ClinVar Miner

Variants from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories: Collection method of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
1799 1697 145 1946 960 121 295 2764

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
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective risk factor other
pathogenic 42 197 68 12 7 0 13 3 11 24
likely pathogenic 71 0 55 3 1 0 0 0 1 7
uncertain significance 60 58 7 286 113 0 2 0 3 15
likely benign 23 8 322 5 320 0 0 0 2 15
benign 34 9 320 1358 91 2 3 1 12 15

Submitter to submitter summary #

Total submitters: 161
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
Illumina Clinical Services Laboratory,Illumina 0 586 0 920 233 0 19 1171
Invitae 0 1787 0 302 182 5 55 543
GeneDx 0 1672 1 277 142 1 35 456
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1138 0 128 142 10 32 312
Ambry Genetics 0 1028 0 212 72 0 12 296
Integrated Genetics/Laboratory Corporation of America 0 743 3 88 101 0 27 219
Genetic Services Laboratory, University of Chicago 0 189 0 171 31 0 4 206
Counsyl 0 410 0 153 19 0 30 202
PreventionGenetics 0 1159 0 161 35 0 3 199
OMIM 0 288 0 22 26 86 67 194
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 824 0 82 87 0 16 185
Color 0 546 0 104 49 0 5 158
Biesecker Lab/Human Development Section,National Institutes of Health 0 67 64 29 42 0 0 135
Quest Diagnostics Nichols Institute San Juan Capistrano 0 230 0 63 32 0 7 101
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 163 0 73 15 0 8 96
CeGaT Praxis fuer Humangenetik Tuebingen 0 61 0 37 47 0 12 96
True Health Diagnostics 0 62 0 84 5 1 0 90
GeneReviews 0 89 46 10 3 1 28 87
Breast Cancer Information Core (BIC) (BRCA2) 0 93 0 5 77 0 3 85
Center for Human Genetics, Inc 0 74 0 52 29 0 2 83
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 218 0 64 15 0 2 81
Department of Pathology and Laboratory Medicine,Sinai Health System 0 272 0 46 12 0 0 58
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 121 0 47 9 0 1 57
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 109 0 51 6 0 0 57
Athena Diagnostics Inc 0 258 0 36 16 0 2 54
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 21 41 8 4 0 0 53
Fulgent Genetics 0 203 0 41 8 0 2 51
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 20 0 49 2 0 0 51
CSER_CC_NCGL; University of Washington Medical Center 0 47 0 22 24 0 4 50
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 159 0 44 6 0 0 50
Sharing Clinical Reports Project (SCRP) 0 149 0 23 16 0 0 39
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 96 0 21 11 0 5 37
Breast Cancer Information Core (BIC) (BRCA1) 0 40 0 0 35 0 1 36
Mendelics 0 83 0 12 13 0 6 31
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 164 0 28 3 0 0 31
Pathway Genomics 0 56 0 22 4 0 0 26
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 201 0 24 1 0 0 25
Database of Curated Mutations (DoCM) 0 4 0 18 0 0 3 21
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 55 0 18 3 0 0 21
Blueprint Genetics, 0 29 0 6 10 1 1 18
PharmGKB 0 0 0 0 0 17 0 17
Michigan Medical Genetics Laboratories,University of Michigan 0 116 0 13 3 0 0 16
Vantari Genetics 0 28 0 12 3 0 0 15
Center for Medical Genetics Ghent,University of Ghent 0 15 0 9 3 0 2 14
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 19 0 3 9 0 2 14
SIB Swiss Institute of Bioinformatics 0 23 0 6 5 0 2 13
Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research 0 25 0 3 5 0 4 12
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 15 0 3 7 0 2 12
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 21 0 7 3 0 2 12
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 4 0 2 1 0 9 12
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 25 0 3 4 0 3 10
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 25 0 1 9 0 0 10
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 0 1 0 9 1 0 0 10
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 26 0 4 4 1 1 10
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 47 0 4 3 0 2 9
ARUP Institute,ARUP Laboratories 0 72 0 7 0 0 2 9
Baylor Miraca Genetics Laboratories, 0 118 0 5 1 0 2 8
Systems Biology Platform Zhejiang California International NanoSystems Institute 0 0 0 0 0 8 0 8
GeneKor MSA 0 53 0 5 2 1 0 8
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 3 0 3 3 0 2 8
University of Washington Department of Laboratory Medicine,University of Washington 0 17 0 4 3 1 0 8
NIHR Bioresource Rare Diseases,University of Cambridge 0 1 0 3 1 0 3 7
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 0 5 0 0 7 0 0 7
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 61 0 7 0 0 0 7
UCLA Clinical Genomics Center, UCLA 0 3 0 5 0 0 1 6
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 13 0 1 5 0 0 6
Dan Cohn Lab,University Of California Los Angeles 0 2 0 3 0 0 3 6
ClinGen RASopathy Variant Curation Expert Panel, 0 28 0 2 4 0 0 6
Claritas Genomics 0 6 0 3 2 0 0 5
Division of Human Genetics,Children's Hospital of Philadelphia 0 23 0 2 1 0 2 5
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 14 0 2 0 1 2 5
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 4 0 1 4 0 0 5
Wong Mito Lab, Molecular and Human Genetics,Baylor College of Medicine 0 4 0 2 2 0 1 5
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 17 0 3 0 0 1 4
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 25 0 1 0 2 1 4
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 4 0 0 0 4
Department of Pathology and Molecular Medicine,Queen's University 0 24 0 3 1 0 0 4
Gharavi Laboratory,Columbia University 0 10 0 2 0 0 2 4
ClinGen Hearing Loss Variant Curation Expert Panel, 0 6 0 0 0 0 4 4
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 5 0 4 0 0 0 4
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 3 0 4 0 0 0 4
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 1 0 0 2 3
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 7 0 1 2 0 0 3
HudsonAlpha Institute for Biotechnology 0 20 0 2 0 0 1 3
Medical Genetics,University of Parma 0 1 0 1 1 0 1 3
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 0 0 3 0 0 3
Department of Medical Genetics,University Hospital of North Norway 0 2 0 3 0 0 0 3
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 1 1 0 1 3
ClinGen PTEN Variant Curation Expert Panel 0 2 0 2 1 0 0 3
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 24 0 0 2 0 0 2
Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute 0 1 0 0 1 0 1 2
Institute of Human Genetics,Klinikum rechts der Isar 0 3 0 2 0 0 0 2
PALB2 database 0 8 0 1 1 0 0 2
Wellcome Centre for Mitochondrial Research,Newcastle University 0 4 0 1 0 0 1 2
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 1 1 0 0 0 1 2
Forschungslabor Klinik Innere Medizin A University Medicine Greifswald 0 0 0 0 2 0 0 2
University of Washington Center for Mendelian Genomics,University of Washington 0 2 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 3 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 3 0 0 1 0 1 2
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 0 0 1 1 0 0 2
Centre for Genomic and Experimental Medicine,University of Edinburgh 0 4 0 0 1 0 1 2
Center for Human Genetics,University of Leuven 0 2 0 1 0 0 1 2
Laboratory of Prof. Karen Avraham,Tel Aviv University 0 0 0 1 0 0 1 2
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 0 1 0 1 0 0 1 2
Genetics,Medical University of Vienna 0 0 0 2 0 0 0 2
Phosphorus, Inc. 0 10 0 0 2 0 0 2
Snyder Lab, Genetics Department,Stanford University 0 0 0 1 0 1 0 2
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 63 0 2 0 0 0 2
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 0 0 0 1 0 0 1 2
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 2 0 1 0 0 1 2
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 7 0 1 1 0 0 2
Johns Hopkins Genomics,Johns Hopkins University 0 2 0 0 1 0 1 2
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 6246 13 0 0 0 0 1 1
Medical Genomics Laboratory,Department of Genetics UAB 0 1 0 1 0 0 0 1
Institute of Human Genetics,Cologne University 0 0 0 0 0 0 1 1
FirmaLab 0 1 0 0 0 0 1 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 0 8 0 1 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 0 0 0 1 1
Richard Lifton Laboratory, Yale University School of Medicine 0 0 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 11 0 0 0 0 1 1
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 18 0 0 0 0 1 1
GenMed Metabolism Lab 0 2 0 1 0 0 0 1
Center for Genetic Medicine Research,Children's National Medical Center 0 0 0 0 1 0 0 1
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 0 0 0 1 0 0 0 1
Department of Pharmacy and Biotechnology,University of Bologna 0 1 0 0 1 0 0 1
Section on Endocrinology and Genetics,National Institutes of Health / The Eunice Kennedy Shriver National Institute of Child Health and Human Development 0 1 0 1 0 0 0 1
Department of Genetics, Reproduction and Fetal Medicine.,Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville. 0 0 0 0 1 0 0 1
Department of Neurology, University Hospital of Strasbourg 0 0 0 0 0 0 1 1
Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute 0 0 0 0 0 0 1 1
Foundation Medicine, Inc. 0 0 0 0 1 0 0 1
Endocrine Unit 2,University Hospital of Pisa 0 0 0 0 1 0 0 1
Cytogenetics Laboratory,Banaras Hindu University 0 0 0 0 0 0 1 1
Genome Sciences Centre,British Columbia Cancer Agency 0 1 0 1 0 0 0 1
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 0 0 0 0 0 0 1 1
Clinical Genetics, Erasmus University Medical Center 0 0 0 0 1 0 0 1
Medical Research Institute,Tokyo Medical and Dental University 0 0 0 0 0 0 1 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 0 1 0 0 1
Bioinformatics dept.,Datar Cancer Genetics Limited, India 0 2 0 0 0 0 1 1
Center for Statistical Genetics,Baylor College of Medicine 0 2 0 0 1 0 0 1
Weber Lab,Hannover Medical School 0 1 0 0 0 0 1 1
GenePathDx,Causeway Health Care Private Ltd 0 1 0 0 1 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 2 0 0 1 0 0 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 1 0 1 0 0 0 1
Caryl and Israel Englander Institute for Precision Medicine,Weill Cornell Medicine 0 0 0 0 1 0 0 1
Endocrine oncology group,Uppsala University 0 0 0 1 0 0 0 1
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 7 0 0 1 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 7 0 0 0 0 1 1
Medical & Molecular Genetics Group,University of Lincoln 0 14 0 0 0 0 1 1
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 0 0 0 0 0 0 1 1
Translational Research Program on Neuronal Ceroid Lipofuscinosis,Center for the Study of Inborn Errors of Metabolism 0 0 0 0 0 0 1 1
Caldovic Lab,Children's National Health System 0 0 0 0 0 0 1 1
Laboratory of Molecular Neuropathology,The University of Texas Health Science Center at Houston 0 0 0 0 0 0 1 1
Department of Genetic, Henri Mondor Hospital,Assistance Publique des Hôpitaux de Paris 0 0 0 0 0 0 1 1
Pediatric Immunology Service,The Chaim Sheba Medical Center at Tel HaShomer 0 0 0 0 1 0 0 1
Hb Lab, Kinderklinik Ulm,University Hospital Ulm 0 0 0 0 0 0 1 1
Medical Genetics Summaries 0 0 0 0 0 1 0 1
3DMed Clinical Laboratory Inc 0 4 0 0 1 0 0 1
Cancer Variant Interpretation Group UK,Institute of Cancer Research, London 0 0 0 1 0 0 0 1
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 0 0 0 0 0 0 1 1
ClinGen CDH1 Variant Curation Expert Panel 0 1 0 1 0 0 0 1
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 0 11 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 2764
Download table as spreadsheet
HGVS dbSNP
G6PD:c.1455-13T>C rs2071429
NC_012920.1:m.11778G>A rs199476112
NC_012920.1:m.14484T>C rs199476104
NC_012920.1:m.3460G>A rs199476118
NM_000016.5(ACADM):c.*39G>A rs17848065
NM_000016.5(ACADM):c.*77C>T rs143911981
NM_000016.5(ACADM):c.-34T>C rs59932454
NM_000016.5(ACADM):c.107_113dup (p.Ser38Argfs) rs875989875
NM_000016.5(ACADM):c.1161A>G (p.Val387=) rs1061337
NM_000016.5(ACADM):c.118+18T>A rs755405418
NM_000016.5(ACADM):c.1189T>A (p.Tyr397Asn) rs759158371
NM_000016.5(ACADM):c.127G>A (p.Glu43Lys) rs147559466
NM_000016.5(ACADM):c.157C>T (p.Arg53Cys) rs398123072
NM_000016.5(ACADM):c.199T>C (p.Tyr67His) rs121434280
NM_000016.5(ACADM):c.250C>T (p.Leu84Phe) rs762114560
NM_000016.5(ACADM):c.347G>A (p.Cys116Tyr) rs875989859
NM_000016.5(ACADM):c.351A>C (p.Thr117=) rs74090726
NM_000016.5(ACADM):c.362C>T (p.Thr121Ile) rs121434283
NM_000016.5(ACADM):c.388-3T>G rs764942250
NM_000016.5(ACADM):c.395C>G (p.Pro132Arg) rs875989854
NM_000016.5(ACADM):c.430_432del (p.Lys144del) rs875989857
NM_000016.5(ACADM):c.443G>A (p.Arg148Lys) rs778906552
NM_000016.5(ACADM):c.447G>T (p.Met149Ile) rs121434277
NM_000016.5(ACADM):c.449_452delCTGA (p.Thr150Argfs) rs786204642
NM_000016.5(ACADM):c.469-9A>G rs181322317
NM_000016.5(ACADM):c.489T>G (p.Pro163=) rs78392995
NM_000016.5(ACADM):c.503A>C (p.Asp168Ala) rs745844469
NM_000016.5(ACADM):c.558T>A (p.Asn186Lys) rs754359356
NM_000016.5(ACADM):c.580A>G (p.Asn194Asp) rs773677327
NM_000016.5(ACADM):c.583G>A (p.Gly195Arg) rs121434278
NM_000016.5(ACADM):c.599+5G>A rs875989861
NM_000016.5(ACADM):c.600-18G>A rs370523609
NM_000016.5(ACADM):c.616C>T (p.Arg206Cys) rs373715782
NM_000016.5(ACADM):c.678A>G (p.Ala226=) rs2229249
NM_000016.5(ACADM):c.683C>A (p.Thr228Asn) rs149678400
NM_000016.5(ACADM):c.757G>A (p.Glu253Lys) rs768884003
NM_000016.5(ACADM):c.797A>G (p.Asp266Gly) rs201375579
NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) rs121434274
NM_000016.5(ACADM):c.817_829del (p.Ala273Leufs) rs875989872
NM_000016.5(ACADM):c.881G>C (p.Arg294Thr) rs779759347
NM_000016.5(ACADM):c.926dup (p.Gly310Argfs) rs875989864
NM_000016.5(ACADM):c.928G>A (p.Gly310Arg) rs747268471
NM_000016.5(ACADM):c.984del (p.Met328Ilefs) rs747610156
NM_000017.3(ACADS):c.1058C>T (p.Ser353Leu) rs28941773
NM_000017.3(ACADS):c.511C>T (p.Arg171Trp) rs1800556
NM_000018.3(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163
NM_000018.3(ACADVL):c.1322G>A (p.Gly441Asp) rs2309689
NM_000018.3(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180
NM_000018.3(ACADVL):c.1837C>T (p.Arg613Trp) rs118204014
NM_000018.3(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617
NM_000018.3(ACADVL):c.194C>T (p.Pro65Leu) rs28934585
NM_000018.3(ACADVL):c.49C>T (p.Leu17Phe) rs2230179
NM_000018.3(ACADVL):c.538G>A (p.Ala180Thr) rs727503791
NM_000018.3(ACADVL):c.623-8C>T rs144996066
NM_000018.3(ACADVL):c.68G>A (p.Arg23Gln) rs34153370
NM_000018.3(ACADVL):c.693T>A (p.Ser231=) rs77763289
NM_000018.3(ACADVL):c.848T>C (p.Val283Ala) rs113994167
NM_000018.3(ACADVL):c.896_898delAGA (p.Lys299del) rs387906252
NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val) rs934797393
NM_000018.4(ACADVL):c.1038G>A (p.Ala346=) rs8064573
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met) rs113994169
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp) rs533055438
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg) rs886043236
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) rs113994170
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp) rs1057520088
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371
NM_000020.2(ACVRL1):c.*58G>A rs182368657
NM_000020.2(ACVRL1):c.-52G>A rs573048639
NM_000020.2(ACVRL1):c.1055C>A (p.Ala352Asp) rs1085307415
NM_000020.2(ACVRL1):c.1131A>G (p.Ala377=) rs61734313
NM_000020.2(ACVRL1):c.1135G>A (p.Glu379Lys) rs1131691686
NM_000020.2(ACVRL1):c.1219G>A (p.Glu407Lys) rs1057521203
NM_000020.2(ACVRL1):c.1377+45T>C rs706815
NM_000020.2(ACVRL1):c.1435C>T (p.Arg479Ter) rs1057517944
NM_000020.2(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865
NM_000020.2(ACVRL1):c.207C>T (p.Cys69=) rs56080682
NM_000020.2(ACVRL1):c.330G>A (p.Ser110=) rs77341011
NM_000020.2(ACVRL1):c.747G>A (p.Val249=) rs1058563
NM_000020.2(ACVRL1):c.955G>C (p.Gly319Arg) rs1085307414
NM_000022.2(ADA):c.22G>A (p.Asp8Asn) rs73598374
NM_000022.2(ADA):c.390G>A (p.Val130=) rs61737144
NM_000022.2(ADA):c.632G>A (p.Arg211His) rs121908716
NM_000023.3(SGCA):c.528C>T (p.Thr176=) rs1801190
NM_000033.3(ABCD1):c.823C>T (p.Arg275Trp) rs782083931
NM_000037.3(ANK1):c.2403G>A (p.Lys801=) rs147130318
NM_000038.5(APC):c.1458T>C (p.Tyr486=) rs2229992
NM_000038.5(APC):c.1635G>A (p.Ala545=) rs351771
NM_000038.5(APC):c.1695A>G (p.Glu565=) rs77921116
NM_000038.5(APC):c.1866C>A (p.Tyr622Ter) rs876658355
NM_000038.5(APC):c.1958+8T>C rs62626346
NM_000038.5(APC):c.2232T>G (p.Ser744=) rs145751759
NM_000038.5(APC):c.2608C>T (p.Pro870Ser) rs33974176
NM_000038.5(APC):c.2805C>T (p.Tyr935=) rs137854575
NM_000038.5(APC):c.295C>T (p.Arg99Trp) rs139196838
NM_000038.5(APC):c.311C>G (p.Ser104Ter) rs74953290
NM_000038.5(APC):c.3165A>T (p.Ile1055=) rs61734287
NM_000038.5(APC):c.3386T>C (p.Leu1129Ser) rs143638171
NM_000038.5(APC):c.3468_3470delAGA (p.Glu1157del) rs386833391
NM_000038.5(APC):c.3732A>G (p.Gln1244=) rs74380081
NM_000038.5(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.5(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000038.5(APC):c.4326T>A (p.Pro1442=) rs67622085
NM_000038.5(APC):c.4420G>A (p.Ala1474Thr) rs139387758
NM_000038.5(APC):c.4479G>A (p.Thr1493=) rs41115
NM_000038.5(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000038.5(APC):c.5034G>A (p.Gly1678=) rs42427
NM_000038.5(APC):c.5250C>G (p.Val1750=) rs2229997
NM_000038.5(APC):c.5265G>A (p.Ala1755=) rs34506289
NM_000038.5(APC):c.5268T>G (p.Ser1756=) rs866006
NM_000038.5(APC):c.5880G>A (p.Pro1960=) rs465899
NM_000038.5(APC):c.6669A>G (p.Ser2223=) rs372680843
NM_000038.5(APC):c.6821C>T (p.Ala2274Val) rs34919187
NM_000038.5(APC):c.705A>G (p.Leu235=) rs147036141
NM_000038.5(APC):c.70C>T (p.Arg24Ter) rs145945630
NM_000038.5(APC):c.7201C>T (p.Leu2401=) rs2229994
NM_000038.5(APC):c.7415C>T (p.Ala2472Val) rs200399245
NM_000038.5(APC):c.7704A>G (p.Gly2568=) rs35043160
NM_000038.5(APC):c.7786T>G (p.Ser2596Ala) rs138137162
NM_000038.5(APC):c.7862C>G (p.Ser2621Cys) rs72541816
NM_000038.5(APC):c.933+30A>G rs145211300
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552
NM_000050.4(ASS1):c.1069C>T (p.Gln357Ter) rs756859126
NM_000050.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640
NM_000050.4(ASS1):c.836G>A (p.Arg279Gln) rs371265106
NM_000050.4(ASS1):c.876T>C (p.His292=) rs1057484
NM_000051.3(ATM):c.1066-6T>G rs201686625
NM_000051.3(ATM):c.1254A>G (p.Gln418=) rs4987943
NM_000051.3(ATM):c.146C>G (p.Ser49Cys) rs1800054
NM_000051.3(ATM):c.1541G>A (p.Gly514Asp) rs2235000
NM_000051.3(ATM):c.162T>C (p.Tyr54=) rs3218690
NM_000051.3(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.3(ATM):c.1986T>C (p.Phe662=) rs1800055
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.2572T>C (p.Phe858Leu) rs1800056
NM_000051.3(ATM):c.2921+1G>A rs587781558
NM_000051.3(ATM):c.3118A>G (p.Met1040Val) rs3092857
NM_000051.3(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.3(ATM):c.3993+5G>T rs3092842
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.4362A>C (p.Lys1454Asn) rs148993589
NM_000051.3(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.3(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941
NM_000051.3(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.3(ATM):c.5497-8T>C rs3092829
NM_000051.3(ATM):c.5557G>A (p.Asp1853Asn) rs1801516
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.5793T>C (p.Ala1931=) rs3092910
NM_000051.3(ATM):c.609C>T (p.Asp203=) rs144709948
NM_000051.3(ATM):c.6235G>A (p.Val2079Ile) rs1800060
NM_000051.3(ATM):c.6382T>C (p.Leu2128=) rs753646931
NM_000051.3(ATM):c.6437G>C (p.Ser2146Thr) rs56815840
NM_000051.3(ATM):c.7271T>G (p.Val2424Gly) rs28904921
NM_000051.3(ATM):c.7788+8G>T rs112775908
NM_000051.3(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.3(ATM):c.9006C>T (p.Phe3002=) rs540172506
NM_000051.3(ATM):c.998C>T (p.Ser333Phe) rs28904919
NM_000052.6(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687
NM_000052.7(ATP7A):c.1737A>G (p.Val579=) rs189353691
NM_000053.3(ATP7B):c.*15C>T rs73498144
NM_000053.3(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243
NM_000053.3(ATP7B):c.1366G>C (p.Val456Leu) rs1801244
NM_000053.3(ATP7B):c.1620C>T (p.Leu540=) rs145798966
NM_000053.3(ATP7B):c.19_20delCA (p.Gln7Aspfs) rs749363958
NM_000053.3(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027
NM_000053.3(ATP7B):c.2855G>A (p.Arg952Lys) rs732774
NM_000053.3(ATP7B):c.2866-13G>C rs7325983
NM_000053.3(ATP7B):c.2955C>T (p.Cys985=) rs116587608
NM_000053.3(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000053.3(ATP7B):c.2973G>A (p.Thr991=) rs1801246
NM_000053.3(ATP7B):c.3009G>A (p.Ala1003=) rs1801247
NM_000053.3(ATP7B):c.3015C>T (p.Asn1005=) rs74085888
NM_000053.3(ATP7B):c.3045G>A (p.Leu1015=) rs1801248
NM_000053.3(ATP7B):c.3060+16G>T rs76163470
NM_000053.3(ATP7B):c.3101A>G (p.His1034Arg) rs74085882
NM_000053.3(ATP7B):c.314C>A (p.Ser105Ter) rs753236073
NM_000053.3(ATP7B):c.3207C>A (p.His1069Gln) rs76151636
NM_000053.3(ATP7B):c.3272G>A (p.Cys1091Tyr) rs778825095
NM_000053.3(ATP7B):c.3369G>A (p.Pro1123=) rs61733679
NM_000053.3(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249
NM_000053.3(ATP7B):c.3557-6C>T rs140708492
NM_000053.3(ATP7B):c.3620A>G (p.His1207Arg) rs7334118
NM_000053.3(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496
NM_000053.3(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850
NM_000053.3(ATP7B):c.3891C>T (p.Val1297=) rs114771537
NM_000053.3(ATP7B):c.3955C>T (p.Arg1319Ter) rs193922109
NM_000053.3(ATP7B):c.4051C>T (p.Gln1351Ter) rs786204578
NM_000053.3(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972
NM_000053.3(ATP7B):c.4311G>A (p.Lys1437=) rs73202048
NM_000059.3(BRCA2):c.*105A>C rs15869
NM_000059.3(BRCA2):c.*14C>T rs373436334
NM_000059.3(BRCA2):c.-11C>T rs76874770
NM_000059.3(BRCA2):c.-15A>C rs138705202
NM_000059.3(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.3(BRCA2):c.10111A>G (p.Thr3371Ala) rs80358393
NM_000059.3(BRCA2):c.10202C>T (p.Thr3401Met) rs55853199
NM_000059.3(BRCA2):c.10203G>A (p.Thr3401=) rs147854265
NM_000059.3(BRCA2):c.1021T>C (p.Cys341Arg) rs55833327
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.3(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493
NM_000059.3(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.3(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475
NM_000059.3(BRCA2):c.1167G>A (p.Pro389=) rs148607710
NM_000059.3(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046
NM_000059.3(BRCA2):c.1275A>G (p.Glu425=) rs34355306
NM_000059.3(BRCA2):c.1362A>G (p.Lys454=) rs55919657
NM_000059.3(BRCA2):c.1395A>C (p.Val465=) rs11571641
NM_000059.3(BRCA2):c.1460C>A (p.Ala487Glu) rs56390402
NM_000059.3(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708
NM_000059.3(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451
NM_000059.3(BRCA2):c.1719T>C (p.Ala573=) rs1450934154
NM_000059.3(BRCA2):c.175C>G (p.Pro59Ala) rs56091799
NM_000059.3(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.3(BRCA2):c.1788T>C (p.Asp596=) rs11571642
NM_000059.3(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710
NM_000059.3(BRCA2):c.1798T>C (p.Tyr600His) rs75419644
NM_000059.3(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479
NM_000059.3(BRCA2):c.1909+22delT rs276174816
NM_000059.3(BRCA2):c.1911T>C (p.Gly637=) rs11571652
NM_000059.3(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.3(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712
NM_000059.3(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687
NM_000059.3(BRCA2):c.2208A>G (p.Ala736=) rs144984153
NM_000059.3(BRCA2):c.223G>C (p.Ala75Pro) rs28897701
NM_000059.3(BRCA2):c.2256C>T (p.Asp752=) rs766384913
NM_000059.3(BRCA2):c.231T>G (p.Thr77=) rs114446594
NM_000059.3(BRCA2):c.2350A>G (p.Met784Val) rs11571653
NM_000059.3(BRCA2):c.2786T>C (p.Leu929Ser) rs2227943
NM_000059.3(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716
NM_000059.3(BRCA2):c.2820A>G (p.Gln940=) rs771061558
NM_000059.3(BRCA2):c.2883G>A (p.Gln961=) rs11571655
NM_000059.3(BRCA2):c.2960A>T (p.Asn987Ile) rs2227944
NM_000059.3(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944
NM_000059.3(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633
NM_000059.3(BRCA2):c.316+12A>G rs186419778
NM_000059.3(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.3(BRCA2):c.3417G>A (p.Lys1139=) rs145625991
NM_000059.3(BRCA2):c.3420T>C (p.Ser1140=) rs118093942
NM_000059.3(BRCA2):c.343A>G (p.Lys115Glu) rs56242644
NM_000059.3(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600
NM_000059.3(BRCA2):c.3516G>A (p.Ser1172=) rs1799952
NM_000059.3(BRCA2):c.352C>T (p.Arg118Cys) rs375125172
NM_000059.3(BRCA2):c.3539A>G (p.Lys1180Arg) rs28897720
NM_000059.3(BRCA2):c.3545_3546delTT (p.Phe1182Terfs) rs80359388
NM_000059.3(BRCA2):c.3575T>G (p.Phe1192Cys) rs80358606
NM_000059.3(BRCA2):c.3661T>C (p.Ser1221Pro) rs80358611
NM_000059.3(BRCA2):c.3672C>T (p.Gly1224=) rs587780650
NM_000059.3(BRCA2):c.3858_3860delAAA (p.Lys1286del) rs80359406
NM_000059.3(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485
NM_000059.3(BRCA2):c.4054G>T (p.Asp1352Tyr) rs80358655
NM_000059.3(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
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.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.3(BRCA2):c.4258delG (p.Asp1420Ilefs) rs80359436
NM_000059.3(BRCA2):c.426-37T>A rs81002859
NM_000059.3(BRCA2):c.4271C>G (p.Ser1424Cys) rs80358664
NM_000059.3(BRCA2):c.440A>G (p.Gln147Arg) rs80358674
NM_000059.3(BRCA2):c.4464_4465delCA (p.His1488Glnfs) rs397507720
NM_000059.3(BRCA2):c.4478_4481delAAAG (p.Glu1493Valfs) rs80359454
NM_000059.3(BRCA2):c.4534C>T (p.Arg1512Cys) rs80358684
NM_000059.3(BRCA2):c.4584C>T (p.Ser1528=) rs80359788
NM_000059.3(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728
NM_000059.3(BRCA2):c.4681C>A (p.His1561Asn) rs2219594
NM_000059.3(BRCA2):c.4686A>G (p.Gln1562=) rs28897730
NM_000059.3(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561
NM_000059.3(BRCA2):c.516+21A>T rs11571622
NM_000059.3(BRCA2):c.517-19C>T rs11571623
NM_000059.3(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415
NM_000059.3(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.3(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755
NM_000059.3(BRCA2):c.5414A>G (p.Asn1805Ser) rs80358765
NM_000059.3(BRCA2):c.5418A>G (p.Glu1806=) rs34351119
NM_000059.3(BRCA2):c.5427C>T (p.Cys1809=) rs80359791
NM_000059.3(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768
NM_000059.3(BRCA2):c.5612G>A (p.Ser1871Asn) rs80358782
NM_000059.3(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097
NM_000059.3(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.3(BRCA2):c.5768A>C (p.Asp1923Ala) rs45491005
NM_000059.3(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375
NM_000059.3(BRCA2):c.5851_5854delAGTT (p.Ser1951Trpfs) rs80359543
NM_000059.3(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815
NM_000059.3(BRCA2):c.5869A>G (p.Ile1957Val) rs80358817
NM_000059.3(BRCA2):c.5879G>A (p.Cys1960Tyr) rs56157628
NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs) rs80359550
NM_000059.3(BRCA2):c.6037A>T (p.Lys2013Ter) rs80358840
NM_000059.3(BRCA2):c.6057C>T (p.Asn2019=) rs147961615
NM_000059.3(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.3(BRCA2):c.6143A>T (p.Asn2048Ile) rs80358853
NM_000059.3(BRCA2):c.6220C>A (p.His2074Asn) rs34309943
NM_000059.3(BRCA2):c.6323G>A (p.Arg2108His) rs35029074
NM_000059.3(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.3(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659
NM_000059.3(BRCA2):c.658_659delGT (p.Val220Ilefs) rs80359604
NM_000059.3(BRCA2):c.67+62T>G rs11571574
NM_000059.3(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235
NM_000059.3(BRCA2):c.6921A>G (p.Ser2307=) rs181183366
NM_000059.3(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331
NM_000059.3(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932
NM_000059.3(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008
NM_000059.3(BRCA2):c.7317A>G (p.Gly2439=) rs587780660
NM_000059.3(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.3(BRCA2):c.7397C= (p.Ala2466=) rs169547
NM_000059.3(BRCA2):c.7397C>T (p.Ala2466Val) rs169547
NM_000059.3(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707
NM_000059.3(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624
NM_000059.3(BRCA2):c.7505G>A (p.Arg2502His) rs56070345
NM_000059.3(BRCA2):c.7522G>A (p.Gly2508Ser) rs80358978
NM_000059.3(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744
NM_000059.3(BRCA2):c.7626G>A (p.Thr2542=) rs61754138
NM_000059.3(BRCA2):c.7805+6C>G rs81002819
NM_000059.3(BRCA2):c.7806-40A>G rs9590939
NM_000059.3(BRCA2):c.7976+12G>A rs81002827
NM_000059.3(BRCA2):c.8057T>C (p.Leu2686Pro) rs28897746
NM_000059.3(BRCA2):c.8092G>A (p.Ala2698Thr) rs80359052
NM_000059.3(BRCA2):c.8124T>G (p.Thr2708=) rs587780662
NM_000059.3(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.3(BRCA2):c.8154T>C (p.Ile2718=) rs148880015
NM_000059.3(BRCA2):c.8167G>C (p.Asp2723His) rs41293511
NM_000059.3(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749
NM_000059.3(BRCA2):c.8460A>C (p.Val2820=) rs9590940
NM_000059.3(BRCA2):c.8487+19A>G rs11571743
NM_000059.3(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746
NM_000059.3(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.3(BRCA2):c.856T>C (p.Ser286Pro) rs80359111
NM_000059.3(BRCA2):c.865A>C (p.Asn289His) rs766173
NM_000059.3(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047
NM_000059.3(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.3(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.3(BRCA2):c.8905G>A (p.Val2969Met) rs59004709
NM_000059.3(BRCA2):c.8917C>T (p.Arg2973Cys) rs45469092
NM_000059.3(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.3(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000059.3(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907
NM_000059.3(BRCA2):c.9235delG (p.Val3079Phefs) rs397507422
NM_000059.3(BRCA2):c.9253A>C (p.Thr3085Pro) rs397507423
NM_000059.3(BRCA2):c.9257-16T>C rs11571818
NM_000059.3(BRCA2):c.9275A>G (p.Tyr3092Cys) rs80359195
NM_000059.3(BRCA2):c.9284A>G (p.Asp3095Gly) rs1060502443
NM_000059.3(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521
NM_000059.3(BRCA2):c.9493A>G (p.Thr3165Ala) rs587782568
NM_000059.3(BRCA2):c.9501+9A>C rs81002867
NM_000059.3(BRCA2):c.9509A>G (p.Asp3170Gly) rs80359224
NM_000059.3(BRCA2):c.9592T>C (p.Cys3198Arg) rs80359229
NM_000059.3(BRCA2):c.9634G>C (p.Gly3212Arg) rs55775473
NM_000059.3(BRCA2):c.9649-19G>A rs11571830
NM_000059.3(BRCA2):c.9649-20C>T rs56177715
NM_000059.3(BRCA2):c.9728C>T (p.Pro3243Leu) rs80359241
NM_000059.3(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000059.3(BRCA2):c.9770A>G (p.Lys3257Arg) rs55847618
NM_000059.3(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.3(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_000059.3(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000061.2(BTK):c.615G>T (p.Glu205Asp) rs35877704
NM_000071.2(CBS):c.1105C>T (p.Arg369Cys) rs117687681
NM_000071.2(CBS):c.1145+7C>T rs201158177
NM_000071.2(CBS):c.304A>C (p.Lys102Gln) rs34040148
NM_000071.2(CBS):c.573G>A (p.Thr191=) rs73906420
NM_000074.2(CD40LG):c.-191A>C rs36206512
NM_000074.2(CD40LG):c.542G>C (p.Arg181Pro) rs11575982
NM_000074.2(CD40LG):c.655G>A (p.Gly219Arg) rs148594123
NM_000088.3(COL1A1):c.1300-8C>G rs41317361
NM_000088.3(COL1A1):c.1300-8C>T rs41317361
NM_000088.3(COL1A1):c.1583G>A (p.Arg528His) rs144751329
NM_000088.3(COL1A1):c.1615-4C>A rs41316657
NM_000088.3(COL1A1):c.2115C>T (p.Asn705=) rs41316673
NM_000088.3(COL1A1):c.3479G>A (p.Gly1160Asp) rs886039726
NM_000088.3(COL1A1):c.3897C>T (p.Cys1299=) rs34940368
NM_000088.3(COL1A1):c.4181A>G (p.Asn1394Ser) rs147266928
NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) rs72667032
NM_000089.3(COL1A2):c.122G>A (p.Arg41His) rs139528613
NM_000089.3(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163
NM_000089.3(COL1A2):c.304C>T (p.Pro102Ser) rs189557655
NM_000089.3(COL1A2):c.594+5A>T rs200744314
NM_000089.3(COL1A2):c.948C>T (p.Gly316=) rs34511999
NM_000090.3(COL3A1):c.1188C>T (p.Gly396=) rs745743884
NM_000090.3(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890
NM_000090.3(COL3A1):c.1815+5G>A rs146652498
NM_000090.3(COL3A1):c.1927T>C (p.Leu643=) rs41263757
NM_000090.3(COL3A1):c.1977+9C>T rs184223621
NM_000090.3(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.3(COL3A1):c.2002C>T (p.Pro668Ser) rs1801183
NM_000090.3(COL3A1):c.2056C>G (p.Pro686Ala) rs41263775
NM_000090.3(COL3A1):c.2805T>C (p.Pro935=) rs111567071
NM_000090.3(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440
NM_000090.3(COL3A1):c.3112G>C (p.Gly1038Arg)
NM_000090.3(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000093.4(COL5A1):c.-37G>A rs374979485
NM_000093.4(COL5A1):c.1158C>T (p.Ser386=) rs61729497
NM_000093.4(COL5A1):c.1191G>T (p.Ala397=) rs199755089
NM_000093.4(COL5A1):c.126C>T (p.Leu42=) rs149369116
NM_000093.4(COL5A1):c.1383C>T (p.Ile461=) rs61736827
NM_000093.4(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_000093.4(COL5A1):c.193C>T (p.Arg65Trp) rs139468527
NM_000093.4(COL5A1):c.2031G>A (p.Glu677=) rs61737719
NM_000093.4(COL5A1):c.2096C>T (p.Thr699Met) rs142313124
NM_000093.4(COL5A1):c.2724G>A (p.Pro908=) rs41310207
NM_000093.4(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966
NM_000093.4(COL5A1):c.2892C>T (p.Gly964=) rs78511105
NM_000093.4(COL5A1):c.341C>A (p.Ala114Asp) rs147589613
NM_000093.4(COL5A1):c.3855C>T (p.Gly1285=) rs139544503
NM_000093.4(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509
NM_000093.4(COL5A1):c.4122G>A (p.Thr1374=) rs3827848
NM_000093.4(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195
NM_000093.4(COL5A1):c.4230+5C>T rs142248898
NM_000093.4(COL5A1):c.4230+6G>A rs77176843
NM_000093.4(COL5A1):c.4683A>C (p.Gly1561=) rs149959668
NM_000093.4(COL5A1):c.4699-6C>T rs113090154
NM_000093.4(COL5A1):c.5151C>T (p.Asp1717=) rs61729558
NM_000093.4(COL5A1):c.5190C>T (p.Phe1730=) rs61729481
NM_000093.4(COL5A1):c.5250G>A (p.Val1750=) rs200348547
NM_000093.4(COL5A1):c.5270C>T (p.Thr1757Met) rs2229817
NM_000093.4(COL5A1):c.574G>A (p.Asp192Asn) rs138579182
NM_000093.4(COL5A1):c.61C>T (p.Pro21Ser) rs548525119
NM_000093.4(COL5A1):c.850G>A (p.Glu284Lys) rs75648697
NM_000098.2(CPT2):c.353A>G (p.Asp118Gly) rs148035648
NM_000108.4(DLD):c.249T>C (p.Val83=) rs2228664
NM_000108.4(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000109.3(DMD):c.7547G>A (p.Arg2516His) rs151244052
NM_000109.3(DMD):c.8367-2A>G rs1556665303
NM_000112.3(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079
NM_000112.3(SLC26A2):c.2065A>T (p.Thr689Ser) rs3776070
NM_000112.3(SLC26A2):c.2087A>G (p.Asn696Ser) rs34351171
NM_000112.3(SLC26A2):c.655A>G (p.Ile219Val) rs35919114
NM_000112.3(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915
NM_000117.2(EMD):c.272A>G (p.Asn91Ser) rs137977232
NM_000118.3(ENG):c.1029C>T (p.Thr343=) rs3739817
NM_000118.3(ENG):c.1060C>T (p.Leu354=) rs36092484
NM_000118.3(ENG):c.120C>T (p.Gly40=) rs41522944
NM_000118.3(ENG):c.1273-5C>T rs779103881
NM_000118.3(ENG):c.1374A>G (p.Pro458=) rs34828244
NM_000118.3(ENG):c.1447G>A (p.Val483Ile) rs141330288
NM_000118.3(ENG):c.1452C>T (p.Ser484=) rs115450389
NM_000118.3(ENG):c.1455G>A (p.Glu485=) rs150456852
NM_000118.3(ENG):c.14C>T (p.Thr5Met) rs35400405
NM_000118.3(ENG):c.1510G>A (p.Val504Met) rs116330805
NM_000118.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_000118.3(ENG):c.1794T>C (p.Gly598=) rs41358947
NM_000118.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300
NM_000118.3(ENG):c.1A>G (p.Met1Val) rs1060501418
NM_000118.3(ENG):c.207G>A (p.Leu69=) rs11545664
NM_000118.3(ENG):c.219G>A (p.Thr73=) rs755348996
NM_000118.3(ENG):c.572G>A (p.Gly191Asp) rs41322046
NM_000118.3(ENG):c.617G>C (p.Gly206Ala) rs201393380
NM_000119.2(EPB42):c.-51T>C rs16957499
NM_000119.2(EPB42):c.29C>T (p.Ser10Leu) rs77809780
NM_000119.2(EPB42):c.420G>A (p.Ala140=) rs1042168
NM_000119.2(EPB42):c.923-4A>G rs61343376
NM_000132.3(F8):c.*29C>T rs5986887
NM_000132.3(F8):c.1086G>A (p.Ala362=) rs1800289
NM_000132.3(F8):c.1648C>G (p.Arg550Gly) rs137852417
NM_000132.3(F8):c.1660A>G (p.Ser554Gly) rs137852419
NM_000132.3(F8):c.2947G>A (p.Val983Ile) rs35295375
NM_000132.3(F8):c.4500G>A (p.Pro1500=) rs33921347
NM_000133.3(F9):c.1110G>A (p.Gln370=) rs34698779
NM_000133.3(F9):c.224G>A (p.Arg75Gln) rs137852228
NM_000133.3(F9):c.580A>G (p.Thr194Ala) rs6048
NM_000135.2(FANCA):c.1143G>T (p.Thr381=) rs1800331
NM_000135.2(FANCA):c.1235C>T (p.Ala412Val) rs11646374
NM_000135.2(FANCA):c.17T>A (p.Val6Asp) rs1800282
NM_000135.2(FANCA):c.1874G>C (p.Cys625Ser) rs139235751
NM_000135.2(FANCA):c.1927C>G (p.Pro643Ala) rs17232910
NM_000135.2(FANCA):c.2779-7T>C rs17233253
NM_000135.2(FANCA):c.2901C>T (p.Ser967=) rs17226980
NM_000135.2(FANCA):c.3067-4T>C rs17227064
NM_000135.2(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497
NM_000135.2(FANCA):c.3348+18A>G rs1800347
NM_000135.2(FANCA):c.3654A>G (p.Pro1218=) rs1800358
NM_000135.2(FANCA):c.3807G>C (p.Leu1269=) rs11649210
NM_000135.2(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681
NM_000135.2(FANCA):c.894-8A>G rs11648881
NM_000135.3(FANCA):c.1226-2A>G rs773906241
NM_000136.2(FANCC):c.1345G>A (p.Val449Met) rs1800367
NM_000138.4(FBN1):c.-35C>T rs199781948
NM_000138.4(FBN1):c.1027G>A (p.Gly343Arg) rs146726731
NM_000138.4(FBN1):c.1029G>A (p.Gly343=) rs75655780
NM_000138.4(FBN1):c.1371C>G (p.Arg457=) rs25436
NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.4(FBN1):c.1746C>T (p.Cys582=) rs112366266
NM_000138.4(FBN1):c.185G>A (p.Arg62His) rs145942328
NM_000138.4(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.4(FBN1):c.2148A>G (p.Gly716=) rs141039922
NM_000138.4(FBN1):c.2858delT (p.Ile953Thrfs) rs1555398836
NM_000138.4(FBN1):c.2895G>A (p.Glu965=) rs140591
NM_000138.4(FBN1):c.2934C>G (p.Asp978Glu) rs138438849
NM_000138.4(FBN1):c.306C>T (p.Cys102=) rs25388
NM_000138.4(FBN1):c.3082+8delG rs193922196
NM_000138.4(FBN1):c.3217G>A (p.Glu1073Lys) rs137854478
NM_000138.4(FBN1):c.3294C>T (p.Asp1098=) rs140587
NM_000138.4(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.4(FBN1):c.3797A>T (p.Tyr1266Phe) rs200283837
NM_000138.4(FBN1):c.3965-8T>C rs140637
NM_000138.4(FBN1):c.4214T>G (p.Leu1405Arg) rs767606368
NM_000138.4(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054
NM_000138.4(FBN1):c.4460-8G>A rs193922204
NM_000138.4(FBN1):c.4905C>G (p.Thr1635=) rs113115949
NM_000138.4(FBN1):c.510C>T (p.Tyr170=) rs111671429
NM_000138.4(FBN1):c.5343G>A (p.Val1781=) rs140649
NM_000138.4(FBN1):c.6052G>A (p.Val2018Ile) rs363802
NM_000138.4(FBN1):c.6073G>T (p.Ala2025Ser) rs113577372
NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.4(FBN1):c.6393C>T (p.Cys2131=) rs61730051
NM_000138.4(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_000138.4(FBN1):c.6487G>T (p.Glu2163Ter) rs1555395191
NM_000138.4(FBN1):c.6594C>T (p.Pro2198=) rs111844882
NM_000138.4(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.4(FBN1):c.6661T>C (p.Cys2221Arg) rs113543334
NM_000138.4(FBN1):c.6681A>C (p.Ser2227=) rs363824
NM_000138.4(FBN1):c.6705A>C (p.Gly2235=) rs2229326
NM_000138.4(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228
NM_000138.4(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.4(FBN1):c.7039_7040delAT (p.Met2347Valfs) rs794728319
NM_000138.4(FBN1):c.7072G>A (p.Val2358Ile) rs140537304
NM_000138.4(FBN1):c.7098C>T (p.Asp2366=) rs1005074
NM_000138.4(FBN1):c.7346A>G (p.Asn2449Ser) rs146166400
NM_000138.4(FBN1):c.7617C>T (p.Gly2539=) rs1388794275
NM_000138.4(FBN1):c.7656C>A (p.Cys2552Ter) rs1555394195
NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_000138.4(FBN1):c.783T>C (p.Asn261=) rs113721547
NM_000138.4(FBN1):c.7994A>G (p.Asn2665Ser) rs763173031
NM_000138.4(FBN1):c.8149G>A (p.Glu2717Lys) rs187553035
NM_000138.4(FBN1):c.8283A>T (p.Thr2761=) rs146120912
NM_000138.4(FBN1):c.8502T>C (p.Thr2834=) rs363847
NM_000138.4(FBN1):c.986T>C (p.Ile329Thr) rs12324002
NM_000141.4(FGFR2):c.159G>A (p.Ala53=) rs1047102
NM_000141.4(FGFR2):c.23T>G (p.Ile8Ser) rs147307031
NM_000142.4(FGFR3):c.1108G>T (p.Gly370Cys) rs121913479
NM_000142.4(FGFR3):c.1111A>T (p.Ser371Cys) rs121913484
NM_000142.4(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.4(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.4(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656
NM_000142.4(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104
NM_000142.4(FGFR3):c.1620C>A (p.Asn540Lys) rs28933068
NM_000142.4(FGFR3):c.393G>A (p.Ser131=) rs55662109
NM_000142.4(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000143.3(FH):c.53C>T (p.Pro18Leu) rs201887750
NM_000144.4(FXN):c.118C>T (p.Arg40Cys) rs145854903
NM_000144.4(FXN):c.54A>G (p.Pro18=) rs2481598
NM_000152.4(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000153.3(GALC):c.956A>G (p.Tyr319Cys) rs183105855
NM_000155.3(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.3(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000155.3(GALT):c.512T>C (p.Phe171Ser) rs111033715
NM_000155.3(GALT):c.652C>T (p.Leu218=) rs2070075
NM_000155.3(GALT):c.772C>T (p.Arg258Cys) rs368166217
NM_000155.3(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.3(GALT):c.876G>A (p.Thr292=) rs1055607
NM_000155.3(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000155.3(GALT):c.945T>C (p.His315=) rs61735982
NM_000156.5(GAMT):c.503A>C (p.Tyr168Ser) rs1131691644
NM_000156.5(GAMT):c.626C>T (p.Thr209Met) rs17851582
NM_000158.3(GBE1):c.176T>C (p.Ile59Thr) rs28763904
NM_000166.5(GJB1):c.83T>A (p.Ile28Asn) rs768834663
NM_000168.5(GLI3):c.1243-40A>C rs77659679
NM_000168.5(GLI3):c.3208A>T (p.Thr1070Ser) rs150907867
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000179.2(MSH6):c.-8C>T rs565211544
NM_000179.2(MSH6):c.116G>A (p.Gly39Glu) rs1042821
NM_000179.2(MSH6):c.1186C>G (p.Leu396Val) rs2020908
NM_000179.2(MSH6):c.1508C>G (p.Ser503Cys) rs63750897
NM_000179.2(MSH6):c.1526T>C (p.Val509Ala) rs63751005
NM_000179.2(MSH6):c.186C>A (p.Arg62=) rs1042820
NM_000179.2(MSH6):c.2253T>C (p.Asn751=) rs2020913
NM_000179.2(MSH6):c.2314C>A (p.Arg772=) rs63750138
NM_000179.2(MSH6):c.260+10T>G rs193922342
NM_000179.2(MSH6):c.261-36A>G rs1800931
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
NM_000179.2(MSH6):c.276A>G (p.Pro92=) rs1800932
NM_000179.2(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.2(MSH6):c.3306T>A (p.Thr1102=) rs2020910
NM_000179.2(MSH6):c.3438+14A>T rs2020911
NM_000179.2(MSH6):c.3439-2A>G rs267608098
NM_000179.2(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000179.2(MSH6):c.540T>C (p.Asp180=) rs1800935
NM_000179.2(MSH6):c.642C>T (p.Tyr214=) rs1800937
NM_000179.2(MSH6):c.663A>C (p.Glu221Asp) rs41557217
NM_000182.4(HADHA):c.589G>T (p.Ala197Ser) rs116320983
NM_000193.3(SHH):c.630C>T (p.Gly210=) rs9333634
NM_000203.4(IDUA):c.314G>A (p.Arg105Gln) rs3755955
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688
NM_000215.3(JAK3):c.2164G>A (p.Val722Ile) rs3213409
NM_000218.2(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457
NM_000218.2(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.2(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500
NM_000218.2(KCNQ1):c.720C>T (p.His240=) rs28730754
NM_000219.5(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000238.3(KCNH2):c.1467C>T (p.Ile489=) rs740952
NM_000238.3(KCNH2):c.1471G>A (p.Val491Ile) rs374376640
NM_000238.3(KCNH2):c.2690A>C (p.Lys897Thr) rs1805123
NM_000238.3(KCNH2):c.2863C>G (p.Leu955Val) rs199473012
NM_000238.3(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375
NM_000238.3(KCNH2):c.542G>A (p.Arg181Gln) rs41308954
NM_000243.2(MEFV):c.*9C>T rs11466048
NM_000243.2(MEFV):c.1043G>A (p.Arg348His) rs104895198
NM_000243.2(MEFV):c.1092G>T (p.Pro364=) rs11466022
NM_000243.2(MEFV):c.1105C>T (p.Pro369Ser) rs11466023
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000243.2(MEFV):c.124C>T (p.Arg42Trp) rs61754767
NM_000243.2(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.2(MEFV):c.1422G>A (p.Glu474=) rs224208
NM_000243.2(MEFV):c.1428A>G (p.Gln476=) rs224207
NM_000243.2(MEFV):c.1467G>A (p.Gln489=) rs61732424
NM_000243.2(MEFV):c.1518C>T (p.Ile506=) rs104895099
NM_000243.2(MEFV):c.1530T>C (p.Asp510=) rs224206
NM_000243.2(MEFV):c.1587+33C>G rs146820856
NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr) rs11466045
NM_000243.2(MEFV):c.1803T>A (p.Ile601=) rs779572391
NM_000243.2(MEFV):c.2080A>G (p.Met694Val) rs61752717
NM_000243.2(MEFV):c.2082G>A (p.Met694Ile) rs28940578
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.2118G>A (p.Pro706=) rs2234939
NM_000243.2(MEFV):c.2177T>C (p.Val726Ala) rs28940579
NM_000243.2(MEFV):c.2230G>T rs61732874
NM_000243.2(MEFV):c.2282G>A (p.Arg761His) rs104895097
NM_000243.2(MEFV):c.306T>C (p.Asp102=) rs224225
NM_000243.2(MEFV):c.329T>C (p.Leu110Pro) rs11466018
NM_000243.2(MEFV):c.333G>A (p.Gly111=) rs61732425
NM_000243.2(MEFV):c.372C>T (p.Pro124=) rs104895078
NM_000243.2(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000243.2(MEFV):c.42G>A (p.Glu14=) rs113314808
NM_000243.2(MEFV):c.442G>C (p.Glu148Gln) rs3743930
NM_000243.2(MEFV):c.495C>A (p.Ala165=) rs224223
NM_000243.2(MEFV):c.501G>C (p.Glu167Asp) rs104895079
NM_000243.2(MEFV):c.549G>A (p.Pro183=) rs587781035
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.910G>A (p.Gly304Arg) rs75977701
NM_000243.2(MEFV):c.942C>T (p.Arg314=) rs224213
NM_000244.3(MEN1):c.1269C>T (p.Asp423=) rs2071313
NM_000244.3(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_000245.3(MET):c.2908C>T (p.Arg970Cys) rs34589476
NM_000245.3(MET):c.504G>T (p.Glu168Asp) rs55985569
NM_000245.3(MET):c.948A>G (p.Ile316Met) rs35225896
NM_000249.3(MLH1):c.1321G>A (p.Ala441Thr) rs63750365
NM_000249.3(MLH1):c.1360G>C (p.Gly454Arg) rs63750527
NM_000249.3(MLH1):c.1517T>C (p.Val506Ala) rs63749909
NM_000249.3(MLH1):c.1668-19A>G rs9876116
NM_000249.3(MLH1):c.1852_1853delAAinsGC (p.Lys618Ala) rs35502531
NM_000249.3(MLH1):c.2152C>T (p.His718Tyr) rs2020873
NM_000249.3(MLH1):c.244A>G (p.Thr82Ala) rs587778998
NM_000249.3(MLH1):c.375A>G (p.Ala125=) rs1800144
NM_000249.3(MLH1):c.637G>A (p.Val213Met) rs2308317
NM_000249.3(MLH1):c.655A>G (p.Ile219Val) rs1799977
NM_000249.3(MLH1):c.977T>C (p.Val326Ala) rs63751049
NM_000251.2(MSH2):c.-68-34T>C rs17217709
NM_000251.2(MSH2):c.1077-10T>C rs17224360
NM_000251.2(MSH2):c.1275A>G (p.Glu425=) rs63751650
NM_000251.2(MSH2):c.1511-9A>T rs12998837
NM_000251.2(MSH2):c.1661+12G>A rs3732183
NM_000251.2(MSH2):c.1666T>C (p.Leu556=) rs61756466
NM_000251.2(MSH2):c.2006-6T>C rs2303428
NM_000251.2(MSH2):c.211+9C>G rs2303426
NM_000251.2(MSH2):c.2634+1G>A rs267608019
NM_000251.2(MSH2):c.380A>G (p.Asn127Ser) rs17217772
NM_000251.2(MSH2):c.382C>G (p.Leu128Val) rs145649774
NM_000251.2(MSH2):c.4G>A (p.Ala2Thr) rs63750466
NM_000251.2(MSH2):c.573C>T (p.Leu191=) rs1800151
NM_000251.2(MSH2):c.646-11T>C rs879254124
NM_000251.2(MSH2):c.965G>A (p.Gly322Asp) rs4987188
NM_000254.2(MTR):c.2815G>C (p.Gly939Arg) rs113042166
NM_000254.2(MTR):c.940G>A (p.Asp314Asn) rs2229274
NM_000255.3(MMUT):c.1495G>A (p.Ala499Thr) rs2229385
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val) rs3729952
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470
NM_000256.3(MYBPC3):c.3285G>A (p.Thr1095=) rs367927327
NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=) rs1052373
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989
NM_000257.3(MYH7):c.2183C>T (p.Ala728Val) rs121913644
NM_000257.3(MYH7):c.5361A>G (p.Glu1787=) rs201171029
NM_000257.3(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) rs141764279
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700
NM_000258.2(MYL3):c.427G>A (p.Glu143Lys) rs104893750
NM_000260.3(MYO7A):c.2886G>C (p.Gln962His) rs200641606
NM_000260.3(MYO7A):c.4619C>T (p.Ala1540Val) rs111033511
NM_000260.3(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410
NM_000260.3(MYO7A):c.6240C>T (p.Ser2080=) rs41298757
NM_000260.3(MYO7A):c.6318G>A (p.Lys2106=) rs11237123
NM_000260.3(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_000264.3(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564
NM_000264.4(PTCH1):c.1686C>T (p.Ala562=) rs2066836
NM_000264.4(PTCH1):c.1913G>A (p.Arg638His) rs145766839
NM_000264.4(PTCH1):c.318C>T (p.Leu106=) rs1805153
NM_000267.3(NF1):c.1429T>C (p.Phe477Leu) rs1555612276
NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557
NM_000267.3(NF1):c.1660C>T (p.Gln554Ter) rs953440640
NM_000267.3(NF1):c.1846-12A>T rs188510882
NM_000267.3(NF1):c.2252-34T>C rs200937398
NM_000267.3(NF1):c.3974+9T>A rs368586596
NM_000267.3(NF1):c.4537C>T (p.Arg1513Ter) rs760703505
NM_000267.3(NF1):c.4972A>G (p.Ile1658Val) rs147327414
NM_000267.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_000267.3(NF1):c.5425C>G (p.Arg1809Gly) rs797045139
NM_000267.3(NF1):c.5717delT (p.Leu1906Trpfs) rs1135402880
NM_000267.3(NF1):c.61-4delT rs551568608
NM_000267.3(NF1):c.731-6A>C rs369366499
NM_000267.3(NF1):c.7908-8delT rs564545012
NM_000267.3(NF1):c.980T>C (p.Leu327Pro) rs201624827
NM_000271.4(NPC1):c.709C>T (p.Pro237Ser) rs80358251
NM_000288.3(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000289.5(PFKM):c.1338G>A (p.Gly446=) rs150378513
NM_000289.5(PFKM):c.246G>A (p.Thr82=) rs2228501
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971
NM_000296.3(PKD1):c.10616G>C (p.Gly3539Ala) rs201409107
NM_000296.3(PKD1):c.11012G>A (p.Arg3671Gln) rs201220835
NM_000296.3(PKD1):c.12688C>T (p.Gln4230Ter)
NM_000296.3(PKD1):c.2180T>C (p.Leu727Pro)
NM_000296.3(PKD1):c.3496G>A (p.Gly1166Ser) rs573566419
NM_000296.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481
NM_000296.3(PKD1):c.8111C>T (p.Ala2704Val) rs200509641
NM_000296.3(PKD1):c.8305C>T (p.Leu2769Phe) rs771382752
NM_000296.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204
NM_000296.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099
NM_000297.3(PKD2):c.1546G>T (p.Val516Leu) rs143581690
NM_000297.3(PKD2):c.1830G>A (p.Ala610=) rs144968710
NM_000297.3(PKD2):c.2295T>C (p.Asp765=) rs138982773
NM_000297.3(PKD2):c.2411G>A (p.Ser804Asn) rs145343957
NM_000297.3(PKD2):c.420G>A (p.Gly140=) rs2728118
NM_000297.3(PKD2):c.444C>T (p.Gly148=) rs181704860
NM_000297.3(PKD2):c.568G>A (p.Ala190Thr) rs117078377
NM_000297.3(PKD2):c.570G>T (p.Ala190=) rs541702320
NM_000297.3(PKD2):c.83G>C (p.Arg28Pro) rs1805044
NM_000297.3:c.2208_2213delAAACTT
NM_000298.5(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000302.3(PLOD1):c.1023C>T (p.Gly341=) rs755056846
NM_000302.3(PLOD1):c.1632A>C (p.Ala544=) rs2230898
NM_000302.3(PLOD1):c.1927G>A (p.Val643Ile) rs149425237
NM_000302.3(PLOD1):c.2124T>C (p.His708=) rs879690
NM_000302.3(PLOD1):c.2133C>G (p.Leu711=) rs879691
NM_000302.3(PLOD1):c.250G>A (p.Ala84Thr) rs34878020
NM_000302.3(PLOD1):c.303C>T (p.Ser101=) rs147980436
NM_000302.3(PLOD1):c.555G>T (p.Lys185Asn) rs142978362
NM_000302.3(PLOD1):c.564G>C (p.Leu188Phe) rs201888323
NM_000304.3(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000314.6(PTEN):c.132C>T (p.Gly44=) rs150651961
NM_000314.6(PTEN):c.165-13_165-10delGTTT rs786204877
NM_000314.6(PTEN):c.388C>T (p.Arg130Ter) rs121909224
NM_000314.6(PTEN):c.634+5G>C rs138336847
NM_000314.6(PTEN):c.78C>T (p.Thr26=) rs786201280
NM_000314.6(PTEN):c.802-3delT rs34003473
NM_000314.6(PTEN):c.802-51_802-14del38 rs557364463
NM_000314.7(PTEN):c.-1084C>T rs538728843
NM_000314.7(PTEN):c.-246C>T rs886047393
NM_000321.2(RB1):c.1390-14A>T rs9535023
NM_000335.4(SCN5A):c.5504T>C (p.Ile1835Thr) rs45563942
NM_000335.4(SCN5A):c.5958C>A (p.Asn1986Lys) rs199473335
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031
NM_000342.3(SLC4A1):c.1323G>A (p.Leu441=) rs5017
NM_000342.3(SLC4A1):c.166A>G (p.Lys56Glu) rs5036
NM_000342.3(SLC4A1):c.1878T>C (p.Asp626=) rs5020
NM_000342.3(SLC4A1):c.2584G>A (p.Val862Ile) rs5026
NM_000342.3(SLC4A1):c.2688T>C (p.Asp896=) rs45497993
NM_000342.3(SLC4A1):c.539G>A (p.Arg180His) rs147390654
NM_000342.3(SLC4A1):c.924G>A (p.Leu308=) rs5013
NM_000346.3(SOX9):c.-169G>A rs115615437
NM_000346.3(SOX9):c.685+8G>A rs117696751
NM_000350.2(ABCA4):c.1268A>G (p.His423Arg) rs3112831
NM_000350.2(ABCA4):c.1269C>T (p.His423=) rs4147831
NM_000350.2(ABCA4):c.2646C>T (p.Gly882=) rs180921875
NM_000350.2(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581
NM_000350.2(ABCA4):c.2964C>T (p.Leu988=) rs61754034
NM_000350.2(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.2(ABCA4):c.455G>A (p.Arg152Gln) rs62646862
NM_000350.2(ABCA4):c.5682G>C (p.Leu1894=) rs1801574
NM_000350.2(ABCA4):c.5814A>G (p.Leu1938=) rs4147857
NM_000350.2(ABCA4):c.5844A>G (p.Pro1948=) rs2275029
NM_000350.2(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641
NM_000350.2(ABCA4):c.635G>A (p.Arg212His) rs6657239
NM_000350.2(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652
NM_000355.3(TCN2):c.1196G>A (p.Arg399Gln) rs4820889
NM_000355.3(TCN2):c.265T>C (p.Phe89Leu) rs35915865
NM_000355.3(TCN2):c.562C>T (p.Gln188Ter) rs1456983114
NM_000355.3(TCN2):c.921A>C (p.Pro307=) rs138738105
NM_000364.3(TNNT2):c.853C>T (p.Arg285Cys) rs121964857
NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.4(TSC1):c.1921C>T (p.Pro641Ser) rs374222196
NM_000368.4(TSC1):c.1974C>T (p.Asp658=) rs118203608
NM_000368.4(TSC1):c.2829C>T (p.Ala943=) rs4962081
NM_000368.4(TSC1):c.965T>C (p.Met322Thr) rs1073123
NM_000371.3(TTR):c.*21C>A rs12226
NM_000371.3(TTR):c.239C>T (p.Thr80Ile)
NM_000371.3(TTR):c.250T>C (p.Phe84Leu) rs121918091
NM_000371.3(TTR):c.265T>C (p.Tyr89His) rs121918100
NM_000371.3(TTR):c.355G>A (p.Asp119Asn) rs76410435
NM_000371.3(TTR):c.360C>T (p.Ser120=) rs150127220
NM_000371.3(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000371.3(TTR):c.416C>T (p.Thr139Met) rs28933981
NM_000381.3(MID1):c.2000C>T (p.Pro667Leu) rs147106995
NM_000393.3(COL5A2):c.1081A>C (p.Met361Leu) rs76148000
NM_000393.3(COL5A2):c.1301C>T (p.Thr434Met) rs145850743
NM_000393.3(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636
NM_000393.3(COL5A2):c.1400C>T (p.Pro467Leu) rs115570272
NM_000393.3(COL5A2):c.198T>C (p.Asn66=) rs76511879
NM_000393.3(COL5A2):c.2423C>T (p.Pro808Leu) rs575864379
NM_000393.3(COL5A2):c.2562C>T (p.Asp854=) rs148430780
NM_000393.3(COL5A2):c.261G>A (p.Thr87=) rs142044596
NM_000393.3(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175
NM_000393.3(COL5A2):c.3690A>C (p.Thr1230=) rs10197596
NM_000393.3(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525
NM_000393.3(COL5A2):c.75A>G (p.Lys25=) rs549894501
NM_000393.4(COL5A2):c.1535T>C (p.Val512Ala) rs35852101
NM_000393.4(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748
NM_000393.4(COL5A2):c.906+10A>T rs776578452
NM_000399.3(EGR2):c.1226G>A (p.Arg409Gln) rs864622273
NM_000402.4(G6PD):c.1058T>C (p.Leu353Pro) rs76723693
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.1268G>A (p.Arg423His) rs137852316
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
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.466A>G (p.Asn156Asp) rs1050829
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.934G>C (p.Asp312His) rs137852318
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327
NM_000414.3(HSD17B4):c.1280C>T (p.Ala427Val) rs28943590
NM_000414.3(HSD17B4):c.1317A>G (p.Val439=) rs771922933
NM_000431.3(MVK):c.1139A>G (p.His380Arg) rs104895324
NM_000431.3(MVK):c.155G>A (p.Ser52Asn) rs7957619
NM_000431.3(MVK):c.238G>A (p.Val80Ile) rs76914224
NM_000431.3(MVK):c.371+8C>T rs67886029
NM_000431.3(MVK):c.381G>A (p.Pro127=) rs140397628
NM_000431.3(MVK):c.405G>A (p.Ser135=) rs34368092
NM_000431.3(MVK):c.510C>T (p.Asp170=) rs2287218
NM_000431.3(MVK):c.769-7T>G rs104895331
NM_000431.3(MVK):c.831C>T (p.Arg277=) rs104895353
NM_000431.3(MVK):c.924C>T (p.Leu308=) rs72648042
NM_000436.3(OXCT1):c.173C>T (p.Thr58Met) rs75134564
NM_000436.3(OXCT1):c.79-11delT rs748715820
NM_000441.1(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212
NM_000441.1(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243
NM_000441.1(SLC26A4):c.1226G>A (p.Arg409His) rs111033305
NM_000441.1(SLC26A4):c.1541A>G (p.Gln514Arg) rs111033316
NM_000441.1(SLC26A4):c.1545-5T>G rs77944876
NM_000441.1(SLC26A4):c.17G>T (p.Gly6Val) rs111033423
NM_000441.1(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335
NM_000441.1(SLC26A4):c.2168A>G (p.His723Arg) rs121908362
NM_000441.1(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353
NM_000441.1(SLC26A4):c.279delT (p.Ser93Argfs) rs786204421
NM_000441.1(SLC26A4):c.349C>T rs145254330
NM_000441.1(SLC26A4):c.706C>G (p.Leu236Val) rs111033242
NM_000441.1(SLC26A4):c.796G>A (p.Asp266Asn) rs138462416
NM_000441.1(SLC26A4):c.84C>A (p.Ser28Arg) rs539699299
NM_000448.2(RAG1):c.2880A>G (p.Ala960=) rs1980131
NM_000455.4(STK11):c.1062C>G (p.Phe354Leu) rs59912467
NM_000455.4(STK11):c.1167C>G (p.Ala389=) rs547919101
NM_000455.4(STK11):c.1211C>T (p.Ser404Phe) rs200078204
NM_000455.4(STK11):c.816C>T (p.Tyr272=) rs9282859
NM_000455.4(STK11):c.945G>A (p.Pro315=) rs376329042
NM_000459.4(TEK):c.902-10C>T rs41272241
NM_000463.2(UGT1A1):c.-53_-52TA[6] rs3064744
NM_000463.2(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978
NM_000463.2(UGT1A1):c.674T>G (p.Val225Gly) rs35003977
NM_000465.3(BARD1):c.1134G>C (p.Arg378Ser) rs2229571
NM_000465.3(BARD1):c.1518T>C (p.His506=) rs2070093
NM_000465.3(BARD1):c.1519G>A (p.Val507Met) rs2070094
NM_000465.3(BARD1):c.1738G>A (p.Glu580Lys) rs35306212
NM_000465.3(BARD1):c.1977A>G (p.Arg659=) rs147215925
NM_000465.3(BARD1):c.2212A>G (p.Ile738Val) rs61754118
NM_000465.3(BARD1):c.70C>T (p.Pro24Ser) rs1048108
NM_000478.4(ALPL):c.1565T>C (p.Val522Ala) rs34605986
NM_000478.5(ALPL):c.455G>A (p.Arg152His) rs149344982
NM_000478.5(ALPL):c.472+12delG rs35423948
NM_000492.3(CFTR):c.-4G>C rs369326781
NM_000492.3(CFTR):c.-8G>C rs1800501
NM_000492.3(CFTR):c.1001G>A (p.Arg334Gln) rs397508137
NM_000492.3(CFTR):c.1040G>A (p.Arg347His) rs77932196
NM_000492.3(CFTR):c.1043T>A (p.Met348Lys) rs142920240
NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) rs121909021
NM_000492.3(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.3(CFTR):c.1054C>T (p.Arg352Trp) rs193922497
NM_000492.3(CFTR):c.1210-11T>G rs73715573
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1210-13G>T rs10229820
NM_000492.3(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
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.1523T>G (p.Phe508Cys) rs74571530
NM_000492.3(CFTR):c.1581A>G (p.Glu527=) rs1800094
NM_000492.3(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.3(CFTR):c.1601C>A (p.Ala534Glu) rs387906368
NM_000492.3(CFTR):c.1624G>T (p.Gly542Ter) rs113993959
NM_000492.3(CFTR):c.1652G>A (p.Gly551Asp) rs75527207
NM_000492.3(CFTR):c.1666A>G (p.Ile556Val) rs75789129
NM_000492.3(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.3(CFTR):c.1684G>C (p.Val562Leu) rs1800097
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.3(CFTR):c.1920T>C (p.Phe640=) rs145877746
NM_000492.3(CFTR):c.1A>G (p.Met1Val) rs397508328
NM_000492.3(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.3(CFTR):c.2055A>G (p.Gln685=)
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.3(CFTR):c.2245C>T (p.Leu749=) rs151235408
NM_000492.3(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.3(CFTR):c.2260G>A (p.Val754Met) rs150157202
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.2562T>G (p.Thr854=) rs1042077
NM_000492.3(CFTR):c.2620-15C>G rs139379077
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000492.3(CFTR):c.274-6T>C rs371315549
NM_000492.3(CFTR):c.2758G>A (p.Val920Met) rs373885282
NM_000492.3(CFTR):c.2855T>C (p.Met952Thr) rs142773283
NM_000492.3(CFTR):c.2898G>A (p.Thr966=) rs1800109
NM_000492.3(CFTR):c.2900T>C (p.Leu967Ser) rs1800110
NM_000492.3(CFTR):c.2930C>T (p.Ser977Phe) rs141033578
NM_000492.3(CFTR):c.293A>G (p.Gln98Arg) rs397508464
NM_000492.3(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000492.3(CFTR):c.3067_3072delATAGTG (p.Ile1023_Val1024del) rs121908767
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.3154T>G (p.Phe1052Val) rs150212784
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.3209G>A (p.Arg1070Gln) rs78769542
NM_000492.3(CFTR):c.3285A>T (p.Thr1095=) rs1800118
NM_000492.3(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.3(CFTR):c.3469-17T>C rs199630678
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.3(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.3(CFTR):c.3558A>G (p.Gln1186=) rs1800121
NM_000492.3(CFTR):c.3659C>T (p.Thr1220Ile) rs1800123
NM_000492.3(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792
NM_000492.3(CFTR):c.374T>C (p.Ile125Thr) rs141723617
NM_000492.3(CFTR):c.3789T>C (p.Thr1263=) rs200921635
NM_000492.3(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000492.3(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898
NM_000492.3(CFTR):c.3870A>G (p.Pro1290=) rs1800130
NM_000492.3(CFTR):c.3897A>G (p.Thr1299=) rs1800131
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4056G>T (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4242+13A>G rs76179227
NM_000492.3(CFTR):c.4243-35delT rs193922527
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.4389G>A (p.Gln1463=) rs1800136
NM_000492.3(CFTR):c.443T>C (p.Ile148Thr) rs35516286
NM_000492.3(CFTR):c.577G>T (p.Glu193Ter) rs397508759
NM_000492.3(CFTR):c.595C>T (p.His199Tyr) rs121908802
NM_000492.3(CFTR):c.601G>A (p.Val201Met) rs138338446
NM_000492.3(CFTR):c.617T>G (p.Leu206Trp) rs121908752
NM_000492.3(CFTR):c.744-13_744-6delGATTGATT rs1805171
NM_000492.3(CFTR):c.794T>G (p.Met265Arg) rs148519623
NM_000492.3(CFTR):c.846A>T (p.Glu282Asp) rs142864834
NM_000492.3(CFTR):c.869+11C>T rs1800503
NM_000492.3(CFTR):c.890G>A (p.Arg297Gln) rs143486492
NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) rs1800073
NM_000512.4(GALNS):c.692C>G (p.Ala231Gly) rs34745339
NM_000517.4(HBA2):c.*103G>A rs1363099908
NM_000517.4(HBA2):c.*98T>C rs1455865276
NM_000517.4(HBA2):c.142G>C (p.Asp48His) rs281864834
NM_000517.4(HBA2):c.300+64A>G rs111264741
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951
NM_000517.4(HBA2):c.95+27C>T rs558457816
NM_000517.6(HBA2):c.*92A>G rs63750067
NM_000517.6(HBA2):c.237C>A (p.Asn79Lys)
NM_000517.6(HBA2):c.257A>T (p.Asp86Val) rs41331747
NM_000518.4(HBB):c.*56A>G rs537944366
NM_000518.4(HBB):c.137T>C (p.Phe46Ser) rs33978338
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886
NM_000518.4(HBB):c.157G>C (p.Asp53His) rs33961886
NM_000518.4(HBB):c.184A>G (p.Lys62Glu) rs33995148
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165
NM_000518.4(HBB):c.220G>A (p.Asp74Asn) rs33945705
NM_000518.4(HBB):c.238G>A (p.Asp80Asn) rs33990858
NM_000518.4(HBB):c.23A>G (p.Glu8Gly) rs34387455
NM_000518.4(HBB):c.246C>A (p.Leu82=) rs145669504
NM_000518.4(HBB):c.266T>C (p.Leu89Pro) rs33940204
NM_000518.4(HBB):c.271G>A (p.Glu91Lys) rs33913712
NM_000518.4(HBB):c.275T>C (p.Leu92Pro) rs33917785
NM_000518.4(HBB):c.294C>T (p.His98=) rs34515413
NM_000518.4(HBB):c.29C>G (p.Ser10Cys) rs33918131
NM_000518.4(HBB):c.34G>A (p.Val12Ile) rs33974228
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.4(HBB):c.364G>C (p.Glu122Gln) rs33946267
NM_000518.4(HBB):c.371C>T (p.Thr124Ile) rs33935383
NM_000518.4(HBB):c.394C>G (p.Gln132Glu) rs33910209
NM_000518.4(HBB):c.410G>A (p.Gly137Asp) rs33949486
NM_000518.4(HBB):c.422C>A (p.Ala141Asp) rs33927093
NM_000518.4(HBB):c.67G>A (p.Glu23Lys) rs33959855
NM_000518.4(HBB):c.67G>C (p.Glu23Gln) rs33959855
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254
NM_000518.4(HBB):c.68A>G (p.Glu23Gly) rs33936254
NM_000518.5(HBB):c.*96T>C rs34029390
NM_000518.5(HBB):c.-31C>T rs63750628
NM_000518.5(HBB):c.114G>A (p.Trp38Ter) rs33974936
NM_000518.5(HBB):c.122G>A (p.Arg41Lys) rs34831026
NM_000518.5(HBB):c.128T>C (p.Phe43Ser) rs34378160
NM_000518.5(HBB):c.131A>C (p.Glu44Ala) rs35262412
NM_000518.5(HBB):c.16C>T (p.Pro6Ser) rs33912272
NM_000518.5(HBB):c.170G>A (p.Gly57Asp) rs34439278
NM_000518.5(HBB):c.174C>A (p.Asn58Lys) rs35278874
NM_000518.5(HBB):c.179A>C (p.Lys60Thr) rs35537181
NM_000518.5(HBB):c.200A>C (p.Lys67Thr) rs35939489
NM_000518.5(HBB):c.209G>A (p.Gly70Asp) rs34718174
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000518.5(HBB):c.262A>C (p.Thr88Pro) rs35553496
NM_000518.5(HBB):c.286A>G (p.Lys96Glu) rs33914359
NM_000518.5(HBB):c.2T>C (p.Met1Thr) rs33941849
NM_000518.5(HBB):c.314G>C (p.Arg105Thr) rs33911434
NM_000518.5(HBB):c.316-238C>T rs558554234
NM_000518.5(HBB):c.324C>T (p.Gly108=) rs193922562
NM_000518.5(HBB):c.328G>A (p.Val110Met) rs33969677
NM_000518.5(HBB):c.353A>G (p.His118Arg) rs33935673
NM_000518.5(HBB):c.359G>A (p.Gly120Asp) rs33947020
NM_000518.5(HBB):c.363A>C (p.Lys121Asn) rs34726542
NM_000518.5(HBB):c.380T>G (p.Val127Gly) rs33925391
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889
NM_000518.5(HBB):c.50G>A (p.Gly17Asp) rs33962676
NM_000518.5(HBB):c.5T>C (p.Val2Ala) rs33949930
NM_000518.5(HBB):c.75T>A (p.Gly25=) rs33951465
NM_000518.5(HBB):c.79G>A (p.Glu27Lys) rs33950507
NM_000518.5(HBB):c.82G>T (p.Ala28Ser) rs35424040
NM_000518.5(HBB):c.92+1G>T rs33971440
NM_000518.5(HBB):c.93-23T>C rs111851677
NM_000520.5(HEXA):c.1195A>G (p.Asn399Asp) rs1800430
NM_000520.5(HEXA):c.1306A>G (p.Ile436Val) rs1800431
NM_000520.5(HEXA):c.1518A>G (p.Glu506=) rs4777502
NM_000520.5(HEXA):c.759G>A (p.Val253=) rs117513345
NM_000520.5(HEXA):c.8G>C (p.Ser3Thr) rs374524755
NM_000520.5(HEXA):c.9C>T (p.Ser3=) rs1800428
NM_000530.6(MPZ):c.684C>T (p.Ser228=) rs34307129
NM_000531.5(OTC):c.137A>G (p.Lys46Arg) rs1800321
NM_000531.5(OTC):c.167T>C (p.Met56Thr) rs72554320
NM_000531.5(OTC):c.809A>G (p.Gln270Arg) rs1800328
NM_000531.6(OTC):c.-106C>A rs749748052
NM_000532.4(PCCB):c.683C>T (p.Pro228Leu) rs374722096
NM_000532.4(PCCB):c.815G>A (p.Arg272Gln) rs150555106
NM_000535.5(PMS2):c.*17G>C rs556089649
NM_000535.5(PMS2):c.2521delT (p.Trp841Glyfs) rs886039646
NM_000535.6(PMS2):c.1197G>A (p.Lys399=) rs757730609
NM_000535.6(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.6(PMS2):c.1408C>T (p.Pro470Ser) rs1805321
NM_000535.6(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.6(PMS2):c.1454C>A (p.Thr485Lys) rs1805323
NM_000535.6(PMS2):c.1488C>T (p.His496=) rs1805320
NM_000535.6(PMS2):c.1569C>G (p.Ser523=) rs141458772
NM_000535.6(PMS2):c.1621A= (p.Lys541=) rs2228006
NM_000535.6(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.6(PMS2):c.1866G>A (p.Met622Ile) rs1805324
NM_000535.6(PMS2):c.1A>G (p.Met1Val) rs587779333
NM_000535.6(PMS2):c.2006+6G>A rs111905775
NM_000535.6(PMS2):c.2007-7C>T rs55954143
NM_000535.6(PMS2):c.2253T>C (p.Phe751=) rs1805325
NM_000535.6(PMS2):c.2324A>G (p.Asn775Ser) rs17420802
NM_000535.6(PMS2):c.2340C>T (p.Pro780=) rs142230276
NM_000535.6(PMS2):c.2466T>C (p.Leu822=) rs10000
NM_000535.6(PMS2):c.2570G>C (p.Gly857Ala) rs1802683
NM_000535.6(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.6(PMS2):c.59G>A (p.Arg20Gln) rs10254120
NM_000535.6(PMS2):c.620G>A (p.Gly207Glu) rs374704824
NM_000535.6(PMS2):c.705+17A>G rs62456182
NM_000535.6(PMS2):c.780C>G (p.Ser260=) rs1805319
NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg) rs146848345
NM_000536.3(RAG2):c.1504A>G (p.Met502Val) rs145614809
NM_000536.3(RAG2):c.878A>G (p.Glu293Gly) rs16929093
NM_000540.2(RYR1):c.13949T>C (p.Leu4650Pro) rs118192138
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001
NM_000546.5(TP53):c.108G>A (p.Pro36=) rs1800370
NM_000546.5(TP53):c.139C>T (p.Pro47Ser) rs1800371
NM_000546.5(TP53):c.215C>G (p.Pro72Arg) rs1042522
NM_000546.5(TP53):c.28G>A (p.Val10Ile) rs535274413
NM_000546.5(TP53):c.478A>G (p.Met160Val) rs377274728
NM_000546.5(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_000546.5(TP53):c.639A>G (p.Arg213=) rs1800372
NM_000546.5(TP53):c.74+38C>G rs1642785
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.5(TP53):c.848G>A (p.Arg283His) rs371409680
NM_000548.3(TSC2):c.1100G>A (p.Arg367Gln) rs1800725
NM_000548.3(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_000548.3(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.3(TSC2):c.4536C>T (p.Asp1512=) rs35986575
NM_000548.3(TSC2):c.5202T>C (p.Asp1734=) rs1748
NM_000548.3(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000548.3(TSC2):c.948G>A (p.Pro316=) rs45517141
NM_000548.4(TSC2):c.1869C>T (p.Ala623=) rs111244727
NM_000548.4(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.4(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000548.4(TSC2):c.4809C>T (p.Asp1603=) rs147578602
NM_000548.4(TSC2):c.5161-10A>C rs1800718
NM_000551.3(VHL):c.183C>G (p.Pro61=) rs63650860
NM_000551.3(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.3(VHL):c.74C>T (p.Pro25Leu) rs35460768
NM_000552.4(VWF):c.1173A>T (p.Thr391=) rs1800375
NM_000552.4(VWF):c.1182A>C (p.Ser394=) rs1800376
NM_000552.4(VWF):c.1411G>A (p.Val471Ile) rs1800377
NM_000552.4(VWF):c.1548T>C (p.Tyr516=) rs1800379
NM_000552.4(VWF):c.1626G>A (p.Ala542=) rs35365059
NM_000552.4(VWF):c.1794C>T (p.Ala598=) rs35302737
NM_000552.4(VWF):c.2220G>A (p.Met740Ile) rs2228317
NM_000552.4(VWF):c.2365A>G (p.Thr789Ala) rs1063856
NM_000552.4(VWF):c.2385T>C (p.Tyr795=) rs1063857
NM_000552.4(VWF):c.2451T>A (p.His817Gln) rs57950734
NM_000552.4(VWF):c.3240T>C (p.Tyr1080=) rs4021576
NM_000552.4(VWF):c.3258C>T (p.Tyr1086=) rs112634786
NM_000552.4(VWF):c.3379+7A>C rs113446850
NM_000552.4(VWF):c.3579T>C (p.Pro1193=) rs16933969
NM_000552.4(VWF):c.3686T>G (p.Val1229Gly) rs61749367
NM_000552.4(VWF):c.3795G>A (p.Pro1265=) rs2228319
NM_000552.4(VWF):c.4138A>G (p.Ile1380Val) rs11063988
NM_000552.4(VWF):c.4141A>G (p.Thr1381Ala) rs216311
NM_000552.4(VWF):c.4196G>A (p.Arg1399His) rs1800382
NM_000552.4(VWF):c.4304A>G (p.Asn1435Ser) rs11063987
NM_000552.4(VWF):c.4414G>C (p.Asp1472His) rs1800383
NM_000552.4(VWF):c.4443G>T (p.Gly1481=) rs144796763
NM_000552.4(VWF):c.4641T>C (p.Thr1547=) rs216310
NM_000552.4(VWF):c.4665A>C (p.Ala1555=) rs1800384
NM_000552.4(VWF):c.4693G>T (p.Val1565Leu) rs1800385
NM_000552.4(VWF):c.4789C>T (p.Arg1597Trp) rs61750117
NM_000554.4(CRX):c.365G>A (p.Gly122Asp) rs61748441
NM_000554.5(CRX):c.196G>A (p.Val66Ile) rs61748438
NM_000558.3(HBA1):c.-42C>T rs370305736
NM_000558.3(HBA1):c.179G>A (p.Gly60Asp) rs28928878
NM_000558.3(HBA1):c.287C>T (p.Pro96Leu) rs33931314
NM_000558.3(HBA1):c.389T>C (p.Leu130Pro) rs35993655
NM_000558.4(HBA1):c.*46C>A rs141514155
NM_000558.4(HBA1):c.396T>C (p.Ser132=) rs149264789
NM_000558.5(HBA1):c.-52C>T
NM_000558.5(HBA1):c.364G>A (p.Val122Met) rs63751008
NM_000558.5(HBA1):c.47G>A (p.Gly16Asp) rs281865560
NM_000642.2(AGL):c.1759C>T (p.His587Tyr) rs139488862
NM_000709.3(BCKDHA):c.452C>T (p.Thr151Met) rs34442879
NM_000709.3(BCKDHA):c.639C>T (p.Ile213=) rs10404506
NM_000709.3(BCKDHA):c.648G>T (p.Ala216=) rs114716391
NM_000717.3(CA4):c.258C>T (p.Asn86=) rs185476073
NM_000719.6(CACNA1C):c.2449C>T (p.Pro817Ser) rs112532048
NM_000719.6(CACNA1C):c.5383G>A (p.Gly1795Arg) rs111298509
NM_000719.6(CACNA1C):c.5593G>A (p.Glu1865Lys) rs200231105
NM_000719.6(CACNA1C):c.5604A>G (p.Gln1868=) rs11062316
NM_000719.6(CACNA1C):c.5639G>A (p.Arg1880Gln) rs182208896
NM_000891.2(KCNJ2):c.1229A>G (p.Asn410Ser) rs141069645
NM_000920.3(PC):c.616G>T (p.Val206Leu) rs147945506
NM_000941.2(POR):c.1716G>A (p.Ser572=) rs1057870
NM_000941.2(POR):c.683C>T (p.Pro228Leu) rs17853284
NM_000941.2(POR):c.87G>A (p.Thr29=) rs41295381
NM_000941.3(POR):c.687C>T (p.Ala229=) rs72557906
NM_000969.5(RPL5):c.165G>A (p.Val55=) rs58263806
NM_001005360.2(DNM2):c.1902C>T (p.Asn634=) rs2229919
NM_001005360.2(DNM2):c.958G>A (p.Asp320Asn) rs150613209
NM_001005918.2(ATP7B):c.3165C>T (p.Val1055=) rs375007352
NM_001006657.1(WDR35):c.1058G>C (p.Arg353Pro) rs76623454
NM_001006657.1(WDR35):c.1788C>T (p.Val596=) rs146130105
NM_001006657.1(WDR35):c.2623G>A (p.Ala875Thr) rs267607175
NM_001006657.1(WDR35):c.2632G>A (p.Ala878Thr) rs2293669
NM_001006657.1(WDR35):c.3203A>G (p.Tyr1068Cys) rs541910371
NM_001006658.2(CR2):c.2298G>A (p.Trp766Ter) rs151093663
NM_001006658.2(CR2):c.2844G>A (p.Glu948=) rs61754518
NM_001006658.2(CR2):c.524C>T (p.Pro175Leu) rs75282758
NM_001008211.1(OPTN):c.293T>A (p.Met98Lys) rs11258194
NM_001009944.2(PKD1):c.107C>A (p.Pro36His) rs560049593
NM_001009944.2(PKD1):c.11356G>C (p.Glu3786Gln) rs147992238
NM_001009944.2(PKD1):c.12436G>A (p.Val4146Ile) rs148478410
NM_001009944.2(PKD1):c.12765C>T (p.Pro4255=) rs62038811
NM_001009944.2(PKD1):c.1710C>T (p.His570=) rs367983387
NM_001009944.2(PKD1):c.2235C>G (p.Ala745=) rs533569454
NM_001009944.2(PKD1):c.2655C>T (p.Cys885=) rs142606648
NM_001009944.2(PKD1):c.3502C>T (p.Pro1168Ser) rs146887330
NM_001009944.2(PKD1):c.4018C>T (p.Arg1340Trp) rs143690392
NM_001009944.2(PKD1):c.4264G>A (p.Ala1422Thr) rs140980374
NM_001009944.2(PKD1):c.4546G>A (p.Ala1516Thr) rs148164067
NM_001009944.2(PKD1):c.4917C>T (p.Gly1639=) rs148852027
NM_001009944.2(PKD1):c.5051C>T (p.Ser1684Leu) rs139520275
NM_001009944.2(PKD1):c.5611G>A (p.Ala1871Thr) rs144137200
NM_001009944.2(PKD1):c.5682C>T (p.Ala1894=) rs144634185
NM_001009944.2(PKD1):c.5847C>T (p.Ser1949=) rs80111665
NM_001009944.2(PKD1):c.588C>T (p.Ser196=) rs776302294
NM_001009944.2(PKD1):c.6078C>T (p.Val2026=) rs147253810
NM_001009944.2(PKD1):c.6488G>A (p.Arg2163Gln) rs145217118
NM_001009944.2(PKD1):c.6598C>T (p.Arg2200Cys) rs140869992
NM_001009944.2(PKD1):c.8020C>T (p.Pro2674Ser) rs144557371
NM_001009944.2(PKD1):c.8123C>T (p.Thr2708Met) rs147350387
NM_001009944.2(PKD1):c.8161+8G>A rs199569003
NM_001009944.2(PKD1):c.8364G>A (p.Ser2788=) rs145176597
NM_001009944.2(PKD1):c.837G>A (p.Gly279=) rs372124319
NM_001009944.2(PKD1):c.8440G>A (p.Gly2814Arg) rs149151043
NM_001009944.2(PKD1):c.9270C>T (p.Val3090=) rs149056734
NM_001009944.2(PKD1):c.9957C>T (p.Ser3319=) rs141101590
NM_001012331.1(NTRK1):c.16C>T (p.Arg6Trp) rs201472270
NM_001012331.1(NTRK1):c.1842C>T (p.Gly614=) rs6338
NM_001012331.1(NTRK1):c.2184G>A (p.Thr728=) rs55668752
NM_001012331.1(NTRK1):c.53G>A (p.Gly18Glu) rs1007211
NM_001018115.2(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247
NM_001018115.2(FANCD2):c.2124T>C (p.Phe708=) rs9809716
NM_001018115.2(FANCD2):c.2712C>T (p.Asn904=) rs35594075
NM_001024630.3(RUNX2):c.1531G>A (p.Gly511Ser) rs11498198
NM_001024630.4(RUNX2):c.254C>T (p.Ala85Val) rs372138746
NM_001029883.2(PCARE):c.1582C>T (p.Arg528Cys) rs80151896
NM_001029883.2(PCARE):c.1739C>T (p.Thr580Met) rs10166913
NM_001029883.2(PCARE):c.3739G>A (p.Gly1247Ser) rs187333111
NM_001031847.2(CPT1A):c.1770G>A (p.Glu590=) rs61731905
NM_001033855.2(DCLRE1C):c.227G>C (p.Arg76Thr) rs41296438
NM_001033857.2(DCLRE1C):c.152C>G (p.Pro51Arg) rs35441642
NM_001035.2(RYR2):c.12159G>A (p.Glu4053=) rs41267517
NM_001035.2(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512
NM_001035.2(RYR2):c.7488C>T (p.Leu2496=) rs143906555
NM_001035.2(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134
NM_001035.2(RYR2):c.8873A>G (p.Gln2958Arg) rs34967813
NM_001037.4(SCN1B):c.632G>A (p.Cys211Tyr) rs150721582
NM_001040113.1(MYH11):c.2026C>T (p.Arg676Cys) rs111404182
NM_001040113.1(MYH11):c.2914G>T (p.Ala972Ser) rs113696032
NM_001040113.1(MYH11):c.3721G>A (p.Ala1241Thr) rs16967494
NM_001040113.1(MYH11):c.3988C>T (p.Leu1330=) rs12907
NM_001040113.1(MYH11):c.444C>T (p.His148=) rs569925780
NM_001040113.1(MYH11):c.4625G>A (p.Arg1542Gln) rs137934837
NM_001040113.1(MYH11):c.5317-4C>T rs183176702
NM_001040113.1(MYH11):c.5717A>G (p.Asn1906Ser) rs79129097
NM_001040113.1(MYH11):c.760C>T (p.Arg254Cys) rs150759461
NM_001042492.2(NF1):c.168C>T (p.Ser56=) rs17881168
NM_001042492.2(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.2(NF1):c.1810T>C (p.Leu604=) rs142712751
NM_001042492.2(NF1):c.1933A>G (p.Met645Val) rs146051850
NM_001042492.2(NF1):c.2022C>T (p.Ser674=) rs2230851
NM_001042492.2(NF1):c.2034G>A (p.Pro678=) rs2285892
NM_001042492.2(NF1):c.2339C>A (p.Thr780Lys) rs199474746
NM_001042492.2(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.2(NF1):c.2544G>A (p.Gly848=) rs17883704
NM_001042492.2(NF1):c.2985G>C (p.Leu995=) rs17881467
NM_001042492.2(NF1):c.3498C>T (p.Gly1166=) rs2066733
NM_001042492.2(NF1):c.4835+36T>C rs16972128
NM_001042492.2(NF1):c.4882T>C (p.Leu1628=) rs10512435
NM_001042492.2(NF1):c.4929G>A (p.Val1643=) rs17880521
NM_001042492.2(NF1):c.5235G>A (p.Lys1745=) rs17887014
NM_001042492.2(NF1):c.6393C>T (p.His2131=) rs17881788
NM_001042492.2(NF1):c.702G>A (p.Leu234=) rs1801052
NM_001042492.2(NF1):c.7190-19_7190-8delGTTTGTTTGTTT rs149197458
NM_001042492.2(NF1):c.7461A>G (p.Thr2487=) rs149924365
NM_001042492.2(NF1):c.7755C>T (p.Ser2585=) rs17881980
NM_001042492.2(NF1):c.7910G>A (p.Arg2637Gln) rs560262404
NM_001042492.2(NF1):c.846G>A (p.Gln282=) rs138840528
NM_001042702.3(PJVK):c.86A>G (p.Asp29Gly) rs200502817
NM_001065.3(TNFRSF1A):c.224C>T (p.Pro75Leu) rs4149637
NM_001065.3(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584
NM_001065.3(TNFRSF1A):c.36A>G (p.Pro12=) rs767455
NM_001065.3(TNFRSF1A):c.625+10A>G rs1800693
NM_001065.3(TNFRSF1A):c.740-9T>C rs12426675
NM_001072.3(UGT1A6):c.862-10021T>G rs4124874
NM_001079802.1(FKTN):c.373G>A (p.Gly125Ser) rs34006675
NM_001079802.1(FKTN):c.642dupT (p.Asp215Terfs) rs398123557
NM_001080463.1(DYNC2H1):c.10163C>T (p.Pro3388Leu) rs368631447
NM_001080463.1(DYNC2H1):c.10594C>T (p.Arg3532Ter) rs181011657
NM_001080463.1(DYNC2H1):c.10855G>C (p.Asp3619His) rs116872934
NM_001080463.1(DYNC2H1):c.11724C>T (p.Asn3908=) rs144624858
NM_001080463.1(DYNC2H1):c.11747-10A>T rs185916947
NM_001080463.1(DYNC2H1):c.12275G>A (p.Arg4092His) rs115480556
NM_001080463.1(DYNC2H1):c.1757T>G (p.Val586Gly) rs864622357
NM_001080463.1(DYNC2H1):c.2860G>A (p.Glu954Lys) rs61898615
NM_001080463.1(DYNC2H1):c.3181C>G (p.Leu1061Val) rs200466720
NM_001080463.1(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840
NM_001080463.1(DYNC2H1):c.4073G>A (p.Arg1358His) rs184256941
NM_001080463.1(DYNC2H1):c.6047A>G (p.Tyr2016Cys) rs200190291
NM_001080463.1(DYNC2H1):c.6551A>T (p.Asp2184Val) rs201967064
NM_001080463.1(DYNC2H1):c.6614G>A (p.Arg2205His) rs137853031
NM_001080463.1(DYNC2H1):c.6918A>G (p.Ser2306=) rs368824340
NM_001080463.1(DYNC2H1):c.7128A>G (p.Ala2376=) rs371410128
NM_001080463.1(DYNC2H1):c.7319C>T (p.Thr2440Met) rs146569005
NM_001080463.1(DYNC2H1):c.911A>T (p.Gln304Leu) rs12146610
NM_001080463.1(DYNC2H1):c.9297T>C (p.Tyr3099=) rs180787556
NM_001080463.1(DYNC2H1):c.9814T>A (p.Leu3272Ile) rs200342335
NM_001080463.1(DYNC2H1):c.9960T>C (p.Ala3320=) rs192003811
NM_001081.3(CUBN):c.10265C>T (p.Thr3422Ile) rs1801230
NM_001081.3(CUBN):c.2756A>G (p.His919Arg) rs148869805
NM_001081.3(CUBN):c.2791+6A>C rs78549445
NM_001081.3(CUBN):c.4268C>T (p.Thr1423Met) rs483352704
NM_001081.3(CUBN):c.5098G>A (p.Asp1700Asn) rs116114483
NM_001081.3(CUBN):c.5304C>T (p.Ile1768=) rs61841454
NM_001081.3(CUBN):c.5803A>G (p.Ser1935Gly) rs41289305
NM_001081.3(CUBN):c.8950A>G (p.Ile2984Val) rs1801239
NM_001084.4(PLOD3):c.1144G>C (p.Asp382His) rs41281013
NM_001103.3(ACTN2):c.1371C>T (p.Arg457=) rs114008185
NM_001103.3(ACTN2):c.1810A>G (p.Met604Val) rs35997569
NM_001105243.1(PCDH19):c.1683G>A (p.Pro561=) rs192354176
NM_001110556.1(FLNA):c.1176G>A (p.Glu392=) rs201173693
NM_001110556.1(FLNA):c.1286C>T (p.Thr429Met) rs36051194
NM_001110556.1(FLNA):c.1429+8C>T rs202181557
NM_001110556.1(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204
NM_001110556.1(FLNA):c.3690C>T (p.Thr1230=) rs35015603
NM_001110556.1(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110556.1(FLNA):c.4866C>T (p.Tyr1622=) rs200835571
NM_001110556.1(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893
NM_001110556.1(FLNA):c.5850T>C (p.Ala1950=) rs2070825
NM_001110556.1(FLNA):c.663C>T (p.Pro221=) rs2073470
NM_001110556.1(FLNA):c.6742C>T (p.Leu2248=) rs113510895
NM_001110792.1(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001113378.1(FANCI):c.164C>T (p.Pro55Leu) rs62020347
NM_001113378.1(FANCI):c.2367G>T (p.Ala789=) rs11857960
NM_001113378.1(FANCI):c.2629A>T (p.Ile877Leu) rs35875311
NM_001113378.1(FANCI):c.3906T>C (p.Gly1302=) rs1138465
NM_001114636.1(FANCL):c.791-10dupT rs374236117
NM_001114753.2(ENG):c.1306C>T (p.Gln436Ter) rs1554809450
NM_001114753.2(ENG):c.1932C>T (p.Ile644=) rs181330955
NM_001114753.2(ENG):c.788T>A (p.Ile263Asn) rs1085307431
NM_001127493.1(ANK2):c.3483A>G (p.Val1161=) rs35336373
NM_001127500.1(MET):c.144G>A (p.Ala48=) rs11762213
NM_001128425.1(MUTYH):c.1014G>C (p.Gln338His) rs3219489
NM_001128425.1(MUTYH):c.1187G>A (p.Gly396Asp) rs36053993
NM_001128425.1(MUTYH):c.1276C>T (p.Arg426Cys) rs150792276
NM_001128425.1(MUTYH):c.1544C>T (p.Ser515Phe) rs140118273
NM_001128425.1(MUTYH):c.1548G>A (p.Pro516=) rs143796254
NM_001128425.1(MUTYH):c.64G>A (p.Val22Met) rs3219484
NM_001128425.1(MUTYH):c.696C>T (p.Thr232=) rs780747266
NM_001130067.1(TRIM2):c.996C>T (p.Gly332=) rs116558260
NM_001130089.1(KARS):c.1262G>A (p.Arg421Gln) rs149772470
NM_001130823.1(DNMT1):c.206G>A (p.Arg69His) rs61750053
NM_001130823.1(DNMT1):c.2693C>T (p.Thr898Ile) rs201213597
NM_001130823.1(DNMT1):c.4428T>G (p.His1476Gln) rs142647321
NM_001130823.1(DNMT1):c.575C>T (p.Ala192Val) rs62621089
NM_001130823.2(DNMT1):c.2382-4C>T rs74505694
NM_001134363.2(RBM20):c.1286T>C (p.Leu429Pro) rs61735272
NM_001134363.2(RBM20):c.1364C>T (p.Ser455Leu) rs189569984
NM_001134363.2(RBM20):c.1914G>A (p.Pro638=) rs74339620
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621
NM_001135599.3(TGFB2):c.114G>A (p.Glu38=) rs149215818
NM_001135599.3(TGFB2):c.272G>A (p.Arg91His) rs10482721
NM_001135599.3(TGFB2):c.703G>C (p.Val235Leu) rs10482810
NM_001135602.2(GLB1):c.913C>T (p.Leu305Phe) rs34421970
NM_001142800.1(EYS):c.1146T>C (p.Asn382=) rs974110
NM_001142800.1(EYS):c.1809C>T (p.Val603=) rs9345601
NM_001142800.1(EYS):c.359C>T (p.Thr120Met) rs12193967
NM_001142864.4(PIEZO1):c.3667G>A (p.Val1223Ile) rs185326407
NM_001143979.1(NDE1):c.948-6986C>T rs1050162
NM_001143979.1(NDE1):c.948-7025C>T rs1050163
NM_001145809.1(MYH14):c.5573G>A (p.Arg1858His) rs11882073
NM_001145809.1(MYH14):c.5868C>T (p.Ala1956=) rs190695624
NM_001148.4(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544
NM_001148.4(ANK2):c.1881+8C>G rs74976371
NM_001148.4(ANK2):c.2249A>G (p.Gln750Arg) rs371787039
NM_001148.4(ANK2):c.3543C>T (p.Ala1181=) rs76685232
NM_001148.4(ANK2):c.4152T>C (p.Asp1384=) rs116128106
NM_001148.4(ANK2):c.7488A>G (p.Thr2496=) rs143161930
NM_001148.4(ANK2):c.962G>A (p.Arg321Gln) rs150226540
NM_001148.4(ANK2):c.9854T>C (p.Ile3285Thr) rs36210417
NM_001163213.1(FGFR3):c.1626C>G (p.Asn542Lys) rs28933068
NM_001163213.1(FGFR3):c.272C>T (p.Pro91Leu) rs144995231
NM_001163817.1(DHCR7):c.25A>T (p.Ile9Phe) rs115595829
NM_001184726.1(TCN2):c.280G>A (p.Gly94Ser) rs11557600
NM_001190241.1(IFT80):c.1453G>A (p.Ala485Thr) rs138161346
NM_001190836.1(DCTN1):c.3620C>T (p.Thr1207Ile) rs72466496
NM_001195794.1(CLRN1):c.144T>G (p.Asn48Lys) rs111033258
NM_001204.6(BMPR2):c.2324G>A (p.Ser775Asn) rs2228545
NM_001204.6(BMPR2):c.545G>A (p.Gly182Asp) rs137852754
NM_001204.6(BMPR2):c.600A>C (p.Leu200=) rs55722784
NM_001235.3(SERPINH1):c.744C>T (p.Asp248=) rs61733248
NM_001243133.1(NLRP3):c.1020C>T (p.Pro340=) rs41311573
NM_001243133.1(NLRP3):c.1231C>T (p.Leu411=) rs148478875
NM_001243133.1(NLRP3):c.1389C>T (p.His463=) rs111400208
NM_001243133.1(NLRP3):c.592G>A (p.Val198Met) rs121908147
NM_001250.5(CD40):c.679C>G (p.Pro227Ala) rs11086998
NM_001256850.1(TTN):c.13473G>C (p.Val4491=) rs374479775
NM_001256850.1(TTN):c.21624T>A (p.Asp7208Glu) rs200061856
NM_001256850.1(TTN):c.34780G>A (p.Glu11594Lys) rs201035457
NM_001256850.1(TTN):c.42005A>G (p.His14002Arg) rs368502650
NM_001256850.1(TTN):c.42590G>A (p.Arg14197Gln) rs199640194
NM_001256850.1(TTN):c.4359A>T (p.Arg1453Ser) rs376857956
NM_001256850.1(TTN):c.44249G>A (p.Arg14750Gln) rs200944827
NM_001256850.1(TTN):c.4724_4728delTGAAA (p.Met1575Serfs) rs756433029
NM_001256850.1(TTN):c.49237G>C (p.Val16413Leu) rs200968679
NM_001256850.1(TTN):c.64207C>T (p.Pro21403Ser) rs55980498
NM_001256850.1(TTN):c.65239C>T (p.Arg21747Ter) rs781540455
NM_001256850.1(TTN):c.76549C>G (p.Pro25517Ala) rs200771189
NM_001256850.1(TTN):c.76635T>C (p.Asn25545=) rs56181243
NM_001256850.1(TTN):c.82848C>A (p.Gly27616=) rs72648230
NM_001256850.1(TTN):c.86678A>T (p.Asp28893Val) rs182549226
NM_001258332.1(GALT):c.125T>C (p.Val42Ala) rs111033701
NM_001258332.1(GALT):c.485A>G (p.Glu162Gly) rs111033765
NM_001258332.1(GALT):c.805A>G (p.Ile269Val) rs111033819
NM_001267550.2(TTN):c.105514_105516delTCT (p.Ser35172del) rs573843615
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met) rs72647868
NM_001267550.2(TTN):c.47196G>C (p.Val15732=) rs369979598
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=) rs138240658
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=) rs370479059
NM_001270448.1(ACADVL):c.1147C>T (p.Arg383Trp) rs766742117
NM_001270448.1(ACADVL):c.725C>T (p.Pro242Leu) rs201676770
NM_001270448.1(ACADVL):c.875A>C (p.Gln292Pro) rs776063244
NM_001270448.1(ACADVL):c.955-15A>G rs765390290
NM_001281724.2(BTD):c.-216C>T rs114567021
NM_001281724.2(BTD):c.1177C>T (p.Pro393Ser) rs35034250
NM_001281724.2(BTD):c.1336G>C (p.Asp446His) rs13078881
NM_001281724.2(BTD):c.1374A>C (p.Gln458His) rs80338685
NM_001281724.2(BTD):c.370A>G (p.Arg124Gly) rs397514354
NM_001281724.2(BTD):c.632G>A (p.Arg211His) rs398123139
NM_001281724.2(BTD):c.651C>T (p.Leu217=) rs145388314
NM_001281724.2(BTD):c.749T>C (p.Ile250Thr) rs397514382
NM_001282624.1(LMNA):c.342C>G (p.Asn114Lys) rs28933091
NM_001297.4(CNGB1):c.-47A>G rs186471030
NM_001297.4(CNGB1):c.1626C>T (p.Thr542=) rs148735841
NM_001297.4(CNGB1):c.2233C>A (p.Leu745Ile) rs10459809
NM_001297.4(CNGB1):c.2853C>A (p.Asp951Glu) rs7190978
NM_001297.4(CNGB1):c.327C>T (p.Gly109=) rs17821448
NM_001297.4(CNGB1):c.634A>T (p.Thr212Ser) rs192628905
NM_001306210.1(TGFBR1):c.70_78delGCGGCGGCG rs11466445
NM_001355436.2(SPTB):c.1269G>A (p.Leu423=) rs229586
NM_001355436.2(SPTB):c.1316G>A (p.Ser439Asn) rs229587
NM_001355436.2(SPTB):c.2154A>C (p.Ile718=) rs229591
NM_001355436.2(SPTB):c.2934G>A (p.Glu978=) rs72724498
NM_001355436.2(SPTB):c.300+7T>C rs229581
NM_001355436.2(SPTB):c.3451A>G (p.Asn1151Asp) rs77806
NM_001355436.2(SPTB):c.408C>T (p.His136=) rs11623956
NM_001355436.2(SPTB):c.4121A>G (p.His1374Arg) rs10132778
NM_001355436.2(SPTB):c.4208G>A (p.Arg1403Gln) rs17180350
NM_001355436.2(SPTB):c.4293A>G (p.Arg1431=) rs1626923
NM_001355436.2(SPTB):c.4476T>C (p.Leu1492=) rs1741487
NM_001355436.2(SPTB):c.4482G>A (p.Val1494=) rs1741488
NM_001355436.2(SPTB):c.4564-4G>A rs4902312
NM_001355436.2(SPTB):c.4618A>C (p.Arg1540=) rs61989884
NM_001355436.2(SPTB):c.4641G>A (p.Ala1547=) rs184528
NM_001355436.2(SPTB):c.4752C>T (p.Asn1584=) rs4902311
NM_001355436.2(SPTB):c.4779A>G (p.Ala1593=) rs4902310
NM_001355436.2(SPTB):c.4818C>T (p.Tyr1606=) rs4899145
NM_001355436.2(SPTB):c.4860T>C (p.Ile1620=) rs229592
NM_001355436.2(SPTB):c.5535C>T (p.Leu1845=) rs17180252
NM_001355436.2(SPTB):c.5799-7C>T rs7142689
NM_001355436.2(SPTB):c.6023-8C>T rs56181906
NM_001355436.2(SPTB):c.666T>C (p.Phe222=) rs17102119
NM_001355436.2(SPTB):c.876+5A>G rs230703
NM_001355436.2(SPTB):c.996C>T (p.Asn332=) rs141060172
NM_001360.2(DHCR7):c.1272C>T (p.Gly424=) rs909217
NM_001360.2(DHCR7):c.1341C>T (p.Asp447=) rs139721775
NM_001360.2(DHCR7):c.189G>A (p.Gln63=) rs1044482
NM_001360.2(DHCR7):c.231C>T (p.Thr77=) rs4316537
NM_001360.2(DHCR7):c.321+10C>T rs377108406
NM_001360.2(DHCR7):c.506C>T (p.Ser169Leu) rs80338855
NM_001360.2(DHCR7):c.626+15G>A rs736894
NM_001376.4(DYNC1H1):c.13072G>A (p.Ala4358Thr) rs547205132
NM_001376.4(DYNC1H1):c.13707G>A (p.Thr4569=) rs138571942
NM_001390.4(DTNA):c.210G>A (p.Leu70=) rs117571555
NM_001399.4(EDA):c.206G>T (p.Arg69Leu) rs132630309
NM_001399.4(EDA):c.794A>G (p.Asp265Gly) rs727504750
NM_001456.3(FLNA):c.1191C>T (p.Ile397=) rs200048692
NM_001456.3(FLNA):c.1579C>T (p.Arg527Cys) rs202029322
NM_001456.3(FLNA):c.1582G>A (p.Val528Met) rs143873938
NM_001456.3(FLNA):c.1875C>T (p.Asp625=) rs200660642
NM_001456.3(FLNA):c.1968C>T (p.Leu656=) rs73638274
NM_001456.3(FLNA):c.2449C>T (p.Pro817Ser) rs200053635
NM_001456.3(FLNA):c.3270C>T (p.Ile1090=) rs79391751
NM_001456.3(FLNA):c.3708C>T (p.Gly1236=) rs200363918
NM_001456.3(FLNA):c.3876C>T (p.His1292=) rs199917719
NM_001456.3(FLNA):c.3915G>A (p.Thr1305=) rs201488545
NM_001456.3(FLNA):c.4420G>A (p.Asp1474Asn) rs782129236
NM_001456.3(FLNA):c.5948C>T (p.Ser1983Leu) rs187029309
NM_001456.3(FLNA):c.62_64dupTCG (p.Val21_Asp22insVal) rs782721874
NM_001456.3(FLNA):c.6618G>C (p.Val2206=) rs1064822
NM_001456.3(FLNA):c.7043G>A (p.Ser2348Asn) rs782739586
NM_001456.3(FLNA):c.7200C>T (p.Gly2400=) rs12008807
NM_001456.3(FLNA):c.7243C>T (p.Pro2415Ser) rs200198847
NM_001456.3(FLNA):c.942A>G (p.Gly314=) rs200763980
NM_001457.3(FLNB):c.-31C>T rs138060096
NM_001457.3(FLNB):c.1919C>T (p.Thr640Met) rs62621999
NM_001457.3(FLNB):c.2251G>C (p.Gly751Arg) rs28937587
NM_001457.3(FLNB):c.249G>A (p.Ala83=) rs112750785
NM_001457.3(FLNB):c.3288C>T (p.Ser1096=) rs77934864
NM_001457.3(FLNB):c.3469G>A (p.Asp1157Asn) rs1131356
NM_001457.3(FLNB):c.3594G>A (p.Thr1198=) rs143566075
NM_001457.3(FLNB):c.7099G>A (p.Val2367Ile) rs115747856
NM_001540.3(HSPB1):c.80G>C (p.Arg27Pro) rs367662394
NM_001605.2(AARS):c.1044G>C (p.Thr348=) rs181264712
NM_001605.2(AARS):c.1632C>T (p.Asp544=) rs149425243
NM_001614.3(ACTG1):c.918C>T (p.Tyr306=) rs1139405
NM_001753.4(CAV1):c.156C>T (p.Val52=) rs10029
NM_001770.5(CD19):c.1541G>A (p.Arg514His) rs34763945
NM_001770.5(CD19):c.395T>G (p.Leu132Arg) rs146795664
NM_001783.3(CD79A):c.419C>A (p.Thr140Asn) rs148797987
NM_001844.4(COL2A1):c.1176C>T (p.Arg392=) rs201575114
NM_001844.4(COL2A1):c.1266+7G>A rs41317915
NM_001844.4(COL2A1):c.1913C>T (p.Thr638Ile) rs41263847
NM_001844.4(COL2A1):c.246C>T (p.Phe82=) rs142161948
NM_001844.4(COL2A1):c.25A>T (p.Thr9Ser) rs3803183
NM_001844.4(COL2A1):c.2831C>T (p.Pro944Leu) rs140368756
NM_001844.4(COL2A1):c.4116C>T (p.Asn1372=) rs150237416
NM_001844.4(COL2A1):c.426A>T (p.Glu142Asp) rs34392760
NM_001844.4(COL2A1):c.550G>A (p.Ala184Thr) rs201817670
NM_001844.4(COL2A1):c.610-7G>A rs7967258
NM_001876.3(CPT1A):c.823G>A (p.Ala275Thr) rs2229738
NM_001918.3(DBT):c.327C>T (p.Thr109=) rs138796800
NM_001927.3(DES):c.638C>T (p.Ala213Val) rs41272699
NM_001943.3(DSG2):c.437G>T (p.Arg146Leu) rs113451409
NM_001943.4(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_001943.4(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_001943.4(DSG2):c.2137G>A (p.Glu713Lys) rs79241126
NM_001943.4(DSG2):c.2759T>G (p.Val920Gly) rs142841727
NM_001943.4(DSG2):c.3243C>T (p.Val1081=) rs11542379
NM_001943.4(DSG2):c.473T>G (p.Val158Gly) rs191143292
NM_001943.4(DSG2):c.6G>A (p.Ala2=) rs368809971
NM_001943.4(DSG2):c.852T>C (p.Asn284=) rs62095193
NM_001943.4(DSG2):c.877A>G (p.Ile293Val) rs2230234
NM_001943.5(DSG2):c.1847C>T (p.Ala616Val) rs375527314
NM_001953.4(TYMP):c.1393G>A (p.Ala465Thr) rs112723255
NM_001953.4(TYMP):c.1412C>T (p.Ser471Leu) rs11479
NM_001953.4(TYMP):c.972C>T (p.Ala324=) rs131804
NM_001972.2(ELANE):c.377C>T (p.Ser126Leu) rs137854450
NM_001972.2(ELANE):c.558C>A (p.Val186=) rs878855317
NM_001972.2(ELANE):c.770C>T (p.Pro257Leu) rs17216663
NM_001972.2(ELANE):c.785C>T (p.Pro262Leu) rs17216670
NM_001972.3(ELANE):c.655G>A (p.Val219Ile) rs17216656
NM_001985.2(ETFB):c.278C>T (p.Pro93Leu) rs139519507
NM_001985.2(ETFB):c.709G>A (p.Val237Ile) rs149129214
NM_001999.3(FBN2):c.1040G>A (p.Arg347His) rs112428886
NM_001999.3(FBN2):c.111G>A (p.Pro37=) rs55715053
NM_001999.3(FBN2):c.1285A>G (p.Ser429Gly) rs115242287
NM_001999.3(FBN2):c.1435G>A (p.Gly479Arg) rs147346327
NM_001999.3(FBN2):c.183C>G (p.Pro61=) rs73348287
NM_001999.3(FBN2):c.203C>T (p.Ala68Val) rs62390671
NM_001999.3(FBN2):c.2427T>A (p.Ile809=) rs139686090
NM_001999.3(FBN2):c.2555-7A>G rs28763949
NM_001999.3(FBN2):c.2778C>T (p.Ala926=) rs28763948
NM_001999.3(FBN2):c.2902A>G (p.Asn968Asp) rs774248421
NM_001999.3(FBN2):c.3394G>A (p.Val1132Ile) rs138834515
NM_001999.3(FBN2):c.4206C>T (p.Asn1402=) rs34201226
NM_001999.3(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072
NM_001999.3(FBN2):c.4647C>T (p.Asn1549=) rs146662880
NM_001999.3(FBN2):c.4791C>T (p.Ile1597=) rs147040906
NM_001999.3(FBN2):c.4902C>T (p.Pro1634=) rs201071253
NM_001999.3(FBN2):c.4938C>T (p.Ile1646=) rs773597432
NM_001999.3(FBN2):c.4983C>T (p.Cys1661=) rs143907156
NM_001999.3(FBN2):c.5496C>T (p.Arg1832=) rs35346129
NM_001999.3(FBN2):c.629-9A>G rs56025995
NM_001999.3(FBN2):c.6840G>T (p.Pro2280=) rs377742525
NM_001999.3(FBN2):c.6841A>T (p.Ile2281Phe) rs115223340
NM_001999.3(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_001999.3(FBN2):c.7013-5T>C rs28763927
NM_001999.3(FBN2):c.728T>C (p.Ile243Thr) rs117524265
NM_001999.3(FBN2):c.7296G>T (p.Gln2432His) rs34600572
NM_001999.3(FBN2):c.7739C>T (p.Ser2580Leu) rs2291628
NM_001999.3(FBN2):c.8154C>T (p.Leu2718=) rs34119447
NM_001999.3(FBN2):c.829G>A (p.Val277Ile) rs146849637
NM_001999.3(FBN2):c.976C>T (p.Pro326Ser) rs28763954
NM_002109.5(HARS):c.234C>T (p.Asp78=) rs142994969
NM_002148.3(HOXD10):c.987G>C (p.Arg329=) rs33913965
NM_002180.2(IGHMBP2):c.1193C>T (p.Ala398Val) rs35193202
NM_002180.2(IGHMBP2):c.2025C>T (p.Thr675=) rs138396245
NM_002180.2(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615
NM_002290.4(LAMA4):c.2150G>A (p.Arg717Lys) rs146868519
NM_002290.4(LAMA4):c.903T>C (p.His301=) rs143580603
NM_002294.2(LAMP2):c.661G>A (p.Gly221Arg) rs145169006
NM_002296.3(LBR):c.-39G>C rs553408012
NM_002296.3(LBR):c.1609T>G (p.Ser537Ala) rs80299691
NM_002296.3(LBR):c.951A>G (p.Val317=) rs199748938
NM_002310.5(LIFR):c.143-11_143-10delGT rs10637374
NM_002310.5(LIFR):c.1899A>G (p.Ile633Met) rs2303743
NM_002310.5(LIFR):c.1937C>A (p.Thr646Asn) rs79040751
NM_002310.5(LIFR):c.2934G>A (p.Gln978=) rs148354076
NM_002312.3(LIG4):c.1704T>C (p.Asp568=) rs1805386
NM_002437.4(MPV17):c.444G>A (p.Leu148=) rs776964645
NM_002454.2(MTRR):c.1982A>G (p.His661Arg) rs148909799
NM_002454.2(MTRR):c.288C>T (p.Leu96=) rs35587995
NM_002454.2(MTRR):c.997C>G (p.Leu333Val) rs10064631
NM_002471.3(MYH6):c.166G>A (p.Gly56Arg) rs28711516
NM_002471.3(MYH6):c.1763A>C (p.Asp588Ala) rs142992009
NM_002471.3(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652
NM_002471.3(MYH6):c.3480C>T (p.Ser1160=) rs373345984
NM_002471.3(MYH6):c.36G>A (p.Ala12=) rs141014719
NM_002471.3(MYH6):c.4293G>A (p.Met1431Ile) rs201016285
NM_002471.3(MYH6):c.4914T>C (p.Ala1638=) rs178640
NM_002471.3(MYH6):c.86G>A (p.Arg29Gln) rs150574114
NM_002474.2(MYH11):c.12G>A (p.Lys4=) rs112650390
NM_002474.2(MYH11):c.2061C>T (p.Ser687=) rs880071
NM_002474.2(MYH11):c.2079C>T (p.Phe693=) rs34287137
NM_002474.2(MYH11):c.2208C>T (p.Ile736=) rs12931799
NM_002474.2(MYH11):c.291C>T (p.Asn97=) rs113363750
NM_002474.2(MYH11):c.3652-6C>T rs193922630
NM_002474.2(MYH11):c.3816G>A (p.Glu1272=) rs112990531
NM_002474.2(MYH11):c.3828G>A (p.Ala1276=) rs113154524
NM_002474.2(MYH11):c.3866T>C (p.Val1289Ala) rs16967510
NM_002474.2(MYH11):c.387A>G (p.Lys129=) rs78754138
NM_002474.2(MYH11):c.3928G>A (p.Val1310Met) rs7196804
NM_002474.2(MYH11):c.417C>T (p.Val139=) rs1050111
NM_002474.2(MYH11):c.4242T>G (p.Ala1414=) rs2075511
NM_002474.2(MYH11):c.4522A>G (p.Met1508Val) rs35176378
NM_002474.2(MYH11):c.453G>A (p.Pro151=) rs61734199
NM_002474.2(MYH11):c.4770G>A (p.Lys1590=) rs11648119
NM_002474.2(MYH11):c.5160C>T (p.Ser1720=) rs199564260
NM_002474.2(MYH11):c.5517G>A (p.Ala1839=) rs28505375
NM_002474.2(MYH11):c.5566C>T (p.Leu1856=) rs142639688
NM_002474.2(MYH11):c.5676G>C (p.Glu1892Asp) rs113964173
NM_002474.2(MYH11):c.5691C>T (p.Asn1897=) rs149566621
NM_002474.2(MYH11):c.792T>C (p.Tyr264=) rs34341838
NM_002474.2(MYH11):c.987C>T (p.Thr329=) rs4781689
NM_002485.4(NBN):c.1222A>G (p.Lys408Glu) rs34120922
NM_002485.4(NBN):c.1354A>C (p.Thr452Pro) rs141137543
NM_002485.4(NBN):c.1489A>G (p.Thr497Ala) rs3026268
NM_002485.4(NBN):c.1720T>A (p.Leu574Ile) rs142334798
NM_002485.4(NBN):c.2082T>G (p.Pro694=) rs7823648
NM_002485.4(NBN):c.283G>A (p.Asp95Asn) rs61753720
NM_002485.4(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002485.4(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002506.2(NGF):c.239G>A (p.Arg80Gln) rs11466111
NM_002661.4(PLCG2):c.1565C>G (p.Pro522Arg) rs72824905
NM_002661.4(PLCG2):c.2324A>G (p.Lys775Arg) rs142825971
NM_002661.4(PLCG2):c.2542C>T (p.Leu848Phe) rs114618894
NM_002693.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_002693.2(POLG):c.1837C>T (p.His613Tyr) rs147407423
NM_002693.2(POLG):c.1984G>A (p.Glu662Lys) rs2307450
NM_002693.2(POLG):c.2243G>C (p.Trp748Ser) rs113994097
NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) rs41549716
NM_002693.2(POLG):c.3409dupG (p.Val1137Glyfs) rs1555452461
NM_002693.2(POLG):c.3428A>G (p.Glu1143Gly) rs2307441
NM_002693.2(POLG):c.391T>C (p.Tyr131His) rs562847013
NM_002693.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_002764.3(PRPS1):c.456A>G (p.Leu152=) rs61735617
NM_002769.4(PRSS1):c.121C>T (p.Leu41=) rs369646357
NM_002769.4(PRSS1):c.235G>A (p.Glu79Lys) rs111033564
NM_002769.4(PRSS1):c.279C>T (p.Ile93=) rs139664510
NM_002769.4(PRSS1):c.360C>T (p.Asn120=) rs606231348
NM_002769.4(PRSS1):c.364C>T (p.Arg122Cys) rs111033568
NM_002769.4(PRSS1):c.365G>A (p.Arg122His) rs111033565
NM_002769.4(PRSS1):c.390C>T (p.Thr130=) rs561097415
NM_002769.4(PRSS1):c.40+40delC rs748794481
NM_002769.4(PRSS1):c.410C>T (p.Thr137Met) rs117497341
NM_002769.4(PRSS1):c.417C>T (p.Cys139=) rs141847266
NM_002769.4(PRSS1):c.453C>T (p.Gly151=) rs147765409
NM_002769.4(PRSS1):c.47C>T (p.Ala16Val) rs202003805
NM_002769.4(PRSS1):c.567T>C (p.Leu189=) rs377124851
NM_002769.4(PRSS1):c.86A>T (p.Asn29Ile) rs111033566
NM_002769.4(PRSS1):c.93G>A (p.Glu31=) rs745623963
NM_002834.4(PTPN11):c.1093-9C>A rs12301915
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.4(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541
NM_002834.4(PTPN11):c.1620C>T (p.His540=) rs587781132
NM_002834.4(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.4(PTPN11):c.211T>C (p.Phe71Leu) rs397507512
NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.4(PTPN11):c.255C>T (p.His85=) rs61736914
NM_002834.4(PTPN11):c.556C>T (p.Arg186Trp) rs143433437
NM_002834.4(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.4(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002838.4(PTPRC):c.1268C>T (p.Thr423Ile) rs6696162
NM_002838.4(PTPRC):c.1568A>T (p.Glu523Val) rs116464756
NM_002838.4(PTPRC):c.177C>G (p.Pro59=) rs17612648
NM_002838.4(PTPRC):c.3670G>A (p.Val1224Ile) rs150672767
NM_002838.5(PTPRC):c.566T>A (p.Ile189Asn) rs201715157
NM_002863.4(PYGL):c.1900G>C (p.Asp634His) rs35026927
NM_002878.3(RAD51D):c.494G>A (p.Arg165Gln) rs4796033
NM_002878.3(RAD51D):c.698A>G (p.Glu233Gly) rs28363284
NM_002878.3(RAD51D):c.873C>T (p.Arg291=) rs140848654
NM_002880.3(RAF1):c.122G>A (p.Arg41Gln) rs145611571
NM_002880.3(RAF1):c.1830A>G (p.Gln610=) rs141791080
NM_002880.3(RAF1):c.923C>T (p.Pro308Leu) rs5746220
NM_002890.2(RASA1):c.1583A>G (p.Tyr528Cys) rs145752649
NM_002890.2(RASA1):c.209A>G (p.Glu70Gly) rs146525982
NM_002890.2(RASA1):c.296C>T (p.Ala99Val) rs111840875
NM_002977.3(SCN9A):c.1155G>T (p.Val385=) rs58465962
NM_002977.3(SCN9A):c.1469G>A (p.Ser490Asn) rs58022607
NM_002977.3(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_002977.3(SCN9A):c.1964A>G (p.Lys655Arg) rs121908919
NM_002977.3(SCN9A):c.2484+6C>T rs145316463
NM_002977.3(SCN9A):c.3329G>A (p.Arg1110Gln) rs74401238
NM_002977.3(SCN9A):c.3734A>G (p.Asn1245Ser) rs141268327
NM_002977.3(SCN9A):c.3799C>G (p.Leu1267Val) rs180922748
NM_002977.3(SCN9A):c.5678G>A (p.Arg1893His) rs79805025
NM_002977.3(SCN9A):c.684C>G (p.Ile228Met) rs71428908
NM_003000.2(SDHB):c.137G>A (p.Arg46Gln) rs772551056
NM_003000.2(SDHB):c.170A>G (p.His57Arg) rs35962811
NM_003000.2(SDHB):c.24C>T (p.Ser8=) rs148738139
NM_003000.2(SDHB):c.380T>G (p.Ile127Ser) rs786201095
NM_003000.2(SDHB):c.487T>C (p.Ser163Pro) rs33927012
NM_003001.3(SDHC):c.148C>T (p.Arg50Cys) rs587778661
NM_003001.3(SDHC):c.354T>C (p.Phe118=) rs61733156
NM_003002.3(SDHD):c.149A>G (p.His50Arg) rs11214077
NM_003002.3(SDHD):c.204C>T (p.Ser68=) rs9919552
NM_003002.3(SDHD):c.242C>T (p.Pro81Leu) rs80338844
NM_003002.3(SDHD):c.312C>T (p.His104=) rs61734352
NM_003002.3(SDHD):c.34G>A (p.Gly12Ser) rs34677591
NM_003036.3(SKI):c.1163C>T (p.Ala388Val) rs75280988
NM_003036.3(SKI):c.1258G>A (p.Ala420Thr) rs771862077
NM_003036.3(SKI):c.1527C>T (p.Ser509=) rs111935632
NM_003036.3(SKI):c.216C>T (p.Pro72=) rs756778048
NM_003036.3(SKI):c.360C>T (p.Arg120=) rs375024753
NM_003036.3(SKI):c.897C>T (p.Arg299=) rs773901705
NM_003036.3(SKI):c.948G>A (p.Lys316=) rs368128582
NM_003060.3(SLC22A5):c.*47C>T rs1045020
NM_003060.3(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921
NM_003060.3(SLC22A5):c.1463G>A (p.Arg488His) rs28383481
NM_003060.3(SLC22A5):c.1645C>T (p.Pro549Ser) rs11568525
NM_003060.3(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652
NM_003060.3(SLC22A5):c.424G>T (p.Ala142Ser) rs151231558
NM_003060.3(SLC22A5):c.430C>T (p.Leu144Phe) rs10040427
NM_003060.3(SLC22A5):c.51C>G (p.Phe17Leu) rs11568520
NM_003060.3(SLC22A5):c.523G>A (p.Val175Met) rs781721860
NM_003060.3(SLC22A5):c.695C>T (p.Thr232Met) rs114269482
NM_003073.4(SMARCB1):c.267C>T (p.Thr89=) rs141275968
NM_003098.2(SNTA1):c.221C>T (p.Pro74Leu) rs572545726
NM_003098.2(SNTA1):c.317G>A (p.Arg106Gln) rs75025585
NM_003098.2(SNTA1):c.770C>G (p.Ala257Gly) rs56157422
NM_003122.4(SPINK1):c.*32C>T rs11319
NM_003122.4(SPINK1):c.-22C>T rs190219062
NM_003122.4(SPINK1):c.101A>G (p.Asn34Ser) rs17107315
NM_003122.4(SPINK1):c.163C>T (p.Pro55Ser) rs111966833
NM_003122.4(SPINK1):c.174C>T (p.Cys58=) rs35737774
NM_003122.4(SPINK1):c.194G>A (p.Arg65Gln) rs141634296
NM_003122.4(SPINK1):c.1A>T (p.Met1Leu) rs369163833
NM_003122.4(SPINK1):c.200G>A (p.Arg67His) rs35523678
NM_003122.4(SPINK1):c.206C>T (p.Thr69Ile) rs576564400
NM_003122.4(SPINK1):c.231G>A (p.Gly77=) rs34809998
NM_003122.4(SPINK1):c.36G>C (p.Leu12Phe) rs35877720
NM_003122.4(SPINK1):c.56-37T>C rs17107318
NM_003126.3(SPTA1):c.126C>T (p.Val42=) rs435080
NM_003126.3(SPTA1):c.1958A>G (p.Tyr653Cys) rs148912436
NM_003126.3(SPTA1):c.2353C>A (p.Arg785=) rs2022057
NM_003126.3(SPTA1):c.2373C>A (p.Asp791Glu) rs7418956
NM_003126.3(SPTA1):c.24+3A>G rs2564858
NM_003126.3(SPTA1):c.2425A>G (p.Ile809Val) rs7547313
NM_003126.3(SPTA1):c.2493T>G (p.Leu831=) rs2518493
NM_003126.3(SPTA1):c.2558C>G (p.Thr853Arg) rs35121052
NM_003126.3(SPTA1):c.2757A>G (p.Glu919=) rs16840450
NM_003126.3(SPTA1):c.2870C>T (p.Ala957Val) rs34706737
NM_003126.3(SPTA1):c.2874G>A (p.Leu958=) rs857691
NM_003126.3(SPTA1):c.2909C>A (p.Ala970Asp) rs35948326
NM_003126.3(SPTA1):c.3149C>T (p.Pro1050Leu) rs116297260
NM_003126.3(SPTA1):c.3160A>T (p.Thr1054Ser) rs145054175
NM_003126.3(SPTA1):c.3487T>G (p.Ser1163Ala) rs2482965
NM_003126.3(SPTA1):c.3693C>T (p.Asp1231=) rs34773716
NM_003126.3(SPTA1):c.3989G>T (p.Arg1330Ile) rs34214405
NM_003126.3(SPTA1):c.4453C>T (p.Leu1485Phe) rs34973695
NM_003126.3(SPTA1):c.454G>A (p.Asp152Asn) rs16840544
NM_003126.3(SPTA1):c.4702T>C (p.Cys1568Arg) rs863931
NM_003126.3(SPTA1):c.5077A>C (p.Lys1693Gln) rs857725
NM_003126.3(SPTA1):c.5292C>A (p.Ala1764=) rs3738791
NM_003126.3(SPTA1):c.5572C>G (p.Leu1858Val) rs3737515
NM_003126.3(SPTA1):c.5958C>T (p.Pro1986=) rs3753068
NM_003126.3(SPTA1):c.6437A>G (p.Gln2146Arg) rs138055271
NM_003126.3(SPTA1):c.6672A>C (p.Glu2224Asp) rs142775522
NM_003126.3(SPTA1):c.6789-8del rs5778083
NM_003126.3(SPTA1):c.6789-8dup rs5778083
NM_003126.3(SPTA1):c.6789-9_6789-8dup rs5778083
NM_003126.3(SPTA1):c.6794T>C (p.Ile2265Thr) rs952094
NM_003126.3(SPTA1):c.7095A>G (p.Ala2365=) rs2251969
NM_003126.3(SPTA1):c.813-7A>T rs325995
NM_003126.3(SPTA1):c.867T>C (p.Ser289=) rs12083637
NM_003126.3(SPTA1):c.915T>C (p.Ser305=) rs703121
NM_003126.3(SPTA1):c.942T>A (p.Ala314=) rs325996
NM_003172.3(SURF1):c.211G>C (p.Val71Leu) rs147993882
NM_003242.5(TGFBR2):c.1062C>T (p.Leu354=) rs113194608
NM_003242.5(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_003242.5(TGFBR2):c.367A>T (p.Met123Leu) rs768385200
NM_003242.5(TGFBR2):c.617C>T (p.Thr206Met) rs150022335
NM_003244.3(TGIF1):c.487C>T (p.Pro163Ser) rs4468717
NM_003244.3(TGIF1):c.488C>T (p.Pro163Leu) rs2229333
NM_003276.2(TMPO):c.1246A>G (p.Lys416Glu) rs11838270
NM_003276.2(TMPO):c.1277C>T (p.Pro426Leu) rs141443652
NM_003276.2(TMPO):c.686C>T (p.Thr229Ile) rs138790561
NM_003322.4(TULP1):c.776T>C (p.Ile259Thr) rs2064317
NM_003476.4(CSRP3):c.336G>A (p.Ala112=) rs13451
NM_003639.4(IKBKG):c.337G>A (p.Asp113Asn) rs179363896
NM_003640.3(ELP1):c.1758T>G (p.Pro586=) rs35054425
NM_003640.3(ELP1):c.2543C>A (p.Thr848Asn) rs10979599
NM_003640.4(ELP1):c.2825G>A (p.Arg942Gln) rs149845612
NM_003640.4(ELP1):c.3280A>G (p.Arg1094Gly) rs146440397
NM_003640.5(ELP1):c.1886G>A (p.Arg629His) rs148378319
NM_003640.5(ELP1):c.923T>C (p.Leu308Pro) rs78135392
NM_003673.3(TCAP):c.316C>T (p.Arg106Cys) rs45578741
NM_003673.3(TCAP):c.37_39delGAG (p.Glu13del) rs397516862
NM_003680.3(YARS):c.483G>C (p.Leu161=) rs780528629
NM_003849.3(SUCLG1):c.98-14_98-11delTTTT rs56733272
NM_003850.2(SUCLA2):c.1099G>A (p.Asp367Asn) rs117412559
NM_003850.2(SUCLA2):c.256A>G (p.Ile86Val) rs61756204
NM_003850.2(SUCLA2):c.37G>A (p.Val13Met) rs35201084
NM_003923.2(FOXH1):c.1077G>A (p.Leu359=) rs7833404
NM_003923.2(FOXH1):c.373A>T (p.Thr125Ser) rs112028242
NM_003978.4(PSTPIP1):c.*38T>C rs201535027
NM_003978.4(PSTPIP1):c.1144G>A (p.Ala382Thr) rs145344175
NM_003978.4(PSTPIP1):c.1151A>G (p.Asp384Gly) rs200771233
NM_003978.4(PSTPIP1):c.1207G>C (p.Gly403Arg) rs369113632
NM_003978.4(PSTPIP1):c.147G>A (p.Ala49=) rs34618738
NM_003978.4(PSTPIP1):c.236C>T (p.Ser79Phe) rs77026017
NM_003978.4(PSTPIP1):c.543G>A (p.Lys181=) rs375950478
NM_003978.4(PSTPIP1):c.657A>C (p.Gln219His) rs139362350
NM_003978.4(PSTPIP1):c.773G>C (p.Gly258Ala) rs34240327
NM_003978.4(PSTPIP1):c.837C>T (p.Pro279=) rs149195362
NM_003978.4(PSTPIP1):c.908C>T (p.Pro303Leu) rs189773500
NM_003978.4(PSTPIP1):c.940C>T (p.Leu314=) rs201582038
NM_004004.5(GJB2):c.-15C>T rs72561725
NM_004004.5(GJB2):c.-6T>A rs148136545
NM_004004.5(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.5(GJB2):c.11G>A (p.Gly4Asp) rs111033222
NM_004004.5(GJB2):c.131G>A (p.Trp44Ter) rs104894413
NM_004004.5(GJB2):c.167delT (p.Leu56Argfs) rs80338942
NM_004004.5(GJB2):c.1A>G (p.Met1Val) rs111033293
NM_004004.5(GJB2):c.235delC (p.Leu79Cysfs) rs80338943
NM_004004.5(GJB2):c.249C>G (p.Phe83Leu) rs111033218
NM_004004.5(GJB2):c.250G>T (p.Val84Leu) rs104894409
NM_004004.5(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.5(GJB2):c.283G>A (p.Val95Met) rs111033299
NM_004004.5(GJB2):c.298C>T (p.His100Tyr) rs143343083
NM_004004.5(GJB2):c.355G>A (p.Glu119Lys) rs150529554
NM_004004.5(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.5(GJB2):c.35delG (p.Gly12Valfs) rs80338939
NM_004004.5(GJB2):c.365A>T (p.Lys122Ile) rs111033295
NM_004004.5(GJB2):c.380G>A (p.Arg127His) rs111033196
NM_004004.5(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.5(GJB2):c.457G>A (p.Val153Ile) rs111033186
NM_004004.5(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_004004.5(GJB2):c.503A>G (p.Lys168Arg) rs200104362
NM_004004.5(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.5(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.-22-2A>C rs201895089
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys) rs767178508
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878
NM_004006.2(DMD):c.10789C>T (p.Leu3597=) rs1800281
NM_004006.2(DMD):c.10846A>G (p.Thr3616Ala) rs368996545
NM_004006.2(DMD):c.1225A>T (p.Thr409Ser) rs34155804
NM_004006.2(DMD):c.145C>T (p.Arg49Cys) rs147548697
NM_004006.2(DMD):c.1635A>G (p.Arg545=) rs5927083
NM_004006.2(DMD):c.1704+3G>A rs773123973
NM_004006.2(DMD):c.1869C>T (p.Leu623=) rs1800267
NM_004006.2(DMD):c.3419A>G (p.His1140Arg) rs201297190
NM_004006.2(DMD):c.3603+8A>G rs193249735
NM_004006.2(DMD):c.3705C>T (p.Ala1235=) rs143628111
NM_004006.2(DMD):c.3734C>T (p.Thr1245Ile) rs1800269
NM_004006.2(DMD):c.4162T>G (p.Phe1388Val) rs28715870
NM_004006.2(DMD):c.4684A>G (p.Arg1562Gly) rs771425504
NM_004006.2(DMD):c.4744G>A (p.Val1582Ile) rs398123965
NM_004006.2(DMD):c.4878G>T (p.Val1626=) rs61733574
NM_004006.2(DMD):c.5016T>A (p.Asn1672Lys) rs16990264
NM_004006.2(DMD):c.5182C>T (p.Arg1728Cys) rs34102501
NM_004006.2(DMD):c.5234G>A (p.Arg1745His) rs1801187
NM_004006.2(DMD):c.5476G>C (p.Glu1826Gln) rs140913030
NM_004006.2(DMD):c.5701G>A (p.Ala1901Thr) rs201302282
NM_004006.2(DMD):c.6463C>T (p.Arg2155Trp) rs1800273
NM_004006.2(DMD):c.696C>G (p.Ile232Met) rs145668843
NM_004006.2(DMD):c.7183G>A (p.Ala2395Thr) rs72466590
NM_004006.2(DMD):c.7728T>C (p.Asn2576=) rs1801188
NM_004006.2(DMD):c.837G>A (p.Thr279=) rs1800265
NM_004006.2(DMD):c.8729A>T (p.Glu2910Val) rs41305353
NM_004006.2(DMD):c.8734A>G (p.Asn2912Asp) rs1800278
NM_004006.2(DMD):c.8762A>G (p.His2921Arg) rs1800279
NM_004082.4(DCTN1):c.1484G>A (p.Arg495Gln) rs17721059
NM_004082.4(DCTN1):c.2448A>G (p.Ala816=) rs1130484
NM_004082.4(DCTN1):c.586A>G (p.Ile196Val) rs55862001
NM_004086.2(COCH):c.1204A>G (p.Ile402Val) rs28362778
NM_004086.2(COCH):c.1269C>T (p.Asp423=) rs35353967
NM_004086.2(COCH):c.1348A>G (p.Ile450Val) rs139503327
NM_004086.2(COCH):c.841G>A (p.Asp281Asn) rs28362775
NM_004168.3(SDHA):c.-7A>C rs751633537
NM_004168.3(SDHA):c.113A>T (p.Asp38Val) rs34635677
NM_004168.3(SDHA):c.891T>C (p.Pro297=) rs1126417
NM_004168.3(SDHA):c.91C>T (p.Arg31Ter) rs142441643
NM_004168.4(SDHA):c.1038C>G (p.Ser346=) rs1041949
NM_004168.4(SDHA):c.1680G>A (p.Thr560=) rs1139449
NM_004168.4(SDHA):c.1752A>G (p.Ala584=) rs13070
NM_004168.4(SDHA):c.1932G>A (p.Val644=) rs6961
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile) rs6962
NM_004168.4(SDHA):c.309A>G (p.Ala103=) rs1139424
NM_004168.4(SDHA):c.619A>C (p.Arg207=) rs6555055
NM_004168.4(SDHA):c.684T>C (p.Asn228=) rs2115272
NM_004183.3(BEST1):c.618G>A (p.Leu206=) rs62641693
NM_004183.3(BEST1):c.619C>A (p.Leu207Ile) rs74653691
NM_004239.4(TRIP11):c.-61C>T rs78222479
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser) rs139539448
NM_004239.4(TRIP11):c.3147G>A (p.Leu1049=) rs17127842
NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His) rs41301481
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser) rs141553918
NM_004239.4(TRIP11):c.4139C>T (p.Thr1380Ile) rs117748213
NM_004239.4(TRIP11):c.4159G>A (p.Glu1387Lys) rs201607866
NM_004239.4(TRIP11):c.4164C>T (p.His1388=) rs140130380
NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=) rs144780536
NM_004281.3(BAG3):c.1587C>T (p.Ala529=) rs149358702
NM_004281.3(BAG3):c.212G>A (p.Arg71Gln) rs35434411
NM_004281.3(BAG3):c.25A>G (p.Met9Val) rs137965903
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp) rs117671123
NM_004304.4(ALK):c.1427T>C (p.Val476Ala) rs35093491
NM_004304.4(ALK):c.2149G>A (p.Glu717Lys) rs147858673
NM_004304.4(ALK):c.3594C>T (p.Leu1198=) rs56071005
NM_004321.7(KIF1A):c.2631C>T (p.Gly877=) rs751977290
NM_004321.7(KIF1A):c.3042C>G (p.Ala1014=) rs370286749
NM_004321.7(KIF1A):c.4852G>A (p.Val1618Met) rs200511467
NM_004321.7(KIF1A):c.609-8C>T rs775915390
NM_004328.4(BCS1L):c.613G>A (p.Val205Ile) rs148278887
NM_004329.2(BMPR1A):c.1140C>T (p.Asp380=) rs35572415
NM_004329.2(BMPR1A):c.1419T>G (p.Val473=) rs145756629
NM_004329.2(BMPR1A):c.355C>T (p.Arg119Cys) rs587782494
NM_004329.2(BMPR1A):c.435G>A (p.Pro145=) rs11818239
NM_004329.2(BMPR1A):c.4C>A (p.Pro2Thr) rs11528010
NM_004329.2(BMPR1A):c.961C>T (p.Leu321=) rs377412651
NM_004333.4(BRAF):c.2128-4G>T rs956143558
NM_004333.5(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.5(BRAF):c.78G>T (p.Glu26Asp) rs371877084
NM_004360.3(CDH1):c.*54C>T rs1801026
NM_004360.3(CDH1):c.84C>T (p.Cys28=) rs587780789
NM_004360.4(CDH1):c.1272C>T (p.Val424=) rs61756284
NM_004360.4(CDH1):c.1680G>C (p.Thr560=) rs35741240
NM_004360.4(CDH1):c.1744C>T (p.Leu582=) rs1801025
NM_004360.4(CDH1):c.1896C>T (p.His632=) rs33969373
NM_004360.4(CDH1):c.2073C>T (p.Ala691=) rs536104508
NM_004360.4(CDH1):c.345G>A (p.Thr115=) rs1801023
NM_004360.5(CDH1):c.1308G>A (p.Leu436=) rs557551011
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154
NM_004360.5(CDH1):c.2412C>T (p.Pro804=) rs202075199
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691
NM_004376.6(COX15):c.1026C>T (p.Phe342=) rs147724430
NM_004415.2(DSP):c.1481A>T (p.Tyr494Phe) rs28763961
NM_004415.2(DSP):c.2684A>G (p.Tyr895Cys) rs367752002
NM_004415.2(DSP):c.4372C>G (p.Arg1458Gly) rs28763965
NM_004415.2(DSP):c.4609C>T (p.Arg1537Cys) rs28763967
NM_004415.2(DSP):c.5498A>T (p.Glu1833Val) rs78652302
NM_004415.2(DSP):c.5593A>T (p.Asn1865Tyr) rs562015789
NM_004415.2(DSP):c.8605A>G (p.Ile2869Val) rs28763971
NM_004452.3(ESRRB):c.1156C>T (p.Pro386Ser) rs61742642
NM_004452.3(ESRRB):c.1409C>T (p.Pro470Leu) rs201726554
NM_004517.3(ILK):c.707A>G (p.Asn236Ser) rs145571020
NM_004541.3(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316
NM_004550.4(NDUFS2):c.968G>A (p.Arg323Gln) rs35086265
NM_004572.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_004572.3(PKP2):c.1592T>G (p.Ile531Ser) rs147240502
NM_004572.3(PKP2):c.2484C>T (p.Gly828=) rs727504509
NM_004572.3(PKP2):c.302G>A (p.Arg101His) rs149542398
NM_004589.3(SCO1):c.172C>T (p.Pro58Ser) rs1802083
NM_004612.2(TGFBR1):c.528G>A (p.Thr176=) rs190878719
NM_004612.2(TGFBR1):c.707C>T (p.Ser236Phe) rs863223812
NM_004612.3(TGFBR1):c.1125A>C (p.Thr375=) rs7861780
NM_004612.4(TGFBR1):c.-4G>A rs1007933061
NM_004615.3(TSPAN7):c.237T>C (p.Ala79=) rs7049247
NM_004629.1(FANCG):c.890C>T (p.Thr297Ile) rs2237857
NM_004656.3(BAP1):c.2057-4G>T rs149499021
NM_004863.3(SPTLC2):c.162A>C (p.Leu54=) rs115191009
NM_004895.4(NLRP3):c.1050G>A (p.Thr350=) rs143140947
NM_004895.4(NLRP3):c.1125G>A (p.Glu375=) rs138613962
NM_004895.4(NLRP3):c.1407C>T (p.Leu469=) rs141637807
NM_004895.4(NLRP3):c.1926C>T (p.Phe642=) rs34698071
NM_004895.4(NLRP3):c.2113C>A (p.Gln705Lys) rs35829419
NM_004895.4(NLRP3):c.214G>A (p.Val72Met) rs117287351
NM_004895.4(NLRP3):c.2182A>G (p.Ser728Gly) rs147946775
NM_004895.4(NLRP3):c.2861C>T (p.Thr954Met) rs139814109
NM_004895.4(NLRP3):c.429C>T (p.Tyr143=) rs56710146
NM_004895.4(NLRP3):c.795C>T (p.Ser265=) rs146442638
NM_004984.2(KIF5A):c.2769G>A (p.Arg923=) rs35225609
NM_004985.4(KRAS):c.198A>G (p.Ala66=) rs200229810
NM_004985.4(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_004992.3(MECP2):c.1197C>T (p.Pro399=) rs61753012
NM_004992.3(MECP2):c.1205C>T (p.Pro402Leu) rs61753014
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.748C>T (p.Arg250Cys) rs141382970
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_004999.3(MYO6):c.1722C>T (p.Asp574=) rs11756446
NM_005006.6(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826
NM_005188.3(CBL):c.2710G>A (p.Val904Ile) rs17122769
NM_005270.4(GLI2):c.1944C>T (p.Thr648=) rs13008360
NM_005270.4(GLI2):c.3943C>T (p.Pro1315Ser) rs114376238
NM_005270.4(GLI2):c.4332G>A (p.Met1444Ile) rs146467786
NM_005270.4(GLI2):c.4333C>T (p.Leu1445Phe) rs146207623
NM_005270.4(GLI2):c.720C>T (p.Asp240=) rs142793481
NM_005270.4(GLI2):c.963C>G (p.Pro321=) rs149894186
NM_005327.4(HADH):c.456G>T (p.Gln152His) rs1051519
NM_005334.2(HCFC1):c.3492C>T (p.Ser1164=) rs376049260
NM_005343.4(HRAS):c.81T>C (p.His27=) rs12628
NM_005359.5(SMAD4):c.1086T>C (p.Phe362=) rs1801250
NM_005359.5(SMAD4):c.1218G>A (p.Ala406=) rs145097078
NM_005359.5(SMAD4):c.1573A>G (p.Ile525Val) rs149755320
NM_005359.5(SMAD4):c.1647A>G (p.Gln549=) rs113545983
NM_005359.5(SMAD4):c.354G>A (p.Ala118=) rs145988618
NM_005359.5(SMAD4):c.455-6A>G rs181178864
NM_005359.5(SMAD4):c.693C>T (p.Gly231=) rs765597059
NM_005379.3(MYO1A):c.1277C>T (p.Pro426Leu) rs4759043
NM_005379.3(MYO1A):c.277C>T (p.Arg93Ter) rs121909305
NM_005422.2(TECTA):c.3097C>T (p.Arg1033Trp) rs142486386
NM_005422.2(TECTA):c.3556C>T (p.Arg1186Trp) rs148098950
NM_005422.2(TECTA):c.4751G>C (p.Ser1584Thr) rs34963131
NM_005422.2(TECTA):c.5668C>T (p.Arg1890Cys) rs121909063
NM_005422.2(TECTA):c.5836T>C (p.Tyr1946His) rs144343770
NM_005422.2(TECTA):c.6428C>T (p.Ser2143Leu) rs538443920
NM_005472.4(KCNE3):c.198T>C (p.Phe66=) rs2270676
NM_005472.4(KCNE3):c.248G>A (p.Arg83His) rs17215437
NM_005529.6(HSPG2):c.10045C>G (p.Leu3349Val) rs75843082
NM_005529.6(HSPG2):c.10937G>A (p.Arg3646His) rs112062179
NM_005529.6(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881
NM_005529.6(HSPG2):c.12004C>G (p.Leu4002Val) rs140403186
NM_005529.6(HSPG2):c.13018G>A (p.Val4340Met) rs145687082
NM_005529.6(HSPG2):c.149A>T (p.His50Leu) rs138518139
NM_005529.6(HSPG2):c.1998+9C>T rs377228309
NM_005529.6(HSPG2):c.2074G>A (p.Val692Met) rs143669458
NM_005529.6(HSPG2):c.3056C>T (p.Pro1019Leu) rs62642528
NM_005529.6(HSPG2):c.4132G>A (p.Glu1378Lys) rs62642525
NM_005529.6(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309
NM_005529.6(HSPG2):c.5756G>A (p.Arg1919His) rs62642521
NM_005529.6(HSPG2):c.5998-7A>G rs148336692
NM_005529.6(HSPG2):c.8545G>T (p.Val2849Leu) rs147114700
NM_005529.6(HSPG2):c.9790A>G (p.Ile3264Val) rs139500146
NM_005529.7(HSPG2):c.10702G>A (p.Val3568Ile) rs115616224
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=) rs111866498
NM_005529.7(HSPG2):c.11717G>A (p.Arg3906Gln) rs78944354
NM_005529.7(HSPG2):c.12558C>T (p.Ser4186=) rs11552570
NM_005529.7(HSPG2):c.12994G>A (p.Val4332Ile) rs1138469
NM_005529.7(HSPG2):c.2596G>A (p.Gly866Ser) rs62642529
NM_005529.7(HSPG2):c.2869A>C (p.Asn957His) rs62618730
NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys) rs2229474
NM_005529.7(HSPG2):c.6114C>G (p.Ile2038Met) rs116788687
NM_005529.7(HSPG2):c.8848G>A (p.Gly2950Arg) rs41266007
NM_005529.7(HSPG2):c.8939T>A (p.Leu2980His) rs2229489
NM_005529.7(HSPG2):c.8983A>G (p.Ser2995Gly) rs2229491
NM_005529.7(HSPG2):c.9540G>A (p.Ala3180=) rs62642506
NM_005529.7(HSPG2):c.9719C>T (p.Ala3240Val) rs62642505
NM_005572.3(LMNA):c.1338T>C (p.Asp446=) rs505058
NM_005572.3(LMNA):c.1376A>G (p.Asn459Ser) rs372011095
NM_005572.3(LMNA):c.1698C>T (p.His566=) rs4641
NM_005572.3(LMNA):c.861T>C (p.Ala287=) rs538089
NM_005591.3(MRE11):c.121G>A (p.Asp41Asn) rs116679717
NM_005591.3(MRE11):c.1475C>A (p.Ala492Asp) rs61749249
NM_005591.3(MRE11):c.1811G>C (p.Arg604Pro) rs148637964
NM_005591.3(MRE11):c.426C>T (p.Asp142=) rs3218740
NM_005591.3(MRE11):c.913C>T (p.Arg305Trp) rs372000848
NM_005633.3(SOS1):c.1074+5G>C rs145155424
NM_005633.3(SOS1):c.1230G>A (p.Gln410=) rs141390073
NM_005633.3(SOS1):c.195A>C (p.Arg65=) rs7609455
NM_005633.3(SOS1):c.2122G>A (p.Ala708Thr) rs140811086
NM_005633.3(SOS1):c.2673+14T>C rs183998234
NM_005633.3(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671
NM_005633.3(SOS1):c.3391+7A>G rs201982464
NM_005633.3(SOS1):c.553A>G (p.Ile185Val) rs143962515
NM_005633.3(SOS1):c.570C>T (p.Asp190=) rs55980502
NM_005633.3(SOS1):c.749T>C (p.Val250Ala) rs139290271
NM_005691.3(ABCC9):c.2200G>A (p.Val734Ile) rs61688134
NM_005751.4(AKAP9):c.10118C>A (p.Ser3373Tyr) rs140470576
NM_005751.4(AKAP9):c.10845G>A (p.Lys3615=) rs138739292
NM_005751.4(AKAP9):c.139C>T (p.His47Tyr) rs35669569
NM_005751.4(AKAP9):c.3223T>C (p.Leu1075=) rs143712699
NM_005751.4(AKAP9):c.3246A>G (p.Ser1082=) rs760173622
NM_005751.4(AKAP9):c.3580G>A (p.Ala1194Thr) rs139965373
NM_005751.4(AKAP9):c.4709C>T (p.Ser1570Leu) rs121908566
NM_005751.4(AKAP9):c.510G>C (p.Glu170Asp) rs144888041
NM_005751.4(AKAP9):c.5284A>G (p.Lys1762Glu) rs568626378
NM_005751.4(AKAP9):c.6037G>A (p.Glu2013Lys) rs61757671
NM_005751.4(AKAP9):c.6046C>T (p.Arg2016Cys) rs376950905
NM_005751.4(AKAP9):c.6921A>G (p.Gln2307=) rs141156177
NM_005751.4(AKAP9):c.80C>T (p.Ser27Leu) rs142401936
NM_005751.4(AKAP9):c.9214-6T>C rs377532409
NM_005902.3(SMAD3):c.508A>G (p.Ile170Val) rs35874463
NM_005902.3(SMAD3):c.66G>A (p.Glu22=) rs187952791
NM_005902.3(SMAD3):c.870C>T (p.Ile290=) rs117185005
NM_005957.4(MTHFR):c.1129C>T (p.Arg377Cys) rs121434296
NM_005957.4(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131
NM_005957.4(MTHFR):c.1781G>A (p.Arg594Gln) rs2274976
NM_005957.4(MTHFR):c.665C>T (p.Ala222Val) rs1801133
NM_006005.3(WFS1):c.1277G>A (p.Cys426Tyr) rs35218685
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val) rs35031397
NM_006005.3(WFS1):c.1367G>A (p.Arg456His) rs1801208
NM_006005.3(WFS1):c.1530C>T (p.Tyr510=) rs35789242
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr) rs55814513
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser) rs1805069
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657
NM_006005.3(WFS1):c.2012C>T (p.Ala671Val) rs71530907
NM_006005.3(WFS1):c.2052G>A (p.Ala684=) rs71539668
NM_006005.3(WFS1):c.2158A>G (p.Ile720Val) rs1805070
NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu) rs28937890
NM_006005.3(WFS1):c.2247G>A (p.Thr749=) rs75096624
NM_006005.3(WFS1):c.2322G>A (p.Lys774=) rs2230721
NM_006005.3(WFS1):c.2390_2392dupACG (p.Asp797_Val798insAsp) rs397517197
NM_006005.3(WFS1):c.2433G>A (p.Lys811=) rs1046314
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874
NM_006005.3(WFS1):c.353A>C (p.Asp118Ala) rs71524349
NM_006005.3(WFS1):c.482G>A (p.Arg161Gln) rs115346085
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699
NM_006005.3(WFS1):c.9C>T (p.Ser3=) rs71524363
NM_006070.5(TFG):c.1060C>G (p.Pro354Ala) rs111356679
NM_006096.3(NDRG1):c.31G>A (p.Ala11Thr) rs145871479
NM_006158.4(NEFL):c.584C>T (p.Ala195Val) rs185200977
NM_006158.4(NEFL):c.639C>G (p.Ile213Met) rs62636522
NM_006258.4(PRKG1):c.1299C>T (p.Ser433=) rs145035655
NM_006258.4(PRKG1):c.1963-16T>G rs376174664
NM_006258.4(PRKG1):c.426C>T (p.Asp142=) rs55754654
NM_006269.1(RP1):c.2255C>T (p.Thr752Met) rs28399531
NM_006269.1(RP1):c.2991T>C (p.Asn997=) rs112667487
NM_006306.3(SMC1A):c.2197-5T>C rs2297104
NM_006308.2(HSPB3):c.347G>A (p.Arg116Gln) rs150931007
NM_006329.3(FBLN5):c.1117C>T (p.Arg373Cys) rs864309526
NM_006329.3(FBLN5):c.376G>A (p.Val126Met) rs61734479
NM_006343.2(MERTK):c.2028C>T (p.Tyr676=) rs56225811
NM_006371.4(CRTAP):c.1039C>T (p.Leu347Phe) rs115198029
NM_006415.3(SPTLC1):c.1411G>A (p.Val471Ile) rs141292904
NM_006446.4(SLCO1B1):c.1248G>A (p.Val416=) rs11045859
NM_006446.4(SLCO1B1):c.1452C>T (p.Pro484=) rs74064211
NM_006446.4(SLCO1B1):c.1738C>T (p.Arg580Ter) rs71581941
NM_006446.4(SLCO1B1):c.359+23dupA rs4149095
NM_006446.4(SLCO1B1):c.388A>G (p.Asn130Asp) rs2306283
NM_006446.4(SLCO1B1):c.411G>A (p.Ser137=) rs11045818
NM_006446.4(SLCO1B1):c.463C>A (p.Pro155Thr) rs11045819
NM_006446.4(SLCO1B1):c.521T>C (p.Val174Ala) rs4149056
NM_006446.4(SLCO1B1):c.882G>A (p.Leu294=) rs11045854
NM_006579.2(EBP):c.-74+3G>C rs188270695
NM_006579.2(EBP):c.511C>T (p.Arg171Cys) rs141925556
NM_006726.4(LRBA):c.1399A>G (p.Met467Val) rs116355217
NM_006726.4(LRBA):c.1713C>T (p.His571=) rs145812385
NM_006726.4(LRBA):c.2340A>G (p.Thr780=) rs79392371
NM_006726.4(LRBA):c.2526T>C (p.Phe842=) rs139428189
NM_006726.4(LRBA):c.4591T>G (p.Phe1531Val) rs114610541
NM_006726.4(LRBA):c.5030A>G (p.Asn1677Ser) rs17027133
NM_006726.4(LRBA):c.7597A>C (p.Thr2533Pro) rs62346982
NM_006790.2(MYOT):c.343G>A (p.Ala115Thr) rs114194130
NM_006904.6(PRKDC):c.10211G>A (p.Gly3404Glu) rs8178225
NM_006904.6(PRKDC):c.10684T>A (p.Leu3562Met) rs8178232
NM_006912.5(RIT1):c.634C>T (p.Arg212Trp) rs563231684
NM_007194.3(CHEK2):c.1100delC (p.Thr367Metfs) rs555607708
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) rs1805129
NM_007194.4(CHEK2):c.320-5T>A rs121908700
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702
NM_007215.3(POLG2):c.1247G>C (p.Gly416Ala) rs17850455
NM_007272.2(CTRC):c.156C>T (p.Asn52=) rs77373944
NM_007272.2(CTRC):c.180C>A (p.Gly60=) rs497078
NM_007272.2(CTRC):c.285C>T (p.Asp95=) rs41307798
NM_007272.2(CTRC):c.533A>G (p.Gln178Arg) rs200678111
NM_007272.2(CTRC):c.649G>A (p.Gly217Ser) rs202058123
NM_007272.2(CTRC):c.690G>A (p.Glu230=) rs75971387
NM_007272.2(CTRC):c.703G>A (p.Val235Ile) rs140993290
NM_007272.2(CTRC):c.746C>T (p.Pro249Leu)
NM_007272.2(CTRC):c.760C>T (p.Arg254Trp) rs121909293
NM_007294.3(BRCA1):c.*36C>G rs3092995
NM_007294.3(BRCA1):c.-19-10T>C rs201866997
NM_007294.3(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950
NM_007294.3(BRCA1):c.114G>A (p.Lys38=) rs1800062
NM_007294.3(BRCA1):c.1487G>A (p.Arg496His) rs28897677
NM_007294.3(BRCA1):c.1846_1848delTCT (p.Ser616del) rs80358329
NM_007294.3(BRCA1):c.1971A>G (p.Gln657=) rs28897679
NM_007294.3(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102
NM_007294.3(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850
NM_007294.3(BRCA1):c.2082C>T (p.Ser694=) rs1799949
NM_007294.3(BRCA1):c.2109A>G (p.Thr703=) rs4986844
NM_007294.3(BRCA1):c.212+21G>A rs80358147
NM_007294.3(BRCA1):c.212+23T>A rs8176128
NM_007294.3(BRCA1):c.212+3A>G rs80358083
NM_007294.3(BRCA1):c.21C>T (p.Arg7=) rs149402012
NM_007294.3(BRCA1):c.2207A>C (p.Glu736Ala) rs397507196
NM_007294.3(BRCA1):c.2232T>G (p.Ala744=) rs4986846
NM_007294.3(BRCA1):c.2311T>C (p.Leu771=) rs16940
NM_007294.3(BRCA1):c.2315T>C (p.Val772Ala) rs80357467
NM_007294.3(BRCA1):c.243A>G (p.Gln81=) rs863224418
NM_007294.3(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113
NM_007294.3(BRCA1):c.2566T>C (p.Tyr856His) rs80356892
NM_007294.3(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300
NM_007294.3(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.3(BRCA1):c.2669G>T (p.Gly890Val) rs80356874
NM_007294.3(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941
NM_007294.3(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852
NM_007294.3(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945
NM_007294.3(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942
NM_007294.3(BRCA1):c.3600G>C (p.Gln1200His) rs56214134
NM_007294.3(BRCA1):c.3699A>G (p.Lys1233=) rs368690455
NM_007294.3(BRCA1):c.3845A>T (p.Glu1282Val) rs80357217
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.3(BRCA1):c.4096+30C>T rs369055904
NM_007294.3(BRCA1):c.4113G>A (p.Gly1371=) rs147448807
NM_007294.3(BRCA1):c.425C>A (p.Pro142His) rs55971303
NM_007294.3(BRCA1):c.427G>A (p.Glu143Lys) rs80356991
NM_007294.3(BRCA1):c.4308T>C (p.Ser1436=) rs1060915
NM_007294.3(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.3(BRCA1):c.4357+17A>G rs80358180
NM_007294.3(BRCA1):c.4484+14A>G rs80358022
NM_007294.3(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744
NM_007294.3(BRCA1):c.4600G>A (p.Val1534Met) rs55815649
NM_007294.3(BRCA1):c.4635C>T (p.His1545=) rs373686790
NM_007294.3(BRCA1):c.4636G>A (p.Asp1546Asn) rs28897691
NM_007294.3(BRCA1):c.4682C>T (p.Thr1561Ile) rs56158747
NM_007294.3(BRCA1):c.4812A>G (p.Gln1604=) rs28897693
NM_007294.3(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.3(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967
NM_007294.3(BRCA1):c.4987-1G>A rs730881495
NM_007294.3(BRCA1):c.4988T>A (p.Met1663Lys) rs80357205
NM_007294.3(BRCA1):c.5138T>C (p.Val1713Ala) rs80357132
NM_007294.3(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.3(BRCA1):c.5406+33A>T rs80358092
NM_007294.3(BRCA1):c.5456A>G (p.Asn1819Ser) rs80357286
NM_007294.3(BRCA1):c.5468-10C>A rs8176316
NM_007294.3(BRCA1):c.548-17G>T rs80358014
NM_007294.3(BRCA1):c.548-18T>G rs397507251
NM_007294.3(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_007294.3(BRCA1):c.571G>A (p.Val191Ile) rs80357090
NM_007294.3(BRCA1):c.591C>T (p.Cys197=) rs1799965
NM_007294.3(BRCA1):c.593+3G>A rs80358013
NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs) rs386833395
NM_007294.3(BRCA1):c.736T>G (p.Leu246Val) rs28897675
NM_007294.3(BRCA1):c.75C>T (p.Pro25=) rs80356839
NM_007294.3(BRCA1):c.765G>A (p.Glu255=) rs62625299
NM_007294.3(BRCA1):c.81-13C>A rs56328013
NM_007294.3(BRCA1):c.81-14C>T rs80358006
NM_007294.3(BRCA1):c.987T>C (p.Asn329=) rs774849810
NM_007299.3(BRCA1):c.2021-1442G>C rs397509275
NM_007299.3(BRCA1):c.787+11_787+12delTT rs80357724
NM_007299.3(BRCA1):c.876+30G>A rs80358139
NM_007373.3(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_012073.4(CCT5):c.437A>T (p.Glu146Val) rs11557652
NM_012092.3(ICOS):c.451G>C (p.Val151Leu) rs76778263
NM_012092.3(ICOS):c.58+9T>G rs140049646
NM_012224.2(NEK1):c.1021G>A (p.Ala341Thr) rs189186475
NM_012224.2(NEK1):c.1081-8dupT rs398124255
NM_012224.2(NEK1):c.1137T>A (p.Asp379Glu) rs372585344
NM_012224.2(NEK1):c.1746A>G (p.Glu582=) rs17544885
NM_012224.2(NEK1):c.1792G>A (p.Ala598Thr) rs33933790
NM_012224.2(NEK1):c.2053G>A (p.Val685Met) rs199827465
NM_012224.2(NEK1):c.2151T>G (p.Asn717Lys) rs34324114
NM_012452.2(TNFRSF13B):c.236A>G (p.Tyr79Cys) rs72553876
NM_012452.2(TNFRSF13B):c.291T>G (p.Pro97=) rs35062843
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_012452.2(TNFRSF13B):c.512T>G (p.Leu171Arg) rs143027621
NM_012452.2(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883
NM_012452.2(TNFRSF13B):c.659T>C (p.Val220Ala) rs56063729
NM_013296.4(GPSM2):c.1739C>T (p.Ser580Leu) rs79730689
NM_013314.3(BLNK):c.472G>T (p.Ala158Ser) rs148612299
NM_014000.2(VCL):c.1542C>T (p.Val514=) rs7904077
NM_014000.2(VCL):c.1626C>T (p.Leu542=) rs150402791
NM_014000.2(VCL):c.1671C>T (p.Asp557=) rs137877092
NM_014000.2(VCL):c.2862_2864delGTT (p.Leu955del) rs397517237
NM_014014.4(SNRNP200):c.2800A>G (p.Thr934Ala) rs149616320
NM_014049.4(ACAD9):c.976G>A rs115532916
NM_014165.3(NDUFAF4):c.40C>A (p.Leu14Ile) rs145392673
NM_014236.3(GNPAT):c.1453C>T (p.Leu485=) rs370837823
NM_014236.3(GNPAT):c.1483G>A (p.Val495Ile) rs11122266
NM_014236.3(GNPAT):c.1556A>G (p.Asp519Gly) rs11558492
NM_014236.3(GNPAT):c.555A>T (p.Ile185=) rs34613633
NM_014249.3(NR2E3):c.419A>G (p.Glu140Gly) rs1805020
NM_014249.3(NR2E3):c.488T>C (p.Met163Thr) rs1805021
NM_014252.3(SLC25A15):c.117G>A (p.Thr39=) rs41396747
NM_014336.4(AIPL1):c.268G>C (p.Asp90His) rs12449580
NM_014336.4(AIPL1):c.300A>G (p.Leu100=) rs8075035
NM_014336.4(AIPL1):c.401A>T (p.Tyr134Phe) rs16955851
NM_014336.4(AIPL1):c.651A>G (p.Pro217=) rs2292546
NM_014336.4(AIPL1):c.905G>T (p.Arg302Leu) rs62637015
NM_014402.4(UQCRQ):c.108C>G (p.Pro36=) rs36093416
NM_014629.3(ARHGEF10):c.38-10T>C rs138713415
NM_014646.2(LPIN2):c.-66C>T rs116643915
NM_014646.2(LPIN2):c.1159A>G (p.Lys387Glu) rs104895501
NM_014646.2(LPIN2):c.1169-7delT rs746626720
NM_014646.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500
NM_014646.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314
NM_014646.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393
NM_014646.2(LPIN2):c.1815G>A (p.Ser605=) rs143702044
NM_014646.2(LPIN2):c.1876C>T (p.Pro626Ser) rs150806357
NM_014646.2(LPIN2):c.2223C>T (p.Ala741=) rs17555442
NM_014646.2(LPIN2):c.2568C>T (p.Leu856=) rs149862905
NM_014646.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805
NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) rs121908287
NM_014874.3(MFN2):c.150C>A (p.Ile50=) rs78841746
NM_014874.3(MFN2):c.2113G>A (p.Val705Ile) rs142271930
NM_015046.5(SETX):c.2216G>A (p.Gly739Glu) rs36024203
NM_015046.5(SETX):c.2975A>G (p.Lys992Arg) rs61742937
NM_015046.5(SETX):c.3455T>G (p.Phe1152Cys) rs3739922
NM_015046.5(SETX):c.3576T>G (p.Asp1192Glu) rs1185193
NM_015046.5(SETX):c.3754G>A (p.Gly1252Arg) rs1183768
NM_015046.5(SETX):c.4660T>G (p.Cys1554Gly) rs112089123
NM_015046.5(SETX):c.472T>G (p.Leu158Val) rs145438764
NM_015046.5(SETX):c.59G>A (p.Arg20His) rs79740039
NM_015046.5(SETX):c.7724C>T (p.Pro2575Leu) rs34000644
NM_015046.6(SETX):c.3010A>G (p.Asn1004Asp) rs77984885
NM_015074.3(KIF1B):c.2736C>T (p.Asp912=) rs150831576
NM_015074.3(KIF1B):c.5294C>T (p.Pro1765Leu) rs61999305
NM_015139.2(SLC35D1):c.814G>A (p.Ala272Thr) rs143218310
NM_015340.3(LARS2):c.765G>A (p.Ala255=) rs116272561
NM_015340.3(LARS2):c.972C>A (p.His324Gln) rs71645922
NM_015404.3(WHRN):c.1048C>T (p.Arg350Trp) rs142990800
NM_015404.3(WHRN):c.33C>G (p.Ser11Arg) rs45527543
NM_015506.2(MMACHC):c.178G>C (p.Asp60His) rs6662272
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015560.2(OPA1):c.2131C>T (p.Arg711Ter) rs863224906
NM_015560.2(OPA1):c.575C>T (p.Ala192Val) rs34307082
NM_015697.8(COQ2):c.196G>T (p.Val66Leu) rs6818847
NM_015697.8(COQ2):c.64A>C (p.Arg22=) rs112033303
NM_015713.4(RRM2B):c.431C>T (p.Thr144Ile) rs515726189
NM_016013.3(NDUFAF1):c.526G>A (p.Glu176Lys) rs35227875
NM_016038.2(SBDS):c.258+2T>C rs113993993
NM_016038.3(SBDS):c.635T>C (p.Ile212Thr) rs79344818
NM_016156.5(MTMR2):c.1634A>G (p.Asn545Ser) rs558018
NM_016156.5(MTMR2):c.184_186delAGG (p.Arg62del) rs141498429
NM_016169.3(SUFU):c.1245C>T (p.Gly415=) rs144158469
NM_016169.3(SUFU):c.600C>T (p.Ile200=) rs149513330
NM_016169.3(SUFU):c.839G>A (p.Arg280Gln) rs145704867
NM_016239.3(MYO15A):c.10431T>C (p.Tyr3477=) rs854800
NM_016239.3(MYO15A):c.1783G>A (p.Ala595Thr) rs2955365
NM_016239.3(MYO15A):c.2680C>T (p.Pro894Ser) rs76707172
NM_016239.3(MYO15A):c.3659G>A (p.Gly1220Glu) rs201689819
NM_016239.3(MYO15A):c.4888C>T (p.Arg1630Cys) rs138861831
NM_016239.3(MYO15A):c.6796G>A (p.Val2266Met) rs114274755
NM_016239.3(MYO15A):c.858C>G (p.Pro286=) rs200424851
NM_016239.3(MYO15A):c.9620G>A (p.Arg3207His) rs199621031
NM_016346.3(NR2E3):c.119-2A>C rs2723341
NM_016938.4(EFEMP2):c.1188C>T (p.Ser396=) rs2234473
NM_016938.4(EFEMP2):c.139C>T (p.Pro47Ser) rs144320036
NM_016938.4(EFEMP2):c.368-4G>A rs111550973
NM_016941.3(DLL3):c.1143C>T (p.Ala381=) rs367573123
NM_016941.3(DLL3):c.1384G>A (p.Ala462Thr) rs182454962
NM_016941.3(DLL3):c.425T>A (p.Leu142Gln) rs55741253
NM_017433.4(MYO3A):c.1643C>A (p.Pro548His) rs143918373
NM_017636.3(TRPM4):c.1368C>G (p.Thr456=) rs56118173
NM_017636.3(TRPM4):c.2531G>A (p.Gly844Asp) rs200038418
NM_017636.3(TRPM4):c.2740A>T (p.Lys914Ter) rs140799936
NM_017636.3(TRPM4):c.3611C>T (p.Pro1204Leu) rs150391806
NM_017780.3(CHD7):c.1018A>G (p.Met340Val) rs41305525
NM_017780.3(CHD7):c.1665+34G>A rs7836586
NM_017780.3(CHD7):c.2238+39G>A rs4540437
NM_017780.3(CHD7):c.2614-14delT rs748282026
NM_017780.3(CHD7):c.307T>A (p.Ser103Thr) rs41272435
NM_017780.3(CHD7):c.6111C>T (p.Pro2037=) rs41312170
NM_017780.3(CHD7):c.6738G>A (p.Glu2246=) rs61729627
NM_017780.3(CHD7):c.7209G>A (p.Arg2403=) rs61746518
NM_017780.3(CHD7):c.7356A>G (p.Thr2452=) rs2272727
NM_017780.3(CHD7):c.8610G>A (p.Ala2870=) rs375459176
NM_017780.4(CHD7):c.6771C>T (p.Pro2257=) rs367615733
NM_017866.5(TMEM70):c.684C>G (p.Asn228Lys) rs35564486
NM_017882.2(CLN6):c.34G>A (p.Ala12Thr) rs112239768
NM_017882.2(CLN6):c.486+8C>T rs149692285
NM_018006.4(TRMU):c.1192C>T (p.Arg398Cys) rs34152016
NM_018006.4(TRMU):c.28G>T (p.Ala10Ser) rs11090865
NM_018006.4(TRMU):c.442G>A (p.Glu148Lys) rs34012206
NM_018055.4(NODAL):c.588C>G (p.Leu196=) rs2231959
NM_018081.2(WRAP53):c.1223G>A (p.Gly408Asp) rs116535684
NM_018081.2(WRAP53):c.1308T>C (p.Ala436=) rs34016213
NM_018081.2(WRAP53):c.31C>T (p.Pro11Ser) rs17880282
NM_018081.2(WRAP53):c.450C>T (p.Phe150=) rs2287498
NM_018122.5(DARS2):c.1013G>A (p.Gly338Glu) rs141298312
NM_018319.3(TDP1):c.302C>T (p.Pro101Leu) rs35455108
NM_018400.3(SCN3B):c.328G>A (p.Val110Ile) rs147205617
NM_018706.5(DHTKD1):c.2185G>A rs117225135
NM_018947.5(CYCS):c.-6T>G rs11267038
NM_018979.3(WNK1):c.2664A>G (p.Val888=) rs769020140
NM_018979.3(WNK1):c.3578G>A (p.Ser1193Asn) rs72650720
NM_018979.3(WNK1):c.4605_4607delCAG (p.Ser1536del) rs567183841
NM_019844.3(SLCO1B3):c.1977G>A (p.Ser659=) rs60571683
NM_019844.3(SLCO1B3):c.767G>C (p.Gly256Ala) rs60140950
NM_020070.3(IGLL1):c.425C>T (p.Pro142Leu) rs1064422
NM_020070.3(IGLL1):c.616A>T (p.Thr206Ser) rs139491925
NM_020247.4(COQ8A):c.993C>T (p.Phe331=) rs41303129
NM_020312.3(COQ9):c.79C>G (p.Arg27Gly) rs140264612
NM_020312.3(COQ9):c.864G>C (p.Lys288Asn) rs61730662
NM_020312.4(COQ9):c.362T>C (p.Ile121Thr) rs547254482
NM_020320.3(RARS2):c.472_474delAAA (p.Lys158del) rs757743894
NM_020320.3(RARS2):c.606C>T (p.Leu202=) rs75794097
NM_020320.3(RARS2):c.703G>A (p.Val235Met) rs35862137
NM_020366.3(RPGRIP1):c.3719G>A (p.Gly1240Glu) rs34725281
NM_020476.2(ANK1):c.1320G>A (p.Pro440=) rs28533718
NM_020476.2(ANK1):c.1782C>A (p.Ser594=) rs61753679
NM_020476.2(ANK1):c.1856G>A (p.Arg619His) rs2304877
NM_020476.2(ANK1):c.2073C>T (p.Gly691=) rs1137177
NM_020476.2(ANK1):c.2349C>T (p.Thr783=) rs2304880
NM_020476.2(ANK1):c.2913G>C (p.Leu971=) rs504574
NM_020476.2(ANK1):c.315C>T (p.Asn105=) rs2304871
NM_020476.2(ANK1):c.3486C>T (p.Ser1162=) rs35964634
NM_020476.2(ANK1):c.4101C>T (p.Ala1367=) rs7816734
NM_020476.2(ANK1):c.4385C>T (p.Ala1462Val) rs34664882
NM_020476.2(ANK1):c.4506C>T (p.Arg1502=) rs34265667
NM_020476.2(ANK1):c.450A>G (p.Val150=) rs6982971
NM_020476.2(ANK1):c.5265G>A (p.Val1755=) rs750625
NM_020476.2(ANK1):c.5479-3T>C rs515071
NM_020476.2(ANK1):c.597G>A (p.Pro199=) rs2304873
NM_020476.2(ANK1):c.909+7A>G rs17661203
NM_020529.2(NFKBIA):c.243C>T (p.Ala81=) rs2233412
NM_020529.2(NFKBIA):c.581G>C (p.Gly194Ala) rs148656104
NM_020630.4(RET):c.1998G>T (p.Lys666Asn) rs146646971
NM_020630.5(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020631.4(PLEKHG5):c.1254C>G (p.Pro418=) rs139904931
NM_020631.4(PLEKHG5):c.2594A>G (p.Gln865Arg) rs3007419
NM_020631.4(PLEKHG5):c.260T>C (p.Ile87Thr) rs117505788
NM_020631.4(PLEKHG5):c.918C>T (p.Asp306=) rs111624565
NM_020661.2(AICDA):c.210A>G (p.Leu70=) rs104894984
NM_020742.3(NLGN4X):c.1777C>T (p.Leu593Phe) rs3747333
NM_020742.3(NLGN4X):c.1779C>G (p.Leu593=) rs3747334
NM_020800.2(IFT80):c.721G>C (p.Gly241Arg) rs138004478
NM_020919.3(ALS2):c.2241C>T (p.Tyr747=) rs3219160
NM_020919.3(ALS2):c.280A>G (p.Ile94Val) rs3219154
NM_020919.3(ALS2):c.475G>A (p.Glu159Lys) rs3219155
NM_020937.3(FANCM):c.2670T>C (p.Phe890=) rs8017226