ClinVar Miner

Variants from Fulgent Genetics,Fulgent Genetics with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Fulgent Genetics,Fulgent Genetics: Collection method of the submission from Fulgent Genetics,Fulgent Genetics:
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
2510 1627 57 394 309 14 83 795

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
Fulgent Genetics,Fulgent Genetics pathogenic likely pathogenic uncertain significance likely benign benign risk factor other
pathogenic 53 222 30 1 3 6 7
likely pathogenic 133 2 13 0 0 0 0
uncertain significance 22 19 1 244 60 0 1
likely benign 1 0 16 0 35 0 0
benign 1 0 6 5 1 0 0

Submitter to submitter summary #

Total submitters: 127
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 1076 0 94 185 1 14 294
Counsyl 0 214 0 114 3 0 3 120
Illumina Clinical Services Laboratory,Illumina 0 403 0 38 41 0 6 85
GeneReviews 0 64 53 9 0 0 4 66
Natera, Inc. 0 223 0 29 32 0 1 62
OMIM 0 238 0 30 2 11 10 53
Ambry Genetics 0 110 0 9 31 0 2 42
Integrated Genetics/Laboratory Corporation of America 0 220 0 25 7 0 1 33
Baylor Genetics 0 199 0 25 0 0 4 29
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 23 0 26 3 0 0 29
Myriad Women's Health, Inc. 0 88 0 26 0 0 0 26
Michigan Medical Genetics Laboratories,University of Michigan 0 10 0 23 2 0 0 25
Sharing Clinical Reports Project (SCRP) 0 19 0 18 6 0 0 24
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 33 0 20 2 0 1 23
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 34 0 17 3 0 0 20
Mendelics 0 68 0 7 9 0 3 19
Color Health, Inc 0 72 0 5 14 0 0 19
Breast Cancer Information Core (BIC) (BRCA2) 0 19 0 8 8 0 0 16
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 80 0 10 4 0 1 15
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 39 0 12 2 0 0 14
Breast Cancer Information Core (BIC) (BRCA1) 0 6 0 1 11 0 1 13
NIHR Bioresource Rare Diseases, University of Cambridge 0 7 0 11 0 0 2 13
Genetic Services Laboratory, University of Chicago 0 95 0 9 1 0 1 11
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 102 0 8 3 0 0 11
GeneDx 0 246 0 5 6 0 0 11
LDLR-LOVD, British Heart Foundation 0 4 0 11 0 0 0 11
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 26 0 5 0 0 6 11
SIB Swiss Institute of Bioinformatics 0 7 0 10 0 0 1 11
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 10 0 10 0 0 1 11
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 41 0 8 0 0 2 10
Robarts Research Institute,Western University 0 0 0 10 0 0 0 10
Institute of Human Genetics, University of Leipzig Medical Center 0 34 0 5 3 0 2 10
Pathway Genomics 0 4 0 8 0 0 0 8
Division of Human Genetics,Children's Hospital of Philadelphia 0 23 0 8 0 0 0 8
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 3 0 8 0 0 0 8
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 1 0 8 0 0 0 8
Department of Pathology and Laboratory Medicine,Sinai Health System 0 27 0 4 0 0 3 7
Molecular Biology Laboratory, Fundació Puigvert 0 2 0 6 0 0 1 7
Institute of Human Genetics, Klinikum rechts der Isar 0 23 0 6 0 0 0 6
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 17 0 6 0 0 0 6
Leiden Open Variation Database 0 10 0 5 0 0 1 6
Broad Institute Rare Disease Group, Broad Institute 0 25 0 5 0 0 1 6
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 5 0 2 0 0 4 6
Quest Diagnostics Nichols Institute San Juan Capistrano 0 119 0 2 3 0 0 5
Blueprint Genetics 0 21 0 5 0 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 49 0 1 3 0 1 5
Fundacion Hipercolesterolemia Familiar 0 5 0 5 0 0 0 5
ClinGen PAH Variant Curation Expert Panel 0 24 0 5 0 0 0 5
Reproductive Health Research and Development,BGI Genomics 0 20 0 4 0 1 0 5
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 11 0 2 1 0 1 4
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 2 2 0 0 0 4
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 3 0 4 0 0 0 4
Database of Curated Mutations (DoCM) 0 0 0 4 0 0 0 4
Research and Development, ARUP Laboratories 0 15 1 3 0 0 0 4
Iberoamerican FH Network 0 4 0 4 0 0 0 4
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 55 0 0 2 1 0 3
UCLA Clinical Genomics Center, UCLA 0 0 0 3 0 0 0 3
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 6 0 3 0 0 0 3
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 15 0 3 0 0 0 3
Paris Brain Institute,Inserm - ICM 0 1 0 1 0 0 2 3
Athena Diagnostics Inc 0 12 0 1 1 0 0 2
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 2 2 0 0 0 0 2
Elsea Laboratory,Baylor College of Medicine 0 6 0 0 0 0 2 2
Centogene AG - the Rare Disease Company 0 14 0 2 0 0 0 2
Mayo Clinic Laboratories, Mayo Clinic 0 37 0 2 0 0 0 2
Institute for Integrative and Experimental Genomics,University of Luebeck 0 0 0 2 0 0 0 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 25 0 1 1 0 0 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 38 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 6 0 2 0 0 0 2
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 6 0 2 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 1 0 2 0 0 0 2
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 0 1 2
Department of Medical Genetics, University Hospital of North Norway 0 2 0 2 0 0 0 2
Undiagnosed Diseases Network,NIH 0 8 0 2 0 0 0 2
Sharon lab,Hadassah-Hebrew University Medical Center 0 2 0 1 0 0 1 2
Inherited Neuropathy Consortium 0 0 0 1 0 0 1 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 18 0 2 0 0 0 2
Cavalleri Lab, Royal College of Surgeons in Ireland 0 3 0 2 0 0 0 2
Genesis Genome Database 0 0 0 0 0 0 2 2
Nilou-Genome Lab 0 2 0 0 2 0 0 2
Laboratory of Molecular Genetics,Children's Memorial Health Institute 0 1 0 1 0 0 1 2
Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine 0 0 0 2 0 0 0 2
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 2 0 1 0 0 0 1
King Laboratory,University of Washington 0 1 0 0 0 0 1 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 6 0 1 0 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 0 12 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 7 0 1 0 0 0 1
Fulgent Genetics,Fulgent Genetics 4923 8 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 11 0 1 0 0 0 1
RettBASE 0 2 0 0 1 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 1 0 1 0 0 0 1
Department of Medical Genetics, Oslo University Hospital 0 4 0 1 0 0 0 1
Center for Medical Genetics Ghent,University of Ghent 0 0 0 1 0 0 0 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 3 0 0 1 0 0 1
Clinical Genetics Research Group, University of Calgary 0 0 0 1 0 0 0 1
Language and Genetics Department,Max Planck Institute for Psycholinguistics 0 0 0 1 0 0 0 1
Neurogenetics of motion laboratory,Montreal Neurological Institute 0 1 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 4 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 1 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 1 0 0 0 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 0 0 1 0 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 3 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 3 0 1 0 0 0 1
Shendure Lab,University of Washington 0 0 0 1 0 0 0 1
Kasturba Medical College, Manipal University 0 2 0 1 0 0 0 1
The Molecular Genetic Diagnosis Center, 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 8 0 1 0 0 0 1
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital 0 0 0 1 0 0 0 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 11 0 1 0 0 0 1
Snyder Lab, Genetics Department,Stanford University 0 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 29 0 0 0 0 1 1
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 6 0 1 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 2 0 0 0 0 1 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 1 0 0 1 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 6 0 1 0 0 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 3 0 0 0 0 1 1
Clinical Genetics, Amsterdam Medical Centre 0 0 0 0 1 0 0 1
CZECANCA consortium 0 6 0 0 0 0 1 1
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia 0 7 0 1 0 0 0 1
Clinical Genomics Program, Stanford Medicine 0 1 0 1 0 0 0 1
Department of Pathophysiology and Transplantation,University of Milan 0 1 0 1 0 0 0 1
Pars Genome Lab 0 2 0 0 0 0 1 1
Sydney Genome Diagnostics,Children's Hospital Westmead 0 2 0 1 0 0 0 1
Department of Vascular Biology,Beijing Anzhen Hospital 0 1 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 795
Download table as spreadsheet
HGVS dbSNP
GRCh37/hg19 6q26(chr6:162864400-162864441)
NM_000016.5(ACADM):c.157C>T (p.Arg53Cys) rs398123072
NM_000016.5(ACADM):c.583G>A (p.Gly195Arg) rs121434278
NM_000016.5(ACADM):c.600-18G>A rs370523609
NM_000016.5(ACADM):c.797A>G (p.Asp266Gly) rs201375579
NM_000016.5(ACADM):c.881G>C (p.Arg294Thr) rs779759347
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly) rs387906950
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) rs57443665
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154
NM_000018.4(ACADVL):c.1679-6G>A rs113994171
NM_000020.2(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000022.2(ADA):c.986C>T rs121908715
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739
NM_000022.4(ADA):c.43C>G (p.His15Asp) rs121908725
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000030.3(AGXT):c.777-1G>C rs180177267
NM_000033.4(ABCD1):c.1582G>A (p.Gly528Ser) rs376472029
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429
NM_000036.2(AMPD1):c.567G>T (p.Gln189His) rs139582106
NM_000043.6(FAS):c.651+1G>A rs1564696849
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279
NM_000050.4(ASS1):c.970+5G>A rs372128852
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967
NM_000053.4(ATP7B):c.1708-5T>G rs770829226
NM_000053.4(ATP7B):c.1924G>T (p.Asp642Tyr) rs72552285
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met) rs776280797
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met) rs193922107
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu) rs201427280
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884
NM_000057.4(BLM):c.274A>G (p.Asn92Asp) rs200690226
NM_000057.4(BLM):c.98+1G>T rs750293380
NM_000059.3(BRCA2):c.1568A>G (p.His523Arg) rs80358443
NM_000059.3(BRCA2):c.3420T>C (p.Ser1140=) rs118093942
NM_000059.3(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664
NM_000059.3(BRCA2):c.551T>C (p.Leu184Pro) rs80358775
NM_000059.3(BRCA2):c.5552T>G (p.Ile1851Ser) rs80358776
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.6877T>C (p.Phe2293Leu) rs80358912
NM_000059.3(BRCA2):c.9253dupA (p.Thr3085Asnfs) rs80359752
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.4(BRCA2):c.2751A>G (p.Val917=) rs765644162
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.4(BRCA2):c.68-7T>A rs81002830
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235
NM_000059.4(BRCA2):c.7463G>A (p.Arg2488Lys) rs80358968
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=) rs9590940
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.4(BRCA2):c.9257-16T>C rs11571818
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521
NM_000059.4(BRCA2):c.9699_9702del rs80359775
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000069.3(CACNA1S):c.1385G>A (p.Arg462His) rs146696298
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290
NM_000071.2(CBS):c.1006C>T (p.Arg336Cys) rs398123151
NM_000071.2(CBS):c.1330G>A (p.Asp444Asn) rs28934891
NM_000071.2(CBS):c.146C>T (p.Pro49Leu) rs148865119
NM_000071.2(CBS):c.341C>T (p.Ala114Val) rs121964964
NM_000083.3(CLCN1):c.689G>A (p.Gly230Glu) rs80356700
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) rs80356687
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln) rs80356702
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388
NM_000110.3(DPYD):c.2275C>T (p.Arg759Ter) rs759372918
NM_000110.3(DPYD):c.661G>T (p.Glu221Ter) rs146170505
NM_000112.3(SLC26A2):c.1046T>A (p.Phe349Tyr) rs114212275
NM_000118.3(ENG):c.121G>A (p.Glu41Lys) rs199675436
NM_000118.3(ENG):c.68-1G>A rs878853659
NM_000118.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661
NM_000128.3(F11):c.1107C>A (p.Tyr369Ter) rs773905328
NM_000128.3(F11):c.1234C>T (p.Gln412Ter) rs538083600
NM_000128.3(F11):c.1489C>T (p.Arg497Ter) rs375422404
NM_000128.3(F11):c.1556G>A (p.Trp519Ter) rs201007090
NM_000128.3(F11):c.400C>T (p.Gln134Ter) rs756908183
NM_000128.3(F11):c.901T>C (p.Phe301Leu) rs121965064
NM_000135.4(FANCA):c.1226-2A>G rs773906241
NM_000135.4(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter) rs752160950
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro) rs780825099
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys) rs745882980
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947
NM_000137.3(FAH):c.192G>T (p.Gln64His) rs80338894
NM_000137.3(FAH):c.456G>A (p.Trp152Ter) rs370686447
NM_000137.3(FAH):c.554-1G>T rs80338895
NM_000137.3(FAH):c.782C>T (p.Pro261Leu) rs80338898
NM_000137.4(FAH):c.1062+5G>A rs80338901
NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.5(FBN1):c.1948C>T rs193922185
NM_000138.5(FBN1):c.2645C>T rs794728195
NM_000138.5(FBN1):c.3712G>A rs794728208
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met) rs377338217
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys) rs148888513
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.5(GAA):c.169C>T (p.Gln57Ter) rs1057516251
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln) rs377126280
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415
NM_000152.5(GAA):c.688G>A (p.Val230Met) rs145866792
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659
NM_000153.4(GALC):c.1592G>A (p.Arg531His) rs200378205
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000155.4(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000156.6(GAMT):c.327G>A (p.Lys109=) rs80338735
NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys) rs121434370
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln) rs755586631
NM_000159.4(GCDH):c.395G>A (p.Arg132Gln) rs200639270
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) rs139851890
NM_000159.4(GCDH):c.764C>T (p.Ser255Leu) rs758503371
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr) rs121434371
NM_000163.5(GHR):c.535C>T (p.Arg179Cys) rs121909362
NM_000169.2(GLA):c.1088G>A (p.Arg363His) rs111422676
NM_000169.2(GLA):c.335G>A (p.Arg112His) rs372966991
NM_000170.2(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.2(GLDC):c.1786C>T (p.Arg596Ter) rs386833531
NM_000170.2(GLDC):c.2838+2T>C rs1554641887
NM_000171.4(GLRA1):c.50T>C (p.Phe17Ser) rs376426309
NM_000174.4(GP9):c.182A>G (p.Asn61Ser) rs5030764
NM_000181.4(GUSB):c.1144C>T (p.Arg382Cys) rs121918173
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) rs149606212
NM_000182.5(HADHA):c.652G>C (p.Val218Leu) rs71441018
NM_000187.4(HGD):c.1102A>G (p.Met368Val) rs120074173
NM_000187.4(HGD):c.481G>A (p.Gly161Arg) rs28941783
NM_000191.3(HMGCL):c.698A>G (p.His233Arg) rs727503963
NM_000192.3(TBX5):c.510+5G>A rs1555226301
NM_000199.5(SGSH):c.1297C>T (p.Arg433Trp) rs777267343
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) rs374621913
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056
NM_000217.3(KCNA1):c.60G>C (p.Gln20His) rs201504073
NM_000227.5(LAMA3):c.4114C>T (p.Gln1372Ter) rs772038362
NM_000231.2(SGCG):c.848G>A (p.Cys283Tyr) rs104894422
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232
NM_000249.3(MLH1):c.1558+5G>A rs199935667
NM_000249.3(MLH1):c.1730C>T (p.Ser577Leu) rs56185292
NM_000249.3(MLH1):c.1897-2A>G rs267607871
NM_000249.3(MLH1):c.208-3C>G rs267607720
NM_000249.3(MLH1):c.2174G>A (p.Arg725His) rs566928243
NM_000249.3(MLH1):c.955G>A (p.Glu319Lys) rs63750796
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser) rs63751467
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) rs63750447
NM_000249.4(MLH1):c.1154G>A (p.Arg385His) rs63750430
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527
NM_000249.4(MLH1):c.2059C>T rs63751275
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala) rs41295280
NM_000251.2(MSH2):c.1217G>A (p.Arg406Gln) rs146567853
NM_000251.2(MSH2):c.1748A>G (p.Asn583Ser) rs201118107
NM_000251.2(MSH2):c.2516A>G (p.His839Arg) rs63750027
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) rs267607939
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys) rs17217723
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124
NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser) rs188766510
NM_000255.4(MMUT):c.1956+2T>C rs750619189
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn) rs73167107
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529
NM_000263.4(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970
NM_000270.4(PNP):c.286-18G>A rs1026474882
NM_000271.5(NPC1):c.1552C>T (p.Arg518Trp) rs377515417
NM_000271.5(NPC1):c.1554-1009G>A rs1055204017
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser) rs138184115
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu) rs369368181
NM_000271.5(NPC1):c.2257G>A (p.Val753Met) rs146874573
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe) rs145362908
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650
NM_000271.5(NPC1):c.2848G>A (p.Val950Met) rs120074135
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr) rs111256741
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166
NM_000275.3(OCA2):c.1503+5G>A rs368124046
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser) rs62516062
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) rs62508646
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786
NM_000277.3(PAH):c.261C>A (p.Ser87Arg) rs62516151
NM_000277.3(PAH):c.283A>T (p.Ile95Phe) rs62508682
NM_000277.3(PAH):c.441+5G>T rs62507321
NM_000277.3(PAH):c.527G>T (p.Arg176Leu) rs74486803
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851
NM_000277.3(PAH):c.913-7A>G rs62517165
NM_000277.3(PAH):c.916A>G (p.Ile306Val) rs62642934
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418
NM_000289.6(PFKM):c.237+1G>A rs202143236
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys) rs34667348
NM_000303.3(PMM2):c.178G>T (p.Val60Leu) rs759513930
NM_000303.3(PMM2):c.255+1G>A rs1060499598
NM_000303.3(PMM2):c.255+2T>C rs139716296
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000310.3(PPT1):c.904A>G (p.Ile302Val) rs146902902
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691
NM_000350.3(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558
NM_000350.3(ABCA4):c.1957C>T (p.Arg653Cys) rs61749420
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146
NM_000350.3(ABCA4):c.5461-10T>C rs1800728
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641
NM_000352.5(ABCC8):c.413-5G>A rs186946111
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) rs72559734
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu) rs143473912
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892
NM_000360.4(TH):c.679G>A (p.Glu227Lys) rs536382000
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000393.5(COL5A2):c.2741C>T (p.Ala914Val) rs201486858
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327
NM_000404.4(GLB1):c.1325G>A (p.Arg442Gln) rs564428355
NM_000404.4(GLB1):c.1588C>T (p.Arg530Cys) rs371397760
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg) rs371582179
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) rs766199971
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995
NM_000448.2(RAG1):c.1064T>C (p.Met355Thr) rs151077440
NM_000448.2(RAG1):c.1303A>G (p.Met435Val) rs141524540
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) rs587780021
NM_000465.4(BARD1):c.1996C>T (p.Gln666Ter) rs730881422
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) rs121918009
NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys) rs371243939
NM_000478.6(ALPL):c.1471G>A (p.Gly491Arg) rs1413274209
NM_000478.6(ALPL):c.400_401delinsCA (p.Thr134His) rs786204530
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys) rs148352371
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) rs74315458
NM_000487.6(ARSA):c.465+1G>A rs80338815
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457
NM_000487.6(ARSA):c.827C>T (p.Thr276Met) rs74315472
NM_000487.6(ARSA):c.869G>A (p.Arg290His) rs199476355
NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) rs1800073
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759
NM_000500.9(CYP21A2):c.*13G>A rs6447
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.92+6T>C rs35724775
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp) rs373979283
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566
NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys) rs879254800
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1634G>A (p.Gly545Glu) rs759876319
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.5(LDLR):c.427T>C (p.Cys143Arg) rs875989901
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe) rs376459828
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106
NM_000535.7(PMS2):c.1552G>A (p.Glu518Lys) rs376142390
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300
NM_000535.7(PMS2):c.1928A>G (p.Gln643Arg) rs760629688
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp) rs149202766
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000552.4(VWF):c.1625C>G (p.Ala542Gly) rs141649383
NM_000553.6(WRN):c.130C>G (p.Leu44Val) rs139775895
NM_000553.6(WRN):c.1382C>T (p.Thr461Met) rs371602600
NM_000553.6(WRN):c.3259A>G (p.Lys1087Glu) rs374154973
NM_000553.6(WRN):c.3778G>A (p.Ala1260Thr) rs201107091
NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr) rs142614369
NM_000553.6(WRN):c.4127C>T (p.Pro1376Leu) rs146055899
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=) rs200553205
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter) rs533885672
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro) rs148417330
NM_000814.6(GABRB3):c.557C>T (p.Thr186Met) rs769801846
NM_000940.3(PON3):c.94C>T (p.Arg32Ter) rs147006695
NM_000965.4(RARB):c.1159C>T (p.Arg387Cys) rs397518483
NM_000969.5(RPL5):c.3+3G>C rs200628272
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) rs121434406
NM_001002294.3(FMO3):c.458C>T (p.Pro153Leu) rs72549326
NM_001004334.4(GPR179):c.959G>A (p.Arg320Gln) rs189931659
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln) rs147992238
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001036.5(RYR3):c.923G>A (p.Arg308Gln) rs201830013
NM_001077401.2(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr) rs199813223
NM_001080.3(ALDH5A1):c.293C>G (p.Ala98Gly) rs535825137
NM_001082575.2(RBFOX3):c.19C>T (p.Pro7Ser) rs376060745
NM_001082575.2(RBFOX3):c.347G>A (p.Arg116Gln) rs199891032
NM_001083961.2(WDR62):c.1225A>G (p.Asn409Asp) rs146180912
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001105206.3(LAMA4):c.5270C>T (p.Pro1757Leu) rs200177134
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln) rs145790362
NM_001111125.3(IQSEC2):c.2053G>A (p.Glu685Lys) rs781830206
NM_001113491.2(SEPTIN9):c.316C>T (p.Arg106Trp) rs80338761
NM_001122681.2(SH3BP2):c.1686A>G (p.Ter562Trp) rs190648042
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln) rs202114767
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg) rs34803727
NM_001127222.2(CACNA1A):c.3410C>G (p.Pro1137Arg) rs200333359
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys) rs375354077
NM_001127649.3(PEX26):c.200A>G (p.Asn67Ser) rs201884779
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter) rs200763627
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser) rs138654170
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His) rs121908958
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004
NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln) rs138926584
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr) rs753102653
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg) rs201148126
NM_001134407.3(GRIN2A):c.3505C>T (p.Arg1169Trp) rs369878342
NM_001142800.2(EYS):c.2137+1G>A rs199740930
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter) rs137853190
NM_001145715.2(KPNA7):c.865G>C (p.Val289Leu) rs191355534
NM_001160301.1(DPYD):c.208C>T (p.Arg70Ter) rs141597515
NM_001167617.2(MLH1):c.-426_-425delinsTG rs63749994
NM_001168338.1(PLG):c.112A>G (p.Lys38Glu) rs73015965
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu) rs146264035
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707
NM_001184880.2(PCDH19):c.1700C>T (p.Pro567Leu) rs201989363
NM_001193416.3(DDX3X):c.1600C>T (p.Arg534Cys) rs1555954284
NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg) rs187695569
NM_001206927.2(DNAH8):c.12100C>T (p.Leu4034Phe) rs146505940
NM_001242897.2(DEPDC5):c.1525C>T (p.Arg509Cys) rs202083639
NM_001242897.2(DEPDC5):c.2273A>G (p.Tyr758Cys) rs773004067
NM_001242897.2(DEPDC5):c.3030+3861C>T rs79027628
NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter) rs748382994
NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe) rs138886378
NM_001253852.3(AP4B1):c.755T>C (p.Val252Ala) rs141417436
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519
NM_001271.4(CHD2):c.4061G>A (p.Arg1354Lys) rs370160870
NM_001271208.2(NEB):c.24094C>T (p.Arg8032Ter) rs549794342
NM_001271208.2(NEB):c.24559C>T (p.Arg8187Ter) rs763364977
NM_001271208.2(NEB):c.3255+1G>T rs375628303
NM_001271208.2(NEB):c.37-1G>A rs1428597732
NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile) rs863225119
NM_001278074.1(COL5A1):c.292G>A (p.Glu98Lys) rs369126350
NM_001278074.1(COL5A1):c.3292G>A (p.Ala1098Thr) rs772521985
NM_001278074.1(COL5A1):c.367C>G (p.Gln123Glu) rs142114921
NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter) rs1479104927
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001330504.1(ALG1):c.440C>T (p.Ser147Leu) rs28939378
NM_001330504.1(ALG1):c.854+3A>G rs369160589
NM_001347721.2(DYRK1A):c.1762G>A (p.Ala588Thr) rs200808105
NM_001349253.2(SCN11A):c.1986A>G (p.Gln662=) rs746550786
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys) rs140243105
NM_001360.2(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860
NM_001360.2(DHCR7):c.1091C>T (p.Thr364Met) rs567600444
NM_001360.2(DHCR7):c.1210C>T (p.Arg404Cys) rs61757582
NM_001360.2(DHCR7):c.1337G>A (p.Arg446Gln) rs751604696
NM_001360.2(DHCR7):c.1396G>A (p.Val466Met) rs760428437
NM_001360.2(DHCR7):c.1409T>A (p.Leu470Gln) rs1331331095
NM_001360.2(DHCR7):c.292C>T (p.Gln98Ter) rs104886039
NM_001360.2(DHCR7):c.682C>T (p.Arg228Trp) rs775773057
NM_001360.2(DHCR7):c.976G>T (p.Val326Leu) rs80338859
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001364171.2(ODAD1):c.1502+5G>A rs201133219
NM_001365536.1(SCN9A):c.2006G>A (p.Arg669His) rs200374987
NM_001369.2(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872
NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile) rs5743291
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375
NM_001458.4(FLNC):c.5020G>A (p.Gly1674Ser) rs374124083
NM_001609.3(ACADSB):c.1187A>C (p.Lys396Thr) rs148640214
NM_001692.4(ATP6V1B1):c.943C>T (p.Arg315Ter) rs145536062
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys) rs864309721
NM_001813.3(CENPE):c.2797G>A (p.Asp933Asn) rs144716013
NM_001848.2(COL6A1):c.202C>T (p.Arg68Cys) rs137964147
NM_001848.2(COL6A1):c.349G>A (p.Val117Met) rs150686304
NM_001876.4(CPT1A):c.100T>C (p.Ser34Pro) rs398123653
NM_001918.4(DBT):c.670G>T (p.Glu224Ter) rs74103423
NM_001918.4(DBT):c.901C>T (p.Arg301Cys) rs185492864
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu) rs137854448
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln) rs63751100
NM_002163.4(IRF8):c.602C>T (p.Ala201Val) rs144424711
NM_002180.2(IGHMBP2):c.1156T>C (p.Trp386Arg) rs759641927
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002225.5(IVD):c.358G>A (p.Gly120Arg) rs142761835
NM_002234.4(KCNA5):c.797C>T (p.Thr266Ile) rs369750762
NM_002234.4(KCNA5):c.79G>A (p.Gly27Ser) rs201238766
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys) rs149082597
NM_002435.3(MPI):c.656G>A (p.Arg219Gln) rs104894489
NM_002471.4(MYH6):c.292G>A (p.Glu98Lys) rs140596256
NM_002474.3(MYH11):c.5732C>T (p.Thr1911Met) rs748516947
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser) rs41554817
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) rs145843073
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519
NM_002878.3(RAD51D):c.451C>T (p.Gln151Ter) rs587781756
NM_002878.3(RAD51D):c.620C>T (p.Ser207Leu) rs370228071
NM_003036.4(SKI):c.2183C>T (p.Pro728Leu) rs372950890
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His) rs191293931
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921
NM_003060.4(SLC22A5):c.1643G>A (p.Arg548Lys) rs150775371
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726
NM_003060.4(SLC22A5):c.695C>T (p.Thr232Met) rs114269482
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620
NM_003477.3(PDHX):c.44G>A (p.Arg15His) rs387906998
NM_003560.4(PLA2G6):c.898G>A (p.Ala300Thr) rs528966598
NM_003619.4(PRSS12):c.523G>A (p.Gly175Ser) rs145151396
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058
NM_003742.4(ABCB11):c.2012-8T>G rs769910565
NM_003764.4(STX11):c.589G>A (p.Val197Met) rs141499372
NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp) rs143030960
NM_003865.3(HESX1):c.385G>A (p.Val129Ile) rs143057250
NM_003907.3(EIF2B5):c.1946T>C (p.Ile649Thr) rs1064794256
NM_003977.4(AIP):c.26G>A (p.Arg9Gln) rs139459091
NM_004130.3(GYG1):c.304G>C (p.Asp102His) rs143137713
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144
NM_004168.4(SDHA):c.991G>A (p.Ala331Thr) rs200526913
NM_004252.5(SLC9A3R1):c.458G>A (p.Arg153Gln) rs41282065
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331
NM_004304.5(ALK):c.1183C>T (p.Arg395Cys) rs779282861
NM_004304.5(ALK):c.310C>T (p.Pro104Ser) rs576431612
NM_004321.7(KIF1A):c.3191T>C (p.Ile1064Thr) rs35698242
NM_004321.7(KIF1A):c.3377C>T (p.Pro1126Leu) rs374244985
NM_004321.7(KIF1A):c.4606G>A (p.Glu1536Lys) rs377032453
NM_004321.7(KIF1A):c.4652G>A (p.Arg1551Gln) rs376658420
NM_004364.4(CEBPA):c.667G>A (p.Gly223Ser) rs535980233
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro) rs377686388
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg) rs779896449
NM_004456.4(EZH2):c.965A>G (p.Asn322Ser) rs151023145
NM_004483.5(GCSH):c.53C>T (p.Ala18Val) rs540997326
NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu) rs147173555
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004565.3(PEX14):c.575C>G (p.Ala192Gly) rs147706488
NM_004629.1(FANCG):c.1480+1G>C rs149616199
NM_004629.1(FANCG):c.881G>A (p.Gly294Glu) rs17880082
NM_004646.3(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863
NM_004646.3(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895
NM_004656.4(BAP1):c.878C>T (p.Pro293Leu) rs777664260
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val) rs55791823
NM_004933.3(CDH15):c.274C>T (p.Arg92Trp) rs121434540
NM_004937.3(CTNS):c.589G>A (p.Gly197Arg) rs113994207
NM_004974.4(KCNA2):c.193C>T (p.Arg65Ter) rs763353895
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter) rs1064794764
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005045.4(RELN):c.1001G>A (p.Arg334His) rs146922726
NM_005045.4(RELN):c.1108G>C (p.Gly370Arg) rs143050366
NM_005045.4(RELN):c.8005G>A (p.Val2669Ile) rs375985673
NM_005045.4(RELN):c.8843+3A>C rs200124755
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp) rs45568335
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) rs121909254
NM_005055.5(RAPSN):c.821G>A (p.Ser274Asn) rs140996453
NM_005076.5(CNTN2):c.1405C>A (p.Pro469Thr) rs147693556
NM_005327.5(HADH):c.662G>A (p.Arg221His) rs76476980
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005476.7(GNE):c.1571C>T (p.Ala524Val) rs764698870
NM_005476.7(GNE):c.1760T>C (p.Ile587Thr) rs748949603
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) rs61736659
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) rs1057517843
NM_006019.4(TCIRG1):c.117+4A>T rs751881962
NM_006019.4(TCIRG1):c.1213G>C (p.Gly405Arg) rs137853150
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr) rs140963213
NM_006031.6(PCNT):c.5975C>T (p.Pro1992Leu) rs758977418
NM_006147.4(IRF6):c.16C>T (p.Arg6Cys) rs28942094
NM_006214.4(PHYH):c.135-2A>G rs201578674
NM_006231.3(POLE):c.1270C>G (p.Leu424Val) rs483352909
NM_006231.3(POLE):c.4450A>C (p.Ile1484Leu) rs772734618
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064
NM_006231.4(POLE):c.5382C>G (p.Ile1794Met) rs368364666
NM_006261.4(PROP1):c.52G>A (p.Gly18Ser) rs775353413
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502
NM_006348.5(COG5):c.298C>T (p.Leu100Phe) rs150351852
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg) rs137973321
NM_006397.2(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) rs119482083
NM_006432.4(NPC2):c.58G>T (p.Glu20Ter) rs80358260
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392
NM_006642.5(SDCCAG8):c.572C>T (p.Thr191Ile) rs150070966
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) rs587782527
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.319+2T>A rs587782401
NM_007194.4(CHEK2):c.444+1G>A rs121908698
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) rs587781379
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194
NM_007255.3(B4GALT7):c.277C>T (p.His93Tyr) rs142476892
NM_007294.3(BRCA1):c.4096+3A>G rs80358015
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter) rs80356885
NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His) rs1265352633
NM_007294.4(BRCA1):c.4675+1G>A rs80358044
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967
NM_007294.4(BRCA1):c.4987-20A>G rs80358035
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del) rs80358344
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln) rs397507239
NM_007294.4(BRCA1):c.5310G>A (p.Gly1770=) rs273901761
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033
NM_007294.4(BRCA1):c.5406+8T>C rs55946644
NM_007294.4(BRCA1):c.811G>A (p.Val271Met) rs80357244
NM_007317.3(KIF22):c.443C>T (p.Pro148Leu) rs193922921
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys) rs1554770667
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_012144.4(DNAI1):c.1644G>A (p.Trp548Ter) rs200669099
NM_012301.4(MAGI2):c.2131C>A (p.Pro711Thr) rs144078604
NM_012414.4(RAB3GAP2):c.2290C>T (p.Leu764Phe) rs139337049
NM_013339.4(ALG6):c.257+5G>A rs199682486
NM_013382.5(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn) rs371839994
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala) rs148453565
NM_014141.6(CNTNAP2):c.3758T>C (p.Ile1253Thr) rs767821521
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893
NM_014159.7(SETD2):c.1414C>T (p.Arg472Cys) rs771203643
NM_014159.7(SETD2):c.1885A>G (p.Lys629Glu) rs145650484
NM_014159.7(SETD2):c.2155A>G (p.Asn719Asp) rs115859828
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp) rs786205227
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353
NM_014324.6(AMACR):c.844G>C (p.Glu282Gln) rs181341030
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter) rs886041949
NM_014363.6(SACS):c.9562T>C (p.Phe3188Leu) rs137905181
NM_014625.4(NPHS2):c.868G>A (p.Val290Met) rs200482683
NM_014646.2(LPIN2):c.2621G>T (p.Cys874Phe) rs201160155
NM_014795.4(ZEB2):c.1876G>A (p.Gly626Arg) rs727504224
NM_014795.4(ZEB2):c.2084G>A (p.Arg695Gln) rs147693839
NM_014855.3(AP5Z1):c.1573A>C (p.Lys525Gln) rs186003800
NM_014874.3(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014915.2(ANKRD26):c.153C>G (p.His51Gln) rs139049098
NM_014946.3(SPAST):c.1685G>A (p.Arg562Gln) rs863224923
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu) rs148604312
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg) rs146873848
NM_015087.5(SPART):c.1172A>G (p.Asp391Gly) rs148833652
NM_015120.4(ALMS1):c.11356A>G (p.Ile3786Val) rs201819880
NM_015120.4(ALMS1):c.11956A>G (p.Ile3986Val) rs201728850
NM_015120.4(ALMS1):c.12007C>T (p.Arg4003Trp) rs200897773
NM_015120.4(ALMS1):c.2039A>G (p.Tyr680Cys) rs199573929
NM_015120.4(ALMS1):c.358C>T (p.Gln120Ter) rs751804613
NM_015346.4(ZFYVE26):c.3139+1G>A rs137907310
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266
NM_015627.2(LDLRAP1):c.604_605delinsCA (p.Ser202His) rs386629678
NM_016038.4(SBDS):c.258+2T>C rs113993993
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp) rs376968555
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn) rs181795958
NM_016327.3(UPB1):c.105-2A>G rs138081800
NM_016327.3(UPB1):c.917-1G>A rs143493067
NM_016327.3(UPB1):c.977G>A (p.Arg326Gln) rs118163237
NM_017636.4(TRPM4):c.286C>T (p.Arg96Ter) rs148855956
NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe) rs144405450
NM_017849.3(TMEM127):c.281G>A (p.Arg94Gln) rs746831347
NM_017890.4(VPS13B):c.10687G>A (p.Gly3563Arg) rs150767461
NM_017890.4(VPS13B):c.1529G>A (p.Arg510His) rs771667880
NM_017890.4(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319
NM_017890.4(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109
NM_017890.4(VPS13B):c.3811A>T (p.Thr1271Ser) rs142674934
NM_017890.4(VPS13B):c.4471G>T (p.Glu1491Ter) rs120074151
NM_017890.4(VPS13B):c.5681C>T (p.Thr1894Met) rs117148013
NM_017890.4(VPS13B):c.5682G>A (p.Thr1894=) rs368851580
NM_017890.4(VPS13B):c.6491A>G (p.Asn2164Ser) rs142248228
NM_017890.4(VPS13B):c.6732+1G>A rs180177366
NM_017890.4(VPS13B):c.6802G>T (p.Glu2268Ter) rs146960401
NM_017890.4(VPS13B):c.7322+2T>C rs1563908020
NM_017890.4(VPS13B):c.7787C>T (p.Ser2596Phe) rs145208175
NM_017890.4(VPS13B):c.8645C>T (p.Pro2882Leu) rs145890213
NM_017890.4(VPS13B):c.9667C>T (p.Arg3223Trp) rs149842139
NM_017950.4(CCDC40):c.961C>T (p.Arg321Ter) rs754867753
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu) rs141715950
NM_018328.4(MBD5):c.236G>A (p.Gly79Glu) rs34995577
NM_018328.4(MBD5):c.3539A>T (p.Asp1180Val) rs752035001
NM_018328.4(MBD5):c.4158C>T (p.Gly1386=) rs543329958
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter) rs1131691616
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077
NM_018979.4(WNK1):c.865T>C (p.Ser289Pro) rs200234585
NM_019040.5(ELP4):c.*6411T>A rs121907922
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala) rs143389605
NM_020366.3(RPGRIP1):c.1753C>T (p.Pro585Ser) rs147586703
NM_020366.3(RPGRIP1):c.95T>A (p.Met32Lys) rs200510462
NM_020708.5(SLC12A5):c.2439G>A (p.Met813Ile) rs200191107
NM_020708.5(SLC12A5):c.2452C>G (p.Pro818Ala) rs201268862
NM_020822.3(KCNT1):c.889G>A (p.Glu297Lys) rs146070496
NM_021922.2(FANCE):c.52C>T (p.Pro18Ser) rs552241929
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418
NM_022041.3(GAN):c.851+1G>A rs747291494
NM_022051.2(EGLN1):c.287C>T (p.Ala96Val) rs113401862
NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu) rs201756175
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp) rs141030969
NM_022356.3(P3H1):c.1504G>C (p.Gly502Arg) rs139259804
NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175
NM_024306.5(FA2H):c.232G>A (p.Glu78Lys) rs527421775
NM_024312.5(GNPTAB):c.1514G>A (p.Cys505Tyr) rs281864980
NM_024312.5(GNPTAB):c.2715+2T>G rs281865001
NM_024422.6(DSC2):c.2498G>A (p.Arg833His) rs370325533
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr) rs77959215
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.5(BBS1):c.724-1G>C rs748523268
NM_024675.3(PALB2):c.2834+1G>T rs587776419
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter) rs758732081
NM_024753.5(TTC21B):c.1697A>G (p.His566Arg) rs146320075
NM_024757.5(EHMT1):c.1081G>A (p.Gly361Ser) rs143891279
NM_024757.5(EHMT1):c.1140G>C (p.Glu380Asp) rs368995503
NM_024757.5(EHMT1):c.1433G>A (p.Gly478Glu) rs376787713
NM_024757.5(EHMT1):c.1814C>T (p.Pro605Leu) rs373640528
NM_024996.5(GFM1):c.622G>A (p.Glu208Lys) rs191462023
NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe) rs148663672
NM_025216.3(WNT10A):c.382C>T (p.Arg128Ter) rs762739726
NM_030621.4(DICER1):c.5441C>T (p.Ser1814Leu) rs1060503625
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173
NM_031263.4(HNRNPK):c.257G>A (p.Arg86His) rs863223403
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys) rs886041876
NM_031885.4(BBS2):c.1237C>T (p.Arg413Ter) rs147030232
NM_031885.4(BBS2):c.534+1G>T rs773862084
NM_031885.4(BBS2):c.72C>G (p.Tyr24Ter) rs121908175
NM_032043.2(BRIP1):c.2576-1G>A rs587782539
NM_032043.2(BRIP1):c.3149C>A (p.Thr1050Asn) rs373040333
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys) rs542698396
NM_032193.4(RNASEH2C):c.205C>T rs78635798
NM_032682.6(FOXP1):c.1541G>A (p.Arg514His) rs797045586
NM_032957.4(RTEL1):c.2686C>T (p.Arg896Ter) rs961593162
NM_032957.4(RTEL1):c.3059C>A (p.Pro1020His) rs373210484
NM_033087.4(ALG2):c.475A>G (p.Ile159Val) rs146770430
NM_033305.3(VPS13A):c.2201G>A (p.Ser734Asn) rs117320408
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) rs41307461
NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg) rs104886303
NM_033517.1(SHANK3):c.2908G>T (p.Ala970Ser) rs530255181
NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter) rs756859126
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn) rs121908638
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388
NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser) rs139928148
NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter) rs758304537
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter) rs398124475
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser) rs146789444
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg) rs149781976
NM_138694.4(PKHD1):c.2811G>A (p.Trp937Ter) rs1344820986
NM_138694.4(PKHD1):c.2825G>C (p.Gly942Ala) rs142205860
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715
NM_138694.4(PKHD1):c.7067C>T (p.Pro2356Leu) rs141360909
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261
NM_139011.3(HFE):c.77-2168C>G rs1799945
NM_144612.6(LOXHD1):c.4480C>T rs201587138
NM_144612.6(LOXHD1):c.4714C>T rs75949023
NM_144696.6(AXDND1):c.3032-1907G>A rs74315348
NM_145207.3(SPATA5):c.1912A>G (p.Lys638Glu) rs560475969
NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu) rs145425340
NM_152328.5(ADSS1):c.781G>A (p.Asp261Asn) rs140614802
NM_152383.5(DIS3L2):c.1447C>G (p.Arg483Gly) rs186865544
NM_152383.5(DIS3L2):c.410A>G (p.Tyr137Cys) rs201733073
NM_152383.5(DIS3L2):c.662C>G (p.Thr221Arg) rs201020526
NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter) rs1553941580
NM_152618.3(BBS12):c.2023C>T (p.Arg675Ter) rs752202089
NM_152783.5(D2HGDH):c.517G>A (p.Val173Ile) rs146408017
NM_153026.3(PRICKLE1):c.824C>T (p.Thr275Met) rs559947948
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727
NM_173354.5(SIK1):c.1457C>T (p.Ala486Val) rs369897512
NM_173354.5(SIK1):c.1934G>A (p.Arg645Gln) rs34614061
NM_173354.5(SIK1):c.2243G>A (p.Arg748His) rs375516507
NM_177438.2(DICER1):c.4923T>G (p.Cys1641Trp) rs587778231
NM_177438.2(DICER1):c.5738A>G (p.Lys1913Arg) rs752116341
NM_177550.4(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569
NM_178138.6(LHX3):c.920G>C (p.Arg307Pro) rs182345541
NM_182760.4(SUMF1):c.664G>C (p.Gly222Arg) rs137917233
NM_182914.2(SYNE2):c.3830G>A (p.Arg1277His) rs367549881
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867
NM_183050.4(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233
NM_198053.2(CD247):c.301C>T (p.Gln101Ter) rs55729925
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584
NM_199242.2(UNC13D):c.610A>G (p.Met204Val) rs144722609
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748
NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter) rs1187839124
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val) rs200367454
NM_206933.3(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.3(USH2A):c.2167+5G>A rs771583281
NM_206933.3(USH2A):c.2168-2A>G rs993185407
NM_206933.3(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844
NM_206933.3(USH2A):c.6967C>T (p.Arg2323Ter) rs1485173724
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152
NM_213599.2(ANO5):c.692G>T (p.Gly231Val) rs137854523
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535

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