ClinVar Miner

Variants from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics: Collection method of the submission from EGL Genetic Diagnostics, Eurofins Clinical Diagnostics:
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
24100 9269 87 4896 6595 181 593 11638

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
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response protective risk factor other
pathogenic 0 270 81 8 9 0 0 17 2 14 23
likely pathogenic 163 0 41 8 5 0 0 7 1 0 5
uncertain significance 179 280 13 4975 1249 0 1 7 1 2 7
likely benign 11 7 579 11 1412 0 1 2 1 0 2
benign 13 15 479 3054 63 3 4 7 6 18 3
other 18 5 19 28 24 0 1 22 1 6 0

Submitter to submitter summary #

Total submitters: 136
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 6447 0 1394 2725 40 223 4379
Invitae 0 2512 0 670 2218 6 81 2972
Genetic Services Laboratory, University of Chicago 0 1357 0 1050 389 2 9 1450
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2594 0 422 727 6 27 1182
CeGaT Praxis fuer Humangenetik Tuebingen 0 1608 0 323 673 10 102 1105
Athena Diagnostics Inc 0 2240 0 526 553 1 19 1096
Ambry Genetics 0 1621 0 447 623 1 16 1086
PreventionGenetics, PreventionGenetics 0 3270 0 586 324 8 8 926
Integrated Genetics/Laboratory Corporation of America 0 993 0 289 320 7 21 637
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1740 0 252 255 11 35 551
Illumina Clinical Services Laboratory,Illumina 0 669 0 267 184 2 24 471
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 554 0 347 70 8 13 436
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 265 83 68 110 0 1 262
Mayo Clinic Laboratories, Mayo Clinic 0 551 0 114 59 4 7 181
Department of Pathology and Laboratory Medicine,Sinai Health System 0 271 0 43 89 11 19 159
OMIM 0 106 0 4 5 104 28 140
Quest Diagnostics Nichols Institute San Juan Capistrano 0 285 0 62 59 1 11 133
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 73 0 25 29 4 1 59
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 142 0 31 23 0 1 55
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 168 0 24 0 2 20 46
PharmGKB 0 0 0 0 0 39 0 39
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 88 0 25 0 0 10 35
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 3 26 4 0 0 33
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 62 0 7 19 1 1 28
Blueprint Genetics 0 54 0 10 5 0 12 27
Natera, Inc. 0 77 0 3 18 3 1 25
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 37 0 8 2 4 8 20
CFTR-France 0 5 0 3 0 0 17 20
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 36 0 13 5 0 0 18
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 2 0 6 1 1 12 18
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 19 0 11 5 0 0 16
CSER _CC_NCGL, University of Washington 0 10 0 4 7 0 2 13
NIHR Bioresource Rare Diseases, University of Cambridge 0 12 0 6 1 1 8 13
Gharavi Laboratory,Columbia University 0 17 0 4 3 0 6 13
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 31 0 4 5 0 3 12
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 17 0 2 5 0 3 10
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 46 0 10 0 0 0 10
Medical Genetics Summaries 0 0 0 0 0 10 0 10
Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino 0 6 0 1 5 0 3 9
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 1 0 2 1 1 7 8
RettBASE 0 42 0 4 3 0 0 7
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 23 0 3 1 1 2 7
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 10 0 2 2 0 2 6
Center for Genetic Medicine Research,Children's National Medical Center 0 5 0 0 4 0 2 6
Bruce Budowle Laboratory,University of North Texas Health Science Center 0 0 0 0 0 6 0 6
Faculty of Health Sciences,Beirut Arab University 0 2 0 0 0 0 6 6
Mendelics 0 13 0 2 3 0 0 5
Clinical Pharmacogenetics Implementation Consortium 0 0 0 0 0 5 0 5
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 4 0 4 0 0 1 5
New York Genome Center 0 23 0 1 3 1 2 5
GeneReviews 0 6 1 0 3 0 0 4
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 0 0 0 3 1 0 0 4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 3 2 4
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 10 0 3 1 0 0 4
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 34 0 0 1 1 1 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 20 0 0 3 0 0 3
Claritas Genomics 0 18 0 2 1 0 0 3
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 18 0 2 0 0 1 3
Elsea Laboratory,Baylor College of Medicine 0 0 0 1 0 1 3 3
Fulgent Genetics,Fulgent Genetics 0 55 0 0 2 1 0 3
UniProtKB/Swiss-Prot 0 20 0 1 2 0 0 3
University of Washington Center for Mendelian Genomics, University of Washington 0 2 0 1 0 1 3 3
Albrecht-Kossel-Institute,Medical University Rostock 0 0 0 0 0 3 0 3
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 1 0 1 2 1 2 3
Leiden Open Variation Database 0 8 0 1 2 0 0 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 3 0 1 0 0 2 3
Broad Institute Rare Disease Group, Broad Institute 0 9 0 0 3 0 0 3
MAGI's Lab - Research,MAGI Group 0 1 0 0 1 0 2 3
Baylor Genetics 0 0 0 1 0 1 2 2
Centogene AG - the Rare Disease Company 0 4 0 2 0 0 0 2
GenMed Metabolism Lab 0 7 0 0 0 0 2 2
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 1 0 0 1 1 0 2
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 2 0 1 1 2
Human Genetics - Radboudumc,Radboudumc 0 0 0 0 0 0 2 2
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 0 2 0 1 1 2
Undiagnosed Diseases Network,NIH 0 1 0 1 1 1 2 2
Sharon lab,Hadassah-Hebrew University Medical Center 0 3 0 1 0 0 1 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 7 0 0 2 0 0 2
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 6 0 1 0 0 1 2
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 4 0 0 2 0 0 2
Department of Neurology, Guangzhou First People’s Hospital,School of Medicine, South China University of Technology 0 1 0 0 0 0 2 2
Paris Brain Institute,Inserm - ICM 0 0 0 0 1 0 1 2
King Laboratory,University of Washington 0 0 0 0 1 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 4 0 0 0 0 1 1
FirmaLab,FirmaLab 0 0 0 0 0 1 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 0 0 0 1 1
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 45006 0 0 1 1 1 1 1
Eye Genetics Research Group,Children's Medical Research Institute 0 1 0 0 1 0 0 1
Human Genetics School of Medicine of Albacete, Castilla-La Mancha University 0 0 0 0 0 0 1 1
Department of Psychiatry,Nagoya University 0 0 0 1 0 1 1 1
Department of Prosthodontics,Peking University School and Hospital of Stomatology 0 0 0 0 0 0 1 1
Center for Medical Genetics Ghent,University of Ghent 0 0 0 1 0 1 1 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 0 0 1 1 1 1
Foundation Medicine, Inc. 0 0 0 0 1 0 0 1
GeneKor MSA 0 35 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 1 1 1 1 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 2 0 0 1 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 13 0 1 0 0 0 1
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 0 0 0 0 0 0 1 1
Pediatric Highly Intensive Care Unit,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 1 0 1 1 1
Daryl Scott Lab,Baylor College of Medicine 0 0 0 1 0 1 1 1
Research and Development, ARUP Laboratories 0 5 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 5 0 1 1 1 1 1
Institute of Human Genetics, University of Leipzig Medical Center 0 1 0 0 0 1 0 1
Endocrine oncology group, Uppsala University 0 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 0 3 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 0 1 1 1 1 1
Department of Pathology and Molecular Medicine,Queen's University 0 9 0 0 1 0 0 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 0 1 0 1 1 1
Flegel Lab,National Institutes of Health 0 0 0 1 0 1 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 4 0 1 0 0 0 1
Molecular Medicine,University of Leeds 0 1 0 0 0 0 1 1
Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Peking Union Medical College Hospital 0 0 0 0 0 0 1 1
Inherited Neuropathy Consortium 0 1 0 0 0 0 1 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 0 0 1 0 0 0 1
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 0 0 0 0 1 1 1 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 0 1 1 1 1 1
CIViC knowledgebase,Washington University School of Medicine 0 0 0 0 0 1 0 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 0 1 1 1 1 1
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 3 0 1 0 0 0 1
Michaelson Lab,University of Iowa 0 0 0 0 1 1 1 1
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 1 0 0 0 1 0 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 0 0 0 1 0 1 1 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 1 0 1 1 1
Bioinformatics Institute,Agency for Science, Technology and Research 0 0 0 0 0 1 0 1
Genesis Genome Database 0 1 0 0 1 0 0 1
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1
Central Laboratory,The First Hospital of Lanzhou University 0 0 0 1 0 1 1 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 0 0 1 0 1 1 1
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 0 0 0 1 0 1 1 1
Department of Vascular Biology,Beijing Anzhen Hospital 0 0 0 1 0 0 0 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research,University of Tasmania 0 0 0 1 1 1 1 1
Wilkie Group, Clinical Genetics Lab, WIMM,University of Oxford 0 0 0 1 0 1 1 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 5 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 11638
Download table as spreadsheet
HGVS dbSNP
CYP2C19*17 rs12248560
CYP2C19*3 rs4986893
CYP2C19*4A rs28399504
CYP2C19*5 rs56337013
CYP2C19*8 rs41291556
CYP2C9*2 rs1799853
CYP2C9*3 rs1057910
CYP2C9*5 rs28371686
CYP2C9*6 rs9332131
CYP2D6*10 rs1065852
CYP2D6*17 rs28371706
CYP2D6*4 rs3892097
CYP2D6*41 rs28371725
CYP2D6*6 rs5030655
NM_000016.5(ACADM):c.127G>A (p.Glu43Lys) rs147559466
NM_000016.5(ACADM):c.351A>C (p.Thr117=) rs74090726
NM_000016.5(ACADM):c.387+1del rs786204424
NM_000016.5(ACADM):c.388-5G>A rs759254037
NM_000016.5(ACADM):c.443G>A (p.Arg148Lys) rs778906552
NM_000016.5(ACADM):c.558T>A (p.Asn186Lys) rs754359356
NM_000016.5(ACADM):c.616C>T (p.Arg206Cys) rs373715782
NM_000016.5(ACADM):c.734C>T (p.Ser245Leu) rs121434281
NM_000016.5(ACADM):c.994C>T (p.Leu332=) rs138098371
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) rs150140386
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro) rs776063244
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp) rs533055438
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016
NM_000018.4(ACADVL):c.1434+14T>A rs202217537
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617
NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu) rs28934585
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791
NM_000018.4(ACADVL):c.678C>A (p.Ala226=) rs372114185
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys) rs758647756
NM_000023.4(SGCA):c.1120C>T (p.Arg374Cys) rs35495899
NM_000023.4(SGCA):c.189C>T (p.His63=) rs373770886
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys) rs138945081
NM_000023.4(SGCA):c.329G>A (p.Arg110Gln) rs145697858
NM_000023.4(SGCA):c.366G>A (p.Leu122=) rs147739328
NM_000023.4(SGCA):c.408C>T (p.Ala136=) rs143551687
NM_000023.4(SGCA):c.541C>A (p.Arg181Ser) rs574376340
NM_000023.4(SGCA):c.62C>T (p.Thr21Ile) rs199804735
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg) rs201131924
NM_000023.4(SGCA):c.690G>C (p.Leu230=) rs139454982
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936
NM_000023.4(SGCA):c.861G>A (p.Leu287=) rs1555569293
NM_000026.4(ADSL):c.124C>T (p.Leu42=) rs2228415
NM_000026.4(ADSL):c.1291G>A (p.Ala431Thr) rs200814886
NM_000026.4(ADSL):c.270T>C (p.Ala90=) rs143275316
NM_000026.4(ADSL):c.357+7G>A rs199993991
NM_000026.4(ADSL):c.579G>C (p.Leu193=) rs751928831
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser) rs148411623
NM_000026.4(ADSL):c.649C>G (p.His217Asp) rs199761158
NM_000026.4(ADSL):c.702-7T>C rs201509960
NM_000026.4(ADSL):c.735A>T (p.Arg245=) rs143977255
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys) rs369664123
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177
NM_000030.3(AGXT):c.866G>A (p.Arg289His) rs61729604
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp) rs398123106
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.4(ABCD1):c.498_520del (p.Val167fs) rs398123112
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000035.4(ALDOB):c.1000-3T>C rs369238799
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928
NM_000035.4(ALDOB):c.156T>G (p.Thr52=) rs149671008
NM_000035.4(ALDOB):c.488C>T (p.Ala163Val) rs202210810
NM_000035.4(ALDOB):c.525C>T (p.Ala175=) rs144196914
NM_000035.4(ALDOB):c.582T>C (p.Asp194=) rs141988626
NM_000035.4(ALDOB):c.681C>T (p.Thr227=) rs61757689
NM_000035.4(ALDOB):c.759C>T (p.Thr253=) rs146360505
NM_000035.4(ALDOB):c.799+6G>A rs141888548
NM_000036.2(AMPD1):c.1261C>T (p.Arg421Trp) rs35859650
NM_000036.2(AMPD1):c.133C>T (p.Gln45Ter) rs17602729
NM_000036.2(AMPD1):c.242C>T (p.Pro81Leu) rs61752479
NM_000036.2(AMPD1):c.433G>A (p.Val145Met) rs61741025
NM_000036.2(AMPD1):c.567G>T (p.Gln189His) rs139582106
NM_000036.2(AMPD1):c.959A>T (p.Lys320Ile) rs34526199
NM_000038.6(APC):c.1005A>G (p.Leu335=) rs3797704
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759
NM_000038.6(APC):c.2250A>T (p.Pro750=) rs376526724
NM_000038.6(APC):c.2262T>G (p.Val754=) rs148987776
NM_000038.6(APC):c.2547_2550del (p.Asp849fs) rs398123118
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp) rs140493115
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000038.6(APC):c.3471G>A (p.Glu1157=) rs143927847
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000038.6(APC):c.4212C>T (p.Ser1404=) rs144655979
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289
NM_000038.6(APC):c.532-32T>C rs112108777
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478
NM_000038.6(APC):c.705A>G (p.Leu235=) rs147036141
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) rs2229995
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412
NM_000041.4(APOE):c.388T>C (p.Cys130Arg) rs429358
NM_000046.5(ARSB):c.1072G>A (p.Val358Met) rs1065757
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448
NM_000047.2(ARSL):c.715G>A (p.Ala239Thr) rs144630754
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys) rs28940287
NM_000048.4(ASL):c.1164C>T (p.His388=) rs75300185
NM_000048.4(ASL):c.332G>A (p.Arg111Gln) rs561367199
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923
NM_000048.4(ASL):c.556C>A (p.Arg186=) rs111407265
NM_000048.4(ASL):c.576G>A (p.Lys192=) rs115468878
NM_000051.3(ATM):c.1009C>T (p.Arg337Cys) rs138398778
NM_000051.3(ATM):c.1073A>G (p.Asn358Ser) rs149636614
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1380G>C (p.Thr460=) rs145333518
NM_000051.3(ATM):c.162T>C (p.Tyr54=) rs3218690
NM_000051.3(ATM):c.1744T>C (p.Phe582Leu) rs2235006
NM_000051.3(ATM):c.2096A>G (p.Glu699Gly) rs147934285
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.2346A>G (p.Leu782=) rs730881285
NM_000051.3(ATM):c.2362A>C (p.Ser788Arg) rs641252
NM_000051.3(ATM):c.2572T>C (p.Phe858Leu) rs1800056
NM_000051.3(ATM):c.2922-8T>A rs545892367
NM_000051.3(ATM):c.3014A>G (p.Asn1005Ser) rs146531614
NM_000051.3(ATM):c.3383A>G (p.Gln1128Arg) rs2229020
NM_000051.3(ATM):c.3517T>C (p.Leu1173=) rs141460670
NM_000051.3(ATM):c.378T>A (p.Asp126Glu) rs2234997
NM_000051.3(ATM):c.4138C>T (p.His1380Tyr) rs3092856
NM_000051.3(ATM):c.4258C>T (p.Leu1420Phe) rs1800058
NM_000051.3(ATM):c.4473C>T (p.Phe1491=) rs4988008
NM_000051.3(ATM):c.4665C>T (p.Leu1555=) rs374431061
NM_000051.3(ATM):c.4949A>G (p.Asn1650Ser) rs55870064
NM_000051.3(ATM):c.5352C>T (p.Asn1784=) rs140641762
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.610G>A (p.Gly204Arg) rs147915571
NM_000051.3(ATM):c.6234C>T (p.Ser2078=) rs569483748
NM_000051.3(ATM):c.6465G>A (p.Val2155=) rs140423883
NM_000051.3(ATM):c.6919C>T (p.Leu2307Phe) rs56009889
NM_000051.3(ATM):c.6995T>C (p.Leu2332Pro) rs4988111
NM_000051.3(ATM):c.7592T>C (p.Met2531Thr) rs587781365
NM_000051.3(ATM):c.7788+8G>T rs112775908
NM_000051.3(ATM):c.7928-10T>C rs188404773
NM_000051.3(ATM):c.8518T>C (p.Leu2840=) rs794727769
NM_000051.3(ATM):c.8987+3G>A rs56360226
NM_000051.4(ATM):c.1066-6T>G rs201686625
NM_000051.4(ATM):c.146C>G rs1800054
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) rs146382972
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp) rs138828590
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr) rs567060474
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile) rs147604227
NM_000051.4(ATM):c.8545C>T rs587778080
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) rs146692150
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049
NM_000052.7(ATP7A):c.4226+11T>C rs200009243
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val) rs534960245
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) rs116587608
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=) rs746358240
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=) rs373081328
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=) rs375007352
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850
NM_000053.4(ATP7B):c.3903+6C>T rs2282057
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val) rs61733680
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686
NM_000057.4(BLM):c.1722A>G (p.Leu574=) rs28385011
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266
NM_000057.4(BLM):c.2555+7T>C rs3815003
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935
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.3625T>A (p.Ser1209Thr) rs1801256
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) rs1063147
NM_000057.4(BLM):c.4076+4T>G rs183176301
NM_000057.4(BLM):c.4077-10C>T rs145310008
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) rs28384988
NM_000059.3(BRCA2):c.-11C>T rs76874770
NM_000059.3(BRCA2):c.10102T>C (p.Ser3368Pro) rs786205482
NM_000059.3(BRCA2):c.1021T>C (p.Cys341Arg) rs55833327
NM_000059.3(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493
NM_000059.3(BRCA2):c.1123C>T (p.Pro375Ser) rs80358408
NM_000059.3(BRCA2):c.1167G>A (p.Pro389=) rs148607710
NM_000059.3(BRCA2):c.1275A>G (p.Glu425=) rs34355306
NM_000059.3(BRCA2):c.1788T>C (p.Asp596=) rs11571642
NM_000059.3(BRCA2):c.1911T>C (p.Gly637=) rs11571652
NM_000059.3(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687
NM_000059.3(BRCA2):c.2145A>G (p.Gly715=) rs112566179
NM_000059.3(BRCA2):c.2944A>C (p.Ile982Leu) rs28897717
NM_000059.3(BRCA2):c.3173A>G (p.Lys1058Arg) rs431825302
NM_000059.3(BRCA2):c.3880T>C (p.Leu1294=) rs786201236
NM_000059.3(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656
NM_000059.3(BRCA2):c.4071A>C (p.Leu1357=) rs140556653
NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.3(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664
NM_000059.3(BRCA2):c.4584C>T (p.Ser1528=) rs80359788
NM_000059.3(BRCA2):c.502C>A (p.Pro168Thr) rs80358726
NM_000059.3(BRCA2):c.516+14C>T rs182828913
NM_000059.3(BRCA2):c.517-19C>T rs11571623
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.6057C>T (p.Asn2019=) rs147961615
NM_000059.3(BRCA2):c.6143A>T (p.Asn2048Ile) rs80358853
NM_000059.3(BRCA2):c.6288T>G (p.Pro2096=) rs372527810
NM_000059.3(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659
NM_000059.3(BRCA2):c.67+16A>T rs529148674
NM_000059.3(BRCA2):c.6803G>A (p.Arg2268Lys) rs80358906
NM_000059.3(BRCA2):c.6877T>C (p.Phe2293Leu) rs80358912
NM_000059.3(BRCA2):c.7007+53G>A rs56014558
NM_000059.3(BRCA2):c.7008-62A>G rs76584943
NM_000059.3(BRCA2):c.7630G>A (p.Gly2544Ser) rs587781485
NM_000059.3(BRCA2):c.8573A>G (p.Gln2858Arg) rs80359114
NM_000059.3(BRCA2):c.9270C>T (p.Phe3090=) rs587780873
NM_000059.3(BRCA2):c.9720T>C (p.Val3240=) rs80359810
NM_000059.3(BRCA2):c.9843A>G (p.Pro3281=) rs11571832
NM_000059.4(BRCA2):c.-15A>C rs138705202
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=) rs41293473
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His) rs80358398
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.125A>G (p.Tyr42Cys) rs4987046
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala) rs56091799
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.1798T>C (p.Tyr600His) rs75419644
NM_000059.4(BRCA2):c.1909+9_1909+10del rs527732001
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile) rs276174831
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944
NM_000059.4(BRCA2):c.322A>C (p.Asn108His) rs80358567
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn) rs80358782
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.4(BRCA2):c.6275_6276del rs11571658
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.4(BRCA2):c.6513G>T (p.Val2171=) rs206076
NM_000059.4(BRCA2):c.68-7T>A rs81002830
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749
NM_000059.4(BRCA2):c.8487+19A>G rs11571743
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.865A>C (p.Asn289His) rs766173
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.9730G>A (p.Val3244Ile) rs11571831
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000067.3(CA2):c.35-7C>A rs371766356
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676
NM_000070.3(CAPN3):c.1017G>A (p.Thr339=) rs141934227
NM_000070.3(CAPN3):c.1029+3A>G rs28364442
NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln) rs988027905
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.1263G>A (p.Leu421=) rs372450879
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792
NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys) rs777483913
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg) rs150226817
NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418
NM_000070.3(CAPN3):c.1668C>T (p.Ile556=) rs199884116
NM_000070.3(CAPN3):c.1745+4_1745+7del rs794727082
NM_000070.3(CAPN3):c.1746-20C>G rs201892814
NM_000070.3(CAPN3):c.1783-5T>C rs780680647
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879
NM_000070.3(CAPN3):c.1830C>T (p.Asn610=) rs202019404
NM_000070.3(CAPN3):c.2051-3C>A rs201294691
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=) rs147774793
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val) rs149969786
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625
NM_000070.3(CAPN3):c.2380+12del rs28364538
NM_000070.3(CAPN3):c.2433T>C (p.Val811=) rs28364543
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu) rs886042478
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.338T>C (p.Ile113Thr) rs747026964
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly) rs17592
NM_000070.3(CAPN3):c.495C>T (p.Phe165=) rs1801324
NM_000070.3(CAPN3):c.525C>T (p.Asp175=) rs144383442
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) rs35889956
NM_000070.3(CAPN3):c.552G>A (p.Thr184=) rs147808529
NM_000070.3(CAPN3):c.606T>C (p.Ser202=) rs17593
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu) rs28364364
NM_000070.3(CAPN3):c.640G>A (p.Gly214Ser) rs369784333
NM_000070.3(CAPN3):c.930T>C (p.Asp310=) rs150356488
NM_000070.3(CAPN3):c.956C>T (p.Pro319Leu) rs121434547
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496
NM_000070.3(CAPN3):c.984C>T (p.Cys328=) rs28364441
NM_000071.2(CBS):c.1257G>A (p.Leu419=) rs138432416
NM_000071.2(CBS):c.502G>A (p.Val168Met) rs121964970
NM_000071.2(CBS):c.52C>T (p.Arg18Cys) rs201827340
NM_000071.2(CBS):c.536_553del (p.Asp179_Leu184del) rs794727835
NM_000071.2(CBS):c.939G>A (p.Thr313=) rs2228298
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420
NM_000074.2(CD40LG):c.-191A>C rs36206512
NM_000077.4(CDKN2A):c.-25C>T rs144481587
NM_000077.4(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464
NM_000077.4(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249
NM_000078.3(CETP):c.940G>A (p.Glu314Lys) rs140547417
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) rs144169073
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu) rs139171143
NM_000080.4(CHRNE):c.1480_*48delinsC (p.Ter494LeuextTer?) rs1555546038
NM_000080.4(CHRNE):c.465C>T (p.Phe155=) rs139625105
NM_000082.3(ERCC8):c.66G>A (p.Glu22=) rs149130938
NM_000082.4(ERCC8):c.839C>A rs61754098
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953
NM_000083.3(CLCN1):c.1392C>T (p.Phe464=) rs201919331
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140
NM_000086.2(CLN3):c.1230G>A (p.Ala410=) rs201206239
NM_000086.2(CLN3):c.240G>A (p.Thr80=) rs373911322
NM_000086.2(CLN3):c.313A>G (p.Ile105Val) rs11552531
NM_000086.2(CLN3):c.318C>T (p.Leu106=) rs148248159
NM_000086.2(CLN3):c.537C>G (p.Ala179=) rs147667964
NM_000086.2(CLN3):c.768C>T (p.Thr256=) rs145967477
NM_000086.2(CLN3):c.831G>A (p.Val277=) rs1142183
NM_000087.4(CNGA1):c.372C>T (p.Asn124=) rs147591591
NM_000088.3(COL1A1):c.1002+10G>T rs368316440
NM_000088.3(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221
NM_000088.3(COL1A1):c.1984-5C>A rs66592376
NM_000088.3(COL1A1):c.2838T>G (p.Pro946=) rs1555572418
NM_000088.3(COL1A1):c.299-9G>T rs373041336
NM_000088.3(COL1A1):c.3123C>T (p.Pro1041=) rs145608939
NM_000088.3(COL1A1):c.3226G>A (p.Gly1076Ser) rs67394386
NM_000088.3(COL1A1):c.3258C>T (p.Pro1086=) rs200319927
NM_000088.3(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946
NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) rs72667032
NM_000088.3(COL1A1):c.627C>T (p.Gly209=) rs201136122
NM_000088.3(COL1A1):c.904-9G>T rs141726413
NM_000089.3(COL1A2):c.2904C>T (p.Pro968=) rs142352627
NM_000089.3(COL1A2):c.2944-4A>T rs143220941
NM_000089.3(COL1A2):c.304C>T (p.Pro102Ser) rs189557655
NM_000089.3(COL1A2):c.3139G>A (p.Val1047Met) rs35820023
NM_000089.3(COL1A2):c.3613C>T (p.Arg1205Trp) rs150124840
NM_000089.3(COL1A2):c.3853A>C (p.Asn1285His) rs144797861
NM_000089.3(COL1A2):c.948C>T (p.Gly316=) rs34511999
NM_000089.4(COL1A2):c.594+5A>T rs200744314
NM_000090.3(COL3A1):c.1815+5G>A rs146652498
NM_000090.3(COL3A1):c.1927T>C (p.Leu643=) rs41263757
NM_000090.3(COL3A1):c.2550T>C (p.Pro850=) rs794727586
NM_000090.3(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075
NM_000090.3(COL3A1):c.4021G>A (p.Gly1341Ser) rs140646380
NM_000090.3(COL3A1):c.4086C>T (p.Ser1362=) rs779774302
NM_000090.3(COL3A1):c.792A>G (p.Gly264=) rs113304344
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000091.4(COL4A3):c.2699T>C (p.Ile900Thr) rs201665434
NM_000091.4(COL4A3):c.2848G>A (p.Val950Ile) rs200044988
NM_000091.4(COL4A3):c.2886C>T (p.Phe962=) rs77846212
NM_000091.4(COL4A3):c.3825C>T (p.His1275=) rs143380907
NM_000091.4(COL4A3):c.4295G>A (p.Arg1432His) rs200509072
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.4981C>T (p.Arg1661Cys) rs201697532
NM_000091.5(COL4A3):c.1886C>T rs139361545
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074
NM_000091.5(COL4A3):c.3829G>A rs190598500
NM_000092.4(COL4A4):c.1776T>C (p.Ala592=) rs188655353
NM_000092.4(COL4A4):c.195T>C (p.Gly65=) rs201278620
NM_000092.4(COL4A4):c.2056+10A>G rs138869451
NM_000092.4(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.4(COL4A4):c.2589C>T (p.Pro863=) rs772517977
NM_000092.4(COL4A4):c.4185G>A (p.Gly1395=) rs55978207
NM_000092.4(COL4A4):c.90C>T (p.Leu30=) rs747805491
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_000093.5(COL5A1):c.67CTG[7] (p.Leu28dup) rs773994971
NM_000094.3(COL7A1):c.5910C>T (p.Phe1970=) rs141290741
NM_000094.4(COL7A1):c.1907G>T rs116005007
NM_000095.3(COMP):c.1488C>A (p.Asp496Glu) rs143714206
NM_000095.3(COMP):c.763-8T>C rs374063820
NM_000096.4(CP):c.2522C>G (p.Thr841Arg) rs56033670
NM_000096.4(CP):c.2571C>T (p.Tyr857=) rs151304828
NM_000098.3(CPT2):c.1342T>C (p.Phe448Leu) rs74315297
NM_000098.3(CPT2):c.1422C>A (p.Ala474=) rs192779168
NM_000098.3(CPT2):c.1806T>C (p.Phe602=) rs147953465
NM_000098.3(CPT2):c.371G>C (p.Arg124Pro) rs1131691925
NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe) rs515726173
NM_000100.3(CSTB):c.*7C>G rs201576714
NM_000100.3(CSTB):c.121G>A (p.Val41Met) rs143153487
NM_000100.3(CSTB):c.15G>T (p.Ala5=) rs4533
NM_000101.4(CYBA):c.179A>C (p.Lys60Thr) rs11547387
NM_000101.4(CYBA):c.403G>A (p.Glu135Lys) rs114610092
NM_000101.4(CYBA):c.524CGG[3] (p.Ala176dup) rs760275837
NM_000104.3(CYP1B1):c.1103G>A (p.Arg368His) rs79204362
NM_000104.3(CYP1B1):c.1169G>A (p.Arg390His) rs56010818
NM_000104.3(CYP1B1):c.1294= (p.Leu432=) rs1056836
NM_000104.3(CYP1B1):c.1358A>G (p.Asn453Ser) rs1800440
NM_000104.3(CYP1B1):c.155C>T (p.Pro52Leu) rs201824781
NM_000104.3(CYP1B1):c.1590T>C (p.Asp530=) rs146770394
NM_000104.3(CYP1B1):c.241T>A (p.Tyr81Asn) rs9282671
NM_000106.5(CYP2D6):c.*264G>A (p.Gly169Arg) rs5030865
NM_000106.5(CYP2D6):c.124G>A (p.Gly42Arg) rs5030862
NM_000106.5(CYP2D6):c.505G>T (p.Gly169Ter) rs5030865
NM_000106.5(CYP2D6):c.775delA (p.Arg259Glyfs) rs35742686
NM_000106.5(CYP2D6):c.841_843delAAG (p.Lys281del) rs5030656
NM_000106.5(CYP2D6):c.971A>C (p.His324Pro) rs5030867
NM_000106.6(CYP2D6):c.1012G>A (p.Val338Met) rs59421388
NM_000106.6(CYP2D6):c.1457G>C (p.Ser486Thr) rs1135840
NM_000108.5(DLD):c.439-7T>C rs10263341
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000109.4(DMD):c.1294G>A (p.Glu432Lys) rs189143447
NM_000109.4(DMD):c.1700T>C (p.Leu567Pro) rs370644567
NM_000109.4(DMD):c.69+5590T>A rs1557211730
NM_000109.4(DMD):c.7+127911dup rs398123823
NM_000109.4(DMD):c.7547G>A (p.Arg2516His) rs151244052
NM_000110.3(DPYD):c.775A>G (p.Lys259Glu) rs45589337
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn) rs1801158
NM_000110.4(DPYD):c.1905+1G>A rs3918290
NM_000112.3(SLC26A2):c.2087A>G (p.Asn696Ser) rs34351171
NM_000112.3(SLC26A2):c.987T>C (p.Leu329=) rs116302615
NM_000113.3(TOR1A):c.646G>C (p.Asp216His) rs1801968
NM_000113.3(TOR1A):c.990C>T (p.Tyr330=) rs148849547
NM_000117.2(EMD):c.12C>T (p.Tyr4=) rs782011714
NM_000117.2(EMD):c.171C>T (p.Ser57=) rs900267221
NM_000117.2(EMD):c.428C>T (p.Ser143Phe) rs139983160
NM_000117.2(EMD):c.445G>C (p.Asp149His) rs2070818
NM_000117.2(EMD):c.454C>T (p.Arg152Cys) rs376456050
NM_000117.2(EMD):c.466G>C (p.Gly156Arg) rs144594695
NM_000117.2(EMD):c.525C>T (p.Ser175=) rs782367505
NM_000117.2(EMD):c.537G>A (p.Leu179=) rs368661339
NM_000117.2(EMD):c.662G>T (p.Arg221Leu) rs782057378
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.1510G>A (p.Val504Met) rs116330805
NM_000118.3(ENG):c.392C>T (p.Pro131Leu) rs139398993
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528
NM_000124.4(ERCC6):c.1274A>C (p.Asp425Ala) rs4253046
NM_000124.4(ERCC6):c.1526+1G>T rs371739894
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163
NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met) rs55698015
NM_000124.4(ERCC6):c.2124C>T (p.Ser708=) rs114832108
NM_000124.4(ERCC6):c.2287-4G>A rs375617750
NM_000124.4(ERCC6):c.2403C>T (p.Ala801=) rs114896216
NM_000124.4(ERCC6):c.2479C>T (p.Leu827=) rs115875661
NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln) rs145720191
NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val) rs41562713
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527
NM_000124.4(ERCC6):c.3650T>G (p.Phe1217Cys) rs61760166
NM_000124.4(ERCC6):c.3719G>T (p.Ser1240Ile) rs142219494
NM_000124.4(ERCC6):c.4065T>G (p.Asp1355Glu) rs34917815
NM_000124.4(ERCC6):c.4223A>C (p.Glu1408Ala) rs61760167
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529
NM_000124.4(ERCC6):c.438C>T (p.Ser146=) rs138756386
NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe) rs150935953
NM_000124.4(ERCC6):c.813C>T (p.Phe271=) rs764319566
NM_000126.4(ETFA):c.2T>C (p.Met1Thr) rs727503918
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg) rs140169311
NM_000126.4(ETFA):c.6C>T (p.Phe2=) rs749929239
NM_000127.2(EXT1):c.2148G>A (p.Pro716=) rs757499157
NM_000128.3(F11):c.1305-9G>T rs4253426
NM_000128.3(F11):c.400C>T (p.Gln134Ter) rs756908183
NM_000131.4(F7):c.806-10T>C rs3093266
NM_000133.3(F9):c.580A>G (p.Thr194Ala) rs6048
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751
NM_000136.3(FANCC):c.1485G>A (p.Leu495=) rs56082100
NM_000136.3(FANCC):c.345+4AG[2] rs755657969
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361
NM_000137.3(FAH):c.1021C>T (p.Arg341Trp) rs11555096
NM_000137.3(FAH):c.1259G>A (p.Ter420=) rs61747586
NM_000137.3(FAH):c.243G>A (p.Ala81=) rs36122289
NM_000137.3(FAH):c.296A>G (p.Asp99Gly) rs547847694
NM_000137.3(FAH):c.553+10C>T rs201051426
NM_000137.3(FAH):c.870C>T (p.Asp290=) rs377480457
NM_000137.4(FAH):c.1062+5G>A rs80338901
NM_000138.4(FBN1):c.1960+30G>A rs25459
NM_000138.4(FBN1):c.2148A>G (p.Gly716=) rs141039922
NM_000138.4(FBN1):c.2892C>T (p.Asp964=) rs116945525
NM_000138.4(FBN1):c.3082+8del rs193922196
NM_000138.4(FBN1):c.3464-6C>T rs375596551
NM_000138.4(FBN1):c.4443C>T (p.Ser1481=) rs145040593
NM_000138.4(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.4(FBN1):c.5358T>C (p.Val1786=) rs1057521207
NM_000138.4(FBN1):c.5423-4G>A rs377036485
NM_000138.4(FBN1):c.5964C>T (p.Thr1988=) rs113022801
NM_000138.4(FBN1):c.6189G>A (p.Ala2063=) rs375624881
NM_000138.4(FBN1):c.6852T>C (p.Pro2284=) rs201226058
NM_000138.4(FBN1):c.75G>A (p.Ala25=) rs543230518
NM_000138.4(FBN1):c.7902C>T (p.Pro2634=) rs138621371
NM_000138.4(FBN1):c.7964C>T (p.Ala2655Val) rs202240409
NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008
NM_000138.4(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466
NM_000138.5(FBN1):c.1746C>T (p.Cys582=) rs112366266
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730
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.3509G>A (p.Arg1170His) rs137854475
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=) rs113115949
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.59A>G (p.Tyr20Cys) rs201309310
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) rs111844882
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.7950T>C (p.Asn2650=) rs143055643
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) rs363847
NM_000141.5(FGFR2):c.1040C>G (p.Ser347Cys) rs121918494
NM_000141.5(FGFR2):c.1539C>T (p.Thr513=) rs74160617
NM_000141.5(FGFR2):c.1572A>G (p.Thr524=) rs74160613
NM_000141.5(FGFR2):c.1788G>A (p.Glu596=) rs56335660
NM_000141.5(FGFR2):c.2106G>A (p.Ser702=) rs794727163
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser) rs147307031
NM_000141.5(FGFR2):c.759T>G (p.Pro253=) rs3135755
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656
NM_000142.5(FGFR3):c.130G>A (p.Gly44Ser) rs146080119
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104
NM_000142.5(FGFR3):c.1497C>T (p.Ala499=) rs140594137
NM_000142.5(FGFR3):c.150C>T (p.Val50=) rs750641928
NM_000142.5(FGFR3):c.169G>A (p.Val57Met) rs61735064
NM_000142.5(FGFR3):c.2043G>A (p.Gly681=) rs17883356
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu) rs144995231
NM_000142.5(FGFR3):c.666C>T (p.Asp222=) rs201081464
NM_000143.3(FH):c.1154C>A (p.Ala385Asp) rs727503926
NM_000143.3(FH):c.1301G>A (p.Cys434Tyr) rs398123164
NM_000143.3(FH):c.208G>A (p.Ala70Thr) rs587782207
NM_000143.3(FH):c.892G>C (p.Ala298Pro) rs201395553
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598
NM_000144.5(FXN):c.626A>G (p.Asp209Gly) rs74621026
NM_000145.3(FSHR):c.446+10T>C rs200504733
NM_000147.4(FUCA1):c.29C>G (p.Pro10Arg) rs2070956
NM_000151.4(G6PC1):c.340+10C>A rs368450665
NM_000151.4(G6PC1):c.562+10G>A rs199505156
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.5(GAA):c.-2C>T rs560511228
NM_000152.5(GAA):c.1075+9T>C rs751918816
NM_000152.5(GAA):c.1083G>A (p.Pro361=) rs781379047
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304
NM_000152.5(GAA):c.1285C>G (p.Gln429Glu) rs528369909
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882
NM_000152.5(GAA):c.1327-18A>G rs2278619
NM_000152.5(GAA):c.1343G>C (p.Ser448Thr) rs145712232
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys) rs771213237
NM_000152.5(GAA):c.1416C>T (p.Thr472=) rs368492669
NM_000152.5(GAA):c.1438-7_1438-5del rs764583466
NM_000152.5(GAA):c.1438-9G>A rs202211401
NM_000152.5(GAA):c.1482A>G (p.Thr494=) rs202064115
NM_000152.5(GAA):c.1536C>T (p.Phe512=) rs143491365
NM_000152.5(GAA):c.1552-13G>A rs111261964
NM_000152.5(GAA):c.1552-3C>G rs375470378
NM_000152.5(GAA):c.1593C>T (p.Asp531=) rs138732016
NM_000152.5(GAA):c.1599C>T (p.Cys533=) rs142766716
NM_000152.5(GAA):c.1629C>T (p.Tyr543=) rs372193105
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307
NM_000152.5(GAA):c.1842G>A (p.Thr614=) rs373955374
NM_000152.5(GAA):c.1888+10_1888+11insC rs748036956
NM_000152.5(GAA):c.18G>C (p.Pro6=) rs774703637
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460
NM_000152.5(GAA):c.2052G>A (p.Pro684=) rs546463058
NM_000152.5(GAA):c.2064C>T (p.Ser688=) rs140996643
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro) rs398123172
NM_000152.5(GAA):c.2109C>T (p.Tyr703=) rs150728610
NM_000152.5(GAA):c.2132C>G (p.Thr711Arg) rs759292700
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311
NM_000152.5(GAA):c.2157G>A (p.Ala719=) rs201523530
NM_000152.5(GAA):c.2190-4G>A rs759974338
NM_000152.5(GAA):c.2332-12A>T rs200965268
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591
NM_000152.5(GAA):c.2415G>A (p.Val805=) rs150536507
NM_000152.5(GAA):c.2417C>T (p.Thr806Met) rs139850074
NM_000152.5(GAA):c.2446G>A (p.Val816Ile) rs1800314
NM_000152.5(GAA):c.2481+16G>A rs41292408
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) rs149968110
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894
NM_000152.5(GAA):c.258C>A (p.Pro86=) rs146615896
NM_000152.5(GAA):c.2647-6G>A rs201525743
NM_000152.5(GAA):c.2647-8C>T rs139201641
NM_000152.5(GAA):c.2652G>A (p.Thr884=) rs143642048
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299
NM_000152.5(GAA):c.2736G>A (p.Ala912=) rs142472738
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315
NM_000152.5(GAA):c.2800-15CT[3] rs770227589
NM_000152.5(GAA):c.318C>T (p.Arg106=) rs762542246
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300
NM_000152.5(GAA):c.32G>A (p.Arg11Gln) rs138812846
NM_000152.5(GAA):c.368G>A (p.Gly123Glu) rs138034915
NM_000152.5(GAA):c.546+18G>A rs190153982
NM_000152.5(GAA):c.547-4C>G rs3816256
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393
NM_000152.5(GAA):c.600C>T (p.Val200=) rs150895924
NM_000152.5(GAA):c.664G>A (p.Val222Met) rs374569672
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395
NM_000152.5(GAA):c.692+9T>C rs367661167
NM_000152.5(GAA):c.693-4G>T rs200088236
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399
NM_000152.5(GAA):c.834G>A (p.Leu278=) rs776314424
NM_000152.5(GAA):c.858+6GCGGCGG[3] rs1555599723
NM_000152.5(GAA):c.858+8G>A rs5822325
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936
NM_000152.5(GAA):c.955+12G>A rs2252455
NM_000153.4(GALC):c.1158_1161+6del rs759068540
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328
NM_000153.4(GALC):c.195G>C (p.Gly65=) rs886042057
NM_000153.4(GALC):c.266C>T (p.Pro89Leu) rs201422931
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000153.4(GALC):c.349A>G (p.Met117Val) rs145580093
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.4(GALT):c.203A>C (p.His68Pro) rs193922247
NM_000155.4(GALT):c.414G>T (p.Thr138=) rs116479817
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000155.4(GALT):c.564+7G>A rs760189807
NM_000155.4(GALT):c.598del (p.Gln200fs) rs111033738
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217
NM_000155.4(GALT):c.812A>G (p.Glu271Gly) rs111033765
NM_000155.4(GALT):c.893T>C (p.Met298Thr) rs886042064
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982
NM_000156.6(GAMT):c.189G>C (p.Arg63=) rs568392459
NM_000156.6(GAMT):c.279C>T (p.Asp93=) rs144630886
NM_000156.6(GAMT):c.581T>C (p.Val194Ala) rs147739199
NM_000156.6(GAMT):c.670G>A (p.Ala224Thr) rs141471799
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152
NM_000157.3(GBA):c.1448T>C rs421016
NM_000157.4(GBA):c.1060G>C (p.Asp354His) rs398123526
NM_000157.4(GBA):c.1093G>A (p.Glu365Lys) rs2230288
NM_000157.4(GBA):c.1223C>T (p.Thr408Met) rs75548401
NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_000157.4(GBA):c.1227C>A (p.Asn409Lys) rs749227753
NM_000157.4(GBA):c.1448T>G (p.Leu483Arg) rs421016
NM_000157.4(GBA):c.1497G>C (p.Val499=) rs1135675
NM_000157.4(GBA):c.667T>C (p.Trp223Arg) rs61748906
NM_000157.4(GBA):c.721G>A (p.Gly241Arg) rs409652
NM_000157.4(GBA):c.882T>G (p.His294Gln) rs367968666
NM_000157.4(GBA):c.928A>G (p.Ser310Gly) rs1057942
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741
NM_000158.4(GBE1):c.405C>T (p.Leu135=) rs139882066
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902
NM_000159.4(GCDH):c.1143C>T (p.Ile381=) rs142553521
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr) rs567564095
NM_000159.4(GCDH):c.1167G>A (p.Leu389=) rs398123191
NM_000159.4(GCDH):c.471C>T (p.Ser157=) rs146682905
NM_000159.4(GCDH):c.997C>G (p.Gln333Glu) rs794726972
NM_000161.3(GCH1):c.610G>A (p.Val204Ile) rs200891969
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250
NM_000162.5(GCK):c.572G>A (p.Arg191Gln) rs886042610
NM_000162.5(GCK):c.660C>T (p.Cys220=) rs142952813
NM_000163.5(GHR):c.195A>G (p.Ser65=) rs140501920
NM_000163.5(GHR):c.535C>T (p.Arg179Cys) rs121909362
NM_000163.5(GHR):c.686G>A (p.Arg229His) rs6177
NM_000163.5(GHR):c.718T>C (p.Tyr240His) rs143814221
NM_000166.6(GJB1):c.271G>A (p.Val91Met) rs756928158
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825
NM_000168.6(GLI3):c.1182A>G (p.Pro394=) rs748606221
NM_000168.6(GLI3):c.1357-17C>G rs190600888
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756
NM_000168.6(GLI3):c.1485G>A (p.Glu495=) rs149248727
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710
NM_000168.6(GLI3):c.2245A>G (p.Ile749Val) rs140048578
NM_000168.6(GLI3):c.2373G>A (p.Pro791=) rs61754622
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) rs146458902
NM_000168.6(GLI3):c.363C>T (p.His121=) rs150295615
NM_000168.6(GLI3):c.3664C>T (p.Pro1222Ser) rs118149040
NM_000168.6(GLI3):c.3829C>G (p.Gln1277Glu) rs146582871
NM_000168.6(GLI3):c.4560G>A (p.Ser1520=) rs79625212
NM_000169.2(GLA):c.1019_1020insA (p.Trp340Ter) rs398123197
NM_000169.2(GLA):c.1085C>T (p.Pro362Leu) rs730880441
NM_000169.2(GLA):c.1088G>A (p.Arg363His) rs111422676
NM_000169.2(GLA):c.124A>C (p.Met42Leu) rs797044613
NM_000169.2(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.2(GLA):c.593T>C (p.Ile198Thr) rs727503950
NM_000169.2(GLA):c.610T>C (p.Trp204Arg) rs869312148
NM_000169.2(GLA):c.619T>C (p.Tyr207His) rs372416832
NM_000169.2(GLA):c.870G>C (p.Met290Ile) rs869312438
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.427G>A (p.Ala143Thr) rs104894845
NM_000169.3(GLA):c.640-801G>A rs199473684
NM_000169.3(GLA):c.714T>C (p.Ser238=) rs397515872
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000169.3(GLA):c.978G>A (p.Lys326=) rs151195362
NM_000179.2(MSH6):c.1508C>G (p.Ser503Cys) rs63750897
NM_000179.2(MSH6):c.1665A>G (p.Ala555=) rs146785465
NM_000179.2(MSH6):c.2418C>T (p.Ser806=) rs770992427
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
NM_000179.2(MSH6):c.3203G>A (p.Arg1068Gln) rs398123230
NM_000179.2(MSH6):c.3246G>A (p.Pro1082=) rs3136351
NM_000179.2(MSH6):c.3439-16C>T rs192614006
NM_000179.2(MSH6):c.3646+35_3646+38del rs1805181
NM_000179.2(MSH6):c.660A>C (p.Glu220Asp) rs1800938
NM_000179.2(MSH6):c.984C>T (p.Ser328=) rs138143769
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile) rs730881787
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.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala) rs564434147
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000180.3(GUCY2D):c.129_134delTCTGCT (p.Leu44_Leu45del) rs552184470
NM_000180.4(GUCY2D):c.1537C>T (p.Leu513Phe) rs61749682
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665
NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met) rs201414567
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902
NM_000180.4(GUCY2D):c.271G>C (p.Ala91Pro) rs573367793
NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg) rs9905402
NM_000182.5(HADHA):c.-1G>T rs72809666
NM_000182.5(HADHA):c.1212G>C (p.Val404=) rs116396996
NM_000182.5(HADHA):c.1981C>T (p.Leu661=) rs142348718
NM_000182.5(HADHA):c.2175C>T (p.Gly725=) rs375399631
NM_000183.3(HADHB):c.246A>G (p.Ala82=) rs151302743
NM_000186.3(CFH):c.2850G>T (p.Gln950His) rs149474608
NM_000186.3(CFH):c.3133+4C>G rs374729595
NM_000190.4(HMBS):c.962G>A (p.Arg321His) rs150428209
NM_000192.3(TBX5):c.331G>T (p.Asp111Tyr) rs77357563
NM_000192.3(TBX5):c.55G>T (p.Ala19Ser) rs200461617
NM_000192.3(TBX5):c.787G>A (p.Val263Met) rs147405081
NM_000192.3(TBX5):c.804C>G (p.Ala268=) rs35110399
NM_000193.4(SHH):c.1078C>T (p.Leu360=) rs191903572
NM_000193.4(SHH):c.570G>A (p.Ser190=) rs9333633
NM_000193.4(SHH):c.869G>A (p.Gly290Asp) rs104894047
NM_000193.4(SHH):c.876G>A (p.Gly292=) rs112055654
NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter) rs137852494
NM_000194.2(HPRT1):c.211G>C (p.Gly71Arg) rs137852488
NM_000195.5(HPS1):c.*12C>T rs112544050
NM_000195.5(HPS1):c.1438G>A (p.Ala480Thr) rs17109853
NM_000195.5(HPS1):c.1585A>G (p.Ile529Val) rs569192835
NM_000195.5(HPS1):c.198G>A (p.Ser66=) rs115265574
NM_000195.5(HPS1):c.700C>T (p.Leu234=) rs150444975
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000202.8(IDS):c.104A>G (p.Asp35Gly) rs144081417
NM_000202.8(IDS):c.123C>G (p.Leu41=) rs146904022
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) rs145807417
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801
NM_000203.5(IDUA):c.1230C>G (p.Thr410=) rs115790973
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298
NM_000203.5(IDUA):c.296C>T (p.Thr99Ile) rs147490060
NM_000203.5(IDUA):c.299+6C>T rs147498923
NM_000208.4(INSR):c.1080C>T (p.Cys360=) rs56066516
NM_000208.4(INSR):c.1179G>A (p.Gly393=) rs140573575
NM_000208.4(INSR):c.151G>A (p.Glu51Lys) rs140852238
NM_000208.4(INSR):c.1665T>C (p.Ser555=) rs149795690
NM_000208.4(INSR):c.190T>C (p.Leu64=) rs144836032
NM_000208.4(INSR):c.2193G>A (p.Thr731=) rs6413501
NM_000208.4(INSR):c.2256C>G (p.Ala752=) rs376497490
NM_000208.4(INSR):c.2295C>T (p.Gly765=) rs142654992
NM_000208.4(INSR):c.2736G>A (p.Arg912=) rs147125937
NM_000208.4(INSR):c.2838C>G (p.Asp946Glu) rs146588336
NM_000208.4(INSR):c.2970G>A (p.Pro990=) rs41304772
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816
NM_000208.4(INSR):c.3165G>A (p.Ala1055=) rs201445608
NM_000208.4(INSR):c.959C>T (p.Thr320Met) rs138528064
NM_000209.4(PDX1):c.336C>G (p.Pro112=) rs149275902
NM_000209.4(PDX1):c.543C>T (p.Val181=) rs75498935
NM_000213.5(ITGB4):c.4008C>T (p.Asp1336=) rs61735288
NM_000214.3(JAG1):c.1043G>A (p.Arg348Lys) rs200227737
NM_000214.3(JAG1):c.1146C>T (p.Asn382=) rs200133928
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) rs1801139
NM_000214.3(JAG1):c.1628G>A (p.Arg543His) rs544877858
NM_000214.3(JAG1):c.1655C>T (p.Pro552Leu) rs201785359
NM_000214.3(JAG1):c.1755C>T (p.Asn585=) rs142808131
NM_000214.3(JAG1):c.1806C>T (p.His602=) rs764290237
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu) rs199505265
NM_000214.3(JAG1):c.1866G>A (p.Thr622=) rs140624746
NM_000214.3(JAG1):c.1920C>T (p.Asn640=) rs372121353
NM_000214.3(JAG1):c.2043G>A (p.Thr681=) rs151291264
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756
NM_000214.3(JAG1):c.2286C>T (p.Asn762=) rs144190443
NM_000214.3(JAG1):c.2298T>C (p.Phe766=) rs771544217
NM_000214.3(JAG1):c.2304C>T (p.Cys768=) rs755427292
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser) rs202063628
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196
NM_000214.3(JAG1):c.2917-7G>A rs201573066
NM_000214.3(JAG1):c.294C>T (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.3153C>T (p.Ala1051=) rs754593633
NM_000214.3(JAG1):c.3329A>C (p.Asn1110Thr) rs150811951
NM_000214.3(JAG1):c.3343G>A (p.Val1115Met) rs148373907
NM_000214.3(JAG1):c.3507G>C (p.Arg1169=) rs138452567
NM_000214.3(JAG1):c.3521C>T (p.Pro1174Leu) rs775363555
NM_000214.3(JAG1):c.3651C>T (p.Ile1217=) rs542831744
NM_000214.3(JAG1):c.388-4G>C rs567027490
NM_000214.3(JAG1):c.399G>A (p.Thr133=) rs763154396
NM_000214.3(JAG1):c.526G>A (p.Val176Ile) rs199674138
NM_000214.3(JAG1):c.601C>T (p.Arg201Cys) rs794727618
NM_000214.3(JAG1):c.82G>C (p.Val28Leu) rs142855305
NM_000214.3(JAG1):c.894T>C (p.Asn298=) rs149897344
NM_000214.3(JAG1):c.909T>C (p.His303=) rs139574260
NM_000217.3(KCNA1):c.1327C>G (p.Arg443Gly) rs150849316
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=) rs4766309
NM_000217.3(KCNA1):c.611G>A (p.Arg204His) rs2229000
NM_000218.2(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000218.2(KCNQ1):c.386+14C>T rs370023636
NM_000218.3(KCNQ1):c.-5T>C rs532941548
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.1942G>A (p.Val648Ile) rs34150427
NM_000218.3(KCNQ1):c.447C>T (p.Ala149=) rs146436765
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000219.6(KCNE1):c.30G>A (p.Thr10=) rs187686559
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510
NM_000230.3(LEP):c.21C>T (p.Cys7=) rs201523305
NM_000231.2(SGCG):c.-6T>C rs141771521
NM_000231.2(SGCG):c.1-8C>T rs745599370
NM_000231.2(SGCG):c.102C>T (p.Arg34=) rs140810408
NM_000231.2(SGCG):c.267A>G (p.Pro89=) rs149595403
NM_000231.2(SGCG):c.414A>G (p.Gln138=) rs770596449
NM_000231.2(SGCG):c.506-7T>G rs774582375
NM_000231.2(SGCG):c.507G>T (p.Gly169=) rs199905729
NM_000231.2(SGCG):c.579-21_579-20del rs769893030
NM_000231.2(SGCG):c.581T>C (p.Leu194Ser) rs547818652
NM_000231.2(SGCG):c.832G>A (p.Gly278Ser) rs147820869
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_000232.4(SGCB):c.31C>T (p.Gln11Ter) rs752492870
NM_000232.4(SGCB):c.498C>T (p.Ile166=) rs748602445
NM_000232.4(SGCB):c.768C>T (p.Ile256=) rs149121189
NM_000232.4(SGCB):c.799C>T (p.Arg267Cys) rs200761715
NM_000232.4(SGCB):c.92G>T (p.Ser31Ile) rs115928999
NM_000232.4(SGCB):c.943G>A (p.Gly315Arg) rs150395645
NM_000232.4(SGCB):c.9_14dup (p.Ala8_Ala9dup) rs886044103
NM_000232.5(SGCB):c.341C>T rs150518260
NM_000233.4(LHCGR):c.1360G>A (p.Val454Ile) rs114320052
NM_000233.4(LHCGR):c.1797C>A (p.Ile599=) rs143697410
NM_000235.4(LIPA):c.1113A>G (p.Glu371=) rs116827211
NM_000235.4(LIPA):c.1128C>T (p.Asp376=) rs200420117
NM_000235.4(LIPA):c.714G>A (p.Ala238=) rs139282720
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu) rs147493628
NM_000235.4(LIPA):c.756A>C (p.Ile252=) rs145037134
NM_000237.3(LPL):c.106G>A (p.Asp36Asn) rs1801177
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) rs143011005
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=) rs200799870
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114
NM_000240.3(MAOA):c.1410T>C (p.Asp470=) rs1137070
NM_000240.3(MAOA):c.385A>C (p.Arg129=) rs1800464
NM_000240.3(MAOA):c.825G>A (p.Pro275=) rs138703731
NM_000240.3(MAOA):c.891G>T (p.Arg297=) rs6323
NM_000243.2(MEFV):c.1587+33C>G rs146820856
NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr) rs11466045
NM_000243.2(MEFV):c.1958G>A (p.Arg653His) rs104895085
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.2230G>T rs61732874
NM_000243.2(MEFV):c.306T>C (p.Asp102=) rs224225
NM_000243.2(MEFV):c.333G>A (p.Gly111=) rs61732425
NM_000243.2(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000243.2(MEFV):c.495C>A (p.Ala165=) rs224223
NM_000243.2(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000243.2(MEFV):c.605G>A (p.Arg202Gln) rs224222
NM_000243.2(MEFV):c.932C>T (p.Ala311Val) rs74346519
NM_000243.2(MEFV):c.986G>A (p.Arg329His) rs104895112
NM_000243.3(MEFV):c.1105C>T rs11466023
NM_000243.3(MEFV):c.1223G>A rs11466024
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097
NM_000243.3(MEFV):c.329T>C rs11466018
NM_000243.3(MEFV):c.442G>C rs3743930
NM_000243.3(MEFV):c.585G>A rs200766991
NM_000244.3(MEN1):c.1311G>A (p.Leu437=) rs138770431
NM_000244.3(MEN1):c.1636G>A (p.Ala546Thr) rs2959656
NM_000245.4(MET):c.-14-4G>A rs144126521
NM_000245.4(MET):c.1019A>G (p.Asp340Gly) rs200690492
NM_000245.4(MET):c.1124A>G (p.Asn375Ser) rs33917957
NM_000245.4(MET):c.1932C>T (p.His644=) rs45520237
NM_000245.4(MET):c.2584-7del rs587780736
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569
NM_000245.4(MET):c.654G>A (p.Arg218=) rs35284565
NM_000245.4(MET):c.948A>G (p.Ile316Met) rs35225896
NM_000249.3(MLH1):c.1039-8del rs57509953
NM_000249.3(MLH1):c.1517T>C (p.Val506Ala) rs63749909
NM_000249.3(MLH1):c.1732-19T>A rs77120160
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000249.3(MLH1):c.222T>C (p.Asp74=) rs755073786
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980
NM_000249.4(MLH1):c.1668-19A>G rs9876116
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.2152C>T (p.His718Tyr) rs2020873
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977
NM_000251.2(MSH2):c.-9G>C rs547444746
NM_000251.2(MSH2):c.1275A>G (p.Glu425=) rs63751650
NM_000251.2(MSH2):c.1277-8T>C rs145400590
NM_000251.2(MSH2):c.1666T>C (p.Leu556=) rs61756466
NM_000251.2(MSH2):c.2400A>G (p.Leu800=) rs201298777
NM_000251.2(MSH2):c.557A>G (p.Asn186Ser) rs151129360
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe) rs17224367
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772
NM_000252.2(MTM1):c.1291G>A (p.Asp431Asn) rs886044782
NM_000252.3(MTM1):c.1260+3G>A rs222410
NM_000252.3(MTM1):c.1537_1564delinsAACTGGA (p.Phe513_Leu522delinsAsnTrpIle) rs398123271
NM_000253.3(MTTP):c.1715A>G (p.Asn572Ser) rs772602972
NM_000253.3(MTTP):c.2025C>T (p.Ile675=) rs79023226
NM_000253.3(MTTP):c.2433G>C (p.Leu811Phe) rs144590904
NM_000253.3(MTTP):c.2673C>T (p.Ser891=) rs115222767
NM_000253.3(MTTP):c.383T>C (p.Ile128Thr) rs3816873
NM_000253.3(MTTP):c.419A>G (p.Asn140Ser) rs61733140
NM_000253.3(MTTP):c.453T>C (p.Gly151=) rs991811
NM_000254.3(MTR):c.3518C>T rs121913578
NM_000255.4(MMUT):c.1084-10A>G rs777031588
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) rs115923556
NM_000255.4(MMUT):c.393G>A (p.Gln131=) rs145682249
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796
NM_000256.3(MYBPC3):c.246T>C (p.Ile82=) rs372502369
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470
NM_000256.3(MYBPC3):c.2737+5G>A rs398123280
NM_000256.3(MYBPC3):c.2833_2834del (p.Arg945fs) rs397515987
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112
NM_000256.3(MYBPC3):c.3279C>T (p.Gly1093=) rs36212064
NM_000257.4(MYH7):c.1000-7C>T rs200129563
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.1755C>T (p.Ile585=) rs201860580
NM_000257.4(MYH7):c.2052G>A (p.Met684Ile) rs727503262
NM_000257.4(MYH7):c.2162+4G>A rs145738465
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
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.2769C>T (p.Asn923=) rs36211716
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615
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.3153G>A (p.Ala1051=) rs45540831
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236
NM_000257.4(MYH7):c.4182C>T (p.Ala1394=) rs765895405
NM_000257.4(MYH7):c.4353+10G>A rs202205780
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=) rs61737803
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=) rs142034311
NM_000257.4(MYH7):c.4974C>T (p.Asp1658=) rs374289523
NM_000257.4(MYH7):c.5452C>T (p.Arg1818Trp) rs763073072
NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp) rs145734640
NM_000257.4(MYH7):c.5736C>T (p.Ile1912=) rs200728597
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu) rs397516260
NM_000257.4(MYH7):c.714C>T (p.Asn238=) rs202141819
NM_000258.3(MYL3):c.81T>C (p.Pro27=) rs147584015
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511
NM_000260.4(MYO7A):c.1209C>T (p.Tyr403=) rs782397746
NM_000260.4(MYO7A):c.1299C>T (p.Ile433=) rs782163200
NM_000260.4(MYO7A):c.1554+8G>A rs111033227
NM_000260.4(MYO7A):c.1854G>A (p.Leu618=) rs35429535
NM_000260.4(MYO7A):c.2025C>T (p.Arg675=) rs797044658
NM_000260.4(MYO7A):c.2088C>T (p.Tyr696=) rs781964494
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn) rs36090425
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.2558G>A (p.Arg853His) rs111033437
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) rs201489714
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606
NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg) rs60103800
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.3476G>T (p.Gly1159Val) rs199897298
NM_000260.4(MYO7A):c.3503+17G>A rs369969967
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966
NM_000260.4(MYO7A):c.3729G>A (p.Pro1243=) rs727504023
NM_000260.4(MYO7A):c.3750+7G>A rs397516305
NM_000260.4(MYO7A):c.3750+9G>A rs111033252
NM_000260.4(MYO7A):c.39C>A (p.Asp13Glu) rs199989979
NM_000260.4(MYO7A):c.4441+7C>T rs372493678
NM_000260.4(MYO7A):c.4544_4551delinsCA (p.Glu1515_Met1517delinsAla) rs111033259
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met) rs41298747
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.4992C>T (p.Thr1664=) rs181573957
NM_000260.4(MYO7A):c.5004C>T (p.Tyr1668=) rs1479835169
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.5169-6C>T rs768594224
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.5480+10G>A rs768513428
NM_000260.4(MYO7A):c.5598C>A (p.Leu1866=) rs111033504
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=) rs570316231
NM_000260.4(MYO7A):c.5866G>A (p.Val1956Ile) rs142293185
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.6614_6634dup (p.Met2205_Ser2211dup) rs111033388
NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr) rs201753022
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_000261.2(MYOC):c.227G>A (p.Arg76Lys) rs2234926
NM_000261.2(MYOC):c.366C>T (p.Gly122=) rs145354114
NM_000261.2(MYOC):c.855G>T (p.Thr285=) rs146606638
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577
NM_000263.4(NAGLU):c.701G>C (p.Arg234Pro) rs886042073
NM_000263.4(NAGLU):c.764+19C>G rs77738617
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592
NM_000264.5(PTCH1):c.-24_-22GGC[5] rs71366293
NM_000264.5(PTCH1):c.1913G>A (p.Arg638His) rs145766839
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564
NM_000266.4(NDP):c.11A>T (p.His4Leu) rs149708528
NM_000266.4(NDP):c.155T>A (p.Leu52Ter) rs886043097
NM_000271.5(NPC1):c.1232G>A (p.Arg411Gln) rs77080672
NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser) rs61731962
NM_000271.5(NPC1):c.180+8C>T rs778096289
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085
NM_000271.5(NPC1):c.2201G>T (p.Ser734Ile) rs757475924
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458
NM_000271.5(NPC1):c.2882A>G (p.Asn961Ser) rs34084984
NM_000271.5(NPC1):c.2974G>C (p.Gly992Arg) rs80358254
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe) rs34226296
NM_000271.5(NPC1):c.3393C>T (p.Ile1131=) rs777356809
NM_000271.5(NPC1):c.3557G>A (p.Arg1186His) rs200444084
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs) rs750323164
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744
NM_000271.5(NPC1):c.3614C>A (p.Thr1205Lys) rs758902805
NM_000271.5(NPC1):c.3734_3735del (p.Pro1245fs) rs1064794009
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899
NM_000271.5(NPC1):c.631+7A>G rs886044570
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026
NM_000271.5(NPC1):c.66A>G (p.Ser22=) rs144415945
NM_000271.5(NPC1):c.688_693del (p.Ser230_Val231del) rs758687942
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251
NM_000272.4(NPHP1):c.1035A>G (p.Gln345=) rs371112962
NM_000272.4(NPHP1):c.115C>A (p.Pro39Thr) rs33958626
NM_000272.4(NPHP1):c.133A>C (p.Ile45Leu) rs145479679
NM_000272.4(NPHP1):c.2081A>G (p.Gln694Arg) rs186950965
NM_000272.4(NPHP1):c.232T>C (p.Tyr78His) rs140446520
NM_000272.4(NPHP1):c.336G>A (p.Gly112=) rs144217506
NM_000272.4(NPHP1):c.654G>A (p.Glu218=) rs11675767
NM_000272.4(NPHP1):c.810C>T (p.Cys270=) rs73954628
NM_000272.4(NPHP1):c.829C>A (p.Arg277=) rs367600757
NM_000272.4(NPHP1):c.940-17G>A rs146343637
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg) rs62635032
NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln) rs1800407
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu) rs121918167
NM_000275.3(OCA2):c.2293G>A (p.Ala765Thr) rs145968118
NM_000275.3(OCA2):c.45G>A (p.Pro15=) rs202091837
NM_000275.3(OCA2):c.574-19A>G rs145242923
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) rs183487020
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del) rs767489236
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp) rs1800401
NM_000276.4(OCRL):c.1498C>G (p.Arg500Gly) rs398123287
NM_000276.4(OCRL):c.39+10G>A rs765141317
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile) rs61752970
NM_000276.4(OCRL):c.439+3A>G rs61752971
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.1242C>T (p.Tyr414=) rs1801152
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968
NM_000277.3(PAH):c.169G>A (p.Glu57Lys) rs140945592
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679
NM_000277.3(PAH):c.520A>G (p.Ile174Val) rs199475632
NM_000277.3(PAH):c.707-7A>T rs62508624
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000278.5(PAX2):c.360C>T (p.Ala120=) rs41291450
NM_000280.4(PAX6):c.1137A>C (p.Thr379=) rs143477661
NM_000280.4(PAX6):c.622C>T (p.Arg208Trp) rs757259413
NM_000280.4(PAX6):c.990G>A (p.Pro330=) rs146261351
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359
NM_000283.3(PDE6B):c.1401+7_1401+8insA rs537010934
NM_000283.3(PDE6B):c.2344G>A (p.Val782Met) rs145124626
NM_000283.3(PDE6B):c.267C>T (p.Ala89=) rs147181781
NM_000283.3(PDE6B):c.655T>C (p.Tyr219His) rs62295357
NM_000283.3(PDE6B):c.794G>A (p.Arg265Gln) rs144562730
NM_000283.3(PDE6B):c.905G>A (p.Gly302Asp) rs146646008
NM_000283.3(PDE6B):c.928-9_940dup rs539992414
NM_000284.4(PDHA1):c.311T>C (p.Leu104Pro) rs794727621
NM_000284.4(PDHA1):c.507G>A (p.Ala169=) rs141862527
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565
NM_000285.4(PEPD):c.104G>A (p.Arg35Gln) rs200435937
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802
NM_000286.3(PEX12):c.451C>T (p.Arg151Cys) rs138731505
NM_000286.3(PEX12):c.681-2A>C rs187526749
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695
NM_000287.4(PEX6):c.2440C>T (p.Arg814Ter) rs267608241
NM_000287.4(PEX6):c.330C>G (p.Thr110=) rs140486558
NM_000287.4(PEX6):c.813G>T (p.Ala271=) rs35503676
NM_000288.4(PEX7):c.339+10A>C rs374668045
NM_000288.4(PEX7):c.339+10A>G rs374668045
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000288.4(PEX7):c.748-5del rs563675060
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter) rs10250779
NM_000291.4(PGK1):c.639C>T (p.Gly213=) rs797044505
NM_000292.3(PHKA2):c.1396G>A (p.Ala466Thr) rs144591812
NM_000292.3(PHKA2):c.742A>C (p.Arg248=) rs149219369
NM_000293.3(PHKB):c.1459-9G>T rs201995780
NM_000293.3(PHKB):c.2445T>C (p.Phe815=) rs61494991
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827
NM_000295.4(SERPINA1):c.1078G>A (p.Ala360Thr) rs1802959
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn) rs143370956
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del) rs775982338
NM_000295.5(SERPINA1):c.324C>T (p.Leu108=) rs1555369128
NM_000295.5(SERPINA1):c.450A>G (p.Leu150=) rs146596574
NM_000295.5(SERPINA1):c.646+1G>T rs751235320
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser) rs141620200
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896
NM_000297.4(PKD2):c.1549-4T>C rs374450718
NM_000297.4(PKD2):c.2411G>A (p.Ser804Asn) rs145343957
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup) rs750077647
NM_000297.4(PKD2):c.784G>A (p.Val262Met) rs138132026
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756
NM_000303.3(PMM2):c.323C>T (p.Ala108Val) rs200503569
NM_000303.3(PMM2):c.441C>G (p.Leu147=) rs146990448
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu) rs201556985
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760
NM_000304.4(PMP22):c.320-4C>T rs377467465
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.448G>T (p.Gly150Cys) rs104894624
NM_000306.4(POU1F1):c.252C>T (p.His84=) rs4988460
NM_000306.4(POU1F1):c.370A>G (p.Met124Val) rs143373007
NM_000306.4(POU1F1):c.605-5T>G rs201406891
NM_000306.4(POU1F1):c.666-5G>A rs76296626
NM_000310.3(PPT1):c.*6G>A rs113082671
NM_000310.3(PPT1):c.904A>G (p.Ile302Val) rs146902902
NM_000310.4(PPT1):c.363-4G>A rs117284255
NM_000314.7(PTEN):c.132C>T (p.Gly44=) rs150651961
NM_000314.7(PTEN):c.395G>A (p.Gly132Asp) rs121909241
NM_000314.7(PTEN):c.720C>T (p.Tyr240=) rs190070312
NM_000314.8(PTEN):c.165-24TTTG[2] rs786204877
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.80-1_80del rs1554893747
NM_000316.3(PTH1R):c.313+4C>T rs200207404
NM_000316.3(PTH1R):c.448C>T (p.Arg150Cys) rs121434601
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys) rs35689779
NM_000318.3(PEX2):c.310dup (p.Ile104fs) rs1235008965
NM_000318.3(PEX2):c.624dup (p.Pro209fs) rs1438831421
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936
NM_000321.2(RB1):c.1966C>T (p.Arg656Trp) rs142509759
NM_000321.2(RB1):c.2212-16T>A rs201258424
NM_000321.2(RB1):c.380+10C>G rs187110786
NM_000321.2(RB1):c.380+12T>C rs3092881
NM_000321.2(RB1):c.45_53del (p.Ala16_Ala18del) rs572454921
NM_000321.3(RB1):c.1961-12T>C rs201697122
NM_000321.3(RB1):c.1981C>T rs137853294
NM_000321.3(RB1):c.929G>A (p.Gly310Glu) rs200844292
NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly) rs434102
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp) rs563581127
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=) rs61755813
NM_000322.5(PRPH2):c.888C>T (p.Pro296=) rs183714869
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu) rs61748434
NM_000325.6(PITX2):c.206-9C>T rs367757020
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) rs77144743
NM_000325.6(PITX2):c.639A>T (p.Ser213=) rs141176394
NM_000325.6(PITX2):c.819G>A (p.Pro273=) rs148191851
NM_000326.5(RLBP1):c.141+6G>A rs181321141
NM_000326.5(RLBP1):c.29T>A (p.Met10Lys) rs77384282
NM_000326.5(RLBP1):c.303C>T (p.Arg101=) rs144254383
NM_000326.5(RLBP1):c.346+3_346+8del rs56307321
NM_000326.5(RLBP1):c.817C>T (p.Leu273Phe) rs140570189
NM_000327.3(ROM1):c.47G>A (p.Arg16His) rs143166696
NM_000327.3(ROM1):c.81G>T (p.Leu27=) rs148196509
NM_000327.3(ROM1):c.868del (p.Gln290fs) rs548233813
NM_000328.3(RPGR):c.1145A>T (p.Asp382Val) rs757714144
NM_000328.3(RPGR):c.141T>G (p.Ser47=) rs62638631
NM_000328.3(RPGR):c.223A>G (p.Ile75Val) rs111631988
NM_000328.3(RPGR):c.732G>A (p.Lys244=) rs62638654
NM_000328.3(RPGR):c.785C>G (p.Ala262Gly) rs138018739
NM_000329.3(RPE65):c.94+10G>A rs777879312
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=) rs16947296
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884
NM_000334.4(SCN4A):c.2478C>T (p.Ile826=) rs371914255
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682
NM_000334.4(SCN4A):c.2748C>G (p.Asn916Lys) rs115379510
NM_000334.4(SCN4A):c.3205G>A (p.Asp1069Asn) rs373150395
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192
NM_000334.4(SCN4A):c.483-5C>G rs191547933
NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=) rs189230866
NM_000334.4(SCN4A):c.963C>T (p.Asn321=) rs748863960
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952
NM_000335.4(SCN5A):c.1714_1715delinsTT (p.Ala572Phe) rs730880211
NM_000335.4(SCN5A):c.3919C>T (p.Leu1307Phe) rs41313031
NM_000335.4(SCN5A):c.694G>A (p.Val232Ile) rs45471994
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230
NM_000335.5(SCN5A):c.1734C>T (p.Pro578=) rs200868190
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.3259G>A (p.Ala1087Thr) rs369704754
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=) rs45548237
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=) rs45489099
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117
NM_000336.3(SCNN1B):c.1731C>T (p.Thr577=) rs61759923
NM_000336.3(SCNN1B):c.1782G>A (p.Thr594=) rs13306628
NM_000337.5(SGCD):c.*2A>C rs200757725
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.15G>C (p.Glu5Asp) rs549319429
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.394G>A (p.Val132Ile) rs367819390
NM_000337.5(SGCD):c.402T>C (p.Ala134=) rs190935424
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.510G>A (p.Glu170=) rs368838376
NM_000337.5(SGCD):c.543T>G (p.Pro181=) rs200451694
NM_000337.5(SGCD):c.699+13_699+15del rs397517924
NM_000337.5(SGCD):c.69C>T (p.Tyr23=) rs397517923
NM_000337.5(SGCD):c.768G>A (p.Thr256=) rs376141942
NM_000337.5(SGCD):c.793G>A (p.Val265Ile) rs772185467
NM_000338.3(SLC12A1):c.1089A>G (p.Ala363=) rs142646329
NM_000346.4(SOX9):c.531G>A (p.Arg177=) rs144824678
NM_000346.4(SOX9):c.685+7C>T rs370951695
NM_000346.4(SOX9):c.685+8G>A rs117696751
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.3(ABCA4):c.1015T>G (p.Trp339Gly) rs61751420
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=) rs145483148
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549
NM_000350.3(ABCA4):c.1253T>C (p.Phe418Ser) rs794726979
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831
NM_000350.3(ABCA4):c.1269C>T (p.His423=) rs4147831
NM_000350.3(ABCA4):c.1343T>A (p.Met448Lys) rs777078540
NM_000350.3(ABCA4):c.1356+5_1356+6insC rs1553193877
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.3(ABCA4):c.1653G>A (p.Val551=) rs61753963
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) rs145525174
NM_000350.3(ABCA4):c.1699G>A (p.Val567Met) rs74516571
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met) rs61749417
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024
NM_000350.3(ABCA4):c.1932C>T (p.Asp644=) rs117400594
NM_000350.3(ABCA4):c.2023G>A (p.Val675Ile) rs575453437
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581
NM_000350.3(ABCA4):c.2966T>C (p.Val989Ala) rs61749454
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.3(ABCA4):c.3468C>T (p.Tyr1156=) rs113698006
NM_000350.3(ABCA4):c.3576C>T (p.Val1192=) rs187965758
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu) rs146786552
NM_000350.3(ABCA4):c.3626T>C (p.Met1209Thr) rs76258939
NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=) rs147884766
NM_000350.3(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129
NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130
NM_000350.3(ABCA4):c.4203C>T (p.Pro1401=) rs1801666
NM_000350.3(ABCA4):c.4222T>C (p.Trp1408Arg) rs61750135
NM_000350.3(ABCA4):c.4283C>T (p.Thr1428Met) rs1800549
NM_000350.3(ABCA4):c.428C>T (p.Pro143Leu) rs62646860
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060
NM_000350.3(ABCA4):c.4342G>A (p.Gly1448Arg) rs142506651
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg) rs758835368
NM_000350.3(ABCA4):c.4401C>T (p.Ser1467=) rs188775667
NM_000350.3(ABCA4):c.4538A>G (p.Gln1513Arg) rs281865402
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862
NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) rs62642574
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=) rs138475920
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943
NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) rs61751404
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met) rs61753019
NM_000350.3(ABCA4):c.5312+8G>A rs187953772
NM_000350.3(ABCA4):c.5461-10T>C rs1800728
NM_000350.3(ABCA4):c.5549T>C (p.Leu1850Pro) rs377311148
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552
NM_000350.3(ABCA4):c.5836-11G>A rs1800739
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029
NM_000350.3(ABCA4):c.5880C>T (p.Val1960=) rs746250336
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473
NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn) rs1553186514
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=) rs1801359
NM_000350.3(ABCA4):c.6282+7G>A rs17110761
NM_000350.3(ABCA4):c.6286G>A (p.Glu2096Lys) rs61750646
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652
NM_000350.3(ABCA4):c.768G>T (p.Val256=) rs62645944
NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu) rs190540405
NM_000352.6(ABCC8):c.1874C>T (p.Ala625Val) rs148709148
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=) rs1799858
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) rs111967655
NM_000352.6(ABCC8):c.279C>A (p.Ile93=) rs550990673
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=) rs1799859
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406
NM_000356.4(TCOF1):c.2014C>T (p.Pro672Ser) rs73270846
NM_000356.4(TCOF1):c.3478G>A (p.Ala1160Thr) rs137960641
NM_000356.4(TCOF1):c.640-1981_640-1964del rs528897827
NM_000356.4(TCOF1):c.797G>A (p.Ser266Asn) rs144327167
NM_000356.4(TCOF1):c.803A>G (p.Glu268Gly) rs150637771
NM_000356.4(TCOF1):c.998C>T (p.Ser333Leu) rs114326915
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471
NM_000360.4(TH):c.342G>A (p.Glu114=) rs886038763
NM_000360.4(TH):c.684G>A (p.Glu228=) rs11564716
NM_000363.5(TNNI3):c.12-7del rs370714315
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401
NM_000363.5(TNNI3):c.273G>A (p.Ala91=) rs75491697
NM_000363.5(TNNI3):c.550-10C>T rs201240150
NM_000367.4(TPMT):c.460G>A (p.Ala154Thr) rs1800460
NM_000367.4(TPMT):c.719A>G (p.Tyr240Cys) rs1142345
NM_000368.4(TSC1):c.-7C>T rs62621221
NM_000368.4(TSC1):c.1079C>A (p.Thr360Asn) rs118203493
NM_000368.4(TSC1):c.1084C>T (p.Pro362Ser) rs397514864
NM_000368.4(TSC1):c.1163T>C (p.Leu388Pro) rs377598226
NM_000368.4(TSC1):c.1218C>T (p.Tyr406=) rs373465241
NM_000368.4(TSC1):c.1276G>T (p.Asp426Tyr) rs765695557
NM_000368.4(TSC1):c.1460C>G (p.Ser487Cys) rs118203532
NM_000368.4(TSC1):c.1775C>T (p.Thr592Met) rs775869914
NM_000368.4(TSC1):c.1921C>T (p.Pro641Ser) rs374222196
NM_000368.4(TSC1):c.1977G>A (p.Ala659=) rs35958226
NM_000368.4(TSC1):c.201A>G (p.Pro67=) rs371555137
NM_000368.4(TSC1):c.2115G>A (p.Glu705=) rs142662480
NM_000368.4(TSC1):c.250G>A (p.Ala84Thr) rs118203357
NM_000368.4(TSC1):c.2932C>G (p.Leu978Val) rs397514859
NM_000368.4(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742
NM_000368.4(TSC1):c.3387C>T (p.Ala1129=) rs200200869
NM_000368.4(TSC1):c.346T>G (p.Leu116Val) rs199620268
NM_000368.4(TSC1):c.532G>A (p.Val178Ile) rs118203395
NM_000368.4(TSC1):c.615T>C (p.Ser205=) rs118203414
NM_000368.4(TSC1):c.618T>C (p.His206=) rs118203415
NM_000368.4(TSC1):c.737G>A (p.Arg246Lys) rs118203436
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.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.3324C>T rs35593170
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123
NM_000371.3(TTR):c.336+19G>A rs75517067
NM_000371.3(TTR):c.384C>T (p.Ala128=) rs143906738
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.5(TYR):c.1336G>A (p.Gly446Ser) rs104894317
NM_000372.5(TYR):c.230G>A (p.Arg77Gln) rs61753185
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602
NM_000373.4(UMPS):c.126C>A (p.Gly42=) rs143828400
NM_000377.2(WAS):c.538C>A (p.His180Asn) rs145040665
NM_000377.2(WAS):c.995T>C (p.Val332Ala) rs2737799
NM_000381.4(MID1):c.1230C>T (p.Ser410=) rs16986145
NM_000381.4(MID1):c.1266C>T (p.Thr422=) rs148477118
NM_000381.4(MID1):c.1489C>T (p.Leu497=) rs138629923
NM_000381.4(MID1):c.1698A>G (p.Glu566=) rs34554583
NM_000381.4(MID1):c.1988C>T (p.Thr663Ile) rs138558359
NM_000381.4(MID1):c.588C>G (p.Ala196=) rs41303167
NM_000381.4(MID1):c.661-22_661-21dup rs375668839
NM_000381.4(MID1):c.661-8_661-7del rs375668839
NM_000382.3(ALDH3A2):c.1108-3C>T rs148944691
NM_000382.3(ALDH3A2):c.1267C>T (p.Arg423Cys) rs370654268
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser) rs61737992
NM_000383.4(AIRE):c.1095+6G>A rs1800525
NM_000383.4(AIRE):c.1567-5C>T rs192215705
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg) rs1800520
NM_000384.3(APOB):c.12940A>G (p.Ile4314Val)
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843
NM_000388.4(CASR):c.1285C>T (p.His429Tyr) rs142818334
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894
NM_000388.4(CASR):c.2064C>T (p.Phe688=) rs150869744
NM_000388.4(CASR):c.2730C>A (p.Pro910=) rs34200949
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725
NM_000388.4(CASR):c.60C>T (p.Tyr20=) rs201564143
NM_000388.4(CASR):c.6A>C (p.Ala2=) rs112042188
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092
NM_000390.4(CHM):c.1244+8T>A rs369829791
NM_000390.4(CHM):c.1771-8T>C rs912390081
NM_000390.4(CHM):c.957A>G (p.Thr319=) rs373242750
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155
NM_000391.4(TPP1):c.1266+5G>A rs1800753
NM_000391.4(TPP1):c.1497T>C (p.Pro499=) rs142672910
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576
NM_000391.4(TPP1):c.1552-9C>T rs369699167
NM_000391.4(TPP1):c.1653C>G (p.Pro551=) rs372564255
NM_000391.4(TPP1):c.244C>T (p.Leu82=) rs794727623
NM_000391.4(TPP1):c.293C>T (p.Thr98Met) rs140726254
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746
NM_000391.4(TPP1):c.381-10dup rs146315473
NM_000391.4(TPP1):c.542C>T (p.Ser181Phe) rs139059149
NM_000391.4(TPP1):c.687+20C>T rs569432039
NM_000391.4(TPP1):c.6A>T (p.Gly2=) rs747594496
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp) rs200138397
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036
NM_000391.4(TPP1):c.887-10A>G rs755445790
NM_000391.4(TPP1):c.887-18A>G rs935526225
NM_000392.5(ABCC2):c.1007C>T (p.Thr336Met) rs149854486
NM_000392.5(ABCC2):c.1032-3C>T rs139800035
NM_000392.5(ABCC2):c.2034C>T (p.Ser678=) rs1554850241
NM_000392.5(ABCC2):c.2073C>A (p.Val691=) rs17222624
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000392.5(ABCC2):c.2955G>A (p.Ala985=) rs139082536
NM_000392.5(ABCC2):c.306C>A (p.Thr102=) rs559908064
NM_000392.5(ABCC2):c.3107T>C (p.Ile1036Thr) rs45441199
NM_000392.5(ABCC2):c.3258+1G>A rs762243203
NM_000392.5(ABCC2):c.3492C>T (p.Ser1164=) rs144192700
NM_000392.5(ABCC2):c.3576C>G (p.Thr1192=) rs146575217
NM_000392.5(ABCC2):c.3614+6G>C rs17222716
NM_000392.5(ABCC2):c.3648C>A (p.Asn1216Lys) rs144967259
NM_000392.5(ABCC2):c.842G>A (p.Ser281Asn) rs56131651
NM_000392.5(ABCC2):c.998A>G (p.Asp333Gly) rs17222674
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=) rs140609193
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000
NM_000393.5(COL5A2):c.1455+6G>T rs113512079
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879
NM_000393.5(COL5A2):c.2103C>T (p.Pro701=) rs376612765
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=) rs35860166
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=) rs151027388
NM_000393.5(COL5A2):c.322+8T>C rs372227642
NM_000393.5(COL5A2):c.3471+8A>T rs367643805
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=) rs10197596
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501
NM_000393.5(COL5A2):c.870T>C (p.Pro290=) rs139656817
NM_000396.4(CTSK):c.541T>C (p.Tyr181His) rs868112062
NM_000396.4(CTSK):c.684C>T (p.Pro228=) rs142097792
NM_000399.5(EGR2):c.665T>C (p.Met222Thr) rs530614586
NM_000401.3(EXT2):c.1687G>A (p.Glu563Lys) rs148711133
NM_000401.3(EXT2):c.809C>T (p.Ser270Leu) rs139525250
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu) rs137852320
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg) rs137852317
NM_000402.4(G6PD):c.1466G>C (p.Arg489Pro) rs72554665
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu) rs72554665
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp) rs137852331
NM_000402.4(G6PD):c.632A>T (p.Asp211Val) rs5030872
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000402.4(G6PD):c.727G>T (p.Val243Leu) rs137852326
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) rs7637099
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp) rs35289681
NM_000404.4(GLB1):c.34T>C (p.Leu12=) rs7614776
NM_000407.4(GP1BB):c.399C>T (p.Ala133=) rs142352780
NM_000409.4(GUCA1A):c.152C>T (p.Ser51Leu) rs137931613
NM_000409.4(GUCA1A):c.526C>T (p.Leu176Phe) rs794727777
NM_000410.3(HFE):c.340+4T>C rs2071303
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_000414.4(HSD17B4):c.1210-11C>G rs779466683
NM_000414.4(HSD17B4):c.1210-8T>C rs34254740
NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val) rs28943590
NM_000414.4(HSD17B4):c.1317A>G (p.Val439=) rs771922933
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000414.4(HSD17B4):c.1528G>A (p.Asp510Asn) rs191468413
NM_000414.4(HSD17B4):c.1625G>A (p.Arg542Lys) rs546653967
NM_000414.4(HSD17B4):c.1767+8T>C rs190659146
NM_000414.4(HSD17B4):c.1855-9_1855-7del rs1440146478
NM_000414.4(HSD17B4):c.357C>A (p.Ile119=) rs374169186
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096
NM_000414.4(HSD17B4):c.666C>G (p.Val222=) rs150677536
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=) rs192301957
NM_000426.3(LAMA2):c.112+1G>A rs398123367
NM_000426.3(LAMA2):c.1580G>A (p.Cys527Tyr) rs121913574
NM_000426.3(LAMA2):c.1621A>G (p.Ser541Gly) rs141363186
NM_000426.3(LAMA2):c.1634T>A (p.Leu545Gln) rs118083923
NM_000426.3(LAMA2):c.1701C>T (p.Ile567=) rs111381107
NM_000426.3(LAMA2):c.1782+10C>T rs200030296
NM_000426.3(LAMA2):c.1798G>A (p.Gly600Arg) rs36044314
NM_000426.3(LAMA2):c.2037G>C (p.Ala679=) rs398123369
NM_000426.3(LAMA2):c.2049_2050delAG rs202247790
NM_000426.3(LAMA2):c.2115T>G (p.Leu705=) rs149753273
NM_000426.3(LAMA2):c.2304C>T (p.Asp768=) rs142126511
NM_000426.3(LAMA2):c.2382C>T (p.Gly794=) rs147744763
NM_000426.3(LAMA2):c.2462C>T (p.Thr821Met) rs117422805
NM_000426.3(LAMA2):c.2476C>T (p.Arg826Trp) rs118147866
NM_000426.3(LAMA2):c.255C>T (p.Ile85=) rs142083777
NM_000426.3(LAMA2):c.2584T>C (p.Cys862Arg) rs121913573
NM_000426.3(LAMA2):c.2736G>A (p.Ala912=) rs142671449
NM_000426.3(LAMA2):c.2756G>T (p.Arg919Leu) rs35277491
NM_000426.3(LAMA2):c.2993G>A (p.Arg998His) rs144946631
NM_000426.3(LAMA2):c.3556-15T>G rs17741922
NM_000426.3(LAMA2):c.3585A>G (p.Leu1195=) rs780444488
NM_000426.3(LAMA2):c.3645A>G (p.Pro1215=) rs794727396
NM_000426.3(LAMA2):c.411G>A (p.Ala137=) rs149347601
NM_000426.3(LAMA2):c.4437-5T>A rs41285288
NM_000426.3(LAMA2):c.4470C>T (p.Asp1490=) rs35089085
NM_000426.3(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184
NM_000426.3(LAMA2):c.4523+1G>A rs398123375
NM_000426.3(LAMA2):c.4750G>A (p.Gly1584Ser) rs117781224
NM_000426.3(LAMA2):c.4926A>G (p.Thr1642=) rs62421010
NM_000426.3(LAMA2):c.4935C>A (p.Thr1645=) rs35579821
NM_000426.3(LAMA2):c.4959+6G>T rs148060790
NM_000426.3(LAMA2):c.5072-6del rs398123376
NM_000426.3(LAMA2):c.5247C>T (p.Ala1749=) rs149951387
NM_000426.3(LAMA2):c.5469C>T (p.Ser1823=) rs753886576
NM_000426.3(LAMA2):c.5530C>A (p.Arg1844Ser) rs56173620
NM_000426.3(LAMA2):c.5562+5G>C rs771046502
NM_000426.3(LAMA2):c.5601T>G (p.Ser1867=) rs780368037
NM_000426.3(LAMA2):c.5633C>T (p.Ser1878Phe) rs139586720
NM_000426.3(LAMA2):c.5688C>T (p.His1896=) rs573779258
NM_000426.3(LAMA2):c.5969-4G>A rs566302197
NM_000426.3(LAMA2):c.6002G>A (p.Arg2001Lys) rs151009169
NM_000426.3(LAMA2):c.6150T>C (p.Asp2050=) rs114766691
NM_000426.3(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053
NM_000426.3(LAMA2):c.6345C>T (p.Pro2115=) rs200364660
NM_000426.3(LAMA2):c.6426T>C (p.Asn2142=) rs150730793
NM_000426.3(LAMA2):c.6429+8C>A rs199773264
NM_000426.3(LAMA2):c.6629T>C (p.Val2210Ala) rs78880369
NM_000426.3(LAMA2):c.6649G>A (p.Val2217Ile) rs147857398
NM_000426.3(LAMA2):c.6697G>A (p.Val2233Ile) rs150945378
NM_000426.3(LAMA2):c.675C>T (p.Ala225=) rs139665175
NM_000426.3(LAMA2):c.6786G>A (p.Ser2262=) rs398123382
NM_000426.3(LAMA2):c.7111T>G (p.Phe2371Val) rs150644209
NM_000426.3(LAMA2):c.7300+10T>A rs200469923
NM_000426.3(LAMA2):c.7395T>C (p.Asp2465=) rs140483001
NM_000426.3(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843
NM_000426.3(LAMA2):c.7440-9G>A rs369558532
NM_000426.3(LAMA2):c.7965C>A (p.Ile2655=) rs141101234
NM_000426.3(LAMA2):c.8124T>A (p.Gly2708=) rs34997144
NM_000426.3(LAMA2):c.8211A>C (p.Pro2737=) rs369596190
NM_000426.3(LAMA2):c.8548-10T>C rs113644365
NM_000426.3(LAMA2):c.8692A>C (p.Arg2898=) rs200718262
NM_000426.3(LAMA2):c.8728G>A (p.Val2910Ile) rs141479751
NM_000426.3(LAMA2):c.8755C>T (p.Pro2919Ser) rs143026295
NM_000426.3(LAMA2):c.8842G>A (p.Gly2948Ser) rs143638361
NM_000426.3(LAMA2):c.8918C>T (p.Thr2973Met) rs145842163
NM_000426.3(LAMA2):c.8982T>C (p.Asp2994=) rs79374915
NM_000426.3(LAMA2):c.9211+6T>C rs201375881
NM_000426.3(LAMA2):c.9212-1G>A rs398123391
NM_000426.3(LAMA2):c.9340G>A (p.Val3114Ile) rs200796753
NM_000426.4(LAMA2):c.8282T>C (p.Ile2761Thr) rs115650537
NM_000428.3(LTBP2):c.4905G>C (p.Leu1635=) rs144520047
NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=) rs140936904
NM_000430.4(PAFAH1B1):c.780A>G (p.Val260=) rs150380620
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224
NM_000431.4(MVK):c.381G>A (p.Pro127=) rs140397628
NM_000431.4(MVK):c.441C>T (p.Ala147=) rs138342076
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258
NM_000433.3(NCF2):c.1256A>T (p.Asn419Ile) rs35012521
NM_000433.3(NCF2):c.563G>A (p.Arg188Lys) rs115365142
NM_000434.4(NEU1):c.649G>A (p.Val217Met) rs28940583
NM_000435.3(NOTCH3):c.3569G>A (p.Arg1190His) rs372241697
NM_000436.4(OXCT1):c.112C>T (p.Arg38Cys) rs76956231
NM_000436.4(OXCT1):c.1491C>T (p.Asp497=) rs144283422
NM_000436.4(OXCT1):c.480G>T (p.Gly160=) rs78432029
NM_000439.5(PCSK1):c.1993C>G (p.Gln665Glu) rs6234
NM_000439.5(PCSK1):c.2069G>C (p.Ser690Thr) rs6235
NM_000439.5(PCSK1):c.661A>G (p.Asn221Asp) rs6232
NM_000440.3(PDE6A):c.1086G>A (p.Ala362=) rs142259966
NM_000440.3(PDE6A):c.1476A>C (p.Gln492His) rs17711594
NM_000440.3(PDE6A):c.1620G>A (p.Glu540=) rs727504072
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys) rs139444207
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs) rs754012367
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000440.3(PDE6A):c.594G>A (p.Val198=) rs398123394
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968
NM_000440.3(PDE6A):c.908C>G (p.Ser303Cys) rs61733363
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.1233C>T (p.Ala411=) rs766572560
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) rs756969021
NM_000441.2(SLC26A4):c.1544+9C>T rs368970459
NM_000441.2(SLC26A4):c.1545-5T>G rs77944876
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) rs7811324
NM_000441.2(SLC26A4):c.1614+7A>G rs199643344
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=) rs111033193
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335
NM_000441.2(SLC26A4):c.1905G>A (p.Glu635=) rs541538556
NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro) rs397516423
NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met) rs143708308
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353
NM_000441.2(SLC26A4):c.2283A>G (p.Thr761=) rs202033028
NM_000441.2(SLC26A4):c.416-7T>C rs111033387
NM_000441.2(SLC26A4):c.565G>T (p.Ala189Ser) rs35045430
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454
NM_000443.4(ABCB4):c.1119+8A>C rs1471180323
NM_000443.4(ABCB4):c.1314G>A (p.Thr438=) rs45624933
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636
NM_000443.4(ABCB4):c.1893+6T>C rs8187798
NM_000443.4(ABCB4):c.201C>T (p.His67=) rs747703354
NM_000443.4(ABCB4):c.2325G>A (p.Thr775=) rs8187802
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His) rs752916287
NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=) rs2230029
NM_000443.4(ABCB4):c.3111T>C (p.Asn1037=) rs8187808
NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=) rs561612231
NM_000443.4(ABCB4):c.3381C>T (p.Ala1127=) rs766402494
NM_000443.4(ABCB4):c.3402C>T (p.Asp1134=) rs371394487
NM_000443.4(ABCB4):c.3411G>C (p.Arg1137=) rs771437431
NM_000443.4(ABCB4):c.3471C>T (p.Ile1157=) rs752578370
NM_000443.4(ABCB4):c.3486+8dup rs8187809
NM_000443.4(ABCB4):c.456G>A (p.Lys152=) rs147333055
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559
NM_000443.4(ABCB4):c.525G>A (p.Thr175=) rs558416191
NM_000443.4(ABCB4):c.696C>T (p.Ala232=) rs8187791
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778
NM_000444.6(PHEX):c.*231A>G rs946863800
NM_000444.6(PHEX):c.1344C>T (p.Asp448=) rs144911719
NM_000444.6(PHEX):c.1368G>C (p.Trp456Cys) rs886043680
NM_000444.6(PHEX):c.1586+3_1586+6del rs886042234
NM_000444.6(PHEX):c.903C>T (p.Asn301=) rs142755818
NM_000445.5(PLEC):c.133G>A (p.Gly45Ser) rs201820569
NM_000451.3(SHOX):c.-55C>T rs772910213
NM_000451.3(SHOX):c.144G>A (p.Glu48=) rs750638027
NM_000451.3(SHOX):c.63C>T (p.Gly21=) rs142306835
NM_000451.3(SHOX):c.702G>A (p.Ala234=) rs576542942
NM_000451.3(SHOX):c.864G>A (p.Glu288=) rs781656634
NM_000451.3(SHOX):c.870G>A (p.Leu290=) rs746391025
NM_000452.2(SLC10A2):c.586-4dup rs199940758
NM_000452.3(SLC10A2):c.108G>A (p.Thr36=) rs141524545
NM_000452.3(SLC10A2):c.132G>C (p.Leu44Phe) rs199553519
NM_000452.3(SLC10A2):c.175C>T (p.Leu59=) rs150970825
NM_000452.3(SLC10A2):c.194C>T (p.Pro65Leu) rs112657170
NM_000452.3(SLC10A2):c.516C>T (p.Leu172=) rs114146899
NM_000452.3(SLC10A2):c.762-3T>C rs190734512
NM_000452.3(SLC10A2):c.868C>T (p.Pro290Ser) rs56398830
NM_000452.3(SLC10A2):c.910T>C (p.Phe304Leu) rs61966074
NM_000455.4(STK11):c.357C>T (p.Asn119=) rs372511774
NM_000455.4(STK11):c.464+9G>A rs376313955
NM_000455.4(STK11):c.579C>T (p.Ser193=) rs730881961
NM_000455.4(STK11):c.580G>A (p.Asp194Asn) rs121913315
NM_000455.4(STK11):c.825G>A (p.Pro275=) rs202011521
NM_000455.4(STK11):c.920+7G>C rs2075607
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=) rs140781855
NM_000458.4(HNF1B):c.1594A>G (p.Met532Val) rs141193981
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
NM_000458.4(HNF1B):c.657C>T (p.Ser219=) rs148713761
NM_000458.4(HNF1B):c.750C>T (p.Tyr250=) rs144249535
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
NM_000458.4(HNF1B):c.951C>G (p.Ala317=) rs145750370
NM_000460.4(THPO):c.639T>A (p.Thr213=) rs1042348
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg) rs34969857
NM_000466.3(PEX1):c.-53C>G rs12386703
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp) rs73404416
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544
NM_000466.3(PEX1):c.2268A>G (p.Lys756=) rs1434174453
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe) rs142838522
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter) rs61750418
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946
NM_000466.3(PEX1):c.2868T>A (p.Val956=) rs200663477
NM_000466.3(PEX1):c.2926+1G>A rs267608179
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598
NM_000466.3(PEX1):c.3208-1G>A rs1057517518
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=) rs140963147
NM_000466.3(PEX1):c.330C>G (p.Pro110=) rs71560821
NM_000466.3(PEX1):c.3633T>C (p.Ser1211=) rs753334806
NM_000466.3(PEX1):c.473-3C>T rs150576000
NM_000466.3(PEX1):c.637C>T (p.Leu213Phe) rs141798874
NM_000478.6(ALPL):c.1002C>T (p.Gly334=) rs370122334
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014
NM_000478.6(ALPL):c.398C>G (p.Ala133Gly) rs184095519
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) rs199590449
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007
NM_000478.6(ALPL):c.612C>T (p.Ile204=) rs141448778
NM_000478.6(ALPL):c.818C>T (p.Thr273Met) rs148405563
NM_000478.6(ALPL):c.921G>A (p.Pro307=) rs1553414111
NM_000480.3(AMPD3):c.958G>T (p.Val320Leu) rs117706710
NM_000486.5(AQP2):c.763C>T (p.Gln255Ter) rs370879515
NM_000487.6(ARSA):c.*96A>G rs6151429
NM_000487.6(ARSA):c.1002C>T (p.Ser334=) rs147027229
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421
NM_000487.6(ARSA):c.1149C>T (p.Asp383=) rs6151425
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) rs74315455
NM_000487.6(ARSA):c.636C>T (p.Ala212=) rs200182983
NM_000487.6(ARSA):c.930C>T (p.Gly310=) rs767751622
NM_000489.5(ATRX):c.1868A>G (p.Lys623Arg) rs145678415
NM_000489.5(ATRX):c.2000C>T (p.Pro667Leu) rs61752457
NM_000489.5(ATRX):c.228G>A (p.Ser76=) rs5959371
NM_000489.5(ATRX):c.2785= (p.Glu929=) rs3088074
NM_000489.5(ATRX):c.4120+4A>C rs200420513
NM_000489.5(ATRX):c.4130A>G (p.Glu1377Gly) rs782553301
NM_000489.5(ATRX):c.4239A>G (p.Glu1413=) rs141974120
NM_000489.5(ATRX):c.4659T>C (p.His1553=) rs25641
NM_000489.5(ATRX):c.4810-3T>C rs370596323
NM_000489.5(ATRX):c.570T>G (p.Pro190=) rs188831993
NM_000489.5(ATRX):c.5968T>A (p.Ser1990Thr) rs142180002
NM_000489.5(ATRX):c.736C>T (p.Arg246Cys) rs122445105
NM_000489.5(ATRX):c.846C>T (p.Ser282=) rs148015780
NM_000489.6(ATRX):c.4365GGA[4] (p.Glu1464del) rs398123423
NM_000489.6(ATRX):c.7366_7367del (p.Met2456fs) rs797044723
NM_000492.3(CFTR):c.*1043A>C rs10234329
NM_000492.3(CFTR):c.*2G>A rs150914702
NM_000492.3(CFTR):c.-461A>G rs185028612
NM_000492.3(CFTR):c.-812T>G rs181008242
NM_000492.3(CFTR):c.1001G>A (p.Arg334Gln) rs397508137
NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) rs121909021
NM_000492.3(CFTR):c.1054C>T (p.Arg352Trp) rs193922497
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.3(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000492.3(CFTR):c.1254T>C (p.Asn418=) rs62469440
NM_000492.3(CFTR):c.1312A>G (p.Thr438Ala) rs201434579
NM_000492.3(CFTR):c.1365G>A (p.Ala455=) rs79074685
NM_000492.3(CFTR):c.1365G>T (p.Ala455=) rs79074685
NM_000492.3(CFTR):c.1446T>A (p.Ile482=) rs914422460
NM_000492.3(CFTR):c.1516A>G (p.Ile506Val) rs1800091
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.164+12T>C rs121908790
NM_000492.3(CFTR):c.164+28A>G rs34010645
NM_000492.3(CFTR):c.1666A>G (p.Ile556Val) rs75789129
NM_000492.3(CFTR):c.1920T>C (p.Phe640=) rs145877746
NM_000492.3(CFTR):c.2055A>G (p.Gln685=) rs1457520634
NM_000492.3(CFTR):c.2173G>A (p.Glu725Lys) rs199791061
NM_000492.3(CFTR):c.221G>A (p.Arg74Gln) rs142540482
NM_000492.3(CFTR):c.2245C>T (p.Leu749=) rs151235408
NM_000492.3(CFTR):c.2421A>G (p.Ile807Met) rs1800103
NM_000492.3(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642
NM_000492.3(CFTR):c.2559T>C (p.Ile853=) rs1800104
NM_000492.3(CFTR):c.2620-15C>G rs139379077
NM_000492.3(CFTR):c.2620-26A>G rs201716473
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000492.3(CFTR):c.2736G>A (p.Ser912=) rs200901072
NM_000492.3(CFTR):c.2736G>C (p.Ser912=) rs200901072
NM_000492.3(CFTR):c.2769C>T (p.Ala923=) rs1800108
NM_000492.3(CFTR):c.2797A>G (p.Arg933Gly) rs397508436
NM_000492.3(CFTR):c.2855T>C (p.Met952Thr) rs142773283
NM_000492.3(CFTR):c.2856G>C (p.Met952Ile) rs151048781
NM_000492.3(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112
NM_000492.3(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758
NM_000492.3(CFTR):c.3181G>C (p.Gly1061Arg) rs142394380
NM_000492.3(CFTR):c.3200C>T (p.Ala1067Val) rs1800114
NM_000492.3(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110
NM_000492.3(CFTR):c.332C>T (p.Pro111Leu) rs140502196
NM_000492.3(CFTR):c.3468+2dup rs1554392800
NM_000492.3(CFTR):c.3469-17T>C rs199630678
NM_000492.3(CFTR):c.3469-20T>C rs373002889
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.3(CFTR):c.3558A>G (p.Gln1186=) rs1800121
NM_000492.3(CFTR):c.3564G>A (p.Ser1188=) rs146804928
NM_000492.3(CFTR):c.360G>A (p.Ala120=) rs1800077
NM_000492.3(CFTR):c.3717+40A>G rs397508595
NM_000492.3(CFTR):c.3718-24G>A rs374013084
NM_000492.3(CFTR):c.374T>C (p.Ile125Thr) rs141723617
NM_000492.3(CFTR):c.3852A>G (p.Lys1284=) rs547248892
NM_000492.3(CFTR):c.393T>C (p.Phe131=) rs1039221071
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4129G>C (p.Asp1377His) rs150683293
NM_000492.3(CFTR):c.4197C>G (p.Leu1399=) rs79688066
NM_000492.3(CFTR):c.4242+10T>C rs138642693
NM_000492.3(CFTR):c.4243-20A>G rs138025486
NM_000492.3(CFTR):c.4243-5C>T rs114402068
NM_000492.3(CFTR):c.4272C>T (p.Tyr1424=) rs1800135
NM_000492.3(CFTR):c.4296C>T (p.Asn1432=) rs761669740
NM_000492.3(CFTR):c.4357C>T (p.Arg1453Trp) rs4148725
NM_000492.3(CFTR):c.581G>T (p.Gly194Val) rs397508763
NM_000492.3(CFTR):c.650A>G (p.Glu217Gly) rs121909046
NM_000492.3(CFTR):c.663G>A (p.Ala221=) rs758147990
NM_000492.3(CFTR):c.744-33GATT[8] rs1805171
NM_000492.3(CFTR):c.853A>T (p.Ile285Phe) rs151073129
NM_000492.3(CFTR):c.870-7_870-5del rs759762840
NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) rs1800073
NM_000492.3(CFTR):c.935_937delTCT (p.Phe312del) rs121908768
NM_000492.3(CFTR):c.960A>G (p.Leu320=) rs56093012
NM_000492.4(CFTR):c.-4G>C rs369326781
NM_000492.4(CFTR):c.-8G>C rs1800501
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.4(CFTR):c.1210-11T>G rs73715573
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.4(CFTR):c.1367T>C rs193922500
NM_000492.4(CFTR):c.1408G>A (p.Val470Met) rs213950
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501
NM_000492.4(CFTR):c.1517T>C rs397508224
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn) rs121908755
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp) rs75527207
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202
NM_000492.4(CFTR):c.2562T>G (p.Thr854=) rs1042077
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414
NM_000492.4(CFTR):c.274-6T>C rs371315549
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr) rs121909020
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118
NM_000492.4(CFTR):c.3297C>A rs747754623
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) rs397508537
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
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.3846G>A (p.Trp1282Ter) rs77010898
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.4333G>A (p.Asp1445Asn) rs148783445
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=) rs1800136
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286
NM_000492.4(CFTR):c.489+3A>G rs377729736
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp) rs121908752
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492
NM_000497.3(CYP11B1):c.595+1G>A rs1264073726
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu) rs184649564
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del) rs781838239
NM_000501.4(ELN):c.1566T>A (p.Gly522=) rs61734584
NM_000501.4(ELN):c.470-10C>G rs200663056
NM_000503.6(EYA1):c.1699-8T>C rs201537030
NM_000503.6(EYA1):c.840C>A (p.Ile280=) rs55972891
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr) rs201504674
NM_000512.5(GALNS):c.1002+17C>T rs78494153
NM_000512.5(GALNS):c.1413C>T (p.Val471=) rs73251084
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe) rs151296605
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258
NM_000514.4(GDNF):c.138G>A (p.Ala46=) rs375385439
NM_000515.5(GH1):c.116C>T (p.Ala39Val) rs151263636
NM_000515.5(GH1):c.150C>A (p.Ala50=) rs61735359
NM_000515.5(GH1):c.152T>A (p.Phe51Tyr) rs61735357
NM_000515.5(GH1):c.15C>T (p.Ser5=) rs111957225
NM_000515.5(GH1):c.16C>A (p.Arg6=) rs140576665
NM_000515.5(GH1):c.363T>A (p.Ser121Arg) rs137882374
NM_000515.5(GH1):c.406G>A (p.Val136Ile) rs5388
NM_000515.5(GH1):c.7A>G (p.Thr3Ala) rs2001345
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000520.4(HEXA):c.745C>T (p.Arg249Trp) rs138058578
NM_000520.6(HEXA):c.1073+1G>A rs76173977
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502
NM_000520.6(HEXA):c.1527-6T>C rs199914308
NM_000520.6(HEXA):c.536A>G (p.His179Arg) rs747372270
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970
NM_000520.6(HEXA):c.759G>A (p.Val253=) rs117513345
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428
NM_000521.4(HEXB):c.115del (p.Val39fs) rs398123443
NM_000521.4(HEXB):c.1614-14C>A rs201448394
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) rs121907984
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe) rs147155126
NM_000521.4(HEXB):c.619A>G (p.Ile207Val) rs10805890
NM_000523.4(HOXD13):c.41C>T (p.Ala14Val) rs555136684
NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter) rs200750564
NM_000525.3(KCNJ11):c.678C>T (p.Pro226=) rs74162102
NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) rs5219
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser) rs35836657
NM_000528.4(MAN2B1):c.2267+3dup rs572289342
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=) rs148108322
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321
NM_000531.6(OTC):c.298+5G>C rs72554348
NM_000531.6(OTC):c.572T>G (p.Leu191Arg) rs72556297
NM_000532.5(PCCB):c.184-12G>T rs181283691
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106
NM_000533.5(PLP1):c.609T>C (p.Asp203=) rs1126707
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.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318
NM_000535.7(PMS2):c.2127C>T (p.Phe709=) rs199943748
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683
NM_000535.7(PMS2):c.353+9A>C rs139990791
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000539.3(RHO):c.360C>T (p.Gly120=) rs79765751
NM_000539.3(RHO):c.381C>G (p.Ser127=) rs146311684
NM_000539.3(RHO):c.480C>A (p.Thr160=) rs151063543
NM_000539.3(RHO):c.762CAT[2] (p.Ile256del) rs1553781360
NM_000540.2(RYR1):c.10032C>T (p.Pro3344=) rs376687300
NM_000540.2(RYR1):c.10097G>A (p.Arg3366His) rs137932199
NM_000540.2(RYR1):c.10119G>A (p.Val3373=) rs140689610
NM_000540.2(RYR1):c.10259+7G>A rs143752962
NM_000540.2(RYR1):c.10917G>A (p.Thr3639=) rs371952058
NM_000540.2(RYR1):c.10941C>G (p.His3647Gln) rs114351116
NM_000540.2(RYR1):c.11034+20G>T rs186460831
NM_000540.2(RYR1):c.11360-9T>A rs150187840
NM_000540.2(RYR1):c.11941C>T (p.His3981Tyr) rs148772854
NM_000540.2(RYR1):c.12083C>T (p.Ser4028Leu) rs794728696
NM_000540.2(RYR1):c.12283-7C>T rs143861818
NM_000540.2(RYR1):c.12499G>T (p.Glu4167Ter) rs772494345
NM_000540.2(RYR1):c.12847G>A (p.Glu4283Lys) rs794728692
NM_000540.2(RYR1):c.12879G>C (p.Ala4293=) rs193922854
NM_000540.2(RYR1):c.12881C>T (p.Thr4294Met) rs587784372
NM_000540.2(RYR1):c.12884C>T (p.Ala4295Val) rs193922855
NM_000540.2(RYR1):c.12956G>A (p.Arg4319Gln) rs539194350
NM_000540.2(RYR1):c.12990C>G (p.Thr4330=) rs184450380
NM_000540.2(RYR1):c.12990C>T (p.Thr4330=) rs184450380
NM_000540.2(RYR1):c.13350G>A (p.Gly4450=) rs748743312
NM_000540.2(RYR1):c.13369A>T (p.Met4457Leu) rs867851900
NM_000540.2(RYR1):c.13498G>A (p.Glu4500Lys) rs752192756
NM_000540.2(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023
NM_000540.2(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130
NM_000540.2(RYR1):c.13680T>C (p.Phe4560=) rs377664510
NM_000540.2(RYR1):c.14061G>A (p.Leu4687=) rs201629205
NM_000540.2(RYR1):c.14130-8C>G rs140808099
NM_000540.2(RYR1):c.14270G>A (p.Arg4757His) rs768360593
NM_000540.2(RYR1):c.14344G>A (p.Gly4782Arg) rs746538672
NM_000540.2(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.2(RYR1):c.14505G>A (p.Gly4835=) rs118126378
NM_000540.2(RYR1):c.14524G>A rs193922879
NM_000540.2(RYR1):c.1453A>G (p.Met485Val) rs147723844
NM_000540.2(RYR1):c.14555A>G (p.Tyr4852Cys) rs886042826
NM_000540.2(RYR1):c.14589C>T (p.Phe4863=) rs146072491
NM_000540.2(RYR1):c.14672G>A (p.Gly4891Asp) rs398123470
NM_000540.2(RYR1):c.14817C>T (p.Asp4939=) rs193922895
NM_000540.2(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158
NM_000540.2(RYR1):c.2091C>T (p.Ala697=) rs138704724
NM_000540.2(RYR1):c.2121C>A (p.Gly707=) rs146104858
NM_000540.2(RYR1):c.2160C>G (p.Leu720=) rs200914778
NM_000540.2(RYR1):c.216G>T (p.Leu72=) rs113389877
NM_000540.2(RYR1):c.2319C>T (p.Asp773=) rs374924686
NM_000540.2(RYR1):c.2415T>C (p.Pro805=) rs141881325
NM_000540.2(RYR1):c.2622G>A (p.Ala874=) rs149381996
NM_000540.2(RYR1):c.2682+7G>A rs201498416
NM_000540.2(RYR1):c.271-7C>G rs192495718
NM_000540.2(RYR1):c.2919C>T (p.His973=) rs139363830
NM_000540.2(RYR1):c.3042G>A (p.Ala1014=) rs2228074
NM_000540.2(RYR1):c.3108C>A (p.Asp1036Glu) rs759317223
NM_000540.2(RYR1):c.3111C>T (p.Ser1037=) rs145434723
NM_000540.2(RYR1):c.3381C>T (p.Arg1127=) rs200780880
NM_000540.2(RYR1):c.3972G>A (p.Ala1324=) rs200451188
NM_000540.2(RYR1):c.4071C>T (p.Pro1357=) rs375709463
NM_000540.2(RYR1):c.4113G>C (p.Arg1371Ser) rs551509462
NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390
NM_000540.2(RYR1):c.4230C>T (p.Leu1410=) rs750872878
NM_000540.2(RYR1):c.4878C>T (p.Ala1626=) rs369466056
NM_000540.2(RYR1):c.4980C>T (p.Arg1660=) rs374115286
NM_000540.2(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950
NM_000540.2(RYR1):c.5120G>A (p.Arg1707His) rs371566475
NM_000540.2(RYR1):c.5235G>A (p.Thr1745=) rs149471411
NM_000540.2(RYR1):c.5364T>G (p.Ala1788=) rs200950362
NM_000540.2(RYR1):c.5493G>T (p.Gly1831=) rs140004449
NM_000540.2(RYR1):c.5634G>C (p.Glu1878Asp) rs114203198
NM_000540.2(RYR1):c.5637C>T (p.Asp1879=) rs143418190
NM_000540.2(RYR1):c.5736G>A (p.Glu1912=) rs753416949
NM_000540.2(RYR1):c.6150G>A (p.Glu2050=) rs727504131
NM_000540.2(RYR1):c.624C>T (p.Cys208=) rs746914281
NM_000540.2(RYR1):c.6274+1G>A rs1226228092
NM_000540.2(RYR1):c.6384C>T (p.Tyr2128=) rs75181912
NM_000540.2(RYR1):c.6640G>A (p.Val2214Ile) rs193922795
NM_000540.2(RYR1):c.6645C>T (p.Leu2215=) rs146617004
NM_000540.2(RYR1):c.6654C>T (p.Gly2218=) rs149185729
NM_000540.2(RYR1):c.6721C>T rs200563280
NM_000540.2(RYR1):c.7281C>T (p.Ala2427=) rs77310009
NM_000540.2(RYR1):c.7433C>A (p.Thr2478Asn) rs141298868
NM_000540.2(RYR1):c.7463_7475del (p.Pro2488fs) rs794727683
NM_000540.2(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000540.2(RYR1):c.7608G>A (p.Leu2536=) rs201686887
NM_000540.2(RYR1):c.7615-5C>T rs768008924
NM_000540.2(RYR1):c.7737G>A (p.Val2579=) rs114975624
NM_000540.2(RYR1):c.7923C>G (p.Leu2641=) rs142558977
NM_000540.2(RYR1):c.8073C>T (p.Tyr2691=) rs202160739
NM_000540.2(RYR1):c.8305G>A (p.Asp2769Asn) rs566495420
NM_000540.2(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584
NM_000540.2(RYR1):c.8376G>A (p.Arg2792=) rs150388417
NM_000540.2(RYR1):c.8505A>T (p.Glu2835Asp) rs144777676
NM_000540.2(RYR1):c.8616+7G>A rs200023171
NM_000540.2(RYR1):c.8733C>A (p.Leu2911=) rs200427576
NM_000540.2(RYR1):c.8827G>A (p.Asp2943Asn) rs79294840
NM_000540.2(RYR1):c.9242T>C (p.Met3081Thr) rs147012990
NM_000540.2(RYR1):c.9262G>A (p.Val3088Met) rs145044872
NM_000540.2(RYR1):c.9355C>T (p.Arg3119Cys) rs61739911
NM_000540.2(RYR1):c.9385C>T (p.Leu3129Phe) rs143445685
NM_000540.2(RYR1):c.9414G>A (p.Pro3138=) rs116130182
NM_000540.2(RYR1):c.9456C>T (p.Phe3152=) rs369206584
NM_000540.2(RYR1):c.94C>T (p.Leu32Phe) rs138630815
NM_000540.2(RYR1):c.9555-9G>A rs149569999
NM_000540.2(RYR1):c.9624G>T (p.Pro3208=) rs552470353
NM_000540.2(RYR1):c.9685+16C>T rs45496799
NM_000540.2(RYR1):c.9723C>T (p.Pro3241=) rs199828145
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.1021G>A (p.Gly341Arg) rs121918592
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857
NM_000540.3(RYR1):c.10687-7C>T rs2960354
NM_000540.3(RYR1):c.12852CACGGCGGC[3] (p.4285TAA[3]) rs398123469
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=) rs113579185
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.14833C>T rs1432807966
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148
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.5665GAG[2] (p.Glu1891del) rs559371263
NM_000540.3(RYR1):c.594A>G (p.Leu198=) rs2229139
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.7360C>T (p.Arg2454Cys) rs193922816
NM_000540.3(RYR1):c.7373G>A (p.Arg2458His) rs121918594
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_000541.5(SAG):c.250C>T (p.Arg84Cys) rs115857633
NM_000541.5(SAG):c.301G>A (p.Ala101Thr) rs141521563
NM_000541.5(SAG):c.468C>T (p.Phe156=) rs375593027
NM_000541.5(SAG):c.843G>A (p.Thr281=) rs374774483
NM_000542.5(SFTPB):c.403G>A (p.Gly135Ser) rs35373464
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=) rs72896268
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5]) rs3838786
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=) rs147258619
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala) rs35122256
NM_000543.5(SMPD1):c.1598C>T (p.Pro533Leu) rs199915216
NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met) rs35785620
NM_000543.5(SMPD1):c.441G>A (p.Val147=) rs148944108
NM_000543.5(SMPD1):c.757G>C (p.Asp253His) rs398123479
NM_000543.5(SMPD1):c.83C>T (p.Pro28Leu) rs556155962
NM_000543.5(SMPD1):c.887G>A (p.Arg296Gln) rs35824453
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile) rs2723669
NM_000545.6(HNF1A):c.1460G>A (p.Ser487Asn) rs2464196
NM_000545.6(HNF1A):c.79A>C (p.Ile27Leu) rs1169288
NM_000546.5(TP53):c.559+8G>A rs775915220
NM_000546.5(TP53):c.704A>G (p.Asn235Ser) rs144340710
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000548.3(TS