562832
NM_133378.4(TTN):c.22204C>T (p.Arg7402Cys) rs72648987
NM_133378.4(TTN):c.22246G>A (p.Val7416Ile) rs141856116
NM_133378.4(TTN):c.22513G>A (p.Val7505Ile) rs16866457
NM_133378.4(TTN):c.22676A>G (p.Asn7559Ser) rs12693164
NM_133378.4(TTN):c.22762A>G (p.Ile7588Val) rs72648989
NM_133378.4(TTN):c.22949C>T (p.Pro7650Leu) rs13398235
NM_133378.4(TTN):c.23117A>G (p.Tyr7706Cys) rs199557654
NM_133378.4(TTN):c.23131A>G (p.Ile7711Val) rs72648994
NM_133378.4(TTN):c.23461T>C (p.Cys7821Arg) rs201229221
NM_133378.4(TTN):c.2432C>T (p.Thr811Ile) rs35813871
NM_133378.4(TTN):c.24530C>T (p.Thr8177Met) rs375209383
NM_133378.4(TTN):c.24775G>A (p.Val8259Ile) rs202160275
NM_133378.4(TTN):c.25396G>A (p.Val8466Ile) rs72649002
NM_133378.4(TTN):c.25421T>C (p.Ile8474Thr) rs4893852
NM_133378.4(TTN):c.26080A>T (p.Thr8694Ser) rs72650006
NM_133378.4(TTN):c.26206G>A (p.Ala8736Thr) rs189286381
NM_133378.4(TTN):c.26542C>T (p.His8848Tyr) rs72650011
NM_133378.4(TTN):c.26986G>T (p.Val8996Phe) rs111671438
NM_133378.4(TTN):c.27220G>A (p.Glu9074Lys) rs73038324
NM_133378.4(TTN):c.27832A>G (p.Ile9278Val) rs2042995
NM_133378.4(TTN):c.28132G>A (p.Gly9378Arg) rs2244492
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.28916G>A (p.Arg9639Lys) rs116676813
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.29555G>A (p.Arg9852His) rs36051007
NM_133378.4(TTN):c.3010G>A (p.Glu1004Lys) rs200902055
NM_133378.4(TTN):c.30484C>A (p.Pro10162Thr) rs532102837
NM_133378.4(TTN):c.30572A>G (p.Lys10191Arg) rs786205396
NM_133378.4(TTN):c.30663A>C (p.Glu10221Asp) rs140640738
NM_133378.4(TTN):c.30961G>A (p.Val10321Ile) rs202014478
NM_133378.4(TTN):c.3100G>A (p.Val1034Met) rs142951505
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.31484-1431A>G rs183220684
NM_133378.4(TTN):c.31484-235A>G rs200815663
NM_133378.4(TTN):c.31484-595A>T rs200840285
NM_133378.4(TTN):c.31484-977A>G rs200513156
NM_133378.4(TTN):c.31573+1169C>T rs370765948
NM_133378.4(TTN):c.31720C>T (p.Pro10574Ser) rs200992277
NM_133378.4(TTN):c.31741+282G>A rs201797790
NM_133378.4(TTN):c.31748A>G (p.Glu10583Gly) rs368056479
NM_133378.4(TTN):c.31780G>A (p.Val10594Met) rs73038314
NM_133378.4(TTN):c.32387C>T (p.Ala10796Val) rs148140756
NM_133378.4(TTN):c.32402C>G (p.Pro10801Arg) rs72650066
NM_133378.4(TTN):c.3241G>A (p.Ala1081Thr) rs55914517
NM_133378.4(TTN):c.3241G>T (p.Ala1081Ser) rs55914517
NM_133378.4(TTN):c.32794G>T (p.Val10932Phe) rs201944202
NM_133378.4(TTN):c.33817G>A (p.Asp11273Asn) rs201257644
NM_133378.4(TTN):c.3409G>C (p.Gly1137Arg) rs72647870
NM_133378.4(TTN):c.34367A>G (p.His11456Arg) rs2288563
NM_133378.4(TTN):c.34625T>C (p.Val11542Ala) rs34706299
NM_133378.4(TTN):c.35254A>G (p.Lys11752Glu) rs6723526
NM_133378.4(TTN):c.35899C>T (p.Arg11967Cys) rs12471771
NM_133378.4(TTN):c.3601A>G (p.Lys1201Glu) rs10497520
NM_133378.4(TTN):c.3605T>C (p.Val1202Ala) rs150667217
NM_133378.4(TTN):c.37274G>A (p.Gly12425Glu) rs200931793
NM_133378.4(TTN):c.37471G>A (p.Ala12491Thr) rs144668626
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.3884C>T (p.Ser1295Leu) rs1552280
NM_133378.4(TTN):c.38989G>T (p.Ala12997Ser) rs145520397
NM_133378.4(TTN):c.39373G>A (p.Val13125Ile) rs201717871
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.39611G>A (p.Arg13204Gln) rs72677233
NM_133378.4(TTN):c.39841C>A (p.Pro13281Thr) rs146181477
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.40649A>G (p.Asp13550Gly) rs376273101
NM_133378.4(TTN):c.4076A>G (p.Glu1359Gly) rs370978752
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.4177A>G (p.Ile1393Val) rs16866531
NM_133378.4(TTN):c.42215G>C (p.Ser14072Thr) rs55663050
NM_133378.4(TTN):c.42281A>C (p.Asn14094Thr) rs36043230
NM_133378.4(TTN):c.43010G>A (p.Arg14337His) rs191539637
NM_133378.4(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_133378.4(TTN):c.43778C>T (p.Ala14593Val) rs16866412
NM_133378.4(TTN):c.4396T>C (p.Phe1466Leu) rs151310601
NM_133378.4(TTN):c.43G>A (p.Val15Ile) rs201857541
NM_133378.4(TTN):c.45148C>T (p.Arg15050Cys) rs201213901
NM_133378.4(TTN):c.45392G>A (p.Arg15131His) rs72646808
NM_133378.4(TTN):c.45418A>G (p.Lys15140Glu) rs185913848
NM_133378.4(TTN):c.45419A>T (p.Lys15140Ile) rs2303832
NM_133378.4(TTN):c.45488T>C (p.Ile15163Thr) rs72646809
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.47036T>C (p.Met15679Thr) rs200585270
NM_133378.4(TTN):c.47114C>T (p.Pro15705Leu) rs201035511
NM_133378.4(TTN):c.47170G>C (p.Gly15724Arg) rs377512675
NM_133378.4(TTN):c.4739C>T (p.Thr1580Met) rs73973147
NM_133378.4(TTN):c.47650T>C (p.Ser15884Pro) rs372541479
NM_133378.4(TTN):c.47670C>G (p.Ser15890Arg) rs200550947
NM_133378.4(TTN):c.47849A>G (p.Lys15950Arg) rs72646823
NM_133378.4(TTN):c.48221T>A (p.Leu16074Gln) rs140714512
NM_133378.4(TTN):c.48397A>G (p.Asn16133Asp) rs1001238
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.50522G>A (p.Arg16841His) rs201505306
NM_133378.4(TTN):c.50732G>A (p.Arg16911His) rs2288569
NM_133378.4(TTN):c.50872G>A (p.Val16958Ile) rs377682563
NM_133378.4(TTN):c.51461T>C (p.Val17154Ala) rs116592778
NM_133378.4(TTN):c.51544G>A (p.Gly17182Ser) rs200732032
NM_133378.4(TTN):c.51614A>G (p.Glu17205Gly) rs371719028
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.53017G>C (p.Glu17673Gln) rs200212521
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.5479G>T (p.Ala1827Ser) rs141213991
NM_133378.4(TTN):c.54868A>G (p.Thr18290Ala) rs200689750
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.55648C>T (p.Arg18550Trp) rs200726948
NM_133378.4(TTN):c.55885A>G (p.Ile18629Val) rs72646855
NM_133378.4(TTN):c.56213G>A (p.Arg18738His) rs202240487
NM_133378.4(TTN):c.56470C>T (p.Arg18824Cys) rs72646859
NM_133378.4(TTN):c.56504C>T (p.Thr18835Ile) rs2042996
NM_133378.4(TTN):c.5668C>T (p.Arg1890Cys) rs146496197
NM_133378.4(TTN):c.57085G>A (p.Val19029Met) rs150661999
NM_133378.4(TTN):c.57388C>T (p.Arg19130Cys) rs72646861
NM_133378.4(TTN):c.57443C>T (p.Ser19148Leu) rs13021201
NM_133378.4(TTN):c.57755C>T (p.Thr19252Ile) rs56130023
NM_133378.4(TTN):c.57812C>T (p.Ala19271Val) rs55948748
NM_133378.4(TTN):c.58039C>A (p.Gln19347Lys) rs62618736
NM_133378.4(TTN):c.58910G>A (p.Arg19637Lys) rs72646869
NM_133378.4(TTN):c.59371G>A (p.Val19791Ile) rs2303838
NM_133378.4(TTN):c.59395T>C (p.Ser19799Pro) rs72646873
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.5993G>A (p.Arg1998His) rs144135510
NM_133378.4(TTN):c.60457G>A (p.Glu20153Lys) rs374492812
NM_133378.4(TTN):c.60733G>A (p.Glu20245Lys) rs200797552
NM_133378.4(TTN):c.62338G>A (p.Ala20780Thr) rs775146212
NM_133378.4(TTN):c.62992G>C (p.Gly20998Arg) rs55801134
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.63665G>A (p.Arg21222His) rs55677134
NM_133378.4(TTN):c.64001T>C (p.Ile21334Thr) rs55837610
NM_133378.4(TTN):c.64289G>A (p.Arg21430His) rs10164753
NM_133378.4(TTN):c.64433C>T (p.Ala21478Val) rs146767076
NM_133378.4(TTN):c.64442T>C (p.Leu21481Pro) rs56399205
NM_133378.4(TTN):c.65078G>A (p.Arg21693Gln) rs142874389
NM_133378.4(TTN):c.65099G>A (p.Arg21700His) rs140018785
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.65900C>A (p.Ser21967Tyr) rs201804005
NM_133378.4(TTN):c.66800A>G (p.Tyr22267Cys) rs201724962
NM_133378.4(TTN):c.67135C>T (p.Arg22379Cys) rs744426
NM_133378.4(TTN):c.6713C>T (p.Thr2238Met) rs201284459
NM_133378.4(TTN):c.67268T>C (p.Ile22423Thr) rs744427
NM_133378.4(TTN):c.6727G>T (p.Asp2243Tyr) rs138787974
NM_133378.4(TTN):c.68639G>A (p.Ser22880Asn) rs3813243
NM_133378.4(TTN):c.69016T>C (p.Tyr23006His) rs3813245
NM_133378.4(TTN):c.69035C>A (p.Thr23012Lys) rs56372592
NM_133378.4(TTN):c.69035C>T (p.Thr23012Met) rs56372592
NM_133378.4(TTN):c.69283G>A (p.Asp23095Asn) rs143186270
NM_133378.4(TTN):c.69512C>G (p.Ala23171Gly) rs56391938
NM_133378.4(TTN):c.69934A>G (p.Thr23312Ala) rs56018860
NM_133378.4(TTN):c.70012G>A (p.Glu23338Lys) rs56341835
NM_133378.4(TTN):c.70144C>T (p.Leu23382Phe) rs376814602
NM_133378.4(TTN):c.70970T>C (p.Ile23657Thr) rs12463674
NM_133378.4(TTN):c.71522G>A (p.Arg23841His) rs72648206
NM_133378.4(TTN):c.71561T>C (p.Ile23854Thr) rs3731745
NM_133378.4(TTN):c.71615G>A (p.Arg23872His) rs56044609
NM_133378.4(TTN):c.7174G>A (p.Gly2392Ser) rs4894048
NM_133378.4(TTN):c.71908A>G (p.Thr23970Ala) rs150682764
NM_133378.4(TTN):c.72158C>A (p.Thr24053Lys) rs3731746
NM_133378.4(TTN):c.72158C>T (p.Thr24053Met) rs3731746
NM_133378.4(TTN):c.72849C>T (p.Phe24283=) rs189790119
NM_133378.4(TTN):c.72931C>A (p.Gln24311Lys) rs79926414
NM_133378.4(TTN):c.73154C>T (p.Thr24385Met) rs377506142
NM_133378.4(TTN):c.73201G>A (p.Val24401Ile) rs377667066
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.74531C>A (p.Thr24844Lys) rs201489661
NM_133378.4(TTN):c.74856C>A (p.Asn24952Lys) rs56264840
NM_133378.4(TTN):c.74984G>A (p.Arg24995His) rs118079537
NM_133378.4(TTN):c.75094G>A (p.Ala25032Thr) rs11896637
NM_133378.4(TTN):c.75106G>A (p.Gly25036Ser) rs199929362
NM_133378.4(TTN):c.75359G>A (p.Arg25120His) rs185002960
NM_133378.4(TTN):c.75467T>G (p.Val25156Gly) rs201896662
NM_133378.4(TTN):c.75619A>G (p.Ile25207Val) rs3829746
NM_133378.4(TTN):c.7619G>A (p.Arg2540His) rs397517725
NM_133378.4(TTN):c.76444A>G (p.Ile25482Val) rs201348580
NM_133378.4(TTN):c.76559G>A (p.Ser25520Asn) rs200450022
NM_133378.4(TTN):c.77167C>T (p.Arg25723Cys) rs192152102
NM_133378.4(TTN):c.78979G>A (p.Val26327Met) rs201290358
NM_133378.4(TTN):c.79231G>A (p.Val26411Ile) rs201687390
NM_133378.4(TTN):c.79708C>A (p.Pro26570Thr) rs72648227
NM_133378.4(TTN):c.80104G>A (p.Val26702Ile) rs141624266
NM_133378.4(TTN):c.80479T>C (p.Phe26827Leu) rs55940667
NM_133378.4(TTN):c.80483T>C (p.Ile26828Thr) rs9808377
NM_133378.4(TTN):c.80581A>G (p.Ile26861Val) rs373738818
NM_133378.4(TTN):c.80690C>T (p.Ser26897Phe) rs146181116
NM_133378.4(TTN):c.81029G>A (p.Arg27010His) rs374147064
NM_133378.4(TTN):c.81613A>T (p.Ile27205Leu) rs77853750
NM_133378.4(TTN):c.81682G>A (p.Val27228Met) rs72648237
NM_133378.4(TTN):c.81722G>A (p.Arg27241Gln) rs72648238
NM_133378.4(TTN):c.82004C>G (p.Thr27335Ser) rs72648240
NM_133378.4(TTN):c.82832G>A (p.Arg27611His) rs149567378
NM_133378.4(TTN):c.83122T>G (p.Cys27708Gly) rs150430592
NM_133378.4(TTN):c.8314G>A (p.Val2772Met) rs143035953
NM_133378.4(TTN):c.83264G>A (p.Arg27755Lys) rs11887722
NM_133378.4(TTN):c.83917G>A (p.Gly27973Arg) rs200854704
NM_133378.4(TTN):c.84061G>A (p.Ala28021Thr) rs148617456
NM_133378.4(TTN):c.84305T>C (p.Ile28102Thr) rs369342933
NM_133378.4(TTN):c.84427G>A (p.Val28143Met) rs747122
NM_133378.4(TTN):c.84472C>T (p.Pro28158Ser) rs72648247
NM_133378.4(TTN):c.84487A>G (p.Ile28163Val) rs16866391
NM_133378.4(TTN):c.8467G>T (p.Val2823Phe) rs33917087
NM_133378.4(TTN):c.84833T>C (p.Val28278Ala) rs77968867
NM_133378.4(TTN):c.85102G>A (p.Val28368Ile) rs200476500
NM_133378.4(TTN):c.85301G>T (p.Ser28434Ile) rs180975448
NM_133378.4(TTN):c.85663G>C (p.Val28555Leu) rs202096200
NM_133378.4(TTN):c.86197G>A (p.Val28733Ile) rs67665715
NM_133378.4(TTN):c.86312C>T (p.Thr28771Ile) rs184078016
NM_133378.4(TTN):c.86342G>A (p.Arg28781His) rs181104321
NM_133378.4(TTN):c.87147T>A (p.Asp29049Glu) rs72648256
NM_133378.4(TTN):c.87343A>G (p.Ser29115Gly) rs72648257
NM_133378.4(TTN):c.87374C>A (p.Ala29125Asp) rs2288326
NM_133378.4(TTN):c.87538C>T (p.Arg29180Cys) rs142525903
NM_133378.4(TTN):c.87593C>T (p.Ser29198Phe) rs191484894
NM_133378.4(TTN):c.87851T>C (p.Leu29284Pro) rs62621206
NM_133378.4(TTN):c.87878A>G (p.Tyr29293Cys) rs59148238
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.88454T>C (p.Ile29485Thr) rs62621236
NM_133378.4(TTN):c.89240C>T (p.Thr29747Ile) rs56027402
NM_133378.4(TTN):c.8938G>A (p.Ala2980Thr) rs72647885
NM_133378.4(TTN):c.89627G>C (p.Arg29876Pro) rs184922462
NM_133378.4(TTN):c.89834G>A (p.Arg29945His) rs201080904
NM_133378.4(TTN):c.89909G>A (p.Arg29970His) rs3731749
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.90460A>T (p.Ile30154Phe) rs72648270
NM_133378.4(TTN):c.90538C>T (p.Arg30180Cys) rs72648272
NM_133378.4(TTN):c.90563C>T (p.Thr30188Ile) rs199805060
NM_133378.4(TTN):c.90590C>G (p.Ala30197Gly) rs72648273
NM_133378.4(TTN):c.90796G>A (p.Glu30266Lys) rs199761901
NM_133378.4(TTN):c.90937C>T (p.Pro30313Ser) rs367979582
NM_133378.4(TTN):c.91189G>C (p.Asp30397His) rs186405108
NM_133378.4(TTN):c.91208G>A (p.Arg30403His) rs4894028
NM_133378.4(TTN):c.92522G>A (p.Cys30841Tyr) rs201112096
NM_133378.4(TTN):c.92755C>T (p.Pro30919Ser) rs72629779
NM_133378.4(TTN):c.92875G>A (p.Val30959Ile) rs2278196
NM_133378.4(TTN):c.93278G>A (p.Arg31093Lys) rs201857158
NM_133378.4(TTN):c.9338G>A (p.Arg3113His) rs141258018
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.94004G>A (p.Arg31335His) rs72629782
NM_133378.4(TTN):c.94099A>G (p.Ile31367Val) rs56376197
NM_133378.4(TTN):c.94187G>A (p.Arg31396His) rs55669553
NM_133378.4(TTN):c.94399G>A (p.Asp31467Asn) rs144963736
NM_133378.4(TTN):c.94486G>A (p.Ala31496Thr) rs200237973
NM_133378.4(TTN):c.9461A>G (p.Lys3154Arg) rs4893853
NM_133378.4(TTN):c.9488G>A (p.Arg3163His) rs149755500
NM_133378.4(TTN):c.94891A>G (p.Ile31631Val) rs56347248
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.95708G>A (p.Arg31903Gln) rs149391616
NM_133378.4(TTN):c.96077G>A (p.Arg32026His) rs3829747
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.96872G>A (p.Arg32291Gln) rs68080670
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.9781G>A (p.Val3261Met) rs2291311
NM_133378.4(TTN):c.97825G>A (p.Val32609Met) rs55865284
NM_133378.4(TTN):c.98065G>A (p.Glu32689Lys) rs56324595
NM_133378.4(TTN):c.98083G>T (p.Ala32695Ser) rs67254537
NM_133378.4(TTN):c.98084C>T (p.Ala32695Val) rs66961115
NM_133378.4(TTN):c.982C>T (p.Arg328Cys) rs16866538
NM_133378.4(TTN):c.98639G>A (p.Arg32880Gln) rs369703073
NM_133378.4(TTN):c.98876A>T (p.Glu32959Val) rs55725279
NM_133378.4(TTN):c.98915T>C (p.Ile32972Thr) rs55880440
NM_133378.4(TTN):c.98971G>C (p.Glu32991Gln) rs199632397
NM_133378.4(TTN):c.99083C>T (p.Thr33028Ile) rs55842557
NM_133378.4(TTN):c.99385G>C (p.Glu33129Gln) rs199531140
NM_133378.4(TTN):c.99526A>G (p.Ile33176Val) rs142336788
NM_133378.4(TTN):c.99563T>C (p.Val33188Ala) rs16866378
NM_133378.4(TTN):c.99872T>C (p.Met33291Thr) rs72629793
NM_133379.4(TTN):c.10646G>A (p.Arg3549His) rs148115514
NM_133379.4(TTN):c.11075G>C (p.Ser3692Thr) rs147314430
NM_133379.4(TTN):c.12226G>A (p.Glu4076Lys) rs144690298
NM_133379.4(TTN):c.12716C>T (p.Ala4239Val) rs72647901
NM_133379.4(TTN):c.13123G>T (p.Ala4375Ser) rs72647902
NM_133379.4(TTN):c.13859A>C (p.Gln4620Pro) rs139172299
NM_133379.4(TTN):c.13948C>T (p.Pro4650Ser) rs149748934
NM_133379.4(TTN):c.14327T>C (p.Leu4776Ser) rs142132973
NM_133379.4(TTN):c.14526T>A (p.Asn4842Lys) rs776361113
NM_133379.4(TTN):c.14812A>G (p.Met4938Val) rs145581345
NM_133379.4(TTN):c.16001C>T (p.Pro5334Leu) rs151253841
NM_133379.4(TTN):c.16160G>A (p.Cys5387Tyr) rs72648913
NM_133432.3(TTN):c.11866A>T (p.Ile3956Phe) rs34618570
NM_133432.3(TTN):c.12034G>A (p.Val4012Met) rs201437752
NM_133432.3(TTN):c.13145G>A (p.Gly4382Asp) rs55857742
NM_133432.3(TTN):c.13255A>C (p.Asn4419His) rs200204761
NM_133432.3(TTN):c.13262A>G (p.Tyr4421Cys) rs34706803
NM_133437.4(TTN):c.10670dup (p.Leu3558Thrfs) rs778172350
NM_144997.5(FLCN):c.1333G>A (p.Ala445Thr) rs41419545
NM_144997.5(FLCN):c.871+16T>A rs116643153
NM_144997.5(FLCN):c.871+47G>A rs142934950
NM_144997.6(FLCN):c.1523A>G (p.Lys508Arg) rs199643834
NM_144997.6(FLCN):c.268G>T (p.Ala90Ser) rs141140415
NM_144997.6(FLCN):c.586A>G (p.Ile196Val) rs201078144
NM_144997.6(FLCN):c.871+36G>A rs3744124
NM_144997.6(FLCN):c.959G>A (p.Arg320Gln) rs143483053
NM_145046.4(CALR3):c.215G>A (p.Gly72Asp) rs182376945
NM_145046.4(CALR3):c.245A>G (p.Lys82Arg) rs142951029
NM_145046.4(CALR3):c.850G>A (p.Asp284Asn) rs10404156
NM_170707.3(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_172201.1(KCNE2):c.170T>C (p.Ile57Thr) rs74315448
NM_172201.1(KCNE2):c.29C>T (p.Thr10Met) rs199473648
NM_172244.2(SGCD):c.712_714delAAG (p.Lys238del) rs397517924
NM_174934.3(SCN4B):c.112G>C (p.Ala38Pro) rs777894412
NM_174934.3(SCN4B):c.22G>A (p.Gly8Ser) rs149868494
NM_174934.3(SCN4B):c.607G>A (p.Val203Met) rs150312046
NM_198056.2(SCN5A):c.100C>T (p.Arg34Cys) rs6791924
NM_198056.2(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691
NM_198056.2(SCN5A):c.1673A>G (p.His558Arg) rs1805124
NM_198056.2(SCN5A):c.1967C>T (p.Pro656Leu) rs41313681
NM_198056.2(SCN5A):c.3269C>T (p.Pro1090Leu) rs1805125
NM_198056.2(SCN5A):c.3308C>A (p.Ser1103Tyr) rs7626962
NM_198056.2(SCN5A):c.3878T>C (p.Phe1293Ser) rs41311127
NM_198056.2(SCN5A):c.4478A>G (p.Lys1493Arg) rs199473260
NM_198056.2(SCN5A):c.5038G>A (p.Ala1680Thr) rs199473294
NM_198056.2(SCN5A):c.5455G>A (p.Asp1819Asn) rs137854619
NM_198056.2(SCN5A):c.5494C>G (p.Gln1832Glu) rs199473320
NM_198056.2(SCN5A):c.6010T>C (p.Phe2004Leu) rs41311117
NM_198156.2(VHL):c.269A>G (p.Asn90Ser) rs143985153
NM_201590.2(CACNB2):c.1044+4_1044+7dupAGTA rs1456201116
NM_201590.2(CACNB2):c.1534G>A (p.Ala512Thr) rs202218948
NM_201590.2(CACNB2):c.1654C>G (p.Arg552Gly) rs61733968
NM_201590.2(CACNB2):c.1654C>T (p.Arg552Trp) rs61733968
NM_201590.2(CACNB2):c.1803T>G (p.Asp601Glu) rs58225473
NM_201597.2(CACNB2):c.209G>A (p.Arg70His) rs150722502
TTN:c.100094G>A (p.Arg33365Gln) rs55742743
TTN:c.1003G>A (p.Val335Met) rs72647846
TTN:c.101766G>C (p.Gln33922His) rs55886356
TTN:c.105180G>C (p.Glu35060Asp) rs56308529
TTN:c.19204A>G (p.Met6402Val) rs72648954
TTN:c.22384G>C (p.Asp7462His) rs12693166
TTN:c.2270C>T (p.Pro757Leu) rs116307796
TTN:c.24431A>C (p.Glu8144Ala) rs16866465
TTN:c.25064C>A (p.Ala8355Glu) rs2627043
TTN:c.25274G>A (p.Ser8425Asn) rs13390491
TTN:c.28313G>A (p.Arg9438Gln) rs72648998
TTN:c.32254G>A (p.Val10752Ile) rs72650028
TTN:c.3668C>T (p.Ala1223Val) rs78269740
TTN:c.4246C>T (p.Arg1416Cys) rs72647875
TTN:c.4715G>A (p.Arg1572Gln) rs12476289
TTN:c.57464G>A (p.Arg19155Lys) rs72646833
TTN:c.6353T>C (p.Ile2118Thr) rs56404770
TTN:c.7830G>C (p.Met2610Ile) rs56142888
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.8492G>A (p.Ser2831Asn) rs2306636
TTN:c.95035G>A (p.Asp31679Asn) rs116567963

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