ClinVar Miner

Variants from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics: Collection method of the submission from Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics:
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
1365 695 49 1452 607 41 181 1891

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
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective risk factor other
pathogenic 30 99 47 5 3 0 11 3 1 6
likely pathogenic 37 0 13 1 2 0 1 0 1 0
uncertain significance 35 26 3 157 59 0 0 0 3 0
likely benign 30 13 376 7 981 2 0 1 5 2
benign 26 4 59 336 9 0 0 0 3 5

Submitter to submitter summary #

Total submitters: 145
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
Invitae 0 580 0 606 107 5 27 745
GeneDx 0 732 0 396 100 1 24 521
Illumina Clinical Services Laboratory,Illumina 0 478 0 263 183 0 15 460
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 554 0 347 70 7 12 435
PreventionGenetics 0 235 0 232 24 0 1 257
Genetic Services Laboratory, University of Chicago 0 311 0 169 67 0 2 237
Ambry Genetics 0 278 0 176 42 0 11 229
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 184 0 110 29 0 4 143
Athena Diagnostics Inc 0 143 0 100 13 0 2 115
OMIM 0 163 0 16 15 19 55 103
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 163 0 73 15 0 8 96
Integrated Genetics/Laboratory Corporation of America 0 156 0 71 14 0 8 93
Counsyl 0 126 0 50 7 0 13 70
CeGaT Praxis fuer Humangenetik Tuebingen 0 55 0 8 53 0 8 69
GeneReviews 0 51 30 9 3 0 21 63
Biesecker Lab/Human Development Section,National Institutes of Health 0 28 17 23 17 0 0 57
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 46 0 44 12 0 0 56
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 69 0 23 23 0 5 51
Color 0 46 0 35 5 0 1 41
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 36 0 23 4 0 1 28
Center for Human Genetics, Inc 0 26 0 9 11 0 1 21
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 12 0 6 6 0 7 19
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 38 0 13 4 0 2 19
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 31 0 15 3 0 1 19
Department of Pathology and Laboratory Medicine,Sinai Health System 0 9 0 13 4 0 0 17
SIB Swiss Institute of Bioinformatics 0 12 0 15 1 0 0 16
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 24 0 13 1 0 1 15
Fulgent Genetics 0 173 0 15 0 0 0 15
CSER_CC_NCGL; University of Washington Medical Center 0 21 0 1 9 0 3 13
PharmGKB 0 0 0 0 0 12 0 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 8 0 1 10 0 1 12
Breast Cancer Information Core (BIC) (BRCA2) 0 6 0 4 7 0 0 11
True Health Diagnostics 0 23 0 9 1 1 0 11
Baylor Miraca Genetics Laboratories, 0 23 0 3 4 0 3 10
Sharing Clinical Reports Project (SCRP) 0 6 0 7 3 0 0 10
Quest Diagnostics Nichols Institute San Juan Capistrano 0 33 0 9 1 0 0 10
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 7 0 2 7 0 0 9
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 15 0 7 2 0 0 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 15 0 5 2 0 2 9
Wong Mito Lab, Molecular and Human Genetics,Baylor College of Medicine 0 9 0 6 1 0 2 9
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 4 0 7 2 0 0 9
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 15 0 2 5 0 1 8
Michigan Medical Genetics Laboratories,University of Michigan 0 7 0 6 2 0 0 8
Mendelics 0 21 0 0 6 0 2 8
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 7 0 6 2 0 0 8
Pathway Genomics 0 7 0 7 1 0 0 8
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 1 0 0 4 0 4 8
RettBASE 0 7 0 5 1 0 1 7
ClinGen RASopathy Variant Curation Expert Panel, 0 4 0 7 0 0 0 7
Division of Human Genetics,Children's Hospital of Philadelphia 0 18 0 4 1 0 1 6
Vantari Genetics 0 15 0 5 1 0 0 6
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 8 0 3 2 0 1 6
NIHR Bioresource Rare Diseases,University of Cambridge 0 0 0 2 0 0 4 6
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 0 0 0 0 0 0 6 6
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 16 0 1 3 0 1 5
ARUP Institute,ARUP Laboratories 0 17 0 1 1 0 3 5
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 13 0 3 2 0 0 5
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 12 0 3 2 0 0 5
Blueprint Genetics, 0 7 0 1 2 0 1 4
Institute of Human Genetics,Klinikum rechts der Isar 0 9 0 3 0 0 1 4
UCLA Clinical Genomics Center, UCLA 0 1 0 1 0 0 3 4
GeneKor MSA 0 6 0 2 1 1 0 4
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 3 0 1 2 0 1 4
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 8 0 4 0 0 0 4
Database of Curated Mutations (DoCM) 0 0 0 3 0 0 1 4
Robarts Research Institute,Western University 0 1 0 3 1 0 0 4
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 7 0 3 1 0 0 4
SingHealth Duke-NUS Institute of Precision Medicine 0 2 0 1 2 0 1 4
Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research 0 0 0 1 1 0 1 3
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 3 2 1 0 0 0 3
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 2 1 0 0 3
HudsonAlpha Institute for Biotechnology 0 10 0 2 0 0 1 3
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 2 0 0 3 0 0 3
Phosphorus, Inc. 0 1 0 0 2 0 1 3
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 4 0 1 0 0 2 3
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 5 0 1 1 0 0 2
Claritas Genomics 0 2 0 1 1 0 0 2
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 2 0 1 1 0 0 2
Clinical Biochemistry Laboratory,Health Services Laboratory 0 1 0 1 1 0 0 2
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 2 0 0 0 2
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 1 0 1 1 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 1 0 1 2
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 3 0 1 0 1 0 2
PALB2 database 0 1 0 2 0 0 0 2
Department of Zoology Govt. MVM College 0 0 0 0 0 0 2 2
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 1 1 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
University of Washington Center for Mendelian Genomics,University of Washington 0 0 0 2 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 4 0 0 0 1 1 2
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 0 0 0 0 2 0 0 2
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 0 0 0 0 2 0 0 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 5 0 1 1 0 0 2
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 0 0 0 1 0 0 1 2
Tartaglia Lab, Genetics and Rare Diseases Research Division,Bambino Gesu' Children's Hospital 0 0 0 2 0 0 0 2
Gharavi Laboratory,Columbia University 0 4 0 0 0 0 2 2
University of Washington Department of Laboratory Medicine,University of Washington 0 0 0 1 0 1 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 2 0 1 0 0 0 1
MyeliNeuroGene Lab,McGill University Health Center Research Institute 0 0 0 0 0 0 1 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 0 11 0 0 0 0 1 1
Garg Lab, Nationwide Children's Hospital 0 0 0 0 0 1 0 1
Department of Immunology, Genetics and Pathology, Uppsala University 0 0 0 0 0 0 1 1
Breast Cancer Information Core (BIC) (BRCA1) 0 1 0 0 1 0 0 1
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 0 0 0 0 0 0 1 1
Center for Genetic Medicine Research,Children's National Medical Center 0 1 0 0 1 0 0 1
Department of Medical Genetics,Oslo University Hospital 0 0 0 1 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 2 0 1 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 0 0 0 1 0 0 0 1
Department of Neurology, University Hospital of Strasbourg 0 0 0 0 0 0 1 1
DST/NWU Preclinical Drug Development Platform,North-West University 0 0 0 0 1 0 0 1
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 2 0 0 0 0 1 1
UW Hindbrain Malformation Research Program,University of Washington 0 2 0 0 0 0 1 1
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 1 0 0 0 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
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 0 0 1 0 0 0 1
Center for Human Genetics,University of Leuven 0 0 0 0 0 0 1 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 3949 1 0 1 0 0 0 1
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University 0 0 0 0 1 0 0 1
Leeds Amelogenesis Imperfecta Research Group,Leeds University 0 0 0 0 0 0 1 1
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 0 2 0 0 1 0 0 1
Diagnostic Laboratory,Strasbourg University Hospital 0 2 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 3 0 0 0 0 1 1
Department of Medical Genetics,University Hospital of North Norway 0 0 0 1 0 0 0 1
Weber Lab,Hannover Medical School 0 0 0 0 0 0 1 1
GenePathDx,Causeway Health Care Private Ltd 0 0 0 0 1 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 1 0 0 1
Daryl Scott Lab,Baylor College of Medicine 0 0 0 1 0 0 0 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 2 0 0 1 0 0 1
Yale Center for Mendelian Genomics,Yale University 0 1 0 1 0 0 0 1
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 1 0 1 0 0 0 1
Department of Pathology and Molecular Medicine,Queen's University 0 2 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 1 0 0 0 1
Medical & Molecular Genetics Group,University of Lincoln 0 0 0 0 0 0 1 1
Snyder Lab, Genetics Department,Stanford University 0 0 0 0 0 1 0 1
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 2 0 1 0 0 0 1
Tampere Brain Tumor Research Consortium,University of Tampere 0 0 0 0 0 0 1 1
Center for Precision Medicine,Vanderbilt University Medical Center 0 2 0 0 1 0 0 1
ClinGen PAH Variant Curation Expert Panel, 0 4 0 1 0 0 0 1
Medical Genetics Summaries 0 0 0 0 0 1 0 1
Center of Medical Genetics,Central South University 0 0 0 0 0 1 0 1
3DMed Clinical Laboratory Inc 0 1 0 0 1 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 5 0 1 0 0 0 1
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 0 0 1 0 0 1
ClinGen CDH1 Variant Curation Expert Panel 0 0 0 1 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 1891
Download table as spreadsheet
HGVS dbSNP
NC_012920.1:m.11778G>A rs199476112
NC_012920.1:m.15470T>C rs527236187
NC_012920.1:m.15511T>C rs527236188
NC_012920.1:m.1555A>G rs267606617
NC_012920.1:m.5951A>G rs7340122
NC_012920.1:m.6071T>C rs7340086
NM_000016.5(ACADM):c.1045C>T (p.Arg349Ter) rs148207467
NM_000016.5(ACADM):c.127G>A (p.Glu43Lys) rs147559466
NM_000016.5(ACADM):c.600-18G>A rs370523609
NM_000016.5(ACADM):c.734C>T (p.Ser245Leu) rs121434281
NM_000016.5(ACADM):c.799G>A (p.Gly267Arg) rs121434274
NM_000018.3(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163
NM_000018.3(ACADVL):c.1322G>A (p.Gly441Asp) rs2309689
NM_000018.3(ACADVL):c.194C>T (p.Pro65Leu) rs28934585
NM_000018.3(ACADVL):c.49C>T (p.Leu17Phe) rs2230179
NM_000018.3(ACADVL):c.848T>C (p.Val283Ala) rs113994167
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp) rs1057520088
NM_000026.2(ADSL):c.1342T>C (p.Ser448Pro) rs771121666
NM_000026.3(ADSL):c.440A>T (p.Lys147Met) rs11089991
NM_000030.2(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961
NM_000033.3(ABCD1):c.757C>G (p.Leu253Val) rs150151955
NM_000036.2(AMPD1):c.1029G>T (p.Met343Ile) rs61752478
NM_000036.2(AMPD1):c.433G>A (p.Val145Met) rs61741025
NM_000036.2(AMPD1):c.481-6dupT rs727503806
NM_000038.5(APC):c.2608C>T (p.Pro870Ser) rs33974176
NM_000038.5(APC):c.3386T>C (p.Leu1129Ser) rs143638171
NM_000038.5(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.5(APC):c.7862C>G (p.Ser2621Cys) rs72541816
NM_000044.4(AR):c.231_239del (p.Gln78_Gln80del) rs3032358
NM_000044.4(AR):c.2395C>G (p.Gln799Glu) rs137852591
NM_000046.4(ARSB):c.215T>A (p.Leu72Gln) rs397514441
NM_000046.4(ARSB):c.98C>T (p.Ala33Val) rs201168448
NM_000048.3(ASL):c.1164C>T (p.His388=) rs75300185
NM_000048.3(ASL):c.35G>A (p.Arg12Gln) rs145138923
NM_000048.3(ASL):c.556C>A (p.Arg186=) rs111407265
NM_000050.4(ASS1):c.106-10T>G rs73541957
NM_000050.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640
NM_000050.4(ASS1):c.766G>A (p.Glu256Lys) rs74923032
NM_000051.3(ATM):c.146C>G (p.Ser49Cys) rs1800054
NM_000051.3(ATM):c.1541G>A (p.Gly514Asp) rs2235000
NM_000051.3(ATM):c.1636C>G (p.Leu546Val) rs2227924
NM_000051.3(ATM):c.2614C>T (p.Pro872Ser) rs3218673
NM_000051.3(ATM):c.3118A>G (p.Met1040Val) rs3092857
NM_000051.3(ATM):c.3383A>G (p.Gln1128Arg) rs2229020
NM_000051.3(ATM):c.544G>C (p.Val182Leu) rs3218707
NM_000051.3(ATM):c.6995T>C (p.Leu2332Pro) rs4988111
NM_000053.3(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000053.3(ATP7B):c.2668G>A (p.Val890Met) rs786204718
NM_000053.3(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000053.3(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317
NM_000053.3(ATP7B):c.628A>G (p.Ile210Val) rs61733680
NM_000053.3(ATP7B):c.865C>T (p.Gln289Ter) rs121907999
NM_000054.5(AVPR2):c.740G>A (p.Arg247His) rs149668713
NM_000057.3(BLM):c.410A>G (p.Lys137Arg) rs28384988
NM_000057.3(BLM):c.419A>G (p.Glu140Gly) rs35886055
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.3(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.3(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944
NM_000059.3(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
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.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.3(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940
NM_000059.3(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.3(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331
NM_000059.3(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707
NM_000059.3(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.3(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000059.3(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.3(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000061.2(BTK):c.141+11C>T rs138411530
NM_000061.2(BTK):c.615G>T (p.Glu205Asp) rs35877704
NM_000069.2(CACNA1S):c.1711G>A (p.Val571Ile) rs114191482
NM_000069.2(CACNA1S):c.773G>T (p.Gly258Val) rs35534614
NM_000069.2(CACNA1S):c.895T>C (p.Tyr299His) rs35856559
NM_000070.2(CAPN3):c.1029+3A>G rs28364442
NM_000071.2(CBS):c.*540G>A rs111386779
NM_000071.2(CBS):c.1105C>T (p.Arg369Cys) rs117687681
NM_000071.2(CBS):c.304A>C (p.Lys102Gln) rs34040148
NM_000076.2(CDKN1C):c.-84G>A rs188494894
NM_000081.3(LYST):c.10941-7C>A rs72761794
NM_000081.3(LYST):c.5518T>G (p.Ser1840Ala) rs115330112
NM_000081.3(LYST):c.6122-13delA rs201404906
NM_000081.3(LYST):c.7793T>A (p.Phe2598Tyr) rs34642241
NM_000083.2(CLCN1):c.899G>A (p.Arg300Gln) rs118066140
NM_000083.2(CLCN1):c.937G>A (p.Ala313Thr) rs80356692
NM_000088.3(COL1A1):c.1300-8C>G rs41317361
NM_000088.3(COL1A1):c.1615-4C>A rs41316657
NM_000088.3(COL1A1):c.1984-5C>A rs66592376
NM_000088.3(COL1A1):c.3897C>T (p.Cys1299=) rs34940368
NM_000088.3(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946
NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) rs72667032
NM_000089.3(COL1A2):c.3313G>A (p.Gly1105Ser) rs139851311
NM_000090.3(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.3(COL3A1):c.2607T>A (p.Pro869=) rs376643618
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000091.4(COL4A3):c.4994G>A (p.Cys1665Tyr) rs376550779
NM_000094.3(COL7A1):c.4612C>T (p.Arg1538Cys) rs149711883
NM_000096.3(CP):c.2158C>T (p.Arg720Trp) rs145784949
NM_000096.3(CP):c.2684G>C (p.Gly895Ala) rs139633388
NM_000098.2(CPT2):c.1055T>G (p.Phe352Cys) rs2229291
NM_000098.2(CPT2):c.338C>T (p.Ser113Leu) rs74315294
NM_000098.2(CPT2):c.353A>G (p.Asp118Gly) rs148035648
NM_000098.2(CPT2):c.370C>T (p.Arg124Ter) rs201065226
NM_000100.3(CSTB):c.121G>A (p.Val41Met) rs143153487
NM_000110.3(DPYD):c.1905+1G>A rs3918290
NM_000110.3(DPYD):c.775A>G (p.Lys259Glu) rs45589337
NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924
NM_000113.2(TOR1A):c.613T>A (p.Phe205Ile) rs267607134
NM_000115.4(EDNRB):c.169G>A (p.Gly57Ser) rs1801710
NM_000116.4(TAZ):c.383T>C (p.Phe128Ser) rs146934311
NM_000124.3(ERCC6):c.1337G>A (p.Gly446Asp) rs4253047
NM_000124.3(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000124.3(ERCC6):c.3536delA (p.Tyr1179Leufs) rs786205171
NM_000124.3(ERCC6):c.466C>T (p.Gln156Ter) rs751838040
NM_000130.4(F5):c.1601G= (p.Arg534=) rs6025
NM_000135.2(FANCA):c.1359+10C>T rs34159559
NM_000135.2(FANCA):c.2574C>G (p.Ser858Arg) rs17233141
NM_000135.2(FANCA):c.3348+18A>G rs1800347
NM_000136.2(FANCC):c.1156T>C (p.Ser386Pro) rs41281202
NM_000136.2(FANCC):c.178G>A (p.Val60Ile) rs138629441
NM_000136.2(FANCC):c.416G>A (p.Gly139Glu) rs1800362
NM_000136.2(FANCC):c.535C>T (p.Arg179Ter) rs769039987
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.843+4C>T rs4647506
NM_000136.2(FANCC):c.844-1G>C rs774209201
NM_000138.4(FBN1):c.3294C>T (p.Asp1098=) rs140587
NM_000138.4(FBN1):c.5343G>A (p.Val1781=) rs140649
NM_000138.4(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000141.4(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.4(FGFR2):c.170C>T (p.Ser57Leu) rs56226109
NM_000142.4(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656
NM_000142.4(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104
NM_000147.4(FUCA1):c.7G>C (p.Ala3Pro) rs61996282
NM_000150.2(FUT6):c.945C>A (p.Tyr315Ter) rs145035679
NM_000151.3(G6PC):c.379_380dupTA (p.Tyr128Thrfs) rs80356488
NM_000152.4(GAA):c.-32-13T>G rs386834236
NM_000152.4(GAA):c.1726G>A (p.Gly576Ser) rs1800307
NM_000153.3(GALC):c.1403C>G (p.Thr468Ser) rs34134328
NM_000153.3(GALC):c.195G>C (p.Gly65=) rs886042057
NM_000153.3(GALC):c.349A>G (p.Met117Val) rs145580093
NM_000155.3(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.3(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000155.3(GALT):c.626A>G (p.Tyr209Cys) rs111033744
NM_000155.3(GALT):c.652C>T (p.Leu218=) rs2070075
NM_000155.3(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000156.5(GAMT):c.79T>C (p.Tyr27His) rs200833152
NM_000157.3(GBA):c.1223C>T (p.Thr408Met) rs75548401
NM_000158.3(GBE1):c.176T>C (p.Ile59Thr) rs28763904
NM_000158.3(GBE1):c.2017G>A (p.Ala673Thr) rs193074572
NM_000159.3(GCDH):c.1093G>A (p.Glu365Lys) rs121434370
NM_000159.3(GCDH):c.1198G>A (p.Val400Met) rs121434372
NM_000161.2(GCH1):c.68C>T (p.Pro23Leu) rs41298432
NM_000162.3(GCK):c.645C>T (p.Tyr215=) rs144723656
NM_000162.4(GCK):c.31G>A (p.Ala11Thr) rs116093166
NM_000165.5(GJA1):c.716G>A (p.Arg239Gln) rs764670582
NM_000168.5(GLI3):c.1357-17C>G rs190600888
NM_000168.5(GLI3):c.1393G>C (p.Gly465Arg) rs35488756
NM_000168.5(GLI3):c.2165A>G (p.Asn722Ser) rs146130351
NM_000168.5(GLI3):c.2179G>A (p.Gly727Arg) rs121917710
NM_000168.5(GLI3):c.2424A>G (p.Ile808Met) rs62622373
NM_000168.5(GLI3):c.2635G>A (p.Ala879Thr) rs137939155
NM_000168.5(GLI3):c.341G>A (p.Arg114Lys) rs146458902
NM_000168.5(GLI3):c.3598C>G (p.His1200Asp) rs145069572
NM_000168.5(GLI3):c.444C>T (p.Tyr148=) rs142241970
NM_000169.2(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000170.2(GLDC):c.2053-5C>G rs140877566
NM_000170.2(GLDC):c.2203G>T (p.Val735Leu) rs143119940
NM_000170.2(GLDC):c.2380G>A (p.Ala794Thr) rs141933811
NM_000170.2(GLDC):c.2919+3A>G rs73639325
NM_000179.2(MSH6):c.3259C>T (p.Pro1087Ser) rs63750998
NM_000182.4(HADHA):c.1072C>A (p.Gln358Lys) rs2229420
NM_000192.3(TBX5):c.316A>G (p.Ile106Val) rs147710408
NM_000192.3(TBX5):c.331G>T (p.Asp111Tyr) rs77357563
NM_000192.3(TBX5):c.787G>A (p.Val263Met) rs147405081
NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp) rs119481077
NM_000199.3(SGSH):c.675C>G (p.Phe225Leu) rs34520362
NM_000203.4(IDUA):c.1225G>C (p.Gly409Arg) rs11934801
NM_000203.4(IDUA):c.235G>A (p.Ala79Thr) rs58037052
NM_000208.3(INSR):c.3034G>A (p.Val1012Met) rs1799816
NM_000211.4(ITGB2):c.1888G>A (p.Glu630Lys) rs2230531
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196
NM_000215.3(JAK3):c.452C>G (p.Pro151Arg) rs55778349
NM_000218.2(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.2(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500
NM_000220.4(KCNJ1):c.256A>G (p.Thr86Ala) rs41302407
NM_000222.2(KIT):c.532G>A (p.Ala178Thr) rs115585711
NM_000243.2(MEFV):c.*9C>T rs11466048
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000243.2(MEFV):c.2080A>G (p.Met694Val) rs61752717
NM_000243.2(MEFV):c.2082G>A (p.Met694Ile) rs28940578
NM_000243.2(MEFV):c.2177T>C (p.Val726Ala) rs28940579
NM_000245.3(MET):c.2908C>T (p.Arg970Cys) rs34589476
NM_000251.2(MSH2):c.23C>T (p.Thr8Met) rs17217716
NM_000255.3(MMUT):c.205A>G (p.Ile69Val) rs115923556
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766
NM_000257.3(MYH7):c.728G>A (p.Arg243His) rs267606910
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831
NM_000260.3(MYO7A):c.5215C>A (p.Arg1739=) rs111033477
NM_000260.3(MYO7A):c.5324T>C (p.Ile1775Thr) rs115123584
NM_000260.3(MYO7A):c.6214G>A (p.Val2072Ile) rs200313391
NM_000260.3(MYO7A):c.6640G>A (p.Gly2214Ser) rs111033231
NM_000261.1(MYOC):c.1193A>G (p.Lys398Arg) rs56314834
NM_000263.3(NAGLU):c.421T>A (p.Ser141Thr) rs61737294
NM_000264.3(PTCH1):c.2183C>T (p.Thr728Met) rs115556836
NM_000264.4(PTCH1):c.113G>T (p.Gly38Val) rs143494325
NM_000264.4(PTCH1):c.1216-6C>A rs186008764
NM_000264.4(PTCH1):c.2678G>A (p.Arg893His) rs138154222
NM_000264.4(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584
NM_000264.4(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405
NM_000267.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954
NM_000267.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_000267.3(NF1):c.6719A>G (p.His2240Arg) rs201336602
NM_000271.4(NPC1):c.1232G>A (p.Arg411Gln) rs77080672
NM_000271.4(NPC1):c.665A>G (p.Asn222Ser) rs55680026
NM_000272.3(NPHP1):c.689C>T (p.Ala230Val) rs113450177
NM_000276.3(OCRL):c.41C>T (p.Thr14Ile) rs61752970
NM_000277.1(PAH):c.1033G>T (p.Ala345Ser) rs62516062
NM_000277.3(PAH):c.707-7A>T rs62508624
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849
NM_000282.3(PCCA):c.1071G>T (p.Glu357Asp) rs761295534
NM_000282.3(PCCA):c.1745C>T (p.Ser582Leu) rs16957356
NM_000282.3(PCCA):c.231+15C>T rs202049874
NM_000283.3(PDE6B):c.145G>T (p.Asp49Tyr) rs79826315
NM_000284.3(PDHA1):c.844A>C (p.Met282Leu) rs2229137
NM_000284.3(PDHA1):c.97G>C (p.Asp33His) rs150318528
NM_000286.2(PEX12):c.102A>T (p.Arg34Ser) rs147530802
NM_000287.3(PEX6):c.1646C>T (p.Ala549Val) rs115960224
NM_000287.3(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000287.3(PEX6):c.2936C>T (p.Ala979Val) rs115180949
NM_000288.3(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000293.2(PHKB):c.500A>G (p.Tyr167Cys) rs151155518
NM_000297.3(PKD2):c.2420G>A (p.Arg807Gln) rs147654263
NM_000303.2(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.2(PMM2):c.442G>A (p.Asp148Asn) rs148032587
NM_000303.2(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000303.2(PMM2):c.722G>C (p.Cys241Ser) rs80338709
NM_000304.2(PMP22):c.245T>C (p.Leu82Pro) rs878853113
NM_000304.3(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000310.3(PPT1):c.627+4A>G rs572153728
NM_000310.3(PPT1):c.727-2A>T rs386833664
NM_000310.3(PPT1):c.904A>G (p.Ile302Val) rs146902902
NM_000313.3(PROS1):c.234+5G>A rs187264712
NM_000314.4(PTEN):c.254-1G>A rs1057520208
NM_000318.2(PEX2):c.209A>G (p.Tyr70Cys) rs35689779
NM_000318.2(PEX2):c.748T>C (p.Trp250Arg) rs142645936
NM_000321.2(RB1):c.1216-29A>G rs3092886
NM_000328.2(RPGR):c.905G>C (p.Cys302Ser) rs62640590
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952
NM_000339.2(SLC12A3):c.1539C>T (p.Tyr513=) rs146805986
NM_000350.2(ABCA4):c.3899G>A (p.Arg1300Gln) rs61750129
NM_000352.4(ABCC8):c.3640C>T (p.Arg1214Trp) rs139964066
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs) rs778381859
NM_000359.2(TGM1):c.1559A>G (p.Glu520Gly) rs142404759
NM_000359.2(TGM1):c.872G>A (p.Gly291Asp) rs780990272
NM_000363.4(TNNI3):c.244C>T (p.Pro82Ser) rs77615401
NM_000364.3(TNNT2):c.853C>T (p.Arg285Cys) rs121964857
NM_000368.4(TSC1):c.1208C>T (p.Ser403Leu) rs118203504
NM_000368.4(TSC1):c.1589G>C (p.Ser530Thr) rs368481360
NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000377.2(WAS):c.1378C>T (p.Pro460Ser) rs143885622
NM_000377.2(WAS):c.391G>A (p.Glu131Lys) rs146220228
NM_000377.2(WAS):c.538C>A (p.His180Asn) rs145040665
NM_000377.2(WAS):c.995T>C (p.Val332Ala) rs2737799
NM_000383.3(AIRE):c.1411C>T (p.Arg471Cys) rs74203920
NM_000383.3(AIRE):c.497C>T (p.Pro166Leu) rs11910214
NM_000384.2(APOB):c.10294C>G (p.Gln3432Glu) rs1042023
NM_000384.2(APOB):c.12697T>A (p.Ser4233Thr) rs61743299
NM_000384.2(APOB):c.606A>T (p.Glu202Asp) rs61746672
NM_000384.2(APOB):c.7285T>A (p.Ser2429Thr) rs72653092
NM_000384.2(APOB):c.7367C>A (p.Ala2456Asp) rs12713675
NM_000384.2(APOB):c.9880T>C (p.Ser3294Pro) rs12720855
NM_000387.5(SLC25A20):c.773G>A (p.Arg258Gln) rs35989076
NM_000388.3(CASR):c.748G>A (p.Glu250Lys) rs62269092
NM_000391.3(TPP1):c.1266+5G>A rs1800753
NM_000391.3(TPP1):c.299A>G (p.Gln100Arg) rs1800746
NM_000391.3(TPP1):c.509-1G>C rs56144125
NM_000393.3(COL5A2):c.1301C>T (p.Thr434Met) rs145850743
NM_000397.3(CYBB):c.1551T>A (p.Asp517Glu) rs151344452
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000411.6(HLCS):c.1528G>A (p.Gly510Arg) rs75867009
NM_000411.7(HLCS):c.1921G>A (p.Val641Met) rs150665851
NM_000414.3(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000414.3(HSD17B4):c.875C>G (p.Thr292Ser) rs1143650
NM_000419.4(ITGA2B):c.1545-8C>A rs41361752
NM_000420.2(KEL):c.1790T>C (p.Leu597Pro) rs8176038
NM_000425.4(L1CAM):c.2302G>A (p.Val768Ile) rs36021462
NM_000426.3(LAMA2):c.1634T>A (p.Leu545Gln) rs118083923
NM_000426.3(LAMA2):c.2476C>T (p.Arg826Trp) rs118147866
NM_000426.3(LAMA2):c.3296A>G (p.Asn1099Ser) rs35065563
NM_000426.3(LAMA2):c.4437-5T>A rs41285288
NM_000426.3(LAMA2):c.5530C>A (p.Arg1844Ser) rs56173620
NM_000426.3(LAMA2):c.5909G>C (p.Cys1970Ser) rs148451013
NM_000426.3(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053
NM_000426.3(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843
NM_000426.3(LAMA2):c.74C>T (p.Pro25Leu) rs145310035
NM_000426.3(LAMA2):c.8528A>G (p.Asn2843Ser) rs73599293
NM_000426.3(LAMA2):c.922G>A (p.Glu308Lys) rs146462599
NM_000431.3(MVK):c.769-7T>G rs104895331
NM_000435.2(NOTCH3):c.5854G>A (p.Val1952Met) rs115582213
NM_000441.1(SLC26A4):c.1002-9A>C rs10234822
NM_000441.1(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457
NM_000441.1(SLC26A4):c.416-16G>T rs114992866
NM_000443.3(ABCB4):c.523A>G (p.Thr175Ala) rs58238559
NM_000445.4(PLEC):c.10042G>A (p.Gly3348Arg) rs34132016
NM_000445.4(PLEC):c.12752C>G (p.Ala4251Gly) rs368212208
NM_000445.4(PLEC):c.4679G>A (p.Arg1560Gln) rs201430180
NM_000445.4(PLEC):c.5557C>T (p.Arg1853Trp) rs200575795
NM_000445.4(PLEC):c.5558G>A (p.Arg1853Gln) rs147838690
NM_000445.4(PLEC):c.8093G>A (p.Arg2698Gln) rs28526657
NM_000448.2(RAG1):c.906C>A (p.Asp302Glu) rs4151030
NM_000453.2(SLC5A5):c.1507G>A (p.Asp503Asn) rs73520745
NM_000466.2(PEX1):c.1142C>A (p.Ala381Asp) rs73404416
NM_000478.4(ALPL):c.346G>A (p.Ala116Thr) rs121918013
NM_000478.4(ALPL):c.571G>A (p.Glu191Lys) rs121918007
NM_000478.5(ALPL):c.1001G>A (p.Gly334Asp) rs121918009
NM_000478.5(ALPL):c.1381G>A (p.Val461Ile) rs34810399
NM_000478.5(ALPL):c.455G>A (p.Arg152His) rs149344982
NM_000480.2(AMPD3):c.958G>T (p.Val320Leu) rs117706710
NM_000481.3(AMT):c.1145G>A (p.Arg382Gln) rs141246107
NM_000481.3(AMT):c.898A>G (p.Met300Val) rs144971200
NM_000487.5(ARSA):c.*96A>G rs6151429
NM_000487.5(ARSA):c.1055A>G (p.Asn352Ser) rs2071421
NM_000487.5(ARSA):c.465+1G>A rs80338815
NM_000489.4(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000492.3(CFTR):c.1040G>A (p.Arg347His) rs77932196
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.3(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000492.3(CFTR):c.1312A>G (p.Thr438Ala) rs201434579
NM_000492.3(CFTR):c.1327_1330dupGATA (p.Ile444Argfs) rs397508189
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.3(CFTR):c.1624G>T (p.Gly542Ter) rs113993959
NM_000492.3(CFTR):c.164+28A>G rs34010645
NM_000492.3(CFTR):c.1651G>A (p.Gly551Ser) rs121909013
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.3(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.3(CFTR):c.2252G>T (p.Arg751Leu) rs397508357
NM_000492.3(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642
NM_000492.3(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112
NM_000492.3(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.3(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.3(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000495.4(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891
NM_000497.3(CYP11B1):c.1331G>A (p.Gly444Asp) rs779103938
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu) rs184649564
NM_000501.3(ELN):c.1828G>A (p.Gly610Ser) rs140425210
NM_000501.3(ELN):c.2077C>T (p.Pro693Ser) rs369804770
NM_000503.5(EYA1):c.1460C>T (p.Ser487Leu) rs139717960
NM_000515.4(GH1):c.406G>A (p.Val136Ile) rs5388
NM_000518.4(HBB):c.126_129delCTTT (p.Phe42fs) rs80356821
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000520.5(HEXA):c.1195A>G (p.Asn399Asp) rs1800430
NM_000521.3(HEXB):c.1258A>G (p.Ile420Val) rs77499935
NM_000521.3(HEXB):c.214C>T (p.Leu72Phe) rs147155126
NM_000528.3(MAN2B1):c.2006C>T (p.Pro669Leu) rs75029862
NM_000528.3(MAN2B1):c.2221G>A (p.Gly741Arg) rs61234887
NM_000528.3(MAN2B1):c.2267+8dupG rs572289342
NM_000529.2(MC2R):c.833T>G (p.Phe278Cys) rs28926182
NM_000532.4(PCCB):c.49C>A (p.Leu17Met) rs200185747
NM_000533.4(PLP1):c.-31C>T rs2233695
NM_000535.6(PMS2):c.1532C>T (p.Thr511Met) rs74902811
NM_000535.6(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000535.6(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000540.2(RYR1):c.11941C>T (p.His3981Tyr) rs148772854
NM_000540.2(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023
NM_000540.2(RYR1):c.14581C>T (p.Arg4861Cys) rs118192181
NM_000540.2(RYR1):c.2122G>A (p.Asp708Asn) rs138874610
NM_000540.2(RYR1):c.271-7C>G rs192495718
NM_000540.2(RYR1):c.4088C>T (p.Ala1363Val) rs774603798
NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390
NM_000540.2(RYR1):c.6721C>T rs200563280
NM_000540.2(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895
NM_000541.4(SAG):c.301G>A (p.Ala101Thr) rs141521563
NM_000543.4(SMPD1):c.1460C>T (p.Ala487Val) rs141641266
NM_000543.4(SMPD1):c.1598C>T (p.Pro533Leu) rs199915216
NM_000543.4(SMPD1):c.1763C>T (p.Thr588Met) rs35785620
NM_000543.4(SMPD1):c.559C>T (p.Pro187Ser) rs74053349
NM_000543.4(SMPD1):c.887G>A (p.Arg296Gln) rs35824453
NM_000544.3(TAP2):c.44T>C (p.Val15Ala) rs55827768
NM_000548.3(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_000548.3(TSC2):c.1839+6G>A rs45517204
NM_000548.3(TSC2):c.3797dupT (p.Pro1267Alafs) rs796053505
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.3(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000548.4(TSC2):c.1281C>A (p.Ile427=) rs45478892
NM_000548.4(TSC2):c.1747G>A (p.Ala583Thr) rs1800729
NM_000548.4(TSC2):c.2476C>A (p.Leu826Met) rs45517238
NM_000548.4(TSC2):c.2545+26G>A rs45517242
NM_000548.4(TSC2):c.3397+15C>T rs202246408
NM_000548.4(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320
NM_000548.4(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000548.4(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923
NM_000548.4(TSC2):c.4569+12C>T rs45517350
NM_000548.4(TSC2):c.5321G>C (p.Ser1774Thr) rs9209
NM_000548.4(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419
NM_000551.3(VHL):c.340+5G>C rs61758376
NM_000551.3(VHL):c.74C>T (p.Pro25Leu) rs35460768
NM_000552.4(VWF):c.2451T>A (p.His817Gln) rs57950734
NM_000554.4(CRX):c.365G>A (p.Gly122Asp) rs61748441
NM_000642.2(AGL):c.1481G>A (p.Arg494His) rs141043166
NM_000642.2(AGL):c.4430C>G (p.Thr1477Ser) rs78348923
NM_000687.3(AHCY):c.428A>G (p.Tyr143Cys) rs121918608
NM_000693.3(ALDH1A3):c.43A>G (p.Arg15Gly) rs1130737
NM_000702.3(ATP1A2):c.25T>A (p.Tyr9Asn) rs55858252
NM_000702.3(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766
NM_000709.3(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870
NM_000709.3(BCKDHA):c.484+5G>A rs149899007
NM_000709.3(BCKDHA):c.853G>C (p.Ala285Pro) rs398123508
NM_000719.6(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586
NM_000720.3(CACNA1D):c.5827_5829del (p.Phe1943del) rs72556363
NM_000742.3(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740
NM_000744.6(CHRNA4):c.1352C>T (p.Pro451Leu) rs55915440
NM_000747.2(CHRNB1):c.1045-6C>G rs79209506
NM_000748.2(CHRNB2):c.1191G>C (p.Gln397His) rs55685423
NM_000748.2(CHRNB2):c.1432T>C (p.Phe478Leu) rs79137415
NM_000751.2(CHRND):c.243C>T (p.His81=) rs115841867
NM_000751.2(CHRND):c.862C>G (p.Gln288Glu) rs41265127
NM_000789.3(ACE):c.1522C>T (p.Arg508Ter) rs367797185
NM_000790.3(DDC):c.629C>T (p.Pro210Leu) rs6262
NM_000814.5(GABRB3):c.682+20A>G rs75015217
NM_000828.4(GRIA3):c.397G>A (p.Ala133Thr) rs151086692
NM_000833.4(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465
NM_000833.4(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995
NM_000833.4(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086
NM_000834.3(GRIN2B):c.3993G>A (p.Met1331Ile) rs200035225
NM_000920.3(PC):c.1185+5_1185+8delGCGG rs748620956
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys) rs11540832
NM_001001937.1(ATP5F1A):c.25G>A (p.Ala9Thr) rs141639003
NM_001003800.1(BICD2):c.269A>G (p.Lys90Arg) rs61754130
NM_001003841.2(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346
NM_001004127.2(ALG11):c.173A>T (p.Asn58Ile) rs150818619
NM_001005207.3(TRIM37):c.398C>T (p.Ala133Val) rs61758100
NM_001005360.2(DNM2):c.235+6A>G rs113192269
NM_001005360.2(DNM2):c.236-8C>G rs143084059
NM_001008537.2(NEXMIF):c.151C>A (p.Pro51Thr) rs145018752
NM_001008537.2(NEXMIF):c.4246C>T (p.Pro1416Ser) rs143577015
NM_001012331.1(NTRK1):c.2321G>A (p.Arg774Gln) rs35669708
NM_001012331.1(NTRK1):c.710C>T (p.Thr237Met) rs55909005
NM_001017420.2(ESCO2):c.764T>C (p.Phe255Ser) rs141631911
NM_001017995.2(SH3PXD2B):c.1062+15G>A rs111572530
NM_001017995.2(SH3PXD2B):c.1543G>A (p.Asp515Asn) rs62621449
NM_001017995.2(SH3PXD2B):c.1624_1629delGAGCGG (p.Glu542_Arg543del) rs534091900
NM_001018113.2(FANCB):c.1658C>T (p.Thr553Met) rs146157131
NM_001018113.2(FANCB):c.1769T>C (p.Phe590Ser) rs142959373
NM_001018115.2(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247
NM_001018115.2(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204
NM_001024630.3(RUNX2):c.1531G>A (p.Gly511Ser) rs11498198
NM_001024630.4(RUNX2):c.254C>T (p.Ala85Val) rs372138746
NM_001029883.2(PCARE):c.2063G>A (p.Cys688Tyr) rs149601594
NM_001029883.2(PCARE):c.3739G>A (p.Gly1247Ser) rs187333111
NM_001031737.2(CCDC78):c.492+1G>A rs138669350
NM_001031835.2(PHKB):c.534G>T (p.Met178Ile) rs56257827
NM_001033855.2(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018
NM_001035.2(RYR2):c.14809-15C>G rs790897
NM_001035.2(RYR2):c.3407C>T (p.Ala1136Val) rs72549415
NM_001036.4(RYR3):c.6125A>G (p.Asn2042Ser) rs116926961
NM_001037.4(SCN1B):c.448+193G>A rs66876876
NM_001039.3(SCNN1G):c.547G>A (p.Gly183Ser) rs5736
NM_001039141.2(TRIOBP):c.4031G>A (p.Arg1344Gln) rs34066624
NM_001039958.1(MESP2):c.547_582del36 (p.Gln194_Gly205del) rs749710849
NM_001040436.2(YARS2):c.104C>A (p.Ala35Asp) rs149447502
NM_001040616.2(LINS1):c.1813A>G (p.Met605Val) rs141855950
NM_001042432.1(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_001042432.1(CLN3):c.418G>A (p.Val140Ile) rs373034150
NM_001042492.2(NF1):c.3867C>T (p.Phe1289=) rs138186428
NM_001042492.2(NF1):c.5235G>A (p.Lys1745=) rs17887014
NM_001042492.2(NF1):c.846G>A (p.Gln282=) rs138840528
NM_001042537.1(SLC9A6):c.1703G>A (p.Arg568Gln) rs146263125
NM_001042537.1(SLC9A6):c.25G>T (p.Ala9Ser) rs201523857
NM_001059.2(TACR3):c.857A>G (p.Lys286Arg) rs2276973
NM_001077350.2(NPRL3):c.1486G>A (p.Ala496Thr) rs58036849
NM_001077416.2(TMEM231):c.153G>A (p.Pro51=) rs202215735
NM_001077416.2(TMEM231):c.191C>T (p.Ser64Phe) rs377440297
NM_001079515.2(TBCE):c.100+48_100+65del rs10524346
NM_001079802.1(FKTN):c.642dupT (p.Asp215Terfs) rs398123557
NM_001079812.2(DIAPH1):c.1821_1826dup (p.Pro611_Leu612insProPro) rs3075570
NM_001080.3(ALDH5A1):c.130C>G (p.Leu44Val) rs185042766
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn) rs144177566
NM_001080.3(ALDH5A1):c.803G>A (p.Gly268Glu) rs375628463
NM_001080.3(ALDH5A1):c.886G>A (p.Ala296Thr) rs149482918
NM_001080.3(ALDH5A1):c.961G>A (p.Val321Met) rs115784602
NM_001080116.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338
NM_001080116.1(LDB3):c.611A>G (p.Lys204Arg) rs34423165
NM_001080463.1(DYNC2H1):c.7319C>T (p.Thr2440Met) rs146569005
NM_001080463.1(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027
NM_001080476.2(GRXCR1):c.272G>T (p.Gly91Val) rs113203706
NM_001080510.4(METTL23):c.569T>C (p.Leu190Pro) rs147321492
NM_001080522.2(CC2D2A):c.100C>T (p.Arg34Ter) rs896947430
NM_001080522.2(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937
NM_001080522.2(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001080522.2(CC2D2A):c.2813T>C (p.Met938Thr) rs61740537
NM_001080522.2(CC2D2A):c.351T>G (p.Ser117Arg) rs186264635
NM_001082538.2(TCTN1):c.1234A>G (p.Ile412Val) rs75714509
NM_001082538.2(TCTN1):c.220+12G>C rs76843552
NM_001082538.2(TCTN1):c.473-6_473-4delAAA rs10577377
NM_001083116.1(PRF1):c.272C>T (p.Ala91Val) rs35947132
NM_001083116.2(PRF1):c.11G>A (p.Arg4His) rs35418374
NM_001083614.1(EARS2):c.1412A>C (p.Lys471Thr) rs137973249
NM_001083614.1(EARS2):c.16A>G (p.Arg6Gly) rs113722817
NM_001083614.1(EARS2):c.322C>T (p.Arg108Trp) rs376103091
NM_001083961.1(WDR62):c.142C>T (p.Leu48Phe) rs62109744
NM_001083961.1(WDR62):c.1641G>T (p.Thr547=) rs2301734
NM_001083961.1(WDR62):c.2666T>C (p.Met889Thr) rs139749569
NM_001083961.1(WDR62):c.3946C>G (p.Gln1316Glu) rs35811023
NM_001083961.1(WDR62):c.866A>G (p.Lys289Arg) rs12327568
NM_001083962.1(TCF4):c.1487-5G>A rs749176054
NM_001083962.1(TCF4):c.944C>T (p.Ala315Val) rs147445499
NM_001084.4(PLOD3):c.1144G>C (p.Asp382His) rs41281013
NM_001085372.2(UQCC3):c.226T>G (p.Trp76Gly) rs143509965
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682
NM_001101.4(ACTB):c.363+16C>T rs73332405
NM_001103.3(ACTN2):c.1810A>G (p.Met604Val) rs35997569
NM_001110556.1(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204
NM_001110556.1(FLNA):c.5290G>A (p.Ala1764Thr) rs57108893
NM_001110792.1(MECP2):c.1A>T (p.Met1Leu) rs587783132
NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys) rs17843865
NM_001111035.2(ACP5):c.814C>T (p.Arg272Cys) rs147025508
NM_001113378.1(FANCI):c.1211T>C (p.Ile404Thr) rs79080874
NM_001113378.1(FANCI):c.1813C>T (p.Leu605Phe) rs117125761
NM_001113378.1(FANCI):c.1893A>C (p.Leu631Phe) rs118138806
NM_001113378.1(FANCI):c.2011A>G (p.Ile671Val) rs139814895
NM_001113378.1(FANCI):c.2604A>C (p.Glu868Asp) rs118031800
NM_001113378.1(FANCI):c.2832A>C (p.Arg944Ser) rs79685648
NM_001113378.1(FANCI):c.3255+6dupT rs878854178
NM_001122606.1(LAMP2):c.1093+2514G>A rs144140265
NM_001127178.2(PIGG):c.158C>A (p.Ala53Asp) rs28454778
NM_001127178.2(PIGG):c.164C>A (p.Ser55Tyr) rs34120878
NM_001127221.1(CACNA1A):c.1360G>A (p.Ala454Thr) rs41276886
NM_001127221.1(CACNA1A):c.1785G>A (p.Lys595=) rs756972061
NM_001127221.1(CACNA1A):c.2690C>G (p.Pro897Arg) rs121908242
NM_001127221.1(CACNA1A):c.2740C>T (p.Pro914Ser) rs16020
NM_001127221.1(CACNA1A):c.3043G>A (p.Glu1015Lys) rs16024
NM_001127221.1(CACNA1A):c.6657_6659delCCA (p.His2220del) rs759331923
NM_001127221.1(CACNA1A):c.6659_6661delATC (p.His2220del) rs749638821
NM_001127221.1(CACNA1A):c.6661_6662insACC (p.His2220_Pro2221insHis) rs768950814
NM_001127464.2(ZNF469):c.10711G>T (p.Ala3571Ser) rs199760004
NM_001127464.2(ZNF469):c.2407G>T (p.Ala803Ser) rs113484918
NM_001127464.2(ZNF469):c.3566C>T (p.Pro1189Leu) rs115183769
NM_001127464.2(ZNF469):c.5003C>T (p.Pro1668Leu) rs115487796
NM_001127464.2(ZNF469):c.6860C>G (p.Pro2287Arg) rs77490207
NM_001128177.1(THRB):c.994G>A (p.Gly332Arg) rs28999969
NM_001128227.2(GNE):c.-10G>A rs73449614
NM_001128227.2(GNE):c.2179G>T (p.Val727Leu) rs121908627
NM_001128425.1(MUTYH):c.312C>T (p.Tyr104=) rs121908380
NM_001128849.1(SMARCA4):c.1419+9C>T rs374635008
NM_001128849.1(SMARCA4):c.222+14T>C rs112825147
NM_001128849.1(SMARCA4):c.2275-3C>A rs117611401
NM_001128849.1(SMARCA4):c.4731+12G>A rs34930626
NM_001130144.2(LTBP3):c.1550C>T (p.Pro517Leu) rs145001056
NM_001130438.2(SPTAN1):c.3520-14C>G rs142682344
NM_001130438.2(SPTAN1):c.7102G>C (p.Glu2368Gln) rs796053329
NM_001131025.1(PEX5):c.815T>C (p.Met272Thr) rs76708142
NM_001135243.1(TCOF1):c.1229C>T (p.Ser410Leu) rs114326915
NM_001135243.1(TCOF1):c.122C>T (p.Ala41Val) rs56180593
NM_001135243.1(TCOF1):c.4329_4331delGAA (p.Lys1444del) rs574569798
NM_001135243.1(TCOF1):c.827_844del18 (p.Gly276_Glu281del) rs528897827
NM_001135244.1(TCOF1):c.1028G>A (p.Ser343Asn) rs144327167
NM_001135599.3(TGFB2):c.703G>C (p.Val235Leu) rs10482810
NM_001135659.2(NRXN1):c.2242C>A (p.Leu748Ile) rs56086732
NM_001135659.2(NRXN1):c.871+9G>A rs61658382
NM_001142301.1(TMEM67):c.2522-6del rs747342409
NM_001142763.1(PCDH15):c.4871A>G (p.Asn1624Ser) rs111033362
NM_001142864.4(PIEZO1):c.3667G>A (p.Val1223Ile) rs185326407
NM_001143979.1(NDE1):c.572C>T (p.Thr191Ile) rs113493697
NM_001145026.1(PTPRQ):c.202G>A (p.Gly68Arg) rs61729303
NM_001148.4(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544
NM_001148.4(ANK2):c.11791G>A (p.Glu3931Lys) rs45454496
NM_001148.4(ANK2):c.9454A>G (p.Thr3152Ala) rs61741040
NM_001163817.1(DHCR7):c.25A>T (p.Ile9Phe) rs115595829
NM_001164277.1(SLC37A4):c.1275C>T (p.Ser425=) rs35010541
NM_001165963.1(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053
NM_001167734.1(VARS2):c.1604C>T (p.Ser535Phe) rs61746524
NM_001167734.1(VARS2):c.2383G>A (p.Val795Met) rs55865499
NM_001172696.1(TSFM):c.817G>A (p.Val273Ile) rs114694283
NM_001172696.1(TSFM):c.859C>A (p.Leu287Ile) rs62000432
NM_001173990.2(TMEM216):c.253C>A (p.Arg85=) rs11230683
NM_001173991.2(TMEM216):c.35-17C>T rs147953784
NM_001178007.1(BBS12):c.1381A>C (p.Asn461His) rs10027479
NM_001182.4(ALDH7A1):c.-34G>C rs140627539
NM_001182.4(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707
NM_001182.4(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684
NM_001184.3(ATR):c.2290A>G (p.Lys764Glu) rs77208665
NM_001184.3(ATR):c.268C>T (p.His90Tyr) rs28897763
NM_001184.3(ATR):c.4835A>G (p.Asn1612Ser) rs55894265
NM_001184.3(ATR):c.6394T>G (p.Tyr2132Asp) rs28910273
NM_001184.3(ATR):c.7300C>G (p.Pro2434Ala) rs33972295
NM_001184880.1(PCDH19):c.1618C>T (p.Leu540Phe) rs374593325
NM_001184880.1(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001184880.1(PCDH19):c.3439G>A (p.Val1147Ile) rs138771033
NM_001193466.1(KANSL1):c.1826G>A (p.Ser609Asn) rs138698439
NM_001193466.1(KANSL1):c.2294C>T (p.Ala765Val) rs151099014
NM_001193466.1(KANSL1):c.607G>C (p.Gly203Arg) rs138175526
NM_001193466.1(KANSL1):c.620A>G (p.Asn207Ser) rs144882998
NM_001193466.1(KANSL1):c.773T>C (p.Leu258Ser) rs145714368
NM_001197104.1(KMT2A):c.158C>T (p.Ala53Val) rs9332747
NM_001197104.1(KMT2A):c.89C>G (p.Ala30Gly) rs9332745
NM_001198896.1(ACY1):c.841C>T (p.Arg281Cys) rs121912698
NM_001199107.1(TBC1D24):c.1427C>A (p.Ala476Asp) rs202216463
NM_001199107.1(TBC1D24):c.179G>A (p.Arg60Gln) rs200226466
NM_001199107.1(TBC1D24):c.785C>T (p.Ser262Leu) rs201060500
NM_001202.5(BMP4):c.370+28G>A rs72680532
NM_001204.6(BMPR2):c.797G>C (p.Arg266Thr) rs374694591
NM_001232.3(CASQ2):c.731A>G (p.His244Arg) rs28730716
NM_001242896.1(DEPDC5):c.2020C>T (p.Arg674Cys) rs181347577
NM_001242896.2(DEPDC5):c.814G>A (p.Val272Ile) rs187334123
NM_001243133.1(NLRP3):c.1020C>T (p.Pro340=) rs41311573
NM_001243133.1(NLRP3):c.592G>A (p.Val198Met) rs121908147
NM_001244189.1(KIAA0586):c.581T>C (p.Met194Thr) rs61735931
NM_001256182.1(ANKRD11):c.5088C>G (p.Asp1696Glu) rs146205997
NM_001256864.1(DNAJC6):c.1456C>T (p.Leu486Phe) rs78141380
NM_001267550.2(TTN):c.23378-10C>A rs72648975
NM_001267550.2(TTN):c.30512-10dup rs397517532
NM_001271.3(CHD2):c.4534C>T (p.Arg1512Trp) rs755898320
NM_001271.3(CHD2):c.4592+18G>A rs116022337
NM_001271.3(CHD2):c.5245C>T (p.Pro1749Ser) rs772907727
NM_001271208.1(NEB):c.19944G>A (p.Ser6648=) rs201553266
NM_001271208.1(NEB):c.21790G>C (p.Asp7264His) rs201979610
NM_001271208.1(NEB):c.4206T>A (p.Asn1402Lys) rs201169452
NM_001271208.1(NEB):c.4466G>A (p.Gly1489Asp) rs74482326
NM_001271208.1(NEB):c.539A>G (p.Lys180Arg) rs200719359
NM_001271208.1(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001271999.1(DOCK7):c.1285C>T (p.Arg429Ter) rs1057520100
NM_001271999.1(DOCK7):c.2471T>C (p.Ile824Thr) rs35400360
NM_001277115.1(DNAH11):c.11233G>A (p.Glu3745Lys) rs182389910
NM_001277115.1(DNAH11):c.12561T>G (p.Asp4187Glu) rs148429731
NM_001277115.1(DNAH11):c.3946A>G (p.Met1316Val) rs17144788
NM_001277115.1(DNAH11):c.58C>A (p.Arg20Ser) rs72655967
NM_001277115.1(DNAH11):c.6416G>A (p.Arg2139Lys) rs140048925
NM_001277115.1(DNAH11):c.7812-18C>G rs147865931
NM_001277115.1(DNAH11):c.8279A>G (p.Gln2760Arg) rs72657366
NM_001277115.1(DNAH11):c.8969G>A (p.Arg2990His) rs72657371
NM_001277269.1(OTOG):c.2548G>C (p.Gly850Arg) rs61734214
NM_001277269.1(OTOG):c.4048C>T (p.Arg1350Trp) rs61734125
NM_001277269.1(OTOG):c.6110C>T (p.Ala2037Val) rs61736002
NM_001281723.2(BTD):c.1495C>T (p.Pro499Ser) rs138818907
NM_001281723.2(BTD):c.465G>A (p.Glu155=) rs397514360
NM_001281723.2(BTD):c.517G>A (p.Ala173Thr) rs13073139
NM_001281723.2(BTD):c.886A>G (p.Ile296Val) rs35976361
NM_001281724.2(BTD):c.1336G>C (p.Asp446His) rs13078881
NM_001281725.2(BTD):c.1224C>T (p.Tyr408=) rs35145938
NM_001303.3(COX10):c.1291C>T (p.Arg431Trp) rs113058506
NM_001303.3(COX10):c.682C>T (p.Arg228Cys) rs114521946
NM_001303052.1(MYT1L):c.1706G>A (p.Arg569Gln) rs878853045
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_001360.2(DHCR7):c.1A>G (p.Met1Val) rs104886033
NM_001360.2(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.2(DHCR7):c.964-1G>C rs138659167
NM_001360.2(DHCR7):c.99-4G>A rs140748737
NM_001363.4(DKC1):c.-142C>G rs199422241
NM_001369.2(DNAH5):c.13338+16C>T rs115271897
NM_001369.2(DNAH5):c.299G>C (p.Gly100Ala) rs144236383
NM_001369.2(DNAH5):c.5272-15dupT rs35337694
NM_001369.2(DNAH5):c.6579+20G>A rs115382993
NM_001369.2(DNAH5):c.6703T>G (p.Leu2235Val) rs115109673
NM_001369.2(DNAH5):c.6919G>A (p.Val2307Ile) rs74604638
NM_001376.4(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684
NM_001396.3(DYRK1A):c.2035G>C (p.Ala679Pro) rs55720916
NM_001396.4(DYRK1A):c.208-13C>G rs140466090
NM_001397.2(ECE1):c.1385G>A (p.Ser462Asn) rs141146885
NM_001399.4(EDA):c.206G>T (p.Arg69Leu) rs132630309
NM_001429.3(EP300):c.2773C>A (p.Pro925Thr) rs148884710
NM_001456.3(FLNA):c.1439C>T (p.Pro480Leu) rs782168634
NM_001456.3(FLNA):c.1579C>T (p.Arg527Cys) rs202029322
NM_001456.3(FLNA):c.1813G>A (p.Asp605Asn) rs201093148
NM_001456.3(FLNA):c.2449C>T (p.Pro817Ser) rs200053635
NM_001456.3(FLNA):c.3379G>A (p.Val1127Met) rs398123617
NM_001456.3(FLNA):c.5948C>T (p.Ser1983Leu) rs187029309
NM_001456.3(FLNA):c.5999-10C>G rs72616474
NM_001456.3(FLNA):c.65A>G (p.Asp22Gly) rs782598729
NM_001456.3(FLNA):c.7243C>T (p.Pro2415Ser) rs200198847
NM_001457.3(FLNB):c.1559C>T (p.Pro520Leu) rs138220431
NM_001457.3(FLNB):c.1919C>T (p.Thr640Met) rs62621999
NM_001457.3(FLNB):c.362A>T (p.Tyr121Phe) rs147846832
NM_001458.4(FLNC):c.7614G>T (p.Leu2538Phe) rs180834558
NM_001478.4(B4GALNT1):c.793G>A (p.Gly265Arg) rs144922627
NM_001482.2(GATM):c.407C>T (p.Thr136Met) rs148564534
NM_001605.2(AARS):c.2185C>T (p.Arg729Trp) rs138081804
NM_001605.2(AARS):c.2459A>G (p.Lys820Arg) rs147319762
NM_001605.2(AARS):c.64G>A (p.Glu22Lys) rs151091410
NM_001614.3(ACTG1):c.123+8G>A rs536476533
NM_001625.3(AK2):c.625G>A (p.Ala209Thr) rs12116440
NM_001698.2(AUH):c.182C>A (p.Pro61His) rs181327211
NM_001698.2(AUH):c.20C>T (p.Ala7Val) rs863223911
NM_001710.5(CFB):c.1598A>G (p.Lys533Arg) rs149101394
NM_001723.5(DST):c.22delT (p.Tyr8Thrfs) rs775912185
NM_001723.5(DST):c.5909T>C (p.Phe1970Ser) rs141573097
NM_001830.3(CLCN4):c.1664C>T (p.Ala555Val) rs879255583
NM_001830.3(CLCN4):c.244+4C>G rs192492405
NM_001844.4(COL2A1):c.3151G>A (p.Ala1051Thr) rs41272041
NM_001845.5(COL4A1):c.1000-13C>G rs115358624
NM_001845.5(COL4A1):c.3776C>G (p.Pro1259Arg) rs146329532
NM_001846.3(COL4A2):c.3368A>G (p.Glu1123Gly) rs117412802
NM_001848.2(COL6A1):c.1182+3G>A rs62215499
NM_001848.2(COL6A1):c.2042T>C (p.Ile681Thr) rs138884734
NM_001848.2(COL6A1):c.2424G>T (p.Gln808His) rs140547835
NM_001848.2(COL6A1):c.2809A>G (p.Lys937Glu) rs117583120
NM_001848.2(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001849.3(COL6A2):c.1970-9G>A rs747900252
NM_001849.3(COL6A2):c.2351G>A (p.Arg784His) rs75120695
NM_001849.3(COL6A2):c.2983G>A (p.Ala995Thr) rs35139588
NM_001849.3(COL6A2):c.3043A>C (p.Ile1015Leu) rs11910483
NM_001849.3(COL6A2):c.316G>A (p.Glu106Lys) rs141703710
NM_001849.3(COL6A2):c.832G>A (p.Glu278Lys) rs61735835
NM_001852.3(COL9A2):c.364-16A>G rs1979785
NM_001854.3(COL11A1):c.2556+92T>A rs550991929
NM_001854.3(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164
NM_001854.3(COL11A1):c.328G>C (p.Gly110Arg) rs141978499
NM_001854.3(COL11A1):c.4606C>G (p.Pro1536Ala) rs139064549
NM_001875.4(CPS1):c.3141+15delA rs577707531
NM_001875.4(CPS1):c.3355G>A (p.Ala1119Thr) rs76340296
NM_001875.4(CPS1):c.449G>A (p.Gly150Glu) rs114819130
NM_001909.4(CTSD):c.844G>A (p.Gly282Arg) rs147278302
NM_001916.4(CYC1):c.227T>C (p.Val76Ala) rs144257411
NM_001918.3(DBT):c.1281+6T>G rs140115881
NM_001918.3(DBT):c.724T>C (p.Ser242Pro) rs146249007
NM_001943.4(DSG2):c.3209C>T (p.Thr1070Met) rs149617776
NM_001953.4(TYMP):c.242G>A (p.Arg81Gln) rs143789597
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001972.2(ELANE):c.770C>T (p.Pro257Leu) rs17216663
NM_001999.3(FBN2):c.1040G>A (p.Arg347His) rs112428886
NM_001999.3(FBN2):c.2260G>A (p.Gly754Ser) rs145259927
NM_001999.3(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926
NM_001999.3(FBN2):c.728T>C (p.Ile243Thr) rs117524265
NM_001999.3(FBN2):c.829G>A (p.Val277Ile) rs146849637
NM_002016.1(FLG):c.7801G>A (p.Asp2601Asn) rs146849256
NM_002047.3(GARS):c.1163G>A (p.Arg388Gln) rs17159287
NM_002052.4(GATA4):c.1273G>A (p.Asp425Asn) rs56208331
NM_002055.4(GFAP):c.140C>T (p.Pro47Leu) rs57474185
NM_002056.3(GFPT1):c.*22C>A rs199678034
NM_002087.3(GRN):c.1297C>T (p.Arg433Trp) rs63750412
NM_002087.3(GRN):c.55C>T (p.Arg19Trp) rs63750723
NM_002109.5(HARS):c.410G>A (p.Arg137Gln) rs191391414
NM_002168.3(IDH2):c.673G>A (p.Asp225Asn) rs142816010
NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile) rs780594709
NM_002180.2(IGHMBP2):c.1808G>A (p.Arg603His) rs151079750
NM_002180.2(IGHMBP2):c.2360C>T (p.Pro787Leu) rs141594765
NM_002180.2(IGHMBP2):c.548-10T>G rs139207271
NM_002206.2(ITGA7):c.1281+13G>A rs143895796
NM_002206.2(ITGA7):c.1609C>T (p.Arg537Trp) rs61733050
NM_002206.2(ITGA7):c.2701A>G (p.Ile901Val) rs113651939
NM_002206.2(ITGA7):c.459C>G (p.Ile153Met) rs149000088
NM_002206.2(ITGA7):c.46T>G (p.Cys16Gly) rs142060614
NM_002222.5(ITPR1):c.1435G>A (p.Val479Ile) rs41289628
NM_002234.3(KCNA5):c.92G>T (p.Gly31Val) rs61737395
NM_002247.3(KCNMA1):c.135_137dupCTC (p.Ser60_Val61insSer) rs572827902
NM_002247.3(KCNMA1):c.153_155delTTC (p.Ser60del) rs751901610
NM_002291.2(LAMB1):c.3124G>A (p.Gly1042Ser) rs149204722
NM_002296.3(LBR):c.1609T>G (p.Ser537Ala) rs80299691
NM_002310.5(LIFR):c.1899A>G (p.Ile633Met) rs2303743
NM_002310.5(LIFR):c.1937C>A (p.Thr646Asn) rs79040751
NM_002317.6(LOX):c.476C>A (p.Pro159Gln) rs41407546
NM_002351.4(SH2D1A):c.48C>T (p.Gly16=) rs72610640
NM_002435.2(MPI):c.982C>T (p.Arg328Trp) rs117089191
NM_002454.2(MTRR):c.1982A>G (p.His661Arg) rs148909799
NM_002454.2(MTRR):c.997C>G (p.Leu333Val) rs10064631
NM_002470.3(MYH3):c.2683-14C>A rs202129717
NM_002470.3(MYH3):c.3592G>A (p.Ala1198Thr) rs61735358
NM_002470.3(MYH3):c.3938C>T (p.Thr1313Ile) rs35230241
NM_002471.3(MYH6):c.166G>A (p.Gly56Arg) rs28711516
NM_002471.3(MYH6):c.3883G>C (p.Glu1295Gln) rs34935550
NM_002485.4(NBN):c.1882G>A (p.Glu628Lys) rs115321485
NM_002485.4(NBN):c.797C>T (p.Pro266Leu) rs769420
NM_002488.4(NDUFA2):c.225delG (p.Asn76Metfs) rs863224084
NM_002488.4(NDUFA2):c.40C>G (p.Leu14Val) rs35672074
NM_002496.3(NDUFS8):c.305G>A (p.Arg102His) rs121912638
NM_002538.3(OCLN):c.922G>A (p.Val308Met) rs369518478
NM_002547.2(OPHN1):c.133G>A (p.Ala45Thr) rs148262378
NM_002547.2(OPHN1):c.2029C>A (p.Leu677Met) rs143713841
NM_002547.2(OPHN1):c.2079G>A (p.Met693Ile) rs36095561
NM_002547.2(OPHN1):c.902C>T (p.Thr301Met) rs138108344
NM_002609.3(PDGFRB):c.1033C>T (p.Pro345Ser) rs2229558
NM_002609.3(PDGFRB):c.946G>A (p.Val316Met) rs41287112
NM_002618.3(PEX13):c.674A>G (p.Asp225Gly) rs116059308
NM_002661.4(PLCG2):c.1565C>G (p.Pro522Arg) rs72824905
NM_002661.4(PLCG2):c.2542C>T (p.Leu848Phe) rs114618894
NM_002693.2(POLG):c.1156C>T (p.Arg386Cys) rs199759055
NM_002693.2(POLG):c.125_127dupGGC (p.Arg42_Gln43insArg) rs761080016
NM_002693.2(POLG):c.150_158dupGCAGCAGCA (p.Gln55_Pro56insGlnGlnGln) rs41550117
NM_002693.2(POLG):c.153_158dupGCAGCA (p.Gln55_Pro56insGlnGln) rs41550117
NM_002693.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_002693.2(POLG):c.1984G>A (p.Glu662Lys) rs2307450
NM_002693.2(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) rs41549716
NM_002693.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_002693.2(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.2(POLG):c.3139C>T (p.Arg1047Trp) rs181860632
NM_002693.2(POLG):c.408C>G (p.Asp136Glu) rs115109291
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.830A>T (p.His277Leu) rs138929605
NM_002693.2(POLG):c.911T>G (p.Leu304Arg) rs121918044
NM_002693.2(POLG):c.948G>A (p.Lys316=) rs61756401
NM_002739.4(PRKCG):c.285C>T (p.Asp95=) rs17854523
NM_002755.3(MAP2K1):c.694-8_694-7dup rs113913469
NM_002834.4(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.4(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_002834.4(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.4(PTPN11):c.526-8C>A rs184804143
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002857.3(PEX19):c.771+3A>G rs141133579
NM_002857.3(PEX19):c.879T>C (p.Gly293=) rs74125561
NM_002968.2(SALL1):c.379G>C (p.Val127Leu) rs138635817
NM_002968.2(SALL1):c.809C>T (p.Pro270Leu) rs140827311
NM_002977.3(SCN9A):c.2157G>C (p.Trp719Cys) rs202055175
NM_002977.3(SCN9A):c.2215A>G (p.Ile739Val) rs182650126
NM_002977.3(SCN9A):c.2359A>G (p.Met787Val) rs149707354
NM_002977.3(SCN9A):c.2404A>G (p.Ser802Gly) rs201890240
NM_002977.3(SCN9A):c.3328C>T (p.Arg1110Trp) rs190664764
NM_002977.3(SCN9A):c.3734A>G (p.Asn1245Ser) rs141268327
NM_002977.3(SCN9A):c.3799C>G (p.Leu1267Val) rs180922748
NM_002977.3(SCN9A):c.554G>A (p.Arg185His) rs73969684
NM_002977.3(SCN9A):c.5678G>A (p.Arg1893His) rs79805025
NM_002977.3(SCN9A):c.5746C>T (p.Leu1916Phe) rs111558968
NM_002977.3(SCN9A):c.684C>G (p.Ile228Met) rs71428908
NM_003000.2(SDHB):c.170A>G (p.His57Arg) rs35962811
NM_003000.2(SDHB):c.423+20T>A rs190139590
NM_003000.2(SDHB):c.8C>G (p.Ala3Gly) rs11203289
NM_003002.3(SDHD):c.149A>G (p.His50Arg) rs11214077
NM_003035.2(STIL):c.1055G>A (p.Arg352His) rs141678367
NM_003035.2(STIL):c.1455G>C (p.Leu485Phe) rs139912214
NM_003035.2(STIL):c.2017A>G (p.Ser673Gly) rs140448154
NM_003036.3(SKI):c.1163C>T (p.Ala388Val) rs75280988
NM_003036.3(SKI):c.1196C>T (p.Ala399Val) rs141862996
NM_003042.3(SLC6A1):c.1243C>A (p.Leu415Ile) rs112095333
NM_003060.3(SLC22A5):c.1193C>T (p.Pro398Leu) rs144547521
NM_003060.3(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514
NM_003060.3(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921
NM_003060.3(SLC22A5):c.1409C>T (p.Ser470Phe) rs386134222
NM_003108.3(SOX11):c.1051_1062dup (p.Ser354_Gly355insSerGlySerSer) rs751221446
NM_003122.4(SPINK1):c.36G>C (p.Leu12Phe) rs35877720
NM_003122.4(SPINK1):c.88-23A>T rs199929811
NM_003124.4(SPR):c.112G>A (p.Val38Ile) rs146099322
NM_003156.3(STIM1):c.1571C>T (p.Ser524Phe) rs141215990
NM_003159.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_003165.3(STXBP1):c.1351G>A (p.Val451Ile) rs150259704
NM_003193.4(TBCE):c.155_166delGCCACGAAGGGA (p.Ser52_Gly55del) rs767004810
NM_003331.4(TYK2):c.2783C>T (p.Ala928Val) rs35018800
NM_003413.3(ZIC3):c.649C>G (p.Pro217Ala) rs104894963
NM_003476.4(CSRP3):c.299G>A (p.Arg100His) rs138218523
NM_003477.2(PDHX):c.976G>C (p.Val326Leu) rs35560997
NM_003482.3(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282
NM_003482.3(KMT2D):c.10993C>G (p.Pro3665Ala) rs112170602
NM_003482.3(KMT2D):c.12634C>T (p.Arg4212Trp) rs760279999
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.15088C>T (p.Arg5030Cys) rs1555185875
NM_003482.3(KMT2D):c.15671G>A (p.Arg5224His) rs3782356
NM_003482.3(KMT2D):c.2074C>A (p.Pro692Thr) rs202076833
NM_003482.3(KMT2D):c.3572C>T (p.Pro1191Leu) rs112236653
NM_003482.3(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869
NM_003482.3(KMT2D):c.7670C>T (p.Pro2557Leu) rs189888707
NM_003494.3(DYSF):c.1120G>C (p.Val374Leu) rs150724610
NM_003494.3(DYSF):c.2053C>G (p.Leu685Val) rs74423119
NM_003494.3(DYSF):c.5668-7G>A rs753861836
NM_003573.2(LTBP4):c.1328G>A (p.Gly443Asp) rs114749335
NM_003597.4(KLF11):c.659C>T (p.Thr220Met) rs34336420
NM_003611.2(OFD1):c.2060C>T (p.Pro687Leu) rs146251034
NM_003640.3(ELP1):c.2543C>A (p.Thr848Asn) rs10979599
NM_003688.3(CASK):c.2282G>A (p.Arg761Gln) rs137964936
NM_003722.4(TP63):c.192-9_192-8delAT rs794727498
NM_003730.5(RNASET2):c.643G>A (p.Glu215Lys) rs41269593
NM_003737.4(DCHS1):c.1546G>A (p.Ala516Thr) rs142972252
NM_003742.4(ABCB11):c.2093G>A (p.Arg698His) rs138642043
NM_003742.4(ABCB11):c.2594C>T (p.Ala865Val) rs118109635
NM_003759.3(SLC4A4):c.2632-2dupA rs148961885
NM_003793.3(CTSF):c.1261C>T (p.Arg421Trp) rs28464796
NM_003829.4(MPDZ):c.1041G>C (p.Leu347Phe) rs34911705
NM_003850.2(SUCLA2):c.110T>G (p.Leu37Trp) rs62636645
NM_003850.2(SUCLA2):c.256A>G (p.Ile86Val) rs61756204
NM_003850.2(SUCLA2):c.811A>G (p.Met271Val) rs142020748
NM_003859.2(DPM1):c.679-7_679-6insT rs11480415
NM_003859.2(DPM1):c.679-7_679-6insTT rs11480415
NM_003895.3(SYNJ1):c.160C>T (p.Pro54Ser) rs61755328
NM_003916.4(AP1S2):c.288T>C (p.Ser96=) rs61741688
NM_004004.5(GJB2):c.35delG (p.Gly12Valfs) rs80338939
NM_004006.2(DMD):c.10087-20C>T rs41303187
NM_004006.2(DMD):c.1666G>A (p.Asp556Asn) rs182708940
NM_004006.2(DMD):c.2623-11C>G rs1028360
NM_004006.2(DMD):c.4162T>G (p.Phe1388Val) rs28715870
NM_004006.2(DMD):c.5182C>T (p.Arg1728Cys) rs34102501
NM_004035.6(ACOX1):c.80C>T (p.Pro27Leu) rs145082938
NM_004037.7(AMPD2):c.1569+3A>G rs41280332
NM_004064.4(CDKN1B):c.577C>T (p.Leu193Phe) rs73281150
NM_004092.3(ECHS1):c.518C>T (p.Ala173Val) rs150321966
NM_004104.4(FASN):c.2155G>A (p.Glu719Lys) rs12946178
NM_004153.3(ORC1):c.57G>C (p.Arg19Ser) rs3087473
NM_004168.3(SDHA):c.17G>A (p.Gly6Asp) rs187964306
NM_004168.3(SDHA):c.550G>A (p.Gly184Arg) rs148246073
NM_004208.3(AIFM1):c.452G>A (p.Arg151Gln) rs752742151
NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys) rs143524436
NM_004260.3(RECQL4):c.161A>G (p.Gln54Arg) rs35198096
NM_004260.3(RECQL4):c.1879-15C>A rs35126141
NM_004260.3(RECQL4):c.2569_2574dup (p.Thr858_Arg859insCysThr) rs548804317
NM_004278.3(PIGL):c.424C>A (p.Leu142Met) rs115958467
NM_004278.3(PIGL):c.500T>C (p.Leu167Pro) rs145303331
NM_004281.3(BAG3):c.1138C>T (p.Pro380Ser) rs144692954
NM_004281.3(BAG3):c.280A>T (p.Ile94Phe) rs145393807
NM_004315.5(ASAH1):c.1153G>A (p.Val385Ile) rs17636067
NM_004321.7(KIF1A):c.2782G>A (p.Val928Met) rs183359489
NM_004321.7(KIF1A):c.4301C>T (p.Ala1434Val) rs141441058
NM_004321.7(KIF1A):c.4718+16C>T rs138847355
NM_004328.4(BCS1L):c.166C>T (p.Arg56Ter) rs121908576
NM_004333.5(BRAF):c.78G>T (p.Glu26Asp) rs371877084
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787
NM_004366.5(CLCN2):c.143C>G (p.Pro48Arg) rs115661422
NM_004366.5(CLCN2):c.203G>A (p.Arg68His) rs61729156
NM_004366.5(CLCN2):c.2173C>T (p.Arg725Trp) rs114702742
NM_004366.5(CLCN2):c.704G>A (p.Arg235Gln) rs71318369
NM_004369.3(COL6A3):c.1786G>T (p.Ala596Ser) rs34934127
NM_004369.3(COL6A3):c.1791C>T (p.Phe597=) rs76576170
NM_004369.3(COL6A3):c.4156G>A (p.Glu1386Lys) rs146092501
NM_004369.3(COL6A3):c.4183C>T (p.Arg1395Trp) rs73998894
NM_004369.3(COL6A3):c.4184G>A (p.Arg1395Gln) rs80272723
NM_004369.3(COL6A3):c.4285+9G>A rs75780727
NM_004369.3(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596
NM_004369.3(COL6A3):c.5610C>A (p.Ser1870Arg) rs113153193
NM_004369.3(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455
NM_004369.3(COL6A3):c.9524T>C (p.Met3175Thr) rs148183839
NM_004370.5(COL12A1):c.8237T>C (p.Val2746Ala) rs34369939
NM_004376.6(COX15):c.988-8C>A rs542092025
NM_004380.2(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381
NM_004380.2(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649
NM_004380.2(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.2(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883
NM_004380.2(CREBBP):c.6685G>A (p.Gly2229Ser) rs139688311
NM_004387.3(NKX2-5):c.61G>C (p.Glu21Gln) rs104893904
NM_004393.5(DAG1):c.259A>G (p.Ile87Val) rs116717961
NM_004408.3(DNM1):c.1894-18G>T rs116335289
NM_004408.3(DNM1):c.1905+17C>T rs115623280
NM_004408.3(DNM1):c.2540C>T (p.Ser847Leu) rs199498658
NM_004415.2(DSP):c.*9T>A rs11558732
NM_004415.2(DSP):c.2723G>A (p.Arg908His) rs142494121
NM_004415.2(DSP):c.2815G>A (p.Gly939Ser) rs80325569
NM_004415.2(DSP):c.4141A>T (p.Thr1381Ser) rs77758574
NM_004415.2(DSP):c.4609C>T (p.Arg1537Cys) rs28763967
NM_004415.3(DSP):c.6208G>A (p.Asp2070Asn) rs41302885
NM_004453.3(ETFDH):c.1773_1774delAT (p.Cys592Terfs) rs767795266
NM_004453.3(ETFDH):c.250G>A (p.Ala84Thr) rs121964954
NM_004456.4(EZH2):c.2028T>C (p.Asn676=) rs115842196
NM_004458.2(ACSL4):c.1325A>G (p.Tyr442Cys) rs200451158
NM_004458.2(ACSL4):c.806+3A>G rs183171123
NM_004463.2(FGD1):c.395G>A (p.Arg132Gln) rs145644275
NM_004463.2(FGD1):c.676G>A (p.Ala226Thr) rs138723423
NM_004463.2(FGD1):c.935C>T (p.Pro312Leu) rs28935498
NM_004484.3(GPC3):c.1285G>A (p.Val429Met) rs11539789
NM_004484.3(GPC3):c.826G>A (p.Gly276Ser) rs141100113
NM_004509.3(SP110):c.1100C>T (p.Thr367Met) rs59573011
NM_004519.3(KCNQ3):c.1700+3G>A rs115092422
NM_004525.2(LRP2):c.10403C>T (p.Pro3468Leu) rs143367996
NM_004525.2(LRP2):c.11759-5T>G rs76488092
NM_004525.2(LRP2):c.13610A>C (p.Gln4537Pro) rs188918037
NM_004525.3(LRP2):c.11092G>A (p.Val3698Met) rs34355135
NM_004525.3(LRP2):c.1167T>G (p.Asp389Glu) rs111704488
NM_004525.3(LRP2):c.149C>G (p.Thr50Ser) rs114460450
NM_004525.3(LRP2):c.5293G>A (p.Val1765Met) rs116456291
NM_004541.3(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316
NM_004543.4(NEB):c.18392C>T (p.Thr6131Ile) rs34368668
NM_004543.4(NEB):c.3826C>A (p.Pro1276Thr) rs34234609
NM_004544.3(NDUFA10):c.1000-10delT rs863224081
NM_004544.3(NDUFA10):c.712G>A (p.Glu238Lys) rs35462421
NM_004550.4(NDUFS2):c.968G>A (p.Arg323Gln) rs35086265
NM_004560.3(ROR2):c.2805C>G (p.Asp935Glu) rs41277835
NM_004562.2(PRKN):c.719C>T (p.Thr240Met) rs137853054
NM_004562.2(PRKN):c.783A>G (p.Leu261=) rs9456711
NM_004572.3(PKP2):c.1592T>G (p.Ile531Ser) rs147240502
NM_004572.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_004589.3(SCO1):c.16C>G (p.Leu6Val) rs61753148
NM_004629.1(FANCG):c.890C>T (p.Thr297Ile) rs2237857
NM_004667.5(HERC2):c.10969G>A (p.Val3657Ile) rs139953376
NM_004733.3(SLC33A1):c.1525G>A (p.Gly509Ser) rs76440173
NM_004737.6(LARGE1):c.1548C>T (p.Tyr516=) rs34292743
NM_004738.4(VAPB):c.656G>T (p.Gly219Val) rs786205553
NM_004782.3(SNAP29):c.487A>G (p.Ser163Gly) rs116892729
NM_004826.3(ECEL1):c.967-7C>G rs76735188
NM_004836.6(EIF2AK3):c.1756A>T (p.Ile586Leu) rs75385605
NM_004836.6(EIF2AK3):c.2014G>A (p.Glu672Lys) rs35226268
NM_004840.2(ARHGEF6):c.891G>T (p.Gln297His) rs5974620
NM_004863.3(SPTLC2):c.1664C>T (p.Thr555Met) rs138652708
NM_004870.3(MPDU1):c.43C>T (p.Pro15Ser) rs148935720
NM_004895.4(NLRP3):c.403+7G>A rs192297357
NM_004937.2(CTNS):c.124G>A (p.Val42Ile) rs35086888
NM_004937.2(CTNS):c.589G>A (p.Gly197Arg) rs113994207
NM_004949.4(DSC2):c.1073C>T (p.Thr358Ile) rs139399951
NM_004958.3(MTOR):c.4448G>T (p.Cys1483Phe) rs786205165
NM_004984.3(KIF5A):c.820-19G>T rs181688415
NM_004985.4(KRAS):c.531_533delGAA (p.Lys180del) rs397517043
NM_004992.3(MECP2):c.1160C>T (p.Pro387Leu) rs63390262
NM_004992.3(MECP2):c.1189G>A (p.Glu397Lys) rs56268439
NM_004992.3(MECP2):c.1330G>A (p.Ala444Thr) rs61753975
NM_004992.3(MECP2):c.378-17delT rs61753982
NM_004992.3(MECP2):c.419C>T (p.Ala140Val) rs28934908
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.590C>T (p.Thr197Met) rs61749714
NM_004992.3(MECP2):c.602C>T (p.Ala201Val) rs61748381
NM_004992.3(MECP2):c.996C>T (p.Ser332=) rs148744894
NM_005006.6(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826
NM_005025.4(SERPINI1):c.289G>A (p.Val97Ile) rs61750375
NM_005025.4(SERPINI1):c.518A>G (p.Asp173Gly) rs61735309
NM_005025.4(SERPINI1):c.77T>C (p.Ile26Thr) rs146948408
NM_005045.3(RELN):c.1290-3dupT rs146986040
NM_005045.3(RELN):c.139G>A (p.Glu47Lys) rs139648092
NM_005045.3(RELN):c.2932A>G (p.Thr978Ala) rs3025962
NM_005045.3(RELN):c.4589-8T>G rs362801
NM_005045.3(RELN):c.5108C>G (p.Pro1703Arg) rs2229860
NM_005045.3(RELN):c.5156C>T (p.Ser1719Leu) rs115913736
NM_005045.3(RELN):c.5618C>T (p.Thr1873Ile) rs41275239
NM_005045.3(RELN):c.5923G>A (p.Gly1975Ser) rs114807343
NM_005045.3(RELN):c.6343G>A (p.Gly2115Ser) rs116716038
NM_005045.3(RELN):c.8086G>A (p.Ala2696Thr) rs115640958
NM_005045.3(RELN):c.9730G>A (p.Gly3244Ser) rs73714410
NM_005050.3(ABCD4):c.1736G>A (p.Arg579Gln) rs143288344
NM_005055.4(RAPSN):c.241T>C (p.Phe81Leu) rs57878668
NM_005076.4(CNTN2):c.505C>T (p.Leu169Phe) rs142502980
NM_005120.2(MED12):c.1248+15T>C rs187377817
NM_005120.2(MED12):c.1849A>G (p.Thr617Ala) rs765417606
NM_005120.2(MED12):c.4238C>A (p.Thr1413Asn) rs759532414
NM_005120.2(MED12):c.5650G>A (p.Gly1884Ser) rs147354926
NM_005138.2(SCO2):c.776C>T (p.Ala259Val) rs8139305
NM_005188.2(CBL):c.127_128insACC (p.His42_Leu43insHis) rs373212940
NM_005188.3(CBL):c.2036+9G>T rs142704935
NM_005188.3(CBL):c.2269G>A (p.Ala757Thr) rs146517083
NM_005188.3(CBL):c.2710G>A (p.Val904Ile) rs17122769
NM_005198.4(CHKB):c.983A>G (p.Gln328Arg) rs141381896
NM_005199.5(CHRNG):c.1516C>T (p.Pro506Ser) rs71421651
NM_005219.4(DIAPH1):c.1423G>A (p.Glu475Lys) rs193036129
NM_005219.4(DIAPH1):c.1851_1853dupTCC (p.Pro620_Leu621insPro) rs3075570
NM_005236.2(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802
NM_005236.2(ERCC4):c.2617A>G (p.Ile873Val) rs2020957
NM_005236.2(ERCC4):c.2624A>G (p.Glu875Gly) rs1800124
NM_005249.4(FOXG1):c.1045T>G (p.Ser349Ala) rs796052472
NM_005257.5(GATA6):c.1723G>C (p.Ala575Pro) rs149569288
NM_005270.4(GLI2):c.3349G>T (p.Val1117Leu) rs147580961
NM_005270.4(GLI2):c.3590G>A (p.Gly1197Asp) rs114823319
NM_005270.4(GLI2):c.4332G>A (p.Met1444Ile) rs146467786
NM_005270.4(GLI2):c.4333C>T (p.Leu1445Phe) rs146207623
NM_005270.4(GLI2):c.803C>T (p.Ala268Val) rs146992756
NM_005327.4(HADH):c.275T>G (p.Phe92Cys) rs61735992
NM_005334.2(HCFC1):c.3794C>T (p.Ser1265Leu) rs189548179
NM_005334.2(HCFC1):c.4159G>A (p.Val1387Met) rs200164926
NM_005334.2(HCFC1):c.5418G>A (p.Met1806Ile) rs199511876
NM_005445.3(SMC3):c.1092-8T>G rs79912955
NM_005445.3(SMC3):c.2644+6T>A rs201281088
NM_005450.4(NOG):c.275G>A (p.Gly92Glu) rs199566527
NM_005506.3(SCARB2):c.362G>A (p.Arg121Gln) rs73826386
NM_005518.3(HMGCS2):c.1124C>G (p.Ser375Cys) rs151328418
NM_005529.6(HSPG2):c.12004C>G (p.Leu4002Val) rs140403186
NM_005529.7(HSPG2):c.10702G>A (p.Val3568Ile) rs115616224
NM_005529.7(HSPG2):c.2869A>C (p.Asn957His) rs62618730
NM_005529.7(HSPG2):c.9719C>T (p.Ala3240Val) rs62642505
NM_005534.3(IFNGR2):c.544A>G (p.Lys182Glu) rs17878711
NM_005535.2(IL12RB1):c.1573G>A (p.Ala525Thr) rs11575935
NM_005592.3(MUSK):c.1931T>C (p.Val644Ala) rs41279055
NM_005592.3(MUSK):c.398T>C (p.Ile133Thr) rs55980069
NM_005603.6(ATP8B1):c.1739G>A (p.Ser580Asn) rs33963153
NM_005629.3(SLC6A8):c.1141+18G>A rs187400676
NM_005633.3(SOS1):c.1074+5G>C rs145155424
NM_005633.3(SOS1):c.2122G>A (p.Ala708Thr) rs140811086
NM_005633.3(SOS1):c.2167+6T>G rs186640807
NM_005633.3(SOS1):c.749T>C (p.Val250Ala) rs139290271
NM_005634.2(SOX3):c.14G>A (p.Arg5Gln) rs112180170
NM_005670.3(EPM2A):c.680C>T (p.Ala227Val) rs147399860
NM_005732.3(RAD50):c.3036+5G>A rs181016343
NM_005732.3(RAD50):c.572C>T (p.Thr191Ile) rs2230017
NM_005745.7(BCAP31):c.383C>T (p.Thr128Met) rs111450526
NM_005751.4(AKAP9):c.8485G>A (p.Glu2829Lys) rs149946443
NM_005763.3(AASS):c.1678C>T (p.Pro560Ser) rs74882337
NM_005802.4(TOPORS):c.74C>G (p.Ser25Trp) rs61758066
NM_005912.2(MC4R):c.751A>C (p.Ile251Leu) rs52820871
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) rs141328044
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln) rs41264699
NM_006005.3(WFS1):c.712+16G>A rs71524367
NM_006015.4(ARID1A):c.2123A>C (p.Gln708Pro) rs367889013
NM_006015.4(ARID1A):c.5717G>A (p.Arg1906Gln) rs41303631
NM_006019.3(TCIRG1):c.2285_2290dupTGGGCC (p.Gly763_Arg764insLeuGly) rs199973759
NM_006019.3(TCIRG1):c.482C>T (p.Pro161Leu) rs34227834
NM_006031.5(PCNT):c.4285C>T (p.Arg1429Cys) rs62224222
NM_006031.5(PCNT):c.5771C>T (p.Ala1924Val) rs184420466
NM_006031.5(PCNT):c.6634C>T (p.Arg2212Trp) rs144471022
NM_006031.5(PCNT):c.7159G>A (p.Val2387Met) rs75024419
NM_006031.5(PCNT):c.7404G>C (p.Gln2468His) rs77075366
NM_006031.5(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783
NM_006059.3(LAMC3):c.146A>G (p.Gln49Arg) rs201962705
NM_006059.3(LAMC3):c.1630+5C>G rs184221540
NM_006059.3(LAMC3):c.1792G>A (p.Gly598Arg) rs116422150
NM_006059.3(LAMC3):c.2039C>T (p.Thr680Met) rs73658916
NM_006059.3(LAMC3):c.3250G>C (p.Glu1084Gln) rs146221263
NM_006059.3(LAMC3):c.3379G>A (p.Glu1127Lys) rs140955110
NM_006063.2(KLHL41):c.1441A>G (p.Met481Val) rs34623017
NM_006129.4(BMP1):c.2234-20C>T rs142089697
NM_006231.3(POLE):c.16G>C (p.Gly6Arg) rs202220778
NM_006231.3(POLE):c.2089C>T (p.Pro697Ser) rs5744800
NM_006231.3(POLE):c.5678+4C>T rs5744973
NM_006231.3(POLE):c.776G>A (p.Arg259His) rs61732929
NM_006261.4(PROP1):c.152G>C (p.Gly51Ala) rs2233783
NM_006267.4(RANBP2):c.2351G>A (p.Arg784Lys) rs2912838
NM_006267.4(RANBP2):c.3226T>G (p.Leu1076Val) rs142768885
NM_006267.4(RANBP2):c.73-6T>A rs201485597
NM_006302.2(MOGS):c.1838G>A (p.Arg613Gln) rs142032474
NM_006302.2(MOGS):c.2353G>A (p.Gly785Ser) rs35533773
NM_006302.2(MOGS):c.881C>T (p.Pro294Leu) rs184209905
NM_006348.3(COG5):c.1340A>G (p.Tyr447Cys) rs41276187
NM_006348.3(COG5):c.1355A>G (p.His452Arg) rs35393416
NM_006363.6(SEC23B):c.1649G>A (p.Arg550Gln) rs111572459
NM_006371.4(CRTAP):c.558A>G (p.Ala186=) rs35357409
NM_006416.4(SLC35A1):c.19A>C (p.Asn7His) rs114156788
NM_006416.4(SLC35A1):c.7G>T (p.Ala3Ser) rs149903512
NM_006420.2(ARFGEF2):c.169C>T (p.Pro57Ser) rs73113975
NM_006432.4(NPC2):c.441+1G>A rs140130028
NM_006446.4(SLCO1B1):c.1200C>G (p.Phe400Leu) rs59113707
NM_006493.2(CLN5):c.49G>C (p.Gly17Arg) rs202118652
NM_006493.2(CLN5):c.61C>T (p.Pro21Ser) rs200353554
NM_006514.3(SCN10A):c.3674T>C (p.Ile1225Thr) rs139638446
NM_006517.4(SLC16A2):c.1111C>T (p.Arg371Cys) rs587784384
NM_006517.4(SLC16A2):c.412C>G (p.Gln138Glu) rs145061343
NM_006565.3(CTCF):c.1927C>T (p.Pro643Ser) rs145727304
NM_006594.4(AP4B1):c.1723A>G (p.Ile575Val) rs114734921
NM_006594.4(AP4B1):c.240A>G (p.Pro80=) rs34249695
NM_006612.5(KIF1C):c.1165+4G>A rs192489748
NM_006657.2(FTCD):c.990dupG (p.Pro331Alafs) rs398124234
NM_006662.2(SRCAP):c.1559G>A (p.Ser520Asn) rs139339184
NM_006662.2(SRCAP):c.3302C>A (p.Thr1101Lys) rs149248373
NM_006662.2(SRCAP):c.3868A>G (p.Ser1290Gly) rs150246733
NM_006662.2(SRCAP):c.4603C>G (p.Pro1535Ala) rs117804715
NM_006702.4(PNPLA6):c.1340C>T (p.Pro447Leu) rs145191932
NM_006702.4(PNPLA6):c.3964G>A (p.Gly1322Ser) rs145178162
NM_006765.3(TUSC3):c.193A>G (p.Ile65Val) rs11545035
NM_006766.4(KAT6A):c.4324G>A (p.Ala1442Thr) rs113195648
NM_006767.3(LZTR1):c.1353+8C>G rs75959644
NM_006783.4(GJB6):c.63delG (p.Lys22Argfs) rs770612890
NM_006846.3(SPINK5):c.802C>T (p.Arg268Cys) rs142558269
NM_006904.6(PRKDC):c.10376A>G (p.Asn3459Ser) rs8178228
NM_006920.4(SCN1A):c.5749C>G (p.Arg1917Gly) rs121917956
NM_006920.5(SCN1A):c.1811G>A (p.Arg604His) rs121918769
NM_006929.5(SKIV2L):c.1120C>T (p.Arg374Ter) rs200818962
NM_006939.3(SOS2):c.2014C>A (p.Leu672Ile) rs34139502
NM_006939.3(SOS2):c.3235A>G (p.Thr1079Ala) rs61755576
NM_006939.3(SOS2):c.3755_3757delTTA (p.Ile1252del) rs775506222
NM_006941.3(SOX10):c.249C>T (p.Tyr83=) rs73415876
NM_006947.3(SRP72):c.20G>C (p.Gly7Ala) rs139502866
NM_006949.3(STXBP2):c.*12G>A rs28464386
NM_006949.3(STXBP2):c.613G>A (p.Val205Ile) rs144586070
NM_007055.3(POLR3A):c.1909+18G>A rs267608677
NM_007055.3(POLR3A):c.1909+22G>A rs191875469
NM_007055.3(POLR3A):c.2938A>G (p.Ile980Val) rs146253630
NM_007059.3(KPTN):c.631G>C (p.Gly211Arg) rs182019900
NM_007077.4(AP4S1):c.348G>A (p.Met116Ile) rs74807133
NM_007103.3(NDUFV1):c.1163-12delC rs147787116
NM_007137.3(ZNF81):c.1495A>G (p.Ile499Val) rs182239885
NM_007137.3(ZNF81):c.470A>G (p.Asn157Ser) rs41312157
NM_007171.3(POMT1):c.1565G>A (p.Arg522Lys) rs117985576
NM_007171.3(POMT1):c.1611C>G (p.Ser537Arg) rs150367385
NM_007171.3(POMT1):c.1764C>T (p.Ser588=) rs150814269
NM_007208.3(MRPL3):c.931G>A (p.Gly311Ser) rs148679749
NM_007215.3(POLG2):c.122G>A (p.Gly41Glu) rs146504115
NM_007215.3(POLG2):c.674G>A (p.Arg225Gln) rs148101254
NM_007254.3(PNKP):c.1189-22_1189-19delTTGT rs368832563
NM_007254.3(PNKP):c.416G>A (p.Arg139His) rs34472250
NM_007254.3(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007254.3(PNKP):c.586T>A (p.Tyr196Asn) rs3739186
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.3(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_007347.4(AP4E1):c.1283A>G (p.Asn428Ser) rs116796602
NM_007347.4(AP4E1):c.2755A>G (p.Met919Val) rs115188375
NM_012082.3(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152
NM_012102.3(RERE):c.3146C>T (p.Pro1049Leu) rs878853011
NM_012123.3(MTO1):c.1086C>G (p.Ile362Met) rs147329295
NM_012160.4(FBXL4):c.1444C>T (p.Arg482Trp) rs398123061
NM_012188.4(FOXI1):c.308G>C (p.Gly103Ala) rs370450076
NM_012233.2(RAB3GAP1):c.1006C>T (p.Arg336Cys) rs150478342
NM_012280.3(FTSJ1):c.307C>G (p.Gln103Glu) rs78979358
NM_012330.3(KAT6B):c.3685A>G (p.Ser1229Gly) rs182978198
NM_012330.3(KAT6B):c.4097_4105delAAGAGGAAG (p.Glu1366_Glu1368del) rs375513122
NM_012330.3(KAT6B):c.4097_4105dupAAGAGGAAG (p.Glu1368_Gly1369insGluGluGlu) rs375513122
NM_012434.4(SLC17A5):c.1324G>A (p.Val442Ile) rs74360232
NM_012434.4(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_012452.2(TNFRSF13B):c.563A>T (p.Lys188Met) rs74811083
NM_012463.3(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060
NM_012463.3(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187
NM_012463.3(ATP6V0A2):c.2054G>A (p.Arg685Gln) rs7969410
NM_012472.5(LRRC6):c.914+13A>G rs113135637
NM_013227.3(ACAN):c.7075G>A (p.Val2359Ile) rs150555123
NM_013266.3(CTNNA3):c.1900G>A (p.Glu634Lys) rs77165728
NM_013275.5(ANKRD11):c.2175_2178delCAAA (p.Asn725Lysfs) rs886039734
NM_013275.5(ANKRD11):c.6106G>A (p.Asp2036Asn) rs201636725
NM_013275.5(ANKRD11):c.744+18C>G rs147328392
NM_013275.5(ANKRD11):c.7519C>A (p.Gln2507Lys) rs572878194
NM_013296.4(GPSM2):c.1820C>T (p.Ser607Phe) rs35322815
NM_013296.4(GPSM2):c.742delC (p.Gly249Glufs) rs528069912
NM_013314.3(BLNK):c.472G>T (p.Ala158Ser) rs148612299
NM_013339.4(ALG6):c.751A>G (p.Thr251Ala) rs61755863
NM_014008.4(CCDC22):c.1150C>T (p.Arg384Cys) rs143790434
NM_014008.4(CCDC22):c.1636G>A (p.Asp546Asn) rs147222955
NM_014009.3(FOXP3):c.543C>T (p.Ser181=) rs2232367
NM_014043.3(CHMP2B):c.560G>A (p.Ser187Asn) rs78268395
NM_014049.4(ACAD9):c.988A>C (p.Lys330Gln) rs79530903
NM_014080.4(DUOX2):c.2895_2898delGTTC (p.Phe966Serfs) rs530719719
NM_014141.5(CNTNAP2):c.1083G>A (p.Val361=) rs139180845
NM_014159.6(SETD2):c.2251C>A (p.Pro751Thr) rs115788094
NM_014159.6(SETD2):c.2543C>T (p.Ala848Val) rs75248784
NM_014165.3(NDUFAF4):c.40C>A (p.Leu14Ile) rs145392673
NM_014191.3(SCN8A):c.2098A>T (p.Ile700Leu) rs187153231
NM_014191.3(SCN8A):c.3148G>A (p.Gly1050Ser) rs202006479
NM_014244.4(ADAMTS2):c.1993G>A (p.Gly665Arg) rs35372714
NM_014252.3(SLC25A15):c.538G>A (p.Glu180Lys) rs104894424
NM_014254.2(RXYLT1):c.275C>T (p.Thr92Met) rs73122634
NM_014297.4(ETHE1):c.61G>T (p.Ala21Ser) rs116440799
NM_014324.5(AMACR):c.*753T>G rs140021599
NM_014324.5(AMACR):c.554T>C (p.Val185Ala) rs145786819
NM_014324.5(AMACR):c.782T>C (p.Met261Thr) rs3195678
NM_014336.4(AIPL1):c.1126C>T (p.Pro376Ser) rs61757484
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329
NM_014363.5(SACS):c.12649A>G (p.Asn4217Asp) rs35799469
NM_014363.5(SACS):c.4118C>T (p.Ala1373Val) rs61548169
NM_014363.5(SACS):c.8393C>A (p.Pro2798Gln) rs140551762
NM_014467.2(SRPX2):c.460C>G (p.His154Asp) rs73636611
NM_014491.3(FOXP2):c.618_620dupGCA (p.Gln209_Leu210insGln) rs111544687
NM_014639.3(TTC37):c.4187A>G (p.Asn1396Ser) rs116690692
NM_014646.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393
NM_014749.4(KIAA0586):c.94dup (p.His32Profs) rs555421894
NM_014780.4(CUL7):c.1027C>T (p.Pro343Ser) rs113845886
NM_014780.4(CUL7):c.1202G>A (p.Arg401Gln) rs73733791
NM_014780.4(CUL7):c.3490C>T (p.Arg1164Trp) rs201135654
NM_014780.4(CUL7):c.4762C>A (p.Leu1588Ile) rs147493246
NM_014795.3(ZEB2):c.10C>G (p.Pro4Ala) rs146394306
NM_014795.3(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836
NM_014795.3(ZEB2):c.2141C>T (p.Pro714Leu) rs112581563
NM_014795.3(ZEB2):c.2230A>G (p.Ile744Val) rs112005830
NM_014795.3(ZEB2):c.2255C>T (p.Thr752Met) rs143438888
NM_014795.3(ZEB2):c.3067+6A>T rs143450927
NM_014795.3(ZEB2):c.930C>T (p.Tyr310=) rs6711223
NM_014846.3(WASHC5):c.3319G>A (p.Val1107Met) rs138407503
NM_014874.3(MFN2):c.2205-13C>A rs76020240
NM_014874.3(MFN2):c.647T>C (p.Phe216Ser) rs387906990
NM_014908.3(DOLK):c.1dupA (p.Met1Asnfs) rs531969689
NM_014929.3(FASTKD2):c.-51+93A>G rs116297724
NM_014929.3(FASTKD2):c.1435G>T (p.Val479Leu) rs145043229
NM_014929.3(FASTKD2):c.149A>G (p.Lys50Arg) rs141447598
NM_014929.3(FASTKD2):c.2093C>T (p.Ala698Val) rs146554705
NM_014929.3(FASTKD2):c.29G>C (p.Ser10Thr) rs147727753
NM_014946.3(SPAST):c.131C>T (p.Ser44Leu) rs121908515
NM_014946.3(SPAST):c.879G>A (p.Pro293=) rs145264166
NM_014985.3(CEP152):c.1180A>G (p.Ile394Val) rs181295720
NM_014985.3(CEP152):c.3278G>A (p.Cys1093Tyr) rs74012142
NM_014985.3(CEP152):c.344G>A (p.Arg115Gln) rs188101277
NM_015046.5(SETX):c.2216G>A (p.Gly739Glu) rs36024203
NM_015046.5(SETX):c.7640T>C (p.Ile2547Thr) rs151117904
NM_015069.4(ZNF423):c.3140C>T (p.Ala1047Val) rs111229124
NM_015074.3(KIF1B):c.5294C>T (p.Pro1765Leu) rs61999305
NM_015100.3(POGZ):c.4089T>G (p.His1363Gln) rs142860188
NM_015102.4(NPHP4):c.1705C>G (p.Gln569Glu) rs113413307
NM_015102.4(NPHP4):c.2914A>G (p.Ser972Gly) rs187947581
NM_015102.4(NPHP4):c.511G>A (p.Ala171Thr) rs113765431
NM_015107.2(PHF8):c.2131G>A (p.Glu711Lys) rs41306749
NM_015107.2(PHF8):c.2720G>A (p.Arg907His) rs142630105
NM_015107.2(PHF8):c.2796_2798delCTC (p.Ser933del) rs782660284
NM_015120.4(ALMS1):c.10275G>C (p.Lys3425Asn) rs34398445
NM_015120.4(ALMS1):c.10631C>G (p.Thr3544Ser) rs45501594
NM_015120.4(ALMS1):c.10754A>T (p.Gln3585Leu) rs144486524
NM_015120.4(ALMS1):c.11875+18G>A rs139647347
NM_015120.4(ALMS1):c.1270G>A (p.Val424Ile) rs45630557
NM_015120.4(ALMS1):c.2419G>C (p.Val807Leu) rs138921247
NM_015120.4(ALMS1):c.3095C>G (p.Thr1032Ser) rs199922877
NM_015120.4(ALMS1):c.6010A>G (p.Ile2004Val) rs7587103
NM_015120.4(ALMS1):c.6467A>G (p.Asp2156Gly) rs58093963
NM_015120.4(ALMS1):c.6755A>G (p.Asp2252Gly) rs28730855
NM_015120.4(ALMS1):c.7271A>G (p.Asn2424Ser) rs75145370
NM_015120.4(ALMS1):c.72_77dupGGAGGA (p.Glu29_Ala30insGluGlu) rs55889738
NM_015120.4(ALMS1):c.75_77delGGA (p.Glu29del) rs55889738
NM_015120.4(ALMS1):c.8838C>G (p.Asn2946Lys) rs35062203
NM_015192.3(PLCB1):c.2191C>G (p.Pro731Ala) rs61755434
NM_015192.3(PLCB1):c.3116T>C (p.Ile1039Thr) rs75820839
NM_015192.3(PLCB1):c.458A>T (p.Glu153Val) rs45496299
NM_015272.4(RPGRIP1L):c.1165A>G (p.Ile389Val) rs79708859
NM_015272.4(RPGRIP1L):c.1340T>C (p.Leu447Ser) rs138155747
NM_015272.4(RPGRIP1L):c.2643T>A (p.Asn881Lys) rs139503476
NM_015284.3(SZT2):c.4360G>A (p.Val1454Ile) rs76675748
NM_015284.3(SZT2):c.7391T>C (p.Val2464Ala) rs150113647
NM_015284.3(SZT2):c.7402G>A (p.Val2468Ile) rs139486476
NM_015311.2(OBSL1):c.3649G>A (p.Glu1217Lys) rs72957510
NM_015311.2(OBSL1):c.3950T>A (p.Leu1317Gln) rs115283876
NM_015311.2(OBSL1):c.4192G>A (p.Val1398Ile) rs147543583
NM_015335.4(MED13L):c.1283A>G (p.His428Arg) rs144410580
NM_015335.4(MED13L):c.3512A>G (p.Lys1171Arg) rs147863200
NM_015335.4(MED13L):c.4744T>A (p.Ser1582Thr) rs150222863
NM_015338.5(ASXL1):c.2395G>T (p.Asp799Tyr) rs143594454
NM_015346.3(ZFYVE26):c.2887G>C (p.Val963Leu) rs116890187
NM_015386.2(COG4):c.1759C>A (p.Gln587Lys) rs113455884
NM_015404.3(WHRN):c.229A>T (p.Thr77Ser) rs56204273
NM_015506.2(MMACHC):c.178G>C (p.Asp60His) rs6662272
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015559.3(SETBP1):c.4640C>A (p.Thr1547Asn) rs201973930
NM_015570.3(AUTS2):c.3398_3400dupACC (p.His1133_Pro1134insHis) rs538005366
NM_015631.5(TCTN3):c.1030G>A (p.Gly344Arg) rs141088838
NM_015631.5(TCTN3):c.224C>T (p.Ala75Val) rs41291570
NM_015697.8(COQ2):c.344A>C (p.Asp115Ala) rs375934957
NM_015697.8(COQ2):c.574A>G (p.Thr192Ala) rs144913206
NM_015697.8(COQ2):c.587A>G (p.Asn196Ser) rs150295921
NM_015702.2(MMADHC):c.473G>A (p.Arg158Gln) rs114276563
NM_015702.2(MMADHC):c.87A>C (p.Lys29Asn) rs61750442
NM_015910.6(WDPCP):c.1333G>C (p.Ala445Pro) rs61734466
NM_015910.6(WDPCP):c.2063A>G (p.Asn688Ser) rs61734468
NM_015910.6(WDPCP):c.68C>A (p.Pro23Gln) rs141340867
NM_015910.6(WDPCP):c.985G>A (p.Val329Met) rs199959383
NM_015937.5(PIGT):c.367G>T (p.Val123Leu) rs141420243
NM_016013.3(NDUFAF1):c.708G>A (p.Met236Ile) rs150539399
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948
NM_016097.4(IER3IP1):c.170G>A (p.Arg57Gln) rs149009126
NM_016169.3(SUFU):c.1018G>T (p.Ala340Ser) rs34135067
NM_016219.4(MAN1B1):c.1429G>A (p.Gly477Arg) rs75639549
NM_016219.4(MAN1B1):c.1433A>G (p.Lys478Arg) rs138658585
NM_016219.4(MAN1B1):c.337T>C (p.Phe113Leu) rs147529965
NM_016219.4(MAN1B1):c.602C>T (p.Pro201Leu) rs73569515
NM_016219.4(MAN1B1):c.794G>A (p.Arg265His) rs114057640
NM_016239.3(MYO15A):c.2238G>T (p.Arg746Ser) rs79760961
NM_016239.3(MYO15A):c.9478C>T (p.Leu3160Phe) rs140029076
NM_016302.3(CRBN):c.88G>A (p.Glu30Lys) rs78564552
NM_016335.4(PRODH):c.1322T>C (p.Leu441Pro) rs2904551
NM_016373.3(WWOX):c.1141C>T (p.Arg381Cys) rs200461412
NM_016373.3(WWOX):c.358C>T (p.Arg120Trp) rs141361080
NM_016373.3(WWOX):c.613C>A (p.His205Asn) rs74860463
NM_016373.3(WWOX):c.816G>T (p.Leu272Phe) rs186745328
NM_016373.3(WWOX):c.835C>T (p.Arg279Cys) rs77314072
NM_016513.4(ICK):c.831+5delT rs200780900
NM_016579.3(CD320):c.262_264delGAG (p.Glu88del) rs150384171
NM_016725.2(FOLR1):c.493+2T>C rs144637717
NM_017433.4(MYO3A):c.4465A>G (p.Ile1489Val) rs147376000
NM_017534.5(MYH2):c.5780G>A (p.Arg1927Gln) rs34161789
NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn) rs191357265
NM_017636.3(TRPM4):c.2531G>A (p.Gly844Asp) rs200038418
NM_017636.3(TRPM4):c.2740A>T (p.Lys914Ter) rs140799936
NM_017651.4(AHI1):c.-55+1G>T rs145372075
NM_017651.4(AHI1):c.1152-11T>G rs113317693
NM_017651.4(AHI1):c.3053A>C (p.Gln1018Pro) rs6940875
NM_017651.4(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_017651.4(AHI1):c.3368C>T rs117447608
NM_017651.4(AHI1):c.653A>G (p.Tyr218Cys) rs183936286
NM_017651.4(AHI1):c.724C>T (p.Pro242Ser) rs143522987
NM_017721.4(CC2D1A):c.1234A>G (p.Ile412Val) rs191830054
NM_017721.4(CC2D1A):c.1739C>T (p.Thr580Ile) rs202057391
NM_017721.4(CC2D1A):c.2440G>T (p.Ala814Ser) rs56359259
NM_017721.4(CC2D1A):c.905G>A (p.Arg302Gln) rs73922801
NM_017721.4(CC2D1A):c.980C>T (p.Ser327Leu) rs200121704
NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869
NM_017745.5(BCOR):c.2203A>G (p.Ile735Val) rs768557634
NM_017755.5(NSUN2):c.2143G>A (p.Val715Ile) rs112951498
NM_017755.5(NSUN2):c.2300G>A (p.Arg767Gln) rs140673211
NM_017777.3(MKS1):c.1388G>A (p.Arg463Gln) rs201619500
NM_017777.3(MKS1):c.1436G>A (p.Arg479His) rs111315726
NM_017777.3(MKS1):c.213C>G (p.Asp71Glu) rs142813109
NM_017780.3(CHD7):c.1018A>G (p.Met340Val) rs41305525
NM_017780.3(CHD7):c.2053_2058dupGCAAAA (p.Lys686_Thr687insAlaLys) rs377139749
NM_017780.3(CHD7):c.2377-3dupT rs752271550
NM_017780.3(CHD7):c.2436A>T (p.Lys812Asn) rs61978638
NM_017780.3(CHD7):c.4534-13T>G rs114996731
NM_017780.3(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820
NM_017802.3(DNAAF5):c.1024+11G>T rs201554395
NM_017827.3(SARS2):c.393+149delA rs375344827
NM_017837.3(PIGV):c.615C>T (p.Asn205=) rs34512715
NM_017838.3(NHP2):c.302G>A (p.Arg101Gln) rs145890370
NM_017866.5(TMEM70):c.684C>G (p.Asn228Lys) rs35564486
NM_017890.4(VPS13B):c.10124C>T (p.Thr3375Ile) rs138127778
NM_017890.4(VPS13B):c.10310C>T (p.Ala3437Val) rs112045467
NM_017890.4(VPS13B):c.1559A>G (p.His520Arg) rs143205296
NM_017890.4(VPS13B):c.2275G>C (p.Val759Leu) rs140848350
NM_017890.4(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721
NM_017890.4(VPS13B):c.2596G>A (p.Val866Ile) rs150185067
NM_017890.4(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722
NM_017890.4(VPS13B):c.4247G>A (p.Arg1416Gln) rs75933366
NM_017890.4(VPS13B):c.5576C>T (p.Ser1859Leu) rs144257406
NM_017890.4(VPS13B):c.7052G>A (p.Arg2351Gln) rs61754113
NM_017890.4(VPS13B):c.7753G>A (p.Glu2585Lys) rs111751379
NM_017890.4(VPS13B):c.8978A>G (p.Asn2993Ser) rs28940272
NM_017929.5(PEX26):c.130C>T (p.Leu44Phe) rs150895887
NM_017929.5(PEX26):c.728C>T (p.Ala243Val) rs149153003
NM_017950.3(CCDC40):c.856-18G>A rs189118723
NM_018013.3(SOBP):c.1615A>G (p.Ile539Val) rs146747167
NM_018013.3(SOBP):c.2250_2252del (p.Pro751del) rs541688197
NM_018026.3(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018062.3(FANCL):c.112C>T (p.Leu38Phe) rs55849827
NM_018062.3(FANCL):c.670A>G (p.Thr224Ala) rs149731356
NM_018100.3(EFHC1):c.1069G>A (p.Glu357Lys) rs505760
NM_018100.3(EFHC1):c.229C>A (p.Pro77Thr) rs149055334
NM_018100.3(EFHC1):c.475C>G (p.Arg159Gly) rs3804506
NM_018100.3(EFHC1):c.629A>T (p.Asp210Val) rs73740379
NM_018100.3(EFHC1):c.662G>A (p.Arg221His) rs79761183
NM_018100.3(EFHC1):c.685T>C (p.Phe229Leu) rs137852776
NM_018122.5(DARS2):c.1642C>A (p.Leu548Met) rs149660059
NM_018127.6(ELAC2):c.560-2A>G rs149733287
NM_018136.4(ASPM):c.1288A>G (p.Arg430Gly) rs6428388
NM_018136.4(ASPM):c.223G>A (p.Ala75Thr) rs61995747
NM_018136.4(ASPM):c.4213C>T (p.Arg1405Cys) rs139367209
NM_018136.4(ASPM):c.5063C>T (p.Thr1688Ile) rs62624968
NM_018136.4(ASPM):c.5579C>T (p.Ala1860Val) rs77138363
NM_018136.4(ASPM):c.5741A>G (p.Gln1914Arg) rs113325473
NM_018136.4(ASPM):c.5821T>C (p.Cys1941Arg) rs61249253
NM_018136.4(ASPM):c.6727G>T (p.Val2243Leu) rs148425392
NM_018136.4(ASPM):c.7787T>C (p.Val2596Ala) rs79572771
NM_018136.4(ASPM):c.9773A>G (p.His3258Arg) rs7528827
NM_018139.2(DNAAF2):c.1367C>T (p.Pro456Leu) rs137991407
NM_018328.4(MBD5):c.3044A>G (p.Gln1015Arg) rs143028540
NM_018328.4(MBD5):c.3310A>G (p.Ile1104Val) rs115940994
NM_018341.2(ERMARD):c.1162A>G (p.Asn388Asp) rs151283330
NM_018389.4(SLC35C1):c.503_505delTCT (p.Phe168del) rs587777655
NM_018451.4(CENPJ):c.287A>G (p.His96Arg) rs61739263
NM_018486.2(HDAC8):c.416G>C (p.Gly139Ala) rs878853048
NM_018648.3(NOP10):c.34G>C (p.Asp12His) rs146261631
NM_018684.3(ZC4H2):c.199C>T (p.Arg67Ter) rs1131691616
NM_018714.2(COG1):c.1712G>A (p.Arg571Gln) rs141750466
NM_018714.2(COG1):c.2620-10T>G rs144989249
NM_018714.2(COG1):c.401C>T (p.Ser134Leu) rs146066919
NM_018714.2(COG1):c.903G>C (p.Gln301His) rs117208167
NM_018718.2(CEP41):c.1009T>C (p.Ser337Pro) rs147444165
NM_018718.2(CEP41):c.422+7G>A rs190680511
NM_018718.2(CEP41):c.718T>G (p.Cys240Gly) rs113941736
NM_018848.3(MKKS):c.724G>T (p.Ala242Ser) rs74315394
NM_018849.2(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619
NM_018941.3(CLN8):c.274C>T (p.His92Tyr) rs34030778
NM_018941.3(CLN8):c.685C>G (p.Pro229Ala) rs150047904
NM_018943.2(TUBA8):c.250C>T (p.Arg84Cys) rs115847686
NM_018965.3(TREM2):c.185G>A (p.Arg62His) rs143332484
NM_018965.3(TREM2):c.287C>A (p.Thr96Lys) rs2234253
NM_018965.3(TREM2):c.469C>T (p.His157Tyr) rs2234255
NM_019066.4(MAGEL2):c.1079C>T (p.Ala360Val) rs111759069
NM_019066.4(MAGEL2):c.2074G>A (p.Val692Ile) rs200926181
NM_019066.4(MAGEL2):c.2281G>C (p.Ala761Pro) rs146970674
NM_019066.4(MAGEL2):c.2611G>T (p.Ala871Ser) rs2233066
NM_019066.4(MAGEL2):c.2612C>T (p.Ala871Val) rs74004212
NM_019066.4(MAGEL2):c.3017C>G (p.Thr1006Ser) rs138628273
NM_019105.6(TNXB):c.6811G>C (p.Val2271Leu) rs140770834
NM_019105.6(TNXB):c.7168+19C>A rs11752495
NM_019105.6(TNXB):c.7297G>A (p.Val2433Ile) rs17207902
NM_019105.6(TNXB):c.8132T>C (p.Ile2711Thr) rs28361051
NM_019109.4(ALG1):c.554T>G (p.Phe185Cys) rs112668461
NM_019109.4(ALG1):c.773C>T (p.Ser258Leu) rs28939378
NM_020166.4(MCCC1):c.137G>A (p.Gly46Glu) rs199517715
NM_020166.4(MCCC1):c.974T>G (p.Met325Arg) rs119103212
NM_020191.2(MRPS22):c.283A>C (p.Ile95Leu) rs73866065
NM_020223.3(FAM20C):c.1681G>A (p.Val561Met) rs145750007
NM_020247.4(COQ8A):c.238C>T (p.His80Tyr) rs76249490
NM_020312.3(COQ9):c.864G>C (p.Lys288Asn) rs61730662
NM_020365.4(EIF2B3):c.975+9A>G rs79174967
NM_020435.3(GJC2):c.108C>T (p.Ile36=) rs75469429
NM_020435.3(GJC2):c.947C>T (p.Pro316Leu) rs760502262
NM_020458.3(TTC7A):c.1129C>G (p.Gln377Glu) rs117304542
NM_020458.3(TTC7A):c.1817A>G (p.Lys606Arg) rs139010200
NM_020458.3(TTC7A):c.2014T>C (p.Ser672Pro) rs149602485
NM_020549.4(CHAT):c.1682G>A (p.Arg561Gln) rs80097077
NM_020549.4(CHAT):c.896C>T (p.Pro299Leu) rs868749
NM_020630.4(RET):c.200G>A (p.Arg67His) rs192489011
NM_020630.5(RET):c.874G>A (p.Val292Met) rs34682185
NM_020631.4(PLEKHG5):c.1932T>C (p.Pro644=) rs150807400
NM_020631.4(PLEKHG5):c.2594A>G (p.Gln865Arg) rs3007419
NM_020686.5(ABAT):c.55C>T (p.Arg19Cys) rs77696190
NM_020686.5(ABAT):c.603+3G>A rs41312254
NM_020699.3(GATAD2B):c.1469C>T (p.Ala490Val) rs145131801
NM_020699.3(GATAD2B):c.676C>G (p.Pro226Ala) rs115193744
NM_020705.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728
NM_020708.4(SLC12A5):c.1189A>T (p.Thr397Ser) rs34058554
NM_020717.3(SHROOM4):c.4066G>A (p.Val1356Ile) rs137923286
NM_020717.3(SHROOM4):c.436C>T (p.Arg146Trp) rs189694750
NM_020732.3(ARID1B):c.1069_1071dup (p.Gly357_Tyr358insGly) rs797045268
NM_020732.3(ARID1B):c.2896G>A (p.Gly966Ser) rs34786733
NM_020732.3(ARID1B):c.3025+6C>T rs148976215
NM_020742.3(NLGN4X):c.897A>G (p.Ile299Met) rs151073358
NM_020745.3(AARS2):c.1196A>G (p.Asn399Ser) rs113433939
NM_020745.3(AARS2):c.2629C>T (p.Arg877Trp) rs112247130
NM_020751.2(COG6):c.898C>T (p.His300Tyr) rs34555836
NM_020754.3(ARHGAP31):c.2344C>A (p.Pro782Thr) rs139659618
NM_020754.3(ARHGAP31):c.820C>T (p.Pro274Ser) rs139600783
NM_020800.2(IFT80):c.1076C>T (p.Ser359Phe) rs144099135
NM_020806.4(GPHN):c.127G>T (p.Val43Leu) rs117256383
NM_020822.2(KCNT1):c.2943+6C>T rs28612938
NM_020822.2(KCNT1):c.3239G>T (p.Gly1080Val) rs200250181
NM_020822.2(KCNT1):c.3295C>T (p.Pro1099Ser) rs200642629
NM_020822.2(KCNT1):c.3388G>A (p.Ala1130Thr) rs138421850
NM_020822.2(KCNT1):c.522G>A (p.Met174Ile) rs147551342
NM_020822.2(KCNT1):c.59G>C (p.Gly20Ala) rs146292575
NM_020921.3(NIN):c.264A>T (p.Pro88=) rs61755037
NM_020964.2(EPG5):c.2063T>C (p.Phe688Ser) rs61978576
NM_020964.2(EPG5):c.299C>T (p.Thr100Ile) rs200530606
NM_020964.2(EPG5):c.4039A>C (p.Asn1347His) rs144860976
NM_020975.4(RET):c.1264-5C>T rs9282835
NM_020975.4(RET):c.1946C>T (p.Ser649Leu) rs148935214
NM_020975.4(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_021007.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980
NM_021007.2(SCN2A):c.4877G>A (p.Arg1626Gln) rs796053155
NM_021072.3(HCN1):c.215_223delGCGGCGGCG (p.Gly72_Gly74del) rs747975797
NM_021072.3(HCN1):c.218_223delGCGGCG (p.Gly73_Gly74del) rs747975797
NM_021098.2(CACNA1H):c.2759C>T (p.Thr920Met) rs59052554
NM_021098.2(CACNA1H):c.3206G>A (p.Arg1069Gln) rs57633676
NM_021098.2(CACNA1H):c.4817C>T (p.Thr1606Met) rs59286323
NM_021098.2(CACNA1H):c.5113G>A (p.Ala1705Thr) rs148651456
NM_021098.2(CACNA1H):c.5173+10C>T rs72554026
NM_021120.3(DLG3):c.1405+5_1405+7del rs797045525
NM_021147.4(CCNO):c.940G>A (p.Glu314Lys) rs114088695
NM_021150.3(GRIP1):c.964G>A (p.Ala322Thr) rs17102531
NM_021625.4(TRPV4):c.1684G>A (p.Val562Ile) rs56177950
NM_021625.4(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855
NM_021625.4(TRPV4):c.649G>T (p.Ala217Ser) rs187864727
NM_021939.3(FKBP10):c.1400-4C>G rs114199361
NM_021991.3(JUP):c.1942G>A (p.Val648Ile) rs143043662
NM_022041.3(GAN):c.1684C>G (p.Pro562Ala) rs79901179
NM_022068.3(PIEZO2):c.6191G>C (p.Arg2064Thr) rs79992793
NM_022095.3(ZNF335):c.1963C>T (p.Pro655Ser) rs117132825
NM_022114.3(PRDM16):c.553A>G (p.Met185Val) rs376567517
NM_022124.5(CDH23):c.1096G>A (p.Ala366Thr) rs143282422
NM_022124.5(CDH23):c.7630T>C (p.Leu2544=) rs114819374
NM_022132.4(MCCC2):c.599T>A (p.Ile200Asn) rs140806722
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) rs35744605
NM_022369.3(STRA6):c.1771G>A (p.Ala591Thr) rs115331762
NM_022445.3(TPK1):c.98G>A (p.Arg33His) rs77358162
NM_022464.4(SIL1):c.239A>G (p.Gln80Arg) rs35581768
NM_022464.4(SIL1):c.368C>T (p.Thr123Ile) rs115800498
NM_022726.3(ELOVL4):c.814G>C (p.Glu272Gln) rs148919174
NM_022835.2(PLEKHG2):c.1708G>A (p.Gly570Arg) rs370673772
NM_023073.3(CPLANE1):c.5314A>G (p.Ser1772Gly) rs79377186
NM_023073.3(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666
NM_023073.3(CPLANE1):c.8796+4A>C rs199810663
NM_023110.2(FGFR1):c.2314C>T (p.Pro772Ser) rs56234888
NM_023110.2(FGFR1):c.899T>C (p.Ile300Thr) rs121909633
NM_024301.4(FKRP):c.235G>A (p.Val79Met) rs104894683
NM_024306.4(FA2H):c.338G>A (p.Arg113Gln) rs147632811
NM_024312.4(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709
NM_024312.4(GNPTAB):c.2611G>A (p.Gly871Ser) rs56212569
NM_024312.4(GNPTAB):c.3503_3504delTC (p.Leu1168Glnfs) rs34002892
NM_024408.3(NOTCH2):c.3625T>G (p.Phe1209Val) rs147223770
NM_024408.3(NOTCH2):c.4238T>A (p.Leu1413His) rs41313282
NM_024531.4(SLC52A2):c.935T>C (p.Leu312Pro) rs754320812
NM_024537.3(CARS2):c.1624-12C>G rs115116722
NM_024570.3(RNASEH2B):c.859G>T (p.Ala287Ser) rs144408326
NM_024582.4(FAT4):c.10804A>C (p.Ile3602Leu) rs76491994
NM_024582.4(FAT4):c.14657C>G (p.Ala4886Gly) rs35340865
NM_024582.4(FAT4):c.14660G>A (p.Arg4887Lys) rs35845544
NM_024589.2(ROGDI):c.117+10C>G rs113858060
NM_024589.2(ROGDI):c.713G>A (p.Arg238His) rs138409264
NM_024592.4(SRD5A3):c.925C>G (p.His309Asp) rs61733673
NM_024596.4(MCPH1):c.1738A>G (p.Ser580Gly) rs17076894
NM_024649.4(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.4(BBS1):c.700G>A (p.Glu234Lys) rs35520756
NM_024675.3(PALB2):c.2590C>T (p.Pro864Ser) rs45568339
NM_024675.3(PALB2):c.2794G>A (p.Val932Met) rs45624036
NM_024675.3(PALB2):c.53A>G (p.Lys18Arg) rs138789658
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser) rs34737974
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279
NM_024729.3(MYH14):c.1126G>T (p.Gly376Cys) rs119103280
NM_024729.3(MYH14):c.1181A>G (p.Asn394Ser) rs537153044
NM_024729.3(MYH14):c.802A>G (p.Ile268Val) rs55645295
NM_024740.2(ALG9):c.1383C>T (p.Thr461=) rs45516107
NM_024740.2(ALG9):c.1604T>G (p.Ile535Ser) rs12575909
NM_024740.2(ALG9):c.764C>T (p.Ser255Leu) rs17113312
NM_024747.5(HPS6):c.398C>T (p.Ala133Val) rs199816481
NM_024753.4(TTC21B):c.1387C>T (p.Pro463Ser) rs16851307
NM_024753.4(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725
NM_024757.4(EHMT1):c.3011G>A (p.Ser1004Asn) rs138283222
NM_024757.4(EHMT1):c.316C>G (p.Gln106Glu) rs144603232
NM_024757.4(EHMT1):c.3180+10G>A rs113676865
NM_024757.4(EHMT1):c.526C>T (p.Pro176Ser) rs34704821
NM_024809.4(TCTN2):c.1585C>G (p.Leu529Val) rs113301547
NM_024989.3(PGAP1):c.1753C>G (p.Gln585Glu) rs62185645
NM_024996.5(GFM1):c.476A>G (p.Asn159Ser) rs34297061
NM_024996.5(GFM1):c.568A>C (p.Met190Leu) rs75450876
NM_025000.3(DCAF17):c.127-15C>A rs146556466
NM_025074.6(FRAS1):c.109-15delT rs548267943
NM_025074.6(FRAS1):c.776T>G (p.Leu259Arg) rs148509395
NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter) rs745597204
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr) rs78870822
NM_025114.3(CEP290):c.1825-13_1825-12delCT rs367600498
NM_025114.3(CEP290):c.2484-8_2484-4dupGTTTT rs745522483
NM_025114.3(CEP290):c.251-11T>A rs200666995
NM_025114.3(CEP290):c.2980G>A (p.Glu994Lys) rs182369459
NM_025114.3(CEP290):c.4102G>A (p.Asp1368Asn) rs184143186
NM_025114.3(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.3(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020
NM_025114.3(CEP290):c.5506A>G (p.Ile1836Val) rs11104729
NM_025114.3(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025
NM_025114.3(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467
NM_025137.3(SPG11):c.258-6delT rs373234269
NM_025137.3(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165
NM_025137.3(SPG11):c.4687A>G (p.Arg1563Gly) rs75430389
NM_025137.3(SPG11):c.4923G>C (p.Lys1641Asn) rs150218102
NM_025137.3(SPG11):c.6319G>A (p.Val2107Ile) rs115970214
NM_025137.3(SPG11):c.6759C>G (p.Asp2253Glu) rs141818132
NM_025137.3(SPG11):c.7256A>G (p.Lys2419Arg) rs76116949
NM_025150.4(TARS2):c.1034A>G (p.His345Arg) rs115390773
NM_025152.2(NUBPL):c.545T>C (p.Val182Ala) rs61752327
NM_025152.2(NUBPL):c.815-27T>C rs118161496
NM_025243.3(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444
NM_025265.3(TSEN2):c.272-4C>G rs41293385
NM_030582.3(COL18A1):c.56C>T (p.Ala19Val) rs7277693
NM_030662.3(MAP2K2):c.580+6G>A rs201435249
NM_030665.3(RAI1):c.1775G>A (p.Arg592Gln) rs141808855
NM_030665.3(RAI1):c.3781_3783delGAG (p.Glu1261del) rs149716029
NM_030665.3(RAI1):c.4693G>A (p.Val1565Met) rs368106957
NM_030665.3(RAI1):c.5036C>T (p.Ala1679Val) rs142981643
NM_030665.3(RAI1):c.610C>T (p.Pro204Ser) rs138332224
NM_030665.3(RAI1):c.725C>T (p.Pro242Leu) rs150563155
NM_030665.3(RAI1):c.864_872delGCAGCAGCA (p.Gln289_Gln291del) rs371983878
NM_030928.3(CDT1):c.1385G>A (p.Arg462Gln) rs387906917
NM_030962.3(SBF2):c.2323G>A (p.Gly775Ser) rs141330687
NM_030962.3(SBF2):c.513+17G>C rs73410819
NM_031407.6(HUWE1):c.5716+5G>A rs139135300
NM_031407.6(HUWE1):c.6031-4T>A rs139283158
NM_031466.7(TRAPPC9):c.3091G>A (p.Gly1031Ser) rs114949291
NM_031475.2(ESPN):c.1104T>G (p.Phe368Leu) rs142638391
NM_031475.2(ESPN):c.1709C>T (p.Pro570Leu) rs527968078
NM_031885.3(BBS2):c.1659+3A>G rs6499838
NM_031885.3(BBS2):c.1864C>T (p.Arg622Ter) rs201196733
NM_031885.3(BBS2):c.805-20A>G rs41280892
NM_032043.2(BRIP1):c.1433A>G (p.His478Arg) rs45501097
NM_032119.3(ADGRV1):c.10936T>C (p.Ser3646Pro) rs13171868
NM_032119.3(ADGRV1):c.12592G>A (p.Val4198Met) rs2460169
NM_032119.3(ADGRV1):c.1839+7G>A rs142011700
NM_032119.3(ADGRV1):c.3559A>G (p.Ile1187Val) rs16868935
NM_032119.3(ADGRV1):c.5747C>T (p.Thr1916Ile) rs35791889
NM_032119.3(ADGRV1):c.5830G>A (p.Asp1944Asn) rs41302834
NM_032119.3(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846
NM_032119.3(ADGRV1):c.7079G>A (p.Arg2360His) rs111033470
NM_032119.3(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344
NM_032119.3(ADGRV1):c.7813T>G (p.Leu2605Val) rs79915053
NM_032119.3(ADGRV1):c.9607T>A (p.Ser3203Thr) rs116480183
NM_032119.4(ADGRV1):c.10769+9A>G rs116184119
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln) rs202190568
NM_032119.4(ADGRV1):c.12269C>A (p.Thr4090Asn) rs199839743
NM_032119.4(ADGRV1):c.1652T>C (p.Val551Ala) rs6889939
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu) rs41303350
NM_032119.4(ADGRV1):c.6095C>T (p.Ala2032Val) rs142013761
NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His) rs201214794
NM_032119.4(ADGRV1):c.7945+6C>T rs139278305
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val) rs41308297
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750
NM_032121.5(MAGT1):c.67G>A (p.Val23Ile) rs182757967
NM_032382.4(COG8):c.1591C>T (p.Pro531Ser) rs76253513
NM_032444.2(SLX4):c.5501A>G (p.Asn1834Ser) rs111738042
NM_032444.3(SLX4):c.2746G>T (p.Ala916Ser) rs79448721
NM_032444.3(SLX4):c.2824G>C (p.Glu942Gln) rs114014006
NM_032444.3(SLX4):c.4115G>A (p.Arg1372Gln) rs79174372
NM_032444.3(SLX4):c.4648C>T (p.Arg1550Trp) rs77021998
NM_032444.3(SLX4):c.5029C>T (p.Pro1677Ser) rs7196345
NM_032444.3(SLX4):c.5281C>T (p.Arg1761Cys) rs143818824
NM_032444.3(SLX4):c.710G>A (p.Arg237Gln) rs138615800
NM_032444.3(SLX4):c.718A>G (p.Asn240Asp) rs114744903
NM_032551.4(KISS1R):c.565G>A (p.Ala189Thr) rs73507527
NM_032578.3(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730
NM_032634.3(PIGO):c.461C>A (p.Ala154Asp) rs142562923
NM_032645.4(RAPSN):c.264C>A (p.Asn88Lys) rs104894299
NM_032667.6(BSCL2):c.653C>T (p.Ala218Val) rs185341934
NM_032682.5(FOXP1):c.1702C>T (p.Pro568Ser) rs147674680
NM_032806.5(POMGNT2):c.364G>A (p.Val122Met) rs149948290
NM_032861.3(SERAC1):c.89T>C (p.Ile30Thr) rs34270473
NM_032977.3(CASP10):c.1216A>T (p.Ile406Leu) rs80358239
NM_033028.4(BBS4):c.137A>G (p.Lys46Arg) rs75295839
NM_033056.3(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363
NM_033056.3(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387
NM_033056.3(PCDH15):c.5601_5603delAAC (p.Thr1869del) rs113363047
NM_033071.3(SYNE1):c.13423G>A (p.Val4475Ile) rs4870093
NM_033071.3(SYNE1):c.1985A>G (p.Gln662Arg) rs9397509
NM_033071.3(SYNE1):c.23102G>A (p.Arg7701Gln) rs138787771
NM_033071.3(SYNE1):c.8185G>A (p.Val2729Ile) rs151091241
NM_033084.4(FANCD2):c.195G>C (p.Gln65His) rs36084488
NM_033084.4(FANCD2):c.3446C>T (p.Ala1149Val) rs147675860
NM_033084.4(FANCD2):c.378-6_378-5del rs55973240
NM_033084.4(FANCD2):c.577A>G (p.Thr193Ala) rs34936017
NM_033084.4(FANCD2):c.983G>A (p.Arg328Gln) rs35625434
NM_033087.3(ALG2):c.17G>C (p.Gly6Ala) rs180849348
NM_033087.3(ALG2):c.30C>G (p.Asp10Glu) rs7023652
NM_033109.4(PNPT1):c.944A>G (p.Lys315Arg) rs35405862
NM_033290.3(MID1):c.661-8_661-7dupTT rs375668839
NM_033337.2(CAV3):c.166G>A (p.Gly56Ser) rs72546667
NM_033380.2(COL4A5):c.3148C>T (p.Pro1050Ser) rs143945573
NM_033409.3(SLC52A3):c.1048T>A (p.Leu350Met) rs76947760
NM_033453.3(ITPA):c.278A>G (p.Glu93Gly) rs34982958
NM_033517.1(SHANK3):c.1803G>A (p.Thr601=) rs73892912
NM_033629.5(TREX1):c.797A>G (p.Glu266Gly) rs55999987
NM_033641.3(COL4A6):c.2653G>T (p.Val885Phe) rs112034997
NM_052865.3(MGME1):c.794C>T (p.Thr265Ile) rs76599088
NM_052865.3(MGME1):c.86C>G (p.Ser29Cys) rs143811282
NM_052985.3(IFT122):c.1426C>T (p.Arg476Trp) rs61744639
NM_058216.2(RAD51C):c.859A>G (p.Thr287Ala) rs28363317
NM_080669.5(SLC46A1):c.1366C>T (p.Pro456Ser) rs186143284
NM_080680.2(COL11A2):c.2017-5T>G rs200523422
NM_080680.2(COL11A2):c.2336C>T (p.Pro779Leu) rs150877886
NM_080680.2(COL11A2):c.5000G>A (p.Arg1667His) rs146555195
NM_080877.2(SLC34A3):c.448+1G>A rs150841256
NM_130797.3(DPP6):c.227A>T (p.Asp76Val) rs572667303
NM_130837.2(OPA1):c.113_130delGAAGCATTTATCATTCAC (p.Arg38_Ser43del) rs863224140
NM_130849.3(SLC39A4):c.850G>A (p.Glu284Lys) rs7823979
NM_133259.3(LRPPRC):c.1432A>G (p.Thr478Ala) rs35035668
NM_133259.3(LRPPRC):c.3595A>G (p.Asn1199Asp) rs113974315
NM_133378.4(TTN):c.10088G>A (p.Arg3363His) rs148169214
NM_133378.4(TTN):c.13316A>G (p.Tyr4439Cys) rs72648942
NM_133378.4(TTN):c.14593A>G (p.Lys4865Glu) rs73973139
NM_133378.4(TTN):c.15418C>A (p.Pro5140Thr) rs72648953
NM_133378.4(TTN):c.4739C>T (p.Thr1580Met) rs73973147
NM_133378.4(TTN):c.6727G>T (p.Asp2243Tyr) rs138787974
NM_133378.4(TTN):c.90056G>A (p.Arg30019His) rs55704830
NM_133378.4(TTN):c.90590C>G (p.Ala30197Gly) rs72648273
NM_133378.4(TTN):c.90686A>G (p.Asn30229Ser) rs149001703
NM_133433.3(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861
NM_133433.3(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374
NM_133433.3(NIPBL):c.535G>A (p.Ala179Thr) rs142923613
NM_133433.3(NIPBL):c.6109-3T>C rs145778995
NM_133459.3(CCBE1):c.123C>A (p.Asp41Glu) rs80008675
NM_133499.2(SYN1):c.1699A>G (p.Thr567Ala) rs200533370
NM_133645.2(MTO1):c.1505G>A (p.Arg502His) rs201544686
NM_133647.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001
NM_138361.5(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300
NM_138477.4(CDAN1):c.2836C>T (p.Arg946Trp) rs114779238
NM_138694.3(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792
NM_138694.3(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.3(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643
NM_138694.3(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851
NM_138694.3(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726
NM_138694.3(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571
NM_138694.3(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476
NM_138694.3(PKHD1):c.6333-8_6333-7delTT rs138161138
NM_138694.3(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261
NM_138694.3(PKHD1):c.9577G>A (p.Val3193Ile) rs35445653
NM_139025.4(ADAMTS13):c.3287G>A (p.Arg1096His) rs61751476
NM_139242.3(MTFMT):c.16C>T (p.Arg6Trp) rs199599204
NM_139242.3(MTFMT):c.626C>T (p.Ser209Leu) rs201431517
NM_139276.2(STAT3):c.2147C>T (p.Thr716Met) rs869312892
NM_139343.2(BIN1):c.696C>A (p.Asn232Lys) rs143820618
NM_144612.6(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005
NM_144612.6(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197
NM_144672.4(OTOA):c.236G>A (p.Arg79Gln) rs147088274
NM_144966.5(FREM1):c.2169+11A>C rs377670533
NM_144988.3(ALG14):c.31G>A (p.Ala11Thr) rs34364382
NM_145046.4(CALR3):c.850G>A (p.Asp284Asn) rs10404156
NM_145207.2(SPATA5):c.1877G>C (p.Trp626Ser) rs375343753
NM_145207.2(SPATA5):c.2485G>T (p.Asp829Tyr) rs35206443
NM_145207.2(SPATA5):c.983_985delCAA (p.Thr330del) rs796052243
NM_145239.2(PRRT2):c.412C>G (p.Pro138Ala) rs79182085
NM_145239.2(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_145239.2(PRRT2):c.649dupC (p.Arg217Profs) rs587778771
NM_145691.3(ATPAF2):c.511G>A (p.Val171Met) rs62073570
NM_147127.4(EVC2):c.1384A>G (p.Thr462Ala) rs73063795
NM_147127.4(EVC2):c.1711-11_1711-10dupTT rs35103377
NM_147127.4(EVC2):c.1730T>C (p.Met577Thr) rs113869406
NM_147127.4(EVC2):c.2029C>A (p.Arg677=) rs73198165
NM_147127.4(EVC2):c.3138C>G (p.Ser1046Arg) rs73074138
NM_152263.3(TPM3):c.502C>T (p.Arg168Cys) rs121964854
NM_152264.4(SLC39A13):c.439C>G (p.Gln147Glu) rs148291843
NM_152296.4(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_152296.4(ATP1A3):c.357C>T (p.Asn119=) rs143547136
NM_152384.2(BBS5):c.551A>G (p.Asn184Ser) rs137853921
NM_152416.3(NDUFAF6):c.838G>A (p.Val280Ile) rs61743028
NM_152419.2(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_152419.2(HGSNAT):c.234+14C>G rs146429523
NM_152618.2(BBS12):c.1103G>A (p.Arg368His) rs78457123
NM_152618.2(BBS12):c.1114_1115del (p.Phe372Terfs) rs587777803
NM_152618.2(BBS12):c.116T>C (p.Ile39Thr) rs138036823
NM_152743.3(BRAT1):c.1135-8C>A rs113613637
NM_152743.3(BRAT1):c.1867G>A (p.Gly623Ser) rs77015302
NM_152743.3(BRAT1):c.2041G>A (p.Glu681Lys) rs145833100
NM_152743.3(BRAT1):c.2353C>T (p.Arg785Trp) rs61729932
NM_152743.3(BRAT1):c.866G>C (p.Cys289Ser) rs140451075
NM_152743.3(BRAT1):c.962T>G (p.Leu321Arg) rs150942467
NM_152783.4(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303
NM_152783.4(D2HGDH):c.43C>G (p.Arg15Gly) rs4675887
NM_153006.2(NAGS):c.182A>G (p.Glu61Gly) rs113134544
NM_153240.4(NPHP3):c.1157A>G (p.Asn386Ser) rs142021049
NM_153240.4(NPHP3):c.154G>A (p.Ala52Thr) rs145643112
NM_153240.4(NPHP3):c.1986G>A (p.Arg662=) rs77533254
NM_153240.4(NPHP3):c.3550G>A (p.Ala1184Thr) rs34391943
NM_153240.4(NPHP3):c.3913C>T (p.Arg1305Cys) rs35485382
NM_153252.4(BRWD3):c.769G>A (p.Val257Ile) rs112829587
NM_153380.3(ZNF41):c.332C>T (p.Pro111Leu) rs104894955
NM_153609.3(TMPRSS6):c.1336C>T (p.Arg446Trp) rs117576908
NM_153609.3(TMPRSS6):c.2132G>T (p.Arg711Leu) rs115310908
NM_153700.2(STRC):c.4127+8C>T rs2470137
NM_153704.5(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698
NM_153704.5(TMEM67):c.507-19T>C rs138589757
NM_153704.5(TMEM67):c.579_580delAG (p.Gly195Ilefs) rs386834202
NM_153717.2(EVC):c.2821C>T (p.Gln941Ter) rs896581899
NM_153717.2(EVC):c.284A>G (p.Asp95Gly) rs41269547
NM_153767.3(KCNJ1):c.1013T>C (p.Met338Thr) rs59172778
NM_153818.1(PEX10):c.745G>C (p.Val249Leu) rs139345520
NM_170707.3(LMNA):c.357C>T (p.Arg119=) rs41313880
NM_172107.3(KCNQ2):c.1545G>T (p.Glu515Asp) rs117067974
NM_172107.3(KCNQ2):c.1639C>T (p.Arg547Trp) rs796052650
NM_172107.3(KCNQ2):c.1689C>T (p.Asp563=) rs35450031
NM_172244.2(SGCD):c.712_714delAAG (p.Lys238del) rs397517924
NM_173076.2(ABCA12):c.1649A>G (p.Glu550Gly) rs16853149
NM_173076.2(ABCA12):c.821A>G (p.Gln274Arg) rs11890468
NM_173076.2(ABCA12):c.859C>G (p.Arg287Gly) rs11891778
NM_173354.4(SIK1):c.1215G>A (p.Met405Ile) rs34987632
NM_173354.4(SIK1):c.274-3delT rs550878772
NM_173477.4(USH1G):c.388A>G (p.Lys130Glu) rs111033465
NM_173591.3(OTOGL):c.6202T>G (p.Cys2068Gly) rs145929269
NM_173630.3(RTTN):c.6038G>T (p.Cys2013Phe) rs145976466
NM_173630.3(RTTN):c.6445G>A (p.Ala2149Thr) rs34989098
NM_173660.4(DOK7):c.134C>T (p.Ser45Leu) rs62272670
NM_174917.4(ACSF3):c.1672C>T (p.Arg558Trp) rs141090143
NM_175053.3(KRT74):c.821T>C (p.Phe274Ser) rs147962513
NM_175073.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324
NM_175629.2(DNMT3A):c.89A>C (p.Glu30Ala) rs143730975
NM_176787.4(PIGN):c.283C>T (p.Arg95Trp) rs558341655
NM_177438.2(DICER1):c.20A>G (p.Gln7Arg) rs117358479
NM_177986.4(DSG4):c.1568C>T (p.Pro523Leu) rs34620697
NM_181426.2(CCDC39):c.1433A>G (p.Gln478Arg) rs115545935
NM_181503.2(EXOSC8):c.815G>C (p.Ser272Thr) rs36027220
NM_181882.2(PRX):c.731C>T (p.Ala244Val) rs118071705
NM_182896.2(ARL13B):c.1186C>G (p.Pro396Ala) rs11554412
NM_182914.2(SYNE2):c.17561T>C (p.Leu5854Pro) rs117070973
NM_182914.2(SYNE2):c.20161G>A (p.Ala6721Thr) rs140897155
NM_183059.2(RD3):c.584A>T (p.Asp195Val) rs143207434
NM_183227.2(RAB23):c.301T>G (p.Ser101Ala) rs45479896
NM_183416.3(KIF1B):c.3017A>G (p.Glu1006Gly) rs148481786
NM_194248.2(OTOF):c.1424A>G (p.Glu475Gly) rs111033396
NM_194248.2(OTOF):c.2375G>A (p.Arg792Gln) rs144800506
NM_194248.2(OTOF):c.3966C>G (p.Asp1322Glu) rs80356576
NM_194318.3(B3GLCT):c.660+1G>A rs80338851
NM_194318.3(B3GLCT):c.733G>A (p.Val245Met) rs34830061
NM_198056.2(SCN5A):c.100C>T (p.Arg34Cys) rs6791924
NM_198056.2(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_198056.2(SCN5A):c.3308C>A (p.Ser1103Tyr) rs7626962
NM_198056.2(SCN5A):c.5350G>A (p.Glu1784Lys) rs137854601
NM_198056.2(SCN5A):c.6010T>C (p.Phe2004Leu) rs41311117
NM_198076.5(COX20):c.92G>A (p.Arg31Gln) rs764620077
NM_198253.2(TERT):c.1234C>T (p.His412Tyr) rs34094720
NM_198270.3(NHS):c.211C>T (p.Pro71Ser) rs398124605
NM_198309.3(TTC8):c.1223A>G (p.Gln408Arg) rs142938748
NM_198428.2(BBS9):c.1280C>T (p.Ala427Val) rs138072724
NM_198428.2(BBS9):c.1648A>G (p.Ile550Val) rs150399299
NM_198428.2(BBS9):c.1849A>C (p.Ile617Leu) rs34209904
NM_198428.2(BBS9):c.2336T>A (p.Leu779Gln) rs142434516
NM_198525.2(KIF7):c.1429G>A (p.Ala477Thr) rs527804875
NM_198525.2(KIF7):c.1895C>T (p.Pro632Leu) rs115857753
NM_198525.2(KIF7):c.2501A>G (p.Gln834Arg) rs138354681
NM_198525.2(KIF7):c.2981A>G (p.Gln994Arg) rs138410949
NM_198576.3(AGRN):c.1660G>A (p.Val554Met) rs79016973
NM_198576.3(AGRN):c.2690C>T (p.Ala897Val) rs116836855
NM_198576.3(AGRN):c.3077C>A (p.Thr1026Asn) rs3813188
NM_198576.3(AGRN):c.3264G>C (p.Leu1088Phe) rs150132566
NM_198576.3(AGRN):c.4540G>A (p.Ala1514Thr) rs111818381
NM_198576.4(AGRN):c.1123G>T (p.Ala375Ser) rs138031468
NM_198843.2(SFTPB):c.565G>A (p.Val189Ile) rs34550459
NM_199242.2(UNC13D):c.1579C>T (p.Arg527Trp) rs75366116
NM_202001.2(ERCC1):c.875G>A (p.Trp292Ter) rs116640350
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628
NM_203447.3(DOCK8):c.3565A>G (p.Ile1189Val) rs77399114
NM_203447.3(DOCK8):c.3840+3A>G rs16938572
NM_203447.3(DOCK8):c.54-1G>T rs192864327
NM_203447.3(DOCK8):c.952G>A (p.Ala318Thr) rs35482838
NM_205847.2(GMPPA):c.40+15G>A rs80239182
NM_206900.2(RTN2):c.949G>A (p.Gly317Ser) rs143937661
NM_206933.2(USH2A):c.1256G>T (p.Cys419Phe) rs121912600
NM_207122.1(EXT2):c.1017T>C (p.Cys339=) rs11828047
NM_207122.1(EXT2):c.124A>G (p.Met42Val) rs4755779
NM_207346.2(TSEN54):c.1328C>G (p.Ser443Cys) rs150169668
NM_207346.2(TSEN54):c.919G>T (p.Ala307Ser) rs113994152
NM_207361.5(FREM2):c.1188G>C (p.Gln396His) rs61997174
NM_207361.5(FREM2):c.3116T>A (p.Met1039Lys) rs2496424
NM_207361.5(FREM2):c.8885C>T (p.Ala2962Val) rs7996253
NM_207361.5(FREM2):c.8902G>A (p.Val2968Ile) rs116099212
NM_212550.4(BLOC1S3):c.478G>T (p.Val160Leu) rs201502372
NM_213599.2(ANO5):c.2354T>G (p.Leu785Arg) rs146136277
NM_213599.2(ANO5):c.2698A>C (p.Met900Leu) rs148293985
NR_001566.1(TERC):n.228G>A rs141686314
m.1291T>C rs267606620
m.1393G>A rs111033325
m.15497G>A rs199951903
m.4295A>G rs121434467
m.4336T>C rs41456348
m.8344A>G rs118192098

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.