ClinVar Miner

Variants from Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine: Collection method of the submission from Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine:
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
10851 7622 86 3622 2422 63 372 5974

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
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective risk factor other
pathogenic 27 182 27 3 2 0 1 0 5 1
likely pathogenic 243 1 72 3 0 0 1 0 2 0
uncertain significance 96 173 24 876 221 0 5 0 3 4
likely benign 7 8 1106 3 1209 0 4 0 4 2
benign 8 3 350 1988 31 1 4 2 11 5
drug response 1 1 0 0 0 0 0 1 0 0
risk factor 7 0 2 0 1 1 0 0 0 0

Submitter to submitter summary #

Total submitters: 155
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
GeneDx 0 5058 0 1281 749 1 131 2162
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 2594 0 422 727 6 27 1182
Invitae 0 2945 0 544 292 3 58 897
Integrated Genetics/Laboratory Corporation of America 0 1368 0 553 223 1 3 780
Genetic Services Laboratory, University of Chicago 0 450 0 495 86 1 1 583
Ambry Genetics 0 1883 0 271 223 0 14 508
CeGaT Praxis fuer Humangenetik Tuebingen 0 687 0 154 314 2 35 505
Athena Diagnostics Inc 0 1339 0 260 111 0 2 373
Illumina Clinical Services Laboratory,Illumina 0 352 0 213 117 2 28 360
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1467 0 190 143 1 20 354
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 480 57 109 171 0 0 337
PreventionGenetics, PreventionGenetics 0 2681 0 257 48 1 1 307
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 157 0 114 33 0 5 152
OMIM 0 181 0 43 4 35 18 98
Department of Pathology and Laboratory Medicine,Sinai Health System 0 123 0 14 71 1 2 88
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 205 0 54 29 0 2 85
Quest Diagnostics Nichols Institute San Juan Capistrano 0 141 0 25 50 1 4 80
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 167 0 5 48 0 12 65
Mayo Clinic Laboratories, Mayo Clinic 0 175 0 20 25 0 4 49
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 58 0 24 19 0 2 45
GeneReviews 0 44 27 7 0 1 1 36
Blueprint Genetics 0 80 0 9 6 0 12 27
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 18 0 7 18 0 0 25
CSER _CC_NCGL, University of Washington 0 31 0 6 15 0 1 22
Counsyl 0 41 0 17 1 0 2 20
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 16 0 6 6 0 8 20
Mendelics 0 58 0 10 3 1 3 17
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 18 0 5 0 0 12 17
NIHR Bioresource Rare Diseases, University of Cambridge 0 7 0 10 0 3 3 16
Fulgent Genetics,Fulgent Genetics 0 80 0 10 4 0 1 15
Center for Medical Genetics Ghent,University of Ghent 0 21 0 13 0 0 2 15
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 99 0 9 5 0 0 14
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 28 0 4 4 2 3 13
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 29 0 4 8 0 0 12
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 34 0 9 2 0 0 11
Baylor Genetics 0 74 0 7 0 2 1 10
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 1 1 0 8 10
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 19 0 5 4 0 0 9
Department of Ophthalmology and Visual Sciences Kyoto University 0 1 1 7 1 0 0 9
Database of Curated Mutations (DoCM) 0 20 0 9 0 0 0 9
PharmGKB 0 2 0 0 0 8 0 8
Service de Génétique Moléculaire,Hôpital Robert Debré 0 10 0 2 0 0 6 8
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 45 0 7 0 0 1 8
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 0 0 0 0 0 0 8 8
Reproductive Health Research and Development,BGI Genomics 0 20 0 7 0 1 0 8
Myriad Women's Health, Inc. 0 54 0 8 0 0 0 8
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 9 0 1 0 0 6 7
Center for Human Genetics,University of Leuven 0 28 0 6 0 0 1 7
Institute of Human Genetics, University of Leipzig Medical Center 0 16 0 4 0 0 3 7
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 27 0 6 0 0 1 7
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 14 0 6 1 0 0 7
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 7 0 3 2 0 1 6
University of Washington Center for Mendelian Genomics, University of Washington 0 4 0 4 0 0 2 6
CFTR-France 0 6 0 2 0 0 4 6
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 18 0 1 4 0 0 5
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 7 0 3 2 0 0 5
Gharavi Laboratory,Columbia University 0 8 0 0 4 0 1 5
University of Washington Department of Laboratory Medicine, University of Washington 0 12 0 4 1 0 0 5
Albrecht-Kossel-Institute,Medical University Rostock 0 0 0 0 0 4 0 4
Leiden Open Variation Database 0 3 0 2 2 0 0 4
Broad Institute Rare Disease Group, Broad Institute 0 14 0 1 2 0 1 4
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 14 0 4 0 0 0 4
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 15 0 3 1 0 0 4
Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino 0 2 0 0 4 0 0 4
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 3 0 0 0 3
Natera, Inc. 0 72 0 2 0 0 1 3
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 31 0 3 0 0 0 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 9 0 2 0 1 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 0 12 0 3 0 0 0 3
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 0 0 0 2 1 0 0 3
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 16 0 3 0 0 0 3
Hadassah Hebrew University Medical Center 0 4 0 3 0 0 0 3
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 1 0 1 1 0 1 3
Department of Pathology and Molecular Medicine,Queen's University 0 18 0 1 2 0 0 3
Sharon lab,Hadassah-Hebrew University Medical Center 0 8 0 3 0 0 0 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 3 0 1 2 0 0 3
Johns Hopkins Genomics, Johns Hopkins University 0 11 0 3 0 0 0 3
Genetics and Genomics Program,Sidra Medicine 0 1 0 1 0 0 2 3
New York Genome Center 0 4 0 2 1 0 0 3
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 17 0 1 0 1 0 2
Collagen Diagnostic Laboratory,University of Washington 0 0 0 2 0 0 0 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 5 0 1 0 0 1 2
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 1 1 0 0 0 2
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 0 1 0 2 0 0 0 2
Aziz Sancar Institute of Experimental Medicine,Istanbul University 0 0 0 1 0 1 0 2
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 7 0 2 0 0 0 2
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 0 6 0 2 0 0 0 2
Color Health, Inc 0 0 0 1 0 0 1 2
Center for Statistical Genetics, Columbia University 0 0 0 1 0 0 1 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 2 0 0 0 2
SIB Swiss Institute of Bioinformatics 0 8 0 2 0 0 0 2
Yale Center for Mendelian Genomics,Yale University 0 0 0 0 0 0 2 2
Section on Medical Neuroendocrinolgy,National Institutes of Health 0 7 0 2 0 0 0 2
ClinGen RASopathy Variant Curation Expert Panel 0 27 0 2 0 0 0 2
Inherited Neuropathy Consortium 0 0 0 1 0 0 1 2
Medical Genetics Summaries 0 0 0 0 0 2 0 2
ClinGen Hearing Loss Variant Curation Expert Panel 0 6 0 1 1 0 0 2
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 0 2 0 2 0 0 0 2
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 0 0 2 0 0 2
Sydney Genome Diagnostics,Children's Hospital Westmead 0 2 0 2 0 0 0 2
Molecular Genetics Laboratory,Institute for Ophthalmic Research 0 3 0 1 0 0 0 1
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 5 0 0 1 0 0 1
Elsea Laboratory,Baylor College of Medicine 0 4 0 0 0 0 1 1
Human Developmental Genetics Laboratory,Medical College of Wisconsin 0 0 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 7 0 0 0 0 1 1
Centogene AG - the Rare Disease Company 0 9 0 1 0 0 0 1
CFTR2 0 7 0 1 0 0 0 1
UniProtKB/Swiss-Prot 0 3 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 1 0 0 0 0 1 1
GenMed Metabolism Lab 0 0 0 0 0 0 1 1
RettBASE 0 1 0 1 0 0 0 1
Wellcome Centre for Mitochondrial Research,Newcastle University 0 1 0 1 0 0 0 1
Molecular Genetics and Enzymology, National Research Centre 0 0 0 0 0 0 1 1
Center for Genetic Medicine Research,Children's National Medical Center 0 1 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
Foundation Medicine, Inc. 0 0 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 1 0 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 1 0 0 0 1
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health 0 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 5 0 1 0 0 0 1
Medical Genetics, University of Parma 0 1 0 0 0 0 1 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 2 0 1 0 0 0 1
Universitätsklinikum Salzburg,Universitätskinderklinik 0 0 0 1 0 0 0 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 0 0 0 0 0 1 1
Research and Development, ARUP Laboratories 0 16 0 0 1 0 0 1
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 0 1 0 1 0 0 0 1
Herman Laboratory,Nationwide Children's Hospital 0 2 0 1 0 0 0 1
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 0 1 0 0 1
Snyder Lab, Genetics Department,Stanford University 0 0 0 1 0 0 0 1
Dan Cohn Lab,University Of California Los Angeles 0 0 0 1 0 0 0 1
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 0 1 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 8 0 1 0 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 0 0 0 1 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 4 0 1 0 0 0 1
Biomedical Innovation Departament, CIEMAT 0 0 0 1 0 0 0 1
CIViC knowledgebase,Washington University School of Medicine 0 3 0 1 0 0 0 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 0 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 2 0 1 0 0 0 1
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 0 0 1 0 0 0 1
ClinGen PTEN Variant Curation Expert Panel 0 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 1 0 1 0 0 0 1
Bruce Budowle Laboratory,University of North Texas Health Science Center 0 0 0 0 0 1 0 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 3 0 0 1 0 0 1
Klaassen Lab,Charite University Medicine Berlin 0 0 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 1 0 0 0 0 1 1
CZECANCA consortium 0 1 0 0 0 1 0 1
Division of Medical Genetics, University of Washington 0 0 0 1 0 0 0 1
Nilou-Genome Lab 0 1 0 1 0 0 0 1
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 1 0 0 0 1
LifeCell International Pvt. Ltd 0 0 0 1 0 0 0 1
Department of Vascular Biology,Beijing Anzhen Hospital 0 2 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 5974
Download table as spreadsheet
HGVS dbSNP
NC_012920.1:m.1494C>T rs267606619
NC_012920.1:m.1555A>G rs267606617
NM_000014.5(A2M):c.2126-6_2126-2del rs1799759
NM_000016.5(ACADM):c.600-18G>A rs370523609
NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) rs121434274
NM_000016.6(ACADM):c.199T>C (p.Tyr67His) rs121434280
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer) rs886041796
NM_000022.4(ADA):c.704G>A (p.Arg235Gln) rs79281338
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623
NM_000026.4(ADSL):c.153+1G>T rs1555903969
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000037.4(ANK1):c.5544+91C>T rs72638959
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567
NM_000038.6(APC):c.1604C>T (p.Ser535Phe) rs75870842
NM_000038.6(APC):c.1631T>C (p.Ile544Thr) rs144056494
NM_000038.6(APC):c.1743+6T>C rs766973462
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176
NM_000038.6(APC):c.2805C>T (p.Tyr935=) rs137854575
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838
NM_000038.6(APC):c.317G>A (p.Arg106His) rs201764637
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys) rs201004111
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000038.6(APC):c.4237A>G (p.Met1413Val) rs141519952
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu) rs111866410
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp) rs200794097
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys) rs754691867
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417
NM_000038.6(APC):c.6679G>T (p.Gly2227Cys) rs367905430
NM_000038.6(APC):c.6873A>T (p.Gln2291His) rs148878262
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287
NM_000038.6(APC):c.7717A>G (p.Ile2573Val) rs145444830
NM_000038.6(APC):c.933+5C>A rs573528468
NM_000041.4(APOE):c.388T>C (p.Cys130Arg) rs429358
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly) rs201101343
NM_000048.4(ASL):c.578G>A (p.Arg193Gln) rs373697663
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279
NM_000049.4(ASPA):c.876_879del (p.Glu293fs) rs766720790
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met) rs750019452
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496
NM_000054.6(AVPR2):c.26-6T>G rs56689668
NM_000055.2(BCHE):c.1253G>T (p.Gly418Val) rs28933390
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807
NM_000057.4(BLM):c.2555+7T>C rs3815003
NM_000057.4(BLM):c.3102G>A (p.Thr1034=) rs2227933
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) rs2227934
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) rs1063147
NM_000057.4(BLM):c.98+1G>C rs750293380
NM_000059.3(BRCA2):c.7976+1G>A rs81002873
NM_000059.4(BRCA2):c.10045A>G (p.Thr3349Ala) rs80358387
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met) rs55853199
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.1151C>T (p.Ser384Phe) rs41293475
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val) rs11571653
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del) rs80359432
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=) rs41293491
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561
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.5744C>T (p.Thr1915Met) rs4987117
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr) rs80358833
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074
NM_000059.4(BRCA2):c.68-7T>A rs81002830
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu) rs80359228
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln) rs11571640
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719
NM_000070.3(CAPN3):c.318C>T (p.Cys106=) rs117609395
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) rs1801505
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496
NM_000071.3(CBS):c.*540G>A rs111386779
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181
NM_000071.3(CBS):c.531+11G>A rs186114513
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420
NM_000077.4(CDKN2A):c.-25C>T rs144481587
NM_000077.4(CDKN2A):c.150+37G>C rs45456595
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) rs144169073
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271
NM_000085.4(CLCNKB):c.1877G>A (p.Cys626Tyr) rs143663847
NM_000085.4(CLCNKB):c.577-5C>T rs1889788
NM_000090.3(COL3A1):c.1384G>A (p.Gly462Ser) rs587779633
NM_000090.3(COL3A1):c.1763G>A (p.Gly588Asp) rs587779691
NM_000090.4(COL3A1):c.1051-13G>A rs371934572
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.4(COL3A1):c.2267G>A (p.Gly756Glu) rs1576468562
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000091.4(COL4A3):c.2501A>G (p.Lys834Arg) rs56226424
NM_000091.4(COL4A3):c.2886C>T (p.Phe962=) rs77846212
NM_000091.4(COL4A3):c.3270A>C (p.Pro1090=) rs201989155
NM_000091.4(COL4A3):c.3325C>T (p.Pro1109Ser) rs55816283
NM_000091.4(COL4A3):c.346C>A (p.Pro116Thr) rs115324397
NM_000091.4(COL4A3):c.3627G>A (p.Met1209Ile) rs200562865
NM_000091.4(COL4A3):c.3825C>T (p.His1275=) rs143380907
NM_000091.4(COL4A3):c.3939G>A (p.Gly1313=) rs141552752
NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000091.4(COL4A3):c.4445C>T (p.Ala1482Val) rs199755408
NM_000091.4(COL4A3):c.4707A>T (p.Pro1569=) rs113401495
NM_000091.5(COL4A3):c.1886C>T rs139361545
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074
NM_000091.5(COL4A3):c.3476G>A (p.Arg1159His) rs145948549
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg) rs77964815
NM_000092.4(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949
NM_000092.4(COL4A4):c.198A>G (p.Pro66=) rs147947155
NM_000092.4(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.4(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437
NM_000092.4(COL4A4):c.2907A>C (p.Ser969=) rs116354015
NM_000092.4(COL4A4):c.4217-15T>C rs200926310
NM_000092.4(COL4A4):c.4349T>C (p.Ile1450Thr) rs72969704
NM_000092.4(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000092.4(COL4A4):c.5016A>G (p.Glu1672=) rs34761049
NM_000092.4(COL4A4):c.50A>G (p.Lys17Arg) rs114969026
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu) rs13027659
NM_000092.5(COL4A4):c.3963T>C (p.Asp1321=) rs116124529
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_000094.3(COL7A1):c.6005G>A (p.Arg2002His) rs768326843
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) rs556794126
NM_000104.3(CYP1B1):c.1103G>A (p.Arg368His) rs79204362
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915
NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile) rs267607134
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr) rs200405157
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788
NM_000117.3(EMD):c.144C>T (p.Leu48=) rs200537612
NM_000117.3(EMD):c.272A>G (p.Asn91Ser) rs137977232
NM_000117.3(EMD):c.396C>T (p.His132=) rs145985318
NM_000117.3(EMD):c.400-9C>T rs782061626
NM_000117.3(EMD):c.646G>A (p.Gly216Arg) rs147920229
NM_000118.3(ENG):c.732C>T (p.Pro244=) rs112262663
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025
NM_000130.5(F5):c.6443T>C (p.Met2148Thr) rs9332701
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000137.4(FAH):c.1062+5G>A rs80338901
NM_000138.4(FBN1):c.3082+8del rs193922196
NM_000138.4(FBN1):c.902G>T (p.Gly301Val) rs142888621
NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys) rs137854485
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.1746C>T (p.Cys582=) rs112366266
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys) rs397515764
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) rs727503057
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp) rs140603
NM_000138.5(FBN1):c.2175T>C (p.Asn725=) rs140606
NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr) rs397515775
NM_000138.5(FBN1):c.2895G>A (p.Glu965=) rs140591
NM_000138.5(FBN1):c.2927G>A (p.Arg976His) rs140954477
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730
NM_000138.5(FBN1):c.3012C>G (p.Tyr1004Ter) rs397515784
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg) rs140593
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala) rs111801777
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587
NM_000138.5(FBN1):c.3337+1G>A rs397515789
NM_000138.5(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241
NM_000138.5(FBN1):c.3423G>A (p.Pro1141=) rs140396599
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.5(FBN1):c.4222T>C (p.Cys1408Arg) rs397515802
NM_000138.5(FBN1):c.4259G>A (p.Cys1420Tyr) rs397515804
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.4467T>A (p.Asn1489Lys) rs193922205
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=) rs148024160
NM_000138.5(FBN1):c.4750G>A (p.Glu1584Lys) rs148888513
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=) rs113115949
NM_000138.5(FBN1):c.4955G>A (p.Cys1652Tyr) rs397515817
NM_000138.5(FBN1):c.5065+10A>G rs375945405
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=) rs397515822
NM_000138.5(FBN1):c.5788+10C>A rs371560107
NM_000138.5(FBN1):c.5788+5G>A rs193922219
NM_000138.5(FBN1):c.5959G>C (p.Gly1987Arg) rs727504642
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys) rs201309310
NM_000138.5(FBN1):c.6288C>T (p.Cys2096=) rs144822241
NM_000138.5(FBN1):c.6314-15G>A rs200841830
NM_000138.5(FBN1):c.6379+1G>A rs397515833
NM_000138.5(FBN1):c.6446A>G (p.Tyr2149Cys) rs113080385
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) rs111844882
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.5(FBN1):c.7346A>G (p.Asn2449Ser) rs146166400
NM_000138.5(FBN1):c.7379A>G (p.Lys2460Arg) rs144189837
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg) rs397515854
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_000138.5(FBN1):c.7950T>C (p.Asn2650=) rs143055643
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr) rs25397
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) rs363847
NM_000147.4(FUCA1):c.29C>G (p.Pro10Arg) rs2070956
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000157.4(GBA):c.1093G>A (p.Glu365Lys) rs2230288
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432
NM_000169.2(GLA):c.335G>A (p.Arg112His) rs372966991
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) rs869312162
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr) rs144994244
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser) rs727504348
NM_000169.3(GLA):c.129C>T (p.Gly43=) rs146177035
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489
NM_000169.3(GLA):c.386T>C (p.Leu129Pro) rs727503072
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.3(GLA):c.427G>C (p.Ala143Pro) rs104894845
NM_000169.3(GLA):c.639+6A>C rs200096940
NM_000169.3(GLA):c.640-801G>A rs199473684
NM_000169.3(GLA):c.714T>C (p.Ser238=) rs397515872
NM_000169.3(GLA):c.758T>C (p.Ile253Thr) rs727505292
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000169.3(GLA):c.945C>T (p.Asp315=) rs151208856
NM_000169.3(GLA):c.978G>A (p.Lys326=) rs151195362
NM_000170.2(GLDC):c.128del (p.Asp43fs) rs1251443902
NM_000170.2(GLDC):c.2033_2035del (p.Ala678del) rs769625871
NM_000179.2(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.2(MSH6):c.3980A>G (p.Asn1327Ser) rs780187989
NM_000179.3(MSH6):c.1164C>T (p.His388=) rs55708305
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005
NM_000179.3(MSH6):c.2272C>T (p.Leu758=) rs56371757
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met) rs34374438
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser) rs63750998
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.3(MSH6):c.3439-2A>G rs267608098
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val) rs63750252
NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser) rs587779285
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met) rs63750836
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278
NM_000179.3(MSH6):c.4002-10T>A rs545466048
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000179.3(MSH6):c.59C>T (p.Ala20Val) rs63750664
NM_000179.3(MSH6):c.73G>T (p.Ala25Ser) rs267608026
NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu) rs267608079
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg) rs267608051
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter) rs146816935
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902
NM_000195.5(HPS1):c.11T>C (p.Val4Ala) rs58548334
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000204.5(CFI):c.1534+5G>T rs114013791
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu) rs193922358
NM_000213.5(ITGB4):c.2783-2A>G rs758551913
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678
NM_000214.3(JAG1):c.588C>T (p.Cys196=) rs1801138
NM_000215.4(JAK3):c.452C>G (p.Pro151Arg) rs55778349
NM_000218.2(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000218.3(KCNQ1):c.-5T>C rs532941548
NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) rs1805118
NM_000218.3(KCNQ1):c.1129-8G>A rs200612600
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.3(KCNQ1):c.1394-8C>T rs371488379
NM_000218.3(KCNQ1):c.1514+7G>T rs372593469
NM_000218.3(KCNQ1):c.1590+14T>C rs11024034
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile) rs750409379
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=) rs147091980
NM_000218.3(KCNQ1):c.1860C>T (p.His620=) rs139893266
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907
NM_000218.3(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000218.3(KCNQ1):c.225T>C (p.Val75=) rs367817352
NM_000218.3(KCNQ1):c.328G>A (p.Val110Ile) rs199472677
NM_000218.3(KCNQ1):c.447C>T (p.Ala149=) rs146436765
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=) rs148121889
NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=) rs139042529
NM_000218.3(KCNQ1):c.605-11G>A rs200828849
NM_000218.3(KCNQ1):c.811C>T (p.Leu271=) rs189991547
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val) rs199472728
NM_000219.6(KCNE1):c.162C>T (p.Phe54=) rs17173508
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) rs199473645
NM_000219.6(KCNE1):c.30G>A (p.Thr10=) rs187686559
NM_000219.6(KCNE1):c.315G>A (p.Ser105=) rs563859144
NM_000219.6(KCNE1):c.374C>T (p.Thr125Met) rs142511345
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510
NM_000231.2(SGCG):c.195+4_195+7del rs797045106
NM_000231.3(SGCG):c.*13C>T rs9510701
NM_000231.3(SGCG):c.228T>C (p.Asp76=) rs1800350
NM_000231.3(SGCG):c.347G>A (p.Arg116His) rs17314986
NM_000236.3(LIPC):c.866C>T (p.Ser289Phe) rs121912502
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684
NM_000238.4(KCNH2):c.2246G>T (p.Gly749Val) rs199472989
NM_000238.4(KCNH2):c.2750C>T (p.Pro917Leu) rs76420733
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) rs199472864
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1]) rs551056698
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476
NM_000246.3(CIITA):c.2888+1G>A rs372826934
NM_000249.4(MLH1):c.-28A>G rs56198082
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser) rs63751467
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn) rs201541505
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) rs63750447
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala) rs202038499
NM_000249.4(MLH1):c.1668-1G>A rs267607845
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly) rs63751612
NM_000249.4(MLH1):c.1742C>T (p.Pro581Leu) rs63751684
NM_000249.4(MLH1):c.1820T>A (p.Leu607His) rs41295284
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg) rs63750702
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873
NM_000249.4(MLH1):c.394G>C (p.Asp132His) rs28930073
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly) rs63750650
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049
NM_000250.2(MPO):c.2031-2A>C rs35897051
NM_000251.2(MSH2):c.942+20_942+29del rs11309117
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe) rs17224367
NM_000251.3(MSH2):c.1251_1268delinsAGTT (p.Ile418fs) rs863225388
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261
NM_000251.3(MSH2):c.1511-41G>C rs202215396
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala) rs55778204
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910
NM_000251.3(MSH2):c.2579C>T (p.Ser860Leu) rs63750849
NM_000251.3(MSH2):c.304G>A (p.Val102Ile) rs193922373
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124
NM_000251.3(MSH2):c.645+3A>G rs587779168
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999
NM_000252.3(MTM1):c.1260+3G>A rs222410
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076
NM_000256.3(MYBPC3):c.1224-52G>A
NM_000256.3(MYBPC3):c.1227-10C>T rs374673836
NM_000256.3(MYBPC3):c.1286C>T (p.Ala429Val) rs370412052
NM_000256.3(MYBPC3):c.12G>A (p.Pro4=) rs377292092
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377
NM_000256.3(MYBPC3):c.1351+1G>A rs727503204
NM_000256.3(MYBPC3):c.1351+2T>C rs397515897
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114
NM_000256.3(MYBPC3):c.1418T>C (p.Phe473Ser) rs397515900
NM_000256.3(MYBPC3):c.1458-7C>T rs397515904
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly) rs397515905
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly) rs373164247
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr) rs11570082
NM_000256.3(MYBPC3):c.1602G>A (p.Ala534=) rs370945942
NM_000256.3(MYBPC3):c.1624+2T>C rs111437311
NM_000256.3(MYBPC3):c.1654G>T (p.Ala552Ser) rs727504887
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln) rs727503195
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=) rs397515929
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn) rs376736293
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555
NM_000256.3(MYBPC3):c.1869C>T (p.Cys623=) rs397515932
NM_000256.3(MYBPC3):c.1934C>T (p.Pro645Leu) rs397515938
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His) rs727503191
NM_000256.3(MYBPC3):c.2148+6_2148+9del rs397515949
NM_000256.3(MYBPC3):c.2149-8C>G rs397515950
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) rs727503188
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) rs2856655
NM_000256.3(MYBPC3):c.246T>C (p.Ile82=) rs372502369
NM_000256.3(MYBPC3):c.2487G>T (p.Leu829=) rs201040413
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688
NM_000256.3(MYBPC3):c.2573G>A (p.Ser858Asn) rs727503185
NM_000256.3(MYBPC3):c.2640C>T (p.Asp880=) rs397515980
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470
NM_000256.3(MYBPC3):c.284T>C (p.Ile95Thr) rs727504945
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380
NM_000256.3(MYBPC3):c.2873C>T (p.Thr958Ile) rs376504548
NM_000256.3(MYBPC3):c.2905+5G>T rs193922381
NM_000256.3(MYBPC3):c.2906-2A>G rs727504333
NM_000256.3(MYBPC3):c.290C>T (p.Ala97Val) rs397515993
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112
NM_000256.3(MYBPC3):c.2995-5C>G rs376083315
NM_000256.3(MYBPC3):c.2997C>T (p.Gly999=) rs377283955
NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp) rs3729799
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys) rs61729664
NM_000256.3(MYBPC3):c.3107G>A (p.Arg1036His) rs374255381
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met) rs371061770
NM_000256.3(MYBPC3):c.3229G>A (p.Ala1077Thr) rs397516009
NM_000256.3(MYBPC3):c.3276C>T (p.Val1092=) rs376344765
NM_000256.3(MYBPC3):c.3285G>A (p.Thr1095=) rs367927327
NM_000256.3(MYBPC3):c.3315C>T (p.Ala1105=) rs200372325
NM_000256.3(MYBPC3):c.3330+5G>T rs373746463
NM_000256.3(MYBPC3):c.3331-1G>A rs727504305
NM_000256.3(MYBPC3):c.3362G>A (p.Arg1121His) rs397516018
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr) rs370890951
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120
NM_000256.3(MYBPC3):c.3491-2A>T rs397516022
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_000256.3(MYBPC3):c.3672C>T (p.Asp1224=) rs368221517
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636
NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=) rs200162906
NM_000256.3(MYBPC3):c.3735del (p.Phe1246fs) rs397516038
NM_000256.3(MYBPC3):c.3746G>T (p.Gly1249Val) rs727504259
NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys) rs730880603
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.3G>C (p.Met1Ile) rs397516045
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050
NM_000256.3(MYBPC3):c.450C>T (p.Pro150=) rs377520770
NM_000256.3(MYBPC3):c.46C>T (p.Pro16Ser) rs730880573
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=) rs150291001
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692
NM_000256.3(MYBPC3):c.481C>A (p.Pro161Thr) rs397516053
NM_000256.3(MYBPC3):c.501C>T (p.Thr167=) rs397516054
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766
NM_000256.3(MYBPC3):c.604A>C (p.Lys202Gln) rs730880623
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) rs201098973
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly) rs138753870
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser) rs397516070
NM_000256.3(MYBPC3):c.772+10C>T rs375525278
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.833del (p.Gly278fs) rs727503212
NM_000256.3(MYBPC3):c.852-10C>G rs750425291
NM_000256.3(MYBPC3):c.906-7G>T rs397516079
NM_000256.3(MYBPC3):c.926+8C>T rs377595584
NM_000256.3(MYBPC3):c.933G>C (p.Ser311=) rs374326087
NM_000256.3(MYBPC3):c.93C>T (p.Ala31=) rs397516085
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776
NM_000257.4(MYH7):c.1000-7C>T rs200129563
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781
NM_000257.4(MYH7):c.1012G>A (p.Val338Met) rs727503271
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1148A>G (p.Lys383Arg) rs397516092
NM_000257.4(MYH7):c.114C>T (p.Phe38=) rs146210693
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719
NM_000257.4(MYH7):c.1283C>T (p.Ala428Val) rs727503266
NM_000257.4(MYH7):c.1318G>A (p.Val440Met) rs397516098
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met) rs121913653
NM_000257.4(MYH7):c.1358G>A (p.Arg453His) rs397516101
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103
NM_000257.4(MYH7):c.1436A>G (p.Asn479Ser) rs727504236
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) rs267606911
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) rs606231324
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser) rs121913626
NM_000257.4(MYH7):c.1757T>C (p.Val586Ala) rs397516121
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816
NM_000257.4(MYH7):c.189C>T (p.Thr63=) rs2069540
NM_000257.4(MYH7):c.1969A>C (p.Lys657Gln) rs727503264
NM_000257.4(MYH7):c.1983C>T (p.Asn661=) rs146474860
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.4(MYH7):c.2052G>A (p.Met684Ile) rs727503262
NM_000257.4(MYH7):c.2069T>C (p.Met690Thr) rs397516128
NM_000257.4(MYH7):c.2091T>C (p.Gly697=) rs140380523
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2162+4G>A rs145738465
NM_000257.4(MYH7):c.2168G>A (p.Arg723His) rs397516135
NM_000257.4(MYH7):c.2183C>T (p.Ala728Val) rs121913644
NM_000257.4(MYH7):c.2198G>A (p.Gly733Glu) rs727504241
NM_000257.4(MYH7):c.2206A>G (p.Ile736Val) rs397516138
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr) rs727503261
NM_000257.4(MYH7):c.2221G>A (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2287G>A (p.Val763Met) rs727504253
NM_000257.4(MYH7):c.2334C>T (p.Asp778=) rs2069544
NM_000257.4(MYH7):c.2348G>A (p.Arg783His) rs397516142
NM_000257.4(MYH7):c.2358G>A (p.Thr786=) rs36211714
NM_000257.4(MYH7):c.2358G>T (p.Thr786=) rs36211714
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645
NM_000257.4(MYH7):c.240C>T (p.Asn80=) rs200493975
NM_000257.4(MYH7):c.2471T>C (p.Val824Ala) rs727503255
NM_000257.4(MYH7):c.2472C>T (p.Val824=) rs397516150
NM_000257.4(MYH7):c.2514G>A (p.Pro838=) rs45560638
NM_000257.4(MYH7):c.2525G>A (p.Ser842Asn) rs397516154
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu) rs727504310
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000257.4(MYH7):c.2555T>C (p.Met852Thr) rs397516157
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158
NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro) rs727504356
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.261C>T (p.Ile87=) rs148560996
NM_000257.4(MYH7):c.2644C>G (p.Gln882Glu) rs397516160
NM_000257.4(MYH7):c.2649GAA[1] (p.Lys884del) rs193922387
NM_000257.4(MYH7):c.2678C>A (p.Ala893Glu) rs727503254
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716
NM_000257.4(MYH7):c.2779G>A (p.Glu927Lys) rs397516170
NM_000257.4(MYH7):c.2782G>A (p.Asp928Asn) rs727503252
NM_000257.4(MYH7):c.2785GAG[2] (p.Glu931del) rs397516172
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) rs397516171
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496
NM_000257.4(MYH7):c.2907C>T (p.His969=) rs142573531
NM_000257.4(MYH7):c.2922G>A (p.Lys974=) rs147727900
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615
NM_000257.4(MYH7):c.2967T>C (p.Ile989=) rs7157716
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) rs45611033
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu) rs397516178
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln) rs587782962
NM_000257.4(MYH7):c.327C>T (p.Tyr109=) rs36211408
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000257.4(MYH7):c.3346G>A (p.Glu1116Lys) rs727504274
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236
NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr) rs199552354
NM_000257.4(MYH7):c.341T>C (p.Ile114Thr) rs730880833
NM_000257.4(MYH7):c.3726+6C>T rs377745688
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) rs574005462
NM_000257.4(MYH7):c.3853+7C>T rs45467397
NM_000257.4(MYH7):c.3918C>T (p.Leu1306=) rs144420313
NM_000257.4(MYH7):c.3972+15C>T rs3729820
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) rs141764279
NM_000257.4(MYH7):c.3993C>T (p.His1331=) rs200288088
NM_000257.4(MYH7):c.4005G>A (p.Ser1335=) rs144465613
NM_000257.4(MYH7):c.4031G>A (p.Arg1344Gln) rs797045097
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246
NM_000257.4(MYH7):c.4124A>G (p.Tyr1375Cys) rs727503245
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln) rs727504325
NM_000257.4(MYH7):c.4182C>T (p.Ala1394=) rs765895405
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=) rs200852418
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=) rs3729821
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln) rs397516207
NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys) rs397516208
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209
NM_000257.4(MYH7):c.4293C>T (p.Asp1431=) rs45560242
NM_000257.4(MYH7):c.4353+10G>A rs202205780
NM_000257.4(MYH7):c.4354-7C>T rs370093487
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101
NM_000257.4(MYH7):c.438G>T (p.Lys146Asn) rs397516212
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val) rs397516214
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=) rs61737803
NM_000257.4(MYH7):c.4470G>C (p.Glu1490Asp) rs730880911
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823
NM_000257.4(MYH7):c.4487A>C (p.Glu1496Ala) rs397516218
NM_000257.4(MYH7):c.452C>T (p.Pro151Leu) rs730880837
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=) rs2754155
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter) rs397516225
NM_000257.4(MYH7):c.4618C>T (p.Leu1540=) rs368734580
NM_000257.4(MYH7):c.4644+3G>A rs397516226
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=) rs7140196
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=) rs142034311
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700
NM_000257.4(MYH7):c.4827C>T (p.Asn1609=) rs587781085
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr) rs141122361
NM_000257.4(MYH7):c.4911C>T (p.Ala1637=) rs151113658
NM_000257.4(MYH7):c.4974C>T (p.Asp1658=) rs374289523
NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp) rs121913650
NM_000257.4(MYH7):c.5380C>G (p.Gln1794Glu) rs397516247
NM_000257.4(MYH7):c.5399C>T (p.Ala1800Val) rs730880817
NM_000257.4(MYH7):c.5559+4C>T rs727504319
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met) rs372381770
NM_000257.4(MYH7):c.5562G>A (p.Thr1854=) rs368706722
NM_000257.4(MYH7):c.5690G>A (p.Arg1897His) rs727503240
NM_000257.4(MYH7):c.5718A>C (p.Ala1906=) rs45523233
NM_000257.4(MYH7):c.5736C>T (p.Ile1912=) rs200728597
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) rs397516254
NM_000257.4(MYH7):c.596C>T (p.Ala199Val) rs727504283
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541
NM_000257.4(MYH7):c.611G>A (p.Arg204His) rs397516260
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu) rs397516260
NM_000257.4(MYH7):c.707T>C (p.Val236Ala) rs397516262
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091
NM_000257.4(MYH7):c.725C>G (p.Ser242Cys) rs730880921
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) rs397516265
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910
NM_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000257.4(MYH7):c.767G>A (p.Gly256Glu) rs121913633
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570
NM_000257.4(MYH7):c.848A>G (p.Tyr283Cys) rs727503274
NM_000257.4(MYH7):c.930T>C (p.Tyr310=) rs111626355
NM_000257.4(MYH7):c.957C>T (p.Thr319=) rs368699342
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly) rs139794067
NM_000258.3(MYL3):c.184G>A (p.Asp62Asn) rs730880954
NM_000258.3(MYL3):c.281G>A (p.Arg94His) rs199474703
NM_000258.3(MYL3):c.307+15C>T rs184025552
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750
NM_000258.3(MYL3):c.477G>T (p.Thr159=) rs148365503
NM_000258.3(MYL3):c.482-14C>A rs201780962
NM_000258.3(MYL3):c.532G>A (p.Asp178Asn) rs145520567
NM_000258.3(MYL3):c.559+6C>T rs199474709
NM_000258.3(MYL3):c.81T>C (p.Pro27=) rs147584015
NM_000260.4(MYO7A):c.1126A>G (p.Ile376Val) rs368716988
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511
NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln) rs782023308
NM_000260.4(MYO7A):c.1554+8G>A rs111033227
NM_000260.4(MYO7A):c.1606G>A (p.Ala536Thr) rs201046979
NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn) rs187165412
NM_000260.4(MYO7A):c.1854G>A (p.Leu618=) rs35429535
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys) rs397516292
NM_000260.4(MYO7A):c.2106C>T (p.Arg702=) rs369787754
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) rs397516293
NM_000260.4(MYO7A):c.2181T>C (p.Phe727=) rs373656667
NM_000260.4(MYO7A):c.2187+1G>A rs111033290
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn) rs36090425
NM_000260.4(MYO7A):c.2283G>A (p.Arg761=) rs111033229
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met) rs201203036
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His) rs148343670
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser) rs781790246
NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys) rs375510570
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.2656G>A (p.Ala886Thr)
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) rs201489714
NM_000260.4(MYO7A):c.285+2T>C rs782292032
NM_000260.4(MYO7A):c.2863G>A (p.Gly955Ser) rs781988557
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606
NM_000260.4(MYO7A):c.3042G>T (p.Thr1014=) rs111033507
NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg) rs60103800
NM_000260.4(MYO7A):c.3246G>A (p.Thr1082=) rs35963362
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=) rs116892396
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) rs367668576
NM_000260.4(MYO7A):c.3404C>A (p.Ser1135Tyr) rs376688581
NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=) rs201834743
NM_000260.4(MYO7A):c.3476G>T (p.Gly1159Val) rs199897298
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln) rs797044516
NM_000260.4(MYO7A):c.3543_3544dup (p.Asn1182fs) rs111033390
NM_000260.4(MYO7A):c.3591_3592del (p.Cys1198fs) rs1555090368
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178
NM_000260.4(MYO7A):c.3750+7G>A rs397516305
NM_000260.4(MYO7A):c.3750+9G>A rs111033252
NM_000260.4(MYO7A):c.380T>C (p.Ile127Thr) rs41298131
NM_000260.4(MYO7A):c.3864C>T (p.Ala1288=) rs144657938
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg) rs727503329
NM_000260.4(MYO7A):c.3978C>T (p.Cys1326=) rs111033376
NM_000260.4(MYO7A):c.397dup (p.His133fs) rs111033187
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) rs111033181
NM_000260.4(MYO7A):c.4153-10C>G rs397516306
NM_000260.4(MYO7A):c.4153-7C>A rs369489756
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile) rs397516309
NM_000260.4(MYO7A):c.4441+7C>T rs372493678
NM_000260.4(MYO7A):c.448C>A (p.Arg150=) rs121965079
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) rs757460257
NM_000260.4(MYO7A):c.4544_4551delinsCA (p.Glu1515_Met1517delinsAla) rs111033259
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val) rs111033511
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met) rs41298747
NM_000260.4(MYO7A):c.4698G>A (p.Thr1566=) rs200207753
NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser) rs201251963
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) rs1052030
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944
NM_000260.4(MYO7A):c.4845C>A (p.Pro1615=) rs61900036
NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=) rs372535399
NM_000260.4(MYO7A):c.4857C>T (p.Gly1619=)
NM_000260.4(MYO7A):c.486C>T (p.Ala162=) rs367687624
NM_000260.4(MYO7A):c.4916C>T (p.Thr1639Met) rs200848641
NM_000260.4(MYO7A):c.4992C>T (p.Thr1664=) rs181573957
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val) rs199561332
NM_000260.4(MYO7A):c.510G>A (p.Leu170=) rs34477144
NM_000260.4(MYO7A):c.514C>T (p.Leu172=) rs368246776
NM_000260.4(MYO7A):c.5169-6C>T rs768594224
NM_000260.4(MYO7A):c.5172C>G (p.Pro1724=) rs727505004
NM_000260.4(MYO7A):c.5208dup (p.Lys1737fs) rs111033276
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=) rs111033477
NM_000260.4(MYO7A):c.5227C>A (p.Arg1743=) rs111033287
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=) rs377388669
NM_000260.4(MYO7A):c.5324T>C (p.Ile1775Thr) rs115123584
NM_000260.4(MYO7A):c.5559C>T (p.His1853=) rs373612656
NM_000260.4(MYO7A):c.5598C>A (p.Leu1866=) rs111033504
NM_000260.4(MYO7A):c.5598C>T (p.Leu1866=) rs111033504
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322
NM_000260.4(MYO7A):c.5824G>T (p.Gly1942Ter) rs111033192
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185
NM_000260.4(MYO7A):c.5899C>T (p.Arg1967Ter) rs376764423
NM_000260.4(MYO7A):c.5904C>T (p.His1968=) rs41298753
NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=) rs397516327
NM_000260.4(MYO7A):c.6214G>A (p.Val2072Ile) rs200313391
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile) rs377670513
NM_000260.4(MYO7A):c.6439-2A>G rs397516330
NM_000260.4(MYO7A):c.6614_6634dup (p.Met2205_Ser2211dup) rs111033388
NM_000260.4(MYO7A):c.6615G>A (p.Met2205Ile) rs200359303
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg) rs184866544
NM_000260.4(MYO7A):c.849+7C>G rs370740228
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) rs797044491
NM_000261.2(MYOC):c.1193A>G (p.Lys398Arg) rs56314834
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564
NM_000267.3(NF1):c.*4T>C rs201044568
NM_000267.3(NF1):c.7532C>T (p.Ala2511Val) rs148154172
NM_000268.4(NF2):c.240+15C>T rs200701337
NM_000270.4(PNP):c.286-18G>A rs1026474882
NM_000271.5(NPC1):c.1628C>T (p.Pro543Leu) rs369368181
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs) rs756815030
NM_000271.5(NPC1):c.3614C>G (p.Thr1205Arg) rs758902805
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330
NM_000275.3(OCA2):c.574-19A>G rs145242923
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857
NM_000277.3(PAH):c.842+5G>A rs62516146
NM_000283.3(PDE6B):c.299G>A (p.Arg100His) rs555600300
NM_000283.4(PDE6B):c.1920+2T>C
NM_000285.4(PEPD):c.1342G>A (p.Gly448Arg) rs121917724
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802
NM_000289.6(PFKM):c.237+1G>A rs202143236
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser) rs141620200
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285
NM_000307.5(POU3F4):c.139C>T (p.Pro47Ser) rs144417952
NM_000310.4(PPT1):c.363-4G>A rs117284255
NM_000313.3(PROS1):c.1501T>C (p.Ser501Pro) rs121918472
NM_000314.8(PTEN):c.234C>T (p.Thr78=) rs35917308
NM_000314.8(PTEN):c.518G>A (p.Arg173His) rs121913294
NM_000314.8(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000321.3(RB1):c.1961-12T>C rs201697122
NM_000321.3(RB1):c.920C>T (p.Thr307Ile) rs183898408
NM_000321.3(RB1):c.929G>A (p.Gly310Glu) rs200844292
NM_000328.3(RPGR):c.141T>G (p.Ser47=) rs62638631
NM_000328.3(RPGR):c.223A>G (p.Ile75Val) rs111631988
NM_000335.4(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.4(SCN5A):c.3570G>A (p.Trp1190Ter) rs1237724419
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=) rs370346797
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=) rs41313703
NM_000335.5(SCN5A):c.1152C>T (p.Ser384=) rs372970828
NM_000335.5(SCN5A):c.1195C>T (p.Leu399=) rs369253900
NM_000335.5(SCN5A):c.1236C>T (p.Val412=) rs45565936
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) rs199473339
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230
NM_000335.5(SCN5A):c.1479G>A (p.Arg493=) rs138870926
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=) rs41313693
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=) rs45624133
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=) rs45522138
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.5(SCN5A):c.1734C>T (p.Pro578=) rs200868190
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=) rs41313687
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=) rs1204915217
NM_000335.5(SCN5A):c.1891-8G>A rs12720064
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu) rs41313681
NM_000335.5(SCN5A):c.2013C>T (p.Ser671=) rs751050999
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235
NM_000335.5(SCN5A):c.2437-13C>T rs45455099
NM_000335.5(SCN5A):c.2437-5C>A rs72549411
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584
NM_000335.5(SCN5A):c.2770G>A (p.Val924Ile) rs199473177
NM_000335.5(SCN5A):c.283G>A (p.Val95Ile) rs199473054
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His) rs199473592
NM_000335.5(SCN5A):c.3243G>A (p.Val1081=) rs41312407
NM_000335.5(SCN5A):c.3246C>T (p.Ser1082=) rs111422496
NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr) rs369704754
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu) rs1805125
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962
NM_000335.5(SCN5A):c.3344G>A (p.Arg1115Gln) rs369678002
NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=) rs9858585
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344
NM_000335.5(SCN5A):c.3618C>T (p.Phe1206=) rs184934308
NM_000335.5(SCN5A):c.3663+10T>C rs200656652
NM_000335.5(SCN5A):c.3748G>A (p.Val1250Met) rs199473600
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127
NM_000335.5(SCN5A):c.3879C>T (p.Ala1293=) rs372132916
NM_000335.5(SCN5A):c.3904C>A (p.Arg1302=) rs200334972
NM_000335.5(SCN5A):c.4083G>A (p.Arg1361=) rs377173580
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123
NM_000335.5(SCN5A):c.4279G>T (p.Ala1427Ser) rs200034939
NM_000335.5(SCN5A):c.4297-14T>C rs56104887
NM_000335.5(SCN5A):c.4299T>C (p.Tyr1433=) rs200556220
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=) rs45548237
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602
NM_000335.5(SCN5A):c.4745G>A (p.Arg1582His) rs199473621
NM_000335.5(SCN5A):c.4821C>T (p.Leu1607=) rs45437099
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=) rs45489099
NM_000335.5(SCN5A):c.5061C>T (p.Ile1687=) rs145731678
NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=) rs368980118
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp) rs199473044
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316
NM_000335.5(SCN5A):c.535C>T (p.Arg179Ter) rs1480085793
NM_000335.5(SCN5A):c.5604C>T (p.Asp1868=) rs560476223
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233
NM_000335.5(SCN5A):c.5793G>A (p.Ala1931=) rs200594132
NM_000335.5(SCN5A):c.5799C>T (p.Ser1933=) rs375254452
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.5(SCN5A):c.5882C>T (p.Pro1961Leu) rs199473638
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117
NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala) rs45489199
NM_000335.5(SCN5A):c.630G>A (p.Val210=) rs193922727
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) rs45620037
NM_000335.5(SCN5A):c.703+6A>G rs781104838
NM_000335.5(SCN5A):c.717C>T (p.Ile239=) rs41285129
NM_000335.5(SCN5A):c.856G>T (p.Ala286Ser) rs61746118
NM_000335.5(SCN5A):c.954C>T (p.Asn318=) rs372623225
NM_000336.3(SCNN1B):c.1706C>T (p.Ala569Val) rs140927806
NM_000336.3(SCNN1B):c.1765G>A (p.Gly589Ser) rs61759926
NM_000336.3(SCNN1B):c.777-5T>C rs61759915
NM_000337.5(SGCD):c.*2A>C rs200757725
NM_000337.5(SGCD):c.-179A>G rs77808502
NM_000337.5(SGCD):c.-303A>T rs7725121
NM_000337.5(SGCD):c.105G>C (p.Leu35=) rs193922392
NM_000337.5(SGCD):c.123C>G (p.Leu41=) rs200670993
NM_000337.5(SGCD):c.144G>C (p.Val48=) rs372152495
NM_000337.5(SGCD):c.193-12G>T rs727503421
NM_000337.5(SGCD):c.213G>A (p.Arg71=) rs74846539
NM_000337.5(SGCD):c.290G>A (p.Arg97Gln) rs45559835
NM_000337.5(SGCD):c.294+8T>C rs11748588
NM_000337.5(SGCD):c.383-11A>T rs727504584
NM_000337.5(SGCD):c.394G>A (p.Val132Ile) rs367819390
NM_000337.5(SGCD):c.451T>G (p.Ser151Ala) rs121909298
NM_000337.5(SGCD):c.45T>A (p.Pro15=) rs727505092
NM_000337.5(SGCD):c.507G>A (p.Ala169=) rs10071079
NM_000337.5(SGCD):c.699+13_699+15del rs397517924
NM_000337.5(SGCD):c.69C>T (p.Tyr23=) rs397517923
NM_000338.3(SLC12A1):c.2873T>C (p.Val958Ala) rs1552311
NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=) rs5398
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691
NM_000341.4(SLC3A1):c.1750del (p.Arg584fs) rs775827496
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) rs760549861
NM_000350.3(ABCA4):c.5714+5G>A rs61751407
NM_000350.3(ABCA4):c.5819T>C (p.Leu1940Pro) rs61753033
NM_000350.3(ABCA4):c.5836-11G>A rs1800739
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe) rs61751408
NM_000363.5(TNNI3):c.12-7del rs370714315
NM_000363.5(TNNI3):c.150+13G>A rs73617692
NM_000363.5(TNNI3):c.151-6C>G rs377258542
NM_000363.5(TNNI3):c.198G>A (p.Glu66=) rs3729710
NM_000363.5(TNNI3):c.204del (p.Arg69fs) rs727504872
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys) rs3729712
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401
NM_000363.5(TNNI3):c.25-4C>T rs202086705
NM_000363.5(TNNI3):c.25-8T>A rs3729836
NM_000363.5(TNNI3):c.273G>A (p.Ala91=) rs75491697
NM_000363.5(TNNI3):c.336C>T (p.Tyr112=) rs559450042
NM_000363.5(TNNI3):c.372+7C>T rs367809676
NM_000363.5(TNNI3):c.373-10= rs7252610
NM_000363.5(TNNI3):c.373-4C>G rs2288530
NM_000363.5(TNNI3):c.428C>A (p.Thr143Asn) rs397516348
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354
NM_000363.5(TNNI3):c.485G>C (p.Arg162Pro) rs397516354
NM_000363.5(TNNI3):c.526G>A (p.Val176Met) rs727503501
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys) rs397516355
NM_000363.5(TNNI3):c.550-10C>T rs201240150
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) rs104894727
NM_000363.5(TNNI3):c.592C>G (p.Leu198Val) rs727504285
NM_000363.5(TNNI3):c.610C>T (p.Arg204Cys) rs727504243
NM_000363.5(TNNI3):c.611G>A (p.Arg204His) rs727504275
NM_000363.5(TNNI3):c.6G>A (p.Ala2=) rs397516361
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) rs200754249
NM_000368.4(TSC1):c.-7C>T rs62621221
NM_000368.4(TSC1):c.201A>G (p.Pro67=) rs371555137
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile) rs77464996
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) rs7862221
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) rs118203670
NM_000368.5(TSC1):c.2646C>T (p.Ala882=) rs118203720
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter) rs118203434
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs) rs397515379
NM_000371.3(TTR):c.262A>T (p.Ile88Leu) rs121918085
NM_000371.3(TTR):c.384C>T (p.Ala128=) rs143906738
NM_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074
NM_000371.4(TTR):c.354C>T (p.Asn118=) rs11541797
NM_000371.4(TTR):c.371G>A (p.Arg124His) rs121918095
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981
NM_000371.4(TTR):c.417G>A (p.Thr139=) rs2276382
NM_000371.4(TTR):c.421GTC[1] (p.Val142del) rs121918096
NM_000371.4(TTR):c.68C>T (p.Thr23Met) rs377052919
NM_000372.5(TYR):c.1037-7T>A rs61754381
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000376.3(VDR):c.2T>C (p.Met1Thr) rs2228570
NM_000379.4(XDH):c.1686+1G>C rs148412639
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
NM_000384.3(APOB):c.11761G>A (p.Val3921Ile)
NM_000384.3(APOB):c.1223T>C (p.Ile408Thr)
NM_000384.3(APOB):c.13154G>A (p.Arg4385His) rs533755016
NM_000384.3(APOB):c.2068-4T>A rs41291161
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843
NM_000384.3(APOB):c.3427C>T (p.Pro1143Ser)
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser)
NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) rs541497967
NM_000384.3(APOB):c.6895G>C (p.Asp2299His)
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys) rs1801696
NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu) rs72653095
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746
NM_000392.5(ABCC2):c.2302C>T (p.Arg768Trp) rs56199535
NM_000395.3(CSF2RB):c.2124del (p.Ser709fs) rs568607741
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327
NM_000410.3(HFE):c.340+4T>C rs2071303
NM_000414.4(HSD17B4):c.1059G>A (p.Ala353=) rs57972893
NM_000414.4(HSD17B4):c.1210-8T>C rs34254740
NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val) rs28943590
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000414.4(HSD17B4):c.1767+8T>C rs190659146
NM_000414.4(HSD17B4):c.666C>G (p.Val222=) rs150677536
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=) rs192301957
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897
NM_000431.4(MVK):c.155G>A (p.Ser52Asn) rs7957619
NM_000431.4(MVK):c.405G>A (p.Ser135=) rs34368092
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys) rs199474808
NM_000432.4(MYL2):c.163G>T (p.Ala55Ser) rs727504425
NM_000432.4(MYL2):c.243G>T (p.Val81=) rs368851472
NM_000432.4(MYL2):c.275-14G>C rs375703502
NM_000432.4(MYL2):c.279G>A (p.Ala93=) rs28645088
NM_000432.4(MYL2):c.33G>A (p.Gly11=) rs199742269
NM_000432.4(MYL2):c.342G>A (p.Leu114=) rs199572927
NM_000432.4(MYL2):c.353+12C>A rs186323458
NM_000432.4(MYL2):c.355G>A (p.Val119Ile) rs730880940
NM_000432.4(MYL2):c.36C>T (p.Gly12=) rs139794370
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451
NM_000441.1(SLC26A4):c.349C>T rs145254330
NM_000441.2(SLC26A4):c.-103T>C rs60284988
NM_000441.2(SLC26A4):c.-3-2A>G rs397516411
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr) rs145467740
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met) rs397516414
NM_000441.2(SLC26A4):c.1264-1G>C rs111033311
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.1437+2T>G rs397516418
NM_000441.2(SLC26A4):c.1470C>T (p.Ile490=) rs140918297
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) rs756969021
NM_000441.2(SLC26A4):c.1488C>T (p.Leu496=) rs77407094
NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316
NM_000441.2(SLC26A4):c.1544+9C>T rs368970459
NM_000441.2(SLC26A4):c.1545-5T>G rs77944876
NM_000441.2(SLC26A4):c.1545-7del rs727503427
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) rs7811324
NM_000441.2(SLC26A4):c.1614+1G>C rs111033312
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=) rs111033193
NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr) rs146269871
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335
NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro) rs397516423
NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser) rs111033240
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met) rs143708308
NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly) rs757820624
NM_000441.2(SLC26A4):c.2211G>C (p.Glu737Asp) rs200664061
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353
NM_000441.2(SLC26A4):c.416-7T>C rs111033387
NM_000441.2(SLC26A4):c.441G>A (p.Met147Ile) rs201905280
NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr) rs542620119
NM_000441.2(SLC26A4):c.565G>T (p.Ala189Ser) rs35045430
NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg) rs111033380
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242
NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn) rs138462416
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454
NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter) rs111033205
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu) rs111033304
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559
NM_000452.3(SLC10A2):c.868C>T (p.Pro290Ser) rs56398830
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204
NM_000455.5(STK11):c.465-4G>A rs587780009
NM_000457.4(HNF4A):c.116-5C>T rs745975
NM_000457.5(HNF4A):c.416C>T (p.Thr139Ile) rs1800961
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982
NM_000479.5(AMH):c.974A>G (p.Gln325Arg) rs140765565
NM_000487.6(ARSA):c.869G>A (p.Arg290His) rs199476355
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.3(CFTR):c.1684G>C (p.Val562Leu) rs1800097
NM_000492.3(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642
NM_000492.4(CFTR):c.-8G>C rs1800501
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.4(CFTR):c.1408G>A (p.Val470Met) rs213950
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530
NM_000492.4(CFTR):c.1581A>G (p.Glu527=) rs1800094
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.4(CFTR):c.1766+5G>T rs121908796
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.2562T>G (p.Thr854=) rs1042077
NM_000492.4(CFTR):c.274-6T>C rs371315549
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109
NM_000492.4(CFTR):c.2909G>A (p.Gly970Asp) rs386134230
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=) rs1800130
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131
NM_000492.4(CFTR):c.4242+13A>G rs76179227
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=) rs1800136
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492
NM_000497.3(CYP11B1):c.1120C>A (p.Arg374=) rs61752786
NM_000497.3(CYP11B1):c.1269T>G (p.Tyr423Ter) rs267606755
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000501.4(ELN):c.1150+1G>A rs727503030
NM_000501.4(ELN):c.1415-9A>G rs727503032
NM_000501.4(ELN):c.1566T>A (p.Gly522=) rs61734584
NM_000501.4(ELN):c.1858G>T (p.Gly620Ter) rs727503034
NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser) rs121909199
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu) rs139717960
NM_000503.6(EYA1):c.1699-8T>C rs201537030
NM_000503.6(EYA1):c.1734G>A (p.Ser578=) rs770876882
NM_000503.6(EYA1):c.647C>G (p.Pro216Arg) rs200923204
NM_000503.6(EYA1):c.840C>A (p.Ile280=) rs55972891
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr) rs201504674
NM_000514.4(GDNF):c.277C>T (p.Arg93Trp) rs36119840
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) rs730882106
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1725C>T (p.Leu575=) rs1799898
NM_000527.5(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.534T>G (p.Asp178Glu) rs879254566
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330
NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter) rs886054230
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_000531.6(OTC):c.140A>C (p.Asn47Thr) rs67939655
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met) rs567102013
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu) rs730881915
NM_000535.7(PMS2):c.251-2A>T rs587779340
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201
NM_000540.2(RYR1):c.5183C>T (p.Ser1728Phe) rs193922781
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=) rs2229145
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857
NM_000540.3(RYR1):c.10687-7C>T rs2960354
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=) rs113579185
NM_000540.3(RYR1):c.13934G>A (p.Arg4645Gln) rs193922860
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610
NM_000540.3(RYR1):c.2871-5C>T rs45585535
NM_000540.3(RYR1):c.297G>A (p.Thr99=) rs144241486
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His) rs146504767
NM_000540.3(RYR1):c.594A>G (p.Leu198=) rs2229139
NM_000540.3(RYR1):c.6549-8G>A rs756593088
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met) rs118192177
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=) rs2228071
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=) rs2229147
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys) rs193922816
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397
NM_000540.3(RYR1):c.7614+10C>G rs2960323
NM_000540.3(RYR1):c.7835+5A>G rs1469695
NM_000540.3(RYR1):c.7863C>T (p.His2621=) rs2229142
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=) rs2229144
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=) rs2960340
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=) rs2915951
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=) rs2915952
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=) rs2229146
NM_000540.3(RYR1):c.8693-10G>C rs2915958
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=) rs2071089
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5]) rs3838786
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242
NM_000546.6(TP53):c.1040C>A (p.Ala347Asp) rs397516434
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371
NM_000546.6(TP53):c.31G>C (p.Glu11Gln) rs201382018
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343
NM_000546.6(TP53):c.885T>C (p.Pro295=) rs200073907
NM_000546.6(TP53):c.903A>G (p.Pro301=) rs72661120
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) rs150195368
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238
NM_000548.5(TSC2):c.2545+26G>A rs45517242
NM_000548.5(TSC2):c.255C>T (p.Val85=) rs45517098
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626
NM_000548.5(TSC2):c.2632C>T (p.Pro878Ser) rs397515077
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994
NM_000548.5(TSC2):c.2784C>T (p.Pro928=) rs45517267
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=) rs11551373
NM_000548.5(TSC2):c.3989C>T (p.Thr1330Met) rs397515209
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898
NM_000548.5(TSC2):c.429C>G (p.Phe143Leu) rs137854406
NM_000548.5(TSC2):c.482-3C>T rs1800720
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=) rs35534817
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=) rs45483700
NM_000548.5(TSC2):c.5161-10A>C rs1800718
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=) rs1748
NM_000548.5(TSC2):c.5260-12C>T rs769264472
NM_000548.5(TSC2):c.5260-15C>T rs45517416
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=) rs1051771
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698
NM_000551.4(VHL):c.150C>G (p.Ala50=) rs61751580
NM_000551.4(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000551.4(VHL):c.256C>T (p.Pro86Ser) rs398123481
NM_000551.4(VHL):c.340+5G>C rs61758376
NM_000551.4(VHL):c.433_439del (p.Gln145fs) rs1559428217
NM_000551.4(VHL):c.463+8C>T rs5030834
NM_000551.4(VHL):c.598C>T (p.Arg200Trp) rs28940298
NM_000552.4(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.4(VWF):c.4641T>C (p.Thr1547=) rs216310
NM_000552.4(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386
NM_000552.4(VWF):c.5191T>A (p.Ser1731Thr) rs61750603
NM_000552.4(VWF):c.6187C>T (p.Pro2063Ser) rs61750615
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter) rs17847577
NM_000559.2(HBG1):c.227C>T (p.Thr76Ile) rs1061234
NM_000601.6(HGF):c.1008G>A (p.Glu336=) rs148714837
NM_000601.6(HGF):c.1272-4A>G rs1800793
NM_000601.6(HGF):c.137C>T (p.Ala46Val) rs150267054
NM_000601.6(HGF):c.1814C>T (p.Thr605Ile) rs147075806
NM_000601.6(HGF):c.1832G>C (p.Ser611Thr) rs141774517
NM_000601.6(HGF):c.1891G>A (p.Val631Met) rs145494248
NM_000601.6(HGF):c.270T>C (p.Asp90=) rs145598174
NM_000601.6(HGF):c.333A>G (p.Glu111=) rs5745635
NM_000601.6(HGF):c.471A>G (p.Pro157=) rs142045938
NM_000601.6(HGF):c.910G>A (p.Glu304Lys) rs5745687
NM_000603.5(NOS3):c.894T>G (p.Asp298Glu) rs1799983
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166
NM_000685.4(AGTR1):c.110dup (p.Ile38fs) rs387906577
NM_000709.4(BCKDHA):c.511del (p.Leu171fs) rs762084007
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099
NM_000899.5(KITLG):c.177C>T (p.Pro59=) rs61924705
NM_000914.4(OPRM1):c.1165-11152C>T rs677830
NM_001002295.2(GATA3):c.573C>T (p.Pro191=) rs35508267
NM_001004334.4(GPR179):c.3138_3139del (p.Glu1046fs) rs776189685
NM_001004482.1(OR13C5):c.243G>C (p.Thr81=) rs75081605
NM_001004482.1(OR13C5):c.244C>T (p.Leu82=) rs80227456
NM_001005242.2(PKP2):c.2377del (p.Ser793fs) rs727504432
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val) rs143900944
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_001005242.3(PKP2):c.1171-10T>C rs200122872
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val) rs199571473
NM_001005242.3(PKP2):c.1379-2019C>T rs149930872
NM_001005242.3(PKP2):c.1379-2054C>T rs144620127
NM_001005242.3(PKP2):c.1379-2067G>A rs138538072
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser) rs144536197
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala) rs397516999
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser) rs147240502
NM_001005242.3(PKP2):c.1509T>C (p.Asn503=) rs143782040
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=) rs535581825
NM_001005242.3(PKP2):c.1556+9A>G rs397517004
NM_001005242.3(PKP2):c.1557-13dup rs200009796
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241
NM_001005242.3(PKP2):c.195C>T (p.Ala65=) rs397517014
NM_001005242.3(PKP2):c.2014-1G>C rs193922674
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu) rs144018320
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val) rs551045165
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala) rs112592855
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=) rs727504509
NM_001005242.3(PKP2):c.302G>A (p.Arg101His) rs149542398
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_001005242.3(PKP2):c.706G>T (p.Ala236Ser) rs62001015
NM_001005242.3(PKP2):c.725C>T (p.Thr242Met) rs201580443
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser) rs201944276
NM_001005242.3(PKP2):c.918C>T (p.Pro306=) rs368656084
NM_001005242.3(PKP2):c.939C>T (p.Ser313=) rs61729381
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=) rs2229920
NM_001006630.2(CHRM2):c.691G>A (p.Val231Ile) rs76394680
NM_001006630.2(CHRM2):c.703C>A (p.Leu235Met) rs138886480
NM_001006630.2(CHRM2):c.773A>G (p.Asn258Ser) rs142006633
NM_001006630.2(CHRM2):c.860C>G (p.Thr287Ser) rs138193709
NM_001006658.3(CR2):c.524C>T (p.Pro175Leu) rs75282758
NM_001010867.4(IBA57):c.323A>C (p.Tyr108Ser) rs781627051
NM_001010892.3(RSPH4A):c.*8A>G rs575857124
NM_001010892.3(RSPH4A):c.116C>A (p.Ser39Ter) rs368110732
NM_001017420.3(ESCO2):c.294_297del (p.Arg99fs) rs80359845
NM_001018004.2(TPM1):c.775A>G (p.Lys259Glu) rs144045691
NM_001018005.2(TPM1):c.114+14C>T rs576659891
NM_001018005.2(TPM1):c.180C>T (p.Tyr60=) rs17850194
NM_001018005.2(TPM1):c.240+1G>A rs730881146
NM_001018005.2(TPM1):c.375-3C>T rs202228866
NM_001018005.2(TPM1):c.457C>G (p.His153Asp) rs397516372
NM_001018005.2(TPM1):c.46G>C (p.Glu16Gln) rs727504290
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001018005.2(TPM1):c.609C>G (p.Asn203Lys) rs397516486
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316
NM_001018005.2(TPM1):c.64G>A (p.Ala22Thr) rs397516382
NM_001018005.2(TPM1):c.82G>C (p.Asp28His) rs397516391
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321
NM_001018005.2(TPM1):c.845C>G (p.Thr282Ser) rs397516395
NM_001018008.2(TPM1):c.695G>A (p.Arg232His) rs730881128
NM_001018116.2(CAVIN4):c.57G>A (p.Ser19=) rs141589872
NM_001031679.3(MSRB3):c.-67G>C rs368104588
NM_001031679.3(MSRB3):c.180C>T (p.Thr60=) rs147698935
NM_001031679.3(MSRB3):c.486G>A (p.Ala162=) rs35393316
NM_001031679.3(MSRB3):c.530C>T (p.Pro177Leu) rs144038296
NM_001031726.3(C19orf12):c.205G>A (p.Gly69Arg) rs515726205
NM_001032283.3(TMPO):c.396T>A (p.Gly132=) rs397516844
NM_001032283.3(TMPO):c.565+1105C>T rs138790561
NM_001032283.3(TMPO):c.565+1240G>A rs139700737
NM_001032283.3(TMPO):c.565+1728G>C rs145703021
NM_001032283.3(TMPO):c.565+2368G>A rs138295270
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018
NM_001035.2(RYR2):c.(?_169)_(273_?)del (p.(?))
NM_001035.2(RYR2):c.14091-11dup rs35563566
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001035.3(RYR2):c.1005+13A>G rs552027921
NM_001035.3(RYR2):c.10231-4T>C rs117180147
NM_001035.3(RYR2):c.10231-5C>T rs186326951
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811
NM_001035.3(RYR2):c.10324-4A>G rs72751287
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=) rs144256966
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) rs370332882
NM_001035.3(RYR2):c.11246-11del rs397516503
NM_001035.3(RYR2):c.1134C>T (p.Asp378=) rs193922621
NM_001035.3(RYR2):c.1143C>T (p.Ser381=) rs368844286
NM_001035.3(RYR2):c.11496C>T (p.Asp3832=) rs397516505
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517
NM_001035.3(RYR2):c.12609G>T (p.Ala4203=) rs372943408
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=) rs373606009
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys) rs200092869
NM_001035.3(RYR2):c.1296C>A (p.Gly432=) rs184176405
NM_001035.3(RYR2):c.13566C>T (p.Val4522=) rs57360419
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=) rs138498780
NM_001035.3(RYR2):c.14091-11del rs35563566
NM_001035.3(RYR2):c.14484G>T (p.Gly4828=) rs370996795
NM_001035.3(RYR2):c.14756+12C>T rs2275693
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT rs727504630
NM_001035.3(RYR2):c.1476+4C>T rs369442980
NM_001035.3(RYR2):c.1477-11del rs397516518
NM_001035.3(RYR2):c.1477-11dup rs397516518
NM_001035.3(RYR2):c.14809-15C>G rs790897
NM_001035.3(RYR2):c.1548T>C (p.Asp516=) rs146129084
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr) rs727504718
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623
NM_001035.3(RYR2):c.2301G>T (p.Ser767=) rs117588730
NM_001035.3(RYR2):c.231G>A (p.Ala77=) rs376225470
NM_001035.3(RYR2):c.2755G>A (p.Val919Met) rs201079716
NM_001035.3(RYR2):c.2760G>A (p.Glu920=) rs186181155
NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser) rs202015519
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924
NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=) rs113422365
NM_001035.3(RYR2):c.3151C>T (p.Arg1051Cys) rs533330664
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His) rs79457258
NM_001035.3(RYR2):c.3225C>T (p.Ala1075=) rs727505215
NM_001035.3(RYR2):c.3230T>C (p.Val1077Ala) rs202176504
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys) rs193922624
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met) rs200236750
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415
NM_001035.3(RYR2):c.3537T>C (p.Gly1179=) rs397516526
NM_001035.3(RYR2):c.3599-9del rs11331089
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile) rs185715460
NM_001035.3(RYR2):c.385-14T>C rs372287944
NM_001035.3(RYR2):c.385-9A>C rs140998248
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=) rs373721253
NM_001035.3(RYR2):c.4160+7A>G rs377465289
NM_001035.3(RYR2):c.4347T>C (p.Asp1449=) rs368930040
NM_001035.3(RYR2):c.4445G>A (p.Arg1482His) rs373024059
NM_001035.3(RYR2):c.4596+12G>A rs148557427
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=) rs201880756
NM_001035.3(RYR2):c.4740G>A (p.Pro1580=) rs79811945
NM_001035.3(RYR2):c.5001T>C (p.Leu1667=) rs397516537
NM_001035.3(RYR2):c.5571G>A (p.Pro1857=) rs371934582
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=) rs193922628
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=) rs373282364
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met) rs186906598
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525
NM_001035.3(RYR2):c.6555+6G>A rs372661934
NM_001035.3(RYR2):c.6689-12T>C rs370972311
NM_001035.3(RYR2):c.684C>T (p.Leu228=) rs72549417
NM_001035.3(RYR2):c.7159G>A (p.Ala2387Thr) rs794728753
NM_001035.3(RYR2):c.7161G>A (p.Ala2387=) rs371560909
NM_001035.3(RYR2):c.7222-12dup rs145140335
NM_001035.3(RYR2):c.726C>T (p.Asp242=) rs76380341
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg) rs200105499
NM_001035.3(RYR2):c.774-14G>T rs370114411
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134
NM_001035.3(RYR2):c.8209-3A>G rs376788358
NM_001035.3(RYR2):c.8913T>C (p.Ile2971=) rs755520825
NM_001035.3(RYR2):c.9450-3T>C rs188671846
NM_001035.3(RYR2):c.9519T>C (p.Thr3173=) rs371931287
NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp) rs372601642
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met) rs371147744
NM_001035.3(RYR2):c.9672C>T (p.Ser3224=) rs370740528
NM_001037.5(SCN1B):c.448+193G>A rs66876876
NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn) rs72550247
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) rs5742912
NM_001038603.3(MARVELD2):c.1059A>G (p.Ile353Met) rs727503158
NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=) rs61736168
NM_001038603.3(MARVELD2):c.176C>T (p.Pro59Leu) rs150434290
NM_001038603.3(MARVELD2):c.30G>A (p.Arg10=) rs143592561
NM_001038603.3(MARVELD2):c.364G>A (p.Ala122Thr) rs140764671
NM_001038603.3(MARVELD2):c.389T>A (p.Leu130His) rs144717803
NM_001038603.3(MARVELD2):c.500A>G (p.Gln167Arg) rs139854607
NM_001038603.3(MARVELD2):c.615C>T (p.Ala205=) rs146796266
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met) rs72773422
NM_001038603.3(MARVELD2):c.900G>A (p.Leu300=) rs138680809
NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=) rs72647541
NM_001039141.3(TRIOBP):c.265C>G (p.Pro89Ala) rs199646135
NM_001039141.3(TRIOBP):c.363C>A (p.Ser121=) rs201843208
NM_001039141.3(TRIOBP):c.391G>A (p.Gly131Ser) rs144634857
NM_001039141.3(TRIOBP):c.3954C>T (p.Ser1318=) rs200990219
NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln) rs34066624
NM_001039141.3(TRIOBP):c.4077T>C (p.Pro1359=) rs139074745
NM_001039141.3(TRIOBP):c.4165C>A (p.Leu1389Ile) rs144175566
NM_001039141.3(TRIOBP):c.4178C>T (p.Pro1393Leu) rs28450766
NM_001039141.3(TRIOBP):c.4703C>G (p.Ala1568Gly) rs569914227
NM_001039141.3(TRIOBP):c.4726C>T (p.Arg1576Cys) rs200113910
NM_001039141.3(TRIOBP):c.4728T>C (p.Arg1576=) rs112874177
NM_001039141.3(TRIOBP):c.4783C>T (p.Arg1595Cys) rs201117318
NM_001039141.3(TRIOBP):c.483G>A (p.Glu161=) rs368119524
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) rs200045032
NM_001039141.3(TRIOBP):c.5052G>T (p.Thr1684=) rs41283241
NM_001039141.3(TRIOBP):c.5058C>G (p.Pro1686=) rs113459040
NM_001039141.3(TRIOBP):c.5588C>T (p.Ala1863Val) rs140528529
NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile) rs143157673
NM_001039141.3(TRIOBP):c.5853G>A (p.Leu1951=) rs55821172
NM_001039141.3(TRIOBP):c.6135C>T (p.Pro2045=) rs11546529
NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu) rs201724032
NM_001039141.3(TRIOBP):c.6472+10C>T rs369182277
NM_001039141.3(TRIOBP):c.6571C>T (p.His2191Tyr) rs61729063
NM_001039141.3(TRIOBP):c.6736G>A (p.Glu2246Lys) rs138139146
NM_001039141.3(TRIOBP):c.6741G>A (p.Leu2247=) rs375013523
NM_001039141.3(TRIOBP):c.6771G>A (p.Gln2257=) rs200793989
NM_001039141.3(TRIOBP):c.6806A>G (p.Asn2269Ser) rs61729060
NM_001039141.3(TRIOBP):c.6899T>C (p.Val2300Ala) rs61737841
NM_001039141.3(TRIOBP):c.7010G>A (p.Arg2337Gln) rs200850285
NM_001039141.3(TRIOBP):c.7032G>A (p.Glu2344=) rs61737839
NM_001039213.4(CEACAM16):c.1125G>A (p.Ala375=) rs373050209
NM_001039213.4(CEACAM16):c.234C>T (p.Gly78=) rs73568059
NM_001039213.4(CEACAM16):c.352G>A (p.Glu118Lys) rs183860695
NM_001039213.4(CEACAM16):c.508G>A (p.Ala170Thr) rs200297676
NM_001039213.4(CEACAM16):c.527G>A (p.Arg176His) rs746541677
NM_001039213.4(CEACAM16):c.738G>A (p.Thr246=) rs199779296
NM_001039213.4(CEACAM16):c.95G>T (p.Ser32Ile) rs186687142
NM_001039569.2(AP1S3):c.97C>T (p.Arg33Trp) rs138292988
NM_001039876.3(SYNE4):c.1025A>G (p.Asn342Ser) rs200948076
NM_001039876.3(SYNE4):c.106G>A (p.Ala36Thr) rs774276326
NM_001039876.3(SYNE4):c.1102G>A (p.Val368Met) rs141202530
NM_001039876.3(SYNE4):c.543G>A (p.Arg181=) rs143940810
NM_001039876.3(SYNE4):c.616C>T (p.Leu206=) rs771897813
NM_001039876.3(SYNE4):c.699G>A (p.Trp233Ter) rs200484521
NM_001039876.3(SYNE4):c.7C>T (p.Leu3=) rs373148223
NM_001039876.3(SYNE4):c.805C>T (p.Leu269=) rs147433902
NM_001039876.3(SYNE4):c.972+5G>A rs369269989
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) rs142712751
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_001042492.3(NF1):c.2410-12T>C rs876657932
NM_001042492.3(NF1):c.2553C>T (p.Cys851=) rs2230852
NM_001042492.3(NF1):c.2985G>C (p.Leu995=) rs17881467
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=) rs150015024
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=) rs17886566
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550
NM_001042492.3(NF1):c.4577+12C>T rs17878332
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val) rs147327414
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu) rs148736217
NM_001042492.3(NF1):c.7368A>G (p.Lys2456=) rs201287021
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=) rs149924365
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu) rs2230850
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524
NM_001042492.3(NF1):c.8151G>A (p.Pro2717=) rs2285895
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=) rs142636150
NM_001042545.2(LTBP4):c.135C>T (p.Cys45=) rs185400394
NM_001042545.2(LTBP4):c.2053G>A (p.Asp685Asn) rs34093919
NM_001042545.2(LTBP4):c.891C>T (p.Gly297=) rs374427407
NM_001042702.5(PJVK):c.766+8T>C rs185220846
NM_001042702.5(PJVK):c.86A>G (p.Asp29Gly) rs200502817
NM_001048174.2(MUTYH):c.1103-2A>G rs587781628
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu) rs79777494
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=) rs74318065
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp) rs75321043
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955
NM_001048174.2(MUTYH):c.850-2A>G rs77542170
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) rs3219489
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584
NM_001065.4(TNFRSF1A):c.36A>G (p.Pro12=) rs767455
NM_001065.4(TNFRSF1A):c.625+10A>G rs1800693
NM_001072.4(UGT1A6):c.1453T>G (p.Tyr485Asp) rs34993780
NM_001072.4(UGT1A6):c.862-6061C>A rs35350960
NM_001077365.2(POMT1):c.123-5dup rs148086540
NM_001077365.2(POMT1):c.42C>T (p.Asp14=) rs150937126
NM_001077365.2(POMT1):c.699+52C>T rs3887873
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile) rs4740164
NM_001079668.3(NKX2-1):c.201G>C (p.Pro67=) rs747491554
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=) rs17309806
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999
NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys) rs144885874
NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile) rs148278887
NM_001079866.2(BCS1L):c.775T>A (p.Ser259Thr) rs77729067
NM_001080476.2(GRXCR1):c.272G>T (p.Gly91Val) rs113203706
NM_001080476.2(GRXCR1):c.753C>T (p.Ser251=) rs374667597
NM_001080476.2(GRXCR1):c.785G>A (p.Arg262Gln) rs146696590
NM_001080476.2(GRXCR1):c.825G>A (p.Thr275=) rs370629848
NM_001081.4(CUBN):c.5913_5916del (p.Thr1972fs) rs765301342
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_001089.3(ABCA3):c.2296C>T (p.Pro766Ser) rs45592239
NM_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp) rs146709251
NM_001089.3(ABCA3):c.863G>A (p.Arg288Lys) rs117603931
NM_001098668.4(SFTPA2):c.253C>T (p.Arg85Cys) rs150273659
NM_001098668.4(SFTPA2):c.420C>T (p.Ser140=) rs1965707
NM_001100.4(ACTA1):c.130-10G>C rs41271481
NM_001101.5(ACTB):c.942G>A (p.Gln314=) rs11546939
NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val) rs61734789
NM_001101426.4(CRPPA):c.685-25GTT[6] rs142647500
NM_001101648.2(NPC1L1):c.3617T>A (p.Ile1206Asn) rs52815063
NM_001103.3(ACTN2):c.-3G>T rs201920417
NM_001103.3(ACTN2):c.1040C>T (p.Thr347Met) rs727504590
NM_001103.3(ACTN2):c.1235C>T (p.Thr412Met) rs139515659
NM_001103.3(ACTN2):c.1298C>T (p.Ser433Leu) rs143749154
NM_001103.3(ACTN2):c.1341C>T (p.Phe447=) rs34785693
NM_001103.3(ACTN2):c.1383C>T (p.Ile461=) rs34827377
NM_001103.3(ACTN2):c.1406+8C>T rs397516567
NM_001103.3(ACTN2):c.1452G>A (p.Gln484=) rs200529923
NM_001103.3(ACTN2):c.165C>T (p.Ala55=) rs193922634
NM_001103.3(ACTN2):c.1794G>A (p.Pro598=) rs137890030
NM_001103.3(ACTN2):c.18C>A (p.Pro6=) rs368367224
NM_001103.3(ACTN2):c.18C>T (p.Pro6=) rs368367224
NM_001103.3(ACTN2):c.1975-12C>T rs371352710
NM_001103.3(ACTN2):c.1975-6C>A rs201255023
NM_001103.3(ACTN2):c.1975-6C>G rs201255023
NM_001103.3(ACTN2):c.2147C>T (p.Thr716Met) rs193922635
NM_001103.3(ACTN2):c.2161C>A (p.Arg721Ser) rs149433837
NM_001103.3(ACTN2):c.2367+8A>G rs112714025
NM_001103.3(ACTN2):c.2649G>A (p.Ala883=) rs146426213
NM_001103.3(ACTN2):c.26A>G (p.Gln9Arg) rs121434525
NM_001103.3(ACTN2):c.441G>A (p.Ser147=) rs150182164
NM_001103.3(ACTN2):c.877-6G>A rs397516585
NM_001103.3(ACTN2):c.893G>A (p.Arg298His) rs142482143
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=) rs144122893
NM_001105206.3(LAMA4):c.1035G>A (p.Thr345=) rs147069572
NM_001105206.3(LAMA4):c.1326C>T (p.Leu442=) rs3752580
NM_001105206.3(LAMA4):c.141G>A (p.Pro47=) rs141926228
NM_001105206.3(LAMA4):c.1475T>A (p.Leu492His) rs3752579
NM_001105206.3(LAMA4):c.1551+4C>T rs201209516
NM_001105206.3(LAMA4):c.1647A>C (p.Ser549=) rs149459643
NM_001105206.3(LAMA4):c.1959T>C (p.Asp653=) rs143269044
NM_001105206.3(LAMA4):c.196-15G>C rs371906362
NM_001105206.3(LAMA4):c.196-9C>T rs144850734
NM_001105206.3(LAMA4):c.1999G>T (p.Asp667Tyr) rs397516720
NM_001105206.3(LAMA4):c.2090G>A (p.Arg697His) rs397516723
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys) rs146868519
NM_001105206.3(LAMA4):c.228G>A (p.Ser76=) rs200589775
NM_001105206.3(LAMA4):c.2493+15G>T rs77901141
NM_001105206.3(LAMA4):c.254A>G (p.Asn85Ser) rs145301300
NM_001105206.3(LAMA4):c.2655C>T (p.Leu885=) rs35772073
NM_001105206.3(LAMA4):c.2810A>G (p.Glu937Gly) rs35605307
NM_001105206.3(LAMA4):c.297+8G>A rs200595773
NM_001105206.3(LAMA4):c.3054G>T (p.Leu1018Phe) rs183262122
NM_001105206.3(LAMA4):c.3175G>A (p.Val1059Met) rs373650093
NM_001105206.3(LAMA4):c.3834G>A (p.Gly1278=) rs141988342
NM_001105206.3(LAMA4):c.3943G>A (p.Val1315Ile) rs70940811
NM_001105206.3(LAMA4):c.456T>A (p.Ala152=) rs149106800
NM_001105206.3(LAMA4):c.4665+15G>A rs377415750
NM_001105206.3(LAMA4):c.4678C>A (p.Arg1560=) rs150069819
NM_001105206.3(LAMA4):c.5207-14G>C rs112265545
NM_001105206.3(LAMA4):c.5450T>C (p.Ile1817Thr) rs144482486
NM_001105206.3(LAMA4):c.641G>A (p.Arg214His) rs139146419
NM_001105206.3(LAMA4):c.863C>G (p.Ala288Gly) rs150084275
NM_001110219.3(GJB6):c.15G>A (p.Thr5=) rs150075979
NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys) rs143766955
NM_001110219.3(GJB6):c.476A>G (p.Asn159Ser) rs35277762
NM_001110219.3(GJB6):c.489G>A (p.Leu163=) rs35002004
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr) rs111033338
NM_001110219.3(GJB6):c.60_61delinsT (p.Lys22fs) rs397517206
NM_001110219.3(GJB6):c.689dup (p.Asn230fs) rs398124237
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_001114086.2(CLIC5):c.10G>A (p.Glu4Lys) rs116755302
NM_001114086.2(CLIC5):c.361G>A (p.Ala121Thr) rs189893797
NM_001114636.1(FANCL):c.1022_1024del (p.Ile341_Cys342delinsSer) rs747253294
NM_001114753.3(ENG):c.1096G>C (p.Asp366His) rs1800956
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046
NM_001122630.2(CDKN1C):c.522T>C (p.Ala174=) rs191294997
NM_001122659.3(EDNRB):c.-26G>A rs2070591
NM_001122659.3(EDNRB):c.1239C>G (p.Ser413=) rs139317762
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710
NM_001122659.3(EDNRB):c.561C>T (p.Ile187=) rs5349
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352
NM_001126049.2(KLLN):c.-898G>A rs538728843
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg) rs138977195
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606
NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_001127217.2(SMAD9):c.1035G>A (p.Val345=) rs150237947
NM_001127217.3(SMAD9):c.756T>C (p.His252=) rs146836873
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln) rs199886234
NM_001127453.2(GSDME):c.1122C>T (p.Pro374=) rs138980048
NM_001127453.2(GSDME):c.1183+9A>T rs397516910
NM_001127453.2(GSDME):c.119dup (p.Lys41fs) rs758488919
NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del) rs374353052
NM_001127453.2(GSDME):c.712C>T (p.Arg238Ter) rs200758965
NM_001127453.2(GSDME):c.864G>A (p.Ala288=) rs144358787
NM_001127496.3(SPRY4):c.653C>A (p.Ser218Tyr) rs139512218
NM_001127593.1(FCGR3A):c.526T>G (p.Phe176Val) rs396991
NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter) rs199775294
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp) rs1303
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580
NM_001128209.2(SGCD):c.845A>G (p.Gln282Arg) rs397516338
NM_001128228.3(TPRN):c.1818GGA[7] (p.Glu620_Glu621del) rs376810326
NM_001128228.3(TPRN):c.1929G>A (p.Val643=) rs115446132
NM_001128425.1(MUTYH):c.859del (p.Ala287fs) rs761468459
NM_001128840.3(CACNA1D):c.1378G>A (p.Gly460Ser) rs35874056
NM_001128840.3(CACNA1D):c.1998G>A (p.Leu666=) rs146747080
NM_001128840.3(CACNA1D):c.2250C>A (p.Ile750=) rs41276445
NM_001128840.3(CACNA1D):c.2552T>G (p.Leu851Trp) rs186968009
NM_001128840.3(CACNA1D):c.2805G>C (p.Leu935=) rs150266932
NM_001128840.3(CACNA1D):c.2853C>T (p.Cys951=) rs147169370
NM_001128840.3(CACNA1D):c.3168-6C>G rs72556355
NM_001128840.3(CACNA1D):c.3279G>A (p.Ala1093=) rs36061665
NM_001128840.3(CACNA1D):c.3892C>T (p.Pro1298Ser) rs72556360
NM_001128840.3(CACNA1D):c.4686C>T (p.Thr1562=) rs74534595
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del) rs72556363
NM_001128840.3(CACNA1D):c.6111A>G (p.Thr2037=) rs76868547
NM_001128840.3(CACNA1D):c.6417C>T (p.Asp2139=) rs375811590
NM_001128840.3(CACNA1D):c.6437G>A (p.Arg2146Lys) rs150838215
NM_001128840.3(CACNA1D):c.6444G>A (p.Glu2148=) rs373851693
NM_001128840.3(CACNA1D):c.825C>T (p.Ala275=) rs193196995
NM_001128840.3(CACNA1D):c.954G>A (p.Ala318=) rs147336902
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356
NM_001130987.2(DYSF):c.1276+11C>T rs35982795
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=) rs35984374
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=) rs34836829
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3]) rs398123779
NM_001130987.2(DYSF):c.3756+9G>T rs191746041
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) rs11558179
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) rs2303607
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu) rs34999029
NM_001130987.2(DYSF):c.6321+15C>T rs2559082
NM_001130987.2(DYSF):c.888+11T>C rs13428076
NM_001130987.2(DYSF):c.951+4T>C rs11903960
NM_001134363.3(RBM20):c.1024C>A (p.Pro342Thr) rs876657971
NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr) rs112226602
NM_001134363.3(RBM20):c.1093G>A (p.Gly365Arg) rs201047984
NM_001134363.3(RBM20):c.1179C>T (p.Pro393=) rs200588338
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup) rs397516593
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272
NM_001134363.3(RBM20):c.1338-11G>A rs372064165
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984
NM_001134363.3(RBM20):c.1418C>T (p.Ala473Val) rs727503387
NM_001134363.3(RBM20):c.150A>T (p.Pro50=) rs376936285
NM_001134363.3(RBM20):c.1529T>C (p.Phe510Ser) rs372567331
NM_001134363.3(RBM20):c.1602C>T (p.Asp534=) rs76048624
NM_001134363.3(RBM20):c.1633G>A (p.Val545Ile) rs397516596
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001134363.3(RBM20):c.1881-3C>T rs138436392
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser) rs267607002
NM_001134363.3(RBM20):c.1906C>T (p.Arg636Cys) rs267607002
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=) rs537723089
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=) rs41292592
NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr) rs373797219
NM_001134363.3(RBM20):c.2201G>A (p.Arg734Gln) rs372923744
NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser) rs200271618
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621
NM_001134363.3(RBM20):c.280C>T (p.Leu94=) rs182768779
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser) rs727503392
NM_001134363.3(RBM20):c.3265C>A (p.Pro1089Thr) rs147356378
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219
NM_001134363.3(RBM20):c.3574-6C>G rs762069628
NM_001134363.3(RBM20):c.3574-7T>G rs397516616
NM_001134363.3(RBM20):c.3623C>T (p.Ala1208Val) rs397516618
NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr) rs199868951
NM_001134363.3(RBM20):c.529A>T (p.Thr177Ser) rs397516621
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile) rs183130427
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val) rs202238753
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=) rs187423999
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001136219.3(FCGR2A):c.500A>G (p.His167Arg) rs1801274
NM_001142771.2(PCDH15):c.4627G>A (p.Gly1543Ser) rs181306086
NM_001142771.2(PCDH15):c.4686G>A (p.Thr1562=) rs148772706
NM_001142771.2(PCDH15):c.4717C>T (p.Leu1573=) rs200155519
NM_001142784.2(IL11RA):c.128C>T (p.Ser43Phe) rs76429508
NM_001142800.2(EYS):c.3243+1G>A
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr) rs749909863
NM_001142800.2(EYS):c.6528C>A (p.Tyr2176Ter) rs797045089
NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met) rs587776991
NM_001145308.4(LRTOMT):c.352G>A (p.Val118Ile) rs181092713
NM_001145308.4(LRTOMT):c.397G>C (p.Ala133Pro) rs76657474
NM_001145308.4(LRTOMT):c.623G>A (p.Arg208Gln) rs61741195
NM_001145308.4(LRTOMT):c.69G>C (p.Leu23=) rs12272086
NM_001145809.2(MYH14):c.1034C>G (p.Ser345Cys) rs35315400
NM_001145809.2(MYH14):c.1115-4C>T rs142696359
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280
NM_001145809.2(MYH14):c.1205A>G (p.Asn402Ser) rs537153044
NM_001145809.2(MYH14):c.1275C>T (p.Thr425=) rs149221129
NM_001145809.2(MYH14):c.1918C>T (p.Arg640Trp) rs376267080
NM_001145809.2(MYH14):c.192G>T (p.Gly64=) rs181055215
NM_001145809.2(MYH14):c.1944C>T (p.Asp648=) rs189243324
NM_001145809.2(MYH14):c.2359G>A (p.Glu787Lys) rs397516628
NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val) rs201337011
NM_001145809.2(MYH14):c.2680C>A (p.Arg894=) rs34805056
NM_001145809.2(MYH14):c.3079C>T (p.Leu1027=) rs113152264
NM_001145809.2(MYH14):c.3537C>T (p.Ala1179=) rs559356437
NM_001145809.2(MYH14):c.3778G>A (p.Gly1260Ser) rs200272339
NM_001145809.2(MYH14):c.394G>A (p.Gly132Ser) rs199910006
NM_001145809.2(MYH14):c.4586G>A (p.Arg1529His) rs185232438
NM_001145809.2(MYH14):c.4617T>G (p.Arg1539=) rs375866139
NM_001145809.2(MYH14):c.4685G>A (p.Arg1562Gln) rs140118363
NM_001145809.2(MYH14):c.4705G>T (p.Ala1569Ser) rs145522874
NM_001145809.2(MYH14):c.5083G>C (p.Gly1695Arg) rs199915414
NM_001145809.2(MYH14):c.5127+10G>A rs370928889
NM_001145809.2(MYH14):c.5227C>T (p.Leu1743=) rs147447646
NM_001145809.2(MYH14):c.5573G>A (p.Arg1858His) rs11882073
NM_001145809.2(MYH14):c.565C>T (p.Arg189Cys) rs200818171
NM_001145809.2(MYH14):c.5683C>T (p.Arg1895Cys) rs200485394
NM_001145809.2(MYH14):c.5778C>T (p.Leu1926=) rs201839634
NM_001145809.2(MYH14):c.5960+8C>T rs373176553
NM_001145809.2(MYH14):c.820A>G (p.Ile274Val) rs200424400
NM_001145809.2(MYH14):c.826A>G (p.Ile276Val) rs55645295
NM_001146079.2(CLDN14):c.*10G>C rs139628442
NM_001146079.2(CLDN14):c.273G>A (p.Ser91=) rs577393948
NM_001146079.2(CLDN14):c.300C>T (p.Ile100=) rs113350364
NM_001146079.2(CLDN14):c.690C>T (p.His230=) rs149733854
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141
NM_001160179.2(NAT1):c.445G>A (p.Val149Ile) rs4987076
NM_001168379.1(ZIC4):c.1080G>C (p.Ser360=) rs17509456
NM_001171.5(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762
NM_001171.5(ABCC6):c.3941G>A (p.Arg1314Gln) rs63751086
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707
NM_001184.4(ATR):c.1776T>A (p.Gly592=) rs2227930
NM_001184.4(ATR):c.632T>C (p.Met211Thr) rs2227928
NM_001184.4(ATR):c.7875G>A (p.Gln2625=) rs1802904
NM_001190417.2(ZNF674):c.586C>T (p.Arg196Ter) rs182004761
NM_001195248.2(APTX):c.484-25_484-5del rs200922655
NM_001195248.2(APTX):c.484-3del rs373304582
NM_001195263.2(PDZD7):c.1348_1350del (p.Glu450del) rs555444131
NM_001195263.2(PDZD7):c.1411T>C (p.Phe471Leu) rs141181035
NM_001195263.2(PDZD7):c.156C>T (p.Asn52=) rs150917752
NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu) rs112571971
NM_001195263.2(PDZD7):c.1905G>A (p.Glu635=) rs546907305
NM_001195263.2(PDZD7):c.2107del (p.Ser703fs) rs397516633
NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu) rs143414291
NM_001195263.2(PDZD7):c.2319_2336del (p.773_774RS[3]) rs397516634
NM_001195263.2(PDZD7):c.572T>A (p.Val191Glu) rs118098246
NM_001195263.2(PDZD7):c.971G>A (p.Ser324Asn) rs200592310
NM_001195518.2(MICU1):c.735+1G>A rs369915689
NM_001199107.2(TBC1D24):c.*2G>A rs780054979
NM_001199107.2(TBC1D24):c.-7C>T rs199852092
NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=) rs184389316
NM_001199107.2(TBC1D24):c.1038C>T (p.Ser346=) rs377697825
NM_001199107.2(TBC1D24):c.1074C>T (p.Pro358=) rs75961715
NM_001199107.2(TBC1D24):c.1125C>T (p.His375=) rs749163517
NM_001199107.2(TBC1D24):c.1143-15G>A rs371213803
NM_001199107.2(TBC1D24):c.1143-6C>T rs73490287
NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met) rs61731477
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys) rs141399869
NM_001199107.2(TBC1D24):c.1425C>T (p.Pro475=) rs370869383
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp) rs202216463
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=) rs12373107
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) rs201059992
NM_001199107.2(TBC1D24):c.1503G>A (p.Gly501=) rs368735897
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167
NM_001199107.2(TBC1D24):c.1570C>T (p.Arg524Trp) rs78644690
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met) rs201649140
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520
NM_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln) rs200226466
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999
NM_001199107.2(TBC1D24):c.207T>C (p.Pro69=) rs13339237
NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg) rs77585883
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059
NM_001199107.2(TBC1D24):c.493G>A (p.Gly165Ser) rs200926225
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356
NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu) rs201060500
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728
NM_001199107.2(TBC1D24):c.951C>T (p.Thr317=) rs766745103
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197
NM_001199799.2(ILDR1):c.1326C>A (p.Arg442=) rs148350512
NM_001199799.2(ILDR1):c.1560C>A (p.Gly520=) rs369318229
NM_001199799.2(ILDR1):c.1581G>A (p.Gly527=) rs142243054
NM_001199799.2(ILDR1):c.227C>T (p.Ala76Val) rs143072070
NM_001199799.2(ILDR1):c.726G>A (p.Ala242=) rs114464909
NM_001199799.2(ILDR1):c.772C>T (p.Gln258Ter) rs142746163
NM_001199799.2(ILDR1):c.792G>A (p.Pro264=) rs186672543
NM_001199799.2(ILDR1):c.972C>T (p.Val324=) rs138334785
NM_001232.4(CASQ2):c.1005T>C (p.Asn335=) rs28730712
NM_001232.4(CASQ2):c.1014+9C>T rs77775029
NM_001232.4(CASQ2):c.1131A>T (p.Glu377Asp) rs148824162
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del) rs72554069
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=) rs7413162
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del) rs397516641
NM_001232.4(CASQ2):c.1194T>C (p.Asp398=) rs28730711
NM_001232.4(CASQ2):c.198G>A (p.Thr66=) rs74114618
NM_001232.4(CASQ2):c.270C>A (p.Gly90=) rs72554056
NM_001232.4(CASQ2):c.421-14G>A rs139281637
NM_001232.4(CASQ2):c.421-15C>G rs199939582
NM_001232.4(CASQ2):c.481A>G (p.Ile161Val) rs146333579
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu) rs146664754
NM_001232.4(CASQ2):c.730C>T (p.His244Tyr) rs142036299
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716
NM_001232.4(CASQ2):c.861C>A (p.Ile287=) rs143718767
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=) rs41311573
NM_001243133.2(NLRP3):c.1920C>T (p.Phe640=) rs34698071
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) rs35829419
NM_001243133.2(NLRP3):c.3005+25C>T rs61841189
NM_001243133.2(NLRP3):c.789C>T (p.Ser263=) rs146442638
NM_001243279.3(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143
NM_001256317.3(TMPRSS3):c.1125C>T (p.Tyr375=) rs111033292
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519
NM_001256317.3(TMPRSS3):c.1306G>A (p.Val436Ile) rs114904237
NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu) rs147231991
NM_001256317.3(TMPRSS3):c.497G>T (p.Arg166Leu) rs150397427
NM_001256317.3(TMPRSS3):c.957G>C (p.Met319Ile) rs115223836
NM_001256715.2(DNAAF3):c.1001T>C (p.Leu334Pro) rs890871
NM_001256715.2(DNAAF3):c.1056G>A (p.Pro352=) rs891187
NM_001256715.2(DNAAF3):c.1164-14C>T rs60176657
NM_001256715.2(DNAAF3):c.1239-8A>G rs28377509
NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=) rs3848618
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=) rs56726774
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser) rs58824375
NM_001256715.2(DNAAF3):c.666T>C (p.Ala222=) rs7260320
NM_001256715.2(DNAAF3):c.790-14C>T rs7260371
NM_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly) rs2365725
NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln) rs34162630
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile) rs141010716
NM_001267550.1(TTN):c.45599C>G rs201057307
NM_001267550.1(TTN):c.83315A>T rs578191491
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile) rs55675869
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001267550.2(TTN):c.1002C>T (p.Thr334=) rs148094198
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly) rs200166942
NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser) rs72629779
NM_001267550.2(TTN):c.100579G>A (p.Val33527Ile) rs2278196
NM_001267550.2(TTN):c.100766-9C>T rs77483833
NM_001267550.2(TTN):c.10088G>A (p.Arg3363His) rs148169214
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln) rs34819099
NM_001267550.2(TTN):c.10104T>G (p.Val3368=) rs142460433
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=) rs368168812
NM_001267550.2(TTN):c.10114+5G>A rs115985443
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463
NM_001267550.2(TTN):c.101245G>A (p.Val33749Met) rs201554140
NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=) rs367732133
NM_001267550.2(TTN):c.101406C>G (p.Val33802=) rs55802460
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) rs55886356
NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val) rs56376197
NM_001267550.2(TTN):c.10188A>G (p.Glu3396=) rs183336802
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His) rs55669553
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=) rs201246720
NM_001267550.2(TTN):c.102024A>G (p.Leu34008=) rs727504677
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn) rs144963736
NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr) rs200237973
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891
NM_001267550.2(TTN):c.102520G>A (p.Val34174Ile) rs200430493
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val) rs56347248
NM_001267550.2(TTN):c.102737G>A (p.Arg34246His) rs372716177
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val) rs56173891
NM_001267550.2(TTN):c.102833G>T (p.Gly34278Val) rs3731752
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783
NM_001267550.2(TTN):c.102984C>T (p.Asp34328=) rs541125667
NM_001267550.2(TTN):c.103104A>G (p.Leu34368=) rs371535721
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln) rs148525155
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met) rs192001910
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys) rs72629785
NM_001267550.2(TTN):c.103514A>T (p.Glu34505Val) rs761105256
NM_001267550.2(TTN):c.103524C>T (p.Val34508=) rs587780985
NM_001267550.2(TTN):c.103580T>C (p.Ile34527Thr) rs370618537
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala) rs55945684
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His) rs3829747
NM_001267550.2(TTN):c.10378C>G (p.Pro3460Ala) rs201735487
NM_001267550.2(TTN):c.103913G>A (p.Arg34638His) rs371528685
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=) rs199714102
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro) rs185683410
NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val) rs727505020
NM_001267550.2(TTN):c.104364C>T (p.Ser34788=) rs181679744
NM_001267550.2(TTN):c.104365G>A (p.Glu34789Lys) rs190565627
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu) rs72629787
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670
NM_001267550.2(TTN):c.104592G>A (p.Pro34864=) rs144094650
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala) rs201218828
NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala) rs376634193
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=) rs375448572
NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys) rs200378865
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp) rs56308529
NM_001267550.2(TTN):c.105183G>A (p.Ala35061=) rs371075036
NM_001267550.2(TTN):c.105228G>A (p.Ser35076=) rs55938627
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=) rs55806007
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met) rs55865284
NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln) rs530537991
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys) rs56324595
NM_001267550.2(TTN):c.105782C>T (p.Pro35261Leu) rs16866380
NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser) rs67254537
NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val) rs66961115
NM_001267550.2(TTN):c.105876G>A (p.Leu35292=) rs372521529
NM_001267550.2(TTN):c.106121T>A (p.Phe35374Tyr) rs727504609
NM_001267550.2(TTN):c.106275G>C (p.Gly35425=) rs56207956
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=) rs55838839
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr) rs55880440
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) rs199632397
NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val) rs377337528
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=) rs116604145
NM_001267550.2(TTN):c.1068G>A (p.Glu356=) rs144716589
NM_001267550.2(TTN):c.106920G>A (p.Leu35640=) rs183923129
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln) rs200497615
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln) rs199531140
NM_001267550.2(TTN):c.107134A>C (p.Asn35712His) rs727504949
NM_001267550.2(TTN):c.107267T>C (p.Val35756Ala) rs16866378
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=) rs371480338
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793
NM_001267550.2(TTN):c.107605A>G (p.Ser35869Gly) rs201835888
NM_001267550.2(TTN):c.107700A>G (p.Glu35900=) rs55832587
NM_001267550.2(TTN):c.107753G>A (p.Cys35918Tyr) rs193212275
NM_001267550.2(TTN):c.107766T>C (p.Gly35922=) rs147293964
NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile) rs397517478
NM_001267550.2(TTN):c.107961T>C (p.His35987=) rs377439315
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr) rs56128843
NM_001267550.2(TTN):c.10922T>C (p.Ile3641Thr) rs141027782
NM_001267550.2(TTN):c.10931G>A (p.Ser3644Asn) rs78535378
NM_001267550.2(TTN):c.11254+2T>C rs199565715
NM_001267550.2(TTN):c.11311+1341T>C rs200284932
NM_001267550.2(TTN):c.11311+1370G>A rs148115514
NM_001267550.2(TTN):c.11311+1372C>T rs141407971
NM_001267550.2(TTN):c.11311+1641C>T rs140804168
NM_001267550.2(TTN):c.11311+1644T>C rs142585268
NM_001267550.2(TTN):c.11311+1799G>C rs147314430
NM_001267550.2(TTN):c.11311+1978T>A rs144209883
NM_001267550.2(TTN):c.11311+2007G>C rs200816462
NM_001267550.2(TTN):c.11311+2465C>G rs116593093
NM_001267550.2(TTN):c.11311+2573T>C rs72647897
NM_001267550.2(TTN):c.11311+2791G>A rs143253411
NM_001267550.2(TTN):c.11311+2950G>A rs144690298
NM_001267550.2(TTN):c.11311+3440C>T rs72647901
NM_001267550.2(TTN):c.11311+3703A>G rs144226338
NM_001267550.2(TTN):c.11311+3769C>A rs140064945
NM_001267550.2(TTN):c.11311+3847G>T rs72647902
NM_001267550.2(TTN):c.11311+4088A>G rs142304137
NM_001267550.2(TTN):c.11311+4338A>C rs139344272
NM_001267550.2(TTN):c.11311+4470A>G rs201945197
NM_001267550.2(TTN):c.11311+4523A>C rs200760091
NM_001267550.2(TTN):c.11311+4583A>C rs139172299
NM_001267550.2(TTN):c.11311+4587G>A rs77419653
NM_001267550.2(TTN):c.11311+4672C>T rs149748934
NM_001267550.2(TTN):c.11311+4802T>C rs139486133
NM_001267550.2(TTN):c.11311+4938C>T rs147513899
NM_001267550.2(TTN):c.11311+5051T>C rs142132973
NM_001267550.2(TTN):c.11311+5216G>A rs150615457
NM_001267550.2(TTN):c.11311+5250T>A rs776361113
NM_001267550.2(TTN):c.11311+5340C>T rs148105798
NM_001267550.2(TTN):c.11311+5478T>G rs72648908
NM_001267550.2(TTN):c.11311+5536A>G rs145581345
NM_001267550.2(TTN):c.11312-3866G>A rs145932311
NM_001267550.2(TTN):c.11312-4319G>A rs72648913
NM_001267550.2(TTN):c.11312-4459T>C rs200378944
NM_001267550.2(TTN):c.11312-4478C>T rs151253841
NM_001267550.2(TTN):c.11312-4498G>A rs186841908
NM_001267550.2(TTN):c.11312-5194_11312-5162dup rs397517815
NM_001267550.2(TTN):c.11312-5286C>T rs200953966
NM_001267550.2(TTN):c.11338G>A (p.Glu3780Lys) rs727504586
NM_001267550.2(TTN):c.11370A>G (p.Gln3790=) rs72648918
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547
NM_001267550.2(TTN):c.11440G>A (p.Glu3814Lys) rs375103237
NM_001267550.2(TTN):c.11506G>A (p.Val3836Met) rs397517825
NM_001267550.2(TTN):c.11672C>T (p.Thr3891Ile) rs148164929
NM_001267550.2(TTN):c.11756C>A (p.Thr3919Asn) rs727503661
NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys) rs186624523
NM_001267550.2(TTN):c.11842C>T (p.Arg3948Cys) rs397517827
NM_001267550.2(TTN):c.11910A>T (p.Thr3970=) rs727503660
NM_001267550.2(TTN):c.11991T>C (p.Ile3997=) rs565546452
NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser) rs201888760
NM_001267550.2(TTN):c.12181G>A (p.Ala4061Thr) rs397517829
NM_001267550.2(TTN):c.12195T>C (p.Leu4065=) rs201129413
NM_001267550.2(TTN):c.12234C>G (p.Thr4078=) rs192857526
NM_001267550.2(TTN):c.12401T>A (p.Ile4134Asn) rs112009206
NM_001267550.2(TTN):c.12547A>G (p.Lys4183Glu) rs201565932
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe) rs34618570
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter) rs370912401
NM_001267550.2(TTN):c.12653T>C (p.Ile4218Thr) rs374631591
NM_001267550.2(TTN):c.12733A>C (p.Asn4245His) rs199652066
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met) rs201437752
NM_001267550.2(TTN):c.12986G>A (p.Arg4329Lys) rs199560188
NM_001267550.2(TTN):c.13090G>A (p.Val4364Met) rs201506104
NM_001267550.2(TTN):c.13194A>G (p.Gln4398=) rs375347596
NM_001267550.2(TTN):c.13202G>A (p.Arg4401Gln) rs200431386
NM_001267550.2(TTN):c.13287T>C (p.Ala4429=) rs370604524
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr) rs142414432
NM_001267550.2(TTN):c.13499A>G (p.Lys4500Arg) rs727503655
NM_001267550.2(TTN):c.13520T>C (p.Met4507Thr) rs191968963
NM_001267550.2(TTN):c.13618G>A (p.Val4540Met) rs201046911
NM_001267550.2(TTN):c.13859G>A (p.Gly4620Asp) rs55857742
NM_001267550.2(TTN):c.13884C>T (p.Ser4628=) rs183328495
NM_001267550.2(TTN):c.13969A>C (p.Asn4657His) rs200204761
NM_001267550.2(TTN):c.13976A>G (p.Tyr4659Cys) rs34706803
NM_001267550.2(TTN):c.1398+4C>T rs368548209
NM_001267550.2(TTN):c.1398+5G>A rs542965530
NM_001267550.2(TTN):c.1399-3C>T rs397517486
NM_001267550.2(TTN):c.14004C>T (p.Thr4668=) rs201200682
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu) rs55906845
NM_001267550.2(TTN):c.14302G>A (p.Gly4768Ser) rs727503652
NM_001267550.2(TTN):c.1449C>T (p.Ala483=) rs141617218
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys) rs2742347
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=) rs184307461
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr) rs72648923
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn) rs184740744
NM_001267550.2(TTN):c.14784C>A (p.Leu4928=) rs373875040
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser) rs72648925
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile) rs72647851
NM_001267550.2(TTN):c.14935+9C>T rs544241749
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927
NM_001267550.2(TTN):c.14998C>T (p.Arg5000Cys) rs369933152
NM_001267550.2(TTN):c.15178G>A (p.Val5060Ile) rs72648929
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_001267550.2(TTN):c.15497-8T>C rs727505010
NM_001267550.2(TTN):c.15542G>C (p.Gly5181Ala) rs201185434
NM_001267550.2(TTN):c.15552C>T (p.Thr5184=) rs146353237
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro) rs72648930
NM_001267550.2(TTN):c.15584A>G (p.Glu5195Gly) rs72648931
NM_001267550.2(TTN):c.156C>T (p.Pro52=) rs72647842
NM_001267550.2(TTN):c.15850G>A (p.Val5284Met) rs66839174
NM_001267550.2(TTN):c.1585G>A (p.Ala529Thr) rs143030869
NM_001267550.2(TTN):c.15860C>T (p.Thr5287Met) rs148551876
NM_001267550.2(TTN):c.15906C>T (p.Val5302=) rs375179152
NM_001267550.2(TTN):c.16055-9A>C rs368897883
NM_001267550.2(TTN):c.16113T>C (p.Asn5371=) rs143845692
NM_001267550.2(TTN):c.16157T>C (p.Met5386Thr) rs375417155
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg) rs190636272
NM_001267550.2(TTN):c.16422A>G (p.Gln5474=) rs371026448
NM_001267550.2(TTN):c.16480G>A (p.Gly5494Arg) rs727504697
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys) rs72648939
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr) rs72648940
NM_001267550.2(TTN):c.16551G>A (p.Ser5517=) rs376037792
NM_001267550.2(TTN):c.16621+7A>T rs10200398
NM_001267550.2(TTN):c.16751T>A (p.Ile5584Asn) rs779652311
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942
NM_001267550.2(TTN):c.1709C>T (p.Ala570Val) rs146690035
NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys) rs376593556
NM_001267550.2(TTN):c.17183-7C>T rs371785683
NM_001267550.2(TTN):c.17183-9T>C rs141687561
NM_001267550.2(TTN):c.17300G>A (p.Ser5767Asn) rs200692495
NM_001267550.2(TTN):c.17312C>G (p.Thr5771Ser) rs16866477
NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu) rs199778910
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu) rs185962498
NM_001267550.2(TTN):c.17806A>G (p.Ile5936Val) rs72648945
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly) rs146983095
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr) rs35683768
NM_001267550.2(TTN):c.17928G>A (p.Leu5976=) rs373963067
NM_001267550.2(TTN):c.17989G>A (p.Ala5997Thr) rs72648946
NM_001267550.2(TTN):c.180T>C (p.Asp60=) rs144750850
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys) rs189127014
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu) rs73973139
NM_001267550.2(TTN):c.1834A>G (p.Lys612Glu) rs727505256
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly) rs370812788
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=) rs66523653
NM_001267550.2(TTN):c.18531G>C (p.Val6177=) rs370684491
NM_001267550.2(TTN):c.18561G>A (p.Ala6187=) rs377556808
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser) rs191692293
NM_001267550.2(TTN):c.18745G>A (p.Asp6249Asn) rs201263441
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) rs72648949
NM_001267550.2(TTN):c.18778A>C (p.Lys6260Gln) rs375652574
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=) rs146219199
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) rs184412722
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile) rs149131555
NM_001267550.2(TTN):c.18903C>T (p.Thr6301=) rs72648950
NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val) rs145204073
NM_001267550.2(TTN):c.19054A>G (p.Arg6352Gly) rs569003242
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr) rs188878341
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953
NM_001267550.2(TTN):c.19191G>A (p.Thr6397=) rs140495148
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val) rs72648954
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn) rs11888217
NM_001267550.2(TTN):c.19356C>T (p.Ser6452=) rs369275615
NM_001267550.2(TTN):c.19383T>C (p.Asn6461=) rs76771282
NM_001267550.2(TTN):c.19715-4A>G rs375009631
NM_001267550.2(TTN):c.19728C>T (p.Phe6576=) rs751902051
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser) rs116572520
NM_001267550.2(TTN):c.19818A>G (p.Lys6606=) rs397517492
NM_001267550.2(TTN):c.19922C>A (p.Thr6641Asn) rs747240394
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met) rs16866475
NM_001267550.2(TTN):c.20025C>A (p.Ala6675=) rs373842558
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys) rs28626194
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met) rs146627500
NM_001267550.2(TTN):c.20236G>A (p.Ala6746Thr) rs202108224
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys) rs149470241
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958
NM_001267550.2(TTN):c.204C>T (p.Pro68=) rs201089861
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg) rs17355460
NM_001267550.2(TTN):c.20630T>C (p.Ile6877Thr) rs142794598
NM_001267550.2(TTN):c.20743G>T (p.Ala6915Ser) rs201728165
NM_001267550.2(TTN):c.20772G>A (p.Lys6924=) rs369993514
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala) rs200118743
NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val) rs17355446
NM_001267550.2(TTN):c.21003A>G (p.Lys7001=) rs727504579
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val) rs72648960
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn) rs72648962
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=) rs202089818
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp) rs72648964
NM_001267550.2(TTN):c.21197A>G (p.Lys7066Arg) rs553548392
NM_001267550.2(TTN):c.21332T>C (p.Met7111Thr) rs374408615
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr) rs201394117
NM_001267550.2(TTN):c.21404-4A>G rs72648965
NM_001267550.2(TTN):c.21489C>G (p.Thr7163=) rs376882041
NM_001267550.2(TTN):c.2151C>T (p.Pro717=) rs374570732
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr) rs189951108
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=) rs201155967
NM_001267550.2(TTN):c.21605C>G (p.Ser7202Cys) rs747376234
NM_001267550.2(TTN):c.21656C>T (p.Ser7219Phe) rs201029552
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His) rs138853909
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr) rs187925021
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp) rs375627540
NM_001267550.2(TTN):c.21993T>C (p.Pro7331=) rs373223049
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=) rs34562585
NM_001267550.2(TTN):c.22077A>T (p.Gly7359=) rs202102237
NM_001267550.2(TTN):c.22080T>C (p.Asp7360=) rs16866473
NM_001267550.2(TTN):c.22241-5T>C rs397517501
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His) rs12693166
NM_001267550.2(TTN):c.22575T>A (p.Asp7525Glu) rs200061856
NM_001267550.2(TTN):c.22611T>C (p.His7537=) rs16866469