ClinVar Miner

Variants from Biesecker Lab/Clinical Genomics Section, National Institutes of Health with conflicting interpretations

Location: United States  Primary collection method: research
Minimum review status of the submission from Biesecker Lab/Clinical Genomics Section, National Institutes of Health: Collection method of the submission from Biesecker Lab/Clinical Genomics 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 per condition Variants with at least 2 submissions on the same condition 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 conflict
473 471 266 600 742 4 57 1299

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/Clinical Genomics Section, National Institutes of Health pathogenic likely pathogenic uncertain significance likely benign benign drug response established risk allele risk factor
pathogenic 0 8 2 1 0 1 0 1
likely pathogenic 8 1 3 1 0 0 0 0
uncertain significance 7 20 149 454 191 0 1 1
likely benign 3 15 226 28 240 0 0 0
benign 6 4 38 344 88 0 0 2

Submitter to submitter summary #

Total submitters: 93
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition 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 conflict
GeneDx 0 712 135 130 373 1 7 646
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 299 46 232 174 0 0 452
PreventionGenetics, part of Exact Sciences 0 339 103 67 167 1 1 339
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 484 56 108 174 0 0 338
CeGaT Center for Human Genetics Tuebingen 0 207 56 97 155 0 2 310
Ambry Genetics 0 621 0 90 193 0 0 283
Eurofins Ntd Llc (ga) 0 280 82 70 112 0 1 265
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 235 89 82 75 1 2 249
Clinical Genetics, Academic Medical Center 0 395 37 123 66 0 1 227
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 286 54 98 67 0 3 222
Genetic Services Laboratory, University of Chicago 0 113 47 73 82 0 1 203
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 83 34 135 27 0 0 196
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 151 17 106 35 0 0 158
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 60 20 55 0 0 135
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 335 24 49 60 0 1 134
Quest Diagnostics Nichols Institute San Juan Capistrano 0 1 48 6 72 0 2 128
Athena Diagnostics Inc 0 193 8 70 30 0 0 108
Mayo Clinic Laboratories, Mayo Clinic 0 31 51 12 39 0 0 102
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 204 6 60 33 0 0 99
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 33 13 18 0 2 66
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 0 27 7 30 0 0 64
Department of Pathology and Laboratory Medicine, Sinai Health System 0 10 34 9 18 0 0 61
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 0 38 11 12 0 0 61
Illumina Laboratory Services, Illumina 0 29 10 18 28 0 2 58
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 9 26 7 20 0 1 54
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 22 17 21 15 0 0 53
Invitae 0 84 3 11 20 0 10 44
CSER _CC_NCGL, University of Washington 0 19 9 9 24 0 1 43
Revvity Omics, Revvity 0 156 3 2 30 0 1 36
Fulgent Genetics, Fulgent Genetics 0 31 20 8 4 0 0 32
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 22 0 1 30 0 0 31
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 0 2 19 4 2 0 0 25
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 1 0 0 3 0 21 24
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 61 0 14 7 0 0 21
Mendelics 0 12 1 5 13 0 0 19
Color Diagnostics, LLC DBA Color Health 0 39 0 3 13 0 0 16
OMIM 0 5 2 3 3 4 3 14
GeneKor MSA 0 0 13 0 0 0 0 13
Blueprint Genetics 0 7 0 7 3 0 2 12
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 0 4 1 4 0 1 10
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 8 2 2 5 0 0 9
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto 0 5 4 2 2 0 0 8
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 13 0 4 3 0 1 8
Department of Pathology and Molecular Medicine, Queen's University 0 1 3 1 3 0 0 7
Dept of Medical Biology, Uskudar University 0 0 0 1 5 0 0 6
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 1 1 1 2 0 0 4
Baylor Genetics 0 4 1 1 0 0 1 3
Breast Cancer Information Core (BIC) (BRCA2) 0 3 0 0 3 0 0 3
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 6 0 3 0 0 0 3
Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences 0 0 0 0 0 0 3 3
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 1 0 1 2 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 1 1 0 1 3
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 6 0 2 1 0 0 3
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 2 1 2 0 0 0 3
BRCAlab, Lund University 0 2 0 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 1 1 0 0 0 1 2
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 3 0 2 0 0 0 2
Breast Cancer Information Core (BIC) (BRCA1) 0 0 0 0 2 0 0 2
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 2 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 4 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 3 0 1 0 0 1 2
Human Genomics Unit, Institute for molecular medicine Finland (FIMM) 0 0 0 0 1 0 1 2
3DMed Clinical Laboratory Inc 0 0 2 0 0 0 0 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 3 0 0 1 0 1 2
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 0 1 1 0 2
AiLife Diagnostics, AiLife Diagnostics 0 16 0 0 0 0 2 2
Molecular Genetics, Royal Melbourne Hospital 0 0 0 1 1 0 0 2
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 6 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 2 0 0 0 0 1 1
MGZ Medical Genetics Center 0 9 0 0 0 0 1 1
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 1 0 0 0 1
Counsyl 0 10 0 1 0 0 0 1
Sharing Clinical Reports Project (SCRP) 0 3 0 1 0 0 0 1
PharmGKB 0 0 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 1 0 0 1
Pathway Genomics 0 3 0 1 0 0 0 1
Clinical Genetics and Genomics, Karolinska University Hospital 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
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 0 0 0 1 1
Medical Research Institute, Tokyo Medical and Dental University 0 0 0 0 0 0 1 1
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 0 0 0 1 1
Genetics and Molecular Pathology, SA Pathology 0 5 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Royal Brompton Clinical Genetics And Genomics Laboratory, NHS South East Genomic Laboratory Hub 0 0 0 1 0 0 0 1
Fundacion Hipercolesterolemia Familiar 0 0 0 0 0 0 1 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 0 0 1 0 0 0 1
Iberoamerican FH Network 0 0 0 0 0 0 1 1
Gharavi Laboratory, Columbia University 0 0 1 0 0 0 0 1
deCODE genetics, Amgen 0 1 0 1 0 0 0 1
Myriad Genetics, Inc. 0 2 0 1 0 0 0 1
Division of Medical Genetics, University of Washington 0 0 0 0 0 0 1 1
New York Genome Center 0 2 0 0 1 0 0 1
Biology Molecular and Stem Cell Facilities Laboratory, National Cardiovascular Center, Harapan Kita Hospital 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 1299
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000719.7(CACNA1C):c.5445-511= rs10774054 0.99951
NM_005751.5(AKAP9):c.8935C>T (p.Pro2979Ser) rs1063242 0.99690
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552 0.82099
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg) rs2244492 0.44551
NM_004329.3(BMPR1A):c.4C>A (p.Pro2Thr) rs11528010 0.40719
NM_032578.4(MYPN):c.3403C>A (p.Pro1135Thr) rs7079481 0.40619
NM_032578.4(MYPN):c.1884C>G (p.Phe628Leu) rs10823148 0.39447
NM_032578.4(MYPN):c.2072G>A (p.Ser691Asn) rs10997975 0.39270
NM_032578.4(MYPN):c.2120G>A (p.Ser707Asn) rs7916821 0.39079
NM_004100.5(EYA4):c.829G>A (p.Gly277Ser) rs9493627 0.37885
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321 0.37107
NM_001267550.2(TTN):c.56101A>G (p.Asn18701Asp) rs1001238 0.35628
NM_001267550.2(TTN):c.31564A>G (p.Ile10522Val) rs2042995 0.35566
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val) rs3829746 0.35516
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr) rs9808377 0.35383
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile) rs2042996 0.34979
NM_005751.5(AKAP9):c.8375A>G (p.Asn2792Ser) rs6960867 0.33817
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683 0.30966
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942 0.30784
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu) rs2627043 0.29094
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) rs3219489 0.26720
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met) rs3731746 0.24029
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile) rs2303838 0.23912
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.23048
NM_001105206.3(LAMA4):c.3356C>G (p.Pro1119Arg) rs1050349 0.21500
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His) rs36051007 0.21486
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr) rs12463674 0.21485
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821 0.18742
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_001267550.2(TTN):c.2432C>T (p.Thr811Ile) rs35813871 0.17564
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939 0.16640
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His) rs12693166 0.16435
NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser) rs12693164 0.16204
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala) rs16866465 0.15861
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_006206.6(PDGFRA):c.1432T>C (p.Ser478Pro) rs35597368 0.15258
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg) rs2234962 0.14532
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His) rs3731749 0.14445
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299 0.13777
NM_000535.7(PMS2):c.1621= (p.Lys541=) rs2228006 0.13518
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His) rs2288569 0.13356
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His) rs3829747 0.13294
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys) rs744426 0.13213
NM_001148.6(ANK2):c.7106T>C (p.Val2369Ala) rs28377576 0.12654
NM_001267550.2(TTN):c.92131G>A (p.Val30711Met) rs747122 0.11550
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys) rs2742347 0.11354
NM_001370259.2(MEN1):c.1621= (p.Thr541=) rs2959656 0.10623
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys) rs16866538 0.10360
NM_005751.5(AKAP9):c.7451A>G (p.Lys2484Arg) rs35759833 0.09968
NM_001267550.2(TTN):c.29153T>C (p.Ile9718Thr) rs4893852 0.08349
NM_001267550.2(TTN):c.96158T>C (p.Ile32053Thr) rs62621236 0.08189
NM_001267550.2(TTN):c.26681C>T (p.Pro8894Leu) rs13398235 0.07839
NM_000222.3(KIT):c.1621A>C (p.Met541Leu) rs3822214 0.07727
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120 0.07445
NM_144997.7(FLCN):c.871+36G>A rs3744124 0.07420
NM_001267550.2(TTN):c.42958A>G (p.Lys14320Glu) rs6723526 0.07129
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg) rs28711516 0.06950
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His) rs10164753 0.06031
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850 0.05782
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323 0.05742
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser) rs4894048 0.05739
NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala) rs16866378 0.05725
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn) rs11888217 0.05644
NM_001267550.2(TTN):c.9461A>G (p.Lys3154Arg) rs4893853 0.05020
NM_001267550.2(TTN):c.8492G>A (p.Ser2831Asn) rs2306636 0.04907
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile) rs56142888 0.04798
NM_001048174.2(MUTYH):c.22G>A (p.Val8Met) rs3219484 0.04794
NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln) rs12476289 0.04792
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_005477.3(HCN4):c.107G>A (p.Gly36Glu) rs143090627 0.04452
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln) rs45559835 0.04292
NM_001105206.3(LAMA4):c.460C>T (p.Arg154Trp) rs11757455 0.04245
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998 0.04075
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn) rs3813243 0.04071
NM_001267550.2(TTN):c.98912G>A (p.Arg32971His) rs4894028 0.03961
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_001267550.2(TTN):c.100579G>A (p.Val33527Ile) rs2278196 0.03742
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val) rs16866412 0.03700
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173 0.03693
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys) rs73038324 0.03639
NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile) rs67665715 0.03523
NM_001267550.2(TTN):c.82798G>A (p.Ala27600Thr) rs11896637 0.03502
NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val) rs16866531 0.03468
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp) rs56308529 0.03418
NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val) rs17355446 0.02915
NM_001267550.2(TTN):c.36299A>T (p.Glu12100Val) rs73973133 0.02781
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02655
NM_001083603.1(PTCH1):c.163G>C (p.Asp55His) rs73527759 0.02608
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986 0.02522
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr) rs35683768 0.02431
NM_001267550.2(TTN):c.22786G>C (p.Asp7596His) rs72648970 0.02369
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu) rs13021201 0.02363
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_000540.3(RYR1):c.11266C>G (p.Gln3756Glu) rs4802584 0.02143
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg) rs2288563 0.02080
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile) rs2303832 0.02072
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly) rs72648982 0.02056
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249 0.02007
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His) rs3813245 0.01993
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala) rs56018860 0.01992
NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly) rs72648257 0.01992
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr) rs3731745 0.01991
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile) rs56309296 0.01985
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr) rs56365600 0.01984
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys) rs56057221 0.01984
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser) rs72650006 0.01917
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val) rs35997569 0.01914
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145 0.01900
NM_001267550.2(TTN):c.37461A>T (p.Glu12487Asp) rs200021871 0.01863
NM_032578.4(MYPN):c.2410G>A (p.Gly804Arg) rs62620248 0.01839
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_001267550.2(TTN):c.45206A>T (p.Glu15069Val) rs114331773 0.01832
NM_001267550.2(TTN):c.10850C>T (p.Ser3617Phe) rs57389274 0.01798
NM_001267550.2(TTN):c.542G>A (p.Ser181Asn) rs72647843 0.01782
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858 0.01767
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile) rs56027402 0.01724
NM_133379.5(TTN):c.13165G>A (p.Val4389Ile) rs72648903 0.01724
NM_000245.4(MET):c.1124A>G (p.Asn375Ser) rs33917957 0.01723
NM_001105206.3(LAMA4):c.280G>A (p.Gly94Ser) rs35349917 0.01717
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) rs4987188 0.01714
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn) rs72648962 0.01709
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) rs2229995 0.01693
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile) rs72647851 0.01678
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323 0.01675
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys) rs72648987 0.01656
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324 0.01651
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val) rs72648954 0.01649
NM_001267550.2(TTN):c.98164A>T (p.Ile32722Phe) rs72648270 0.01635
NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val) rs56376197 0.01633
NM_006206.6(PDGFRA):c.1019G>A (p.Arg340Gln) rs77524207 0.01633
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe) rs33917087 0.01611
NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920 0.01583
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys) rs72647875 0.01559
NM_001105206.3(LAMA4):c.4646A>G (p.Asn1549Ser) rs12110554 0.01544
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr) rs744427 0.01542
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_005751.5(AKAP9):c.10331A>G (p.Gln3444Arg) rs34956633 0.01509
NM_001267550.2(TTN):c.65743C>A (p.Gln21915Lys) rs62618736 0.01503
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys) rs79926414 0.01477
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His) rs56307213 0.01455
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val) rs16866391 0.01426
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076 0.01409
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr) rs36043230 0.01390
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys) rs56324595 0.01363
NM_001267550.2(TTN):c.10700G>A (p.Ser3567Asn) rs72955213 0.01357
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile) rs16866457 0.01351
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_133379.5(TTN):c.13478A>C (p.Lys4493Thr) rs78457662 0.01346
NM_001267550.2(TTN):c.12235A>G (p.Ile4079Val) rs34070843 0.01345
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val) rs55948748 0.01336
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly) rs11203289 0.01309
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys) rs72646869 0.01305
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met) rs16866475 0.01294
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743 0.01280
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01276
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val) rs72647877 0.01259
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys) rs116676813 0.01242
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01228
NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser) rs72629779 0.01213
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) rs55801134 0.01212
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725 0.01203
NM_001267550.2(TTN):c.1003G>A (p.Val335Met) rs72647846 0.01195
NM_001267550.2(TTN):c.36625G>T (p.Val12209Leu) rs72650053 0.01188
NM_001267550.2(TTN):c.11719C>G (p.Leu3907Val) rs55853696 0.01185
NM_001267550.2(TTN):c.32254G>A (p.Val10752Ile) rs72650028 0.01184
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg) rs17355460 0.01172
NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro) rs62621206 0.01151
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr) rs55880440 0.01150
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809 0.01131
NM_002234.4(KCNA5):c.751G>A (p.Ala251Thr) rs12720442 0.01115
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu) rs77853750 0.01096
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met) rs55865284 0.01093
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln) rs3219497 0.01092
NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser) rs67254537 0.01080
NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val) rs66961115 0.01079
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp) rs36021856 0.01079
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01077
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile) rs55842557 0.01073
NM_032578.4(MYPN):c.2447C>T (p.Pro816Leu) rs111965755 0.01059
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) rs41289902 0.01045
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544 0.01031
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile) rs72646850 0.01020
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met) rs73038314 0.01013
NM_001267550.2(TTN):c.19004A>G (p.Asp6335Gly) rs72648951 0.01012
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe) rs140118273 0.00997
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln) rs34819099 0.00971
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys) rs12471771 0.00967
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139 0.00960
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu) rs2227968 0.00959
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209 0.00948
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176 0.00917
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu) rs72629787 0.00909
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_006206.6(PDGFRA):c.236G>A (p.Gly79Asp) rs36035373 0.00897
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr) rs36210417 0.00822
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317 0.00818
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00792
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr) rs138787974 0.00778
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) rs55886356 0.00774
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00760
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320 0.00758
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His) rs59887778 0.00758
NM_020297.4(ABCC9):c.3409G>A (p.Val1137Ile) rs147895473 0.00739
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg) rs148398509 0.00737
NM_005751.5(AKAP9):c.9929G>A (p.Arg3310Gln) rs78351282 0.00735
NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly) rs202111971 0.00732
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927 0.00729
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met) rs77351975 0.00719
NM_001267550.2(TTN):c.63026G>A (p.Arg21009Gln) rs72646851 0.00718
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_003001.5(SDHC):c.*84G>C rs201210474 0.00703
NM_001267550.2(TTN):c.57464G>A (p.Arg19155Lys) rs72646833 0.00702
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu) rs17452588 0.00701
NM_001267550.2(TTN):c.24160A>T (p.Ile8054Leu) rs72648976 0.00701
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn) rs17354992 0.00698
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu) rs16962093 0.00694
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077 0.00679
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836 0.00678
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884 0.00677
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937 0.00675
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val) rs72648960 0.00666
NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys) rs35924492 0.00660
NM_014000.3(VCL):c.2801C>T (p.Ala934Val) rs16931179 0.00658
NM_000245.4(MET):c.948A>G (p.Ile316Met) rs35225896 0.00641
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) rs72677242 0.00641
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly) rs146983095 0.00634
NM_024334.3(TMEM43):c.953C>T (p.Ala318Val) rs11924644 0.00629
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961 0.00618
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe) rs34618570 0.00613
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys) rs12720445 0.00612
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His) rs185002960 0.00608
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00601
NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023 0.00601
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_133379.5(TTN):c.11006A>G (p.Asp3669Gly) rs72647896 0.00591
NM_001267550.2(TTN):c.2270C>T (p.Pro757Leu) rs116307796 0.00586
NM_005751.5(AKAP9):c.9092A>G (p.Gln3031Arg) rs61757673 0.00583
NM_002471.4(MYH6):c.2579G>A (p.Arg860His) rs115845031 0.00573
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_001267550.2(TTN):c.11969C>T (p.Pro3990Leu) rs33971253 0.00570
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_133379.5(TTN):c.13936A>G (p.Lys4646Glu) rs140909116 0.00562
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met) rs73973147 0.00558
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly) rs72646885 0.00553
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr) rs56128843 0.00552
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00550
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr) rs56404770 0.00546
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031 0.00544
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464 0.00527
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His) rs72677237 0.00519
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His) rs56044609 0.00516
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser) rs144922355 0.00496
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu) rs72648984 0.00493
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713 0.00491
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn) rs116567963 0.00481
NM_145046.5(CALR3):c.850G>A (p.Asp284Asn) rs10404156 0.00473
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942 0.00471
NM_001148.6(ANK2):c.9061G>A (p.Ala3021Thr) rs74348333 0.00465
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val) rs72650029 0.00461
NM_002471.4(MYH6):c.86G>A (p.Arg29Gln) rs150574114 0.00455
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_002234.4(KCNA5):c.929C>T (p.Pro310Leu) rs17215402 0.00439
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569 0.00420
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_002471.4(MYH6):c.622G>A (p.Asp208Asn) rs142027794 0.00415
NM_007078.3(LDB3):c.352G>A (p.Val118Met) rs35507268 0.00408
NM_001267550.2(TTN):c.59165T>C (p.Val19722Ala) rs116592778 0.00406
NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys) rs2230232 0.00406
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766 0.00405
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln) rs72647894 0.00404
NM_001148.6(ANK2):c.4744C>T (p.Arg1582Trp) rs35249198 0.00403
NM_133379.5(TTN):c.13863G>A (p.Met4621Ile) rs77419653 0.00403
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_172201.2(KCNE2):c.22A>G (p.Thr8Ala) rs2234916 0.00387
NM_001267550.2(TTN):c.7740T>G (p.Ile2580Met) rs146590898 0.00379
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011 0.00378
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) rs72648272 0.00377
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116 0.00372
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325 0.00364
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00359
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00358
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp) rs72648964 0.00354
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613 0.00346
NM_004281.4(BAG3):c.249C>A (p.His83Gln) rs151331972 0.00344
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116 0.00343
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_001148.6(ANK2):c.9454A>G (p.Thr3152Ala) rs61741040 0.00340
NM_001267550.2(TTN):c.10931G>A (p.Ser3644Asn) rs78535378 0.00334
NM_133379.5(TTN):c.11741C>G (p.Thr3914Arg) rs116593093 0.00333
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr) rs72648923 0.00332
NM_133379.5(TTN):c.12067G>A (p.Gly4023Arg) rs143253411 0.00332
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val) rs72646891 0.00322
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile) rs141624266 0.00316
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_001267550.2(TTN):c.15584A>G (p.Glu5195Gly) rs72648931 0.00307
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe) rs139913632 0.00307
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795 0.00306
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln) rs141973925 0.00301
NM_005751.5(AKAP9):c.2425A>G (p.Ile809Val) rs144615758 0.00298
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_005751.5(AKAP9):c.10858A>G (p.Ile3620Val) rs142729919 0.00296
NM_001267550.2(TTN):c.3409G>C (p.Gly1137Arg) rs72647870 0.00293
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343 0.00292
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584 0.00291
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293 0.00291
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu) rs72648256 0.00290
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile) rs202014478 0.00288
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln) rs72677233 0.00287
NM_001032283.3(TMPO):c.565+1240G>A rs139700737 0.00284
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00282
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His) rs181104321 0.00282
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln) rs148525155 0.00274
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val) rs72648994 0.00274
NM_001267550.2(TTN):c.24652A>G (p.Ser8218Gly) rs72648980 0.00273
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_001267550.2(TTN):c.970C>T (p.Pro324Ser) rs72647845 0.00265
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg) rs72646823 0.00264
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) rs72648949 0.00262
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala) rs77968867 0.00262
NM_005751.5(AKAP9):c.4519G>C (p.Asp1507His) rs34086871 0.00262
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689 0.00258
NM_133379.5(TTN):c.16160G>A (p.Cys5387Tyr) rs72648913 0.00258
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00255
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_000368.5(TSC1):c.1263+88A>G rs118203507 0.00250
NM_005751.5(AKAP9):c.6556T>C (p.Ser2186Pro) rs76177450 0.00250
NM_000077.5(CDKN2A):c.430C>T (p.Arg144Cys) rs116150891 0.00248
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys) rs72648981 0.00245
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482 0.00244
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260 0.00243
NM_002234.4(KCNA5):c.919C>T (p.Pro307Ser) rs17215409 0.00241
NM_005751.5(AKAP9):c.1372G>C (p.Ala458Pro) rs143894795 0.00241
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_014000.3(VCL):c.1907A>G (p.His636Arg) rs71579374 0.00240
NM_133379.5(TTN):c.13948C>T (p.Pro4650Ser) rs149748934 0.00240
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_004281.4(BAG3):c.463G>A (p.Ala155Thr) rs61756328 0.00239
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys) rs72629785 0.00238
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys) rs45454496 0.00235
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953 0.00233
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729 0.00231
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala) rs112592855 0.00231
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231 0.00229
NM_001037.5(SCN1B):c.448+193G>A rs66876876 0.00227
NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val) rs200840285 0.00224
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser) rs72648925 0.00223
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776 0.00223
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_001148.6(ANK2):c.7132G>A (p.Glu2378Lys) rs141191319 0.00222
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_002471.4(MYH6):c.3883G>C (p.Glu1295Gln) rs34935550 0.00217
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) rs56157422 0.00217
NM_005751.5(AKAP9):c.11225G>C (p.Arg3742Pro) rs34101758 0.00217
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys) rs72646861 0.00216
NM_000222.3(KIT):c.1199A>G (p.Asn400Ser) rs72549294 0.00215
NM_001267550.2(TTN):c.36347A>G (p.Glu12116Gly) rs200513156 0.00215
NM_000077.5(CDKN2A):c.150+37G>C rs45456595 0.00212
NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp) rs144888041 0.00212
NM_133379.5(TTN):c.11849T>C (p.Ile3950Thr) rs72647897 0.00211
NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala) rs182491843 0.00208
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr) rs147012990 0.00207
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr) rs139872140 0.00207
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile) rs72650019 0.00206
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr) rs55837610 0.00204
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232 0.00202
NM_001267550.2(TTN):c.46693G>T (p.Ala15565Ser) rs145520397 0.00201
NM_001148.6(ANK2):c.10901T>A (p.Val3634Asp) rs66785829 0.00200
NM_004415.4(DSP):c.4588G>T (p.Val1530Phe) rs141227126 0.00197
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val) rs147327414 0.00195
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873 0.00195
NM_001267550.2(TTN):c.22634G>A (p.Arg7545Gln) rs72648969 0.00193
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_001005242.3(PKP2):c.706G>T (p.Ala236Ser) rs62001015 0.00189
NM_007078.3(LDB3):c.1460G>A (p.Arg487His) rs146265188 0.00189
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052 0.00187
NM_001267550.2(TTN):c.81539T>C (p.Ile27180Thr) rs182126530 0.00185
NM_016599.5(MYOZ2):c.29A>C (p.Gln10Pro) rs76757102 0.00185
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val) rs200509948 0.00184
NM_019098.5(CNGB3):c.1148del (p.Thr383fs) rs397515360 0.00183
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586 0.00182
NM_003001.5(SDHC):c.*78G>A rs182629842 0.00182
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile) rs143326262 0.00181
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_001105206.3(LAMA4):c.5443G>A (p.Val1815Ile) rs3734292 0.00174
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr) rs189966800 0.00172
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_001148.6(ANK2):c.8354C>T (p.Ser2785Leu) rs145895389 0.00170
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950 0.00165
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639 0.00158
NM_005751.5(AKAP9):c.11273G>A (p.Arg3758His) rs141856443 0.00158
NM_032578.4(MYPN):c.1790G>A (p.Arg597His) rs150911078 0.00158
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met) rs3219496 0.00154
NM_001267550.2(TTN):c.36676A>G (p.Lys12226Glu) rs200815663 0.00154
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438 0.00153
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala) rs142992009 0.00153
NM_001267550.2(TTN):c.98267C>T (p.Thr32756Ile) rs199805060 0.00151
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_001005242.3(PKP2):c.2353G>A (p.Asp785Asn) rs151264959 0.00148
NM_002471.4(MYH6):c.2890G>T (p.Ala964Ser) rs144907522 0.00148
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_001267550.2(TTN):c.33416G>C (p.Arg11139Thr) rs72650040 0.00146
NM_144997.7(FLCN):c.871+16T>A rs116643153 0.00146
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys) rs72648972 0.00145
NM_000249.4(MLH1):c.2146G>A (p.Val716Met) rs35831931 0.00143
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser) rs200992277 0.00143
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr) rs117502839 0.00143
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304 0.00142
NM_001032283.3(TMPO):c.565+1696C>T rs141443652 0.00142
NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys) rs61757671 0.00142
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325 0.00140
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742 0.00139
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019 0.00138
NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln) rs142874389 0.00137
NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu) rs142401936 0.00137
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_001105206.3(LAMA4):c.1633C>T (p.Arg545Cys) rs138153075 0.00135
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=) rs148121889 0.00134
NM_001267550.2(TTN):c.72137C>T (p.Ala24046Val) rs146767076 0.00134
NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr) rs72647885 0.00134
NM_001267550.2(TTN):c.32480C>T (p.Ala10827Val) rs72650030 0.00133
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys) rs61729664 0.00128
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_001267550.2(TTN):c.37525G>A (p.Glu12509Lys) rs201797790 0.00125
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met) rs148123045 0.00120
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr) rs187925021 0.00118
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His) rs72646808 0.00118
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln) rs200212521 0.00117
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958 0.00116
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu) rs41313681 0.00115
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901 0.00115
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala) rs201218828 0.00113
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp) rs140640738 0.00113
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His) rs149567378 0.00113
NM_133379.5(TTN):c.14492G>A (p.Cys4831Tyr) rs150615457 0.00112
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_001267550.2(TTN):c.13859G>A (p.Gly4620Asp) rs55857742 0.00111
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) rs184412722 0.00111
NM_001267550.2(TTN):c.8314G>A (p.Val2772Met) rs143035953 0.00111
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr) rs55663050 0.00110
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys) rs146496197 0.00110
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro) rs72648930 0.00109
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00108
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr) rs148617456 0.00108
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe) rs191484894 0.00108
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met) rs150661999 0.00107
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His) rs55669553 0.00106
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His) rs149855485 0.00106
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr) rs146181477 0.00106
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00104
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met) rs146627500 0.00104
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr) rs144668626 0.00104
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys) rs56264840 0.00104
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys) rs140743238 0.00104
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951 0.00104
NM_001267550.2(TTN):c.20630T>C (p.Ile6877Thr) rs142794598 0.00103
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly) rs150430592 0.00103
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu) rs138329459 0.00103
NM_000719.7(CACNA1C):c.5609C>T (p.Thr1870Met) rs201777030 0.00102
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val) rs56347248 0.00102
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His) rs146504767 0.00101
NM_001267550.2(TTN):c.26818G>A (p.Gly8940Ser) rs201005813 0.00101
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00100
NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala) rs150682764 0.00100
NM_000264.5(PTCH1):c.2173C>T (p.Pro725Ser) rs149258400 0.00098
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_004281.4(BAG3):c.1436C>T (p.Ala479Val) rs34656239 0.00097
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859 0.00096
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro) rs185683410 0.00096
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu) rs73973139 0.00096
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00095
NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp) rs121912706 0.00094
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243 0.00094
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_001105206.3(LAMA4):c.1475T>A (p.Leu492His) rs3752579 0.00093
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln) rs72650034 0.00093
NM_005751.5(AKAP9):c.8286A>C (p.Lys2762Asn) rs144875383 0.00093
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys) rs72648939 0.00092
NM_001267550.2(TTN):c.95582A>G (p.Tyr31861Cys) rs59148238 0.00092
NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu) rs142047577 0.00092
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln) rs150797476 0.00092
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240 0.00091
NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln) rs138842207 0.00090
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601 0.00089
NM_005751.5(AKAP9):c.10664A>T (p.Asp3555Val) rs139046510 0.00089
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187 0.00088
NM_002234.4(KCNA5):c.634C>T (p.Arg212Cys) rs77281462 0.00088
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) rs141213991 0.00087
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380 0.00086
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met) rs201437752 0.00086
NM_003073.5(SMARCB1):c.500+24C>G rs199737164 0.00086
NM_006206.6(PDGFRA):c.599C>G (p.Thr200Ser) rs149951350 0.00086
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463 0.00085
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141 0.00085
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807 0.00085
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val) rs72648989 0.00083
NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly) rs371719028 0.00083
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn) rs72648973 0.00082
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile) rs72649002 0.00082
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln) rs72648238 0.00082
NM_005751.5(AKAP9):c.5369T>G (p.Val1790Gly) rs151021935 0.00082
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00081
NM_001267550.2(TTN):c.13976A>G (p.Tyr4659Cys) rs34706803 0.00081
NM_000238.4(KCNH2):c.2398+178C>T rs41314366 0.00080
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro) rs138951890 0.00080
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile) rs56130023 0.00079
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn) rs144963736 0.00078
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr) rs149253719 0.00078
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) rs63750447 0.00077
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705 0.00077
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His) rs148169214 0.00077
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly) rs138753870 0.00076
NM_001267550.2(TTN):c.58226G>A (p.Arg19409His) rs201505306 0.00076
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys) rs142525903 0.00075
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00074
NM_133379.5(TTN):c.13859A>C (p.Gln4620Pro) rs139172299 0.00074
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227 0.00073
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala) rs56137800 0.00072
NM_000038.6(APC):c.1604C>T (p.Ser535Phe) rs75870842 0.00071
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu) rs1805125 0.00071
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr) rs45517203 0.00071
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279 0.00071
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) rs56399205 0.00071
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320 0.00071
NM_133379.5(TTN):c.11075G>C (p.Ser3692Thr) rs147314430 0.00071
NM_133379.5(TTN):c.16613G>A (p.Arg5538His) rs145932311 0.00071
NM_144997.7(FLCN):c.959G>A (p.Arg320Gln) rs143483053 0.00071
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile) rs201717871 0.00070
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr) rs72648263 0.00070
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp) rs138130914 0.00070
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His) rs72648206 0.00069
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys) rs145619906 0.00069
NM_005477.3(HCN4):c.3577G>C (p.Glu1193Gln) rs200507617 0.00068
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys) rs146868519 0.00067
NM_003098.3(SNTA1):c.440C>A (p.Thr147Asn) rs141724500 0.00067
NM_004100.5(EYA4):c.866C>T (p.Thr289Met) rs41286200 0.00067
NM_004415.4(DSP):c.782C>T (p.Ala261Val) rs139509870 0.00067
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275 0.00066
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421 0.00066
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe) rs201944202 0.00066
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237 0.00066
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg) rs200550947 0.00065
NM_005751.5(AKAP9):c.4342A>G (p.Ile1448Val) rs150379637 0.00065
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_001105206.3(LAMA4):c.3943G>A (p.Val1315Ile) rs70940811 0.00064
NM_006206.6(PDGFRA):c.1325T>C (p.Leu442Pro) rs139236922 0.00064
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu) rs141033098 0.00064
NM_201596.3(CACNB2):c.590C>T (p.Ser197Phe) rs150528041 0.00064
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636 0.00063
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316 0.00063
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793 0.00063
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) rs201412693 0.00063
NM_001267550.2(TTN):c.77716G>A (p.Glu25906Lys) rs56341835 0.00063
NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn) rs200450022 0.00063
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) rs74315448 0.00063
NM_201596.3(CACNB2):c.209G>A (p.Arg70His) rs150722502 0.00063
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114 0.00062
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala) rs200118743 0.00062
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526 0.00062
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684 0.00061
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg) rs190636272 0.00061
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys) rs149470241 0.00061
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505 0.00061
NM_005751.5(AKAP9):c.5246T>C (p.Ile1749Thr) rs150016098 0.00061
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335 0.00060
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp) rs142509759 0.00059
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004 0.00059
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile) rs72558029 0.00058
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753 0.00058
NM_001148.6(ANK2):c.6176C>T (p.Thr2059Met) rs200765866 0.00058
NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile) rs200103997 0.00058
NM_001267550.2(TTN):c.25481G>A (p.Arg8494Gln) rs201418615 0.00058
NM_032578.4(MYPN):c.1130G>A (p.Arg377Gln) rs147596628 0.00058
NM_144997.7(FLCN):c.871+47G>A rs142934950 0.00058
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584 0.00057
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540 0.00056
NM_020297.4(ABCC9):c.2238-1G>A rs141281214 0.00056
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262 0.00056
NM_133379.5(TTN):c.14078T>C (p.Ile4693Thr) rs139486133 0.00056
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637 0.00055
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys) rs72646859 0.00055
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser) rs34239595 0.00055
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val) rs148140756 0.00054
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855 0.00054
NM_001267550.2(TTN):c.83171T>G (p.Val27724Gly) rs201896662 0.00054
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409 0.00054
NM_003098.3(SNTA1):c.787G>T (p.Ala263Ser) rs150576530 0.00054
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_000245.4(MET):c.607T>A (p.Ser203Thr) rs200861145 0.00053
NM_133379.5(TTN):c.14812A>G (p.Met4938Val) rs145581345 0.00053
NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu) rs201035511 0.00052
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln) rs142877365 0.00052
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183 0.00051
NM_001105206.3(LAMA4):c.2398C>T (p.Arg800Cys) rs202184174 0.00051
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580 0.00051
NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly) rs56391938 0.00051
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) rs180975448 0.00051
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) rs146906267 0.00051
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_014000.3(VCL):c.2521G>C (p.Asp841His) rs150385900 0.00051
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) rs150195368 0.00050
NM_001148.6(ANK2):c.6228G>T (p.Lys2076Asn) rs144848998 0.00050
NM_001037.5(SCN1B):c.448+112G>A rs72558026 0.00049
NM_001267550.2(TTN):c.57808G>C (p.Val19270Leu) rs369440319 0.00049
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu) rs45487699 0.00049
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744 0.00048
NM_000179.3(MSH6):c.2667G>T (p.Gln889His) rs149945495 0.00048
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127 0.00048
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706 0.00048
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr) rs72648259 0.00048
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln) rs140714512 0.00047
NM_001386795.1(DTNA):c.955A>G (p.Met319Val) rs141981161 0.00047
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999 0.00046
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met) rs186906598 0.00045
NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe) rs201523784 0.00045
NM_001267550.2(TTN):c.71369G>A (p.Arg23790His) rs55677134 0.00045
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val) rs201348580 0.00045
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser) rs140170914 0.00045
NM_133379.5(TTN):c.12979A>G (p.Ile4327Val) rs144226338 0.00045
NM_201596.3(CACNB2):c.1776C>A (p.Asp592Glu) rs144182966 0.00045
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu) rs79777494 0.00044
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp) rs75321043 0.00044
NM_001105206.3(LAMA4):c.641G>A (p.Arg214His) rs139146419 0.00044
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys) rs192152102 0.00044
NM_024426.6(WT1):c.1063T>C (p.Cys355Arg) rs142059681 0.00044
NM_033118.4(MYLK2):c.834T>A (p.Asn278Lys) rs41293104 0.00044
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp) rs143464326 0.00043
NM_001267550.2(TTN):c.13969A>C (p.Asn4657His) rs200204761 0.00043
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) rs201257644 0.00043
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr) rs201394117 0.00042
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr) rs189951108 0.00042
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val) rs188185141 0.00042
NM_133379.5(TTN):c.14806A>T (p.Thr4936Ser) rs72648909 0.00042
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536 0.00041
NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys) rs200144345 0.00041
NM_001267550.2(TTN):c.93367G>C (p.Val31123Leu) rs202096200 0.00041
NM_003098.3(SNTA1):c.784A>C (p.Thr262Pro) rs200316080 0.00041
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121 0.00041
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672 0.00041
NM_000321.3(RB1):c.411A>T (p.Glu137Asp) rs3092902 0.00040
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His) rs201080904 0.00040
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe) rs17224367 0.00039
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser) rs144536197 0.00039
NM_001267550.2(TTN):c.10163G>A (p.Arg3388Gln) rs187703540 0.00039
NM_001267550.2(TTN):c.53122A>G (p.Lys17708Glu) rs185913848 0.00039
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser) rs148174226 0.00039
NM_001032283.3(TMPO):c.565+1105C>T rs138790561 0.00038
NM_001035.3(RYR2):c.10381A>G (p.Met3461Val) rs147512481 0.00038
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys) rs200092869 0.00038
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro) rs199681901 0.00038
NM_004281.4(BAG3):c.821C>T (p.Ser274Leu) rs143919208 0.00038
NM_004415.4(DSP):c.688G>A (p.Asp230Asn) rs147315869 0.00038
NM_000540.3(RYR1):c.12553G>A (p.Ala4185Thr) rs151119428 0.00037
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr) rs72648940 0.00037
NM_001267550.2(TTN):c.76987G>A (p.Asp25663Asn) rs143186270 0.00037
NM_001267550.2(TTN):c.98500G>A (p.Glu32834Lys) rs199761901 0.00037
NM_001386795.1(DTNA):c.1480G>A (p.Asp494Asn) rs144880521 0.00037
NM_004100.5(EYA4):c.979G>A (p.Asp327Asn) rs144415484 0.00037
NM_014391.3(ANKRD1):c.313C>T (p.Pro105Ser) rs148189486 0.00037
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878 0.00036
NM_000264.5(PTCH1):c.2479A>G (p.Ser827Gly) rs199476092 0.00036
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln) rs56023271 0.00036
NM_001267550.2(TTN):c.9488G>A (p.Arg3163His) rs149755500 0.00036
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp) rs117671123 0.00036
NM_020975.6(RET):c.200G>A (p.Arg67His) rs192489011 0.00036
NM_024422.6(DSC2):c.1914G>C (p.Gln638His) rs147742157 0.00036
NM_133379.5(TTN):c.10646G>A (p.Arg3549His) rs148115514 0.00036
NM_000222.3(KIT):c.821C>T (p.Thr274Met) rs138585275 0.00035
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr) rs200001206 0.00035
NM_005751.5(AKAP9):c.3580G>A (p.Ala1194Thr) rs139965373 0.00035
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417 0.00034
NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly) rs199512049 0.00034
NM_001386795.1(DTNA):c.2039G>A (p.Arg680Gln) rs138143719 0.00034
NM_006206.6(PDGFRA):c.1285G>A (p.Gly429Arg) rs150577828 0.00034
NM_015141.4(GPD1L):c.520G>A (p.Glu174Lys) rs112122950 0.00034
NM_133379.5(TTN):c.15575G>A (p.Arg5192Lys) rs62179016 0.00034
NM_000179.3(MSH6):c.1867C>G (p.Pro623Ala) rs3136334 0.00033
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn) rs118203493 0.00033
NM_000540.3(RYR1):c.1453A>G (p.Met485Val) rs147723844 0.00033
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly) rs201057307 0.00033
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451 0.00033
NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser) rs369941201 0.00032
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp) rs150036969 0.00032
NM_000540.3(RYR1):c.5317C>T (p.Pro1773Ser) rs192863857 0.00031
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met) rs45517294 0.00031
NM_174934.4(SCN4B):c.607G>A (p.Val203Met) rs150312046 0.00031
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452 0.00030
NM_001267550.2(TTN):c.88733G>A (p.Arg29578His) rs374147064 0.00030
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036 0.00029
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386 0.00029
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525 0.00029
NM_001040151.2(SCN3B):c.328G>A (p.Val110Ile) rs147205617 0.00029
NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr) rs200237973 0.00029
NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr) rs201804005 0.00029
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032 0.00029
NM_002471.4(MYH6):c.831G>T (p.Gln277His) rs140660481 0.00029
NM_133379.5(TTN):c.13123G>T (p.Ala4375Ser) rs72647902 0.00029
NM_144997.7(FLCN):c.268G>T (p.Ala90Ser) rs141140415 0.00029
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875 0.00028
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile) rs202160275 0.00028
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala) rs200689750 0.00028
NM_001386795.1(DTNA):c.2108G>A (p.Arg703Gln) rs142009291 0.00028
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr) rs142822590 0.00028
NM_017841.4(SDHAF2):c.97C>T (p.Arg33Cys) rs144867876 0.00028
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299 0.00027
NM_002471.4(MYH6):c.3199A>G (p.Ser1067Gly) rs145508517 0.00027
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu) rs28897688 0.00027
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235 0.00026
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp) rs138498207 0.00026
NM_001103.4(ACTN2):c.2161C>A (p.Arg721Ser) rs149433837 0.00026
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys) rs199557654 0.00026
NM_001267550.2(TTN):c.3605T>C (p.Val1202Ala) rs150667217 0.00026
NM_001267550.2(TTN):c.55354T>C (p.Ser18452Pro) rs372541479 0.00026
NM_001267550.2(TTN):c.92042C>A (p.Ala30681Asp) rs201400267 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_001103.4(ACTN2):c.1235C>T (p.Thr412Met) rs139515659 0.00025
NM_001267550.2(TTN):c.19547A>T (p.Lys6516Met) rs199796249 0.00025
NM_004329.3(BMPR1A):c.1433G>A (p.Arg478His) rs113849804 0.00025
NM_005751.5(AKAP9):c.7488T>G (p.Asn2496Lys) rs201977551 0.00025
NM_014000.3(VCL):c.1294C>G (p.Leu432Val) rs144146254 0.00025
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val) rs201845641 0.00025
NM_133379.5(TTN):c.11283G>C (p.Lys3761Asn) rs200816462 0.00025
NM_133379.5(TTN):c.12716C>T (p.Ala4239Val) rs72647901 0.00025
NM_174934.4(SCN4B):c.194A>T (p.His65Leu) rs112363898 0.00025
NM_000219.6(KCNE1):c.206A>G (p.Lys69Arg) rs149338401 0.00024
NM_000245.4(MET):c.967A>G (p.Ser323Gly) rs201467281 0.00024
NM_005751.5(AKAP9):c.971T>C (p.Ile324Thr) rs367857951 0.00024
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943 0.00024
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His) rs116911972 0.00024
NM_024422.6(DSC2):c.857G>T (p.Gly286Val) rs199682735 0.00024
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) rs199632397 0.00023
NM_001267550.2(TTN):c.6584A>G (p.Glu2195Gly) rs202032875 0.00023
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185 0.00023
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935 0.00022
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_000077.5(CDKN2A):c.373G>C (p.Asp125His) rs146179135 0.00022
NM_000238.4(KCNH2):c.2398+16C>T rs201873431 0.00022
NM_000238.4(KCNH2):c.2941A>G (p.Ser981Gly) rs76649554 0.00022
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375 0.00022
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288 0.00022
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201 0.00022
NM_000548.5(TSC2):c.3770C>T (p.Ala1257Val) rs45466493 0.00022
NM_001005242.3(PKP2):c.302G>A (p.Arg101His) rs149542398 0.00022
NM_001267550.2(TTN):c.107230A>G (p.Ile35744Val) rs142336788 0.00022
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp) rs140493115 0.00021
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00021
NM_000719.7(CACNA1C):c.3946-12G>A rs41276706 0.00021
NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn) rs201263441 0.00021
NM_032578.4(MYPN):c.952G>A (p.Val318Ile) rs112518450 0.00021
NM_170707.4(LMNA):c.1017G>A (p.Ala339=) rs17847242 0.00021
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 0.00020
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn) rs376736293 0.00020
NM_000540.3(RYR1):c.2822C>T (p.Ala941Val) rs748568687 0.00020
NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp) rs200726948 0.00020
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His) rs202149931 0.00020
NM_133379.5(TTN):c.14327T>C (p.Leu4776Ser) rs142132973 0.00020
NM_000038.6(APC):c.3249T>G (p.Asp1083Glu) rs201629780 0.00019
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00019
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000337.6(SGCD):c.699+18C>G rs180898690 0.00019
NM_000337.6(SGCD):c.848A>G (p.Gln283Arg) rs397516338 0.00019
NM_000368.5(TSC1):c.1460C>G (p.Ser487Cys) rs118203532 0.00019
NM_000540.3(RYR1):c.89A>T (p.Glu30Val) rs145771708 0.00019
NM_001105206.3(LAMA4):c.668G>A (p.Arg223His) rs200017155 0.00019
NM_001267550.2(TTN):c.105128G>A (p.Arg35043His) rs370137295 0.00019
NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile) rs377682563 0.00019
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys) rs200797552 0.00019
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) rs200503016 0.00019
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His) rs141258018 0.00019
NM_002234.4(KCNA5):c.898G>A (p.Gly300Ser) rs148708451 0.00019
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys) rs55650082 0.00019
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087 0.00019
NM_014000.3(VCL):c.590C>T (p.Thr197Ile) rs189242810 0.00019
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val) rs11571653 0.00018
NM_000143.4(FH):c.883G>A (p.Ala295Thr) rs145843819 0.00018
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235 0.00018
NM_000335.5(SCN5A):c.5901C>G (p.Ile1967Met) rs199473333 0.00018
NM_000447.3(PSEN2):c.166G>A (p.Gly56Ser) rs188598190 0.00018
NM_001267550.2(TTN):c.32953C>T (p.Arg10985Trp) rs201991864 0.00018
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala) rs200775919 0.00018
NM_002234.4(KCNA5):c.251A>C (p.Glu84Ala) rs377036305 0.00018
NM_144997.7(FLCN):c.1523A>G (p.Lys508Arg) rs199643834 0.00018
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys) rs201004111 0.00017
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499 0.00017
NM_001267550.2(TTN):c.101708G>A (p.Arg33903His) rs72629782 0.00017
NM_001267550.2(TTN):c.1709C>T (p.Ala570Val) rs146690035 0.00017
NM_001267550.2(TTN):c.77848C>T (p.Leu25950Phe) rs376814602 0.00017
NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn) rs200697681 0.00017
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342 0.00016
NM_000719.7(CACNA1C):c.6344G>C (p.Gly2115Ala) rs199694744 0.00016
NM_001035.3(RYR2):c.2711A>G (p.Tyr904Cys) rs201131315 0.00016
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897 0.00016
NM_001105206.3(LAMA4):c.3175G>A (p.Val1059Met) rs373650093 0.00016
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783 0.00016
NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser) rs201888760 0.00016
NM_001267550.2(TTN):c.54740T>C (p.Met18247Thr) rs200585270 0.00016
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln) rs200141081 0.00016
NM_001267550.2(TTN):c.9857A>G (p.Lys3286Arg) rs200052398 0.00016
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) rs199826380 0.00016
NM_004281.4(BAG3):c.653G>A (p.Arg218Gln) rs201638005 0.00016
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00016
NM_032578.4(MYPN):c.392G>T (p.Ser131Ile) rs199853307 0.00016
NM_000264.5(PTCH1):c.2485G>A (p.Val829Met) rs201125580 0.00015
NM_000540.3(RYR1):c.7902C>A (p.Asn2634Lys) rs148041292 0.00015
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392 0.00015
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu) rs148736217 0.00015
NM_001267550.2(TTN):c.14869A>C (p.Thr4957Pro) rs780405420 0.00015
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser) rs200355367 0.00015
NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu) rs200132226 0.00015
NM_006206.6(PDGFRA):c.2291G>A (p.Arg764His) rs141047712 0.00015
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser) rs201118107 0.00014
NM_000264.5(PTCH1):c.2678G>A (p.Arg893His) rs138154222 0.00014
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_001005242.3(PKP2):c.1379-2066C>T rs373399921 0.00014
NM_001148.6(ANK2):c.2110C>G (p.Gln704Glu) rs139197937 0.00014
NM_001148.6(ANK2):c.6854T>C (p.Ile2285Thr) rs150684838 0.00014
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg) rs367826445 0.00014
NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys) rs200902055 0.00014
NM_001267550.2(TTN):c.47936C>T (p.Pro15979Leu) rs184815126 0.00014
NM_001267550.2(TTN):c.9707C>T (p.Pro3236Leu) rs146199720 0.00014
NM_004100.5(EYA4):c.1418G>T (p.Gly473Val) rs146977269 0.00014
NM_005751.5(AKAP9):c.11714T>C (p.Met3905Thr) rs77447750 0.00014
NM_005751.5(AKAP9):c.4190A>G (p.Gln1397Arg) rs139612565 0.00014
NM_201596.3(CACNB2):c.1696G>A (p.Ala566Thr) rs202218948 0.00014
NM_000222.3(KIT):c.2263G>A (p.Ala755Thr) rs201165084 0.00013
NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys) rs202145681 0.00013
NM_000256.3(MYBPC3):c.3326C>T (p.Thr1109Ile) rs397516016 0.00013
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys) rs193922624 0.00013
NM_001103.4(ACTN2):c.1040C>T (p.Thr347Met) rs727504590 0.00013
NM_001105206.3(LAMA4):c.1277T>C (p.Met426Thr) rs200112094 0.00013
NM_001148.6(ANK2):c.11119G>A (p.Asp3707Asn) rs199549660 0.00013
NM_001148.6(ANK2):c.7436A>G (p.Lys2479Arg) rs201619005 0.00013
NM_001267550.2(TTN):c.103912C>T (p.Arg34638Cys) rs374444254 0.00013
NM_001267550.2(TTN):c.16480G>A (p.Gly5494Arg) rs727504697 0.00013
NM_001267550.2(TTN):c.82810G>A (p.Gly27604Ser) rs199929362 0.00013
NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile) rs201687390 0.00013
NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser) rs72648240 0.00013
NM_002471.4(MYH6):c.1252G>A (p.Val418Met) rs147606900 0.00013
NM_024422.6(DSC2):c.734A>C (p.Glu245Ala) rs373201722 0.00013
NM_000038.6(APC):c.1631T>C (p.Ile544Thr) rs144056494 0.00012
NM_000038.6(APC):c.2204C>T (p.Ala735Val) rs147655929 0.00012
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp) rs200794097 0.00012
NM_000038.6(APC):c.6873A>T (p.Gln2291His) rs148878262 0.00012
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479 0.00012
NM_000368.5(TSC1):c.1001C>T (p.Ser334Leu) rs118203481 0.00012
NM_000719.7(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105 0.00012
NM_001267550.2(TTN):c.55655G>A (p.Arg18552His) rs201774108 0.00012
NM_001267550.2(TTN):c.57242T>C (p.Ile19081Thr) rs78509062 0.00012
NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln) rs370890454 0.00012
NM_001267550.2(TTN):c.82688G>A (p.Arg27563His) rs118079537 0.00012
NM_001267550.2(TTN):c.85651C>A (p.Pro28551Thr) rs142478636 0.00012
NM_002471.4(MYH6):c.115G>A (p.Val39Met) rs142850511 0.00012
NM_003000.3(SDHB):c.403G>A (p.Val135Met) rs201585157 0.00012
NM_004100.5(EYA4):c.1739-64G>A rs143208937 0.00012
NM_007294.4(BRCA1):c.1233T>G (p.Asp411Glu) rs80357024 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_032578.4(MYPN):c.3934C>T (p.Arg1312Trp) rs142354704 0.00012
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr) rs199552354 0.00011
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln) rs199755731 0.00011
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_000548.5(TSC2):c.3827C>T (p.Ser1276Phe) rs45478595 0.00011
NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr) rs201112096 0.00011
NM_001267550.2(TTN):c.28681G>A (p.Ala9561Thr) rs373380202 0.00011
NM_001267550.2(TTN):c.45247C>T (p.Arg15083Trp) rs199834143 0.00011
NM_001267550.2(TTN):c.48353A>G (p.Asp16118Gly) rs376273101 0.00011
NM_001267550.2(TTN):c.59248G>A (p.Gly19750Ser) rs200732032 0.00011
NM_001267550.2(TTN):c.65746C>T (p.Arg21916Trp) rs200155485 0.00011
NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys) rs374492812 0.00011
NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val) rs201095164 0.00011
NM_001267550.2(TTN):c.80553C>T (p.Phe26851=) rs189790119 0.00011
NM_002230.4(JUP):c.352G>A (p.Glu118Lys) rs149004293 0.00011
NM_004415.4(DSP):c.3646A>G (p.Ile1216Val) rs199795359 0.00011
NM_005477.3(HCN4):c.584C>T (p.Ala195Val) rs201375192 0.00011
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280 0.00011
NM_024422.6(DSC2):c.1070G>A (p.Arg357His) rs201201194 0.00011
NM_000038.6(APC):c.388A>G (p.Ser130Gly) rs150973053 0.00010
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr) rs63751225 0.00010
NM_000264.5(PTCH1):c.4027G>A (p.Gly1343Arg) rs200100952 0.00010
NM_000540.3(RYR1):c.11599C>T (p.Arg3867Cys) rs138593495 0.00010
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser) rs201944276 0.00010
NM_001148.6(ANK2):c.962G>A (p.Arg321Gln) rs150226540 0.00010
NM_001267550.2(TTN):c.15086G>A (p.Arg5029Gln) rs200792058 0.00010
NM_001267550.2(TTN):c.266C>G (p.Ala89Gly) rs200165636 0.00010
NM_001267550.2(TTN):c.43G>A (p.Val15Ile) rs201857541 0.00010
NM_001267550.2(TTN):c.63917G>A (p.Arg21306His) rs202240487 0.00010
NM_001267550.2(TTN):c.6927T>A (p.Asn2309Lys) rs147580120 0.00010
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln) rs200639218 0.00010
NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg) rs200854704 0.00010
NM_001267550.2(TTN):c.91732G>A (p.Val30578Ile) rs727504672 0.00010
NM_002230.4(JUP):c.926A>G (p.Asn309Ser) rs140606359 0.00010
NM_006206.6(PDGFRA):c.1099G>A (p.Val367Met) rs147982027 0.00010
NM_024334.3(TMEM43):c.169G>A (p.Ala57Thr) rs151010429 0.00010
NM_024422.6(DSC2):c.2314G>A (p.Val772Met) rs146029947 0.00010
NM_133379.5(TTN):c.16001C>T (p.Pro5334Leu) rs151253841 0.00010
NM_174934.4(SCN4B):c.617C>T (p.Ser206Leu) rs140348243 0.00010
NM_000059.4(BRCA2):c.6338A>G (p.Asn2113Ser) rs80358874 0.00009
NM_000218.3(KCNQ1):c.328G>A (p.Val110Ile) rs199472677 0.00009
NM_000222.3(KIT):c.1694G>T (p.Gly565Val) rs200945282 0.00009
NM_000245.4(MET):c.110T>C (p.Val37Ala) rs201315884 0.00009
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg) rs63750876 0.00009
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) rs200939753 0.00009
NM_000321.3(RB1):c.628G>T (p.Asp210Tyr) rs148992508 0.00009
NM_001103.4(ACTN2):c.2659G>A (p.Ala887Thr) rs148972050 0.00009
NM_001148.6(ANK2):c.2060A>G (p.Asn687Ser) rs29372 0.00009
NM_001267550.2(TTN):c.102428T>C (p.Met34143Thr) rs397517786 0.00009
NM_001267550.2(TTN):c.1585G>A (p.Ala529Thr) rs143030869 0.00009
NM_001267550.2(TTN):c.84965G>A (p.Arg28322His) rs373532064 0.00009
NM_001267550.2(TTN):c.88285A>G (p.Ile29429Val) rs373738818 0.00009
NM_001267550.2(TTN):c.92009T>C (p.Ile30670Thr) rs369342933 0.00009
NM_002230.4(JUP):c.1862T>C (p.Ile621Thr) rs752594411 0.00009
NM_032578.4(MYPN):c.2260A>C (p.Ile754Leu) rs201245117 0.00009
NM_174934.4(SCN4B):c.22G>A (p.Gly8Ser) rs149868494 0.00009
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478 0.00008
NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln) rs138362632 0.00008
NM_000249.4(MLH1):c.1742C>T (p.Pro581Leu) rs63751684 0.00008
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr) rs63750466 0.00008
NM_000368.5(TSC1):c.851G>A (p.Arg284His) rs151309813 0.00008
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe) rs201824349 0.00008
NM_001267550.2(TTN):c.105416C>T (p.Thr35139Ile) rs200782068 0.00008
NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr) rs532102837 0.00008
NM_001267550.2(TTN):c.42839A>G (p.Asp14280Gly) rs181902304 0.00008
NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg) rs772677752 0.00008
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile) rs200476500 0.00008
NM_002471.4(MYH6):c.2591C>T (p.Thr864Met) rs200153625 0.00008
NM_007078.3(LDB3):c.715G>A (p.Val239Ile) rs201417512 0.00008
NM_020975.6(RET):c.2611G>A (p.Val871Ile) rs145170911 0.00008
NM_133379.5(TTN):c.11809A>C (p.Lys3937Gln) rs562658562 0.00008
NM_133379.5(TTN):c.13799A>C (p.Glu4600Ala) rs200760091 0.00008
NM_000038.6(APC):c.7717A>G (p.Ile2573Val) rs145444830 0.00007
NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn) rs147445322 0.00007
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met) rs144917638 0.00007
NM_000540.3(RYR1):c.6670C>T (p.Arg2224Cys) rs199870223 0.00007
NM_000719.7(CACNA1C):c.6388G>A (p.Asp2130Asn) rs199473392 0.00007
NM_001267550.2(TTN):c.11996A>G (p.Asn3999Ser) rs199844346 0.00007
NM_001267550.2(TTN):c.27193T>C (p.Cys9065Arg) rs201229221 0.00007
NM_001267550.2(TTN):c.70042G>A (p.Ala23348Thr) rs775146212 0.00007
NM_001267550.2(TTN):c.70172T>C (p.Ile23391Thr) rs375202101 0.00007
NM_002230.4(JUP):c.526C>T (p.Arg176Trp) rs368336007 0.00007
NM_002471.4(MYH6):c.3988G>A (p.Ala1330Thr) rs757840030 0.00007
NM_020975.6(RET):c.1942G>A (p.Val648Ile) rs77711105 0.00007
NM_000038.6(APC):c.7888G>A (p.Val2630Ile) rs199688874 0.00006
NM_000059.4(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940 0.00006
NM_000238.4(KCNH2):c.2674C>T (p.Arg892Cys) rs201627778 0.00006
NM_000251.3(MSH2):c.944G>T (p.Gly315Val) rs202026056 0.00006
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu) rs118203553 0.00006
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys) rs150993059 0.00006
NM_000548.5(TSC2):c.5368G>A (p.Val1790Met) rs200140994 0.00006
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val) rs143900944 0.00006
NM_001148.6(ANK2):c.9916G>A (p.Val3306Ile) rs200922244 0.00006
NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln) rs149391616 0.00006
NM_001267550.2(TTN):c.103636C>T (p.Arg34546Cys) rs777626473 0.00006
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln) rs199531140 0.00006
NM_001267550.2(TTN):c.12821G>A (p.Ser4274Asn) rs200348414 0.00006
NM_001267550.2(TTN):c.17302G>A (p.Asp5768Asn) rs576904726 0.00006
NM_001267550.2(TTN):c.39050A>G (p.Glu13017Gly) rs368056479 0.00006
NM_001267550.2(TTN):c.44978G>A (p.Gly14993Glu) rs200931793 0.00006
NM_001267550.2(TTN):c.48595T>C (p.Ser16199Pro) rs752629624 0.00006
NM_001267550.2(TTN):c.49367G>A (p.Arg16456His) rs768914789 0.00006
NM_001267550.2(TTN):c.63877G>A (p.Asp21293Asn) rs199505416 0.00006
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met) rs201284459 0.00006
NM_001267550.2(TTN):c.74504A>G (p.Tyr24835Cys) rs201724962 0.00006
NM_001267550.2(TTN):c.80944T>C (p.Phe26982Leu) rs200406978 0.00006
NM_001267550.2(TTN):c.94016C>T (p.Thr31339Ile) rs184078016 0.00006
NM_001267550.2(TTN):c.95078C>A (p.Ala31693Asp) rs2288326 0.00006
NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser) rs202011992 0.00006
NM_001267550.2(TTN):c.97331G>C (p.Arg32444Pro) rs184922462 0.00006
NM_001368067.1(LDB3):c.415G>A (p.Glu139Lys) rs374613600 0.00006
NM_006206.6(PDGFRA):c.896T>C (p.Val299Ala) rs200033396 0.00006
NM_014000.3(VCL):c.404T>C (p.Ile135Thr) rs373744314 0.00006
NM_133379.5(TTN):c.12226G>A (p.Glu4076Lys) rs144690298 0.00006
NM_133379.5(TTN):c.15227C>T (p.Pro5076Leu) rs201137248 0.00006
NM_000038.6(APC):c.2438A>G (p.Asn813Ser) rs201522866 0.00005
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser) rs143796828 0.00005
NM_000059.4(BRCA2):c.5552T>G (p.Ile1851Ser) rs80358776 0.00005
NM_000368.5(TSC1):c.2696C>G (p.Thr899Ser) rs76801599 0.00005
NM_000447.3(PSEN2):c.208G>A (p.Gly70Arg) rs139972151 0.00005
NM_000548.5(TSC2):c.1340C>T (p.Ala447Val) rs45486591 0.00005
NM_000548.5(TSC2):c.4225C>T (p.Arg1409Trp) rs45517333 0.00005
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val) rs199571473 0.00005
NM_001035.3(RYR2):c.10699C>T (p.Arg3567Cys) rs559154874 0.00005
NM_001148.6(ANK2):c.1177G>A (p.Ala393Thr) rs147458476 0.00005
NM_001267550.2(TTN):c.39941C>A (p.Thr13314Asn) rs543338451 0.00005
NM_001267550.2(TTN):c.4153G>A (p.Ala1385Thr) rs140760859 0.00005
NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln) rs373062007 0.00005
NM_001267550.2(TTN):c.67322A>G (p.Glu22441Gly) rs201223583 0.00005
NM_001267550.2(TTN):c.8788G>A (p.Val2930Ile) rs56373393 0.00005
NM_001368067.1(LDB3):c.346G>A (p.Ala116Thr) rs200458194 0.00005
NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu) rs201826850 0.00005
NM_007078.3(LDB3):c.793C>T (p.Arg265Cys) rs45521338 0.00005
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys) rs193922708 0.00005
NM_032578.4(MYPN):c.1858A>G (p.Thr620Ala) rs144031245 0.00005
NM_133379.5(TTN):c.14015C>T (p.Ala4672Val) rs551658963 0.00005
NM_000038.6(APC):c.2297C>T (p.Ala766Val) rs200339830 0.00004
NM_000038.6(APC):c.317G>A (p.Arg106His) rs201764637 0.00004
NM_000143.4(FH):c.1421C>G (p.Thr474Arg) rs369802820 0.00004
NM_000143.4(FH):c.346A>T (p.Ile116Phe) rs201532589 0.00004
NM_000222.3(KIT):c.839C>T (p.Ala280Val) rs386833402 0.00004
NM_000238.4(KCNH2):c.2398+156G>A rs139247073 0.00004
NM_000245.4(MET):c.1019A>G (p.Asp340Gly) rs200690492 0.00004
NM_000540.3(RYR1):c.11557G>A (p.Glu3853Lys) rs145087576 0.00004
NM_000540.3(RYR1):c.8305G>A (p.Asp2769Asn) rs566495420 0.00004
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr) rs141438322 0.00004
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val) rs200318013 0.00004
NM_001048174.2(MUTYH):c.1336C>T (p.Arg446Cys) rs200229669 0.00004
NM_001103.4(ACTN2):c.2552G>A (p.Arg851His) rs201335965 0.00004
NM_001267550.2(TTN):c.102275G>A (p.Arg34092His) rs757918924 0.00004
NM_001267550.2(TTN):c.102827G>A (p.Arg34276Gln) rs199932621 0.00004
NM_001267550.2(TTN):c.14189G>A (p.Arg4730Gln) rs202017278 0.00004
NM_001267550.2(TTN):c.2358C>G (p.His786Gln) rs199507913 0.00004
NM_001267550.2(TTN):c.24107C>T (p.Ser8036Leu) rs200598509 0.00004
NM_001267550.2(TTN):c.39235G>A (p.Val13079Ile) rs777119867 0.00004
NM_001267550.2(TTN):c.47089C>T (p.Arg15697Cys) rs780334981 0.00004
NM_001267550.2(TTN):c.5264A>G (p.Asn1755Ser) rs201904897 0.00004
NM_001267550.2(TTN):c.56686G>A (p.Val18896Met) rs370629962 0.00004
NM_001267550.2(TTN):c.7619G>A (p.Arg2540His) rs397517725 0.00004
NM_001267550.2(TTN):c.80905G>A (p.Val26969Ile) rs377667066 0.00004
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser) rs367979582 0.00004
NM_001370259.2(MEN1):c.774G>C (p.Gln258His) rs374659656 0.00004
NM_001943.5(DSG2):c.1063G>A (p.Ala355Thr) rs201046640 0.00004
NM_005751.5(AKAP9):c.5543C>G (p.Ser1848Cys) rs189083857 0.00004
NM_006206.6(PDGFRA):c.1700C>T (p.Pro567Leu) rs201503614 0.00004
NM_006206.6(PDGFRA):c.2897A>G (p.His966Arg) rs200042995 0.00004
NM_007294.4(BRCA1):c.425C>A (p.Pro142His) rs55971303 0.00004
NM_017841.4(SDHAF2):c.52A>G (p.Arg18Gly) rs200911550 0.00004
NM_024334.3(TMEM43):c.121A>G (p.Met41Val) rs144334386 0.00004
NM_024334.3(TMEM43):c.206C>T (p.Ser69Leu) rs369779779 0.00004
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg) rs139290300 0.00004
NM_133379.5(TTN):c.14526T>A (p.Asn4842Lys) rs776361113 0.00004
NM_000038.6(APC):c.1495C>G (p.Arg499Gly) rs137854580 0.00003
NM_000038.6(APC):c.379A>G (p.Ser127Gly) rs200089324 0.00003
NM_000038.6(APC):c.7415C>T (p.Ala2472Val) rs200399245 0.00003
NM_000059.4(BRCA2):c.1564G>C (p.Gly522Arg) rs80358442 0.00003
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721 0.00003
NM_000059.4(BRCA2):c.8917C>T (p.Arg2973Cys) rs45469092 0.00003
NM_000245.4(MET):c.3356G>C (p.Gly1119Ala) rs201037977 0.00003
NM_000264.5(PTCH1):c.3247G>A (p.Val1083Met) rs202052415 0.00003
NM_000264.5(PTCH1):c.3890G>A (p.Arg1297Gln) rs386833412 0.00003
NM_000264.5(PTCH1):c.4171C>T (p.Arg1391Trp) rs45535032 0.00003
NM_000368.5(TSC1):c.3428C>T (p.Pro1143Leu) rs201867031 0.00003
NM_000540.3(RYR1):c.1099C>T (p.Arg367Trp) rs140037232 0.00003
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954 0.00003
NM_001148.6(ANK2):c.11594A>G (p.Asp3865Gly) rs140606121 0.00003
NM_001267550.2(TTN):c.28262C>T (p.Thr9421Met) rs375209383 0.00003
NM_001267550.2(TTN):c.34391A>G (p.Lys11464Arg) rs786205396 0.00003
NM_001267550.2(TTN):c.6668A>T (p.His2223Leu) rs372979075 0.00003
NM_001386795.1(DTNA):c.1838C>T (p.Pro613Leu) rs145425478 0.00003
NM_001943.5(DSG2):c.1303G>A (p.Asp435Asn) rs370509593 0.00003
NM_004329.3(BMPR1A):c.1596C>G (p.Ile532Met) rs201345248 0.00003
NM_004360.5(CDH1):c.671G>A (p.Arg224His) rs201511530 0.00003
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu) rs186842903 0.00003
NM_005751.5(AKAP9):c.1685A>G (p.His562Arg) rs145033147 0.00003
NM_005751.5(AKAP9):c.9830T>C (p.Ile3277Thr) rs144021475 0.00003
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val) rs372331627 0.00003
NM_007294.4(BRCA1):c.4096+30C>T rs369055904 0.00003
NM_144997.7(FLCN):c.586A>G (p.Ile196Val) rs201078144 0.00003
NM_000038.6(APC):c.5225G>A (p.Arg1742His) rs199775075 0.00002
NM_000059.4(BRCA2):c.4779A>C (p.Glu1593Asp) rs80358703 0.00002
NM_000059.4(BRCA2):c.8687G>A (p.Arg2896His) rs80359128 0.00002
NM_000257.4(MYH7):c.350A>T (p.Tyr117Phe) rs201012865 0.00002
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr) rs386833410 0.00002
NM_000719.7(CACNA1C):c.5329C>T (p.Arg1777Cys) rs775251529 0.00002
NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr) rs200572531 0.00002
NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys) rs200495564 0.00002
NM_001267550.2(TTN):c.19995A>T (p.Glu6665Asp) rs146828735 0.00002
NM_001267550.2(TTN):c.61825C>T (p.Arg20609Cys) rs786205389 0.00002
NM_001267550.2(TTN):c.67444C>T (p.Arg22482Trp) rs563233842 0.00002
NM_001267550.2(TTN):c.7057+2dup rs765019023 0.00002
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met) rs377506142 0.00002
NM_001943.5(DSG2):c.86T>C (p.Leu29Ser) rs786205361 0.00002
NM_002230.4(JUP):c.1324A>T (p.Ile442Phe) rs142213474 0.00002
NM_007294.4(BRCA1):c.2783G>A (p.Gly928Asp) rs202004680 0.00002
NM_024334.3(TMEM43):c.323T>C (p.Val108Ala) rs182351748 0.00002
NM_000038.6(APC):c.2677G>A (p.Glu893Lys) rs199740875 0.00001
NM_000038.6(APC):c.695G>A (p.Arg232Gln) rs201727026 0.00001
NM_000038.6(APC):c.7766A>G (p.Glu2589Gly) rs200406572 0.00001
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala) rs80358393 0.00001
NM_000059.4(BRCA2):c.3562A>G (p.Ile1188Val) rs202230438 0.00001
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln) rs11571640 0.00001
NM_000143.4(FH):c.908T>C (p.Leu303Ser) rs201502246 0.00001
NM_000218.3(KCNQ1):c.521G>A (p.Arg174His) rs199472697 0.00001
NM_000256.3(MYBPC3):c.1070G>A (p.Arg357His) rs199741162 0.00001
NM_000257.4(MYH7):c.1301G>A (p.Arg434Lys) rs786205356 0.00001
NM_000257.4(MYH7):c.2536G>C (p.Glu846Gln) rs730880748 0.00001
NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter) rs1064794577 0.00001
NM_000535.7(PMS2):c.733C>A (p.Leu245Met) rs201375580 0.00001
NM_000540.3(RYR1):c.11731A>G (p.Thr3911Ala) rs200622493 0.00001
NM_000540.3(RYR1):c.3431C>T (p.Pro1144Leu) rs201940876 0.00001
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781 0.00001
NM_000540.3(RYR1):c.6700C>T (p.Arg2234Cys) rs201465595 0.00001
NM_000548.5(TSC2):c.4046C>T (p.Ala1349Val) rs201979616 0.00001
NM_001148.6(ANK2):c.7532G>A (p.Arg2511Gln) rs142684331 0.00001
NM_001148.6(ANK2):c.8447G>A (p.Gly2816Asp) rs199538455 0.00001
NM_001267550.2(TTN):c.106343G>A (p.Arg35448Gln) rs369703073 0.00001
NM_001267550.2(TTN):c.15544G>A (p.Gly5182Arg) rs775552018 0.00001
NM_001267550.2(TTN):c.3616G>T (p.Ala1206Ser) rs200749662 0.00001
NM_001267550.2(TTN):c.4076A>G (p.Glu1359Gly) rs370978752 0.00001
NM_001267550.2(TTN):c.54874G>C (p.Gly18292Arg) rs377512675 0.00001
NM_001267550.2(TTN):c.67280G>A (p.Arg22427Gln) rs770566210 0.00001
NM_001267550.2(TTN):c.72803G>A (p.Arg24268His) rs140018785 0.00001
NM_001386795.1(DTNA):c.1695C>T (p.Ser565=) rs774966330 0.00001
NM_002230.4(JUP):c.335A>G (p.Asn112Ser) rs372364561 0.00001
NM_003000.3(SDHB):c.638T>C (p.Met213Thr) rs202014362 0.00001
NM_003002.4(SDHD):c.400T>G (p.Leu134Val) rs200851392 0.00001
NM_004360.5(CDH1):c.2077G>A (p.Gly693Ser) rs386833398 0.00001
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His) rs201397978 0.00001
NM_005477.3(HCN4):c.1459G>A (p.Val487Met) rs202037304 0.00001
NM_007078.3(LDB3):c.443G>A (p.Arg148Gln) rs751254270 0.00001
NM_007294.4(BRCA1):c.4520G>C (p.Arg1507Thr) rs80357470 0.00001
NM_007294.4(BRCA1):c.4903G>A (p.Glu1635Lys) rs200432771 0.00001
NM_020975.6(RET):c.2982A>C (p.Lys994Asn) rs199718928 0.00001
NM_024334.3(TMEM43):c.164G>A (p.Gly55Asp) rs201453637 0.00001
NM_133379.5(TTN):c.10733A>G (p.Tyr3578Cys) rs200420921 0.00001
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000038.6(APC):c.420G>C (p.Glu140Asp) rs202161017
NM_000038.6(APC):c.4375_4377del (p.Thr1459del) rs386833393
NM_000038.6(APC):c.53T>A (p.Met18Lys) rs200960071
NM_000059.4(BRCA2):c.1022G>T (p.Cys341Phe) rs80358403
NM_000059.4(BRCA2):c.50C>T (p.Thr17Ile) rs386833396
NM_000059.4(BRCA2):c.8941G>A (p.Glu2981Lys) rs139052578
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000179.3(MSH6):c.1618C>A (p.Leu540Ile) rs201996928
NM_000179.3(MSH6):c.3833C>G (p.Pro1278Arg) rs201191389
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs) rs397508104
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000245.4(MET):c.1306G>C (p.Glu436Gln) rs200740468
NM_000245.4(MET):c.2383A>G (p.Asn795Asp) rs200633053
NM_000249.4(MLH1):c.*32CTT[1] rs193922366
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000256.3(MYBPC3):c.2148+6_2148+9del rs397515949
NM_000256.3(MYBPC3):c.3229G>A (p.Ala1077Thr) rs397516009
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) rs574005462
NM_000257.4(MYH7):c.732+1G>A rs730880850
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000368.5(TSC1):c.3112AGC[7] (p.Ser1043dup) rs2234980
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.695G>A (p.Gly232Glu) rs201811667
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe) rs201395630
NM_000535.7(PMS2):c.858C>A (p.Asp286Glu) rs201921616
NM_000540.3(RYR1):c.11049GGA[4] (p.Glu3689del) rs760784102
NM_000540.3(RYR1):c.11958C>G (p.Asp3986Glu) rs193922842
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.14929G>C (p.Glu4977Gln) rs200777598
NM_000546.6(TP53):c.31G>C (p.Glu11Gln) rs201382018
NM_000548.5(TSC2):c.1458C>G (p.Asn486Lys) rs200532154
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.922C>G (p.Arg308Gly) rs201144475
NM_000719.7(CACNA1C):c.5408G>C (p.Arg1803Pro) rs201918158
NM_001005242.3(PKP2):c.2499C>A (p.His833Gln) rs202094467
NM_001035.3(RYR2):c.5653G>T (p.Gly1885Trp) rs200197527
NM_001042492.3(NF1):c.6782A>G (p.His2261Arg) rs201336602
NM_001042492.3(NF1):c.730+2T>G rs200962248
NM_001103.4(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001148.6(ANK2):c.4555G>T (p.Ala1519Ser) rs200920714
NM_001148.6(ANK2):c.7942G>C (p.Gly2648Arg) rs199828363
NM_001148.6(ANK2):c.8381A>G (p.Gln2794Arg) rs528909081
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del) rs397516641
NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys) rs201857158
NM_001267550.2(TTN):c.13701T>G (p.Asp4567Glu) rs200422152
NM_001267550.2(TTN):c.15178G>A (p.Val5060Ile) rs72648929
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_001267550.2(TTN):c.21378A>C (p.Glu7126Asp) rs786205315
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu) rs149523263
NM_001267550.2(TTN):c.29938G>A (p.Ala9980Thr) rs189286381
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) rs55914517
NM_001267550.2(TTN):c.3241G>T (p.Ala1081Ser) rs55914517
NM_001267550.2(TTN):c.33501AGA[4] (p.Glu11172del) rs368327166
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup) rs368327166
NM_001267550.2(TTN):c.36044C>G (p.Thr12015Arg) rs199868380
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg) rs72650066
NM_001267550.2(TTN):c.40222+2TA[10] rs10580462
NM_001267550.2(TTN):c.40222+2TA[12] rs10580462
NM_001267550.2(TTN):c.40222+2TA[9] rs10580462
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_001267550.2(TTN):c.5855A>G (p.His1952Arg) rs572691153
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu) rs72646843
NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys) rs56372592
NM_001267550.2(TTN):c.76739C>T (p.Thr25580Met) rs56372592
NM_001267550.2(TTN):c.79862C>A (p.Thr26621Lys) rs3731746
NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys) rs201489661
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys) rs55933739
NM_001267550.2(TTN):c.86683G>A (p.Val28895Met) rs201290358
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys) rs11887722
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His) rs55704830
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830
NM_001267550.2(TTN):c.98893G>C (p.Asp32965His) rs186405108
NM_001386795.1(DTNA):c.1766G>A (p.Arg589His) rs200246467
NM_002471.4(MYH6):c.1131C>G (p.Asp377Glu) rs61742472
NM_003491.4(NAA10):c.*39A>G rs1603289774
NM_003491.4(NAA10):c.*40A>G rs1342269961
NM_003491.4(NAA10):c.*43A>G rs1603289772
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del) rs397516862
NM_004281.4(BAG3):c.212G>A (p.Arg71Gln) rs35434411
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter) rs121909305
NM_005751.5(AKAP9):c.11229G>A (p.Met3743Ile) rs143306820
NM_005751.5(AKAP9):c.11230G>T (p.Gly3744Trp) rs200327385
NM_005751.5(AKAP9):c.7773A>C (p.Gln2591His) rs553800160
NM_005751.5(AKAP9):c.8894A>G (p.Tyr2965Cys) rs201958512
NM_007078.3(LDB3):c.1325C>T (p.Ala442Val) rs786205349
NM_007294.4(BRCA1):c.1849A>G (p.Thr617Ala) rs45564238
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.3962C>G (p.Ser1321Cys) rs386833394
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_014000.3(VCL):c.1157A>G (p.Lys386Arg) rs200342284
NM_014000.3(VCL):c.1225C>T (p.Arg409Ter) rs202005455
NM_024422.6(DSC2):c.1707C>A (p.Asp569Glu) rs201517977
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp) rs149887823
NM_032578.4(MYPN):c.662A>T (p.Asp221Val) rs185841477
NM_133378.4(TTN):c.37385_37387delAAG rs759525338
NM_174934.4(SCN4B):c.112G>C (p.Ala38Pro) rs777894412
NM_201596.3(CACNB2):c.1206+4_1206+7dup rs1456201116
NM_201596.3(CACNB2):c.1816C>T (p.Arg606Trp) rs61733968

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