ClinVar Miner

Variants from Genetic Services Laboratory, University of Chicago with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Genetic Services Laboratory, University of Chicago: Collection method of the submission from Genetic Services Laboratory, University of Chicago:
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
6658 2633 105 4298 1970 47 299 6021

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
Genetic Services Laboratory, University of Chicago pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response protective risk factor other
pathogenic 74 197 57 3 2 0 1 3 1 17 4
likely pathogenic 125 4 82 10 4 0 0 0 0 0 1
uncertain significance 68 48 8 954 488 0 0 0 0 3 1
likely benign 29 9 700 12 3024 0 0 0 4 6 3
benign 11 3 185 952 7 1 0 1 0 2 1
other 4 4 2 2 3 2 3 3 0 1 0

Submitter to submitter summary #

Total submitters: 170
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
GeneDx 0 2037 0 1638 598 0 49 2284
Invitae 0 1435 0 1626 595 4 49 2271
Illumina Clinical Services Laboratory,Illumina 0 1872 0 1177 594 2 30 1801
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1562 0 1087 476 10 32 1603
PreventionGenetics 0 1100 0 1411 127 3 4 1542
Ambry Genetics 0 1139 0 844 333 1 12 1186
Athena Diagnostics Inc 0 508 0 575 96 0 10 680
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 471 0 490 82 1 3 576
Integrated Genetics/Laboratory Corporation of America 0 248 1 181 58 1 2 242
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 311 0 169 67 0 2 237
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 156 0 211 15 0 0 226
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 189 0 171 31 0 4 206
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 125 0 175 16 0 5 196
Color 0 169 0 100 69 0 2 171
Biesecker Lab/Human Development Section,National Institutes of Health 0 98 19 82 60 0 0 161
OMIM 0 286 0 58 13 36 49 154
GeneReviews 0 77 76 45 9 2 19 149
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 104 0 110 19 0 1 130
Counsyl 0 220 0 81 30 1 8 120
CeGaT Praxis fuer Humangenetik Tuebingen 0 106 0 13 63 0 12 88
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 58 0 72 10 0 0 82
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 67 0 61 16 0 0 77
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 109 0 44 24 0 3 71
Department of Pathology and Laboratory Medicine,Sinai Health System 0 31 0 46 8 0 0 54
Quest Diagnostics Nichols Institute San Juan Capistrano 0 78 0 38 12 0 1 51
Center for Human Genetics, Inc 0 36 0 18 19 0 2 39
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 30 0 32 6 0 0 38
Fulgent Genetics 0 388 0 31 4 0 1 36
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 26 0 33 1 0 0 34
Breast Cancer Information Core (BIC) (BRCA2) 0 12 0 8 23 0 1 32
Baylor Miraca Genetics Laboratories, 0 55 0 16 11 0 4 31
Sharing Clinical Reports Project (SCRP) 0 24 0 21 7 0 0 28
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 24 0 11 13 0 2 26
SIB Swiss Institute of Bioinformatics 0 18 0 23 1 0 2 26
Michigan Medical Genetics Laboratories,University of Michigan 0 16 0 23 1 0 0 24
RettBASE 0 95 0 18 1 0 5 24
CSER_CC_NCGL; University of Washington Medical Center 0 35 0 3 16 0 4 23
True Health Diagnostics 0 63 0 15 8 0 0 23
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 30 0 6 5 1 8 20
Wong Mito Lab, Molecular and Human Genetics,Baylor College of Medicine 0 8 0 11 6 0 2 19
Mendelics 0 52 0 4 13 0 1 18
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 32 0 7 2 1 7 17
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 0 0 0 0 0 0 17 17
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 45 0 6 7 0 3 16
Claritas Genomics 0 8 0 14 2 0 0 16
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 15 1 9 5 0 0 15
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 4 9 0 0 0 13
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 4 0 12 1 0 0 13
Breast Cancer Information Core (BIC) (BRCA1) 0 18 0 2 10 0 0 12
Pathway Genomics 0 15 0 11 1 0 0 12
Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research 0 7 0 3 7 0 1 11
GeneKor MSA 0 32 0 6 4 0 1 11
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 4 0 1 4 0 6 11
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 8 0 6 1 0 2 9
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 3 0 6 0 0 3 9
UCLA Clinical Genomics Center, UCLA 0 1 0 8 0 0 1 9
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 15 0 4 4 1 0 9
Vantari Genetics 0 20 0 8 1 0 0 9
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 40 0 6 2 0 1 9
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 15 0 7 2 0 0 9
University of Washington Department of Laboratory Medicine,University of Washington 0 13 0 3 6 0 0 9
Genetic Services Laboratory, University of Chicago 15287 17 0 0 7 0 1 8
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 18 0 7 0 0 1 8
Division of Human Genetics,Children's Hospital of Philadelphia 0 15 0 4 1 0 3 8
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 3 0 7 1 0 0 8
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 6 0 0 2 8
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 3 0 7 1 0 0 8
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 11 0 8 0 0 0 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 17 0 0 8 0 0 8
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 9 0 5 3 0 0 8
Blueprint Genetics, 0 8 0 1 5 0 0 6
PharmGKB 0 0 0 0 0 6 0 6
Center for Genetic Medicine Research,Children's National Medical Center 0 4 0 4 2 0 0 6
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 5 0 2 2 0 2 6
Database of Curated Mutations (DoCM) 0 2 0 5 0 0 1 6
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 8 0 3 2 0 1 6
Phosphorus, Inc. 0 10 0 4 2 0 0 6
Institute of Human Genetics,Klinikum rechts der Isar 0 9 0 2 0 0 3 5
HudsonAlpha Institute for Biotechnology 0 24 0 4 1 0 0 5
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 8 0 1 3 0 1 5
NIHR Bioresource Rare Diseases,University of Cambridge 0 3 0 3 0 0 2 5
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 3 0 1 0 0 4
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 7 0 3 1 0 0 4
University of Washington Center for Mendelian Genomics,University of Washington 0 1 0 4 0 0 0 4
Department of Medical Genetics,University Hospital of North Norway 0 2 0 2 2 0 0 4
Gharavi Laboratory,Columbia University 0 3 0 2 1 0 1 4
UW Hindbrain Malformation Research Program,University of Washington 0 13 0 1 0 0 2 3
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 0 0 3 0 0 0 3
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 7 0 3 0 0 0 3
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 4 0 3 0 0 0 3
Elsea Laboratory,Baylor College of Medicine 0 0 0 0 0 0 2 2
Institute of Human Genetics,Cologne University 0 0 0 1 0 0 1 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 6 0 1 1 0 0 2
Shaikh Laboratory, University of Colorado 0 0 0 2 0 0 0 2
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 1 0 0 2 0 0 2
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 1 2
Dobyns Lab,Seattle Children's Research Institute 0 1 0 1 0 0 1 2
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 0 0 1 0 0 1 2
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 0 2 0 0 2 0 0 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 2 0 1 1 0 0 2
Neurogenetics Laboratory - MEYER,AOU Meyer 0 7 0 1 0 0 1 2
ARUP Institute,ARUP Laboratories 0 5 0 0 0 0 2 2
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 0 1 0 1 1 0 0 2
Department of Pathology and Molecular Medicine,Queen's University 0 7 0 1 1 0 0 2
Tolun Lab, Human Genetics Laboratory,Bogazici University 0 0 0 0 2 0 0 2
Laboratory of Molecular Neuropathology,The University of Texas Health Science Center at Houston 0 0 0 0 1 0 1 2
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 0 1 0 1 2
Center for Precision Medicine,Vanderbilt University Medical Center 0 0 0 0 1 0 1 2
Medical Genetics Summaries 0 0 0 0 0 2 0 2
Laboratoire de Cytogenetique,Hospices Civils de Lyon 0 2 0 1 0 0 1 2
ClinGen CDH1 Variant Curation Expert Panel 0 0 0 2 0 0 0 2
Johns Hopkins Genomics,Johns Hopkins University 0 2 0 0 1 0 1 2
Clinical Genetics,University of Leipzig 0 0 0 1 0 0 1 2
Molecular Genetics Laboratory,Children's Mercy Hospital and Clinics 0 12 0 1 0 0 0 1
MVZ Dortmund,Dr. Eberhard & Partner 0 0 0 0 1 0 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 0 16 0 0 0 0 1 1
UniProtKB/Swiss-Prot 0 19 1 0 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 1 0 1 0 0 0 1
Eye Genetics Research Group,Children's Medical Research Institute 0 0 0 0 1 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 10 0 1 0 0 0 1
PALB2 database 0 7 0 0 1 0 0 1
Department of Genetics,Robert DEBRE University Hospital 0 0 0 1 0 0 0 1
Wellcome Centre for Mitochondrial Research,Newcastle University 0 1 0 0 0 0 1 1
TilsonLab,Columbia University 0 0 0 0 0 0 1 1
CHU Sainte-Justine Research Center,University of Montreal 0 2 0 1 0 0 0 1
Institute for Integrative and Experimental Genomics,University of Luebeck 0 1 0 0 1 0 0 1
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 0 0 0 1 0 0 0 1
Department of Neurology, University Hospital of Strasbourg 0 0 0 0 0 0 1 1
Endocrine Unit 2,University Hospital of Pisa 0 0 0 0 1 0 0 1
Neurogenetics of motion laboratory,Montreal Neurological Institute 0 2 0 1 0 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 7 0 0 1 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 0 10 0 1 0 0 0 1
Centre for Genomic and Experimental Medicine,University of Edinburgh 0 1 0 0 0 0 1 1
UCL Genetics Institute,UCL 0 0 0 0 0 1 0 1
McDonnell Genome Institute,Washington University in St. Louis 0 0 0 0 0 0 1 1
Center for Human Genetics,University of Leuven 0 0 0 1 0 0 0 1
Clinical Genetics, Erasmus University Medical Center 0 0 0 0 0 0 1 1
Medical Research Institute,Tokyo Medical and Dental University 0 0 0 1 0 0 0 1
Leeds Amelogenesis Imperfecta Research Group,Leeds University 0 0 0 0 0 0 1 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 1 0 1 0 0 0 1
Laboratory of Molecular Genetics,CHU RENNES 0 0 0 0 0 0 1 1
Diagnostic Laboratory,Strasbourg University Hospital 0 3 0 1 0 0 0 1
Translational Genomics Laboratory,University of Maryland School of Medicine 0 2 0 1 0 0 0 1
University of Arizona Genetics Core,University of Arizona 0 0 0 0 0 0 1 1
GenePathDx,Causeway Health Care Private Ltd 0 0 0 1 0 0 0 1
Daryl Scott Lab,Baylor College of Medicine 0 0 0 0 0 1 0 1
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 0 5 0 0 1 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 0 0 0 0 0 0 1 1
Endocrine oncology group,Uppsala University 0 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 0 0 0 0 0 0 1 1
Fundacion Hipercolesterolemia Familiar 0 0 0 1 0 0 0 1
Iberoamerican FH Network 0 0 0 1 0 0 0 1
Section on Medical Neuroendocrinolgy,National Institutes of Health 0 0 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 0 0 0 1 1
Snyder Lab, Genetics Department,Stanford University 0 1 0 0 0 0 1 1
Kariminejad - Najmabadi Pathology & Genetics Center 0 0 0 1 0 0 0 1
Dan Cohn Lab,University Of California Los Angeles 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
ClinGen RASopathy Variant Curation Expert Panel, 0 3 0 1 0 0 0 1
Molecular Development Laboratory,Murdoch Childrens Research Institute 0 0 0 0 0 0 1 1
Tampere Brain Tumor Research Consortium,University of Tampere 0 0 0 0 0 0 1 1
Laboratory of Medical Genetics,INSERM 0 2 0 0 0 0 1 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 0 0 1 1
Carola Vinuesa Lab,John Curtin School of Medical Research 0 0 0 0 0 0 1 1
Broad Institute Rare Disease Group,Broad Institute 0 8 0 1 0 0 0 1
Genomic Medicine Theme, NIHR Oxford Biomedical Research Centre,University of Oxford 0 0 0 0 1 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 5 0 1 0 0 0 1
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 4 0 0 1 0 0 1
ClinGen Hearing Loss Variant Curation Expert Panel, 0 4 0 1 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 6021
Download table as spreadsheet
HGVS dbSNP
NM_000018.3(ACADVL):c.848T>C (p.Val283Ala) rs113994167
NM_000022.3(ADA):c.606+10G>A rs201045221
NM_000023.3(SGCA):c.101G>A (p.Arg34His) rs371675217
NM_000023.3(SGCA):c.528C>T (p.Thr176=) rs1801190
NM_000023.3(SGCA):c.933C>T (p.Val311=) rs1801191
NM_000026.2(ADSL):c.953C>T (p.Pro318Leu) rs202064195
NM_000026.3(ADSL):c.124C>T (p.Leu42=) rs2228415
NM_000026.3(ADSL):c.358-4G>A rs113199851
NM_000026.3(ADSL):c.440A>T (p.Lys147Met) rs11089991
NM_000032.4(ALAS2):c.1560C>A (p.Pro520=) rs150055592
NM_000038.5(APC):c.1959G>A (p.Arg653=) rs72541809
NM_000038.5(APC):c.6921G>A (p.Ser2307=) rs2229993
NM_000038.5(APC):c.7415C>T (p.Ala2472Val) rs200399245
NM_000038.5(APC):c.7862C>G (p.Ser2621Cys) rs72541816
NM_000043.5(FAS):c.369G>A (p.Gln123=) rs28362318
NM_000044.4(AR):c.1174C>T (p.Pro392Ser) rs201934623
NM_000044.4(AR):c.1412_1420del (p.Gly471_Gly473del) rs746853821
NM_000044.4(AR):c.231_239del (p.Gln78_Gln80del) rs3032358
NM_000044.4(AR):c.237_239dup (p.Gln80_Glu81insGln) rs3032358
NM_000047.2(ARSE):c.36G>C (p.Arg12Ser) rs122460151
NM_000048.3(ASL):c.1164C>T (p.His388=) rs75300185
NM_000048.3(ASL):c.35G>A (p.Arg12Gln) rs145138923
NM_000050.4(ASS1):c.501C>T (p.His167=) rs10901072
NM_000050.4(ASS1):c.805G>A (p.Val269Met) rs370595480
NM_000050.4(ASS1):c.970G>A (p.Gly324Ser) rs121908639
NM_000051.3(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.3(ATM):c.1066-6T>G rs201686625
NM_000051.3(ATM):c.1073A>G (p.Asn358Ser) rs149636614
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1380G>C (p.Thr460=) rs145333518
NM_000051.3(ATM):c.146C>G (p.Ser49Cys) rs1800054
NM_000051.3(ATM):c.162T>C (p.Tyr54=) rs3218690
NM_000051.3(ATM):c.1744T>C (p.Phe582Leu) rs2235006
NM_000051.3(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.2284_2285delCT (p.Leu762Valfs) rs587781658
NM_000051.3(ATM):c.2362A>C (p.Ser788Arg) rs641252
NM_000051.3(ATM):c.2494C>T (p.Arg832Cys) rs2229022
NM_000051.3(ATM):c.2922-8T>A rs545892367
NM_000051.3(ATM):c.3014A>G (p.Asn1005Ser) rs146531614
NM_000051.3(ATM):c.3118A>G (p.Met1040Val) rs3092857
NM_000051.3(ATM):c.334G>A (p.Ala112Thr) rs146382972
NM_000051.3(ATM):c.3403-14dupA rs3218681
NM_000051.3(ATM):c.3517T>C (p.Leu1173=) rs141460670
NM_000051.3(ATM):c.378T>A (p.Asp126Glu) rs2234997
NM_000051.3(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.3(ATM):c.3927A>G (p.Ala1309=) rs1555093665
NM_000051.3(ATM):c.3993+5G>T rs3092842
NM_000051.3(ATM):c.4060C>A (p.Pro1354Thr) rs145119475
NM_000051.3(ATM):c.4066A>G (p.Asn1356Asp) rs147600485
NM_000051.3(ATM):c.4258C>T (p.Leu1420Phe) rs1800058
NM_000051.3(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.3(ATM):c.4578C>T (p.Pro1526=) rs1800889
NM_000051.3(ATM):c.4709T>C (p.Val1570Ala) rs140856217
NM_000051.3(ATM):c.5005+7_5005+8delTA rs587780626
NM_000051.3(ATM):c.5190A>G (p.Arg1730=) rs786201609
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.6088A>G (p.Ile2030Val) rs145847315
NM_000051.3(ATM):c.6176C>T (p.Thr2059Ile) rs144761622
NM_000051.3(ATM):c.6235G>A (p.Val2079Ile) rs1800060
NM_000051.3(ATM):c.6437G>C (p.Ser2146Thr) rs56815840
NM_000051.3(ATM):c.657T>C (p.Cys219=) rs2235003
NM_000051.3(ATM):c.6795C>T (p.Phe2265=) rs3218699
NM_000051.3(ATM):c.6919C>T (p.Leu2307Phe) rs56009889
NM_000051.3(ATM):c.7271T>G (p.Val2424Gly) rs28904921
NM_000051.3(ATM):c.7928-10T>C rs188404773
NM_000052.6(ATP7A):c.1516A>G (p.Ile506Val) rs143907597
NM_000052.6(ATP7A):c.1707+6T>A rs797045334
NM_000052.6(ATP7A):c.2070A>G (p.Glu690=) rs146692150
NM_000052.6(ATP7A):c.2452A>G (p.Thr818Ala) rs201788154
NM_000052.6(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687
NM_000052.6(ATP7A):c.3002C>T (p.Pro1001Leu) rs797045365
NM_000052.6(ATP7A):c.3931A>G (p.Met1311Val) rs139781067
NM_000052.6(ATP7A):c.4226+11T>C rs200009243
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.1877G>C (p.Gly626Ala) rs587783299
NM_000053.3(ATP7B):c.1934T>G (p.Met645Arg) rs121907998
NM_000053.3(ATP7B):c.1969A>C (p.Ser657Arg) rs372436901
NM_000053.3(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.3(ATP7B):c.2002A>G (p.Met668Val) rs587783301
NM_000053.3(ATP7B):c.2122-8T>G rs193922102
NM_000053.3(ATP7B):c.2175G>A (p.Arg725=) rs61733684
NM_000053.3(ATP7B):c.2293G>A (p.Asp765Asn) rs28942075
NM_000053.3(ATP7B):c.2310C>G (p.Leu770=) rs398123136
NM_000053.3(ATP7B):c.2355+13T>G rs139211339
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.2865+1G>A rs587783306
NM_000053.3(ATP7B):c.2866-13G>C rs7325983
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.3045G>A (p.Leu1015=) rs1801248
NM_000053.3(ATP7B):c.3188C>T (p.Ala1063Val) rs587783309
NM_000053.3(ATP7B):c.3207C>A (p.His1069Gln) rs76151636
NM_000053.3(ATP7B):c.3324C>T (p.Asn1108=) rs372456815
NM_000053.3(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249
NM_000053.3(ATP7B):c.3498T>C (p.Ser1166=) rs587783314
NM_000053.3(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000053.3(ATP7B):c.3620A>G (p.His1207Arg) rs7334118
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.4311G>A (p.Lys1437=) rs73202048
NM_000057.3(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.3(BLM):c.1928G>A (p.Arg643His) rs12720097
NM_000057.3(BLM):c.2075-12G>T rs28385027
NM_000057.3(BLM):c.2263A>G (p.Lys755Glu) rs142551229
NM_000057.3(BLM):c.2333C>G (p.Ser778Cys) rs139610577
NM_000057.3(BLM):c.2555+7T>C rs3815003
NM_000057.3(BLM):c.2603C>T (p.Pro868Leu) rs2227935
NM_000057.3(BLM):c.3102G>A (p.Thr1034=) rs2227933
NM_000057.3(BLM):c.3128C>A (p.Ala1043Asp) rs2229035
NM_000057.3(BLM):c.3531C>A (p.Ala1177=) rs2227934
NM_000057.3(BLM):c.3625T>A (p.Ser1209Thr) rs1801256
NM_000057.3(BLM):c.3798T>G (p.Val1266=) rs138831180
NM_000057.3(BLM):c.3945C>T (p.Leu1315=) rs1063147
NM_000057.3(BLM):c.3961G>A (p.Val1321Ile) rs7167216
NM_000057.3(BLM):c.4076+4T>G rs183176301
NM_000057.3(BLM):c.615G>A (p.Lys205=) rs28903082
NM_000059.3(BRCA2):c.-11C>T rs76874770
NM_000059.3(BRCA2):c.-175C>T rs55880202
NM_000059.3(BRCA2):c.-59_-57delGAA rs545321666
NM_000059.3(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.3(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475
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.1514T>C (p.Ile505Thr) rs28897708
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+9_1909+10delGT rs527732001
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.2524G>C (p.Val842Leu) rs587782454
NM_000059.3(BRCA2):c.2883G>A (p.Gln961=) rs11571655
NM_000059.3(BRCA2):c.2926T>A (p.Ser976Thr) rs144862123
NM_000059.3(BRCA2):c.2927C>T (p.Ser976Phe) rs11571656
NM_000059.3(BRCA2):c.3516G>A (p.Ser1172=) rs1799952
NM_000059.3(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485
NM_000059.3(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656
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.5070A>C (p.Lys1690Asn) rs56087561
NM_000059.3(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415
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.5710C>G (p.Leu1904Val) rs55875643
NM_000059.3(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803
NM_000059.3(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375
NM_000059.3(BRCA2):c.5885T>C (p.Ile1962Thr) rs1060502377
NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs) rs80359550
NM_000059.3(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.3(BRCA2):c.6131G>T (p.Gly2044Val) rs56191579
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.6531T>A (p.Ile2177=) rs587780658
NM_000059.3(BRCA2):c.6540G>C (p.Leu2180Phe) rs398122560
NM_000059.3(BRCA2):c.6748A>G (p.Thr2250Ala) rs80358899
NM_000059.3(BRCA2):c.68-7T>A rs81002830
NM_000059.3(BRCA2):c.7008-62A>G rs76584943
NM_000059.3(BRCA2):c.708T>C (p.His236=) rs185506536
NM_000059.3(BRCA2):c.7435+6G>A rs81002852
NM_000059.3(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624
NM_000059.3(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749
NM_000059.3(BRCA2):c.8355T>C (p.Pro2785=) rs1057524419
NM_000059.3(BRCA2):c.8488-5T>C rs533806629
NM_000059.3(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.3(BRCA2):c.9116C>T (p.Pro3039Leu) rs80359167
NM_000059.3(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759
NM_000059.3(BRCA2):c.9396A>G (p.Lys3132=) rs201172050
NM_000059.3(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000070.2(CAPN3):c.1029+3A>G rs28364442
NM_000070.2(CAPN3):c.1355-6G>A rs28364485
NM_000070.2(CAPN3):c.1830C>T (p.Asn610=) rs202019404
NM_000070.2(CAPN3):c.2207_2208delCA (p.Thr736Argfs) rs587780289
NM_000070.2(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290
NM_000070.2(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625
NM_000070.2(CAPN3):c.2362_2363delAGinsTCATCT (p.Arg788Serfs) rs1555423217
NM_000070.2(CAPN3):c.327_328dupCC (p.Arg110Profs) rs797045427
NM_000070.2(CAPN3):c.371G>C (p.Gly124Ala) rs587780291
NM_000070.2(CAPN3):c.479C>G (p.Ala160Gly) rs17592
NM_000070.2(CAPN3):c.551C>T (p.Thr184Met) rs35889956
NM_000070.2(CAPN3):c.606T>C (p.Ser202=) rs17593
NM_000070.2(CAPN3):c.62G>A (p.Gly21Glu) rs28364364
NM_000070.2(CAPN3):c.78G>A (p.Pro26=) rs62642519
NM_000070.2(CAPN3):c.939G>A (p.Pro313=) rs78369269
NM_000070.2(CAPN3):c.96T>C (p.Thr32=) rs1801496
NM_000076.2(CDKN1C):c.528G>C (p.Ala176=) rs533485167
NM_000076.2(CDKN1C):c.555T>C (p.Ala185=) rs191294997
NM_000076.2(CDKN1C):c.600_611delAGCCCCGGCCCC (p.Ala213_Pro216del) rs878853634
NM_000076.2(CDKN1C):c.624_629dupGGCCCC (p.Pro216_Asp217insAlaPro) rs759134767
NM_000076.2(CDKN1C):c.708G>A (p.Glu236=) rs3741341
NM_000079.3(CHRNA1):c.1073A>T (p.Asp358Val) rs6739001
NM_000079.3(CHRNA1):c.540+4G>C rs112674580
NM_000079.3(CHRNA1):c.643G>A (p.Asp215Asn) rs148304857
NM_000079.3(CHRNA1):c.960C>T (p.His320=) rs2229957
NM_000080.3(CHRNE):c.1017C>G (p.Ser339=) rs114454383
NM_000080.3(CHRNE):c.1033-6C>T rs2075763
NM_000080.3(CHRNE):c.1305A>G (p.Arg435=) rs55681486
NM_000080.3(CHRNE):c.1402G>C (p.Val468Leu) rs139171143
NM_000080.3(CHRNE):c.345-7C>T rs72835059
NM_000080.3(CHRNE):c.45C>T (p.Leu15=) rs34563587
NM_000080.3(CHRNE):c.519C>T (p.Ala173=) rs33970119
NM_000080.3(CHRNE):c.53G>T (p.Gly18Val) rs4790235
NM_000081.3(LYST):c.10800+4G>T rs41308172
NM_000081.3(LYST):c.2769A>C (p.Ser923=) rs112739986
NM_000081.3(LYST):c.281C>T (p.Thr94Ile) rs777389303
NM_000081.3(LYST):c.5461-3dup rs557545474
NM_000081.3(LYST):c.5518T>G (p.Ser1840Ala) rs115330112
NM_000081.3(LYST):c.5945C>T (p.Thr1982Ile) rs146591126
NM_000081.3(LYST):c.6710A>C (p.Gln2237Pro) rs138443479
NM_000081.3(LYST):c.7368T>C (p.Asn2456=) rs199631995
NM_000081.3(LYST):c.7506A>G (p.Gln2502=) rs140434436
NM_000096.3(CP):c.1099C>T (p.Arg367Cys) rs34624984
NM_000096.3(CP):c.1430C>T (p.Pro477Leu) rs35331711
NM_000096.3(CP):c.1493A>G (p.Gln498Arg) rs17847018
NM_000096.3(CP):c.1652C>T (p.Thr551Ile) rs61733458
NM_000096.3(CP):c.1950A>C (p.Gly650=) rs1053709
NM_000096.3(CP):c.2522C>G (p.Thr841Arg) rs56033670
NM_000096.3(CP):c.2571C>T (p.Tyr857=) rs151304828
NM_000096.3(CP):c.2684G>C (p.Gly895Ala) rs139633388
NM_000096.3(CP):c.2793A>G (p.Leu931=) rs34987997
NM_000096.3(CP):c.2991T>C (p.His997=) rs34394958
NM_000096.3(CP):c.3182-4A>G rs34272112
NM_000100.3(CSTB):c.15G>T (p.Ala5=) rs4533
NM_000100.3(CSTB):c.67-1G>C rs147484110
NM_000110.3(DPYD):c.1905+1G>A rs3918290
NM_000110.3(DPYD):c.2846A>T (p.Asp949Val) rs67376798
NM_000118.3(ENG):c.392C>T (p.Pro131Leu) rs139398993
NM_000123.3(ERCC5):c.138T>C (p.His46=) rs1047768
NM_000123.3(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869
NM_000123.3(ERCC5):c.3310G>C (p.Asp1104His) rs17655
NM_000123.3(ERCC5):c.760A>G (p.Met254Val) rs1047769
NM_000124.3(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528
NM_000124.3(ERCC6):c.135C>G (p.Leu45=) rs2228524
NM_000124.3(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163
NM_000124.3(ERCC6):c.2551T>C (p.Trp851Arg) rs368728467
NM_000124.3(ERCC6):c.2751C>T (p.Gly917=) rs2229760
NM_000124.3(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661
NM_000124.3(ERCC6):c.3289A>G (p.Met1097Val) rs2228526
NM_000124.3(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527
NM_000124.3(ERCC6):c.3689G>C (p.Arg1230Pro) rs4253211
NM_000124.3(ERCC6):c.411G>A (p.Leu137=) rs4253013
NM_000124.3(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529
NM_000135.2(FANCA):c.1115_1118delTTGG (p.Val372Alafs) rs397507552
NM_000135.2(FANCA):c.115A>C (p.Arg39=) rs17232091
NM_000135.2(FANCA):c.1359+10C>T rs34159559
NM_000135.2(FANCA):c.1471-12A>G rs9282684
NM_000135.2(FANCA):c.1874G>C (p.Cys625Ser) rs139235751
NM_000135.2(FANCA):c.1928C>G (p.Pro643Arg) rs34592408
NM_000135.2(FANCA):c.2021C>T (p.Ser674Leu) rs17232973
NM_000135.2(FANCA):c.21G>T (p.Pro7=) rs115856189
NM_000135.2(FANCA):c.2574C>G (p.Ser858Arg) rs17233141
NM_000135.2(FANCA):c.3624C>T (p.Ser1208=) rs149797103
NM_000135.2(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.2(FANCA):c.4249C>G (p.His1417Asp) rs17227403
NM_000135.2(FANCA):c.793-9T>C rs757500718
NM_000135.3(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.3(FANCA):c.2398G>T (p.Glu800Ter) rs1555547474
NM_000135.3(FANCA):c.3482C>T (p.Thr1161Met) rs142833057
NM_000136.2(FANCC):c.*7C>T rs372511678
NM_000136.2(FANCC):c.1330-3C>T rs4647542
NM_000136.2(FANCC):c.1394A>G (p.Gln465Arg) rs1800368
NM_000136.2(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.2(FANCC):c.77C>T (p.Ser26Phe) rs1800361
NM_000136.2(FANCC):c.816C>T (p.Ile272=) rs55719336
NM_000138.4(FBN1):c.6288C>T (p.Cys2096=) rs144822241
NM_000141.4(FGFR2):c.159G>A (p.Ala53=) rs1047102
NM_000142.4(FGFR3):c.1172C>A (p.Ala391Glu) rs28931615
NM_000142.4(FGFR3):c.393G>A (p.Ser131=) rs55662109
NM_000143.3(FH):c.-11C>T rs200942733
NM_000144.4(FXN):c.179G>A (p.Arg60His) rs141858334
NM_000144.4(FXN):c.54A>G (p.Pro18=) rs2481598
NM_000146.3(FTL):c.*8C>T rs373178636
NM_000146.3(FTL):c.163T>C (p.Leu55=) rs2230267
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.3(GAA):c.271G>A (p.Asp91Asn) rs1800299
NM_000152.3(GAA):c.447G>A (p.Thr149=) rs2289536
NM_000152.4(GAA):c.-32-13T>G rs386834236
NM_000152.4(GAA):c.1374C>T (p.Tyr458=) rs1800305
NM_000152.4(GAA):c.1581G>A (p.Arg527=) rs1042396
NM_000152.4(GAA):c.1726G>A (p.Gly576Ser) rs1800307
NM_000152.4(GAA):c.2133A>G (p.Thr711=) rs1800310
NM_000152.4(GAA):c.2446G>A (p.Val816Ile) rs1800314
NM_000152.4(GAA):c.2780C>T (p.Thr927Ile) rs1800315
NM_000152.4(GAA):c.642C>T (p.Ser214=) rs1800301
NM_000152.4(GAA):c.668G>A (p.Arg223His) rs1042395
NM_000152.4(GAA):c.858+8G>A rs5822325
NM_000152.4(GAA):c.917C>T (p.Ser306Leu) rs138097673
NM_000152.4(GAA):c.921A>T (p.Ala307=) rs1800303
NM_000156.5(GAMT):c.379G>A (p.Gly127Ser) rs570476209
NM_000156.5(GAMT):c.571-6G>A rs2074899
NM_000156.5(GAMT):c.626C>T (p.Thr209Met) rs17851582
NM_000156.5(GAMT):c.79T>C (p.Tyr27His) rs200833152
NM_000158.3(GBE1):c.1521T>C (p.Thr507=) rs372821643
NM_000158.3(GBE1):c.986A>G (p.Tyr329Cys) rs80338671
NM_000162.3(GCK):c.106C>T (p.Arg36Trp) rs762263694
NM_000162.3(GCK):c.1130_1138delGCGCTGCGC (p.Arg377_Ala379del) rs1131691505
NM_000162.3(GCK):c.1253+8C>T rs2908274
NM_000162.3(GCK):c.1288C>T (p.Leu430=) rs193922276
NM_000162.3(GCK):c.1322C>T (p.Ser441Leu) rs1286804191
NM_000162.3(GCK):c.208+11G>A rs77440690
NM_000162.3(GCK):c.209-8G>A rs144798843
NM_000162.3(GCK):c.333C>T (p.Pro111=) rs61736250
NM_000162.3(GCK):c.339C>T (p.Asp113=) rs149412035
NM_000162.3(GCK):c.364C>A (p.Leu122Ile) rs1554335616
NM_000162.3(GCK):c.370G>A (p.Asp124Asn) rs759072800
NM_000162.3(GCK):c.46-12C>T rs142829768
NM_000162.3(GCK):c.616A>C (p.Thr206Pro) rs587780346
NM_000162.3(GCK):c.618G>A (p.Thr206=) rs142817246
NM_000162.4(GCK):c.31G>A (p.Ala11Thr) rs116093166
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser) rs267606845
NM_000165.5(GJA1):c.717G>A (p.Arg239=) rs57946868
NM_000168.5(GLI3):c.1182A>G (p.Pro394=) rs748606221
NM_000168.5(GLI3):c.1207G>A (p.Val403Ile) rs201070431
NM_000168.5(GLI3):c.2119C>T (p.Pro707Ser) rs121917716
NM_000168.5(GLI3):c.280C>T (p.Leu94=) rs115137047
NM_000168.5(GLI3):c.341G>A (p.Arg114Lys) rs146458902
NM_000168.5(GLI3):c.3829C>G (p.Gln1277Glu) rs146582871
NM_000173.6(GP1BA):c.1311_1349del (p.Ser441_Thr453del) rs770991996
NM_000173.6(GP1BA):c.1321_1359del (p.Ser441_Thr453del) rs1259394995
NM_000173.6(GP1BA):c.256C>T (p.Leu86Phe) rs13306411
NM_000179.2(MSH6):c.-8C>T rs565211544
NM_000179.2(MSH6):c.1050C>T (p.Ala350=) rs730881802
NM_000179.2(MSH6):c.1135_1139delAGAGA (p.Arg379Terfs) rs267608077
NM_000179.2(MSH6):c.1186C>G (p.Leu396Val) rs2020908
NM_000179.2(MSH6):c.1665A>G (p.Ala555=) rs146785465
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
NM_000179.2(MSH6):c.2667G>T (p.Gln889His) rs149945495
NM_000179.2(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875
NM_000179.2(MSH6):c.3647-6T>A rs182871847
NM_000179.2(MSH6):c.3729A>G (p.Thr1243=) rs773807182
NM_000179.2(MSH6):c.4001+2_4001+5delTAAC rs267608132
NM_000179.2(MSH6):c.4002-10T>A rs545466048
NM_000179.2(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000179.2(MSH6):c.73G>T (p.Ala25Ser) rs267608026
NM_000179.2(MSH6):c.984C>T (p.Ser328=) rs138143769
NM_000195.4(HPS1):c.1472_1487dup16 (p.His497Glnfs) rs281865163
NM_000195.4(HPS1):c.2052C>T (p.Ala684=) rs576260502
NM_000195.4(HPS1):c.557C>T (p.Ala186Val) rs1801286
NM_000207.2(INS):c.-152C>G rs748749585
NM_000207.2(INS):c.265C>T (p.Arg89Cys) rs80356669
NM_000207.2(INS):c.94G>A (p.Gly32Ser) rs80356664
NM_000208.3(INSR):c.190T>C (p.Leu64=) rs144836032
NM_000208.3(INSR):c.2243C>T (p.Ser748Leu) rs143523271
NM_000208.3(INSR):c.2838C>G (p.Asp946Glu) rs146588336
NM_000208.3(INSR):c.2971C>A (p.Leu991Ile) rs150114699
NM_000208.3(INSR):c.3034G>A (p.Val1012Met) rs1799816
NM_000208.3(INSR):c.959C>T (p.Thr320Met) rs138528064
NM_000209.3(PDX1):c.188del (p.Pro63Argfs) rs193929377
NM_000209.3(PDX1):c.285G>A (p.Pro95=) rs797045885
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=) rs4766309
NM_000217.3(KCNA1):c.684T>C (p.Cys228=) rs1048500
NM_000217.3(KCNA1):c.804G>C (p.Thr268=) rs2227910
NM_000231.2(SGCG):c.228T>C (p.Asp76=) rs1800350
NM_000231.2(SGCG):c.347G>A (p.Arg116His) rs17314986
NM_000231.2(SGCG):c.435C>T (p.Asn145=) rs35628352
NM_000231.2(SGCG):c.705T>C (p.Leu235=) rs1800353
NM_000240.3(MAOA):c.1410T>C (p.Asp470=) rs1137070
NM_000240.3(MAOA):c.385A>C (p.Arg129=) rs1800464
NM_000240.3(MAOA):c.825G>A (p.Pro275=) rs138703731
NM_000240.3(MAOA):c.891G>T (p.Arg297=) rs6323
NM_000249.3(MLH1):c.1151T>A (p.Val384Asp) rs63750447
NM_000249.3(MLH1):c.1321G>A (p.Ala441Thr) rs63750365
NM_000249.3(MLH1):c.1852A>G (p.Lys618Glu) rs35001569
NM_000249.3(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000249.3(MLH1):c.303T>G (p.Gly101=) rs4647220
NM_000249.3(MLH1):c.637G>A (p.Val213Met) rs2308317
NM_000249.3(MLH1):c.790+10A>G rs182733777
NM_000249.3(MLH1):c.974G>A (p.Arg325Gln) rs63750268
NM_000251.2(MSH2):c.1387-8G>T rs187525243
NM_000251.2(MSH2):c.1563T>C (p.Tyr521=) rs63750330
NM_000251.2(MSH2):c.1737A>G (p.Lys579=) rs61756467
NM_000251.2(MSH2):c.2006-4G>A rs369853630
NM_000251.2(MSH2):c.339G>A (p.Lys113=) rs35898375
NM_000251.2(MSH2):c.409G>C (p.Gly137Arg) rs587781795
NM_000251.2(MSH2):c.435T>G (p.Ile145Met) rs63750124
NM_000251.2(MSH2):c.815C>T (p.Ala272Val) rs34136999
NM_000251.2(MSH2):c.984C>T (p.Ala328=) rs4987189
NM_000252.2(MTM1):c.1260+3G>A rs222410
NM_000252.2(MTM1):c.1291G>A (p.Asp431Asn) rs886044782
NM_000252.2(MTM1):c.1367T>C (p.Phe456Ser) rs587783783
NM_000252.2(MTM1):c.1406A>G (p.His469Arg) rs587783789
NM_000252.2(MTM1):c.422C>T (p.Ala141Val) rs140642341
NM_000252.2(MTM1):c.575A>G (p.Tyr192Cys) rs587783838
NM_000252.2(MTM1):c.676C>A (p.Pro226Thr) rs587783848
NM_000252.2(MTM1):c.688T>C (p.Trp230Arg) rs398123274
NM_000253.3(MTTP):c.383T>C (p.Ile128Thr) rs3816873
NM_000253.3(MTTP):c.453T>C (p.Gly151=) rs991811
NM_000253.3(MTTP):c.522T>C (p.Cys174=) rs982424
NM_000253.3(MTTP):c.730C>G (p.Gln244Glu) rs17599091
NM_000253.3(MTTP):c.891C>G (p.His297Gln) rs2306985
NM_000257.3(MYH7):c.2334C>T (p.Asp778=) rs2069544
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831
NM_000257.4(MYH7):c.3337-3dup rs45504498
NM_000257.4(MYH7):c.3474C>T (p.Ser1158=) rs587780395
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823
NM_000257.4(MYH7):c.4566T>C (p.Thr1522=) rs2754155
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=) rs7140196
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124
NM_000262.2(NAGA):c.973G>A (p.Glu325Lys) rs121434529
NM_000264.4(PTCH1):c.-15_-4delGGCGGCGGCGGC rs71366293
NM_000264.4(PTCH1):c.3387C>T (p.Gly1129=) rs28446339
NM_000267.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_000267.3(NF1):c.7468G>C (p.Val2490Leu) rs2230850
NM_000267.3(NF1):c.8042A>T (p.Tyr2681Phe) rs201824349
NM_000271.4(NPC1):c.1211G>A (p.Arg404Gln) rs139751448
NM_000271.4(NPC1):c.1926G>C (p.Met642Ile) rs1788799
NM_000271.4(NPC1):c.2572A>G (p.Ile858Val) rs1805082
NM_000271.4(NPC1):c.2621A>T (p.Asp874Val) rs372030650
NM_000271.4(NPC1):c.2793C>T (p.Asn931=) rs1140458
NM_000271.4(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259
NM_000271.4(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.4(NPC1):c.387T>C (p.Tyr129=) rs12970899
NM_000271.4(NPC1):c.644A>G (p.His215Arg) rs1805081
NM_000272.3(NPHP1):c.115C>A (p.Pro39Thr) rs33958626
NM_000272.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114
NM_000272.3(NPHP1):c.654G>A (p.Glu218=) rs11675767
NM_000272.3(NPHP1):c.810C>T (p.Cys270=) rs73954628
NM_000273.2(GPR143):c.371A>G (p.Gln124Arg) rs62635032
NM_000275.2(OCA2):c.1109T>C (p.Ile370Thr) rs34731820
NM_000275.2(OCA2):c.1183A>C (p.Met395Leu) rs757286784
NM_000275.2(OCA2):c.1320G>C (p.Leu440Phe) rs1800408
NM_000275.2(OCA2):c.1327G>A (p.Val443Ile) rs121918166
NM_000275.2(OCA2):c.1503+5G>A rs368124046
NM_000275.2(OCA2):c.2207C>T (p.Ser736Leu) rs780296175
NM_000275.2(OCA2):c.2425T>A (p.Phe809Ile) rs765779905
NM_000275.2(OCA2):c.79G>A (p.Gly27Arg) rs61738394
NM_000275.2(OCA2):c.819_822delCTGGinsGGTC (p.Asn273_Trp274delinsLysVal) rs797044784
NM_000276.3(OCRL):c.41C>T (p.Thr14Ile) rs61752970
NM_000276.3(OCRL):c.439+3A>G rs61752971
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679
NM_000284.3(PDHA1):c.1173_*5delAGGGGA rs762505127
NM_000284.3(PDHA1):c.795A>G (p.Ala265=) rs1126565
NM_000287.3(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000288.3(PEX7):c.875T>A (p.Leu292Ter) rs1805137
NM_000288.3(PEX7):c.903+1G>C rs148591292
NM_000303.2(PMM2):c.324G>A (p.Ala108=) rs62031146
NM_000303.2(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000304.3(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000310.3(PPT1):c.363-4G>A rs117284255
NM_000310.3(PPT1):c.401T>C (p.Ile134Thr) rs1800205
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000310.3(PPT1):c.627+4A>G rs572153728
NM_000310.3(PPT1):c.837G>C (p.Gln279His) rs72937434
NM_000311.4(PRNP):c.385A>G (p.Met129Val) rs1799990
NM_000314.4(PTEN):c.202T>C (p.Tyr68His) rs398123317
NM_000314.6(PTEN):c.-1026C>A rs34149102
NM_000314.6(PTEN):c.-1027C>A rs587781128
NM_000314.6(PTEN):c.-734G>A rs886047384
NM_000314.6(PTEN):c.210-7_210-3del5 rs587780544
NM_000314.6(PTEN):c.579G>A (p.Leu193=) rs568851024
NM_000317.2(PTS):c.347A>G (p.Asp116Gly) rs104894279
NM_000318.2(PEX2):c.748T>C (p.Trp250Arg) rs142645936
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=) rs16947296
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=) rs76894284
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102
NM_000334.4(SCN4A):c.2919C>T (p.Pro973=) rs73992419
NM_000334.4(SCN4A):c.2989+5G>A rs115695396
NM_000334.4(SCN4A):c.3441+7G>A rs142270113
NM_000334.4(SCN4A):c.366C>T (p.Arg122=) rs41280108
NM_000334.4(SCN4A):c.3759C>T (p.Ala1253=) rs72851170
NM_000334.4(SCN4A):c.4288+10G>T rs114059193
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192
NM_000334.4(SCN4A):c.4905C>T (p.Ile1635=) rs59081944
NM_000334.4(SCN4A):c.5274C>T (p.His1758=) rs113418988
NM_000337.5(SGCD):c.290G>A (p.Arg97Gln) rs45559835
NM_000337.5(SGCD):c.294+8T>C rs11748588
NM_000340.1(SLC2A2):c.1437C>T (p.Phe479=) rs5398
NM_000340.1(SLC2A2):c.329C>T (p.Thr110Ile) rs5400
NM_000340.1(SLC2A2):c.594G>A (p.Thr198=) rs5404
NM_000340.1(SLC2A2):c.661C>T (p.Leu221=) rs5405
NM_000348.3(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964
NM_000348.3(SRD5A2):c.682G>A (p.Ala228Thr) rs121434249
NM_000352.4(ABCC8):c.-72G>A rs541244107
NM_000352.4(ABCC8):c.-8G>T rs200091822
NM_000352.4(ABCC8):c.1158C>T (p.Asn386=) rs60824529
NM_000352.4(ABCC8):c.1332+4del rs587783164
NM_000352.4(ABCC8):c.1384A>G (p.Ile462Val) rs117874766
NM_000352.4(ABCC8):c.1562G>A (p.Arg521Gln) rs368114790
NM_000352.4(ABCC8):c.1686C>T (p.His562=) rs1799857
NM_000352.4(ABCC8):c.1707C>T (p.Ala569=) rs147623093
NM_000352.4(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708
NM_000352.4(ABCC8):c.1879del (p.His627Metfs) rs764613146
NM_000352.4(ABCC8):c.1926C>G (p.Pro642=) rs75376282
NM_000352.4(ABCC8):c.1947G>A (p.Lys649=) rs1799858
NM_000352.4(ABCC8):c.207T>C (p.Pro69=) rs1048099
NM_000352.4(ABCC8):c.2117-3C>T rs1799854
NM_000352.4(ABCC8):c.2143G>A (p.Val715Met) rs1554924142
NM_000352.4(ABCC8):c.2277C>T (p.Thr759=) rs1801261
NM_000352.4(ABCC8):c.2485C>T (p.Leu829=) rs1805036
NM_000352.4(ABCC8):c.2538C>T (p.His846=) rs73423037
NM_000352.4(ABCC8):c.2820+17A>G rs2106865
NM_000352.4(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678
NM_000352.4(ABCC8):c.291-3C>T rs764107333
NM_000352.4(ABCC8):c.2992C>T (p.Arg998Ter) rs769518471
NM_000352.4(ABCC8):c.330C>T (p.Ala110=) rs8192695
NM_000352.4(ABCC8):c.331G>A (p.Gly111Arg) rs761749884
NM_000352.4(ABCC8):c.3329+6C>T rs113873225
NM_000352.4(ABCC8):c.3545G>A (p.Arg1182Gln) rs193922400
NM_000352.4(ABCC8):c.3819G>A (p.Arg1273=) rs1799859
NM_000352.4(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110
NM_000352.4(ABCC8):c.4119+1G>A rs797045211
NM_000352.4(ABCC8):c.4120-19C>T rs1800853
NM_000352.4(ABCC8):c.423G>A (p.Val141=) rs116132921
NM_000352.4(ABCC8):c.4376T>G (p.Leu1459Arg) rs971604271
NM_000352.4(ABCC8):c.4431C>T (p.Gly1477=) rs145673861
NM_000352.4(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715
NM_000352.4(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690
NM_000352.4(ABCC8):c.4728C>T (p.Phe1576=) rs73419228
NM_000352.4(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000352.4(ABCC8):c.579+14C>T rs2301703
NM_000368.4(TSC1):c.1001C>T (p.Ser334Leu) rs118203481
NM_000368.4(TSC1):c.1335A>G (p.Glu445=) rs7862221
NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000368.4(TSC1):c.2646C>T (p.Ala882=) rs118203720
NM_000368.4(TSC1):c.2829C>T (p.Ala943=) rs4962081
NM_000368.4(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742
NM_000368.4(TSC1):c.3324C>T (p.Gly1108=) rs35593170
NM_000368.4(TSC1):c.3387C>T (p.Ala1129=) rs200200869
NM_000368.4(TSC1):c.965T>C (p.Met322Thr) rs1073123
NM_000369.2(TSHR):c.1657G>A (p.Ala553Thr) rs121908872
NM_000369.2(TSHR):c.202C>T (p.Pro68Ser) rs142063461
NM_000372.4(TYR):c.1037-7T>A rs61754381
NM_000372.4(TYR):c.1064C>T (p.Ala355Val) rs151206295
NM_000372.4(TYR):c.1199G>T (p.Trp400Leu) rs62645916
NM_000372.4(TYR):c.1204C>T (p.Arg402Ter) rs62645917
NM_000372.4(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.4(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.4(TYR):c.1234C>G (p.Pro412Ala) rs797046081
NM_000372.4(TYR):c.140G>A (p.Gly47Asp) rs61753180
NM_000372.4(TYR):c.230G>A (p.Arg77Gln) rs61753185
NM_000372.4(TYR):c.242C>T (p.Pro81Leu) rs28940876
NM_000372.4(TYR):c.650G>A (p.Arg217Gln) rs61754365
NM_000372.4(TYR):c.823G>T (p.Val275Phe) rs104894314
NM_000372.4(TYR):c.832C>T (p.Arg278Ter) rs62645904
NM_000372.4(TYR):c.896G>A (p.Arg299His) rs61754375
NM_000377.2(WAS):c.1378C>T (p.Pro460Ser) rs143885622
NM_000377.2(WAS):c.538C>A (p.His180Asn) rs145040665
NM_000377.2(WAS):c.995T>C (p.Val332Ala) rs2737799
NM_000381.3(MID1):c.1230C>T (p.Ser410=) rs16986145
NM_000381.3(MID1):c.1489C>T (p.Leu497=) rs138629923
NM_000381.3(MID1):c.2000C>T (p.Pro667Leu) rs147106995
NM_000381.3(MID1):c.588C>G (p.Ala196=) rs41303167
NM_000381.3(MID1):c.661-8_661-7del rs375668839
NM_000383.3(AIRE):c.1095+6G>A rs1800525
NM_000383.3(AIRE):c.1197T>C (p.Ala399=) rs1800521
NM_000383.3(AIRE):c.1296G>A (p.Ala432Ala=) rs144359012
NM_000383.3(AIRE):c.1411C>T (p.Arg471Cys) rs74203920
NM_000383.3(AIRE):c.1578T>C (p.Asp526=) rs1133779
NM_000383.3(AIRE):c.588C>T (p.Ser196=) rs878081
NM_000383.3(AIRE):c.595G>A (p.Val199Ile) rs74162061
NM_000383.3(AIRE):c.681C>T (p.Gly227=) rs1055311
NM_000383.3(AIRE):c.834C>G (p.Ser278Arg) rs1800520
NM_000383.3(AIRE):c.99T>C (p.Ala33=) rs3746964
NM_000384.2(APOB):c.10580G>A (p.Arg3527Gln) rs5742904
NM_000384.2(APOB):c.10913G>A (p.Arg3638Gln) rs1801701
NM_000384.2(APOB):c.12541G>A (p.Glu4181Lys) rs1042031
NM_000384.2(APOB):c.13013G>A (p.Ser4338Asn) rs1042034
NM_000384.2(APOB):c.13441G>A (p.Ala4481Thr) rs1801695
NM_000384.2(APOB):c.1853C>T (p.Ala618Val) rs679899
NM_000384.2(APOB):c.2188G>A (p.Val730Ile) rs12691202
NM_000384.2(APOB):c.293C>T (p.Thr98Ile) rs1367117
NM_000384.2(APOB):c.5768A>G (p.His1923Arg) rs533617
NM_000384.2(APOB):c.6936C>T (p.Asp2312=) rs1041968
NM_000384.2(APOB):c.7285T>A (p.Ser2429Thr) rs72653092
NM_000384.2(APOB):c.7545C>T (p.Thr2515=) rs693
NM_000384.2(APOB):c.7696G>A (p.Glu2566Lys) rs1801696
NM_000384.2(APOB):c.8216C>T (p.Pro2739Leu) rs676210
NM_000388.3(CASR):c.3091G>A (p.Gly1031Ser) rs142704083
NM_000391.3(TPP1):c.1044C>T (p.Ala348=) rs35706972
NM_000391.3(TPP1):c.1266+5G>A rs1800753
NM_000391.3(TPP1):c.1494C>T (p.Pro498=) rs117942457
NM_000391.3(TPP1):c.14C>A (p.Ala5Asp) rs138976576
NM_000391.3(TPP1):c.1542A>T (p.Gly514=) rs1128396
NM_000391.3(TPP1):c.293C>T (p.Thr98Met) rs140726254
NM_000391.3(TPP1):c.299A>G (p.Gln100Arg) rs1800746
NM_000391.3(TPP1):c.441A>G (p.Glu147=) rs2555170
NM_000391.3(TPP1):c.509-1G>C rs56144125
NM_000391.3(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000391.3(TPP1):c.840G>C (p.Leu280=) rs140349036
NM_000404.3(GLB1):c.29C>T (p.Pro10Leu) rs7637099
NM_000404.3(GLB1):c.325C>T (p.Arg109Trp) rs35289681
NM_000404.3(GLB1):c.34T>C (p.Leu12=) rs7614776
NM_000410.3(HFE):c.187C>G (p.His63Asp) rs1799945
NM_000410.3(HFE):c.340+4T>C rs2071303
NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) rs1800562
NM_000411.6(HLCS):c.834C>T (p.Ser278=) rs1065758
NM_000425.4(L1CAM):c.2211G>A (p.Pro737=) rs146782397
NM_000425.4(L1CAM):c.2302G>A (p.Val768Ile) rs36021462
NM_000425.4(L1CAM):c.2537G>T (p.Arg846Leu) rs149737236
NM_000425.4(L1CAM):c.3015C>T (p.Ile1005=) rs202082978
NM_000425.4(L1CAM):c.3412C>G (p.Leu1138Val) rs781860875
NM_000425.4(L1CAM):c.3642C>T (p.Ser1214=) rs782341083
NM_000425.4(L1CAM):c.3672G>A (p.Ser1224=) rs146526273
NM_000425.4(L1CAM):c.36C>A (p.Leu12=) rs140678848
NM_000425.4(L1CAM):c.400+9C>T rs201057718
NM_000426.3(LAMA2):c.1308T>G (p.Gly436=) rs41285286
NM_000426.3(LAMA2):c.1491T>C (p.Cys497=) rs2306220
NM_000426.3(LAMA2):c.1533T>C (p.Asn511=) rs9492266
NM_000426.3(LAMA2):c.156C>T (p.Ile52=) rs1140366
NM_000426.3(LAMA2):c.1621A>G (p.Ser541Gly) rs141363186
NM_000426.3(LAMA2):c.1798G>A (p.Gly600Arg) rs36044314
NM_000426.3(LAMA2):c.1930C>G (p.His644Asp) rs35879899
NM_000426.3(LAMA2):c.2115T>G (p.Leu705=) rs149753273
NM_000426.3(LAMA2):c.2217G>T (p.Trp739Cys) rs192317605
NM_000426.3(LAMA2):c.2462C>T (p.Thr821Met) rs117422805
NM_000426.3(LAMA2):c.255C>T (p.Ile85=) rs142083777
NM_000426.3(LAMA2):c.2756G>T (p.Arg919Leu) rs35277491
NM_000426.3(LAMA2):c.3279C>T (p.Cys1093=) rs371376404
NM_000426.3(LAMA2):c.3296A>G (p.Asn1099Ser) rs35065563
NM_000426.3(LAMA2):c.3412G>A (p.Val1138Met) rs2306942
NM_000426.3(LAMA2):c.3613A>G (p.Thr1205Ala) rs35889149
NM_000426.3(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184
NM_000426.3(LAMA2):c.4750G>A (p.Gly1584Ser) rs117781224
NM_000426.3(LAMA2):c.4935C>A (p.Thr1645=) rs35579821
NM_000426.3(LAMA2):c.4956C>G (p.Thr1652=) rs17057184
NM_000426.3(LAMA2):c.5530C>A (p.Arg1844Ser) rs56173620
NM_000426.3(LAMA2):c.5633C>T (p.Ser1878Phe) rs139586720
NM_000426.3(LAMA2):c.5688C>T (p.His1896=) rs573779258
NM_000426.3(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053
NM_000426.3(LAMA2):c.6167C>A (p.Thr2056Lys) rs73775407
NM_000426.3(LAMA2):c.6234A>G (p.Lys2078=) rs56920166
NM_000426.3(LAMA2):c.6237G>A (p.Thr2079=) rs2297738
NM_000426.3(LAMA2):c.6429+8C>A rs199773264
NM_000426.3(LAMA2):c.6539A>T (p.Asp2180Val) rs567385461
NM_000426.3(LAMA2):c.7300+10T>A rs200469923
NM_000426.3(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843
NM_000426.3(LAMA2):c.7906A>G (p.Thr2636Ala) rs2244008
NM_000426.3(LAMA2):c.8028T>C (p.Asn2676=) rs35313209
NM_000426.3(LAMA2):c.8124T>A (p.Gly2708=) rs34997144
NM_000426.3(LAMA2):c.8223G>A (p.Thr2741=) rs150596964
NM_000426.3(LAMA2):c.8528A>G (p.Asn2843Ser) rs73599293
NM_000426.3(LAMA2):c.8548-10T>C rs113644365
NM_000426.3(LAMA2):c.8691A>G (p.Arg2897=) rs2228599
NM_000426.3(LAMA2):c.8755C>T (p.Pro2919Ser) rs143026295
NM_000426.3(LAMA2):c.9123C>T (p.Val3041=) rs61749497
NM_000430.3(PAFAH1B1):c.1002+1G>A rs113994203
NM_000430.3(PAFAH1B1):c.1050delG (p.Lys351Serfs) rs113994200
NM_000430.3(PAFAH1B1):c.1050dupG (p.Lys351Glufs) rs113994200
NM_000430.3(PAFAH1B1):c.162delA (p.Lys54Asnfs) rs113994198
NM_000430.3(PAFAH1B1):c.162dupA (p.Trp55Metfs) rs113994198
NM_000430.3(PAFAH1B1):c.387T>C (p.Asp129=) rs140936904
NM_000430.3(PAFAH1B1):c.474C>T (p.Phe158=) rs116237011
NM_000430.3(PAFAH1B1):c.484G>A (p.Gly162Ser) rs121434487
NM_000430.3(PAFAH1B1):c.568+27C>T rs3213696
NM_000430.3(PAFAH1B1):c.569-10T>C rs113994202
NM_000430.3(PAFAH1B1):c.672-10A>C rs77153143
NM_000430.3(PAFAH1B1):c.693A>T (p.Thr231=) rs2228614
NM_000430.3(PAFAH1B1):c.780A>G (p.Val260=) rs150380620
NM_000431.3(MVK):c.155G>A (p.Ser52Asn) rs7957619
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.924C>T (p.Leu308=) rs72648042
NM_000445.4(PLEC):c.10006C>T (p.Arg3336Cys) rs77303974
NM_000445.4(PLEC):c.10026C>T (p.Ser3342=) rs28657061
NM_000445.4(PLEC):c.10042G>A (p.Gly3348Arg) rs34132016
NM_000445.4(PLEC):c.10047C>T (p.Val3349=) rs35613096
NM_000445.4(PLEC):c.10095C>T (p.Val3365=) rs35775257
NM_000445.4(PLEC):c.10127C>T (p.Thr3376Met) rs34725742
NM_000445.4(PLEC):c.10139G>C (p.Gly3380Ala) rs35261863
NM_000445.4(PLEC):c.10693T>C (p.Leu3565=) rs6992333
NM_000445.4(PLEC):c.10746G>A (p.Thr3582=) rs6984820
NM_000445.4(PLEC):c.11001C>T (p.Tyr3667=) rs28455570
NM_000445.4(PLEC):c.11067C>T (p.Thr3689=) rs35134741
NM_000445.4(PLEC):c.11170C>T (p.Leu3724=) rs17062686
NM_000445.4(PLEC):c.11208T>C (p.Ala3736=) rs7819099
NM_000445.4(PLEC):c.11680G>C (p.Asp3894His) rs62642465
NM_000445.4(PLEC):c.11682C>T (p.Asp3894=) rs75833626
NM_000445.4(PLEC):c.11709A>G (p.Pro3903=) rs7822511
NM_000445.4(PLEC):c.1176T>C (p.Asp392=) rs11783799
NM_000445.4(PLEC):c.11967A>G (p.Thr3989=) rs6558406
NM_000445.4(PLEC):c.11994G>A (p.Ala3998=) rs73715559
NM_000445.4(PLEC):c.1239C>G (p.Ser413Arg) rs201667254
NM_000445.4(PLEC):c.12642C>T (p.Asp4214=) rs11998271
NM_000445.4(PLEC):c.12696C>T (p.Ile4232=) rs202116866
NM_000445.4(PLEC):c.12894A>G (p.Ser4298=) rs6558405
NM_000445.4(PLEC):c.13191C>T (p.Ala4397=) rs187810163
NM_000445.4(PLEC):c.13286C>T (p.Thr4429Met) rs113513807
NM_000445.4(PLEC):c.133G>A (p.Gly45Ser) rs201820569
NM_000445.4(PLEC):c.13542T>C (p.Ala4514=) rs7014582
NM_000445.4(PLEC):c.1455C>T (p.Thr485=) rs115081018
NM_000445.4(PLEC):c.1592C>T (p.Ala531Val) rs11136336
NM_000445.4(PLEC):c.1731C>T (p.Ser577=) rs541271992
NM_000445.4(PLEC):c.1787G>A (p.Arg596Gln) rs3135103
NM_000445.4(PLEC):c.1833C>T (p.Pro611=) rs185978075
NM_000445.4(PLEC):c.2259+9C>G rs114256617
NM_000445.4(PLEC):c.2298G>A (p.Gln766=) rs116612406
NM_000445.4(PLEC):c.2538+6C>T rs11780911
NM_000445.4(PLEC):c.2629G>A (p.Ala877Thr) rs58836306
NM_000445.4(PLEC):c.2694-7C>A rs11990994
NM_000445.4(PLEC):c.2739G>A (p.Leu913=) rs78012434
NM_000445.4(PLEC):c.2913C>T (p.Gly971=) rs145050858
NM_000445.4(PLEC):c.3273C>T (p.Arg1091=) rs73377210
NM_000445.4(PLEC):c.3459G>A (p.Glu1153=) rs11991764
NM_000445.4(PLEC):c.3631T>C (p.Leu1211=) rs3135109
NM_000445.4(PLEC):c.3798C>T (p.Ala1266=) rs112173070
NM_000445.4(PLEC):c.3827G>A (p.Arg1276Gln) rs11136334
NM_000445.4(PLEC):c.3838-6A>G rs11136333
NM_000445.4(PLEC):c.3838-9A>G rs57461687
NM_000445.4(PLEC):c.3966G>A (p.Pro1322=) rs148465219
NM_000445.4(PLEC):c.4046A>G (p.His1349Arg) rs55895668
NM_000445.4(PLEC):c.4126-4A>G rs7002152
NM_000445.4(PLEC):c.4304C>T (p.Ala1435Val) rs111851716
NM_000445.4(PLEC):c.4494T>C (p.Ala1498=) rs35916068
NM_000445.4(PLEC):c.4536T>G (p.Ala1512=) rs56117011
NM_000445.4(PLEC):c.4557G>A (p.Ala1519=) rs55646585
NM_000445.4(PLEC):c.459T>C (p.Ala153=) rs6993938
NM_000445.4(PLEC):c.4638G>A (p.Ser1546=) rs79705634
NM_000445.4(PLEC):c.4716G>A (p.Ala1572=) rs76426116
NM_000445.4(PLEC):c.4725G>A (p.Ala1575=) rs62642470
NM_000445.4(PLEC):c.4761G>A (p.Ala1587=) rs55836855
NM_000445.4(PLEC):c.5310G>A (p.Ala1770=) rs140406501
NM_000445.4(PLEC):c.5558G>A (p.Arg1853Gln) rs147838690
NM_000445.4(PLEC):c.5664G>A (p.Ala1888=) rs75586449
NM_000445.4(PLEC):c.5842C>T (p.Arg1948Trp) rs201278290
NM_000445.4(PLEC):c.5946G>A (p.Ala1982=) rs62642469
NM_000445.4(PLEC):c.5988T>C (p.Ala1996=) rs2857829
NM_000445.4(PLEC):c.6009G>A (p.Ala2003=) rs1140522
NM_000445.4(PLEC):c.6243C>T (p.His2081=) rs563719398
NM_000445.4(PLEC):c.6251C>T (p.Ala2084Val) rs7002002
NM_000445.4(PLEC):c.6395C>T (p.Ala2132Val) rs74772299
NM_000445.4(PLEC):c.6522G>A (p.Ala2174=) rs7016416
NM_000445.4(PLEC):c.6658C>T (p.Leu2220=) rs28610521
NM_000445.4(PLEC):c.6822C>T (p.Ile2274=) rs62641755
NM_000445.4(PLEC):c.7191C>T (p.Ala2397=) rs80143277
NM_000445.4(PLEC):c.7341G>A (p.Thr2447=) rs34490562
NM_000445.4(PLEC):c.7347C>T (p.Leu2449=) rs117306121
NM_000445.4(PLEC):c.7348G>A (p.Ala2450Thr) rs193257576
NM_000445.4(PLEC):c.7662A>C (p.Ala2554=) rs11778026
NM_000445.4(PLEC):c.7807C>T (p.Leu2603=) rs11988293
NM_000445.4(PLEC):c.7959G>A (p.Leu2653=) rs34803322
NM_000445.4(PLEC):c.799+10C>T rs12545876
NM_000445.4(PLEC):c.8041T>C (p.Ser2681Pro) rs7833924
NM_000445.4(PLEC):c.8093G>A (p.Arg2698Gln) rs28526657
NM_000445.4(PLEC):c.8106C>T (p.Gly2702=) rs35139934
NM_000445.4(PLEC):c.8131C>T (p.Arg2711Trp) rs35723243
NM_000445.4(PLEC):c.8334C>T (p.Asn2778=) rs11777402
NM_000445.4(PLEC):c.8400C>T (p.Ala2800=) rs34534853
NM_000445.4(PLEC):c.8576G>A (p.Arg2859His) rs6558407
NM_000445.4(PLEC):c.8901C>G (p.Asp2967Glu) rs58308209
NM_000445.4(PLEC):c.9154G>A (p.Val3052Ile) rs35027700
NM_000445.4(PLEC):c.9182C>T (p.Ala3061Val) rs35858667
NM_000445.4(PLEC):c.9504C>T (p.Gly3168=) rs61529674
NM_000445.4(PLEC):c.9516C>T (p.Asp3172=) rs60091617
NM_000445.4(PLEC):c.9858T>A (p.Ser3286=) rs34644439
NM_000454.4(SOD1):c.272A>C (p.Asp91Ala) rs80265967
NM_000456.2(SUOX):c.1281G>C (p.Ser427=) rs773115
NM_000456.2(SUOX):c.1358G>A (p.Gly453Asp) rs76537761
NM_000457.4(HNF4A):c.116-5C>T rs745975
NM_000457.4(HNF4A):c.1309C>T (p.Pro437Ser) rs150776703
NM_000457.4(HNF4A):c.201C>T (p.Ala67=) rs736823
NM_000457.4(HNF4A):c.416C>T (p.Thr139Ile) rs1800961
NM_000457.4(HNF4A):c.505G>A (p.Val169Ile) rs142204928
NM_000457.4(HNF4A):c.735A>G (p.Leu245=) rs139591750
NM_000457.4(HNF4A):c.810C>T (p.Asp270=) rs6031592
NM_000457.4(HNF4A):c.991C>T (p.Arg331Cys) rs193922479
NM_000463.2(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978
NM_000463.2(UGT1A1):c.141C>T (p.Ile47=) rs34526305
NM_000463.2(UGT1A1):c.1456T>G (p.Tyr486Asp) rs34993780
NM_000463.2(UGT1A1):c.540A>G (p.Glu180=) rs148755655
NM_000463.2(UGT1A1):c.625C>T (p.Arg209Trp) rs72551343
NM_000463.2(UGT1A1):c.674T>G (p.Val225Gly) rs35003977
NM_000463.2(UGT1A1):c.686C>A (p.Pro229Gln) rs35350960
NM_000463.2(UGT1A1):c.996+15T>C rs4148327
NM_000465.3(BARD1):c.1652C>G (p.Ser551Ter) rs587781707
NM_000466.2(PEX1):c.2088A>G (p.Ile696Met) rs35996821
NM_000466.2(PEX1):c.2331C>A (p.Gly777=) rs10278857
NM_000479.4(AMH):c.974A>G (p.Gln325Arg) rs140765565
NM_000487.5(ARSA):c.1010A>T (p.Asp337Val) rs74315475
NM_000487.5(ARSA):c.1283C>T (p.Pro428Leu) rs28940893
NM_000489.3(ATRX):c.2785C>G (p.Glu929=) rs3088074
NM_000489.3(ATRX):c.4035G>A (p.Leu1345=) rs111725949
NM_000489.3(ATRX):c.4377_4379delGGA (p.Glu1464del) rs398123423
NM_000489.4(ATRX):c.1633C>G (p.Gln545Glu) rs35738915
NM_000489.4(ATRX):c.1868A>G (p.Lys623Arg) rs145678415
NM_000489.4(ATRX):c.2000C>T (p.Pro667Leu) rs61752457
NM_000489.4(ATRX):c.2169G>C (p.Glu723Asp) rs61752456
NM_000489.4(ATRX):c.228G>A (p.Ser76=) rs5959371
NM_000489.4(ATRX):c.4120+4A>C rs200420513
NM_000489.4(ATRX):c.4350_4352delAGA (p.Glu1464del) rs587780288
NM_000489.4(ATRX):c.4635C>A (p.Thr1545=) rs148975763
NM_000489.4(ATRX):c.4659T>C (p.His1553=) rs25641
NM_000489.4(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000489.4(ATRX):c.5787-8_5787-5delGTTT rs782072699
NM_000489.4(ATRX):c.6405C>T (p.Phe2135=) rs148659669
NM_000489.4(ATRX):c.846C>T (p.Ser282=) rs148015780
NM_000489.5(ATRX):c.1438A>G (p.Thr480Ala) rs587780284
NM_000489.5(ATRX):c.2806G>C (p.Val936Leu) rs149232501
NM_000492.3(CFTR):c.1408G>A (p.Val470Met) rs213950
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.3(CFTR):c.2562T>G (p.Thr854=) rs1042077
NM_000492.3(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792
NM_000492.3(CFTR):c.3870A>G (p.Pro1290=) rs1800130
NM_000492.3(CFTR):c.4389G>A (p.Gln1463=) rs1800136
NM_000497.3(CYP11B1):c.1042G>A (p.Ala348Thr) rs6407
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
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.9C>T (p.Ser3=) rs1800428
NM_000521.3(HEXB):c.1051T>C (p.Leu351=) rs114661695
NM_000521.3(HEXB):c.1597C>T (p.Arg533Cys) rs764552042
NM_000521.3(HEXB):c.214C>T (p.Leu72Phe) rs147155126
NM_000521.3(HEXB):c.619A>G (p.Ile207Val) rs10805890
NM_000525.3(KCNJ11):c.1009G>A (p.Val337Ile) rs5215
NM_000525.3(KCNJ11):c.1089A>G (p.Ser363=) rs5214
NM_000525.3(KCNJ11):c.108G>A (p.Val36=) rs112070496
NM_000525.3(KCNJ11):c.1095C>T (p.Arg365=) rs143276279
NM_000525.3(KCNJ11):c.1143G>A (p.Lys381=) rs8175351
NM_000525.3(KCNJ11):c.1154C>G (p.Ser385Cys) rs41282930
NM_000525.3(KCNJ11):c.175G>A (p.Val59Met) rs80356616
NM_000525.3(KCNJ11):c.570C>T (p.Ala190=) rs5218
NM_000525.3(KCNJ11):c.584G>A (p.Arg195His) rs5217
NM_000525.3(KCNJ11):c.601C>T (p.Arg201Cys) rs80356625
NM_000525.3(KCNJ11):c.602G>A (p.Arg201His) rs80356624
NM_000525.3(KCNJ11):c.678C>T (p.Pro226=) rs74162102
NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) rs5219
NM_000525.3(KCNJ11):c.79C>T (p.Arg27Cys) rs752507753
NM_000525.3(KCNJ11):c.801C>G (p.Leu267=) rs5216
NM_000525.3(KCNJ11):c.808C>G (p.Leu270Val) rs1800467
NM_000525.3(KCNJ11):c.843C>T (p.Leu281=) rs116392938
NM_000525.3(KCNJ11):c.844G>A (p.Glu282Lys) rs267607196
NM_000525.3(KCNJ11):c.881C>T (p.Thr294Met) rs780957825
NM_000525.3(KCNJ11):c.964G>A (p.Glu322Lys) rs193929355
NM_000525.3(KCNJ11):c.989A>G (p.Tyr330Cys) rs193929356
NM_000528.3(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330
NM_000528.3(MAN2B1):c.1238A>G (p.Asn413Ser) rs35836657
NM_000528.3(MAN2B1):c.832C>G (p.Leu278Val) rs1054486
NM_000528.3(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
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.809A>G (p.Gln270Arg) rs1800328
NM_000533.4(PLP1):c.168A>G (p.Gln56=) rs2233697
NM_000533.4(PLP1):c.609T>C (p.Asp203=) rs1126707
NM_000535.6(PMS2):c.1266G>A (p.Glu422=) rs138049175
NM_000535.6(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000535.6(PMS2):c.2187C>G (p.Leu729=) rs373630535
NM_000535.6(PMS2):c.23+10G>C rs192027828
NM_000535.6(PMS2):c.353+9A>C rs139990791
NM_000535.6(PMS2):c.383C>T (p.Ser128Leu) rs116373169
NM_000535.6(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343
NM_000540.2(RYR1):c.10048C>A (p.Arg3350=) rs200355885
NM_000540.2(RYR1):c.10097G>A (p.Arg3366His) rs137932199
NM_000540.2(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058
NM_000540.2(RYR1):c.10259+7G>A rs143752962
NM_000540.2(RYR1):c.10564C>A (p.Leu3522Met) rs200144997
NM_000540.2(RYR1):c.10616G>A (p.Arg3539His) rs143987857
NM_000540.2(RYR1):c.10687-7C>T rs2960354
NM_000540.2(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273
NM_000540.2(RYR1):c.11141+7A>G rs78350770
NM_000540.2(RYR1):c.1123-11C>T rs3745845
NM_000540.2(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839
NM_000540.2(RYR1):c.11547G>A (p.Gln3849=) rs142518033
NM_000540.2(RYR1):c.11625G>A (p.Ala3875=) rs61729397
NM_000540.2(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339
NM_000540.2(RYR1):c.11941C>T (p.His3981Tyr) rs148772854
NM_000540.2(RYR1):c.12283-7C>T rs143861818
NM_000540.2(RYR1):c.12588C>T (p.Ile4196=) rs61739895
NM_000540.2(RYR1):c.12741C>T (p.Ala4247=) rs80039127
NM_000540.2(RYR1):c.12861_12869dupCACGGCGGC (p.Ala4290_Ala4291insThrAlaAla) rs398123469
NM_000540.2(RYR1):c.12879G>C (p.Ala4293=) rs193922854
NM_000540.2(RYR1):c.12990C>G (p.Thr4330=) rs184450380
NM_000540.2(RYR1):c.12990C>T (p.Thr4330=) rs184450380
NM_000540.2(RYR1):c.13317C>T (p.Ala4439=) rs113579185
NM_000540.2(RYR1):c.13350G>A (p.Gly4450=) rs748743312
NM_000540.2(RYR1):c.13464G>A (p.Pro4488=) rs10405232
NM_000540.2(RYR1):c.13503G>A (p.Pro4501=) rs2960319
NM_000540.2(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130
NM_000540.2(RYR1):c.14505G>A (p.Gly4835=) rs118126378
NM_000540.2(RYR1):c.1453A>G (p.Met485Val) rs147723844
NM_000540.2(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.2(RYR1):c.14589C>T (p.Phe4863=) rs146072491
NM_000540.2(RYR1):c.14600G>A (p.Ser4867Asn) rs587784373
NM_000540.2(RYR1):c.14678G>A (p.Arg4893Gln) rs118192151
NM_000540.2(RYR1):c.14770_14772delTTC (p.Phe4924del) rs1064794572
NM_000540.2(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158
NM_000540.2(RYR1):c.1577-6C>G rs61586345
NM_000540.2(RYR1):c.2091C>T (p.Ala697=) rs138704724
NM_000540.2(RYR1):c.2122G>A (p.Asp708Asn) rs138874610
NM_000540.2(RYR1):c.216G>T (p.Leu72=) rs113389877
NM_000540.2(RYR1):c.2199G>C (p.Gly733=) rs749285937
NM_000540.2(RYR1):c.2366G>A (p.Arg789Gln) rs200069592
NM_000540.2(RYR1):c.2622G>A (p.Ala874=) rs149381996
NM_000540.2(RYR1):c.2654G>A (p.Arg885His) rs370634440
NM_000540.2(RYR1):c.2919C>T (p.His973=) rs139363830
NM_000540.2(RYR1):c.325C>T (p.Arg109Trp) rs118192173
NM_000540.2(RYR1):c.3801dupC (p.Cys1268Leufs) rs587784374
NM_000540.2(RYR1):c.3876C>A (p.Leu1292=) rs143750836
NM_000540.2(RYR1):c.4055C>G (p.Ala1352Gly) rs112105381
NM_000540.2(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266
NM_000540.2(RYR1):c.4711A>G (p.Ile1571Val) rs146429605
NM_000540.2(RYR1):c.4894C>T (p.Pro1632Ser) rs76537615
NM_000540.2(RYR1):c.5036G>A (p.Arg1679His) rs146504767
NM_000540.2(RYR1):c.5360C>T (p.Pro1787Leu) rs34934920
NM_000540.2(RYR1):c.5493G>T (p.Gly1831=) rs140004449
NM_000540.2(RYR1):c.5622A>G (p.Glu1874=) rs35021937
NM_000540.2(RYR1):c.5634_5636delGGA (p.Glu1878del) rs371047178
NM_000540.2(RYR1):c.573C>T (p.Asp191=) rs892054
NM_000540.2(RYR1):c.594A>G (p.Leu198=) rs2229139
NM_000540.2(RYR1):c.6127+1G>A rs1283302989
NM_000540.2(RYR1):c.6178G>T (p.Gly2060Cys) rs35364374
NM_000540.2(RYR1):c.6617C>T (p.Thr2206Met) rs118192177
NM_000540.2(RYR1):c.6654C>T (p.Gly2218=) rs149185729
NM_000540.2(RYR1):c.6721C>T rs200563280
NM_000540.2(RYR1):c.6838G>A (p.Val2280Ile) rs193922797
NM_000540.2(RYR1):c.7281C>T (p.Ala2427=) rs77310009
NM_000540.2(RYR1):c.7584C>T (p.Pro2528=) rs1465698
NM_000540.2(RYR1):c.7737G>A (p.Val2579=) rs114975624
NM_000540.2(RYR1):c.7835+7C>T rs114522234
NM_000540.2(RYR1):c.8068-14C>T rs57376136
NM_000540.2(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584
NM_000540.2(RYR1):c.8376G>A (p.Arg2792=) rs150388417
NM_000540.2(RYR1):c.8598C>T (p.Thr2866=) rs538250432
NM_000540.2(RYR1):c.8715G>C (p.Leu2905=) rs368684717
NM_000540.2(RYR1):c.873G>A (p.Ala291=) rs2229140
NM_000540.2(RYR1):c.897G>C (p.Val299=) rs76854339
NM_000540.2(RYR1):c.906C>T (p.Asp302=) rs145943283
NM_000540.2(RYR1):c.9571G>A (p.Gly3191Arg) rs756331568
NM_000540.2(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634
NM_000540.2(RYR1):c.9882C>T (p.Ser3294=) rs142610625
NM_000545.6(HNF1A):c.1375C>T (p.Leu459=) rs2259820
NM_000545.6(HNF1A):c.1425G>A (p.Pro475=) rs145589373
NM_000545.6(HNF1A):c.1460G>A (p.Ser487Asn) rs2464196
NM_000545.6(HNF1A):c.1501+7G>A rs2464195
NM_000545.6(HNF1A):c.1539C>T (p.Thr513=) rs193922584
NM_000545.6(HNF1A):c.1545G>A (p.Thr515=) rs55834942
NM_000545.6(HNF1A):c.276C>T (p.Leu92=) rs34056805
NM_000545.6(HNF1A):c.293C>T (p.Ala98Val) rs1800574
NM_000545.6(HNF1A):c.336G>A (p.Pro112=) rs371365341
NM_000545.6(HNF1A):c.51C>G (p.Leu17=) rs1169289
NM_000545.6(HNF1A):c.79A>C (p.Ile27Leu) rs1169288
NM_000545.6(HNF1A):c.92G>A (p.Gly31Asp) rs137853247
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578
NM_000546.5(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.5(TP53):c.704A>G (p.Asn235Ser) rs144340710
NM_000546.5(TP53):c.847C>T (p.Arg283Cys) rs149633775
NM_000546.5(TP53):c.848G>A (p.Arg283His) rs371409680
NM_000546.5(TP53):c.869G>A (p.Arg290His) rs55819519
NM_000547.5(TPO):c.30G>A (p.Thr10=) rs28909989
NM_000547.5(TPO):c.660C>T (p.Val220=) rs151154074
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.3126G>C (p.Pro1042=) rs36078782
NM_000548.3(TSC2):c.3883+8C>G rs45517316
NM_000548.3(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795
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_000548.4(TSC2):c.1110G>A (p.Gln370=) rs1800742
NM_000548.4(TSC2):c.1258-5G>T rs925954967
NM_000548.4(TSC2):c.1281C>A (p.Ile427=) rs45478892
NM_000548.4(TSC2):c.1543C>T (p.Leu515=) rs35896166
NM_000548.4(TSC2):c.1578C>T (p.Ser526=) rs34012042
NM_000548.4(TSC2):c.1747G>A (p.Ala583Thr) rs1800729
NM_000548.4(TSC2):c.2031C>T (p.Pro677=) rs45517208
NM_000548.4(TSC2):c.2331T>C (p.His777=) rs139963953
NM_000548.4(TSC2):c.2476C>A (p.Leu826Met) rs45517238
NM_000548.4(TSC2):c.2580T>C (p.Phe860=) rs13337626
NM_000548.4(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320
NM_000548.4(TSC2):c.3915G>A (p.Pro1305=) rs11551373
NM_000548.4(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000548.4(TSC2):c.4215C>T (p.Ala1405=) rs45517331
NM_000548.4(TSC2):c.4680C>T (p.Ala1560=) rs139507276
NM_000548.4(TSC2):c.482-3C>T rs1800720
NM_000548.4(TSC2):c.4911G>A (p.Lys1637=) rs35282988
NM_000548.4(TSC2):c.4983C>T (p.Thr1661=) rs35534817
NM_000548.4(TSC2):c.5161-10A>C rs1800718
NM_000548.4(TSC2):c.5321G>C (p.Ser1774Thr) rs9209
NM_000548.4(TSC2):c.5397G>C (p.Ser1799=) rs1051771
NM_000548.4(TSC2):c.729C>G (p.Leu243=) rs45473698
NM_000549.4(TSHB):c.373delT (p.Cys125Valfs) rs755485552
NM_000550.2(TYRP1):c.1261+1G>A rs140365820
NM_000550.2(TYRP1):c.278G>A (p.Arg93His) rs61752937
NM_000550.2(TYRP1):c.977G>A (p.Arg326His) rs16929374
NM_000551.3(VHL):c.74C>T (p.Pro25Leu) rs35460768
NM_000552.4(VWF):c.114C>T (p.Phe38=) rs2229443
NM_000553.4(WRN):c.1577-3C>A rs3087409
NM_000553.4(WRN):c.2361G>T (p.Leu787=) rs1800392
NM_000553.4(WRN):c.3138+6C>T rs3024239
NM_000553.4(WRN):c.3138+7G>A rs2737335
NM_000553.4(WRN):c.3222G>T (p.Leu1074Phe) rs1801195
NM_000553.4(WRN):c.3236C>T (p.Ser1079Leu) rs3087414
NM_000553.4(WRN):c.4083C>T (p.Ser1361=) rs1801196
NM_000553.4(WRN):c.4099T>C (p.Cys1367Arg) rs1346044
NM_000553.5(WRN):c.1161G>A (p.Met387Ile) rs1800391
NM_000553.5(WRN):c.340G>A (p.Val114Ile) rs2230009
NM_000686.4(AGTR2):c.62G>T (p.Gly21Val) rs121917810
NM_000702.3(ATP1A2):c.1119G>A (p.Ser373=) rs1063125
NM_000702.3(ATP1A2):c.129G>A (p.Lys43=) rs61734527
NM_000702.3(ATP1A2):c.1704C>T (p.Phe568=) rs17846714
NM_000702.3(ATP1A2):c.1980C>T (p.Cys660=) rs61734529
NM_000702.3(ATP1A2):c.2259C>T (p.Ala753=) rs17846715
NM_000702.3(ATP1A2):c.2563+4C>T rs3747626
NM_000702.3(ATP1A2):c.2961C>T (p.Cys987=) rs74123254
NM_000702.3(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766
NM_000702.3(ATP1A2):c.8G>A (p.Arg3His) rs781687346
NM_000709.3(BCKDHA):c.116C>A (p.Pro39His) rs11549936
NM_000709.3(BCKDHA):c.1221A>G (p.Leu407=) rs4674
NM_000709.3(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870
NM_000709.3(BCKDHA):c.34C>A (p.Arg12=) rs34541442
NM_000709.3(BCKDHA):c.972C>T (p.Phe324=) rs284652
NM_000726.4(CACNB4):c.1239G>A (p.Leu413=) rs1805028
NM_000726.4(CACNB4):c.1303-3T>C rs143442080
NM_000726.4(CACNB4):c.44C>G (p.Pro15Arg) rs200662010
NM_000726.4(CACNB4):c.5C>T (p.Ser2Phe) rs200092211
NM_000726.4(CACNB4):c.762T>A (p.Ile254=) rs61736804
NM_000742.3(CHRNA2):c.1234G>A (p.Glu412Lys) rs141721605
NM_000742.3(CHRNA2):c.1324C>T (p.Leu442=) rs56298562
NM_000742.3(CHRNA2):c.351C>T (p.Asp117=) rs2565061
NM_000742.3(CHRNA2):c.373A>G (p.Thr125Ala) rs891398
NM_000742.3(CHRNA2):c.65C>T (p.Thr22Ile) rs2472553
NM_000742.3(CHRNA2):c.771C>T (p.Tyr257=) rs56229264
NM_000742.3(CHRNA2):c.913C>T (p.Leu305=) rs114294066
NM_000744.6(CHRNA4):c.1047G>A (p.Leu349=) rs75593857
NM_000744.6(CHRNA4):c.1143C>T (p.Ala381=) rs75221202
NM_000744.6(CHRNA4):c.1209G>T (p.Pro403=) rs2229959
NM_000744.6(CHRNA4):c.1227T>C (p.Cys409=) rs2229960
NM_000744.6(CHRNA4):c.1353G>A (p.Pro451=) rs113168860
NM_000744.6(CHRNA4):c.1629C>T (p.Ser543=) rs1044396
NM_000744.6(CHRNA4):c.1659G>A (p.Ala553=) rs1044397
NM_000744.6(CHRNA4):c.189C>T (p.Leu63=) rs2273506
NM_000744.6(CHRNA4):c.24G>C (p.Ala8=) rs6089898
NM_000744.6(CHRNA4):c.51G>A (p.Leu17=) rs79739740
NM_000744.6(CHRNA4):c.639T>C (p.Asp213=) rs1044393
NM_000744.6(CHRNA4):c.678T>C (p.Cys226=) rs1044394
NM_000747.2(CHRNB1):c.1259T>C (p.Ile420Thr) rs76927517
NM_000747.2(CHRNB1):c.610+6T>C rs2302765
NM_000747.2(CHRNB1):c.821-9C>T rs76001008
NM_000748.2(CHRNB2):c.1191G>C (p.Gln397His) rs55685423
NM_000748.2(CHRNB2):c.1338+14G>T rs4845378
NM_000748.2(CHRNB2):c.1432T>C (p.Phe478Leu) rs79137415
NM_000748.2(CHRNB2):c.210+9A>G rs3926124
NM_000751.2(CHRND):c.1047+9T>C rs3762528
NM_000751.2(CHRND):c.120G>A (p.Lys40=) rs55921262
NM_000751.2(CHRND):c.243C>T (p.His81=) rs115841867
NM_000760.3(CSF3R):c.1458G>A (p.Thr486=) rs138289951
NM_000760.3(CSF3R):c.1748G>A (p.Arg583His) rs148104401
NM_000760.3(CSF3R):c.1919C>T (p.Thr640Ile) rs121918426
NM_000760.3(CSF3R):c.2422G>A (p.Glu808Lys) rs146617729
NM_000760.3(CSF3R):c.2496G>A (p.Ala832=) rs150501885
NM_000760.3(CSF3R):c.447G>C (p.Glu149Asp) rs139332126
NM_000784.3(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102
NM_000806.5(GABRA1):c.1323G>A (p.Thr441=) rs138259457
NM_000806.5(GABRA1):c.156T>C (p.Gly52=) rs1129647
NM_000806.5(GABRA1):c.74+9A>T rs41275339
NM_000806.5(GABRA1):c.96A>G (p.Gln32=) rs76224028
NM_000816.3(GABRG2):c.315C>T (p.Asn105=) rs11135176
NM_000816.3(GABRG2):c.354G>A (p.Ala118=) rs61735412
NM_000816.3(GABRG2):c.588C>T (p.Asn196=) rs211037
NM_000816.3(GABRG2):c.717A>G (p.Gln239=) rs78261481
NM_000828.4(GRIA3):c.1181G>A (p.Arg394Gln) rs138817389
NM_000828.4(GRIA3):c.1200T>C (p.Asn400=) rs502434
NM_000828.4(GRIA3):c.15G>A (p.Lys5=) rs61740996
NM_000833.4(GRIN2A):c.1275G>A (p.Leu425=) rs2229193
NM_000833.4(GRIN2A):c.1329-8C>T rs7193290
NM_000833.4(GRIN2A):c.2085G>C (p.Arg695=) rs9806806
NM_000833.4(GRIN2A):c.2190C>T (p.Tyr730=) rs61753382
NM_000833.4(GRIN2A):c.2277C>T (p.Thr759=) rs148846694
NM_000833.4(GRIN2A):c.2664G>A (p.Thr888=) rs113847665
NM_000833.4(GRIN2A):c.2883C>T (p.Asn961=) rs77705198
NM_000833.4(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465
NM_000833.4(GRIN2A):c.3190A>G (p.Thr1064Ala) rs138809301
NM_000833.4(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995
NM_000833.4(GRIN2A):c.3702C>T (p.Phe1234=) rs372083517
NM_000833.4(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086
NM_000833.4(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
NM_000833.4(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288
NM_000833.4(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353
NM_000833.4(GRIN2A):c.662A>G (p.Lys221Arg) rs61731464
NM_000834.3(GRIN2B):c.2514C>T (p.Cys838=) rs3026160
NM_000834.3(GRIN2B):c.2664C>T (p.Thr888=) rs1806201
NM_000834.3(GRIN2B):c.3747C>T (p.Gly1249=) rs138771137
NM_000834.4(GRIN2B):c.1500+7G>A rs201094275
NM_000834.4(GRIN2B):c.15G>A (p.Ala5=) rs34315573
NM_000834.4(GRIN2B):c.1665C>T (p.Ser555=) rs1805482
NM_000834.4(GRIN2B):c.1672G>A (p.Val558Ile) rs1057519004
NM_000834.4(GRIN2B):c.1806C>T (p.Ile602=) rs1805522
NM_000834.4(GRIN2B):c.1851C>T (p.Ser617=) rs147373250
NM_000834.4(GRIN2B):c.2002G>A (p.Asp668Asn) rs876661151
NM_000834.4(GRIN2B):c.2691C>T (p.Asn897=) rs35125534
NM_000834.4(GRIN2B):c.291G>A (p.Val97=) rs202223470
NM_000834.4(GRIN2B):c.3498C>T (p.Ser1166=) rs45600931
NM_000834.4(GRIN2B):c.3534C>T (p.His1178=) rs1806191
NM_000834.4(GRIN2B):c.366C>G (p.Pro122=) rs7301328
NM_000834.4(GRIN2B):c.381C>T (p.His127=) rs200608452
NM_000834.4(GRIN2B):c.3981G>A (p.Lys1327=) rs201670483
NM_000834.4(GRIN2B):c.4077C>T (p.Ala1359=) rs375217280
NM_000834.4(GRIN2B):c.4197T>C (p.His1399=) rs1805247
NM_000834.4(GRIN2B):c.4218C>T (p.Phe1406=) rs1805246
NM_000834.4(GRIN2B):c.4311C>T (p.Ala1437=) rs112265127
NM_000834.4(GRIN2B):c.504C>A (p.Ile168=) rs36031537
NM_000834.4(GRIN2B):c.870C>T (p.Pro290=) rs1124894
NM_000920.3(PC):c.1513+9C>A rs45580638
NM_000925.3(PDHB):c.438G>A (p.Gly146=) rs1126551
NM_000941.2(POR):c.683C>T (p.Pro228Leu) rs17853284
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) rs121434406
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys) rs11540832
NM_001001433.2(STX16):c.456G>T (p.Glu152Asp) rs138647604
NM_001002261.3(ZFYVE27):c.244G>A (p.Val82Ile) rs17108378
NM_001002261.3(ZFYVE27):c.378G>A (p.Lys126=) rs75060573
NM_001002261.3(ZFYVE27):c.413G>T (p.Gly138Val) rs10882993
NM_001003787.3(STRADA):c.135G>A (p.Ala45=) rs56163554
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys) rs797045412
NM_001003841.2(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346
NM_001005360.2(DNM2):c.1077C>T (p.Gly359=) rs112238216
NM_001005360.2(DNM2):c.1827C>T (p.Ser609=) rs371412466
NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001005360.2(DNM2):c.1880C>G (p.Pro627Arg) rs587783598
NM_001005360.2(DNM2):c.1902C>T (p.Asn634=) rs2229919
NM_001005360.2(DNM2):c.190G>A (p.Val64Ile) rs144250390
NM_001005360.2(DNM2):c.1973A>G (p.Asn658Ser) rs753175954
NM_001005360.2(DNM2):c.2061G>A (p.Thr687=) rs149164657
NM_001005360.2(DNM2):c.2139T>C (p.Ala713=) rs2229920
NM_001005360.2(DNM2):c.235+12C>A rs147026993
NM_001005360.2(DNM2):c.235+6A>G rs113192269
NM_001005360.2(DNM2):c.238C>T (p.His80Tyr) rs148790687
NM_001005360.2(DNM2):c.2543+7C>G rs201979143
NM_001005360.2(DNM2):c.633C>T (p.Asp211=) rs200191870
NM_001005360.2(DNM2):c.822G>A (p.Thr274=) rs201763720
NM_001005360.2(DNM2):c.958G>A (p.Asp320Asn) rs150613209
NM_001005741.2(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_001006657.1(WDR35):c.2099G>A (p.Arg700His) rs74470618
NM_001006657.1(WDR35):c.355C>T (p.Arg119Cys) rs140308808
NM_001007026.1(ATN1):c.1462CAG[17] (p.Gln488[17]) rs60216939
NM_001008537.2(NEXMIF):c.133G>A (p.Ala45Thr) rs199960807
NM_001008537.2(NEXMIF):c.151C>A (p.Pro51Thr) rs145018752
NM_001008537.2(NEXMIF):c.206C>T (p.Ser69Phe) rs201351157
NM_001008537.2(NEXMIF):c.2098G>C (p.Val700Leu) rs141776597
NM_001008537.2(NEXMIF):c.2130G>A (p.Lys710=) rs749479992
NM_001008537.2(NEXMIF):c.2598C>A (p.Ser866=) rs41298498
NM_001008537.2(NEXMIF):c.4246C>T (p.Pro1416Ser) rs143577015
NM_001008537.2(NEXMIF):c.4509T>C (p.Pro1503=) rs41303725
NM_001017420.2(ESCO2):c.1132-7A>G rs80359862
NM_001017420.2(ESCO2):c.239C>T (p.Ala80Val) rs4732748
NM_001017420.2(ESCO2):c.760delA (p.Thr254Leufs) rs80359852
NM_001017535.1(VDR):c.909C>T (p.Ala303=) rs12721365
NM_001018113.2(FANCB):c.1105-6_1105-3dupTATT rs398123537
NM_001018113.2(FANCB):c.127T>A (p.Leu43Ile) rs771007866
NM_001018113.2(FANCB):c.1494G>T (p.Lys498Asn) rs199510538
NM_001018113.2(FANCB):c.1996G>A (p.Gly666Ser) rs145110602
NM_001018113.2(FANCB):c.2452A>G (p.Arg818Gly) rs143131218
NM_001018115.2(FANCD2):c.1414-9C>T rs35557429
NM_001018115.2(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204
NM_001023570.3(IQCB1):c.1549A>T (p.Asn517Tyr) rs139468837
NM_001024630.3(RUNX2):c.193_213del (p.Gln65_Gln71del) rs774172072
NM_001029.5(RPS26):c.93C>T (p.Pro31=) rs760255764
NM_001031726.3(C19orf12):c.187G>C (p.Ala63Pro) rs376103979
NM_001031726.3(C19orf12):c.425A>C (p.Lys142Thr) rs79915936
NM_001031737.2(CCDC78):c.549G>A (p.Leu183=) rs8055909
NM_001031737.2(CCDC78):c.60T>C (p.Asn20=) rs73489339
NM_001031737.2(CCDC78):c.730G>A (p.Val244Ile) rs752077571
NM_001031737.2(CCDC78):c.803C>T (p.Thr268Met) rs77707419
NM_001031737.2(CCDC78):c.937C>T (p.Leu313=) rs61998209
NM_001031737.2(CCDC78):c.966C>A (p.Asn322Lys) rs148595483
NM_001032221.3(STXBP1):c.38-3T>C rs138763389
NM_001032221.3(STXBP1):c.734A>G (p.His245Arg) rs587784453
NM_001035256.2(POMC):c.289_297dup (p.Gly99_Ala100insSerSerGly) rs10654394
NM_001037.4(SCN1B):c.-9C>A rs66671189
NM_001037.4(SCN1B):c.253C>T (p.Arg85Cys) rs786205830
NM_001037.4(SCN1B):c.363C>G (p.Cys121Trp) rs104894718
NM_001037.4(SCN1B):c.412G>A (p.Val138Ile) rs72558029
NM_001037.4(SCN1B):c.501T>C (p.Ile167=) rs16969930
NM_001039590.2(USP9X):c.7440dupA (p.Ala2481Serfs) rs774054468
NM_001039891.2(ZNF674):c.1028C>T (p.Thr343Met) rs61730637
NM_001039891.2(ZNF674):c.601C>T (p.Arg201Ter) rs182004761
NM_001040616.2(LINS1):c.1124C>T (p.Thr375Ile) rs143097819
NM_001040616.2(LINS1):c.1479T>C (p.Cys493=) rs144513217
NM_001040616.2(LINS1):c.1813A>G (p.Met605Val) rs141855950
NM_001040616.2(LINS1):c.2119G>A (p.Gly707Arg) rs74039425
NM_001040616.2(LINS1):c.718C>T (p.Arg240Trp) rs145145735
NM_001042413.1(GLIS3):c.954C>T (p.Thr318=) rs75564360
NM_001042432.1(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_001042432.1(CLN3):c.1211A>G (p.His404Arg) rs77595156
NM_001042432.1(CLN3):c.313A>G (p.Ile105Val) rs11552531
NM_001042432.1(CLN3):c.768C>T (p.Thr256=) rs145967477
NM_001042472.2(ABHD12):c.1045G>A (p.Ala349Thr) rs746748
NM_001042472.2(ABHD12):c.1068T>C (p.Asp356=) rs10966
NM_001042472.2(ABHD12):c.837C>T (p.Arg279=) rs6107027
NM_001042492.2(NF1):c.*4T>C rs201044568
NM_001042492.2(NF1):c.1810T>C (p.Leu604=) rs142712751
NM_001042492.2(NF1):c.2022C>T (p.Ser674=) rs2230851
NM_001042492.2(NF1):c.2553C>T (p.Cys851=) rs2230852
NM_001042492.2(NF1):c.2622G>A (p.Lys874=) rs77917884
NM_001042492.2(NF1):c.3198-4T>C rs587782218
NM_001042492.2(NF1):c.340C>T (p.Leu114=) rs7207410
NM_001042492.2(NF1):c.6393C>T (p.His2131=) rs17881788
NM_001042492.2(NF1):c.7410T>C (p.Asn2470=) rs17881903
NM_001042492.2(NF1):c.8499T>C (p.Asn2833=) rs142636150
NM_001042537.1(SLC9A6):c.*12C>T rs190788663
NM_001042537.1(SLC9A6):c.1462+8G>A rs6654310
NM_001042537.1(SLC9A6):c.1703G>A (p.Arg568Gln) rs146263125
NM_001042537.1(SLC9A6):c.1755C>T (p.Ser585=) rs2307131
NM_001042537.1(SLC9A6):c.25G>T (p.Ala9Ser) rs201523857
NM_001044385.2(TMEM237):c.1065C>G (p.Leu355=) rs149240122
NM_001044385.2(TMEM237):c.1096G>T (p.Ala366Ser) rs73989521
NM_001044385.2(TMEM237):c.395+7A>G rs78297522
NM_001044385.2(TMEM237):c.9T>G (p.Thr3=) rs6736435
NM_001069.2(TUBB2A):c.1033A>T (p.Ile345Phe) rs797046074
NM_001077416.2(TMEM231):c.1050G>A (p.Val350=) rs149888762
NM_001077416.2(TMEM231):c.271C>G (p.Arg91Gly) rs375353411
NM_001077416.2(TMEM231):c.336G>C (p.Pro112=) rs78196225
NM_001077416.2(TMEM231):c.741+3A>G rs114290622
NM_001077416.2(TMEM231):c.741+8C>G rs144252983
NM_001077416.2(TMEM231):c.78C>G (p.Ser26Arg) rs3743601
NM_001077416.2(TMEM231):c.972G>A (p.Val324=) rs2242406
NM_001079802.1(FKTN):c.1026C>A (p.Leu342=) rs17309806
NM_001079802.1(FKTN):c.106-10G>A rs148384394
NM_001079802.1(FKTN):c.1336A>G (p.Asn446Asp) rs41313301
NM_001079802.1(FKTN):c.166-6A>G rs41277795
NM_001079802.1(FKTN):c.166C>T (p.Arg56Cys) rs41277797
NM_001079802.1(FKTN):c.167G>A (p.Arg56His) rs146951171
NM_001079802.1(FKTN):c.373G>A (p.Gly125Ser) rs34006675
NM_001079802.1(FKTN):c.608G>A (p.Arg203Gln) rs34787999
NM_001079802.1(FKTN):c.668C>T (p.Thr223Ile) rs116105846
NM_001079802.1(FKTN):c.910+14G>A rs76180538
NM_001080.3(ALDH5A1):c.10T>G (p.Cys4Gly) rs200793796
NM_001080.3(ALDH5A1):c.1344-6T>C rs368212282
NM_001080.3(ALDH5A1):c.538C>T (p.His180Tyr) rs2760118
NM_001080.3(ALDH5A1):c.545C>T (p.Pro182Leu) rs3765310
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met) rs115784602
NM_001080463.1(DYNC2H1):c.10885C>A (p.Arg3629=) rs117178504
NM_001080463.1(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840
NM_001080522.2(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095
NM_001080522.2(CC2D2A):c.124-6C>T rs1861049
NM_001080522.2(CC2D2A):c.1339delG (p.Ala447Argfs) rs386833745
NM_001080522.2(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937
NM_001080522.2(CC2D2A):c.156C>T (p.Ser52=) rs1861050
NM_001080522.2(CC2D2A):c.1764+45T>G rs1558572
NM_001080522.2(CC2D2A):c.1765-24A>G rs1861044
NM_001080522.2(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001080522.2(CC2D2A):c.2003+19C>T rs17476642
NM_001080522.2(CC2D2A):c.2050T>A (p.Leu684Ile) rs190698163
NM_001080522.2(CC2D2A):c.2182-24C>T rs2041673
NM_001080522.2(CC2D2A):c.247+26A>G rs10000250
NM_001080522.2(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641
NM_001080522.2(CC2D2A):c.2830-38G>T rs35309200
NM_001080522.2(CC2D2A):c.3183-8T>C rs13121363
NM_001080522.2(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627
NM_001080522.2(CC2D2A):c.3288+41A>C rs13116304
NM_001080522.2(CC2D2A):c.3289delG (p.Val1097Phefs) rs386833751
NM_001080522.2(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948
NM_001080522.2(CC2D2A):c.3595-22C>T rs4280724
NM_001080522.2(CC2D2A):c.3872T>C (p.Ile1291Thr) rs370492044
NM_001080522.2(CC2D2A):c.4065+28A>T rs6832789
NM_001080522.2(CC2D2A):c.4179+1delG (p.Gly1394Valfs) rs386833760
NM_001080522.2(CC2D2A):c.4296T>C (p.Cys1432=) rs372671421
NM_001080522.2(CC2D2A):c.4465_4468delGACA (p.Asp1489Lysfs) rs797045437
NM_001080522.2(CC2D2A):c.517C>T (p.Arg173Ter) rs386833763
NM_001080522.2(CC2D2A):c.541-25G>T rs16892080
NM_001080522.2(CC2D2A):c.777C>T (p.His259=) rs2286976
NM_001082486.1(ACD):c.390C>T (p.Gly130=) rs138527794
NM_001082538.2(TCTN1):c.1234A>G (p.Ile412Val) rs75714509
NM_001082538.2(TCTN1):c.1396G>T (p.Gly466Cys) rs118096349
NM_001082538.2(TCTN1):c.220+12G>C rs76843552
NM_001082538.2(TCTN1):c.473-10T>A rs12307716
NM_001082538.2(TCTN1):c.702_704delTAA (p.Asn235del) rs797046038
NM_001082538.2(TCTN1):c.894C>T (p.Leu298=) rs16940927
NM_001083961.1(WDR62):c.*5G>A rs61740165
NM_001083961.1(WDR62):c.1228G>T (p.Val410Leu) rs139460397
NM_001083961.1(WDR62):c.1233+13C>T rs76130844
NM_001083961.1(WDR62):c.1233+15delC rs373693641
NM_001083961.1(WDR62):c.1359C>T (p.Asn453=) rs148667984
NM_001083961.1(WDR62):c.142C>T (p.Leu48Phe) rs62109744
NM_001083961.1(WDR62):c.1470C>T (p.Asp490=) rs45567532
NM_001083961.1(WDR62):c.1576G>A (p.Glu526Lys) rs147875659
NM_001083961.1(WDR62):c.1641G>A (p.Thr547=) rs2301734
NM_001083961.1(WDR62):c.1641G>T (p.Thr547=) rs2301734
NM_001083961.1(WDR62):c.1642+8C>T rs143309981
NM_001083961.1(WDR62):c.1643-10C>T rs4806263
NM_001083961.1(WDR62):c.1643-39G>A rs2301735
NM_001083961.1(WDR62):c.180G>A (p.Val60=) rs61742664
NM_001083961.1(WDR62):c.186C>T (p.Leu62=) rs11538454
NM_001083961.1(WDR62):c.2147-34G>A rs2301736
NM_001083961.1(WDR62):c.2211-4G>A rs202109439
NM_001083961.1(WDR62):c.2271G>A (p.Leu757=) rs61494900
NM_001083961.1(WDR62):c.2281C>T (p.His761Tyr) rs61744321
NM_001083961.1(WDR62):c.2334-29C>T rs2301737
NM_001083961.1(WDR62):c.2334-6C>A rs138928852
NM_001083961.1(WDR62):c.2529C>T (p.Asp843=) rs144697999
NM_001083961.1(WDR62):c.2549T>C (p.Leu850Ser) rs2285745
NM_001083961.1(WDR62):c.2666T>C (p.Met889Thr) rs139749569
NM_001083961.1(WDR62):c.269+12delA rs797046108
NM_001083961.1(WDR62):c.2766C>T (p.Arg922=) rs373906889
NM_001083961.1(WDR62):c.2975C>T (p.Ser992Leu) rs74518295
NM_001083961.1(WDR62):c.2976G>A (p.Ser992=) rs757294519
NM_001083961.1(WDR62):c.2991C>T (p.Ala997=) rs77898819
NM_001083961.1(WDR62):c.3033G>A (p.Pro1011=) rs118175551
NM_001083961.1(WDR62):c.3303G>A (p.Thr1101=) rs117887683
NM_001083961.1(WDR62):c.3401T>G (p.Met1134Arg) rs61741470
NM_001083961.1(WDR62):c.3468C>T (p.Leu1156=) rs17851502
NM_001083961.1(WDR62):c.3612C>T (p.Gly1204=) rs139946168
NM_001083961.1(WDR62):c.3639C>T (p.Ser1213=) rs45470992
NM_001083961.1(WDR62):c.3674G>A (p.Arg1225His) rs61743589
NM_001083961.1(WDR62):c.3786C>T (p.Gly1262=) rs148415080
NM_001083961.1(WDR62):c.3812C>T (p.Ala1271Val) rs111294536
NM_001083961.1(WDR62):c.3946C>G (p.Gln1316Glu) rs35811023
NM_001083961.1(WDR62):c.4123G>A (p.Gly1375Ser) rs17851503
NM_001083961.1(WDR62):c.4159C>A (p.Leu1387Ile) rs147652186
NM_001083961.1(WDR62):c.4312-5T>G rs182467995
NM_001083961.1(WDR62):c.4338C>T (p.Thr1446=) rs149289227
NM_001083961.1(WDR62):c.562-13C>T rs78138007
NM_001083961.1(WDR62):c.700-18C>T rs10423651
NM_001083961.1(WDR62):c.866A>G (p.Lys289Arg) rs12327568
NM_001083962.1(TCF4):c.1299G>A (p.Leu433=) rs552340151
NM_001083962.1(TCF4):c.1354G>A (p.Gly452Arg) rs138570124
NM_001083962.1(TCF4):c.1419G>C (p.Pro473=) rs143944746
NM_001083962.1(TCF4):c.1487-5G>A rs749176054
NM_001083962.1(TCF4):c.1739G>A (p.Arg580Gln) rs121909121
NM_001083962.1(TCF4):c.1741G>T (p.Val581Phe) rs587784460
NM_001083962.1(TCF4):c.1905G>A (p.Ala635=) rs151150677
NM_001083962.1(TCF4):c.1923G>A (p.Glu641=) rs76956936
NM_001083962.1(TCF4):c.1965dupC (p.Gly656Argfs) rs797046035
NM_001083962.1(TCF4):c.504A>G (p.Val168=) rs370160994
NM_001083962.1(TCF4):c.944C>T (p.Ala315Val) rs147445499
NM_001083962.1(TCF4):c.990G>A (p.Ser330=) rs587784469
NM_001098.2(ACO2):c.192A>C (p.Thr64=) rs137831
NM_001098.2(ACO2):c.670C>T (p.Leu224=) rs1799932
NM_001099274.1(TINF2):c.400-9C>T rs201087708
NM_001099274.2(TINF2):c.1092G>A (p.Leu364=) rs184422577
NM_001099922.2(ALG13):c.3143C>G (p.Ala1048Gly) rs773401427
NM_001100.3(ACTA1):c.130-10G>C rs41271481
NM_001100.3(ACTA1):c.130-5T>C rs11803533
NM_001100.3(ACTA1):c.809G>A (p.Gly270Asp) rs1553255362
NM_001100.3(ACTA1):c.996C>A (p.Ile332=) rs74897770
NM_001101.4(ACTB):c.-6-4G>T rs13447394
NM_001101.4(ACTB):c.1023C>T (p.Ile341=) rs58704474
NM_001101.4(ACTB):c.547C>T (p.Arg183Trp) rs104894003
NM_001101.4(ACTB):c.625G>A (p.Val209Met) rs587779777
NM_001101.4(ACTB):c.942G>A (p.Gln314=) rs11546939
NM_001101362.2(KBTBD13):c.1128G>A (p.Thr376=) rs116623596
NM_001101362.2(KBTBD13):c.1197C>T (p.Arg399=) rs150830358
NM_001101362.2(KBTBD13):c.188A>T (p.Gln63Leu) rs202004658
NM_001101362.2(KBTBD13):c.244G>A (p.Val82Met) rs1303411209
NM_001101362.2(KBTBD13):c.794G>A (p.Gly265Asp) rs146917406
NM_001101362.2(KBTBD13):c.954C>G (p.Thr318=) rs368781046
NM_001101426.3(CRPPA):c.1220T>C (p.Leu407Ser) rs141625803
NM_001101426.3(CRPPA):c.277_279delATT (p.Ile93del) rs397515398
NM_001101426.3(CRPPA):c.32C>G (p.Pro11Arg) rs192925278
NM_001101426.3(CRPPA):c.407C>T (p.Ala136Val) rs61734789
NM_001101426.3(CRPPA):c.726A>G (p.Gln242=) rs61746966
NM_001104631.1(PDE4D):c.1762A>G (p.Met588Val) rs1554033934
NM_001105243.1(PCDH19):c.1683G>A (p.Pro561=) rs192354176
NM_001105243.1(PCDH19):c.1725C>T (p.Val575=) rs200471732
NM_001105243.1(PCDH19):c.2655C>T (p.Asn885=) rs193148631
NM_001105243.1(PCDH19):c.2797C>T (p.Arg933Cys) rs3764758
NM_001105243.1(PCDH19):c.531G>A (p.Glu177=) rs192122222
NM_001105243.1(PCDH19):c.6G>A (p.Glu2=) rs184883626
NM_001105243.1(PCDH19):c.769G>C (p.Val257Leu) rs201713027
NM_001105243.1(PCDH19):c.790G>T (p.Asp264Tyr) rs587784300
NM_001109809.2(ZFP57):c.1086T>C (p.Thr362=) rs61730326
NM_001109809.2(ZFP57):c.374G>A (p.Arg125Gln) rs114591600
NM_001109809.2(ZFP57):c.593A>G (p.Asn198Ser) rs9461544
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.4920G>A (p.Gly1640=) rs61741041
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.42_47dupAGGAGG (p.Gly16_Glu17insGlyGly) rs587783744
NM_001110792.1(MECP2):c.885C>G (p.Ala295=) rs61750253
NM_001110792.1(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001111125.2(IQSEC2):c.1641G>A (p.Ala547=) rs61745228
NM_001111125.2(IQSEC2):c.2571C>A (p.Ile857=) rs146979083
NM_001111125.2(IQSEC2):c.3663A>G (p.Pro1221=) rs797045629
NM_001111125.2(IQSEC2):c.3735C>T (p.His1245=) rs797045630
NM_001111125.2(IQSEC2):c.3990G>A (p.Gly1330=) rs371450118
NM_001111125.2(IQSEC2):c.4104G>A (p.Leu1368=) rs184087864
NM_001111125.2(IQSEC2):c.578G>C (p.Gly193Ala) rs782357394
NM_001111125.2(IQSEC2):c.618C>T (p.Ser206=) rs370573314
NM_001113378.1(FANCI):c.1326G>A (p.Glu442=) rs34405660
NM_001113378.1(FANCI):c.1573A>G (p.Met525Val) rs144908351
NM_001113378.1(FANCI):c.1813C>T (p.Leu605Phe) rs117125761
NM_001113378.1(FANCI):c.2487T>G (p.Leu829=) rs145762491
NM_001113378.1(FANCI):c.2997C>T (p.Ser999=) rs138675752
NM_001113378.1(FANCI):c.3055C>T (p.Arg1019Trp) rs149167939
NM_001113378.1(FANCI):c.3525C>A (p.Ala1175=) rs114810692
NM_001114636.1(FANCL):c.1111_1114dupATTA (p.Thr372Asnfs) rs759217526
NM_001114748.1(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001127221.1(CACNA1A):c.1182G>A (p.Glu394=) rs2248069
NM_001127221.1(CACNA1A):c.1629G>A (p.Thr543=) rs16011
NM_001127221.1(CACNA1A):c.1779C>G (p.Val593=) rs16012
NM_001127221.1(CACNA1A):c.2094G>A (p.Thr698=) rs16016
NM_001127221.1(CACNA1A):c.2195A>C (p.Glu732Ala) rs16019
NM_001127221.1(CACNA1A):c.2740C>T (p.Pro914Ser) rs16020
NM_001127221.1(CACNA1A):c.2742C>T (p.Pro914=) rs16021
NM_001127221.1(CACNA1A):c.2754G>C (p.Glu918Asp) rs16022
NM_001127221.1(CACNA1A):c.2978A>T (p.Glu993Val) rs16023
NM_001127221.1(CACNA1A):c.3031C>G (p.Pro1011Ala) rs28413664
NM_001127221.1(CACNA1A):c.3060G>A (p.Arg1020=) rs16025
NM_001127221.1(CACNA1A):c.3240C>T (p.Ala1080=) rs16026
NM_001127221.1(CACNA1A):c.3313G>A (p.Gly1105Ser) rs16027
NM_001127221.1(CACNA1A):c.3549C>T (p.Val1183=) rs16029
NM_001127221.1(CACNA1A):c.3864T>C (p.Phe1288=) rs16030
NM_001127221.1(CACNA1A):c.462C>T (p.Ala154=) rs1800039
NM_001127221.1(CACNA1A):c.5742C>T (p.Ala1914=) rs16044
NM_001127221.1(CACNA1A):c.579G>A (p.Thr193=) rs41276894
NM_001127221.1(CACNA1A):c.6345C>G (p.Thr2115=) rs16049
NM_001127221.1(CACNA1A):c.6381C>T (p.Ser2127=) rs16050
NM_001127221.1(CACNA1A):c.654G>C (p.Ser218=) rs201991581
NM_001127221.1(CACNA1A):c.6660T>C (p.His2220=) rs16051
NM_001127221.1(CACNA1A):c.6661_6662insACC (p.His2220_Pro2221insHis) rs768950814
NM_001127221.1(CACNA1A):c.876A>G (p.Glu292=) rs16006
NM_001127464.2(ZNF469):c.4388C>T (p.Thr1463Met) rs375045076
NM_001128425.1(MUTYH):c.1187G>A (p.Gly396Asp) rs36053993
NM_001128849.1(SMARCA4):c.*1G>T rs76118382
NM_001128849.1(SMARCA4):c.1114T>C (p.Tyr372His) rs140192268
NM_001128849.1(SMARCA4):c.1118+7delG rs774132615
NM_001128849.1(SMARCA4):c.1140C>T (p.His380=) rs114594206
NM_001128849.1(SMARCA4):c.120C>T (p.His40=) rs375884151
NM_001128849.1(SMARCA4):c.1287G>A (p.Ala429=) rs143600641
NM_001128849.1(SMARCA4):c.1413G>A (p.Lys471=) rs17001073
NM_001128849.1(SMARCA4):c.1419+7T>C rs112977340
NM_001128849.1(SMARCA4):c.1419+8C>T rs115492175
NM_001128849.1(SMARCA4):c.1419+9C>T rs374635008
NM_001128849.1(SMARCA4):c.1509A>G (p.Ala503=) rs17001075
NM_001128849.1(SMARCA4):c.1748A>G (p.Lys583Arg) rs1043517699
NM_001128849.1(SMARCA4):c.1791T>G (p.Pro597=) rs141806282
NM_001128849.1(SMARCA4):c.2001+8T>G rs112549813
NM_001128849.1(SMARCA4):c.223-5C>T rs376775933
NM_001128849.1(SMARCA4):c.2275-3C>A rs117611401
NM_001128849.1(SMARCA4):c.2438+10C>T rs370782232
NM_001128849.1(SMARCA4):c.2460C>T (p.Tyr820=) rs372410282
NM_001128849.1(SMARCA4):c.2739G>A (p.Pro913=) rs183695281
NM_001128849.1(SMARCA4):c.2757C>T (p.Pro919=) rs113955216
NM_001128849.1(SMARCA4):c.2936G>A (p.Arg979Gln) rs797045981
NM_001128849.1(SMARCA4):c.2967C>T (p.Pro989=) rs149874634
NM_001128849.1(SMARCA4):c.3045C>T (p.Gly1015=) rs56101423
NM_001128849.1(SMARCA4):c.3732C>T (p.Arg1244=) rs797045983
NM_001128849.1(SMARCA4):c.3975C>T (p.Arg1325=) rs144803359
NM_001128849.1(SMARCA4):c.4152G>A (p.Thr1384=) rs372620534
NM_001128849.1(SMARCA4):c.4590C>T (p.Tyr1530=) rs139505007
NM_001128849.1(SMARCA4):c.4680C>T (p.Asp1560=) rs9105
NM_001128849.1(SMARCA4):c.4864+10G>A rs201665695
NM_001128849.1(SMARCA4):c.589C>T (p.Pro197Ser) rs200664441
NM_001128849.1(SMARCA4):c.708T>C (p.Pro236=) rs62639303
NM_001128849.1(SMARCA4):c.722_733delGTCCCGGCCCGG (p.Gly241_Pro244del) rs568390760
NM_001128849.1(SMARCA4):c.747C>T (p.Tyr249=) rs756224211
NM_001128849.1(SMARCA4):c.915G>A (p.Pro305=) rs149573400
NM_001128849.1(SMARCA4):c.930C>A (p.Arg310=) rs146141457
NM_001128849.1(SMARCA4):c.981A>C (p.Pro327=) rs547268941
NM_001130438.2(SPTAN1):c.1221+11C>T rs113357847
NM_001130438.2(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939
NM_001130438.2(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650
NM_001130438.2(SPTAN1):c.1511C>T (p.Ala504Val) rs148727077
NM_001130438.2(SPTAN1):c.1737C>T (p.Phe579=) rs143941068
NM_001130438.2(SPTAN1):c.2343C>A (p.Ala781=) rs34084388
NM_001130438.2(SPTAN1):c.237+4C>T rs371350283
NM_001130438.2(SPTAN1):c.2889G>A (p.Thr963=) rs34654141
NM_001130438.2(SPTAN1):c.3042T>G (p.Gly1014=) rs150870424
NM_001130438.2(SPTAN1):c.3051G>A (p.Pro1017=) rs140279996
NM_001130438.2(SPTAN1):c.3215+15_3215+16delAG rs551595039
NM_001130438.2(SPTAN1):c.3300G>A (p.Ala1100=) rs2227865
NM_001130438.2(SPTAN1):c.3415-9G>T rs199802986
NM_001130438.2(SPTAN1):c.3520-14C>G rs142682344
NM_001130438.2(SPTAN1):c.3546T>C (p.Asp1182=) rs945831
NM_001130438.2(SPTAN1):c.3579+3_3579+4dup rs797046004
NM_001130438.2(SPTAN1):c.3673C>T (p.Arg1225Trp) rs569997507
NM_001130438.2(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250
NM_001130438.2(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100
NM_001130438.2(SPTAN1):c.4410C>T (p.Thr1470=) rs2228951
NM_001130438.2(SPTAN1):c.5149-10C>T rs587784437
NM_001130438.2(SPTAN1):c.5437C>A (p.Arg1813=) rs3750333
NM_001130438.2(SPTAN1):c.5478+12G>A rs41275900
NM_001130438.2(SPTAN1):c.5523C>T (p.Ile1841=) rs79569204
NM_001130438.2(SPTAN1):c.5925G>A (p.Ala1975=) rs11543345
NM_001130438.2(SPTAN1):c.6042T>G (p.Ser2014=) rs142830725
NM_001130438.2(SPTAN1):c.6111C>T (p.Gly2037=) rs139799727
NM_001130438.2(SPTAN1):c.6234C>T (p.Ala2078=) rs147132904
NM_001130438.2(SPTAN1):c.6235G>A (p.Ala2079Thr) rs377253398
NM_001130438.2(SPTAN1):c.6498C>A (p.Arg2166=) rs72758823
NM_001130438.2(SPTAN1):c.6498C>T (p.Arg2166=) rs72758823
NM_001130438.2(SPTAN1):c.6660C>T (p.Asn2220=) rs112955915
NM_001130438.2(SPTAN1):c.6708-7C>T rs16930539
NM_001130438.2(SPTAN1):c.6908_6916dupACCAGCTGG (p.Leu2305_Gly2306insAspGlnLeu) rs587784440
NM_001130438.2(SPTAN1):c.6960-8T>C rs140241053
NM_001130438.2(SPTAN1):c.7161-9C>T rs187613754
NM_001130438.2(SPTAN1):c.7389C>T (p.Thr2463=) rs2228952
NM_001130438.2(SPTAN1):c.862G>C (p.Ala288Pro) rs796053298
NM_001130438.2(SPTAN1):c.979C>T (p.Leu327=) rs587784442
NM_001135243.1(TCOF1):c.122C>T (p.Ala41Val) rs56180593
NM_001135243.1(TCOF1):c.1578C>T (p.Pro526=) rs2071238
NM_001135243.1(TCOF1):c.162A>G (p.Gln54=) rs73270831
NM_001135243.1(TCOF1):c.1761G>T (p.Gly587=) rs7701163
NM_001135243.1(TCOF1):c.1842A>G (p.Ser614=) rs2071239
NM_001135243.1(TCOF1):c.1993G>C (p.Ala665Pro) rs2071240
NM_001135243.1(TCOF1):c.2094A>G (p.Glu698=) rs34796297
NM_001135243.1(TCOF1):c.2245C>T (p.Pro749Ser) rs73270846
NM_001135243.1(TCOF1):c.2660T>C (p.Val887Ala) rs7713638
NM_001135243.1(TCOF1):c.2765C>T (p.Ser922Leu) rs114689020
NM_001135243.1(TCOF1):c.3527C>G (p.Pro1176Arg) rs1136103
NM_001135243.1(TCOF1):c.3601-3C>T rs11743855
NM_001135243.1(TCOF1):c.3709G>A (p.Ala1237Thr) rs137960641
NM_001135243.1(TCOF1):c.4169C>T (p.Ala1390Val) rs15251
NM_001135243.1(TCOF1):c.4292G>C (p.Gly1431Ala) rs45491898
NM_001135244.1(TCOF1):c.1281G>A (p.Ala427=) rs113299143
NM_001135659.2(NRXN1):c.105C>A (p.Gly35=) rs55640811
NM_001135659.2(NRXN1):c.1278+5A>T rs201802152
NM_001135659.2(NRXN1):c.1405C>T (p.Pro469Ser) rs78540316
NM_001135659.2(NRXN1):c.1446A>C (p.Val482=) rs201485014
NM_001135659.2(NRXN1):c.1485T>C (p.Leu495=) rs201727684
NM_001135659.2(NRXN1):c.1695A>G (p.Arg565=) rs201941844
NM_001135659.2(NRXN1):c.1869C>T (p.Asp623=) rs199934259
NM_001135659.2(NRXN1):c.2065A>G (p.Ile689Val) rs200074974
NM_001135659.2(NRXN1):c.222C>T (p.Gly74=) rs201592993
NM_001135659.2(NRXN1):c.2242C>A (p.Leu748Ile) rs56086732
NM_001135659.2(NRXN1):c.2541C>T (p.Asn847=) rs115211871
NM_001135659.2(NRXN1):c.2579G>A (p.Ser860Asn) rs80293130
NM_001135659.2(NRXN1):c.2627C>T (p.Ala876Val) rs199557987
NM_001135659.2(NRXN1):c.2725C>A (p.Leu909Met) rs201818223
NM_001135659.2(NRXN1):c.2892C>T (p.Tyr964=) rs200182626
NM_001135659.2(NRXN1):c.3165C>T (p.Ala1055=) rs56402642
NM_001135659.2(NRXN1):c.3210A>C (p.Gly1070=) rs201886024
NM_001135659.2(NRXN1):c.3339C>T (p.Asn1113=) rs563089155
NM_001135659.2(NRXN1):c.3369C>T (p.Pro1123=) rs116236999
NM_001135659.2(NRXN1):c.3528G>A (p.Thr1176=) rs80094872
NM_001135659.2(NRXN1):c.4053A>G (p.Ala1351=) rs79970751
NM_001135659.2(NRXN1):c.4188G>A (p.Thr1396=) rs74714098
NM_001135659.2(NRXN1):c.4287C>G (p.Pro1429=) rs143446587
NM_001135659.2(NRXN1):c.4356C>T (p.Gly1452=) rs587781101
NM_001135659.2(NRXN1):c.4368G>A (p.Pro1456=) rs151195816
NM_001135659.2(NRXN1):c.4374A>G (p.Pro1458=) rs55923848
NM_001135659.2(NRXN1):c.4395G>T (p.Arg1465=) rs143495349
NM_001135659.2(NRXN1):c.4512T>C (p.His1504=) rs112536447
NM_001135659.2(NRXN1):c.4593G>A (p.Ala1531=) rs113380721
NM_001135659.2(NRXN1):c.501C>G (p.Leu167=) rs200248561
NM_001135659.2(NRXN1):c.511C>T (p.Leu171=) rs1045874
NM_001135659.2(NRXN1):c.773-9C>G rs199645252
NM_001135659.2(NRXN1):c.871+9G>A rs61658382
NM_001135659.2(NRXN1):c.999C>T (p.Pro333=) rs2303298
NM_001142633.2(PIK3R5):c.1011C>T (p.Asp337=) rs16957702
NM_001142633.2(PIK3R5):c.1075T>C (p.Leu359=) rs381309
NM_001142633.2(PIK3R5):c.1101G>A (p.Ser367=) rs9915880
NM_001142633.2(PIK3R5):c.837C>T (p.His279=) rs394811
NM_001142633.2(PIK3R5):c.933A>G (p.Leu311=) rs11650737
NM_001143979.1(NDE1):c.572C>T (p.Thr191Ile) rs113493697
NM_001143979.1(NDE1):c.744G>A (p.Ala248=) rs1123418
NM_001143979.1(NDE1):c.837C>T (p.Tyr279=) rs17283846
NM_001143979.1(NDE1):c.948-6917G>A rs35295469
NM_001143979.1(NDE1):c.948-6986C>T rs1050162
NM_001143979.1(NDE1):c.948-7025C>T rs1050163
NM_001145661.1(GATA2):c.480C>T (p.Thr160=) rs199640729
NM_001146261.2(SYT14):c.1554T>C (p.Tyr518=) rs17188183
NM_001163809.1(WDR81):c.4971A>G (p.Leu1657=) rs3809872
NM_001163809.1(WDR81):c.5127G>A (p.Pro1709=) rs8065251
NM_001165928.3(DAG1):c.2256C>T (p.His752=) rs1801143
NM_001165963.1(SCN1A):c.1131A>C (p.Arg377=) rs114137271
NM_001165963.1(SCN1A):c.1212A>G (p.Val404=) rs7580482
NM_001165963.1(SCN1A):c.1378-3T>C rs150964803
NM_001165963.1(SCN1A):c.1410C>T (p.Ser470=) rs142571794
NM_001165963.1(SCN1A):c.1662+9C>A rs7559148
NM_001165963.1(SCN1A):c.2292T>C (p.Val764=) rs6432860
NM_001165963.1(SCN1A):c.2889T>C (p.Ala963=) rs144679294
NM_001165963.1(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771
NM_001165963.1(SCN1A):c.345T>C (p.Asn115=) rs61741123
NM_001165963.1(SCN1A):c.3705+10delA rs570862962
NM_001165963.1(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122
NM_001165963.1(SCN1A):c.4887C>T (p.Phe1629=) rs587780445
NM_001165963.1(SCN1A):c.5346C>T (p.Ile1782=) rs121918763
NM_001165963.1(SCN1A):c.5418G>A (p.Glu1806=) rs140237315
NM_001165963.1(SCN1A):c.5797delC (p.Arg1933Glufs) rs587780446
NM_001165963.1(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053
NM_001168379.1(ZIC4):c.1080G>C (p.Ser360=) rs17509456
NM_001172574.1(MCPH1):c.1728C>T (p.Gly576=) rs41313954
NM_001172574.1(MCPH1):c.23-15A>G rs146351889
NM_001173991.2(TMEM216):c.264G>A (p.Pro88=) rs3741265
NM_001182.4(ALDH7A1):c.1234A>G (p.Thr412Ala) rs2306618
NM_001182.4(ALDH7A1):c.1315A>C (p.Lys439Gln) rs12514417
NM_001182.4(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684
NM_001182.4(ALDH7A1):c.201G>T (p.Thr67=) rs747643987
NM_001182.4(ALDH7A1):c.273T>C (p.Thr91=) rs60720055
NM_001182.4(ALDH7A1):c.373A>G (p.Ile125Val) rs117295656
NM_001182.4(ALDH7A1):c.675C>T (p.Leu225=) rs57902950
NM_001184.3(ATR):c.1326A>G (p.Lys442=) rs28897765
NM_001184.3(ATR):c.1776T>A (p.Gly592=) rs2227930
NM_001184.3(ATR):c.1950G>A (p.Glu650=) rs28910270
NM_001184.3(ATR):c.2205C>T (p.His735=) rs148955716
NM_001184.3(ATR):c.2290A>G (p.Lys764Glu) rs77208665
NM_001184.3(ATR):c.2442A>G (p.Glu814=) rs55895932
NM_001184.3(ATR):c.268C>T (p.His90Tyr) rs28897763
NM_001184.3(ATR):c.2776T>C (p.Phe926Leu) rs141783863
NM_001184.3(ATR):c.2875G>A (p.Val959Met) rs28910271
NM_001184.3(ATR):c.3120G>A (p.Leu1040=) rs28910272
NM_001184.3(ATR):c.4002G>A (p.Gln1334=) rs56026468
NM_001184.3(ATR):c.423T>C (p.Ile141=) rs10935466
NM_001184.3(ATR):c.4764C>T (p.Leu1588=) rs142240637
NM_001184.3(ATR):c.4835A>G (p.Asn1612Ser) rs55894265
NM_001184.3(ATR):c.5208T>C (p.Tyr1736=) rs2227931
NM_001184.3(ATR):c.5460T>C (p.Tyr1820=) rs2227932
NM_001184.3(ATR):c.5868C>T (p.Tyr1956=) rs112018640
NM_001184.3(ATR):c.632T>C (p.Met211Thr) rs2227928
NM_001184.3(ATR):c.6394T>G (p.Tyr2132Asp) rs28910273
NM_001184.3(ATR):c.7274G>A (p.Arg2425Gln) rs2229032
NM_001184.3(ATR):c.7300C>G (p.Pro2434Ala) rs33972295
NM_001184.3(ATR):c.7875G>A (p.Gln2625=) rs1802904
NM_001184.3(ATR):c.891G>C (p.Lys297Asn) rs2229033
NM_001184.3(ATR):c.946G>A (p.Val316Ile) rs28897764
NM_001184.3(ATR):c.992A>G (p.Asp331Gly) rs150008448
NM_001184880.1(PCDH19):c.1330A>G (p.Thr444Ala) rs201671718
NM_001184880.1(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774
NM_001184880.1(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001184880.1(PCDH19):c.3439G>A (p.Val1147Ile) rs138771033
NM_001184880.1(PCDH19):c.513C>T (p.Asn171=) rs749602848
NM_001184880.1(PCDH19):c.81C>T (p.Tyr27=) rs56307810
NM_001184880.1(PCDH19):c.942G>A (p.Leu314=) rs773740606
NM_001197104.1(KMT2A):c.1810A>G (p.Met604Val) rs150328852
NM_001197104.1(KMT2A):c.3461G>A (p.Arg1154Gln) rs1131691799
NM_001197104.1(KMT2A):c.89C>G (p.Ala30Gly) rs9332745
NM_001199107.1(TBC1D24):c.1002C>T (p.Ala334=) rs184389316
NM_001199107.1(TBC1D24):c.1327G>A (p.Glu443Lys) rs141399869
NM_001199981.1(NDUFS1):c.1143A>G (p.Arg381=) rs1801318
NM_001199981.1(NDUFS1):c.858G>T (p.Ala286=) rs1127566
NM_001204831.2(ANO10):c.1066A>G (p.Ser356Gly) rs56389778
NM_001204831.2(ANO10):c.1385G>A (p.Arg462Gln) rs3772165
NM_001204831.2(ANO10):c.1682C>T (p.Thr561Met) rs17409162
NM_001211.5(BUB1B):c.348T>C (p.Tyr116=) rs28989189
NM_001243473.2(B9D1):c.400+2T>C rs143149764
NM_001243766.1(POMGNT1):c.301G>A (p.Val101Ile) rs150576537
NM_001244008.1(KIF1A):c.173C>T (p.Ser58Leu) rs672601362
NM_001254.4(CDC6):c.1321G>A (p.Val441Ile) rs13706
NM_001254.4(CDC6):c.165C>T (p.Pro55=) rs142289528
NM_001254.4(CDC6):c.438T>C (p.Cys146=) rs1130199
NM_001256006.1(SYT14):c.561_563delAGA (p.Glu187del) rs2307890
NM_001256850.1(TTN):c.101655T>A (p.Ser33885=) rs55838839
NM_001256850.1(TTN):c.13960T>G (p.Cys4654Gly) rs537312655
NM_001256850.1(TTN):c.31792G>C (p.Ala10598Pro) rs72650032
NM_001256850.1(TTN):c.33199_33219del21 (p.Val11067_Glu11073del) rs587780487
NM_001256850.1(TTN):c.34606+10A>C rs397517554
NM_001256850.1(TTN):c.35228_35245del18 (p.Ile11743_Glu11748del) rs139512154
NM_001256850.1(TTN):c.45467G>A (p.Arg15156His) rs200835354
NM_001256850.1(TTN):c.51009T>C (p.Phe17003=) rs755839294
NM_001256850.1(TTN):c.54359A>G (p.Asn18120Ser) rs563969986
NM_001256850.1(TTN):c.54392C>T (p.Pro18131Leu) rs72646840
NM_001256850.1(TTN):c.5697C>T (p.Ile1899=) rs148434577
NM_001256850.1(TTN):c.64207C>T (p.Pro21403Ser) rs55980498
NM_001256850.1(TTN):c.8069C>T (p.Thr2690Ile) rs374620001
NM_001256850.1(TTN):c.81129T>C (p.Thr27043=) rs76928874
NM_001256850.1(TTN):c.9077A>T (p.Asn3026Ile) rs11900987
NM_001256850.1(TTN):c.95249-10dupT rs397517782
NM_001257102.1(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245
NM_001267550.1(TTN):c.33513_33515dup (p.Glu11172_Tyr11173insGlu) rs368327166
NM_001267550.1(TTN):c.45599C>G rs201057307
NM_001267550.2(TTN):c.26762-10_26762-9insTTTGTATTGT rs1553893826
NM_001267550.2(TTN):c.31071C>T (p.His10357=) rs368973334
NM_001267550.2(TTN):c.31806C>T (p.Pro10602=) rs370080995
NM_001267550.2(TTN):c.34612+1G>A rs577363824
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=) rs72648255
NM_001271.3(CHD2):c.1091A>G (p.Asn364Ser) rs143043614
NM_001271.3(CHD2):c.239C>T (p.Pro80Leu) rs186163798
NM_001271.3(CHD2):c.4482C>T (p.Asn1494=) rs565686460
NM_001278064.1(GRM1):c.2793G>A (p.Lys931=) rs2942
NM_001278064.1(GRM1):c.2977T>C (p.Ser993Pro) rs6923492
NM_001278064.1(GRM1):c.3168T>G (p.Gly1056=) rs6923864
NM_001278064.1(GRM1):c.3213T>G (p.Pro1071=) rs1047006
NM_001278064.1(GRM1):c.3495C>A (p.Pro1165=) rs9373491
NM_001281723.2(BTD):c.104_110delGCGGCTGinsTCC (p.Cys35Phefs) rs80338684
NM_001281723.2(BTD):c.1213T>G (p.Phe405Val) rs104893686
NM_001281723.2(BTD):c.218T>C (p.Leu73Pro) rs397514333
NM_001281724.2(BTD):c.1336G>C (p.Asp446His) rs13078881
NM_001281724.2(BTD):c.1374A>C (p.Gln458His) rs80338685
NM_001281725.2(BTD):c.73G>A (p.Gly25Arg) rs34885143
NM_001283009.1(RTEL1):c.1349-9G>A rs772899702
NM_001283009.1(RTEL1):c.3823-5C>G rs141522376
NM_001283009.1(RTEL1):c.973C>T (p.Leu325=) rs142739953
NM_001287174.1(ABCC8):c.2509C>T (p.Arg837Ter) rs72559722
NM_001346813.1(ARID1B):c.1049_1051dup (p.Ala350_Gly351insAla) rs797045267
NM_001346813.1(ARID1B):c.360_362dup (p.Gln131_His132insGln) rs587779743
NM_001346813.1(ARID1B):c.381_386dup (p.Gln131_His132insGlnGln) rs587779744
NM_001346813.1(ARID1B):c.942_944dup (p.Gly319_Ser320insGly) rs587779747
NM_001351297.1(ABCC8):c.1060G>A (p.Ala354Thr) rs145136257
NM_001360.2(DHCR7):c.321+10C>T rs377108406
NM_001360.2(DHCR7):c.70G>T (p.Ala24Ser) rs146867923
NM_001360.2(DHCR7):c.964-1G>C rs138659167
NM_001361.4(DHODH):c.1022C>T (p.Ala341Val) rs61733129
NM_001361.4(DHODH):c.19A>C (p.Lys7Gln) rs3213422
NM_001363.4(DKC1):c.-142C>G rs199422241
NM_001363.4(DKC1):c.1461C>T (p.Ala487=) rs1127051
NM_001363.4(DKC1):c.1512_1514dupGAA (p.Lys505_Ala506insLys) rs782576893
NM_001363.5(DKC1):c.1512_1514delGAA (p.Lys505del) rs782576893
NM_001366110.1(PAX4):c.1014C>T (p.Ala338=) rs201607054
NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp) rs35155575
NM_001366110.1(PAX4):c.313C>T (p.Arg105Cys) rs144792551
NM_001366110.1(PAX4):c.421C>T (p.Arg141Trp) rs2233578
NM_001366110.1(PAX4):c.474C>T (p.Gly158=) rs77039439
NM_001366110.1(PAX4):c.543A>G (p.Gln181=) rs327517
NM_001366110.1(PAX4):c.599G>A (p.Arg200His) rs2233580
NM_001376.4(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622
NM_001376.4(DYNC1H1):c.10548C>T (p.Tyr3516=) rs760532492
NM_001376.4(DYNC1H1):c.10950C>T (p.Asn3650=) rs17541505
NM_001376.4(DYNC1H1):c.11016G>A (p.Ser3672=) rs199679500
NM_001376.4(DYNC1H1):c.11765C>T (p.Pro3922Leu) rs141696238
NM_001376.4(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684
NM_001376.4(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889
NM_001376.4(DYNC1H1):c.12102+6G>A rs377669980
NM_001376.4(DYNC1H1):c.12589G>A (p.Ala4197Thr) rs879254018
NM_001376.4(DYNC1H1):c.13080T>C (p.Thr4360=) rs13749
NM_001376.4(DYNC1H1):c.13219-9C>T rs17541650
NM_001376.4(DYNC1H1):c.13372+4C>T rs17541657
NM_001376.4(DYNC1H1):c.13372+9G>A rs1004903
NM_001376.4(DYNC1H1):c.13440C>T (p.Ser4480=) rs150286673
NM_001376.4(DYNC1H1):c.13719C>T (p.Asn4573=) rs886050377
NM_001376.4(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054
NM_001376.4(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082
NM_001376.4(DYNC1H1):c.2719-6C>T rs199763298
NM_001376.4(DYNC1H1):c.2737G>A (p.Val913Ile) rs372740994
NM_001376.4(DYNC1H1):c.306C>T (p.Asn102=) rs17540624
NM_001376.4(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215
NM_001376.4(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489
NM_001376.4(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957
NM_001376.4(DYNC1H1):c.4395+2C>T rs192594531
NM_001376.4(DYNC1H1):c.4509C>T (p.Ser1503=) rs116089522
NM_001376.4(DYNC1H1):c.4515G>A (p.Ser1505=) rs186932188
NM_001376.4(DYNC1H1):c.46T>C (p.Leu16=) rs2273437
NM_001376.4(DYNC1H1):c.5295A>G (p.Ala1765=) rs139919955
NM_001376.4(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439
NM_001376.4(DYNC1H1):c.5311G>A (p.Gly1771Arg) rs139842853
NM_001376.4(DYNC1H1):c.5985C>T (p.Ala1995=) rs140841480
NM_001376.4(DYNC1H1):c.624G>A (p.Pro208=) rs3818188
NM_001376.4(DYNC1H1):c.6762C>T (p.Ile2254=) rs150603103
NM_001376.4(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439
NM_001376.4(DYNC1H1):c.7192C>T (p.Arg2398Cys) rs141525226
NM_001376.4(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094
NM_001376.4(DYNC1H1):c.7224C>T (p.Ala2408=) rs587780330
NM_001376.4(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720
NM_001376.4(DYNC1H1):c.7403A>T (p.Asn2468Ile) rs797045532
NM_001376.4(DYNC1H1):c.7449C>T (p.Ile2483=) rs17541158
NM_001376.4(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165
NM_001376.4(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179
NM_001376.4(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460
NM_001376.4(DYNC1H1):c.7758C>T (p.Ala2586=) rs145487328
NM_001376.4(DYNC1H1):c.7918G>A (p.Glu2640Lys) rs797045535
NM_001376.4(DYNC1H1):c.8502A>G (p.Gln2834=) rs146220233
NM_001376.4(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870
NM_001376.4(DYNC1H1):c.9138G>T (p.Ser3046=) rs34338935
NM_001396.3(DYRK1A):c.2035G>C (p.Ala679Pro) rs55720916
NM_001396.3(DYRK1A):c.516+9A>G rs187936450
NM_001396.4(DYRK1A):c.831G>A (p.Ala277=) rs138086853
NM_001396.4(DYRK1A):c.845G>A (p.Ser282Asn) rs758888181
NM_001396.4(DYRK1A):c.951+4_951+7delAGTA rs1555984461
NM_001429.3(EP300):c.1168+7G>C rs181755354
NM_001429.3(EP300):c.2064A>G (p.Leu688=) rs61756763
NM_001429.3(EP300):c.2998-12G>A rs115849119
NM_001429.3(EP300):c.3105C>T (p.Thr1035=) rs150498069
NM_001429.3(EP300):c.3426C>T (p.Cys1142=) rs76268515
NM_001429.3(EP300):c.5061+10G>A rs78432056
NM_001429.3(EP300):c.5061+9C>T rs73176628
NM_001429.3(EP300):c.586A>G (p.Ile196Val) rs148693910
NM_001429.3(EP300):c.631G>A (p.Gly211Ser) rs142030651
NM_001429.3(EP300):c.6372C>T (p.Val2124=) rs34985152
NM_001429.3(EP300):c.6636G>A (p.Gln2212=) rs142673005
NM_001429.3(EP300):c.6729C>T (p.Gly2243=) rs765194008
NM_001429.3(EP300):c.865A>G (p.Met289Val) rs2230111
NM_001429.3(EP300):c.942C>T (p.Gly314=) rs20553
NM_001449.4(FHL1):c.156+5C>T rs182106777
NM_001456.3(FLNA):c.1029C>T (p.Ser343=) rs199853721
NM_001456.3(FLNA):c.1239G>A (p.Thr413=) rs200278701
NM_001456.3(FLNA):c.1291G>C (p.Glu431Gln) rs781915319
NM_001456.3(FLNA):c.1579C>T (p.Arg527Cys) rs202029322
NM_001456.3(FLNA):c.1587G>A (p.Lys529=) rs782615607
NM_001456.3(FLNA):c.1691+7C>A rs199565118
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.2023-8C>T rs587780335
NM_001456.3(FLNA):c.2178C>T (p.Asn726=) rs371501734
NM_001456.3(FLNA):c.237G>C (p.Ala79=) rs200626788
NM_001456.3(FLNA):c.2433C>T (p.Ala811=) rs35986650
NM_001456.3(FLNA):c.2613C>T (p.Asp871=) rs188212919
NM_001456.3(FLNA):c.2725G>A (p.Val909Ile) rs199911951
NM_001456.3(FLNA):c.3045G>A (p.Ala1015=) rs370868704
NM_001456.3(FLNA):c.3270C>T (p.Ile1090=) rs79391751
NM_001456.3(FLNA):c.3285C>T (p.Ala1095=) rs199530601
NM_001456.3(FLNA):c.3522C>T (p.Thr1174=) rs373625856
NM_001456.3(FLNA):c.3708C>T (p.Gly1236=) rs200363918
NM_001456.3(FLNA):c.3756G>A (p.Ala1252=) rs186619828
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.4232C>T (p.Ser1411Leu) rs782426283
NM_001456.3(FLNA):c.4233G>A (p.Ser1411=) rs34439033
NM_001456.3(FLNA):c.4737G>C (p.Leu1579=) rs201904661
NM_001456.3(FLNA):c.5227C>T (p.Pro1743Ser) rs56102764
NM_001456.3(FLNA):c.5565C>T (p.Val1855=) rs200787122
NM_001456.3(FLNA):c.5948C>T (p.Ser1983Leu) rs187029309
NM_001456.3(FLNA):c.5999-10C>G rs72616474
NM_001456.3(FLNA):c.6618G>C (p.Val2206=) rs1064822
NM_001456.3(FLNA):c.66C>T (p.Asp22=) rs782358007
NM_001456.3(FLNA):c.7200C>T (p.Gly2400=) rs12008807
NM_001456.3(FLNA):c.7365G>A (p.Ser2455=) rs373103712
NM_001456.3(FLNA):c.861C>T (p.Tyr287=) rs375503410
NM_001458.4(FLNC):c.1374C>T (p.Pro458=) rs115140972
NM_001458.4(FLNC):c.1614C>T (p.Tyr538=) rs76046880
NM_001458.4(FLNC):c.2501C>T (p.Thr834Met) rs75133741
NM_001458.4(FLNC):c.3757G>A (p.Val1253Ile) rs117366477
NM_001458.4(FLNC):c.3838C>T (p.Leu1280=) rs34180031
NM_001458.4(FLNC):c.5592C>T (p.Ala1864=) rs117517372
NM_001458.4(FLNC):c.6771A>G (p.Pro2257=) rs34422412
NM_001458.4(FLNC):c.7780+10A>G rs201149834
NM_001458.4(FLNC):c.8003T>C (p.Met2668Thr) rs200502811
NM_001458.4(FLNC):c.8118C>T (p.Leu2706=) rs28379666
NM_001458.4(FLNC):c.8121T>C (p.Ile2707=) rs28437296
NM_001482.2(GATM):c.1252T>C (p.Leu418=) rs1145086
NM_001482.2(GATM):c.330A>T (p.Gln110His) rs1288775
NM_001493.2(GDI1):c.219T>C (p.Asn73=) rs4834
NM_001493.2(GDI1):c.324C>T (p.Ser108=) rs2230286
NM_001614.3(ACTG1):c.558C>T (p.Thr186=) rs142893042
NM_001614.3(ACTG1):c.654C>T (p.Tyr218=) rs182162229
NM_001614.3(ACTG1):c.714G>A (p.Lys238=) rs11549173
NM_001614.3(ACTG1):c.918C>T (p.Tyr306=) rs1139405
NM_001614.3(ACTG1):c.985-5T>C rs370546734
NM_001614.4(ACTG1):c.414C>T (p.Ala138=) rs143978597
NM_001614.4(ACTG1):c.471C>T (p.Asp157=) rs11549222
NM_001614.4(ACTG1):c.531T>C (p.Arg177=) rs143851458
NM_001614.4(ACTG1):c.684C>T (p.Ala228=) rs143125497
NM_001614.4(ACTG1):c.930C>T (p.Ala310=) rs1135989
NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp) rs281875329
NM_001626.5(AKT2):c.573+9C>T rs3730258
NM_001626.5(AKT2):c.93C>T (p.Ser31=) rs35588791
NM_001626.5(AKT2):c.945G>A (p.Glu315=) rs150000674
NM_001698.2(AUH):c.483A>C (p.Ile161=) rs7874056
NM_001715.2(BLK):c.102C>T (p.Asp34=) rs75383960
NM_001715.2(BLK):c.211G>A (p.Ala71Thr) rs55758736
NM_001715.2(BLK):c.258G>A (p.Gln86=) rs56185487
NM_001715.2(BLK):c.330T>C (p.Ser110=) rs3816668
NM_001715.2(BLK):c.713G>A (p.Arg238Gln) rs141865425
NM_001715.2(BLK):c.843T>C (p.Phe281=) rs2306234
NM_001715.2(BLK):c.974A>C (p.Lys325Thr) rs77401687
NM_001753.4(CAV1):c.156C>T (p.Val52=) rs10029
NM_001754.4(RUNX1):c.183G>A (p.Pro61=) rs76558016
NM_001830.3(CLCN4):c.1758G>A (p.Val586=) rs143437511
NM_001843.3(CNTN1):c.1893T>C (p.His631=) rs2229929
NM_001843.3(CNTN1):c.207C>T (p.Ala69=) rs7297132
NM_001843.3(CNTN1):c.2324G>A (p.Ser775Asn) rs34326474
NM_001843.3(CNTN1):c.2493T>C (p.His831=) rs61754102
NM_001843.3(CNTN1):c.2670A>T (p.Gly890=) rs34346038
NM_001843.3(CNTN1):c.401-9C>T rs57340925
NM_001848.2(COL6A1):c.1443G>A (p.Glu481=) rs80244281
NM_001848.2(COL6A1):c.1612-6C>T rs143812383
NM_001848.2(COL6A1):c.170C>A (p.Ala57Asp) rs143502850
NM_001848.2(COL6A1):c.1814-6C>G rs182804464
NM_001848.2(COL6A1):c.1823-8G>A rs184666690
NM_001848.2(COL6A1):c.1957-5C>T rs78224483
NM_001848.2(COL6A1):c.202C>T (p.Arg68Cys) rs137964147
NM_001848.2(COL6A1):c.2042T>C (p.Ile681Thr) rs138884734
NM_001848.2(COL6A1):c.2061C>A (p.Leu687=) rs8132678
NM_001848.2(COL6A1):c.2424G>T (p.Gln808His) rs140547835
NM_001848.2(COL6A1):c.2441A>G (p.Lys814Arg) rs11553518
NM_001848.2(COL6A1):c.2517C>T (p.Ser839=) rs141463437
NM_001848.2(COL6A1):c.2667G>A (p.Ala889=) rs1053315
NM_001848.2(COL6A1):c.2736C>T (p.Asp912=) rs13879
NM_001848.2(COL6A1):c.2781C>T (p.Tyr927=) rs61735853
NM_001848.2(COL6A1):c.2783G>A (p.Arg928His) rs144671871
NM_001848.2(COL6A1):c.3054C>T (p.His1018=) rs141237809
NM_001848.2(COL6A1):c.347G>A (p.Ser116Asn) rs11553519
NM_001848.2(COL6A1):c.349G>A (p.Val117Met) rs150686304
NM_001848.2(COL6A1):c.350T>C (p.Val117Ala) rs138899581
NM_001848.2(COL6A1):c.645G>A (p.Ala215=) rs115292913
NM_001849.3(COL6A2):c.1552C>T (p.Pro518Ser) rs141166141
NM_001849.3(COL6A2):c.1609-10C>T rs17357592
NM_001849.3(COL6A2):c.1671+10A>G rs915786
NM_001849.3(COL6A2):c.2160C>G (p.Arg720=) rs61735829
NM_001849.3(COL6A2):c.2163G>A (p.Gln721=) rs16978875
NM_001849.3(COL6A2):c.2220T>C (p.Asp740=) rs61735830
NM_001849.3(COL6A2):c.2489G>A (p.Arg830Gln) rs139552940
NM_001849.3(COL6A2):c.2592G>A (p.Thr864=) rs1042930
NM_001849.3(COL6A2):c.2633C>T (p.Ala878Val) rs774521989
NM_001849.3(COL6A2):c.2697G>T (p.Thr899=) rs11554669
NM_001849.3(COL6A2):c.2795C>T (p.Pro932Leu) rs117725825
NM_001849.3(COL6A2):c.2803G>A (p.Gly935Arg) rs35548026
NM_001849.3(COL6A2):c.2979C>T (p.Arg993=) rs6652
NM_001849.3(COL6A2):c.2980G>A (p.Ala994Thr) rs117931394
NM_001849.3(COL6A2):c.2983G>A (p.Ala995Thr) rs35139588
NM_001849.3(COL6A2):c.679G>A (p.Asp227Asn) rs35881321
NM_001849.3(COL6A2):c.714+9C>T rs78822624
NM_001849.3(COL6A2):c.832G>A (p.Glu278Lys) rs61735835
NM_001875.4(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001875.4(CPS1):c.1032C>T (p.Thr344=) rs2229589
NM_001875.4(CPS1):c.2679C>G (p.Gly893=) rs2287599
NM_001875.4(CPS1):c.3626T>C (p.Met1209Thr) rs200569046
NM_001875.4(CPS1):c.4217C>A (p.Thr1406Asn) rs1047891
NM_001885.2(CRYAB):c.116C>T (p.Pro39Leu) rs149787233
NM_001904.3(CTNNB1):c.2340C>T (p.Asp780=) rs2293303
NM_001909.4(CTSD):c.1072-7G>A rs149019571
NM_001909.4(CTSD):c.1215C>A (p.Gly405=) rs138733377
NM_001909.4(CTSD):c.173C>T (p.Ala58Val) rs17571
NM_001909.4(CTSD):c.189C>T (p.Thr63=) rs114051835
NM_001909.4(CTSD):c.231C>T (p.Ala77=) rs2230067
NM_001909.4(CTSD):c.465T>C (p.Thr155=) rs11555039
NM_001909.4(CTSD):c.844G>A (p.Gly282Arg) rs147278302
NM_001918.3(DBT):c.1150G= (p.Gly384=) rs12021720
NM_001918.3(DBT):c.327C>T (p.Thr109=) rs138796800
NM_001918.3(DBT):c.75_76delAT (p.Cys26Trpfs) rs768832921
NM_001927.3(DES):c.1026C>T (p.Asn342=) rs61731508
NM_001927.3(DES):c.1375G>A (p.Val459Ile) rs73991549
NM_001927.3(DES):c.372G>A (p.Glu124=) rs34365369
NM_001927.3(DES):c.408C>T (p.Leu136=) rs111828114
NM_001927.3(DES):c.635G>A (p.Arg212Gln) rs144261171
NM_001927.3(DES):c.792C>T (p.Asp264=) rs150370918
NM_001931.4(DLAT):c.128C>T (p.Ala43Val) rs2303436
NM_001931.4(DLAT):c.1351G>A (p.Asp451Asn) rs10891314
NM_001931.4(DLAT):c.953T>C (p.Val318Ala) rs627441
NM_001953.4(TYMP):c.1412C>T (p.Ser471Leu) rs11479
NM_001953.4(TYMP):c.622G>A (p.Val208Met) rs121913039
NM_001953.4(TYMP):c.972C>T (p.Ala324=) rs131804
NM_001958.3(EEF1A2):c.364G>A (p.Glu122Lys) rs786205866
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.171C>T (p.Ala57=) rs201224981
NM_001972.3(ELANE):c.606C>T (p.Ser202=) rs17216649
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.1466-5C>T rs28763952
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.2161G>A (p.Gly721Ser) rs149733159
NM_001999.3(FBN2):c.2778C>T (p.Ala926=) rs28763948
NM_001999.3(FBN2):c.3015G>A (p.Leu1005=) rs28763946
NM_001999.3(FBN2):c.3690A>G (p.Gly1230=) rs774807410
NM_001999.3(FBN2):c.4098A>C (p.Thr1366=) rs28763943
NM_001999.3(FBN2):c.4141C>A (p.His1381Asn) rs78727187
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.5496C>T (p.Arg1832=) rs35346129
NM_001999.3(FBN2):c.5675-9C>T rs27713
NM_001999.3(FBN2):c.5823T>C (p.His1941=) rs11955288
NM_001999.3(FBN2):c.629-9A>G rs56025995
NM_001999.3(FBN2):c.6551A>T (p.Asn2184Ile) rs149071226
NM_001999.3(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_001999.3(FBN2):c.7013-5T>C rs28763927
NM_001999.3(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926
NM_001999.3(FBN2):c.7205G>A (p.Arg2402His) rs148014419
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.8247A>G (p.Thr2749=) rs116413101
NM_001999.3(FBN2):c.829G>A (p.Val277Ile) rs146849637
NM_001999.3(FBN2):c.8347G>C (p.Glu2783Gln) rs76756898
NM_002017.4(FLI1):c.1009C>T (p.Arg337Trp) rs1064797083
NM_002024.5(FMR1):c.1572C>T (p.Ser524=) rs143889976
NM_002024.5(FMR1):c.414G>A (p.Arg138=) rs25707
NM_002024.5(FMR1):c.433G>T (p.Ala145Ser) rs29281
NM_002025.3(AFF2):c.3404+7A>G rs5980615
NM_002025.3(AFF2):c.496C>T (p.Pro166Ser) rs150996735
NM_002049.3(GATA1):c.113C>T (p.Pro38Leu) rs372131208
NM_002052.4(GATA4):c.1037C>T (p.Ala346Val) rs115372595
NM_002052.4(GATA4):c.822C>T (p.Cys274=) rs55980825
NM_002056.3(GFPT1):c.147T>C (p.Asp49=) rs2230300
NM_002056.3(GFPT1):c.1828G>A (p.Val610Ile) rs190072721
NM_002056.3(GFPT1):c.549T>C (p.Gly183=) rs144566433
NM_002056.3(GFPT1):c.675C>T (p.Leu225=) rs78952091
NM_002156.4(HSPD1):c.273A>G (p.Lys91=) rs8539
NM_002156.4(HSPD1):c.27C>G (p.Arg9=) rs11551349
NM_002156.4(HSPD1):c.69T>C (p.Thr23=) rs1050347
NM_002168.3(IDH2):c.1050C>T (p.Thr350=) rs11540478
NM_002168.3(IDH2):c.419G>A (p.Arg140Gln) rs121913502
NM_002168.3(IDH2):c.673G>A (p.Asp225Asn) rs142816010
NM_002168.3(IDH2):c.996C>T (p.Ser332=) rs61737003
NM_002206.2(ITGA7):c.1617G>T (p.Gln539His) rs61733963
NM_002206.2(ITGA7):c.1965T>C (p.Cys655=) rs7971022
NM_002206.2(ITGA7):c.2146A>C (p.Met716Leu) rs149403824
NM_002206.2(ITGA7):c.2433-5G>A rs79745402
NM_002206.2(ITGA7):c.2701A>G (p.Ile901Val) rs113651939
NM_002206.2(ITGA7):c.285G>T (p.Pro95=) rs17854601
NM_002206.2(ITGA7):c.3018C>G (p.Ser1006=) rs17117883
NM_002206.2(ITGA7):c.3031T>C (p.Leu1011=) rs17117879
NM_002206.2(ITGA7):c.3144G>C (p.Gly1048=) rs62648071
NM_002206.2(ITGA7):c.3384C>T (p.Pro1128=) rs148170949
NM_002206.2(ITGA7):c.415-10C>T rs11171661
NM_002206.2(ITGA7):c.791-7C>T rs144699549
NM_002206.2(ITGA7):c.810G>A (p.Gly270=) rs3847675
NM_002206.2(ITGA7):c.824G>A (p.Arg275His) rs74867235
NM_002206.2(ITGA7):c.882G>A (p.Val294=) rs148190047
NM_002222.5(ITPR1):c.1962G>A (p.Lys654=) rs2306875
NM_002222.5(ITPR1):c.2613A>C (p.Leu871=) rs2306877
NM_002222.5(ITPR1):c.6528A>G (p.Thr2176=) rs13079522
NM_002222.5(ITPR1):c.6865C>T (p.Leu2289=) rs2291862
NM_002222.5(ITPR1):c.731A>G (p.His244Arg) rs1085308010
NM_002222.5(ITPR1):c.7446T>C (p.Thr2482=) rs711631
NM_002222.5(ITPR1):c.7500G>A (p.Lys2500=) rs901854
NM_002241.4(KCNJ10):c.1042C>T (p.Arg348Cys) rs137853074
NM_002241.4(KCNJ10):c.219G>A (p.Ala73=) rs144495959
NM_002241.4(KCNJ10):c.53G>A (p.Arg18Gln) rs115466046
NM_002241.4(KCNJ10):c.615A>G (p.Lys205=) rs142228240
NM_002241.4(KCNJ10):c.735C>G (p.Asp245Glu) rs146426296
NM_002241.4(KCNJ10):c.76C>T (p.Arg26Ter) rs138943405
NM_002241.4(KCNJ10):c.811C>T (p.Arg271Cys) rs1130183
NM_002241.4(KCNJ10):c.812G>A (p.Arg271His) rs3795339
NM_002247.3(KCNMA1):c.1578G>T (p.Leu526=) rs74140280
NM_002247.3(KCNMA1):c.1680C>A (p.Ala560=) rs2229008
NM_002247.3(KCNMA1):c.2015+7G>A rs78670694
NM_002247.3(KCNMA1):c.2217T>C (p.Asp739=) rs77280228
NM_002247.3(KCNMA1):c.2352C>T (p.Val784=) rs41274568
NM_002247.3(KCNMA1):c.2536-8T>C rs78672251
NM_002247.3(KCNMA1):c.2877C>T (p.Asp959=) rs115772068
NM_002247.3(KCNMA1):c.3021C>T (p.Thr1007=) rs45527834
NM_002247.3(KCNMA1):c.34A>G (p.Ser12Gly) rs77602559
NM_002247.3(KCNMA1):c.687C>T (p.Phe229=) rs1131824
NM_002247.3(KCNMA1):c.90C>T (p.His30=) rs75040504
NM_002291.2(LAMB1):c.1422C>G (p.Ser474=) rs780369106
NM_002291.2(LAMB1):c.476C>G (p.Thr159Ser) rs140146478
NM_002312.3(LIG4):c.1704T>C (p.Asp568=) rs1805386
NM_002312.3(LIG4):c.513T>C (p.Leu171=) rs3093764
NM_002351.4(SH2D1A):c.48C>A (p.Gly16=) rs72610640
NM_002354.2(EPCAM):c.267G>C (p.Gln89His) rs146480420
NM_002354.2(EPCAM):c.458G>C (p.Arg153Thr) rs189732445
NM_002397.4(MEF2C):c.585C>T (p.Asn195=) rs398123686
NM_002397.4(MEF2C):c.642C>T (p.Asn214=) rs79455305
NM_002397.4(MEF2C):c.811-12G>A rs149706617
NM_002465.3(MYBPC1):c.556+10C>G rs61935677
NM_002470.3(MYH3):c.2106C>T (p.Gly702=) rs56259391
NM_002470.3(MYH3):c.2151C>A (p.Gly717=) rs876657
NM_002470.3(MYH3):c.2532A>G (p.Ala844=) rs2285469
NM_002470.3(MYH3):c.2610A>G (p.Lys870=) rs56163389
NM_002470.3(MYH3):c.2883C>A (p.Thr961=) rs144338240
NM_002470.3(MYH3):c.2916A>G (p.Thr972=) rs2285472
NM_002470.3(MYH3):c.2952T>C (p.Ser984=) rs2285474
NM_002470.3(MYH3):c.3008C>T (p.Ala1003Val) rs34088014
NM_002470.3(MYH3):c.3009G>A (p.Ala1003=) rs61735353
NM_002470.3(MYH3):c.3138A>C (p.Arg1046=) rs2285475
NM_002470.3(MYH3):c.3348T>C (p.Ile1116=) rs201626
NM_002470.3(MYH3):c.3574G>A (p.Ala1192Thr) rs2285477
NM_002470.3(MYH3):c.3592G>A (p.Ala1198Thr) rs61735358
NM_002470.3(MYH3):c.3726T>C (p.Ser1242=) rs77946261
NM_002470.3(MYH3):c.3938C>T (p.Thr1313Ile) rs35230241
NM_002470.3(MYH3):c.4128C>T (p.Tyr1376=) rs112569418
NM_002470.3(MYH3):c.4155A>G (p.Glu1385=) rs58343499
NM_002470.3(MYH3):c.4731C>T (p.Ile1577=) rs2285479
NM_002470.3(MYH3):c.4910C>T (p.Ala1637Val) rs34165480
NM_002470.3(MYH3):c.5254G>A (p.Ala1752Thr) rs34393601
NM_002470.3(MYH3):c.5457+3G>A rs200954595
NM_002470.3(MYH3):c.699C>T (p.Asn233=) rs16943604
NM_002470.3(MYH3):c.6T>C (p.Ser2=) rs17817203
NM_002470.3(MYH3):c.875C>G (p.Ser292Cys) rs139480342
NM_002472.2(MYH8):c.1209C>A (p.Cys403Ter) rs144321381
NM_002472.2(MYH8):c.1907C>T (p.Ala636Val) rs34693726
NM_002472.2(MYH8):c.2016C>T (p.Phe672=) rs12936716
NM_002472.2(MYH8):c.3117G>A (p.Gly1039=) rs3744553
NM_002472.2(MYH8):c.3254+1G>T rs372740784
NM_002472.2(MYH8):c.3270C>T (p.Ile1090=) rs3744552
NM_002472.2(MYH8):c.3686T>C (p.Met1229Thr) rs35962914
NM_002472.2(MYH8):c.4233C>T (p.Asn1411=) rs138992963
NM_002472.2(MYH8):c.5074T>C (p.Trp1692Arg) rs8069834
NM_002472.2(MYH8):c.5208C>T (p.Asp1736=) rs33969260
NM_002472.2(MYH8):c.5350C>G (p.Arg1784Gly) rs141215006
NM_002472.2(MYH8):c.578G>A (p.Arg193His) rs145863180
NM_002472.2(MYH8):c.714T>C (p.Thr238=) rs8068729
NM_002473.5(MYH9):c.4270G>A (p.Asp1424Asn) rs80338831
NM_002485.4(NBN):c.-2C>A rs202104448
NM_002485.4(NBN):c.1354A>C (p.Thr452Pro) rs141137543
NM_002485.4(NBN):c.1398-10dupT rs587780555
NM_002485.4(NBN):c.1489A>G (p.Thr497Ala) rs3026268
NM_002485.4(NBN):c.156_157delTT (p.Ser53Cysfs) rs767454740
NM_002485.4(NBN):c.1720T>A (p.Leu574Ile) rs142334798
NM_002485.4(NBN):c.1777C>G (p.Pro593Ala) rs146989944
NM_002485.4(NBN):c.1914+10G>A rs577706448
NM_002485.4(NBN):c.1974delA (p.Glu658Aspfs) rs1057516668
NM_002485.4(NBN):c.2071-4A>G rs746994234
NM_002485.4(NBN):c.2146A>G (p.Asn716Asp) rs72563785
NM_002485.4(NBN):c.278C>T (p.Ser93Leu) rs12721593
NM_002485.4(NBN):c.283G>A (p.Asp95Asn) rs61753720
NM_002485.4(NBN):c.381T>C (p.Ala127=) rs61754795
NM_002485.4(NBN):c.425A>G (p.Asn142Ser) rs769414
NM_002485.4(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002485.4(NBN):c.628G>T (p.Val210Phe) rs61754796
NM_002485.4(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002485.4(NBN):c.657_661delACAAA (p.Lys219Asnfs) rs587776650
NM_002485.4(NBN):c.788T>C (p.Phe263Ser) rs147626427
NM_002495.2(NDUFS4):c.198A>C (p.Gly66=) rs31304
NM_002495.3(NDUFS4):c.12G>C (p.Val4=) rs2279516
NM_002495.3(NDUFS4):c.312A>G (p.Arg104=) rs31303
NM_002500.4(NEUROD1):c.590C>A (p.Pro197His) rs8192556
NM_002538.3(OCLN):c.452C>T (p.Ala151Val) rs28562785
NM_002547.2(OPHN1):c.115G>A (p.Val39Ile) rs41303733
NM_002547.2(OPHN1):c.133G>A (p.Ala45Thr) rs148262378
NM_002547.2(OPHN1):c.1830C>T (p.Ser610=) rs368803937
NM_002547.2(OPHN1):c.2029C>A (p.Leu677Met) rs143713841
NM_002547.2(OPHN1):c.2056C>T (p.Pro686Ser) rs139691746
NM_002547.2(OPHN1):c.2079G>A (p.Met693Ile) rs36095561
NM_002547.2(OPHN1):c.702+11A>C rs375325266
NM_002547.2(OPHN1):c.702+29G>A rs3788859
NM_002547.2(OPHN1):c.902C>T (p.Thr301Met) rs138108344
NM_002552.4(ORC4):c.166C>G (p.Leu56Val) rs2307397
NM_002552.4(ORC4):c.233A>G (p.Asn78Ser) rs2307394
NM_002552.4(ORC4):c.521A>G (p.Tyr174Cys) rs387906847
NM_002552.4(ORC4):c.857C>T (p.Ala286Val) rs75002266
NM_002578.4(PAK3):c.1185C>T (p.Leu395=) rs150174049
NM_002578.4(PAK3):c.531G>A (p.Glu177=) rs56270341
NM_002582.3(PARN):c.1102A>T (p.Ser368Cys) rs138984302
NM_002582.3(PARN):c.840+6delT rs531994703
NM_002641.3(PIGA):c.232A>G (p.Lys78Glu) rs776182358
NM_002666.4(PLIN1):c.1139C>T (p.Ala380Val) rs146385147
NM_002666.4(PLIN1):c.812C>T (p.Ala271Val) rs58361219
NM_002691.3(POLD1):c.1977C>T (p.Ile659=) rs45605236
NM_002691.3(POLD1):c.3054G>A (p.Val1018=) rs369613619
NM_002691.3(POLD1):c.378C>T (p.Arg126=) rs145324823
NM_002691.3(POLD1):c.653G>A (p.Arg218His) rs150010804
NM_002691.3(POLD1):c.971-4G>A rs200144991
NM_002693.2(POLG):c.128A>G (p.Gln43Arg) rs28567406
NM_002693.2(POLG):c.150_158dupGCAGCAGCA (p.Gln55_Pro56insGlnGlnGln) rs41550117
NM_002693.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_002693.2(POLG):c.156_158dupGCA (p.Gln55_Pro56insGln) rs41550117
NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_002693.2(POLG):c.1761G>A (p.Pro587=) rs374805003
NM_002693.2(POLG):c.1837C>T (p.His613Tyr) rs147407423
NM_002693.2(POLG):c.1880G>A (p.Arg627Gln) rs375305567
NM_002693.2(POLG):c.2109C>A (p.Ala703=) rs2307429
NM_002693.2(POLG):c.2207A>G (p.Asn736Ser) rs138457939
NM_002693.2(POLG):c.2254C>T (p.Leu752=) rs41564016
NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) rs41549716
NM_002693.2(POLG):c.2606G>A (p.Arg869Gln) rs1356604153
NM_002693.2(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.2(POLG):c.2724C>T (p.Ala908=) rs377390914
NM_002693.2(POLG):c.2958C>T (p.Tyr986=) rs2307431
NM_002693.2(POLG):c.3198G>A (p.Thr1066=) rs61752780
NM_002693.2(POLG):c.3428A>G (p.Glu1143Gly) rs2307441
NM_002693.2(POLG):c.3482+7G>A rs200309191
NM_002693.2(POLG):c.3559C>T (p.Arg1187Trp) rs369544574
NM_002693.2(POLG):c.3561G>C (p.Arg1187=) rs62640037
NM_002693.2(POLG):c.3644-9A>G rs115048121
NM_002693.2(POLG):c.3700C>A (p.Arg1234=) rs144346886
NM_002693.2(POLG):c.3708G>T (p.Gln1236His) rs3087374
NM_002693.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_002693.2(POLG):c.803G>C (p.Gly268Ala) rs61752784
NM_002693.2(POLG):c.948G>A (p.Lys316=) rs61756401
NM_002693.2(POLG):c.970C>A (p.Pro324Thr) rs2307437
NM_002739.4(PRKCG):c.567T>C (p.Asn189=) rs3745406
NM_002739.4(PRKCG):c.72C>T (p.Ala24=) rs2547362
NM_002753.4(MAPK10):c.1111-6C>T rs13103861
NM_002753.4(MAPK10):c.960G>A (p.Ala320=) rs55663953
NM_002764.3(PRPS1):c.447G>A (p.Pro149=) rs80338730
NM_002768.4(CHMP1A):c.210C>T (p.Asp70=) rs114931496
NM_002768.4(CHMP1A):c.382-8G>T rs116634240
NM_002768.4(CHMP1A):c.51G>A (p.Lys17=) rs187184327
NM_002834.4(PTPN11):c.1404G>C (p.Thr468=) rs587781130
NM_002878.3(RAD51D):c.216C>T (p.Tyr72=) rs148690585
NM_002894.2(RBBP8):c.109+6A>G rs149189755
NM_002894.2(RBBP8):c.1367A>G (p.His456Arg) rs139743319
NM_002894.2(RBBP8):c.1644T>C (p.Asp548=) rs34780140
NM_002894.2(RBBP8):c.1902T>C (p.Cys634=) rs201620586
NM_002894.2(RBBP8):c.2115G>A (p.Lys705=) rs17852769
NM_002973.3(ATXN2):c.319C>G (p.Leu107Val) rs695871
NM_002973.3(ATXN2):c.390C>T (p.Arg130=) rs695872
NM_002977.3(SCN9A):c.1119T>C (p.Ala373=) rs13414203
NM_002977.3(SCN9A):c.1155G>T (p.Val385=) rs58465962
NM_002977.3(SCN9A):c.1266A>G (p.Glu422=) rs13402180
NM_002977.3(SCN9A):c.1287T>A (p.Arg429=) rs6747673
NM_002977.3(SCN9A):c.1469G>A (p.Ser490Asn) rs58022607
NM_002977.3(SCN9A):c.174G>A (p.Gln58=) rs6432901
NM_002977.3(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_002977.3(SCN9A):c.2159T>A (p.Ile720Lys) rs200945460
NM_002977.3(SCN9A):c.2215A>G (p.Ile739Val) rs182650126
NM_002977.3(SCN9A):c.2794A>C (p.Met932Leu) rs12478318
NM_002977.3(SCN9A):c.2969A>G (p.Tyr990Cys) rs199692186
NM_002977.3(SCN9A):c.2971G>T (p.Val991Leu) rs4369876
NM_002977.3(SCN9A):c.3162C>T (p.Ser1054=) rs111674454
NM_002977.3(SCN9A):c.3329G>A (p.Arg1110Gln) rs74401238
NM_002977.3(SCN9A):c.3476T>C (p.Ile1159Thr) rs73019664
NM_002977.3(SCN9A):c.3642C>A (p.Ile1214=) rs77144869
NM_002977.3(SCN9A):c.3734A>G (p.Asn1245Ser) rs141268327
NM_002977.3(SCN9A):c.3769-4A>G rs75230218
NM_002977.3(SCN9A):c.3769-8T>C rs76550960
NM_002977.3(SCN9A):c.444A>G (p.Pro148=) rs9646771
NM_002977.3(SCN9A):c.4779G>T (p.Val1593=) rs149207258
NM_002977.3(SCN9A):c.4890T>C (p.Leu1630=) rs199550149
NM_002977.3(SCN9A):c.5723A>G (p.Asp1908Gly) rs3750904
NM_002977.3(SCN9A):c.684C>G (p.Ile228Met) rs71428908
NM_003000.2(SDHB):c.418G>T (p.Val140Phe) rs267607032
NM_003000.2(SDHB):c.487T>C (p.Ser163Pro) rs33927012
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.312C>T (p.His104=) rs61734352
NM_003035.2(STIL):c.1024-4T>C rs188900275
NM_003035.2(STIL):c.1055G>A (p.Arg352His) rs141678367
NM_003035.2(STIL):c.1136C>T (p.Ser379Phe) rs149185431
NM_003035.2(STIL):c.1229C>G (p.Pro410Arg) rs202194355
NM_003035.2(STIL):c.1452C>G (p.Ser484=) rs10789505
NM_003035.2(STIL):c.1455G>C (p.Leu485Phe) rs139912214
NM_003035.2(STIL):c.2017A>G (p.Ser673Gly) rs140448154
NM_003035.2(STIL):c.257C>T (p.Ala86Val) rs3125630
NM_003035.2(STIL):c.2903A>G (p.His968Arg) rs148193936
NM_003035.2(STIL):c.2951A>G (p.His984Arg) rs13376679
NM_003035.2(STIL):c.3375A>G (p.Arg1125=) rs142315727
NM_003035.2(STIL):c.3427G>A (p.Asp1143Asn) rs112563569
NM_003035.2(STIL):c.3434C>T (p.Ala1145Val) rs3766317
NM_003036.3(SKI):c.104C>G (p.Pro35Arg) rs397514589
NM_003051.3(SLC16A1):c.-243dupC rs58047463
NM_003051.3(SLC16A1):c.1414G>A (p.Gly472Arg) rs72552271
NM_003051.3(SLC16A1):c.1470T>A (p.Asp490Glu) rs1049434
NM_003051.3(SLC16A1):c.362-22_362-11delTATTTATTTATT rs149491709
NM_003070.4(SMARCA2):c.1122C>G (p.Thr374=) rs138404604
NM_003070.4(SMARCA2):c.174G>A (p.Pro58=) rs10964470
NM_003070.4(SMARCA2):c.1854C>T (p.Asp618=) rs140464170
NM_003070.4(SMARCA2):c.3672G>A (p.Glu1224=) rs6601
NM_003070.4(SMARCA2):c.4590C>T (p.Ser1530=) rs77070978
NM_003070.4(SMARCA2):c.462G>A (p.Gly154=) rs61736900
NM_003070.4(SMARCA2):c.4638C>G (p.Asp1546Glu) rs2296212
NM_003070.4(SMARCA2):c.4717G>A (p.Asp1573Asn) rs61736899
NM_003070.4(SMARCA2):c.705_707delGCA (p.Gln238del) rs113070757
NM_003070.4(SMARCA2):c.717G>A (p.Pro239=) rs10964525
NM_003079.4(SMARCE1):c.1079G>A (p.Gly360Asp) rs142193069
NM_003079.4(SMARCE1):c.218A>G (p.Tyr73Cys) rs387906857
NM_003108.3(SOX11):c.1051_1062dup (p.Ser354_Gly355insSerGlySerSer) rs751221446
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.3(SPG7):c.1045G>A (p.Gly349Ser) rs141659620
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.3(SPG7):c.1507A>G (p.Thr503Ala) rs2292954
NM_003119.3(SPG7):c.1904C>T (p.Ser635Leu) rs864622507
NM_003119.3(SPG7):c.2063G>A (p.Arg688Gln) rs12960
NM_003119.3(SPG7):c.2228T>C (p.Ile743Thr) rs752623413
NM_003159.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206
NM_003159.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977
NM_003159.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616
NM_003159.2(CDKL5):c.1400A>G (p.His467Arg) rs267608631
NM_003159.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148
NM_003159.2(CDKL5):c.1722G>A (p.Pro574=) rs371603866
NM_003159.2(CDKL5):c.1797C>G (p.Thr599=) rs141478957
NM_003159.2(CDKL5):c.199C>T (p.Leu67Phe) rs267608437
NM_003159.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460
NM_003159.2(CDKL5):c.2413C>T (p.Gln805Ter) rs267608659
NM_003159.2(CDKL5):c.2635_2636delCT (p.Leu879Glufs) rs61753251
NM_003159.2(CDKL5):c.283-13A>G rs587783404
NM_003159.2(CDKL5):c.2927C>T (p.Pro976Leu) rs587783161
NM_003159.2(CDKL5):c.3003C>T (p.His1001=) rs36022183
NM_003159.2(CDKL5):c.3084G>A (p.Thr1028=) rs139155110
NM_003159.2(CDKL5):c.555-19C>G rs75057928
NM_003159.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_003159.2(CDKL5):c.62A>G (p.Glu21Gly) rs587783406
NM_003159.2(CDKL5):c.93A>G (p.Arg31=) rs140332992
NM_003165.3(STXBP1):c.1356C>T (p.Thr452=) rs35099393
NM_003165.3(STXBP1):c.1548-7T>C rs534556046
NM_003165.3(STXBP1):c.1548C>T (p.Ser516=) rs145304925
NM_003165.3(STXBP1):c.1680C>T (p.Asn560=) rs201809337
NM_003165.3(STXBP1):c.1702+10C>T rs147607230
NM_003165.3(STXBP1):c.247-8A>G rs199827018
NM_003165.3(STXBP1):c.250G>A (p.Val84Ile) rs34830702
NM_003165.3(STXBP1):c.325+8C>T rs117372398
NM_003165.3(STXBP1):c.627C>T (p.Leu209=) rs567071026
NM_003165.3(STXBP1):c.6C>A (p.Ala2=) rs144094037
NM_003165.3(STXBP1):c.704G>A (p.Arg235Gln) rs794727970
NM_003165.3(STXBP1):c.846C>T (p.Asp282=) rs58889246
NM_003165.3(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_003165.3(STXBP1):c.903-4C>G rs369625158
NM_003193.4(TBCE):c.1577G>A (p.Arg526Gln) rs140662460
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837
NM_003242.5(TGFBR2):c.1062C>T (p.Leu354=) rs113194608
NM_003282.3(TNNI2):c.354G>A (p.Ser118=) rs141400587
NM_003282.3(TNNI2):c.54G>C (p.Leu18=) rs181679318
NM_003282.3(TNNI2):c.60T>C (p.Ser20=) rs907610
NM_003283.5(TNNT1):c.129-9T>G rs67795913
NM_003283.5(TNNT1):c.33-8G>A rs76630067
NM_003283.5(TNNT1):c.35A>G (p.Glu12Gly) rs112562759
NM_003289.3(TPM2):c.*8G>A rs56249943
NM_003355.2(UCP2):c.164C>T (p.Ala55Val) rs660339
NM_003355.2(UCP2):c.446G>A (p.Arg149Gln) rs371789455
NM_003383.3(VLDLR):c.1643A>G (p.Lys548Arg) rs148487944
NM_003383.4(VLDLR):c.-21_-19dupGGC rs71329437
NM_003383.4(VLDLR):c.1458C>T (p.Ala486=) rs6143
NM_003383.4(VLDLR):c.175G>A (p.Val59Ile) rs6149
NM_003383.4(VLDLR):c.2041C>T (p.Leu681=) rs79720897
NM_003383.4(VLDLR):c.2416+8G>T rs6145
NM_003383.4(VLDLR):c.242A>G (p.Asn81Ser) rs140526335
NM_003383.4(VLDLR):c.24G>A (p.Ala8=) rs34336270
NM_003383.4(VLDLR):c.464G>C (p.Ser155Thr) rs34080096
NM_003383.4(VLDLR):c.468C>T (p.Pro156=) rs2242105
NM_003383.4(VLDLR):c.902G>A (p.Arg301Gln) rs139671268
NM_003383.4(VLDLR):c.982A>G (p.Ser328Gly) rs116306908
NM_003384.2(VRK1):c.1020C>T (p.Asp340=) rs147853760
NM_003384.2(VRK1):c.45A>G (p.Ala15=) rs2145635
NM_003384.2(VRK1):c.705C>T (p.Gly235=) rs2230532
NM_003392.4(WNT5A):c.141-9C>G rs181894008
NM_003467.2(CXCR4):c.783C>T (p.Ile261=) rs148279552
NM_003482.3(KMT2D):c.10192A>G (p.Met3398Val) rs75937132
NM_003482.3(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282
NM_003482.3(KMT2D):c.10671A>G (p.Pro3557=) rs61942218
NM_003482.3(KMT2D):c.10993C>G (p.Pro3665Ala) rs112170602
NM_003482.3(KMT2D):c.11043G>A (p.Gln3681=) rs371444130
NM_003482.3(KMT2D):c.11290C>T (p.Gln3764Ter) rs587783682
NM_003482.3(KMT2D):c.11610G>A (p.Met3870Ile) rs73302195
NM_003482.3(KMT2D):c.12028T>C (p.Ser4010Pro) rs80132640
NM_003482.3(KMT2D):c.12896delG (p.Gly4299Aspfs) rs587783686
NM_003482.3(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011
NM_003482.3(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689
NM_003482.3(KMT2D):c.1329_1332del (p.Pro444Argfs) rs587783689
NM_003482.3(KMT2D):c.13644C>T (p.Ser4548=) rs201119371
NM_003482.3(KMT2D):c.13671+10dupC rs147210845
NM_003482.3(KMT2D):c.13996_13997delAG (p.Arg4666Glyfs) rs587783693
NM_003482.3(KMT2D):c.14080G>C (p.Glu4694Gln) rs587778483
NM_003482.3(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.3(KMT2D):c.15671G>A (p.Arg5224His) rs3782356
NM_003482.3(KMT2D):c.15978T>G (p.Leu5326=) rs55776396
NM_003482.3(KMT2D):c.16489_16491delATC (p.Ile5497del) rs587783704
NM_003482.3(KMT2D):c.1938C>G (p.Pro646=) rs147212187
NM_003482.3(KMT2D):c.2052T>A (p.Pro684=) rs200116899
NM_003482.3(KMT2D):c.2074C>A (p.Pro692Thr) rs202076833
NM_003482.3(KMT2D):c.2232A>C (p.Ser744=) rs200155807
NM_003482.3(KMT2D):c.2283_2309del (p.Ala765_Gln773del) rs375538882
NM_003482.3(KMT2D):c.248G>A (p.Arg83Gln) rs55865069
NM_003482.3(KMT2D):c.2798-7delC rs112620957
NM_003482.3(KMT2D):c.3572C>T (p.Pro1191Leu) rs112236653
NM_003482.3(KMT2D):c.3813A>T (p.Leu1271=) rs201794205
NM_003482.3(KMT2D):c.4020+13C>G rs184377216
NM_003482.3(KMT2D):c.4135_4136delAT (p.Met1379Valfs) rs398123744
NM_003482.3(KMT2D):c.4421G>A (p.Cys1474Tyr) rs587783718
NM_003482.3(KMT2D):c.4986C>T (p.Cys1662=) rs143063879
NM_003482.3(KMT2D):c.5016T>C (p.Pro1672=) rs114731584
NM_003482.3(KMT2D):c.5217C>T (p.Gly1739=) rs111924728
NM_003482.3(KMT2D):c.5868-8C>T rs75783546
NM_003482.3(KMT2D):c.5976G>A (p.Glu1992=) rs77794669
NM_003482.3(KMT2D):c.6573G>A (p.Thr2191=) rs202085637
NM_003482.3(KMT2D):c.6595delT (p.Tyr2199Ilefs) rs398123753
NM_003482.3(KMT2D):c.6733C>G (p.Leu2245Val) rs201931833
NM_003482.3(KMT2D):c.6807C>T (p.Ser2269=) rs73302197
NM_003482.3(KMT2D):c.7035G>A (p.Leu2345=) rs398123756
NM_003482.3(KMT2D):c.7170G>A (p.Pro2390=) rs3741625
NM_003482.3(KMT2D):c.7188T>C (p.Cys2396=) rs111305262
NM_003482.3(KMT2D):c.7198C>G (p.Pro2400Ala) rs35111108
NM_003482.3(KMT2D):c.7670C>T (p.Pro2557Leu) rs189888707
NM_003482.3(KMT2D):c.7705G>A (p.Gly2569Ser) rs201507971
NM_003482.3(KMT2D):c.8047-15C>T rs202244933
NM_003482.3(KMT2D):c.8047-7dupT rs200754433
NM_003482.3(KMT2D):c.8053C>T (p.Arg2685Ter) rs587783727
NM_003482.3(KMT2D):c.8064G>A (p.Glu2688=) rs148457961
NM_003482.3(KMT2D):c.8091C>T (p.Arg2697=) rs116686402
NM_003482.3(KMT2D):c.8171_8175delCCAGC (p.Pro2724Glnfs) rs587783728
NM_003482.3(KMT2D):c.8743C>T (p.Arg2915Ter) rs587783729
NM_003482.3(KMT2D):c.8774C>T (p.Ala2925Val) rs199547661
NM_003494.3(DYSF):c.1284+6G>C rs75796187
NM_003494.3(DYSF):c.1369G>A (p.Glu457Lys) rs61740288
NM_003494.3(DYSF):c.1422C>T (p.Ile474=) rs34387018
NM_003494.3(DYSF):c.1731G>A (p.Ala577=) rs35984374
NM_003494.3(DYSF):c.1827T>C (p.Asp609=) rs2303596