ClinVar Miner

Variants from Clinical Genetics, Academic Medical Center with conflicting interpretations

Location: Netherlands  Primary collection method: clinical testing
Minimum review status of the submission from Clinical Genetics, Academic Medical Center: Collection method of the submission from Clinical Genetics, Academic Medical Center:
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
35 3685 40 5705 1470 27 144 6471

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
Clinical Genetics, Academic Medical Center pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response established risk allele likely risk allele pathogenic, low penetrance protective risk factor other
pathogenic 0 162 33 2 4 0 0 0 0 0 1 0 3 0
likely pathogenic 76 0 28 0 0 0 0 0 0 0 1 0 0 0
uncertain significance 21 32 1 335 40 1 0 0 1 0 0 0 1 0
likely benign 2 5 454 7 860 0 0 0 0 0 0 0 2 1
benign 8 19 668 4607 32 1 4 3 0 1 0 1 7 6

Submitter to submitter summary #

Total submitters: 107
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
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 3282 0 2002 0 0 0 2002
GeneDx 0 5365 0 1421 262 1 34 1718
CeGaT Center for Human Genetics Tuebingen 0 1221 0 1162 152 0 16 1330
Ambry Genetics 0 1816 0 1083 173 0 25 1281
PreventionGenetics, part of Exact Sciences 0 2826 0 939 89 1 8 1037
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1430 0 1004 0 0 0 1004
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 1655 0 992 0 0 0 992
Eurofins Ntd Llc (ga) 0 1797 0 469 462 7 12 950
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 2872 0 913 0 0 2 915
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 1980 0 711 181 0 10 902
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 531 0 886 0 0 0 886
Genetic Services Laboratory, University of Chicago 0 635 0 635 101 0 2 738
Invitae 0 1684 0 576 132 3 19 730
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 1681 0 630 82 0 9 721
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 1513 0 374 64 1 1 440
Illumina Laboratory Services, Illumina 0 249 0 147 91 0 4 240
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 395 37 123 66 0 1 227
Athena Diagnostics Inc 0 1106 0 152 37 0 2 191
Mayo Clinic Laboratories, Mayo Clinic 0 388 0 69 71 0 4 144
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 557 0 136 0 0 0 136
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 133 0 110 14 0 2 126
Quest Diagnostics Nichols Institute San Juan Capistrano 0 209 0 97 19 0 1 117
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 266 0 85 30 0 0 115
Department of Pathology and Laboratory Medicine, Sinai Health System 0 58 0 25 61 0 1 87
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 153 0 68 13 0 1 82
Revvity Omics, Revvity 0 243 0 13 56 0 3 72
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 67 0 17 40 0 3 60
Color Diagnostics, LLC DBA Color Health 0 117 0 51 2 0 3 56
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 39 0 18 22 0 0 40
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 94 0 29 5 0 0 34
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 5 0 2 4 0 23 29
All of Us Research Program, National Institutes of Health 0 35 0 28 0 0 1 29
OMIM 0 23 0 3 2 17 4 26
Blueprint Genetics 0 21 0 15 6 0 4 25
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 36 0 15 7 0 0 22
Fulgent Genetics, Fulgent Genetics 0 55 0 19 0 0 1 20
AiLife Diagnostics, AiLife Diagnostics 0 46 0 11 0 0 5 16
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 118 0 13 0 0 0 13
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 56 0 10 0 0 2 12
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 1 8 0 0 0 9
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 9 0 8 0 0 0 8
Mendelics 0 19 0 4 3 0 1 8
CSER _CC_NCGL, University of Washington 0 8 0 1 6 0 1 8
Clinical Genetics and Genomics, Karolinska University Hospital 0 8 0 7 0 0 1 8
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 8 0 2 3 0 1 6
Natera, Inc. 0 10 0 2 4 0 0 6
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 2 2 0 0 2 6
Phosphorus, Inc. 0 0 0 4 1 0 1 6
Inherited Neuropathy Consortium 0 2 0 0 5 0 0 5
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 6 0 1 2 0 1 4
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 13 0 2 1 0 1 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 9 0 3 0 0 1 4
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 20 0 0 2 0 1 3
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 2 3
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 1 0 2 1 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 1 0 2 0 0 1 3
Leiden Open Variation Database 0 4 0 2 1 0 0 3
Institute of Human Genetics, University Hospital Muenster 0 11 0 2 1 0 0 3
Genome-Nilou Lab 0 24 0 2 1 0 0 3
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 4 0 1 1 0 0 2
PharmGKB 0 0 0 0 0 2 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 0 0 0 2 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 0 0 0 2 2
Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences 0 1 0 0 0 0 2 2
Institute of Human Genetics, University of Leipzig Medical Center 0 5 0 1 0 0 1 2
Kariminejad - Najmabadi Pathology & Genetics Center 0 4 0 2 0 0 0 2
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 3 0 2 0 0 0 2
Faculty of Health Sciences, Beirut Arab University 0 3 0 1 0 0 1 2
Phenosystems SA 0 0 0 0 1 0 1 2
Baylor Genetics 0 8 0 1 0 0 0 1
King Laboratory, University of Washington 0 0 0 1 0 0 0 1
MGZ Medical Genetics Center 0 0 0 1 0 0 0 1
FirmaLab, FirmaLab 0 0 0 0 0 0 1 1
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 0 0 0 1 1
Eye Genetics Research Group, Children's Medical Research Institute 0 0 0 0 1 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 6 0 0 1 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 2 0 1 0 0 0 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
Foundation Medicine, Inc. 0 0 0 0 1 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 1 0 0 0 1
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 1 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 0 0 1 0 0 1
Endocrine oncology group, Uppsala University 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 1 0 1 0 0 0 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 2 0 0 0 0 1 1
Sharon lab, Hadassah-Hebrew University Medical Center 0 1 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 0 1 0 0 1
Molecular Medicine, University of Leeds 0 0 0 0 0 0 1 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 1 0 0 0 1
Gharavi Laboratory, Columbia University 0 5 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 0 0 1 0 1
Klaassen Lab, Charite University Medicine Berlin 0 0 0 0 0 0 1 1
Genesis Genome Database 0 0 0 0 1 0 0 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 52 0 1 0 0 0 1
Paris Brain Institute, Inserm - ICM 0 0 0 0 1 0 0 1
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 1 0 1 0 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 0 0 1 0 0 0 1
Genomics England Pilot Project, Genomics England 0 0 0 1 0 0 0 1
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 0 1 0 0 1
Molecular Endocrinology Laboratory, Christian Medical College 0 0 0 1 0 0 0 1
Imperial College London Diabetes Centre, Mubadala Healthcare 0 0 0 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 0 0 0 1 0 0 0 1
Department of Endocrinology, The Fourth Affiliated Hospital of Guangzhou Medical University 0 0 0 0 0 1 0 1
Biology Molecular and Stem Cell Facilities Laboratory, National Cardiovascular Center, Harapan Kita Hospital 0 0 0 0 0 0 1 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 0 0 0 0 0 1 1
Center of Excellence in Clinical Pharmacokinetics and Pharmacogenomics, Faculty of Medicine, Chulalongkorn University 0 0 0 0 0 1 0 1

All variants with conflicting interpretations #

Total variants: 6471
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000363.5(TNNI3):c.373-10= rs7252610 0.99999
NM_000719.7(CACNA1C):c.5445-511= rs10774054 0.99951
NM_004415.4(DSP):c.741= (p.Ala247=) rs2806234 0.99917
NM_001042413.2(GLIS3):c.1270T>C (p.Ser424Pro) rs806052 0.99890
NM_005751.5(AKAP9):c.8935C>T (p.Pro2979Ser) rs1063242 0.99690
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val) rs2147377 0.99149
NM_005045.4(RELN):c.8843+7G>C rs2711885 0.98938
NM_004977.3(KCNC3):c.188A>G (p.Asp63Gly) rs375912738 0.98789
NM_006790.3(MYOT):c.220= (p.Gln74=) rs6890689 0.98540
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=) rs1432794 0.97933
NM_006214.4(PHYH):c.153C>T (p.Asn51=) rs1747682 0.96869
NM_181882.3(PRX):c.3394G>A (p.Gly1132Arg) rs268674 0.95976
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857 0.93013
NM_001003841.3(SLC6A19):c.990A>G (p.Thr330=) rs4975629 0.91839
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala) rs8037349 0.90740
NM_004715.5(CTDP1):c.2817T>C (p.Asp939=) rs626169 0.90284
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431 0.87890
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502 0.87885
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly) rs12021720 0.87100
NM_001849.4(COL6A2):c.1671+10A>G rs915786 0.86241
NM_198525.3(KIF7):c.2658A>C (p.Ala886=) rs3803531 0.85312
NM_182961.4(SYNE1):c.15043T>A (p.Leu5015Met) rs2306916 0.82174
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552 0.82099
NM_003282.4(TNNI2):c.60T>C (p.Ser20=) rs907610 0.82025
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr) rs6911096 0.80856
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg) rs9479297 0.80638
NM_004360.5(CDH1):c.48+6C>T rs3743674 0.80384
NM_015915.5(ATL1):c.351G>A (p.Glu117=) rs1060197 0.79691
NM_004415.4(DSP):c.2091A>G (p.Gly697=) rs2076304 0.76849
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_000601.6(HGF):c.1272-4A>G rs1800793 0.76662
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449 0.75774
NM_001372574.1(ATXN2):c.42G>A (p.Gln14=) rs4098854 0.75204
NM_001358921.2(COQ2):c.744T>C (p.Asp248=) rs6535454 0.74903
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799 0.73957
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596 0.71202
NM_001365536.1(SCN9A):c.444A>G (p.Pro148=) rs9646771 0.70187
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=) rs3729547 0.69444
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355 0.69367
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573 0.68049
NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=) rs4674 0.66668
NM_000709.4(BCKDHA):c.972C>T (p.Phe324=) rs284652 0.66509
NM_201384.3(PLEC):c.2457+6C>T rs11780911 0.66214
NM_000108.5(DLD):c.439-7T>C rs10263341 0.66181
NM_144599.5(NIPA1):c.441A>G (p.Thr147=) rs11263683 0.65973
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599 0.64925
NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=) rs4407724 0.64816
NM_001018005.2(TPM1):c.453C>A (p.Ala151=) rs1071646 0.64628
NM_001365536.1(SCN9A):c.174G>A (p.Gln58=) rs6432901 0.64588
NM_020822.3(KCNT1):c.2427G>A (p.Thr809=) rs914428 0.64398
NM_006005.3(WFS1):c.461-9A>G rs10010131 0.63169
NM_001358921.2(COQ2):c.46G>T (p.Val16Leu) rs6818847 0.62431
NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=) rs2256135 0.62211
NM_001042413.2(GLIS3):c.1367C>A (p.Pro456Gln) rs6415788 0.62075
NM_001372574.1(ATXN2):c.-91C>T rs695872 0.61029
NM_000540.3(RYR1):c.594A>G (p.Leu198=) rs2229139 0.60966
NM_001372574.1(ATXN2):c.-162C>G rs695871 0.60874
NM_001875.5(CPS1):c.1032C>T (p.Thr344=) rs2229589 0.59558
NM_181882.3(PRX):c.2645T>C (p.Val882Ala) rs268671 0.59048
NM_000078.3(CETP):c.1264G>A (p.Val422Ile) rs5882 0.58912
NM_182961.4(SYNE1):c.10866T>C (p.Ser3622=) rs9397102 0.57769
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249 0.57256
NM_181882.3(PRX):c.2655T>C (p.Pro885=) rs268672 0.56968
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774 0.56484
NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp) rs4645434 0.55815
NM_001482.3(GATM):c.1252T>C (p.Leu418=) rs1145086 0.55793
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472 0.54674
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=) rs7158 0.53959
NM_002529.4(NTRK1):c.1887C>T (p.Ala629=) rs6337 0.53946
NM_000053.4(ATP7B):c.3903+6C>T rs2282057 0.53754
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=) rs9672286 0.53592
NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg) rs12900805 0.52523
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile) rs3803530 0.52464
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala) rs214976 0.52364
NM_000257.4(MYH7):c.189C>T (p.Thr63=) rs2069540 0.51584
NM_001415.4(EIF2S3):c.99C>T (p.His33=) rs36018672 0.51303
NM_006073.4(TRDN):c.383C>G (p.Thr128Ser) rs9490809 0.50546
NM_182961.4(SYNE1):c.1047+4T>A rs9397106 0.50379
NM_005045.4(RELN):c.8046T>C (p.His2682=) rs2229864 0.49951
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082 0.49943
NM_005045.4(RELN):c.578-3T>C rs607755 0.49658
NM_001378454.1(ALMS1):c.2190C>T (p.Phe730=) rs7598901 0.49457
NM_024577.4(SH3TC2):c.1194T>C (p.Gly398=) rs1432793 0.48793
NM_025137.4(SPG11):c.1388T>C (p.Phe463Ser) rs3759871 0.48431
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616 0.48362
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606 0.47852
NM_013266.4(CTNNA3):c.1787G>A (p.Ser596Asn) rs4548513 0.47526
NM_006446.5(SLCO1B1):c.571T>C (p.Leu191=) rs4149057 0.46746
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val) rs1055138 0.46276
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458 0.45824
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro) rs11120047 0.45814
NM_001482.3(GATM):c.330A>T (p.Gln110His) rs1288775 0.45330
NM_001244008.2(KIF1A):c.991T>C (p.Leu331=) rs1063353 0.45235
NM_001042472.3(ABHD12):c.1068T>C (p.Asp356=) rs10966 0.45223
NM_174936.4(PCSK9):c.658-7C>T rs2483205 0.45035
NM_002454.3(MTRR):c.66A>G (p.Ile22Met) rs1801394 0.44947
NM_006446.5(SLCO1B1):c.597C>T (p.Phe199=) rs2291075 0.44938
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg) rs2244492 0.44551
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44536
NM_001202.6(BMP4):c.455T>C (p.Val152Ala) rs17563 0.44424
NM_000257.4(MYH7):c.2967T>C (p.Ile989=) rs7157716 0.43030
NM_001042472.3(ABHD12):c.837C>T (p.Arg279=) rs6107027 0.42961
NM_000214.3(JAG1):c.765C>T (p.Tyr255=) rs1131695 0.42930
NM_014000.3(VCL):c.2388G>A (p.Pro796=) rs767809 0.42862
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=) rs3738725 0.42035
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244 0.41941
NM_000249.4(MLH1):c.1668-19A>G rs9876116 0.41821
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243 0.41549
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_000203.5(IDUA):c.60G>A (p.Ala20=) rs10902762 0.39819
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=) rs7413162 0.39681
NM_032578.4(MYPN):c.2072G>A (p.Ser691Asn) rs10997975 0.39270
NM_001003841.3(SLC6A19):c.306T>C (p.Gly102=) rs60992377 0.39132
NM_001371279.1(REEP1):c.285G>A (p.Thr95=) rs2276625 0.39011
NM_014053.4(FLVCR1):c.1631C>T (p.Thr544Met) rs3207090 0.38895
NM_000384.3(APOB):c.7545C>T (p.Thr2515=) rs693 0.38722
NM_000540.3(RYR1):c.7835+5A>G rs1469695 0.38217
NM_000439.5(PCSK1):c.1650T>C (p.Asn550=) rs6233 0.38001
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321 0.37107
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala) rs2252755 0.36980
NM_181882.3(PRX):c.2763A>G (p.Ile921Met) rs268673 0.36279
NM_003244.4(TGIF1):c.16+1720del rs11571510 0.36186
NM_033337.3(CAV3):c.99C>T (p.Asn33=) rs1008642 0.35756
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_000363.5(TNNI3):c.25-8T>A rs3729836 0.35138
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile) rs2042996 0.34979
NM_017739.4(POMGNT1):c.681A>G (p.Lys227=) rs2292487 0.34915
NM_022437.3(ABCG8):c.161A>G (p.Tyr54Cys) rs4148211 0.34608
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330 0.34583
NM_005751.5(AKAP9):c.8375A>G (p.Asn2792Ser) rs6960867 0.33817
NM_000311.5(PRNP):c.385A>G (p.Met129Val) rs1799990 0.33516
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=) rs2915951 0.33482
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=) rs2229144 0.33092
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=) rs2960340 0.33086
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn) rs1047891 0.33052
NM_144670.6(A2ML1):c.3364C>T (p.Arg1122Trp) rs1860967 0.33038
NM_003384.3(VRK1):c.705C>T (p.Gly235=) rs2230532 0.32707
NM_001848.3(COL6A1):c.2667G>A (p.Ala889=) rs1053315 0.32659
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=) rs2229146 0.32548
NM_003384.3(VRK1):c.45A>G (p.Ala15=) rs2145635 0.32398
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=) rs2071089 0.32394
NM_000540.3(RYR1):c.8693-10G>C rs2915958 0.32159
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=) rs2915952 0.32150
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871 0.31596
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869 0.31585
NM_052845.4(MMAB):c.57C>A (p.Arg19=) rs10774774 0.31358
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683 0.30966
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181 0.30942
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486 0.30800
NM_004393.6(DAG1):c.2256C>T (p.His752=) rs1801143 0.30176
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=) rs2229920 0.30148
NM_201384.3(PLEC):c.4045-4A>G rs7002152 0.29962
NM_020822.3(KCNT1):c.1749G>A (p.Ala583=) rs17038714 0.29915
NM_182961.4(SYNE1):c.24825G>A (p.Pro8275=) rs2252748 0.29787
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665 0.29501
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081 0.29390
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu) rs2627043 0.29094
NM_006214.4(PHYH):c.636A>G (p.Thr212=) rs473407 0.28866
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=) rs17309806 0.27837
NM_005957.5(MTHFR):c.665C>T (p.Ala222Val) rs1801133 0.27446
NM_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542 0.27385
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166 0.27295
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) rs3219489 0.26720
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321 0.26575
NM_182961.4(SYNE1):c.17346+7G>A rs9383985 0.26223
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_198525.3(KIF7):c.3517+6C>T rs74251725 0.25419
NM_000235.4(LIPA):c.46A>C (p.Thr16Pro) rs1051338 0.25399
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999 0.25357
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_001365951.3(KIF1B):c.285C>G (p.Ala95=) rs12402052 0.24010
NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu) rs6234 0.23916
NM_033337.3(CAV3):c.123T>C (p.Phe41=) rs13087941 0.23875
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_002303.6(LEPR):c.1029T>C (p.Ser343=) rs1805134 0.23693
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=) rs11121552 0.23676
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530 0.23571
NM_182961.4(SYNE1):c.8384C>T (p.Ala2795Val) rs214950 0.23524
NM_000540.3(RYR1):c.7614+10C>G rs2960323 0.23284
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr) rs1801449 0.23274
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.23048
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472 0.22903
NM_000439.5(PCSK1):c.2069G>C (p.Ser690Thr) rs6235 0.22796
NM_001358921.2(COQ2):c.840C>T (p.Ser280=) rs1129617 0.22636
NM_024577.4(SH3TC2):c.1402G>T (p.Ala468Ser) rs6875902 0.22262
NM_001244008.2(KIF1A):c.3641-8C>T rs56024577 0.22160
NM_213622.4(STAMBP):c.1218+12T>C rs1025424 0.21855
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser) rs10151259 0.21790
NM_006514.4(SCN10A):c.3275T>C (p.Leu1092Pro) rs12632942 0.21722
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_006269.2(RP1):c.5008G>A (p.Ala1670Thr) rs446227 0.21425
NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu) rs6720173 0.21159
NM_006514.4(SCN10A):c.2884A>G (p.Ile962Val) rs57326399 0.20797
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_000270.4(PNP):c.151G>A (p.Gly51Ser) rs1049564 0.20682
NM_198525.3(KIF7):c.154G>A (p.Asp52Asn) rs8179065 0.20556
NM_002465.4(MYBPC1):c.556+10C>G rs61935677 0.20237
NM_020778.5(ALPK3):c.4259T>C (p.Leu1420Pro) rs187316 0.20037
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_001130987.2(DYSF):c.6321+15C>T rs2559082 0.19470
NM_020778.5(ALPK3):c.635C>G (p.Thr212Ser) rs3803403 0.19072
NM_015915.5(ATL1):c.84A>G (p.Pro28=) rs35014209 0.18809
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821 0.18742
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) rs11558179 0.18595
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_170707.4(LMNA):c.1157+16G>A rs534807 0.18318
NM_020778.5(ALPK3):c.1130G>A (p.Gly377Glu) rs3803405 0.18268
NM_001379200.1(TBX1):c.1216A>C (p.Asn406His) rs72646967 0.17704
NM_024079.5(ALG8):c.665A>G (p.Asn222Ser) rs665278 0.17617
NM_001267550.2(TTN):c.2432C>T (p.Thr811Ile) rs35813871 0.17564
NM_005045.4(RELN):c.10074A>G (p.Ala3358=) rs1062831 0.17444
NM_006073.4(TRDN):c.1257C>A (p.Asp419Glu) rs17737379 0.17356
NM_005045.4(RELN):c.7887T>C (p.Pro2629=) rs56345626 0.17070
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile) rs73066479 0.16867
NM_001267550.2(TTN):c.8902+14del rs573000455 0.16798
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His) rs12693166 0.16435
NM_000540.3(RYR1):c.7863C>T (p.His2621=) rs2229142 0.16420
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708 0.16388
NM_000455.5(STK11):c.920+7G>C rs2075607 0.16357
NM_153006.3(NAGS):c.1086T>C (p.Phe362=) rs55708447 0.16339
NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser) rs12693164 0.16204
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) rs7862221 0.15974
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala) rs16866465 0.15861
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215 0.15549
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser) rs28938169 0.15001
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870 0.14754
NM_201384.3(PLEC):c.3757-9A>G rs57461687 0.14687
NM_182961.4(SYNE1):c.17745C>T (p.His5915=) rs12664753 0.14557
NM_004281.4(BAG3):c.451T>C (p.Cys151Arg) rs2234962 0.14532
NM_022114.4(PRDM16):c.1898C>T (p.Pro633Leu) rs2493292 0.14386
NM_013382.7(POMT2):c.1654-6A>G rs4540995 0.14330
NM_024301.5(FKRP):c.135C>T (p.Ala45=) rs2287717 0.14031
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299 0.13777
NM_001130987.2(DYSF):c.888+11T>C rs13428076 0.13574
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu) rs16866406 0.13367
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His) rs2288569 0.13356
NM_182961.4(SYNE1):c.22671C>T (p.Ile7557=) rs3798756 0.13297
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys) rs744426 0.13213
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899 0.13133
NM_000548.5(TSC2):c.482-3C>T rs1800720 0.12927
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889 0.12866
NM_001148.6(ANK2):c.7106T>C (p.Val2369Ala) rs28377576 0.12654
NM_181882.3(PRX):c.3248C>G (p.Pro1083Arg) rs3745202 0.12427
NM_181882.3(PRX):c.306C>T (p.Thr102=) rs744389 0.12409
NM_006446.5(SLCO1B1):c.463C>A (p.Pro155Thr) rs11045819 0.12387
NM_182961.4(SYNE1):c.12276C>T (p.Leu4092=) rs71575926 0.12377
NM_006757.4(TNNT3):c.762C>T (p.Gly254=) rs4727 0.12344
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.12205
NM_020320.5(RARS2):c.1704A>G (p.Lys568=) rs8802 0.12189
NM_207346.3(TSEN54):c.370-19C>A rs56895494 0.12137
NM_006446.5(SLCO1B1):c.521T>C (p.Val174Ala) rs4149056 0.12106
NM_001849.4(COL6A2):c.1609-10C>T rs17357592 0.11879
NM_000354.5(SERPINA7):c.909G>T (p.Leu303Phe) rs1804495 0.11690
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748 0.11424
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys) rs2742347 0.11354
NM_182961.4(SYNE1):c.24502G>T (p.Ala8168Ser) rs17082236 0.11250
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516 0.10783
NM_000214.3(JAG1):c.588C>T (p.Cys196=) rs1801138 0.10620
NM_004369.4(COL6A3):c.6945C>T (p.Phe2315=) rs2646265 0.10608
NM_004369.4(COL6A3):c.7512C>T (p.Asn2504=) rs2646258 0.10531
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys) rs16866538 0.10360
NM_182961.4(SYNE1):c.26221C>A (p.Leu8741Met) rs2295190 0.10350
NM_000113.3(TOR1A):c.646G>C (p.Asp216His) rs1801968 0.10301
NM_005045.4(RELN):c.2989C>G (p.Leu997Val) rs362691 0.10133
NM_004369.4(COL6A3):c.9213C>T (p.His3071=) rs2270671 0.10029
NM_001130987.2(DYSF):c.951+4T>C rs11903960 0.09951
NM_000142.5(FGFR3):c.445+3A>G rs3135868 0.09950
NM_001267550.2(TTN):c.68217T>C (p.His22739=) rs10497517 0.09829
NM_005045.4(RELN):c.1776A>G (p.Glu592=) rs2072403 0.09661
NM_004360.5(CDH1):c.1937-13T>C rs2276330 0.09635
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496 0.09551
NM_004082.5(DCTN1):c.3610-20C>G rs2268427 0.09345
NM_001367721.1(CASK):c.1034-6C>T rs73470569 0.09241
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met) rs2306942 0.09135
NM_006514.4(SCN10A):c.1525T>C (p.Ser509Pro) rs7630989 0.08988
NM_182914.3(SYNE2):c.1721T>C (p.Ile574Thr) rs9944035 0.08879
NM_182914.3(SYNE2):c.12001T>C (p.Trp4001Arg) rs2792205 0.08782
NM_182914.3(SYNE2):c.12002G>A (p.Trp4001Ter) rs2781377 0.08740
NM_001182.5(ALDH7A1):c.1315A>C (p.Lys439Gln) rs12514417 0.08598
NM_201384.3(PLEC):c.12561C>T (p.Asp4187=) rs11998271 0.08588
NM_213622.4(STAMBP):c.1218+20A>G rs2303987 0.08472
NM_004985.5(KRAS):c.451-9G>A rs12313763 0.08467
NM_033337.3(CAV3):c.27C>T (p.Leu9=) rs1974763 0.08452
NM_000516.7(GNAS):c.555C>T (p.Ile185=) rs8620 0.08427
NM_000214.3(JAG1):c.2214A>C (p.Thr738=) rs1801140 0.08364
NM_001378969.1(KCND3):c.264C>T (p.Pro88=) rs17221819 0.08351
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=) rs3729845 0.08311
NM_000214.3(JAG1):c.267G>A (p.Gly89=) rs1051415 0.08298
NM_178857.6(RP1L1):c.3981A>G (p.Thr1327=) rs112656102 0.08193
NM_000426.4(LAMA2):c.4523+19C>T rs17057158 0.08168
NM_178857.6(RP1L1):c.3972A>G (p.Glu1324=) rs4840500 0.08031
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626 0.08017
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254 0.07931
NM_000218.3(KCNQ1):c.1590+14T>C rs11024034 0.07860
NM_001267550.2(TTN):c.26681C>T (p.Pro8894Leu) rs13398235 0.07839
NM_001267550.2(TTN):c.106275G>C (p.Gly35425=) rs56207956 0.07828
NM_003560.4(PLA2G6):c.209+16C>T rs2267368 0.07814
NM_001267550.2(TTN):c.25921+10C>T rs10183237 0.07769
NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp) rs61749698 0.07665
NM_201384.3(PLEC):c.8820C>G (p.Asp2940Glu) rs58308209 0.07595
NM_003865.3(HESX1):c.374A>G (p.Asn125Ser) rs9878928 0.07568
NM_004369.4(COL6A3):c.6653C>T (p.Pro2218Leu) rs36117715 0.07538
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120 0.07445
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala) rs17029215 0.07361
NM_000363.5(TNNI3):c.150+13G>A rs73617692 0.07353
NM_004369.4(COL6A3):c.8962A>G (p.Met2988Val) rs11690358 0.07295
NM_003476.5(CSRP3):c.336G>A (p.Ala112=) rs13451 0.07238
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser) rs34544747 0.07202
NM_001267550.2(TTN):c.42783A>G (p.Lys14261=) rs16866425 0.07162
NM_001267550.2(TTN):c.42958A>G (p.Lys14320Glu) rs6723526 0.07129
NM_001375883.1(GPR161):c.-45+481A>T rs73030230 0.06974
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg) rs28711516 0.06950
NM_000214.3(JAG1):c.744A>G (p.Pro248=) rs10485741 0.06947
NM_005866.4(SIGMAR1):c.552C>T (p.Phe184=) rs61739588 0.06946
NM_178857.6(RP1L1):c.3982G>A (p.Glu1328Lys) rs141046710 0.06937
NM_001368067.1(LDB3):c.504T>C (p.Asp168=) rs76615432 0.06909
NM_004369.4(COL6A3):c.8451A>G (p.Pro2817=) rs61729844 0.06907
NM_004369.4(COL6A3):c.7842C>T (p.Ser2614=) rs34558385 0.06903
NM_004369.4(COL6A3):c.8820G>A (p.Thr2940=) rs11683438 0.06890
NM_001458.5(FLNC):c.3624G>A (p.Ala1208=) rs35281128 0.06868
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly) rs72657698 0.06836
NM_007078.3(LDB3):c.690-4842G>A rs113445294 0.06823
NM_001365536.1(SCN9A):c.3802-4A>G rs75230218 0.06754
NM_014000.3(VCL):c.1506G>A (p.Arg502=) rs2228373 0.06736
NM_004369.4(COL6A3):c.7329C>T (p.Ala2443=) rs10084221 0.06701
NM_004369.4(COL6A3):c.9129C>T (p.Arg3043=) rs10201909 0.06660
NM_182961.4(SYNE1):c.3306C>T (p.His1102=) rs17082701 0.06632
NM_022437.3(ABCG8):c.55G>C (p.Asp19His) rs11887534 0.06566
NM_182961.4(SYNE1):c.14061G>C (p.Leu4687=) rs3734365 0.06565
NM_000169.3(GLA):c.-12G>A rs3027585 0.06554
NM_001195248.2(APTX):c.484-12_484-11insG rs377129152 0.06469
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_001458.5(FLNC):c.4700G>A (p.Arg1567Gln) rs2291569 0.06258
NM_000051.4(ATM):c.378T>A (p.Asp126Glu) rs2234997 0.06244
NM_001182.5(ALDH7A1):c.273T>C (p.Thr91=) rs60720055 0.06152
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712 0.06133
NM_001927.4(DES):c.578+11G>A rs111548596 0.06130
NM_000516.7(GNAS):c.1113C>T (p.Asn371=) rs8386 0.06127
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His) rs10164753 0.06031
NM_182961.4(SYNE1):c.2653T>G (p.Leu885Val) rs17082709 0.06016
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194 0.05969
NM_002470.4(MYH3):c.2106C>T (p.Gly702=) rs56259391 0.05968
NM_002470.4(MYH3):c.2610A>G (p.Lys870=) rs56163389 0.05967
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg) rs3730238 0.05965
NM_005045.4(RELN):c.6702T>C (p.Cys2234=) rs2075043 0.05938
NM_001368894.2(PAX6):c.808-12C>T rs667773 0.05916
NM_201384.3(PLEC):c.8319C>T (p.Ala2773=) rs34534853 0.05909
NM_001267550.2(TTN):c.22080T>C (p.Asp7360=) rs16866473 0.05854
NM_201384.3(PLEC):c.265-16C>G rs11993492 0.05821
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln) rs11896521 0.05751
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_182961.4(SYNE1):c.19104+17A>G rs17082389 0.05731
NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala) rs16866378 0.05725
NM_001142864.4(PIEZO1):c.2991+12A>G rs112680298 0.05710
NM_000165.5(GJA1):c.*3dup rs397824185 0.05665
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn) rs11888217 0.05644
NM_001377265.1(MAPT):c.1178C>T (p.Ser393Leu) rs73314997 0.05622
NM_013382.7(POMT2):c.162G>T (p.Ala54=) rs2270420 0.05519
NM_144670.6(A2ML1):c.3569C>T (p.Ala1190Val) rs73040625 0.05426
NM_213622.4(STAMBP):c.12T>C (p.His4=) rs919629 0.05408
NM_178857.6(RP1L1):c.3979A>G (p.Thr1327Ala) rs139405108 0.05322
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn) rs11553519 0.05277
NM_014862.4(ARNT2):c.1815C>G (p.Thr605=) rs79914316 0.05224
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_058246.4(DNAJB6):c.176-20A>G rs28377945 0.05106
NM_182961.4(SYNE1):c.26060C>T (p.Thr8687Ile) rs35591210 0.05093
NM_001082971.2(DDC):c.1385G>A (p.Arg462Gln) rs11575542 0.05076
NM_001267550.2(TTN):c.8919C>G (p.Ser2973=) rs4894045 0.05021
NM_001267550.2(TTN):c.9461A>G (p.Lys3154Arg) rs4893853 0.05020
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_016592.5(GNAS):c.294C>T (p.Pro98=) rs1800902 0.04961
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly) rs35219601 0.04960
NM_018129.4(PNPO):c.347G>A (p.Arg116Gln) rs17679445 0.04944
NM_000218.3(KCNQ1):c.478-10G>A rs28730752 0.04910
NM_001267550.2(TTN):c.8492G>A (p.Ser2831Asn) rs2306636 0.04907
NM_001232.4(CASQ2):c.1194T>C (p.Asp398=) rs28730711 0.04871
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys) rs1805007 0.04832
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042 0.04830
NM_000257.4(MYH7):c.2923-18G>A rs7157087 0.04825
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile) rs56142888 0.04798
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929 0.04795
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_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.04708
NM_032638.5(GATA2):c.564G>C (p.Thr188=) rs34870876 0.04681
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu) rs2295837 0.04647
NM_005027.4(PIK3R2):c.2127C>T (p.Thr709=) rs112813367 0.04637
NM_002230.4(JUP):c.1653+10C>A rs73983658 0.04634
NM_000070.3(CAPN3):c.2380+12del rs28364538 0.04623
NM_005022.4(PFN1):c.334C>T (p.Leu112=) rs13204 0.04611
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405 0.04608
NM_182961.4(SYNE1):c.5190T>A (p.Asp1730Glu) rs111250109 0.04561
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=) rs2228490 0.04552
NM_001267550.2(TTN):c.88272G>A (p.Glu29424=) rs9808036 0.04549
NM_005045.4(RELN):c.8136A>G (p.Leu2712=) rs3808039 0.04529
NM_005477.3(HCN4):c.107G>A (p.Gly36Glu) rs143090627 0.04452
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335 0.04399
NM_001365536.1(SCN9A):c.1469G>A (p.Ser490Asn) rs58022607 0.04393
NM_001365536.1(SCN9A):c.1155G>T (p.Val385=) rs58465962 0.04390
NM_001130987.2(DYSF):c.3575-17C>T rs13421969 0.04340
NM_001204.7(BMPR2):c.853-21dup rs11464745 0.04307
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_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164 0.04243
NM_001376.5(DYNC1H1):c.13372+4C>T rs17541657 0.04171
NM_020247.5(COQ8A):c.255T>G (p.His85Gln) rs2297411 0.04148
NM_207346.3(TSEN54):c.568G>A (p.Val190Met) rs79508780 0.04141
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359 0.04130
NM_033343.4(LHX4):c.450C>T (p.Asn150=) rs16855642 0.04109
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=) rs2272727 0.04082
NM_005045.4(RELN):c.1596G>A (p.Gln532=) rs41276154 0.04078
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998 0.04075
NM_001267550.2(TTN):c.105782C>T (p.Pro35261Leu) rs16866380 0.04073
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn) rs3813243 0.04071
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406 0.04069
NM_001352514.2(HLCS):c.727G>A (p.Val243Ile) rs61732502 0.04059
NM_182961.4(SYNE1):c.15597C>G (p.Ala5199=) rs9383987 0.04048
NM_000487.6(ARSA):c.1149C>T (p.Asp383=) rs6151425 0.04013
NM_005957.5(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976 0.03996
NM_001267550.2(TTN):c.98912G>A (p.Arg32971His) rs4894028 0.03961
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu) rs17599091 0.03958
NM_001267550.2(TTN):c.49731T>C (p.His16577=) rs2115558 0.03943
NM_001352514.2(HLCS):c.567G>T (p.Glu189Asp) rs61732504 0.03941
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val) rs3731752 0.03923
NM_001042413.2(GLIS3):c.2686C>T (p.Leu896Phe) rs76094493 0.03919
NM_182914.3(SYNE2):c.7040C>A (p.Ala2347Glu) rs34625768 0.03914
NM_182914.3(SYNE2):c.7075A>G (p.Ser2359Gly) rs7157465 0.03914
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_174936.4(PCSK9):c.658-36G>A rs11800265 0.03888
NM_003737.4(DCHS1):c.6991G>A (p.Val2331Ile) rs7924553 0.03864
NM_001177693.2(ARHGEF28):c.4622C>G (p.Ala1541Gly) rs78992879 0.03856
NM_144670.6(A2ML1):c.2868C>T (p.Ala956=) rs56179521 0.03852
NM_201384.3(PLEC):c.11089C>T (p.Leu3697=) rs17062686 0.03808
NM_005045.4(RELN):c.8508C>T (p.Phe2836=) rs2229862 0.03751
NM_001267550.2(TTN):c.100579G>A (p.Val33527Ile) rs2278196 0.03742
NM_001177693.2(ARHGEF28):c.3294T>C (p.Ala1098=) rs61734875 0.03735
NM_005297.4(MCHR1):c.100G>A (p.Gly34Arg) rs11914085 0.03721
NM_201384.3(PLEC):c.718+10C>T rs12545876 0.03717
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val) rs16866412 0.03700
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val) rs6339 0.03698
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) rs6336 0.03696
NM_001199397.3(NEK1):c.1388C>T (p.Ala463Val) rs34540355 0.03694
NM_001142864.4(PIEZO1):c.1013C>A (p.Ser338Tyr) rs112081600 0.03693
NM_080425.4(GNAS):c.627G>A (p.Lys209=) rs74934823 0.03663
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys) rs73038324 0.03639
NM_016156.6(MTMR2):c.1504G>C (p.Glu502Gln) rs61735578 0.03636
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592 0.03631
NM_001122955.4(BSCL2):c.60C>G (p.Asp20Glu) rs115116507 0.03600
NM_001849.4(COL6A2):c.714+9C>T rs78822624 0.03565
NM_001267550.2(TTN):c.48996G>A (p.Glu16332=) rs72677244 0.03561
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_001267550.2(TTN):c.69145A>G (p.Ile23049Val) rs72646881 0.03550
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_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321 0.03472
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser) rs3742030 0.03470
NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val) rs16866531 0.03468
NM_000168.6(GLI3):c.4609C>T (p.Arg1537Cys) rs35364414 0.03460
NM_000168.6(GLI3):c.4007G>A (p.Gly1336Glu) rs35280470 0.03456
NM_001130987.2(DYSF):c.460+17G>C rs115170960 0.03446
NM_001458.5(FLNC):c.3838C>T (p.Leu1280=) rs34180031 0.03419
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp) rs56308529 0.03418
NM_182961.4(SYNE1):c.14917C>T (p.Leu4973=) rs35085679 0.03417
NM_182961.4(SYNE1):c.13221C>T (p.Asp4407=) rs10499268 0.03416
NM_002354.3(EPCAM):c.904-12T>C rs62139669 0.03374
NM_000363.5(TNNI3):c.198G>A (p.Glu66=) rs3729710 0.03372
NM_004360.5(CDH1):c.48+5C>G rs77312180 0.03370
NM_025137.4(SPG11):c.3420G>A (p.Leu1140=) rs36014111 0.03348
NM_000257.4(MYH7):c.1605A>G (p.Glu535=) rs2069543 0.03319
NM_005045.4(RELN):c.5351+3A>G rs6967725 0.03307
NM_182914.3(SYNE2):c.14734C>G (p.Pro4912Ala) rs17766354 0.03286
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373 0.03282
NM_182914.3(SYNE2):c.3559A>C (p.Ile1187Leu) rs57259697 0.03281
NM_001171.6(ABCC6):c.346-6G>A rs55778939 0.03265
NM_001130987.2(DYSF):c.666T>C (p.Pro222=) rs35392229 0.03244
NM_003476.5(CSRP3):c.150G>A (p.Ala50=) rs7124801 0.03207
NM_000439.5(PCSK1):c.661A>G (p.Asn221Asp) rs6232 0.03201
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03196
NM_022367.4(SEMA4A):c.2138G>A (p.Arg713Gln) rs41265017 0.03176
NM_000142.5(FGFR3):c.588C>T (p.Arg196=) rs2305180 0.03125
NM_000540.3(RYR1):c.2871-5C>T rs45585535 0.03110
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428 0.03048
NM_012213.3(MLYCD):c.31A>G (p.Arg11Gly) rs138107830 0.03048
NM_001082971.2(DDC):c.649A>G (p.Met217Val) rs6263 0.03032
NM_000540.3(RYR1):c.7260C>T (p.His2420=) rs12973632 0.03031
NM_001130987.2(DYSF):c.1577-1635C>G rs76402294 0.03029
NM_004415.4(DSP):c.423-16_423-15insC rs113028223 0.03015
NM_001142864.4(PIEZO1):c.3456-11C>T rs77276858 0.03009
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179 0.03009
NM_001848.3(COL6A1):c.2435-19C>T rs115181427 0.03003
NM_001458.5(FLNC):c.1614C>T (p.Tyr538=) rs76046880 0.02993
NM_005573.4(LMNB1):c.432G>A (p.Ser144=) rs34224885 0.02972
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581 0.02951
NM_182914.3(SYNE2):c.9078A>T (p.Glu3026Asp) rs34843668 0.02941
NM_182914.3(SYNE2):c.7690A>G (p.Ile2564Val) rs11628107 0.02936
NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val) rs17355446 0.02915
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126 0.02895
NM_001267550.2(TTN):c.32393-12A>G rs16866434 0.02884
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680 0.02876
NM_130797.4(DPP6):c.226G>A (p.Asp76Asn) rs569787719 0.02864
NM_198525.3(KIF7):c.2043T>A (p.Val681=) rs72750755 0.02861
NM_001848.3(COL6A1):c.2781C>T (p.Tyr927=) rs61735853 0.02858
NM_000051.4(ATM):c.657T>C (p.Cys219=) rs2235003 0.02841
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118 0.02828
NM_022773.4(LMF1):c.1091G>A (p.Arg364Gln) rs35168378 0.02818
NM_000426.4(LAMA2):c.6167C>A (p.Thr2056Lys) rs73775407 0.02812
NM_001458.5(FLNC):c.2390-13C>T rs78086167 0.02800
NM_020451.3(SELENON):c.981C>T (p.Arg327=) rs147587542 0.02788
NM_001458.5(FLNC):c.5669-12C>T rs79790270 0.02786
NM_001267550.2(TTN):c.36299A>T (p.Glu12100Val) rs73973133 0.02781
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp) rs1800273 0.02767
NM_021625.5(TRPV4):c.2459-9T>G rs115373018 0.02700
NM_001927.4(DES):c.408C>T (p.Leu136=) rs111828114 0.02697
NM_007078.3(LDB3):c.1074C>T (p.Ala358=) rs45459491 0.02688
NM_001849.4(COL6A2):c.679G>A (p.Asp227Asn) rs35881321 0.02685
NM_004369.4(COL6A3):c.9123G>A (p.Thr3041=) rs61729843 0.02678
NM_213599.3(ANO5):c.2521-13A>G rs76850415 0.02660
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02655
NM_020366.4(RPGRIP1):c.3341A>G (p.Asp1114Gly) rs17103671 0.02649
NM_182961.4(SYNE1):c.16277C>T (p.Thr5426Met) rs2306914 0.02635
NM_004369.4(COL6A3):c.1313-17A>G rs7579816 0.02624
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln) rs34211915 0.02614
NM_001267550.2(TTN):c.8116+19G>A rs13011633 0.02607
NM_001372044.2(SHANK3):c.1803-8C>T rs112659165 0.02605
NM_004415.4(DSP):c.1903+7T>C rs28763962 0.02605
NM_000455.5(STK11):c.816C>T (p.Tyr272=) rs9282859 0.02603
NM_001372044.2(SHANK3):c.2386G>A (p.Ala796Thr) rs61729471 0.02583
NM_182961.4(SYNE1):c.22452A>G (p.Ser7484=) rs36044575 0.02562
NM_021625.5(TRPV4):c.81T>C (p.Gly27=) rs34599967 0.02557
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821 0.02553
NM_024334.3(TMEM43):c.163-14C>T rs113745859 0.02553
NM_001035.3(RYR2):c.8437-7dup rs148246251 0.02544
NM_000466.3(PEX1):c.3439-14_3439-13del rs150005994 0.02536
NM_001723.7(DST):c.7765A>G (p.Ile2589Val) rs150191284 0.02534
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986 0.02522
NM_022437.3(ABCG8):c.239G>A (p.Cys80Tyr) rs80025980 0.02513
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_001171.6(ABCC6):c.2224A>G (p.Ile742Val) rs59593133 0.02501
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678 0.02490
NM_000051.4(ATM):c.8786+8A>C rs4986839 0.02488
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=) rs34836829 0.02488
NM_003193.5(TBCE):c.614T>C (p.Val205Ala) rs16832611 0.02475
NM_002470.4(MYH3):c.5457+3G>A rs200954595 0.02449
NM_003193.5(TBCE):c.1226A>G (p.Glu409Gly) rs16832619 0.02446
NM_014317.5(PDSS1):c.89G>T (p.Gly30Val) rs17855857 0.02444
NM_001130987.2(DYSF):c.4222-20G>A rs111935215 0.02442
NM_181507.2(HPS5):c.3293C>T (p.Thr1098Ile) rs61884288 0.02435
NM_000441.2(SLC26A4):c.1708-18T>A rs55701254 0.02432
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr) rs35683768 0.02431
NM_004369.4(COL6A3):c.7509G>A (p.Arg2503=) rs34181055 0.02427
NM_013266.4(CTNNA3):c.1655C>T (p.Thr552Met) rs61737718 0.02389
NM_001267550.2(TTN):c.45526C>T (p.Leu15176=) rs61004744 0.02387
NM_001142864.4(PIEZO1):c.588G>T (p.Leu196=) rs142099589 0.02381
NM_000257.4(MYH7):c.895+17G>A rs45580436 0.02377
NM_000513.2(OPN1MW):c.521C>T (p.Ala174Val) rs372044027 0.02377
NM_001267550.2(TTN):c.22786G>C (p.Asp7596His) rs72648970 0.02369
NM_000214.3(JAG1):c.924C>T (p.Asn308=) rs45575136 0.02367
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu) rs13021201 0.02363
NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser) rs113337987 0.02355
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=) rs73036398 0.02352
NM_001035.3(RYR2):c.9449+8T>A rs60777199 0.02348
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_133379.5(TTN):c.13476C>T (p.Asp4492=) rs72648904 0.02326
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_182914.3(SYNE2):c.12626T>C (p.Ile4209Thr) rs61747118 0.02309
NM_001378183.1(PIEZO2):c.4203C>G (p.His1401Gln) rs79261438 0.02303
NM_002354.3(EPCAM):c.859-7C>T rs72882786 0.02290
NM_182914.3(SYNE2):c.13254C>A (p.Asn4418Lys) rs36021513 0.02290
NM_001204.7(BMPR2):c.2324G>A (p.Ser775Asn) rs2228545 0.02286
NM_000426.4(LAMA2):c.8028T>C (p.Asn2676=) rs35313209 0.02285
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914 0.02271
NM_001365536.1(SCN9A):c.3802-8T>C rs76550960 0.02262
NM_080425.4(GNAS):c.1127C>T (p.Pro376Leu) rs61749697 0.02257
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=) rs35534817 0.02253
NM_000540.3(RYR1):c.5622A>G (p.Glu1874=) rs35021937 0.02251
NM_020812.4(DOCK6):c.4895C>T (p.Ala1632Val) rs117328686 0.02223
NM_133378.4(TTN):c.93062-10T>C rs202214630 0.02222
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=) rs11551373 0.02216
NM_020778.5(ALPK3):c.1199A>G (p.Gln400Arg) rs55702300 0.02213
NM_001365536.1(SCN9A):c.3362G>A (p.Arg1121Gln) rs74401238 0.02210
NM_001077365.2(POMT1):c.1692G>A (p.Arg564=) rs34954751 0.02208
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys) rs1140064 0.02197
NM_000426.4(LAMA2):c.8528A>G (p.Asn2843Ser) rs73599293 0.02196
NM_002470.4(MYH3):c.3008C>T (p.Ala1003Val) rs34088014 0.02195
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279 0.02191
NM_001267550.2(TTN):c.41508T>C (p.Ala13836=) rs55847232 0.02188
NM_016203.4(PRKAG2):c.59G>T (p.Ser20Ile) rs116605521 0.02188
NM_001267550.2(TTN):c.45738T>C (p.Ala15246=) rs2303829 0.02187
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_002470.4(MYH3):c.4155A>G (p.Glu1385=) rs58343499 0.02173
NM_000051.4(ATM):c.2639-17G>T rs2234994 0.02161
NM_001267550.2(TTN):c.15717G>A (p.Thr5239=) rs72648932 0.02158
NM_182961.4(SYNE1):c.2527C>T (p.Arg843Cys) rs34610829 0.02158
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) rs3092856 0.02156
NM_182961.4(SYNE1):c.11621A>C (p.Lys3874Thr) rs13210127 0.02151
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=) rs35445420 0.02143
NM_002470.4(MYH3):c.3938C>T (p.Thr1313Ile) rs35230241 0.02138
NM_024408.4(NOTCH2):c.6421C>T (p.Leu2141=) rs3795666 0.02137
NM_182961.4(SYNE1):c.3960A>G (p.Thr1320=) rs138705766 0.02134
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile) rs55675869 0.02132
NM_001927.4(DES):c.1026C>T (p.Asn342=) rs61731508 0.02125
NM_001232.4(CASQ2):c.1014+9C>T rs77775029 0.02121
NM_025137.4(SPG11):c.6754+19A>G rs116635875 0.02121
NM_001232.4(CASQ2):c.1005T>C (p.Asn335=) rs28730712 0.02116
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=) rs56034831 0.02114
NM_024079.5(ALG8):c.1039-5T>C rs112211908 0.02114
NM_001267550.2(TTN):c.12117C>T (p.Pro4039=) rs55895721 0.02109
NM_001267550.2(TTN):c.67635T>C (p.Val22545=) rs2288570 0.02106
NM_015046.7(SETX):c.498+20G>A rs73659013 0.02106
NM_020433.5(JPH2):c.1289-7C>T rs116986535 0.02105
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797 0.02093
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285 0.02088
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg) rs2288563 0.02080
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) rs2303607 0.02075
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_001267550.2(TTN):c.51684G>A (p.Ala17228=) rs2288566 0.02055
NM_001848.3(COL6A1):c.2736C>T (p.Asp912=) rs13879 0.02053
NM_006231.4(POLE):c.4290+5C>T rs5744936 0.02053
NM_002890.3(RASA1):c.296C>T (p.Ala99Val) rs111840875 0.02050
NM_001723.7(DST):c.3809A>G (p.Lys1270Arg) rs35497571 0.02037
NM_001267550.2(TTN):c.86811A>G (p.Val28937=) rs55972010 0.02012
NM_000179.3(MSH6):c.2253T>C (p.Asn751=) rs2020913 0.02003
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=) rs11694623 0.01999
NM_001267550.2(TTN):c.87669T>C (p.His29223=) rs72648229 0.01997
NM_001267550.2(TTN):c.87087T>C (p.Leu29029=) rs12621078 0.01996
NM_001035.3(RYR2):c.11557+19C>T rs113408406 0.01994
NM_005866.4(SIGMAR1):c.153G>A (p.Gly51=) rs12115733 0.01994
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.91852+8T>A rs56145100 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.77279A>G (p.Asn25760Ser) rs3813246 0.01989
NM_001267550.2(TTN):c.80799C>A (p.Thr26933=) rs3813247 0.01986
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.95553C>T (p.Ser31851=) rs72648260 0.01980
NM_001267550.2(TTN):c.81855C>T (p.Ile27285=) rs56214710 0.01979
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
NM_182914.3(SYNE2):c.17556+4T>C rs2297301 0.01974
NM_001927.4(DES):c.-30_-18dup rs794728983 0.01968
NM_004369.4(COL6A3):c.7086A>C (p.Gly2362=) rs35902696 0.01962
NM_001365951.3(KIF1B):c.2115+6360G>T rs41274458 0.01961
NM_001267550.2(TTN):c.18903C>T (p.Thr6301=) rs72648950 0.01956
NM_001927.4(DES):c.372G>A (p.Glu124=) rs34365369 0.01950
NM_001037.5(SCN1B):c.501T>C (p.Ile167=) rs16969930 0.01942
NM_000426.4(LAMA2):c.4750G>A (p.Gly1584Ser) rs117781224 0.01941
NM_000384.3(APOB):c.9004C>T (p.Leu3002=) rs12713600 0.01938
NM_022489.4(INF2):c.3478G>A (p.Gly1160Ser) rs9672065 0.01930
NM_005045.4(RELN):c.7110T>C (p.Val2370=) rs362746 0.01926
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser) rs72650006 0.01917
NM_201384.3(PLEC):c.342+13G>A rs115664009 0.01917
NM_013266.4(CTNNA3):c.478T>A (p.Ser160Thr) rs61749223 0.01916
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val) rs35997569 0.01914
NM_133379.5(TTN):c.13869T>G (p.Ser4623=) rs72648906 0.01910
NM_032638.5(GATA2):c.1233G>A (p.Ala411=) rs34172218 0.01909
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145 0.01900
NM_001849.4(COL6A2):c.2160C>G (p.Arg720=) rs61735829 0.01898
NM_001142864.4(PIEZO1):c.4385G>A (p.Arg1462Gln) rs188337046 0.01884
NM_020812.4(DOCK6):c.2956-5C>T rs3810309 0.01873
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=) rs72648983 0.01872
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124 0.01865
NM_004082.5(DCTN1):c.2448A>G (p.Ala816=) rs1130484 0.01851
NM_014391.3(ANKRD1):c.346-15T>A rs11595794 0.01849
NM_015046.7(SETX):c.6106+14G>A rs73661157 0.01840
NM_032578.4(MYPN):c.2410G>A (p.Gly804Arg) rs62620248 0.01839
NM_020778.5(ALPK3):c.2177A>G (p.Gln726Arg) rs78778733 0.01836
NM_020778.5(ALPK3):c.2431G>A (p.Glu811Lys) rs35633849 0.01835
NM_182914.3(SYNE2):c.12122G>A (p.Arg4041His) rs17101661 0.01834
NM_001182.5(ALDH7A1):c.675C>T (p.Leu225=) rs57902950 0.01833
NM_001267550.2(TTN):c.49648+16T>C rs57677875 0.01831
NM_004369.4(COL6A3):c.6981A>G (p.Glu2327=) rs35993209 0.01827
NM_004369.4(COL6A3):c.3071-16G>A rs73998896 0.01822
NM_004369.4(COL6A3):c.8145A>G (p.Leu2715=) rs35763271 0.01816
NM_004369.4(COL6A3):c.7995A>C (p.Ala2665=) rs80193928 0.01815
NM_006514.4(SCN10A):c.3133C>A (p.Pro1045Thr) rs73062575 0.01804
NM_001267550.2(TTN):c.10850C>T (p.Ser3617Phe) rs57389274 0.01798
NM_001848.3(COL6A1):c.1957-5C>T rs78224483 0.01793
NM_002303.6(LEPR):c.1285+20G>A rs13306522 0.01792
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.22611T>C (p.His7537=) rs16866469 0.01765
NM_001567.4(INPPL1):c.1894C>A (p.Leu632Ile) rs61749195 0.01759
NM_017636.4(TRPM4):c.3641-19C>G rs7256050 0.01753
NM_020778.5(ALPK3):c.4064C>A (p.Ala1355Asp) rs34775428 0.01753
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_000426.4(LAMA2):c.1491T>C (p.Cys497=) rs2306220 0.01733
NM_001035.3(RYR2):c.14421C>T (p.Asp4807=) rs75206601 0.01733
NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile) rs61340537 0.01730
NM_000426.4(LAMA2):c.8124T>A (p.Gly2708=) rs34997144 0.01727
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_003476.5(CSRP3):c.312C>G (p.Thr104=) rs45582433 0.01721
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_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174 0.01708
NM_182961.4(SYNE1):c.20571A>T (p.Ser6857=) rs34905593 0.01683
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile) rs72647851 0.01678
NM_004006.3(DMD):c.832-17C>A rs72470514 0.01678
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys) rs77697105 0.01678
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=) rs56270948 0.01676
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_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619 0.01643
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=) rs62145939 0.01642
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly) rs17853166 0.01640
NM_001171.6(ABCC6):c.2171G>A (p.Arg724Lys) rs58073789 0.01638
NM_004360.5(CDH1):c.2634C>T (p.Gly878=) rs2229044 0.01638
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_033337.3(CAV3):c.171G>A (p.Val57=) rs61147808 0.01628
NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val) rs11568438 0.01617
NM_001145809.2(MYH14):c.483G>A (p.Met161Ile) rs34773557 0.01615
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe) rs33917087 0.01611
NM_053274.3(GLMN):c.977+7T>A rs61758979 0.01597
NM_000540.3(RYR1):c.11547G>A (p.Gln3849=) rs142518033 0.01592
NM_002230.4(JUP):c.867C>T (p.Thr289=) rs2230407 0.01591
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982 0.01591
NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920 0.01583
NM_001267550.2(TTN):c.62178T>C (p.Thr20726=) rs72646847 0.01577
NM_003737.4(DCHS1):c.6272G>C (p.Arg2091Thr) rs2659874 0.01569
NM_001267550.2(TTN):c.4246C>T (p.Arg1416Cys) rs72647875 0.01559
NM_006073.4(TRDN):c.1620A>G (p.Ile540Met) rs7771303 0.01556
NM_000048.4(ASL):c.718+14A>T rs117035302 0.01554
NM_007078.3(LDB3):c.609G>A (p.Ser203=) rs45531131 0.01554
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=) rs6725673 0.01548
NM_001378454.1(ALMS1):c.5359A>G (p.Asn1787Asp) rs45608038 0.01548
NM_001105206.3(LAMA4):c.4646A>G (p.Asn1549Ser) rs12110554 0.01544
NM_000051.4(ATM):c.2193C>T (p.Tyr731=) rs2229019 0.01543
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr) rs744427 0.01542
NM_005912.3(MC4R):c.307G>A (p.Val103Ile) rs2229616 0.01533
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_001267550.2(TTN):c.52706-17A>G rs72646807 0.01524
NM_001458.5(FLNC):c.8121T>C (p.Ile2707=) rs28437296 0.01520
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=) rs66523653 0.01518
NM_001171.6(ABCC6):c.3507-3C>T rs41278172 0.01517
NM_001458.5(FLNC):c.1374C>T (p.Pro458=) rs115140972 0.01514
NM_004006.3(DMD):c.832-18C>G rs72470515 0.01505
NM_001267550.2(TTN):c.65743C>A (p.Gln21915Lys) rs62618736 0.01503
NM_023110.3(FGFR1):c.2187-6C>T rs4647904 0.01503
NM_000271.5(NPC1):c.2514+6C>T rs73392120 0.01501
NM_001291303.3(FAT4):c.1101A>G (p.Val367=) rs57692448 0.01498
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892 0.01492
NM_005045.4(RELN):c.2932A>G (p.Thr978Ala) rs3025962 0.01491
NM_003560.4(PLA2G6):c.172G>A (p.Val58Ile) rs11570605 0.01488
NM_207346.3(TSEN54):c.624-9G>A rs138719855 0.01485
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489 0.01481
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_005573.4(LMNB1):c.1502C>T (p.Ala501Val) rs36105360 0.01478
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys) rs79926414 0.01477
NM_024079.5(ALG8):c.803G>A (p.Arg268Gln) rs61995925 0.01476
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) rs74874677 0.01472
NM_201384.3(PLEC):c.1706G>A (p.Arg569Gln) rs3135103 0.01472
NM_001267550.2(TTN):c.40141+7G>A rs77960621 0.01470
NM_013254.4(TBK1):c.1391T>C (p.Val464Ala) rs35635889 0.01470
NM_001458.5(FLNC):c.8118C>T (p.Leu2706=) rs28379666 0.01465
NM_005957.5(MTHFR):c.1958C>T (p.Thr653Met) rs35737219 0.01462
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His) rs56307213 0.01455
NM_201384.3(PLEC):c.13205C>T (p.Thr4402Met) rs113513807 0.01455
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353 0.01449
NM_004826.4(ECEL1):c.1267G>C (p.Glu423Gln) rs41265123 0.01449
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=) rs7140196 0.01445
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937 0.01445
NM_001276345.2(TNNT2):c.163+12G>A rs45580032 0.01441
NM_001374353.1(GLI2):c.963C>G (p.Pro321=) rs149894186 0.01440
NM_021971.4(GMPPB):c.376C>G (p.His126Asp) rs34345884 0.01439
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097 0.01438
NM_001114753.3(ENG):c.1794T>C (p.Gly598=) rs41358947 0.01435
NM_000447.3(PSEN2):c.185G>A (p.Arg62His) rs58973334 0.01433
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val) rs16866391 0.01426
NM_001267550.2(TTN):c.3993C>T (p.Ile1331=) rs55757622 0.01419
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781 0.01418
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys) rs5745066 0.01416
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_004523.4(KIF11):c.3126G>C (p.Leu1042Phe) rs34417963 0.01412
NM_181882.3(PRX):c.731C>T (p.Ala244Val) rs118071705 0.01410
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076 0.01409
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=) rs2303836 0.01401
NM_002471.4(MYH6):c.3979-7del rs397516766 0.01401
NM_000026.4(ADSL):c.440A>T (p.Lys147Met) rs11089991 0.01397
NM_000051.4(ATM):c.6095+15T>C rs3212321 0.01395
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01393
NM_000051.4(ATM):c.2685A>G (p.Leu895=) rs3218687 0.01393
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr) rs36043230 0.01390
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_004369.4(COL6A3):c.9411T>C (p.Cys3137=) rs112290343 0.01385
NM_000179.3(MSH6):c.1164C>T (p.His388=) rs55708305 0.01384
NM_000048.4(ASL):c.1164C>T (p.His388=) rs75300185 0.01380
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu) rs6262 0.01372
NM_005045.4(RELN):c.9903C>T (p.Tyr3301=) rs73714404 0.01371
NM_003737.4(DCHS1):c.3546G>A (p.Gln1182=) rs138559226 0.01370
NM_000179.3(MSH6):c.2272C>T (p.Leu758=) rs56371757 0.01363
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys) rs56324595 0.01363
NM_000335.5(SCN5A):c.1302C>T (p.Phe434=) rs41313699 0.01360
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435 0.01358
NM_001267550.2(TTN):c.10700G>A (p.Ser3567Asn) rs72955213 0.01357
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly) rs141736123 0.01357
NM_007126.5(VCP):c.18-5T>C rs114256093 0.01353
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile) rs16866457 0.01351
NM_178138.6(LHX3):c.454+3C>T rs34356735 0.01349
NM_001040108.2(MLH3):c.691A>C (p.Lys231Gln) rs28756981 0.01348
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
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_006514.4(SCN10A):c.618A>G (p.Ile206Met) rs74717885 0.01345
NM_002471.4(MYH6):c.399G>A (p.Val133=) rs78891557 0.01343
NM_004415.4(DSP):c.4773G>A (p.Arg1591=) rs28763968 0.01341
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val) rs55948748 0.01336
NM_022437.3(ABCG8):c.628G>A (p.Val210Met) rs9282574 0.01336
NM_133379.5(TTN):c.13608C>T (p.Ser4536=) rs72648905 0.01336
NM_001035.3(RYR2):c.6928+4G>A rs79862521 0.01335
NM_004369.4(COL6A3):c.8822C>T (p.Ala2941Val) rs11903206 0.01334
NM_182961.4(SYNE1):c.22809C>T (p.Leu7603=) rs34630198 0.01334
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876 0.01322
NM_006231.4(POLE):c.91G>T (p.Ala31Ser) rs34047482 0.01320
NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln) rs17721059 0.01316
NM_000466.3(PEX1):c.1671-7T>C rs74519968 0.01312
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816 0.01311
NM_001267550.2(TTN):c.2949C>T (p.Ile983=) rs56310516 0.01308
NM_000263.4(NAGLU):c.764+19C>G rs77738617 0.01306
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys) rs72646869 0.01305
NM_000168.6(GLI3):c.3083G>T (p.Ser1028Ile) rs79049330 0.01304
NM_001291303.3(FAT4):c.14135C>G (p.Ser4712Cys) rs147662558 0.01304
NM_001289808.2(CRYAB):c.165G>A (p.Leu55=) rs2228387 0.01303
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr) rs78183930 0.01302
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320 0.01300
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met) rs16866475 0.01294
NM_001035.3(RYR2):c.11988C>T (p.Gly3996=) rs56226196 0.01290
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val) rs3759873 0.01282
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743 0.01280
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572 0.01280
NM_020247.5(COQ8A):c.63G>A (p.Ala21=) rs11549709 0.01280
NM_025137.4(SPG11):c.6330G>A (p.Gly2110=) rs35932349 0.01279
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01276
NM_000053.4(ATP7B):c.1707+9T>C rs114449708 0.01274
NM_025137.4(SPG11):c.1347C>T (p.Thr449=) rs3759874 0.01269
NM_001267550.2(TTN):c.23001G>A (p.Thr7667=) rs16866467 0.01263
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val) rs72647877 0.01259
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg) rs76116949 0.01253
NM_000426.4(LAMA2):c.1798G>A (p.Gly600Arg) rs36044314 0.01250
NM_001939.3(DRP2):c.1454+5G>A rs138775194 0.01247
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_000540.3(RYR1):c.12012+19T>C rs181590606 0.01243
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys) rs116676813 0.01242
NM_000303.3(PMM2):c.324G>A (p.Ala108=) rs62031146 0.01239
NM_006218.4(PIK3CA):c.3075C>T (p.Thr1025=) rs17849079 0.01239
NM_005045.4(RELN):c.6671+8T>C rs362758 0.01237
NM_182961.4(SYNE1):c.10598G>A (p.Arg3533His) rs145911138 0.01237
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu) rs79708848 0.01235
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_001943.5(DSG2):c.217-5G>T rs80073511 0.01232
NM_001458.5(FLNC):c.6004+19G>A rs12530507 0.01231
NM_020451.3(SELENON):c.409A>G (p.Thr137Ala) rs35019869 0.01231
NM_002755.4(MAP2K1):c.711G>A (p.Gly237=) rs17586159 0.01226
NM_020297.4(ABCC9):c.3321C>T (p.Ile1107=) rs35404804 0.01226
NM_004082.5(DCTN1):c.34-11G>T rs73948789 0.01216
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_000238.4(KCNH2):c.1332G>A (p.Glu444=) rs9770044 0.01204
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725 0.01203
NM_000271.5(NPC1):c.3246-20G>A rs6507717 0.01199
NM_182914.3(SYNE2):c.15794T>C (p.Val5265Ala) rs142660236 0.01196
NM_001267550.2(TTN):c.1003G>A (p.Val335Met) rs72647846 0.01195
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913 0.01192
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=) rs55977045 0.01192
NM_001276345.2(TNNT2):c.42-20G>A rs45561443 0.01192
NM_145046.5(CALR3):c.861G>A (p.Thr287=) rs118131979 0.01186
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.69585C>T (p.Ser23195=) rs67041405 0.01183
NM_001848.3(COL6A1):c.859-20C>T rs78884675 0.01182
NM_005045.4(RELN):c.3839G>A (p.Gly1280Glu) rs55689103 0.01176
NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn) rs151315725 0.01175
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg) rs17355460 0.01172
NM_001267550.2(TTN):c.1398+8C>T rs72647848 0.01171
NM_001368894.2(PAX6):c.369G>A (p.Glu123=) rs114384476 0.01168
NM_001848.3(COL6A1):c.958-17G>A rs79364611 0.01165
NM_004415.4(DSP):c.3963G>A (p.Gln1321=) rs61731476 0.01161
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=) rs116091486 0.01159
NM_000257.4(MYH7):c.3972+15C>T rs3729820 0.01159
NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro) rs62621206 0.01151
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01150
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr) rs55880440 0.01150
NM_004369.4(COL6A3):c.768C>T (p.Val256=) rs79606264 0.01148
NM_001267550.2(TTN):c.47400G>A (p.Lys15800=) rs114145817 0.01143
NM_001040108.2(MLH3):c.1258G>A (p.Val420Ile) rs28756982 0.01142
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208 0.01141
NM_001267550.2(TTN):c.36489G>A (p.Ala12163=) rs115493456 0.01140
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298 0.01139
NM_005045.4(RELN):c.9714C>T (p.His3238=) rs78218774 0.01139
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148 0.01138
NM_006231.4(POLE):c.2174-8G>A rs117409343 0.01137
NM_001130823.3(DNMT1):c.206G>A (p.Arg69His) rs61750053 0.01134
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809 0.01131
NM_017636.4(TRPM4):c.3082C>T (p.Leu1028=) rs79286201 0.01125
NM_001035.3(RYR2):c.10230+20T>C rs74323916 0.01122
NM_001171.6(ABCC6):c.4208+9G>A rs58760581 0.01119
NM_080425.4(GNAS):c.1376C>G (p.Pro459Arg) rs148033592 0.01117
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=) rs72648935 0.01116
NM_002234.4(KCNA5):c.751G>A (p.Ala251Thr) rs12720442 0.01115
NM_000051.4(ATM):c.6572+12G>T rs3218677 0.01112
NM_017763.6(RNF43):c.2280G>A (p.Pro760=) rs61746279 0.01112
NM_000053.4(ATP7B):c.3366A>G (p.Ala1122=) rs59120265 0.01110
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) rs55958233 0.01103
NM_001943.5(DSG2):c.3243C>T (p.Val1081=) rs11542379 0.01097
NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu) rs77853750 0.01096
NM_001365951.3(KIF1B):c.4798G>A (p.Val1600Met) rs77172218 0.01096
NM_213622.4(STAMBP):c.921G>T (p.Gly307=) rs77000353 0.01095
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met) rs55865284 0.01093
NM_001035.3(RYR2):c.6440+20C>T rs115755128 0.01092
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln) rs3219497 0.01092
NM_001363711.2(DUOX2):c.908C>G (p.Pro303Arg) rs151261408 0.01090
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084 0.01088
NM_000051.4(ATM):c.735C>T (p.Val245=) rs3218674 0.01085
NM_004369.4(COL6A3):c.4727G>A (p.Arg1576Gln) rs61729839 0.01085
NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser) rs67254537 0.01080
NM_024301.5(FKRP):c.585C>T (p.Asp195=) rs75079578 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_001555.5(IGSF1):c.1184T>G (p.Leu395Arg) rs139140137 0.01076
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=) rs56375087 0.01075
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile) rs55842557 0.01073
NM_130797.4(DPP6):c.227A>T (p.Asp76Val) rs572667303 0.01073
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=) rs114771537 0.01071
NM_001267550.2(TTN):c.11019C>T (p.Cys3673=) rs72955212 0.01069
NM_001276345.2(TNNT2):c.294+7G>A rs45490292 0.01066
NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=) rs41292143 0.01062
NM_020778.5(ALPK3):c.401G>A (p.Arg134His) rs34407151 0.01062
NM_004369.4(COL6A3):c.2419G>A (p.Ala807Thr) rs113155945 0.01061
NM_013266.4(CTNNA3):c.1603C>T (p.Arg535Cys) rs41274090 0.01060
NM_032578.4(MYPN):c.2447C>T (p.Pro816Leu) rs111965755 0.01059
NM_005633.4(SOS1):c.1203-20T>C rs112906251 0.01058
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) rs36039758 0.01056
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_001040108.2(MLH3):c.2896T>C (p.Ser966Pro) rs17782839 0.01052
NM_001291303.3(FAT4):c.13605G>A (p.Lys4535=) rs75469760 0.01048
NM_002471.4(MYH6):c.2946G>A (p.Glu982=) rs145274612 0.01048
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) rs41289902 0.01045
NM_001267550.2(TTN):c.4347A>G (p.Ser1449=) rs719202 0.01042
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
NM_001035.3(RYR2):c.11880+13_11880+16del rs199562036 0.01032
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=) rs73036373 0.01031
NM_001458.5(FLNC):c.2266-14G>C rs75612085 0.01030
NM_005477.3(HCN4):c.1683C>A (p.Gly561=) rs62641690 0.01030
NM_001035.3(RYR2):c.2397-6C>T rs78165942 0.01029
NM_012186.3(FOXE3):c.423G>A (p.Lys141=) rs145081583 0.01025
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_007186.6(CEP250):c.3967G>A (p.Ala1323Thr) rs114063154 0.01012
NM_014243.3(ADAMTS3):c.1754A>G (p.Asn585Ser) rs150270324 0.01011
NM_004006.3(DMD):c.3734C>T (p.Thr1245Ile) rs1800269 0.01009
NM_001382430.1(AKT1):c.1251C>T (p.Tyr417=) rs139297659 0.01008
NM_001848.3(COL6A1):c.2441A>G (p.Lys814Arg) rs11553518 0.01008
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_002335.4(LRP5):c.4574C>T (p.Ala1525Val) rs1127291 0.01003
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) rs140740776 0.01003
NM_032119.4(ADGRV1):c.3559A>G (p.Ile1187Val) rs16868935 0.01001
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046 0.01000
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe) rs140118273 0.00997
NM_001555.5(IGSF1):c.1796A>C (p.Asn599Thr) rs146462069 0.00995
NM_144670.6(A2ML1):c.2252C>T (p.Ala751Val) rs61741216 0.00991
NM_001035.3(RYR2):c.13977G>A (p.Glu4659=) rs78369334 0.00989
NM_005477.3(HCN4):c.3337A>G (p.Met1113Val) rs142735148 0.00983
NM_001849.4(COL6A2):c.1552C>T (p.Pro518Ser) rs141166141 0.00982
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549 0.00981
NM_001291303.3(FAT4):c.10810A>C (p.Ile3604Leu) rs76491994 0.00978
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln) rs34819099 0.00971
NM_001374353.1(GLI2):c.4003A>G (p.Met1335Val) rs149140724 0.00970
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys) rs12471771 0.00967
NM_000528.4(MAN2B1):c.2562C>G (p.Ala854=) rs10410289 0.00964
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn) rs114814747 0.00964
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139 0.00960
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) rs61734313 0.00959
NM_001130823.3(DNMT1):c.290A>G (p.His97Arg) rs16999593 0.00959
NM_020812.4(DOCK6):c.441G>C (p.Lys147Asn) rs34545822 0.00959
NM_001267550.2(TTN):c.17741-9A>G rs72648944 0.00958
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu) rs111347025 0.00958
NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu) rs1007211 0.00957
NM_032119.4(ADGRV1):c.1839+7G>A rs142011700 0.00957
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439 0.00956
NM_000791.4(DHFR):c.-416C>G rs2001675 0.00949
NM_022124.6(CDH23):c.7630T>C (p.Leu2544=) rs114819374 0.00947
NM_001035.3(RYR2):c.2204-7C>G rs147479514 0.00944
NM_001130987.2(DYSF):c.3757-12C>T rs114968209 0.00943
NM_014946.4(SPAST):c.879G>A (p.Pro293=) rs145264166 0.00943
NM_201384.3(PLEC):c.12360G>A (p.Pro4120=) rs146781600 0.00943
NM_007078.3(LDB3):c.1506G>A (p.Pro502=) rs45579241 0.00941
NM_005957.5(MTHFR):c.1476G>A (p.Pro492=) rs35653697 0.00937
NM_020297.4(ABCC9):c.*19T>C rs114906131 0.00935
NM_182961.4(SYNE1):c.12061T>C (p.Cys4021Arg) rs111449472 0.00935
NM_000165.5(GJA1):c.758C>T (p.Ala253Val) rs17653265 0.00930
NM_002471.4(MYH6):c.3627C>T (p.Ile1209=) rs147871745 0.00930
NM_002471.4(MYH6):c.3480C>T (p.Ser1160=) rs373345984 0.00929
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_000249.4(MLH1):c.1732-19T>A rs77120160 0.00923
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_004826.4(ECEL1):c.967-7C>G rs76735188 0.00917
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=) rs62178963 0.00915
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052 0.00910
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu) rs72629787 0.00909
NM_004826.4(ECEL1):c.426C>A (p.Asp142Glu) rs144928688 0.00909
NM_182961.4(SYNE1):c.3804G>A (p.Leu1268=) rs139524103 0.00909
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_182961.4(SYNE1):c.9165C>A (p.Ser3055=) rs117020413 0.00908
NM_022124.6(CDH23):c.1449+74G>T rs115450602 0.00906
NM_001040108.2(MLH3):c.8A>G (p.Lys3Arg) rs114829239 0.00905
NM_003235.5(TG):c.3187C>A (p.Leu1063Met) rs11992497 0.00903
NM_003737.4(DCHS1):c.5697A>G (p.Ala1899=) rs11040936 0.00900
NM_006073.4(TRDN):c.403G>A (p.Glu135Lys) rs192289289 0.00900
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991 0.00898
NM_024301.5(FKRP):c.249C>T (p.Ala83=) rs149030303 0.00897
NM_001374353.1(GLI2):c.-7G>A rs112131051 0.00890
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr) rs11570680 0.00890
NM_000548.5(TSC2):c.4990-7C>T rs45457095 0.00888
NM_001001957.2(OR2W3):c.595G>A (p.Val199Ile) rs61756679 0.00888
NM_021942.6(TRAPPC11):c.145G>C (p.Val49Leu) rs141909783 0.00888
NM_017780.4(CHD7):c.657C>T (p.Gly219=) rs113483301 0.00881
NM_001114753.3(ENG):c.1374A>G (p.Pro458=) rs34828244 0.00879
NM_198428.3(BBS9):c.555C>T (p.Ala185=) rs35440033 0.00871
NM_018979.4(WNK1):c.5468C>T (p.Pro1823Leu) rs17755373 0.00870
NM_012186.3(FOXE3):c.16G>A (p.Asp6Asn) rs765169217 0.00868
NM_004183.4(BEST1):c.1474G>A (p.Val492Ile) rs111326315 0.00867
NM_000426.4(LAMA2):c.8548-10T>C rs113644365 0.00865
NM_001276345.2(TNNT2):c.68-8A>G rs115805892 0.00864
NM_001918.5(DBT):c.724T>C (p.Ser242Pro) rs146249007 0.00864
NM_001244008.2(KIF1A):c.4812C>A (p.Thr1604=) rs76974316 0.00862
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823 0.00861
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123 0.00859
NM_006757.4(TNNT3):c.367-9T>C rs76471485 0.00859
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala) rs34799090 0.00854
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541 0.00853
NM_001171.6(ABCC6):c.3289C>A (p.Leu1097Ile) rs60707953 0.00849
NM_001142864.4(PIEZO1):c.998G>A (p.Arg333His) rs139099911 0.00845
NM_006005.3(WFS1):c.930A>G (p.Ala310=) rs115561278 0.00845
NM_025137.4(SPG11):c.808G>A (p.Val270Ile) rs80338868 0.00845
NM_001458.5(FLNC):c.2390-14C>T rs71581921 0.00843
NM_000384.3(APOB):c.2604+15G>C rs72653066 0.00842
NM_001195248.2(APTX):c.318C>T (p.Asn106=) rs79254654 0.00842
NM_001458.5(FLNC):c.6771A>G (p.Pro2257=) rs34422412 0.00842
NM_005544.3(IRS1):c.2452G>C (p.Gly818Arg) rs41265094 0.00841
NM_024334.3(TMEM43):c.222C>T (p.Pro74=) rs34099410 0.00841
NM_182961.4(SYNE1):c.10022T>C (p.Val3341Ala) rs138693624 0.00841
NM_000033.4(ABCD1):c.901-16C>T rs41302176 0.00840
NM_001177693.2(ARHGEF28):c.267G>A (p.Val89=) rs17552682 0.00840
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) rs115658240 0.00835
NM_001382391.1(CSPP1):c.1977T>C (p.Thr659=) rs114177619 0.00835
NM_006269.2(RP1):c.2255C>T (p.Thr752Met) rs28399531 0.00832
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=) rs2754155 0.00831
NM_006269.2(RP1):c.2991T>C (p.Asn997=) rs112667487 0.00829
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys) rs55861600 0.00828
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=) rs72646893 0.00826
NM_015459.5(ATL3):c.1434A>G (p.Gly478=) rs189119869 0.00825
NM_015909.4(NBAS):c.3755C>A (p.Ser1252Tyr) rs114866170 0.00825
NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr) rs36210417 0.00822
NM_004715.5(CTDP1):c.213G>C (p.Gly71=) rs201234471 0.00821
NM_004385.5(VCAN):c.7419C>T (p.Ser2473=) rs61754536 0.00819
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317 0.00818
NM_021620.4(PRDM13):c.609C>T (p.Ser203=) rs183537963 0.00817
NM_174936.4(PCSK9):c.141C>T (p.Ser47=) rs28385701 0.00815
NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys) rs35062203 0.00814
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741 0.00813
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe) rs114152068 0.00810
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301 0.00809
NM_006086.4(TUBB3):c.1215G>A (p.Glu405=) rs141064323 0.00809
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=) rs55806007 0.00808
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596 0.00808
NM_001034853.2(RPGR):c.1367A>G (p.Gln456Arg) rs144635565 0.00806
NM_001297.5(CNGB1):c.1382C>T (p.Thr461Met) rs147593839 0.00806
NM_133379.5(TTN):c.14244T>C (p.Leu4748=) rs139669372 0.00806
NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys) rs112822975 0.00803
NM_006086.4(TUBB3):c.702C>T (p.Ser234=) rs147245174 0.00803
NM_001291303.3(FAT4):c.8544C>T (p.Ser2848=) rs139132509 0.00802
NM_020812.4(DOCK6):c.3913C>T (p.Arg1305Cys) rs112911897 0.00801
NM_006033.4(LIPG):c.1187A>G (p.Asn396Ser) rs77960347 0.00800
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=) rs56310931 0.00799
NM_022773.4(LMF1):c.1292C>A (p.Ala431Asp) rs115416993 0.00797
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_000513.2(OPN1MW):c.194T>C (p.Ile65Thr) rs1223726997 0.00796
NM_001372106.1(DNAH10):c.6040G>A (p.Val2014Met) rs75173589 0.00796
NM_001379500.1(COL18A1):c.2173G>A (p.Val725Met) rs116111018 0.00795
NM_000466.3(PEX1):c.2901G>A (p.Gln967=) rs111704518 0.00792
NM_005689.4(ABCB6):c.1562C>G (p.Thr521Ser) rs149363094 0.00792
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879 0.00790
NM_001276345.2(TNNT2):c.474G>C (p.Arg158=) rs35914325 0.00788
NM_012293.3(PXDN):c.4088G>A (p.Gly1363Glu) rs61747868 0.00788
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu) rs56219475 0.00787
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_001171.6(ABCC6):c.4254G>A (p.Arg1418=) rs58668703 0.00784
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_080425.4(GNAS):c.525T>C (p.Ser175=) rs114255910 0.00782
NM_170707.4(LMNA):c.438C>T (p.Ala146=) rs80356805 0.00782
NM_001374736.1(DST):c.20997G>A (p.Leu6999=) rs187652380 0.00781
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr) rs138787974 0.00778
NM_001142864.4(PIEZO1):c.1527C>A (p.Thr509=) rs76834910 0.00776
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=) rs74321406 0.00774
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871 0.00774
NM_001040108.2(MLH3):c.1870G>C (p.Glu624Gln) rs28756986 0.00772
NM_001550.4(IFRD1):c.213T>A (p.Leu71=) rs117086064 0.00772
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054 0.00771
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911 0.00770
NM_006218.4(PIK3CA):c.363C>T (p.Ile121=) rs115746478 0.00769
NM_020297.4(ABCC9):c.2200G>A (p.Val734Ile) rs61688134 0.00769
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00763
NM_006343.3(MERTK):c.102A>G (p.Leu34=) rs143215350 0.00763
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00760
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) rs56177950 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_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_001267550.2(TTN):c.42219C>T (p.Phe14073=) rs150612172 0.00757
NM_020381.4(PDSS2):c.11G>C (p.Arg4Pro) rs3734676 0.00757
NM_000186.4(CFH):c.1159+19T>G rs35695425 0.00756
NM_020381.4(PDSS2):c.7T>C (p.Phe3Leu) rs3734675 0.00756
NM_005138.3(SCO2):c.763C>A (p.Arg255=) rs112793292 0.00755
NM_021076.4(NEFH):c.1740C>T (p.Ser580=) rs114263951 0.00755
NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu) rs143414291 0.00754
NM_002230.4(JUP):c.1563A>G (p.Ala521=) rs149926974 0.00753
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val) rs143907597 0.00750
NM_001142864.4(PIEZO1):c.5195C>T (p.Thr1732Met) rs139051768 0.00749
NM_001005361.3(DNM2):c.235+6A>G rs113192269 0.00748
NM_014391.3(ANKRD1):c.348G>A (p.Thr116=) rs137914723 0.00748
NM_018979.4(WNK1):c.684C>T (p.Gly228=) rs72647374 0.00748
NM_001177693.2(ARHGEF28):c.4161+16T>C rs200381893 0.00742
NM_006432.5(NPC2):c.442-4A>C rs114950106 0.00742
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_080425.4(GNAS):c.500A>G (p.Asp167Gly) rs61749695 0.00734
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) rs2228447 0.00731
NM_198525.3(KIF7):c.3999G>C (p.Pro1333=) rs137993810 0.00730
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927 0.00729
NM_002471.4(MYH6):c.4206C>T (p.Ala1402=) rs111638554 0.00728
NM_004085.4(TIMM8A):c.-6C>T rs180806413 0.00726
NM_001358921.2(COQ2):c.957C>T (p.Tyr319=) rs141431344 0.00725
NM_001844.5(COL2A1):c.708+8C>T rs41317893 0.00720
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met) rs77351975 0.00719
NM_001458.5(FLNC):c.6004+11G>A rs117653869 0.00719
NM_001267550.2(TTN):c.63026G>A (p.Arg21009Gln) rs72646851 0.00718
NM_001605.3(AARS1):c.2791G>A (p.Gly931Ser) rs149377346 0.00718
NM_002335.4(LRP5):c.687-8G>A rs190810239 0.00718
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855 0.00718
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys) rs141703710 0.00717
NM_006214.4(PHYH):c.678+15C>T rs140995522 0.00717
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_001244008.2(KIF1A):c.3852T>C (p.His1284=) rs184931664 0.00715
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681 0.00714
NM_001276270.2(MBD4):c.1073T>C (p.Ile358Thr) rs2307298 0.00713
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_001365088.1(SLC12A6):c.2925G>A (p.Val975=) rs112835706 0.00711
NM_015072.5(TTLL5):c.1773C>T (p.Val591=) rs61741261 0.00711
NM_001267550.2(TTN):c.50551+20C>T rs67636125 0.00708
NM_020812.4(DOCK6):c.1833-8T>A rs7252321 0.00708
NM_201378.4(PLEC):c.71-11718C>T rs190222339 0.00708
NM_002180.3(IGHMBP2):c.2782G>A (p.Glu928Lys) rs2275996 0.00707
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp) rs3218772 0.00706
NM_000038.6(APC):c.4326T>A (p.Pro1442=) rs67622085 0.00705
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) rs35593170 0.00704
NM_001267550.2(TTN):c.57462G>A (p.Gln19154=) rs72646832 0.00703
NM_001267550.2(TTN):c.57464G>A (p.Arg19155Lys) rs72646833 0.00702
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=) rs146902870 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_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn) rs17354992 0.00698
NM_001267550.2(TTN):c.39183T>A (p.Pro13061=) rs12474306 0.00697
NM_001267550.2(TTN):c.56529G>A (p.Thr18843=) rs72646827 0.00697
NM_206933.4(USH2A):c.10552G>A (p.Val3518Ile) rs75397806 0.00696
NM_001267550.2(TTN):c.32722+9G>A rs148231130 0.00695
NM_001555.5(IGSF1):c.2939T>C (p.Val980Ala) rs147496468 0.00694
NM_001927.4(DES):c.735+20C>T rs151226355 0.00694
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu) rs16962093 0.00694
NM_031443.4(CCM2):c.866G>A (p.Ser289Asn) rs2289366 0.00694
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=) rs16866423 0.00691
NM_003560.4(PLA2G6):c.2340C>T (p.Asn780=) rs138683183 0.00691
NM_014249.4(NR2E3):c.694G>A (p.Val232Ile) rs1805023 0.00690
NM_022124.6(CDH23):c.1134+22C>T rs115745871 0.00690
NM_003737.4(DCHS1):c.6479C>T (p.Thr2160Ile) rs113091644 0.00689
NM_001126049.2(KLLN):c.-956G>T rs34149102 0.00683
NM_001164665.2(KIAA1549):c.4716C>T (p.Ile1572=) rs28523576 0.00683
NM_001267550.2(TTN):c.45083-10A>G rs72677222 0.00683
NM_000320.3(QDPR):c.105+17G>A rs149373480 0.00682
NM_001148.6(ANK2):c.2377-8C>T rs139893914 0.00682
NM_001267550.2(TTN):c.99111T>C (p.Tyr33037=) rs77257306 0.00682
NM_004387.4(NKX2-5):c.861C>T (p.Ala287=) rs77612903 0.00681
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884 0.00677
NM_006204.4(PDE6C):c.1755G>T (p.Lys585Asn) rs45522236 0.00677
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510 0.00676
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289 0.00675
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937 0.00675
NM_000306.4(POU1F1):c.666-5G>A rs76296626 0.00674
NM_021625.5(TRPV4):c.2433G>C (p.Ser811=) rs34071623 0.00673
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044 0.00672
NM_000350.3(ABCA4):c.*10C>A rs145634012 0.00671
NM_001267550.2(TTN):c.81057T>C (p.Thr27019=) rs114908705 0.00671
NM_002691.4(POLD1):c.2546G>A (p.Arg849His) rs3218775 0.00670
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344 0.00668
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=) rs72648258 0.00667
NM_025103.4(IFT74):c.1735G>A (p.Val579Met) rs138591335 0.00667
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val) rs72648960 0.00666
NM_017636.4(TRPM4):c.301G>A (p.Ala101Thr) rs113984787 0.00662
NM_017636.4(TRPM4):c.306T>G (p.Val102=) rs111783027 0.00662
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg) rs12735723 0.00660
NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys) rs35924492 0.00660
NM_001035.3(RYR2):c.8448C>T (p.Asp2816=) rs144876996 0.00659
NM_015072.5(TTLL5):c.3544C>T (p.Leu1182=) rs143302131 0.00659
NM_000791.4(DHFR):c.-259C>T rs6151597 0.00658
NM_001146.5(ANGPT1):c.156C>A (p.Gly52=) rs148142982 0.00658
NM_014000.3(VCL):c.2801C>T (p.Ala934Val) rs16931179 0.00658
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802 0.00658
NM_024101.7(MLPH):c.333-10G>A rs192641134 0.00657
NM_001378615.1(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948 0.00656
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00655
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=) rs34562585 0.00654
NM_153240.5(NPHP3):c.1887+6G>A rs79113972 0.00654
NM_006073.4(TRDN):c.1538-13T>G rs55704802 0.00651
NM_001082971.2(DDC):c.436-12T>C rs144962948 0.00650
NM_001555.5(IGSF1):c.732G>A (p.Leu244=) rs147441841 0.00650
NM_006514.4(SCN10A):c.3087+15C>T rs140924179 0.00650
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn) rs36090425 0.00646
NM_032119.4(ADGRV1):c.10769+9A>G rs116184119 0.00645
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937 0.00644
NM_001849.4(COL6A2):c.2856G>A (p.Thr952=) rs138074469 0.00644
NM_004082.5(DCTN1):c.3529+5G>A rs72466494 0.00644
NM_001035.3(RYR2):c.576+7G>C rs10925392 0.00643
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys) rs28626194 0.00641
NM_002470.4(MYH3):c.3592G>A (p.Ala1198Thr) rs61735358 0.00641
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00640
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476 0.00640
NM_018319.4(TDP1):c.911G>A (p.Arg304Gln) rs34452707 0.00640
NM_003611.3(OFD1):c.714T>C (p.Tyr238=) rs139848884 0.00637
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_001267550.2(TTN):c.19383T>C (p.Asn6461=) rs76771282 0.00636
NM_001384732.1(CPLANE1):c.4134T>C (p.Pro1378=) rs79935028 0.00635
NM_133379.5(TTN):c.16508G>C (p.Ser5503Thr) rs16866489 0.00635
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly) rs146983095 0.00634
NM_015046.7(SETX):c.7905C>T (p.Ala2635=) rs112201716 0.00633
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988 0.00633
NM_003737.4(DCHS1):c.6792G>A (p.Thr2264=) rs116909245 0.00630
NM_024334.3(TMEM43):c.953C>T (p.Ala318Val) rs11924644 0.00629
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=) rs11915053 0.00629
NM_178857.6(RP1L1):c.4865G>A (p.Arg1622Gln) rs151260617 0.00629
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244 0.00625
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=) rs41312170 0.00625
NM_152384.3(BBS5):c.620G>A (p.Arg207His) rs35487251 0.00625
NM_000541.5(SAG):c.1091C>T (p.Pro364Leu) rs112613526 0.00622
NM_014874.4(MFN2):c.2113G>A (p.Val705Ile) rs142271930 0.00621
NM_014629.4(ARHGEF10):c.2812G>A (p.Val938Ile) rs61752020 0.00620
NM_007126.5(VCP):c.1092C>T (p.Asp364=) rs61752947 0.00619
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006 0.00618
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961 0.00618
NM_014845.6(FIG4):c.447-16G>T rs200890189 0.00618
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420 0.00615
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=) rs56181243 0.00615
NM_178857.6(RP1L1):c.420C>A (p.Gly140=) rs79465957 0.00615
NM_000081.4(LYST):c.10941-7C>A rs72761794 0.00614
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00613
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe) rs34618570 0.00613
NM_033629.6(TREX1):c.462T>C (p.Asp154=) rs3135944 0.00613
NM_002234.4(KCNA5):c.1733G>A (p.Arg578Lys) rs12720445 0.00612
NM_022124.6(CDH23):c.6990G>T (p.Leu2330=) rs111033495 0.00610
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His) rs185002960 0.00608
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328 0.00606
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_001035.3(RYR2):c.14299-12A>G rs41267519 0.00603
NM_024741.3(ZNF408):c.52+36G>C rs111794632 0.00603
NM_201384.3(PLEC):c.2961C>T (p.Ser987=) rs149932255 0.00603
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00601
NM_058246.4(DNAJB6):c.899-6C>T rs78337193 0.00601
NM_001267550.2(TTN):c.45350-13T>C rs113084617 0.00600
NM_002180.3(IGHMBP2):c.256+9G>A rs118015540 0.00600
NM_001142864.4(PIEZO1):c.7505A>G (p.Lys2502Arg) rs34830861 0.00599
NM_015102.5(NPHP4):c.1442-7C>T rs146078470 0.00599
NM_024334.3(TMEM43):c.1096G>A (p.Ala366Thr) rs36083134 0.00599
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr) rs114026724 0.00598
NM_001267550.2(TTN):c.36126A>C (p.Glu12042Asp) rs113231696 0.00597
NM_000440.3(PDE6A):c.908C>G (p.Ser303Cys) rs61733363 0.00596
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=) rs74318065 0.00596
NM_002764.4(PRPS1):c.477C>T (p.Ile159=) rs61752962 0.00596
NM_001267550.2(TTN):c.17312C>G (p.Thr5771Ser) rs16866477 0.00593
NM_001363118.2(SLC52A2):c.1089G>A (p.Pro363=) rs146292053 0.00593
NM_001349253.2(SCN11A):c.757C>T (p.Leu253=) rs36084747 0.00591
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile) rs148355156 0.00591
NM_133379.5(TTN):c.11006A>G (p.Asp3669Gly) rs72647896 0.00591
NM_001267550.2(TTN):c.88858C>T (p.Leu29620=) rs115070904 0.00590
NM_024422.6(DSC2):c.1719C>T (p.Asn573=) rs140167653 0.00590
NM_001384732.1(CPLANE1):c.8286C>T (p.Asp2762=) rs114126795 0.00589
NM_176824.3(BBS7):c.1505A>G (p.His502Arg) rs114718913 0.00589
NM_002109.6(HARS1):c.14C>A (p.Ala5Glu) rs78741041 0.00588
NM_003737.4(DCHS1):c.4470G>C (p.Ala1490=) rs548880262 0.00588
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val) rs34870424 0.00587
NM_001372044.2(SHANK3):c.2535G>A (p.Pro845=) rs117066889 0.00587
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_001267550.2(TTN):c.2270C>T (p.Pro757Leu) rs116307796 0.00586
NM_017780.4(CHD7):c.309G>A (p.Ser103=) rs115293759 0.00586
NM_001267550.2(TTN):c.17989G>A (p.Ala5997Thr) rs72648946 0.00585
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338 0.00584
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809 0.00583
NM_005751.5(AKAP9):c.9092A>G (p.Gln3031Arg) rs61757673 0.00583
NM_000466.3(PEX1):c.3720C>T (p.His1240=) rs34825053 0.00582
NM_021625.5(TRPV4):c.810G>A (p.Gly270=) rs147558344 0.00582
NM_000384.3(APOB):c.129G>C (p.Ala43=) rs12720850 0.00580
NM_006269.2(RP1):c.4565G>A (p.Gly1522Asp) rs77860871 0.00580
NM_001378454.1(ALMS1):c.3193T>C (p.Ser1065Pro) rs28730852 0.00579
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028 0.00578
NM_000283.4(PDE6B):c.615C>T (p.Asp205=) rs149293844 0.00577
NM_001103.4(ACTN2):c.1371C>T (p.Arg457=) rs114008185 0.00577
NM_017780.4(CHD7):c.5051-4C>T rs71640288 0.00577
NM_130837.3(OPA1):c.420G>T (p.Val140=) rs35801538 0.00577
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_000254.3(MTR):c.858C>T (p.Pro286=) rs146019467 0.00576
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=) rs45624133 0.00575
NM_001134363.3(RBM20):c.1881-3C>T rs138436392 0.00575
NM_001365088.1(SLC12A6):c.318C>T (p.Asp106=) rs116086579 0.00575
NM_020949.3(SLC7A14):c.2226G>A (p.Arg742=) rs111687384 0.00575
NM_002471.4(MYH6):c.2579G>A (p.Arg860His) rs115845031 0.00573
NM_001374736.1(DST):c.3557G>A (p.Ser1186Asn) rs139350480 0.00572
NM_001267550.2(TTN):c.11969C>T (p.Pro3990Leu) rs33971253 0.00570
NM_181882.3(PRX):c.133C>G (p.Arg45Gly) rs115090201 0.00569
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324 0.00568
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn) rs34398445 0.00566
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_000384.3(APOB):c.10131G>A (p.Leu3377=) rs1799812 0.00564
NM_001142864.4(PIEZO1):c.4495+4C>T rs140520334 0.00562
NM_001384140.1(PCDH15):c.4671+1053A>C rs149208928 0.00562
NM_133379.5(TTN):c.13936A>G (p.Lys4646Glu) rs140909116 0.00562
NM_005802.5(TOPORS):c.2160C>T (p.Tyr720=) rs74328058 0.00561
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=) rs56345408 0.00559
NM_000432.4(MYL2):c.381G>A (p.Ala127=) rs2233261 0.00558
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met) rs73973147 0.00558
NM_005045.4(RELN):c.621C>T (p.Asp207=) rs114627891 0.00558
NM_015047.3(EMC1):c.2886C>T (p.Tyr962=) rs34350799 0.00555
NM_000384.3(APOB):c.905-15C>G rs72653061 0.00554
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly) rs72646885 0.00553
NM_002230.4(JUP):c.1774-13C>T rs116772523 0.00553
NM_001130823.3(DNMT1):c.117+19T>C rs77954383 0.00552
NM_001130823.3(DNMT1):c.1500C>T (p.Ala500=) rs75443147 0.00552
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr) rs56128843 0.00552
NM_144670.6(A2ML1):c.3880G>A (p.Val1294Ile) rs61746590 0.00552
NM_001291303.3(FAT4):c.14663C>G (p.Ala4888Gly) rs35340865 0.00551
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00550
NM_006231.4(POLE):c.6494G>A (p.Arg2165His) rs5745068 0.00550
NM_004369.4(COL6A3):c.4107C>T (p.Ile1369=) rs35114079 0.00549
NM_001130823.3(DNMT1):c.2382-4C>T rs74505694 0.00548
NM_002087.4(GRN):c.264+7G>A rs60100877 0.00548
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr) rs56404770 0.00546
NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=) rs148493518 0.00546
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=) rs72650003 0.00545
NM_001291303.3(FAT4):c.6219A>G (p.Gln2073=) rs35355603 0.00545
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031 0.00544
NM_153638.4(PANK2):c.276G>A (p.Arg92=) rs142832849 0.00544
NM_001159699.2(FHL1):c.204+5C>T rs182106777 0.00542
NM_014714.4(IFT140):c.4040+10C>T rs138364426 0.00542
NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln) rs113808165 0.00541
NM_058174.3(COL6A2):c.2649C>T (p.Phe883=) rs149172490 0.00540
NM_000266.4(NDP):c.69C>G (p.Asp23Glu) rs5952410 0.00538
NM_001035.3(RYR2):c.14809-15C>G rs790897 0.00538
NM_005359.6(SMAD4):c.*11C>T rs11663402 0.00538
NM_016203.4(PRKAG2):c.207G>A (p.Pro69=) rs144384573 0.00538
NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly) rs74897360 0.00538
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=) rs41313687 0.00537
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001 0.00537
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys) rs181067717 0.00536
NM_001142864.4(PIEZO1):c.7041C>T (p.Asp2347=) rs34352064 0.00535
NM_001267550.2(TTN):c.42024+6T>C rs140002940 0.00535
NM_014336.5(AIPL1):c.937G>T (p.Ala313Ser) rs115681466 0.00535
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_001128840.3(CACNA1D):c.3892C>T (p.Pro1298Ser) rs72556360 0.00534
NM_000843.4(GRM6):c.19G>A (p.Ala7Thr) rs62642053 0.00533
NM_001267550.2(TTN):c.39709+6C>T rs72650067 0.00533
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys) rs149814240 0.00533
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_024408.4(NOTCH2):c.456C>T (p.Pro152=) rs143287927 0.00531
NM_031475.3(ESPN):c.1286C>T (p.Thr429Ile) rs139266211 0.00531
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891 0.00530
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr) rs193074572 0.00529
NM_003664.5(AP3B1):c.1317T>G (p.Thr439=) rs75248449 0.00528
NM_182914.3(SYNE2):c.17561T>C (p.Leu5854Pro) rs117070973 0.00528
NM_001384732.1(CPLANE1):c.5329G>A (p.Val1777Ile) rs142777778 0.00526
NM_003737.4(DCHS1):c.8599G>A (p.Ala2867Thr) rs146233988 0.00526
NM_015662.3(IFT172):c.3401G>T (p.Arg1134Leu) rs148624326 0.00526
NM_015662.3(IFT172):c.4272G>A (p.Gln1424=) rs147850047 0.00526
NM_001365951.3(KIF1B):c.2115+6956A>G rs148481786 0.00525
NM_022773.4(LMF1):c.1593G>C (p.Glu531Asp) rs190958016 0.00525
NM_000218.3(KCNQ1):c.720C>T (p.His240=) rs28730754 0.00524
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His) rs72677237 0.00519
NM_025137.4(SPG11):c.993C>T (p.Ser331=) rs76823973 0.00519
NM_021620.4(PRDM13):c.710C>T (p.Ala237Val) rs200243118 0.00518
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_001555.5(IGSF1):c.2132G>C (p.Gly711Ala) rs146715796 0.00517
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val) rs79708859 0.00517
NM_000384.3(APOB):c.12794T>C (p.Val4265Ala) rs61743502 0.00516
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His) rs56044609 0.00516
NM_001113491.2(SEPTIN9):c.1573+9C>T rs148975193 0.00515
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu) rs115913736 0.00515
NM_000254.3(MTR):c.1033G>A (p.Val345Ile) rs145006491 0.00514
NM_000722.4(CACNA2D1):c.659-17T>C rs201932919 0.00513
NM_001563.4(IMPG1):c.645C>T (p.Asn215=) rs41269331 0.00513
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00513
NM_000843.4(GRM6):c.1533C>T (p.His511=) rs61733043 0.00512
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_181507.2(HPS5):c.3045G>A (p.Met1015Ile) rs61755718 0.00512
NM_133497.4(KCNV2):c.312T>C (p.Gly104=) rs150685794 0.00511
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123 0.00511
NM_000254.3(MTR):c.3474G>A (p.Leu1158=) rs142113735 0.00510
NM_000335.5(SCN5A):c.3508+10C>T rs41258454 0.00510
NM_005633.4(SOS1):c.2167+6T>G rs186640807 0.00510
NM_170784.3(MKKS):c.16G>A (p.Ala6Thr) rs150920905 0.00508
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser) rs74315394 0.00508
NM_005045.4(RELN):c.6084C>T (p.Gly2028=) rs114019779 0.00507
NM_020297.4(ABCC9):c.2644-19G>A rs73254534 0.00507
NM_000052.7(ATP7A):c.610+8G>A rs144616937 0.00506
NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430 0.00506
NM_005379.4(MYO1A):c.2390C>T (p.Ser797Phe) rs113470661 0.00506
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831 0.00505
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525 0.00505
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703 0.00504
NM_032578.4(MYPN):c.1134C>T (p.Ile378=) rs145701607 0.00504
NM_004369.4(COL6A3):c.1471G>C (p.Asp491His) rs112010940 0.00503
NM_004369.4(COL6A3):c.1475C>G (p.Thr492Ser) rs113897824 0.00503
NM_005045.4(RELN):c.1824C>T (p.Cys608=) rs79620906 0.00502
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130 0.00500
NM_032119.4(ADGRV1):c.4939A>G (p.Ile1647Val) rs72782753 0.00500
NM_174936.4(PCSK9):c.720C>T (p.Gly240=) rs41297883 0.00500
NM_003476.5(CSRP3):c.213C>T (p.Ile71=) rs45476991 0.00499
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met) rs2229381 0.00498
NM_000843.4(GRM6):c.2092C>G (p.Leu698Val) rs62638623 0.00498
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=) rs76081119 0.00498
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164 0.00498
NM_006231.4(POLE):c.1359+9G>A rs75135381 0.00498
NM_001040108.2(MLH3):c.3987+15C>T rs117251698 0.00496
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser) rs144922355 0.00496
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327 0.00496
NM_000070.3(CAPN3):c.318C>T (p.Cys106=) rs117609395 0.00495
NM_000251.3(MSH2):c.984C>T (p.Ala328=) rs4987189 0.00495
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666 0.00495
NM_006158.5(NEFL):c.667C>T (p.Leu223=) rs60156239 0.00494
NM_001035.3(RYR2):c.1292+20C>T rs182050281 0.00493
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu) rs72648984 0.00493
NM_000541.5(SAG):c.301G>A (p.Ala101Thr) rs141521563 0.00492
NM_032119.4(ADGRV1):c.3482C>G (p.Ser1161Cys) rs147062294 0.00492
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713 0.00491
NM_012073.5(CCT5):c.1086C>G (p.Ile362Met) rs141675330 0.00491
NM_022124.6(CDH23):c.6852G>C (p.Leu2284=) rs56013867 0.00491
NM_001166114.2(PNPLA6):c.4078G>A (p.Gly1360Ser) rs145178162 0.00490
NM_001244926.2(PRPF4):c.230A>G (p.His77Arg) rs1138958 0.00490
NM_002471.4(MYH6):c.330G>A (p.Ala110=) rs77679218 0.00490
NM_144670.6(A2ML1):c.3252C>T (p.His1084=) rs61745125 0.00490
NM_004208.4(AIFM1):c.103C>T (p.Pro35Ser) rs61730896 0.00489
NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=) rs9858585 0.00488
NM_001242957.3(MAK):c.1715T>C (p.Ile572Thr) rs79544660 0.00488
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=) rs17849927 0.00488
NM_022124.6(CDH23):c.5544C>T (p.Asp1848=) rs142131750 0.00488
NM_002471.4(MYH6):c.36G>A (p.Ala12=) rs141014719 0.00487
NM_002691.4(POLD1):c.1275C>T (p.Ala425=) rs3219392 0.00486
NM_004614.5(TK2):c.231+10C>T rs187517309 0.00486
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His) rs41266761 0.00484
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00484
NM_032119.4(ADGRV1):c.3289G>A (p.Gly1097Ser) rs148097083 0.00484
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846 0.00484
NM_000254.3(MTR):c.3599-18C>T rs116444161 0.00483
NM_001374353.1(GLI2):c.720C>T (p.Asp240=) rs142793481 0.00483
NM_001378454.1(ALMS1):c.11872+18G>A rs139647347 0.00482
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr) rs61753399 0.00482
NM_000329.3(RPE65):c.1155G>A (p.Thr385=) rs62653014 0.00481
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=) rs11904444 0.00481
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn) rs116567963 0.00481
NM_000088.4(COL1A1):c.612C>T (p.Pro204=) rs138078016 0.00480
NM_001349253.2(SCN11A):c.4230G>A (p.Thr1410=) rs78953918 0.00480
NM_000071.3(CBS):c.531+11G>A rs186114513 0.00479
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856 0.00479
NM_206933.4(USH2A):c.5517G>A (p.Val1839=) rs111033421 0.00479
NM_001378183.1(PIEZO2):c.6530G>C (p.Arg2177Thr) rs79992793 0.00478
NM_001384732.1(CPLANE1):c.4698A>G (p.Leu1566=) rs143312971 0.00478
NM_001844.5(COL2A1):c.4104C>T (p.Pro1368=) rs12721379 0.00478
NM_133379.5(TTN):c.13455T>C (p.Pro4485=) rs146470872 0.00477
NM_001206744.2(TPO):c.2749-4G>A rs28915686 0.00476
NM_016599.5(MYOZ2):c.76+19C>T rs77591499 0.00476
NM_017777.4(MKS1):c.1436G>A (p.Arg479His) rs111315726 0.00476
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=) rs61742801 0.00476
NM_000203.5(IDUA):c.709C>T (p.Leu237Phe) rs74385837 0.00475
NM_004415.4(DSP):c.2630+18C>T rs145963404 0.00475
NM_015404.4(WHRN):c.764G>A (p.Gly255Asp) rs79509430 0.00475
NM_133459.4(CCBE1):c.195G>A (p.Glu65=) rs116673304 0.00475
NM_145046.5(CALR3):c.850G>A (p.Asp284Asn) rs10404156 0.00473
NM_198506.5(LRIT3):c.1621A>G (p.Ile541Val) rs35997283 0.00473
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942 0.00471
NM_000257.4(MYH7):c.1579-17C>T rs182949516 0.00470
NM_015662.3(IFT172):c.1685C>G (p.Thr562Ser) rs61743977 0.00470
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) rs141947938 0.00470
NM_022489.4(INF2):c.1451G>A (p.Cys484Tyr) rs201323100 0.00470
NM_024649.5(BBS1):c.1020C>G (p.Ser340=) rs35209408 0.00470
NM_000188.3(HK1):c.2007G>A (p.Glu669=) rs117797901 0.00468
NM_172201.2(KCNE2):c.25C>G (p.Gln9Glu) rs16991652 0.00468
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro) rs13171868 0.00467
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys) rs41288013 0.00466
NM_005045.4(RELN):c.5775A>G (p.Arg1925=) rs2711866 0.00464
NM_000257.4(MYH7):c.*20G>A rs45548631 0.00463
NM_001267550.2(TTN):c.33742+11A>G rs72650042 0.00463
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_004082.5(DCTN1):c.586A>G (p.Ile196Val) rs55862001 0.00462
NM_014845.6(FIG4):c.66+10C>T rs200063827 0.00462
NM_015650.4(TRAF3IP1):c.778G>A (p.Glu260Lys) rs138469421 0.00462
NM_182914.3(SYNE2):c.7162G>A (p.Glu2388Lys) rs200842904 0.00462
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=) rs116747861 0.00461
NM_001035.3(RYR2):c.1863C>T (p.His621=) rs17686573 0.00461
NM_001105206.3(LAMA4):c.888C>T (p.Ser296=) rs17073495 0.00461
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val) rs72650029 0.00461
NM_022436.3(ABCG5):c.1864A>G (p.Met622Val) rs140374206 0.00461
NM_001145809.2(MYH14):c.2792G>A (p.Arg931His) rs200351672 0.00460
NM_001365536.1(SCN9A):c.2517+6C>T rs145316463 0.00460
NM_017739.4(POMGNT1):c.120+13C>T rs12737140 0.00459
NM_001267550.2(TTN):c.60055G>A (p.Glu20019Lys) rs201487340 0.00458
NM_006269.2(RP1):c.616-6T>C rs186571865 0.00458
NM_012186.3(FOXE3):c.587G>C (p.Gly196Ala) rs281865461 0.00458
NM_022773.4(LMF1):c.1052G>A (p.Arg351Gln) rs192520307 0.00458
NM_014336.5(AIPL1):c.97-9G>A rs140124986 0.00457
NM_170707.4(LMNA):c.357-3717A>G rs148559653 0.00457
NM_001844.5(COL2A1):c.1221C>T (p.Ser407=) rs150865922 0.00456
NM_181882.3(PRX):c.1216G>A (p.Ala406Thr) rs117336941 0.00456
NM_002471.4(MYH6):c.86G>A (p.Arg29Gln) rs150574114 0.00455
NM_004863.4(SPTLC2):c.1664C>T (p.Thr555Met) rs138652708 0.00454
NM_018718.3(CEP41):c.208-5A>G rs11765434 0.00453
NM_002471.4(MYH6):c.1989C>T (p.Asn663=) rs28730774 0.00451
NM_004826.4(ECEL1):c.1656G>A (p.Lys552=) rs1190429 0.00451
NM_006514.4(SCN10A):c.4009T>A (p.Ser1337Thr) rs11711062 0.00451
NM_015046.7(SETX):c.7287+207C>T rs45490698 0.00451
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_001173990.3(TMEM216):c.35-17C>T rs147953784 0.00450
NM_015047.3(EMC1):c.719C>T (p.Pro240Leu) rs141614470 0.00450
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684 0.00449
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=) rs2273437 0.00449
NM_001384140.1(PCDH15):c.4671+1438A>C rs16937768 0.00449
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082 0.00448
NM_020297.4(ABCC9):c.285-16G>A rs144825585 0.00448
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460 0.00447
NM_022787.4(NMNAT1):c.115+3A>G rs181504239 0.00447
NM_001035.3(RYR2):c.14029C>T (p.Leu4677=) rs112864477 0.00446
NM_001267550.2(TTN):c.*6C>A rs188728343 0.00446
NM_002472.3(MYH8):c.5513A>C (p.Glu1838Ala) rs111567318 0.00446
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_053274.3(GLMN):c.436G>A (p.Ala146Thr) rs61754623 0.00445
NM_001142864.4(PIEZO1):c.2865G>A (p.Gln955=) rs35597347 0.00444
NM_002471.4(MYH6):c.2168+17C>A rs192337153 0.00443
NM_015102.5(NPHP4):c.1705C>G (p.Gln569Glu) rs113413307 0.00443
NM_020631.6(PLEKHG5):c.440-6A>G rs202049535 0.00443
NM_030973.4(MED25):c.1004C>T (p.Ala335Val) rs145770066 0.00443
NM_014000.3(VCL):c.1317T>C (p.Ser439=) rs71579355 0.00442
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_000081.4(LYST):c.10800+4G>T rs41308172 0.00441
NM_001723.7(DST):c.5780A>G (p.His1927Arg) rs12209266 0.00441
NM_003835.4(RGS9):c.1851G>C (p.Val617=) rs77175573 0.00441
NM_004281.4(BAG3):c.231G>A (p.Pro77=) rs143752613 0.00441
NM_003193.5(TBCE):c.101-5G>A rs113829976 0.00440
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_004369.4(COL6A3):c.4895G>A (p.Arg1632Gln) rs111231885 0.00438
NM_006000.3(TUBA4A):c.909A>G (p.Val303=) rs141922502 0.00438
NM_022114.4(PRDM16):c.1212G>A (p.Thr404=) rs139129844 0.00438
NM_001261826.3(AP3D1):c.857-3C>T rs202003533 0.00437
NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser) rs138628273 0.00437
NM_022437.3(ABCG8):c.1506G>A (p.Pro502=) rs145756111 0.00437
NM_001134363.3(RBM20):c.2655+15A>G rs187915202 0.00436
NM_001319074.4(RAX2):c.45T>G (p.Gly15=) rs139127905 0.00435
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 0.00435
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys) rs35690634 0.00435
NM_000179.3(MSH6):c.457+13A>G rs1800933 0.00434
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_005689.4(ABCB6):c.1762G>A (p.Gly588Ser) rs145526996 0.00431
NM_006514.4(SCN10A):c.4656G>A (p.Ala1552=) rs151182542 0.00431
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904 0.00431
NM_006073.4(TRDN):c.1721-4A>G rs60743141 0.00430
NM_000179.3(MSH6):c.1345C>T (p.Leu449=) rs3136333 0.00429
NM_032119.4(ADGRV1):c.5525-7C>T rs137853919 0.00429
NM_020297.4(ABCC9):c.142+15dup rs571187142 0.00428
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_000186.4(CFH):c.3050C>T (p.Thr1017Ile) rs34362004 0.00426
NM_000195.5(HPS1):c.27G>C (p.Glu9Asp) rs7914192 0.00426
NM_006262.4(PRPH):c.996+1G>A rs73112142 0.00426
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr) rs111033481 0.00424
NM_020433.5(JPH2):c.380-9C>G rs111987307 0.00423
NM_031885.5(BBS2):c.805-20A>G rs41280892 0.00423
NM_033056.4(PCDH15):c.5603C>T (p.Thr1868Met) rs191736346 0.00423
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) rs61741524 0.00422
NM_022773.4(LMF1):c.302G>C (p.Arg101Thr) rs147688306 0.00422
NM_001113491.2(SEPTIN9):c.1574-10C>T rs192537441 0.00421
NM_001354768.3(NRL):c.441G>A (p.Arg147=) rs201197984 0.00421
NM_004958.4(MTOR):c.510G>C (p.Leu170=) rs12120294 0.00421
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869 0.00421
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569 0.00420
NM_000273.3(GPR143):c.570C>T (p.His190=) rs61733440 0.00420
NM_013266.4(CTNNA3):c.2553G>A (p.Lys851=) rs115814032 0.00420
NM_001142864.4(PIEZO1):c.2423G>A (p.Arg808Gln) rs202103485 0.00418
NM_015909.4(NBAS):c.3282T>C (p.His1094=) rs139891797 0.00418
NM_001029883.3(PCARE):c.3789G>A (p.Leu1263=) rs199689791 0.00417
NM_181507.2(HPS5):c.1501G>A (p.Gly501Arg) rs143784823 0.00417
NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala) rs147756847 0.00416
NM_000548.5(TSC2):c.5025G>A (p.Pro1675=) rs35118875 0.00415
NM_001365951.3(KIF1B):c.5250A>G (p.Ala1750=) rs75413741 0.00415
NM_002471.4(MYH6):c.622G>A (p.Asp208Asn) rs142027794 0.00415
NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser) rs200970763 0.00414
NM_001458.5(FLNC):c.1902G>A (p.Glu634=) rs12536635 0.00414
NM_002454.3(MTRR):c.1468A>G (p.Thr490Ala) rs41283145 0.00414
NM_014000.3(VCL):c.1177-15C>T rs115083446 0.00414
NM_206933.4(USH2A):c.6270A>G (p.Leu2090=) rs56245532 0.00414
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416 0.00413
NM_002471.4(MYH6):c.4651-12A>C rs193922653 0.00413
NM_012213.3(MLYCD):c.799-16C>T rs150789545 0.00413
NM_018319.4(TDP1):c.1705A>G (p.Thr569Ala) rs35973343 0.00413
NM_000520.6(HEXA):c.759G>A (p.Val253=) rs117513345 0.00412
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn) rs12344006 0.00412
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=) rs61753725 0.00412
NM_001384140.1(PCDH15):c.3502-8C>T rs184144118 0.00411
NM_013266.4(CTNNA3):c.99+11C>T rs115451937 0.00411
NM_020631.6(PLEKHG5):c.1254C>G (p.Pro418=) rs139904931 0.00411
NM_022081.6(HPS4):c.710C>T (p.Ala237Val) rs77597168 0.00411
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895 0.00411
NM_007348.4(ATF6):c.715A>G (p.Thr239Ala) rs141611945 0.00409
NM_001166114.2(PNPLA6):c.3954C>T (p.Ala1318=) rs34030828 0.00408
NM_007078.3(LDB3):c.352G>A (p.Val118Met) rs35507268 0.00408
NM_015102.5(NPHP4):c.511G>A (p.Ala171Thr) rs113765431 0.00408
NM_000335.5(SCN5A):c.717C>T (p.Ile239=) rs41285129 0.00407
NM_024577.4(SH3TC2):c.1403C>T (p.Ala468Val) rs6874630 0.00407
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_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00404
NM_206933.4(USH2A):c.8937A>G (p.Val2979=) rs139100097 0.00404
NM_001148.6(ANK2):c.4744C>T (p.Arg1582Trp) rs35249198 0.00403
NM_001458.5(FLNC):c.1549+15C>A rs181134489 0.00403
NM_005634.3(SOX3):c.157G>C (p.Val53Leu) rs200361128 0.00403
NM_133379.5(TTN):c.13863G>A (p.Met4621Ile) rs77419653 0.00403
NM_001042432.2(CLN3):c.771G>A (p.Glu257=) rs73533466 0.00402
NM_001384140.1(PCDH15):c.2625G>A (p.Ser875=) rs111033516 0.00401
NM_000251.3(MSH2):c.1662-9G>A rs17218356 0.00398
NM_001267550.2(TTN):c.15850G>A (p.Val5284Met) rs66839174 0.00398
NM_001376256.1(CRYM):c.807T>C (p.Phe269=) rs144588424 0.00398
NM_003664.5(AP3B1):c.2880C>T (p.Ala960=) rs62001052 0.00398
NM_004360.5(CDH1):c.532-18C>T rs200673941 0.00398
NM_014845.6(FIG4):c.27C>T (p.Ile9=) rs141040807 0.00398
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln) rs141340867 0.00398
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555 0.00397
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_004369.4(COL6A3):c.1231C>G (p.Leu411Val) rs113716915 0.00396
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513 0.00396
NM_004984.4(KIF5A):c.2769G>A (p.Arg923=) rs35225609 0.00394
NM_005340.7(HINT1):c.117T>C (p.Leu39=) rs78949626 0.00394
NM_032119.4(ADGRV1):c.10796G>C (p.Gly3599Ala) rs145294917 0.00394
NM_004249.4(RAB28):c.579T>C (p.Ile193=) rs61758767 0.00392
NM_004369.4(COL6A3):c.4285+17G>A rs3791000 0.00392
NM_001128840.3(CACNA1D):c.954G>A (p.Ala318=) rs147336902 0.00391
NM_012418.4(FSCN2):c.150C>G (p.Pro50=) rs184519759 0.00391
NM_032119.4(ADGRV1):c.8691A>C (p.Glu2897Asp) rs201586455 0.00391
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623 0.00390
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432 0.00389
NM_001079668.3(NKX2-1):c.1093G>T (p.Ala365Ser) rs147542347 0.00389
NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg) rs187695569 0.00389
NM_002335.4(LRP5):c.4000+9C>T rs148685646 0.00389
NM_006005.3(WFS1):c.917T>C (p.Met306Thr) rs146114074 0.00389
NM_006269.2(RP1):c.5701C>T (p.Leu1901Phe) rs113793810 0.00389
NM_017636.4(TRPM4):c.870C>T (p.Asn290=) rs141997826 0.00389
NM_022041.4(GAN):c.1684C>G (p.Pro562Ala) rs79901179 0.00388
NM_080425.4(GNAS):c.1455C>A (p.Ala485=) rs55890501 0.00388
NM_014391.3(ANKRD1):c.148G>C (p.Ala50Pro) rs28730751 0.00387
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185 0.00386
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=) rs201531206 0.00386
NM_001372044.2:c.1116C>T (p.Ser372=) rs201282170 0.00386
NM_020297.4(ABCC9):c.2631G>A (p.Thr877=) rs139408145 0.00386
NM_020778.5(ALPK3):c.2595C>T (p.Pro865=) rs114957070 0.00386
NM_022114.4(PRDM16):c.3130C>T (p.Leu1044Phe) rs187400273 0.00386
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala) rs61749435 0.00385
NM_178857.6(RP1L1):c.5421C>G (p.Gly1807=) rs77593247 0.00385
NM_000052.7(ATP7A):c.4226+11T>C rs200009243 0.00383
NM_000285.4(PEPD):c.624+16G>A rs142369843 0.00383
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=) rs41288017 0.00383
NM_001349253.2(SCN11A):c.3132C>G (p.Asn1044Lys) rs35693485 0.00382
NM_015909.4(NBAS):c.4659+12C>G rs114354862 0.00382
NM_020778.5(ALPK3):c.2530C>T (p.Pro844Ser) rs115292211 0.00382
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=) rs75094258 0.00381
NM_004387.4(NKX2-5):c.594G>A (p.Gln198=) rs7728764 0.00381
NM_032119.4(ADGRV1):c.6318G>A (p.Ala2106=) rs190981860 0.00381
NM_014000.3(VCL):c.1542C>T (p.Val514=) rs7904077 0.00380
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256 0.00379
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_001349253.2(SCN11A):c.1473+12C>T rs115646260 0.00378
NM_015909.4(NBAS):c.4847A>G (p.His1616Arg) rs35295359 0.00378
NM_001130823.3(DNMT1):c.2463C>T (p.Leu821=) rs61750051 0.00377
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) rs72648272 0.00377
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00376
NM_000327.4(ROM1):c.686G>A (p.Arg229His) rs150168119 0.00375
NM_003835.4(RGS9):c.495G>A (p.Gln165=) rs147874330 0.00375
NM_000722.4(CACNA2D1):c.3134A>C (p.Asp1045Ala) rs35131433 0.00374
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=) rs148197254 0.00374
NM_001793.6(CDH3):c.2058C>T (p.Pro686=) rs116035854 0.00373
NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp) rs201472270 0.00373
NM_005401.5(PTPN14):c.1200G>A (p.Ser400=) rs12404313 0.00373
NM_000202.8(IDS):c.754G>A (p.Asp252Asn) rs146458524 0.00372
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230 0.00372
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser) rs118203518 0.00372
NM_001201543.2(FAM161A):c.197C>T (p.Thr66Ile) rs145199539 0.00372
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116 0.00372
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg) rs148999583 0.00372
NM_003560.4(PLA2G6):c.495G>C (p.Gly165=) rs150190277 0.00372
NM_000271.5(NPC1):c.1947+14_1947+15insC rs201170241 0.00371
NM_001029883.3(PCARE):c.3447G>A (p.Pro1149=) rs200278694 0.00371
NM_006214.4(PHYH):c.126A>G (p.Gln42=) rs150631501 0.00371
NM_025114.4(CEP290):c.1522+6C>T rs148446546 0.00371
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00370
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399 0.00370
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser) rs143037290 0.00369
NM_007078.3(LDB3):c.1263G>A (p.Gly421=) rs139834701 0.00369
NM_014014.5(SNRNP200):c.1159A>G (p.Met387Val) rs142729495 0.00369
NM_020738.4(KIDINS220):c.1068T>C (p.Asp356=) rs115226053 0.00369
NM_025137.4(SPG11):c.2656T>C (p.Tyr886His) rs139687202 0.00369
NM_206933.4(USH2A):c.6257C>A (p.Thr2086Asn) rs149202379 0.00369
NM_001001557.4(GDF6):c.255G>T (p.Pro85=) rs112296824 0.00366
NM_001035.3(RYR2):c.13566C>T (p.Val4522=) rs57360419 0.00366
NM_006005.3(WFS1):c.225C>T (p.Asp75=) rs35216268 0.00366
NM_014336.5(AIPL1):c.267C>T (p.Cys89=) rs62653020 0.00366
NM_153676.4(USH1C):c.946G>C (p.Glu316Gln) rs35336155 0.00366
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) rs187333111 0.00365
NM_130797.4(DPP6):c.627+21101A>G rs117574002 0.00365
NM_001005361.3(DNM2):c.2543+7C>G rs201979143 0.00364
NM_001267550.2(TTN):c.66160+16G>A rs149714835 0.00364
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325 0.00364
NM_015404.4(WHRN):c.1454C>T (p.Pro485Leu) rs79572315 0.00364
NM_000051.4(ATM):c.5497-15G>C rs3092828 0.00363
NM_002225.5(IVD):c.551-18C>T rs142064071 0.00363
NM_001206744.2(TPO):c.30G>A (p.Thr10=) rs28909989 0.00362
NM_001267550.2(TTN):c.34474C>A (p.Pro11492Thr) rs182428755 0.00362
NM_001330691.3(CEP78):c.35C>T (p.Ala12Val) rs182452644 0.00362
NM_000335.5(SCN5A):c.4434+13C>T rs148598985 0.00361
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208 0.00361
NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg) rs2229860 0.00361
NM_015662.3(IFT172):c.4540-6C>T rs146140583 0.00361
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00359
NM_004318.4(ASPH):c.844C>T (p.Pro282Ser) rs141197241 0.00359
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909 0.00359
NM_000487.6(ARSA):c.1002C>T (p.Ser334=) rs147027229 0.00358
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820 0.00358
NM_001365951.3(KIF1B):c.2115+6183T>C rs149241091 0.00357
NM_001376.5(DYNC1H1):c.4533G>A (p.Pro1511=) rs150900416 0.00357
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310 0.00357
NM_014336.5(AIPL1):c.140C>G (p.Thr47Arg) rs150656720 0.00357
NM_001555.5(IGSF1):c.3228G>C (p.Met1076Ile) rs145402054 0.00356
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
NM_001114753.3(ENG):c.120C>T (p.Gly40=) rs41522944 0.00355
NM_001793.6(CDH3):c.2281-44G>T rs151140320 0.00355
NM_201596.3(CACNB2):c.873G>A (p.Leu291=) rs138423466 0.00355
NM_000335.5(SCN5A):c.1017C>T (p.Tyr339=) rs17215493 0.00354
NM_000431.4(MVK):c.769-7T>G rs104895331 0.00354
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp) rs72648964 0.00354
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719 0.00354
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172 0.00354
NM_001114753.3(ENG):c.1096G>C (p.Asp366His) rs1800956 0.00353
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826 0.00353
NM_012073.5(CCT5):c.1059G>A (p.Leu353=) rs114634318 0.00353
NM_000195.5(HPS1):c.*12C>T rs112544050 0.00352
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val) rs41313697 0.00352
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro) rs144372453 0.00352
NM_005502.4(ABCA1):c.1196T>C (p.Val399Ala) rs9282543 0.00352
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=) rs41313693 0.00351
NM_020778.5(ALPK3):c.158G>A (p.Arg53Gln) rs145993158 0.00351
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=) rs45548237 0.00350
NM_003235.5(TG):c.325A>G (p.Ile109Val) rs35301433 0.00350
NM_006939.4(SOS2):c.1344G>A (p.Leu448=) rs35530861 0.00350
NM_000188.3(HK1):c.828G>A (p.Glu276=) rs41279658 0.00349
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=) rs41313703 0.00349
NM_001105206.3(LAMA4):c.2810A>G (p.Glu937Gly) rs35605307 0.00349
NM_182925.5(FLT4):c.1921C>T (p.Pro641Ser) rs55667289 0.00349
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468 0.00348
NM_178857.6(RP1L1):c.1320C>T (p.His440=) rs137914071 0.00348
NM_003334.4(UBA1):c.1702C>G (p.Leu568Val) rs150574055 0.00347
NM_014003.4(DHX38):c.3474G>C (p.Arg1158=) rs111734496 0.00347
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613 0.00346
NM_153638.4(PANK2):c.137A>T (p.Asp46Val) rs148036492 0.00346
NM_020297.4(ABCC9):c.2523C>T (p.Ala841=) rs144537241 0.00345
NM_020778.5(ALPK3):c.123C>T (p.Leu41=) rs78638069 0.00345
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00344
NM_004281.4(BAG3):c.249C>A (p.His83Gln) rs151331972 0.00344
NM_014714.4(IFT140):c.3711C>T (p.Phe1237=) rs146172074 0.00344
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=) rs56151652 0.00343
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116 0.00343
NM_001363711.2(DUOX2):c.1921G>A (p.Glu641Lys) rs139161034 0.00343
NM_006445.4(PRPF8):c.4707G>A (p.Leu1569=) rs143237388 0.00343
NM_145200.5(CABP4):c.360C>T (p.Phe120=) rs192900242 0.00342
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_001793.6(CDH3):c.805A>C (p.Met269Leu) rs36038900 0.00341
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=) rs55717455 0.00341
NM_206933.4(USH2A):c.14315C>T (p.Ser4772Phe) rs149222801 0.00339
NM_001854.4(COL11A1):c.3979-14A>T rs186245518 0.00338
NM_004958.4(MTOR):c.7455C>T (p.Asp2485=) rs41274506 0.00338
NM_005472.5(KCNE3):c.248G>A (p.Arg83His) rs17215437 0.00338
NM_001003800.2(BICD2):c.2445G>A (p.Pro815=) rs34451610 0.00337
NM_031433.4(MFRP):c.641+9C>T rs189840088 0.00337
NM_031935.3(HMCN1):c.114G>T (p.Gly38=) rs115169621 0.00337
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) rs77586767 0.00336
NM_001012720.2(RGR):c.744+5A>G rs143720091 0.00334
NM_001267550.2(TTN):c.10114+5G>A rs115985443 0.00334
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219 0.00333
NM_133379.5(TTN):c.11741C>G (p.Thr3914Arg) rs116593093 0.00333
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698 0.00332
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr) rs72648923 0.00332
NM_002972.4(SBF1):c.5604T>C (p.Val1868=) rs141053122 0.00332
NM_003476.5(CSRP3):c.508+18C>T rs144404101 0.00332
NM_004360.5(CDH1):c.833-16C>G rs33984587 0.00332
NM_133379.5(TTN):c.12067G>A (p.Gly4023Arg) rs143253411 0.00332
NM_000245.4(MET):c.-14-4G>A rs144126521 0.00331
NM_020812.4(DOCK6):c.4344G>A (p.Pro1448=) rs200307398 0.00331
NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly) rs187947581 0.00330
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=) rs77351928 0.00330
NM_182961.4(SYNE1):c.17542-14A>G rs111686341 0.00330
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684 0.00329
NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=) rs149613968 0.00328
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300 0.00328
NM_014014.5(SNRNP200):c.4165G>A (p.Val1389Ile) rs143898031 0.00328
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_001098.3(ACO2):c.231C>T (p.Pro77=) rs150593227 0.00327
NM_001148.6(ANK2):c.10861C>G (p.Leu3621Val) rs45570339 0.00327
NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser) rs144692954 0.00327
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=) rs72647886 0.00326
NM_001374353.1(GLI2):c.2037A>G (p.Ala679=) rs146059306 0.00325
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363 0.00325
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val) rs41561818 0.00325
NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg) rs181769913 0.00324
NM_007374.3(SIX6):c.614T>G (p.Leu205Arg) rs45549246 0.00324
NM_014862.4(ARNT2):c.1707G>T (p.Gln569His) rs145379118 0.00324
NM_022124.6(CDH23):c.4875G>A (p.Val1625=) rs149664909 0.00324
NM_001040108.2(MLH3):c.3315C>A (p.Asp1105Glu) rs28757008 0.00323
NM_001851.6(COL9A1):c.1395+14T>A rs367801990 0.00323
NM_002335.4(LRP5):c.2139G>A (p.Val713=) rs34369535 0.00322
NM_006017.3(PROM1):c.1497C>T (p.Ile499=) rs113895168 0.00322
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser) rs138155747 0.00322
NM_001080442.3(SLC38A8):c.628C>G (p.Leu210Val) rs150844985 0.00321
NM_001142864.4(PIEZO1):c.627A>G (p.Ala209=) rs140142474 0.00321
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_001365951.3(KIF1B):c.2115+7031T>C rs149267056 0.00320
NM_014989.7(RIMS1):c.1459G>A (p.Ala487Thr) rs200422266 0.00320
NM_015072.5(TTLL5):c.1963C>T (p.Leu655=) rs142427449 0.00320
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00319
NM_001082971.2(DDC):c.96C>T (p.Asp32=) rs11575290 0.00319
NM_001384140.1(PCDH15):c.1039C>T (p.Leu347Phe) rs111033436 0.00318
NM_004333.6(BRAF):c.1227A>G (p.Ser409=) rs145035762 0.00318
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) rs140003804 0.00317
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro) rs72650032 0.00317
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) rs55762754 0.00317
NM_004281.4(BAG3):c.181-9T>A rs139232658 0.00317
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile) rs141624266 0.00316
NM_001368067.1(LDB3):c.546T>C (p.Ser182=) rs71473272 0.00316
NM_018979.4(WNK1):c.3654A>G (p.Ser1218=) rs141971833 0.00316
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=) rs137853918 0.00316
NM_000117.3(EMD):c.144C>T (p.Leu48=) rs200537612 0.00315
NM_001267550.2(TTN):c.25921+20G>A rs148460010 0.00315
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764 0.00315
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His) rs75120695 0.00315
NM_013266.4(CTNNA3):c.2142G>A (p.Glu714=) rs115972723 0.00315
NM_024747.6(HPS6):c.398C>T (p.Ala133Val) rs199816481 0.00315
NM_032122.5(DTNBP1):c.702C>T (p.Asn234=) rs78181071 0.00315
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_001267550.2(TTN):c.31847-17A>G rs72650025 0.00313
NM_001372106.1(DNAH10):c.11213C>T (p.Thr3738Ile) rs202063832 0.00313
NM_000539.3(RHO):c.360C>T (p.Gly120=) rs79765751 0.00312
NM_002497.4(NEK2):c.638+9G>C rs150859900 0.00312
NM_006231.4(POLE):c.779G>A (p.Arg260Gln) rs5744752 0.00312
NM_007078.3(LDB3):c.147G>A (p.Val49=) rs45591834 0.00312
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) rs142476821 0.00312
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_007126.5(VCP):c.1360-14C>G rs144304208 0.00311
NM_001848.3(COL6A1):c.1182+3G>A rs62215499 0.00310
NM_017636.4(TRPM4):c.3611C>T (p.Pro1204Leu) rs150391806 0.00310
NM_000371.4(TTR):c.336+19G>A rs75517067 0.00309
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968 0.00309
NM_002471.4(MYH6):c.1071C>T (p.Ile357=) rs58131640 0.00309
NM_018706.7(DHTKD1):c.209C>G (p.Ala70Gly) rs34644609 0.00309
NM_019066.5(MAGEL2):c.225G>A (p.Pro75=) rs564216035 0.00309
NM_000038.6(APC):c.3471G>A (p.Glu1157=) rs143927847 0.00308
NM_001297.5(CNGB1):c.1626C>T (p.Thr542=) rs148735841 0.00308
NM_205861.3(DHDDS):c.324-10C>T rs144459149 0.00308
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=) rs150425546 0.00307
NM_001164665.2(KIAA1549):c.5157C>T (p.Pro1719=) rs148849089 0.00307
NM_001267550.2(TTN):c.15584A>G (p.Glu5195Gly) rs72648931 0.00307
NM_000384.3(APOB):c.8353A>C (p.Asn2785His) rs2163204 0.00306
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795 0.00306
NM_001555.5(IGSF1):c.1247-8G>C rs184648797 0.00306
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675 0.00306
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=)