ClinVar Miner

Variants from Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen with conflicting interpretations

Location: Netherlands — Primary collection method: clinical testing
Minimum review status of the submission from Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen: Collection method of the submission from Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

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

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
108 815 64 831 257 19 55 972

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
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen pathogenic likely pathogenic uncertain significance likely benign benign association drug response protective risk factor other
pathogenic 14 59 18 1 1 0 0 0 5 2
likely pathogenic 13 1 8 0 0 0 0 0 0 0
uncertain significance 3 3 0 11 3 0 0 0 0 1
likely benign 5 3 169 1 273 0 0 1 3 1
benign 9 6 76 486 48 1 3 1 0 3

Submitter to submitter summary #

Total submitters: 100
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
Illumina Clinical Services Laboratory,Illumina 0 558 0 274 84 0 0 358
Genetic Services Laboratory, University of Chicago 0 156 0 211 15 0 0 226
Invitae 0 363 0 172 26 2 7 207
GeneDx 0 608 0 154 21 0 4 179
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 478 0 92 27 4 2 125
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 350 0 66 25 0 4 95
Ambry Genetics 0 401 0 68 19 0 2 89
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 626 0 65 3 0 2 70
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 358 0 69 0 0 0 69
Color 0 232 0 56 9 0 1 66
PreventionGenetics 0 664 0 58 2 0 0 60
Integrated Genetics/Laboratory Corporation of America 0 293 0 40 16 0 0 56
Counsyl 0 130 0 50 4 0 0 54
Biesecker Lab/Human Development Section,National Institutes of Health 0 29 27 13 10 0 1 51
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 53 0 38 7 0 3 48
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 169 0 37 6 0 2 45
CeGaT Praxis fuer Humangenetik Tuebingen 0 14 0 13 25 0 1 39
Athena Diagnostics Inc 0 143 0 28 9 0 0 37
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 17 26 7 0 0 0 33
OMIM 0 64 0 4 12 13 3 32
True Health Diagnostics 0 30 0 30 2 0 0 32
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 164 0 28 3 0 0 31
Breast Cancer Information Core (BIC) (BRCA2) 0 77 0 0 25 0 5 30
GeneReviews 0 37 14 2 2 1 6 25
CSER_CC_NCGL; University of Washington Medical Center 0 19 0 15 9 0 1 25
Fulgent Genetics 0 58 0 19 3 0 0 22
Breast Cancer Information Core (BIC) (BRCA1) 0 66 0 0 18 0 3 21
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 38 0 13 4 0 2 19
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 12 0 19 0 0 0 19
Department of Pathology and Laboratory Medicine,Sinai Health System 0 132 0 14 5 0 0 19
Quest Diagnostics Nichols Institute San Juan Capistrano 0 92 0 11 6 0 1 18
Pathway Genomics 0 27 0 15 1 0 0 16
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 122 0 16 0 0 0 16
Robarts Research Institute,Western University 0 4 0 12 0 0 3 15
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 23 0 8 6 0 0 14
LDLR-LOVD, British Heart Foundation 0 12 0 9 1 0 3 13
Sharing Clinical Reports Project (SCRP) 0 136 0 7 4 0 1 12
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 7 1 0 1 9
Vantari Genetics 0 10 0 7 1 0 0 8
Mendelics 0 28 0 6 1 0 0 7
Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research 0 25 0 2 4 0 1 7
Blueprint Genetics, 0 13 0 5 0 0 2 7
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 17 0 3 3 0 0 6
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 26 0 5 0 0 1 6
Michigan Medical Genetics Laboratories,University of Michigan 0 84 0 5 0 0 0 5
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 14 0 4 1 0 0 5
Department of Medical Genetics,University Hospital of North Norway 0 0 0 4 1 0 0 5
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 21 0 0 5 0 0 5
Fundacion Hipercolesterolemia Familiar 0 12 0 2 3 0 0 5
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 10 0 0 4 0 0 4
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 1 0 3 1 0 0 4
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 5 0 3 0 0 1 4
SIB Swiss Institute of Bioinformatics 0 11 0 3 1 0 0 4
Iberoamerican FH Network 0 12 0 1 3 0 0 4
Center for Human Genetics, Inc 0 4 0 0 3 0 0 3
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 2 0 0 1 3
PharmGKB 0 0 0 0 0 3 0 3
RettBASE 0 0 0 3 0 0 0 3
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 184 0 3 0 0 0 3
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 1 2 0 0 0 3
Institute for Integrative and Experimental Genomics,University of Luebeck 0 1 0 3 0 0 0 3
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 7 0 0 2 0 1 3
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 14 0 3 0 0 0 3
U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 0 9 0 2 0 0 1 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 5 0 3 0 0 0 3
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 0 13 0 0 3 0 0 3
Department of Pathology and Molecular Medicine,Queen's University 0 26 0 2 1 0 0 3
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 0 0 0 0 0 0 3 3
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 4 0 0 1 0 1 2
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital 0 8 0 2 0 0 0 2
Division of Human Genetics,Children's Hospital of Philadelphia 0 7 0 0 1 0 1 2
GeneKor MSA 0 58 0 2 0 0 0 2
Center for Human Genetics,University of Leuven 0 6 0 0 0 0 2 2
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 0 0 2 0 0 2
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 56 0 2 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 1 0 0 1 2
Baylor Miraca Genetics Laboratories, 0 66 0 1 0 0 0 1
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 1 0 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 0 0 0 1 1
Center for Medical Genetics Ghent,University of Ghent 0 3 0 1 0 0 0 1
National Institute of Mental Health and Neurosciences 0 0 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology 0 7 0 1 0 0 0 1
Neurogenetics of motion laboratory,Montreal Neurological Institute 0 1 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 2 0 0 1 0 0 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 4 0 1 0 0 0 1
UCL Genetics Institute,UCL 0 0 0 0 0 0 1 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 0 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 0 1 0 0 1
GenePathDx,Causeway Health Care Private Ltd 0 0 0 1 0 0 0 1
Daryl Scott Lab,Baylor College of Medicine 0 0 0 0 0 1 0 1
Undiagnosed Diseases Network,NIH 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 2 0 1 0 0 0 1
Phosphorus, Inc. 0 10 0 1 0 0 0 1
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 0 1 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 0 0 0 1 1
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 86 0 0 0 0 1 1
Genetics Laboratory,Facudade de Medicina de Sao Jose do Rio Preto 0 0 0 0 1 0 0 1
ClinGen PAH Variant Curation Expert Panel, 0 6 0 1 0 0 0 1
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 0 0 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 972
Download table as spreadsheet
HGVS dbSNP
NM_000020.2(ACVRL1):c.207C>T (p.Cys69=) rs56080682
NM_000027.3(AGA):c.281+13T>G rs34241758
NM_000027.3(AGA):c.336delT (p.Ile112Metfs) rs386833422
NM_000033.3(ABCD1):c.1748T>A (p.Val583Glu) rs79383557
NM_000045.3(ARG1):c.270C>T (p.Asn90=) rs34504481
NM_000051.3(ATM):c.1066-6T>G rs201686625
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.4324T>C (p.Tyr1442His) rs201666889
NM_000051.3(ATM):c.4578C>T (p.Pro1526=) rs1800889
NM_000051.3(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.609C>T (p.Asp203=) rs144709948
NM_000051.3(ATM):c.7475T>G (p.Leu2492Arg) rs56399857
NM_000051.3(ATM):c.7919C>T (p.Thr2640Ile) rs4988125
NM_000053.3(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243
NM_000053.3(ATP7B):c.1278C>T (p.Val426=) rs143556945
NM_000053.3(ATP7B):c.1366G>C (p.Val456Leu) rs1801244
NM_000053.3(ATP7B):c.2355+13T>G rs139211339
NM_000053.3(ATP7B):c.2544C>T (p.Gly848=) rs200996053
NM_000053.3(ATP7B):c.2855G>A (p.Arg952Lys) rs732774
NM_000053.3(ATP7B):c.3207C>A (p.His1069Gln) rs76151636
NM_000053.3(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249
NM_000053.3(ATP7B):c.3557-6C>T rs140708492
NM_000053.3(ATP7B):c.3620A>G (p.His1207Arg) rs7334118
NM_000053.3(ATP7B):c.4311G>A (p.Lys1437=) rs73202048
NM_000057.3(BLM):c.2603C>T (p.Pro868Leu) rs2227935
NM_000059.3(BRCA2):c.-11C>T rs76874770
NM_000059.3(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.3(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.3(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475
NM_000059.3(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046
NM_000059.3(BRCA2):c.1296_1297delGA (p.Asn433Glnfs) rs80359276
NM_000059.3(BRCA2):c.1342C>T (p.Arg448Cys) rs80358422
NM_000059.3(BRCA2):c.1395A>C (p.Val465=) rs11571641
NM_000059.3(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708
NM_000059.3(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.3(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710
NM_000059.3(BRCA2):c.1804G>A (p.Gly602Arg) rs80358466
NM_000059.3(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.3(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716
NM_000059.3(BRCA2):c.2883G>A (p.Gln961=) rs11571655
NM_000059.3(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944
NM_000059.3(BRCA2):c.3516G>A (p.Ser1172=) rs1799952
NM_000059.3(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.3(BRCA2):c.426-12_426-8del5 rs276174844
NM_000059.3(BRCA2):c.5117A>C (p.Asn1706Thr) rs730881536
NM_000059.3(BRCA2):c.517-19C>T rs11571623
NM_000059.3(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.3(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755
NM_000059.3(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097
NM_000059.3(BRCA2):c.5688A>G (p.Ala1896=) rs768907899
NM_000059.3(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.3(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375
NM_000059.3(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815
NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs) rs80359550
NM_000059.3(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.3(BRCA2):c.6323G>A (p.Arg2108His) rs35029074
NM_000059.3(BRCA2):c.6399_6401delAAA (p.Asn2135del) rs80359581
NM_000059.3(BRCA2):c.658_659delGT (p.Val220Ilefs) rs80359604
NM_000059.3(BRCA2):c.6748A>G (p.Thr2250Ala) rs80358899
NM_000059.3(BRCA2):c.7010C>T (p.Thr2337Ile) rs80358927
NM_000059.3(BRCA2):c.7232A>C (p.Lys2411Thr) rs80358950
NM_000059.3(BRCA2):c.7397C>T (p.Ala2466Val) rs169547
NM_000059.3(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744
NM_000059.3(BRCA2):c.771_775delTCAAA (p.Asn257Lysfs) rs80359671
NM_000059.3(BRCA2):c.7940T>C (p.Leu2647Pro) rs80359021
NM_000059.3(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.3(BRCA2):c.8067T>A (p.Cys2689Ter) rs80359046
NM_000059.3(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.3(BRCA2):c.8167G>C (p.Asp2723His) rs41293511
NM_000059.3(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749
NM_000059.3(BRCA2):c.831T>G (p.Asn277Lys) rs28897705
NM_000059.3(BRCA2):c.8525G>A (p.Arg2842His) rs80359105
NM_000059.3(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.3(BRCA2):c.8632+1G>T rs397507997
NM_000059.3(BRCA2):c.865A>C (p.Asn289His) rs766173
NM_000059.3(BRCA2):c.8754+1G>T rs397508006
NM_000059.3(BRCA2):c.8754+3G>C rs397508007
NM_000059.3(BRCA2):c.8754+5G>A rs81002813
NM_000059.3(BRCA2):c.8756G>T (p.Gly2919Val) rs80359131
NM_000059.3(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047
NM_000059.3(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.3(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.3(BRCA2):c.9104A>C (p.Tyr3035Ser) rs80359165
NM_000059.3(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035
NM_000059.3(BRCA2):c.9253dupA (p.Thr3085Asnfs) rs80359752
NM_000059.3(BRCA2):c.9257-16T>C rs11571818
NM_000059.3(BRCA2):c.9649-20C>T rs56177715
NM_000059.3(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000078.2(CETP):c.1264G>A (p.Val422Ile) rs5882
NM_000096.3(CP):c.1430C>T (p.Pro477Leu) rs35331711
NM_000096.3(CP):c.1652C>T (p.Thr551Ile) rs61733458
NM_000096.3(CP):c.2286-15G>T rs34861155
NM_000096.3(CP):c.2684G>C (p.Gly895Ala) rs139633388
NM_000096.3(CP):c.2793A>G (p.Leu931=) rs34987997
NM_000108.4(DLD):c.439-7T>C rs10263341
NM_000110.3(DPYD):c.1601G>A (p.Ser534Asn) rs1801158
NM_000110.3(DPYD):c.1627A>G (p.Ile543Val) rs1801159
NM_000113.2(TOR1A):c.646G>C (p.Asp216His) rs1801968
NM_000116.4(TAZ):c.542-20C>T rs373841640
NM_000116.4(TAZ):c.873G>A (p.Gly291=) rs35902788
NM_000117.2(EMD):c.400-9C>T rs782061626
NM_000118.3(ENG):c.120C>T (p.Gly40=) rs41522944
NM_000118.3(ENG):c.14C>T (p.Thr5Met) rs35400405
NM_000118.3(ENG):c.1686+6T>G rs369766351
NM_000123.3(ERCC5):c.138T>C (p.His46=) rs1047768
NM_000123.3(ERCC5):c.3310G>C (p.Asp1104His) rs17655
NM_000137.2(FAH):c.1259G>A (p.Ter420=) rs61747586
NM_000137.2(FAH):c.267G>C (p.Leu89=) rs33929922
NM_000144.4(FXN):c.54A>G (p.Pro18=) rs2481598
NM_000152.4(GAA):c.1327-18A>G rs2278619
NM_000152.4(GAA):c.1581G>A (p.Arg527=) rs1042396
NM_000152.4(GAA):c.2133A>G (p.Thr711=) rs1800310
NM_000152.4(GAA):c.642C>T (p.Ser214=) rs1800301
NM_000152.4(GAA):c.668G>A (p.Arg223His) rs1042395
NM_000153.3(GALC):c.1700A>C (p.Tyr567Ser) rs752537626
NM_000153.3(GALC):c.330C>T (p.Asp110=) rs11552556
NM_000153.3(GALC):c.61G>C (p.Ala21Pro) rs111887056
NM_000155.3(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000159.3(GCDH):c.*165A>G rs8012
NM_000159.3(GCDH):c.1011A>G (p.Ala337=) rs2229460
NM_000159.3(GCDH):c.1143C>T (p.Ile381=) rs142553521
NM_000169.2(GLA):c.1153A>G (p.Thr385Ala) rs397515869
NM_000169.2(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000169.2(GLA):c.945C>T (p.Asp315=) rs151208856
NM_000170.2(GLDC):c.1156-7C>G rs150095531
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000170.2(GLDC):c.1927-9A>G rs41281773
NM_000171.3(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260
NM_000179.2(MSH6):c.116G>A (p.Gly39Glu) rs1042821
NM_000179.2(MSH6):c.1449G>T (p.Val483=) rs35590297
NM_000179.2(MSH6):c.1508C>G (p.Ser503Cys) rs63750897
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
NM_000179.2(MSH6):c.276A>G (p.Pro92=) rs1800932
NM_000179.2(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.2(MSH6):c.3438+14A>T rs2020911
NM_000179.2(MSH6):c.3439-16C>T rs192614006
NM_000179.2(MSH6):c.3557-4dupT rs267608102
NM_000179.2(MSH6):c.4002-10delT rs59056100
NM_000179.2(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000179.2(MSH6):c.457+13A>G rs1800933
NM_000179.2(MSH6):c.540T>C (p.Asp180=) rs1800935
NM_000179.2(MSH6):c.642C>T (p.Tyr214=) rs1800937
NM_000179.2(MSH6):c.73G>T (p.Ala25Ser) rs267608026
NM_000181.3(GUSB):c.454G>A (p.Asp152Asn) rs149606212
NM_000190.4(HMBS):c.606G>T (p.Val202=) rs1131488
NM_000192.3(TBX5):c.786C>T (p.Thr262=) rs375955080
NM_000199.3(SGSH):c.1081G>A (p.Val361Ile) rs9894254
NM_000199.3(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000199.4(SGSH):c.364G>A (p.Gly122Arg) rs761607612
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=) rs4766309
NM_000249.3(MLH1):c.1039-8T>A rs193922367
NM_000249.3(MLH1):c.1558+14G>A rs41562513
NM_000249.3(MLH1):c.1668-19A>G rs9876116
NM_000249.3(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.3(MLH1):c.1959G>T (p.Leu653=) rs1800146
NM_000249.3(MLH1):c.2146G>A (p.Val716Met) rs35831931
NM_000249.3(MLH1):c.655A>G (p.Ile219Val) rs1799977
NM_000249.3(MLH1):c.790+10A>G rs182733777
NM_000251.2(MSH2):c.1077-10T>C rs17224360
NM_000251.2(MSH2):c.1511-9A>T rs12998837
NM_000251.2(MSH2):c.1661+12G>A rs3732183
NM_000251.2(MSH2):c.2006-6T>C rs2303428
NM_000251.2(MSH2):c.211+9C>G rs2303426
NM_000251.2(MSH2):c.339G>A (p.Lys113=) rs35898375
NM_000251.2(MSH2):c.984C>T (p.Ala328=) rs4987189
NM_000252.2(MTM1):c.1260+3G>A rs222410
NM_000253.3(MTTP):c.-214G>A rs569667113
NM_000253.3(MTTP):c.1151A>C (p.Asp384Ala) rs17029215
NM_000253.3(MTTP):c.136C>G (p.Arg46Gly) rs141736123
NM_000253.3(MTTP):c.2513+13G>A rs148073215
NM_000253.3(MTTP):c.2657C>T (p.Pro886Leu) rs144600401
NM_000253.3(MTTP):c.502G>A (p.Val168Ile) rs61750974
NM_000255.3(MMUT):c.1595G>A (p.Arg532His) rs1141321
NM_000255.3(MMUT):c.1629C>T (p.Ser543=) rs150642856
NM_000256.3(MYBPC3):c.1351+1G>A rs727503204
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534
NM_000256.3(MYBPC3):c.1467C>T (p.Asp489=) rs35690719
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422
NM_000256.3(MYBPC3):c.1790+7G>A rs374852831
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728
NM_000256.3(MYBPC3):c.2547C>T (p.Val849=) rs3729953
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470
NM_000256.3(MYBPC3):c.2737+12C>T rs3729936
NM_000256.3(MYBPC3):c.2864_2865delCT (p.Pro955Argfs) rs397515990
NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=) rs1052373
NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp) rs727503171
NM_000256.3(MYBPC3):c.3776delA (p.Gln1259Argfs) rs727503166
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050
NM_000256.3(MYBPC3):c.472G>A (p.Val158Met) rs3729986
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=) rs3218719
NM_000256.3(MYBPC3):c.506-12delC rs11570050
NM_000256.3(MYBPC3):c.506-17C>T rs561595897
NM_000256.3(MYBPC3):c.531C>T (p.Arg177=) rs368035400
NM_000256.3(MYBPC3):c.537C>T (p.Ala179=) rs11570051
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074
NM_000256.3(MYBPC3):c.786C>T (p.Thr262=) rs11570058
NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter) rs193922386
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776
NM_000258.2(MYL3):c.130-14G>T rs192329378
NM_000258.2(MYL3):c.307+15C>T rs184025552
NM_000263.3(NAGLU):c.1515C>T (p.Ser505=) rs112751577
NM_000263.3(NAGLU):c.2021G>A (p.Arg674His) rs104894590
NM_000263.3(NAGLU):c.2209C>A (p.Arg737Ser) rs86312
NM_000263.3(NAGLU):c.889C>T (p.Arg297Ter) rs104894592
NM_000270.3(PNP):c.171C>T (p.Pro57=) rs1130650
NM_000270.3(PNP):c.60C>T (p.His20=) rs1049562
NM_000271.4(NPC1):c.1532C>T (p.Thr511Met) rs13381670
NM_000271.4(NPC1):c.1926G>C (p.Met642Ile) rs1788799
NM_000271.4(NPC1):c.1947+10G>C rs71534236
NM_000271.4(NPC1):c.1947+16dupG rs3837910
NM_000271.4(NPC1):c.2073G>A (p.Pro691=) rs113013085
NM_000271.4(NPC1):c.2572A>G (p.Ile858Val) rs1805082
NM_000271.4(NPC1):c.2793C>T (p.Asn931=) rs1140458
NM_000271.4(NPC1):c.2795+19T>C rs200103695
NM_000271.4(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.4(NPC1):c.3198C>T (p.Thr1066=) rs145145840
NM_000271.4(NPC1):c.3450C>T (p.Asn1150=) rs34715591
NM_000271.4(NPC1):c.3477+19T>C rs375942184
NM_000271.4(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744
NM_000271.4(NPC1):c.644A>G (p.His215Arg) rs1805081
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000282.3(PCCA):c.1423A>G (p.Ile475Val) rs35719359
NM_000303.2(PMM2):c.324G>A (p.Ala108=) rs62031146
NM_000303.2(PMM2):c.357C>A (p.Phe119Leu) rs80338701
NM_000303.2(PMM2):c.368G>A (p.Arg123Gln) rs141498002
NM_000303.2(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.2(PMM2):c.563A>G (p.Asp188Gly) rs80338704
NM_000303.2(PMM2):c.590A>C (p.Glu197Ala) rs34258285
NM_000310.3(PPT1):c.363-4G>A rs117284255
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000310.3(PPT1):c.904A>G (p.Ile302Val) rs146902902
NM_000320.2(QDPR):c.96C>T (p.Ala32=) rs2518608
NM_000370.3(TTPA):c.487delT (p.Trp163Glyfs) rs397515378
NM_000379.3(XDH):c.3276+12A>G rs1366813
NM_000382.2(ALDH3A2):c.1270C>T (p.Pro424Ser) rs61737992
NM_000391.3(TPP1):c.1542A>T (p.Gly514=) rs1128396
NM_000391.3(TPP1):c.509-1G>C rs56144125
NM_000391.3(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000426.3(LAMA2):c.3412G>A (p.Val1138Met) rs2306942
NM_000426.3(LAMA2):c.7906A>G (p.Thr2636Ala) rs2244008
NM_000426.3(LAMA2):c.8755C>T (p.Pro2919Ser) rs143026295
NM_000432.3(MYL2):c.132T>C (p.Ile44=) rs2301610
NM_000432.3(MYL2):c.170-19T>C rs115522476
NM_000432.3(MYL2):c.353+16G>A rs572363699
NM_000432.3(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_000453.2(SLC5A5):c.1652-9G>A rs4808708
NM_000456.2(SUOX):c.1281G>C (p.Ser427=) rs773115
NM_000481.3(AMT):c.631G>A (p.Glu211Lys) rs116192290
NM_000512.4(GALNS):c.1156C>T (p.Arg386Cys) rs118204437
NM_000520.5(HEXA):c.1306A>G (p.Ile436Val) rs1800431
NM_000520.5(HEXA):c.1518A>G (p.Glu506=) rs4777502
NM_000520.5(HEXA):c.759G>A (p.Val253=) rs117513345
NM_000527.4(LDLR):c.1061-8T>C rs72658861
NM_000527.4(LDLR):c.1291G>A (p.Ala431Thr) rs28942079
NM_000527.4(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.4(LDLR):c.1329G>T (p.Trp443Cys) rs879254867
NM_000527.4(LDLR):c.1359-1G>A rs139617694
NM_000527.4(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.4(LDLR):c.1549T>C (p.Ser517Pro) rs879254936
NM_000527.4(LDLR):c.1617C>T (p.Pro539=) rs5929
NM_000527.4(LDLR):c.1646G>A (p.Gly549Asp) rs28941776
NM_000527.4(LDLR):c.1690A>C (p.Asn564His) rs397509365
NM_000527.4(LDLR):c.1706-10G>A rs17248882
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_000527.4(LDLR):c.191-2A>G rs544203837
NM_000527.4(LDLR):c.2101G>A (p.Gly701Ser) rs368838866
NM_000527.4(LDLR):c.2113G>C (p.Ala705Pro) rs193922570
NM_000527.4(LDLR):c.2140+5G>A rs72658867
NM_000527.4(LDLR):c.2177C>T (p.Thr726Ile) rs45508991
NM_000527.4(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.4(LDLR):c.2390-16G>A rs183496025
NM_000527.4(LDLR):c.28T>C (p.Trp10Arg) rs879254386
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000527.4(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000527.4(LDLR):c.81C>T (p.Cys27=) rs2228671
NM_000527.4(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_000528.3(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330
NM_000528.3(MAN2B1):c.832C>G (p.Leu278Val) rs1054486
NM_000528.3(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_000535.5(PMS2):c.*17G>C rs556089649
NM_000535.6(PMS2):c.1569C>G (p.Ser523=) rs141458772
NM_000535.6(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.6(PMS2):c.1866G>A (p.Met622Ile) rs1805324
NM_000535.6(PMS2):c.2007-4G>A rs1805326
NM_000535.6(PMS2):c.23+10G>C rs192027828
NM_000535.6(PMS2):c.2324A>G (p.Asn775Ser) rs17420802
NM_000535.6(PMS2):c.288C>T (p.Ala96=) rs12532895
NM_000535.6(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.6(PMS2):c.59G>A (p.Arg20Gln) rs10254120
NM_000535.6(PMS2):c.705+17A>G rs62456182
NM_000535.6(PMS2):c.706-4delT rs60794673
NM_000535.6(PMS2):c.780C>G (p.Ser260=) rs1805319
NM_000538.3(RFXAP):c.24G>A (p.Glu8=) rs540467033
NM_000546.5(TP53):c.108G>A (p.Pro36=) rs1800370
NM_000546.5(TP53):c.215C>G (p.Pro72Arg) rs1042522
NM_000546.5(TP53):c.639A>G (p.Arg213=) rs1800372
NM_000546.5(TP53):c.993+12T>C rs1800899
NM_000547.5(TPO):c.1117G>T (p.Ala373Ser) rs2280132
NM_000547.5(TPO):c.12C>G (p.Leu4=) rs9678281
NM_000547.5(TPO):c.1998C>T (p.Asp666=) rs1126797
NM_000547.5(TPO):c.2145C>T (p.Pro715=) rs732608
NM_000547.5(TPO):c.2173A>C (p.Thr725Pro) rs732609
NM_000547.5(TPO):c.769G>T (p.Ala257Ser) rs4927611
NM_000642.2(AGL):c.1155G>T (p.Lys385Asn) rs28730701
NM_000686.4(AGTR2):c.62G>T (p.Gly21Val) rs121917810
NM_000709.3(BCKDHA):c.1221A>G (p.Leu407=) rs4674
NM_000709.3(BCKDHA):c.972C>T (p.Phe324=) rs284652
NM_000733.3(CD3E):c.211G>C (p.Asp71His) rs148647954
NM_000742.3(CHRNA2):c.140C>T (p.Thr47Met) rs74772771
NM_000744.6(CHRNA4):c.189C>T (p.Leu63=) rs2273506
NM_000748.2(CHRNB2):c.1233G>A (p.Ala411=) rs55857552
NM_000767.5(CYP2B6):c.785A>G (p.Lys262Arg) rs2279343
NM_000784.3(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.3(CYP27A1):c.276C>T (p.Tyr92=) rs141519183
NM_000790.3(DDC):c.96C>T (p.Asp32=) rs11575290
NM_000815.4(GABRD):c.1107C>A (p.Gly369=) rs148300882
NM_000833.4(GRIN2A):c.2883C>T (p.Asn961=) rs77705198
NM_000833.4(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
NM_000833.4(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288
NM_000834.4(GRIN2B):c.1665C>T (p.Ser555=) rs1805482
NM_000834.4(GRIN2B):c.1851C>T (p.Ser617=) rs147373250
NM_000834.4(GRIN2B):c.228C>T (p.Thr76=) rs77299791
NM_000834.4(GRIN2B):c.3498C>T (p.Ser1166=) rs45600931
NM_001005242.2(PKP2):c.184C>A (p.Gln62Lys) rs199601548
NM_001030311.2(CERKL):c.239-12T>A rs6433923
NM_001031726.3(C19orf12):c.102G>A (p.Ala34=) rs201118405
NM_001039141.2(TRIOBP):c.1478G>A (p.Ser493Asn) rs4821700
NM_001042472.2(ABHD12):c.837C>T (p.Arg279=) rs6107027
NM_001042537.1(SLC9A6):c.25G>T (p.Ala9Ser) rs201523857
NM_001044.4(SLC6A3):c.162C>T (p.Pro54=) rs6351
NM_001044.4(SLC6A3):c.546C>T (p.Asn182=) rs28364996
NM_001077399.2(PNKD):c.396G>A (p.Pro132=) rs148049021
NM_001077653.2(TBX20):c.1017A>C (p.Thr339=) rs112054378
NM_001080.3(ALDH5A1):c.678G>C (p.Val226=) rs113591366
NM_001083961.1(WDR62):c.142C>T (p.Leu48Phe) rs62109744
NM_001083961.1(WDR62):c.2549T>C (p.Leu850Ser) rs2285745
NM_001083961.1(WDR62):c.2991C>T (p.Ala997=) rs77898819
NM_001083961.1(WDR62):c.700-18C>T rs10423651
NM_001103.3(ACTN2):c.-22C>T rs138279482
NM_001103.3(ACTN2):c.1341C>T (p.Phe447=) rs34785693
NM_001103.3(ACTN2):c.1371C>T (p.Arg457=) rs114008185
NM_001103.3(ACTN2):c.1383C>T (p.Ile461=) rs34827377
NM_001103.3(ACTN2):c.1426G>A (p.Ala476Thr) rs142943120
NM_001103.3(ACTN2):c.1452G>A (p.Gln484=) rs200529923
NM_001103.3(ACTN2):c.1657-16T>C rs148194175
NM_001103.3(ACTN2):c.1810A>G (p.Met604Val) rs35997569
NM_001103.3(ACTN2):c.1932C>A (p.Ala644=) rs144680712
NM_001103.3(ACTN2):c.1975-12C>T rs371352710
NM_001103.3(ACTN2):c.2568G>A (p.Pro856=) rs149554430
NM_001103.3(ACTN2):c.2601C>T (p.Pro867=) rs147245615
NM_001103.3(ACTN2):c.2610G>A (p.Ser870=) rs12063382
NM_001103.3(ACTN2):c.2649G>A (p.Ala883=) rs146426213
NM_001103.3(ACTN2):c.536+10C>T rs141219516
NM_001103.3(ACTN2):c.615+15C>T rs369293885
NM_001103.3(ACTN2):c.616-3C>T rs111464645
NM_001103.3(ACTN2):c.877-8C>G rs2288601
NM_001105206.2(LAMA4):c.196-12T>C rs78871662
NM_001105206.2(LAMA4):c.2569G>A (p.Ala857Thr) rs144123257
NM_001105206.2(LAMA4):c.264C>T (p.Ser88=) rs201152817
NM_001105206.2(LAMA4):c.5207-14G>C rs112265545
NM_001105209.2(LAMA4):c.339T>C (p.Leu113=) rs147118520
NM_001105243.1(PCDH19):c.2655C>T (p.Asn885=) rs193148631
NM_001122606.1(LAMP2):c.1093+2514G>A rs144140265
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580
NM_001130438.2(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100
NM_001134363.1(RBM20):c.2303G>C (p.Ser768=) rs1417635
NM_001134363.2(RBM20):c.1275+13A>G rs373230569
NM_001134363.2(RBM20):c.1286T>C (p.Leu429Pro) rs61735272
NM_001134363.2(RBM20):c.1364C>T (p.Ser455Leu) rs189569984
NM_001134363.2(RBM20):c.1801-11G>C rs12572941
NM_001134363.2(RBM20):c.1881-3C>T rs138436392
NM_001134363.2(RBM20):c.1900C>T (p.Arg634Trp) rs796734066
NM_001134363.2(RBM20):c.1986G>A (p.Pro662=) rs537723089
NM_001134363.2(RBM20):c.1992C>T (p.Pro664=) rs41292592
NM_001134363.2(RBM20):c.3144C>T (p.Ser1048=) rs75858380
NM_001134363.2(RBM20):c.3170G>A (p.Arg1057Gln) rs188054898
NM_001134363.2(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219
NM_001134363.2(RBM20):c.3452-9G>C rs7070640
NM_001134363.2(RBM20):c.3504G>A (p.Leu1168=) rs377742289
NM_001134363.2(RBM20):c.3667G>C (p.Glu1223Gln) rs942077
NM_001134363.2(RBM20):c.517C>A (p.Pro173Thr) rs7908490
NM_001134363.2(RBM20):c.695G>A (p.Gly232Asp) rs61735268
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621
NM_001135599.3(TGFB2):c.1017-6delT rs11285412
NM_001141974.2(ATP13A2):c.3361A>T (p.Thr1121Ser) rs41273151
NM_001142800.1(EYS):c.1300-3C>T rs1936439
NM_001142800.1(EYS):c.1712A>G (p.Gln571Arg) rs61753610
NM_001142800.1(EYS):c.1809C>T (p.Val603=) rs9345601
NM_001142800.1(EYS):c.6977G>A (p.Arg2326Gln) rs4710457
NM_001143979.1(NDE1):c.948-6986C>T rs1050162
NM_001143979.1(NDE1):c.948-7025C>T rs1050163
NM_001146261.2(SYT14):c.1554T>C (p.Tyr518=) rs17188183
NM_001148.4(ANK2):c.11673T>C (p.His3891=) rs2293324
NM_001148.4(ANK2):c.4745G>A (p.Arg1582Gln) rs138842207
NM_001148.4(ANK2):c.5469C>T (p.Pro1823=) rs33966911
NM_001148.4(ANK2):c.7106T>C (p.Val2369Ala) rs28377576
NM_001148.4(ANK2):c.7110A>G (p.Gln2370=) rs3733615
NM_001148.4(ANK2):c.9648A>G (p.Glu3216=) rs10013743
NM_001163809.1(WDR81):c.4971A>G (p.Leu1657=) rs3809872
NM_001163809.1(WDR81):c.5127G>A (p.Pro1709=) rs8065251
NM_001165928.3(DAG1):c.2256C>T (p.His752=) rs1801143
NM_001166111.1(PNPLA6):c.2389G>A (p.Val797Met) rs145988230
NM_001182.4(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684
NM_001184880.1(PCDH19):c.1294A>G (p.Met432Val) rs200728466
NM_001184880.1(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774
NM_001204831.2(ANO10):c.1066A>G (p.Ser356Gly) rs56389778
NM_001204831.2(ANO10):c.1385G>A (p.Arg462Gln) rs3772165
NM_001204831.2(ANO10):c.1682C>T (p.Thr561Met) rs17409162
NM_001204831.2(ANO10):c.980A>G (p.Tyr327Cys) rs146569520
NM_001232.3(CASQ2):c.1185C>T (p.Asp395=) rs7413162
NM_001256006.1(SYT14):c.561_563delAGA (p.Glu187del) rs2307890
NM_001256054.2(C9orf72):c.620A>G (p.Asn207Ser) rs17769294
NM_001256267.1(MYPN):c.3124C>T (p.Arg1042Cys) rs151282801
NM_001256268.1(MYPN):c.578-14T>A rs201156035
NM_001256714.1(DNAAF3):c.1079A>G (p.Glu360Gly) rs2365725
NM_001256714.1(DNAAF3):c.1257G>A (p.Pro419=) rs891187
NM_001256714.1(DNAAF3):c.1440-8A>G rs28377509
NM_001256714.1(DNAAF3):c.870T>C (p.Ala290=) rs7260320
NM_001256714.1(DNAAF3):c.994-14C>T rs7260371
NM_001278064.1(GRM1):c.2793G>A (p.Lys931=) rs2942
NM_001278064.1(GRM1):c.2977T>C (p.Ser993Pro) rs6923492
NM_001278064.1(GRM1):c.3168T>G (p.Gly1056=) rs6923864
NM_001278064.1(GRM1):c.3213T>G (p.Pro1071=) rs1047006
NM_001278064.1(GRM1):c.3495C>A (p.Pro1165=) rs9373491
NM_001278344.1(ACTN2):c.1963A>C (p.Ile655Leu) rs397516577
NM_001281724.2(BTD):c.1177C>T (p.Pro393Ser) rs35034250
NM_001297.4(CNGB1):c.1122-15C>T rs2303778
NM_001360.2(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.2(DHCR7):c.964-1G>C rs138659167
NM_001363.4(DKC1):c.1512_1514dupGAA (p.Lys505_Ala506insLys) rs782576893
NM_001390.4(DTNA):c.1663-10G>T rs192561043
NM_001390.4(DTNA):c.2081+14G>A rs76713874
NM_001390.4(DTNA):c.210G>A (p.Leu70=) rs117571555
NM_001482.2(GATM):c.1252T>C (p.Leu418=) rs1145086
NM_001482.2(GATM):c.330A>T (p.Gln110His) rs1288775
NM_001482.2(GATM):c.69+13C>T rs573273215
NM_001558.3(IL10RA):c.475A>G (p.Ser159Gly) rs3135932
NM_001723.5(DST):c.739C>G (p.Pro247Ala) rs151271595
NM_001875.4(CPS1):c.-4_-3insTTC rs61509952
NM_001875.4(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001875.4(CPS1):c.1032C>T (p.Thr344=) rs2229589
NM_001875.4(CPS1):c.2679C>G (p.Gly893=) rs2287599
NM_001876.3(CPT1A):c.823G>A (p.Ala275Thr) rs2229738
NM_001909.4(CTSD):c.1072-7G>A rs149019571
NM_001909.4(CTSD):c.353-12C>T rs141523461
NM_001931.4(DLAT):c.570A>G (p.Gln190=) rs143107853
NM_001931.4(DLAT):c.946C>T (p.Pro316Ser) rs149088081
NM_001999.3(FBN2):c.5675-9C>T rs27713
NM_002076.3(GNS):c.363G>A (p.Lys121=) rs2230291
NM_002109.5(HARS):c.1458+7G>A rs58302597
NM_002234.3(KCNA5):c.1149T>C (p.Gly383=) rs2359641
NM_002247.3(KCNMA1):c.3021C>T (p.Thr1007=) rs45527834
NM_002290.4(LAMA4):c.1014G>A (p.Thr338=) rs147069572
NM_002290.4(LAMA4):c.1137G>A (p.Glu379=) rs147894075
NM_002290.4(LAMA4):c.1169-8C>G rs73538515
NM_002290.4(LAMA4):c.2150G>A (p.Arg717Lys) rs146868519
NM_002290.4(LAMA4):c.2377C>T (p.Arg793Cys) rs202184174
NM_002290.4(LAMA4):c.2382G>A (p.Thr794=) rs142559688
NM_002290.4(LAMA4):c.2634C>T (p.Leu878=) rs35772073
NM_002290.4(LAMA4):c.3033G>T (p.Leu1011Phe) rs183262122
NM_002290.4(LAMA4):c.3218G>A (p.Arg1073Gln) rs41289902
NM_002290.4(LAMA4):c.4044C>T (p.Phe1348=) rs34753919
NM_002290.4(LAMA4):c.4152T>C (p.Tyr1384=) rs35042032
NM_002290.4(LAMA4):c.456T>A (p.Ala152=) rs149106800
NM_002290.4(LAMA4):c.842C>G (p.Ala281Gly) rs150084275
NM_002290.4(LAMA4):c.867C>T (p.Ser289=) rs17073495
NM_002290.4(LAMA4):c.903T>C (p.His301=) rs143580603
NM_002294.2(LAMP2):c.-23_-15delGTCGCCGCC rs193922648
NM_002294.2(LAMP2):c.339C>T (p.Ser113=) rs147369153
NM_002294.2(LAMP2):c.661G>A (p.Gly221Arg) rs145169006
NM_002294.2(LAMP2):c.755T>G (p.Ile252Ser) rs141541387
NM_002294.2(LAMP2):c.927C>T (p.Ser309=) rs73219144
NM_002303.5(LEPR):c.1968G>C (p.Lys656Asn) rs1805094
NM_002435.2(MPI):c.10C>T (p.Pro4Ser) rs143982014
NM_002474.2(MYH11):c.4242T>G (p.Ala1414=) rs2075511
NM_002538.3(OCLN):c.1512G>C (p.Lys504Asn) rs776456723
NM_002547.2(OPHN1):c.902C>T (p.Thr301Met) rs138108344
NM_002691.3(POLD1):c.1138-8A>G rs41544624
NM_002691.3(POLD1):c.1977C>T (p.Ile659=) rs45605236
NM_002691.3(POLD1):c.2178G>C (p.Gln726His) rs747483140
NM_002691.3(POLD1):c.80A>T (p.Asp27Val) rs150066950
NM_002739.4(PRKCG):c.567T>C (p.Asn189=) rs3745406
NM_002739.4(PRKCG):c.72C>T (p.Ala24=) rs2547362
NM_002769.4(PRSS1):c.486T>C (p.Asp162=) rs6666
NM_002860.3(ALDH18A1):c.2207-3C>T rs149309642
NM_002968.2(SALL1):c.475_477dupAGC (p.Ser159_Gly160insSer) rs113614842
NM_003035.2(STIL):c.257C>T (p.Ala86Val) rs3125630
NM_003035.2(STIL):c.2951A>G (p.His984Arg) rs13376679
NM_003070.4(SMARCA2):c.705_707delGCA (p.Gln238del) rs113070757
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.3(SPG7):c.1045G>A (p.Gly349Ser) rs141659620
NM_003159.2(CDKL5):c.145+17A>G rs199814742
NM_003159.2(CDKL5):c.3003C>T (p.His1001=) rs36022183
NM_003159.2(CDKL5):c.3084G>A (p.Thr1028=) rs139155110
NM_003165.3(STXBP1):c.1548C>T (p.Ser516=) rs145304925
NM_003165.3(STXBP1):c.1702+10C>T rs147607230
NM_003165.3(STXBP1):c.247-8A>G rs199827018
NM_003165.3(STXBP1):c.325+8C>T rs117372398
NM_003265.2(TLR3):c.1234C>T (p.Leu412Phe) rs3775291
NM_003282.3(TNNI2):c.60T>C (p.Ser20=) rs907610
NM_003283.5(TNNT1):c.129-9T>G rs67795913
NM_003384.2(VRK1):c.45A>G (p.Ala15=) rs2145635
NM_003384.2(VRK1):c.705C>T (p.Gly235=) rs2230532
NM_003482.3(KMT2D):c.10192A>G (p.Met3398Val) rs75937132
NM_003588.3(CUL4B):c.1911C>T (p.Cys637=) rs148700620
NM_003640.4(ELP1):c.2087G>C (p.Arg696Pro) rs137853022
NM_003640.4(ELP1):c.3069G>C (p.Leu1023=) rs1063110
NM_003730.5(RNASET2):c.706C>T (p.Arg236Trp) rs11159
NM_003900.4(SQSTM1):c.876C>T (p.Asp292=) rs4935
NM_003900.4(SQSTM1):c.936G>A (p.Arg312=) rs4797
NM_004064.4(CDKN1B):c.426G>A (p.Thr142=) rs149775942
NM_004211.4(SLC6A5):c.266C>A (p.Ala89Glu) rs61736602
NM_004247.3(EFTUD2):c.426+8G>A rs2289677
NM_004247.3(EFTUD2):c.762T>C (p.Thr254=) rs2289674
NM_004247.3(EFTUD2):c.994+6C>T rs11654183
NM_004252.4(SLC9A3R1):c.328C>G (p.Leu110Val) rs35910969
NM_004268.4(MED17):c.1092G>A (p.Pro364=) rs34057693
NM_004304.4(ALK):c.3594C>T (p.Leu1198=) rs56071005
NM_004304.4(ALK):c.4785C>T (p.Ala1595=) rs76150405
NM_004366.5(CLCN2):c.2063G>A (p.Arg688Gln) rs111656822
NM_004463.2(FGD1):c.395G>A (p.Arg132Gln) rs145644275
NM_004463.2(FGD1):c.935C>T (p.Pro312Leu) rs28935498
NM_004519.3(KCNQ3):c.988C>T (p.Arg330Cys) rs118192251
NM_004525.3(LRP2):c.11996T>G (p.Val3999Gly) rs79723119
NM_004525.3(LRP2):c.92C>T (p.Ala31Val) rs144829356
NM_004543.4(NEB):c.771T>C (p.Ala257=) rs4611637
NM_004572.3(PKP2):c.1093A>G (p.Met365Val) rs143900944
NM_004572.3(PKP2):c.1097T>C (p.Leu366Pro) rs1046116
NM_004572.3(PKP2):c.1171-11T>C rs183414126
NM_004572.3(PKP2):c.1211dupT (p.Val406Serfs) rs397516989
NM_004572.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145
NM_004572.3(PKP2):c.2133C>T (p.Ala711=) rs529442984
NM_004572.3(PKP2):c.2146-1G>C rs193922674
NM_004572.3(PKP2):c.2365A>G (p.Ile789Val) rs551045165
NM_004572.3(PKP2):c.2431C>A (p.Arg811Ser) rs139734328
NM_004572.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281
NM_004572.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_004572.3(PKP2):c.951G>A (p.Ala317=) rs61729382
NM_004595.4(SMS):c.1026A>C (p.Ser342=) rs61732077
NM_004646.3(NPHS1):c.1223G>A (p.Arg408Gln) rs33950747
NM_004646.3(NPHS1):c.2289C>T (p.Val763=) rs437168
NM_004646.3(NPHS1):c.3230A>G (p.Asn1077Ser) rs4806213
NM_004646.3(NPHS1):c.349G>A (p.Glu117Lys) rs3814995
NM_004715.4(CTDP1):c.2817T>C (p.Asp939=) rs626169
NM_004836.6(EIF2AK3):c.1763+6A>T rs6750998
NM_004836.6(EIF2AK3):c.1791A>G (p.Gln597=) rs1805164
NM_004836.6(EIF2AK3):c.2110G>T (p.Ala704Ser) rs1805165
NM_004836.6(EIF2AK3):c.497A>G (p.Gln166Arg) rs13045
NM_004840.2(ARHGEF6):c.362G>A (p.Arg121His) rs35106300
NM_004949.4(DSC2):c.2125+1delG rs794728072
NM_004949.4(DSC2):c.304G>A (p.Glu102Lys) rs144799937
NM_004949.4(DSC2):c.943-1G>A rs796756333
NM_004977.2(KCNC3):c.315G>C (p.Thr105=) rs368049323
NM_005006.6(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826
NM_005045.3(RELN):c.10074A>G (p.Ala3358=) rs1062831
NM_005045.3(RELN):c.10182-11G>A rs57844600
NM_005045.3(RELN):c.2932A>G (p.Thr978Ala) rs3025962
NM_005045.3(RELN):c.5618C>T (p.Thr1873Ile) rs41275239
NM_005045.3(RELN):c.578-3T>C rs607755
NM_005045.3(RELN):c.6078C>T (p.Asn2026=) rs79610081
NM_005045.3(RELN):c.6084C>T (p.Gly2028=) rs114019779
NM_005045.3(RELN):c.7887T>C (p.Pro2629=) rs56345626
NM_005045.3(RELN):c.8046T>C (p.His2682=) rs2229864
NM_005045.3(RELN):c.8136A>G (p.Leu2712=) rs3808039
NM_005045.3(RELN):c.8843+3A>C rs200124755
NM_005045.3(RELN):c.8843+7G>C rs2711885
NM_005249.4(FOXG1):c.1323C>T (p.Ser441=) rs144434028
NM_005249.4(FOXG1):c.447C>T (p.Ala149=) rs112803404
NM_005270.4(GLI2):c.4558G>A (p.Asp1520Asn) rs114814747
NM_005535.2(IL12RB1):c.467G>A (p.Arg156His) rs11575926
NM_005535.2(IL12RB1):c.641A>G (p.Gln214Arg) rs11575934
NM_005670.3(EPM2A):c.159C>G (p.Ala53=) rs2235482
NM_005670.3(EPM2A):c.163C>A (p.Gln55Lys) rs187930476
NM_005751.4(AKAP9):c.10426A>C (p.Arg3476=) rs1063243
NM_005751.4(AKAP9):c.1389G>T (p.Met463Ile) rs6964587
NM_005751.4(AKAP9):c.3075C>T (p.Thr1025=) rs1989779
NM_005751.4(AKAP9):c.3504A>G (p.Glu1168=) rs13245393
NM_005751.4(AKAP9):c.5778C>T (p.Gly1926=) rs10236397
NM_005751.4(AKAP9):c.6945+8C>T rs733957
NM_005751.4(AKAP9):c.8375A>G (p.Asn2792Ser) rs6960867
NM_005751.4(AKAP9):c.8665C>T (p.Leu2889=) rs10228334
NM_005751.4(AKAP9):c.8935C>T (p.Pro2979Ser) rs1063242
NM_005751.4(AKAP9):c.9145C>T (p.Leu3049=) rs28927678
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) rs13447324
NM_005912.2(MC4R):c.110A>T (p.Asp37Val) rs13447325
NM_006031.5(PCNT):c.3339T>C (p.Ser1113=) rs61735805
NM_006031.5(PCNT):c.4345C>G (p.Gln1449Glu) rs139432601
NM_006031.5(PCNT):c.6384A>G (p.Thr2128=) rs60444527
NM_006031.5(PCNT):c.720+17T>C rs9982233
NM_006031.5(PCNT):c.7914-16C>T rs2839257
NM_006031.5(PCNT):c.8752-5A>C rs149444205
NM_006037.3(HDAC4):c.1794G>A (p.Glu598=) rs148813865
NM_006037.3(HDAC4):c.684G>A (p.Pro228=) rs144387989
NM_006059.3(LAMC3):c.1218G>A (p.Thr406=) rs2293518
NM_006059.3(LAMC3):c.1564C>T (p.Pro522Ser) rs869457
NM_006059.3(LAMC3):c.1932C>T (p.Ser644=) rs12349966
NM_006059.3(LAMC3):c.219T>G (p.His73Gln) rs3739512
NM_006059.3(LAMC3):c.2308C>G (p.Arg770Gly) rs3739510
NM_006059.3(LAMC3):c.3250G>C (p.Glu1084Gln) rs146221263
NM_006059.3(LAMC3):c.3379G>A (p.Glu1127Lys) rs140955110
NM_006059.3(LAMC3):c.4298C>T (p.Thr1433Met) rs7024108
NM_006059.3(LAMC3):c.4378-4A>G rs4740413
NM_006059.3(LAMC3):c.454C>T (p.Arg152Cys) rs45628035
NM_006059.3(LAMC3):c.521C>A (p.Pro174His) rs2275137
NM_006059.3(LAMC3):c.855A>G (p.Ala285=) rs2275132
NM_006059.3(LAMC3):c.963C>T (p.Ala321=) rs2275131
NM_006194.3(PAX9):c.717C>T (p.His239=) rs12881240
NM_006194.3(PAX9):c.718G>C (p.Ala240Pro) rs4904210
NM_006214.3(PHYH):c.153C>T (p.Asn51=) rs1747682
NM_006214.3(PHYH):c.636A>G (p.Thr212=) rs473407
NM_006214.3(PHYH):c.85C>T (p.Pro29Ser) rs28938169
NM_006267.4(RANBP2):c.1754C>T (p.Thr585Met) rs121434502
NM_006420.2(ARFGEF2):c.4131C>T (p.Ile1377=) rs2281582
NM_006432.4(NPC2):c.363+7G>A rs200463204
NM_006446.4(SLCO1B1):c.388A>G (p.Asn130Asp) rs2306283
NM_006446.4(SLCO1B1):c.463C>A (p.Pro155Thr) rs11045819
NM_006446.4(SLCO1B1):c.521T>C (p.Val174Ala) rs4149056
NM_006493.2(CLN5):c.1103A>G (p.Lys368Arg) rs1800209
NM_006493.2(CLN5):c.595C>T (p.Arg199Ter) rs546989392
NM_006493.3(CLN5):c.579C>A (p.Asn193Lys) rs138611001
NM_006594.4(AP4B1):c.1723A>G (p.Ile575Val) rs114734921
NM_006757.3(TNNT3):c.762C>T (p.Gly254=) rs4727
NM_006772.2(SYNGAP1):c.84T>C (p.Ser28=) rs142359891
NM_006846.3(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116
NM_006846.3(SPINK5):c.802C>T (p.Arg268Cys) rs142558269
NM_006892.3(DNMT3B):c.1150G>A (p.Ala384Thr) rs150682895
NM_006946.3(SPTBN2):c.157+5G>A rs150159444
NM_006946.3(SPTBN2):c.3101T>C (p.Val1034Ala) rs506028
NM_006953.3(UPK3A):c.402C>T (p.Val134=) rs2673088
NM_006953.3(UPK3A):c.460G>C (p.Ala154Pro) rs1057353
NM_006953.3(UPK3A):c.549A>G (p.Ser183=) rs1135360
NM_007075.3(WDR45):c.354C>T (p.Ile118=) rs140596058
NM_007254.3(PNKP):c.1127-8C>T rs3739203
NM_007254.3(PNKP):c.188C>T (p.Ala63Val) rs3739173
NM_007254.3(PNKP):c.672C>T (p.Arg224=) rs151180981
NM_007254.3(PNKP):c.939T>C (p.Phe313=) rs149731642
NM_007294.3(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950
NM_007294.3(BRCA1):c.114G>A (p.Lys38=) rs1800062
NM_007294.3(BRCA1):c.134+3A>C rs80358064
NM_007294.3(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931
NM_007294.3(BRCA1):c.1487G>A (p.Arg496His) rs28897677
NM_007294.3(BRCA1):c.1648A>C (p.Asn550His) rs56012641
NM_007294.3(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.3(BRCA1):c.1961delA (p.Lys654Serfs) rs80357522
NM_007294.3(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850
NM_007294.3(BRCA1):c.2082C>T (p.Ser694=) rs1799949
NM_007294.3(BRCA1):c.2311T>C (p.Leu771=) rs16940
NM_007294.3(BRCA1):c.2315T>C (p.Val772Ala) rs80357467
NM_007294.3(BRCA1):c.2393C>T (p.Pro798Leu) rs876660005
NM_007294.3(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.3(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.3(BRCA1):c.288C>T (p.Asp96=) rs146085503
NM_007294.3(BRCA1):c.302-3C>G rs80358051
NM_007294.3(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941
NM_007294.3(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852
NM_007294.3(BRCA1):c.3328_3330delAAG (p.Lys1110del) rs80358335
NM_007294.3(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942
NM_007294.3(BRCA1):c.3640G>T (p.Glu1214Ter) rs80356923
NM_007294.3(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687
NM_007294.3(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686
NM_007294.3(BRCA1):c.3756_3759delGTCT (p.Ser1253Argfs) rs80357868
NM_007294.3(BRCA1):c.396C>A (p.Asn132Lys) rs80357413
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.3(BRCA1):c.4065_4068delTCAA (p.Asn1355Lysfs) rs80357508
NM_007294.3(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.3(BRCA1):c.4308T>C (p.Ser1436=) rs1060915
NM_007294.3(BRCA1):c.441+18C>T rs371973519
NM_007294.3(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744
NM_007294.3(BRCA1):c.4644G>A (p.Thr1548=) rs28897692
NM_007294.3(BRCA1):c.4776C>G (p.Asn1592Lys) rs761925468
NM_007294.3(BRCA1):c.4812A>G (p.Gln1604=) rs28897693
NM_007294.3(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.3(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967
NM_007294.3(BRCA1):c.4986+6T>C rs80358086
NM_007294.3(BRCA1):c.5074+3A>G rs80358181
NM_007294.3(BRCA1):c.5216A>T (p.Asp1739Val) rs80357227
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs397507247
NM_007294.3(BRCA1):c.5278-14C>G rs80358105
NM_007294.3(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033
NM_007294.3(BRCA1):c.5406+5G>A rs80358073
NM_007294.3(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465
NM_007294.3(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_007294.3(BRCA1):c.571G>A (p.Val191Ile) rs80357090
NM_007294.3(BRCA1):c.591C>T (p.Cys197=) rs1799965
NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs) rs386833395
NM_007294.3(BRCA1):c.736T>G (p.Leu246Val) rs28897675
NM_007294.3(BRCA1):c.81-14C>T rs80358006
NM_007299.3(BRCA1):c.2021-1442G>C rs397509275
NM_007347.4(AP4E1):c.3387G>A (p.Gln1129=) rs3825798
NM_007347.4(AP4E1):c.487T>C (p.Cys163Arg) rs2306331
NM_012144.3(DNAI1):c.1003G>A (p.Val335Ile) rs11793196
NM_012179.3(FBXO7):c.122+9G>A rs192327462
NM_012179.3(FBXO7):c.693C>T (p.Ser231=) rs61752254
NM_012213.2(MLYCD):c.642-5C>T rs2278037
NM_012233.2(RAB3GAP1):c.1793A>G (p.Asn598Ser) rs10445686
NM_012233.2(RAB3GAP1):c.2265T>C (p.Phe755=) rs17261772
NM_012309.4(SHANK2):c.2453G>A (p.Arg818His) rs117843717
NM_013275.5(ANKRD11):c.1903_1907delAAACA (p.Lys635Glnfs) rs886041125
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149
NM_014053.3(FLVCR1):c.154G>C (p.Ala52Pro) rs11120047
NM_014053.3(FLVCR1):c.1631C>T (p.Thr544Met) rs3207090
NM_014080.4(DUOX2):c.602dupG (p.Gln202Thrfs) rs567500345
NM_014244.4(ADAMTS2):c.722G>A (p.Arg241His) rs11750821
NM_014363.5(SACS):c.10338G>A (p.Gln3446=) rs2737701
NM_014363.5(SACS):c.1373C>T (p.Thr458Ile) rs61729954
NM_014363.5(SACS):c.1656A>G (p.Leu552=) rs1536365
NM_014363.5(SACS):c.3129A>G (p.Ser1043=) rs148878361
NM_014363.5(SACS):c.696T>A (p.Asn232Lys) rs2031640
NM_014391.2(ANKRD1):c.-17A>G rs79341122
NM_014391.2(ANKRD1):c.150C>G (p.Ala50=) rs147484763
NM_014391.2(ANKRD1):c.208-16C>T rs79793575
NM_014391.2(ANKRD1):c.346-17_346-10delATTTATTT rs397517250
NM_014391.2(ANKRD1):c.346-20_346-19delTT rs398014415
NM_014391.2(ANKRD1):c.346-29_346-12del18 rs72003210
NM_014391.2(ANKRD1):c.652-10A>T rs397517252
NM_014391.2(ANKRD1):c.827C>T (p.Ala276Val) rs35550482
NM_014467.2(SRPX2):c.980A>G (p.Asn327Ser) rs121918363
NM_014625.3(NPHS2):c.954C>T (p.Ala318=) rs1410592
NM_014630.2(ZNF592):c.2238A>G (p.Gln746=) rs2241645
NM_014630.2(ZNF592):c.2777G>A (p.Ser926Asn) rs8182086
NM_014694.3(ADAMTSL2):c.1641C>T (p.His547=) rs7868941
NM_014694.3(ADAMTSL2):c.2613G>A (p.Val871=) rs62637566
NM_014714.3(IFT140):c.1968T>C (p.Ser656=) rs8048410
NM_014714.3(IFT140):c.2919C>T (p.Ala973=) rs2235640
NM_014714.3(IFT140):c.3209C>T (p.Ala1070Val) rs2235638
NM_014795.3(ZEB2):c.489C>T (p.Ile163=) rs138859323
NM_014946.3(SPAST):c.131C>T (p.Ser44Leu) rs121908515
NM_015120.4(ALMS1):c.72_77delGGAGGA (p.Glu28_Glu29del) rs55889738
NM_015120.4(ALMS1):c.75_77dupGGA (p.Glu29_Ala30insGlu) rs55889738
NM_015120.4(ALMS1):c.8442A>G (p.Glu2814=) rs886038617
NM_015186.3(VPS13A):c.9255_9269delTGATGATGATGATGA (p.Asp3085_Asp3089del) rs113052866
NM_015192.3(PLCB1):c.2413+9C>T rs138442805
NM_015192.3(PLCB1):c.2565G>A (p.Ala855=) rs2076413
NM_015346.3(ZFYVE26):c.4854C>T (p.Leu1618=) rs151287975
NM_015575.3(GIGYF2):c.3630_3632delACA (p.Gln1216del) rs10555297
NM_015697.8(COQ2):c.196G>T (p.Val66Leu) rs6818847
NM_015697.8(COQ2):c.894T>C (p.Asp298=) rs6535454
NM_015697.8(COQ2):c.990C>T (p.Ser330=) rs1129617
NM_016038.3(SBDS):c.635T>C (p.Ile212Thr) rs79344818
NM_016042.3(EXOSC3):c.498G>A (p.Gln166=) rs7158
NM_016169.3(SUFU):c.910+14C>T rs202247757
NM_016239.3(MYO15A):c.1783G>A (p.Ala595Thr) rs2955365
NM_016239.3(MYO15A):c.1899A>G (p.Pro633=) rs2955366
NM_016239.3(MYO15A):c.2152T>G (p.Trp718Gly) rs2955367
NM_016239.3(MYO15A):c.5826-12A>C rs854778
NM_016239.3(MYO15A):c.5929T>C (p.Cys1977Arg) rs854777
NM_016373.3(WWOX):c.1134C>T (p.Asn378=) rs201088847
NM_016599.4(MYOZ2):c.237A>G (p.Ala79=) rs17851524
NM_016599.4(MYOZ2):c.76+20G>A rs113920336
NM_016725.2(FOLR1):c.292C>T (p.Arg98Trp) rs76191655
NM_016725.2(FOLR1):c.493+2T>C rs144637717
NM_017617.5(NOTCH1):c.1555+10A>G rs11145767
NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=) rs2229971
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=) rs4489420
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=) rs10521
NM_017651.4(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_017745.5(BCOR):c.1260T>C (p.Asp420=) rs5917933
NM_017745.5(BCOR):c.1692A>G (p.Ala564=) rs6520618
NM_017745.5(BCOR):c.4875-4G>T rs5963725
NM_017849.3(TMEM127):c.409+7C>T rs189327749
NM_017890.4(VPS13B):c.3667-7C>T rs35543295
NM_017890.4(VPS13B):c.9567T>C (p.Ser3189=) rs36074608
NM_017890.4(VPS13B):c.9667C>T (p.Arg3223Trp) rs149842139
NM_017950.3(CCDC40):c.1159+12C>T rs2289533
NM_017950.3(CCDC40):c.677-4C>G rs2289530
NM_018109.3(MTPAP):c.484C>T (p.Arg162Cys) rs1047991
NM_018136.4(ASPM):c.10331+8A>G rs10754213
NM_018136.4(ASPM):c.2174-20T>C rs4915344
NM_018136.4(ASPM):c.3138G>A (p.Arg1046=) rs6676084
NM_018136.4(ASPM):c.3579T>A (p.Ser1193=) rs4915337
NM_018136.4(ASPM):c.3742-10T>G rs41299587
NM_018136.4(ASPM):c.441+14C>T rs1571964
NM_018136.4(ASPM):c.7566A>G (p.Leu2522=) rs1412640
NM_018136.4(ASPM):c.849C>T (p.Ser283=) rs6677082
NM_018249.5(CDK5RAP2):c.2274T>C (p.Asp758=) rs2501727
NM_018249.5(CDK5RAP2):c.4618G>C (p.Val1540Leu) rs4837768
NM_018249.5(CDK5RAP2):c.865G>C (p.Glu289Gln) rs4836822
NM_020247.4(COQ8A):c.117G>A (p.Ala39=) rs11549708
NM_020247.4(COQ8A):c.1185C>T (p.Ile395=) rs17849927
NM_020247.4(COQ8A):c.1440C>T (p.Phe480=) rs12593
NM_020247.4(COQ8A):c.1573-20C>G rs2297416
NM_020247.4(COQ8A):c.1716T>C (p.Ser572=) rs3738725
NM_020433.4(JPH2):c.1380G>A (p.Ala460=) rs531877510
NM_020433.4(JPH2):c.1513G>A (p.Gly505Ser) rs140740776
NM_020433.4(JPH2):c.1794C>A (p.Ser598=) rs369883442
NM_020433.4(JPH2):c.1971G>A (p.Glu657=) rs142333841
NM_020433.4(JPH2):c.380-6C>T rs201197277
NM_020433.4(JPH2):c.380-9C>G rs111987307
NM_020433.4(JPH2):c.624C>G (p.Ala208=) rs398124358
NM_020433.4(JPH2):c.648G>A (p.Lys216=) rs796219248
NM_020476.2(ANK1):c.2349C>T (p.Thr783=) rs2304880
NM_020476.2(ANK1):c.2913G>C (p.Leu971=) rs504574
NM_020476.2(ANK1):c.315C>T (p.Asn105=) rs2304871
NM_020476.2(ANK1):c.5265G>A (p.Val1755=) rs750625
NM_020476.2(ANK1):c.5479-3T>C rs515071
NM_020529.2(NFKBIA):c.548-3C>T rs2233418
NM_020717.3(SHROOM4):c.2192A>G (p.Glu731Gly) rs144727288
NM_020774.3(MIB1):c.1830-18T>C rs201761957
NM_020774.3(MIB1):c.2827G>T (p.Val943Phe) rs200035428
NM_020806.4(GPHN):c.26C>G (p.Thr9Ser) rs150226537
NM_021120.3(DLG3):c.409-4G>T rs188475429
NM_021167.4(GATAD1):c.762G>A (p.Gly254=) rs139637606
NM_022089.3(ATP13A2):c.106-8G>A rs200587951
NM_022089.3(ATP13A2):c.1195+10G>A rs55689004
NM_022089.3(ATP13A2):c.132A>G (p.Pro44=) rs200816691
NM_022089.3(ATP13A2):c.1614C>T (p.Pro538=) rs56351817
NM_022089.3(ATP13A2):c.951C>T (p.Cys317=) rs148391179
NM_022464.4(SIL1):c.153A>G (p.Thr51=) rs3088052
NM_023036.4(DNAI2):c.834C>T (p.Thr278=) rs34159194
NM_023073.3(CPLANE1):c.5381C>T (p.Pro1794Leu) rs75589774
NM_023073.3(CPLANE1):c.5901-3T>C rs10805625
NM_023073.3(CPLANE1):c.6098T>G (p.Phe2033Cys) rs10076911
NM_023073.3(CPLANE1):c.81+20C>T rs6876576
NM_024079.4(ALG8):c.665A>G (p.Asn222Ser) rs665278
NM_024422.3(DSC2):c.111A>G (p.Leu37=) rs12954874
NM_024422.3(DSC2):c.2326A>G (p.Ile776Val) rs1893963
NM_024422.3(DSC2):c.2687_2688insGA (p.Ala897Lysfs) rs200056085
NM_024422.4(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.4(DSC2):c.2393G>A (p.Arg798Gln) rs61731921
NM_024422.4(DSC2):c.2616C>T (p.Cys872=) rs61731920
NM_024422.4(DSC2):c.270G>A (p.Glu90=) rs138643506
NM_024422.4(DSC2):c.32A>G (p.Asn11Ser) rs868333
NM_024422.4(DSC2):c.351A>G (p.Thr117=) rs117812913
NM_024570.3(RNASEH2B):c.455A>G (p.Asn152Ser) rs146451037
NM_024570.3(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_024589.2(ROGDI):c.713G>A (p.Arg238His) rs138409264
NM_024596.4(MCPH1):c.1175A>G (p.Asp392Gly) rs2515569
NM_024596.4(MCPH1):c.2215-19A>G rs2936531
NM_024596.4(MCPH1):c.228G>T (p.Val76=) rs2305022
NM_024596.4(MCPH1):c.2482C>T (p.Pro828Ser) rs1057091
NM_024596.4(MCPH1):c.911G>T (p.Arg304Ile) rs2083914
NM_024596.4(MCPH1):c.940G>C (p.Asp314His) rs930557
NM_024809.4(TCTN2):c.1099+19T>C rs7137946
NM_024809.4(TCTN2):c.1128T>C (p.Pro376=) rs7966867
NM_024809.4(TCTN2):c.1393+7C>T rs7298440
NM_024809.4(TCTN2):c.891+7G>A rs7313032
NM_025000.3(DCAF17):c.1267-7C>T rs3731981
NM_025000.3(DCAF17):c.150C>T (p.Val50=) rs6751956
NM_025000.3(DCAF17):c.322-14C>T rs192861143
NM_025000.3(DCAF17):c.999A>G (p.Gln333=) rs3731983
NM_025074.6(FRAS1):c.3058C>T (p.Arg1020Cys) rs200292361
NM_025074.6(FRAS1):c.3068G>A (p.Gly1023Glu) rs17459809
NM_025074.6(FRAS1):c.3124G>A (p.Ala1042Thr) rs114077522
NM_025074.6(FRAS1):c.3312T>C (p.Ser1104=) rs35774552
NM_025074.6(FRAS1):c.9806G>A (p.Arg3269Gln) rs61729366
NM_025137.3(SPG11):c.1388T>C (p.Phe463Ser) rs3759871
NM_025137.3(SPG11):c.2083G>A (p.Ala695Thr) rs78183930
NM_025137.3(SPG11):c.395G>A (p.Ser132Asn) rs145132275
NM_025137.3(SPG11):c.6224A>G (p.Asn2075Ser) rs140824939
NM_025137.3(SPG11):c.6258G>T (p.Leu2086=) rs150761878
NM_025137.3(SPG11):c.808G>A (p.Val270Ile) rs80338868
NM_025243.3(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444
NM_025243.3(SLC19A3):c.621A>G (p.Ile207Met) rs145804755
NM_030582.3(COL18A1):c.3369_3377delCCCAGGCCC (p.Pro1124_Pro1126del) rs78227997
NM_030665.3(RAI1):c.4512G>T (p.Leu1504=) rs117995220
NM_030928.3(CDT1):c.700T>C (p.Cys234Arg) rs507329
NM_030928.3(CDT1):c.915T>C (p.His305=) rs510862
NM_031418.3(ANO3):c.1968C>T (p.Ile656=) rs149050831
NM_032193.3(RNASEH2C):c.-10A>G rs77371161
NM_032193.3(RNASEH2C):c.417C>G (p.Gly139=) rs147021687
NM_032193.3(RNASEH2C):c.468G>T (p.Ala156=) rs61736590
NM_032578.3(MYPN):c.1104C>T (p.Gly368=) rs144764983
NM_032578.3(MYPN):c.1134C>T (p.Ile378=) rs145701607
NM_032578.3(MYPN):c.1236C>A (p.Thr412=) rs151220474
NM_032578.3(MYPN):c.1245+20A>G rs111634581
NM_032578.3(MYPN):c.1246-19G>A rs75739924
NM_032578.3(MYPN):c.1293C>A (p.Ile431=) rs147184158
NM_032578.3(MYPN):c.1893G>A (p.Arg631=) rs145440469
NM_032578.3(MYPN):c.1935C>T (p.Pro645=) rs71535754
NM_032578.3(MYPN):c.2880T>G (p.Ser960=) rs146028308
NM_032578.3(MYPN):c.2925+9G>C rs12241644
NM_032578.3(MYPN):c.3075+20C>T rs377273417
NM_032801.4(JAM3):c.410-14_410-13insCT rs3216140
NM_032975.3(DTNA):c.1787G>A (p.Arg596Gln) rs138143719
NM_032978.6(DTNA):c.604-14G>T rs397517447
NM_033028.4(BBS4):c.1061T>C (p.Ile354Thr) rs2277598
NM_033028.4(BBS4):c.137A>G (p.Lys46Arg) rs75295839
NM_033084.4(FANCD2):c.1275C>T (p.Tyr425=) rs764447374
NM_033118.3(MYLK2):c.1295+4C>A rs113936360
NM_033118.3(MYLK2):c.1356G>A (p.Glu452=) rs147329431
NM_033118.3(MYLK2):c.972+14G>A rs193922713
NM_033305.2(VPS13A):c.1758T>C (p.Ala586=) rs149037185
NM_033305.2(VPS13A):c.2037+8C>A rs41289961
NM_033305.2(VPS13A):c.2667+11C>T rs375898960
NM_033305.2(VPS13A):c.4642G>A (p.Glu1548Lys) rs41289967
NM_033305.2(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033
NM_033305.2(VPS13A):c.6492T>C (p.Asp2164=) rs7025532
NM_033305.2(VPS13A):c.7457T>C (p.Ile2486Thr) rs141138349
NM_033305.2(VPS13A):c.775A>G (p.Asn259Asp) rs41307461
NM_033305.2(VPS13A):c.8676C>T (p.Ile2892=) rs117485827
NM_033305.2(VPS13A):c.9400-15A>C rs117688596
NM_053025.3(MYLK):c.1005C>T (p.Thr335=) rs4678047
NM_053025.3(MYLK):c.1486C>G (p.Leu496Val) rs9833275
NM_053025.3(MYLK):c.1804+8C>T rs820355
NM_053025.3(MYLK):c.3402C>T (p.Asn1134=) rs865358
NM_053025.3(MYLK):c.3558C>T (p.Thr1186=) rs40305
NM_053025.3(MYLK):c.439C>T (p.Pro147Ser) rs9840993
NM_130791.3(WWOX):c.544A>G (p.Lys182Glu) rs77067228
NM_133433.3(NIPBL):c.6109-3T>C rs145778995
NM_133647.1(SLC12A6):c.1551G>C (p.Pro517=) rs17236798
NM_133647.1(SLC12A6):c.2023C>T (p.Arg675Ter) rs121908428
NM_138694.3(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032
NM_138694.3(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726
NM_138694.3(PKHD1):c.353delG (p.Ser118Ilefs) rs398124483
NM_138694.3(PKHD1):c.5896C>T (p.Leu1966=) rs1266923
NM_144599.4(NIPA1):c.441A>G (p.Thr147=) rs11263683
NM_144612.6(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197
NM_145046.4(CALR3):c.245A>G (p.Lys82Arg) rs142951029
NM_145046.4(CALR3):c.398-6T>C rs376479901
NM_145046.4(CALR3):c.564delT (p.Gln189Serfs) rs747656642
NM_145046.4(CALR3):c.60C>G (p.Thr20=) rs370721650
NM_145046.4(CALR3):c.861G>A (p.Thr287=) rs118131979
NM_152594.2(SPRED1):c.1044T>C (p.Val348=) rs3751526
NM_152594.2(SPRED1):c.291G>A (p.Lys97=) rs7182445
NM_152594.2(SPRED1):c.424-8C>A rs7180446
NM_152618.2(BBS12):c.1380G>C (p.Val460=) rs13135766
NM_152618.2(BBS12):c.1399G>A (p.Asp467Asn) rs13135778
NM_152618.2(BBS12):c.1410C>T (p.Cys470=) rs13135445
NM_152618.2(BBS12):c.1872A>G (p.Gln624=) rs13102440
NM_172250.2(MMAA):c.747G>A (p.Ser249=) rs11721553
NM_174936.3(PCSK9):c.1026A>G (p.Gln342=) rs509504
NM_174936.3(PCSK9):c.1380A>G (p.Val460=) rs540796
NM_174936.3(PCSK9):c.141C>T (p.Ser47=) rs28385701
NM_174936.3(PCSK9):c.1420G>A (p.Val474Ile) rs562556
NM_174936.3(PCSK9):c.158C>T (p.Ala53Val) rs11583680
NM_174936.3(PCSK9):c.2009G>A (p.Gly670Glu) rs505151
NM_174936.3(PCSK9):c.207+15A>G rs2495482
NM_174936.3(PCSK9):c.524-11G>A rs11800231
NM_174936.3(PCSK9):c.657+9G>A rs11800243
NM_174936.3(PCSK9):c.658-7C>T rs2483205
NM_174936.3(PCSK9):c.720C>T (p.Gly240=) rs41297883
NM_174936.3(PCSK9):c.753C>T (p.Arg251=) rs28385710
NM_174936.3(PCSK9):c.799+3A>G rs2495477
NM_175073.2(APTX):c.971A>T (p.Gln324Leu) rs141493373
NM_178443.2(FERMT3):c.1905C>T (p.Ile635=) rs142025489
NM_178452.5(DNAAF1):c.1296G>C (p.Glu432Asp) rs9972733
NM_181426.1(CCDC39):c.2397G>A (p.Val799=) rs7612917
NM_182896.2(ARL13B):c.1043C>G (p.Thr348Ser) rs33944211
NM_182914.2(SYNE2):c.12001T>C (p.Trp4001Arg) rs2792205
NM_182914.2(SYNE2):c.12002G>A (p.Trp4001Ter) rs2781377
NM_182914.2(SYNE2):c.1721T>C (p.Ile574Thr) rs9944035
NM_198428.2(BBS9):c.1363G>A (p.Ala455Thr) rs11773504
NM_198428.2(BBS9):c.2299-20A>C rs17727583
NM_198586.2(NHLRC1):c.386C>A (p.Pro129His) rs750465793
NM_198859.3(PRICKLE2):c.816T>C (p.Asp272=) rs27673
NM_198994.2(TGM6):c.1476G>A (p.Lys492=) rs2295077
NM_198994.2(TGM6):c.172A>G (p.Met58Val) rs2076405
NM_199242.2(UNC13D):c.279C>T (p.Pro93=) rs3744007
NM_199292.2(TH):c.16G>A (p.Ala6Thr) rs74555599
NM_199292.2(TH):c.360G>A (p.Arg120=) rs76240471
NM_199292.2(TH):c.777G>A (p.Glu259=) rs11564716
NM_201590.2(CACNB2):c.*10G>T rs4747352
NM_206828.3(NLRP7):c.2682T>C (p.Tyr894=) rs269951
NM_206828.3(NLRP7):c.2775A>G (p.Ala925=) rs269950
NM_206828.3(NLRP7):c.390G>A (p.Gln130=) rs775883
NM_207352.3(CYP4V2):c.64C>G (p.Leu22Val) rs1055138
NM_207361.5(FREM2):c.2250C>T (p.Asp750=) rs41292755

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