ClinVar Miner

Variants from Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia: Collection method of the submission from Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia:
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
755 457 8 379 318 8 53 701

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
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia pathogenic likely pathogenic uncertain significance likely benign benign association drug response pathogenic, low penetrance risk factor
pathogenic 1 53 6 0 0 0 0 1 3
likely pathogenic 19 0 6 1 0 0 0 0 1
uncertain significance 14 24 0 214 124 0 0 0 1
likely benign 2 2 29 0 110 0 0 0 0
benign 2 2 38 199 7 1 1 0 0

Submitter to submitter summary #

Total submitters: 129
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
Invitae 0 258 0 70 122 1 8 201
GeneDx 0 241 0 74 83 0 13 170
CeGaT Center for Human Genetics Tuebingen 0 122 0 72 78 0 3 153
PreventionGenetics, part of Exact Sciences 0 133 0 61 77 0 0 138
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 18 0 61 12 0 0 73
Genetic Services Laboratory, University of Chicago 0 80 0 39 20 1 2 62
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 112 0 25 31 0 5 61
Eurofins Ntd Llc (ga) 0 142 0 31 23 0 1 55
Illumina Laboratory Services, Illumina 0 51 0 24 24 0 4 51
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 61 0 30 21 0 0 51
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 62 0 25 19 0 2 46
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 45 0 32 9 0 0 41
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 28 0 31 10 0 0 41
Myriad Genetics, Inc. 0 63 0 14 3 0 6 23
Athena Diagnostics Inc 0 61 0 10 12 0 0 22
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 52 0 9 12 0 1 22
Clinical Genetics, Academic Medical Center 0 36 0 15 7 0 0 22
Color Diagnostics, LLC DBA Color Health 0 26 0 8 13 0 1 22
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 23 0 17 4 0 0 21
Mendelics 0 16 0 5 10 0 5 20
OMIM 0 65 0 6 1 5 6 18
Ambry Genetics 0 42 0 6 9 0 0 15
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 36 0 7 8 0 0 15
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State 0 5 0 10 5 0 0 15
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 5 0 3 9 0 1 13
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 15 0 7 6 0 0 13
Quest Diagnostics Nichols Institute San Juan Capistrano 0 13 0 3 8 0 0 11
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 0 5 2 4 0 0 11
Genome-Nilou Lab 0 18 0 2 7 0 2 11
Department of Pathology and Laboratory Medicine, Sinai Health System 0 6 0 3 7 0 0 10
All of Us Research Program, National Institutes of Health 0 31 0 4 6 0 0 10
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 8 2 2 5 0 0 9
Mayo Clinic Laboratories, Mayo Clinic 0 21 0 5 4 0 0 9
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 9 0 0 6 0 3 9
Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge 0 3 0 3 5 0 0 8
Robarts Research Institute, Western University 0 5 0 3 5 0 0 8
Counsyl 0 24 0 6 1 0 0 7
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 3 0 3 0 0 4 7
Clinical Genomics Labs, University Health Network 0 13 0 5 0 0 2 7
Natera, Inc. 0 36 0 2 3 0 1 6
Fulgent Genetics, Fulgent Genetics 0 10 0 3 3 0 0 6
CSER _CC_NCGL, University of Washington 0 7 0 2 4 0 0 6
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 13 0 1 4 0 1 6
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. 0 4 0 2 4 0 0 6
Genetics Program, Instituto Nacional de Cancer 0 11 0 5 1 0 0 6
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 5 0 3 2 0 0 5
MGZ Medical Genetics Center 0 16 0 1 0 0 4 5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 12 0 1 1 0 3 5
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 1 0 3 1 0 0 4
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 3 0 3 1 0 0 4
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 8 0 1 1 0 1 3
Revvity Omics, Revvity 0 29 0 1 2 0 0 3
LDLR-LOVD, British Heart Foundation 0 3 0 1 2 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 3 0 0 0 3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 2 0 3 0 0 0 3
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 1 0 0 1 0 2 3
Institute of Human Genetics, University of Leipzig Medical Center 0 12 0 1 0 0 2 3
Fundacion Hipercolesterolemia Familiar 0 1 0 1 2 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 11 0 1 0 0 2 3
Division of Respiratory Medicine of Juntendo University, Juntendo University Faculty of Medicine and Graduate School of Medicine 0 9 0 2 0 0 1 3
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 2 0 2 1 0 0 3
Molecular Genetics, Royal Melbourne Hospital 0 3 0 0 0 0 3 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 12 0 1 0 0 2 3
Cohesion Phenomics 0 1 0 2 1 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 1909 2 0 2 0 0 0 2
Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 0 0 0 1 0 1 2
Center for Medical Genetics Ghent, University of Ghent 0 1 0 0 2 0 0 2
Institute for Integrative and Experimental Genomics, University of Luebeck 0 0 0 1 0 0 1 2
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 0 0 1 1 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 2 0 0 0 0 2 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 10 0 1 0 0 1 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 1 0 0 1 2
Clinical Genetics, Erasmus University Medical Center 0 0 0 0 2 0 0 2
Cardiovascular Biomarker Research Laboratory, Mayo Clinic 0 3 0 1 1 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 0 0 1 0 0 1 2
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 1 0 1 1 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 8 0 0 2 0 0 2
Genetics and Molecular Pathology, SA Pathology 0 6 0 2 0 0 0 2
Yale Center for Mendelian Genomics, Yale University 0 0 0 2 0 0 0 2
Iberoamerican FH Network 0 1 0 0 2 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 5 0 2 0 0 0 2
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City 0 1 0 1 0 0 1 2
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 3 0 0 1 0 1 2
Wessex Regional Genetics Laboratory, Salisbury District Hospital 0 7 0 0 0 0 2 2
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital 0 5 0 1 0 0 1 2
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 9 0 1 1 0 0 2
3billion 0 14 0 1 0 0 1 2
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 9 0 2 0 0 0 2
Integrating Genomics into Medicine, Frazer Institute, University Of Queensland 0 11 0 0 0 0 2 2
Baylor Genetics 0 26 0 0 0 0 1 1
Molecular Otolaryngology and Renal Research Laboratories, University of Iowa Hospital and Clinics 0 0 0 0 0 0 1 1
Molecular Diagnostics Lab, Nemours Children's Health, Delaware 0 1 0 0 0 0 1 1
Centogene AG - the Rare Disease Company 0 3 0 0 0 0 1 1
GeneReviews 0 31 1 0 0 0 0 1
Blueprint Genetics 0 1 0 1 0 0 0 1
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München 0 7 0 1 0 0 0 1
RettBASE 0 7 0 0 1 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 5 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 1 0 0 0 0 1 1
Department of Medical Genetics, Oslo University Hospital 0 7 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 3 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 2 0 0 0 0 1 1
Database of Curated Mutations (DoCM) 0 0 0 1 0 0 0 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 1 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 6 0 1 0 0 0 1
Leiden Open Variation Database 0 2 0 0 1 0 0 1
CIViC knowledgebase, Washington University School of Medicine 0 2 0 1 0 0 0 1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill 0 2 0 0 0 0 1 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 6 0 0 1 0 0 1
Clingen PTEN Variant Curation Expert Panel, Clingen 0 0 0 0 1 0 0 1
Bruce Budowle Laboratory, University of North Texas Health Science Center 0 0 0 0 0 1 0 1
Cavalleri Lab, Royal College of Surgeons in Ireland 0 1 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 2 0 0 1 0 0 1
University of Iowa Renal Genetics Clinic, University of Iowa 0 0 0 0 0 0 1 1
ClinGen TP53 Variant Curation Expert Panel, ClinGen 0 0 0 0 1 0 0 1
New York Genome Center 0 3 0 1 0 0 0 1
Pars Genome Lab 0 2 0 1 0 0 0 1
Lifecell International Pvt. Ltd 0 3 0 0 0 0 1 1
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 1 0 0 0 0 1 1
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 3 0 0 1 0 0 1
Bioinformatics Unit, Institut Pasteur de Montevideo 0 0 0 1 0 0 0 1
DASA 0 3 0 0 0 0 1 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 0 0 0 0 0 1 1
Genomics England Pilot Project, Genomics England 0 1 0 0 0 0 1 1
Department of Pharmacy, The First Affiliated Hospital of Zhengzhou University 0 0 0 0 0 0 1 1
ClinGen FBN1 Variant Curation Expert Panel, ClinGen 0 1 0 0 1 0 0 1
Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS) 0 2 0 1 0 0 0 1
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) 0 4 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 701
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4]) rs398124622 0.06994
NM_020066.5(FMN2):c.2897T>C (p.Leu966Pro) rs200975594 0.04768
NM_020975.6(RET):c.2508C>T (p.Ser836=) rs1800862 0.03791
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) rs2066844 0.02936
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149 0.02935
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_001368894.2(PAX6):c.-129+9G>A rs56139994 0.02711
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_006030.4(CACNA2D2):c.160C>T (p.Leu54Phe) rs569543350 0.02637
NM_001348946.2(ABCB1):c.1199G>A (p.Ser400Asn) rs2229109 0.02618
NM_022455.5(NSD1):c.3106G>C (p.Ala1036Pro) rs28932179 0.02602
NM_001372044.2(SHANK3):c.2386G>A (p.Ala796Thr) rs61729471 0.02583
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818 0.02573
NM_001323289.2(CDKL5):c.555-19C>G rs75057928 0.02527
NM_004525.3(LRP2):c.2006G>A (p.Gly669Asp) rs34291900 0.02496
NM_003482.4(KMT2D):c.12028T>C (p.Ser4010Pro) rs80132640 0.02449
NM_003482.4(KMT2D):c.248G>A (p.Arg83Gln) rs55865069 0.02422
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_000660.7(TGFB1):c.788C>T (p.Thr263Ile) rs1800472 0.02287
NM_001204.7(BMPR2):c.2324G>A (p.Ser775Asn) rs2228545 0.02286
NM_006610.4(MASP2):c.359A>G (p.Asp120Gly) rs72550870 0.02284
NM_000092.5(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949 0.02275
NM_024079.5(ALG8):c.1316T>C (p.Ile439Thr) rs17825668 0.02180
NM_017637.6(BNC2):c.2768C>T (p.Ala923Val) rs117452684 0.01981
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
NM_001365951.3(KIF1B):c.2115+6360G>T rs41274458 0.01961
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_022455.5(NSD1):c.2071G>A (p.Ala691Thr) rs28932177 0.01809
NM_017757.3(ZNF407):c.181A>G (p.Ser61Gly) rs75994611 0.01776
NM_015937.6(PIGT):c.770A>C (p.Asp257Ala) rs61753669 0.01749
NM_000083.3(CLCN1):c.2284+5C>T rs74824159 0.01735
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) rs4987188 0.01714
NM_153240.5(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382 0.01709
NM_004366.6(CLCN2):c.2154G>C (p.Glu718Asp) rs2228292 0.01679
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324 0.01651
NM_020937.4(FANCM):c.4799C>T (p.Thr1600Ile) rs61746943 0.01614
NM_004366.6(CLCN2):c.2063G>A (p.Arg688Gln) rs111656822 0.01603
NM_000540.3(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920 0.01583
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_020987.5(ANK3):c.8988G>C (p.Gln2996His) rs41274672 0.01542
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp) rs80356570 0.01518
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_024079.5(ALG8):c.803G>A (p.Arg268Gln) rs61995925 0.01476
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_000426.4(LAMA2):c.1798G>A (p.Gly600Arg) rs36044314 0.01250
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_000303.3(PMM2):c.324G>A (p.Ala108=) rs62031146 0.01239
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01228
NM_000238.4(KCNH2):c.1332G>A (p.Glu444=) rs9770044 0.01204
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691 0.01184
NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu) rs115857753 0.01168
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01150
NM_001367561.1(DOCK7):c.1460A>G (p.Lys487Arg) rs72913293 0.01118
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln) rs115466046 0.01096
NM_130797.4(DPP6):c.227A>T (p.Asp76Val) rs572667303 0.01073
NM_000717.5(CA4):c.700G>A (p.Val234Ile) rs117704637 0.01071
NM_017866.6(TMEM70):c.580G>A (p.Val194Met) rs77410280 0.01045
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827 0.01025
NM_002968.3(SALL1):c.3872A>G (p.Asn1291Ser) rs74499562 0.01024
NM_001005242.3(PKP2):c.791C>T (p.Ala264Val) rs62001016 0.01013
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe) rs140118273 0.00997
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_000204.5(CFI):c.1534+5G>T rs114013791 0.00951
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) rs200988634 0.00927
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_000249.4(MLH1):c.1959G>T (p.Leu653=) rs1800146 0.00913
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_000169.2(GLA):c.-30G>A rs3027584 0.00873
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823 0.00861
NM_144672.4(OTOA):c.2353A>C (p.Thr785Pro) rs464696 0.00839
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317 0.00818
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596 0.00808
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331 0.00792
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00792
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879 0.00790
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_003268.6(TLR5):c.1930A>T (p.Ile644Phe) rs5744175 0.00776
NM_001386298.1(CIC):c.7510T>C (p.Ser2504Pro) rs745695673 0.00775
NM_003268.6(TLR5):c.2537A>G (p.Asp846Gly) rs5744177 0.00773
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366 0.00773
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874 0.00761
NM_153766.3(KCNJ1):c.1013T>C (p.Met338Thr) rs59172778 0.00742
NM_080759.6(DACH1):c.1722+6C>T rs192675802 0.00741
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_003268.6(TLR5):c.1459C>A (p.Leu487Ile) rs5744171 0.00712
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_015466.4(PTPN23):c.3388G>A (p.Gly1130Ser) rs138329311 0.00677
NM_181078.3(IL21R):c.824G>A (p.Arg275Gln) rs52822694 0.00673
NM_000876.4(IGF2R):c.6657C>T (p.Asp2219=) rs8191933 0.00667
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr) rs111991705 0.00667
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954 0.00654
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_017662.5(TRPM6):c.4988A>G (p.Gln1663Arg) rs55679040 0.00650
NM_018714.3(COG1):c.1049C>T (p.Thr350Met) rs117344829 0.00650
NM_006302.3(MOGS):c.1838G>A (p.Arg613Gln) rs142032474 0.00643
NM_000238.4(KCNH2):c.1558-5C>T rs114186001 0.00642
NM_001508.3(GPR39):c.1132G>A (p.Ala378Thr) rs61735719 0.00640
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_001080779.2(MYO1C):c.2574A>C (p.Lys858Asn) rs61753652 0.00630
NM_015937.6(PIGT):c.367G>T (p.Val123Leu) rs141420243 0.00626
NM_000321.3(RB1):c.1574C>G (p.Ala525Gly) rs4151539 0.00623
NM_015967.8(PTPN22):c.2250G>C (p.Lys750Asn) rs56048322 0.00600
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_022725.4(FANCF):c.557C>T (p.Ala186Val) rs113910234 0.00595
NM_001080510.5(METTL23):c.496G>A (p.Asp166Asn) rs138247613 0.00593
NM_000540.3(RYR1):c.4894C>T (p.Pro1632Ser) rs76537615 0.00586
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028 0.00578
NM_017780.4(CHD7):c.5051-4C>T rs71640288 0.00577
NM_024753.5(TTC21B):c.2322+3A>G rs79037278 0.00575
NM_001358921.2(COQ2):c.194A>C (p.Asp65Ala) rs375934957 0.00574
NM_001270508.2(TNFAIP3):c.374C>T (p.Ala125Val) rs5029941 0.00569
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 0.00569
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_153252.5(BRWD3):c.2325+5G>A rs186391561 0.00565
NM_000885.6(ITGA4):c.2471T>C (p.Val824Ala) rs1143675 0.00556
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=) rs41311573 0.00548
NM_002361.4(MAG):c.47-4G>T rs147119099 0.00546
NM_015631.6(TCTN3):c.630T>C (p.Ala210=) rs41299157 0.00543
NM_001112.4(ADARB1):c.1582A>G (p.Ile528Val) rs146201109 0.00533
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_015662.3(IFT172):c.3401G>T (p.Arg1134Leu) rs148624326 0.00526
NM_016373.4(WWOX):c.358C>T (p.Arg120Trp) rs141361080 0.00523
NM_006922.4(SCN3A):c.3250G>A (p.Val1084Ile) rs140990288 0.00518
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890 0.00513
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met) rs41298747 0.00512
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_005379.4(MYO1A):c.2390C>T (p.Ser797Phe) rs113470661 0.00506
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831 0.00505
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525 0.00505
NM_001276270.2(MBD4):c.1684G>C (p.Asp562His) rs2307293 0.00496
NM_013314.4(BLNK):c.472G>T (p.Ala158Ser) rs148612299 0.00489
NM_194318.4(B3GLCT):c.733G>A (p.Val245Met) rs34830061 0.00488
NM_001039141.3(TRIOBP):c.6736G>A (p.Glu2246Lys) rs138139146 0.00483
NM_005121.3(MED13):c.4642A>G (p.Ser1548Gly) rs140673828 0.00476
NM_000100.4(CSTB):c.67-3T>C rs6383 0.00473
NM_004398.4(DDX10):c.1334A>G (p.Glu445Gly) rs116953461 0.00472
NM_003923.3(FOXH1):c.338G>C (p.Ser113Thr) rs144830740 0.00471
NM_001145809.2(MYH14):c.2792G>A (p.Arg931His) rs200351672 0.00460
NM_020987.5(ANK3):c.7225T>C (p.Ser2409Pro) rs148904927 0.00459
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140 0.00457
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu) rs75029862 0.00451
NM_004327.4(BCR):c.2845G>A (p.Val949Ile) rs2229038 0.00451
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_002160.4(TNC):c.1342C>G (p.Arg448Gly) rs145086096 0.00442
NM_000059.4(BRCA2):c.7008-62A>G rs76584943 0.00439
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=) rs113115949 0.00435
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_000914.5(OPRM1):c.440C>G (p.Ser147Cys) rs17174794 0.00425
NM_004999.4(MYO6):c.3824A>G (p.Tyr1275Cys) rs146461956 0.00424
NM_006982.3(ALX1):c.191G>T (p.Arg64Leu) rs115596276 0.00412
NM_001291303.3(FAT4):c.10853C>T (p.Thr3618Met) rs111423173 0.00407
NM_000383.4(AIRE):c.595G>A (p.Val199Ile) rs74162061 0.00404
NM_033100.4(CDHR1):c.1868A>G (p.Asn623Ser) rs137876961 0.00404
NM_004531.5(MOCS2):c.367C>T (p.His123Tyr) rs2233218 0.00399
NM_018714.3(COG1):c.1712G>A (p.Arg571Gln) rs141750466 0.00398
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_018389.5(SLC35C1):c.1054C>T (p.Pro352Ser) rs145613857 0.00391
NM_022134.3(GAL3ST2):c.29+1G>A rs78620448 0.00390
NM_002490.6(NDUFA6):c.322C>T (p.His108Tyr) rs113437301 0.00381
NM_015335.5(MED13L):c.3512A>G (p.Lys1171Arg) rs147863200 0.00377
NM_001190417.2(ZNF674):c.586C>T (p.Arg196Ter) rs182004761 0.00376
NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His) rs41313282 0.00375
NM_005430.4(WNT1):c.264T>A (p.Ser88Arg) rs61758378 0.00373
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00362
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909 0.00359
NM_014008.5(CCDC22):c.1636G>A (p.Asp546Asn) rs147222955 0.00356
NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287 0.00356
NM_000101.4(CYBA):c.179A>C (p.Lys60Thr) rs11547387 0.00354
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser) rs34084984 0.00352
NM_006506.5(RASA2):c.17C>T (p.Pro6Leu) rs201352230 0.00349
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468 0.00348
NM_001561.6(TNFRSF9):c.166G>A (p.Ala56Thr) rs9657963 0.00332
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300 0.00328
NM_001378609.3(OTOGL):c.929G>A (p.Gly310Glu) rs186616540 0.00327
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_148923.4(CYB5A):c.13T>G (p.Ser5Ala) rs75160992 0.00321
NM_001145026.2(PTPRQ):c.202G>A (p.Gly68Arg) rs61729303 0.00318
NM_001348800.3(ZBTB20):c.1164C>G (p.Asp388Glu) rs144663365 0.00317
NM_024611.6(ICE2):c.416A>G (p.Lys139Arg) rs141469235 0.00315
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) rs142476821 0.00312
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285 0.00306
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln) rs141246107 0.00299
NM_000369.5(TSHR):c.881+3A>G rs186091357 0.00298
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005 0.00295
NM_001844.5(COL2A1):c.1433C>T (p.Pro478Leu) rs201823490 0.00294
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584 0.00291
NM_001199862.2(KCNAB2):c.1183A>G (p.Ile395Val) rs146277144 0.00285
NM_012213.3(MLYCD):c.206C>T (p.Ala69Val) rs200579941 0.00284
NM_198576.4(AGRN):c.4639G>A (p.Glu1547Lys) rs2799068 0.00284
NM_006506.5(RASA2):c.1603A>G (p.Ile535Val) rs143035190 0.00283
NM_001203.3(BMPR1B):c.418G>A (p.Val140Ile) rs138801821 0.00280
NM_004525.3(LRP2):c.92C>T (p.Ala31Val) rs144829356 0.00280
NM_194293.4(XIRP1):c.3763C>T (p.Pro1255Ser) rs151275736 0.00280
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126 0.00278
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593 0.00278
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_001365088.1(SLC12A6):c.271+17825C>T rs150751809 0.00276
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_152641.4(ARID2):c.1718C>T (p.Thr573Met) rs76994389 0.00270
NM_015909.4(NBAS):c.4822A>G (p.Met1608Val) rs140868609 0.00268
NM_194248.3(OTOF):c.2215-80T>C rs143141993 0.00268
NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu) rs72653095 0.00267
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln) rs142647321 0.00251
NM_000064.4(C3):c.463A>C (p.Lys155Gln) rs147859257 0.00250
NM_001040616.3(LINS1):c.1813A>G (p.Met605Val) rs141855950 0.00249
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832 0.00249
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00247
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_001292063.2(OTOG):c.7867G>A (p.Asp2623Asn) rs183470913 0.00242
NM_020800.3(IFT80):c.1864G>A (p.Ala622Thr) rs138161346 0.00241
NM_004999.4(MYO6):c.1224-4A>G rs144031818 0.00238
NM_001282531.3(ADNP):c.2743G>A (p.Val915Ile) rs150900514 0.00236
NM_152617.4(RNF168):c.508G>A (p.Glu170Lys) rs114025031 0.00235
NM_002291.3(LAMB1):c.476C>G (p.Thr159Ser) rs140146478 0.00233
NM_170606.3(KMT2C):c.2016A>T (p.Glu672Asp) rs114419085 0.00230
NM_033109.5(PNPT1):c.122G>C (p.Ser41Thr) rs140796438 0.00229
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704 0.00228
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg) rs74315416 0.00220
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_001143820.2(ETS1):c.617A>G (p.Tyr206Cys) rs142279599 0.00219
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser) rs140666848 0.00218
NM_002472.3(MYH8):c.2147T>A (p.Ile716Asn) rs115483891 0.00218
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_015937.6(PIGT):c.1067G>A (p.Arg356Gln) rs139366969 0.00215
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys) rs142429411 0.00214
NM_033026.6(PCLO):c.2066C>T (p.Ala689Val) rs200359990 0.00214
NM_006005.3(WFS1):c.712+16G>A rs71524367 0.00213
NM_001292063.2(OTOG):c.7009G>C (p.Val2337Leu) rs540794663 0.00210
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) rs78592085 0.00208
NM_001292063.2(OTOG):c.8476C>T (p.Arg2826Cys) rs191662816 0.00208
NM_004667.6(HERC2):c.2389A>G (p.Met797Val) rs150930758 0.00206
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836 0.00206
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala) rs141893001 0.00203
NM_001035.3(RYR2):c.10324-4A>G rs72751287 0.00203
NM_004525.3(LRP2):c.13685T>C (p.Val4562Ala) rs142245618 0.00201
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00191
NM_001372078.1(REV3L):c.3979A>G (p.Ile1327Val) rs55717383 0.00191
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00190
NM_000466.3(PEX1):c.3810T>A (p.Ser1270Arg) rs139054881 0.00188
NM_001277115.2(DNAH11):c.58C>A (p.Arg20Ser) rs72655967 0.00188
NM_003052.5(SLC34A1):c.284G>A (p.Arg95His) rs145798898 0.00188
NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile) rs149881695 0.00187
NM_139285.4(GAS2L2):c.1621G>A (p.Val541Ile) rs145313062 0.00182
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys) rs138731505 0.00180
NM_001301202.2(RASAL1):c.1807T>C (p.Phe603Leu) rs142556970 0.00180
NM_001161352.2(KCNMA1):c.413C>T (p.Ala138Val) rs144215383 0.00178
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln) rs112185887 0.00176
NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val) rs59190330 0.00174
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_002296.4(LBR):c.866G>A (p.Gly289Glu) rs148541545 0.00171
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723 0.00168
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_130797.4(DPP6):c.1711A>C (p.Lys571Gln) rs140460765 0.00168
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950 0.00165
NM_007098.4(CLTCL1):c.3874-4C>G rs184612047 0.00157
NM_004004.6(GJB2):c.*3C>A rs111033460 0.00155
NM_001080467.3(MYO5B):c.1031G>A (p.Arg344His) rs189027956 0.00153
NM_005223.4(DNASE1):c.619C>T (p.Arg207Cys) rs148373909 0.00153
NM_013275.6(ANKRD11):c.6323G>A (p.Gly2108Asp) rs201509886 0.00152
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu) rs111033218 0.00150
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_001278182.2(EOMES):c.436C>T (p.Leu146Phe) rs200215171 0.00146
NM_018341.3(ERMARD):c.1246G>A (p.Val416Ile) rs143351214 0.00145
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196 0.00143
NM_002408.4(MGAT2):c.99G>T (p.Lys33Asn) rs140584714 0.00138
NM_017668.3(NDE1):c.948-2772T>C rs143288748 0.00138
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_001378609.3(OTOGL):c.1990C>T (p.Pro664Ser) rs76420383 0.00136
NM_002691.4(POLD1):c.2007-4G>A rs202035484 0.00135
NM_007315.4(STAT1):c.1222-5T>C rs191364028 0.00135
NM_014363.6(SACS):c.2983G>T (p.Val995Phe) rs142967124 0.00134
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_004260.4(RECQL4):c.716C>T (p.Ala239Val) rs146709578 0.00129
NM_018117.12(WDR11):c.1306A>G (p.Ile436Val) rs34602786 0.00128
NM_003865.3(HESX1):c.525G>A (p.Ala175=) rs141063672 0.00123
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399 0.00122
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr) rs45490792 0.00116
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245 0.00116
NM_182914.3(SYNE2):c.7163A>G (p.Glu2388Gly) rs45590135 0.00116
NM_001018115.3(FANCD2):c.311T>C (p.Ile104Thr) rs143936557 0.00115
NM_001018115.3(FANCD2):c.986C>G (p.Ala329Gly) rs116736407 0.00113
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883 0.00113
NM_000540.3(RYR1):c.725+6G>A rs201679831 0.00111
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298 0.00111
NM_007059.4(KPTN):c.188G>A (p.Arg63Gln) rs142867197 0.00110
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile) rs146571352 0.00109
NM_018993.4(RIN2):c.2501A>T (p.Tyr834Phe) rs183141566 0.00108
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907 0.00106
NM_005609.4(PYGM):c.999+20C>T rs201711087 0.00106
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459 0.00106
NM_001142864.4(PIEZO1):c.1270T>C (p.Tyr424His) rs759627248 0.00103
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val) rs201562505 0.00102
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=) rs148688181 0.00100
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp) rs143030960 0.00099
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672 0.00098
NM_001457.4(FLNB):c.808A>G (p.Met270Val) rs145036794 0.00096
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_004807.3(HS6ST1):c.1121G>A (p.Ser374Asn) rs61732021 0.00094
NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp) rs143502850 0.00093
NM_144991.3(TSPEAR):c.169C>T (p.Arg57Trp) rs140542643 0.00093
NM_181882.3(PRX):c.3496C>T (p.Pro1166Ser) rs147826200 0.00093
NM_001370466.1(NOD2):c.-8-7T>A rs104895421 0.00092
NM_006662.3(SRCAP):c.1559G>A (p.Ser520Asn) rs139339184 0.00090
NM_002968.3(SALL1):c.1878G>C (p.Glu626Asp) rs80248061 0.00089
NM_032119.4(ADGRV1):c.9447+6G>A rs201481219 0.00083
NM_004181.5(UCHL1):c.370A>C (p.Met124Leu) rs150601238 0.00081
NM_004447.6(EPS8):c.1330T>C (p.Phe444Leu) rs139258361 0.00081
NM_006662.3(SRCAP):c.3868A>G (p.Ser1290Gly) rs150246733 0.00081
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975 0.00080
NM_033163.5(FGF8):c.77C>T (p.Pro26Leu) rs137852660 0.00079
NM_145725.3(TRAF3):c.449G>A (p.Arg150His) rs141920055 0.00079
NM_005732.4(RAD50):c.3036+5G>A rs181016343 0.00078
NM_152269.5(MTRFR):c.413A>G (p.Lys138Arg) rs147328685 0.00078
NM_001256545.2(MEGF10):c.1130+3G>A rs115184652 0.00076
NM_004667.6(HERC2):c.2747-3C>A rs200632307 0.00076
NM_018060.4(IARS2):c.951G>A (p.Lys317=) rs146236436 0.00074
NM_182643.3(DLC1):c.2213C>T (p.Thr738Met) rs149472569 0.00074
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227 0.00073
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_001267550.2(TTN):c.38902C>T (p.Pro12968Ser) rs192528655 0.00072
NM_005562.3(LAMC2):c.3206C>T (p.Thr1069Met) rs139043074 0.00072
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764 0.00069
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356 0.00068
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_015404.4(WHRN):c.2027C>G (p.Pro676Arg) rs139279977 0.00067
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val) rs147445499 0.00066
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945 0.00066
NM_004187.5(KDM5C):c.4303C>T (p.Arg1435Cys) rs140506776 0.00066
NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln) rs138817389 0.00063
NM_000124.4(ERCC6):c.400C>T (p.Arg134Trp) rs148095899 0.00061
NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys) rs140512665 0.00061
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg) rs199676994 0.00059
NM_004747.4(DLG5):c.3200G>A (p.Arg1067His) rs201354863 0.00059
NM_017760.7(NCAPG2):c.2249A>G (p.His750Arg) rs199564693 0.00059
NM_000260.4(MYO7A):c.4667C>T (p.Pro1556Leu) rs150654627 0.00058
NM_000152.5(GAA):c.2417C>T (p.Thr806Met) rs139850074 0.00056
NM_001379180.1(ESRRB):c.*1535G>A rs200237229 0.00056
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile) rs111033463 0.00056
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_006078.5(CACNG2):c.640G>A (p.Ala214Thr) rs139052540 0.00054
NM_004722.4(AP4M1):c.930G>A (p.Arg310=) rs141754568 0.00053
NM_144969.3(ZDHHC15):c.831G>C (p.Lys277Asn) rs145401990 0.00052
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00051
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser) rs138607412 0.00051
NM_006017.3(PROM1):c.914C>T (p.Pro305Leu) rs142245630 0.00048
NM_001077525.3(MTMR14):c.1151G>A (p.Ser384Asn) rs115607360 0.00047
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile) rs200776757 0.00047
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met) rs145044872 0.00046
NM_001197104.2(KMT2A):c.1810A>G (p.Met604Val) rs150328852 0.00046
NM_203447.4(DOCK8):c.3058A>G (p.Ile1020Val) rs151094543 0.00046
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_176787.5(PIGN):c.364G>C (p.Glu122Gln) rs200756305 0.00043
NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp) rs61752456 0.00041
NM_001031679.3(MSRB3):c.530C>T (p.Pro177Leu) rs144038296 0.00041
NM_001128840.3(CACNA1D):c.1378G>A (p.Gly460Ser) rs35874056 0.00041
NM_004963.4(GUCY2C):c.2067T>G (p.Asn689Lys) rs138497004 0.00041
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_001164508.2(NEB):c.8801G>A (p.Arg2934His) rs200307392 0.00039
NM_002296.4(LBR):c.367-5T>C rs201626710 0.00039
NM_019112.4(ABCA7):c.3641G>A (p.Trp1214Ter) rs201060968 0.00039
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_001110792.2(MECP2):c.*14G>A rs199963992 0.00037
NM_025114.4(CEP290):c.943-4C>T rs199770158 0.00037
NM_024426.6(WT1):c.216G>T (p.Gln72His) rs5030135 0.00036
NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu) rs373946758 0.00035
NM_001365999.1(SZT2):c.5345C>T (p.Ala1782Val) rs138028425 0.00034
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly) rs201057307 0.00033
NM_013254.4(TBK1):c.964C>T (p.His322Tyr) rs145905497 0.00033
NM_001457.4(FLNB):c.4061+4G>A rs370061963 0.00032
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser) rs147143947 0.00032
NM_003659.4(AGPS):c.214A>G (p.Thr72Ala) rs560217758 0.00031
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_018249.6(CDK5RAP2):c.2003A>G (p.Tyr668Cys) rs137966123 0.00029
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile) rs140537304 0.00028
NM_006579.3(EBP):c.13G>A (p.Ala5Thr) rs201992088 0.00027
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235 0.00026
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys) rs201507590 0.00026
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_001379081.2(FREM1):c.4412G>A (p.Ser1471Asn) rs200650442 0.00025
NM_015158.5(KANK1):c.3554-5T>A rs76738278 0.00025
NM_016239.4(MYO15A):c.5978G>A (p.Arg1993Gln) rs117071200 0.00024
NM_016553.5(NUP62):c.337G>A (p.Gly113Ser) rs200398387 0.00024
NM_018297.4(NGLY1):c.869A>G (p.Asn290Ser) rs370175393 0.00024
NM_030653.4(DDX11):c.1763-1G>C rs148856317 0.00024
NM_133259.4(LRPPRC):c.4132A>G (p.Ser1378Gly) rs149693840 0.00024
NM_144997.7(FLCN):c.715C>T (p.Arg239Cys) rs78683075 0.00024
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_001558.4(IL10RA):c.781C>T (p.Arg261Trp) rs201396764 0.00023
NM_003244.4(TGIF1):c.16+1564G>A rs202123354 0.00023
NM_198271.5(LMOD3):c.1667C>A (p.Pro556Gln) rs201205115 0.00023
NM_000548.5(TSC2):c.2712C>G (p.Phe904Leu) rs137920189 0.00022
NM_017760.7(NCAPG2):c.3085G>A (p.Val1029Ile) rs199598836 0.00022
NM_024757.5(EHMT1):c.905A>G (p.Lys302Arg) rs565065320 0.00022
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00021
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745 0.00018
NM_004004.6(GJB2):c.-23+1G>A rs80338940 0.00017
NM_004369.4(COL6A3):c.4006G>A (p.Val1336Ile) rs144051775 0.00017
NM_144997.7(FLCN):c.580C>T (p.Arg194Trp) rs138070947 0.00017
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys) rs63750114 0.00016
NM_001457.4(FLNB):c.1868A>T (p.Asp623Val) rs145314043 0.00016
NM_031407.7(HUWE1):c.5642A>G (p.Asn1881Ser) rs201965065 0.00015
NM_000942.5(PPIB):c.569G>A (p.Arg190Gln) rs200864554 0.00014
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr) rs201004645 0.00014
NM_006206.6(PDGFRA):c.1135T>G (p.Leu379Val) rs199827643 0.00014
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_007215.4(POLG2):c.1268C>A (p.Ser423Tyr) rs181583071 0.00013
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser) rs560537668 0.00012
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln) rs200069592 0.00011
NM_000843.4(GRM6):c.2398G>A (p.Val800Met) rs369642678 0.00011
NM_001110556.2(FLNA):c.1238C>T (p.Thr413Met) rs782549299 0.00011
NM_001267550.2(TTN):c.57073G>A (p.Val19025Ile) rs181957743 0.00011
NM_001271.4(CHD2):c.5033G>A (p.Arg1678Gln) rs201628571 0.00011
NM_004667.6(HERC2):c.815C>T (p.Thr272Met) rs201979656 0.00011
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280 0.00011
NM_014846.4(WASHC5):c.639G>C (p.Gln213His) rs141234822 0.00011
NM_032119.4(ADGRV1):c.8651T>C (p.Val2884Ala) rs111033517 0.00011
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298 0.00010
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg) rs200407907 0.00010
NM_000268.4(NF2):c.1540A>G (p.Met514Val) rs201527155 0.00009
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775 0.00009
NM_001110792.2(MECP2):c.1375G>A (p.Ala459Thr) rs267608626 0.00009
NM_002878.4(RAD51D):c.196G>A (p.Val66Met) rs56026142 0.00009
NM_003179.3(SYP):c.868G>T (p.Gly290Trp) rs376222680 0.00009
NM_022455.5(NSD1):c.72C>T (p.Ala24=) rs147146776 0.00009
NM_001080517.3(SETD5):c.2462G>A (p.Cys821Tyr) rs376767548 0.00008
NM_001206744.2(TPO):c.1472G>A (p.Arg491His) rs201165648 0.00008
NM_014264.5(PLK4):c.1935+6G>A rs56414190 0.00008
NM_001035.3(RYR2):c.1144G>A (p.Val382Met) rs370057029 0.00007
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly) rs370560998 0.00006
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287 0.00006
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly) rs63751612 0.00006
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu) rs61752457 0.00006
NM_001386125.1(OBSCN):c.11282G>A (p.Arg3761His) rs368175234 0.00006
NM_002474.3(MYH11):c.1913C>T (p.Ser638Leu) rs771128441 0.00006
NM_007294.4(BRCA1):c.3608G>A (p.Arg1203Gln) rs55930959 0.00006
NM_014241.4(HACD1):c.143C>T (p.Thr48Ile) rs864309602 0.00006
NM_022114.4(PRDM16):c.2747C>T (p.Ala916Val) rs756209340 0.00006
NM_206933.4(USH2A):c.12295-3T>A rs111033518 0.00006
NM_000455.5(STK11):c.465-5C>T rs567202367 0.00005
NM_000455.5(STK11):c.970C>G (p.Pro324Ala) rs549474196 0.00005
NM_001267550.2(TTN):c.58017G>C (p.Leu19339Phe) rs368025965 0.00005
NM_017780.4(CHD7):c.8356G>A (p.Gly2786Arg) rs765315726 0.00005
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys) rs767864243 0.00005
NM_174912.4(FAAH2):c.575G>A (p.Arg192Gln) rs201024763 0.00005
NM_000523.4(HOXD13):c.500A>G (p.Tyr167Cys) rs200067774 0.00004
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824 0.00004
NM_001039876.3(SYNE4):c.106G>A (p.Ala36Thr) rs774276326 0.00004
NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile) rs377304621 0.00004
NM_001943.5(DSG2):c.2906C>T (p.Ala969Val) rs373598034 0.00004
NM_017780.4(CHD7):c.7952A>G (p.Asn2651Ser) rs780161032 0.00004
NM_021939.4(FKBP10):c.44C>G (p.Pro15Arg) rs572425083 0.00004
NM_024422.6(DSC2):c.1552G>C (p.Val518Leu) rs397517394 0.00004
NM_032119.4(ADGRV1):c.5587G>A (p.Val1863Ile) rs529184143 0.00004
NM_198904.4(GABRG2):c.632-1212C>T rs587780948 0.00004
NM_000059.4(BRCA2):c.3682A>G (p.Asn1228Asp) rs28897722 0.00003
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916 0.00003
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter) rs371897078 0.00003
NM_000321.3(RB1):c.1814+3A>G rs376886420 0.00003
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter) rs570388861 0.00003
NM_000540.3(RYR1):c.13505A>G (p.Glu4502Gly) rs139647387 0.00003
NM_000540.3(RYR1):c.13691G>A (p.Arg4564Gln) rs864309559 0.00003
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001 0.00003
NM_001429.4(EP300):c.952C>G (p.Pro318Ala) rs762647727 0.00003
NM_004004.6(GJB2):c.44A>C (p.Lys15Thr) rs111033217 0.00003
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs) rs773528125 0.00003
NM_004004.6(GJB2):c.551G>C (p.Arg184Pro) rs80338950 0.00003
NM_006757.4(TNNT3):c.667C>T (p.Arg223Cys) rs367658497 0.00003
NM_017780.4(CHD7):c.295G>C (p.Ala99Pro) rs779024959 0.00003
NM_020066.5(FMN2):c.3413C>T (p.Ala1138Val) rs199570117 0.00003
NM_000059.4(BRCA2):c.3916G>A (p.Val1306Ile) rs80358636 0.00002
NM_000033.4(ABCD1):c.1744G>A (p.Val582Ile) rs76180859 0.00001
NM_000059.4(BRCA2):c.847A>G (p.Ile283Val) rs80359097 0.00001
NM_000141.5(FGFR2):c.138A>C (p.Gln46His) rs748117555 0.00001
NM_000142.5(FGFR3):c.1618A>G (p.Asn540Asp) rs1057519049 0.00001
NM_000143.4(FH):c.1020T>A (p.Asn340Lys) rs398123159 0.00001
NM_000143.4(FH):c.1255T>C (p.Ser419Pro) rs200004220 0.00001
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup) rs757650373 0.00001
NM_001080517.3(SETD5):c.521A>G (p.Lys174Arg) rs375122657 0.00001
NM_001457.4(FLNB):c.5258T>G (p.Phe1753Cys) rs761508385 0.00001
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413 0.00001
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile) rs111033295 0.00001
NM_004553.6(NDUFS6):c.133-4C>T rs754448417 0.00001
NM_005751.5(AKAP9):c.4837A>G (p.Met1613Val) rs193922723 0.00001
NM_006343.3(MERTK):c.584-5C>T rs747835003 0.00001
NM_014254.3(RXYLT1):c.250A>G (p.Ser84Gly) rs745327804 0.00001
NM_014795.4(ZEB2):c.2004G>T (p.Glu668Asp) rs767506087 0.00001
NM_016529.6(ATP8A2):c.145G>T (p.Asp49Tyr) rs864309608 0.00001
NM_017780.4(CHD7):c.986A>G (p.Asn329Ser) rs777040556 0.00001
NM_020461.4(TUBGCP6):c.3383G>A (p.Arg1128Lys) rs567883079 0.00001
NM_144672.4(OTOA):c.755G>A (p.Trp252Ter) rs879255431 0.00001
NM_144997.7(FLCN):c.1522_1524del (p.Lys508del) rs398124529 0.00001
NM_144997.7(FLCN):c.1579C>T (p.Arg527Ter) rs879255683 0.00001
NM_144997.7(FLCN):c.1579_1580insA (p.Arg527fs) rs753009073 0.00001
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp) rs78993751
NM_000059.4(BRCA2):c.6125A>C (p.Gln2042Pro) rs80358852
NM_000059.4(BRCA2):c.8850G>A (p.Lys2950=) rs28897754
NM_000141.5(FGFR2):c.1007A>G (p.Asp336Gly) rs1057519042
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala) rs121918506
NM_000141.5(FGFR2):c.755_756delinsTT (p.Ser252Phe) rs121918498
NM_000141.5(FGFR2):c.940-2A>G rs1057519041
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000143.4(FH):c.1093A>G (p.Ser365Gly) rs863223966
NM_000143.4(FH):c.320A>C (p.Asn107Thr) rs121913121
NM_000143.4(FH):c.556-2A>T rs750273092
NM_000143.4(FH):c.698G>T (p.Arg233Leu) rs121913123
NM_000143.4(FH):c.892G>C (p.Ala298Pro) rs201395553
NM_000143.4(FH):c.965T>G (p.Val322Gly) rs863224003
NM_000147.5(FUCA1):c.1082G>A (p.Trp361Ter) rs864309551
NM_000208.4(INSR):c.653-23TC[9] rs3835070
NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000377.3(WAS):c.273+10_273+11dup rs58371799
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)
NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
NM_000384.3(APOB):c.2222C>A (p.Thr741Asn)
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
NM_000384.3(APOB):c.3634C>A (p.Leu1212Met)
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser)
NM_000384.3(APOB):c.5768A>G (p.His1923Arg)
NM_000384.3(APOB):c.6895G>C (p.Asp2299His)
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.941-4G>A
NM_000527.5(LDLR):c.982G>A (p.Val328Ile) rs768925824
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000540.3(RYR1):c.11049GGA[4] (p.Glu3689del) rs760784102
NM_000551.4(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del) rs5030648
NM_000551.4(VHL):c.232A>G (p.Asn78Asp) rs869025621
NM_000551.4(VHL):c.239G>T (p.Ser80Ile) rs5030805
NM_000551.4(VHL):c.250G>A (p.Val84Met) rs5030827
NM_000551.4(VHL):c.256C>T (p.Pro86Ser) rs398123481
NM_000551.4(VHL):c.257C>G (p.Pro86Arg) rs730882034
NM_000551.4(VHL):c.257C>T (p.Pro86Leu) rs730882034
NM_000551.4(VHL):c.293A>G (p.Tyr98Cys) rs864321643
NM_000551.4(VHL):c.311G>T (p.Gly104Val) rs869025630
NM_000551.4(VHL):c.326T>A (p.Ile109Asn) rs398123482
NM_000551.4(VHL):c.388G>T (p.Val130Phe) rs104893830
NM_000551.4(VHL):c.407T>C (p.Phe136Ser) rs5030833
NM_000551.4(VHL):c.414A>G (p.Pro138=) rs869025648
NM_000551.4(VHL):c.433_439del (p.Gln145fs) rs1559428217
NM_000551.4(VHL):c.485G>A (p.Cys162Tyr) rs397516444
NM_000551.4(VHL):c.490C>T (p.Gln164Ter) rs5030819
NM_000551.4(VHL):c.558_560del (p.Glu186del) rs1559429813
NM_000551.4(VHL):c.575C>T (p.Pro192Leu) rs902694906
NM_000551.4(VHL):c.593T>C (p.Leu198Pro) rs869025667
NM_000791.4(DHFR):c.-437GGGGCGCTG[3] rs60484572
NM_001015880.2(PAPSS2):c.381+21_381+24dup rs367885911
NM_001018115.3(FANCD2):c.1278+3_1278+6del rs369823368
NM_001018115.3(FANCD2):c.2022-5C>T rs4019784
NM_001035.3(RYR2):c.13476+8_13476+11dup rs864309562
NM_001039141.3(TRIOBP):c.1591G>A (p.Ala531Thr) rs201112075
NM_001039958.2(MESP2):c.552GGGGCA[1] (p.180QG[11]) rs56192595
NM_001042492.3(NF1):c.730+2T>G rs200962248
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001110792.2(MECP2):c.414-17del rs61753982
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.6CGC[3] (p.Ala6_Ala8del) rs398123566
NM_001128228.3(TPRN):c.1712C>G (p.Ser571Cys) rs140967677
NM_001142864.4(PIEZO1):c.5743C>A (p.Arg1915Ser) rs13338527
NM_001164508.2(NEB):c.20467-4del rs10687343
NM_001164508.2(NEB):c.20467-5_20467-4dup rs10687343
NM_001194.4(HCN2):c.2144CGC[4] (p.Pro719_Pro721del) rs527536363
NM_001195248.2(APTX):c.484-3del rs373304582
NM_001253852.3(AP4B1):c.114-2A>C rs879255396
NM_001253852.3(AP4B1):c.530_531insA (p.Asn178fs) rs879255397
NM_001303.4(COX10):c.773T>A (p.Leu258His) rs587780911
NM_001323289.2(CDKL5):c.470C>T (p.Ala157Val) rs863225066
NM_001348716.2(KDM6B):c.2253CAC[9] (p.Thr761_Thr762del) rs59627144
NM_001348716.2(KDM6B):c.753ACC[11] (p.Pro263_Pro264del) rs61462443
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) rs2066845
NM_001371928.1(AHDC1):c.3001G>A (p.Ala1001Thr) rs772318314
NM_001372044.2(SHANK3):c.3133G>T (p.Ala1045Ser) rs530255181
NM_001374828.1(ARID1B):c.1303GGC[5] (p.Gly440del) rs797045268
NM_001375883.1(GPR161):c.-45+395dup rs200664972
NM_001378454.1(ALMS1):c.36GGA[12] (p.Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36_74= (p.Leu12_Glu25=) rs55889738
NM_001378454.1(ALMS1):c.5183A>G (p.Asp1728Gly) rs879255405
NM_001379500.1(COL18A1):c.107-12195G>A rs62000960
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) rs145735762
NM_001807.6(CEL):c.2134G>A (p.Ala712Thr) rs75294797
NM_001807.6(CEL):c.7C>T (p.Arg3Cys) rs201383133
NM_001854.4(COL11A1):c.652-6del rs36076089
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001958.5(EEF1A2):c.1366CAGAAGGCG[1] (p.456QKA[1]) rs879255373
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002693.3(POLG):c.264C>T (p.Phe88=) rs144439703
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter) rs876658461
NM_003070.5(SMARCA2):c.669GCA[15] (p.Gln238_Pro239insGlnGln) rs113070757
NM_003738.5(PTCH2):c.1864C>A (p.His622Asn) rs11573586
NM_004004.6(GJB2):c.176_191del (p.Gly59fs) rs750188782
NM_004004.6(GJB2):c.334_335del (p.Lys112fs) rs756484720
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln) rs80338950
NM_004004.6(GJB2):c.647_650del (p.Arg216fs) rs587783647
NM_004260.4(RECQL4):c.1028C>T (p.Pro343Leu) rs549381989
NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala) rs113994088
NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro) rs113994089
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln) rs113994087
NM_004333.6(BRAF):c.2128-5dup rs373442098
NM_004484.4(GPC3):c.338-5del rs370737647
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del) rs11466445
NM_004993.6(ATXN3):c.892CAG[18] (p.Gln305_Gly306insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) rs193922928
NM_005002.5(NDUFA9):c.224G>T (p.Arg75Leu) rs35263902
NM_005045.4(RELN):c.-24GGC[12] (p.Met1_Glu2insGlyGlyGlyGly) rs55656324
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_005249.5(FOXG1):c.219GCC[7] (p.Pro80dup) rs786200975
NM_005548.3(KARS1):c.223-6del rs370077957
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.2096C>T (p.Thr699Met) rs28937894
NM_006767.4(LZTR1):c.651+10_651+46del rs541944601
NM_014795.4(ZEB2):c.3067+6A>T rs143450927
NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter) rs879255404
NM_016379.4(VCX3A):c.478G>A (p.Val160Met) rs35874450
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro) rs864309609
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) rs886040995
NM_017780.4(CHD7):c.6148C>T (p.Arg2050Ter) rs886040996
NM_017780.4(CHD7):c.6287A>G (p.His2096Arg) rs587783451
NM_017780.4(CHD7):c.7802dup (p.Tyr2601Ter) rs886040998
NM_018714.3(COG1):c.903G>C (p.Gln301His) rs117208167
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter) rs797044883
NM_020066.5(FMN2):c.2840C>T (p.Pro947Leu) rs201741828
NM_020461.4(TUBGCP6):c.5327C>G (p.Ser1776Cys) rs374204240
NM_020928.2(ZSWIM6):c.442GGC[5] (p.Gly153_Gly154del) rs864309616
NM_020928.2(ZSWIM6):c.57CGG[4] (p.Gly25_Gly26del) rs565100893
NM_020928.2(ZSWIM6):c.83GCG[7] (p.Gly33dup) rs528020839
NM_023067.4(FOXL2):c.313_315del (p.Asn105del) rs1057516154
NM_023067.4(FOXL2):c.389T>C (p.Leu130Pro) rs1057516160
NM_024079.5(ALG8):c.369-6A>G rs201483866
NM_024408.4(NOTCH2):c.17_18del (p.Pro6fs) rs372504208
NM_024665.7(TBL1XR1):c.86G>A (p.Gly29Asp) rs879255421
NM_030665.4(RAI1):c.834GCA[9] (p.Gln288_Gln291del) rs371983878
NM_080425.4(GNAS):c.657C>T (p.Pro219=) rs752004692
NM_130839.5(UBE3A):c.2563_2568del (p.Leu855_Lys856del) rs863225070
NM_130839.5(UBE3A):c.592G>A (p.Ala198Thr) rs147145506
NM_138425.4(C12orf57):c.229+25_229+43del rs199730337
NM_138576.4(BCL11B):c.1901_1906dup (p.Gly634_Asp635dup) rs760277241
NM_144687.4(NLRP12):c.2927+4_2927+5dup rs763190690
NM_144773.4(PROKR2):c.253C>T (p.Arg85Cys) rs141090506
NM_144997.7(FLCN):c.1177-5_1177-3del rs767671406
NM_144997.7(FLCN):c.1300+1G>A rs879255676
NM_144997.7(FLCN):c.1389C>A (p.Tyr463Ter) rs137852929
NM_144997.7(FLCN):c.1658G>A (p.Trp553Ter) rs879255684
NM_144997.7(FLCN):c.250-1G>A rs786202081
NM_144997.7(FLCN):c.250-2A>G rs398124533
NM_144997.7(FLCN):c.466TTC[1] (p.Phe157del) rs786203218
NM_144997.7(FLCN):c.763C>T (p.His255Tyr) rs879255664
NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)
NM_174936.4(PCSK9):c.1658A>G (p.His553Arg)
NM_181675.3(PPP2R2B):c.27[15] (p.Ser10[15]) rs10591869
NM_182961.4(SYNE1):c.17203-6del rs55633181
NM_198892.2(BMP2K):c.3481C>T (p.Gln1161Ter) rs138262352
NM_198904.4(GABRG2):c.107+6A>G rs868452487
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
m.3308T>C rs28358582

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