ClinVar Miner

Variants from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics: Collection method of the submission from Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics:
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
811 820 17 1843 582 29 110 2343

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
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics pathogenic likely pathogenic uncertain significance likely benign benign drug response established risk allele likely risk allele protective risk factor other
pathogenic 0 83 30 7 3 7 0 1 1 1 6
likely pathogenic 37 0 20 3 1 1 0 0 0 0 0
uncertain significance 22 27 3 324 133 0 1 0 0 2 0
likely benign 4 8 192 7 1439 0 0 0 0 2 2
benign 6 2 35 284 7 0 0 0 0 2 4

Submitter to submitter summary #

Total submitters: 110
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
GeneDx 0 1134 0 851 203 2 36 1092
Invitae 0 454 0 607 151 0 12 770
PreventionGenetics, part of Exact Sciences 0 588 0 494 167 1 12 674
CeGaT Center for Human Genetics Tuebingen 0 671 0 378 147 0 21 546
Eurofins Ntd Llc (ga) 0 555 0 347 69 7 12 435
Genetic Services Laboratory, University of Chicago 0 321 0 260 56 0 4 320
Athena Diagnostics Inc 0 202 0 211 33 0 2 246
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 256 0 166 29 1 9 205
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 183 0 141 37 0 19 197
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 325 0 146 41 0 4 191
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 159 0 123 36 0 5 164
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 238 0 116 21 0 2 139
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 292 0 106 24 0 2 132
Clinical Genetics, Academic Medical Center 0 133 0 110 14 0 2 126
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 162 0 80 11 0 2 93
Ambry Genetics 0 117 0 64 20 0 3 87
Mayo Clinic Laboratories, Mayo Clinic 0 163 0 31 30 0 8 69
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 177 0 52 12 0 2 66
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 22 17 21 15 0 0 53
Illumina Laboratory Services, Illumina 0 79 0 23 26 0 3 52
Quest Diagnostics Nichols Institute San Juan Capistrano 0 60 0 41 7 0 3 51
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 109 0 42 6 0 3 51
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 28 0 31 10 0 0 41
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 43 0 23 6 0 1 30
Department of Pathology and Laboratory Medicine, Sinai Health System 0 39 0 12 10 0 8 30
OMIM 0 20 0 1 4 12 11 27
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 39 0 8 15 0 3 26
Revvity Omics, Revvity 0 93 0 12 8 0 5 25
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 15 0 12 2 0 0 14
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 18 0 11 2 0 0 13
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 3 0 2 3 0 8 13
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 9 0 10 1 0 0 11
AiLife Diagnostics, AiLife Diagnostics 0 15 0 4 0 0 7 11
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 16 0 9 1 0 0 10
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 5 0 7 2 0 0 9
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 7 0 2 7 0 0 9
Blueprint Genetics 0 14 0 3 1 0 4 8
PharmGKB 0 0 0 0 0 8 0 8
Mendelics 0 5 0 3 4 0 0 7
Color Diagnostics, LLC DBA Color Health 0 8 0 4 3 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 15 0 1 3 0 2 6
Fulgent Genetics, Fulgent Genetics 0 43 0 6 0 0 0 6
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 9 0 4 0 0 2 6
Leiden Open Variation Database 0 6 0 1 4 0 1 6
CSER _CC_NCGL, University of Washington 0 3 0 1 2 0 1 4
Clinical Genetics and Genomics, Karolinska University Hospital 0 19 0 3 1 0 0 4
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 0 7 0 3 1 0 0 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 40 0 2 0 0 2 4
Institute of Human Genetics, University Hospital Muenster 0 8 0 3 1 0 0 4
Natera, Inc. 0 24 0 1 2 0 0 3
RettBASE 0 5 0 3 0 0 0 3
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 2 1 0 0 3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 0 0 0 3 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 3 0 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 2 0 0 1 3
Kariminejad - Najmabadi Pathology & Genetics Center 0 8 0 2 0 0 1 3
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic 0 0 0 1 1 1 0 3
All of Us Research Program, National Institutes of Health 0 1 0 1 1 0 1 3
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 10 0 1 1 0 0 2
Claritas Genomics 0 1 0 1 1 0 0 2
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 1 0 1 1 0 0 2
Department Of Translational Genomics (developmental Genetics Section), King Faisal Specialist Hospital & Research Centre 0 0 0 0 1 0 1 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 7 0 1 0 0 1 2
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 1 1 0 0 2
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 1 2
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 1 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 2 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 0 1 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 0 0 2 0 0 2
Gharavi Laboratory, Columbia University 0 4 0 0 0 0 2 2
CFTR-France 0 2 0 1 0 0 1 2
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 1 0 1 1 0 0 2
DASA 0 7 0 0 0 0 2 2
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 21 0 0 1 0 1 2
Baylor Genetics 0 9 0 0 0 0 1 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 1 0 0 0 0 1 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 1 0 0 1 0 0 1
King Laboratory, University of Washington 0 0 0 0 1 0 0 1
MyeliNeuroGene Lab, McGill University Health Center Research Institute 0 0 0 0 0 0 1 1
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 0 1 0 0 0 1
Center for Genetic Medicine Research, Children's National Medical Center 0 1 0 0 1 0 0 1
GeneKor MSA 0 2 0 1 0 0 0 1
National Institute on Deafness and Communication Disorders, National Institutes of Health 0 0 0 0 1 0 0 1
Leeds Amelogenesis Imperfecta Research Group, University of Leeds 0 0 0 0 0 0 1 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 0 0 1 0 0 1
Undiagnosed Diseases Network, NIH 0 1 0 0 1 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 11 0 0 0 0 1 1
Santos-Cortez Lab, University of Colorado School of Medicine 0 0 0 0 1 0 0 1
Department of Pathology and Molecular Medicine, Queen's University 0 2 0 1 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 5 0 1 0 0 0 1
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto 0 2 0 1 0 0 0 1
Inherited Neuropathy Consortium 0 0 0 0 0 0 1 1
Medical Genetics Summaries 0 0 0 0 0 1 0 1
3DMed Clinical Laboratory Inc 0 0 0 0 1 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 1 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 0 0 0 1 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 0 0 1 0 1
deCODE genetics, Amgen 0 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 0 0 0 0 0 1 1
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 0 1 0 0 0 1
New York Genome Center 0 3 0 1 0 0 0 1
Genome-Nilou Lab 0 2 0 1 0 0 0 1
Laboratoire Génétique Moléculaire, CHRU TOURS 0 1 0 1 0 0 0 1
Faculty of Health Sciences, Beirut Arab University 0 0 0 0 0 0 1 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania 0 0 0 1 0 0 0 1
Pediatric Department, Xiangya Hospital, Central South University 0 0 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 0 0 0 1 0 0 0 1
Molecular Genetics, Royal Melbourne Hospital 0 1 0 0 1 0 0 1
H3Africa Consortium 0 0 0 0 0 0 1 1
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 2343
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_020822.3(KCNT1):c.2944-19T>C rs759060806 0.12219
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr) rs755793 0.10553
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg) rs28711516 0.06950
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_206933.4(USH2A):c.8656C>T (p.Leu2886Phe) rs41277200 0.04760
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405 0.04656
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_032545.4(CFC1):c.61A>C (p.Asn21His) rs199607550 0.04207
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204 0.04081
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893 0.04049
NM_173477.5(USH1G):c.388A>G (p.Lys130Glu) rs111033465 0.03966
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_003919.3(SGCE):c.1253+812G>A rs559235992 0.03668
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu) rs28934585 0.03462
NM_000070.3(CAPN3):c.1029+3A>G rs28364442 0.03285
NM_001379610.1(SPINK1):c.194+90A>T rs112569673 0.03151
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser) rs398124605 0.03116
NM_014009.4(FOXP3):c.543C>T (p.Ser181=) rs2232367 0.03006
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) rs2237857 0.02968
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_000277.3(PAH):c.707-7A>T rs62508624 0.02868
NM_130797.4(DPP6):c.226G>A (p.Asp76Asn) rs569787719 0.02864
NM_000135.4(FANCA):c.3348+18A>G rs1800347 0.02828
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132 0.02791
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_000420.3(KEL):c.1790T>C (p.Leu597Pro) rs8176038 0.02714
NM_001083116.3(PRF1):c.11G>A (p.Arg4His) rs35418374 0.02616
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=) rs34292743 0.02604
NM_000321.3(RB1):c.1216-29A>G rs3092886 0.02593
NM_004006.3(DMD):c.2623-11C>G rs1028360 0.02567
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075 0.02537
NM_152618.3(BBS12):c.1381A>C (p.Asn461His) rs10027479 0.02523
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961 0.02475
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187 0.02323
NM_001378454.1(ALMS1):c.11054G>A (p.Ser3685Asn) rs11896293 0.02293
NM_000552.5(VWF):c.7997C>T (p.Thr2666Met) rs78353028 0.02215
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_000426.4(LAMA2):c.8528A>G (p.Asn2843Ser) rs73599293 0.02196
NM_001297.5(CNGB1):c.2854G>A (p.Val952Met) rs79889567 0.02173
NM_012099.3(POLR1G):c.844A>G (p.Thr282Ala) rs3212989 0.02148
NM_002470.4(MYH3):c.3938C>T (p.Thr1313Ile) rs35230241 0.02138
NM_001378454.1(ALMS1):c.11266G>A (p.Gly3756Ser) rs34927702 0.02105
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129 0.02065
NM_004369.4(COL6A3):c.1786G>T (p.Ala596Ser) rs34934127 0.02035
NM_014297.5(ETHE1):c.61G>T (p.Ala21Ser) rs116440799 0.01995
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
NM_032551.5(KISS1R):c.565G>A (p.Ala189Thr) rs73507527 0.01935
NM_000391.4(TPP1):c.1266+5G>A rs1800753 0.01932
NM_001103.4(ACTN2):c.1810A>G (p.Met604Val) rs35997569 0.01914
NM_032119.4(ADGRV1):c.12592G>A (p.Val4198Met) rs2460169 0.01906
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01889
NM_003998.4(NFKB1):c.1519A>G (p.Met507Val) rs4648072 0.01884
NM_032444.4(SLX4):c.2824G>C (p.Glu942Gln) rs114014006 0.01879
NM_004937.3(CTNS):c.124G>A (p.Val42Ile) rs35086888 0.01867
NM_001097579.2(GPR34):c.884A>G (p.Asn295Ser) rs61746390 0.01840
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060 0.01800
NM_001378454.1(ALMS1):c.4154C>G (p.Thr1385Arg) rs115517108 0.01785
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His) rs11889925 0.01714
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382 0.01709
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro) rs6940875 0.01691
NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala) rs6889939 0.01679
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323 0.01675
NM_032119.4(ADGRV1):c.7813T>G (p.Leu2605Val) rs79915053 0.01674
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_001017995.3(SH3PXD2B):c.1062+15G>A rs111572530 0.01650
NM_199242.3(UNC13D):c.1579C>T (p.Arg527Trp) rs75366116 0.01644
NM_000071.3(CBS):c.*540G>A rs111386779 0.01634
NM_007055.4(POLR3A):c.1724A>T (p.Lys575Met) rs56214655 0.01630
NM_001384732.1(CPLANE1):c.5314A>G (p.Ser1772Gly) rs79377186 0.01627
NM_017819.4(TRMT10C):c.492G>C (p.Lys164Asn) rs16844031 0.01605
NM_016239.4(MYO15A):c.2238G>T (p.Arg746Ser) rs79760961 0.01604
NM_001127178.3(PIGG):c.1967C>T (p.Ala656Val) rs61749092 0.01599
NM_012452.3(TNFRSF13B):c.563A>T (p.Lys188Met) rs74811083 0.01589
NM_001197104.2(KMT2A):c.89C>G (p.Ala30Gly) rs9332745 0.01573
NM_021939.4(FKBP10):c.1400-4C>G rs114199361 0.01571
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952 0.01562
NM_198391.3(FLRT3):c.1129G>A (p.Ala377Thr) rs8120693 0.01560
NM_030962.4(SBF2):c.513+17G>C rs73410819 0.01551
NM_001127671.2(LIFR):c.1886-18C>T rs3729743 0.01528
NM_001378454.1(ALMS1):c.1144A>G (p.Thr382Ala) rs28730849 0.01527
NM_004525.3(LRP2):c.11759-5T>G rs76488092 0.01524
NM_006446.5(SLCO1B1):c.1200C>G (p.Phe400Leu) rs59113707 0.01516
NM_033087.4(ALG2):c.30C>G (p.Asp10Glu) rs7023652 0.01515
NM_018136.5(ASPM):c.7787T>C (p.Val2596Ala) rs79572771 0.01514
NM_001289.6(CLIC2):c.57+10C>T rs7050330 0.01508
NM_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln) rs74034910 0.01504
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362 0.01494
NM_005045.4(RELN):c.2932A>G (p.Thr978Ala) rs3025962 0.01491
NM_001272071.2(AP1S2):c.288T>C (p.Ser96=) rs61741688 0.01485
NM_001160372.4(TRAPPC9):c.1982-20A>C rs74414386 0.01477
NM_000098.3(CPT2):c.1055T>G (p.Phe352Cys) rs2229291 0.01469
NM_000136.3(FANCC):c.843+4C>T rs4647506 0.01468
NM_001277115.2(DNAH11):c.8969G>A (p.Arg2990His) rs72657371 0.01466
NM_001875.5(CPS1):c.3355G>A (p.Ala1119Thr) rs76340296 0.01465
NM_024592.5(SRD5A3):c.925C>G (p.His309Asp) rs61733673 0.01465
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370 0.01462
NM_001378183.1(PIEZO2):c.3941C>T (p.Ser1314Phe) rs9959296 0.01461
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_201384.3(PLEC):c.8012G>A (p.Arg2671Gln) rs28526657 0.01433
NM_020822.3(KCNT1):c.2943+6C>T rs28612938 0.01429
NM_020365.5(EIF2B3):c.975+9A>G rs79174967 0.01419
NM_054021.2(GPR101):c.712G>A (p.Val238Ile) rs139111924 0.01417
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_024753.5(TTC21B):c.1387C>T (p.Pro463Ser) rs16851307 0.01408
NM_020442.6(VARS2):c.1514C>T (p.Ser505Phe) rs61746524 0.01404
NM_001813.3(CENPE):c.4204A>G (p.Ile1402Val) rs35505100 0.01398
NM_000026.4(ADSL):c.440A>T (p.Lys147Met) rs11089991 0.01397
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser) rs3218673 0.01393
NM_005726.6(TSFM):c.754G>A (p.Val252Ile) rs114694283 0.01391
NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met) rs35785620 0.01390
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln) rs35824453 0.01388
NM_000048.4(ASL):c.1164C>T (p.His388=) rs75300185 0.01380
NM_002857.4(PEX19):c.879T>C (p.Gly293=) rs74125561 0.01375
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu) rs6262 0.01372
NM_001041.4(SI):c.517C>G (p.Pro173Ala) rs146960446 0.01365
NM_001048166.1(STIL):c.453+18C>T rs75983191 0.01360
NM_019109.5(ALG1):c.554T>G (p.Phe185Cys) rs112668461 0.01358
NM_020751.3(COG6):c.898C>T (p.His300Tyr) rs34555836 0.01351
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_001440.4(EXTL3):c.1324G>C (p.Val442Leu) rs116659770 0.01342
NM_017654.4(SAMD9):c.995T>C (p.Ile332Thr) rs76377166 0.01341
NM_020964.3(EPG5):c.7557+15T>C rs59817706 0.01339
NM_014639.4(SKIC3):c.130G>A (p.Val44Ile) rs114914951 0.01327
NM_014639.4(SKIC3):c.3092+19C>G rs144081410 0.01325
NM_001134831.2(AHI1):c.1152-11T>G rs113317693 0.01324
NM_003172.4(SURF1):c.167C>G (p.Ala56Gly) rs116779216 0.01318
NM_001379500.1(COL18A1):c.3823G>T (p.Val1275Leu) rs61736805 0.01313
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly) rs11203289 0.01309
NM_016579.4(CD320):c.769G>A (p.Glu257Lys) rs2232786 0.01308
NM_002087.4(GRN):c.55C>T (p.Arg19Trp) rs63750723 0.01303
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_001365951.3(KIF1B):c.5432C>T (p.Pro1811Leu) rs61999305 0.01293
NM_001374385.1(ATP8B1):c.1739G>A (p.Ser580Asn) rs33963153 0.01293
NM_021828.5(HPSE2):c.943G>A (p.Ala315Thr) rs17110744 0.01293
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709 0.01289
NM_001848.3(COL6A1):c.2042T>C (p.Ile681Thr) rs138884734 0.01280
NM_001184.4(ATR):c.4835A>G (p.Asn1612Ser) rs55894265 0.01275
NM_014780.5(CUL7):c.1846A>G (p.Ser616Gly) rs7774330 0.01270
NM_001379500.1(COL18A1):c.107-12566A>T rs61735029 0.01258
NM_198428.3(BBS9):c.1849A>C (p.Ile617Leu) rs34209904 0.01256
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg) rs76116949 0.01253
NM_001846.4(COL4A2):c.649-16C>T rs56269522 0.01248
NM_006416.5(SLC35A1):c.7G>T (p.Ala3Ser) rs149903512 0.01248
NM_000875.5(IGF1R):c.1463-5C>A rs36108138 0.01246
NM_031407.7(HUWE1):c.6031-4T>A rs139283158 0.01245
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_001371623.1(TCOF1):c.1229C>T (p.Ser410Leu) rs114326915 0.01242
NM_006929.5(SKIC2):c.970C>T (p.Arg324Trp) rs36038685 0.01237
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_024740.2(ALG9):c.764C>T (p.Ser255Leu) rs17113312 0.01232
NM_001063.4(TF):c.887A>G (p.Asp296Gly) rs8177238 0.01230
NM_000382.3(ALDH3A2):c.563C>T (p.Ala188Val) rs115977487 0.01228
NM_001353214.3(DYM):c.421A>G (p.Ser141Gly) rs61729806 0.01220
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) rs1800124 0.01216
NM_005045.4(RELN):c.8086G>A (p.Ala2696Thr) rs115640958 0.01215
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala) rs73063795 0.01215
NM_001277115.2(DNAH11):c.12561T>G (p.Asp4187Glu) rs148429731 0.01214
NM_024312.5(GNPTAB):c.2611G>A (p.Gly871Ser) rs56212569 0.01207
NM_018451.5(CENPJ):c.287A>G (p.His96Arg) rs61739263 0.01206
NM_016824.5(ADD3):c.304T>C (p.Ser102Pro) rs41291886 0.01203
NM_020435.4(GJC2):c.108C>T (p.Ile36=) rs75469429 0.01203
NM_032382.5(COG8):c.1591C>T (p.Pro531Ser) rs76253513 0.01202
NM_001041.4(SI):c.598A>G (p.Ser200Gly) rs113903766 0.01197
NM_025074.7(FRAS1):c.1769T>C (p.Met590Thr) rs35030041 0.01189
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361 0.01187
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792 0.01187
NM_001277115.2(DNAH11):c.3946A>G (p.Met1316Val) rs17144788 0.01186
NM_001370658.1(BTD):c.1224C>T (p.Tyr408=) rs35145938 0.01185
NM_001367561.1(DOCK7):c.2471T>C (p.Ile824Thr) rs35400360 0.01182
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920 0.01176
NM_006755.2(TALDO1):c.962A>G (p.Lys321Arg) rs11302 0.01176
NM_031407.7(HUWE1):c.5716+5G>A rs139135300 0.01175
NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu) rs115857753 0.01168
NM_001371986.1(UNC80):c.9503C>T (p.Pro3168Leu) rs61271372 0.01165
NM_017890.5(VPS13B):c.4247G>A (p.Arg1416Gln) rs75933366 0.01162
NM_001379500.1(COL18A1):c.1009G>A (p.Gly337Ser) rs76547444 0.01152
NM_001048166.1(STIL):c.2017A>G (p.Ser673Gly) rs140448154 0.01146
NM_153700.2(STRC):c.4127+8C>T rs2470137 0.01144
NM_001128178.3(NPHP1):c.689C>T (p.Ala230Val) rs113450177 0.01140
NM_001321218.2(B9D1):c.473-1G>C rs73980009 0.01140
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148 0.01138
NM_015338.6(ASXL1):c.2513A>G (p.Lys838Arg) rs35632616 0.01138
NM_018941.4(CLN8):c.274C>T (p.His92Tyr) rs34030778 0.01138
NM_032119.4(ADGRV1):c.5747C>T (p.Thr1916Ile) rs35791889 0.01134
NM_000424.4(KRT5):c.631G>A (p.Val211Met) rs147498164 0.01130
NM_001164508.2(NEB):c.23495C>T (p.Thr7832Ile) rs34368668 0.01129
NM_001298.3(CNGA3):c.592G>A (p.Glu198Lys) rs2271041 0.01129
NM_001101.5(ACTB):c.363+16C>T rs73332405 0.01128
NM_018965.4(TREM2):c.*73G>A rs2234258 0.01125
NM_014804.3(KIAA0753):c.2338C>T (p.Arg780Cys) rs73342622 0.01124
NM_001308093.3(GATA4):c.1141G>A (p.Val381Met) rs114868912 0.01121
NM_001367561.1(DOCK7):c.1460A>G (p.Lys487Arg) rs72913293 0.01118
NM_001379500.1(COL18A1):c.241C>T (p.Arg81Trp) rs76658745 0.01115
NM_005534.4(IFNGR2):c.544A>G (p.Lys182Glu) rs17878711 0.01107
NM_000212.3(ITGB3):c.40G>A (p.Val14Met) rs115600591 0.01103
NM_014795.4(ZEB2):c.930C>T (p.Tyr310=) rs6711223 0.01102
NM_001164688.2(RD3):c.584A>T (p.Asp195Val) rs143207434 0.01101
NM_002160.4(TNC):c.2620A>G (p.Ile874Val) rs61737743 0.01101
NM_032119.4(ADGRV1):c.7945+6C>T rs139278305 0.01100
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu) rs61733587 0.01098
NM_001845.6(COL4A1):c.279+20A>T rs79359215 0.01095
NM_017780.4(CHD7):c.4534-13T>G rs114996731 0.01094
NM_001159773.2(CANT1):c.967G>A (p.Ala323Thr) rs9903215 0.01090
NM_002972.4(SBF1):c.2127+4C>T rs151027707 0.01090
NM_001737.5(C9):c.379G>T (p.Asp127Tyr) rs696763 0.01089
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084 0.01088
NM_020987.5(ANK3):c.10953A>C (p.Lys3651Asn) rs115903343 0.01085
NM_006904.7(PRKDC):c.10376A>G (p.Asn3459Ser) rs8178228 0.01084
NM_201384.3(PLEC):c.5477G>A (p.Arg1826Gln) rs147838690 0.01083
NM_007254.4(PNKP):c.586T>A (p.Tyr196Asn) rs3739186 0.01081
NM_020987.5(ANK3):c.382A>G (p.Thr128Ala) rs114937210 0.01080
NM_020745.4(AARS2):c.1196A>G (p.Asn399Ser) rs113433939 0.01077
NM_130797.4(DPP6):c.227A>T (p.Asp76Val) rs572667303 0.01073
NM_001017995.3(SH3PXD2B):c.2477C>T (p.Pro826Leu) rs73317796 0.01063
NM_002633.3(PGM1):c.247-5664G>A rs77043134 0.01056
NM_004366.6(CLCN2):c.2271+8T>G rs114350071 0.01055
NM_006059.4(LAMC3):c.1792G>A (p.Gly598Arg) rs116422150 0.01053
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_001142416.2(AIMP1):c.310A>G (p.Thr104Ala) rs113844295 0.01050
NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys) rs17843865 0.01046
NM_001164277.2(SLC37A4):c.1275C>T (p.Ser425=) rs35010541 0.01045
NM_004525.3(LRP2):c.10804G>A (p.Ala3602Thr) rs144081819 0.01045
NM_004260.4(RECQL4):c.161A>G (p.Gln54Arg) rs35198096 0.01041
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112 0.01037
NM_001374504.1(TMPRSS6):c.1309C>T (p.Arg437Trp) rs117576908 0.01035
NM_033419.5(PGAP3):c.422C>G (p.Ala141Gly) rs35464006 0.01035
NM_030632.3(ASXL3):c.1409A>C (p.His470Pro) rs80040227 0.01034
NM_001194998.2(CEP152):c.1577+6G>A rs78525896 0.01033
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544 0.01031
NM_004525.3(LRP2):c.5293G>A (p.Val1765Met) rs116456291 0.01031
NM_152743.4(BRAT1):c.1867G>A (p.Gly623Ser) rs77015302 0.01031
NM_032861.4(SERAC1):c.89T>C (p.Ile30Thr) rs34270473 0.01029
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_001365276.2(TNXB):c.8132T>C (p.Ile2711Thr) rs28361051 0.01025
NM_003482.4(KMT2D):c.7670C>T (p.Pro2557Leu) rs189888707 0.01025
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448 0.01022
NM_001918.5(DBT):c.1281+6T>G rs140115881 0.01022
NM_001312909.2(FAM111A):c.310T>A (p.Leu104Ile) rs74658848 0.01021
NM_001369.3(DNAH5):c.13338+16C>T rs115271897 0.01021
NM_001849.4(COL6A2):c.2983G>A (p.Ala995Thr) rs35139588 0.01019
NM_003193.5(TBCE):c.998G>C (p.Ser333Thr) rs35579976 0.01018
NM_022095.4(ZNF335):c.1102+9T>C rs112458662 0.01017
NM_001673.5(ASNS):c.829G>A (p.Ala277Thr) rs2070159 0.01014
NM_016529.6(ATP8A2):c.1398-13T>G rs80107486 0.01012
NM_000124.4(ERCC6):c.1337G>A (p.Gly446Asp) rs4253047 0.01008
NM_007103.4(NDUFV1):c.1163-12del rs147787116 0.01006
NM_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly) rs117412802 0.01005
NM_007198.4(PLPBP):c.70G>A (p.Val24Met) rs35423325 0.01005
NM_207346.3(TSEN54):c.1328C>G (p.Ser443Cys) rs150169668 0.01002
NM_003072.5(SMARCA4):c.4635+12G>A rs34930626 0.01001
NM_032119.4(ADGRV1):c.3559A>G (p.Ile1187Val) rs16868935 0.01001
NM_004369.4(COL6A3):c.4184G>A (p.Arg1395Gln) rs80272723 0.01000
NM_001849.4(COL6A2):c.832G>A (p.Glu278Lys) rs61735835 0.00998
NM_015192.4(PLCB1):c.2191C>G (p.Pro731Ala) rs61755434 0.00997
NM_017837.4(PIGV):c.615C>T (p.Asn205=) rs34512715 0.00995
NM_006662.3(SRCAP):c.6495-8C>A rs75991082 0.00994
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln) rs199644078 0.00993
NM_000666.3(ACY1):c.536A>G (p.Asn179Ser) rs887540 0.00993
NM_001017995.3(SH3PXD2B):c.1543G>A (p.Asp515Asn) rs62621449 0.00992
NM_001360.3(DHCR7):c.99-4G>A rs140748737 0.00988
NM_145262.4(GLYCTK):c.1181C>T (p.Thr394Ile) rs9813489 0.00984
NM_001360.3(DHCR7):c.25A>T (p.Ile9Phe) rs115595829 0.00983
NM_198428.3(BBS9):c.1646C>T (p.Thr549Ile) rs59252892 0.00979
NM_001291303.3(FAT4):c.10810A>C (p.Ile3604Leu) rs76491994 0.00978
NM_013335.4(GMPPA):c.40+15G>A rs80239182 0.00978
NM_005445.4(SMC3):c.1092-8T>G rs79912955 0.00975
NM_007325.5(GRIA3):c.1501-8T>A rs139058646 0.00969
NM_019066.5(MAGEL2):c.2611G>T (p.Ala871Ser) rs2233066 0.00969
NM_019066.5(MAGEL2):c.2612C>T (p.Ala871Val) rs74004212 0.00969
NM_032444.4(SLX4):c.2746G>T (p.Ala916Ser) rs79448721 0.00968
NM_000521.4(HEXB):c.449C>A (p.Thr150Asn) rs148268937 0.00967
NM_004408.4(DNM1):c.1905+17C>T rs115623280 0.00965
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018 0.00964
NM_004408.4(DNM1):c.1894-18G>T rs116335289 0.00963
NM_022786.3(ARV1):c.94T>C (p.Tyr32His) rs34745784 0.00963
NM_001369.3(DNAH5):c.6703T>G (p.Leu2235Val) rs115109673 0.00961
NM_032119.4(ADGRV1):c.1839+7G>A rs142011700 0.00957
NM_001083614.2(EARS2):c.1412A>C (p.Lys471Thr) rs137973249 0.00954
NM_004525.3(LRP2):c.1167T>G (p.Asp389Glu) rs111704488 0.00952
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile) rs115970214 0.00950
NM_005138.3(SCO2):c.776C>T (p.Ala259Val) rs8139305 0.00949
NM_152783.5(D2HGDH):c.1063G>A (p.Gly355Ser) rs139321130 0.00949
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209 0.00948
NM_022124.6(CDH23):c.7630T>C (p.Leu2544=) rs114819374 0.00947
NM_001457.4(FLNB):c.1919C>T (p.Thr640Met) rs62621999 0.00943
NM_014946.4(SPAST):c.879G>A (p.Pro293=) rs145264166 0.00943
NM_001042681.2(RERE):c.879+20C>T rs77037803 0.00942
NM_003126.4(SPTA1):c.6559A>G (p.Lys2187Glu) rs111980420 0.00939
NM_001136193.2(FASTKD2):c.-51A>G rs116297724 0.00938
NM_054012.4(ASS1):c.766G>A (p.Glu256Lys) rs74923032 0.00937
NM_022726.4(ELOVL4):c.814G>C (p.Glu272Gln) rs148919174 0.00936
NM_152743.4(BRAT1):c.1135-8C>A rs113613637 0.00936
NM_017668.3(NDE1):c.572C>T (p.Thr191Ile) rs113493697 0.00935
NM_199355.4(ADAMTS18):c.35C>G (p.Pro12Arg) rs200952997 0.00932
NM_004260.4(RECQL4):c.1879-15C>A rs35126141 0.00929
NM_170707.4(LMNA):c.1158-44C>T rs141879453 0.00929
NM_001369.3(DNAH5):c.6579+20G>A rs115382993 0.00928
NM_015713.5(RRM2B):c.48+273G>T rs149523343 0.00928
NM_020822.3(KCNT1):c.3388G>A (p.Ala1130Thr) rs138421850 0.00928
NM_001292063.2(OTOG):c.2512G>C (p.Gly838Arg) rs61734214 0.00925
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_020686.6(ABAT):c.603+3G>A rs41312254 0.00925
NM_001848.3(COL6A1):c.2424G>T (p.Gln808His) rs140547835 0.00922
NM_032444.4(SLX4):c.4115G>A (p.Arg1372Gln) rs79174372 0.00921
NM_000637.5(GSR):c.334-5T>A rs28641651 0.00920
NM_001963.6(EGF):c.3127C>T (p.Leu1043Phe) rs11569098 0.00920
NM_000124.4(ERCC6):c.3659C>T (p.Thr1220Ile) rs34704611 0.00919
NM_000751.3(CHRND):c.243C>T (p.His81=) rs115841867 0.00919
NM_033087.4(ALG2):c.17G>C (p.Gly6Ala) rs180849348 0.00918
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176 0.00917
NM_004826.4(ECEL1):c.967-7C>G rs76735188 0.00917
NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843 0.00914
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052 0.00910
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00910
NM_001278689.2(EOGT):c.562A>T (p.Lys188Ter) rs116711473 0.00908
NM_004836.7(EIF2AK3):c.1756A>T (p.Ile586Leu) rs75385605 0.00906
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468 0.00905
NM_014244.5(ADAMTS2):c.1993G>A (p.Gly665Arg) rs35372714 0.00904
NM_005529.7(HSPG2):c.10702G>A (p.Val3568Ile) rs115616224 0.00899
NM_001384140.1(PCDH15):c.92-493A>T rs77290854 0.00896
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr) rs191886831 0.00894
NM_001128227.3(GNE):c.-10G>A rs73449614 0.00894
NM_006059.4(LAMC3):c.2516C>T (p.Thr839Met) rs57816762 0.00893
NM_018941.4(CLN8):c.685C>G (p.Pro229Ala) rs150047904 0.00893
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr) rs61995747 0.00892
NM_000428.3(LTBP2):c.1790-17G>A rs147282006 0.00890
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_001346754.2(PIGW):c.705C>G (p.His235Gln) rs61755368 0.00885
NM_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
NM_001202.6(BMP4):c.370+28G>A rs72680532 0.00883
NM_001104631.2(PDE4D):c.809-124C>A rs16889108 0.00881
NM_016529.6(ATP8A2):c.2278G>A (p.Val760Met) rs35540339 0.00881
NM_001059.3(TACR3):c.857A>G (p.Lys286Arg) rs2276973 0.00877
NM_024298.5(MBOAT7):c.1364G>A (p.Arg455Gln) rs79199039 0.00877
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053 0.00876
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn) rs79040751 0.00875
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_153766.3(KCNJ1):c.199A>G (p.Thr67Ala) rs41302407 0.00872
NM_014159.7(SETD2):c.2543C>T (p.Ala848Val) rs75248784 0.00870
NM_006331.8(EMG1):c.38G>T (p.Arg13Leu) rs36061201 0.00869
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104 0.00867
NM_004370.6(COL12A1):c.8237T>C (p.Val2746Ala) rs34369939 0.00867
NM_203447.4(DOCK8):c.3840+3A>G rs16938572 0.00865
NM_001024630.4(RUNX2):c.1531G>A (p.Gly511Ser) rs11498198 0.00864
NM_001918.5(DBT):c.724T>C (p.Ser242Pro) rs146249007 0.00864
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000478.6(ALPL):c.1381G>A (p.Val461Ile) rs34810399 0.00860
NM_015335.5(MED13L):c.4744T>A (p.Ser1582Thr) rs150222863 0.00860
NM_004840.3(ARHGEF6):c.891G>T (p.Gln297His) rs5974620 0.00857
NM_006059.4(LAMC3):c.2039C>T (p.Thr680Met) rs73658916 0.00851
NM_018648.4(NOP10):c.34G>C (p.Asp12His) rs146261631 0.00851
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg) rs73074138 0.00851
NM_001034853.2(RPGR):c.2411G>A (p.Arg804Lys) rs147388235 0.00850
NM_002544.5(OMG):c.1304T>C (p.Val435Ala) rs16972169 0.00849
NM_020461.4(TUBGCP6):c.3307C>T (p.Arg1103Trp) rs61739385 0.00849
NM_032444.4(SLX4):c.710G>A (p.Arg237Gln) rs138615800 0.00848
NM_000088.4(COL1A1):c.1615-4C>A rs41316657 0.00846
NM_007117.5(TRH):c.248G>A (p.Arg83His) rs61740106 0.00846
NM_001163809.2(WDR81):c.5325+6G>C rs115714169 0.00845
NM_152783.5(D2HGDH):c.43C>G (p.Arg15Gly) rs4675887 0.00845
NM_006721.4(ADK):c.195-18A>G rs144492760 0.00844
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750 0.00844
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met) rs115582213 0.00841
NM_001330078.2(NRXN1):c.772+1140G>A rs61658382 0.00837
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys) rs143524436 0.00835
NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser) rs2229558 0.00834
NM_024596.5(MCPH1):c.1738A>G (p.Ser580Gly) rs17076894 0.00834
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287 0.00833
NM_003502.4(AXIN1):c.2186+7C>T rs189357878 0.00833
NM_020987.5(ANK3):c.2615-6882A>G rs41283526 0.00832
NM_020549.5(CHAT):c.1682G>A (p.Arg561Gln) rs80097077 0.00825
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393 0.00824
NM_006495.4(EVI2B):c.157G>A (p.Gly53Arg) rs9903564 0.00823
NM_020435.4(GJC2):c.947C>T (p.Pro316Leu) rs760502262 0.00823
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721 0.00820
NM_020921.4(NIN):c.264A>T (p.Pro88=) rs61755037 0.00815
NM_030787.4(CFHR5):c.832G>A (p.Gly278Ser) rs139017763 0.00815
NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu) rs2229761 0.00814
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982 0.00814
NM_001308210.2(TSHZ1):c.503C>T (p.Thr168Ile) rs112669427 0.00814
NM_001378454.1(ALMS1):c.8835C>G (p.Asn2945Lys) rs35062203 0.00814
NM_001184.4(ATR):c.268C>T (p.His90Tyr) rs28897763 0.00813
NM_001080517.3(SETD5):c.3409A>G (p.Met1137Val) rs13327456 0.00812
NM_020745.4(AARS2):c.2629C>T (p.Arg877Trp) rs112247130 0.00812
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_001369.3(DNAH5):c.6919G>A (p.Val2307Ile) rs74604638 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_014363.6(SACS):c.12649A>G (p.Asn4217Asp) rs35799469 0.00804
NM_020812.4(DOCK6):c.3913C>T (p.Arg1305Cys) rs112911897 0.00801
NM_013296.5(GPSM2):c.1820C>T (p.Ser607Phe) rs35322815 0.00800
NM_000069.3(CACNA1S):c.895T>C (p.Tyr299His) rs35856559 0.00797
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe) rs62109744 0.00795
NM_016006.6(ABHD5):c.341G>T (p.Arg114Leu) rs148743497 0.00793
NM_005689.4(ABCB6):c.1562C>G (p.Thr521Ser) rs149363094 0.00792
NM_018100.4(EFHC1):c.229C>A (p.Pro77Thr) rs149055334 0.00789
NM_015909.4(NBAS):c.1093G>C (p.Asp365His) rs76459791 0.00787
NM_018139.3(DNAAF2):c.1367C>T (p.Pro456Leu) rs137991407 0.00785
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His) rs111033470 0.00784
NM_001244008.2(KIF1A):c.5021+16C>T rs138847355 0.00783
NM_001625.4(AK2):c.625G>A (p.Ala209Thr) rs12116440 0.00783
NM_001085372.3(UQCC3):c.226T>G (p.Trp76Gly) rs143509965 0.00781
NM_198576.4(AGRN):c.4540G>A (p.Ala1514Thr) rs111818381 0.00781
NM_015330.6(SPECC1L):c.562C>T (p.Leu188Phe) rs56168869 0.00780
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr) rs138787974 0.00778
NM_018100.4(EFHC1):c.662G>A (p.Arg221His) rs79761183 0.00778
NM_014363.6(SACS):c.8344G>A (p.Ala2782Thr) rs61742502 0.00775
NM_005912.3(MC4R):c.751A>C (p.Ile251Leu) rs52820871 0.00774
NM_001039591.3(USP9X):c.4603+19A>G rs55900117 0.00771
NM_001277115.2(DNAH11):c.7812-18C>G rs147865931 0.00771
NM_006031.6(PCNT):c.7159G>A (p.Val2387Met) rs75024419 0.00771
NM_052865.4(MGME1):c.794C>T (p.Thr265Ile) rs76599088 0.00768
NM_001367624.2(ZNF469):c.4363C>G (p.Leu1455Val) rs116532825 0.00765
NM_015425.6(POLR1A):c.1187G>A (p.Ser396Asn) rs35443467 0.00763
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00760
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736 0.00760
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) rs56177950 0.00760
NM_006031.6(PCNT):c.7404G>C (p.Gln2468His) rs77075366 0.00759
NM_173076.3(ABCA12):c.5617G>A (p.Val1873Ile) rs114258385 0.00759
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe) rs147155126 0.00758
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320 0.00758
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_025077.4(TOE1):c.1141G>A (p.Glu381Lys) rs61323219 0.00757
NM_181332.3(NLGN4X):c.897A>G (p.Ile299Met) rs151073358 0.00757
NM_007059.4(KPTN):c.631G>C (p.Gly211Arg) rs182019900 0.00755
NM_018136.5(ASPM):c.9773A>G (p.His3258Arg) rs7528827 0.00754
NM_000617.3(SLC11A2):c.1422-18T>A rs11834061 0.00753
NM_144988.4(ALG14):c.31G>A (p.Ala11Thr) rs34364382 0.00753
NM_001367624.2(ZNF469):c.5087C>T (p.Pro1696Leu) rs115487796 0.00752
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442 0.00751
NM_001830.4(CLCN4):c.244+4C>G rs192492405 0.00750
NM_001005361.3(DNM2):c.235+6A>G rs113192269 0.00748
NM_005045.4(RELN):c.6343G>A (p.Gly2115Ser) rs116716038 0.00747
NM_006766.5(KAT6A):c.4324G>A (p.Ala1442Thr) rs113195648 0.00745
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943 0.00744
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_001080510.5(METTL23):c.136G>C (p.Glu46Gln) rs114299201 0.00742
NM_015311.3(OBSL1):c.3649G>A (p.Glu1217Lys) rs72957510 0.00742
NM_024411.5(PDYN):c.575A>T (p.Glu192Val) rs45469293 0.00742
NM_153766.3(KCNJ1):c.1013T>C (p.Met338Thr) rs59172778 0.00742
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=) rs111033477 0.00740
NM_015311.3(OBSL1):c.3950T>A (p.Leu1317Gln) rs115283876 0.00740
NM_001018115.3(FANCD2):c.195G>C (p.Gln65His) rs36084488 0.00738
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601 0.00738
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_004984.4(KIF5A):c.820-19G>T rs181688415 0.00736
NM_003793.4(CTSF):c.1261C>T (p.Arg421Trp) rs28464796 0.00735
NM_004525.3(LRP2):c.10403C>T (p.Pro3468Leu) rs143367996 0.00734
NM_018013.4(SOBP):c.319A>G (p.Thr107Ala) rs148915050 0.00734
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783 0.00733
NM_019066.5(MAGEL2):c.1079C>T (p.Ala360Val) rs111759069 0.00733
NM_004425.4(ECM1):c.1100A>T (p.Asp367Val) rs151102225 0.00732
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr) rs141933811 0.00728
NM_015338.6(ASXL1):c.3498C>G (p.Ser1166Arg) rs75887545 0.00728
NM_001303.4(COX10):c.682C>T (p.Arg228Cys) rs114521946 0.00727
NM_001374828.1(ARID1B):c.2629C>T (p.Pro877Ser) rs114201726 0.00727
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln) rs7969410 0.00727
NM_000476.3(AK1):c.484G>A (p.Ala162Thr) rs35902264 0.00726
NM_024537.4(CARS2):c.1624-12C>G rs115116722 0.00724
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509 0.00723
NM_014804.3(KIAA0753):c.1756A>G (p.Lys586Glu) rs61735441 0.00722
NM_052945.4(TNFRSF13C):c.191G>T (p.Gly64Val) rs547352394 0.00722
NM_015192.4(PLCB1):c.458A>T (p.Glu153Val) rs45496299 0.00721
NM_001082538.3(TCTN1):c.220+12G>C rs76843552 0.00719
NM_001365999.1(SZT2):c.5025-17A>G rs149950330 0.00719
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855 0.00718
NM_001365999.1(SZT2):c.7573G>A (p.Val2525Ile) rs139486476 0.00717
NM_001379500.1(COL18A1):c.3352G>A (p.Ala1118Thr) rs113268527 0.00717
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys) rs141703710 0.00717
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381 0.00715
NM_018965.4(TREM2):c.185G>A (p.Arg62His) rs143332484 0.00714
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe) rs117125761 0.00708
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys) rs41549716 0.00708
NM_001379500.1(COL18A1):c.3673G>A (p.Val1225Met) rs77326997 0.00707
NM_022464.5(SIL1):c.239A>G (p.Gln80Arg) rs35581768 0.00706
NM_198576.4(AGRN):c.1660G>A (p.Val554Met) rs79016973 0.00706
NM_001008537.3(NEXMIF):c.151C>A (p.Pro51Thr) rs145018752 0.00705
NM_013339.4(ALG6):c.751A>G (p.Thr251Ala) rs61755863 0.00705
NM_014043.4(CHMP2B):c.560G>A (p.Ser187Asn) rs78268395 0.00705
NM_014363.6(SACS):c.4118C>T (p.Ala1373Val) rs61548169 0.00705
NM_001244008.2(KIF1A):c.4318+17C>T rs138964333 0.00704
NM_003922.4(HERC1):c.2521-20C>T rs78084910 0.00704
NM_005726.6(TSFM):c.796C>A (p.Leu266Ile) rs62000432 0.00702
NM_002206.3(ITGA7):c.1281+13G>A rs143895796 0.00701
NM_001025389.2(AMPD3):c.931G>T (p.Val311Leu) rs117706710 0.00700
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_001378778.1(MPDZ):c.1990T>C (p.Phe664Leu) rs149169783 0.00699
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387 0.00699
NM_001543.5(NDST1):c.1970+10C>T rs75978931 0.00697
NM_152464.3(TMEM199):c.256T>C (p.Tyr86His) rs35276012 0.00696
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165 0.00694
NM_181486.4(TBX5):c.982+16C>T rs28730762 0.00694
NM_006063.3(KLHL41):c.1441A>G (p.Met481Val) rs34623017 0.00692
NM_020461.4(TUBGCP6):c.4821+14C>T rs55985560 0.00692
NM_002618.4(PEX13):c.674A>G (p.Asp225Gly) rs116059308 0.00690
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722 0.00690
NM_198576.4(AGRN):c.3077C>A (p.Thr1026Asn) rs3813188 0.00690
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) rs55685423 0.00688
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594 0.00688
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224 0.00687
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839 0.00687
NM_000287.4(PEX6):c.2936C>T (p.Ala979Val) rs115180949 0.00686
NM_018684.4(ZC4H2):c.398+19G>T rs140551642 0.00686
NM_005120.3(MED12):c.5650G>A (p.Gly1884Ser) rs147354926 0.00685
NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe) rs150895887 0.00683
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656 0.00682
NM_000320.3(QDPR):c.105+17G>A rs149373480 0.00682
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643 0.00681
NM_022124.6(CDH23):c.1096G>A (p.Ala366Thr) rs143282422 0.00680
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077 0.00679
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836 0.00678
NM_005529.7(HSPG2):c.9719C>T (p.Ala3240Val) rs62642505 0.00677
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile) rs151091241 0.00676
NM_152743.4(BRAT1):c.962T>G (p.Leu321Arg) rs150942467 0.00675
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265 0.00674
NM_016373.4(WWOX):c.613C>A (p.His205Asn) rs74860463 0.00674
NM_002206.3(ITGA7):c.459C>G (p.Ile153Met) rs149000088 0.00672
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044 0.00672
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344 0.00668
NM_173602.3(DIP2B):c.793G>A (p.Asp265Asn) rs73093419 0.00668
NM_017721.5(CC2D1A):c.980C>T (p.Ser327Leu) rs200121704 0.00665
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys) rs117603931 0.00662
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro) rs4988111 0.00660
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe) rs140029076 0.00658
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00655
NM_013275.6(ANKRD11):c.6106G>A (p.Asp2036Asn) rs201636725 0.00654
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307 0.00653
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_012472.6(DNAAF11):c.914+13A>G rs113135637 0.00652
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302 0.00650
NM_003413.4(ZIC3):c.649C>G (p.Pro217Ala) rs104894963 0.00650
NM_018714.3(COG1):c.1049C>T (p.Thr350Met) rs117344829 0.00650
NM_000215.4(JAK3):c.452C>G (p.Pro151Arg) rs55778349 0.00647
NM_001278064.2(GRM1):c.3214C>G (p.Pro1072Ala) rs146753539 0.00646
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser) rs34135067 0.00646
NM_004415.4(DSP):c.*9T>A rs11558732 0.00645
NM_006059.4(LAMC3):c.146A>G (p.Gln49Arg) rs201962705 0.00645
NM_032119.4(ADGRV1):c.10769+9A>G rs116184119 0.00645
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937 0.00644
NM_003737.4(DCHS1):c.1245C>A (p.Ser415Arg) rs117368891 0.00644
NM_006302.3(MOGS):c.1838G>A (p.Arg613Gln) rs142032474 0.00643
NM_001352514.2(HLCS):c.1969G>A (p.Gly657Arg) rs75867009 0.00642
NM_001160372.4(TRAPPC9):c.2797G>A (p.Gly933Ser) rs114949291 0.00641
NM_002470.4(MYH3):c.3592G>A (p.Ala1198Thr) rs61735358 0.00641
NM_017721.5(CC2D1A):c.1823+15C>G rs139110235 0.00641
NM_002317.7(LOX):c.476C>A (p.Pro159Gln) rs41407546 0.00640
NM_004393.6(DAG1):c.259A>G (p.Ile87Val) rs116717961 0.00640
NM_001271938.2(MEGF8):c.7673C>T (p.Pro2558Leu) rs147216997 0.00639
NM_001379500.1(COL18A1):c.107-12656C>T rs7277693 0.00639
NM_012280.4(FTSJ1):c.307C>G (p.Gln103Glu) rs78979358 0.00639
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile) rs138127778 0.00637
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00636
NM_002206.3(ITGA7):c.1609C>T (p.Arg537Trp) rs61733050 0.00636
NM_022095.4(ZNF335):c.1963C>T (p.Pro655Ser) rs117132825 0.00636
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303 0.00633
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571 0.00632
NM_001197104.2(KMT2A):c.158C>T (p.Ala53Val) rs9332747 0.00631
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser) rs111033362 0.00631
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met) rs75548401 0.00627
NM_015937.6(PIGT):c.367G>T (p.Val123Leu) rs141420243 0.00626
NM_001379286.1(ZNF423):c.3164C>T (p.Ala1055Val) rs111229124 0.00625
NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val) rs2020957 0.00625
NM_001378964.1(CDON):c.2051C>G (p.Thr684Ser) rs145983470 0.00624
NM_173630.4(RTTN):c.6445G>A (p.Ala2149Thr) rs34989098 0.00624
NM_198569.3(ADGRG6):c.794G>C (p.Gly265Ala) rs111589388 0.00623
NM_015158.5(KANK1):c.2896+18C>T rs113240136 0.00622
NM_000170.3(GLDC):c.2919+3A>G rs73639325 0.00620
NM_033453.4(ITPA):c.278A>G (p.Glu93Gly) rs34982958 0.00620
NM_000287.4(PEX6):c.2770G>T (p.Ala924Ser) rs34551839 0.00619
NM_000243.3(MEFV):c.*9C>T rs11466048 0.00618
NM_004366.6(CLCN2):c.143C>G (p.Pro48Arg) rs115661422 0.00618
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met) rs138407503 0.00618
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser) rs34737974 0.00618
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu) rs114819130 0.00617
NM_015158.5(KANK1):c.149A>T (p.Asp50Val) rs61737971 0.00617
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser) rs16020 0.00616
NM_017838.4(NHP2):c.302G>A (p.Arg101Gln) rs145890370 0.00615
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509 0.00615
NM_000081.4(LYST):c.10941-7C>A rs72761794 0.00614
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441 0.00614
NM_001197104.2(KMT2A):c.1504G>A (p.Glu502Lys) rs9332772 0.00614
NM_004369.4(COL6A3):c.4285+9G>A rs75780727 0.00613
NM_015404.4(WHRN):c.229A>T (p.Thr77Ser) rs56204273 0.00613
NM_006416.5(SLC35A1):c.19A>C (p.Asn7His) rs114156788 0.00612
NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln) rs114276563 0.00611
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728 0.00609
NM_012418.4(FSCN2):c.412C>T (p.His138Tyr) rs143796236 0.00609
NM_015346.4(ZFYVE26):c.2887G>C (p.Val963Leu) rs116890187 0.00606
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val) rs11545035 0.00605
NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val) rs184420466 0.00604
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_017429.3(BCO1):c.1622G>A (p.Cys541Tyr) rs141781255 0.00604
NM_001010898.4(SLC6A17):c.2036A>G (p.Lys679Arg) rs41313405 0.00603
NM_004369.4(COL6A3):c.4183C>T (p.Arg1395Trp) rs73998894 0.00603
NM_004369.4(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501 0.00602
NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023 0.00601
NM_001670.3(ARVCF):c.1616G>A (p.Arg539Gln) rs16982871 0.00600
NM_002855.5(NECTIN1):c.988G>A (p.Glu330Lys) rs150553818 0.00600
NM_006662.3(SRCAP):c.4603C>G (p.Pro1535Ala) rs117804715 0.00599
NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val) rs146253630 0.00599
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724 0.00599
NM_001195248.2(APTX):c.596G>A (p.Arg199His) rs150886026 0.00598
NM_006059.4(LAMC3):c.2438G>A (p.Ser813Asn) rs55741126 0.00598
NM_152743.4(BRAT1):c.866G>C (p.Cys289Ser) rs140451075 0.00598
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_001126108.2(SLC12A3):c.1539C>T (p.Tyr513=) rs146805986 0.00597
NM_020639.3(RIPK4):c.2101C>T (p.Pro701Ser) rs35537517 0.00597
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp) rs187964306 0.00596
NM_001365276.2(TNXB):c.7297G>A (p.Val2433Ile) rs17207902 0.00594
NM_004006.3(DMD):c.2143A>T (p.Thr715Ser) rs16998350 0.00594
NM_054012.4(ASS1):c.106-10T>G rs73541957 0.00593
NM_014495.4(ANGPTL3):c.379C>T (p.Leu127Phe) rs72649573 0.00591
NM_000693.4(ALDH1A3):c.43A>G (p.Arg15Gly) rs1130737 0.00590
NM_001374828.1(ARID1B):c.3106G>A (p.Gly1036Ser) rs34786733 0.00590
NM_000492.4(CFTR):c.164+28A>G rs34010645 0.00589
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896 0.00589
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val) rs34870424 0.00587
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338 0.00584
NM_001084.5(PLOD3):c.1144G>C (p.Asp382His) rs41281013 0.00583
NM_030773.4(TUBB1):c.1075C>T (p.Arg359Trp) rs140943896 0.00583
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys) rs142558269 0.00581
NM_000383.4(AIRE):c.497C>T (p.Pro166Leu) rs11910214 0.00580
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610 0.00580
NM_001358921.2(COQ2):c.424A>G (p.Thr142Ala) rs144913206 0.00580
NM_001358921.2(COQ2):c.437A>G (p.Asn146Ser) rs150295921 0.00580
NM_005631.5(SMO):c.1939C>T (p.Pro647Ser) rs34545616 0.00579
NM_002435.3(MPI):c.982C>T (p.Arg328Trp) rs117089191 0.00577
NM_003619.4(PRSS12):c.1270G>A (p.Val424Ile) rs77322543 0.00577
NM_018943.3(TUBA8):c.250C>T (p.Arg84Cys) rs115847686 0.00577
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444 0.00577
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_001118887.2(ANGPT2):c.994G>A (p.Val332Ile) rs7813215 0.00576
NM_001378457.1(DMXL2):c.2707A>G (p.Asn903Asp) rs16953073 0.00576
NM_001130438.3(SPTAN1):c.3520-14C>G rs142682344 0.00575
NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser) rs111738042 0.00575
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys) rs11540832 0.00574
NM_001358921.2(COQ2):c.194A>C (p.Asp65Ala) rs375934957 0.00574
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His) rs73969684 0.00574
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997 0.00574
NM_017755.6(NSUN2):c.2143G>A (p.Val715Ile) rs112951498 0.00574
NM_003922.4(HERC1):c.11036G>A (p.Arg3679His) rs143508709 0.00573
NM_014908.4(DOLK):c.1dup (p.Met1fs) rs531969689 0.00573
NM_020699.4(GATAD2B):c.676C>G (p.Pro226Ala) rs115193744 0.00573
NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro) rs61734466 0.00572
NM_006662.3(SRCAP):c.3302C>A (p.Thr1101Lys) rs149248373 0.00571
NM_004341.5(CAD):c.6343G>C (p.Val2115Leu) rs61737365 0.00570
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys) rs35462421 0.00570
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406 0.00570
NM_001972.4(ELANE):c.770C>T (p.Pro257Leu) rs17216663 0.00569
NM_014822.4(SEC24D):c.578C>T (p.Pro193Leu) rs6844109 0.00569
NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg) rs34132016 0.00569
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324 0.00568
NM_001605.3(AARS1):c.64G>A (p.Glu22Lys) rs151091410 0.00568
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_016529.6(ATP8A2):c.3075+19T>C rs41291650 0.00567
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn) rs34398445 0.00566
NM_001194998.2(CEP152):c.3278G>A (p.Cys1093Tyr) rs74012142 0.00563
NM_001370595.2(COA8):c.224A>G (p.Asn75Ser) rs35960830 0.00562
NM_020066.5(FMN2):c.2657T>G (p.Met886Arg) rs146874723 0.00562
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502 0.00561
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00561
NM_000515.5(GH1):c.406G>A (p.Val136Ile) rs5388 0.00560
NM_004525.3(LRP2):c.11092G>A (p.Val3698Met) rs34355135 0.00560
NM_025150.5(TARS2):c.1034A>G (p.His345Arg) rs115390773 0.00560
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala) rs79182085 0.00560
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met) rs73973147 0.00558
NM_000135.4(FANCA):c.1359+10C>T rs34159559 0.00557
NM_000426.4(LAMA2):c.4437-5T>A rs41285288 0.00557
NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr) rs149601594 0.00556
NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly) rs142404759 0.00555
NM_006129.5(BMP1):c.2234-20C>T rs142089697 0.00555
NM_003922.4(HERC1):c.4714T>G (p.Ser1572Ala) rs16947363 0.00553
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_004104.5(FASN):c.2155G>A (p.Glu719Lys) rs12946178 0.00551
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476 0.00551
NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp) rs118147866 0.00549
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=) rs41311573 0.00548
NM_003072.5(SMARCA4):c.222+14T>C rs112825147 0.00548
NM_004044.7(ATIC):c.1670C>T (p.Ala557Val) rs76436141 0.00548
NM_018013.4(SOBP):c.1615A>G (p.Ile539Val) rs146747167 0.00548
NM_024589.3(ROGDI):c.713G>A (p.Arg238His) rs138409264 0.00548
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys) rs2307450 0.00547
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457 0.00545
NM_024740.2(ALG9):c.1383C>T (p.Thr461=) rs45516107 0.00545
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu) rs57474185 0.00543
NM_004366.6(CLCN2):c.203G>A (p.Arg68His) rs61729156 0.00541
NM_017433.5(MYO3A):c.4465A>G (p.Ile1489Val) rs147376000 0.00541
NM_017866.6(TMEM70):c.684C>G (p.Asn228Lys) rs35564486 0.00541
NM_002894.3(RBBP8):c.1071A>C (p.Lys357Asn) rs34678569 0.00540
NM_006420.3(ARFGEF2):c.169C>T (p.Pro57Ser) rs73113975 0.00540
NM_020708.5(SLC12A5):c.1189A>T (p.Thr397Ser) rs34058554 0.00540
NM_000065.5(C6):c.542C>T (p.Thr181Ile) rs114609505 0.00539
NM_001035.3(RYR2):c.14809-15C>G rs790897 0.00538
NM_004247.4(EFTUD2):c.1058+3_1058+7del rs536749831 0.00538
NM_019023.5(PRMT7):c.1718G>A (p.Ser573Asn) rs61745807 0.00538
NM_080425.4(GNAS):c.1798C>G (p.Arg600Gly) rs74897360 0.00538
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001 0.00537
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_004933.3(CDH15):c.1876C>T (p.Leu626Phe) rs78261372 0.00536
NM_001371928.1(AHDC1):c.1411G>A (p.Val471Met) rs147276945 0.00535
NM_003124.5(SPR):c.112G>A (p.Val38Ile) rs146099322 0.00535
NM_007286.6(SYNPO):c.814C>T (p.Pro272Ser) rs146345840 0.00534
NM_001329943.3(KIAA0586):c.422T>C (p.Met141Thr) rs61735931 0.00533
NM_007118.4(TRIO):c.2588-12T>A rs146739260 0.00533
NM_020987.5(ANK3):c.6953A>G (p.Lys2318Arg) rs59021407 0.00532
NM_007137.5(ZNF81):c.470A>G (p.Asn157Ser) rs41312157 0.00531
NM_000642.3(AGL):c.4430C>G (p.Thr1477Ser) rs78348923 0.00530
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) rs138789658 0.00530
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr) rs193074572 0.00529
NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala) rs11554412 0.00529
NM_173630.4(RTTN):c.6038G>T (p.Cys2013Phe) rs145976466 0.00528
NM_182914.3(SYNE2):c.17561T>C (p.Leu5854Pro) rs117070973 0.00528
NM_001286577.2(C2CD3):c.3695A>G (p.Asn1232Ser) rs140307393 0.00525
NM_001365951.3(KIF1B):c.2115+6956A>G rs148481786 0.00525
NM_015386.3(COG4):c.1759C>A (p.Gln587Lys) rs113455884 0.00524
NM_213599.3(ANO5):c.2354T>G (p.Leu785Arg) rs146136277 0.00524
NM_002087.4(GRN):c.1297C>T (p.Arg433Trp) rs63750412 0.00523
NM_016373.4(WWOX):c.358C>T (p.Arg120Trp) rs141361080 0.00523
NM_025137.4(SPG11):c.4687A>G (p.Arg1563Gly) rs75430389 0.00523
NM_001374353.1(GLI2):c.3539G>A (p.Gly1180Asp) rs114823319 0.00522
NM_145691.4(ATPAF2):c.511G>A (p.Val171Met) rs62073570 0.00522
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00521
NM_005199.5(CHRNG):c.1516C>T (p.Pro506Ser) rs71421651 0.00520
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_003737.4(DCHS1):c.379G>A (p.Val127Ile) rs112402535 0.00518
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val) rs79708859 0.00517
NM_032119.4(ADGRV1):c.9607T>A (p.Ser3203Thr) rs116480183 0.00517
NM_198576.4(AGRN):c.1123G>T (p.Ala375Ser) rs138031468 0.00517
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_005327.7(HADH):c.275T>G (p.Phe92Cys) rs61735992 0.00516
NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp) rs144471022 0.00516
NM_001378454.1(ALMS1):c.6752A>G (p.Asp2251Gly) rs28730855 0.00515
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu) rs115913736 0.00515
NM_000168.6(GLI3):c.2165A>G (p.Asn722Ser) rs146130351 0.00514
NM_001371928.1(AHDC1):c.1235G>A (p.Arg412His) rs181285619 0.00514
NM_000110.4(DPYD):c.775A>G (p.Lys259Glu) rs45589337 0.00513
NM_022445.4(TPK1):c.98G>A (p.Arg33His) rs77358162 0.00512
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710 0.00511
NM_014639.4(SKIC3):c.4187A>G (p.Asn1396Ser) rs116690692 0.00511
NM_025074.7(FRAS1):c.2575+20A>C rs80008695 0.00511
NM_152618.3(BBS12):c.1103G>A (p.Arg368His) rs78457123 0.00511
NM_002661.5(PLCG2):c.2542C>T (p.Leu848Phe) rs114618894 0.00510
NM_005633.4(SOS1):c.2167+6T>G rs186640807 0.00510
NM_024996.7(GFM1):c.568A>C (p.Met190Leu) rs75450876 0.00510
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=) rs35450031 0.00509
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser) rs74315394 0.00508
NM_014875.3(KIF14):c.3808A>C (p.Ser1270Arg) rs75449932 0.00507
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_007347.5(AP4E1):c.2755A>G (p.Met919Val) rs115188375 0.00503
NM_016553.5(NUP62):c.560C>T (p.Thr187Met) rs140655913 0.00503
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465 0.00502
NM_001813.3(CENPE):c.6974C>G (p.Ser2325Cys) rs61751592 0.00501
NM_144508.5(KNL1):c.6212+5G>A rs115900739 0.00501
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816 0.00500
NM_001098484.3(SLC4A4):c.2764-2dup rs148961885 0.00498
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164 0.00498
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe) rs117447608 0.00497
NM_001303052.2(MYT1L):c.1817+15T>G rs180992065 0.00496
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327 0.00496
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile) rs61752970 0.00495
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666 0.00495
NM_003742.4(ABCB11):c.2093G>A (p.Arg698His) rs138642043 0.00495
NM_014314.4(RIGI):c.2317G>A (p.Glu773Lys) rs144181118 0.00495
NM_001083961.2(WDR62):c.866A>G (p.Lys289Arg) rs12327568 0.00494
NM_152906.7(TANGO2):c.419G>A (p.Arg140Gln) rs142442293 0.00494
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802 0.00493
NM_018136.5(ASPM):c.6727G>T (p.Val2243Leu) rs148425392 0.00493
NM_021098.3(CACNA1H):c.4817C>T (p.Thr1606Met) rs59286323 0.00493
NM_000541.5(SAG):c.301G>A (p.Ala101Thr) rs141521563 0.00492
NM_033109.5(PNPT1):c.944A>G (p.Lys315Arg) rs35405862 0.00492
NM_001287.6(CLCN7):c.1961C>T (p.Thr654Met) rs114827619 0.00491
NM_002161.6(IARS1):c.3136G>A (p.Val1046Ile) rs34737051 0.00491
NM_002661.5(PLCG2):c.1565C>G (p.Pro522Arg) rs72824905 0.00491
NM_020822.3(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629 0.00491
NM_001166114.2(PNPLA6):c.4078G>A (p.Gly1360Ser) rs145178162 0.00490
NM_001378778.1(MPDZ):c.3582T>G (p.Ser1194Arg) rs188840960 0.00490
NM_001382347.1(MYO5A):c.5409+16C>T rs185241256 0.00490
NM_024105.4(ALG12):c.631C>T (p.Arg211Cys) rs144665682 0.00490
NM_000377.3(WAS):c.995T>C (p.Val332Ala) rs2737799 0.00489
NM_013314.4(BLNK):c.472G>T (p.Ala158Ser) rs148612299 0.00489
NM_024757.5(EHMT1):c.316C>G (p.Gln106Glu) rs144603232 0.00489
NM_000522.5(HOXA13):c.633G>T (p.Met211Ile) rs35277569 0.00488
NM_001845.6(COL4A1):c.3949+10C>T rs188122235 0.00488
NM_007347.5(AP4E1):c.1283A>G (p.Asn428Ser) rs116796602 0.00488
NM_020442.6(VARS2):c.2500C>T (p.Arg834Cys) rs142520878 0.00488
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_194318.4(B3GLCT):c.733G>A (p.Val245Met) rs34830061 0.00488
NM_001698.3(AUH):c.182C>A (p.Pro61His) rs181327211 0.00487
NM_001366285.2(TBXT):c.1016C>T (p.Ala339Val) rs117097130 0.00486
NM_004278.4(PIGL):c.424C>A (p.Leu142Met) rs115958467 0.00486
NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
NM_001083614.2(EARS2):c.16A>G (p.Arg6Gly) rs113722817 0.00485
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val) rs140403186 0.00485
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846 0.00484
NM_052867.4(NALCN):c.4446+15T>C rs78312347 0.00484
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328 0.00483
NM_001277115.2(DNAH11):c.6416G>A (p.Arg2139Lys) rs140048925 0.00483
NM_001378454.1(ALMS1):c.11872+18G>A rs139647347 0.00482
NM_001378183.1(PIEZO2):c.6530G>C (p.Arg2177Thr) rs79992793 0.00478
NR_001566.1(TERC):n.228G>A rs141686314 0.00478
NM_001377299.1(NDUFS2):c.968G>A (p.Arg323Gln) rs35086265 0.00477
NM_020987.5(ANK3):c.13065+20G>A rs142778119 0.00477
NM_001136193.2(FASTKD2):c.29G>C (p.Ser10Thr) rs147727753 0.00476
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile) rs202057391 0.00476
NM_017777.4(MKS1):c.1436G>A (p.Arg479His) rs111315726 0.00476
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710 0.00475
NM_001374828.1(ARID1B):c.985G>A (p.Gly329Ser) rs375160616 0.00475
NM_014336.5(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484 0.00475
NM_000110.4(DPYD):c.1905+1G>A rs3918290 0.00474
NM_006363.6(SEC23B):c.1649G>A (p.Arg550Gln) rs111572459 0.00474
NM_032444.4(SLX4):c.718A>G (p.Asn240Asp) rs114744903 0.00474
NM_001064.4(TKT):c.339+3A>C rs180704294 0.00473
NM_003235.5(TG):c.7755-9T>G rs190979363 0.00473
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_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995 0.00472
NM_004153.4(ORC1):c.57G>C (p.Arg19Ser) rs3087473 0.00472
NM_020822.3(KCNT1):c.59G>C (p.Gly20Ala) rs146292575 0.00472
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942 0.00471
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802 0.00471
NM_030813.6(CLPB):c.668G>A (p.Ser223Asn) rs143097446 0.00471
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val) rs141441058 0.00470
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile) rs115800498 0.00470
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu) rs62272670 0.00470
NM_005732.4(RAD50):c.572C>T (p.Thr191Ile) rs2230017 0.00469
NM_005763.4(AASS):c.1678C>T (p.Pro560Ser) rs74882337 0.00469
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923 0.00468
NM_014727.3(KMT2B):c.364-16C>T rs138399600 0.00468
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro) rs13171868 0.00467
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu) rs145191932 0.00466
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys) rs115321485 0.00466
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_030957.4(ADAMTS10):c.2157C>G (p.Ala719=) rs150468696 0.00463
NM_006734.4(HIVEP2):c.1033A>G (p.Ile345Val) rs141050437 0.00462
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204 0.00460
NM_001080449.3(DNA2):c.2713C>A (p.Gln905Lys) rs181679245 0.00459
NM_022552.5(DNMT3A):c.89A>C (p.Glu30Ala) rs143730975 0.00459
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile) rs56086732 0.00458
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140 0.00457
NM_004456.5(EZH2):c.2028T>C (p.Asn676=) rs115842196 0.00457
NM_015922.3(NSDHL):c.25A>G (p.Met9Val) rs35529894 0.00457
NM_006556.4(PMVK):c.287T>C (p.Val96Ala) rs139248801 0.00456
NM_004863.4(SPTLC2):c.1664C>T (p.Thr555Met) rs138652708 0.00454
NM_005188.4(CBL):c.2710G>A (p.Val904Ile) rs17122769 0.00454
NM_020207.7(ERCC6L2):c.21G>C (p.Gln7His) rs139286981 0.00453
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu) rs75029862 0.00451
NM_001080414.4(CCDC88C):c.5951G>A (p.Arg1984Gln) rs61745465 0.00451
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886 0.00451
NM_003850.3(SUCLA2):c.256A>G (p.Ile86Val) rs61756204 0.00451
NM_006514.4(SCN10A):c.4009T>A (p.Ser1337Thr) rs11711062 0.00451
NM_052989.3(IFT122):c.1273C>T (p.Arg425Trp) rs61744639 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_006612.6(KIF1C):c.1165+4G>A rs192489748 0.00449
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_025137.4(SPG11):c.4923G>C (p.Lys1641Asn) rs150218102 0.00449
NM_001374504.1(TMPRSS6):c.2105G>T (p.Arg702Leu) rs115310908 0.00447
NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro) rs55720916 0.00446
NM_002472.3(MYH8):c.5513A>C (p.Glu1838Ala) rs111567318 0.00446
NM_020812.4(DOCK6):c.434G>A (p.Arg145Gln) rs140883567 0.00446
NM_001145809.2(MYH14):c.826A>G (p.Ile276Val) rs55645295 0.00445
NM_016219.5(MAN1B1):c.1429G>A (p.Gly477Arg) rs75639549 0.00445
NM_016373.4(WWOX):c.835C>T (p.Arg279Cys) rs77314072 0.00444
NM_017534.6(MYH2):c.5780G>A (p.Arg1927Gln) rs34161789 0.00444
NM_015102.5(NPHP4):c.1705C>G (p.Gln569Glu) rs113413307 0.00443
NM_052865.4(MGME1):c.532C>T (p.Arg178Trp) rs143417446 0.00443
NM_001377.3(DYNC2H1):c.7319C>T (p.Thr2440Met) rs146569005 0.00441
NM_013275.6(ANKRD11):c.744+18C>G rs147328392 0.00441
NM_014254.3(RXYLT1):c.275C>T (p.Thr92Met) rs73122634 0.00441
NM_203446.3(SYNJ1):c.43C>T (p.Pro15Ser) rs61755328 0.00441
NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg) rs61754130 0.00437
NM_006031.6(PCNT):c.4285C>T (p.Arg1429Cys) rs62224222 0.00437
NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser) rs138628273 0.00437
NM_020699.4(GATAD2B):c.1469C>T (p.Ala490Val) rs145131801 0.00437
NM_001080414.4(CCDC88C):c.3895C>T (p.Arg1299Cys) rs142539336 0.00436
NM_001378452.1(ITPR1):c.4263C>G (p.His1421Gln) rs61757110 0.00436
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683 0.00435
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) rs28384988 0.00434
NM_000435.3(NOTCH3):c.3704A>T (p.His1235Leu) rs55882518 0.00433
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689 0.00433
NM_173630.4(RTTN):c.2309+12G>A rs144279235 0.00433
NM_032040.5(CCDC8):c.954T>G (p.Asn318Lys) rs143086771 0.00432
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln) rs138787771 0.00432
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904 0.00431
NM_001378454.1(ALMS1):c.6464A>G (p.Asp2155Gly) rs58093963 0.00429
NM_001378454.1(ALMS1):c.7268A>G (p.Asn2423Ser) rs75145370 0.00429
NM_002857.4(PEX19):c.771+3A>G rs141133579 0.00429
NM_007374.3(SIX6):c.385G>A (p.Glu129Lys) rs146737847 0.00428
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886 0.00427
NM_014026.6(DCPS):c.677G>A (p.Gly226Asp) rs35836343 0.00427
NM_018136.5(ASPM):c.5741A>G (p.Gln1914Arg) rs113325473 0.00427
NM_001291303.3(FAT4):c.6733G>A (p.Val2245Ile) rs112971995 0.00426
NM_001371928.1(AHDC1):c.212C>T (p.Thr71Ile) rs199719452 0.00426
NM_002296.4(LBR):c.1609T>G (p.Ser537Ala) rs80299691 0.00426
NM_177986.5(DSG4):c.1568C>T (p.Pro523Leu) rs34620697 0.00424
NM_015631.6(TCTN3):c.1030G>A (p.Gly344Arg) rs141088838 0.00423
NM_031885.5(BBS2):c.805-20A>G rs41280892 0.00423
NM_181486.4(TBX5):c.787G>A (p.Val263Met) rs147405081 0.00423
NM_005050.4(ABCD4):c.1736G>A (p.Arg579Gln) rs143288344 0.00421
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869 0.00421
NM_015631.6(TCTN3):c.224C>T (p.Ala75Val) rs41291570 0.00421
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00419
NM_001365276.2(TNXB):c.7168+19C>A rs11752495 0.00419
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_031475.3(ESPN):c.1104T>G (p.Phe368Leu) rs142638391 0.00418
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891 0.00418
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser) rs147240502 0.00417
NM_001367624.2(ZNF469):c.10795G>T (p.Ala3599Ser) rs199760004 0.00417
NM_022095.4(ZNF335):c.826G>A (p.Ala276Thr) rs117802609 0.00417
NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu) rs35811023 0.00416
NM_004366.6(CLCN2):c.2173C>T (p.Arg725Trp) rs114702742 0.00416
NM_012233.3(RAB3GAP1):c.1006C>T (p.Arg336Cys) rs150478342 0.00415
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988 0.00414
NM_001083961.2(WDR62):c.1225A>G (p.Asn409Asp) rs146180912 0.00414
NM_021098.3(CACNA1H):c.4038+12C>T rs370831984 0.00414
NM_012213.3(MLYCD):c.799-16C>T rs150789545 0.00413
NM_022464.5(SIL1):c.189T>G (p.Asp63Glu) rs115591710 0.00413
NM_018122.5(DARS2):c.1642C>A (p.Leu548Met) rs149660059 0.00412
NM_001378414.1(HDAC4):c.2532+17T>C rs190130626 0.00411
NM_020812.4(DOCK6):c.4205C>T (p.Thr1402Met) rs147554257 0.00411
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988 0.00410
NM_000540.3(RYR1):c.11941C>T (p.His3981Tyr) rs148772854 0.00409
NM_015102.5(NPHP4):c.511G>A (p.Ala171Thr) rs113765431 0.00408
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val) rs73740379 0.00408
NM_007137.5(ZNF81):c.1495A>G (p.Ile499Val) rs182239885 0.00407
NM_000261.2(MYOC):c.1193A>G (p.Lys398Arg) rs56314834 0.00406
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys) rs151155518 0.00406
NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln) rs35669708 0.00406
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766 0.00405
NM_020964.3(EPG5):c.4039A>C (p.Asn1347His) rs144860976 0.00405
NM_000747.3(CHRNB1):c.1045-6C>G rs79209506 0.00404
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00404
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) rs76371972 0.00404
NM_001458.5(FLNC):c.1549+15C>A rs181134489 0.00403
NM_002547.3(OPHN1):c.902C>T (p.Thr301Met) rs138108344 0.00403
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_001286445.3(RIPOR2):c.1613C>T (p.Ser538Leu) rs142889670 0.00401
NM_018263.6(ASXL2):c.4111C>A (p.Gln1371Lys) rs115221221 0.00401
NM_001080510.5(METTL23):c.569T>C (p.Leu190Pro) rs147321492 0.00400
NM_001916.5(CYC1):c.227T>C (p.Met76Thr) rs144257411 0.00400
NM_004667.6(HERC2):c.10274C>T (p.Pro3425Leu) rs147705404 0.00400
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) rs36027220 0.00400
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr) rs55980069 0.00399
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00399
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln) rs141340867 0.00398
NM_018714.3(COG1):c.1712G>A (p.Arg571Gln) rs141750466 0.00398
NM_000481.4(AMT):c.898A>G (p.Met300Val) rs144971200 0.00397
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_001286445.3(RIPOR2):c.1773A>C (p.Leu591Phe) rs143785002 0.00396
NM_015072.5(TTLL5):c.2637A>C (p.Leu879Phe) rs146036604 0.00396
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys) rs139367209 0.00396
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_000424.4(KRT5):c.1636C>A (p.Leu546Ile) rs114734812 0.00394
NM_001171155.2(PET100):c.82G>A (p.Glu28Lys) rs4134804 0.00394
NM_001378454.1(ALMS1):c.6007A>G (p.Ile2003Val) rs7587103 0.00394
NM_032322.4(RNF135):c.299A>G (p.His100Arg) rs368080023 0.00394
NM_001163809.2(WDR81):c.1877C>T (p.Pro626Leu) rs148644987 0.00393
NM_003619.4(PRSS12):c.28C>G (p.Leu10Val) rs143520192 0.00392
NM_016219.5(MAN1B1):c.794G>A (p.Arg265His) rs114057640 0.00392
NM_001378452.1(ITPR1):c.1480G>A (p.Val494Ile) rs41289628 0.00391
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024 0.00390
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432 0.00389
NM_006348.5(COG5):c.1247A>G (p.Tyr416Cys) rs41276187 0.00389
NM_001256071.3(RNF213):c.1180A>G (p.Asn394Asp) rs74490096 0.00388
NM_022041.4(GAN):c.1684C>G (p.Pro562Ala) rs79901179 0.00388
NM_000384.3(APOB):c.606A>T (p.Glu202Asp) rs61746672 0.00387
NM_022042.4(SLC26A1):c.1549G>A (p.Gly517Arg) rs187110381 0.00386
NM_002547.3(OPHN1):c.2079G>A (p.Met693Ile) rs36095561 0.00385
NM_001374828.1(ARID1B):c.3235+6C>T rs148976215 0.00384
NM_001379110.1(SLC9A6):c.-57+50G>T rs201523857 0.00383
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr) rs77357563 0.00382
NM_003072.5(SMARCA4):c.222+18C>T rs180832203 0.00381
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser) rs137853921 0.00380
NM_002487.3(NDN):c.953T>C (p.Val318Ala) rs114077338 0.00379
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile) rs116099212 0.00379
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_015335.5(MED13L):c.3512A>G (p.Lys1171Arg) rs147863200 0.00377
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00376
NM_001985.3(ETFB):c.58-96G>A rs140608276 0.00376
NM_001379500.1(COL18A1):c.2032-9T>A rs144913625 0.00375
NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His) rs41313282 0.00375
NM_003737.4(DCHS1):c.8758G>A (p.Val2920Met) rs115534913 0.00374
NM_024809.5(TCTN2):c.1585C>G (p.Leu529Val) rs113301547 0.00373
NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn) rs199839743 0.00372
NM_002291.3(LAMB1):c.2542G>C (p.Ala848Pro) rs145746791 0.00371
NM_005883.3(APC2):c.971C>T (p.Thr324Ile) rs201709261 0.00371
NM_001378414.1(HDAC4):c.2445-18G>A rs202203032 0.00369
NM_025265.4(TSEN2):c.272-4C>G rs41293385 0.00369
NM_152424.4(AMER1):c.832G>T (p.Ala278Ser) rs35718712 0.00369
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) rs35744605 0.00367
NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser) rs187333111 0.00365
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980 0.00365
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613 0.00365
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_004044.7(ATIC):c.1234G>A (p.Glu412Lys) rs141872658 0.00364
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_000095.3(COMP):c.2227+8G>A rs116499541 0.00363
NM_032444.4(SLX4):c.5029C>T (p.Pro1677Ser) rs7196345 0.00363
NM_005629.4(SLC6A8):c.1141+18G>A rs187400676 0.00362
NM_001005361.3(DNM2):c.236-8C>G rs143084059 0.00361
NM_001034853.2(RPGR):c.905G>C (p.Cys302Ser) rs62640590 0.00361
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile) rs76675748 0.00361
NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg) rs2229860 0.00361
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_001372044.2(SHANK3):c.2028G>A (p.Thr676=) rs73892912 0.00360
NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln) rs118083923 0.00359
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00358
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820 0.00358
NM_001040436.3(YARS2):c.1275-2dup rs565781501 0.00357
NM_001080432.3(FTO):c.545G>C (p.Gly182Ala) rs61743972 0.00357
NM_000548.5(TSC2):c.2545+26G>A rs45517242 0.00356
NM_014008.5(CCDC22):c.1636G>A (p.Asp546Asn) rs147222955 0.00356
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg) rs148509395 0.00356
NM_001278689.2(EOGT):c.783C>T (p.His261=) rs147327086 0.00355
NM_025074.7(FRAS1):c.11227A>G (p.Ile3743Val) rs35370270 0.00355
NM_000431.4(MVK):c.769-7T>G rs104895331 0.00354
NM_133433.4(NIPBL):c.6109-3T>C rs145778995 0.00354
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826 0.00353
NM_001845.6(COL4A1):c.3776C>G (p.Pro1259Arg) rs146329532 0.00352
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_001243133.2(NLRP3):c.397+7G>A rs192297357 0.00350
NM_001397.3(ECE1):c.1385G>A (p.Ser462Asn) rs141146885 0.00350
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met) rs115784602 0.00349
NM_001184.4(ATR):c.6394T>G (p.Tyr2132Asp) rs28910273 0.00349
NM_182925.5(FLT4):c.1921C>T (p.Pro641Ser) rs55667289 0.00349
NM_025152.3(NUBPL):c.815-27T>C rs118161496 0.00348
NM_000048.4(ASL):c.556C>A (p.Arg186=) rs111407265 0.00347
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_024735.5(FBXO31):c.1181G>A (p.Arg394Gln) rs34412175 0.00346
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152 0.00345
NM_032608.7(MYO18B):c.7147C>T (p.Arg2383Trp) rs192639023 0.00345
NM_153704.6(TMEM67):c.507-19T>C rs138589757 0.00344
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376 0.00342
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656 0.00342
NM_000222.3(KIT):c.532G>A (p.Ala178Thr) rs115585711 0.00342
NM_004525.3(LRP2):c.149C>G (p.Thr50Ser) rs114460450 0.00342
NM_001365536.1(SCN9A):c.2190G>C (p.Trp730Cys) rs202055175 0.00341
NM_147127.5(EVC2):c.2029C>A (p.Arg677=) rs73198165 0.00341
NM_001122752.2(SERPINI1):c.289G>A (p.Val97Ile) rs61750375 0.00340
NM_001148.6(ANK2):c.9454A>G (p.Thr3152Ala) rs61741040 0.00340
NM_001184.4(ATR):c.2290A>G (p.Lys764Glu) rs77208665 0.00340
NM_001080476.3(GRXCR1):c.272G>T (p.Gly91Val) rs113203706 0.00339
NM_004409.5(DMPK):c.882+8C>T rs141629958 0.00339
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) rs147025508 0.00338
NM_004064.5(CDKN1B):c.577C>T (p.Leu193Phe) rs73281150 0.00338
NM_000387.6(SLC25A20):c.773G>A (p.Arg258Gln) rs35989076 0.00337
NM_001365999.1(SZT2):c.7562T>C (p.Val2521Ala) rs150113647 0.00337
NM_014804.3(KIAA0753):c.754C>T (p.Arg252Cys) rs141632537 0.00337
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser) rs139600783 0.00337
NM_004425.4(ECM1):c.1083+10C>T rs55770822 0.00336
NM_020066.5(FMN2):c.1259A>C (p.Lys420Thr) rs146681532 0.00336
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His) rs34819316 0.00334
NM_004484.4(GPC3):c.1285G>A (p.Val429Met) rs11539789 0.00333
NM_001478.5(B4GALNT1):c.793G>A (p.Gly265Arg) rs144922627 0.00332
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu) rs140848350 0.00331
NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly) rs187947581 0.00330
NM_020987.5(ANK3):c.6955G>A (p.Asp2319Asn) rs140463162 0.00330
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026 0.00329
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300 0.00328
NM_001009944.3(PKD1):c.10304G>A (p.Arg3435Gln) rs140189010 0.00328
NM_015443.4(KANSL1):c.773T>C (p.Leu258Ser) rs145714368 0.00328
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_000687.4(AHCY):c.274A>G (p.Ile92Val) rs11552695 0.00327
NM_001130987.2(DYSF):c.2107C>G (p.Leu703Val) rs74423119 0.00327
NM_001257096.2(PAX1):c.1282+12A>C rs368123079 0.00327
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys) rs34102501 0.00327
NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser) rs144692954 0.00327
NM_201384.3(PLEC):c.5476C>T (p.Arg1826Trp) rs200575795 0.00326
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363 0.00325
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269 0.00324
NM_001048166.1(STIL):c.1055G>A (p.Arg352His) rs141678367 0.00323
NM_014165.4(NDUFAF4):c.40C>A (p.Leu14Ile) rs145392673 0.00322
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser) rs138155747 0.00322
NM_018062.4(FANCL):c.112C>T (p.Leu38Phe) rs55849827 0.00322
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756 0.00320
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000527.5(LDLR):c.67+18C>A rs17242759 0.00319
NM_021927.3(GUF1):c.748C>T (p.Arg250Cys) rs116062572 0.00319
NM_001145026.2(PTPRQ):c.202G>A (p.Gly68Arg) rs61729303 0.00318
NM_005198.5(CHKB):c.983A>G (p.Gln328Arg) rs141381896 0.00317
NM_001363.5(DKC1):c.776A>C (p.His259Pro) rs61757608 0.00316
NM_014362.4(HIBCH):c.796G>A (p.Asp266Asn) rs144053672 0.00316
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_001042545.2(LTBP4):c.1238G>A (p.Gly413Asp) rs114749335 0.00315
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) rs111558968 0.00315
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His) rs75120695 0.00315
NM_024747.6(HPS6):c.398C>T (p.Ala133Val) rs199816481 0.00315
NM_000426.4(LAMA2):c.5909G>C (p.Cys1970Ser) rs148451013 0.00314
NM_005918.4(MDH2):c.66+17G>A rs189383313 0.00314
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg) rs115545935 0.00314
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=) rs76794400 0.00313
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263 0.00312
NM_001368809.2(AMPD2):c.1407+3A>G rs41280332 0.00312
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_006565.4(CTCF):c.1927C>T (p.Pro643Ser) rs145727304 0.00312
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu) rs144486524 0.00310
NM_001848.3(COL6A1):c.1182+3G>A rs62215499 0.00310
NM_001365276.2(TNXB):c.6811G>C (p.Val2271Leu) rs140770834 0.00309
NM_001378778.1(MPDZ):c.1041G>C (p.Leu347Phe) rs34911705 0.00309
NM_006493.4(CLN5):c.-87C>T rs200353554 0.00309
NM_012123.4(MTO1):c.1086C>G (p.Ile362Met) rs147329295 0.00309
NM_032861.4(SERAC1):c.62C>T (p.Pro21Leu) rs147194699 0.00309
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740 0.00307
NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser) rs143522987 0.00307
NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val) rs61747625 0.00307
NM_005120.3(MED12):c.1248+15T>C rs187377817 0.00307
NM_032977.4(CASP10):c.1216A>T (p.Ile406Leu) rs80358239 0.00307
NM_198525.3(KIF7):c.1429G>A (p.Ala477Thr) rs527804875 0.00307
NM_006416.5(SLC35A1):c.133A>G (p.Thr45Ala) rs145006535 0.00306
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152 0.00306
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser) rs2229194 0.00305
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp) rs202216463 0.00304
NM_001365536.1(SCN9A):c.3361C>T (p.Arg1121Trp) rs190664764 0.00304
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_000260.4(MYO7A):c.5324T>C (p.Ile1775Thr) rs115123584 0.00303
NM_000781.3(CYP11A1):c.235G>A (p.Val79Ile) rs143655263 0.00303
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280 0.00303
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln) rs188101277 0.00303
NM_005751.5(AKAP9):c.8485G>A (p.Glu2829Lys) rs149946443 0.00303
NM_007208.4(MRPL3):c.931G>A (p.Gly311Ser) rs148679749 0.00303
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu) rs142813109 0.00303
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_201384.3(PLEC):c.4651C>T (p.Arg1551Cys) rs2857824 0.00301
NM_005045.4(RELN):c.5923G>A (p.Gly1975Ser) rs114807343 0.00300
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln) rs141246107 0.00299
NM_032119.4(ADGRV1):c.6095C>T (p.Ala2032Val) rs142013761 0.00299
NM_001349338.3(FOXP1):c.1652+403A>G rs76145927 0.00298
NM_014467.3(SRPX2):c.460C>G (p.His154Asp) rs73636611 0.00298
NM_001347721.2(DYRK1A):c.208-40C>G rs140466090 0.00297
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005 0.00295
NM_002206.3(ITGA7):c.2701A>G (p.Ile901Val) rs113651939 0.00295
NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr) rs202076833 0.00295
NM_014639.4(SKIC3):c.1765G>A (p.Ala589Thr) rs147622709 0.00295
NM_020964.3(EPG5):c.2063T>C (p.Phe688Ser) rs61978576 0.00295
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203 0.00293
NM_000282.4(PCCA):c.231+15C>T rs202049874 0.00291
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_020436.5(SALL4):c.2215G>T (p.Ala739Ser) rs41274696 0.00290
NM_001136193.2(FASTKD2):c.149A>G (p.Lys50Arg) rs141447598 0.00289
NM_000094.4(COL7A1):c.4612C>T (p.Arg1538Cys) rs149711883 0.00288
NM_000501.4(ELN):c.1828G>A (p.Gly610Ser) rs140425210 0.00288
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684 0.00288
NM_000875.5(IGF1R):c.1310G>A (p.Arg437His) rs34516635 0.00287
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926 0.00287
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met) rs41287112 0.00287
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser) rs145733598 0.00287
NM_020686.6(ABAT):c.55C>T (p.Arg19Cys) rs77696190 0.00287
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_001111307.2(PDE4A):c.991C>T (p.Pro331Ser) rs150660796 0.00286
NM_001363711.2(DUOX2):c.512T>C (p.Leu171Pro) rs199957468 0.00285
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile) rs45630557 0.00285
NM_017721.5(CC2D1A):c.905G>A (p.Arg302Gln) rs73922801 0.00283
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00282
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266 0.00282
NM_001039591.3(USP9X):c.6084C>T (p.Pro2028=) rs146661515 0.00282
NM_001112741.2(KCNC1):c.570+19A>T rs186151622 0.00282
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro) rs2904551 0.00282
NM_018341.3(ERMARD):c.1162A>G (p.Asn388Asp) rs151283330 0.00282
NM_020312.4(COQ9):c.835G>A (p.Asp279Asn) rs76508383 0.00282
NM_001371928.1(AHDC1):c.811C>G (p.Pro271Ala) rs200660997 0.00281
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu) rs112581563 0.00281
NM_001723.7(DST):c.5909T>C (p.Phe1970Ser) rs141573097 0.00280
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe) rs186745328 0.00280
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) rs147551003 0.00280
NM_177433.3(MAGED2):c.130A>G (p.Lys44Glu) rs11555928 0.00280
NM_207037.2(TCF12):c.1520T>G (p.Leu507Arg) rs36060670 0.00280
NM_000170.3(GLDC):c.2053-5C>G rs140877566 0.00278
NM_000285.4(PEPD):c.1163G>A (p.Arg388His) rs2230062 0.00278
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126 0.00278
NM_001369.3(DNAH5):c.299G>C (p.Gly100Ala) rs144236383 0.00278
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698 0.00278
NM_001320752.2(STS):c.1731C>G (p.Ser577Arg) rs151332463 0.00277
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val) rs55791823 0.00277
NM_032634.4(PIGO):c.461C>A (p.Ala154Asp) rs142562923 0.00277
NM_001371986.1(UNC80):c.9752C>G (p.Thr3251Arg) rs59504201 0.00276
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr) rs140963213 0.00275
NM_018127.7(ELAC2):c.560-2A>G rs149733287 0.00275
NM_173630.4(RTTN):c.5143A>G (p.Asn1715Asp) rs35374168 0.00275
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) rs146458902 0.00274
NM_032806.6(POMGNT2):c.364G>A (p.Val122Met) rs149948290 0.00274
NM_152416.4(NDUFAF6):c.838G>A (p.Val280Ile) rs61743028 0.00274
NM_006267.5(RANBP2):c.8407A>G (p.Ile2803Val) rs61758804 0.00272
NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu) rs56226109 0.00271
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser) rs77758574 0.00270
NM_006734.4(HIVEP2):c.7036C>T (p.Leu2346Phe) rs117019703 0.00270
NM_017721.5(CC2D1A):c.2440G>T (p.Ala814Ser) rs56359259 0.00270
NM_020442.6(VARS2):c.2293G>A (p.Val765Met) rs55865499 0.00270
NM_001457.4(FLNB):c.362A>T (p.Tyr121Phe) rs147846832 0.00269
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=) rs139180845 0.00269
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_006182.4(DDR2):c.1382C>T (p.Ser461Leu) rs140710321 0.00268
NM_001379029.1(CERT1):c.-84G>A rs5744539 0.00267
NM_004733.4(SLC33A1):c.1525G>A (p.Gly509Ser) rs76440173 0.00267
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser) rs141330687 0.00267
NM_016302.4(CRBN):c.88G>A (p.Glu30Lys) rs78564552 0.00266
NM_020361.5(CPA6):c.1237C>T (p.Leu413Phe) rs142597675 0.00266
NM_021956.5(GRIK2):c.2296G>A (p.Val766Ile) rs3213608 0.00266
NM_024408.4(NOTCH2):c.2585C>T (p.Ala862Val) rs35656321 0.00266
NM_025152.3(NUBPL):c.608-16G>A rs140247189 0.00266
NM_001382347.1(MYO5A):c.5140G>A (p.Val1714Ile) rs143298463 0.00265
NM_004667.6(HERC2):c.10969G>A (p.Val3657Ile) rs139953376 0.00265
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_015215.4(CAMTA1):c.3066+20C>T rs147462930 0.00264
NM_000744.7(CHRNA4):c.1352C>T (p.Pro451Leu) rs55915440 0.00262
NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln) rs148468628 0.00262
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722 0.00262
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_001182.4(ALDH7A1):c.-34G>C rs140627539 0.00261
NM_001291303.3(FAT4):c.14666G>A (p.Arg4889Lys) rs35845544 0.00261
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869 0.00260
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) rs61752327 0.00260
NM_002693.3(POLG):c.948G>A (p.Lys316=) rs61756401 0.00259
NM_004463.3(FGD1):c.676G>A (p.Ala226Thr) rs138723423 0.00259
NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg) rs138658585 0.00259
NM_000892.5(KLKB1):c.806C>G (p.Ser269Cys) rs4253376 0.00258
NM_001008537.3(NEXMIF):c.4246C>T (p.Pro1416Ser) rs143577015 0.00258
NM_001113378.2(FANCI):c.3255+6dup rs878854178 0.00258
NM_001134831.2(AHI1):c.-140+1G>T rs145372075 0.00258
NM_001371928.1(AHDC1):c.286C>T (p.Arg96Cys) rs141734980 0.00258
NM_003718.5(CDK13):c.1066C>G (p.Pro356Ala) rs17537669 0.00258
NM_024408.4(NOTCH2):c.3625T>G (p.Phe1209Val) rs147223770 0.00258
NM_001080.3(ALDH5A1):c.130C>G (p.Leu44Val) rs185042766 0.00257
NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val) rs139814895 0.00257
NM_001257096.2(PAX1):c.*156C>T rs138641387 0.00257
NM_030665.4(RAI1):c.610C>T (p.Pro204Ser) rs138332224 0.00257
NM_000168.6(GLI3):c.1357-17C>G rs190600888 0.00256
NM_000892.5(KLKB1):c.606C>A (p.His202Gln) rs4253373 0.00256
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val) rs191830054 0.00256
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys) rs117687681 0.00255
NM_005592.4(MUSK):c.1931T>C (p.Val644Ala) rs41279055 0.00255
NM_001374353.1(GLI2):c.803C>T (p.Ala268Val) rs146992756 0.00254
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_032208.3(ANTXR1):c.1553C>T (p.Ala518Val) rs139807657 0.00253
NM_014210.4(EVI2A):c.527A>G (p.Gln176Arg) rs144778786 0.00252
NM_001113378.2(FANCI):c.2604A>C (p.Glu868Asp) rs118031800 0.00251
NM_001136193.2(FASTKD2):c.2093C>T (p.Ala698Val) rs146554705 0.00251
NM_015192.4(PLCB1):c.3116T>C (p.Ile1039Thr) rs75820839 0.00251
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_003042.4(SLC6A1):c.1243C>A (p.Leu415Ile) rs112095333 0.00250
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_001040616.3(LINS1):c.1813A>G (p.Met605Val) rs141855950 0.00249
NM_001374828.1(ARID1B):c.1791+19G>C rs374013482 0.00249
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699 0.00249
NM_152743.4(BRAT1):c.2353C>T (p.Arg785Trp) rs61729932 0.00249
NM_000243.3(MEFV):c.1587+18C>T rs11466030 0.00248
NM_001457.4(FLNB):c.1559C>T (p.Pro520Leu) rs138220431 0.00247
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) rs115923556 0.00243
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_031443.4(CCM2):c.1054+12C>T rs190686229 0.00243
NM_001277115.2(DNAH11):c.11233G>A (p.Glu3745Lys) rs182389910 0.00242
NM_005619.5(RTN2):c.1168G>A (p.Gly390Ser) rs143937661 0.00242
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776 0.00242
NM_019844.4(SLCO1B3):c.154A>G (p.Ile52Val) rs57325543 0.00242
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00241
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys) rs35689779 0.00239
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) rs41265127 0.00239
NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln) rs34066624 0.00238
NM_001384732.1(CPLANE1):c.8958+4A>C rs199810663 0.00237
NM_032436.4(CHAMP1):c.755C>T (p.Ala252Val) rs114331585 0.00237
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202 0.00236
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys) rs45454496 0.00235
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln) rs201619500 0.00235
NM_001844.5(COL2A1):c.3151G>A (p.Ala1051Thr) rs41272041 0.00234
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953 0.00233
NM_015107.3(PHF8):c.2720G>A (p.Arg907His) rs142630105 0.00233
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567 0.00233
NM_001371623.1(TCOF1):c.122C>T (p.Ala41Val) rs56180593 0.00232
NM_080669.6(SLC46A1):c.1366C>T (p.Pro456Ser) rs186143284 0.00232
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729 0.00231
NM_003000.3(SDHB):c.170A>G (p.His57Arg) rs35962811 0.00231
NM_007332.3(TRPA1):c.1878G>A (p.Met626Ile) rs61753709 0.00230
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn) rs144177566 0.00229
NM_001292063.2(OTOG):c.6074C>T (p.Ala2025Val) rs61736002 0.00229
NM_001363.4(DKC1):c.-142C>G rs199422241 0.00229
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile) rs114191482 0.00228
NM_001349338.3(FOXP1):c.1146+19C>G rs140060227 0.00228
NM_001372044.2(SHANK3):c.291-18G>A rs779140644 0.00228
NM_001037.5(SCN1B):c.448+193G>A rs66876876 0.00227
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00227
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg) rs142938748 0.00227
NM_005559.4(LAMA1):c.2657C>T (p.Ala886Val) rs144738522 0.00225
NM_001289.6(CLIC2):c.478C>G (p.Pro160Ala) rs41304992 0.00224
NM_005076.5(CNTN2):c.505C>T (p.Leu169Phe) rs142502980 0.00224
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776 0.00223
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro) rs147444165 0.00223
NM_000377.3(WAS):c.391G>A (p.Glu131Lys) rs146220228 0.00222
NM_001374353.1(GLI2):c.3298G>T (p.Val1100Leu) rs147580961 0.00222
NM_001854.4(COL11A1):c.2556+92T>A rs550991929 0.00222
NM_015335.5(MED13L):c.1283A>G (p.His428Arg) rs144410580 0.00222
NM_003850.3(SUCLA2):c.811A>G (p.Met271Val) rs142020748 0.00221
NM_000812.4(GABRB1):c.1263C>G (p.His421Gln) rs41311286 0.00220
NM_001349338.3(FOXP1):c.181-13T>G rs139264797 0.00220
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu) rs150563155 0.00220
NM_001379610.1(SPINK1):c.88-23A>T rs199929811 0.00219
NM_003922.4(HERC1):c.3374G>A (p.Gly1125Asp) rs80203202 0.00219
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val) rs150399299 0.00219
NM_000316.3(PTH1R):c.299G>A (p.Gly100Asp) rs41290646 0.00218
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys) rs181347577 0.00218
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) rs10979599 0.00218
NM_001128225.3(SLC39A13):c.439C>G (p.Gln147Glu) rs148291843 0.00217
NM_002471.4(MYH6):c.3883G>C (p.Glu1295Gln) rs34935550 0.00217
NM_020458.4(TTC7A):c.2014T>C (p.Ser672Pro) rs149602485 0.00217
NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu) rs201060500 0.00216
NM_020458.4(TTC7A):c.1817A>G (p.Lys606Arg) rs139010200 0.00216
NM_000054.7(AVPR2):c.740G>A (p.Arg247His) rs149668713 0.00215
NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val) rs181295720 0.00215
NM_012434.5(SLC17A5):c.1324G>A (p.Val442Ile) rs74360232 0.00215
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp) rs77021998 0.00214
NM_001378452.1(ITPR1):c.5621T>G (p.Val1874Gly) rs143093165 0.00213
NM_006005.3(WFS1):c.712+16G>A rs71524367 0.00213
NM_020223.4(FAM20C):c.1681G>A (p.Val561Met) rs145750007 0.00213
NM_001303.4(COX10):c.1291C>T (p.Arg431Trp) rs113058506 0.00212
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) rs41275239 0.00212
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn) rs55858252 0.00211
NM_020344.4(SLC24A2):c.1802A>G (p.Asn601Ser) rs61745273 0.00211
NM_153240.5(NPHP3):c.1157A>G (p.Asn386Ser) rs142021049 0.00211
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys) rs147559466 0.00210
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637 0.00210
NM_001270974.2(HYDIN):c.14857C>T (p.Arg4953Trp) rs79607350 0.00208
NM_006493.4(CLN5):c.-99G>C rs202118652 0.00208
NM_006495.4(EVI2B):c.758G>T (p.Cys253Phe) rs115271229 0.00207
NM_144670.6(A2ML1):c.158C>G (p.Thr53Arg) rs79149293 0.00207
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836 0.00206
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val) rs61733680 0.00204
NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln) rs77080672 0.00204
NM_015559.3(SETBP1):c.4640C>A (p.Thr1547Asn) rs201973930 0.00204
NM_002968.3(SALL1):c.379G>C (p.Val127Leu) rs138635817 0.00203
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg) rs138410949 0.00203
NM_198576.4(AGRN):c.2690C>T (p.Ala897Val) rs116836855 0.00203
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892 0.00202
NM_014402.5(UQCRQ):c.10G>A (p.Glu4Lys) rs137995316 0.00201
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_000493.4(COL10A1):c.593G>A (p.Arg198His) rs148785195 0.00200
NM_020461.4(TUBGCP6):c.89G>A (p.Arg30Gln) rs148626062 0.00200
NM_004006.3(DMD):c.10087-20C>T rs41303187 0.00198
NM_025114.4(CEP290):c.251-11T>A rs200666995 0.00198
NM_000540.3(RYR1):c.271-7C>G rs192495718 0.00197
NM_003742.4(ABCB11):c.127G>A (p.Val43Ile) rs183406496 0.00197
NM_001371986.1(UNC80):c.3250+9A>G rs144170692 0.00196
NM_002454.3(MTRR):c.1982A>G (p.His661Arg) rs148909799 0.00196
NM_000717.5(CA4):c.*59G>A rs530720914 0.00195
NM_003482.4(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011 0.00195
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373 0.00194
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214 0.00193
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_001039876.3(SYNE4):c.1102G>A (p.Val368Met) rs141202530 0.00192
NM_020223.4(FAM20C):c.252C>A (p.Asn84Lys) rs190382829 0.00192
NM_000168.6(GLI3):c.444C>T (p.Tyr148=) rs142241970 0.00191
NM_000551.4(VHL):c.340+5G>C rs61758376 0.00190
NM_000814.6(GABRB3):c.682+20A>G rs75015217 0.00189
NM_001277115.2(DNAH11):c.58C>A (p.Arg20Ser) rs72655967 0.00188
NM_001371623.1(TCOF1):c.1028G>A (p.Ser343Asn) rs144327167 0.00188
NM_002742.3(PRKD1):c.2422A>G (p.Ile808Val) rs139355024 0.00188
NM_001134407.3(GRIN2A):c.1122+16T>A rs149886469 0.00187
NM_018965.4(TREM2):c.469C>T (p.His157Tyr) rs2234255 0.00187
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00187
NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His) rs201214794 0.00187
NM_000199.5(SGSH):c.1283G>A (p.Arg428His) rs144862290 0.00186
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682 0.00186
NM_001349338.3(FOXP1):c.1702C>T (p.Pro568Ser) rs147674680 0.00185
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_015559.3(SETBP1):c.1483T>A (p.Ser495Thr) rs138515058 0.00184
NM_022152.6(TMBIM1):c.128C>T (p.Pro43Leu) rs35041266 0.00184
NM_024027.5(COLEC11):c.23T>C (p.Val8Ala) rs113269917 0.00184
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987 0.00184
NM_030662.4(MAP2K2):c.580+6G>A rs201435249 0.00183
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586 0.00182
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr) rs202215735 0.00182
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His) rs201979610 0.00182
NM_020822.3(KCNT1):c.3383C>T (p.Ala1128Val) rs143704418 0.00182
NM_000260.4(MYO7A):c.6214G>A (p.Val2072Ile) rs200313391 0.00181
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter) rs116987552 0.00181
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196 0.00180
NM_000975.5(RPL11):c.7-20G>T rs142110379 0.00180
NM_001378030.1(CCDC78):c.492+1G>A rs138669350 0.00180
NM_001605.3(AARS1):c.2459A>G (p.Lys820Arg) rs147319762 0.00180
NM_001256789.3(CACNA1F):c.3439-18C>T rs199764042 0.00179
NM_003000.3(SDHB):c.423+20T>A rs190139590 0.00179
NM_007118.4(TRIO):c.9110A>T (p.Lys3037Met) rs55900671 0.00179
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462 0.00178
NM_006059.4(LAMC3):c.1630+5C>G rs184221540 0.00178
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_001371928.1(AHDC1):c.1510G>A (p.Val504Met) rs143346525 0.00177
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln) rs112185887 0.00176
NM_005450.6(NOG):c.275G>A (p.Gly92Glu) rs199566527 0.00175
NM_007215.4(POLG2):c.122G>A (p.Gly41Glu) rs146504115 0.00175
NM_025137.4(SPG11):c.6759C>G (p.Asp2253Glu) rs141818132 0.00175
NM_001271.4(CHD2):c.4592+18G>A rs116022337 0.00174
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748 0.00174
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747 0.00172
NM_153252.5(BRWD3):c.769G>A (p.Val257Ile) rs112829587 0.00171
NM_018100.4(EFHC1):c.1069G>A (p.Glu357Lys) rs505760 0.00170
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506 0.00170
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576 0.00169
NM_016327.3(UPB1):c.917-1G>A rs143493067 0.00169
NM_213599.3(ANO5):c.2698A>C (p.Met900Leu) rs148293985 0.00169
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346 0.00168
NM_000159.4(GCDH):c.271+3G>A rs75430014 0.00167
NM_001128228.3(TPRN):c.1261C>T (p.Pro421Ser) rs72763296 0.00167
NM_001164508.2(NEB):c.4466G>A (p.Gly1489Asp) rs74482326 0.00166
NM_001379110.1(SLC9A6):c.1637G>A (p.Arg546Gln) rs146263125 0.00166
NM_001164508.2(NEB):c.4206T>A (p.Asn1402Lys) rs201169452 0.00165
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg) rs117358479 0.00165
NM_021098.3(CACNA1H):c.2759C>T (p.Thr920Met) rs59052554 0.00164
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092 0.00163
NM_001382567.1(STIM1):c.1664C>T (p.Ser555Phe) rs141215990 0.00163
NM_000036.3(AMPD1):c.334G>A (p.Val112Met) rs61741025 0.00162
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_004006.3(DMD):c.1483-7C>G rs112463388 0.00162
NM_001244008.2(KIF1A):c.3085G>A (p.Val1029Met) rs183359489 0.00160
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe) rs145433186 0.00160
NM_001127178.3(PIGG):c.1114+9A>G rs150974506 0.00159
NM_001374828.1(ARID1B):c.3714+11G>A rs368322992 0.00159
NM_002160.4(TNC):c.628G>A (p.Gly210Ser) rs144032672 0.00159
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_003482.4(KMT2D):c.10993C>G (p.Pro3665Ala) rs112170602 0.00159
NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val) rs200250181 0.00159
NM_001099857.5(IKBKG):c.169G>A (p.Glu57Lys) rs148695964 0.00158
NM_001853.4(COL9A3):c.791C>T (p.Ala264Val) rs140330666 0.00157
NM_005334.3(HCFC1):c.3794C>T (p.Ser1265Leu) rs189548179 0.00157
NM_005559.4(LAMA1):c.5660+7A>G rs144775658 0.00157
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys) rs139503476 0.00157
NM_015443.4(KANSL1):c.1826G>A (p.Ser609Asn) rs138698439 0.00157
NM_152424.4(AMER1):c.2651C>T (p.Pro884Leu) rs201092215 0.00157
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423 0.00156
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_015443.4(KANSL1):c.607G>C (p.Gly203Arg) rs138175526 0.00156
NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn) rs191357265 0.00156
NM_020631.6(PLEKHG5):c.1932T>C (p.Pro644=) rs150807400 0.00156
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00155
NM_004667.6(HERC2):c.7058C>G (p.Thr2353Ser) rs145370046 0.00155
NM_033380.3(COL4A5):c.3148C>T (p.Pro1050Ser) rs143945573 0.00155
NM_002488.5(NDUFA2):c.40C>G (p.Leu14Val) rs35672074 0.00154
NM_003737.4(DCHS1):c.4555C>T (p.Pro1519Ser) rs199544459 0.00154
NM_020754.4(ARHGAP31):c.2344C>A (p.Pro782Thr) rs139659618 0.00154
NM_138959.3(VANGL1):c.323A>G (p.Lys108Arg) rs141673853 0.00154
NM_053025.4(MYLK):c.4620-18G>A rs41305835 0.00153
NM_080680.3(COL11A2):c.2336C>T (p.Pro779Leu) rs150877886 0.00153
NM_000377.3(WAS):c.1378C>T (p.Pro460Ser) rs143885622 0.00152
NM_000533.5(PLP1):c.-31C>T rs2233695 0.00152
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282 0.00152
NM_001040436.3(YARS2):c.104C>A (p.Ala35Asp) rs149447502 0.00151
NM_017950.4(CCDC40):c.856-18G>A rs189118723 0.00151
NM_000037.4(ANK1):c.2495G>A (p.Arg832Gln) rs34523608 0.00150
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_004667.6(HERC2):c.7316C>A (p.Ala2439Asp) rs200823016 0.00150
NM_013275.6(ANKRD11):c.5088C>G (p.Asp1696Glu) rs146205997 0.00150
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00149
NM_020812.4(DOCK6):c.5939+6C>T rs200393834 0.00149
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_000426.4(LAMA2):c.74C>T (p.Pro25Leu) rs145310035 0.00147
NM_001369268.1(ACAN):c.230G>A (p.Arg77His) rs199701329 0.00147
NM_020754.4(ARHGAP31):c.662C>T (p.Pro221Leu) rs751793 0.00146
NM_001291303.3(FAT4):c.5275A>G (p.Ile1759Val) rs145639192 0.00145
NM_006766.5(KAT6A):c.4952C>T (p.Pro1651Leu) rs144417514 0.00145
NM_015275.3(WASHC4):c.878G>A (p.Arg293Gln) rs35267264 0.00145
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715 0.00145
NM_000397.4(CYBB):c.1551T>A (p.Asp517Glu) rs151344452 0.00144
NM_006019.4(TCIRG1):c.482C>T (p.Pro161Leu) rs34227834 0.00144
NM_018263.6(ASXL2):c.140+186A>G rs138250852 0.00142
NM_019066.5(MAGEL2):c.2074G>A (p.Val692Ile) rs200926181 0.00142
NM_001256447.2(BCAP31):c.383C>T (p.Thr128Met) rs111450526 0.00141
NM_016474.5(CCDC174):c.1106-10T>A rs144121914 0.00141
NM_024408.4(NOTCH2):c.6223G>A (p.Val2075Met) rs150516342 0.00141
NM_015570.4(AUTS2):c.611A>G (p.Glu204Gly) rs149961458 0.00140
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr) rs76249490 0.00140
NM_001128159.3(VPS53):c.2062A>G (p.Ile688Val) rs140376049 0.00139
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn) rs184143186 0.00138
NM_000044.6(AR):c.2395C>G (p.Gln799Glu) rs137852591 0.00137
NM_001083961.2(WDR62):c.2666T>C (p.Met889Thr) rs139749569 0.00137
NM_005559.4(LAMA1):c.5867A>G (p.Asn1956Ser) rs117433399 0.00136
NM_001953.5(TYMP):c.242G>A (p.Arg81Gln) rs143789597 0.00135
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr) rs148262378 0.00135
NM_016219.5(MAN1B1):c.337T>C (p.Phe113Leu) rs147529965 0.00135
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_002473.6(MYH9):c.5323A>G (p.Lys1775Glu) rs145139708 0.00134
NM_016341.4(PLCE1):c.1495C>T (p.Arg499Cys) rs61751493 0.00134
NM_016729.3(FOLR1):c.493+2T>C rs144637717 0.00134
NM_024570.4(RNASEH2B):c.859G>T (p.Ala287Ser) rs144408326 0.00132
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916 0.00131
NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn) rs142272833 0.00130
NM_014361.4(CNTN5):c.1047A>T (p.Lys349Asn) rs186615197 0.00130
NM_020442.6(VARS2):c.2551C>T (p.Arg851Cys) rs138855624 0.00129
NM_033641.4(COL4A6):c.2653G>T (p.Val885Phe) rs112034997 0.00129
NM_001003841.3(SLC6A19):c.41G>A (p.Arg14Gln) rs147458082 0.00128
NM_001110556.2(FLNA):c.1813G>A (p.Asp605Asn) rs201093148 0.00128
NM_003072.5(SMARCA4):c.1419+9C>T rs374635008 0.00128
NM_005559.4(LAMA1):c.181G>A (p.Val61Ile) rs147676957 0.00128
NM_015338.6(ASXL1):c.252+11T>C rs143337375 0.00128
NM_001110556.2(FLNA):c.6023-10C>G rs72616474 0.00127
NM_014239.4(EIF2B2):c.380C>T (p.Ala127Val) rs150617429 0.00127
NM_020247.5(COQ8A):c.989A>G (p.Tyr330Cys) rs150243147 0.00127
NM_030632.3(ASXL3):c.3389C>G (p.Pro1130Arg) rs185753602 0.00127
NM_173076.3(ABCA12):c.485C>T (p.Ala162Val) rs149399707 0.00126
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_018714.3(COG1):c.401C>T (p.Ser134Leu) rs146066919 0.00125
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln) rs35625434 0.00124
NM_013275.6(ANKRD11):c.6020C>T (p.Pro2007Leu) rs200531141 0.00124
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060 0.00123
NM_001378615.1(CC2D2A):c.2813T>C (p.Met938Thr) rs61740537 0.00123
NM_005219.5(DIAPH1):c.1423G>A (p.Glu475Lys) rs193036129 0.00123
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730 0.00123
NM_001163809.2(WDR81):c.3532G>A (p.Ala1178Thr) rs151330612 0.00121
NM_013275.6(ANKRD11):c.6745C>T (p.Arg2249Cys) rs202081612 0.00121
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00120
NM_014822.4(SEC24D):c.1042-6C>G rs117971741 0.00120
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743 0.00118
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met) rs143713841 0.00118
NM_145239.3(PRRT2):c.133C>T (p.Pro45Ser) rs11556732 0.00118
NM_152564.5(VPS13B):c.11158G>A (p.Glu3720Lys) rs150393340 0.00118
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln) rs145644275 0.00117
NM_020458.4(TTC7A):c.1129C>G (p.Gln377Glu) rs117304542 0.00117
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_004870.4(MPDU1):c.43C>T (p.Pro15Ser) rs148935720 0.00116
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_001759.4(CCND2):c.785G>A (p.Arg262His) rs142170178 0.00115
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385 0.00114
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514 0.00114
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883 0.00113
NM_182895.5(SCARF2):c.2522C>T (p.Thr841Ile) rs537247534 0.00113
NM_002016.2(FLG):c.7801G>A (p.Asp2601Asn) rs146849256 0.00112
NM_004369.4(COL6A3):c.9524T>C (p.Met3175Thr) rs148183839 0.00112
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) rs144658100 0.00110
NM_001378609.3(OTOGL):c.6229T>G (p.Cys2077Gly) rs145929269 0.00110
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455 0.00110
NM_007059.4(KPTN):c.188G>A (p.Arg63Gln) rs142867197 0.00110
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373 0.00109
NM_005450.6(NOG):c.251C>A (p.Pro84His) rs138481449 0.00109
NM_020435.4(GJC2):c.1193C>T (p.Thr398Ile) rs140942230 0.00109
NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln) rs71318369 0.00108
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=) rs143547136 0.00108
NM_014049.5(ACAD9):c.988A>C (p.Lys330Gln) rs79530903 0.00107
NM_015559.3(SETBP1):c.3299A>G (p.His1100Arg) rs149162154 0.00107
NM_015100.4(POGZ):c.4089T>G (p.His1363Gln) rs142860188 0.00106
NM_016013.4(NDUFAF1):c.708G>A (p.Met236Ile) rs150539399 0.00106
NM_182961.4(SYNE1):c.13636G>A (p.Val4546Ile) rs4870093 0.00106
NM_020717.5(SHROOM4):c.4066G>A (p.Val1356Ile) rs137923286 0.00105
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00104
NM_001145809.2(MYH14):c.4033G>A (p.Ala1345Thr) rs148054042 0.00104
NM_004046.6(ATP5F1A):c.483+15C>T rs202110837 0.00104
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951 0.00104
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_080680.3(COL11A2):c.5000G>A (p.Arg1667His) rs146555195 0.00103
NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser) rs878852992 0.00102
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649 0.00102
NM_005787.6(ALG3):c.845C>T (p.Ala282Val) rs2233466 0.00102
NM_014780.5(CUL7):c.3490C>T (p.Arg1164Trp) rs201135654 0.00102
NM_000100.4(CSTB):c.121G>A (p.Val41Met) rs143153487 0.00101
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893 0.00101
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp) rs143030960 0.00099
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053 0.00098
NM_001197104.2(KMT2A):c.9391G>A (p.Gly3131Ser) rs150804738 0.00097
NM_001318510.2(ACSL4):c.806+3A>G rs183171123 0.00097
NM_003476.5(CSRP3):c.299G>A (p.Arg100His) rs138218523 0.00097
NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe) rs139337049 0.00097
NM_017837.4(PIGV):c.349A>G (p.Ile117Val) rs142192097 0.00097
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val) rs185341934 0.00096
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu) rs73973139 0.00096
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_004046.6(ATP5F1A):c.25G>A (p.Ala9Thr) rs141639003 0.00096
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr) rs200334298 0.00096
NM_194248.3(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576 0.00096
NM_000142.5(FGFR3):c.2149G>A (p.Ala717Thr) rs17882190 0.00095
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861 0.00095
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile) rs199511876 0.00094
NM_017636.4(TRPM4):c.2740A>T (p.Lys914Ter) rs140799936 0.00094
NM_001080516.2(GRXCR2):c.220C>G (p.Gln74Glu) rs151087704 0.00093
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val) rs200663107 0.00092
NM_016111.4(TELO2):c.32C>A (p.Ala11Asp) rs144863771 0.00092
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_000283.4(PDE6B):c.145G>T (p.Asp49Tyr) rs79826315 0.00091
NM_000310.4(PPT1):c.904A>G (p.Ile302Val) rs146902902 0.00091
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg) rs121908242 0.00091
NM_001388492.1(HTT):c.3344C>G (p.Ala1115Gly) rs1065747 0.00091
NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met) rs200164926 0.00091
NM_025074.7(FRAS1):c.2956G>A (p.Ala986Thr) rs111554790 0.00091
NM_182914.3(SYNE2):c.20161G>A (p.Ala6721Thr) rs140897155 0.00091
NM_001080517.3(SETD5):c.2927C>G (p.Ala976Gly) rs138685269 0.00090
NM_001384732.1(CPLANE1):c.9454G>A (p.Gly3152Arg) rs144081297 0.00090
NM_006662.3(SRCAP):c.1559G>A (p.Ser520Asn) rs139339184 0.00090
NM_052865.4(MGME1):c.86C>G (p.Ser29Cys) rs143811282 0.00090
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00089
NM_001197104.2(KMT2A):c.10850T>C (p.Leu3617Pro) rs146191865 0.00089
NM_001369268.1(ACAN):c.7189G>A (p.Val2397Ile) rs150555123 0.00088
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) rs141978499 0.00088
NM_003412.4(ZIC1):c.1240A>G (p.Thr414Ala) rs143292136 0.00088
NM_006015.6(ARID1A):c.472C>T (p.Pro158Ser) rs567246585 0.00088
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val) rs41308297 0.00088
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) rs121918769 0.00087
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) rs147399860 0.00087
NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val) rs112005830 0.00087
NM_000123.4(ERCC5):c.640C>T (p.Arg214Cys) rs56255799 0.00086
NM_000426.4(LAMA2):c.922G>A (p.Glu308Lys) rs146462599 0.00086
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys) rs188772875 0.00086
NM_181486.4(TBX5):c.316A>G (p.Ile106Val) rs147710408 0.00086
NM_000098.3(CPT2):c.353A>G (p.Asp118Gly) rs148035648 0.00085
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807 0.00085
NM_000540.3(RYR1):c.4088C>T (p.Ala1363Val) rs774603798 0.00084
NM_000748.3(CHRNB2):c.1432T>C (p.Phe478Leu) rs79137415 0.00084
NM_001429.4(EP300):c.4779+18A>G rs146245982 0.00084
NM_014324.6(AMACR):c.554T>C (p.Val185Ala) rs145786819 0.00084
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 0.00083
NM_001127649.3(PEX26):c.728C>T (p.Ala243Val) rs149153003 0.00083
NM_003737.4(DCHS1):c.1546G>A (p.Ala516Thr) rs142972252 0.00083
NM_016373.4(WWOX):c.1141C>T (p.Arg381Cys) rs200461412 0.00083
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00083
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638 0.00083
NM_019066.5(MAGEL2):c.2281G>C (p.Ala761Pro) rs146970674 0.00083
NM_138959.3(VANGL1):c.274A>G (p.Ile92Val) rs143196463 0.00083
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00082
NM_004484.4(GPC3):c.826G>A (p.Gly276Ser) rs141100113 0.00082
NM_006662.3(SRCAP):c.3868A>G (p.Ser1290Gly) rs150246733 0.00081
NM_007325.5(GRIA3):c.397G>A (p.Ala133Thr) rs151086692 0.00081
NM_016529.6(ATP8A2):c.76+10G>A rs369291641 0.00081
NM_153766.3(KCNJ1):c.180C>T (p.Tyr60=) rs104894244 0.00081
NM_001044.5(SLC6A3):c.499C>T (p.Leu167Phe) rs71653633 0.00080
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975 0.00080
NM_001291415.2(KDM6A):c.1907C>T (p.Thr636Met) rs141353229 0.00079
NM_001371623.1(TCOF1):c.1120G>T (p.Ala374Ser) rs112039991 0.00079
NM_003482.4(KMT2D):c.1258+3G>A rs368687683 0.00079
NM_152743.4(BRAT1):c.2041G>A (p.Glu681Lys) rs145833100 0.00079
NM_003482.4(KMT2D):c.9662C>A (p.Thr3221Asn) rs200601717 0.00078
NM_005732.4(RAD50):c.3036+5G>A rs181016343 0.00078
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His) rs148169214 0.00077
NM_001292063.2(OTOG):c.4012C>T (p.Arg1338Trp) rs61734125 0.00076
NM_003193.5(TBCE):c.253A>G (p.Ile85Val) rs143886167 0.00076
NM_003482.4(KMT2D):c.3572C>T (p.Pro1191Leu) rs112236653 0.00076
NM_005188.4(CBL):c.2036+9G>T rs142704935 0.00076
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr) rs146517083 0.00076
NM_017721.5(CC2D1A):c.2508G>C (p.Glu836Asp) rs34146052 0.00076
NM_018706.7(DHTKD1):c.1550C>T (p.Ala517Val) rs142006153 0.00076
NM_152564.5(VPS13B):c.2596G>A (p.Val866Ile) rs150185067 0.00076
NM_000124.4(ERCC6):c.2875G>T (p.Val959Leu) rs190863815 0.00075
NM_004369.4(COL6A3):c.5610C>A (p.Ser1870Arg) rs113153193 0.00075
NM_024306.5(FA2H):c.338G>A (p.Arg113Gln) rs147632811 0.00075
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln) rs202190568 0.00074
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly) rs121917956 0.00073
NM_003200.5(TCF3):c.822+14C>T rs201725633 0.00073
NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln) rs104893904 0.00073
NM_138691.3(TMC1):c.924C>G (p.Asp308Glu) rs113342704 0.00073
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp) rs138081804 0.00072
NM_019066.5(MAGEL2):c.2290G>A (p.Ala764Thr) rs201984254 0.00072
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279 0.00072
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766 0.00071
NM_001382391.1(CSPP1):c.104A>G (p.Lys35Arg) rs200158932 0.00071
NM_004836.7(EIF2AK3):c.2014G>A (p.Glu672Lys) rs35226268 0.00071
NM_000543.5(SMPD1):c.1598C>T (p.Pro533Leu) rs199915216 0.00070
NM_001128126.3(AP4S1):c.306+42G>A rs74807133 0.00070
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu) rs139717960 0.00069
NM_004380.3(CREBBP):c.383C>G (p.Ser128Cys) rs55790011 0.00069
NM_001378120.1(MBD5):c.3743A>G (p.Gln1248Arg) rs143028540 0.00068
NM_006267.5(RANBP2):c.3226T>G (p.Leu1076Val) rs142768885 0.00068
NM_020822.3(KCNT1):c.601-13C>G rs202113794 0.00068
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086 0.00067
NM_020964.3(EPG5):c.299C>T (p.Thr100Ile) rs200530606 0.00067
NM_144672.4(OTOA):c.236G>A (p.Arg79Gln) rs147088274 0.00067
NM_000089.4(COL1A2):c.3313G>A (p.Gly1105Ser) rs139851311 0.00066
NM_000426.4(LAMA2):c.6268+5G>C rs182064878 0.00066
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val) rs147445499 0.00066
NM_015158.5(KANK1):c.1760A>G (p.Glu587Gly) rs141234076 0.00066
NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val) rs142981643 0.00066
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610 0.00065
NM_001197104.2(KMT2A):c.2726G>A (p.Gly909Asp) rs139227835 0.00065
NM_001324144.2(ZNF41):c.332C>T (p.Pro111Leu) rs104894955 0.00065
NM_002180.3(IGHMBP2):c.548-10T>G rs139207271 0.00065
NM_006767.4(LZTR1):c.1353+8C>G rs75959644 0.00065
NM_013339.4(ALG6):c.257+5G>A rs199682486 0.00065
NM_017909.4(RMND1):c.668C>T (p.Pro223Leu) rs142521318 0.00065
NM_173477.5(USH1G):c.83C>T (p.Pro28Leu) rs145448362 0.00065
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946 0.00064
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714 0.00064
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp) rs200038418 0.00064
NM_000377.3(WAS):c.538C>A (p.His180Asn) rs145040665 0.00063
NM_000426.4(LAMA2):c.6128A>G (p.Gln2043Arg) rs144155507 0.00063
NM_001018115.3(FANCD2):c.3446C>T (p.Ala1149Val) rs147675860 0.00063
NM_001482.3(GATM):c.407C>T (p.Thr136Met) rs148564534 0.00063
NM_033028.5(BBS4):c.514A>G (p.Ile172Val) rs145265395 0.00063
NM_003482.4(KMT2D):c.12524C>A (p.Pro4175Gln) rs200315963 0.00062
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_000284.4(PDHA1):c.97G>C (p.Asp33His) rs150318528 0.00061
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu) rs117583120 0.00061
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374 0.00061
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955 0.00060
NM_001039591.3(USP9X):c.286G>T (p.Val96Leu) rs73480414 0.00058
NM_001077418.3(TMEM231):c.129C>T (p.Phe43=) rs377440297 0.00058
NM_002968.3(SALL1):c.809C>T (p.Pro270Leu) rs140827311 0.00058
NM_013266.4(CTNNA3):c.1900G>A (p.Glu634Lys) rs77165728 0.00058
NM_000153.4(GALC):c.349A>G (p.Met117Val) rs145580093 0.00057
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584 0.00057
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His) rs201252809 0.00057
NM_020822.3(KCNT1):c.3685A>G (p.Thr1229Ala) rs74533482 0.00057
NM_001365536.1(SCN9A):c.2392A>G (p.Met798Val) rs149707354 0.00056
NM_002470.4(MYH3):c.2683-14C>A rs202129717 0.00056
NM_004168.4(SDHA):c.550G>A (p.Gly184Arg) rs148246073 0.00056
NM_001102401.4(TTI2):c.581G>C (p.Gly194Ala) rs186443359 0.00054
NM_005633.4(SOS1):c.749T>C (p.Val250Ala) rs139290271 0.00054
NM_001080414.4(CCDC88C):c.590G>A (p.Arg197Gln) rs200769097 0.00053
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894 0.00053
NM_001367721.1(CASK):c.2297G>A (p.Arg766Gln) rs137964936 0.00053
NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu) rs141594765 0.00053
NM_022114.4(PRDM16):c.553A>G (p.Met185Val) rs376567517 0.00053
NM_174916.3(UBR1):c.3290C>T (p.Thr1097Met) rs142285781 0.00053
NM_000047.3(ARSL):c.775C>G (p.His259Asp) rs138149353 0.00052
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_014332.3(SMPX):c.132G>A (p.Glu44=) rs199907508 0.00052
NM_018341.3(ERMARD):c.563T>C (p.Val188Ala) rs74451194 0.00052
NM_000016.6(ACADM):c.600-18G>A rs370523609 0.00051
NM_001267550.2(TTN):c.23378-10C>A rs72648975 0.00051
NM_003384.3(VRK1):c.858G>T (p.Met286Ile) rs139476915 0.00051
NM_004525.3(LRP2):c.13610A>C (p.Gln4537Pro) rs188918037 0.00049
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val) rs201819880 0.00048
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_013275.6(ANKRD11):c.4237G>A (p.Glu1413Lys) rs140373729 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_000260.4(MYO7A):c.4066A>T (p.Ser1356Cys) rs201195495 0.00046
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00046
NM_000548.5(TSC2):c.1839+6G>A rs45517204 0.00046
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) rs202029322 0.00046
NM_001318510.2(ACSL4):c.1325A>G (p.Tyr442Cys) rs200451158 0.00046
NM_032737.4(LMNB2):c.265-19C>T rs199577453 0.00046
NM_001080517.3(SETD5):c.2476+4C>T rs371030587 0.00045
NM_005726.6(TSFM):c.539G>C (p.Gly180Ala) rs138534976 0.00045
NM_013275.6(ANKRD11):c.6112A>G (p.Lys2038Glu) rs200724087 0.00045
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_004782.4(SNAP29):c.265G>A (p.Glu89Lys) rs151146863 0.00044
NM_000141.5(FGFR2):c.34G>A (p.Val12Met) rs143978938 0.00043
NM_002291.3(LAMB1):c.3124G>A (p.Gly1042Ser) rs149204722 0.00043
NM_016138.5(COQ7):c.136C>T (p.Arg46Trp) rs77337400 0.00043
NM_000815.5(GABRD):c.775G>A (p.Val259Ile) rs148908731 0.00042
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys) rs202094100 0.00042
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr) rs121909633 0.00042
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_001458.5(FLNC):c.7614G>T (p.Leu2538Phe) rs180834558 0.00041
NM_001851.6(COL9A1):c.2159G>A (p.Arg720Gln) rs192467838 0.00041
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121 0.00041
NM_006939.4(SOS2):c.2317G>C (p.Asp773His) rs114711076 0.00041
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642 0.00040
NM_000817.3(GAD1):c.682A>C (p.Ile228Leu) rs45566933 0.00040
NM_001080449.3(DNA2):c.2697+18T>C rs190301454 0.00040
NM_001184880.2(PCDH19):c.3439G>A (p.Val1147Ile) rs138771033 0.00040
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_001018113.3(FANCB):c.1658C>T (p.Thr553Met) rs146157131 0.00039
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214 0.00039
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112 0.00038
NM_020822.3(KCNT1):c.3340C>T (p.Arg1114Trp) rs370085077 0.00037
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu) rs118203504 0.00036
NM_004006.3(DMD):c.1934A>G (p.Asp645Gly) rs147822019 0.00036
NM_006267.5(RANBP2):c.7751A>G (p.Asp2584Gly) rs138022657 0.00036
NM_015443.4(KANSL1):c.2294C>T (p.Ala765Val) rs151099014 0.00036
NM_020975.6(RET):c.200G>A (p.Arg67His) rs192489011 0.00036
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_002168.4(IDH2):c.673G>A (p.Asp225Asn) rs142816010 0.00035
NM_020822.3(KCNT1):c.522G>A (p.Met174Ile) rs147551342 0.00035
NM_000787.4(DBH):c.1025-6T>A rs199926239 0.00034
NM_004463.3(FGD1):c.935C>T (p.Pro312Leu) rs28935498 0.00034
NM_014159.7(SETD2):c.2251C>A (p.Pro751Thr) rs115788094 0.00034
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=) rs200092283 0.00034
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys) rs143820618 0.00034
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969 0.00033
NM_006514.4(SCN10A):c.905G>A (p.Arg302Gln) rs201955990 0.00033
NM_017547.4(FOXRED1):c.754C>T (p.Arg252Cys) rs146661281 0.00033
NM_001110556.2(FLNA):c.65A>G (p.Asp22Gly) rs782598729 0.00032
NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu) rs145061343 0.00032
NM_020754.4(ARHGAP31):c.2312T>C (p.Val771Ala) rs374149626 0.00032
NM_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln) rs200226466 0.00031
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile) rs146000949 0.00031
NM_000255.4(MMUT):c.878A>G (p.Gln293Arg) rs138374956 0.00029
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) rs200053635 0.00029
NM_003742.4(ABCB11):c.2594C>T (p.Ala865Val) rs118109635 0.00029
NM_014026.6(DCPS):c.791G>A (p.Arg264Gln) rs140377449 0.00029
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln) rs202112856 0.00029
NM_001378120.1(MBD5):c.4009A>G (p.Ile1337Val) rs115940994 0.00028
NM_006044.4(HDAC6):c.3132A>G (p.Ile1044Met) rs367767249 0.00028
NM_018718.3(CEP41):c.422+7G>A rs190680511 0.00028
NM_000264.5(PTCH1):c.1216-6C>A rs186008764 0.00027
NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn) rs200141437 0.00026
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_012188.5(FOXI1):c.308G>C (p.Gly103Ala) rs370450076 0.00026
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000168.6(GLI3):c.3598C>G (p.His1200Asp) rs145069572 0.00025
NM_002025.4(AFF2):c.1121C>A (p.Ser374Tyr) rs200306870 0.00025
NM_001042681.2(RERE):c.1964C>T (p.Ala655Val) rs149900041 0.00024
NM_001953.5(TYMP):c.1127G>A (p.Arg376Gln) rs765007158 0.00024
NM_003850.3(SUCLA2):c.49C>G (p.Arg17Gly) rs200124902 0.00024
NM_002693.3(POLG):c.408C>G (p.Asp136Glu) rs115109291 0.00023
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185 0.00023
NM_199069.2(NDUFAF3):c.188dup (p.Tyr63Ter) rs756339822 0.00023
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_022095.4(ZNF335):c.808C>T (p.Arg270Cys) rs145110365 0.00022
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277 0.00022
NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala) rs201434579 0.00021
NM_001032221.6(STXBP1):c.1351G>A (p.Val451Ile) rs150259704 0.00021
NM_004944.4(DNASE1L3):c.217G>A (p.Glu73Lys) rs149330798 0.00021
NM_006432.5(NPC2):c.292A>C (p.Asn98His) rs142858704 0.00021
NM_194248.3(OTOF):c.1424A>G (p.Glu475Gly) rs111033396 0.00021
NM_000059.4(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643 0.00020
NM_000426.4(LAMA2):c.8988+15T>C rs201041465 0.00020
NM_001024630.4(RUNX2):c.254C>T (p.Ala85Val) rs372138746 0.00020
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp) rs376103091 0.00020
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser) rs199922877 0.00020
NM_004006.3(DMD):c.1666G>A (p.Asp556Asn) rs182708940 0.00020
NM_022464.5(SIL1):c.1232G>A (p.Arg411His) rs192255604 0.00020
NM_152564.5(VPS13B):c.2377C>G (p.Leu793Val) rs141638933 0.00020
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_005006.7(NDUFS1):c.738-20A>G rs200128097 0.00019
NM_005633.4(SOS1):c.233T>G (p.Phe78Cys) rs201352584 0.00019
NM_015426.5(POC1A):c.784C>T (p.Arg262Trp) rs146976547 0.00019
NM_015443.4(KANSL1):c.620A>G (p.Asn207Ser) rs144882998 0.00019
NM_080425.4(GNAS):c.678T>G (p.Phe226Leu) rs201332059 0.00019
NM_001374828.1(ARID1B):c.446A>G (p.Asn149Ser) rs776745618 0.00018
NM_080680.3(COL11A2):c.2017-5T>G rs200523422 0.00018
NM_001177316.2(SLC34A3):c.448+1G>A rs150841256 0.00017
NM_001330260.2(SCN8A):c.3148G>A (p.Gly1050Ser) rs202006479 0.00017
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg) rs182698253 0.00017
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp) rs140452381 0.00016
NM_001083962.2(TCF4):c.1487-5G>A rs749176054 0.00016
NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp) rs202182978 0.00016
NM_001374828.1(ARID1B):c.4603T>G (p.Ser1535Ala) rs145516400 0.00016
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_005676.5(RBM10):c.201+12G>A rs367790106 0.00016
NM_007215.4(POLG2):c.674G>A (p.Arg225Gln) rs148101254 0.00016
NM_017780.4(CHD7):c.1046A>G (p.Asn349Ser) rs200644351 0.00016
NM_025114.4(CEP290):c.523C>A (p.Gln175Lys) rs202159966 0.00016
NM_030665.4(RAI1):c.4693G>A (p.Val1565Met) rs368106957 0.00016
NM_001379200.1(TBX1):c.913C>A (p.Arg305=) rs751339103 0.00015
NM_014795.4(ZEB2):c.10C>G (p.Pro4Ala) rs146394306 0.00015
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00014
NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile) rs267607134 0.00014
NM_000264.5(PTCH1):c.2678G>A (p.Arg893His) rs138154222 0.00014
NM_000266.4(NDP):c.385G>A (p.Glu129Lys) rs756474198 0.00014
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587 0.00014
NM_001164508.2(NEB):c.539A>G (p.Lys180Arg) rs200719359 0.00014
NM_001330311.2(DVL1):c.1777C>T (p.Arg593Trp) rs372681220 0.00014
NM_003737.4(DCHS1):c.1103G>A (p.Ser368Asn) rs373185353 0.00014
NM_016327.3(UPB1):c.91G>A (p.Gly31Ser) rs200145797 0.00014
NM_020822.3(KCNT1):c.3058C>T (p.Arg1020Cys) rs747605326 0.00014
NM_201384.3(PLEC):c.12671C>G (p.Ala4224Gly) rs368212208 0.00014
NM_000071.3(CBS):c.1072G>A (p.Val358Met) rs148589243 0.00013
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_001374828.1(ARID1B):c.901C>G (p.Pro301Ala) rs1044746171 0.00013
NM_001376256.1(CRYM):c.8G>T (p.Arg3Leu) rs149797560 0.00013
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu) rs146251034 0.00013
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923 0.00013
NM_000195.5(HPS1):c.1846G>A (p.Glu616Lys) rs775570414 0.00012
NM_001110792.2(MECP2):c.1032C>T (p.Ser344=) rs148744894 0.00012
NM_001267550.2(TTN):c.33796C>T (p.Pro11266Ser) rs201120871 0.00012
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966 0.00012
NM_024700.4(SNIP1):c.559C>T (p.Arg187Trp) rs186332019 0.00012
NM_001378615.1(CC2D2A):c.332C>T (p.Ala111Val) rs137878385 0.00011
NM_003482.4(KMT2D):c.11278G>A (p.Gly3760Ser) rs373071174 0.00011
NM_017866.6(TMEM70):c.317-2A>G rs183973249 0.00011
NM_025114.4(CEP290):c.6629G>A (p.Arg2210His) rs371833544 0.00011
NM_000153.4(GALC):c.195G>C (p.Gly65=) rs886042057 0.00010
NM_001130144.3(LTBP3):c.1550C>T (p.Pro517Leu) rs145001056 0.00010
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln) rs191391414 0.00010