ClinVar Miner

Variants from Natera, Inc. with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Natera, Inc.: Collection method of the submission from Natera, Inc.:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

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

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
7140 5291 111 1216 2097 8 233 3372

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
Natera, Inc. pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor other
pathogenic 102 432 42 2 1 2 0 0
likely pathogenic 74 4 45 0 0 0 0 0
uncertain significance 56 53 1 1067 127 0 0 1
likely benign 9 9 636 0 243 0 0 0
benign 27 6 284 467 4 1 2 5

Submitter to submitter summary #

Total submitters: 135
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
Invitae 0 4560 0 293 1158 3 20 1474
Illumina Clinical Services Laboratory,Illumina 0 1961 0 339 781 0 26 1145
Counsyl 0 550 0 337 58 0 35 430
GeneReviews 0 120 106 7 1 0 14 128
Mendelics 0 177 0 45 39 0 13 97
Fulgent Genetics,Fulgent Genetics 0 223 0 29 32 0 1 62
Baylor Genetics 0 257 0 16 10 0 18 44
OMIM 0 356 0 14 6 1 15 36
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 2 4 26 0 0 2 32
Genetic Services Laboratory, University of Chicago 0 54 0 18 3 0 5 26
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 196 0 15 10 1 0 26
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 77 0 3 18 3 1 25
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 114 0 21 4 0 0 25
LDLR-LOVD, British Heart Foundation 0 27 0 11 8 0 5 24
Broad Institute Rare Disease Group, Broad Institute 0 91 0 12 8 0 4 24
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 19 0 7 2 0 14 23
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 7 0 9 10 0 2 21
Myriad Women's Health, Inc. 0 160 0 21 0 0 0 21
SIB Swiss Institute of Bioinformatics 0 18 0 14 4 0 1 19
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 7 0 10 4 0 3 17
Leiden Open Variation Database 0 18 0 4 4 0 9 17
Clinical Biochemistry Laboratory,Health Services Laboratory 0 15 0 3 13 0 0 16
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 48 0 16 0 0 0 16
Integrated Genetics/Laboratory Corporation of America 0 524 1 10 2 0 3 16
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 64 0 12 3 0 1 16
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 23 0 4 5 0 6 15
Color Health, Inc 0 47 0 8 6 0 1 15
Robarts Research Institute,Western University 0 9 0 10 1 0 2 13
Institute of Human Genetics, University of Leipzig Medical Center 0 29 0 4 4 0 5 13
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 12 0 3 0 0 9 12
Research and Development, ARUP Laboratories 0 48 0 3 2 0 7 12
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 6 0 1 11 0 0 12
Nilou-Genome Lab 0 15 0 3 8 0 0 11
Pars Genome Lab 0 8 0 7 4 0 0 11
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 5 0 6 1 0 3 10
CeGaT Praxis fuer Humangenetik Tuebingen 0 21 0 1 7 0 1 9
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 32 0 9 0 0 0 9
ClinGen PAH Variant Curation Expert Panel 0 65 0 6 2 0 1 9
Elsea Laboratory,Baylor College of Medicine 0 4 0 1 6 0 1 8
Division of Human Genetics,Children's Hospital of Philadelphia 0 17 0 5 2 0 1 8
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 50 0 4 4 0 0 8
Fundacion Hipercolesterolemia Familiar 0 9 0 4 2 0 2 8
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 31 0 4 2 0 2 8
GeneDx 0 97 0 3 4 0 0 7
Mayo Clinic Laboratories, Mayo Clinic 0 16 0 0 5 0 2 7
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 12 0 3 4 0 0 7
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 18 0 2 4 0 1 7
Department of Pathology and Laboratory Medicine,Sinai Health System 0 7 0 0 7 0 0 7
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 0 10 0 5 1 0 1 7
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 16 0 5 0 0 2 7
SingHealth Duke-NUS Institute of Precision Medicine 0 5 0 5 2 0 0 7
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia 0 8 0 5 0 0 2 7
NIHR Bioresource Rare Diseases, University of Cambridge 0 5 0 5 0 0 1 6
Johns Hopkins Genomics, Johns Hopkins University 0 29 0 2 3 0 1 6
Institute for Integrative and Experimental Genomics,University of Luebeck 0 0 0 3 0 0 2 5
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 33 0 3 0 0 2 5
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 5 0 3 2 0 0 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 7 0 5 0 0 0 5
Iberoamerican FH Network 0 8 0 4 1 0 0 5
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 3 0 2 0 0 3 5
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 10 0 1 2 0 1 4
CSER _CC_NCGL, University of Washington 0 3 0 2 2 0 0 4
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 24 0 4 0 0 0 4
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen 0 6 0 3 1 0 0 4
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 7 0 3 1 0 0 4
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 72 0 2 0 0 1 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 29 0 1 1 0 1 3
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 30 0 0 0 0 3 3
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 14 0 2 0 0 1 3
PharmGKB 0 0 0 0 0 3 0 3
Phosphorus, Inc. 0 14 0 1 2 0 0 3
Sharon lab,Hadassah-Hebrew University Medical Center 0 12 0 1 0 0 2 3
Inherited Neuropathy Consortium 0 2 0 0 0 0 3 3
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 9 0 2 0 0 1 3
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics 0 11 0 2 0 0 1 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 0 0 1 1 0 0 2
Molecular Genetics Laboratory,Institute for Ophthalmic Research 0 2 0 1 0 0 1 2
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 16 0 1 1 0 0 2
Institute of Human Genetics, Klinikum rechts der Isar 0 20 0 2 0 0 0 2
Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela 0 0 0 1 0 0 1 2
Service de Génétique Moléculaire,Hôpital Robert Debré 0 1 0 1 0 0 1 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 9 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 4 0 1 0 0 1 2
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 8 0 1 0 0 1 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 7 0 0 2 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 5 0 0 1 0 1 2
CFTR-France 0 18 0 2 0 0 0 2
ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel, ClinGen 0 20 0 1 0 0 1 2
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 1 0 0 1 2
The Core Laboratory in Medical Center of Clinical Research,Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine 0 3 0 1 0 0 1 2
Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine 0 0 0 1 0 0 1 2
ATS em Genética Clínica,Universidade Federal do Rio Grande do Sul 0 3 0 2 0 0 0 2
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 6 0 1 0 0 0 1
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 0 2 0 0 0 0 1 1
PreventionGenetics, PreventionGenetics 0 28 0 0 1 0 0 1
Institute of Human Genetics,Cologne University 0 3 0 1 0 0 0 1
FirmaLab,FirmaLab 0 2 0 0 0 0 1 1
Centogene AG - the Rare Disease Company 0 17 0 0 0 0 1 1
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 14 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 10 0 0 1 0 0 1
SNPedia 0 0 0 1 0 0 0 1
Blueprint Genetics 0 4 0 1 0 0 0 1
LISIN Facultad de Ciencias Exactas, Universidad Nacional de La Plata 0 1 0 0 0 0 1 1
Molecular Genetics Laboratory; Baylor College of Medicine 0 0 0 0 1 0 0 1
Center for Genetic Medicine Research,Children's National Medical Center 0 0 0 1 0 0 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 2 0 1 0 0 0 1
Pathway Genomics 0 1 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
Centre for Translational Omics - GOSgene,University College London 0 0 0 1 0 0 0 1
Centre for Human Genetics 0 0 0 1 0 0 0 1
National Institute of Mental Health and Neurosciences 0 0 0 0 0 0 1 1
Laboratory of Human Genetics,Universidade de São Paulo 0 0 0 0 0 0 1 1
Albrecht-Kossel-Institute,Medical University Rostock 0 1 0 0 0 0 1 1
UW Hindbrain Malformation Research Program,University of Washington 0 1 0 0 0 0 1 1
Medical Genetics, University of Parma 0 0 0 0 1 0 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 1 0 1 0 0 0 1
National Institute on Deafness and Communication Disorders,National Institutes of Health 0 0 0 0 1 0 0 1
Kasturba Medical College, Manipal University 0 2 0 1 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 2 0 0 0 0 1 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 9 0 1 0 0 0 1
Yale Center for Mendelian Genomics,Yale University 0 0 0 1 0 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 1 0 0 0 0 1 1
Center for Precision Medicine,Vanderbilt University Medical Center 0 0 0 0 1 0 0 1
Tehran Medical Genetics Laboratory 0 0 0 1 0 0 0 1
ClinGen Hearing Loss Variant Curation Expert Panel 0 10 0 0 1 0 0 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 0 0 1 0 0 0 1
Department of Pediatrics, Gifu University 0 2 0 1 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 0 0 1 0 0 1
Reproductive Health Research and Development,BGI Genomics 0 13 0 1 0 0 0 1
Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence, 0 0 0 0 0 0 1 1
New York Genome Center 0 5 0 1 0 0 0 1
International Fanconi Anemia Registry,The Rockefeller University 0 0 0 0 0 0 1 1
Sydney Genome Diagnostics,Children's Hospital Westmead 0 2 0 0 1 0 0 1
Laboratory of Molecular Genetics,Children's Memorial Health Institute 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 3372
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.1034A>T (p.Asp345Val) rs771978135
NM_000016.5(ACADM):c.1046G>T (p.Arg349Leu) rs760335676
NM_000016.5(ACADM):c.1052C>T (p.Thr351Ile) rs766140986
NM_000016.5(ACADM):c.210T>G (p.Thr70=) rs778891510
NM_000016.5(ACADM):c.526G>T (p.Ala176Ser) rs200754053
NM_000016.5(ACADM):c.577A>G (p.Thr193Ala) rs121434279
NM_000016.5(ACADM):c.582C>T (p.Asn194=) rs778535261
NM_000016.5(ACADM):c.599+2T>C rs148260275
NM_000016.5(ACADM):c.645T>A (p.Ala215=) rs147395095
NM_000016.5(ACADM):c.755T>G (p.Phe252Cys) rs780510026
NM_000016.5(ACADM):c.797A>G (p.Asp266Gly) rs201375579
NM_000016.5(ACADM):c.984del (p.Met328fs) rs747610156
NM_000016.5(ACADM):c.994C>T (p.Leu332=) rs138098371
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala) rs904631654
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met)
NM_000018.4(ACADVL):c.138+2dup rs1555527548
NM_000018.4(ACADVL):c.1533-4T>A rs369986567
NM_000018.4(ACADVL):c.1581G>A (p.Pro527=) rs149436747
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180
NM_000018.4(ACADVL):c.1605+7G>A rs572010910
NM_000018.4(ACADVL):c.1678+23C>T rs147546456
NM_000018.4(ACADVL):c.1679-6G>A rs113994171
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp) rs118204014
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617
NM_000018.4(ACADVL):c.308A>G (p.Lys103Arg) rs140566084
NM_000018.4(ACADVL):c.63-2A>C rs1555527513
NM_000018.4(ACADVL):c.636C>T (p.Ala212=) rs76547988
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr) rs140629318
NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer) rs1057516714
NM_000018.4(ACADVL):c.678C>A (p.Ala226=) rs372114185
NM_000018.4(ACADVL):c.693T>A (p.Ser231=) rs77763289
NM_000018.4(ACADVL):c.753-27C>T rs374911841
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met) rs113994168
NM_000018.4(ACADVL):c.799_802del (p.Val267fs) rs761204548
NM_000018.4(ACADVL):c.963C>T (p.Asn321=) rs568118142
NM_000019.4(ACAT1):c.*6dup rs111390656
NM_000019.4(ACAT1):c.1160T>C (p.Ile387Thr) rs748303093
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=) rs367713788
NM_000019.4(ACAT1):c.171C>A (p.Gly57=)
NM_000019.4(ACAT1):c.436-4G>C rs3741050
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) rs148639841
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=) rs1591367485
NM_000019.4(ACAT1):c.60G>C (p.Arg20=) rs77311724
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys) rs753816946
NM_000022.2(ADA):c.986C>T rs121908715
NM_000022.4(ADA):c.162G>A (p.Lys54=) rs45557242
NM_000022.4(ADA):c.239A>G (p.Lys80Arg) rs11555566
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739
NM_000022.4(ADA):c.375C>G (p.Thr125=) rs766539394
NM_000022.4(ADA):c.384G>A (p.Glu128=) rs572092463
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) rs121908735
NM_000022.4(ADA):c.479-9C>T rs761848284
NM_000022.4(ADA):c.529G>A (p.Val177Met) rs121908719
NM_000022.4(ADA):c.58G>A (p.Gly20Arg) rs121908724
NM_000022.4(ADA):c.591T>A (p.His197Gln) rs142456343
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716
NM_000022.4(ADA):c.714C>T (p.His238=) rs577317154
NM_000022.4(ADA):c.822G>A (p.Pro274=) rs562095440
NM_000022.4(ADA):c.864T>G (p.Ala288=) rs146614184
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721
NM_000022.4(ADA):c.927G>A (p.Gln309=) rs139871719
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000022.4(ADA):c.975+8G>A rs192148185
NM_000023.4(SGCA):c.293G>A (p.Arg98His) rs137852621
NM_000023.4(SGCA):c.320C>T (p.Ala107Val) rs186669379
NM_000023.4(SGCA):c.37+10G>T rs200626376
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys) rs372210292
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln) rs372210292
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser) rs35130237
NM_000023.4(SGCA):c.522C>T (p.Asn174=) rs148960833
NM_000023.4(SGCA):c.591C>T (p.Tyr197=) rs756137267
NM_000023.4(SGCA):c.662G>A (p.Arg221His) rs138254713
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936
NM_000023.4(SGCA):c.764C>T (p.Pro255Leu) rs138019537
NM_000023.4(SGCA):c.80C>T (p.Thr27Met) rs565069721
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623
NM_000023.4(SGCA):c.90A>G (p.Pro30=) rs754840688
NM_000027.4(AGA):c.1023A>G (p.Glu341=) rs113407270
NM_000027.4(AGA):c.24T>C (p.Pro8=) rs34413111
NM_000027.4(AGA):c.303A>T (p.Ala101=) rs142449515
NM_000027.4(AGA):c.60A>G (p.Leu20=) rs114918706
NM_000027.4(AGA):c.623-7C>T rs201125635
NM_000027.4(AGA):c.762C>T (p.Ala254=) rs145465919
NM_000027.4(AGA):c.885G>A (p.Lys295=) rs34019119
NM_000027.4(AGA):c.941-5C>T rs377622082
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys) rs369664123
NM_000030.3(AGXT):c.264C>T (p.Ala88=) rs35698882
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558
NM_000030.3(AGXT):c.27C>A (p.Thr9=) rs180177188
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg) rs180177197
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000030.3(AGXT):c.35A>G (p.Lys12Arg) rs142969817
NM_000030.3(AGXT):c.489G>A (p.Leu163=) rs147601535
NM_000030.3(AGXT):c.537G>C (p.Leu179=) rs565927450
NM_000030.3(AGXT):c.654G>A (p.Ser218=) rs33958047
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys) rs121908526
NM_000030.3(AGXT):c.705G>A (p.Thr235=) rs35977912
NM_000030.3(AGXT):c.777-1G>C rs180177267
NM_000030.3(AGXT):c.839C>T (p.Ala280Val) rs73106685
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr) rs13408961
NM_000030.3(AGXT):c.885G>A (p.Ala295=) rs377132245
NM_000033.4(ABCD1):c.249C>T (p.Phe83=) rs782628755
NM_000033.4(ABCD1):c.615G>A (p.Ala205=) rs782601474
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000033.4(ABCD1):c.901-5C>T rs782603062
NM_000035.4(ALDOB):c.-11+1G>C rs181639417
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429
NM_000035.4(ALDOB):c.282C>T (p.Phe94=) rs549682194
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) rs387906225
NM_000035.4(ALDOB):c.486C>T (p.Leu162=) rs773334784
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys) rs35885472
NM_000035.4(ALDOB):c.849C>T (p.Asn283=) rs202062631
NM_000035.4(ALDOB):c.906T>C (p.Tyr302=) rs138866018
NM_000046.5(ARSB):c.1078C>T (p.Leu360=) rs140923667
NM_000046.5(ARSB):c.1086G>A (p.Arg362=) rs144879531
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser) rs144222167
NM_000046.5(ARSB):c.215T>G (p.Leu72Arg) rs397514441
NM_000046.5(ARSB):c.317G>A (p.Arg106His) rs150087888
NM_000046.5(ARSB):c.570A>G (p.Thr190=) rs148138805
NM_000046.5(ARSB):c.723G>A (p.Val241=) rs199858121
NM_000046.5(ARSB):c.729G>A (p.Glu243=) rs144029271
NM_000046.5(ARSB):c.82C>T (p.Leu28=) rs138587718
NM_000046.5(ARSB):c.88C>T (p.Leu30=) rs766870239
NM_000048.4(ASL):c.1047C>G (p.Val349=)
NM_000048.4(ASL):c.1063-8G>A rs548397162
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys) rs28940287
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) rs28940286
NM_000048.4(ASL):c.1278C>T (p.Cys426=) rs140770112
NM_000048.4(ASL):c.175G>A (p.Glu59Lys) rs869312985
NM_000048.4(ASL):c.392C>T (p.Thr131Met) rs143793815
NM_000048.4(ASL):c.402C>A (p.Gly134=)
NM_000048.4(ASL):c.545G>A (p.Arg182Gln) rs751590073
NM_000048.4(ASL):c.655+8G>A rs200203985
NM_000048.4(ASL):c.72C>T (p.Phe24=) rs760059034
NM_000048.4(ASL):c.924C>T (p.Ala308=) rs747831550
NM_000049.4(ASPA):c.237-6T>C rs370219865
NM_000049.4(ASPA):c.723T>C (p.Ala241=)
NM_000049.4(ASPA):c.78C>T (p.Thr26=) rs145616193
NM_000049.4(ASPA):c.876_879del (p.Glu293fs) rs766720790
NM_000051.3(ATM):c.1027_1030delGAAA rs587780612
NM_000051.3(ATM):c.1254A>G (p.Gln418=) rs4987943
NM_000051.3(ATM):c.1272T>C (p.Pro424=) rs35578748
NM_000051.3(ATM):c.1541G>A (p.Gly514Asp) rs2235000
NM_000051.3(ATM):c.162T>C (p.Tyr54=) rs3218690
NM_000051.3(ATM):c.1636C>G (p.Leu546Val) rs2227924
NM_000051.3(ATM):c.186-7C>T rs55674039
NM_000051.3(ATM):c.2096A>G (p.Glu699Gly) rs147934285
NM_000051.3(ATM):c.2127T>C (p.Ile709=) rs56252953
NM_000051.3(ATM):c.2281A>T (p.Thr761Ser) rs2235011
NM_000051.3(ATM):c.2362A>C (p.Ser788Arg) rs641252
NM_000051.3(ATM):c.2449G>C (p.Asp817His) rs587778067
NM_000051.3(ATM):c.2572T>C (p.Phe858Leu) rs1800056
NM_000051.3(ATM):c.2614C>T (p.Pro872Ser) rs3218673
NM_000051.3(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.3(ATM):c.2839-10A>G rs770032309
NM_000051.3(ATM):c.2921+1G>A rs587781558
NM_000051.3(ATM):c.2T>C (p.Met1Thr) rs786203606
NM_000051.3(ATM):c.3154-4G>A rs199543313
NM_000051.3(ATM):c.3383A>G (p.Gln1128Arg) rs2229020
NM_000051.3(ATM):c.3403-15T>A rs79701258
NM_000051.3(ATM):c.3577-7C>T rs558667657
NM_000051.3(ATM):c.4109+6T>C rs368606937
NM_000051.3(ATM):c.4473C>T (p.Phe1491=) rs4988008
NM_000051.3(ATM):c.4724G>A (p.Arg1575His) rs550552791
NM_000051.3(ATM):c.4768C>T (p.Leu1590Phe) rs35962982
NM_000051.3(ATM):c.4871A>G (p.His1624Arg) rs56354559
NM_000051.3(ATM):c.5005+7_5005+8del rs587780626
NM_000051.3(ATM):c.5188C>T (p.Arg1730Ter) rs764389018
NM_000051.3(ATM):c.5497-8T>C rs3092829
NM_000051.3(ATM):c.5633C>T (p.Ser1878Leu) rs758908522
NM_000051.3(ATM):c.5675-4T>A rs56075338
NM_000051.3(ATM):c.6088A>G (p.Ile2030Val) rs145847315
NM_000051.3(ATM):c.6235G>A (p.Val2079Ile) rs1800060
NM_000051.3(ATM):c.6396A>G (p.Leu2132=) rs370537345
NM_000051.3(ATM):c.6437G>C (p.Ser2146Thr) rs56815840
NM_000051.3(ATM):c.6452+5T>A rs533830556
NM_000051.3(ATM):c.6888A>T (p.Ala2296=) rs200735689
NM_000051.3(ATM):c.6919C>T (p.Leu2307Phe) rs56009889
NM_000051.3(ATM):c.735C>T (p.Val245=) rs3218674
NM_000051.3(ATM):c.7629+2T>C rs786203059
NM_000051.3(ATM):c.7778A>G (p.Gln2593Arg) rs587779867
NM_000051.3(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.3(ATM):c.7988T>C (p.Val2663Ala) rs377648506
NM_000051.3(ATM):c.8786+8A>C rs4986839
NM_000051.3(ATM):c.8787-6C>T rs1591313765
NM_000051.3(ATM):c.8987+3G>A rs56360226
NM_000051.3(ATM):c.998C>T (p.Ser333Phe) rs28904919
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile) rs200381392
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs) rs587781658
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu) rs141087784
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile) rs369903995
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile) rs144761622
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu) rs200431631
NM_000051.4(ATM):c.6795C>T rs3218699
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala) rs1800061
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863
NM_000051.4(ATM):c.749G>A (p.Arg250Gln) rs56123940
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer) rs759965045
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000053.4(ATP7B):c.-123_-119dupCGCCG rs148013251
NM_000053.4(ATP7B):c.1002T>C (p.Ser334=)
NM_000053.4(ATP7B):c.1198A>G (p.Thr400Ala) rs199807461
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945
NM_000053.4(ATP7B):c.1401T>G (p.Pro467=) rs529527733
NM_000053.4(ATP7B):c.1554C>T (p.Ser518=)
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966
NM_000053.4(ATP7B):c.1686C>T (p.Ser562=) rs138962570
NM_000053.4(ATP7B):c.1687G>A (p.Asp563Asn)
NM_000053.4(ATP7B):c.1708-5T>G rs770829226
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer) rs1057516893
NM_000053.4(ATP7B):c.1830G>A (p.Pro610=) rs375689672
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998
NM_000053.4(ATP7B):c.1965G>A (p.Leu655=) rs574041847
NM_000053.4(ATP7B):c.1969A>C (p.Ser657Arg) rs372436901
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val) rs146303208
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.4(ATP7B):c.2124C>A (p.Leu708=) rs779988850
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684
NM_000053.4(ATP7B):c.2241C>A (p.Ile747=)
NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu) rs776668666
NM_000053.4(ATP7B):c.2301C>T (p.Pro767=) rs770787421
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val) rs193922103
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly) rs137853284
NM_000053.4(ATP7B):c.2355+13T>G rs139211339
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe) rs751710854
NM_000053.4(ATP7B):c.2447+8A>G rs747586752
NM_000053.4(ATP7B):c.2447+8_2447+9insAA rs746283578
NM_000053.4(ATP7B):c.2475G>A (p.Val825=) rs373528664
NM_000053.4(ATP7B):c.2604C>T (p.Pro868=) rs368902724
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994
NM_000053.4(ATP7B):c.2712A>G (p.Glu904=)
NM_000053.4(ATP7B):c.2731-2A>G rs367956522
NM_000053.4(ATP7B):c.2752G>A (p.Asp918Asn) rs540935874
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val) rs534960245
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met) rs750019452
NM_000053.4(ATP7B):c.3006C>T (p.Ala1002=) rs369620062
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882
NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=) rs200324179
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp) rs746485916
NM_000053.4(ATP7B):c.3123G>C (p.Arg1041=) rs1192564410
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe) rs1286080173
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=) rs373081328
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg) rs757549770
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His) rs377297166
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys) rs756029120
NM_000053.4(ATP7B):c.3557-8C>T rs765668065
NM_000053.4(ATP7B):c.360C>T (p.Gly120=)
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118
NM_000053.4(ATP7B):c.3624G>T (p.Thr1208=) rs377267217
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=) rs375007352
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992
NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=) rs200597654
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=) rs114771537
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe) rs749472361
NM_000053.4(ATP7B):c.4035C>T (p.Pro1345=) rs564541246
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser) rs587783318
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048
NM_000053.4(ATP7B):c.445G>A (p.Val149Met) rs200606656
NM_000053.4(ATP7B):c.610A>G (p.Met204Val)
NM_000053.4(ATP7B):c.740A>G (p.Glu247Gly) rs376398239
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041
NM_000057.4(BLM):c.1479_1480del (p.Thr494fs) rs746244182
NM_000057.4(BLM):c.1490A>G (p.Gln497Arg) rs368547042
NM_000057.4(BLM):c.1785A>T (p.Ser595=) rs79871543
NM_000057.4(BLM):c.178T>A (p.Leu60Ile) rs138542210
NM_000057.4(BLM):c.1825C>A (p.Pro609Thr) rs770255643
NM_000057.4(BLM):c.1833A>G (p.Ser611=) rs747181657
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474
NM_000057.4(BLM):c.2169A>G (p.Gln723=) rs781635047
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile) rs149754073
NM_000057.4(BLM):c.2555+8G>A rs1388713132
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935
NM_000057.4(BLM):c.274A>G (p.Asn92Asp) rs200690226
NM_000057.4(BLM):c.2824-7A>G rs374616797
NM_000057.4(BLM):c.3039T>C (p.His1013=) rs747406569
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945
NM_000057.4(BLM):c.3585C>T (p.Ser1195=) rs1023322113
NM_000057.4(BLM):c.3609G>A (p.Ala1203=) rs151114049
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256
NM_000057.4(BLM):c.3828G>A (p.Ala1276=) rs369383272
NM_000057.4(BLM):c.437A>T (p.Asp146Val) rs902876126
NM_000057.4(BLM):c.465T>C (p.Asp155=) rs185349681
NM_000070.2(CAPN3):c.1319G>A rs376107921
NM_000070.3(CAPN3):c.1002C>T (p.His334=)
NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493
NM_000070.3(CAPN3):c.1077G>A (p.Pro359=) rs759384108
NM_000070.3(CAPN3):c.1116-5A>G rs28364467
NM_000070.3(CAPN3):c.1194-9A>G rs374665929
NM_000070.3(CAPN3):c.1250C>T (p.Thr417Met) rs200646556
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg) rs773827877
NM_000070.3(CAPN3):c.1404C>T (p.Asp468=) rs534326487
NM_000070.3(CAPN3):c.1437C>T (p.Ser479=) rs147914333
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719
NM_000070.3(CAPN3):c.1643G>A (p.Arg548His) rs146309264
NM_000070.3(CAPN3):c.1746-20C>G rs201892814
NM_000070.3(CAPN3):c.1746-7C>G rs199978708
NM_000070.3(CAPN3):c.1795dup (p.Thr599fs) rs80338803
NM_000070.3(CAPN3):c.1812C>T (p.Phe604=) rs144383704
NM_000070.3(CAPN3):c.1842G>C (p.Glu614Asp) rs201607149
NM_000070.3(CAPN3):c.2040C>T (p.Val680=) rs200583904
NM_000070.3(CAPN3):c.2106G>A (p.Ala702=) rs144260889
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=) rs147774793
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842
NM_000070.3(CAPN3):c.2259C>T (p.Asp753=)
NM_000070.3(CAPN3):c.2269C>T (p.His757Tyr) rs148246325
NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln) rs80338802
NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr) rs138867099
NM_000070.3(CAPN3):c.2380+19C>T rs141234995
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128
NM_000070.3(CAPN3):c.2409A>G (p.Gly803=) rs143139259
NM_000070.3(CAPN3):c.2433T>C (p.Val811=) rs28364543
NM_000070.3(CAPN3):c.246G>A (p.Pro82=) rs146529432
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala) rs587780291
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly) rs17592
NM_000070.3(CAPN3):c.525C>T (p.Asp175=) rs144383442
NM_000070.3(CAPN3):c.550del (p.Thr184fs) rs80338800
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu) rs28364364
NM_000070.3(CAPN3):c.73C>T (p.His25Tyr) rs61735534
NM_000070.3(CAPN3):c.78G>A (p.Pro26=) rs62642519
NM_000070.3(CAPN3):c.802-9G>A rs761211705
NM_000070.3(CAPN3):c.984C>T (p.Cys328=) rs28364441
NM_000071.2(CBS):c.1006C>T (p.Arg336Cys) rs398123151
NM_000071.2(CBS):c.1007G>A (p.Arg336His) rs760417941
NM_000071.2(CBS):c.1039G>A (p.Gly347Ser) rs771298943
NM_000071.2(CBS):c.1058C>T (p.Thr353Met) rs121964972
NM_000071.2(CBS):c.1145+7C>T rs201158177
NM_000071.2(CBS):c.1161C>T (p.Ser387=) rs149280976
NM_000071.2(CBS):c.1265C>T (p.Pro422Leu) rs28934892
NM_000071.2(CBS):c.1316G>A (p.Arg439Gln) rs756467921
NM_000071.2(CBS):c.1330G>A (p.Asp444Asn) rs28934891
NM_000071.2(CBS):c.215A>T (p.Lys72Ile) rs192232907
NM_000071.2(CBS):c.325T>C (p.Cys109Arg) rs778220779
NM_000071.2(CBS):c.362G>A (p.Arg121His) rs770095972
NM_000071.2(CBS):c.374G>A (p.Arg125Gln) rs781444670
NM_000071.2(CBS):c.770C>T (p.Thr257Met) rs758236584
NM_000071.2(CBS):c.828+1G>A rs763290176
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000071.2(CBS):c.894G>A (p.Gln298=) rs370514077
NM_000071.3(CBS):c.1512G>A (p.Glu504=) rs149170219
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148
NM_000071.3(CBS):c.829-8C>G rs750081937
NM_000080.4(CHRNE):c.1071G>A (p.Pro357=) rs772143528
NM_000080.4(CHRNE):c.1104C>T (p.Pro368=) rs767374241
NM_000080.4(CHRNE):c.1374C>T (p.Cys458=) rs201030784
NM_000080.4(CHRNE):c.1383C>G (p.Ala461=) rs570378547
NM_000080.4(CHRNE):c.1416C>T (p.Leu472=) rs145456588
NM_000080.4(CHRNE):c.183_187dup (p.Leu63fs) rs776927709
NM_000080.4(CHRNE):c.23T>C (p.Val8Ala) rs199807050
NM_000080.4(CHRNE):c.6A>G (p.Ala2=) rs202198207
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu) rs201434993
NM_000080.4(CHRNE):c.797C>T (p.Ala266Val) rs201463598
NM_000080.4(CHRNE):c.802+7A>C rs756213406
NM_000086.2(CLN3):c.238A>T (p.Thr80Ser) rs150348015
NM_000086.2(CLN3):c.242C>T (p.Pro81Leu) rs137906617
NM_000086.2(CLN3):c.768C>T (p.Thr256=) rs145967477
NM_000091.4(COL4A3):c.3939G>A (p.Gly1313=) rs141552752
NM_000091.4(COL4A3):c.4494C>G (p.Thr1498=) rs200454769
NM_000091.4(COL4A3):c.4893C>T (p.Phe1631=) rs183218622
NM_000091.4(COL4A3):c.688-8G>T rs748843785
NM_000091.5(COL4A3):c.1352A>G (p.His451Arg) rs11677877
NM_000091.5(COL4A3):c.2475G>C (p.Leu825Phe)
NM_000091.5(COL4A3):c.2715C>T (p.Pro905=) rs75519005
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074
NM_000092.4(COL4A4):c.1435G>C (p.Gly479Arg) rs202210475
NM_000092.4(COL4A4):c.1893A>G (p.Gly631=) rs370886041
NM_000092.4(COL4A4):c.2008G>A (p.Val670Ile) rs34236495
NM_000092.4(COL4A4):c.2430C>G (p.Gly810=) rs769363556
NM_000092.4(COL4A4):c.2439A>T (p.Gly813=) rs34835657
NM_000092.4(COL4A4):c.3486A>G (p.Pro1162=) rs2229815
NM_000092.4(COL4A4):c.4195A>T (p.Met1399Leu) rs149117087
NM_000092.4(COL4A4):c.50A>G (p.Lys17Arg) rs114969026
NM_000092.4(COL4A4):c.541G>T (p.Ala181Ser) rs200707549
NM_000092.5(COL4A4):c.1202C>T (p.Ala401Val) rs199581317
NM_000092.5(COL4A4):c.1323T>C (p.Pro441=) rs35830639
NM_000092.5(COL4A4):c.2241C>T (p.Pro747=) rs374510402
NM_000092.5(COL4A4):c.3989C>T (p.Pro1330Leu) rs201578201
NM_000092.5(COL4A4):c.4152G>A (p.Ala1384=) rs75398993
NM_000092.5(COL4A4):c.507G>C (p.Lys169Asn) rs545808060
NM_000094.3(COL7A1):c.2392G>A (p.Gly798Arg) rs202237834
NM_000094.3(COL7A1):c.4613G>A (p.Arg1538His) rs2229824
NM_000094.3(COL7A1):c.4719A>G (p.Glu1573=) rs558405095
NM_000094.3(COL7A1):c.4782+9A>T rs369635501
NM_000094.3(COL7A1):c.5154+5T>C rs2854400
NM_000094.3(COL7A1):c.5259C>T (p.Pro1753=) rs151261530
NM_000094.3(COL7A1):c.5403A>G (p.Lys1801=) rs1575449774
NM_000094.3(COL7A1):c.54G>C (p.Ala18=) rs35899847
NM_000094.3(COL7A1):c.5532+1G>A rs767182886
NM_000094.3(COL7A1):c.5819C>T (p.Pro1940Leu) rs149267939
NM_000094.3(COL7A1):c.59G>C (p.Arg20Pro) rs755340663
NM_000094.3(COL7A1):c.6005G>A (p.Arg2002His) rs768326843
NM_000094.3(COL7A1):c.630C>T (p.Leu210=) rs117857033
NM_000094.3(COL7A1):c.6500C>T (p.Pro2167Leu) rs200473808
NM_000094.3(COL7A1):c.6696C>A (p.Pro2232=) rs61729223
NM_000094.3(COL7A1):c.8095G>A (p.Glu2699Lys) rs200938473
NM_000094.3(COL7A1):c.8504G>A (p.Arg2835His) rs139014122
NM_000094.3(COL7A1):c.8568C>T (p.Ser2856=) rs148454724
NM_000094.4(COL7A1):c.1167G>A (p.Thr389=)
NM_000094.4(COL7A1):c.1907G>T rs116005007
NM_000094.4(COL7A1):c.2100A>C rs756201098
NM_000094.4(COL7A1):c.2202G>A (p.Glu734=)
NM_000094.4(COL7A1):c.2792G>A (p.Arg931His)
NM_000094.4(COL7A1):c.2793C>T (p.Arg931=)
NM_000094.4(COL7A1):c.3064G>A (p.Val1022Ile)
NM_000094.4(COL7A1):c.3411C>T (p.Ala1137=)
NM_000094.4(COL7A1):c.3771G>A (p.Gly1257=)
NM_000094.4(COL7A1):c.3837G>A (p.Arg1279=)
NM_000094.4(COL7A1):c.4012-9C>T
NM_000094.4(COL7A1):c.4024C>T (p.Pro1342Ser)
NM_000094.4(COL7A1):c.4069G>A (p.Gly1357Arg)
NM_000094.4(COL7A1):c.4287C>T rs749814590
NM_000094.4(COL7A1):c.447C>T (p.Asp149=)
NM_000094.4(COL7A1):c.4636-9T>C rs760840151
NM_000094.4(COL7A1):c.4684G>A (p.Ala1562Thr)
NM_000094.4(COL7A1):c.5425-6_5425-5delTT rs762085901
NM_000094.4(COL7A1):c.5459C>G rs143037856
NM_000094.4(COL7A1):c.5736+9G>A rs777097228
NM_000094.4(COL7A1):c.6075C>T (p.Gly2025=)
NM_000094.4(COL7A1):c.6473G>A (p.Arg2158His)
NM_000094.4(COL7A1):c.7124T>A (p.Val2375Asp)
NM_000094.4(COL7A1):c.7191C>T rs34360255
NM_000094.4(COL7A1):c.7417G>A rs199819125
NM_000094.4(COL7A1):c.853G>A (p.Val285Ile)
NM_000098.3(CPT2):c.1025T>C (p.Met342Thr) rs144658100
NM_000098.3(CPT2):c.1335C>T (p.Cys445=) rs143075786
NM_000098.3(CPT2):c.1404G>A (p.Gln468=) rs140771069
NM_000098.3(CPT2):c.1477G>A (p.Ala493Thr) rs61731996
NM_000098.3(CPT2):c.1536C>T (p.Cys512=) rs199573389
NM_000098.3(CPT2):c.1578T>C (p.Gly526=) rs113493395
NM_000098.3(CPT2):c.1737C>T (p.Tyr579=) rs957344521
NM_000098.3(CPT2):c.1763C>G (p.Ser588Cys) rs1871748
NM_000098.3(CPT2):c.1806T>C (p.Phe602=) rs147953465
NM_000098.3(CPT2):c.1941G>A (p.Met647Ile) rs78266699
NM_000098.3(CPT2):c.321A>G (p.Lys107=) rs147846614
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys) rs121918528
NM_000098.3(CPT2):c.406G>T (p.Ala136Ser)
NM_000098.3(CPT2):c.448A>G (p.Thr150Ala) rs141505320
NM_000098.3(CPT2):c.45G>T (p.Ala15=) rs761850684
NM_000098.3(CPT2):c.692G>A (p.Arg231Gln) rs369369333
NM_000098.3(CPT2):c.721A>G (p.Arg241Gly)
NM_000098.3(CPT2):c.846C>T (p.Pro282=) rs138855128
NM_000098.3(CPT2):c.84C>T (p.Gly28=) rs772541454
NM_000098.3(CPT2):c.877A>G (p.Ser293Gly) rs145237292
NM_000098.3(CPT2):c.985G>T (p.Asp329Tyr) rs750191719
NM_000103.4(CYP19A1):c.1303C>T (p.Arg435Cys) rs121434534
NM_000103.4(CYP19A1):c.501C>A (p.Ser167=) rs35900050
NM_000103.4(CYP19A1):c.721T>A (p.Tyr241Asn)
NM_000108.5(DLD):c.1266A>G (p.Pro422=) rs766756785
NM_000108.5(DLD):c.1500T>C (p.Ala500=) rs773097788
NM_000108.5(DLD):c.199-7G>T rs1358100638
NM_000108.5(DLD):c.375G>A (p.Glu125=) rs559057715
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000108.5(DLD):c.549G>A (p.Thr183=) rs150630885
NM_000108.5(DLD):c.55C>G (p.Arg19Gly) rs144038427
NM_000108.5(DLD):c.763A>C (p.Met255Leu) rs533405046
NM_000108.5(DLD):c.826A>T (p.Thr276Ser) rs148873419
NM_000109.4(DMD):c.1294G>A (p.Glu432Lys) rs189143447
NM_000112.3(SLC26A2):c.1512G>A (p.Met504Ile) rs76668544
NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924
NM_000126.4(ETFA):c.442A>G (p.Ile148Val) rs199673198
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg) rs140169311
NM_000126.4(ETFA):c.6C>T (p.Phe2=) rs749929239
NM_000126.4(ETFA):c.759T>C (p.Asp253=) rs142970498
NM_000126.4(ETFA):c.826A>C (p.Ile276Leu) rs141200145
NM_000126.4(ETFA):c.882+9A>G rs373161597
NM_000128.3(F11):c.1028+9T>C rs376630194
NM_000128.3(F11):c.1200G>A (p.Pro400=) rs150377265
NM_000128.3(F11):c.1305-9G>T rs4253426
NM_000128.3(F11):c.1431C>T (p.Ser477=) rs149568223
NM_000128.3(F11):c.166T>C (p.Cys56Arg) rs121965069
NM_000128.3(F11):c.400C>T (p.Gln134Ter) rs756908183
NM_000128.3(F11):c.731A>G (p.Gln244Arg) rs5969
NM_000128.4(F11):c.1028+9T>G
NM_000128.4(F11):c.1767G>T (p.Leu589=)
NM_000128.4(F11):c.486-10T>A rs370991682
NM_000128.4(F11):c.56-6T>C
NM_000128.4(F11):c.596-6G>A rs369721182
NM_000128.4(F11):c.696T>C (p.His232=) rs746382259
NM_000130.5(F5):c.2241AGA[2] (p.Glu750del) rs575766548
NM_000133.4(F9):c.60A>G (p.Leu20=) rs762082146
NM_000135.2(FANCA):c.3788_3790delTCT (p.Phe1263del) rs397507553
NM_000135.4(FANCA):c.1007-7C>G rs111271660
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs) rs397507552
NM_000135.4(FANCA):c.1371G>T (p.Gly457=) rs369988875
NM_000135.4(FANCA):c.1475A>T (p.His492Leu) rs925457555
NM_000135.4(FANCA):c.1500C>T (p.Pro500=)
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359
NM_000135.4(FANCA):c.1806G>A (p.Ala602=) rs550064744
NM_000135.4(FANCA):c.1815G>A (p.Glu605=) rs773613283
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751
NM_000135.4(FANCA):c.1901-3C>A rs17226526
NM_000135.4(FANCA):c.2015-4G>T rs373954227
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile) rs1131660
NM_000135.4(FANCA):c.2152-10G>C rs557705265
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) rs45441106
NM_000135.4(FANCA):c.2222+7G>A rs374312736
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser) rs575108446
NM_000135.4(FANCA):c.2394C>T (p.Leu798=)
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys) rs76275444
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser) rs370085403
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln) rs755922289
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=) rs55758861
NM_000135.4(FANCA):c.3138C>T (p.His1046=) rs150884376
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp) rs753063086
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=) rs753864057
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile) rs536839082
NM_000135.4(FANCA):c.3348+7G>T rs185527578
NM_000135.4(FANCA):c.3349-1G>A rs769862233
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly) rs149277003
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197
NM_000135.4(FANCA):c.3408+9C>G rs377702890
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) rs142833057
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro) rs147672303
NM_000135.4(FANCA):c.3627-8T>G rs77877981
NM_000135.4(FANCA):c.3723C>T (p.Asn1241=) rs202107465
NM_000135.4(FANCA):c.3801C>T (p.Gly1267=) rs143772894
NM_000135.4(FANCA):c.3858C>T (p.His1286=) rs761705192
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354
NM_000135.4(FANCA):c.3935-6T>C rs368376237
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His) rs149851163
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=) rs142784426
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246
NM_000135.4(FANCA):c.582A>G (p.Gln194=) rs748517164
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter) rs761341952
NM_000135.4(FANCA):c.688G>A (p.Val230Ile) rs144560850
NM_000135.4(FANCA):c.709+5G>A rs759877008
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly) rs17225943
NM_000135.4(FANCA):c.793-9T>C rs757500718
NM_000135.4(FANCA):c.837C>T (p.Asp279=) rs752311383
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg) rs13336566
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942
NM_000136.3(FANCC):c.1281C>T (p.Ala427=) rs754604606
NM_000136.3(FANCC):c.609C>T (p.Leu203=) rs567226063
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259
NM_000136.3(FANCC):c.705C>T (p.Pro235=) rs141828876
NM_000136.3(FANCC):c.843+1G>A rs587779909
NM_000136.3(FANCC):c.996+1G>A rs370510954
NM_000137.3(FAH):c.1009G>A (p.Gly337Ser) rs80338900
NM_000137.3(FAH):c.1098G>A (p.Ser366=) rs35033541
NM_000137.3(FAH):c.1205G>A (p.Arg402His) rs147796599
NM_000137.3(FAH):c.192G>T (p.Gln64His) rs80338894
NM_000137.3(FAH):c.1A>G (p.Met1Val) rs1057517972
NM_000137.3(FAH):c.243G>A (p.Ala81=) rs36122289
NM_000137.3(FAH):c.249G>A (p.Val83=) rs370095143
NM_000137.3(FAH):c.296A>G (p.Asp99Gly) rs547847694
NM_000137.3(FAH):c.315-14G>A rs139830755
NM_000137.3(FAH):c.520C>T (p.Arg174Ter) rs781496816
NM_000137.3(FAH):c.553+10C>T rs201051426
NM_000137.3(FAH):c.554-1G>T rs80338895
NM_000137.3(FAH):c.565G>A (p.Val189Ile) rs145389125
NM_000137.3(FAH):c.648C>A (p.Ile216=) rs147016995
NM_000137.3(FAH):c.715A>T (p.Ile239Phe) rs144228661
NM_000137.3(FAH):c.747A>G (p.Pro249=) rs138757552
NM_000137.4(FAH):c.1062+5G>A rs80338901
NM_000137.4(FAH):c.181G>T (p.Val61Phe) rs151264725
NM_000137.4(FAH):c.192+9T>C rs1386784352
NM_000137.4(FAH):c.391C>T (p.Arg131Trp) rs147946196
NM_000137.4(FAH):c.645G>T (p.Pro215=)
NM_000137.4(FAH):c.741C>T (p.Leu247=) rs145851627
NM_000143.3(FH):c.33G>C (p.Ser11=) rs200542051
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000151.4(G6PC1):c.615C>T (p.Ser205=) rs374522795
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999
NM_000151.4(G6PC1):c.879A>G (p.Pro293=) rs529957748
NM_000151.4(G6PC1):c.909C>T (p.Leu303=) rs368282218
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.1076-22T>G rs762260678
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu) rs776008078
NM_000152.5(GAA):c.1317GAT[1] (p.Met440del) rs1555600235
NM_000152.5(GAA):c.131G>T (p.Gly44Val) rs550609502
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858
NM_000152.5(GAA):c.138C>T (p.Ser46=) rs753375900
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) rs770276275
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) rs772883420
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989
NM_000152.5(GAA):c.1636+9G>T rs200302174
NM_000152.5(GAA):c.1827C>T (p.Tyr609=) rs745754277
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) rs781088002
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg) rs549029029
NM_000152.5(GAA):c.1881C>T (p.Ser627=)
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.1933G>C (p.Asp645His) rs368438393
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) rs28940868
NM_000152.5(GAA):c.1941C>T (p.Cys647=) rs776948121
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172
NM_000152.5(GAA):c.2109C>T (p.Tyr703=) rs150728610
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu) rs146762316
NM_000152.5(GAA):c.2190-4G>A rs759974338
NM_000152.5(GAA):c.2207G>A (p.Ser736Asn) rs553430197
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2242dup (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2319C>T (p.Tyr773=) rs377402848
NM_000152.5(GAA):c.2332-10C>G rs373606162
NM_000152.5(GAA):c.2381G>A (p.Arg794His) rs200505871
NM_000152.5(GAA):c.2395C>T (p.His799Tyr) rs143347747
NM_000152.5(GAA):c.2415G>A (p.Val805=) rs150536507
NM_000152.5(GAA):c.2417C>T (p.Thr806Met) rs139850074
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs) rs886043343
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) rs149968110
NM_000152.5(GAA):c.257C>G (p.Pro86Arg) rs2229222
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) rs398123174
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700
NM_000152.5(GAA):c.688G>A (p.Val230Met) rs145866792
NM_000152.5(GAA):c.711G>A (p.Ala237=) rs368328598
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546
NM_000152.5(GAA):c.858+17_858+23del rs1555599723
NM_000152.5(GAA):c.861C>T (p.Pro287=) rs778580823
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887
NM_000153.4(GALC):c.-67T>G rs571945132
NM_000153.4(GALC):c.1110C>T (p.Tyr370=) rs372793797
NM_000153.4(GALC):c.120C>T (p.Gly40=) rs532800656
NM_000153.4(GALC):c.1272G>A (p.Gln424=) rs376675180
NM_000153.4(GALC):c.1489+3G>A rs186664912
NM_000153.4(GALC):c.1541T>C (p.Phe514Ser) rs375867319
NM_000153.4(GALC):c.1573G>A (p.Glu525Lys) rs146286491
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659
NM_000153.4(GALC):c.1587G>A (p.Thr529=) rs184748969
NM_000153.4(GALC):c.1629C>T (p.Ala543=) rs201055535
NM_000153.4(GALC):c.1657G>A (p.Gly553Arg) rs748573754
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626
NM_000153.4(GALC):c.1752A>G (p.Lys584=) rs201016488
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661
NM_000153.4(GALC):c.329-10_329-8del rs770389075
NM_000153.4(GALC):c.41C>G (p.Ala14Gly) rs373587692
NM_000153.4(GALC):c.525C>T (p.Val175=) rs181066089
NM_000153.4(GALC):c.583-4G>T
NM_000153.4(GALC):c.628A>T (p.Arg210Ter) rs202131052
NM_000153.4(GALC):c.658C>T (p.Arg220Ter) rs766310671
NM_000153.4(GALC):c.65G>A (p.Gly22Asp)
NM_000153.4(GALC):c.678T>C (p.Ser226=) rs1595226323
NM_000153.4(GALC):c.749T>C (p.Ile250Thr) rs886039569
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983
NM_000153.4(GALC):c.997G>A (p.Gly333Arg) rs190921137
NM_000154.2(GALK1):c.1044C>T (p.Phe348=) rs372653001
NM_000154.2(GALK1):c.1107+5G>A rs201663491
NM_000154.2(GALK1):c.1116C>T (p.Tyr372=) rs763195503
NM_000154.2(GALK1):c.447G>A (p.Thr149=) rs765744088
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721
NM_000154.2(GALK1):c.611+9C>T rs370204015
NM_000154.2(GALK1):c.66G>A (p.Glu22=) rs367558510
NM_000154.2(GALK1):c.746C>T (p.Ala249Val) rs149825190
NM_000154.2(GALK1):c.747G>A (p.Ala249=) rs140053358
NM_000154.2(GALK1):c.857G>A (p.Arg286Gln) rs145641205
NM_000154.2(GALK1):c.864G>A (p.Thr288=)
NM_000154.2(GALK1):c.934C>T (p.Arg312Cys) rs201972845
NM_000154.2(GALK1):c.935G>A (p.Arg312His) rs181526665
NM_000154.2(GALK1):c.987G>A (p.Val329=) rs184160171
NM_000156.6(GAMT):c.182G>A (p.Gly61Glu) rs77168423
NM_000156.6(GAMT):c.327G>A (p.Lys109=) rs80338735
NM_000156.6(GAMT):c.392-7C>T rs192416474
NM_000156.6(GAMT):c.396C>A (p.Ile132=) rs200500835
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser) rs80338734
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg) rs36099971
NM_000158.4(GBE1):c.1204A>G (p.Thr402Ala)
NM_000158.4(GBE1):c.1335+9C>G rs754084067
NM_000158.4(GBE1):c.1392C>T (p.Leu464=) rs563241317
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys) rs760661724
NM_000158.4(GBE1):c.143+8C>G rs750447886
NM_000158.4(GBE1):c.1521T>C (p.Thr507=) rs372821643
NM_000158.4(GBE1):c.1544G>A (p.Arg515His) rs201958741
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888
NM_000158.4(GBE1):c.2016G>A (p.Glu672=) rs571448518
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys) rs202158511
NM_000158.4(GBE1):c.2074G>A (p.Ala692Thr) rs192877602
NM_000158.4(GBE1):c.333G>A (p.Ser111=) rs374518318
NM_000158.4(GBE1):c.969T>C (p.Asp323=) rs555689284
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000158.4(GBE1):c.990C>T (p.Ser330=) rs371194644
NM_000159.4(GCDH):c.1011A>G (p.Ala337=) rs2229460
NM_000159.4(GCDH):c.1082+8C>T rs199627852
NM_000159.4(GCDH):c.1092C>T (p.Pro364=) rs146363703
NM_000159.4(GCDH):c.1093G>A (p.Glu365Lys) rs121434370
NM_000159.4(GCDH):c.1168G>C (p.Gly390Arg) rs372983141
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln) rs786204626
NM_000159.4(GCDH):c.1287G>A (p.Thr429=) rs141819282
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000159.4(GCDH):c.368A>G (p.Tyr123Cys) rs780976048
NM_000159.4(GCDH):c.383G>A (p.Arg128Gln) rs755586631
NM_000159.4(GCDH):c.38G>A (p.Arg13His) rs550100640
NM_000159.4(GCDH):c.395G>A (p.Arg132Gln) rs200639270
NM_000159.4(GCDH):c.471C>T (p.Ser157=) rs146682905
NM_000159.4(GCDH):c.572T>C (p.Met191Thr) rs149120354
NM_000159.4(GCDH):c.627C>T (p.Thr209=) rs143172809
NM_000159.4(GCDH):c.801C>T (p.Asp267=) rs141293881
NM_000159.4(GCDH):c.852+223C>T rs11085825
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr) rs121434371
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp) rs779315456
NM_000159.4(GCDH):c.957-6A>C rs748270195
NM_000166.6(GJB1):c.14G>T (p.Gly5Val) rs1064793139
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000169.2(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) rs869312162
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala) rs397515869
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489
NM_000170.2(GLDC):c.1156-7C>G rs150095531
NM_000170.2(GLDC):c.1229G>A (p.Arg410Lys) rs144090917
NM_000170.2(GLDC):c.1545G>A (p.Arg515=) rs121964976
NM_000170.2(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000170.2(GLDC):c.1707+8G>A rs144666843
NM_000170.2(GLDC):c.1927-4G>A rs576723612
NM_000170.2(GLDC):c.1940C>T (p.Pro647Leu) rs201135624
NM_000170.2(GLDC):c.2024A>C (p.Asn675Thr) rs749513146
NM_000170.2(GLDC):c.2033_2035del (p.Ala678del) rs769625871
NM_000170.2(GLDC):c.2113G>A (p.Val705Met) rs147275962
NM_000170.2(GLDC):c.2186del (p.Ala729fs) rs386833543
NM_000170.2(GLDC):c.2203G>T (p.Val735Leu) rs143119940
NM_000170.2(GLDC):c.2216G>A (p.Arg739His) rs121964980
NM_000170.2(GLDC):c.2316-13dup rs3215923
NM_000170.2(GLDC):c.2489C>T (p.Thr830Met) rs386833560
NM_000170.2(GLDC):c.262G>A (p.Asp88Asn) rs770826242
NM_000170.2(GLDC):c.2730G>A (p.Ser910=) rs144937031
NM_000170.2(GLDC):c.2748G>A (p.Leu916=) rs139982267
NM_000170.2(GLDC):c.499G>T (p.Glu167Ter) rs191905539
NM_000170.2(GLDC):c.63C>A (p.Arg21=) rs372141443
NM_000170.2(GLDC):c.671G>A (p.Arg224His) rs28617412
NM_000170.2(GLDC):c.806C>T (p.Thr269Met) rs386833587
NM_000170.3(GLDC):c.1210C>T (p.Leu404=) rs781450542
NM_000170.3(GLDC):c.1367G>A (p.Arg456Gln)
NM_000170.3(GLDC):c.1734C>T (p.Asn578=)
NM_000170.3(GLDC):c.1791G>C (p.Glu597Asp)
NM_000170.3(GLDC):c.1926+6T>C rs200007891
NM_000170.3(GLDC):c.1974C>A (p.Ala658=) rs534062853
NM_000170.3(GLDC):c.2307C>T (p.Pro769=) rs565834029
NM_000170.3(GLDC):c.2310C>T (p.Ile770=) rs765661419
NM_000170.3(GLDC):c.2328C>T (p.Leu776=) rs149600380
NM_000170.3(GLDC):c.250C>T (p.Leu84=) rs746606221
NM_000170.3(GLDC):c.258C>T (p.Ser86=) rs562000292
NM_000170.3(GLDC):c.2683A>G rs141152043
NM_000170.3(GLDC):c.2863G>A (p.Val955Ile) rs148540696
NM_000170.3(GLDC):c.2874C>T (p.Ser958=) rs146339375
NM_000170.3(GLDC):c.3002C>A (p.Thr1001Asn) rs555776146
NM_000170.3(GLDC):c.319A>G rs138454333
NM_000170.3(GLDC):c.489A>G (p.Pro163=) rs770044310
NM_000170.3(GLDC):c.576C>G (p.Ala192=) rs768514155
NM_000170.3(GLDC):c.609C>T (p.Ala203=) rs201699152
NM_000170.3(GLDC):c.632A>G (p.Tyr211Cys)
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys) rs2229420
NM_000182.5(HADHA):c.1212G>C (p.Val404=) rs116396996
NM_000182.5(HADHA):c.1793_1794del (p.His598fs) rs769580842
NM_000182.5(HADHA):c.180+3A>G rs781222705
NM_000182.5(HADHA):c.2060T>C (p.Met687Thr) rs149632783
NM_000182.5(HADHA):c.2147-8C>G rs368976628
NM_000182.5(HADHA):c.274_278del (p.Ser92fs) rs781205883
NM_000191.3(HMGCL):c.206_207del (p.Ser69fs) rs752137615
NM_000191.3(HMGCL):c.454G>A (p.Ala152Thr) rs146306707
NM_000191.3(HMGCL):c.501C>T (p.Tyr167=) rs200189529
NM_000191.3(HMGCL):c.528T>C (p.Tyr176=) rs112508527
NM_000191.3(HMGCL):c.765C>T (p.Val255=)
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer) rs779339230
NM_000195.5(HPS1):c.972dup (p.Met325fs) rs281865082
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=) rs150892928
NM_000198.4(HSD3B2):c.308-8G>A rs371712928
NM_000198.4(HSD3B2):c.308-9C>T rs375047799
NM_000198.4(HSD3B2):c.423C>T (p.His141=) rs751470493
NM_000198.4(HSD3B2):c.500C>T (p.Ala167Val) rs35486059
NM_000198.4(HSD3B2):c.501G>A (p.Ala167=) rs6207
NM_000198.4(HSD3B2):c.621C>T (p.Asn207=) rs143758913
NM_000198.4(HSD3B2):c.750T>C (p.Gly250=) rs755461071
NM_000198.4(HSD3B2):c.960A>C (p.Thr320=) rs34412477
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938
NM_000199.5(SGSH):c.1035C>T (p.Gly345=) rs748069998
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=) rs141153056
NM_000199.5(SGSH):c.1302G>A (p.Ala434=) rs376787615
NM_000199.5(SGSH):c.1428C>T (p.His476=) rs139460639
NM_000199.5(SGSH):c.1446C>T (p.Ala482=) rs113679696
NM_000199.5(SGSH):c.144G>A (p.Pro48=) rs145970971
NM_000199.5(SGSH):c.153C>T (p.Asp51=) rs372226239
NM_000199.5(SGSH):c.163C>T (p.Arg55Cys) rs368650877
NM_000199.5(SGSH):c.181C>T (p.Arg61Cys) rs142309764
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000199.5(SGSH):c.2T>C (p.Met1Thr) rs1488660868
NM_000199.5(SGSH):c.303C>T (p.Phe101=) rs150482611
NM_000199.5(SGSH):c.356-6G>A rs764808311
NM_000199.5(SGSH):c.390C>T (p.Thr130=) rs111761143
NM_000199.5(SGSH):c.411G>A (p.Ala137=) rs142557761
NM_000199.5(SGSH):c.432C>T (p.Ser144=) rs200194908
NM_000199.5(SGSH):c.506+9C>T rs376523398
NM_000199.5(SGSH):c.537C>T (p.Asp179=) rs771440037
NM_000199.5(SGSH):c.570C>T (p.Tyr190=) rs149951602
NM_000199.5(SGSH):c.633C>A (p.Thr211=) rs187147954
NM_000199.5(SGSH):c.636C>T (p.Pro212=) rs771680187
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter) rs374621913
NM_000199.5(SGSH):c.6C>T (p.Ser2=) rs1043643087
NM_000199.5(SGSH):c.720C>T (p.Tyr240=)
NM_000199.5(SGSH):c.780C>T (p.Ala260=) rs530964770
NM_000199.5(SGSH):c.792C>T (p.Asn264=) rs147962306
NM_000199.5(SGSH):c.798A>G (p.Thr266=) rs199562202
NM_000199.5(SGSH):c.813G>A (p.Thr271=) rs779676466
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056
NM_000199.5(SGSH):c.89-10C>T rs766929408
NM_000199.5(SGSH):c.89-4G>A rs375536965
NM_000199.5(SGSH):c.93T>C (p.Asp31=) rs982161788
NM_000199.5(SGSH):c.999C>T (p.Tyr333=) rs149139346
NM_000202.8(IDS):c.162T>C (p.Tyr54=) rs141088021
NM_000202.8(IDS):c.23G>T (p.Arg8Leu) rs782621858
NM_000202.8(IDS):c.450G>A (p.Pro150=) rs201892132
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892
NM_000202.8(IDS):c.696C>T (p.Phe232=) rs782498858
NM_000203.5(IDUA):c.1002G>A (p.Leu334=) rs370582480
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly) rs202191662
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val) rs527336882
NM_000203.5(IDUA):c.1186C>T (p.Leu396=) rs1011474273
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro) rs180984980
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg) rs772416503
NM_000203.5(IDUA):c.1525-3dup rs762593235
NM_000203.5(IDUA):c.1800G>A (p.Ser600=) rs763047621
NM_000203.5(IDUA):c.237C>T (p.Ala79=) rs769676234
NM_000203.5(IDUA):c.299+10G>A rs775172497
NM_000203.5(IDUA):c.357C>T (p.Asp119=) rs1262464994
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys) rs200237798
NM_000203.5(IDUA):c.493+7G>A rs200509712
NM_000203.5(IDUA):c.590-7G>A rs762411583
NM_000203.5(IDUA):c.630C>T (p.Arg210=) rs376012666
NM_000203.5(IDUA):c.663C>G (p.Pro221=) rs368553582
NM_000203.5(IDUA):c.667G>A (p.Asp223Asn) rs183347428
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr) rs201826605
NM_000203.5(IDUA):c.793-9C>T rs375798875
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029
NM_000203.5(IDUA):c.981G>T (p.Ala327=) rs372379342
NM_000206.3(IL2RG):c.1042G>A (p.Ala348Thr)
NM_000206.3(IL2RG):c.281C>T (p.Ser94Leu) rs775704953
NM_000206.3(IL2RG):c.282G>A (p.Ser94=) rs142807857
NM_000206.3(IL2RG):c.396C>T (p.Leu132=) rs201840981
NM_000206.3(IL2RG):c.78A>T (p.Thr26=) rs147424359
NM_000206.3(IL2RG):c.87G>A (p.Thr29=) rs779772745
NM_000231.2(SGCG):c.195+4_195+7del rs797045106
NM_000231.2(SGCG):c.267A>G (p.Pro89=) rs149595403
NM_000231.2(SGCG):c.506-7T>G rs774582375
NM_000231.2(SGCG):c.507G>T (p.Gly169=) rs199905729
NM_000231.2(SGCG):c.832G>A (p.Gly278Ser) rs147820869
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423
NM_000232.4(SGCB):c.271C>T (p.Arg91Cys) rs555514820
NM_000232.4(SGCB):c.368A>C (p.Tyr123Ser) rs398123263
NM_000232.5(SGCB):c.341C>T rs150518260
NM_000232.5(SGCB):c.90G>A (p.Arg30=) rs11541942
NM_000235.4(LIPA):c.1009A>G (p.Thr337Ala) rs143793106
NM_000235.4(LIPA):c.1032C>T (p.His344=) rs779601441
NM_000235.4(LIPA):c.1066T>C (p.Leu356=) rs1281069681
NM_000235.4(LIPA):c.1113A>G (p.Glu371=) rs116827211
NM_000235.4(LIPA):c.112-9T>C rs200186130
NM_000235.4(LIPA):c.260G>T (p.Gly87Val) rs587778878
NM_000235.4(LIPA):c.396C>G (p.Leu132=) rs201603238
NM_000235.4(LIPA):c.539-5C>A rs2297472
NM_000235.4(LIPA):c.539-6T>C rs201898154
NM_000235.4(LIPA):c.615C>G (p.Ser205=) rs143930279
NM_000235.4(LIPA):c.615C>T (p.Ser205=) rs143930279
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu) rs147493628
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232
NM_000237.3(LPL):c.290C>T (p.Ala97Val) rs201946950
NM_000237.3(LPL):c.345A>C (p.Ser115=) rs147309575
NM_000237.3(LPL):c.528C>G (p.Val176=) rs199606532
NM_000237.3(LPL):c.786G>A (p.Gln262=) rs140986245
NM_000243.2(MEFV):c.1245C>T (p.Val415=) rs104895195
NM_000243.2(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.2(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.2(MEFV):c.1527C>T (p.Leu509=) rs571832030
NM_000243.2(MEFV):c.1610+10G>T rs11466033
NM_000243.2(MEFV):c.1759+8C>T rs77380520
NM_000243.2(MEFV):c.1760-4G>A rs79662406
NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr) rs11466045
NM_000243.2(MEFV):c.2230G>T rs61732874
NM_000243.2(MEFV):c.2292G>T (p.Gly764=) rs142352887
NM_000243.2(MEFV):c.343C>A (p.Pro115Thr) rs147557169
NM_000243.2(MEFV):c.372C>T (p.Pro124=) rs104895078
NM_000243.2(MEFV):c.405C>T (p.Tyr135=) rs766323718
NM_000243.2(MEFV):c.411C>T (p.Gly137=) rs1266277814
NM_000243.2(MEFV):c.416C>A (p.Ala139Asp) rs575678784
NM_000243.2(MEFV):c.443A>T (p.Glu148Val) rs104895076
NM_000243.2(MEFV):c.48G>A (p.Leu16=) rs777381107
NM_000243.2(MEFV):c.564C>T (p.Pro188=) rs775755423
NM_000243.2(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000243.2(MEFV):c.986G>A (p.Arg329His) rs104895112
NM_000243.3(MEFV):c.1105C>T rs11466023
NM_000243.3(MEFV):c.2040G>A rs28940580
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del) rs104895091
NM_000243.3(MEFV):c.2080A>G rs61752717
NM_000243.3(MEFV):c.2082G>A rs28940578
NM_000243.3(MEFV):c.329T>C rs11466018
NM_000243.3(MEFV):c.442G>C rs3743930
NM_000243.3(MEFV):c.585G>A rs200766991
NM_000246.3(CIITA):c.1149C>T (p.Ala383=) rs748867171
NM_000246.3(CIITA):c.1230G>A (p.Pro410=) rs199476069
NM_000246.3(CIITA):c.1461C>G (p.Ile487Met) rs141202424
NM_000246.3(CIITA):c.1518G>A (p.Ala506=) rs201215476
NM_000246.3(CIITA):c.1527C>T (p.Gly509=) rs1427227633
NM_000246.3(CIITA):c.1542G>A (p.Thr514=) rs2228239
NM_000246.3(CIITA):c.1545C>T (p.Cys515=) rs200146904
NM_000246.3(CIITA):c.1683C>T (p.Asp561=) rs76686583
NM_000246.3(CIITA):c.1731C>T (p.Tyr577=) rs142848848
NM_000246.3(CIITA):c.1791C>G (p.Leu597=) rs201657235
NM_000246.3(CIITA):c.1834A>G (p.Thr612Ala)
NM_000246.3(CIITA):c.1908G>A (p.Thr636=) rs200398959
NM_000246.3(CIITA):c.1926C>T (p.Val642=) rs138376967
NM_000246.3(CIITA):c.2179G>C (p.Glu727Gln) rs548646642
NM_000246.3(CIITA):c.2405G>A (p.Arg802Gln) rs201182990
NM_000246.3(CIITA):c.2617T>C (p.Leu873=) rs368233530
NM_000246.3(CIITA):c.2651G>A (p.Arg884His) rs374443915
NM_000246.3(CIITA):c.2817-10T>C rs75381106
NM_000246.3(CIITA):c.2832G>A (p.Ser944=) rs766538754
NM_000246.3(CIITA):c.2979G>A (p.Ala993=) rs142031278
NM_000246.3(CIITA):c.3003C>T (p.Asp1001=) rs143497260
NM_000246.3(CIITA):c.3150-6C>T rs192219239
NM_000246.3(CIITA):c.3175G>A (p.Val1059Met) rs200742204
NM_000246.3(CIITA):c.3261C>G (p.Ala1087=) rs149640268
NM_000246.3(CIITA):c.460G>A (p.Asp154Asn) rs76923280
NM_000246.3(CIITA):c.772+5G>T rs376221650
NM_000246.3(CIITA):c.772+8C>T rs557455283
NM_000246.3(CIITA):c.772+9G>A rs750572482
NM_000246.3(CIITA):c.931A>G (p.Met311Val) rs140139362
NM_000246.3(CIITA):c.948G>A (p.Thr316=)
NM_000246.4(CIITA):c.2994G>A (p.Lys998=)
NM_000246.4(CIITA):c.3233+7G>A
NM_000246.4(CIITA):c.436+9del
NM_000252.2(MTM1):c.1701C>T (p.Tyr567=) rs587783806
NM_000253.3(MTTP):c.111G>A (p.Thr37=) rs147921439
NM_000253.3(MTTP):c.2043G>A (p.Glu681=) rs145444300
NM_000253.3(MTTP):c.2433G>C (p.Leu811Phe) rs144590904
NM_000253.3(MTTP):c.419A>G (p.Asn140Ser) rs61733140
NM_000253.3(MTTP):c.490A>G (p.Thr164Ala) rs563558722
NM_000253.3(MTTP):c.502G>A (p.Val168Ile) rs61750974
NM_000253.3(MTTP):c.915G>A (p.Ser305=) rs199716549
NM_000253.3(MTTP):c.972G>A (p.Glu324=) rs146953015
NM_000253.4(MTTP):c.2320T>G (p.Ser774Ala)
NM_000255.4(MMUT):c.1333-8C>T rs199555550
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val) rs137958217
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) rs115923556
NM_000255.4(MMUT):c.2082G>A (p.Arg694=) rs752705830
NM_000255.4(MMUT):c.393G>A (p.Gln131=) rs145682249
NM_000255.4(MMUT):c.890C>T (p.Thr297Ile) rs547709692
NM_000260.4(MYO7A):c.133-7C>T rs111033221
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr) rs202080237
NM_000260.4(MYO7A):c.1554+7C>T rs150114658
NM_000260.4(MYO7A):c.1554+8G>A rs111033227
NM_000260.4(MYO7A):c.1605C>T (p.Asn535=) rs111033228
NM_000260.4(MYO7A):c.186G>A (p.Thr62=) rs368267301
NM_000260.4(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile) rs35641839
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.3750+9G>A rs111033252
NM_000260.4(MYO7A):c.4023C>T (p.Pro1341=) rs73495790
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) rs78996818
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe) rs200416912
NM_000260.4(MYO7A):c.4461C>T (p.Asn1487=) rs56174006
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln) rs139889944
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys) rs77625410
NM_000260.4(MYO7A):c.549G>A (p.Ser183=) rs188198404
NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=) rs45450893
NM_000260.4(MYO7A):c.5648G>A (p.Arg1883Gln) rs111033215
NM_000260.4(MYO7A):c.5835C>T (p.Leu1945=) rs111033476
NM_000260.4(MYO7A):c.5904C>T (p.His1968=) rs41298753
NM_000260.4(MYO7A):c.905G>A (p.Arg302His) rs41298135
NM_000260.4(MYO7A):c.93C>T (p.Cys31=) rs35689081
NM_000263.4(NAGLU):c.1119G>T (p.Val373=) rs371656965
NM_000263.4(NAGLU):c.1241A>G (p.His414Arg) rs768814260
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=) rs150905331
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=) rs115166595
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=) rs151013014
NM_000263.4(NAGLU):c.2021G>A (p.Arg674His) rs104894590
NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys) rs753520553
NM_000263.4(NAGLU):c.675G>T (p.Leu225=) rs115680529
NM_000271.5(NPC1):c.1011G>T (p.Arg337=) rs147795644
NM_000271.5(NPC1):c.1089G>T (p.Ala363=)
NM_000271.5(NPC1):c.1371T>C (p.Tyr457=) rs779065920
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr) rs1555636659
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557
NM_000271.5(NPC1):c.1561G>T (p.Ala521Ser) rs138184115
NM_000271.5(NPC1):c.1819C>A (p.Arg607=) rs377130051
NM_000271.5(NPC1):c.1990G>A (p.Val664Met) rs376213990
NM_000271.5(NPC1):c.2130+10C>G rs776389852
NM_000271.5(NPC1):c.2246-6C>T rs757950161
NM_000271.5(NPC1):c.2324A>C (p.Gln775Pro) rs80358253
NM_000271.5(NPC1):c.2347T>C (p.Leu783=) rs200384578
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe) rs145362908
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu) rs143124972
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly) rs1057517978
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.5(NPC1):c.3107C>T (p.Thr1036Met) rs28942104
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840
NM_000271.5(NPC1):c.3246-8C>T rs145227129
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr) rs1338658857
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=) rs116436235
NM_000271.5(NPC1):c.3477+4A>G rs114073738
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.410C>T (p.Thr137Met) rs372947142
NM_000271.5(NPC1):c.501A>G (p.Ser167=) rs202148667
NM_000271.5(NPC1):c.540C>T (p.Asp180=) rs143656971
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026
NM_000271.5(NPC1):c.956-10G>A rs755660832
NM_000271.5(NPC1):c.973_974dup (p.Asp325fs) rs886044580
NM_000274.3(OAT):c.736C>T (p.Leu246=) rs146882296
NM_000274.3(OAT):c.969C>T (p.Tyr323=) rs138895801
NM_000274.4(OAT):c.1015-5C>T rs764963374
NM_000274.4(OAT):c.1015-6A>G rs561800688
NM_000274.4(OAT):c.107G>C (p.Gly36Ala) rs140786333
NM_000274.4(OAT):c.521-6T>G rs369018496
NM_000277.3(PAH):c.1010G>A (p.Gly337Glu) rs62517206
NM_000277.3(PAH):c.1033G>T (p.Ala345Ser) rs62516062
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) rs62508646
NM_000277.3(PAH):c.1089del (p.Lys363fs) rs5030654
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.1140G>A (p.Thr380=) rs373763334
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856
NM_000277.3(PAH):c.1199+1G>A rs62509015
NM_000277.3(PAH):c.1199+1G>C rs62509015
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786
NM_000277.3(PAH):c.1A>G (p.Met1Val) rs62514891
NM_000277.3(PAH):c.204A>T (p.Arg68Ser) rs76394784
NM_000277.3(PAH):c.212G>A (p.Arg71His) rs62508695
NM_000277.3(PAH):c.281TCA[1] (p.Ile95del) rs62508727
NM_000277.3(PAH):c.353-7_353-5dup rs1452763334
NM_000277.3(PAH):c.399T>C (p.Asn133=) rs145692106
NM_000277.3(PAH):c.434A>T (p.Asp145Val) rs140175796
NM_000277.3(PAH):c.438C>T (p.His146=) rs191142120
NM_000277.3(PAH):c.441+1G>A rs62517166
NM_000277.3(PAH):c.441+5G>T rs62507321
NM_000277.3(PAH):c.442G>A (p.Gly148Ser) rs80297647
NM_000277.3(PAH):c.456T>C (p.Pro152=) rs377244118
NM_000277.3(PAH):c.47_48del (p.Leu15_Ser16insTer) rs62642906
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679
NM_000277.3(PAH):c.527G>T (p.Arg176Leu) rs74486803
NM_000277.3(PAH):c.529G>A (p.Val177Met) rs199475602
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336
NM_000277.3(PAH):c.601C>T (p.His201Tyr) rs62517205
NM_000277.3(PAH):c.638T>C (p.Leu213Pro) rs62516109
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_000277.3(PAH):c.806del (p.Ile269fs) rs62508687
NM_000277.3(PAH):c.820A>G (p.Lys274Glu) rs142934616
NM_000277.3(PAH):c.842+1G>A rs5030852
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851
NM_000277.3(PAH):c.870T>C (p.His290=)
NM_000277.3(PAH):c.912+1G>A rs62514956
NM_000277.3(PAH):c.913-7A>G rs62517165
NM_000277.3(PAH):c.916A>G (p.Ile306Val) rs62642934
NM_000277.3(PAH):c.926C>T (p.Ala309Val) rs62642935
NM_000277.3(PAH):c.929C>T (p.Ser310Phe) rs62642913
NM_000277.3(PAH):c.963C>T (p.Leu321=) rs61747292
NM_000277.3(PAH):c.965C>G (p.Ala322Gly) rs62514958
NM_000277.3(PAH):c.968_970del (p.Thr323del) rs199475618
NM_000282.4(PCCA):c.1002C>T (p.Thr334=) rs150106872
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359
NM_000282.4(PCCA):c.1429+7A>G rs16957276
NM_000282.4(PCCA):c.145C>T (p.Arg49Cys) rs148651921
NM_000282.4(PCCA):c.1651G>T (p.Val551Phe) rs61749895
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000282.4(PCCA):c.1850T>C (p.Leu617Pro) rs563417983
NM_000282.4(PCCA):c.1884G>A (p.Gln628=) rs552141237
NM_000282.4(PCCA):c.1896A>G (p.Thr632=) rs61760965
NM_000282.4(PCCA):c.1929C>T (p.Ala643=) rs772945583
NM_000282.4(PCCA):c.2037C>T (p.Asp679=) rs146870931
NM_000282.4(PCCA):c.2055A>G (p.Gln685=) rs147568036
NM_000282.4(PCCA):c.2172C>T (p.Leu724=) rs150352833
NM_000282.4(PCCA):c.36C>T (p.Val12=) rs375516917
NM_000282.4(PCCA):c.490A>G (p.Ile164Val) rs539693612
NM_000282.4(PCCA):c.54G>A (p.Gly18=) rs1373903905
NM_000282.4(PCCA):c.660C>T (p.Ala220=) rs145826296
NM_000282.4(PCCA):c.722del (p.Gly241fs) rs745571507
NM_000282.4(PCCA):c.825A>G (p.Leu275=) rs376560248
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg) rs1444049793
NM_000282.4(PCCA):c.914+8T>A rs543352333
NM_000282.4(PCCA):c.929C>G (p.Ala310Gly) rs146927771
NM_000282.4(PCCA):c.999G>A (p.Gly333=)
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn) rs199879809
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137
NM_000284.4(PDHA1):c.870C>T (p.His290=) rs761411007
NM_000287.4(PEX6):c.1234-8_1234-7dup rs200121485
NM_000288.4(PEX7):c.340-10A>G rs267608255
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137
NM_000288.4(PEX7):c.903+1G>C rs148591292
NM_000289.6(PFKM):c.1063-5C>T rs758178966
NM_000289.6(PFKM):c.1338G>A (p.Gly446=) rs150378513
NM_000289.6(PFKM):c.1770C>T (p.Ala590=) rs751097669
NM_000289.6(PFKM):c.237+1G>A rs202143236
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr) rs140473672
NM_000289.6(PFKM):c.453G>A (p.Thr151=) rs144370737
NM_000289.6(PFKM):c.468G>C (p.Leu156=)
NM_000289.6(PFKM):c.978G>A (p.Glu326=) rs550083752
NM_000303.3(PMM2):c.110A>T (p.Gln37Leu) rs2304472
NM_000303.3(PMM2):c.24del (p.Cys9fs) rs768021123
NM_000303.3(PMM2):c.255+2T>C rs139716296
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu) rs80338700
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.3(PMM2):c.441C>T (p.Leu147=) rs146990448
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp) rs104894526
NM_000303.3(PMM2):c.623G>C (p.Gly208Ala) rs398123309
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141
NM_000303.3(PMM2):c.691G>A (p.Val231Met) rs80338707
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709
NM_000310.3(PPT1):c.29T>A (p.Leu10Ter) rs137852699
NM_000310.3(PPT1):c.364A>T (p.Arg122Trp) rs137852695
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000310.3(PPT1):c.535C>T (p.Arg179Cys) rs560471003
NM_000310.3(PPT1):c.904A>G (p.Ile302Val) rs146902902
NM_000349.3(STAR):c.120G>A (p.Leu40=) rs138786388
NM_000349.3(STAR):c.141G>A (p.Thr47=) rs147318238
NM_000349.3(STAR):c.361C>T (p.Arg121Trp) rs34908868
NM_000349.3(STAR):c.504C>T (p.His168=) rs147138315
NM_000349.3(STAR):c.545G>A (p.Arg182His) rs104894086
NM_000349.3(STAR):c.687G>A (p.Pro229=) rs35852516
NM_000352.5(ABCC8):c.1924-10C>T rs200823913
NM_000352.5(ABCC8):c.2041-12C>T rs201419039
NM_000352.6(ABCC8):c.105G>A (p.Pro35=) rs199925058
NM_000352.6(ABCC8):c.1095C>T (p.Ala365=) rs1256418853
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669
NM_000352.6(ABCC8):c.1512C>T (p.Arg504=) rs148811815
NM_000352.6(ABCC8):c.1536C>T (p.Tyr512=) rs765090096
NM_000352.6(ABCC8):c.1644G>T (p.Thr548=) rs565996783
NM_000352.6(ABCC8):c.1686C>T (p.His562=) rs1799857
NM_000352.6(ABCC8):c.1818-6G>A rs368708177
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=) rs75376282
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=) rs1799858
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln) rs146378237
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=) rs1801261
NM_000352.6(ABCC8):c.2391-5G>A
NM_000352.6(ABCC8):c.2391-6C>T rs556416038
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=) rs1805036
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) rs111967655
NM_000352.6(ABCC8):c.279C>A (p.Ile93=) rs550990673
NM_000352.6(ABCC8):c.3039G>A (p.Ser1013=) rs17846762
NM_000352.6(ABCC8):c.3111C>T (p.Thr1037=) rs201662945
NM_000352.6(ABCC8):c.3345G>A (p.Thr1115=) rs186634115
NM_000352.6(ABCC8):c.3439C>T (p.Leu1147=) rs372257088
NM_000352.6(ABCC8):c.3462C>T (p.Ala1154=)
NM_000352.6(ABCC8):c.3502T>C (p.Leu1168=)
NM_000352.6(ABCC8):c.3654T>C (p.Tyr1218=)
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=) rs1799859
NM_000352.6(ABCC8):c.3918C>G (p.Leu1306=) rs372186045
NM_000352.6(ABCC8):c.3960C>T (p.Thr1320=) rs137868047
NM_000352.6(ABCC8):c.4104C>T (p.Ile1368=)
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg) rs137852676
NM_000352.6(ABCC8):c.4227C>T (p.Ile1409=) rs146584228
NM_000352.6(ABCC8):c.423G>A (p.Val141=) rs116132921
NM_000352.6(ABCC8):c.4296C>T (p.Ser1432=) rs752222583
NM_000352.6(ABCC8):c.4581C>T (p.Phe1527=) rs773042150
NM_000352.6(ABCC8):c.4656G>A (p.Lys1552=) rs145386421
NM_000352.6(ABCC8):c.4703G>A (p.Arg1568Gln) rs374743072
NM_000352.6(ABCC8):c.4713C>T (p.Ser1571=)
NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=) rs73419228
NM_000352.6(ABCC8):c.487G>A (p.Gly163Ser) rs574487898
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406
NM_000359.3(TGM1):c.1113C>T (p.Ser371=) rs61747601
NM_000359.3(TGM1):c.125C>A (p.Ser42Tyr) rs41295338
NM_000359.3(TGM1):c.1298+9G>A rs201015655
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232
NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly) rs142404759
NM_000359.3(TGM1):c.167C>T (p.Ala56Val) rs147479810
NM_000359.3(TGM1):c.168G>A (p.Ala56=) rs79251149
NM_000359.3(TGM1):c.1761C>T (p.Asp587=) rs751201972
NM_000359.3(TGM1):c.177C>T (p.Asp59=) rs8193031
NM_000359.3(TGM1):c.2405A>T (p.Asp802Val) rs2228337
NM_000359.3(TGM1):c.270T>A (p.Pro90=) rs201400055
NM_000359.3(TGM1):c.365C>T (p.Ser122Leu) rs141486741
NM_000359.3(TGM1):c.383A>G (p.Glu128Gly) rs138592626
NM_000359.3(TGM1):c.429C>T (p.Arg143=) rs144989372
NM_000359.3(TGM1):c.432G>A (p.Gly144=) rs141559048
NM_000359.3(TGM1):c.61A>G (p.Thr21Ala) rs140542428
NM_000359.3(TGM1):c.832G>A (p.Gly278Arg) rs121918725
NM_000359.3(TGM1):c.885C>T (p.His295=) rs186352813
NM_000359.3(TGM1):c.919C>T (p.Arg307Trp) rs121918731
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu) rs143473912
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln) rs121918717
NM_000360.4(TH):c.1170C>G (p.Ala390=) rs199839852
NM_000360.4(TH):c.1200+9C>T rs11564717
NM_000360.4(TH):c.120C>T (p.Ser40=)
NM_000360.4(TH):c.1228C>A (p.Arg410=) rs575326605
NM_000360.4(TH):c.1255G>A (p.Val419Met) rs184106392
NM_000360.4(TH):c.126C>A (p.Ile42=) rs755664117
NM_000360.4(TH):c.1368C>T (p.Ser456=) rs45538536
NM_000360.4(TH):c.1383G>A (p.Pro461=)
NM_000360.4(TH):c.1398C>T (p.Ile466=) rs118175546
NM_000360.4(TH):c.1401C>T (p.Asp467=) rs3842724
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471
NM_000360.4(TH):c.363G>A (p.Pro121=) rs370429316
NM_000360.4(TH):c.364C>T (p.Arg122Ter) rs771610752
NM_000360.4(TH):c.594G>T (p.Val198=) rs544661832
NM_000360.4(TH):c.5C>T (p.Pro2Leu) rs139474171
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892
NM_000360.4(TH):c.627C>G (p.Ile209Met) rs202149985
NM_000360.4(TH):c.648C>T (p.Gly216=) rs774810612
NM_000360.4(TH):c.679G>A (p.Glu227Lys) rs536382000
NM_000360.4(TH):c.81G>T (p.Glu27Asp) rs139742336
NM_000360.4(TH):c.897C>T (p.Phe299=) rs76719766
NM_000360.4(TH):c.91-828C>T rs764689284
NM_000360.4(TH):c.977+9G>C
NM_000360.4(TH):c.978-6G>A
NM_000370.3(TTPA):c.2T>C (p.Met1Thr) rs786204758
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr) rs143010236
NM_000370.3(TTPA):c.36G>T (p.Pro12=) rs773911591
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter) rs121917851
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs) rs397515379
NM_000370.3(TTPA):c.744del (p.Glu249fs) rs397515377
NM_000382.3(ALDH3A2):c.1157A>G (p.Asn386Ser) rs72547575
NM_000382.3(ALDH3A2):c.1188T>G (p.Ser396=) rs144496536
NM_000382.3(ALDH3A2):c.119A>G (p.Asp40Gly) rs147190807
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser) rs61737992
NM_000382.3(ALDH3A2):c.1398C>T (p.Leu466=) rs150927045
NM_000382.3(ALDH3A2):c.25_50del (p.Arg9fs) rs767751416
NM_000382.3(ALDH3A2):c.417G>A (p.Leu139=) rs200806435
NM_000382.3(ALDH3A2):c.529C>T (p.Arg177Ter) rs72547561
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met) rs72547562
NM_000383.4(AIRE):c.1095+10C>T rs372932833
NM_000383.4(AIRE):c.1095+2T>C rs760280615
NM_000383.4(AIRE):c.1323G>A (p.Thr441=) rs201945690
NM_000383.4(AIRE):c.1338T>C (p.Cys446=)
NM_000383.4(AIRE):c.1347C>T (p.Cys449=) rs367619299
NM_000383.4(AIRE):c.1398C>T (p.Pro466=) rs1402673356
NM_000383.4(AIRE):c.1400+7G>C rs781592443
NM_000383.4(AIRE):c.1476C>A (p.Pro492=) rs72650679
NM_000383.4(AIRE):c.156G>A (p.Lys52=) rs144396624
NM_000383.4(AIRE):c.342G>T (p.Lys114Asn) rs142788946
NM_000383.4(AIRE):c.351C>T (p.Ala117=) rs201929488
NM_000383.4(AIRE):c.354C>G (p.Val118=) rs528667089
NM_000383.4(AIRE):c.447G>A (p.Arg149=) rs374704178
NM_000383.4(AIRE):c.538+7G>A rs575144370
NM_000383.4(AIRE):c.755C>T (p.Pro252Leu) rs34397615
NM_000383.4(AIRE):c.840C>T (p.Pro280=) rs772423300
NM_000383.4(AIRE):c.880-7G>A rs141955483
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000391.4(TPP1):c.1033A>C (p.Met345Leu) rs141482368
NM_000391.4(TPP1):c.1044C>T (p.Ala348=) rs35706972
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu) rs121908202
NM_000391.4(TPP1):c.1494C>T (p.Pro498=) rs117942457
NM_000391.4(TPP1):c.1552-9C>T rs369699167
NM_000391.4(TPP1):c.381-10dup rs146315473
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036
NM_000396.4(CTSK):c.-1-9C>T rs200480574
NM_000396.4(CTSK):c.169A>G (p.Ile57Val) rs201446793
NM_000396.4(CTSK):c.244-10_244-8del rs774922287
NM_000396.4(CTSK):c.675A>G (p.Arg225=) rs41271965
NM_000396.4(CTSK):c.684C>T (p.Pro228=) rs142097792
NM_000396.4(CTSK):c.721C>T (p.Arg241Ter) rs74315303
NM_000397.4(CYBB):c.855G>A (p.Leu285=) rs782293433
NM_000397.4(CYBB):c.948G>T (p.Gly316=) rs139761069
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys) rs766199971
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg) rs184492796
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser) rs1143650
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer) rs758055753
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995
NM_000441.2(SLC26A4):c.-66C>G rs17154282
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849
NM_000441.2(SLC26A4):c.1002-9A>C rs10234822
NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr) rs145467740
NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val) rs786204474
NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly) rs111033244
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.1264-1G>C rs111033311
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) rs756969021
NM_000441.2(SLC26A4):c.1491T>C (p.Gly497=) rs150860491
NM_000441.2(SLC26A4):c.1544+9C>T rs368970459
NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His) rs111033254
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457
NM_000441.2(SLC26A4):c.1920G>A (p.Trp640Ter) rs368119540
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu) rs199588131
NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu) rs111033309
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter) rs752807925
NM_000441.2(SLC26A4):c.2130C>T (p.Asp710=) rs17154347
NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met) rs143708308
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His) rs142723249
NM_000441.2(SLC26A4):c.225C>G (p.Leu75=) rs187447337
NM_000441.2(SLC26A4):c.365dup (p.Ile124fs) rs786204730
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848
NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp) rs111033256
NM_000441.2(SLC26A4):c.849G>C (p.Met283Ile) rs146348818
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu) rs111033304
NM_000441.2(SLC26A4):c.919-2A>G rs111033313
NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr) rs36039758
NM_000466.3(PEX1):c.1077G>A (p.Lys359=) rs138905930
NM_000466.3(PEX1):c.1284C>T (p.Ala428=) rs145153467
NM_000466.3(PEX1):c.130-9T>C rs377337949
NM_000466.3(PEX1):c.1324C>T (p.Pro442Ser) rs560969584
NM_000466.3(PEX1):c.1360-7C>T rs371890000
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp) rs565049190
NM_000466.3(PEX1):c.147G>A (p.Val49=) rs202230667
NM_000466.3(PEX1):c.1725G>A (p.Leu575=) rs150667796
NM_000466.3(PEX1):c.1815A>G (p.Lys605=) rs112688556
NM_000466.3(PEX1):c.1952_1960dup (p.Met654_Gln655insThrValTrp) rs398123408
NM_000466.3(PEX1):c.2558T>C (p.Met853Thr) rs143283146
NM_000466.3(PEX1):c.2784-7T>C rs777893142
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp) rs144825021
NM_000466.3(PEX1):c.2941G>A (p.Ala981Thr) rs566068815
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=) rs140963147
NM_000466.3(PEX1):c.831G>A (p.Gln277=) rs1210178752
NM_000478.6(ALPL):c.1002C>T (p.Gly334=) rs370122334
NM_000478.6(ALPL):c.1017dup (p.His340fs) rs764908423
NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys) rs371243939
NM_000478.6(ALPL):c.1171del (p.Arg391fs) rs751404811
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr) rs121918013
NM_000478.6(ALPL):c.472+12del rs35423948
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007
NM_000478.6(ALPL):c.612C>T (p.Ile204=) rs141448778
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu) rs121918010
NM_000478.6(ALPL):c.98C>T (p.Ala33Val) rs121918005
NM_000481.3(AMT):c.471+2T>C rs386833684
NM_000481.3(AMT):c.878-1G>A rs181134220
NM_000481.4(AMT):c.1062C>A (p.Pro354=) rs377227163
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln) rs141246107
NM_000481.4(AMT):c.148G>T (p.Val50Leu) rs148917929
NM_000481.4(AMT):c.217C>T (p.Arg73Cys) rs386833679
NM_000481.4(AMT):c.354G>A (p.Leu118=) rs145194293
NM_000481.4(AMT):c.363C>T (p.Asn121=) rs367604855
NM_000481.4(AMT):c.471+9C>T rs760770619
NM_000481.4(AMT):c.555C>T (p.Pro185=) rs144790394
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290
NM_000481.4(AMT):c.664C>T (p.Arg222Cys) rs781466698
NM_000481.4(AMT):c.959G>A (p.Arg320His) rs121964985
NM_000481.4(AMT):c.961G>A (p.Val321Met) rs149457059
NM_000487.6(ARSA):c.*96A>G rs6151429
NM_000487.6(ARSA):c.1002C>T (p.Ser334=) rs147027229
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421
NM_000487.6(ARSA):c.1107+9G>A rs768146306
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp) rs74315480
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys) rs148352371
NM_000487.6(ARSA):c.1493G>A (p.Arg498His) rs6151428
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) rs74315458
NM_000487.6(ARSA):c.418dup (p.His140fs) rs745884435
NM_000487.6(ARSA):c.465+1G>A rs80338815
NM_000487.6(ARSA):c.466-7G>C rs6151414
NM_000487.6(ARSA):c.474C>A (p.Cys158Ter) rs768028181
NM_000487.6(ARSA):c.510C>T (p.Cys170=) rs1483727422
NM_000487.6(ARSA):c.530G>A (p.Gly177Asp) rs556812341
NM_000487.6(ARSA):c.558C>T (p.Asn186=) rs574416131
NM_000487.6(ARSA):c.624T>C (p.His208=) rs113990230
NM_000487.6(ARSA):c.641C>T (p.Ala214Val) rs74315467
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys) rs74315470
NM_000487.6(ARSA):c.937C>A (p.Arg313=) rs551472773
NM_000487.6(ARSA):c.982G>A (p.Val328Met) rs143994992
NM_000489.5(ATRX):c.1825C>G (p.Pro609Ala) rs186742436
NM_000489.5(ATRX):c.2001G>A (p.Pro667=) rs139997330
NM_000489.5(ATRX):c.2118T>A (p.Ser706Arg) rs782598442
NM_000489.5(ATRX):c.3091G>A (p.Gly1031Ser) rs782781078
NM_000489.5(ATRX):c.3646A>G (p.Ile1216Val) rs782062542
NM_000489.5(ATRX):c.3913A>C (p.Lys1305Gln) rs782708557
NM_000489.5(ATRX):c.5559C>T (p.His1853=) rs1557096973
NM_000489.5(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799
NM_000489.5(ATRX):c.5957-9C>G rs375791318
NM_000489.5(ATRX):c.7435A>G (p.Met2479Val) rs200478641
NM_000489.5(ATRX):c.831C>T (p.Val277=) rs142561199
NM_000489.6(ATRX):c.4710T>C rs781829081
NM_000489.6(ATRX):c.7439G>A (p.Arg2480Lys)
NM_000492.3(CFTR):c.1001G>T (p.Arg334Leu) rs397508137
NM_000492.3(CFTR):c.137C>A (p.Ala46Asp) rs151020603
NM_000492.3(CFTR):c.1475C>T (p.Ser492Phe) rs121909017
NM_000492.3(CFTR):c.1516A>G (p.Ile506Val) rs1800091
NM_000492.3(CFTR):c.1519A>G (p.Ile507Val) rs1801178
NM_000492.3(CFTR):c.164+12T>C rs121908790
NM_000492.3(CFTR):c.1679+9C>G rs775440240
NM_000492.3(CFTR):c.1680A>C (p.Arg560Ser) rs397508267
NM_000492.3(CFTR):c.1724T>A (p.Phe575Tyr) rs773569201
NM_000492.3(CFTR):c.1731C>T (p.Tyr577=) rs55928397
NM_000492.3(CFTR):c.1882G>A (p.Gly628Arg) rs397508316
NM_000492.3(CFTR):c.2421A>G (p.Ile807Met) rs1800103
NM_000492.3(CFTR):c.2620-26A>G rs201716473
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000492.3(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110
NM_000492.3(CFTR):c.3289C>T (p.Arg1097Cys) rs201591901
NM_000492.3(CFTR):c.3429G>A (p.Leu1143=) rs375845215
NM_000492.3(CFTR):c.3558A>G (p.Gln1186=) rs1800121
NM_000492.3(CFTR):c.3659C>T (p.Thr1220Ile) rs1800123
NM_000492.3(CFTR):c.3717+4A>G rs387906362
NM_000492.3(CFTR):c.374T>C (p.Ile125Thr) rs141723617
NM_000492.3(CFTR):c.377G>A (p.Gly126Asp) rs397508609
NM_000492.3(CFTR):c.3806T>A (p.Ile1269Asn) rs1562923253
NM_000492.3(CFTR):c.4004T>C (p.Leu1335Pro) rs397508658
NM_000492.3(CFTR):c.4092G>A (p.Ala1364=) rs148878126
NM_000492.3(CFTR):c.4111G>T (p.Glu1371Ter) rs397508675
NM_000492.3(CFTR):c.4197C>G (p.Leu1399=) rs79688066
NM_000492.3(CFTR):c.4242+10T>C rs138642693
NM_000492.3(CFTR):c.4243-5C>T rs114402068
NM_000492.3(CFTR):c.4296C>T (p.Asn1432=) rs761669740
NM_000492.3(CFTR):c.650A>G (p.Glu217Gly) rs121909046
NM_000492.3(CFTR):c.742A>G (p.Arg248Gly) rs1554380515
NM_000492.3(CFTR):c.869+5G>A rs533959068
NM_000492.3(CFTR):c.869+8G>T rs773933167
NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) rs1800073
NM_000492.3(CFTR):c.958T>G (p.Leu320Val) rs144476686
NM_000492.4(CFTR):c.1040G>A (p.Arg347His) rs77932196
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240
NM_000492.4(CFTR):c.1125A>C rs73215912
NM_000492.4(CFTR):c.137C>T (p.Ala46Val) rs151020603
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.4(CFTR):c.2001C>T (p.His667=) rs772786141
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.4(CFTR):c.2505T>C (p.Asp835=) rs761043298
NM_000492.4(CFTR):c.274-6T>C rs371315549
NM_000492.4(CFTR):c.2820T>G (p.Thr940=) rs60887846
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442
NM_000492.4(CFTR):c.2835G>A rs193922513
NM_000492.4(CFTR):c.3468G>T (p.Leu1156Phe) rs139729994
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro) rs121909041
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe) rs397508635
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn) rs148783445
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079
NM_000492.4(CFTR):c.601G>A (p.Val201Met) rs138338446
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492
NM_000498.3(CYP11B2):c.1041C>T (p.Ala347=) rs369251345
NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala) rs61757294
NM_000498.3(CYP11B2):c.1215T>G (p.Val405=) rs745762132
NM_000498.3(CYP11B2):c.1227G>A (p.Ser409=)
NM_000498.3(CYP11B2):c.1353C>T (p.Leu451=) rs371126595
NM_000498.3(CYP11B2):c.159G>A (p.Leu53=)
NM_000498.3(CYP11B2):c.537C>T (p.Asn179=)
NM_000498.3(CYP11B2):c.596-4G>A rs370388708
NM_000498.3(CYP11B2):c.743T>C (p.Ile248Thr) rs4547
NM_000498.3(CYP11B2):c.955-10G>T
NM_000517.6(HBA2):c.414C>T (p.Thr138=) rs371394396
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886
NM_000518.5(HBB):c.294C>T (p.His98=) rs34515413
NM_000518.5(HBB):c.315+16G>C rs10768683
NM_000518.5(HBB):c.316-125A>G rs63751175
NM_000518.5(HBB):c.402G>C (p.Val134=) rs113082294
NM_000518.5(HBB):c.92G>A (p.Arg31Lys) rs33960103
NM_000520.6(HEXA):c.-4G>A rs766510036
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137
NM_000520.6(HEXA):c.1146+8G>A rs201453018
NM_000520.6(HEXA):c.1216C>T (p.Leu406=) rs140482769
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser) rs575121167
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=) rs587779406
NM_000520.6(HEXA):c.548T>A (p.Leu183His) rs185797496
NM_000520.6(HEXA):c.582G>A (p.Ala194=) rs112614306
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr) rs374524755
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428
NM_000521.4(HEXB):c.1035A>C (p.Pro345=) rs202227927
NM_000521.4(HEXB):c.1051T>C (p.Leu351=) rs114661695
NM_000521.4(HEXB):c.1243-6T>C rs759404927
NM_000521.4(HEXB):c.1248G>A (p.Ala416=) rs137915238
NM_000521.4(HEXB):c.1572C>T (p.Asp524=) rs770560389
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) rs764552042
NM_000521.4(HEXB):c.1670A>G (p.Ter557=)
NM_000521.4(HEXB):c.42G>A (p.Leu14=) rs1580377030
NM_000525.3(KCNJ11):c.108G>A (p.Val36=) rs112070496
NM_000527.4(LDLR):c.-135C>G
NM_000527.4(LDLR):c.-217C>T rs17249141
NM_000527.4(LDLR):c.1060+9C>T rs540073140
NM_000527.4(LDLR):c.1175G>A (p.Cys392Tyr)
NM_000527.4(LDLR):c.1586+5G>C rs781362878
NM_000527.4(LDLR):c.2388C>T (p.Ile796=) rs543852919
NM_000527.4(LDLR):c.313+1G>A
NM_000527.4(LDLR):c.564C>T (p.Tyr188=) rs121908034
NM_000527.4(LDLR):c.82G>A (p.Glu28Lys) rs551747280
NM_000527.5(LDLR):c.1024G>T (p.Asp342Tyr) rs139361635
NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu) rs780563386
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
NM_000527.5(LDLR):c.1060+10G>C
NM_000527.5(LDLR):c.1066G>A (p.Asp356Asn) rs767767730
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098
NM_000527.5(LDLR):c.1279A>C (p.Arg427=) rs371355878
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.5(LDLR):c.148G>A (p.Ala50Thr) rs137853960
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser) rs758194385
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn) rs201971888
NM_000527.5(LDLR):c.1773C>T (p.Asn591=) rs688
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val) rs555292896
NM_000527.5(LDLR):c.1875C>T (p.Asn625=) rs137853962
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926
NM_000527.5(LDLR):c.1959T>C (p.Val653=) rs5925
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2205C>T (p.Ala735=)
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln) rs200142970
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.2529C>T (p.Asp843=)
NM_000527.5(LDLR):c.313C>T (p.Pro105Ser) rs13306510
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461
NM_000527.5(LDLR):c.396G>A (p.Arg132=)
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_000527.5(LDLR):c.979C>T (p.His327Tyr) rs747507019
NM_000527.5(LDLR):c.981C>T (p.His327=) rs1060499933
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=) rs117880912
NM_000528.4(MAN2B1):c.1109+10G>A
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=) rs112829030
NM_000528.4(MAN2B1):c.1209C>A (p.Arg403=) rs559827776
NM_000528.4(MAN2B1):c.1398G>T (p.Ala466=) rs774396746
NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter) rs1057516927
NM_000528.4(MAN2B1):c.1779A>G (p.Pro593=) rs146778702
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys) rs145062583
NM_000528.4(MAN2B1):c.1830+1G>C rs80338677
NM_000528.4(MAN2B1):c.1850A>G (p.Asp617Gly) rs370382032
NM_000528.4(MAN2B1):c.2047-4G>A rs768347546
NM_000528.4(MAN2B1):c.2047-5C>T rs200424566
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys) rs141212446
NM_000528.4(MAN2B1):c.2267+3dup rs572289342
NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter) rs121434331
NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=) rs1008745697
NM_000528.4(MAN2B1):c.2404A>G (p.Ser802Gly) rs141391488
NM_000528.4(MAN2B1):c.2409C>T (p.Ser803=) rs147850230
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681
NM_000528.4(MAN2B1):c.2437-5C>G rs200695002
NM_000528.4(MAN2B1):c.2622T>C (p.Gly874=)
NM_000528.4(MAN2B1):c.2670A>G (p.Ser890=) rs199606152
NM_000528.4(MAN2B1):c.2748C>T (p.Arg916=) rs1184081650
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=) rs148945108
NM_000528.4(MAN2B1):c.419G>A (p.Arg140Gln) rs139281846
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser) rs200164758
NM_000528.4(MAN2B1):c.474C>T (p.Asn158=) rs146331898
NM_000528.4(MAN2B1):c.719G>A (p.Arg240Gln) rs11554970
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu) rs117843968
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu) rs746808159
NM_000528.4(MAN2B1):c.81C>T (p.Ala27=) rs1407475487
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=) rs139218045
NM_000531.6(OTC):c.118C>T (p.Arg40Cys) rs72554307
NM_000531.6(OTC):c.216+9C>T rs774764719
NM_000531.6(OTC):c.298+5G>C rs72554348
NM_000532.5(PCCB):c.1215C>T (p.Tyr405=) rs191375566
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln) rs778742647
NM_000532.5(PCCB):c.1283C>T (p.Thr428Ile) rs111033542
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val) rs751538672
NM_000532.5(PCCB):c.138G>C (p.Ala46=) rs145075817
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg) rs145628302
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val) rs142403318
NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys) rs186710233
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln) rs577625696
NM_000532.5(PCCB):c.180G>A (p.Lys60=) rs140636870
NM_000532.5(PCCB):c.331C>T (p.Arg111Ter) rs753981900
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln) rs138246328
NM_000532.5(PCCB):c.429+7G>A rs201986472
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747
NM_000532.5(PCCB):c.544-5G>C rs372351800
NM_000532.5(PCCB):c.561C>T (p.Ser187=) rs145057852
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096
NM_000532.5(PCCB):c.763+10C>G rs180982841
NM_000532.5(PCCB):c.774C>G (p.His258Gln) rs141615209
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106
NM_000532.5(PCCB):c.882C>T (p.Pro294=) rs142730126
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys) rs549397464
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter) rs572246667
NM_000536.4(RAG2):c.1074G>A (p.Glu358=)
NM_000536.4(RAG2):c.1095T>C (p.Ser365=) rs140519815
NM_000536.4(RAG2):c.1391G>A (p.Arg464His) rs147748696
NM_000536.4(RAG2):c.22G>A (p.Val8Ile) rs150762709
NM_000536.4(RAG2):c.477C>T (p.Arg159=) rs141659100
NM_000536.4(RAG2):c.63G>A (p.Leu21=) rs142797325
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe) rs200652683
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001
NM_000543.5(SMPD1):c.253G>A (p.Gly85Arg) rs368200803
NM_000543.5(SMPD1):c.297C>G (p.Thr99=) rs146630228
NM_000543.5(SMPD1):c.318+7A>G
NM_000543.5(SMPD1):c.373C>T (p.Leu125=) rs370048730
NM_000543.5(SMPD1):c.689G>A (p.Arg230His) rs141387770
NM_000543.5(SMPD1):c.708G>A (p.Pro236=) rs374604948
NM_000543.5(SMPD1):c.729C>T (p.Ala243=) rs149476159
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser) rs587779408
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701
NM_000642.3(AGL):c.1222C>T (p.Arg408Ter) rs113994128
NM_000642.3(AGL):c.1384del (p.Trp461_Val462insTer) rs786204678
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166
NM_000642.3(AGL):c.1759C>T (p.His587Tyr) rs139488862
NM_000642.3(AGL):c.18_19del (p.Gln6fs) rs113994127
NM_000642.3(AGL):c.1908A>G (p.Ser636=) rs144723143
NM_000642.3(AGL):c.22del (p.Arg8fs) rs1215043175
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser) rs149210307
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe) rs150441555
NM_000642.3(AGL):c.2590C>T (p.Arg864Ter) rs113994130
NM_000642.3(AGL):c.3216_3217del (p.Glu1072fs) rs771069887
NM_000642.3(AGL):c.3231G>A (p.Lys1077=) rs138063386
NM_000642.3(AGL):c.3345A>T (p.Gly1115=) rs758265909
NM_000642.3(AGL):c.334A>G (p.Ile112Val) rs147024351
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn) rs2230308
NM_000642.3(AGL):c.344T>C (p.Val115Ala) rs567992352
NM_000642.3(AGL):c.3738A>T (p.Gly1246=) rs780617757
NM_000642.3(AGL):c.3758G>A (p.Arg1253His) rs12043139
NM_000642.3(AGL):c.3816_3817del (p.Gly1273fs) rs867341758
NM_000642.3(AGL):c.3911dup (p.Asn1304fs) rs745757264
NM_000642.3(AGL):c.3965del (p.Val1322fs) rs113994132
NM_000642.3(AGL):c.3980G>A (p.Trp1327Ter) rs267606640
NM_000642.3(AGL):c.443G>A (p.Arg148Lys) rs542885983
NM_000642.3(AGL):c.4456del (p.Ser1486fs) rs113994134
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) rs387906244
NM_000642.3(AGL):c.4575T>A (p.Ile1525=) rs372116308
NM_000642.3(AGL):c.609A>G (p.Lys203=) rs186709388
NM_000642.3(AGL):c.664+3A>G rs370792293
NM_000642.3(AGL):c.684C>T (p.Ile228=) rs961563586
NM_000642.3(AGL):c.82+4A>C rs765098686
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777
NM_000784.4(CYP27A1):c.1184+9G>T rs200457116
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs) rs886041342
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099
NM_000784.4(CYP27A1):c.1263+1G>A rs397515355
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=) rs138596741
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln) rs121908097
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys) rs72551322
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.4(CYP27A1):c.1515G>A (p.Thr505=) rs886656814
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met) rs200604732
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln) rs376230356
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003
NM_000784.4(CYP27A1):c.491G>C (p.Arg164Pro) rs148417330
NM_000784.4(CYP27A1):c.504A>T (p.Pro168=) rs142623022
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln) rs181649030
NM_000784.4(CYP27A1):c.646+4C>T rs191313794
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro) rs201346271
NM_000784.4(CYP27A1):c.702C>T (p.Pro234=) rs371636461
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys) rs149897566
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) rs143600636
NM_000784.4(CYP27A1):c.792G>A (p.Val264=) rs144018609
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619
NM_000784.4(CYP27A1):c.921G>A (p.Val307=) rs147975335
NM_001003722.2(GLE1):c.1964+7G>A rs200856711
NM_001003722.2(GLE1):c.444G>A (p.Arg148=) rs143856051
NM_001003722.2(GLE1):c.643-4A>G rs369804957
NM_001003722.2(GLE1):c.946C>A (p.Arg316=) rs749236753
NM_001007792.1(NTRK1):c.1128C>T (p.Asp376=) rs147438950
NM_001007792.1(NTRK1):c.1129G>C (p.Glu377Gln) rs199826686
NM_001007792.1(NTRK1):c.123-3198C>T rs183517027
NM_001007792.1(NTRK1):c.123-3263G>C rs200815412
NM_001007792.1(NTRK1):c.123-3404C>T rs201472270
NM_001007792.1(NTRK1):c.129C>T (p.Ile43=) rs563296138
NM_001007792.1(NTRK1):c.1365C>T (p.Ile455=) rs373181158
NM_001007792.1(NTRK1):c.1489C>T (p.Leu497=) rs760564817
NM_001007792.1(NTRK1):c.1539G>A (p.Ala513=) rs771010259
NM_001007792.1(NTRK1):c.1670G>A (p.Arg557Gln) rs748133401
NM_001007792.1(NTRK1):c.1697+8C>A rs780424308
NM_001007792.1(NTRK1):c.1698-4del rs1799770
NM_001007792.1(NTRK1):c.1702C>T (p.His568Tyr) rs6336
NM_001007792.1(NTRK1):c.1730G>T (p.Gly577Val) rs6339
NM_001007792.1(NTRK1):c.1887G>A (p.Lys629=) rs553270591
NM_001007792.1(NTRK1):c.2005A>T (p.Thr669Ser) rs200935209
NM_001007792.1(NTRK1):c.267C>T (p.Arg89=) rs149960336
NM_001007792.1(NTRK1):c.414C>T (p.Gly138=) rs144594313
NM_001007792.1(NTRK1):c.734A>C (p.Glu245Ala) rs138533001
NM_001007792.1(NTRK1):c.761-33T>A rs80356674
NM_001007792.1(NTRK1):c.775C>A (p.Gln259Lys) rs137979116
NM_001007792.1(NTRK1):c.864T>C (p.Asn288=) rs769539870
NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro) rs57479434
NM_001017420.3(ESCO2):c.1132-7A>G rs80359862
NM_001017420.3(ESCO2):c.1647T>C (p.Ile549=) rs73568217
NM_001017420.3(ESCO2):c.742A>G (p.Thr248Ala) rs750159862
NM_001017420.3(ESCO2):c.764T>C (p.Phe255Ser) rs141631911
NM_001017420.3(ESCO2):c.867A>G (p.Ser289=) rs535236969
NM_001024688.2(NBN):c.896del (p.Pro299fs) rs587781969
NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=) rs143782439
NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=) rs144654282
NM_001033855.3(DCLRE1C):c.1545A>G (p.Gly515=) rs41300672
NM_001033855.3(DCLRE1C):c.1587A>C (p.Ser529=) rs529177486
NM_001033855.3(DCLRE1C):c.1602C>T (p.Ser534=) rs61745540
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=) rs61749163
NM_001033855.3(DCLRE1C):c.420G>A (p.Ala140=) rs146832860
NM_001033855.3(DCLRE1C):c.915G>A (p.Val305=) rs774772480
NM_001039958.2(MESP2):c.185G>A (p.Arg62Gln) rs566641514
NM_001039958.2(MESP2):c.306C>A (p.His102Gln) rs77473319
NM_001039958.2(MESP2):c.307G>T (p.Glu103Ter) rs71647808
NM_001039958.2(MESP2):c.498C>G (p.Pro166=) rs200336355
NM_001039958.2(MESP2):c.517G>A (p.Ala173Thr)
NM_001039958.2(MESP2):c.561G>A (p.Gly187=) rs767474985
NM_001079866.2(BCS1L):c.201C>T (p.Leu67=) rs142540289
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys) rs377025174
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys) rs121908578
NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn) rs58447305
NM_001079866.2(BCS1L):c.822G>A (p.Pro274=) rs112329020
NM_001126105.2(SLC7A7):c.1185_1188del (p.Ser396fs) rs386833800
NM_001126105.2(SLC7A7):c.1387del (p.Val463fs) rs386833806
NM_001126105.2(SLC7A7):c.1460del (p.Cys487fs) rs386833809
NM_001126106.2(SLC7A7):c.1380C>G (p.Ile460Met) rs139415285
NM_001126106.2(SLC7A7):c.339A>C (p.Gly113=) rs139270936
NM_001126106.4(SLC7A7):c.720A>C rs151261004
NM_001126108.2(SLC12A3):c.1284C>T (p.Thr428=) rs34216426
NM_001126108.2(SLC12A3):c.1386C>T (p.Phe462=) rs142199602
NM_001126108.2(SLC12A3):c.1543A>G (p.Ile515Val) rs554432544
NM_001126108.2(SLC12A3):c.1763C>T (p.Ala588Val) rs121909382
NM_001126108.2(SLC12A3):c.1825+5G>A rs368509876
NM_001126108.2(SLC12A3):c.249G>T (p.Arg83=) rs76750525
NM_001126108.2(SLC12A3):c.2546T>A (p.Leu849His) rs185927948
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro) rs121909379
NM_001126108.2(SLC12A3):c.2793C>T (p.Asn931=) rs13306666
NM_001126108.2(SLC12A3):c.2857-6G>A rs117981500
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg) rs34803727
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606
NM_001126108.2(SLC12A3):c.36C>T (p.Asp12=) rs117987946
NM_001126108.2(SLC12A3):c.774C>T (p.Asn258=) rs111578437
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val) rs142679083
NM_001127207.2(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033
NM_001127671.2(LIFR):c.143-37GT[13] rs10637374
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly) rs139848756
NM_001127671.2(LIFR):c.2498-7G>A rs113078097
NM_001127671.2(LIFR):c.2670+6C>G rs898718526
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=) rs148354076
NM_001127671.2(LIFR):c.3060G>A (p.Glu1020=) rs537706381
NM_001127671.2(LIFR):c.954C>T (p.Thr318=) rs61748202
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu) rs546679270
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp) rs398123787
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter) rs766016391
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile) rs147056383
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln) rs145272777
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp) rs746243052
NM_001130987.2(DYSF):c.5785-7G>A rs753861836
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys) rs121908955
NM_001142604.2(PPT1):c.125-2957dup rs386833634
NM_001142800.2(EYS):c.-337T>A rs145321084
NM_001142800.2(EYS):c.1107C>T (p.Ser369=) rs755023434
NM_001142800.2(EYS):c.151T>C (p.Leu51=)
NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn) rs61753611
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.2137+1G>A rs199740930
NM_001142800.2(EYS):c.2157C>T (p.Cys719=) rs9453148
NM_001142800.2(EYS):c.2500G>A (p.Val834Ile) rs112464110
NM_001142800.2(EYS):c.2553C>T (p.Asn851=) rs771641817
NM_001142800.2(EYS):c.2562C>T (p.Asp854=) rs188011013
NM_001142800.2(EYS):c.2598C>T (p.Cys866=) rs183814213
NM_001142800.2(EYS):c.2733T>C (p.Asn911=) rs75634595
NM_001142800.2(EYS):c.2739G>A (p.Arg913=) rs77020971
NM_001142800.2(EYS):c.334G>A (p.Val112Ile) rs112609906
NM_001142800.2(EYS):c.33G>C (p.Leu11=) rs777361054
NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg) rs374409854
NM_001142800.2(EYS):c.4045C>T (p.Arg1349Ter) rs930421180
NM_001142800.2(EYS):c.4392G>T (p.Gly1464=)
NM_001142800.2(EYS):c.453T>A (p.Val151=) rs373183802
NM_001142800.2(EYS):c.4554A>C (p.Thr1518=) rs772339340
NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val) rs147641443
NM_001142800.2(EYS):c.5025T>C (p.Ser1675=) rs995130689
NM_001142800.2(EYS):c.5104T>C (p.Leu1702=)
NM_001142800.2(EYS):c.5233G>A (p.Asp1745Asn) rs145274061
NM_001142800.2(EYS):c.5329T>C (p.Leu1777=)
NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser) rs199689193
NM_001142800.2(EYS):c.5577C>T (p.Pro1859=) rs747911999
NM_001142800.2(EYS):c.5600C>T (p.Ser1867Phe) rs542339299
NM_001142800.2(EYS):c.5601T>C (p.Ser1867=) rs182322608
NM_001142800.2(EYS):c.5977A>G (p.Thr1993Ala) rs115066356
NM_001142800.2(EYS):c.6025A>G (p.Lys2009Glu) rs559078881
NM_001142800.2(EYS):c.6079-24TC[8] rs35395170
NM_001142800.2(EYS):c.6444A>G (p.Pro2148=) rs556671009
NM_001142800.2(EYS):c.6726-7C>T
NM_001142800.2(EYS):c.6828C>T (p.Ala2276=)
NM_001142800.2(EYS):c.6876T>C (p.Asn2292=)
NM_001142800.2(EYS):c.7284A>C (p.Ser2428=) rs775877185
NM_001142800.2(EYS):c.749-1G>C
NM_001142800.2(EYS):c.777G>A (p.Gln259=) rs78079047
NM_001142800.2(EYS):c.8111T>G (p.Leu2704Ter) rs779983752
NM_001142800.2(EYS):c.8163A>G (p.Gln2721=)
NM_001142800.2(EYS):c.8233+9G>A
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr) rs111991705
NM_001142800.2(EYS):c.9237A>G (p.Leu3079=) rs139944387
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256
NM_001164277.1(SLC37A4):c.467C>T (p.Ala156Val) rs201036248
NM_001164277.1(SLC37A4):c.497G>A (p.Arg166His) rs186476316
NM_001164277.1(SLC37A4):c.611C>T (p.Ser204Phe) rs567419206
NM_001164277.1(SLC37A4):c.742C>T (p.Gln248Ter) rs781784543
NM_001164277.1(SLC37A4):c.781G>A (p.Val261Ile) rs561701030
NM_001164277.1(SLC37A4):c.785+6A>T rs369358436
NM_001164277.1(SLC37A4):c.785-7A>G rs781887799
NM_001164277.1(SLC37A4):c.83G>A (p.Arg28His) rs121908978
NM_001164508.2(NEB):c.1074A>G (p.Lys358=)
NM_001164508.2(NEB):c.21051T>C (p.Pro7017=)
NM_001165927.1(MKS1):c.1358G>A (p.Arg453Gln) rs201619500
NM_001165927.1(MKS1):c.1406G>A (p.Arg469His) rs111315726
NM_001165927.1(MKS1):c.1420_1423dup (p.Thr475fs) rs386834044
NM_001165927.1(MKS1):c.50+258C>T rs369488349
NM_001165927.1(MKS1):c.984G>A (p.Leu328=) rs201998680
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile) rs201614099
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val) rs200289511
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=) rs749351351
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) rs569734777
NM_001195798.2(LDLR):c.1658_1660del (p.Tyr553del) rs1555806019
NM_001201543.2(FAM161A):c.1013G>A (p.Arg338Gln) rs149314387
NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg) rs187695569
NM_001201543.2(FAM161A):c.1959G>T (p.Glu653Asp) rs201052209
NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=) rs138464813
NM_001201543.2(FAM161A):c.423-7C>T rs144455077
NM_001201543.2(FAM161A):c.906A>G (p.Gln302=) rs76110744
NM_001243279.3(ACSF3):c.1127-5T>C rs200245960
NM_001243279.3(ACSF3):c.1127-7C>G rs761564953
NM_001243279.3(ACSF3):c.1242G>A (p.Val414=) rs766713747
NM_001243279.3(ACSF3):c.129C>T (p.Ser43=) rs147915828
NM_001243279.3(ACSF3):c.1398C>T (p.Tyr466=) rs200146632
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln) rs144681140
NM_001243279.3(ACSF3):c.1456G>A (p.Ala486Thr) rs192339782
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) rs147538370
NM_001243279.3(ACSF3):c.1502-4G>A rs111414659
NM_001243279.3(ACSF3):c.1524G>A (p.Pro508=) rs375187216
NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=) rs539500659
NM_001243279.3(ACSF3):c.285G>A (p.Glu95=) rs187962814
NM_001243279.3(ACSF3):c.579G>A (p.Arg193=) rs528237336
NM_001243279.3(ACSF3):c.633C>T (p.Gly211=) rs140941507
NM_001243279.3(ACSF3):c.666+9C>T rs767663198
NM_001243279.3(ACSF3):c.667-9C>T rs369865917
NM_001243279.3(ACSF3):c.672C>T (p.Thr224=) rs150374081
NM_001243279.3(ACSF3):c.823-4G>C rs558325262
NM_001243279.3(ACSF3):c.936C>T (p.His312=) rs202119269
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010
NM_001271208.2(NEB):c.10092C>T (p.Pro3364=) rs768708852
NM_001271208.2(NEB):c.10341G>A (p.Met3447Ile) rs370053963
NM_001271208.2(NEB):c.11025G>A (p.Thr3675=) rs199789085
NM_001271208.2(NEB):c.11034G>A (p.Pro3678=) rs528974814
NM_001271208.2(NEB):c.11133T>C (p.Asp3711=) rs547109690
NM_001271208.2(NEB):c.11182-8T>A rs183088493
NM_001271208.2(NEB):c.11457G>A (p.Val3819=) rs780152095
NM_001271208.2(NEB):c.11559T>C (p.Asn3853=) rs369429046
NM_001271208.2(NEB):c.11627G>A (p.Trp3876Ter) rs776569219
NM_001271208.2(NEB):c.11806-1G>A rs886041851
NM_001271208.2(NEB):c.1182A>C (p.Thr394=) rs186233985
NM_001271208.2(NEB):c.1206C>T (p.Cys402=) rs199695976
NM_001271208.2(NEB):c.12369C>T (p.Ile4123=) rs1277282343
NM_001271208.2(NEB):c.12492A>C (p.Pro4164=) rs1462106212
NM_001271208.2(NEB):c.1258-7C>G rs371265681
NM_001271208.2(NEB):c.12615C>T (p.His4205=) rs1579048021
NM_001271208.2(NEB):c.12640-10C>T rs1264692800
NM_001271208.2(NEB):c.12688A>G (p.Ile4230Val) rs532986882
NM_001271208.2(NEB):c.12723G>A (p.Lys4241=) rs772682280
NM_001271208.2(NEB):c.12770G>A (p.Arg4257His) rs576918934
NM_001271208.2(NEB):c.12873G>A (p.Lys4291=) rs1578940609
NM_001271208.2(NEB):c.12999G>A (p.Thr4333=) rs1384738774
NM_001271208.2(NEB):c.12C>T (p.Asp4=) rs117178114
NM_001271208.2(NEB):c.13056C>T (p.Ser4352=) rs1468240932
NM_001271208.2(NEB):c.13327C>T (p.Leu4443=) rs1578872999
NM_001271208.2(NEB):c.13534G>A (p.Ala4512Thr) rs886038435
NM_001271208.2(NEB):c.13661G>A (p.Ser4554Asn) rs1057522021
NM_001271208.2(NEB):c.13785C>T (p.Ser4595=) rs1578800572
NM_001271208.2(NEB):c.1413C>T (p.Phe471=) rs112958786
NM_001271208.2(NEB):c.153_167dup (p.52_56LAQPA[3]) rs757726895
NM_001271208.2(NEB):c.1675-4C>G rs369915027
NM_001271208.2(NEB):c.17049G>T (p.Ala5683=) rs140688592
NM_001271208.2(NEB):c.17415C>T (p.Tyr5805=) rs555516831
NM_001271208.2(NEB):c.17601G>A (p.Val5867=) rs58263509
NM_001271208.2(NEB):c.17628C>T (p.Leu5876=) rs377183242
NM_001271208.2(NEB):c.17747A>G (p.Lys5916Arg) rs73967567
NM_001271208.2(NEB):c.177G>A (p.Gln59=) rs200990309
NM_001271208.2(NEB):c.17844+7C>T rs373259828
NM_001271208.2(NEB):c.17845-5G>A rs373390654
NM_001271208.2(NEB):c.18064A>G (p.Ile6022Val) rs574746662
NM_001271208.2(NEB):c.18144C>T (p.Asp6048=) rs1319860549
NM_001271208.2(NEB):c.18224A>C (p.His6075Pro) rs768813228
NM_001271208.2(NEB):c.18366+9G>A rs759834773
NM_001271208.2(NEB):c.1839C>T (p.Ser613=) rs751976783
NM_001271208.2(NEB):c.18410C>T (p.Thr6137Met) rs201462794
NM_001271208.2(NEB):c.18530G>A (p.Arg6177His) rs147159176
NM_001271208.2(NEB):c.18531C>T (p.Arg6177=) rs541088387
NM_001271208.2(NEB):c.1856A>G (p.Lys619Arg) rs147305883
NM_001271208.2(NEB):c.18800T>C (p.Leu6267Pro) rs184723737
NM_001271208.2(NEB):c.18885G>A (p.Leu6295=) rs141925015
NM_001271208.2(NEB):c.1899A>T (p.Arg633Ser) rs77826191
NM_001271208.2(NEB):c.19056G>T (p.Thr6352=) rs115631125
NM_001271208.2(NEB):c.19315-10T>C rs201473873
NM_001271208.2(NEB):c.19455G>A (p.Lys6485=) rs182847302
NM_001271208.2(NEB):c.19550G>A (p.Arg6517His) rs149596493
NM_001271208.2(NEB):c.195G>A (p.Pro65=) rs79524813
NM_001271208.2(NEB):c.19626T>C (p.Asp6542=) rs190336010
NM_001271208.2(NEB):c.19674C>T (p.Tyr6558=) rs201515651
NM_001271208.2(NEB):c.19732-8C>T rs137934821
NM_001271208.2(NEB):c.19751T>G (p.Met6584Arg) rs190605644
NM_001271208.2(NEB):c.19899C>T (p.Thr6633=) rs370742146
NM_001271208.2(NEB):c.20032C>T (p.Arg6678Cys) rs200239095
NM_001271208.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330
NM_001271208.2(NEB):c.20835G>A (p.Pro6945=) rs186244044
NM_001271208.2(NEB):c.20896C>T (p.Arg6966Cys) rs115623365
NM_001271208.2(NEB):c.21028T>C (p.Leu7010=) rs750374820
NM_001271208.2(NEB):c.21044C>G (p.Ser7015Cys) rs62167164
NM_001271208.2(NEB):c.21270G>T (p.Pro7090=) rs368887173
NM_001271208.2(NEB):c.21396C>T (p.Thr7132=) rs759637718
NM_001271208.2(NEB):c.21630C>T (p.Ile7210=) rs369183371
NM_001271208.2(NEB):c.21790G>C (p.Asp7264His) rs201979610
NM_001271208.2(NEB):c.21856C>G (p.Gln7286Glu) rs373946758
NM_001271208.2(NEB):c.22110G>A (p.Thr7370=) rs201400523
NM_001271208.2(NEB):c.22213C>G (p.Pro7405Ala) rs200304547
NM_001271208.2(NEB):c.22215A>G (p.Pro7405=) rs539800267
NM_001271208.2(NEB):c.22695+2T>C rs200449517
NM_001271208.2(NEB):c.2283C>T (p.Ala761=) rs373946448
NM_001271208.2(NEB):c.22983C>A (p.Ala7661=) rs185574478
NM_001271208.2(NEB):c.23118C>T (p.Ser7706=) rs370873040
NM_001271208.2(NEB):c.23246G>A (p.Arg7749Gln) rs200963111
NM_001271208.2(NEB):c.23372T>C (p.Met7791Thr) rs201767727
NM_001271208.2(NEB):c.2343G>A (p.Lys781=) rs191610670
NM_001271208.2(NEB):c.23487G>A (p.Ser7829=) rs770713773
NM_001271208.2(NEB):c.23582A>G (p.Asn7861Ser) rs143602832
NM_001271208.2(NEB):c.23629C>T (p.Arg7877Cys) rs184516994
NM_001271208.2(NEB):c.23868G>C (p.Leu7956Phe) rs201028196
NM_001271208.2(NEB):c.23881C>T (p.Pro7961Ser) rs193224180
NM_001271208.2(NEB):c.24032C>T (p.Ser8011Leu) rs202137113
NM_001271208.2(NEB):c.24126+8G>A rs1361035933
NM_001271208.2(NEB):c.2415T>C (p.Asp805=) rs566989836
NM_001271208.2(NEB):c.24558G>A (p.Glu8186=) rs372540293
NM_001271208.2(NEB):c.24591+10G>A rs755064162
NM_001271208.2(NEB):c.24771del (p.Phe8257fs) rs794727136
NM_001271208.2(NEB):c.24862A>G (p.Ile8288Val) rs551649582
NM_001271208.2(NEB):c.24979-8C>T rs200902944
NM_001271208.2(NEB):c.25014T>C (p.Gly8338=) rs754365974
NM_001271208.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595
NM_001271208.2(NEB):c.25143A>G (p.Gln8381=) rs184319249
NM_001271208.2(NEB):c.25212A>G (p.Pro8404=) rs763433145
NM_001271208.2(NEB):c.25268G>A (p.Arg8423His) rs139333406
NM_001271208.2(NEB):c.25344A>G (p.Glu8448=) rs576696191
NM_001271208.2(NEB):c.25441C>T (p.Arg8481Ter) rs200731870
NM_001271208.2(NEB):c.25472C>T (p.Thr8491Met) rs78592085
NM_001271208.2(NEB):c.25473G>A (p.Thr8491=) rs200083849
NM_001271208.2(NEB):c.25669G>A (p.Val8557Ile) rs117861109
NM_001271208.2(NEB):c.2603T>C (p.Leu868Pro) rs143123053
NM_001271208.2(NEB):c.2739C>T (p.Ser913=) rs185674525
NM_001271208.2(NEB):c.2832C>T (p.Ser944=) rs114076205
NM_001271208.2(NEB):c.2892T>C (p.Phe964=) rs762595663
NM_001271208.2(NEB):c.293C>T (p.Pro98Leu) rs201473194
NM_001271208.2(NEB):c.3246G>A (p.Ala1082=) rs372664114
NM_001271208.2(NEB):c.3444G>A (p.Ala1148=) rs375569766
NM_001271208.2(NEB):c.3468C>T (p.Val1156=) rs373258662
NM_001271208.2(NEB):c.3568-10A>G rs774345653
NM_001271208.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621
NM_001271208.2(NEB):c.3623T>C (p.Ile1208Thr) rs201141958
NM_001271208.2(NEB):c.3636C>T (p.Asp1212=) rs144376972
NM_001271208.2(NEB):c.3759G>A (p.Thr1253=) rs763075598
NM_001271208.2(NEB):c.3826C>A (p.Pro1276Thr) rs34234609
NM_001271208.2(NEB):c.3879+8G>A rs376511134
NM_001271208.2(NEB):c.4149C>T (p.Thr1383=) rs148794372
NM_001271208.2(NEB):c.4198G>A (p.Ala1400Thr) rs113174390
NM_001271208.2(NEB):c.4221G>A (p.Gln1407=) rs6709752
NM_001271208.2(NEB):c.4272G>C (p.Thr1424=) rs35654397
NM_001271208.2(NEB):c.4431T>C (p.Asp1477=) rs140558263
NM_001271208.2(NEB):c.4507-3del rs767772701
NM_001271208.2(NEB):c.4548T>C (p.Tyr1516=) rs748479655
NM_001271208.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598
NM_001271208.2(NEB):c.469A>G (p.Ile157Val) rs188718613
NM_001271208.2(NEB):c.4834C>T (p.Arg1612Cys) rs200545007
NM_001271208.2(NEB):c.4938C>T (p.Asn1646=) rs765208384
NM_001271208.2(NEB):c.4945_4947del (p.Tyr1649del) rs770192528
NM_001271208.2(NEB):c.4980C>T (p.Pro1660=) rs142074817
NM_001271208.2(NEB):c.508-6G>A rs374227241
NM_001271208.2(NEB):c.5121A>G (p.Ala1707=) rs371962475
NM_001271208.2(NEB):c.5181C>T (p.Tyr1727=) rs35016946
NM_001271208.2(NEB):c.5411C>A (p.Ala1804Glu) rs78420579
NM_001271208.2(NEB):c.5452-4A>G rs376623225
NM_001271208.2(NEB):c.5555T>G (p.Met1852Arg) rs144180493
NM_001271208.2(NEB):c.5571A>G (p.Glu1857=) rs201539560
NM_001271208.2(NEB):c.5696C>T (p.Thr1899Ile) rs202234374
NM_001271208.2(NEB):c.5802C>T (p.Gly1934=) rs139963368
NM_001271208.2(NEB):c.5853C>A (p.Ala1951=) rs757546480
NM_001271208.2(NEB):c.585C>T (p.Ala195=) rs374538366
NM_001271208.2(NEB):c.5905T>C (p.Tyr1969His) rs34532796
NM_001271208.2(NEB):c.5968G>A (p.Glu1990Lys) rs146310692
NM_001271208.2(NEB):c.6020T>C (p.Met2007Thr) rs199862790
NM_001271208.2(NEB):c.6069G>A (p.Met2023Ile) rs184262608
NM_001271208.2(NEB):c.6159G>A (p.Lys2053=) rs140186806
NM_001271208.2(NEB):c.6369G>A (p.Thr2123=) rs540542570
NM_001271208.2(NEB):c.6807+10T>C rs375723456
NM_001271208.2(NEB):c.6817A>G (p.Lys2273Glu) rs199700878
NM_001271208.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976
NM_001271208.2(NEB):c.718-6C>T rs371791129
NM_001271208.2(NEB):c.7185C>T (p.Asn2395=) rs775336786
NM_001271208.2(NEB):c.7209T>A (p.Val2403=) rs778083630
NM_001271208.2(NEB):c.7342C>T (p.Arg2448Cys) rs576076237
NM_001271208.2(NEB):c.7374C>T (p.Ser2458=) rs1318587515
NM_001271208.2(NEB):c.7514C>A (p.Ala2505Glu) rs35292878
NM_001271208.2(NEB):c.7623C>T (p.Ala2541=) rs371570995
NM_001271208.2(NEB):c.7677C>T (p.Leu2559=) rs371565168
NM_001271208.2(NEB):c.780A>G (p.Pro260=) rs80255720
NM_001271208.2(NEB):c.7860C>T (p.Ser2620=) rs753267809
NM_001271208.2(NEB):c.7914C>T (p.Ser2638=) rs373353657
NM_001271208.2(NEB):c.8019C>T (p.Leu2673=) rs755883171
NM_001271208.2(NEB):c.8063A>G (p.His2688Arg) rs201119402
NM_001271208.2(NEB):c.8202C>T (p.Val2734=) rs144595998
NM_001271208.2(NEB):c.8319G>T (p.Arg2773=) rs746644593
NM_001271208.2(NEB):c.8490G>A (p.Arg2830=) rs368217121
NM_001271208.2(NEB):c.8553G>A (p.Gly2851=) rs200624735
NM_001271208.2(NEB):c.8719G>A (p.Gly2907Ser) rs201707021
NM_001271208.2(NEB):c.9046C>T (p.Arg3016Ter) rs1057517977
NM_001271208.2(NEB):c.9071C>T (p.Ala3024Val) rs143933602
NM_001271208.2(NEB):c.914A>G (p.Asp305Gly) rs36105240
NM_001271208.2(NEB):c.9181A>T (p.Met3061Leu) rs143473183
NM_001271208.2(NEB):c.9465C>G (p.Pro3155=) rs1021985219
NM_001271208.2(NEB):c.9468T>C (p.Ile3156=) rs751747575
NM_001271208.2(NEB):c.9540G>A (p.Pro3180=) rs373833313
NM_001271208.2(NEB):c.9619-2A>G rs375145370
NM_001271208.2(NEB):c.9619-9C>T rs778009768
NM_001271208.2(NEB):c.984C>T (p.Thr328=) rs199969138
NM_001271208.2(NEB):c.9865G>A (p.Gly3289Ser) rs75639119
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674
NM_001287174.2(ABCC8):c.1630+10C>T rs188075767
NM_001287174.2(ABCC8):c.2117-3C>T rs1799854
NM_001287174.2(ABCC8):c.3332+6C>T rs113873225
NM_001287174.2(ABCC8):c.3561-7G>A rs900191703
NM_001287174.2(ABCC8):c.4123-19C>T rs1800853
NM_001330368.2(C11orf65):c.641-22943del rs1057517025
NM_001351834.2(ATM):c.5290del (p.Leu1764fs) rs587779846
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met) rs142524025
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln) rs146030669
NM_001352514.2(HLCS):c.1620+7del rs140568778
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=) rs759178651
NM_001352514.2(HLCS):c.1960+5G>A rs753887925
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met) rs119103231
NM_001352514.2(HLCS):c.2340C>T (p.Ala780=) rs760265551
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln) rs147474255
NM_001352514.2(HLCS):c.609C>T (p.Asp203=) rs370118884
NM_001352514.2(HLCS):c.951C>T (p.Ser317=) rs185480832
NM_001360.2(DHCR7):c.1011C>T (p.Ala337=) rs369382960
NM_001360.2(DHCR7):c.1368C>T (p.Gly456=) rs144562471
NM_001360.2(DHCR7):c.1409T>A (p.Leu470Gln) rs1331331095
NM_001360.2(DHCR7):c.399C>T (p.Ala133=) rs147424205
NM_001360.2(DHCR7):c.440G>A (p.Gly147Asp) rs777425801
NM_001360.2(DHCR7):c.655T>G (p.Tyr219Asp) rs779896782
NM_001360.2(DHCR7):c.729C>T (p.Pro243=) rs145284180
NM_001360.2(DHCR7):c.840C>T (p.Tyr280=) rs148468879
NM_001360.2(DHCR7):c.855C>T (p.Phe285=) rs781026169
NM_001360.2(DHCR7):c.902A>G (p.His301Arg) rs1565586067
NM_001360.2(DHCR7):c.906C>T (p.Phe302=) rs80338858
NM_001360.2(DHCR7):c.927C>A (p.Gly309=) rs149974099
NM_001360.2(DHCR7):c.987C>T (p.Pro329=) rs145901607
NM_001360.2(DHCR7):c.99-4G>A rs140748737
NM_001360.3(DHCR7):c.-195G>T rs141057811
NM_001360.3(DHCR7):c.225C>T (p.Ile75=) rs755182484
NM_001360.3(DHCR7):c.735C>T (p.Ile245=) rs12800
NM_001360.3(DHCR7):c.765C>T (p.Phe255=) rs200132007
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001
NM_001365088.1(SLC12A6):c.2106T>C (p.Tyr702=) rs145775351
NM_001365088.1(SLC12A6):c.3042+8A>G rs186141509
NM_001365088.1(SLC12A6):c.408T>C (p.Phe136=) rs145186782
NM_001369.2(DNAH5):c.10044C>T (p.Pro3348=) rs369902800
NM_001369.2(DNAH5):c.10066T>C (p.Leu3356=) rs138441172
NM_001369.2(DNAH5):c.10323G>A (p.Met3441Ile) rs149133845
NM_001369.2(DNAH5):c.10347C>T (p.Ala3449=) rs150773884
NM_001369.2(DNAH5):c.11130T>C (p.Arg3710=) rs765391783
NM_001369.2(DNAH5):c.11376C>T (p.Ala3792=) rs755149967
NM_001369.2(DNAH5):c.11974G>C (p.Asp3992His) rs143251480
NM_001369.2(DNAH5):c.1198G>A (p.Val400Met) rs144575803
NM_001369.2(DNAH5):c.12033+7A>C rs77541151
NM_001369.2(DNAH5):c.12105G>A (p.Thr4035=) rs199735129
NM_001369.2(DNAH5):c.12558C>T (p.Tyr4186=) rs748817131
NM_001369.2(DNAH5):c.1290A>G (p.Glu430=) rs990691780
NM_001369.2(DNAH5):c.13005C>T (p.Thr4335=) rs755271975
NM_001369.2(DNAH5):c.13155A>T (p.Pro4385=) rs202103048
NM_001369.2(DNAH5):c.1329G>A (p.Gln443=) rs141621142
NM_001369.2(DNAH5):c.13458dup (p.Asn4487Ter) rs775696136
NM_001369.2(DNAH5):c.13569C>A (p.Asp4523Glu) rs151080414
NM_001369.2(DNAH5):c.1362A>G (p.Lys454=) rs371157628
NM_001369.2(DNAH5):c.1884G>A (p.Leu628=) rs534702284
NM_001369.2(DNAH5):c.2259+8A>G rs202137813
NM_001369.2(DNAH5):c.2578-9_2578-7del rs71600031
NM_001369.2(DNAH5):c.2891A>T (p.His964Leu) rs199698421
NM_001369.2(DNAH5):c.3514C>A (p.Gln1172Lys) rs141168110
NM_001369.2(DNAH5):c.360T>C (p.Asp120=) rs368412855
NM_001369.2(DNAH5):c.3734G>A (p.Arg1245His) rs77939839
NM_001369.2(DNAH5):c.3775G>A (p.Ala1259Thr) rs112217391
NM_001369.2(DNAH5):c.3777G>A (p.Ala1259=) rs144893234
NM_001369.2(DNAH5):c.378A>G (p.Val126=) rs377275027
NM_001369.2(DNAH5):c.3835-3del rs35398031
NM_001369.2(DNAH5):c.39C>T (p.Ser13=) rs370788337
NM_001369.2(DNAH5):c.4054-4T>C rs200608915
NM_001369.2(DNAH5):c.4331A>G (p.Asn1444Ser) rs567013299
NM_001369.2(DNAH5):c.4338C>G (p.Leu1446=) rs377432140
NM_001369.2(DNAH5):c.4510G>C (p.Gly1504Arg) rs143567667
NM_001369.2(DNAH5):c.4525G>A (p.Val1509Met) rs140345677
NM_001369.2(DNAH5):c.4596+5A>C rs182677317
NM_001369.2(DNAH5):c.4689C>T (p.Gly1563=) rs375658702
NM_001369.2(DNAH5):c.4995C>T (p.Ile1665=) rs748438142
NM_001369.2(DNAH5):c.5281C>A (p.Arg1761=) rs148891849
NM_001369.2(DNAH5):c.5281C>G (p.Arg1761Gly) rs148891849
NM_001369.2(DNAH5):c.624C>T (p.Asn208=) rs139640247
NM_001369.2(DNAH5):c.6381C>T (p.Asn2127=) rs767344710
NM_001369.2(DNAH5):c.660+9G>A rs762915801
NM_001369.2(DNAH5):c.6747C>T (p.Phe2249=) rs568499996
NM_001369.2(DNAH5):c.7515G>A (p.Glu2505=) rs1032671138
NM_001369.2(DNAH5):c.7525C>T (p.Arg2509Cys) rs531393117
NM_001369.2(DNAH5):c.7752+3A>G rs200385399
NM_001369.2(DNAH5):c.7888-4A>G rs775268409
NM_001369.2(DNAH5):c.7998G>T (p.Glu2666Asp) rs148720124
NM_001369.2(DNAH5):c.8002G>A (p.Gly2668Arg) rs147236883
NM_001369.2(DNAH5):c.8190G>A (p.Thr2730=) rs752656841
NM_001369.2(DNAH5):c.8268A>C (p.Ser2756=) rs775185371
NM_001369.2(DNAH5):c.8731A>G (p.Asn2911Asp) rs142852982
NM_001369.2(DNAH5):c.8757G>C (p.Glu2919Asp) rs115776799
NM_001369.2(DNAH5):c.8821-7A>G rs776228125
NM_001369.2(DNAH5):c.8845C>G (p.Gln2949Glu) rs147688221
NM_001369.2(DNAH5):c.894C>G (p.Asn298Lys) rs116995413
NM_001369.2(DNAH5):c.9111T>C (p.Ser3037=) rs765029802
NM_001369.2(DNAH5):c.9203A>G (p.Glu3068Gly) rs141571121
NM_001369.2(DNAH5):c.9213C>T (p.His3071=) rs563907105
NM_001369.2(DNAH5):c.9244C>A (p.Leu3082Ile) rs147372600
NM_001369.2(DNAH5):c.946C>T (p.Leu316Phe) rs201706790
NM_001369.2(DNAH5):c.9549G>A (p.Gln3183=) rs147865593
NM_001369.2(DNAH5):c.9677C>T (p.Ala3226Val) rs192262838
NM_001369.2(DNAH5):c.9714C>T (p.Ala3238=) rs375561333
NM_001369.2(DNAH5):c.9751G>T (p.Ala3251Ser) rs139293893
NM_001369.2(DNAH5):c.9897+9A>G rs774932799
NM_001369.2(DNAH5):c.9941G>A (p.Arg3314His) rs143858741
NM_001369.3(DNAH5):c.12189G>A (p.Gly4063=)
NM_001369.3(DNAH5):c.2193C>T (p.Val731=)
NM_001369.3(DNAH5):c.660+10A>G
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile) rs397514405
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser) rs374141881
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser) rs138818907
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu) rs151071780
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490
NM_001370658.1(BTD):c.339G>A (p.Pro113=) rs181743799
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn) rs397514367
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu) rs750363004
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375
NM_001370658.1(BTD):c.585C>T (p.Leu195=) rs145388314
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176
NM_001378454.1(ALMS1):c.4049A>G (p.His1350Arg)
NM_001384474.1(LOXHD1):c.2816AGA[3] (p.Lys942del) rs142960762
NM_001399.5(EDA):c.396+10C>T
NM_001499.2(GLE1):c.1393T>A (p.Ser465Thr) rs141709685
NM_001673.5(ASNS):c.1364C>T (p.Ser455Phe) rs61733327
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln) rs769236847