ClinVar Miner

Variants from CeGaT Praxis fuer Humangenetik Tuebingen with conflicting interpretations

Location: Germany — Primary collection method: clinical testing
Minimum review status of the submission from CeGaT Praxis fuer Humangenetik Tuebingen: Collection method of the submission from CeGaT Praxis fuer Humangenetik Tuebingen:
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 Variants with at least 2 submissions 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 kind of conflict
3453 785 12 323 885 28 252 1294

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
CeGaT Praxis fuer Humangenetik Tuebingen pathogenic likely pathogenic uncertain significance likely benign benign association protective risk factor other
pathogenic 1 0 0 0 0 0 0 0 0
likely pathogenic 133 0 70 10 5 0 0 5 0
uncertain significance 98 90 8 662 302 0 1 13 5
likely benign 13 4 155 3 190 1 0 3 1

Submitter to submitter summary #

Total submitters: 135
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
Invitae 0 451 0 144 393 4 42 583
GeneDx 0 398 0 120 344 0 59 523
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 354 0 85 199 4 37 325
Illumina Clinical Services Laboratory,Illumina 0 319 0 11 186 0 19 215
Ambry Genetics 0 194 0 48 129 0 17 194
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 95 0 26 88 0 13 127
PreventionGenetics 0 69 0 27 93 0 5 125
OMIM 0 9 0 50 1 17 56 116
Athena Diagnostics Inc 0 64 0 18 87 0 7 112
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 61 0 37 47 0 12 96
Genetic Services Laboratory, University of Chicago 0 106 0 13 63 0 12 88
Integrated Genetics/Laboratory Corporation of America 0 55 2 27 44 0 13 86
Color 0 62 0 26 51 0 7 84
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 55 0 8 53 0 8 69
Biesecker Lab/Human Development Section,National Institutes of Health 0 10 7 6 29 0 3 45
GeneReviews 0 3 2 23 3 0 15 43
Counsyl 0 97 0 12 11 0 19 42
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 14 0 13 25 0 1 39
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 19 0 12 24 0 1 37
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 53 0 13 15 0 7 35
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 10 0 9 15 0 3 27
Quest Diagnostics Nichols Institute San Juan Capistrano 0 27 0 14 7 0 5 26
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 13 0 10 14 0 0 24
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 19 0 7 11 0 2 20
Department of Pathology and Laboratory Medicine,Sinai Health System 0 6 0 18 1 0 0 19
CSER_CC_NCGL; University of Washington Medical Center 0 18 0 1 13 0 2 16
Fulgent Genetics 0 126 0 11 1 0 3 15
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 3 0 12 3 0 0 15
True Health Diagnostics 0 30 0 2 10 0 3 15
Baylor Miraca Genetics Laboratories, 0 1 0 9 0 0 4 13
Michigan Medical Genetics Laboratories,University of Michigan 0 1 0 11 2 0 0 13
NIHR Bioresource Rare Diseases,University of Cambridge 0 8 0 0 1 0 12 13
Sharing Clinical Reports Project (SCRP) 0 1 0 9 2 0 0 11
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 8 0 1 3 0 7 11
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 0 5 0 3 1 0 7 11
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 17 0 2 0 2 7 11
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 16 0 0 8 0 3 11
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 4 0 2 9 0 0 11
Mendelics 0 29 0 1 6 0 3 10
Breast Cancer Information Core (BIC) (BRCA2) 0 9 0 5 5 0 0 10
University of Washington Department of Laboratory Medicine,University of Washington 0 7 0 3 3 0 3 9
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 1 0 8 0 0 0 8
Wong Mito Lab, Molecular and Human Genetics,Baylor College of Medicine 0 2 0 2 4 0 1 7
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 5 0 1 3 0 2 6
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 1 0 0 4 1 1 6
Center for Human Genetics, Inc 0 9 0 0 5 0 0 5
RettBASE 0 2 0 1 3 0 1 5
Pathway Genomics 0 5 0 2 1 0 2 5
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 1 4 0 0 5
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 0 0 0 1 0 0 4 5
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 0 1 0 3 0 0 1 4
Willoughby Group, Queen's University Belfast 0 0 0 0 1 0 3 4
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 4 0 2 2 0 0 4
Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research 0 0 0 1 1 0 1 3
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 0 0 0 3 3
Blueprint Genetics, 0 3 0 0 0 2 1 3
PXE International 0 0 0 0 0 0 3 3
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 0 0 1 0 1 1 3
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 8 0 0 1 0 2 3
Division of Human Genetics,Children's Hospital of Philadelphia 0 5 0 2 0 0 1 3
GeneKor MSA 0 20 0 0 1 0 2 3
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 5 0 0 0 0 3 3
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 3 0 0 0 0 3 3
Centre for Genomic and Experimental Medicine,University of Edinburgh 0 0 0 0 1 0 2 3
Vantari Genetics 0 3 0 1 2 0 0 3
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 10 0 0 3 0 0 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 2 0 0 1 3
Undiagnosed Diseases Network,NIH 0 1 0 1 0 0 2 3
ARUP Institute,ARUP Laboratories 0 0 0 2 0 0 1 3
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 4 0 1 0 0 2 3
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 1 0 0 3 0 0 3
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 0 0 0 2 0 0 1 3
Institute for Human Genetics,University Clinic Freiburg 0 0 0 0 0 0 2 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 1 0 2 0 0 0 2
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 0 0 0 2 2
Breast Cancer Information Core (BIC) (BRCA1) 0 4 0 0 2 0 0 2
Wellcome Centre for Mitochondrial Research,Newcastle University 0 0 0 1 0 0 1 2
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 1 1 0 0 0 2
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 0 0 2 0 0 2
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 0 2 0 0 0 2
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 1 0 0 1 2
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 0 0 0 1 0 0 1 2
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 6 0 0 2 0 0 2
Phosphorus, Inc. 0 0 0 0 2 0 0 2
SIB Swiss Institute of Bioinformatics 0 1 0 2 0 0 0 2
Department of Pathology and Molecular Medicine,Queen's University 0 1 0 2 0 0 0 2
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 0 0 2 0 0 0 2
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 0 0 1 0 1 2
ClinGen Hearing Loss Variant Curation Expert Panel, 0 0 0 1 1 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 8 0 0 1 0 0 1
Institute of Human Genetics,Cologne University 0 1 0 0 0 0 1 1
Molecular Vision Laboratory 0 0 0 0 0 1 0 1
Endocrinology Clinic, Seth G.S. Medical College 0 0 0 0 0 0 1 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 0 0 0 0 0 1 1
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 5 0 0 0 0 1 1
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 1 1
GenMed Metabolism Lab 0 0 0 0 0 0 1 1
PALB2 database 0 1 0 1 0 0 0 1
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 0 0 0 0 0 0 1 1
Demyelinating Disease Laboratories, VA Medical Center and University of Tennessee 0 0 0 0 0 0 1 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 0 0 0 0 0 1 1
UCLA Clinical Genomics Center, UCLA 0 0 0 0 0 0 1 1
Center for Medical Genetics Ghent,University of Ghent 0 0 0 1 0 0 0 1
Translational Genetics in Neurodegenerative disease,Karolinska Institutet 0 0 0 1 0 0 0 1
Department of Neurology, University Hospital of Strasbourg 0 0 0 0 0 0 1 1
University of Washington Center for Mendelian Genomics,University of Washington 0 0 0 0 0 0 1 1
Tgen's Center For Rare Childhood Disorders,Translational Genomics Research Institute (TGEN) 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology 0 1 0 1 0 0 0 1
DST/NWU Preclinical Drug Development Platform,North-West University 0 0 0 0 1 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 1 0 0 0 1
Medical Genetics,University of Parma 0 0 0 1 0 0 0 1
Medical Research Institute,Tokyo Medical and Dental University 0 0 0 0 0 0 1 1
Neurogenetics group,VIB, Antwerp, Belgium 0 0 0 0 0 0 1 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 0 0 0 1 1
Rui Chen Lab,Baylor College of Medicine 0 0 0 0 0 0 1 1
Bioinformatics dept.,Datar Cancer Genetics Limited, India 0 0 0 0 0 0 1 1
Neuromuscular disorders lab,University of Helsinki 0 0 0 1 0 0 0 1
Universitätsklinikum Salzburg,Universitätskinderklinik 0 0 0 0 0 0 1 1
Beijing Municipal Key Laboratory,Capital Institute of Pediatrics 0 0 0 0 0 1 0 1
Center for Statistical Genetics,Baylor College of Medicine 0 0 0 0 1 0 0 1
Department of Medical Genetics,University Hospital of North Norway 0 1 0 1 0 0 0 1
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 0 0 1 0 0 0 1
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital 0 0 0 0 1 0 0 1
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 0 4 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 2 0 1 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 3 0 0 0 0 1 1
Division of Hearing and Balance Research,National Hospital Organization Tokyo Medical Center 0 0 0 0 0 0 1 1
Dan Cohn Lab,University Of California Los Angeles 0 0 0 0 0 0 1 1
Schule lab,Hertie Institute for Clinical Brain Research 0 0 0 0 1 0 0 1
Laboratory of Medical Genetics,INSERM 0 0 0 1 0 0 0 1
Center of Medical Genetics,Central South University 0 0 0 0 0 1 0 1
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 0 0 1 0 0 1
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 0 0 0 0 0 0 1 1
Dr. Alfred Bastarche Laboratory,Dr. Georges L. Dumont University Hospital Centre 0 0 0 0 0 0 1 1
Gharavi Laboratory,Columbia University 0 2 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 1294
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.199T>C (p.Tyr67His) rs121434280
NM_000018.3(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617
NM_000033.3(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.3(ABCD1):c.258C>T (p.Val86=) rs200660869
NM_000033.3(ABCD1):c.757C>G (p.Leu253Val) rs150151955
NM_000036.2(AMPD1):c.1029G>T (p.Met343Ile) rs61752478
NM_000036.2(AMPD1):c.242C>T (p.Pro81Leu) rs61752479
NM_000038.5(APC):c.1240C>T (p.Arg414Cys) rs137854567
NM_000038.5(APC):c.2958T>C (p.Tyr986=) rs746581330
NM_000038.5(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000038.5(APC):c.4326T>A (p.Pro1442=) rs67622085
NM_000038.5(APC):c.5265G>A (p.Ala1755=) rs34506289
NM_000038.5(APC):c.7036C>T (p.Pro2346Ser) rs200756935
NM_000038.5(APC):c.7514G>A (p.Arg2505Gln) rs147549623
NM_000043.5(FAS):c.578A>G (p.Lys193Arg) rs150489856
NM_000051.3(ATM):c.1066-6T>G rs201686625
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.146C>G (p.Ser49Cys) rs1800054
NM_000051.3(ATM):c.162T>C (p.Tyr54=) rs3218690
NM_000051.3(ATM):c.1703G>T (p.Arg568Ile) rs200381392
NM_000051.3(ATM):c.1744T>C (p.Phe582Leu) rs2235006
NM_000051.3(ATM):c.1898+2T>G rs587782124
NM_000051.3(ATM):c.2181C>T (p.Gly727=) rs876658836
NM_000051.3(ATM):c.2572T>C (p.Phe858Leu) rs1800056
NM_000051.3(ATM):c.2932T>C (p.Ser978Pro) rs139552233
NM_000051.3(ATM):c.3016A>G (p.Met1006Val) rs139893395
NM_000051.3(ATM):c.3218dupT (p.Phe1074Ilefs) rs876660741
NM_000051.3(ATM):c.331+5G>A rs752135143
NM_000051.3(ATM):c.4492T>C (p.Leu1498=) rs748949478
NM_000051.3(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.3(ATM):c.496+4T>C rs587781375
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.5793T>C (p.Ala1931=) rs3092910
NM_000051.3(ATM):c.6067G>A (p.Gly2023Arg) rs11212587
NM_000051.3(ATM):c.6447T>C (p.Tyr2149=) rs1057519167
NM_000051.3(ATM):c.6860G>C (p.Gly2287Ala) rs1800061
NM_000051.3(ATM):c.7187C>G (p.Thr2396Ser) rs370559102
NM_000051.3(ATM):c.7390T>C (p.Cys2464Arg) rs55801750
NM_000051.3(ATM):c.7456C>T (p.Arg2486Ter) rs587779865
NM_000051.3(ATM):c.7475T>G (p.Leu2492Arg) rs56399857
NM_000051.3(ATM):c.7816A>G (p.Ile2606Val) rs376824528
NM_000052.6(ATP7A):c.1009G>A (p.Ala337Thr) rs138039591
NM_000052.6(ATP7A):c.1893G>C (p.Leu631Phe) rs372898963
NM_000052.6(ATP7A):c.4389T>C (p.Ser1463=) rs371939448
NM_000053.3(ATP7B):c.1543+13C>T rs200171850
NM_000053.3(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299
NM_000053.3(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000053.3(ATP7B):c.3557-6C>T rs140708492
NM_000053.3(ATP7B):c.4058G>A (p.Trp1353Ter) rs193922110
NM_000053.3(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972
NM_000059.3(BRCA2):c.10176delA (p.Glu3393Asnfs) rs80359258
NM_000059.3(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475
NM_000059.3(BRCA2):c.1744A>G (p.Thr582Ala) rs80358457
NM_000059.3(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.3(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710
NM_000059.3(BRCA2):c.1910-6G>A rs1555282344
NM_000059.3(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.3(BRCA2):c.223G>C (p.Ala75Pro) rs28897701
NM_000059.3(BRCA2):c.2484T>C (p.Tyr828=) rs45619134
NM_000059.3(BRCA2):c.2623G>A (p.Val875Ile) rs587782582
NM_000059.3(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716
NM_000059.3(BRCA2):c.2883G>A (p.Gln961=) rs11571655
NM_000059.3(BRCA2):c.3392G>A (p.Arg1131Lys) rs1555283214
NM_000059.3(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.3(BRCA2):c.4315G>A (p.Ala1439Thr) rs80358666
NM_000059.3(BRCA2):c.4464_4465delCA (p.His1488Glnfs) rs397507720
NM_000059.3(BRCA2):c.4686A>G (p.Gln1562=) rs28897730
NM_000059.3(BRCA2):c.4928T>C (p.Val1643Ala) rs28897731
NM_000059.3(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.3(BRCA2):c.5869A>G (p.Ile1957Val) rs80358817
NM_000059.3(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.3(BRCA2):c.7008-62A>G rs76584943
NM_000059.3(BRCA2):c.7056T>A (p.Pro2352=) rs276174888
NM_000059.3(BRCA2):c.7413A>G (p.Thr2471=) rs138067005
NM_000059.3(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749
NM_000059.3(BRCA2):c.9789_9790del (p.Asn3264Leufs) rs886040851
NM_000070.2(CAPN3):c.1001A>T (p.His334Leu) rs749863676
NM_000070.2(CAPN3):c.1746-20C>G rs201892814
NM_000070.2(CAPN3):c.964T>C (p.Tyr322His) rs149591108
NM_000079.3(CHRNA1):c.723C>T (p.Pro241=) rs189442556
NM_000081.3(LYST):c.-5C>T rs141317482
NM_000081.3(LYST):c.6482A>C (p.Glu2161Ala) rs147756847
NM_000082.3(ERCC8):c.839C>A (p.Thr280Lys) rs61754098
NM_000083.2(CLCN1):c.1012C>T (p.Arg338Ter) rs759761559
NM_000083.2(CLCN1):c.1392C>T (p.Phe464=) rs201919331
NM_000083.2(CLCN1):c.2364+10G>A rs201855153
NM_000083.2(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000088.3(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465
NM_000093.4(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.4(COL5A1):c.279G>A (p.Ala93=) rs145090868
NM_000110.3(DPYD):c.1601G>A (p.Ser534Asn) rs1801158
NM_000124.3(ERCC6):c.3650T>G (p.Phe1217Cys) rs61760166
NM_000135.2(FANCA):c.1830A>G (p.Ala610=) rs1800338
NM_000135.3(FANCA):c.1047G>A (p.Ala349=) rs144900606
NM_000136.2(FANCC):c.178G>A (p.Val60Ile) rs138629441
NM_000136.2(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.2(FANCC):c.77C>T (p.Ser26Phe) rs1800361
NM_000138.4(FBN1):c.4095C>T (p.Asp1365=) rs375402043
NM_000138.4(FBN1):c.4998C>G (p.Thr1666=) rs141925790
NM_000138.4(FBN1):c.5330G>A (p.Cys1777Tyr) rs1060501069
NM_000138.4(FBN1):c.7056C>T (p.Ser2352=) rs149697299
NM_000138.4(FBN1):c.7204+7C>G rs371763964
NM_000141.4(FGFR2):c.159G>A (p.Ala53=) rs1047102
NM_000152.4(GAA):c.1593C>T (p.Asp531=) rs138732016
NM_000153.3(GALC):c.1158_1161+6delCATGGTAAAC rs759068540
NM_000153.3(GALC):c.956A>G (p.Tyr319Cys) rs183105855
NM_000157.3(GBA):c.1223C>T (p.Thr408Met) rs75548401
NM_000157.3(GBA):c.1448T>C rs421016
NM_000158.3(GBE1):c.2017G>A (p.Ala673Thr) rs193074572
NM_000161.2(GCH1):c.206C>T (p.Pro69Leu) rs56127440
NM_000161.2(GCH1):c.400G>A (p.Asp134Asn) rs1353623780
NM_000161.2(GCH1):c.68C>T (p.Pro23Leu) rs41298432
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000169.2(GLA):c.945C>T (p.Asp315=) rs151208856
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000179.2(MSH6):c.241G>A (p.Ala81Thr) rs587779239
NM_000179.2(MSH6):c.2561A>T (p.Lys854Met) rs34374438
NM_000179.2(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875
NM_000179.2(MSH6):c.3300G>A (p.Thr1100=) rs540252208
NM_000179.2(MSH6):c.884A>G (p.Lys295Arg) rs267608051
NM_000180.3(GUCY2D):c.129_134delTCTGCT (p.Leu44_Leu45del) rs552184470
NM_000180.3(GUCY2D):c.1537C>T (p.Leu513Phe) rs61749682
NM_000182.4(HADHA):c.2107G>A (p.Gly703Arg) rs200438844
NM_000202.7(IDS):c.754G>A (p.Asp252Asn) rs146458524
NM_000218.2(KCNQ1):c.328G>A (p.Val110Ile) rs199472677
NM_000219.5(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000238.3(KCNH2):c.526C>T (p.Arg176Trp) rs36210422
NM_000243.2(MEFV):c.1105C>T (p.Pro369Ser) rs11466023
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr) rs11466045
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.2230G>T rs61732874
NM_000243.2(MEFV):c.442G>C (p.Glu148Gln) rs3743930
NM_000243.2(MEFV):c.443A>T (p.Glu148Val) rs104895076
NM_000248.3(MITF):c.861A>G (p.Glu287=) rs137904015
NM_000249.3(MLH1):c.1852A>G (p.Lys618Glu) rs35001569
NM_000249.3(MLH1):c.191A>G (p.Asn64Ser) rs63750952
NM_000249.3(MLH1):c.2146G>A (p.Val716Met) rs35831931
NM_000250.1(MPO):c.1555_1568delATGGAACCCAACCC (p.Met519Profs) rs536522394
NM_000251.2(MSH2):c.1275A>G (p.Glu425=) rs63751650
NM_000251.2(MSH2):c.1787A>G (p.Asn596Ser) rs41295288
NM_000253.3(MTTP):c.2673C>T (p.Ser891=) rs115222767
NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=) rs376041792
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380
NM_000256.3(MYBPC3):c.3332_3335dupAGTG (p.Trp1112Terfs) rs730880337
NM_000256.3(MYBPC3):c.3627G>A (p.Lys1209=) rs1555120261
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His) rs730880624
NM_000257.3(MYH7):c.2349C>T (p.Arg783=) rs139882431
NM_000257.3(MYH7):c.2890G>C (p.Val964Leu) rs45496496
NM_000257.3(MYH7):c.3960G>A (p.Glu1320=) rs147797612
NM_000257.3(MYH7):c.5690G>A (p.Arg1897His) rs727503240
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) rs45611033
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831
NM_000257.4(MYH7):c.3853+7C>T rs45467397
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) rs141764279
NM_000258.2(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000260.3(MYO7A):c.2886G>C (p.Gln962His) rs200641606
NM_000260.3(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178
NM_000260.3(MYO7A):c.3978C>T (p.Cys1326=) rs111033376
NM_000260.3(MYO7A):c.448C>A (p.Arg150=) rs121965079
NM_000263.3(NAGLU):c.889C>T (p.Arg297Ter) rs104894592
NM_000264.4(PTCH1):c.324A>G (p.Ile108Met) rs144182921
NM_000267.3(NF1):c.79C>T (p.Gln27Ter) rs1060500363
NM_000271.4(NPC1):c.2972_2973delAG (p.Gln991Argfs) rs756815030
NM_000271.4(NPC1):c.665A>G (p.Asn222Ser) rs55680026
NM_000274.3(OAT):c.1311G>T (p.Leu437Phe) rs1800456
NM_000275.2(OCA2):c.1441G>A (p.Ala481Thr) rs74653330
NM_000283.3(PDE6B):c.655T>C (p.Tyr219His) rs62295357
NM_000283.3(PDE6B):c.928-9_940dup rs1553809300
NM_000286.2(PEX12):c.959C>T (p.Ser320Phe) rs28936697
NM_000288.3(PEX7):c.875T>A (p.Leu292Ter) rs1805137
NM_000296.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481
NM_000302.3(PLOD1):c.1203-3C>T rs376288573
NM_000302.3(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756
NM_000302.3(PLOD1):c.555G>T (p.Lys185Asn) rs142978362
NM_000303.2(PMM2):c.91T>C (p.Phe31Leu) rs749720760
NM_000304.3(PMP22):c.152A>G (p.His51Arg) rs368908933
NM_000304.3(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000314.6(PTEN):c.132C>T (p.Gly44=) rs150651961
NM_000314.7(PTEN):c.-1084C>T rs538728843
NM_000321.2(RB1):c.1707A>G (p.Leu569=) rs3092895
NM_000326.4(RLBP1):c.141+6G>A rs181321141
NM_000328.2(RPGR):c.732G>A (p.Lys244=) rs62638654
NM_000329.2(RPE65):c.130C>T (p.Arg44Ter) rs368088025
NM_000329.2(RPE65):c.304G>T (p.Glu102Ter) rs62642584
NM_000331.5(SAA1):c.209C>T (p.Ala70Val) rs1136743
NM_000334.4(SCN4A):c.1100+7G>A rs200770684
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg) rs187401185
NM_000334.4(SCN4A):c.1902C>T (p.Pro634=)
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser) rs201148948
NM_000334.4(SCN4A):c.2697G>A (p.Leu899=) rs199827271
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile) rs41280110
NM_000334.4(SCN4A):c.403A>C (p.Met135Leu) rs148028364
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg) rs199676994
NM_000335.4(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031
NM_000350.2(ABCA4):c.1018T>C (p.Tyr340His) rs61748548
NM_000350.2(ABCA4):c.1268A>G (p.His423Arg) rs3112831
NM_000350.2(ABCA4):c.1532G>A (p.Arg511His) rs140482171
NM_000350.2(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.2(ABCA4):c.1654G>A (p.Val552Ile) rs145525174
NM_000350.2(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559
NM_000350.2(ABCA4):c.1928T>G (p.Val643Gly) rs61754024
NM_000350.2(ABCA4):c.2023G>A (p.Val675Ile) rs575453437
NM_000350.2(ABCA4):c.2588-12C>G rs61751396
NM_000350.2(ABCA4):c.2948C>T (p.Thr983Ile) rs61752411
NM_000350.2(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.2(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111
NM_000350.2(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943
NM_000350.2(ABCA4):c.5018+2T>C rs61750562
NM_000350.2(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000350.2(ABCA4):c.5693G>A (p.Arg1898His) rs1800552
NM_000350.2(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473
NM_000350.2(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555
NM_000350.2(ABCA4):c.656G>C (p.Arg219Thr) rs61748537
NM_000359.2(TGM1):c.125C>A (p.Ser42Tyr) rs41295338
NM_000363.4(TNNI3):c.151-6C>G rs377258542
NM_000368.4(TSC1):c.1977G>A (p.Ala659=) rs35958226
NM_000368.4(TSC1):c.3373T>C (p.Leu1125=) rs1157060310
NM_000392.5(ABCC2):c.2743C>T (p.Arg915Cys) rs112758556
NM_000392.5(ABCC2):c.842G>A (p.Ser281Asn) rs56131651
NM_000393.4(COL5A2):c.403-3T>C rs369733690
NM_000399.3(EGR2):c.832G>A (p.Ala278Thr) rs565355765
NM_000406.2(GNRHR):c.317A>G (p.Gln106Arg) rs104893836
NM_000414.3(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096
NM_000425.4(L1CAM):c.1993C>G (p.Leu665Val) rs199592861
NM_000426.3(LAMA2):c.1308T>G (p.Gly436=) rs41285286
NM_000426.3(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184
NM_000426.3(LAMA2):c.4717+1G>T rs1131691660
NM_000426.3(LAMA2):c.5530C>T (p.Arg1844Cys) rs56173620
NM_000435.2(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303
NM_000435.2(NOTCH3):c.2182C>T (p.Arg728Cys) rs1057519101
NM_000435.2(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093
NM_000435.2(NOTCH3):c.451C>G (p.Gln151Glu) rs371491165
NM_000441.1(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.1(SLC26A4):c.365dup (p.Ile124Tyrfs) rs786204730
NM_000445.4(PLEC):c.10006C>T (p.Arg3336Cys) rs77303974
NM_000445.4(PLEC):c.10211G>A (p.Arg3404Gln) rs375724891
NM_000445.4(PLEC):c.10840C>T (p.Leu3614=) rs200006106
NM_000445.4(PLEC):c.12075C>T (p.Pro4025=) rs113137721
NM_000445.4(PLEC):c.12324C>T (p.Thr4108=) rs185022156
NM_000445.4(PLEC):c.3669C>T (p.Asp1223=) rs377059744
NM_000445.4(PLEC):c.3966G>A (p.Pro1322=) rs148465219
NM_000445.4(PLEC):c.4679G>A (p.Arg1560Gln) rs201430180
NM_000445.4(PLEC):c.5110G>A (p.Gly1704Ser) rs373952777
NM_000445.4(PLEC):c.5385G>A (p.Leu1795=) rs186670912
NM_000445.4(PLEC):c.5842C>T (p.Arg1948Trp) rs201278290
NM_000445.4(PLEC):c.6381G>A (p.Ala2127=) rs188154081
NM_000445.4(PLEC):c.6675C>T (p.Thr2225=) rs144242254
NM_000445.4(PLEC):c.9414G>A (p.Gly3138=) rs188739870
NM_000452.2(SLC10A2):c.868C>T (p.Pro290Ser) rs56398830
NM_000465.3(BARD1):c.659T>C (p.Leu220Ser) rs138593305
NM_000466.2(PEX1):c.1579A>G (p.Thr527Ala) rs144942544
NM_000478.4(ALPL):c.571G>A (p.Glu191Lys) rs121918007
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000495.4(COL4A5):c.920G>A (p.Gly307Asp) rs104886082
NM_000501.3(ELN):c.930C>T (p.Ala310=) rs147367888
NM_000503.5(EYA1):c.1460C>T (p.Ser487Leu) rs139717960
NM_000520.5(HEXA):c.459+5G>A rs762060470
NM_000520.5(HEXA):c.739C>T (p.Arg247Trp) rs121907970
NM_000521.3(HEXB):c.214C>T (p.Leu72Phe) rs147155126
NM_000531.5(OTC):c.374C>T (p.Thr125Met) rs72554356
NM_000535.6(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.6(PMS2):c.1560G>A (p.Ala520=) rs201167814
NM_000535.6(PMS2):c.1717A>T (p.Thr573Ser) rs63751211
NM_000535.6(PMS2):c.2012C>T (p.Thr671Met) rs587780046
NM_000535.6(PMS2):c.2113G>A (p.Glu705Lys) rs267608161
NM_000535.6(PMS2):c.2356C>A (p.Leu786Met) rs576055272
NM_000535.6(PMS2):c.595C>T (p.Arg199Cys) rs372297364
NM_000535.6(PMS2):c.687T>C (p.Ser229=) rs786201508
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr) rs63751023
NM_000540.2(RYR1):c.10048C>A (p.Arg3350=) rs200355885
NM_000540.2(RYR1):c.10097G>A (p.Arg3366His) rs137932199
NM_000540.2(RYR1):c.10616G>A (p.Arg3539His) rs143987857
NM_000540.2(RYR1):c.10917G>A (p.Thr3639=) rs371952058
NM_000540.2(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339
NM_000540.2(RYR1):c.12283-7C>T rs143861818
NM_000540.2(RYR1):c.1250T>C (p.Leu417Pro) rs764262446
NM_000540.2(RYR1):c.12879G>C (p.Ala4293=) rs193922854
NM_000540.2(RYR1):c.12960_12968dup (p.Leu4323_Thr4324insArgArgLeu) rs193922846
NM_000540.2(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.2(RYR1):c.14505G>A (p.Gly4835=) rs118126378
NM_000540.2(RYR1):c.1453A>G (p.Met485Val) rs147723844
NM_000540.2(RYR1):c.14642T>C (p.Met4881Thr)
NM_000540.2(RYR1):c.2121C>A (p.Gly707=) rs146104858
NM_000540.2(RYR1):c.2919C>T (p.His973=) rs139363830
NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390
NM_000540.2(RYR1):c.4294-4C>T rs368108496
NM_000540.2(RYR1):c.4710C>T (p.Asn1570=) rs763113534
NM_000540.2(RYR1):c.4711A>G (p.Ile1571Val) rs146429605
NM_000540.2(RYR1):c.5036G>A (p.Arg1679His) rs146504767
NM_000540.2(RYR1):c.5671_5673delGAG (p.Glu1891del) rs559371263
NM_000540.2(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895
NM_000540.2(RYR1):c.8112C>T (p.Cys2704=) rs763722972
NM_000540.2(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463
NM_000540.2(RYR1):c.9348G>A (p.Ser3116=) rs763655831
NM_000540.2(RYR1):c.9635A>G (p.Glu3212Gly) rs199738299
NM_000545.6(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242
NM_000546.5(TP53):c.12G>A (p.Pro4=) rs876658274
NM_000546.5(TP53):c.478A>G (p.Met160Val) rs377274728
NM_000546.5(TP53):c.843C>A (p.Asp281Glu) rs1057519984
NM_000546.5(TP53):c.847C>T (p.Arg283Cys) rs149633775
NM_000548.3(TSC2):c.2356C>T (p.Arg786Cys) rs767252128
NM_000548.3(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391
NM_000548.4(TSC2):c.2427C>T (p.Ser809=) rs182849638
NM_000548.4(TSC2):c.251C>T (p.Ala84Val) rs35660529
NM_000548.4(TSC2):c.299C>T (p.Ala100Val) rs375824753
NM_000548.4(TSC2):c.4795G>A (p.Val1599Met) rs772687631
NM_000548.4(TSC2):c.5035G>A (p.Glu1679Lys) rs370404391
NM_000548.4(TSC2):c.708C>T (p.Leu236=) rs756121647
NM_000551.3(VHL):c.183C>G (p.Pro61=) rs63650860
NM_000551.3(VHL):c.74C>T (p.Pro25Leu) rs35460768
NM_000554.5(CRX):c.122G>A (p.Arg41Gln) rs61748436
NM_000554.5(CRX):c.196G>A (p.Val66Ile) rs61748438
NM_000554.5(CRX):c.253-15G>A rs145805694
NM_000593.5(TAP1):c.1231-3C>T rs56366814
NM_000642.2(AGL):c.2522C>T (p.Ser841Phe) rs150441555
NM_000642.2(AGL):c.4331A>G (p.Asn1444Ser) rs143815159
NM_000642.2(AGL):c.82+4A>C rs765098686
NM_000666.2(ACY1):c.1178G>A (p.Arg393His) rs121912701
NM_000702.3(ATP1A2):c.1261C>T (p.Arg421Ter) rs1165052640
NM_000702.3(ATP1A2):c.2066G>A (p.Arg689Gln) rs28933401
NM_000702.3(ATP1A2):c.2130C>T (p.Ala710=) rs374749325
NM_000719.6(CACNA1C):c.202G>A (p.Ala68Thr) rs752000790
NM_000726.4(CACNB4):c.311G>T (p.Cys104Phe) rs1805031
NM_000742.3(CHRNA2):c.140C>T (p.Thr47Met) rs74772771
NM_000744.6(CHRNA4):c.1634C>T (p.Thr545Met) rs121912282
NM_000751.2(CHRND):c.862C>G (p.Gln288Glu) rs41265127
NM_000760.3(CSF3R):c.447G>C (p.Glu149Asp) rs139332126
NM_000784.3(CYP27A1):c.1419C>T (p.Val473=) rs138596741
NM_000784.3(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000806.5(GABRA1):c.1155C>A (p.Gly385=) rs41308303
NM_000806.5(GABRA1):c.441G>T (p.Arg147=) rs190024862
NM_000806.5(GABRA1):c.501G>A (p.Pro167=) rs200750234
NM_000814.5(GABRB3):c.1293G>A (p.Arg431=) rs75914945
NM_000828.4(GRIA3):c.1166A>C (p.Lys389Thr) rs146022384
NM_000833.4(GRIN2A):c.2069C>T (p.Thr690Met) rs1445802934
NM_000833.4(GRIN2A):c.3190A>G (p.Thr1064Ala) rs138809301
NM_000833.4(GRIN2A):c.447G>A (p.Ala149=) rs144464666
NM_000833.4(GRIN2A):c.702C>T (p.Asp234=) rs150208429
NM_000833.4(GRIN2A):c.939C>T (p.Ile313=) rs146867324
NM_000834.3(GRIN2B):c.2065G>A (p.Gly689Ser) rs869312868
NM_000834.4(GRIN2B):c.189C>T (p.Ser63=) rs199707487
NM_000834.4(GRIN2B):c.3981G>A (p.Lys1327=) rs201670483
NM_000843.4(GRM6):c.19G>A (p.Ala7Thr) rs62642053
NM_000875.4(IGF1R):c.1532G>A (p.Arg511Gln) rs33958176
NM_001005741.2(GBA):c.1093G>A (p.Glu365Lys) rs2230288
NM_001005741.2(GBA):c.1192C>T (p.Arg398Ter) rs121908309
NM_001005741.2(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_001005741.2(GBA):c.1227C>A (p.Asn409Lys)
NM_001005741.2(GBA):c.535G>C (p.Asp179His) rs147138516
NM_001005741.2(GBA):c.667T>C (p.Trp223Arg) rs61748906
NM_001005741.2(GBA):c.882T>G (p.His294Gln) rs367968666
NM_001006658.2(CR2):c.1676G>A (p.Gly559Glu) rs143614333
NM_001006658.2(CR2):c.2298G>A (p.Trp766Ter) rs151093663
NM_001006658.2(CR2):c.524C>T (p.Pro175Leu) rs75282758
NM_001018005.1(TPM1):c.842T>C (p.Met281Thr) rs199476321
NM_001018113.2(FANCB):c.1371C>T (p.Val457=) rs149695930
NM_001031717.3(CRELD1):c.985C>T (p.Arg329Cys) rs28942091
NM_001037.4(SCN1B):c.448+193G>A rs66876876
NM_001040113.1(MYH11):c.3918C>T (p.Ala1306=) rs190546350
NM_001040113.1(MYH11):c.429G>A (p.Lys143=) rs200672270
NM_001040616.2(LINS1):c.1479T>C (p.Cys493=) rs144513217
NM_001042492.2(NF1):c.2125T>C (p.Cys709Arg) rs1131691095
NM_001042492.2(NF1):c.7998C>T (p.Asn2666=) rs747307832
NM_001042537.1(SLC9A6):c.1703G>A (p.Arg568Gln) rs146263125
NM_001065.3(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584
NM_001080116.1(LDB3):c.321+1523C>T rs45487699
NM_001080510.4(METTL23):c.569T>C (p.Leu190Pro) rs147321492
NM_001080517.2(SETD5):c.2644C>T (p.Arg882Ter) rs1553635637
NM_001080522.2(CC2D2A):c.351T>G (p.Ser117Arg) rs186264635
NM_001081.3(CUBN):c.2922C>T (p.Phe974=) rs201802902
NM_001083961.1(WDR62):c.3763G>A (p.Val1255Ile) rs146180208
NM_001083961.1(WDR62):c.3946C>G (p.Gln1316Glu) rs35811023
NM_001083961.1(WDR62):c.4159C>A (p.Leu1387Ile) rs147652186
NM_001083961.1(WDR62):c.4312-5T>G rs182467995
NM_001098.2(ACO2):c.220C>G (p.Leu74Val) rs141772938
NM_001104631.1(PDE4D):c.1762A>G (p.Met588Val) rs1554033934
NM_001105243.1(PCDH19):c.1683G>A (p.Pro561=) rs192354176
NM_001105243.1(PCDH19):c.2655C>T (p.Asn885=) rs193148631
NM_001105243.1(PCDH19):c.769G>C (p.Val257Leu) rs201713027
NM_001110792.1(MECP2):c.1200A>C (p.Pro400=) rs797044732
NM_001113378.1(FANCI):c.3853C>T (p.Arg1285Ter) rs121918164
NM_001113378.1(FANCI):c.3947G>A (p.Gly1316Glu) rs138461165
NM_001114086.1(CLIC5):c.803G>A (p.Arg268Gln)
NM_001114636.1(FANCL):c.1111_1114dupATTA (p.Thr372Asnfs) rs759217526
NM_001127221.1(CACNA1A):c.1364G>A (p.Arg455Gln) rs561858384
NM_001127221.1(CACNA1A):c.1398G>A (p.Ser466=) rs374307014
NM_001127221.1(CACNA1A):c.2623T>G (p.Ser875Ala) rs751675055
NM_001127221.1(CACNA1A):c.2958G>C (p.Pro986=) rs749357610
NM_001127221.1(CACNA1A):c.3387G>A (p.Pro1129=) rs370541345
NM_001127221.1(CACNA1A):c.3621A>G (p.Glu1207=) rs201236364
NM_001127221.1(CACNA1A):c.3686C>T (p.Thr1229Met) rs1057518532
NM_001127221.1(CACNA1A):c.6375A>G (p.Ser2125=) rs760994682
NM_001127221.1(CACNA1A):c.6467G>A (p.Arg2156His) rs572722130
NM_001127464.2(ZNF469):c.1020C>T (p.Gly340=) rs273585633
NM_001127464.2(ZNF469):c.10277G>A (p.Arg3426Gln) rs75288466
NM_001127464.2(ZNF469):c.10616G>A (p.Gly3539Glu) rs199610834
NM_001127464.2(ZNF469):c.1471G>A (p.Ala491Thr) rs117555121
NM_001127464.2(ZNF469):c.1615A>T (p.Ser539Cys) rs189476639
NM_001127464.2(ZNF469):c.1994C>T (p.Pro665Leu) rs184583062
NM_001127464.2(ZNF469):c.2699C>T (p.Pro900Leu) rs273585618
NM_001127464.2(ZNF469):c.2717C>T (p.Pro906Leu) rs77951481
NM_001127464.2(ZNF469):c.3866A>G (p.Lys1289Arg) rs772817384
NM_001127464.2(ZNF469):c.4388C>T (p.Thr1463Met) rs375045076
NM_001127464.2(ZNF469):c.4694C>T (p.Ser1565Leu) rs768864900
NM_001127464.2(ZNF469):c.5464C>A (p.Pro1822Thr) rs199932922
NM_001127464.2(ZNF469):c.7469C>A (p.Pro2490His) rs201943633
NM_001127464.2(ZNF469):c.7591A>G (p.Lys2531Glu) rs146789160
NM_001127464.2(ZNF469):c.7747G>A (p.Glu2583Lys) rs281865151
NM_001127464.2(ZNF469):c.9011_9025delTTCCCGGGAACACCC (p.Leu3004_Thr3008del) rs281865162
NM_001127464.2(ZNF469):c.9612G>A (p.Thr3204=) rs573582117
NM_001128227.2(GNE):c.2179G>T (p.Val727Leu) rs121908627
NM_001128425.1(MUTYH):c.1038G>A (p.Ser346=) rs372673338
NM_001128425.1(MUTYH):c.553C>T (p.Arg185Trp) rs750592289
NM_001128849.1(SMARCA4):c.4211T>G (p.Val1404Gly) rs200469979
NM_001130438.2(SPTAN1):c.2610A>G (p.Gln870=) rs138101005
NM_001130438.2(SPTAN1):c.641A>G (p.Lys214Arg) rs760419507
NM_001130987.1(DYSF):c.4261G>A (p.Val1421Ile) rs767049254
NM_001135659.2(NRXN1):c.3321C>T (p.Ser1107=) rs75275592
NM_001141974.2(ATP13A2):c.3361A>T (p.Thr1121Ser) rs41273151
NM_001142386.2(PDK3):c.376A>G (p.Met126Val) rs138321172
NM_001142800.1(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.1(EYS):c.2137+1G>A rs199740930
NM_001142800.1(EYS):c.4985A>T (p.Asp1662Val) rs147641443
NM_001142800.1(EYS):c.5601T>C (p.Ser1867=) rs182322608
NM_001142800.1(EYS):c.6528C>A (p.Tyr2176Ter) rs797045089
NM_001142800.1(EYS):c.8793_8796delATCA (p.Gln2931Hisfs) rs1554163919
NM_001142800.1(EYS):c.977G>A (p.Ser326Asn) rs112822256
NM_001143979.1(NDE1):c.948-5858G>A rs112564682
NM_001148.5(ANK2):c.10118C>T (p.Ala3373Val) rs371358639
NM_001164277.1(SLC37A4):c.467C>T (p.Ala156Val) rs201036248
NM_001165963.1(SCN1A):c.144C>T (p.Gly48=) rs886043534
NM_001165963.1(SCN1A):c.3060C>A (p.His1020Gln) rs150154265
NM_001165963.1(SCN1A):c.3879+5G>A rs796052999
NM_001165963.2(SCN1A):c.3039A>G (p.Gln1013=) rs780391343
NM_001165963.2(SCN1A):c.3698G>A (p.Gly1233Asp) rs1553532470
NM_001166111.1(PNPLA6):c.2389G>A (p.Val797Met) rs145988230
NM_001167734.1(VARS2):c.513G>A (p.Met171Ile) rs141408930
NM_001170535.2(ATAD3A):c.158C>T (p.Thr53Ile) rs1057517687
NM_001170629.1(CHD8):c.1690C>T (p.Arg564Ter) rs1057524677
NM_001171.5(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762
NM_001171.5(ABCC6):c.1990C>T (p.Pro664Ser) rs59002125
NM_001171.5(ABCC6):c.4253G>A (p.Arg1418Gln) rs63751262
NM_001177317.1(SLC34A3):c.929G>A (p.Arg310His) rs200477567
NM_001182.4(ALDH7A1):c.575C>T (p.Thr192Met) rs376917645
NM_001184.3(ATR):c.6394T>G (p.Tyr2132Asp) rs28910273
NM_001184726.1(TCN2):c.280G>A (p.Gly94Ser) rs11557600
NM_001190836.1(DCTN1):c.3620C>T (p.Thr1207Ile) rs72466496
NM_001193416.2(DDX3X):c.1463G>A (p.Arg488His) rs796052235
NM_001197104.1(KMT2A):c.478C>T (p.Arg160Ter) rs1555034779
NM_001199107.1(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520
NM_001199107.1(TBC1D24):c.179G>A (p.Arg60Gln) rs200226466
NM_001199107.1(TBC1D24):c.285C>T (p.Phe95=) rs774354974
NM_001199107.1(TBC1D24):c.702G>A (p.Val234=) rs188739853
NM_001199282.2(LRBA):c.2444A>G (p.Asn815Ser) rs140666848
NM_001204831.2(ANO10):c.980A>G (p.Tyr327Cys) rs146569520
NM_001242896.1(DEPDC5):c.1290C>T (p.Pro430=) rs201202102
NM_001242896.2(DEPDC5):c.2286C>T (p.Asp762=) rs200465447
NM_001242957.2(MAK):c.1715T>C (p.Ile572Thr) rs79544660
NM_001242957.2(MAK):c.975G>A (p.Pro325=) rs145014649
NM_001243133.1(NLRP3):c.592G>A (p.Val198Met) rs121908147
NM_001244008.1(KIF1A):c.206C>T (p.Ser69Leu) rs786200949
NM_001254.4(CDC6):c.597C>G (p.Tyr199Ter) rs200468440
NM_001256850.1(TTN):c.10188A>G (p.Glu3396=) rs183336802
NM_001256850.1(TTN):c.10360+5340C>T rs148105798
NM_001256850.1(TTN):c.11283C>G (p.Thr3761=) rs192857526
NM_001256850.1(TTN):c.15630C>T (p.Val5210=) rs373179717
NM_001256850.1(TTN):c.25721A>G (p.Asn8574Ser) rs146057575
NM_001256850.1(TTN):c.32019_32036del18 (p.Glu10673_Tyr10678del) rs766756026
NM_001256850.1(TTN):c.33723C>T (p.Pro11241=) rs368781863
NM_001256850.1(TTN):c.63159C>T (p.Cys21053=) rs79406408
NM_001256850.1(TTN):c.64207C>T (p.Pro21403Ser) rs55980498
NM_001256850.1(TTN):c.74421G>T (p.Val24807=) rs369875680
NM_001256850.1(TTN):c.74940G>A (p.Thr24980=) rs186402008
NM_001256850.1(TTN):c.76976G>A (p.Arg25659His) rs55850344
NM_001256850.1(TTN):c.77566G>A (p.Gly25856Arg) rs201158906
NM_001256850.1(TTN):c.78593G>A (p.Arg26198Gln) rs376820301
NM_001256850.1(TTN):c.835C>T (p.Arg279Trp) rs138060032
NM_001256850.1(TTN):c.92176C>T (p.Arg30726Cys) rs202064385
NM_001256850.1(TTN):c.95068T>C (p.Cys31690Arg) rs56061641
NM_001267550.2(TTN):c.100446dupA (p.Glu33483Argfs) rs878854281
NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser) rs72648922
NM_001267550.2(TTN):c.41330-7T>A rs373636988
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238
NM_001267550.2(TTN):c.74600_74602delCAA (p.Thr24867del) rs543318580
NM_001267550.2(TTN):c.90764_90766delGAG (p.Gly30255del) rs748912340
NM_001271.3(CHD2):c.3734delA (p.Lys1245Asnfs) rs752940775
NM_001271.3(CHD2):c.4058C>T (p.Pro1353Leu) rs755088564
NM_001271.3(CHD2):c.4278+5T>C rs202174434
NM_001271.3(CHD2):c.568C>T (p.Arg190Cys) rs540770153
NM_001271.3(CHD2):c.630G>T (p.Glu210Asp) rs749147803
NM_001271208.1(NEB):c.1366-4A>G rs886038438
NM_001271208.1(NEB):c.16192G>A (p.Asp5398Asn) rs750810441
NM_001271208.1(NEB):c.169_183dupCTGGCACAGCCAGCA (p.Ala61_Ser62insLeuAlaGlnProAla) rs377452683
NM_001271208.1(NEB):c.24094C>T (p.Arg8032Ter) rs549794342
NM_001271208.1(NEB):c.3778T>C (p.Leu1260=) rs886038452
NM_001271208.1(NEB):c.3858C>A (p.Cys1286Ter) rs1386238241
NM_001271208.1(NEB):c.9139C>A (p.His3047Asn) rs147168910
NM_001271999.1(DOCK7):c.5181A>T (p.Val1727=) rs144604663
NM_001277115.1(DNAH11):c.12632C>T (p.Pro4211Leu) rs142585703
NM_001277115.1(DNAH11):c.4501-7A>T rs62447794
NM_001277115.1(DNAH11):c.8478C>T (p.His2826=) rs62445328
NM_001297.4(CNGB1):c.2893-7G>A rs749199721
NM_001297.4(CNGB1):c.3115G>A (p.Gly1039Arg) rs148999583
NM_001297.4(CNGB1):c.838-4G>T rs375539469
NM_001298.2(CNGA3):c.143C>T (p.Pro48Leu) rs62156348
NM_001303.3(COX10):c.929-7C>T rs62052075
NM_001303.3(COX10):c.981C>T (p.Asn327=) rs146175179
NM_001308240.1(MICOS13):c.326-2A>G rs1064797230
NM_001360.2(DHCR7):c.1341C>T (p.Asp447=) rs139721775
NM_001360.2(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001369.2(DNAH5):c.6167A>T (p.Lys2056Ile) rs578128759
NM_001376.4(DYNC1H1):c.751C>T (p.Arg251Cys) rs879253979
NM_001456.3(FLNA):c.1029C>T (p.Ser343=) rs199853721
NM_001456.3(FLNA):c.1579C>T (p.Arg527Cys) rs202029322
NM_001456.3(FLNA):c.2449C>T (p.Pro817Ser) rs200053635
NM_001456.3(FLNA):c.759C>T (p.Asp253=) rs782701643
NM_001458.4(FLNC):c.1657G>A (p.Gly553Ser) rs201572079
NM_001458.4(FLNC):c.294G>A (p.Glu98=) rs201839252
NM_001458.4(FLNC):c.4296G>A (p.Pro1432=) rs370827536
NM_001458.4(FLNC):c.600C>T (p.Pro200=) rs202105410
NM_001540.3(HSPB1):c.80G>C (p.Arg27Pro) rs367662394
NM_001605.2(AARS):c.1672-4T>A rs187509039
NM_001605.2(AARS):c.1685C>T (p.Thr562Ile) rs148355156
NM_001605.2(AARS):c.2185C>T (p.Arg729Trp) rs138081804
NM_001605.2(AARS):c.2217C>T (p.Ile739=) rs770980206
NM_001605.2(AARS):c.2459A>G (p.Lys820Arg) rs147319762
NM_001605.2(AARS):c.2521-3C>T rs200586605
NM_001605.2(AARS):c.2580G>A (p.Leu860=) rs145581652
NM_001605.2(AARS):c.600C>T (p.Ala200=) rs150080663
NM_001605.2(AARS):c.700C>T (p.Pro234Ser) rs141840552
NM_001614.3(ACTG1):c.803-3T>C rs369438865
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) rs145735762
NM_001710.5(CFB):c.1143C>T (p.Arg381=) rs150920440
NM_001723.5(DST):c.22delT (p.Tyr8Thrfs) rs775912185
NM_001723.5(DST):c.739C>G (p.Pro247Ala) rs151271595
NM_001793.5(CDH3):c.805A>C (p.Met269Leu) rs36038900
NM_001848.2(COL6A1):c.1182+3G>A rs62215499
NM_001848.2(COL6A1):c.2045G>A (p.Arg682Gln) rs148962954
NM_001848.2(COL6A1):c.2635A>G (p.Ser879Gly) rs140534207
NM_001848.2(COL6A1):c.531C>T (p.Asn177=) rs767176038
NM_001848.2(COL6A1):c.666C>T (p.Arg222=) rs372581026
NM_001848.2(COL6A1):c.904-2A>G rs1057519174
NM_001849.3(COL6A2):c.1070C>G (p.Pro357Arg) rs199929757
NM_001849.3(COL6A2):c.1605C>T (p.Pro535=) rs377476546
NM_001849.3(COL6A2):c.1769C>T (p.Thr590Met) rs142709940
NM_001849.3(COL6A2):c.1970-3C>A rs201879417
NM_001849.3(COL6A2):c.2627G>A (p.Arg876His) rs1012567148
NM_001849.3(COL6A2):c.2683A>C (p.Ser895Arg) rs141233891
NM_001849.3(COL6A2):c.2769C>T (p.His923=) rs140419176
NM_001849.3(COL6A2):c.612C>T (p.Ile204=) rs773143298
NM_001849.3(COL6A2):c.649G>A (p.Ala217Thr) rs530625182
NM_001849.3(COL6A2):c.855+1G>C rs1057517988
NM_001854.3(COL11A1):c.2916+3A>G rs200515572
NM_001854.3(COL11A1):c.3297G>C (p.Gly1099=) rs768553239
NM_001875.4(CPS1):c.3481-8C>T rs41272669
NM_001885.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929
NM_001916.4(CYC1):c.227T>C (p.Val76Ala) rs144257411
NM_001958.3(EEF1A2):c.370G>A (p.Glu124Lys) rs886042041
NM_001985.2(ETFB):c.278C>T (p.Pro93Leu) rs139519507
NM_001985.2(ETFB):c.292C>T (p.Arg98Cys) rs147353781
NM_001985.2(ETFB):c.709G>A (p.Val237Ile) rs149129214
NM_001999.3(FBN2):c.3394G>A (p.Val1132Ile) rs138834515
NM_001999.3(FBN2):c.4983C>T (p.Cys1661=) rs143907156
NM_002047.2(GARS):c.562G>A (p.Val188Ile) rs376772628
NM_002047.3(GARS):c.408A>G (p.Gln136=) rs200279483
NM_002047.3(GARS):c.69G>A (p.Arg23=) rs762624758
NM_002074.4(GNB1):c.346G>A (p.Gly116Ser) rs1231842600
NM_002087.3(GRN):c.264+7G>A rs60100877
NM_002087.3(GRN):c.708+1G>A rs63749817
NM_002136.3(HNRNPA1):c.898C>T (p.Arg300Ter) rs483353037
NM_002163.2(IRF8):c.982T>G (p.Phe328Val) rs202046728
NM_002180.2(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430
NM_002180.2(IGHMBP2):c.1737C>T (p.Phe579=) rs368775789
NM_002180.2(IGHMBP2):c.2619G>A (p.Pro873=) rs373001247
NM_002222.5(ITPR1):c.1435G>A (p.Val479Ile) rs41289628
NM_002222.5(ITPR1):c.1962-3T>C rs200335594
NM_002222.5(ITPR1):c.3385A>G (p.Met1129Val) rs199698357
NM_002247.3(KCNMA1):c.3333G>A (p.Thr1111=) rs201721843
NM_002335.3(LRP5):c.639C>T (p.Asp213=) rs150859573
NM_002386.3(MC1R):c.464T>C (p.Ile155Thr) rs1110400
NM_002435.2(MPI):c.10C>T (p.Pro4Ser) rs143982014
NM_002473.5(MYH9):c.4952T>C (p.Met1651Thr) rs142094977
NM_002474.2(MYH11):c.3874G>A (p.Val1292Ile) rs151058774
NM_002474.2(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232
NM_002474.2(MYH11):c.5499G>C (p.Glu1833Asp) rs145252402
NM_002485.4(NBN):c.1142delC (p.Pro381Glnfs) rs587781969
NM_002485.4(NBN):c.283G>A (p.Asp95Asn) rs61753720
NM_002485.4(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002485.4(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002578.4(PAK3):c.483A>G (p.Ala161=) rs146801179
NM_002691.3(POLD1):c.80A>T (p.Asp27Val) rs150066950
NM_002693.2(POLG):c.1399G>A (p.Ala467Thr) rs113994095
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) rs145843073
NM_002693.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_002693.2(POLG):c.2487C>T (p.Pro829=) rs147563527
NM_002693.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_002693.2(POLG):c.2735-7C>G rs200372494
NM_002693.2(POLG):c.3436C>T (p.Arg1146Cys) rs2307440
NM_002693.2(POLG):c.391T>C (p.Tyr131His) rs562847013
NM_002693.2(POLG):c.803G>C (p.Gly268Ala) rs61752784
NM_002775.4(HTRA1):c.879C>T (p.Thr293=) rs149294320
NM_002860.3(ALDH18A1):c.1314C>T (p.Ile438=) rs150526956
NM_002860.3(ALDH18A1):c.2160C>T (p.Phe720=) rs374052426
NM_002860.3(ALDH18A1):c.2207-3C>T rs149309642
NM_002860.3(ALDH18A1):c.755G>A (p.Arg252Gln) rs864321670
NM_002863.4(PYGL):c.611A>G (p.Tyr204Cys) rs34096980
NM_002942.4(ROBO2):c.3857G>T (p.Arg1286Leu) rs200131009
NM_002972.3(SBF1):c.4768A>G (p.Thr1590Ala) rs200488568
NM_002977.3(SCN9A):c.1398C>T (p.Ser466=) rs201531206
NM_002977.3(SCN9A):c.1964A>G (p.Lys655Arg) rs121908919
NM_002977.3(SCN9A):c.2215A>G (p.Ile739Val) rs182650126
NM_002977.3(SCN9A):c.3328C>T (p.Arg1110Trp) rs190664764
NM_002977.3(SCN9A):c.3734A>G (p.Asn1245Ser) rs141268327
NM_002977.3(SCN9A):c.377+5C>T rs200972952
NM_002977.3(SCN9A):c.3799C>G (p.Leu1267Val) rs180922748
NM_002977.3(SCN9A):c.4612T>C (p.Trp1538Arg) rs202084411
NM_002977.3(SCN9A):c.684C>G (p.Ile228Met) rs71428908
NM_003001.3(SDHC):c.*84G>C rs201210474
NM_003002.3(SDHD):c.149A>G (p.His50Arg) rs11214077
NM_003035.2(STIL):c.1455G>C (p.Leu485Phe) rs139912214
NM_003036.3(SKI):c.1212-8C>T rs370921440
NM_003036.3(SKI):c.1384C>G (p.Pro462Ala) rs199797772
NM_003070.4(SMARCA2):c.175A>T (p.Thr59Ser) rs138129490
NM_003073.4(SMARCB1):c.1032C>T (p.Gly344=) rs149451748
NM_003119.3(SPG7):c.1032C>T (p.Gly344=) rs116319889
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.3(SPG7):c.1457G>A (p.Arg486Gln) rs111475461
NM_003119.3(SPG7):c.1586C>T (p.Ala529Val) rs748600162
NM_003119.3(SPG7):c.1727C>G (p.Ser576Trp) rs151249432
NM_003119.3(SPG7):c.1830C>T (p.Leu610=) rs746099594
NM_003124.4(SPR):c.112G>A (p.Val38Ile) rs146099322
NM_003126.3(SPTA1):c.54G>A (p.Leu18=) rs199690643
NM_003322.5(TULP1):c.371_394del24 (p.Asp124_Glu131del) rs281865169
NM_003476.4(CSRP3):c.10T>C (p.Trp4Arg) rs45550635
NM_003477.2(PDHX):c.674C>T (p.Thr225Met) rs148645836
NM_003482.3(KMT2D):c.13032delC (p.Lys4345Asnfs) rs398123716
NM_003494.3(DYSF):c.1966A>G (p.Lys656Glu) rs139754493
NM_003494.3(DYSF):c.3113G>A rs150877497
NM_003494.3(DYSF):c.3892A>G (p.Ile1298Val) rs121908954
NM_003494.3(DYSF):c.401C>T (p.Pro134Leu) rs773837400
NM_003494.3(DYSF):c.5022delT (p.Phe1674Leufs) rs1057519132
NM_003494.3(DYSF):c.5999G>A (p.Arg2000Gln) rs115407852
NM_003560.3(PLA2G6):c.2340C>T (p.Asn780=) rs138683183
NM_003560.3(PLA2G6):c.972G>A (p.Ala324=) rs147755372
NM_003560.3(PLA2G6):c.991G>A (p.Asp331Asn) rs199935023
NM_003630.2(PEX3):c.389G>A (p.Arg130Gln) rs758701470
NM_003640.4(ELP1):c.3280A>G (p.Arg1094Gly) rs146440397
NM_003673.3(TCAP):c.37_39delGAG (p.Glu13del) rs397516862
NM_003682.3(MADD):c.979C>T (p.Arg327Ter) rs147179561
NM_003690.4(PRKRA):c.784+6A>T rs188208530
NM_003737.4(DCHS1):c.1546G>A (p.Ala516Thr) rs142972252
NM_003742.2(ABCB11):c.1966_1967delTT (p.Leu656Alafs) rs1064797270
NM_003742.4(ABCB11):c.2134T>C (p.Leu712=) rs191649793
NM_003895.3(SYNJ1):c.3707C>T (p.Thr1236Met) rs145937537
NM_003907.3(EIF2B5):c.545C>T (p.Thr182Met) rs113994053
NM_004006.2(DMD):c.1252A>T (p.Thr418Ser) rs201341211
NM_004006.2(DMD):c.3326A>T (p.Asn1109Ile) rs200596739
NM_004006.2(DMD):c.3986C>T (p.Thr1329Ile) rs770827878
NM_004006.2(DMD):c.530+7A>T rs72470523
NM_004006.2(DMD):c.76A>G (p.Asn26Asp) rs1057521321
NM_004006.2(DMD):c.8226A>G (p.Gln2742=) rs746514008
NM_004037.7(AMPD2):c.1569+3A>G rs41280332
NM_004082.4(DCTN1):c.3529+5G>A rs72466494
NM_004082.4(DCTN1):c.837G>A (p.Ala279=) rs72466489
NM_004168.3(SDHA):c.1753C>T (p.Arg585Trp) rs200397144
NM_004183.3(BEST1):c.637-6C>T rs62639356
NM_004208.3(AIFM1):c.72C>T (p.Cys24=) rs373609902
NM_004260.3(RECQL4):c.1395G>A (p.Thr465=) rs34948955
NM_004278.3(PIGL):c.424C>A (p.Leu142Met) rs115958467
NM_004281.3(BAG3):c.249C>A (p.His83Gln) rs151331972
NM_004311.3(ARL3):c.446G>A (p.Arg149His) rs770782663
NM_004321.7(KIF1A):c.1551-4G>A rs376897164
NM_004321.7(KIF1A):c.2555+996G>A rs192102667
NM_004321.7(KIF1A):c.2956C>T (p.Pro986Ser) rs143037290
NM_004321.7(KIF1A):c.3390C>T (p.His1130=) rs375829173
NM_004329.2(BMPR1A):c.1438C>T (p.Arg480Trp) rs876658515
NM_004360.4(CDH1):c.1272C>T (p.Val424=) rs61756284
NM_004360.4(CDH1):c.2329G>A (p.Asp777Asn) rs372989292
NM_004369.3(COL6A3):c.1231C>G (p.Leu411Val) rs113716915
NM_004369.3(COL6A3):c.1688A>G (p.Asp563Gly) rs112913396
NM_004369.3(COL6A3):c.3087C>T (p.Asp1029=) rs113066678
NM_004369.3(COL6A3):c.3270C>T (p.Asp1090=) rs113781746
NM_004369.3(COL6A3):c.3419C>T (p.Thr1140Met) rs201131900
NM_004369.3(COL6A3):c.5619C>T (p.His1873=) rs146355600
NM_004369.3(COL6A3):c.5833G>C (p.Val1945Leu) rs113332380
NM_004369.3(COL6A3):c.6199G>A (p.Glu2067Lys) rs760446904
NM_004370.5(COL12A1):c.7853C>T (p.Thr2618Met) rs201988277
NM_004370.5(COL12A1):c.9083G>A (p.Arg3028His) rs41266761
NM_004380.2(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883
NM_004380.2(CREBBP):c.6516C>T (p.Asn2172=) rs763852812
NM_004407.3(DMP1):c.844C>A (p.Leu282Ile) rs141979823
NM_004408.3(DNM1):c.1350G>T (p.Pro450=) rs147897973
NM_004408.3(DNM1):c.235+8C>T rs370555560
NM_004452.3(ESRRB):c.1366T>C (p.Phe456Leu) rs188462546
NM_004458.2(ACSL4):c.1325A>G (p.Tyr442Cys) rs200451158
NM_004463.2(FGD1):c.935C>T (p.Pro312Leu) rs28935498
NM_004484.3(GPC3):c.660C>T (p.Ser220=) rs138450923
NM_004519.3(KCNQ3):c.2123G>T (p.Ser708Ile) rs977989588
NM_004525.2(LRP2):c.13685T>C (p.Val4562Ala) rs142245618
NM_004531.4(MOCS2):c.367C>T (p.His123Tyr) rs2233218
NM_004543.4(NEB):c.14995C>A (p.Leu4999Ile) rs202139330
NM_004543.4(NEB):c.19470A>G (p.Gln6490=) rs184319249
NM_004562.2(PRKN):c.1204C>T (p.Arg402Cys) rs55830907
NM_004562.2(PRKN):c.1358G>A (p.Trp453Ter) rs137853056
NM_004562.2(PRKN):c.245C>A (p.Ala82Glu) rs55774500
NM_004562.2(PRKN):c.919C>T (p.Leu307=) rs138920699
NM_004563.3(PCK2):c.68C>G (p.Ser23Ter) rs61752842
NM_004589.3(SCO1):c.16C>G (p.Leu6Val) rs61753148
NM_004612.2(TGFBR1):c.528G>A (p.Thr176=) rs190878719
NM_004612.3(TGFBR1):c.49C>T (p.Leu17=) rs878854714
NM_004656.3(BAP1):c.1131G>A (p.Leu377=) rs572089064
NM_004733.3(SLC33A1):c.1525G>A (p.Gly509Ser) rs76440173
NM_004817.4(TJP2):c.1877C>G (p.Thr626Ser) rs149911553
NM_004895.4(NLRP3):c.1407C>T (p.Leu469=) rs141637807
NM_004895.4(NLRP3):c.2113C>A (p.Gln705Lys) rs35829419
NM_004895.4(NLRP3):c.3011+25C>T rs61841189
NM_004958.3(MTOR):c.1821G>A (p.Ala607=) rs55881943
NM_004974.3(KCNA2):c.372G>A (p.Glu124=) rs200499541
NM_004974.3(KCNA2):c.881G>A (p.Arg294His) rs886041761
NM_004975.3(KCNB1):c.2324C>G (p.Pro775Arg) rs530927636
NM_004980.4(KCND3):c.1348C>T (p.Leu450Phe) rs150401343
NM_004984.3(KIF5A):c.750C>T (p.Asp250=) rs375693647
NM_004990.3(MARS):c.1753+7A>G rs117914586
NM_004990.3(MARS):c.2180G>A (p.Arg727Gln) rs113808165
NM_004990.3(MARS):c.747G>A (p.Pro249=) rs200490364
NM_004992.3(MECP2):c.1162_1179del18 (p.Pro388_Pro393del) rs267608406
NM_004992.3(MECP2):c.1188C>T (p.Ser396=) rs781816931
NM_004992.3(MECP2):c.1189G>A (p.Glu397Lys) rs56268439
NM_004992.3(MECP2):c.1327G>A (p.Ala443Thr) rs193922677
NM_004992.3(MECP2):c.393C>G (p.Ala131=) rs61748385
NM_004992.3(MECP2):c.840C>T (p.Ala280=) rs61750251
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444
NM_004999.3(MYO6):c.1025C>T (p.Ala342Val) rs145564837
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys) rs141845119
NM_005026.4(PIK3CD):c.780+3G>A
NM_005045.3(RELN):c.3651C>G (p.Ile1217Met) rs56342240
NM_005045.3(RELN):c.4408G>A (p.Val1470Ile) rs143213152
NM_005045.3(RELN):c.5108C>G (p.Pro1703Arg) rs2229860
NM_005045.3(RELN):c.5643G>A (p.Leu1881=) rs141387255
NM_005045.3(RELN):c.6084C>T (p.Gly2028=) rs114019779
NM_005045.3(RELN):c.7114G>A (p.Val2372Met) rs114344654
NM_005045.3(RELN):c.7438G>A (p.Gly2480Ser) rs150236371
NM_005045.3(RELN):c.8843+3A>C rs200124755
NM_005120.2(MED12):c.5922G>T (p.Gln1974His) rs879255528
NM_005138.2(SCO2):c.201C>T (p.Phe67=) rs61748568
NM_005211.3(CSF1R):c.2629C>T (p.Gln877Ter) rs690016556
NM_005236.2(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049
NM_005249.4(FOXG1):c.181C>T (p.Pro61Ser) rs762634382
NM_005249.4(FOXG1):c.251C>A (p.Pro84His) rs866815665
NM_005249.4(FOXG1):c.447C>T (p.Ala149=) rs112803404
NM_005249.4(FOXG1):c.685A>C (p.Ile229Leu) rs1064797186
NM_005259.2(MSTN):c.263G>A (p.Arg88Gln) rs138343163
NM_005327.4(HADH):c.275T>G (p.Phe92Cys) rs61735992
NM_005359.5(SMAD4):c.354G>A (p.Ala118=) rs145988618
NM_005472.4(KCNE3):c.248G>A (p.Arg83His) rs17215437
NM_005535.2(IL12RB1):c.222C>G (p.Ser74Arg) rs11575925
NM_005546.3(ITK):c.1759G>A (p.Val587Ile) rs56005928
NM_005562.2(LAMC2):c.3206C>T (p.Thr1069Met) rs139043074
NM_005591.3(MRE11):c.1222dupA (p.Thr408Asnfs) rs774440500
NM_005591.3(MRE11):c.1516G>T (p.Glu506Ter) rs587781384
NM_005591.3(MRE11):c.77T>C (p.Met26Thr) rs372068015
NM_005592.3(MUSK):c.398T>C (p.Ile133Thr) rs55980069
NM_005609.2(PYGM):c.645G>A (p.Lys215=) rs116315896
NM_005629.3(SLC6A8):c.1890G>C (p.Val630=) rs376385129
NM_005710.2(PQBP1):c.356G>A (p.Arg119His) rs781981660
NM_005726.5(TSFM):c.944G>A (p.Cys315Tyr) rs587777688
NM_005745.7(BCAP31):c.383C>T (p.Thr128Met) rs111450526
NM_005862.2(STAG1):c.659A>G (p.His220Arg) rs1057519153
NM_005902.3(SMAD3):c.872-4G>A rs776577220
NM_005910.5(MAPT):c.1087G>A (p.Val363Ile) rs63750869
NM_005910.5(MAPT):c.430-1485C>T rs143956882
NM_005910.5(MAPT):c.915+29G>A rs63751443
NM_005984.4(SLC25A1):c.517_526del (p.Arg173Glyfs) rs483352911
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) rs146132083
NM_006005.3(WFS1):c.1632C>T (p.Ser544=) rs140115060
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513
NM_006005.3(WFS1):c.2052G>A (p.Ala684=) rs71539668
NM_006005.3(WFS1):c.2124C>T (p.Arg708=) rs61735401
NM_006005.3(WFS1):c.2327A>T (p.Glu776Val) rs56002719
NM_006005.3(WFS1):c.2390_2392dupACG (p.Asp797_Val798insAsp) rs397517197
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys) rs35932623
NM_006005.3(WFS1):c.712+16G>A rs71524367
NM_006009.3(TUBA1A):c.521C>T (p.Ala174Val) rs587784489
NM_006015.5(ARID1A):c.5491C>G (p.Leu1831Val) rs150534917
NM_006017.2(PROM1):c.604C>G (p.Arg202Gly) rs140872693
NM_006019.3(TCIRG1):c.1800C>T (p.Ala600=) rs145144233
NM_006019.3(TCIRG1):c.479G>A (p.Gly160Glu) rs186758849
NM_006059.3(LAMC3):c.-2C>T rs137883250
NM_006087.2(TUBB4A):c.286G>A (p.Gly96Arg) rs1131691696
NM_006158.4(NEFL):c.639C>G (p.Ile213Met) rs62636522
NM_006204.3(PDE6C):c.2367+1_2367+5del rs796051871
NM_006214.3(PHYH):c.1010_1012dup (p.Asn337_Leu338insHis) rs566116760
NM_006231.3(POLE):c.3046G>A (p.Val1016Met) rs147692158
NM_006231.3(POLE):c.5769C>T (p.Gly1923=) rs375198950
NM_006231.3(POLE):c.6012C>T (p.Ile2004=) rs147806951
NM_006231.3(POLE):c.6623delA (p.Gln2208Argfs) rs1555301070
NM_006258.4(PRKG1):c.777T>C (p.Asn259=) rs774710312
NM_006269.1(RP1):c.2700dupA (p.Pro901Thrfs) rs797044735
NM_006269.1(RP1):c.616-6T>C rs186571865
NM_006295.2(VARS):c.1210C>T (p.Arg404Trp) rs749228986
NM_006329.3(FBLN5):c.376G>A (p.Val126Met) rs61734479
NM_006361.5(HOXB13):c.251G>A (p.Gly84Glu) rs138213197
NM_006415.3(SPTLC1):c.1402G>T (p.Ala468Ser) rs748723735
NM_006420.2(ARFGEF2):c.4812G>A (p.Lys1604=) rs142036030
NM_006432.4(NPC2):c.441+1G>A rs140130028
NM_006493.2(CLN5):c.61C>T (p.Pro21Ser) rs200353554
NM_006516.3(SLC2A1):c.1437C>T (p.Pro479=) rs146879902
NM_006516.3(SLC2A1):c.19-207T>C rs41310434
NM_006516.3(SLC2A1):c.19-5C>T rs376653618
NM_006516.3(SLC2A1):c.377G>A (p.Arg126His) rs80359816
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532Argfs) rs869312704
NM_006612.5(KIF1C):c.1111G>A (p.Ala371Thr) rs142056835
NM_006612.5(KIF1C):c.1165+4G>A rs192489748
NM_006612.5(KIF1C):c.2099C>T (p.Pro700Leu) rs148934699
NM_006612.5(KIF1C):c.866A>C (p.Gln289Pro) rs146872023
NM_006726.4(LRBA):c.114G>T (p.Gly38=) rs72721739
NM_006726.4(LRBA):c.1399A>G (p.Met467Val) rs116355217
NM_006726.4(LRBA):c.4591T>G (p.Phe1531Val) rs114610541
NM_006726.4(LRBA):c.5241T>C (p.Asn1747=) rs72719631
NM_006726.4(LRBA):c.7597A>C (p.Thr2533Pro) rs62346982
NM_006772.2(SYNGAP1):c.1962G>A (p.Glu654=) rs373857862
NM_006796.2(AFG3L2):c.2105G>A (p.Arg702Gln) rs151344523
NM_006796.2(AFG3L2):c.2314C>T (p.Leu772Phe) rs117182113
NM_006831.2(CLP1):c.419G>A (p.Arg140His) rs587777616
NM_006892.3(DNMT3B):c.143-8C>T rs200349528
NM_006892.3(DNMT3B):c.1760-8C>T rs2424926
NM_006892.3(DNMT3B):c.922-8C>T rs200508870
NM_006920.4(SCN1A):c.3891A>T (p.Glu1297Asp) rs121917910
NM_006920.4(SCN1A):c.5749C>G (p.Arg1917Gly) rs121917956
NM_006920.4(SCN1A):c.80G>C (p.Arg27Thr) rs121917906
NM_006946.3(SPTBN2):c.3671A>G (p.Asn1224Ser)
NM_006946.3(SPTBN2):c.3722A>G (p.Glu1241Gly) rs141683210
NM_006946.3(SPTBN2):c.92C>T (p.Ser31Leu) rs147766428
NM_007055.3(POLR3A):c.1771-7C>G rs201314157
NM_007123.5(USH2A):c.4586A>T (p.Lys1529Ile) rs41303255
NM_007126.3(VCP):c.2406T>C (p.Asp802=) rs145508640
NM_007194.3(CHEK2):c.593-11_593-7delTTCTT rs863224414
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883
NM_007194.4(CHEK2):c.132C>T (p.Ser44=) rs199715101
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala) rs562517792
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322
NM_007208.3(MRPL3):c.931G>A (p.Gly311Ser) rs148679749
NM_007254.3(PNKP):c.579-4G>A rs371834726
NM_007294.3(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.3(BRCA1):c.439T>C (p.Leu147=) rs794727800
NM_007294.3(BRCA1):c.4812A>G (p.Gln1604=) rs28897693
NM_007294.3(BRCA1):c.4882A>G (p.Met1628Val) rs80357465
NM_007294.3(BRCA1):c.591C>T (p.Cys197=) rs1799965
NM_007315.3(STAT1):c.1263+7G>A rs56228116
NM_007315.3(STAT1):c.633+6T>A rs45459703
NM_007315.3(STAT1):c.796G>A (p.Val266Ile) rs41473544
NM_007327.3(GRIN1):c.1974C>G (p.Asp658Glu) rs1064795712
NM_007327.3(GRIN1):c.2223G>C (p.Ser741=) rs767848286
NM_007327.3(GRIN1):c.705C>T (p.Ala235=) rs201343933
NM_007327.3(GRIN1):c.780C>T (p.Arg260=) rs3181450
NM_012224.2(NEK1):c.1137T>A (p.Asp379Glu) rs372585344
NM_012224.2(NEK1):c.782G>A (p.Arg261His) rs200161705
NM_012275.2(IL36RN):c.338C>T (p.Ser113Leu) rs144478519
NM_012452.2(TNFRSF13B):c.512T>G (p.Leu171Arg) rs143027621
NM_012452.2(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883
NM_012452.2(TNFRSF13B):c.605G>A (p.Arg202His) rs104894649
NM_013247.4(HTRA2):c.215T>C (p.Leu72Pro) rs150047108
NM_013314.3(BLNK):c.923T>C (p.Ile308Thr) rs144266674
NM_013382.5(POMT2):c.1250A>G (p.Lys417Arg) rs147268052
NM_013416.3(NCF4):c.478G>A (p.Val160Met) rs150103256
NM_014053.3(FLVCR1):c.1092+5G>A rs556788423
NM_014191.3(SCN8A):c.1588C>T (p.Arg530Trp) rs761336234
NM_014191.3(SCN8A):c.4748T>C (p.Ile1583Thr) rs201458257
NM_014191.3(SCN8A):c.4840A>G (p.Thr1614Ala) rs1555230909
NM_014191.3(SCN8A):c.5761A>C (p.Thr1921Pro) rs368796221
NM_014244.4(ADAMTS2):c.1488C>T (p.Phe496=) rs147438064
NM_014244.4(ADAMTS2):c.2751-4G>A rs112155474
NM_014244.4(ADAMTS2):c.748G>A (p.Ala250Thr) rs143764421
NM_014254.2(RXYLT1):c.275C>T (p.Thr92Met) rs73122634
NM_014336.4(AIPL1):c.401A>T (p.Tyr134Phe) rs16955851
NM_014363.5(SACS):c.12160C>T (p.Gln4054Ter) rs281865120
NM_014363.5(SACS):c.13717A>C (p.Asn4573His) rs34382952
NM_014363.5(SACS):c.2146C>T (p.His716Tyr) rs146852400
NM_014363.5(SACS):c.2983G>T (p.Val995Phe) rs142967124
NM_014363.5(SACS):c.2988A>G (p.Leu996=) rs111846884
NM_014363.5(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014363.5(SACS):c.8393C>A (p.Pro2798Gln) rs140551762
NM_014365.2(HSPB8):c.503C>T (p.Ala168Val) rs373049356
NM_014646.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500
NM_014646.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314
NM_014646.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805
NM_014795.3(ZEB2):c.1542G>T (p.Pro514=) rs141674976
NM_014795.3(ZEB2):c.3046C>T (p.Arg1016Ter) rs886041989
NM_014795.3(ZEB2):c.3640A>G (p.Met1214Val) rs199951665
NM_014795.3(ZEB2):c.374C>T (p.Thr125Met) rs727504227
NM_014874.3(MFN2):c.1403G>A (p.Arg468His) rs138382758
NM_014874.3(MFN2):c.1641C>T (p.Leu547=) rs140924661
NM_014874.3(MFN2):c.1827C>T (p.Ser609=) rs138724074
NM_014874.3(MFN2):c.2157G>A (p.Lys719=) rs148441213
NM_014874.3(MFN2):c.756C>T (p.Asn252=) rs137960129
NM_014874.3(MFN2):c.891C>T (p.Ala297=) rs11554508
NM_014874.3(MFN2):c.892G>A (p.Gly298Arg) rs41278630
NM_014929.3(FASTKD2):c.149A>G (p.Lys50Arg) rs141447598
NM_014946.3(SPAST):c.1209_1212delCTTT (p.Phe403Leufs) rs1553317029
NM_014946.3(SPAST):c.134C>A (p.Pro45Gln) rs121908517
NM_014946.3(SPAST):c.1507C>T (p.Arg503Trp) rs864622162
NM_014946.3(SPAST):c.1785C>A (p.Ser595Arg) rs145206063
NM_014985.3(CEP152):c.3313C>G (p.Leu1105Val) rs74553953
NM_015046.5(SETX):c.4273A>G (p.Lys1425Glu) rs534886444
NM_015046.5(SETX):c.472T>G (p.Leu158Val) rs145438764
NM_015046.5(SETX):c.7640T>C (p.Ile2547Thr) rs151117904
NM_015046.6(SETX):c.3072_3074dup (p.Asp1024_Glu1025insAsp) rs572772837
NM_015100.3(POGZ):c.130G>A (p.Val44Met) rs752798900
NM_015120.4(ALMS1):c.9825C>G (p.Thr3275=) rs201446579
NM_015166.3(MLC1):c.654C>A (p.Asn218Lys) rs41302601
NM_015284.3(SZT2):c.7391T>C (p.Val2464Ala) rs150113647
NM_015335.4(MED13L):c.656C>T (p.Thr219Met) rs191743300
NM_015346.3(ZFYVE26):c.1184G>T (p.Gly395Val) rs35512910
NM_015346.3(ZFYVE26):c.677G>A (p.Arg226His) rs147919567
NM_015386.2(COG4):c.558T>C (p.Asp186=) rs376885733
NM_015560.2(OPA1):c.70A>G (p.Ile24Val) rs201520438
NM_015570.3(AUTS2):c.1295C>A (p.Pro432His) rs767529359
NM_015629.4(PRPF31):c.904del (p.Ala302Glnfs) rs1555793828
NM_015915.4(ATL1):c.1173C>T (p.His391=) rs149340140
NM_016035.4(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_016065.3(MRPS16):c.389C>G (p.Thr130Arg) rs117510230
NM_016203.3(PRKAG2):c.698C>G (p.Ala233Gly) rs201240745
NM_016204.3(GDF2):c.1290G>A (p.Ter430=) rs139568056
NM_016219.4(MAN1B1):c.1189G>A (p.Glu397Lys) rs387906885
NM_016219.4(MAN1B1):c.635T>G (p.Val212Gly) rs186504463
NM_016239.3(MYO15A):c.3979C>T (p.Leu1327=) rs146245515
NM_016239.3(MYO15A):c.4033A>T (p.Ile1345Leu) rs201234482
NM_016239.3(MYO15A):c.5287C>T (p.Arg1763Trp) rs200146361
NM_016239.3(MYO15A):c.6669G>A (p.Ala2223=) rs558947304
NM_016239.3(MYO15A):c.7396-8C>G rs370351502
NM_016239.3(MYO15A):c.8269G>A (p.Val2757Met) rs140140417
NM_016239.3(MYO15A):c.9478C>T (p.Leu3160Phe) rs140029076
NM_016247.3(IMPG2):c.3262C>T (p.Arg1088Ter) rs199867882
NM_016335.4(PRODH):c.1322T>C (p.Leu441Pro) rs2904551
NM_016373.3(WWOX):c.410G>A (p.Gly137Glu) rs761879076
NM_016381.5(TREX1):c.309dupC (p.Thr104Hisfs) rs748914604
NM_016725.2(FOLR1):c.292C>T (p.Arg98Trp) rs76191655
NM_016938.4(EFEMP2):c.139C>T (p.Pro47Ser) rs144320036
NM_016938.4(EFEMP2):c.277G>A (p.Gly93Ser) rs2234462
NM_016952.4(CDON):c.3395C>T (p.Pro1132Leu) rs754025360
NM_017534.5(MYH2):c.2908G>A (p.Val970Ile) rs143872329
NM_017534.5(MYH2):c.5780G>A (p.Arg1927Gln) rs34161789
NM_017651.4(AHI1):c.2505G>A (p.Arg835=) rs41288017
NM_017651.4(AHI1):c.2798A>G (p.Tyr933Cys) rs41288013
NM_017777.3(MKS1):c.1408-34_1408-6del29 rs386834043
NM_017780.3(CHD7):c.6513C>T (p.Ala2171=) rs376020564
NM_017837.3(PIGV):c.348G>A (p.Leu116=) rs148662665
NM_017882.2(CLN6):c.898T>C (p.Trp300Arg) rs750937323
NM_017890.4(VPS13B):c.1463C>T (p.Thr488Met) rs150783688
NM_017890.4(VPS13B):c.1559A>G (p.His520Arg) rs143205296
NM_017890.4(VPS13B):c.1639A>G (p.Thr547Ala) rs142971568
NM_017890.4(VPS13B):c.2704A>G (p.Lys902Glu) rs149531438
NM_017890.4(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485
NM_017890.4(VPS13B):c.3516A>G (p.Thr1172=) rs118158347
NM_017890.4(VPS13B):c.8978A>G (p.Asn2993Ser) rs28940272
NM_017890.4(VPS13B):c.9667C>T (p.Arg3223Trp) rs149842139
NM_017929.5(PEX26):c.728C>T (p.Ala243Val) rs149153003
NM_017946.3(FKBP14):c.48_50delTTT (p.Leu17del) rs564626031
NM_018051.4(WDR60):c.1777C>T (p.Arg593Trp) rs776300442
NM_018100.3(EFHC1):c.1587G>A (p.Ala529=) rs377227885
NM_018105.2(THAP1):c.590G>A (p.Gly197Asp) rs140694378
NM_018136.4(ASPM):c.646G>A (p.Glu216Lys) rs151050191
NM_018136.4(ASPM):c.8966A>G (p.Tyr2989Cys) rs149690383
NM_018249.5(CDK5RAP2):c.2644C>G (p.Leu882Val) rs587783383
NM_018249.5(CDK5RAP2):c.412G>A (p.Gly138Ser) rs61756286
NM_018328.4(MBD5):c.2254A>G (p.Ile752Val) rs147455836
NM_018344.5(SLC29A3):c.73C>T (p.Arg25Ter) rs746408350
NM_018699.3(PRDM5):c.1633T>C (p.Tyr545His) rs142515463
NM_018972.2(GDAP1):c.310+6delG rs780828430
NM_018972.3(GDAP1):c.818G>A (p.Arg273Gln) rs879254192
NM_018977.3(NLGN3):c.10C>T (p.Arg4Trp) rs376877146
NM_018977.3(NLGN3):c.1894A>G (p.Thr632Ala) rs144914894
NM_018979.3(WNK1):c.2490G>A (p.Pro830=) rs79816263
NM_018993.3(RIN2):c.-2862C>T rs183028833
NM_018993.3(RIN2):c.1141C>T (p.Arg381Trp) rs199954296
NM_018993.3(RIN2):c.1642G>A (p.Val548Met) rs181298473
NM_018993.3(RIN2):c.1966G>A (p.Val656Ile) rs201964534
NM_018993.3(RIN2):c.77C>T (p.Ser26Leu) rs577973228
NM_019098.4(CNGB3):c.2420C>G (p.Ala807Gly) rs142846289
NM_019105.6(TNXB):c.10362C>T (p.Thr3454=) rs116701346
NM_019105.6(TNXB):c.6544+8T>A rs150379644
NM_019112.3(ABCA7):c.2126_2131del (p.Glu709_Gln710del) rs1555685376
NM_019619.3(PARD3):c.1046G>A (p.Arg349His) rs199923448
NM_020247.4(COQ8A):c.993C>T (p.Phe331=) rs41303129
NM_020361.4(CPA6):c.1026C>G (p.Pro342=) rs372964579
NM_020361.4(CPA6):c.544C>T (p.Arg182Ter) rs773734224
NM_020366.3(RPGRIP1):c.1197C>T (p.Asn399=) rs372186092
NM_020366.3(RPGRIP1):c.1611G>A (p.Gln537=) rs1064797181
NM_020366.3(RPGRIP1):c.1767G>T (p.Gln589His) rs34067949
NM_020366.3(RPGRIP1):c.930+3A>G rs150107283
NM_020451.2(SELENON):c.465G>A (p.Thr155=) rs753774853
NM_020630.5(RET):c.874G>A (p.Val292Met) rs34682185
NM_020631.4(PLEKHG5):c.1724C>T (p.Pro575Leu) rs77134982
NM_020631.4(PLEKHG5):c.307G>A (p.Val103Met) rs141032388
NM_020631.4(PLEKHG5):c.33T>C (p.Leu11=) rs144859183
NM_020631.4(PLEKHG5):c.34C>A (p.Pro12Thr) rs140687324
NM_020631.4(PLEKHG5):c.88C>T (p.Arg30Cys) rs111400494
NM_020705.2(TBC1D24):c.1008G>A (p.Ser336=) rs370244846
NM_020732.3(ARID1B):c.1960C>T (p.Gln654Ter) rs1554270809
NM_020732.3(ARID1B):c.5338C>T (p.Gln1780Ter) rs750447037
NM_020732.3(ARID1B):c.679_680delGTinsCC (p.Val227Pro) rs1554247605
NM_020822.2(KCNT1):c.1337+7G>A rs374975940
NM_020822.2(KCNT1):c.1338-3C>T rs369562243
NM_020822.2(KCNT1):c.1718G>A (p.Arg573His) rs575162600
NM_020822.2(KCNT1):c.1776C>T (p.Gly592=) rs769406687
NM_020822.2(KCNT1):c.1777G>A (p.Val593Met) rs779590747
NM_020822.2(KCNT1):c.1928G>A (p.Arg643Gln) rs141281093
NM_020822.2(KCNT1):c.2594+7C>T rs545094921
NM_020822.2(KCNT1):c.3495C>T (p.Thr1165=) rs374429090
NM_020822.2(KCNT1):c.3501C>T (p.Tyr1167=) rs773575309
NM_020822.2(KCNT1):c.567G>A (p.Leu189=) rs372998864
NM_020937.3(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911
NM_020937.3(FANCM):c.5224A>G (p.Ile1742Val) rs143662421
NM_020964.2(EPG5):c.4039A>C (p.Asn1347His) rs144860976
NM_020988.2(GNAO1):c.27G>A (p.Glu9=) rs139334934
NM_021007.2(SCN2A):c.1923T>C (p.Asn641=) rs780183614
NM_021007.2(SCN2A):c.2562+5A>G rs374738441
NM_021007.2(SCN2A):c.3579C>A (p.Leu1193=) rs367546924
NM_021007.2(SCN2A):c.5397T>C (p.Tyr1799=) rs200603552
NM_021072.3(HCN1):c.124C>T (p.Pro42Ser) rs56164833
NM_021599.3(ADAMTS2):c.80_100dup (p.Pro33_Pro34insLeuLeuProProProProPro) rs1064794627
NM_021830.4(TWNK):c.1366C>G (p.Leu456Val) rs386834145
NM_022041.3(GAN):c.1684C>G (p.Pro562Ala) rs79901179
NM_022089.3(ATP13A2):c.106-8G>A rs200587951
NM_022089.3(ATP13A2):c.1309C>G (p.Leu437Val) rs149372969
NM_022089.3(ATP13A2):c.1926G>A (p.Ala642=) rs200916673
NM_022089.3(ATP13A2):c.477+2T>G rs758014228
NM_022124.5(CDH23):c.2263C>T (p.His755Tyr) rs181255269
NM_022124.5(CDH23):c.2830A>G (p.Ser944Gly) rs188098974
NM_022124.5(CDH23):c.2866G>A (p.Glu956Lys) rs756147087
NM_022124.5(CDH23):c.2878G>A (p.Glu960Lys) rs111033458
NM_022124.5(CDH23):c.3331G>A (p.Val1111Ile) rs397517321
NM_022124.5(CDH23):c.6648C>T (p.Ala2216=) rs186394654
NM_022124.5(CDH23):c.8022G>A (p.Gln2674=) rs201733315
NM_022132.4(MCCC2):c.1015G>A (p.Val339Met) rs150591260
NM_022132.4(MCCC2):c.803G>C (p.Arg268Thr) rs119103223
NM_022162.2(NOD2):c.1281G>A (p.Pro427=) rs104895430
NM_022162.2(NOD2):c.2107C>T (p.Arg703Cys) rs5743277
NM_022162.2(NOD2):c.566C>T (p.Thr189Met) rs61755182
NM_022162.2(NOD2):c.807G>A (p.Pro269=) rs369766454
NM_022168.4(IFIH1):c.1121G>A (p.Arg374His) rs145520044
NM_022168.4(IFIH1):c.1641+1G>C rs35337543
NM_022356.3(P3H1):c.1322A>G (p.Asp441Gly) rs113593896
NM_022726.3(ELOVL4):c.502T>C (p.Leu168=) rs886061802
NM_022787.3(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175
NM_022912.2(REEP1):c.*50G>A rs189652973
NM_023110.2(FGFR1):c.443G>A (p.Arg148His) rs515726222
NM_024120.4(NDUFAF5):c.327G>C (p.Lys109Asn) rs150613320
NM_024301.4(FKRP):c.427C>A (p.Arg143Ser) rs148206382
NM_024570.3(RNASEH2B):c.455A>G (p.Asn152Ser) rs146451037
NM_024577.3(SH3TC2):c.1482C>T (p.Leu494=) rs200665714
NM_024577.3(SH3TC2):c.3795G>C (p.Leu1265=) rs144873879
NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) rs80359890
NM_024577.3(SH3TC2):c.689T>C (p.Val230Ala) rs148634904
NM_024596.4(MCPH1):c.2401A>G (p.Ser801Gly) rs45540031
NM_024649.4(BBS1):c.952G>A (p.Gly318Arg) rs1555048487
NM_024675.3(PALB2):c.1572A>G (p.Ser524=) rs45472400
NM_024675.3(PALB2):c.194C>T (p.Pro65Leu) rs62625272
NM_024675.3(PALB2):c.2590C>T (p.Pro864Ser) rs45568339
NM_024675.3(PALB2):c.3202-8G>A rs367979106
NM_024675.3(PALB2):c.3508C>T (p.His1170Tyr) rs200283306
NM_024740.2(ALG9):c.1659C>T (p.Pro553=) rs2276263
NM_024753.4(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725
NM_024996.5(GFM1):c.690-5C>G rs201685981
NM_025114.3(CEP290):c.1079G>A (p.Arg360Gln) rs188164241
NM_025114.3(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025137.3(SPG11):c.4744-6T>C rs147550048
NM_025137.3(SPG11):c.6224A>G (p.Asn2075Ser) rs140824939
NM_025137.3(SPG11):c.6737_6740delTTGA (p.Ile2246Serfs) rs312262781
NM_025137.3(SPG11):c.808G>A (p.Val270Ile) rs80338868
NM_025152.2(NUBPL):c.545T>C (p.Val182Ala) rs61752327
NM_025152.2(NUBPL):c.815-27T>C rs118161496
NM_025215.5(PUS1):c.1214C>T (p.Thr405Met) rs149378338
NM_025243.3(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444
NM_025243.3(SLC19A3):c.621A>G (p.Ile207Met) rs145804755
NM_030665.3(RAI1):c.1538A>G (p.Gln513Arg) rs147091667
NM_030665.3(RAI1):c.4043C>T (p.Ala1348Val) rs143396390
NM_030665.3(RAI1):c.4693G>A (p.Val1565Met) rs368106957
NM_030777.3(SLC2A10):c.674G>A (p.Arg225His) rs34295241
NM_030962.3(SBF2):c.1509A>G (p.Glu503=) rs143773975
NM_030962.3(SBF2):c.2323G>A (p.Gly775Ser) rs141330687
NM_030962.3(SBF2):c.3290C>A (p.Thr1097Asn) rs141894081
NM_030962.3(SBF2):c.3819C>T (p.Ser1273=) rs145351367
NM_030973.3(MED25):c.1004C>T (p.Ala335Val) rs145770066
NM_031220.3(PITPNM3):c.1878G>C (p.Gln626His) rs76024428
NM_031407.6(HUWE1):c.12559C>T (p.Arg4187Cys) rs121918527
NM_032043.2(BRIP1):c.2220G>T (p.Gln740His) rs45589637
NM_032043.2(BRIP1):c.517C>T (p.Arg173Cys) rs4988345
NM_032119.3(ADGRV1):c.11974G>A (p.Asp3992Asn) rs201386977
NM_032119.3(ADGRV1):c.14309G>A (p.Arg4770His) rs41304892
NM_032119.3(ADGRV1):c.6608T>C (p.Val2203Ala) rs200055351
NM_032193.3(RNASEH2C):c.468G>T (p.Ala156=) rs61736590
NM_032273.3(TMEM126A):c.314G>A (p.Arg105Gln) rs146573578
NM_032446.2(MEGF10):c.1841-5T>C rs372378202
NM_032520.4(GNPTG):c.255G>A (p.Pro85=) rs76594024
NM_032667.6(BSCL2):c.1088T>C (p.Leu363Pro) rs145649423
NM_032737.3(LMNB2):c.402C>T (p.Ser134=) rs148213507
NM_032856.3(WDR73):c.1132delC (p.Arg378Alafs) rs747109506
NM_033056.3(PCDH15):c.3502-8C>T rs184144118
NM_033056.3(PCDH15):c.5254_5256delCCT (p.Pro1752del) rs397517462
NM_033071.3(SYNE1):c.10058C>A (p.Ser3353Tyr) rs150170988
NM_033071.3(SYNE1):c.10077T>C (p.Ser3359=) rs140861713
NM_033071.3(SYNE1):c.11142G>T (p.Lys3714Asn) rs143070183
NM_033071.3(SYNE1):c.11173A>G (p.Thr3725Ala) rs144797744
NM_033071.3(SYNE1):c.12012+4G>A rs770448083
NM_033071.3(SYNE1):c.1899A>G (p.Gln633=) rs62427038
NM_033071.3(SYNE1):c.23102G>A (p.Arg7701Gln) rs138787771
NM_033071.3(SYNE1):c.5091C>G (p.Val1697=) rs146789107
NM_033071.3(SYNE1):c.5122G>T (p.Ala1708Ser) rs149758808
NM_033100.3(CDHR1):c.1071C>T (p.Ser357=) rs146588811
NM_033100.3(CDHR1):c.1868A>G (p.Asn623Ser) rs137876961
NM_033100.3(CDHR1):c.783G>A (p.Pro261=) rs147346345
NM_033517.1(SHANK3):c.2265+1G>A rs1396379503
NM_052865.3(MGME1):c.794C>T (p.Thr265Ile) rs76599088
NM_052945.3(TNFRSF13C):c.475C>T (p.His159Tyr) rs61756766
NM_053025.3(MYLK):c.1569C>T (p.Cys523=) rs150378280
NM_053025.3(MYLK):c.999G>A (p.Pro333=) rs13319347
NM_058216.2(RAD51C):c.376G>A (p.Ala126Thr) rs61758784
NM_058216.2(RAD51C):c.790G>A (p.Gly264Ser) rs147241704
NM_058216.2(RAD51C):c.859A>G (p.Thr287Ala) rs28363317
NM_080680.2(COL11A2):c.1861C>A (p.Pro621Thr) rs121912952
NM_080680.2(COL11A2):c.5000G>A (p.Arg1667His) rs146555195
NM_080680.2(COL11A2):c.706C>T (p.Pro236Ser) rs35116188
NM_130468.3(CHST14):c.635T>C (p.Val212Ala) rs144629123
NM_130797.3(DPP6):c.227A>T (p.Asp76Val) rs572667303
NM_130837.2(OPA1):c.113_130delGAAGCATTTATCATTCAC (p.Arg38_Ser43del) rs863224140
NM_130838.1(UBE3A):c.2359A>G (p.Thr787Ala) rs374519603
NM_130838.3(UBE3A):c.1004G>C (p.Ser335Thr) rs141984760
NM_133378.4(TTN):c.11138C>G (p.Thr3713Ser) rs72648925
NM_133378.4(TTN):c.11446G>C (p.Val3816Leu) rs72648929
NM_133378.4(TTN):c.17816G>A (p.Cys5939Tyr) rs189951108
NM_133378.4(TTN):c.21241A>G (p.Lys7081Glu) rs72648984
NM_133378.4(TTN):c.28892C>T (p.Pro9631Leu) rs72650031
NM_133378.4(TTN):c.31484-595A>T rs200840285
NM_133378.4(TTN):c.33817G>A (p.Asp11273Asn) rs201257644
NM_133378.4(TTN):c.39544G>A (p.Val13182Ile) rs72677232
NM_133378.4(TTN):c.43010G>A (p.Arg14337His) rs191539637
NM_133378.4(TTN):c.45418A>G (p.Lys15140Glu) rs185913848
NM_133378.4(TTN):c.87147T>A (p.Asp29049Glu) rs72648256
NM_133378.4(TTN):c.90056G>A (p.Arg30019His) rs55704830
NM_133378.4(TTN):c.95708G>A (p.Arg31903Gln) rs149391616
NM_133378.4(TTN):c.99872T>C (p.Met33291Thr) rs72629793
NM_133379.4(TTN):c.*265+198852C>T rs373871146
NM_133379.4(TTN):c.*265+213933G>A rs55938627
NM_133379.4(TTN):c.13948C>T (p.Pro4650Ser) rs149748934
NM_133437.4(TTN):c.10670dup (p.Leu3558Thrfs) rs778172350
NM_133499.2(SYN1):c.1107C>T (p.Ile369=) rs150248483
NM_138361.5(LRSAM1):c.1026G>T (p.Leu342=) rs367599324
NM_138361.5(LRSAM1):c.1027C>T (p.Leu343=) rs369353985
NM_138361.5(LRSAM1):c.268G>A (p.Asp90Asn) rs117692127
NM_138691.2(TMC1):c.1141T>A (p.Tyr381Asn) rs749491943
NM_138694.3(PKHD1):c.7912-5T>G rs371510537
NM_138694.3(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255
NM_138773.3(SLC25A46):c.416C>A (p.Thr139Asn) rs202123515
NM_138773.3(SLC25A46):c.767A>G (p.Lys256Arg) rs141213807
NM_139058.2(ARX):c.1671G>A (p.Thr557=) rs190910161
NM_139058.2(ARX):c.856G>A (p.Gly286Ser) rs28935479
NM_139241.3(FGD4):c.1711C>A (p.Pro571Thr) rs144693221
NM_139241.3(FGD4):c.2149G>A (p.Val717Met) rs61753359
NM_139242.3(MTFMT):c.146_153delGGGTGCTC (p.Arg49Leufs) rs587777417
NM_139242.3(MTFMT):c.16C>T (p.Arg6Trp) rs199599204
NM_139242.3(MTFMT):c.626C>T (p.Ser209Leu) rs201431517
NM_144612.6(LOXHD1):c.2497C>T (p.Arg833Ter) rs188119157
NM_144670.5(A2ML1):c.2405G>A (p.Arg802His) rs201562272
NM_144997.6(FLCN):c.1149C>T (p.Leu383=) rs150752548
NM_145064.2(STAC3):c.432+4A>T rs751033943
NM_145064.2(STAC3):c.862A>T (p.Lys288Ter) rs371720347
NM_145207.2(SPATA5):c.1877G>C (p.Trp626Ser) rs375343753
NM_145239.2(PRRT2):c.912C>T (p.Asp304=) rs759633234
NM_152264.4(SLC39A13):c.398C>T (p.Thr133Met) rs140574574
NM_152264.4(SLC39A13):c.439C>G (p.Gln147Glu) rs148291843
NM_152269.4(C12orf65):c.243C>T (p.Cys81=) rs140411575
NM_152269.4(C12orf65):c.413A>G (p.Lys138Arg) rs147328685
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys) rs1064797245
NM_152296.5(ATP1A3):c.2439G>A (p.Ala813=) rs189555627
NM_152419.2(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988
NM_152419.2(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_152419.2(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282
NM_152618.2(BBS12):c.1114_1115del (p.Phe372Terfs) rs587777803
NM_152743.3(BRAT1):c.866G>C (p.Cys289Ser) rs140451075
NM_152778.2(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024
NM_152783.4(D2HGDH):c.1258G>A (p.Ala420Thr) rs149504235
NM_152783.4(D2HGDH):c.720C>A (p.Thr240=) rs147210645
NM_153638.3(PANK2):c.137A>T (p.Asp46Val) rs148036492
NM_153638.3(PANK2):c.276G>A (p.Arg92=) rs142832849
NM_153704.5(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698
NM_170707.3(LMNA):c.1381-6C>T rs371635492
NM_170707.3(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_170707.3(LMNA):c.481G>A (p.Glu161Lys) rs28933093
NM_170707.3(LMNA):c.643C>T (p.Leu215=) rs397517905
NM_172079.2(CAMK2B):c.903+1G>A rs1554385102
NM_172107.3(KCNQ2):c.1539C>T (p.Pro513=) rs376713245
NM_172107.3(KCNQ2):c.1827C>T (p.Ala609=) rs369438374
NM_172107.3(KCNQ2):c.1842C>T (p.Pro614=) rs552807375
NM_172107.3(KCNQ2):c.1887+5G>A rs777916008
NM_172107.3(KCNQ2):c.1A>G (p.Met1Val) rs118192185
NM_172107.3(KCNQ2):c.593G>A (p.Arg198Gln) rs796052621
NM_172107.3(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
NM_172107.3(KCNQ2):c.740C>T (p.Ser247Leu) rs74315392
NM_172107.3(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_173483.3(CYP4F22):c.1064C>T (p.Pro355Leu) rs760727576
NM_173483.3(CYP4F22):c.1424G>A (p.Cys475Tyr) rs1403531884
NM_173500.3(TTBK2):c.1555G>C (p.Ala519Pro) rs200124857
NM_173630.3(RTTN):c.2568T>A (p.Ala856=) rs370998068
NM_173630.3(RTTN):c.282G>T (p.Arg94=) rs199908033
NM_173660.4(DOK7):c.134C>T (p.Ser45Leu) rs62272670
NM_173841.2(IL1RN):c.78G>A (p.Thr26=) rs2232353
NM_174889.4(NDUFAF2):c.451G>A (p.Gly151Ser) rs9885480
NM_174917.4(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143
NM_175073.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324
NM_175073.2(APTX):c.971A>T (p.Gln324Leu) rs141493373
NM_176824.2(BBS7):c.1235A>G (p.Asp412Gly) rs111442398
NM_177550.4(SLC13A5):c.231+6C>A rs138834680
NM_178151.2(DCX):c.305G>A (p.Arg102His) rs267606317
NM_178857.5(RP1L1):c.1138G>A (p.Gly380Arg) rs184332984
NM_178857.5(RP1L1):c.1434C>T (p.Asp478=) rs138367868
NM_178857.5(RP1L1):c.168C>A (p.Arg56=) rs187433303
NM_178857.5(RP1L1):c.217C>T (p.Pro73Ser) rs202082944
NM_178857.5(RP1L1):c.2644C>T (p.Arg882Trp) rs148936402
NM_178857.5(RP1L1):c.273C>T (p.Ser91=) rs201810499
NM_178857.5(RP1L1):c.407G>A (p.Arg136His) rs189960401
NM_178857.5(RP1L1):c.4865G>A (p.Arg1622Gln) rs151260617
NM_178857.5(RP1L1):c.5211G>A (p.Gly1737=) rs201594207
NM_178857.5(RP1L1):c.5713G>A (p.Gly1905Ser) rs202121941
NM_178857.5(RP1L1):c.5821C>T (p.Gln1941Ter) rs201017122
NM_178857.5(RP1L1):c.7047T>C (p.Thr2349=) rs202213014
NM_178857.6(RP1L1):c.326_327insT (p.Lys111Glnfs)
NM_181079.4(IL21R):c.1099G>A (p.Gly367Ser) rs56148525
NM_181523.2(PIK3R1):c.1185A>G (p.Pro395=) rs149905863
NM_181882.2(PRX):c.1216G>A (p.Ala406Thr) rs117336941
NM_181882.2(PRX):c.1574T>C (p.Val525Ala) rs149715830
NM_181882.2(PRX):c.2254G>A (p.Glu752Lys) rs147587689
NM_181882.2(PRX):c.3373G>A (p.Gly1125Ser) rs148939995
NM_181882.2(PRX):c.823C>A (p.Leu275Ile) rs200033507
NM_182914.2(SYNE2):c.19194C>T (p.Ala6398=) rs144599409
NM_183050.2(BCKDHB):c.995C>T (p.Pro332Leu) rs1554205541
NM_183050.3(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233
NM_183075.2(CYP2U1):c.850T>C (p.Phe284Leu) rs148477072
NM_183075.2(CYP2U1):c.992A>G (p.Asn331Ser) rs148983337
NM_198271.4(LMOD3):c.1004A>G (p.Gln335Arg) rs1057519129
NM_198271.4(LMOD3):c.1648C>T (p.Leu550Phe) rs1057519128
NM_198282.3(TMEM173):c.61G>A (p.Ala21Thr) rs140011636
NM_198576.3(AGRN):c.1993G>A (p.Glu665Lys) rs143324306
NM_198576.3(AGRN):c.4839C>T (p.Cys1613=) rs113020870
NM_198578.3(LRRK2):c.1000G>A (p.Glu334Lys) rs78501232
NM_198903.2(GABRG2):c.549-3T>G rs750459631
NM_199242.2(UNC13D):c.2341G>A (p.Val781Ile) rs149871493
NM_199242.2(UNC13D):c.2542A>C (p.Ile848Leu) rs144968313
NM_199242.2(UNC13D):c.2983G>C (p.Ala995Pro) rs138760432
NM_199292.2(TH):c.16G>A (p.Ala6Thr) rs74555599
NM_201253.2(CRB1):c.2103C>G (p.Pro701=) rs144436610
NM_203447.3(DOCK8):c.663C>A (p.Asp221Glu) rs139391329
NM_206933.2(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785
NM_206933.2(USH2A):c.11105G>A (p.Trp3702Ter) rs1057519193
NM_206933.2(USH2A):c.11191G>C (p.Glu3731Gln) rs150264392
NM_206933.2(USH2A):c.13440G>A (p.Arg4480=) rs111033378
NM_206933.2(USH2A):c.13709G>A (p.Arg4570His) rs730254
NM_206933.2(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853
NM_206933.2(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.2(USH2A):c.1581C>T (p.Cys527=) rs140331348
NM_206933.2(USH2A):c.1663C>G (p.Leu555Val) rs35818432
NM_206933.2(USH2A):c.1966G>A (p.Asp656Asn) rs146824138
NM_206933.2(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.2(USH2A):c.2880T>C (p.Asn960=) rs151177516
NM_206933.2(USH2A):c.3123C>A (p.His1041Gln) rs149304901
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.2(USH2A):c.4714C>T (p.Leu1572Phe) rs111033333
NM_206933.2(USH2A):c.5118G>A (p.Trp1706Ter) rs1461319754
NM_206933.2(USH2A):c.5612G>A (p.Gly1871Asp) rs140895792
NM_206933.2(USH2A):c.5877delT (p.Ser1961Glnfs) rs727505343
NM_206933.2(USH2A):c.5975A>G (p.Tyr1992Cys) rs41303287
NM_206933.2(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394
NM_206933.2(USH2A):c.7301-6C>T rs375499259
NM_206933.2(USH2A):c.8522G>A (p.Trp2841Ter) rs1064797134
NM_206933.2(USH2A):c.9203T>C (p.Val3068Ala) rs146445078
NM_206933.2(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328
NM_207352.3(CYP4V2):c.1199G>A (p.Arg400His) rs199476203
NM_213599.2(ANO5):c.155A>G rs143777403
NM_213599.2(ANO5):c.1631-12_1631-2delTTAACTTAACA rs886043327
NM_213599.2(ANO5):c.2503_2505delTTC (p.Phe835del) rs794727350
NM_213599.2(ANO5):c.2698A>C (p.Met900Leu) rs148293985
NR_033294.1(SNORD118):n.145C>T rs201787275
m.8344A>G rs118192098

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