ClinVar Miner

Variants from SIB Swiss Institute of Bioinformatics with conflicting interpretations

Location: Switzerland  Primary collection method: curation
Minimum review status of the submission from SIB Swiss Institute of Bioinformatics: Collection method of the submission from SIB Swiss Institute of Bioinformatics:
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
341 202 0 455 32 0 137 601

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
SIB Swiss Institute of Bioinformatics pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 21 2 0 0
likely pathogenic 391 0 16 0 0
uncertain significance 105 23 0 13 7
likely benign 0 1 8 0 11
benign 0 0 8 32 0

Submitter to submitter summary #

Total submitters: 145
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
OMIM 0 118 0 342 0 0 99 441
Invitae 0 60 0 46 13 0 6 65
Baylor Genetics 0 31 0 43 1 0 6 50
Illumina Laboratory Services, Illumina 0 47 0 26 14 0 3 43
Natera, Inc. 0 29 0 22 4 0 0 26
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 12 0 24 1 0 0 25
Mendelics 0 14 0 15 4 0 3 22
Institute of Human Genetics, University of Leipzig Medical Center 0 15 0 14 1 0 6 21
3billion 0 21 0 16 0 0 2 18
Revvity Omics, Revvity 0 16 0 13 0 0 4 17
Fulgent Genetics, Fulgent Genetics 0 9 0 17 0 0 0 17
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 13 0 15 0 0 1 16
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 8 0 11 0 0 2 13
Genetic Services Laboratory, University of Chicago 0 11 0 11 0 0 0 11
Genome-Nilou Lab 0 23 0 9 2 0 0 11
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 13 0 8 0 0 2 10
Neuberg Centre For Genomic Medicine, NCGM 0 7 0 9 0 0 1 10
Counsyl 0 15 0 8 0 0 0 8
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 8 0 5 2 0 0 7
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 4 0 6 0 0 1 7
DASA 0 1 0 7 0 0 0 7
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 7 0 5 0 0 1 6
MGZ Medical Genetics Center 0 11 0 6 0 0 0 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 4 0 4 1 0 1 6
Genomics England Pilot Project, Genomics England 0 5 0 6 0 0 0 6
Centogene AG - the Rare Disease Company 0 2 0 4 0 0 1 5
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 5 0 0 0 5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 8 0 5 0 0 0 5
Myriad Genetics, Inc. 0 7 0 5 0 0 0 5
Paris Brain Institute, Inserm - ICM 0 3 0 5 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 8 0 4 0 0 0 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 5 0 2 0 0 2 4
Institute of Human Genetics, University Hospital of Duesseldorf 0 1 0 3 0 0 1 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 12 0 3 1 0 0 4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 5 0 3 0 0 1 4
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 3 0 3 0 0 1 4
Johns Hopkins Genomics, Johns Hopkins University 0 4 0 3 1 0 0 4
New York Genome Center 0 5 0 3 1 0 0 4
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 3 0 4 0 0 0 4
Athena Diagnostics 0 7 0 3 0 0 0 3
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 2 0 1 2 0 0 3
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 4 0 3 0 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 2 0 3 0 0 0 3
Clinical Genomics Laboratory, Washington University in St. Louis 0 2 0 2 0 0 1 3
Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues 0 0 0 3 0 0 0 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 0 0 2 0 0 1 3
Clinical Genomics Program, Stanford Medicine 0 0 0 3 0 0 0 3
Lifecell International Pvt. Ltd 0 1 0 3 0 0 0 3
Ambry Genetics 0 1 0 1 1 0 0 2
Institute of Human Genetics, Cologne University 0 0 0 2 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 0 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 1 0 0 1 2
UW Hindbrain Malformation Research Program, University of Washington 0 0 0 1 0 0 1 2
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 0 2 0 0 0 2
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 1 0 2 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 2 0 0 0 2
Color Diagnostics, LLC DBA Color Health 0 4 0 1 1 0 0 2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 2 0 1 0 0 1 2
Daryl Scott Lab, Baylor College of Medicine 0 1 0 2 0 0 0 2
Undiagnosed Diseases Network, NIH 0 0 0 2 0 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 1 0 2 0 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 0 2 0 0 0 2
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 1 0 2 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 2 0 2 0 0 0 2
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University 0 2 0 2 0 0 0 2
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 1 0 2 0 0 0 2
Molecular Medicine for Neurodegenerative and Neuromuscular Diseases Unit, IRCCS Fondazione Stella Maris 0 1 0 2 0 0 0 2
Pediatric Genetics Clinic, Sheba Medical Center 0 0 0 2 0 0 0 2
Suma Genomics 0 1 0 2 0 0 0 2
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 0 2 0 0 0 2
Molecular Genetics, Royal Melbourne Hospital 0 1 0 2 0 0 0 2
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 1 0 2 0 0 0 2
Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL) 0 2 0 2 0 0 0 2
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 0 0 0 1 0 0 1
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 0 1 0 0 0 1
Institute for Human Genetics, University Medical Center Freiburg 0 0 0 1 0 0 0 1
Clinical Biochemistry Laboratory, Health Services Laboratory 0 0 0 1 0 0 0 1
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital 0 0 0 1 0 0 0 1
PreventionGenetics, part of Exact Sciences 0 14 0 1 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 0 1 0 0 0 0 1 1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals 0 2 0 1 0 0 0 1
Clinical Genetics, Academic Medical Center 0 1 0 1 0 0 0 1
MyeliNeuroGene Lab, McGill University Health Center Research Institute 0 0 0 1 0 0 0 1
Nyegaard lab; Aarhus University 0 0 0 1 0 0 0 1
LDLR-LOVD, British Heart Foundation 0 0 0 0 0 0 1 1
RettBASE 0 0 0 0 1 0 0 1
Center for Genetic Medicine Research, Children's National Medical Center 0 1 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 0 0 0 1 1
Department of Medical Genetics, Oslo University Hospital 0 1 0 1 0 0 0 1
Center for Medical Genetics Ghent, University of Ghent 0 2 0 0 0 0 1 1
Division of Human Genetics, Children's Hospital of Philadelphia 0 1 0 1 0 0 0 1
Centre of Medical Genetics, University of Antwerp 0 1 0 0 1 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 1 0 1 0 0 0 1
Neurogenetics of motion laboratory, Montreal Neurological Institute 0 0 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 3 0 1 0 0 0 1
Albrecht-Kossel-Institute, Medical University Rostock 0 0 0 0 1 0 0 1
Hadassah Hebrew University Medical Center 0 0 0 1 0 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 0 0 0 1 1
Medical Genetics, University of Parma 0 0 0 0 1 0 0 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 0 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine 0 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 2 0 1 0 0 0 1
Institute Of Molecular Biology And Genetics, Federal Almazov National Medical Research Centre 0 0 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 0 1 0 0 0 1
Diagnostic Laboratory, Strasbourg University Hospital 0 0 0 1 0 0 0 1
Medical Molecular Genetics Department, National Research Center 0 0 0 1 0 0 0 1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences 0 0 0 0 0 0 1 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 0 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 0 0 1 0 0 0 1
Bruce Lefroy Centre, Murdoch Childrens Research Institute 0 0 0 0 0 0 1 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris 0 1 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 1 0 0 0 1
Yoda Diagnostics Pvt Ltd, YODA Diagnostics Pvt Ltd 0 0 0 0 0 0 1 1
Yale Center for Mendelian Genomics, Yale University 0 0 0 1 0 0 0 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 1 0 0 1 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 0 0 0 0 0 1 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 0 1 0 0 0 1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 5 0 0 1 0 0 1
Dan Cohn Lab, University Of California Los Angeles 0 0 0 1 0 0 0 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 0 0 1 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 1 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 2 0 1 0 0 0 1
Laboratory of Medical Genetics, University of Torino 0 0 0 0 0 0 1 1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City 0 1 0 0 0 0 1 1
Institute of Human Genetics, Heidelberg University 0 1 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 1 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 0 0 0 0 1 1
Reproductive Health Research and Development, BGI Genomics 0 1 0 1 0 0 0 1
CFTR-France 0 0 0 1 0 0 0 1
O&I group, Department of Genetics, University Medical Center of Groningen 0 0 0 0 0 0 1 1
Laboratory of Genetics in Ophthalmology, Institut Imagine 0 1 0 1 0 0 0 1
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel 0 0 0 1 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 0 0 1 0 0 0 1
Department of Medical Genetics, Hue University of Medicine and Pharmacy 0 0 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 0 0 0 1 1
Laboratory of Molecular Genetics, Children's Memorial Health Institute 0 0 0 1 0 0 0 1
Medical Genetics Lab, Xi'an People's Hospital(Xi'an Fourth Hospital) 0 0 0 1 0 0 0 1
Neurology Department of Pediatrics, The Third Affiliated Hospital of Zhengzhou University 0 0 0 0 0 0 1 1
CMT Laboratory, Bogazici University 0 0 0 1 0 0 0 1
Neurogenomics Lab, Neuroscience Institute, University Of Cape Town 0 1 0 1 0 0 0 1
Inherited Neuropathy Consortium Ii, University Of Miami 0 0 0 0 0 0 1 1
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 3 0 1 0 0 0 1
Shengli Clinical Medical College Of Fujian Medical University, Fujian Provincial Hospital 0 0 0 1 0 0 0 1
All of Us Research Program, National Institutes of Health 0 3 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 601
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_014324.6(AMACR):c.717G>T (p.Gln239His) rs34677 0.11264
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg) rs696723 0.06184
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410 0.04825
NM_057176.3(BSND):c.127G>A (p.Val43Ile) rs34561376 0.04587
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu) rs8177536 0.03119
NM_021252.5(RAB18):c.592G>A (p.Ala198Thr) rs11015859 0.02882
NM_130849.4(SLC39A4):c.251C>T (p.Pro84Leu) rs117535951 0.02765
NM_014049.5(ACAD9):c.976G>A (p.Ala326Thr) rs115532916 0.02662
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818 0.02573
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met) rs45500692 0.02436
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn) rs138579182 0.02227
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285 0.02088
NM_001371623.1(TCOF1):c.4295G>C (p.Gly1432Ala) rs45491898 0.01804
NM_006502.3(POLH):c.1783A>G (p.Met595Val) rs9333555 0.01768
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly) rs17592 0.01574
NM_000447.3(PSEN2):c.185G>A (p.Arg62His) rs58973334 0.01433
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792 0.01187
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148 0.01138
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748 0.01047
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180 0.00920
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879 0.00790
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366 0.00773
NM_002693.3(POLG):c.1636C>T (p.Arg546Cys) rs2307447 0.00542
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met) rs41298747 0.00512
NM_153026.3(PRICKLE1):c.370G>A (p.Ala124Thr) rs79087668 0.00498
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328 0.00483
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr) rs61753399 0.00482
NM_031448.6(C19orf12):c.392A>C (p.Lys131Thr) rs79915936 0.00444
NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp) rs201472270 0.00373
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909 0.00359
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674 0.00340
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_001110556.2(FLNA):c.1582G>A (p.Val528Met) rs143873938 0.00313
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722 0.00262
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00220
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373 0.00194
NM_014946.4(SPAST):c.484G>A (p.Val162Ile) rs141944844 0.00192
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00190
NM_022367.4(SEMA4A):c.1529G>A (p.Arg510Gln) rs2075164 0.00170
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_144666.3(DNHD1):c.8782C>T (p.Arg2928Ter) rs199752008 0.00136
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300 0.00134
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg) rs35201073 0.00128
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg) rs199727787 0.00116
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054 0.00113
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser) rs61752387 0.00108
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala) rs138016359 0.00088
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) rs121918769 0.00087
NM_000071.3(CBS):c.52C>T (p.Arg18Cys) rs201827340 0.00086
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286 0.00083
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter) rs763672163 0.00071
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_015971.4(MRPS7):c.550A>G (p.Met184Val) rs115047866 0.00067
NM_021067.5(GINS1):c.247C>T (p.Arg83Cys) rs137901350 0.00066
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_002890.3(RASA1):c.1583A>G (p.Tyr528Cys) rs145752649 0.00043
NM_001378120.1(MBD5):c.1382G>A (p.Arg461His) rs139964770 0.00042
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00041
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser) rs121918363 0.00041
NM_198239.2(CCN6):c.248G>A (p.Gly83Glu) rs147337485 0.00039
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter) rs115209243 0.00031
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn) rs28934891 0.00026
NM_005518.4(HMGCS2):c.634G>A (p.Gly212Arg) rs137852638 0.00026
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282 0.00025
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764 0.00024
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) rs137852988 0.00022
NM_001144869.3(LIPT2):c.377T>G (p.Leu126Arg) rs753904927 0.00020
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_002226.5(JAG2):c.2044C>T (p.Pro682Ser) rs200708284 0.00019
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_004183.4(BEST1):c.584C>T (p.Ala195Val) rs200277476 0.00016
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp) rs201725369 0.00016
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719 0.00015
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_144988.4(ALG14):c.220G>A (p.Asp74Asn) rs769114543 0.00012
NM_194436.3(LDHD):c.1319C>T (p.Thr440Met) rs764877688 0.00012
NM_000038.6(APC):c.3875C>T (p.Thr1292Met) rs371113837 0.00011
NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln) rs149419694 0.00011
NM_005956.4(MTHFD1):c.146C>T (p.Ser49Phe) rs370444838 0.00011
NM_007186.6(CEP250):c.4006C>T (p.Arg1336Ter) rs774702094 0.00011
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 0.00011
NM_003504.5(CDC45):c.469C>T (p.Arg157Cys) rs540217942 0.00010
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778 0.00010
NM_053025.4(MYLK):c.1133G>A (p.Arg378His) rs56378658 0.00010
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628 0.00010
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381 0.00009
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) rs774130993 0.00009
NM_001102564.3(IFT43):c.100G>A (p.Glu34Lys) rs140366557 0.00009
NM_006651.4(CPLX1):c.382C>A (p.Leu128Met) rs371709824 0.00009
NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys) rs143739249 0.00009
NM_001287491.2(TET3):c.2254C>T (p.Arg752Cys) rs534089911 0.00008
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg) rs375401970 0.00008
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) rs28940286 0.00007
NM_005956.4(MTHFD1):c.517C>T (p.Arg173Cys) rs141210410 0.00007
NM_024844.5(NUP85):c.1933C>T (p.Arg645Trp) rs368572297 0.00007
NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser) rs61753000 0.00006
NM_001139.3(ALOX12B):c.1579G>A (p.Val527Met) rs199545653 0.00006
NM_001930.4(DHPS):c.518A>G (p.Asn173Ser) rs758100382 0.00006
NM_002226.5(JAG2):c.2515G>A (p.Gly839Arg) rs781734780 0.00006
NM_003504.5(CDC45):c.1660C>T (p.Arg554Trp) rs778665661 0.00006
NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter) rs202059967 0.00006
NM_018230.3(NUP133):c.3164T>C (p.Leu1055Ser) rs376476266 0.00006
NM_018646.6(TRPV6):c.668T>C (p.Ile223Thr) rs529924080 0.00006
NM_020158.4(EXOSC5):c.341C>T (p.Thr114Ile) rs542429051 0.00006
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212 0.00006
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019 0.00006
NM_144988.4(ALG14):c.422T>G (p.Val141Gly) rs139005007 0.00006
NM_001144869.3(LIPT2):c.89T>C (p.Leu30Pro) rs539962457 0.00005
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) rs121918550 0.00005
NM_017646.6(TRIT1):c.1256A>C (p.His419Pro) rs566435653 0.00005
NM_020374.4(C12orf4):c.983T>C (p.Leu328Pro) rs1468772495 0.00005
NM_152268.4(PARS2):c.283G>A (p.Val95Ile) rs147227819 0.00005
NM_000049.4(ASPA):c.79G>A (p.Gly27Arg) rs766328537 0.00004
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056 0.00004
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu) rs121918010 0.00004
NM_017646.6(TRIT1):c.848T>G (p.Ile283Ser) rs199622789 0.00004
NM_017951.5(SMPD4):c.1220C>T (p.Pro407Leu) rs747433356 0.00004
NM_020433.5(JPH2):c.1282C>T (p.Gln428Ter) rs199896820 0.00004
NM_024580.6(EFL1):c.3284G>A (p.Arg1095Gln) rs376095522 0.00004
NM_025103.4(IFT74):c.535C>G (p.Gln179Glu) rs150219690 0.00004
NM_144988.4(ALG14):c.326G>A (p.Arg109Gln) rs199689080 0.00004
NM_181741.4(ORC4):c.521A>G (p.Tyr174Cys) rs387906847 0.00004
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn) rs61752905 0.00003
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001243133.2(NLRP3):c.55G>C (p.Asp19His) rs200154873 0.00003
NM_001387263.1(PATL2):c.478C>T (p.Arg160Ter) rs548527219 0.00003
NM_001387263.1(PATL2):c.839G>A (p.Arg280Gln) rs569729547 0.00003
NM_004539.4(NARS1):c.50C>T (p.Thr17Met) rs148893823 0.00003
NM_004551.3(NDUFS3):c.595C>T (p.Arg199Trp) rs104894270 0.00003
NM_005337.5(NCKAP1L):c.1111A>G (p.Met371Val) rs750982844 0.00003
NM_006852.6(TLK2):c.1636C>T (p.Arg546Trp) rs1283838287 0.00003
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met) rs387906991 0.00003
NM_015693.4(INTU):c.1499A>C (p.Glu500Ala) rs1360128571 0.00003
NM_016034.5(MRPS2):c.413G>A (p.Arg138His) rs758539748 0.00003
NM_018646.6(TRPV6):c.1274G>A (p.Arg425Gln) rs1281361203 0.00003
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) rs200649783 0.00003
NM_020944.3(GBA2):c.1888C>T (p.Arg630Trp) rs398123012 0.00003
NM_031448.6(C19orf12):c.-2C>T rs397514477 0.00003
NM_198239.2(CCN6):c.156C>A (p.Cys52Ter) rs121908901 0.00003
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp) rs104894526 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_001042492.3(NF1):c.2294G>A (p.Arg765His) rs199474777 0.00002
NM_001129.5(AEBP1):c.1743C>A (p.Cys581Ter) rs777647845 0.00002
NM_003504.5(CDC45):c.677A>G (p.Asp226Gly) rs754080445 0.00002
NM_003801.4(GPAA1):c.527G>C (p.Trp176Ser) rs782220208 0.00002
NM_005205.4(COX6A2):c.127T>C (p.Cys43Arg) rs1275864234 0.00002
NM_005337.5(NCKAP1L):c.1076C>T (p.Pro359Leu) rs770633648 0.00002
NM_018646.6(TRPV6):c.1352G>A (p.Gly451Glu) rs759393722 0.00002
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg) rs201757275 0.00002
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr) rs773774134 0.00002
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) rs148639841 0.00001
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809 0.00001
NM_000053.4(ATP7B):c.1694A>G (p.Asn565Ser) rs778475094 0.00001
NM_000053.4(ATP7B):c.254G>T (p.Gly85Val) rs786204643 0.00001
NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu) rs79184941 0.00001
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg) rs28936383 0.00001
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro) rs62636298 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg) rs137852871 0.00001
NM_001013838.3(CARMIL2):c.1916T>A (p.Leu639His) rs775061512 0.00001
NM_001020658.2(PUM1):c.3103A>T (p.Thr1035Ser) rs771145682 0.00001
NM_001042646.3(TRAK1):c.986T>C (p.Leu329Pro) rs770281448 0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln) rs150877497 0.00001
NM_001135022.2(ELMOD3):c.512A>G (p.His171Arg) rs1280785617 0.00001
NM_001144869.3(LIPT2):c.314T>G (p.Leu105Arg) rs1190703859 0.00001
NM_001162498.3(LPAR6):c.565G>A (p.Glu189Lys) rs121434309 0.00001
NM_001171155.2(PET100):c.142C>T (p.Gln48Ter) rs587779779 0.00001
NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg) rs753034799 0.00001
NM_001302084.2(TOP6BL):c.1006T>C (p.Ser336Pro) rs1449401018 0.00001
NM_001354483.2(CSGALNACT1):c.1151C>G (p.Pro384Arg) rs746391651 0.00001
NM_001367975.1(BTG4):c.166G>A (p.Ala56Thr) rs1865879702 0.00001
NM_001372106.1(DNAH10):c.13192G>A (p.Gly4398Arg) rs759073156 0.00001
NM_001387263.1(PATL2):c.1108G>A (p.Gly370Arg) rs1397500378 0.00001
NM_001387263.1(PATL2):c.953T>C (p.Ile318Thr) rs1011539285 0.00001
NM_001447.3(FAT2):c.10758G>C (p.Lys3586Asn) rs770597316 0.00001
NM_001447.3(FAT2):c.10946G>A (p.Arg3649Gln) rs201335279 0.00001
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) rs140992482 0.00001
NM_002437.5(MPV17):c.359G>A (p.Trp120Ter) rs121909724 0.00001
NM_003630.3(PEX3):c.991G>A (p.Gly331Arg) rs1057523689 0.00001
NM_003676.4(DEGS1):c.517C>T (p.Arg173Ter) rs932183417 0.00001
NM_004539.4(NARS1):c.1633C>T (p.Arg545Cys) rs770931044 0.00001
NM_004795.4(KL):c.578A>G (p.His193Arg) rs121908423 0.00001
NM_005269.3(GLI1):c.1517T>A (p.Leu506Gln) rs753690500 0.00001
NM_005518.4(HMGCS2):c.1499G>A (p.Arg500His) rs137852639 0.00001
NM_006613.4(GRAP):c.311A>T (p.Gln104Leu) rs370564476 0.00001
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter) rs1558498928 0.00001
NM_007186.6(CEP250):c.3463C>T (p.Arg1155Ter) rs749314857 0.00001
NM_012268.4(PLD3):c.923T>C (p.Leu308Pro) rs537053537 0.00001
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329 0.00001
NM_015231.3(NUP160):c.2305G>A (p.Glu769Lys) rs775637217 0.00001
NM_015231.3(NUP160):c.2626C>T (p.Arg876Ter) rs766361033 0.00001
NM_017646.6(TRIT1):c.856A>G (p.Lys286Glu) rs1060505019 0.00001
NM_017752.3(TBC1D8B):c.738G>C (p.Gln246His) rs761410195 0.00001
NM_018965.4(TREM2):c.132G>A (p.Trp44Ter) rs104894001 0.00001
NM_018965.4(TREM2):c.233G>A (p.Trp78Ter) rs104893998 0.00001
NM_018965.4(TREM2):c.377T>G (p.Val126Gly) rs121908402 0.00001
NM_020374.4(C12orf4):c.1360C>T (p.Arg454Ter) rs749969789 0.00001
NM_020964.3(EPG5):c.1249C>T (p.Arg417Ter) rs961245497 0.00001
NM_020964.3(EPG5):c.136C>T (p.Gln46Ter) rs866435487 0.00001
NM_020964.3(EPG5):c.7333C>T (p.Arg2445Ter) rs780889226 0.00001
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter) rs863225064 0.00001
NM_020964.3(EPG5):c.895C>T (p.Arg299Ter) rs767638289 0.00001
NM_021067.5(GINS1):c.455G>A (p.Cys152Tyr) rs376610445 0.00001
NM_025103.4(IFT74):c.85C>T (p.Arg29Ter) rs751583919 0.00001
NM_033004.4(NLRP1):c.2176C>T (p.Arg726Trp) rs776245016 0.00001
NM_033198.4(PIGS):c.108G>A (p.Trp36Ter) rs1263517814 0.00001
NM_139343.3(BIN1):c.700C>T (p.Arg234Cys) rs777176261 0.00001
NM_144666.3(DNHD1):c.5560C>T (p.Arg1854Cys) rs1035842147 0.00001
NM_144666.3(DNHD1):c.911G>A (p.Arg304Gln) rs369544858 0.00001
NM_152268.4(PARS2):c.836C>T (p.Ser279Leu) rs730882153 0.00001
NM_152513.4(MEI1):c.3452G>A (p.Trp1151Ter) rs749779829 0.00001
NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549 0.00001
NM_153747.2(PIGC):c.635T>C (p.Leu212Pro) rs1553259602 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000090.4(COL3A1):c.3851G>A (p.Gly1284Glu) rs587779528
NM_000125.4(ESR1):c.1181G>A (p.Arg394His) rs1131692059
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000180.4(GUCY2D):c.2798T>C (p.Val933Ala) rs1567961904
NM_000214.3(JAG1):c.701G>A (p.Cys234Tyr) rs121918353
NM_000218.3(KCNQ1):c.1016T>C (p.Phe339Ser) rs199472759
NM_000303.3(PMM2):c.385G>A (p.Val129Met) rs104894525
NM_000335.5(SCN5A):c.844C>T (p.Arg282Cys) rs199473082
NM_000444.6(PHEX):c.1735G>A (p.Gly579Arg) rs875989883
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000527.5(LDLR):c.479G>A (p.Cys160Tyr)
NM_000660.7(TGFB1):c.1159T>C (p.Cys387Arg) rs1336387628
NM_000660.7(TGFB1):c.133C>T (p.Arg45Cys) rs1555755308
NM_000660.7(TGFB1):c.328C>T (p.Arg110Cys) rs1555755242
NM_001001557.4(GDF6):c.1287C>A (p.Ser429Arg) rs1554571225
NM_001005273.3(CHD3):c.3515G>A (p.Arg1172Gln) rs1567861501
NM_001005273.3(CHD3):c.3560G>C (p.Arg1187Pro) rs1567861571
NM_001007228.2(SPOP):c.248A>G (p.Tyr83Cys) rs2072168176
NM_001007228.2(SPOP):c.362G>A (p.Arg121Gln) rs2072157379
NM_001007228.2(SPOP):c.395G>T (p.Gly132Val) rs2072155694
NM_001007228.2(SPOP):c.412C>T (p.Arg138Cys) rs968974699
NM_001007228.2(SPOP):c.430G>A (p.Asp144Asn) rs2072153488
NM_001007228.2(SPOP):c.73A>G (p.Thr25Ala) rs2072244773
NM_001013838.3(CARMIL2):c.1115T>G (p.Leu372Arg) rs1567628757
NM_001013838.3(CARMIL2):c.149G>C (p.Arg50Thr) rs1567626023
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp) rs1557539450
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001037333.3(CYFIP2):c.260G>C (p.Arg87Pro) rs1554108163
NM_001037333.3(CYFIP2):c.260G>T (p.Arg87Leu) rs1554108163
NM_001083619.3(GRIA2):c.1582C>A (p.Pro528Thr) rs1735294501
NM_001083619.3(GRIA2):c.1825G>A (p.Gly609Arg) rs1735303754
NM_001083619.3(GRIA2):c.1831G>A (p.Asp611Asn) rs1553956958
NM_001083619.3(GRIA2):c.1915G>T (p.Ala639Ser) rs1579377564
NM_001083619.3(GRIA2):c.905A>G (p.Asp302Gly) rs1735116193
NM_001100.4(ACTA1):c.215C>G (p.Pro72Arg) rs1659978909
NM_001102564.3(IFT43):c.520T>C (p.Trp174Arg) rs1555369050
NM_001103.4(ACTN2):c.1459T>C (p.Cys487Arg) rs1572140109
NM_001103.4(ACTN2):c.2180T>G (p.Leu727Arg) rs1572148902
NM_001103.4(ACTN2):c.392T>C (p.Leu131Pro) rs1572114611
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001130144.3(LTBP3):c.2087C>G (p.Ser696Cys) rs1554974135
NM_001134232.2(TMEM106B):c.754G>A (p.Asp252Asn) rs1554310600
NM_001135651.3(EIF2AK2):c.1382C>G (p.Ser461Cys) rs1572996700
NM_001135651.3(EIF2AK2):c.31A>C (p.Met11Leu) rs1363544084
NM_001135651.3(EIF2AK2):c.325G>T (p.Ala109Ser) rs1675334390
NM_001135651.3(EIF2AK2):c.388G>A (p.Gly130Arg) rs2148705154
NM_001135651.3(EIF2AK2):c.388G>C (p.Gly130Arg) rs2148705154
NM_001135651.3(EIF2AK2):c.398A>T (p.Tyr133Phe) rs1573029592
NM_001135651.3(EIF2AK2):c.95A>C (p.Asn32Thr) rs1675604381
NM_001135651.3(EIF2AK2):c.95A>G (p.Asn32Ser) rs1675604381
NM_001145026.2(PTPRQ):c.6881G>A (p.Trp2294Ter) rs1555214288
NM_001145304.2(IQCN):c.910C>T (p.Gln304Ter)
NM_001162498.3(LPAR6):c.188A>T (p.Asp63Val) rs879255262
NM_001162498.3(LPAR6):c.436G>A (p.Gly146Arg) rs121434308
NM_001162498.3(LPAR6):c.587C>T (p.Pro196Leu) rs115596308
NM_001164760.2(PRKAR1B):c.586G>A (p.Glu196Lys) rs76344857
NM_001164811.2(PET117):c.172C>T (p.Gln58Ter) rs2037617604
NM_001190737.2(NFIB):c.265C>T (p.Arg89Ter) rs764333096
NM_001190737.2(NFIB):c.376A>G (p.Lys126Glu) rs1554709662
NM_001190737.2(NFIB):c.395T>C (p.Leu132Pro) rs1554709654
NM_001195263.2(PDZD7):c.1500C>A (p.Tyr500Ter) rs953422571
NM_001195263.2(PDZD7):c.197G>T (p.Arg66Leu) rs1426679303
NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg) rs148695069
NM_001195263.2(PDZD7):c.854T>G (p.Met285Arg) rs1554835827
NM_001200.4(BMP2):c.460C>T (p.Arg154Ter) rs1057523275
NM_001204375.2(NPR3):c.1088A>T (p.Asp363Val) rs1741953064
NM_001204375.2(NPR3):c.442T>C (p.Ser148Pro) rs1433125500
NM_001244008.2(KIF1A):c.1048C>G (p.Arg350Gly) rs387907259
NM_001244008.2(KIF1A):c.1894C>T (p.Gln632Ter) rs2050749062
NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu) rs786200949
NM_001244008.2(KIF1A):c.232G>A (p.Gly78Ser) rs1057518760
NM_001244008.2(KIF1A):c.304G>A (p.Gly102Ser) rs1064795534
NM_001244008.2(KIF1A):c.32G>A (p.Arg11Gln) rs1575654528
NM_001244008.2(KIF1A):c.4278C>G (p.Tyr1426Ter) rs572662012
NM_001244008.2(KIF1A):c.500G>A (p.Arg167His) rs2054757914
NM_001244008.2(KIF1A):c.595G>A (p.Gly199Arg) rs1553638614
NM_001244008.2(KIF1A):c.604G>C (p.Ala202Pro) rs672601366
NM_001244008.2(KIF1A):c.647G>A (p.Arg216His) rs672601368
NM_001244008.2(KIF1A):c.647G>C (p.Arg216Pro) rs672601368
NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln) rs886041692
NM_001244008.2(KIF1A):c.773C>T (p.Thr258Met) rs1553638086
NM_001244008.2(KIF1A):c.920G>A (p.Arg307Gln) rs1064793161
NM_001244008.2(KIF1A):c.920G>C (p.Arg307Pro) rs1064793161
NM_001257291.2(SLC9A7):c.1543C>T (p.Leu515Phe) rs1569507511
NM_001318852.2(MAPK8IP3):c.111C>G (p.Tyr37Ter) rs770703007
NM_001318852.2(MAPK8IP3):c.1201G>A (p.Gly401Arg) rs1596711175
NM_001318852.2(MAPK8IP3):c.1334T>C (p.Leu445Pro) rs1567198751
NM_001318852.2(MAPK8IP3):c.1577G>A (p.Arg526Gln) rs1596780112
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys) rs1567203083
NM_001318852.2(MAPK8IP3):c.2985C>G (p.His995Gln) rs1163583945
NM_001318852.2(MAPK8IP3):c.3439C>T (p.Arg1147Cys) rs1567214097
NM_001321380.2(PIK3C2A):c.-75-13528T>G rs1565287817
NM_001321759.2(CDIN1):c.281A>G (p.Tyr94Cys) rs587777101
NM_001321759.2(CDIN1):c.533T>A (p.Leu178Gln) rs587777100
NM_001321967.2(ATAD1):c.162G>C (p.Gln54His) rs1554884979
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001353345.2(SETD1B):c.5653C>T (p.Arg1885Trp) rs1876920040
NM_001353345.2(SETD1B):c.5833T>C (p.Phe1945Leu) rs1877026127
NM_001353812.2(ATP11C):c.1244C>A (p.Thr415Asn) rs1556323334
NM_001354483.2(CSGALNACT1):c.1294G>T (p.Asp432Tyr) rs2054868908
NM_001367975.1(BTG4):c.73C>T (p.Gln25Ter) rs1865886567
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001378974.1(FBXW11):c.1150C>T (p.Arg384Trp) rs1758081729
NM_001378974.1(FBXW11):c.1154C>A (p.Ala385Asp) rs1758081491
NM_001378974.1(FBXW11):c.787G>C (p.Gly263Arg) rs1759346639
NM_001379291.1(BRD4):c.1289A>G (p.Tyr430Cys)
NM_001384910.1(GUCA1A):c.250C>T (p.Leu84Phe) rs869320709
NM_001384910.1(GUCA1A):c.320T>C (p.Ile107Thr) rs869320710
NM_001387263.1(PATL2):c.784C>T (p.Arg262Ter) rs1351320025
NM_001397406.1(FDX2):c.422C>T (p.Pro141Leu) rs888630930
NM_001563.4(IMPG1):c.1736T>C (p.Leu579Pro) rs1782008883
NM_001563.4(IMPG1):c.1838T>C (p.Leu613Pro) rs1781948884
NM_001829.4(CLCN3):c.1709C>T (p.Thr570Ile) rs1732900321
NM_001829.4(CLCN3):c.1820T>C (p.Ile607Thr) rs2150267036
NM_001927.4(DES):c.1064G>C (p.Arg355Pro) rs61368398
NM_001930.4(DHPS):c.912_917del (p.Tyr305_Ile306del) rs1568317152
NM_001982.4(ERBB3):c.2359A>C (p.Thr787Pro) rs2136818517
NM_001982.4(ERBB3):c.2695G>A (p.Val899Met) rs2136822199
NM_002226.5(JAG2):c.221G>C (p.Cys74Ser) rs2141000225
NM_002226.5(JAG2):c.490G>A (p.Glu164Lys) rs1888570315
NM_002226.5(JAG2):c.728C>A (p.Ala243Asp) rs867073471
NM_002430.3(MN1):c.3745G>T (p.Glu1249Ter) rs761317200
NM_002437.5(MPV17):c.107A>C (p.Gln36Pro) rs762327729
NM_002437.5(MPV17):c.70G>T (p.Gly24Trp) rs121909725
NM_002470.4(MYH3):c.1123G>A (p.Glu375Lys) rs121913621
NM_002470.4(MYH3):c.1385A>G (p.Asp462Gly) rs121913622
NM_002470.4(MYH3):c.4031T>C (p.Leu1344Pro) rs1567553806
NM_002470.4(MYH3):c.859T>G (p.Phe287Val) rs1567560080
NM_002470.4(MYH3):c.998C>G (p.Thr333Arg) rs1567559562
NM_002576.5(PAK1):c.1286A>G (p.Tyr429Cys) rs1565583382
NM_002576.5(PAK1):c.392A>G (p.Tyr131Cys) rs1565638316
NM_002715.4(PPP2CA):c.263A>G (p.Asp88Gly) rs1561737008
NM_002715.4(PPP2CA):c.572A>G (p.His191Arg) rs915349596
NM_002715.4(PPP2CA):c.667G>C (p.Asp223His) rs1580636668
NM_002715.4(PPP2CA):c.794A>G (p.Tyr265Cys) rs1561733474
NM_002715.4(PPP2CA):c.922_924dup (p.Phe308dup) rs864622012
NM_003036.4(SKI):c.100G>A (p.Gly34Ser) rs387907306
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003108.4(SOX11):c.139G>A (p.Gly47Ser)
NM_003108.4(SOX11):c.146T>A (p.Ile49Asn)
NM_003108.4(SOX11):c.170T>C (p.Met57Thr) rs2103276340
NM_003108.4(SOX11):c.190C>T (p.Arg64Cys)
NM_003108.4(SOX11):c.226A>G (p.Asn76Asp) rs1665660543
NM_003108.4(SOX11):c.299G>C (p.Arg100Pro) rs1064794628
NM_003108.4(SOX11):c.337T>C (p.Tyr113His)
NM_003108.4(SOX11):c.700G>T (p.Glu234Ter) rs780122780
NM_003108.4(SOX11):c.820A>T (p.Lys274Ter)
NM_003120.3(SPI1):c.632A>C (p.His211Pro) rs2095906547
NM_003301.7(TRHR):c.242C>G (p.Pro81Arg) rs1586182837
NM_003301.7(TRHR):c.343_352delinsA (p.Ser115_Ala118delinsThr) rs1586182912
NM_003380.5(VIM):c.623A>G (p.Gln208Arg) rs1085307141
NM_003504.5(CDC45):c.203A>G (p.Gln68Arg) rs879255633
NM_003504.5(CDC45):c.226A>C (p.Asn76His) rs879255632
NM_003504.5(CDC45):c.893C>T (p.Ala298Val) rs146559223
NM_003672.4(CDC14A):c.934C>G (p.Arg312Gly) rs148737918
NM_003672.4(CDC14A):c.935G>A (p.Arg312Gln) rs369245990
NM_003676.4(DEGS1):c.320G>A (p.Trp107Ter) rs1382083552
NM_003676.4(DEGS1):c.337A>G (p.Asn113Asp) rs1280845604
NM_003676.4(DEGS1):c.395A>G (p.His132Arg) rs1558209997
NM_003676.4(DEGS1):c.565A>G (p.Asn189Asp) rs771864122
NM_003676.4(DEGS1):c.839C>T (p.Ala280Val) rs1558211070
NM_003801.4(GPAA1):c.1165G>C (p.Ala389Pro) rs782768127
NM_003801.4(GPAA1):c.160_161delinsAA (p.Ala54Asn) rs1554763777
NM_003801.4(GPAA1):c.869T>C (p.Leu290Pro) rs1554764058
NM_003801.4(GPAA1):c.872T>C (p.Leu291Pro) rs1010907740
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp) rs1577059692
NM_004147.4(DRG1):c.160G>T (p.Gly54Ter)
NM_004147.4(DRG1):c.418C>T (p.Arg140Ter)
NM_004147.4(DRG1):c.742_743inv (p.Asn248Phe)
NM_004147.4(DRG1):c.787A>T (p.Lys263Ter)
NM_004171.4(SLC1A2):c.866C>G (p.Pro289Arg) rs781379291
NM_004184.4(WARS1):c.1342C>T (p.Arg448Trp)
NM_004184.4(WARS1):c.397C>T (p.Arg133Cys)
NM_004184.4(WARS1):c.770A>G (p.His257Arg) rs770003315
NM_004184.4(WARS1):c.997G>A (p.Ala333Thr)
NM_004218.4(RAB11B):c.202G>A (p.Ala68Thr) rs1555690804
NM_004218.4(RAB11B):c.64G>A (p.Val22Met) rs1555690779
NM_004239.4(TRIP11):c.1228G>T (p.Asp410Tyr) rs1566863801
NM_004239.4(TRIP11):c.4534C>T (p.Gln1512Ter) rs780625551
NM_004239.4(TRIP11):c.5416A>G (p.Met1806Val) rs1566843321
NM_004311.4(ARL3):c.269A>G (p.Tyr90Cys) rs1564730440
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004444.5(EPHB4):c.1990G>A (p.Glu664Lys) rs1562969219
NM_004444.5(EPHB4):c.2405A>G (p.Asp802Gly) rs776410552
NM_004444.5(EPHB4):c.319T>C (p.Cys107Arg) rs1562974383
NM_004444.5(EPHB4):c.802T>C (p.Cys268Arg) rs201816920
NM_004481.5(GALNT2):c.311T>C (p.Phe104Ser) rs1663960324
NM_004481.5(GALNT2):c.629G>C (p.Arg210Pro) rs376870425
NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys) rs587777570
NM_004539.4(NARS1):c.32G>C (p.Arg11Pro) rs771435243
NM_004551.3(NDUFS3):c.434C>T (p.Thr145Ile) rs28939714
NM_004897.5(MINPP1):c.1456G>A (p.Glu486Lys) rs2131848604
NM_004897.5(MINPP1):c.157T>G (p.Tyr53Asp) rs2131792567
NM_005032.7(PLS3):c.1497G>C (p.Trp499Cys)
NM_005032.7(PLS3):c.1774A>G (p.Met592Val)
NM_005032.7(PLS3):c.808G>A (p.Glu270Lys)
NM_005205.4(COX6A2):c.117C>A (p.Ser39Arg) rs1597176845
NM_005267.5(GJA8):c.263C>T (p.Pro88Leu) rs782199122
NM_005337.5(NCKAP1L):c.1555G>C (p.Val519Leu) rs1956961224
NM_005337.5(NCKAP1L):c.773G>T (p.Arg258Leu) rs1956891911
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005611.4(RBL2):c.556C>T (p.Arg186Ter) rs2153138545
NM_005639.3(SYT1):c.1098C>A (p.Asp366Glu) rs1565962725
NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr) rs1135402761
NM_005639.3(SYT1):c.1113C>G (p.Asn371Lys) rs144900171
NM_005639.3(SYT1):c.908T>A (p.Met303Lys) rs1565922388
NM_005639.3(SYT1):c.911A>G (p.Asp304Gly) rs1565922395
NM_005647.4(TBL1X):c.1015C>T (p.Arg339Ter) rs1601844140
NM_005647.4(TBL1X):c.1246A>T (p.Asn416Tyr) rs1601855785
NM_005647.4(TBL1X):c.1510C>T (p.His504Tyr) rs1601857538
NM_005647.4(TBL1X):c.1526A>G (p.Tyr509Cys) rs1601857555
NM_005718.5(ARPC4):c.472C>T (p.Arg158Cys) rs2125650298
NM_005898.5(CAPRIN1):c.1535C>T (p.Pro512Leu)
NM_005956.4(MTHFD1):c.152T>C (p.Leu51Pro) rs1555336810
NM_005956.4(MTHFD1):c.806C>T (p.Thr269Ile) rs1555337681
NM_006088.6(TUBB4B):c.1171C>T (p.Arg391Cys) rs1554786802
NM_006088.6(TUBB4B):c.1172G>A (p.Arg391His) rs1554786803
NM_006390.4(IPO8):c.262G>A (p.Asp88Asn) rs1234764565
NM_006618.5(KDM5B):c.4109T>G (p.Leu1370Ter) rs1558478047
NM_006651.4(CPLX1):c.315C>A (p.Cys105Ter) rs1553851860
NM_006651.4(CPLX1):c.322G>T (p.Glu108Ter) rs1060499735
NM_006660.5(CLPX):c.893G>A (p.Gly298Asp) rs1555412542
NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys) rs199474721
NM_006757.4(TNNT3):c.188G>A (p.Arg63His) rs121434638
NM_006852.6(TLK2):c.1015C>T (p.Arg339Trp) rs1567948262
NM_006852.6(TLK2):c.2092C>T (p.Arg698Ter) rs1555669421
NM_006852.6(TLK2):c.890G>A (p.Gly297Asp) rs1555639254
NM_006888.6(CALM1):c.161A>T (p.Asn54Ile) rs267607276
NM_006888.6(CALM1):c.268T>C (p.Phe90Leu) rs730882253
NM_007118.4(TRIO):c.2302C>T (p.Gln768Ter) rs1554062562
NM_007144.3(PCGF2):c.193C>T (p.Pro65Ser) rs1567941256
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu)
NM_007186.6(CEP250):c.3337A>T (p.Lys1113Ter) rs1568820302
NM_012140.5(SLC25A10):c.304A>T (p.Lys102Ter) rs1555703272
NM_012479.4(YWHAG):c.387C>G (p.Asp129Glu) rs1554616630
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) rs1554616628
NM_012479.4(YWHAG):c.398A>C (p.Tyr133Ser) rs1554616627
NM_012479.4(YWHAG):c.44A>C (p.Glu15Ala) rs1554618767
NM_014003.4(DHX38):c.971G>A (p.Arg324Gln) rs766053952
NM_014003.4(DHX38):c.995G>A (p.Gly332Asp) rs587777554
NM_014055.4(IFT81):c.1300CTT[1] (p.Leu435del) rs1555266475
NM_014055.4(IFT81):c.785T>G (p.Leu262Ter) rs576969206
NM_014165.4(NDUFAF4):c.7G>C (p.Ala3Pro) rs1554197721
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014727.3(KMT2B):c.1633C>T (p.Arg545Ter) rs1057519279
NM_014727.3(KMT2B):c.1690C>T (p.Arg564Ter) rs1057519283
NM_014727.3(KMT2B):c.2428C>T (p.Gln810Ter) rs1057519281
NM_014727.3(KMT2B):c.4545C>A (p.Tyr1515Ter) rs1057519284
NM_014727.3(KMT2B):c.5114G>A (p.Arg1705Gln) rs1555731980
NM_014727.3(KMT2B):c.7549C>T (p.Arg2517Trp) rs1057519285
NM_014874.4(MFN2):c.491C>T (p.Ala164Val) rs1553142699
NM_014946.4(SPAST):c.1676G>A (p.Gly559Asp) rs864622179
NM_015178.3(RHOBTB2):c.1355C>G (p.Ala452Gly) rs1554504656
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His) rs1554504663
NM_015178.3(RHOBTB2):c.1453C>T (p.Arg485Cys) rs1563292586
NM_015178.3(RHOBTB2):c.1462A>G (p.Asn488Asp) rs1554504678
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp) rs1554504681
NM_015213.4(DENND5A):c.1622A>G (p.Asp541Gly) rs1057519309
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys)
NM_015278.5(SASH1):c.1519T>G (p.Ser507Ala) rs1562489143
NM_015278.5(SASH1):c.1525G>A (p.Glu509Lys) rs1562489156
NM_015278.5(SASH1):c.1537A>C (p.Ser513Arg) rs1237876014
NM_015278.5(SASH1):c.1544T>C (p.Leu515Pro) rs1562489224
NM_015278.5(SASH1):c.1556G>A (p.Ser519Asn) rs1562489240
NM_015278.5(SASH1):c.1651T>C (p.Tyr551His) rs1562490566
NM_015278.5(SASH1):c.1651T>G (p.Tyr551Asp) rs1562490566
NM_015278.5(SASH1):c.1784T>C (p.Met595Thr) rs1562491501
NM_015693.4(INTU):c.1063G>T (p.Glu355Ter) rs1037828930
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_016038.4(SBDS):c.24C>A (p.Asn8Lys) rs28942099
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_016188.5(ACTL6B):c.1045G>A (p.Gly349Ser) rs955171017
NM_016188.5(ACTL6B):c.230A>G (p.Asp77Gly) rs1562851259
NM_016188.5(ACTL6B):c.435CTT[2] (p.Phe147del) rs772520618
NM_016188.5(ACTL6B):c.617T>C (p.Leu206Pro) rs1562848909
NM_016188.5(ACTL6B):c.724C>T (p.Gln242Ter) rs1562848568
NM_016188.5(ACTL6B):c.820C>T (p.Gln274Ter) rs1562848425
NM_016306.6(DNAJB11):c.161C>G (p.Pro54Arg) rs1553849919
NM_016306.6(DNAJB11):c.230T>C (p.Leu77Pro) rs1553850185
NM_017635.5(KMT5B):c.559C>T (p.Arg187Ter) rs114727354
NM_017635.5(KMT5B):c.791G>C (p.Trp264Ser) rs1555028104
NM_017646.6(TRIT1):c.1204C>T (p.Arg402Ter) rs367752391
NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter) rs184469579
NM_017649.5(CNNM2):c.806C>G (p.Ser269Trp) rs794726858
NM_017752.3(TBC1D8B):c.872T>C (p.Phe291Ser) rs1602413491
NM_017951.5(SMPD4):c.82C>T (p.Gln28Ter) rs1573728266
NM_018230.3(NUP133):c.2922T>G (p.Ser974Arg) rs1558091788
NM_018230.3(NUP133):c.691C>G (p.Arg231Gly) rs1558108130
NM_018965.4(TREM2):c.401A>G (p.Asp134Gly) rs28939079
NM_018965.4(TREM2):c.558G>T (p.Lys186Asn) rs28937876
NM_020158.4(EXOSC5):c.302C>A (p.Thr101Lys) rs777418116
NM_020401.4(NUP107):c.2666A>G (p.Tyr889Cys) rs1565707103
NM_020702.5(MYORG):c.1057GAC[1] (p.Asp354del) rs1180204613
NM_020702.5(MYORG):c.1086CTTCGA[1] (p.363FD[1]) rs1398218251
NM_020702.5(MYORG):c.1321C>G (p.Arg441Gly) rs749427106
NM_020702.5(MYORG):c.1333C>T (p.Gln445Ter) rs1563981743
NM_020702.5(MYORG):c.337_348dup (p.Leu113_Arg116dup) rs775762093
NM_020702.5(MYORG):c.607C>T (p.Gln203Ter) rs1563982489
NM_020702.5(MYORG):c.695C>T (p.Ser232Leu) rs757434146
NM_020702.5(MYORG):c.782_783delinsTT (p.Arg261Leu) rs1563982307
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_020944.3(GBA2):c.1780G>C (p.Asp594His) rs398123064
NM_020944.3(GBA2):c.2618G>A (p.Arg873His) rs398123015
NM_020964.3(EPG5):c.4007G>A (p.Gly1336Glu) rs1085308061
NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter) rs1568133760
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter) rs1568107449
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) rs121908453
NM_023936.2(MRPS34):c.37G>A (p.Glu13Lys) rs1131692037
NM_024057.4(NUP37):c.916C>T (p.Arg306Ter) rs746341112
NM_024408.4(NOTCH2):c.6853C>T (p.Gln2285Ter) rs1553193507
NM_024593.4(CLXN):c.292C>T (p.Arg98Ter)
NM_024593.4(CLXN):c.367G>T (p.Glu123Ter)
NM_024678.6(NARS2):c.1142A>G (p.Asn381Ser) rs1565216037
NM_024678.6(NARS2):c.637G>T (p.Val213Phe) rs756725793
NM_024678.6(NARS2):c.969T>A (p.Tyr323Ter) rs565224393
NM_024844.5(NUP85):c.1430C>T (p.Ala477Val) rs1568094661
NM_024844.5(NUP85):c.1741G>C (p.Ala581Pro) rs1321552081
NM_025103.4(IFT74):c.853G>T (p.Glu285Ter) rs1056125920
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032861.4(SERAC1):c.1577G>A (p.Gly526Glu) rs1554261079
NM_033198.4(PIGS):c.101T>C (p.Leu34Pro) rs1567618413
NM_033198.4(PIGS):c.923A>G (p.Glu308Gly) rs1426262136
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn) rs121908638
NM_079420.3(MYL1):c.488T>G (p.Met163Arg) rs1259220084
NM_133181.4(EPS8L3):c.22G>A (p.Ala8Thr) rs1650987435
NM_138638.5(CFL2):c.19G>A (p.Val7Met) rs397515451
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu) rs777183511
NM_139343.3(BIN1):c.1723A>T (p.Lys575Ter) rs121909275
NM_139343.3(BIN1):c.433C>T (p.Arg145Cys) rs1249621033
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln) rs267606681
NM_144666.3(DNHD1):c.6498T>G (p.Tyr2166Ter) rs61729699
NM_148923.4(CYB5A):c.131A>T (p.His44Leu) rs1555688659
NM_148923.4(CYB5A):c.81G>A (p.Trp27Ter) rs1555691399
NM_152268.4(PARS2):c.239T>C (p.Ile80Thr) rs1246773873
NM_152268.4(PARS2):c.604C>G (p.Arg202Gly) rs141760650
NM_152268.4(PARS2):c.607G>A (p.Glu203Lys) rs1557762729
NM_152641.4(ARID2):c.1028T>A (p.Leu343Ter) rs796052242
NM_152641.4(ARID2):c.4318C>T (p.Gln1440Ter) rs772995852
NM_152713.5(STT3A):c.1214G>A (p.Arg405His) rs780062429
NM_152713.5(STT3A):c.137A>G (p.His46Arg) rs2135904246
NM_152713.5(STT3A):c.1589A>C (p.Tyr530Ser) rs2135940602
NM_152713.5(STT3A):c.1637C>T (p.Thr546Ile) rs2135940683
NM_152713.5(STT3A):c.479G>A (p.Arg160Gln) rs2135921186
NM_152713.5(STT3A):c.985C>T (p.Arg329Cys) rs2135932096
NM_153332.4(ERI1):c.352A>T (p.Lys118Ter)
NM_153332.4(ERI1):c.401A>G (p.Asp134Gly)
NM_153332.4(ERI1):c.450A>T (p.Glu150Asp)
NM_153332.4(ERI1):c.464C>T (p.Pro155Leu)
NM_153332.4(ERI1):c.62C>A (p.Ser21Ter)
NM_153332.4(ERI1):c.893A>G (p.Asp298Gly)
NM_153332.4(ERI1):c.895T>C (p.Ser299Pro)
NM_153704.6(TMEM67):c.245C>G (p.Pro82Arg) rs772437766
NM_153747.2(PIGC):c.566T>G (p.Leu189Trp) rs1553259614
NM_170606.3(KMT2C):c.1690A>T (p.Lys564Ter) rs1554580083
NM_170606.3(KMT2C):c.4441C>T (p.Arg1481Ter) rs587777073
NM_170606.3(KMT2C):c.7550C>G (p.Ser2517Ter) rs779659766
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_173628.4(DNAH17):c.[10496C>T;10784T>C]
NM_177924.5(ASAH1):c.107A>G (p.Tyr36Cys) rs137853595
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp) rs864321624
NM_194436.3(LDHD):c.1053G>T (p.Trp351Cys) rs1567502487
NM_198239.2(CCN6):c.1010G>A (p.Cys337Tyr) rs781986930
NM_201589.4(MAFA):c.191C>T (p.Ser64Phe) rs1554635488
NM_212482.4(FN1):c.260G>T (p.Cys87Phe) rs1553669703
NM_212482.4(FN1):c.367T>C (p.Cys123Arg) rs1553667072
NM_212482.4(FN1):c.675C>G (p.Cys225Trp) rs1181638652
NM_212482.4(FN1):c.718T>G (p.Tyr240Asp) rs1553659131

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