ClinVar Miner

Variants from Mayo Clinic Genetic Testing Laboratories,Mayo Clinic with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Mayo Clinic Genetic Testing Laboratories,Mayo Clinic: Collection method of the submission from Mayo Clinic Genetic Testing Laboratories,Mayo Clinic:
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
937 970 123 1149 469 29 114 1561

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
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic pathogenic likely pathogenic uncertain significance likely benign benign affects drug response risk factor other
pathogenic 24 67 19 2 1 0 0 7 2
likely pathogenic 86 1 13 2 1 0 0 0 0
uncertain significance 37 45 7 159 103 1 0 4 2
likely benign 5 2 193 1 376 0 0 0 0
benign 9 4 86 620 90 0 1 1 11

Submitter to submitter summary #

Total submitters: 98
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 0 498 0 471 166 0 7 643
GeneDx 0 902 0 296 99 0 32 427
Invitae 0 651 0 231 103 3 22 359
Ambry Genetics 0 494 0 139 52 0 31 222
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 607 0 115 72 3 10 200
Genetic Services Laboratory, University of Chicago 0 125 0 175 16 0 5 196
PreventionGenetics 0 653 0 119 31 0 1 151
Color 0 320 0 88 52 0 7 147
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 110 64 31 25 0 10 130
Integrated Genetics/Laboratory Corporation of America 0 302 0 80 36 0 9 125
Department of Pathology and Laboratory Medicine,Sinai Health System 0 177 0 68 17 0 5 90
Counsyl 0 221 0 59 19 0 7 85
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 218 0 64 15 0 2 81
Biesecker Lab/Human Development Section,National Institutes of Health 0 4 46 11 21 0 1 79
True Health Diagnostics 0 73 0 51 13 0 0 64
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 216 0 28 27 0 5 60
OMIM 0 82 0 14 7 12 23 56
Quest Diagnostics Nichols Institute San Juan Capistrano 0 125 0 33 15 0 4 52
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 69 0 23 23 0 5 51
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 169 0 37 6 0 2 45
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 71 0 43 1 0 0 44
Breast Cancer Information Core (BIC) (BRCA2) 0 34 0 10 33 0 0 43
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 138 0 35 5 0 0 40
GeneReviews 0 22 24 6 2 0 8 39
CeGaT Praxis fuer Humangenetik Tuebingen 0 53 0 13 15 0 7 35
Michigan Medical Genetics Laboratories,University of Michigan 0 58 0 31 1 0 0 32
Athena Diagnostics Inc 0 110 0 15 13 0 3 31
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 64 0 24 3 0 1 28
Sharing Clinical Reports Project (SCRP) 0 58 0 21 7 0 0 28
Pathway Genomics 0 64 0 16 11 0 0 27
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 35 0 13 11 0 0 24
Baylor Miraca Genetics Laboratories, 0 46 0 20 1 0 2 23
CSER_CC_NCGL; University of Washington Medical Center 0 24 0 10 10 0 2 22
Fulgent Genetics 0 105 0 19 1 0 1 21
Breast Cancer Information Core (BIC) (BRCA1) 0 25 0 0 21 0 0 21
Wong Mito Lab, Molecular and Human Genetics,Baylor College of Medicine 0 21 0 8 3 0 8 19
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 30 0 15 3 0 0 18
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 47 0 14 1 0 1 16
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 37 0 15 0 0 0 15
University of Washington Department of Laboratory Medicine,University of Washington 0 27 0 10 4 0 1 15
Vantari Genetics 0 24 0 12 2 0 0 14
Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research 0 10 0 6 5 0 2 13
Mendelics 0 45 0 6 5 0 1 12
Database of Curated Mutations (DoCM) 0 3 0 8 0 0 4 12
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 0 10 0 7 0 0 4 11
Center for Human Genetics, Inc 0 15 0 2 7 0 1 10
Systems Biology Platform Zhejiang California International NanoSystems Institute 0 0 0 0 0 10 0 10
GeneKor MSA 0 45 0 8 1 0 1 10
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 26 0 9 0 0 0 9
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 9 0 6 0 2 1 9
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 21 0 8 1 0 0 9
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 0 13 0 2 5 0 1 8
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 19 0 1 5 0 0 6
SIB Swiss Institute of Bioinformatics 0 9 0 2 3 0 1 6
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 3 0 0 2 5
Department of Pathology and Molecular Medicine,Queen's University 0 8 0 3 1 0 0 4
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 2 0 0 1 3
Wellcome Centre for Mitochondrial Research,Newcastle University 0 2 0 1 0 0 2 3
Division of Human Genetics,Children's Hospital of Philadelphia 0 7 0 2 0 0 1 3
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 0 0 1 0 0 2 3
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 1 2 0 0 3
Cancer Genomic Medicine Translational Research Lab,Cleveland Clinic Genomic Medicine Institute 0 0 0 0 2 0 0 2
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 3461 5 0 0 1 0 1 2
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 1 0 0 0 1 2
RettBASE 0 0 0 1 0 0 1 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 7 0 0 1 0 1 2
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 0 0 2 0 0 2
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 2 0 0 1 0 1 2
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 0 3 0 0 2 0 0 2
ClinGen PTEN Variant Curation Expert Panel 0 2 0 0 1 0 1 2
Gharavi Laboratory,Columbia University 0 3 0 2 0 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 3 0 1 1 0 0 2
ClinGen CDH1 Variant Curation Expert Panel 0 1 0 1 1 0 0 2
Elsea Laboratory,Baylor College of Medicine 0 0 0 0 0 0 1 1
Institute of Human Genetics,Cologne University 0 0 0 0 0 0 1 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 0 5 0 1 0 0 0 1
Science for Life laboratory, Karolinska Institutet 0 0 0 0 0 0 1 1
PharmGKB 0 0 0 0 0 1 0 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 1 0 0 0 1
Department of Neurology, University Hospital of Strasbourg 0 0 0 0 0 0 1 1
Foundation Medicine, Inc. 0 0 0 0 1 0 0 1
DST/NWU Preclinical Drug Development Platform,North-West University 0 0 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 0 0 0 0 0 1 1
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 1 0 1 0 0 0 1
Leeds Amelogenesis Imperfecta Research Group,Leeds University 0 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 1 0 0 1 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 2 0 0 0 0 1 1
Department of Medical Genetics,University Hospital of North Norway 0 5 0 1 0 0 0 1
ARUP Institute,ARUP Laboratories 0 1 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 4 0 1 0 0 0 1
Endocrine oncology group,Uppsala University 0 0 0 1 0 0 0 1
Translational Research Program on Neuronal Ceroid Lipofuscinosis,Center for the Study of Inborn Errors of Metabolism 0 0 0 0 0 0 1 1
Laboratory of Molecular Neuropathology,The University of Texas Health Science Center at Houston 0 0 0 0 0 0 1 1
Cancer Diagnostics Division,Gene Solutions 0 0 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 2 0 1 0 0 0 1
Wendy Chung Laboratory,Columbia University Medical Center 0 0 0 0 0 0 1 1
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 9 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 1561
Download table as spreadsheet
HGVS dbSNP
MSH6:c.3647-51_3647-35del17 rs267607687
NM_000018.3(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617
NM_000027.3(AGA):c.281+13T>G rs34241758
NM_000027.3(AGA):c.436T>G (p.Leu146Val) rs146381591
NM_000033.3(ABCD1):c.2019C>T (p.Phe673=) rs76637913
NM_000033.3(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000033.3(ABCD1):c.874_876delGAG (p.Glu292del) rs387906496
NM_000036.2(AMPD1):c.1029G>T (p.Met343Ile) rs61752478
NM_000036.2(AMPD1):c.1323+8G>A rs140176911
NM_000036.2(AMPD1):c.133C>T (p.Gln45Ter) rs17602729
NM_000036.2(AMPD1):c.959A>T (p.Lys320Ile) rs34526199
NM_000038.5(APC):c.120G>A (p.Glu40=) rs142720069
NM_000038.5(APC):c.1229dupT (p.Leu410Phefs) rs863225308
NM_000038.5(APC):c.1240C>T (p.Arg414Cys) rs137854567
NM_000038.5(APC):c.1312+3A>G rs863225311
NM_000038.5(APC):c.136-53T>C rs2304793
NM_000038.5(APC):c.1419G>A (p.Gln473=) rs141579422
NM_000038.5(APC):c.1458T>C (p.Tyr486=) rs2229992
NM_000038.5(APC):c.1626+1G>A rs1554081934
NM_000038.5(APC):c.1635G>A (p.Ala545=) rs351771
NM_000038.5(APC):c.1695A>G (p.Glu565=) rs77921116
NM_000038.5(APC):c.1866C>A (p.Tyr622Ter) rs876658355
NM_000038.5(APC):c.1867C>T (p.Arg623Trp) rs730881238
NM_000038.5(APC):c.1892_1904delTTATTGAAAGTGGinsAAT (p.Ile631Lysfs) rs863225319
NM_000038.5(APC):c.1958+8T>C rs62626346
NM_000038.5(APC):c.1959-1G>A rs863225321
NM_000038.5(APC):c.1959G>A (p.Arg653=) rs72541809
NM_000038.5(APC):c.220+2T>A rs587781809
NM_000038.5(APC):c.221-1G>A rs863225327
NM_000038.5(APC):c.2804dupA (p.Tyr935Terfs) rs863225332
NM_000038.5(APC):c.2805C>T (p.Tyr935=) rs137854575
NM_000038.5(APC):c.295C>T (p.Arg99Trp) rs139196838
NM_000038.5(APC):c.301G>T (p.Gly101Ter) rs863225335
NM_000038.5(APC):c.3077A>C (p.Asn1026Thr) rs1114167603
NM_000038.5(APC):c.3165A>T (p.Ile1055=) rs61734287
NM_000038.5(APC):c.3264G>A (p.Lys1088=) rs114774495
NM_000038.5(APC):c.3298_3301delTCTC (p.Ser1100Hisfs) rs863225341
NM_000038.5(APC):c.3352A>G (p.Asn1118Asp) rs140493115
NM_000038.5(APC):c.3471G>A (p.Glu1157=) rs143927847
NM_000038.5(APC):c.3732A>G (p.Gln1244=) rs74380081
NM_000038.5(APC):c.3785dupA (p.Tyr1262Terfs) rs863225345
NM_000038.5(APC):c.3815C>G (p.Ser1272Ter) rs863225348
NM_000038.5(APC):c.3927_3931delAAAGA (p.Glu1309Aspfs) rs121913224
NM_000038.5(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000038.5(APC):c.4212C>A (p.Ser1404=) rs144655979
NM_000038.5(APC):c.423-16A>T rs78919815
NM_000038.5(APC):c.423-3T>A rs587782293
NM_000038.5(APC):c.423-4delA rs730881230
NM_000038.5(APC):c.4326T>A (p.Pro1442=) rs67622085
NM_000038.5(APC):c.4336G>A (p.Ala1446Thr) rs146572883
NM_000038.5(APC):c.4479G>A (p.Thr1493=) rs41115
NM_000038.5(APC):c.4666dup (p.Thr1556Asnfs) rs587783031
NM_000038.5(APC):c.475dupT (p.Tyr159Leufs) rs863225361
NM_000038.5(APC):c.5009C>T (p.Ala1670Val) rs202228932
NM_000038.5(APC):c.5034G>A (p.Gly1678=) rs42427
NM_000038.5(APC):c.5145delC (p.Asp1715Glufs) rs863225363
NM_000038.5(APC):c.524_531+4delCTGAAAATGTAA rs863225364
NM_000038.5(APC):c.5268T>G (p.Ser1756=) rs866006
NM_000038.5(APC):c.531+2T>C rs863225365
NM_000038.5(APC):c.5430T>G (p.Asp1810Glu) rs149828124
NM_000038.5(APC):c.5804dupA (p.Ser1936Valfs) rs863225367
NM_000038.5(APC):c.5880G>A (p.Pro1960=) rs465899
NM_000038.5(APC):c.645+1G>A rs863225370
NM_000038.5(APC):c.6921G>A (p.Ser2307=) rs2229993
NM_000038.5(APC):c.705A>G (p.Leu235=) rs147036141
NM_000038.5(APC):c.7201C>T (p.Leu2401=) rs2229994
NM_000038.5(APC):c.7504G>A (p.Gly2502Ser) rs2229995
NM_000038.5(APC):c.7511G>A (p.Trp2504Ter) rs755046558
NM_000038.5(APC):c.7704A>G (p.Gly2568=) rs35043160
NM_000038.5(APC):c.777G>T (p.Arg259=) rs147704593
NM_000038.5(APC):c.7862C>G (p.Ser2621Cys) rs72541816
NM_000038.5(APC):c.8199A>G (p.Gln2733=) rs372365378
NM_000038.5(APC):c.933+30A>G rs145211300
NM_000038.5(APC):c.935dupT (p.Glu313Glyfs) rs587781451
NM_000038.5(APC):c.95A>G (p.Asn32Ser) rs539108537
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552
NM_000046.3(ARSB):c.1126G>A (p.Val376Met) rs1071598
NM_000046.3(ARSB):c.1362G>A (p.Pro454=) rs35757003
NM_000046.3(ARSB):c.82C>T (p.Leu28=) rs138587718
NM_000046.3(ARSB):c.972A>G (p.Gly324=) rs72762973
NM_000046.4(ARSB):c.1072G>A (p.Val358Met) rs1065757
NM_000046.4(ARSB):c.113_121delGCGCCGGGG (p.Gly38_Gly40del) rs550086186
NM_000046.4(ARSB):c.1151G>A (p.Ser384Asn) rs25414
NM_000051.3(ATM):c.8494C>T (p.Arg2832Cys) rs587779872
NM_000053.3(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000053.3(ATP7B):c.3955C>T (p.Arg1319Ter) rs193922109
NM_000057.3(BLM):c.11T>C (p.Val4Ala) rs144706057
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.1275A>G (p.Glu425=) rs34355306
NM_000059.3(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624
NM_000059.3(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.3(BRCA2):c.1788T>C (p.Asp596=) rs11571642
NM_000059.3(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710
NM_000059.3(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479
NM_000059.3(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.3(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712
NM_000059.3(BRCA2):c.231T>G (p.Thr77=) rs114446594
NM_000059.3(BRCA2):c.2538A>C (p.Ser846=) rs11571654
NM_000059.3(BRCA2):c.2680G>A (p.Val894Ile) rs28897715
NM_000059.3(BRCA2):c.2786T>C (p.Leu929Ser) rs2227943
NM_000059.3(BRCA2):c.2944A>C (p.Ile982Leu) rs28897717
NM_000059.3(BRCA2):c.2960A>T (p.Asn987Ile) rs2227944
NM_000059.3(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944
NM_000059.3(BRCA2):c.3262C>T (p.Pro1088Ser) rs80358572
NM_000059.3(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.3(BRCA2):c.3516G>A (p.Ser1172=) rs1799952
NM_000059.3(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485
NM_000059.3(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.3(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723
NM_000059.3(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.3(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728
NM_000059.3(BRCA2):c.4686A>G (p.Gln1562=) rs28897730
NM_000059.3(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561
NM_000059.3(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415
NM_000059.3(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.3(BRCA2):c.5270_5286del17 (p.Tyr1757Serfs) rs80359502
NM_000059.3(BRCA2):c.5418A>G (p.Glu1806=) rs34351119
NM_000059.3(BRCA2):c.5554G>A (p.Val1852Ile) rs80358777
NM_000059.3(BRCA2):c.5616_5620delAGTAA (p.Lys1872Asnfs) rs80359525
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.5737T>C (p.Cys1913Arg) rs80358799
NM_000059.3(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
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.6322C>T (p.Arg2108Cys) rs55794205
NM_000059.3(BRCA2):c.6323G>A (p.Arg2108His) rs35029074
NM_000059.3(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659
NM_000059.3(BRCA2):c.658_659delGT (p.Val220Ilefs) rs80359604
NM_000059.3(BRCA2):c.6739A>G (p.Ser2247Gly) rs80358896
NM_000059.3(BRCA2):c.68-7T>A rs81002830
NM_000059.3(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331
NM_000059.3(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932
NM_000059.3(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008
NM_000059.3(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.3(BRCA2):c.7397C>T (p.Ala2466Val) rs169547
NM_000059.3(BRCA2):c.7448G>A (p.Ser2483Asn) rs80358967
NM_000059.3(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707
NM_000059.3(BRCA2):c.793+6T>C rs1222477192
NM_000059.3(BRCA2):c.8061T>C (p.Val2687=) rs776992904
NM_000059.3(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.3(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749
NM_000059.3(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746
NM_000059.3(BRCA2):c.865A>C (p.Asn289His) rs766173
NM_000059.3(BRCA2):c.865A>G (p.Asn289Asp) rs766173
NM_000059.3(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047
NM_000059.3(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.3(BRCA2):c.9190G>A (p.Asp3064Asn) rs80359177
NM_000059.3(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907
NM_000059.3(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000059.3(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.3(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000061.2(BTK):c.141+11C>T rs138411530
NM_000083.2(CLCN1):c.899G>A (p.Arg300Gln) rs118066140
NM_000093.4(COL5A1):c.61C>T (p.Pro21Ser) rs548525119
NM_000108.4(DLD):c.1351C>T (p.Leu451=) rs1803921
NM_000108.4(DLD):c.249T>C (p.Val83=) rs2228664
NM_000108.4(DLD):c.34G>A (p.Ala12Thr) rs75077312
NM_000108.4(DLD):c.439-7T>C rs10263341
NM_000108.4(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000108.4(DLD):c.684+7G>A rs75123588
NM_000108.4(DLD):c.777A>G (p.Lys259=) rs1065762
NM_000126.3(ETFA):c.186+7A>G rs184587113
NM_000126.3(ETFA):c.512C>T (p.Thr171Ile) rs1801591
NM_000143.3(FH):c.6C>T (p.Tyr2=) rs199971078
NM_000144.4(FXN):c.226A>G (p.Met76Val) rs59907886
NM_000144.4(FXN):c.54A>G (p.Pro18=) rs2481598
NM_000147.4(FUCA1):c.-12T>C rs2070954
NM_000147.4(FUCA1):c.1148C>T (p.Thr383Ile) rs114490852
NM_000147.4(FUCA1):c.29C>G (p.Pro10Arg) rs2070956
NM_000147.4(FUCA1):c.437C>T (p.Pro146Leu) rs2228424
NM_000147.4(FUCA1):c.7G>C (p.Ala3Pro) rs61996282
NM_000151.3(G6PC):c.*3G>A rs191399793
NM_000151.3(G6PC):c.432G>A (p.Pro144=) rs161628
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.3(GAA):c.525delT (p.Glu176Argfs) rs386834235
NM_000152.4(GAA):c.*223C>T rs8132
NM_000152.4(GAA):c.*3G>A rs1800317
NM_000152.4(GAA):c.-32-13T>G rs386834236
NM_000152.4(GAA):c.1327-18A>G rs2278619
NM_000152.4(GAA):c.1374C>T (p.Tyr458=) rs1800305
NM_000152.4(GAA):c.1581G>A (p.Arg527=) rs1042396
NM_000152.4(GAA):c.1754+12G>A rs2304840
NM_000152.4(GAA):c.1888+10_1888+11insC rs748036956
NM_000152.4(GAA):c.1920T>G (p.Pro640=) rs144090460
NM_000152.4(GAA):c.2133A>G (p.Thr711=) rs1800310
NM_000152.4(GAA):c.2152G>A (p.Val718Ile) rs141017311
NM_000152.4(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.4(GAA):c.2331+24T>C rs2304831
NM_000152.4(GAA):c.2400C>T (p.Ser800=) rs115705591
NM_000152.4(GAA):c.2446G>A (p.Val816Ile) rs1800314
NM_000152.4(GAA):c.2481+16G>A rs41292408
NM_000152.4(GAA):c.2580C>T (p.Asp860=) rs61736894
NM_000152.4(GAA):c.2780C>T (p.Thr927Ile) rs1800315
NM_000152.4(GAA):c.546+18G>A rs190153982
NM_000152.4(GAA):c.642C>T (p.Ser214=) rs1800301
NM_000152.4(GAA):c.668G>A (p.Arg223His) rs1042395
NM_000152.4(GAA):c.726G>A (p.Ala242=) rs148578399
NM_000152.4(GAA):c.858+8G>A rs5822325
NM_000152.4(GAA):c.921A>T (p.Ala307=) rs1800303
NM_000153.3(GALC):c.1072C>T (p.Leu358=) rs74073730
NM_000153.3(GALC):c.1162-4delT rs11300320
NM_000153.3(GALC):c.1302C>T (p.Ser434=) rs3213918
NM_000153.3(GALC):c.330C>T (p.Asp110=) rs11552556
NM_000153.3(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000153.3(GALC):c.42G>C (p.Ala14=) rs112992946
NM_000153.3(GALC):c.61G>C (p.Ala21Pro) rs111887056
NM_000153.3(GALC):c.742G>A (p.Asp248Asn) rs34362748
NM_000153.3(GALC):c.75C>A (p.Gly25=) rs111976362
NM_000156.5(GAMT):c.571-6G>A rs2074899
NM_000156.5(GAMT):c.626C>T (p.Thr209Met) rs17851582
NM_000157.3(GBA):c.1223C>T (p.Thr408Met) rs75548401
NM_000157.3(GBA):c.1342G>C (p.Asp448His) rs1064651
NM_000157.3(GBA):c.1448T>C rs421016
NM_000158.3(GBE1):c.143+10G>T rs9820490
NM_000158.3(GBE1):c.1519A>G (p.Thr507Ala) rs2228389
NM_000158.3(GBE1):c.1716C>T (p.Asp572=) rs2229520
NM_000158.3(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000159.3(GCDH):c.1143C>T (p.Ile381=) rs142553521
NM_000163.4(GHR):c.535C>T (p.Arg179Cys) rs121909362
NM_000163.4(GHR):c.686G>A (p.Arg229His) rs6177
NM_000169.2(GLA):c.-105A>G rs3027583
NM_000169.2(GLA):c.-12G>A rs3027585
NM_000179.2(MSH6):c.*85T>A rs2020906
NM_000179.2(MSH6):c.-8C>T rs565211544
NM_000179.2(MSH6):c.10C>T (p.Gln4Ter) rs786201042
NM_000179.2(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.2(MSH6):c.1135_1139delAGAGA (p.Arg379Terfs) rs267608077
NM_000179.2(MSH6):c.1164C>T (p.His388=) rs55708305
NM_000179.2(MSH6):c.1168_1170delGATinsAA (p.Asp390Asnfs) rs863225398
NM_000179.2(MSH6):c.116G>A (p.Gly39Glu) rs1042821
NM_000179.2(MSH6):c.1186C>G (p.Leu396Val) rs2020908
NM_000179.2(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.2(MSH6):c.1352delT (p.Phe451Serfs) rs869312769
NM_000179.2(MSH6):c.1449G>T (p.Val483=) rs35590297
NM_000179.2(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.2(MSH6):c.1508C>G (p.Ser503Cys) rs63750897
NM_000179.2(MSH6):c.1526T>C (p.Val509Ala) rs63751005
NM_000179.2(MSH6):c.1634_1635delAA (p.Lys545Argfs) rs267608064
NM_000179.2(MSH6):c.186C>A (p.Arg62=) rs1042820
NM_000179.2(MSH6):c.1883G>A (p.Trp628Ter) rs863225401
NM_000179.2(MSH6):c.2057G>A (p.Gly686Asp) rs587779227
NM_000179.2(MSH6):c.2061T>A (p.Cys687Ter) rs267608068
NM_000179.2(MSH6):c.2187C>A (p.Ala729=) rs375610656
NM_000179.2(MSH6):c.2239C>T (p.Leu747=) rs63751305
NM_000179.2(MSH6):c.2253T>C (p.Asn751=) rs2020913
NM_000179.2(MSH6):c.2272C>T (p.Leu758=) rs56371757
NM_000179.2(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.2(MSH6):c.2398G>C (p.Val800Leu) rs61748083
NM_000179.2(MSH6):c.260+22C>G rs55927047
NM_000179.2(MSH6):c.261-1G>C rs863225402
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.2805_2806delTG (p.Asp936Leufs) rs863225403
NM_000179.2(MSH6):c.2904C>G (p.Val968=) rs150683226
NM_000179.2(MSH6):c.2932C>T (p.Gln978Ter) rs587781372
NM_000179.2(MSH6):c.3037_3041delAAGAA (p.Lys1013Valfs) rs587782712
NM_000179.2(MSH6):c.3108_3109delGT (p.Phe1037Leufs) rs1553414519
NM_000179.2(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075
NM_000179.2(MSH6):c.3172+171C>T rs3136337
NM_000179.2(MSH6):c.3172G>C (p.Asp1058His) rs863225404
NM_000179.2(MSH6):c.3173-101G>C rs2072447
NM_000179.2(MSH6):c.3173-1G>C rs397515875
NM_000179.2(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875
NM_000179.2(MSH6):c.3238_3239delCT (p.Leu1080Valfs) rs863225406
NM_000179.2(MSH6):c.3246G>A (p.Pro1082=) rs3136351
NM_000179.2(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.2(MSH6):c.3261dupC (p.Phe1088Leufs) rs267608078
NM_000179.2(MSH6):c.3306T>A (p.Thr1102=) rs2020910
NM_000179.2(MSH6):c.3384T>C (p.Tyr1128=) rs544518097
NM_000179.2(MSH6):c.3438+14A>T rs2020911
NM_000179.2(MSH6):c.3439-16C>T rs192614006
NM_000179.2(MSH6):c.3439-2A>G rs267608098
NM_000179.2(MSH6):c.3476dupA (p.Tyr1159Terfs) rs587782111
NM_000179.2(MSH6):c.3477C>A (p.Tyr1159Ter) rs398123231
NM_000179.2(MSH6):c.3478G>A (p.Val1160Ile) rs376799914
NM_000179.2(MSH6):c.3488A>T (p.Glu1163Val) rs63750252
NM_000179.2(MSH6):c.3528_3532delACTTG (p.Leu1177Cysfs) rs863225408
NM_000179.2(MSH6):c.3557-40T>A rs189436849
NM_000179.2(MSH6):c.3557-4delT rs267608102
NM_000179.2(MSH6):c.3557-4dupT rs267608102
NM_000179.2(MSH6):c.3646+35_3646+38delATCT rs1805181
NM_000179.2(MSH6):c.3646+91T>C rs3136359
NM_000179.2(MSH6):c.3647-51_3647-35dup rs267607687
NM_000179.2(MSH6):c.3699_3702dupAGAA (p.Leu1235Argfs) rs193922343
NM_000179.2(MSH6):c.3716_3717delTA (p.Ile1239Lysfs) rs1064794384
NM_000179.2(MSH6):c.3744_3773del30 (p.His1248_Ser1257del) rs863225412
NM_000179.2(MSH6):c.3799_3800delAT (p.Met1267Glyfs) rs267608114
NM_000179.2(MSH6):c.3801+17T>C rs3136365
NM_000179.2(MSH6):c.3802-40C>G rs3136367
NM_000179.2(MSH6):c.3802-43dupT rs34154602
NM_000179.2(MSH6):c.3911G>A (p.Arg1304Lys) rs34625968
NM_000179.2(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278
NM_000179.2(MSH6):c.3980_3983dupATCA (p.Leu1330Valfs) rs1553333738
NM_000179.2(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.2(MSH6):c.3999dupT (p.Arg1334Serfs) rs863225418
NM_000179.2(MSH6):c.4001+2_4001+5delTAAC rs267608132
NM_000179.2(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.2(MSH6):c.4002-10delT rs59056100
NM_000179.2(MSH6):c.4028C>G (p.Ser1343Ter) rs863225420
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.59C>T (p.Ala20Val) rs63750664
NM_000179.2(MSH6):c.628-56C>T rs1800936
NM_000179.2(MSH6):c.642C>T (p.Tyr214=) rs1800937
NM_000179.2(MSH6):c.643G>A (p.Val215Ile) rs145959653
NM_000179.2(MSH6):c.660A>C (p.Glu220Asp) rs1800938
NM_000179.2(MSH6):c.663A>C (p.Glu221Asp) rs41557217
NM_000179.2(MSH6):c.892C>T (p.Arg298Ter) rs146816935
NM_000181.3(GUSB):c.-12G>A rs2279903
NM_000181.3(GUSB):c.162C>T (p.Asn54=) rs74975849
NM_000181.3(GUSB):c.1740C>T (p.Tyr580=) rs1061361
NM_000199.3(SGSH):c.1081G>A (p.Val361Ile) rs9894254
NM_000199.3(SGSH):c.1116G>A (p.Met372Ile) rs58786455
NM_000199.3(SGSH):c.1139A>G (p.Gln380Arg) rs144143780
NM_000199.3(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000199.3(SGSH):c.746-4A>G rs7218267
NM_000199.4(SGSH):c.1182G>T (p.Met394Ile) rs34297805
NM_000202.7(IDS):c.104A>G (p.Asp35Gly) rs144081417
NM_000202.7(IDS):c.925A>G (p.Thr309Ala) rs145807417
NM_000203.4(IDUA):c.1081G>A (p.Ala361Thr) rs6831280
NM_000203.4(IDUA):c.1174C>T (p.Leu392=) rs201682298
NM_000203.4(IDUA):c.1230C>G (p.Thr410=) rs115790973
NM_000203.4(IDUA):c.1479C>A (p.Pro493=) rs370394527
NM_000203.4(IDUA):c.235G>A (p.Ala79Thr) rs58037052
NM_000203.4(IDUA):c.299+6C>T rs147498923
NM_000203.4(IDUA):c.314G>A (p.Arg105Gln) rs3755955
NM_000203.4(IDUA):c.352C>T (p.Leu118=) rs3755954
NM_000203.4(IDUA):c.667G>A (p.Asp223Asn) rs183347428
NM_000203.4(IDUA):c.891C>T (p.Asn297=) rs114806891
NM_000235.3(LIPA):c.1113A>G (p.Glu371=) rs116827211
NM_000235.3(LIPA):c.67G>A (p.Gly23Arg) rs1051339
NM_000235.3(LIPA):c.756A>C (p.Ile252=) rs145037134
NM_000249.3(MLH1):c.*35_*37delCTT rs193922366
NM_000249.3(MLH1):c.-27C>A rs587779001
NM_000249.3(MLH1):c.-28A>G rs56198082
NM_000249.3(MLH1):c.-7C>T rs104894994
NM_000249.3(MLH1):c.1039-78A>G rs11129748
NM_000249.3(MLH1):c.1039-8T>A rs193922367
NM_000249.3(MLH1):c.1039-8del rs57509953
NM_000249.3(MLH1):c.116+5G>A rs267607710
NM_000249.3(MLH1):c.116G>A (p.Cys39Tyr) rs63751701
NM_000249.3(MLH1):c.1217G>A (p.Ser406Asn) rs41294980
NM_000249.3(MLH1):c.1321G>A (p.Ala441Thr) rs63750365
NM_000249.3(MLH1):c.1558+14G>A rs41562513
NM_000249.3(MLH1):c.156delA (p.Glu53Argfs) rs63750028
NM_000249.3(MLH1):c.1668-19A>G rs9876116
NM_000249.3(MLH1):c.1732-19T>A rs77120160
NM_000249.3(MLH1):c.1820T>A (p.Leu607His) rs41295284
NM_000249.3(MLH1):c.1852A>G (p.Lys618Glu) rs35001569
NM_000249.3(MLH1):c.1852_1853delAAinsGC (p.Lys618Ala) rs35502531
NM_000249.3(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.3(MLH1):c.1913_1926dupGATTACCCCTTCTG (p.Ile643Aspfs) rs587778958
NM_000249.3(MLH1):c.1959G>T (p.Leu653=) rs1800146
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000249.3(MLH1):c.198C>T (p.Thr66=) rs61751642
NM_000249.3(MLH1):c.1990-121C>T rs2241031
NM_000249.3(MLH1):c.1990-2A>G rs267607883
NM_000249.3(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.3(MLH1):c.207+1G>A rs267607718
NM_000249.3(MLH1):c.2146G>A (p.Val716Met) rs35831931
NM_000249.3(MLH1):c.2152C>T (p.His718Tyr) rs2020873
NM_000249.3(MLH1):c.2252_2253delAA (p.Lys751Serfs) rs267607901
NM_000249.3(MLH1):c.2266_2269dupTGTT (p.Ter757Leufs) rs267607892
NM_000249.3(MLH1):c.277A>G (p.Ser93Gly) rs41295282
NM_000249.3(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.3(MLH1):c.307-29C>A rs139620056
NM_000249.3(MLH1):c.350C>G (p.Thr117Arg) rs63750781
NM_000249.3(MLH1):c.375A>G (p.Ala125=) rs1800144
NM_000249.3(MLH1):c.394G>C (p.Asp132His) rs28930073
NM_000249.3(MLH1):c.453+25A>G rs4647246
NM_000249.3(MLH1):c.453+79A>G rs4234259
NM_000249.3(MLH1):c.454-51T>C rs4647255
NM_000249.3(MLH1):c.474C>T (p.Asn158=) rs4647256
NM_000249.3(MLH1):c.583A>T (p.Lys195Ter) rs863225383
NM_000249.3(MLH1):c.588+11G>C rs4647258
NM_000249.3(MLH1):c.589-15C>T rs55658850
NM_000249.3(MLH1):c.637G>A (p.Val213Met) rs2308317
NM_000249.3(MLH1):c.655A>G (p.Ile219Val) rs1799977
NM_000249.3(MLH1):c.702G>A (p.Glu234=) rs35908749
NM_000249.3(MLH1):c.790+10A>G rs182733777
NM_000249.3(MLH1):c.793C>A (p.Arg265Ser) rs63751194
NM_000249.3(MLH1):c.843A>C (p.Ala281=) rs146796765
NM_000249.3(MLH1):c.85G>T (p.Ala29Ser) rs63750656
NM_000249.3(MLH1):c.977T>C (p.Val326Ala) rs63751049
NM_000251.2(MSH2):c.1077-10T>C rs17224360
NM_000251.2(MSH2):c.1237C>T (p.Gln413Ter) rs863225387
NM_000251.2(MSH2):c.1251_1268del18insAGTT (p.Ile418Valfs) rs863225388
NM_000251.2(MSH2):c.1275A>G (p.Glu425=) rs63751650
NM_000251.2(MSH2):c.1276+2T>C rs267607953
NM_000251.2(MSH2):c.1277-16T>C rs368653974
NM_000251.2(MSH2):c.1277-8T>C rs145400590
NM_000251.2(MSH2):c.1387-8G>T rs187525243
NM_000251.2(MSH2):c.1481C>G (p.Ser494Ter) rs370970617
NM_000251.2(MSH2):c.1511-91G>T rs3732182
NM_000251.2(MSH2):c.1511-9A>T rs12998837
NM_000251.2(MSH2):c.1661+12G>A rs3732183
NM_000251.2(MSH2):c.1661+90T>C rs10183143
NM_000251.2(MSH2):c.1662-9G>A rs17218356
NM_000251.2(MSH2):c.1666T>C (p.Leu556=) rs61756466
NM_000251.2(MSH2):c.1737A>G (p.Lys579=) rs61756467
NM_000251.2(MSH2):c.1760-62G>A rs17218439
NM_000251.2(MSH2):c.1862G>T (p.Arg621Leu) rs759263820
NM_000251.2(MSH2):c.1886A>G (p.Gln629Arg) rs61756468
NM_000251.2(MSH2):c.1911delC (p.Arg638Glyfs) rs63750893
NM_000251.2(MSH2):c.1915C>T (p.His639Tyr) rs28929484
NM_000251.2(MSH2):c.1982_1985delAACA (p.Lys661Argfs) rs587779120
NM_000251.2(MSH2):c.2005+2dupT rs541623924
NM_000251.2(MSH2):c.2005+3_2005+14del12 rs587779125
NM_000251.2(MSH2):c.2006-4G>A rs369853630
NM_000251.2(MSH2):c.2006-6T>C rs2303428
NM_000251.2(MSH2):c.2006G>T (p.Gly669Val) rs63751640
NM_000251.2(MSH2):c.2047G>A (p.Gly683Arg) rs267607995
NM_000251.2(MSH2):c.20delA (p.Glu7Glyfs) rs267607915
NM_000251.2(MSH2):c.211+9C>G rs2303426
NM_000251.2(MSH2):c.212-1G>A rs267607914
NM_000251.2(MSH2):c.212-4dup rs746333570
NM_000251.2(MSH2):c.2205C>T (p.Ile735=) rs533553381
NM_000251.2(MSH2):c.2295_2296insTA (p.Ile766Terfs) rs863225393
NM_000251.2(MSH2):c.2300C>G (p.Ser767Ter) rs863225395
NM_000251.2(MSH2):c.23C>T (p.Thr8Met) rs17217716
NM_000251.2(MSH2):c.2458+8C>G rs189025757
NM_000251.2(MSH2):c.2502_2508delTAATTTC (p.Asn835Leufs) rs63751447
NM_000251.2(MSH2):c.2576_2584delAATCGCAAG (p.Glu859_Gln861del) rs587781278
NM_000251.2(MSH2):c.2766T>C (p.Phe922=) rs55859129
NM_000251.2(MSH2):c.2802G>A (p.Thr934=) rs150259097
NM_000251.2(MSH2):c.317G>A (p.Arg106Lys) rs41295286
NM_000251.2(MSH2):c.339G>A (p.Lys113=) rs35898375
NM_000251.2(MSH2):c.380A>G (p.Asn127Ser) rs17217772
NM_000251.2(MSH2):c.409G>C (p.Gly137Arg) rs587781795
NM_000251.2(MSH2):c.471C>A (p.Gly157=) rs61756463
NM_000251.2(MSH2):c.4G>A (p.Ala2Thr) rs63750466
NM_000251.2(MSH2):c.528_529delTG (p.Cys176Terfs) rs587779164
NM_000251.2(MSH2):c.557A>G (p.Asn186Ser) rs151129360
NM_000251.2(MSH2):c.573C>T (p.Leu191=) rs1800151
NM_000251.2(MSH2):c.793-1G>A rs863225397
NM_000251.2(MSH2):c.871delC (p.Leu291Terfs) rs1064794809
NM_000251.2(MSH2):c.965G>A (p.Gly322Asp) rs4987188
NM_000251.2(MSH2):c.984C>T (p.Ala328=) rs4987189
NM_000262.2(NAGA):c.*12A>C rs2229547
NM_000262.2(NAGA):c.957+4C>G rs55715427
NM_000262.2(NAGA):c.973G>A (p.Glu325Lys) rs121434529
NM_000263.3(NAGLU):c.1119G>T (p.Val373=) rs371656965
NM_000263.3(NAGLU):c.1515C>T (p.Ser505=) rs112751577
NM_000263.3(NAGLU):c.2209C>A (p.Arg737Ser) rs86312
NM_000263.3(NAGLU):c.421T>A (p.Ser141Thr) rs61737294
NM_000263.3(NAGLU):c.764+19C>G rs77738617
NM_000271.4(NPC1):c.1503C>T (p.Asp501=) rs116046557
NM_000271.4(NPC1):c.1926G>C (p.Met642Ile) rs1788799
NM_000271.4(NPC1):c.1947+10G>C rs71534236
NM_000271.4(NPC1):c.2073G>A (p.Pro691=) rs113013085
NM_000271.4(NPC1):c.2103C>T (p.Asn701=) rs7227375
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.3281T>C (p.Ile1094Thr) rs1338658857
NM_000271.4(NPC1):c.3331C>T (p.Leu1111=) rs151125564
NM_000271.4(NPC1):c.3450C>T (p.Asn1150=) rs34715591
NM_000271.4(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.4(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744
NM_000271.4(NPC1):c.3797G>A (p.Arg1266Gln) rs1805084
NM_000271.4(NPC1):c.387T>C (p.Tyr129=) rs12970899
NM_000271.4(NPC1):c.540C>T (p.Asp180=) rs143656971
NM_000271.4(NPC1):c.644A>G (p.His215Arg) rs1805081
NM_000271.4(NPC1):c.66A>G (p.Ser22=) rs144415945
NM_000271.4(NPC1):c.709C>T (p.Pro237Ser) rs80358251
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786
NM_000284.3(PDHA1):c.795A>G (p.Ala265=) rs1126565
NM_000287.3(PEX6):c.1234-7_1234-6dupTT rs200121485
NM_000287.3(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000287.3(PEX6):c.210G>A (p.Gly70=) rs398123304
NM_000287.3(PEX6):c.2364G>A (p.Val788=) rs2274515
NM_000287.3(PEX6):c.2426C>T (p.Ala809Val) rs35830695
NM_000287.3(PEX6):c.330C>G (p.Thr110=) rs140486558
NM_000288.3(PEX7):c.748-5delT rs563675060
NM_000289.5(PFKM):c.1342-14G>T rs56117548
NM_000289.5(PFKM):c.246G>A (p.Thr82=) rs2228501
NM_000289.5(PFKM):c.747+24T>G rs149600978
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507
NM_000290.3(PGAM2):c.216C>T (p.Asp72=) rs111656877
NM_000290.3(PGAM2):c.233G>A (p.Trp78Ter) rs10250779
NM_000290.3(PGAM2):c.341T>G (p.Ile114Ser) rs61756062
NM_000290.3(PGAM2):c.366G>A (p.Pro122=) rs143830182
NM_000290.3(PGAM2):c.375G>A (p.Pro125=) rs145985559
NM_000292.2(PHKA2):c.112G>C (p.Glu38Gln) rs17313469
NM_000292.2(PHKA2):c.1246G>A (p.Gly416Arg) rs16980929
NM_000292.2(PHKA2):c.2077A>G (p.Ile693Val) rs143732206
NM_000292.2(PHKA2):c.3282+13G>A rs200925279
NM_000293.2(PHKB):c.2459A>T (p.Glu820Val) rs9934849
NM_000293.2(PHKB):c.3121C>T (p.Arg1041Trp) rs12918964
NM_000293.2(PHKB):c.400G>A (p.Asp134Asn) rs144486825
NM_000293.2(PHKB):c.574A>G (p.Ile192Val) rs117218785
NM_000303.2(PMM2):c.368G>A (p.Arg123Gln) rs141498002
NM_000303.2(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000308.3(CTSA):c.1407G>A (p.Thr469=) rs25649
NM_000308.3(CTSA):c.159C>T (p.Ile53=) rs150140984
NM_000308.3(CTSA):c.273C>G (p.Pro91=) rs742035
NM_000310.3(PPT1):c.*6G>A rs113082671
NM_000310.3(PPT1):c.363-18C>G rs143235344
NM_000310.3(PPT1):c.363-4G>A rs117284255
NM_000310.3(PPT1):c.401T>C (p.Ile134Thr) rs1800205
NM_000310.3(PPT1):c.799-19A>C rs367820578
NM_000310.3(PPT1):c.837G>C (p.Gln279His) rs72937434
NM_000314.4(PTEN):c.39_40delAA (p.Arg14Glufs) rs587776671
NM_000314.6(PTEN):c.-1027C>A rs587781128
NM_000314.6(PTEN):c.-121A>G rs886047395
NM_000314.6(PTEN):c.-533_-531dup rs34413673
NM_000314.6(PTEN):c.-837C>T rs786201900
NM_000314.6(PTEN):c.132C>T (p.Gly44=) rs150651961
NM_000314.6(PTEN):c.254-30dupT rs77494260
NM_000314.6(PTEN):c.309delC (p.Cys105Valfs) rs1554898088
NM_000314.6(PTEN):c.323T>C (p.Leu108Pro) rs1064793243
NM_000314.6(PTEN):c.388C>T (p.Arg130Ter) rs121909224
NM_000314.6(PTEN):c.518G>A (p.Arg173His) rs121913294
NM_000314.6(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.6(PTEN):c.802-3delT rs34003473
NM_000314.6(PTEN):c.802-51_802-14del38 rs557364463
NM_000314.7(PTEN):c.-1142C>T rs563841270
NM_000318.2(PEX2):c.24G>A (p.Ala8=) rs9298285
NM_000318.2(PEX2):c.91C>G (p.Gln31Glu) rs149287302
NM_000340.1(SLC2A2):c.1437C>T (p.Phe479=) rs5398
NM_000340.1(SLC2A2):c.329C>T (p.Thr110Ile) rs5400
NM_000340.1(SLC2A2):c.594G>A (p.Thr198=) rs5404
NM_000382.2(ALDH3A2):c.1270C>T (p.Pro424Ser) rs61737992
NM_000382.2(ALDH3A2):c.1297_1298delGA (p.Glu433Argfs) rs387906256
NM_000382.2(ALDH3A2):c.1307_1311dupACAAA (p.Leu438Thrfs) rs387906257
NM_000382.2(ALDH3A2):c.386-6A>G rs117330764
NM_000391.3(TPP1):c.1044C>T (p.Ala348=) rs35706972
NM_000391.3(TPP1):c.1076-18A>G rs78676565
NM_000391.3(TPP1):c.1266+5G>A rs1800753
NM_000391.3(TPP1):c.1494C>T (p.Pro498=) rs117942457
NM_000391.3(TPP1):c.1542A>T (p.Gly514=) rs1128396
NM_000391.3(TPP1):c.299A>G (p.Gln100Arg) rs1800746
NM_000391.3(TPP1):c.381-10dupT rs146315473
NM_000391.3(TPP1):c.441A>G (p.Glu147=) rs2555170
NM_000391.3(TPP1):c.509-1G>C rs56144125
NM_000391.3(TPP1):c.887-6delA rs35039601
NM_000396.3(CTSK):c.675A>G (p.Arg225=) rs41271965
NM_000404.2(GLB1):c.464T>G (p.Leu155Arg) rs376710410
NM_000404.3(GLB1):c.1233+8T>C rs13093698
NM_000404.3(GLB1):c.1285C>T (p.Pro429Ser) rs180869784
NM_000404.3(GLB1):c.171C>G (p.Tyr57Ter) rs398123350
NM_000404.3(GLB1):c.29C>T (p.Pro10Leu) rs7637099
NM_000404.3(GLB1):c.325C>T (p.Arg109Trp) rs35289681
NM_000404.3(GLB1):c.34T>C (p.Leu12=) rs7614776
NM_000404.3(GLB1):c.458-11T>C rs34204221
NM_000404.3(GLB1):c.792+10G>T rs79518579
NM_000405.4(GM2A):c.458T>C (p.Val153Ala) rs61740602
NM_000405.4(GM2A):c.55G>A (p.Ala19Thr) rs1048719
NM_000414.3(HSD17B4):c.*6A>G rs111671384
NM_000414.3(HSD17B4):c.1767+8T>C rs190659146
NM_000414.3(HSD17B4):c.1791C>T (p.Val597=) rs2560722
NM_000414.3(HSD17B4):c.2182A>G (p.Met728Val) rs28943594
NM_000414.3(HSD17B4):c.2199C>T (p.Tyr733=) rs12714
NM_000414.3(HSD17B4):c.875C>G (p.Thr292Ser) rs1143650
NM_000426.3(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184
NM_000426.3(LAMA2):c.922G>A (p.Glu308Lys) rs146462599
NM_000434.3(NEU1):c.263G>C (p.Gly88Ala) rs34712643
NM_000434.3(NEU1):c.486C>T (p.Ala162=) rs115588976
NM_000434.3(NEU1):c.649G>A (p.Val217Met) rs28940583
NM_000436.3(OXCT1):c.173C>T (p.Thr58Met) rs75134564
NM_000436.3(OXCT1):c.480G>T (p.Gly160=) rs78432029
NM_000436.3(OXCT1):c.733-3T>C rs77000151
NM_000455.4(STK11):c.*8C>T rs587782259
NM_000455.4(STK11):c.1062C>G (p.Phe354Leu) rs59912467
NM_000455.4(STK11):c.1225C>T (p.Arg409Trp) rs368466538
NM_000455.4(STK11):c.159_170delCCTGCTGGGGGA (p.Asp53_Gly56del) rs1131690953
NM_000455.4(STK11):c.464+9G>A rs376313955
NM_000455.4(STK11):c.734+20G>A rs375315233
NM_000455.4(STK11):c.816C>T (p.Tyr272=) rs9282859
NM_000455.4(STK11):c.945G>A (p.Pro315=) rs376329042
NM_000455.4(STK11):c.970C>G (p.Pro324Ala) rs549474196
NM_000466.2(PEX1):c.1579A>G (p.Thr527Ala) rs144942544
NM_000466.2(PEX1):c.2271G>C (p.Leu757Phe) rs142838522
NM_000466.2(PEX1):c.2331C>A (p.Gly777=) rs10278857
NM_000466.2(PEX1):c.473-3C>T rs150576000
NM_000466.2:c.1743_1796del rs1554372756
NM_000487.5(ARSA):c.1002C>T (p.Ser334=) rs147027229
NM_000487.5(ARSA):c.1010A>T (p.Asp337Val) rs74315475
NM_000487.5(ARSA):c.1149C>T (p.Asp383=) rs6151425
NM_000487.5(ARSA):c.1178C>G (p.Thr393Ser) rs743616
NM_000487.5(ARSA):c.1493G>A (p.Arg498His) rs6151428
NM_000487.5(ARSA):c.243C>T (p.Gly81=) rs6151410
NM_000487.5(ARSA):c.459C>T (p.His153=) rs6151412
NM_000487.5(ARSA):c.465+1G>A rs80338815
NM_000487.5(ARSA):c.585G>T (p.Trp195Cys) rs6151415
NM_000492.3(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000512.4(GALNS):c.*3C>G rs77826920
NM_000512.4(GALNS):c.1002+17C>T rs78494153
NM_000512.4(GALNS):c.1177G>T (p.Ala393Ser) rs2303269
NM_000512.4(GALNS):c.1278G>T (p.Gly426=) rs76651187
NM_000512.4(GALNS):c.1376C>T (p.Ala459Val) rs114703967
NM_000512.4(GALNS):c.1413C>T (p.Val471=) rs73251084
NM_000512.4(GALNS):c.1438G>T (p.Val480Phe) rs151296605
NM_000512.4(GALNS):c.318C>T (p.Asn106=) rs34278797
NM_000512.4(GALNS):c.510T>C (p.Tyr170=) rs3743544
NM_000512.4(GALNS):c.566+10C>T rs77514811
NM_000512.4(GALNS):c.599C>T (p.Thr200Met) rs7187889
NM_000512.4(GALNS):c.633+22T>C rs201579340
NM_000512.4(GALNS):c.692C>G (p.Ala231Gly) rs34745339
NM_000512.4(GALNS):c.723C>T (p.Ala241=) rs117053987
NM_000512.4(GALNS):c.775C>A (p.Arg259=) rs61742258
NM_000512.4(GALNS):c.846C>T (p.Phe282=) rs35232749
NM_000520.5(HEXA):c.-4G>A rs766510036
NM_000520.5(HEXA):c.1195A>G (p.Asn399Asp) rs1800430
NM_000520.5(HEXA):c.1306A>G (p.Ile436Val) rs1800431
NM_000520.5(HEXA):c.1518A>G (p.Glu506=) rs4777502
NM_000520.5(HEXA):c.672+30T>G rs117160567
NM_000520.5(HEXA):c.9C>T (p.Ser3=) rs1800428
NM_000521.3(HEXB):c.214C>T (p.Leu72Phe) rs147155126
NM_000521.3(HEXB):c.362A>G (p.Lys121Arg) rs11556045
NM_000521.3(HEXB):c.619A>G (p.Ile207Val) rs10805890
NM_000521.3(HEXB):c.772-4A>G rs17561000
NM_000528.3(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330
NM_000528.3(MAN2B1):c.1068C>G (p.Pro356=) rs117880912
NM_000528.3(MAN2B1):c.1238A>G (p.Asn413Ser) rs35836657
NM_000528.3(MAN2B1):c.1441G>T (p.Ala481Ser) rs34544747
NM_000528.3(MAN2B1):c.2006C>T (p.Pro669Leu) rs75029862
NM_000528.3(MAN2B1):c.2267+3G>C rs28639634
NM_000528.3(MAN2B1):c.2310C>T (p.Pro770=) rs35880640
NM_000528.3(MAN2B1):c.2562C>G (p.Ala854=) rs10410289
NM_000528.3(MAN2B1):c.2865G>C (p.Thr955=) rs148108322
NM_000528.3(MAN2B1):c.743C>T (p.Pro248Leu) rs117843968
NM_000528.3(MAN2B1):c.747C>T (p.Thr249=) rs61737536
NM_000528.3(MAN2B1):c.832C>G (p.Leu278Val) rs1054486
NM_000528.3(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_000535.6(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000535.6(PMS2):c.1408C>T (p.Pro470Ser) rs1805321
NM_000535.6(PMS2):c.1454C>A (p.Thr485Lys) rs1805323
NM_000535.6(PMS2):c.1488C>T (p.His496=) rs1805320
NM_000535.6(PMS2):c.1531A>G (p.Thr511Ala) rs2228007
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.1789A>T (p.Thr597Ser) rs1805318
NM_000535.6(PMS2):c.1831dup (p.Ile611Asnfs) rs63750250
NM_000535.6(PMS2):c.1866G>A (p.Met622Ile) rs1805324
NM_000535.6(PMS2):c.2006+6G>A rs111905775
NM_000535.6(PMS2):c.2007-4G>A rs1805326
NM_000535.6(PMS2):c.2007-7C>T rs55954143
NM_000535.6(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.6(PMS2):c.2253T>C (p.Phe751=) rs1805325
NM_000535.6(PMS2):c.2324A>G (p.Asn775Ser) rs17420802
NM_000535.6(PMS2):c.2340C>T (p.Pro780=) rs142230276
NM_000535.6(PMS2):c.2466T>C (p.Leu822=) rs10000
NM_000535.6(PMS2):c.251-2A>T rs587779340
NM_000535.6(PMS2):c.2570G>C (p.Gly857Ala) rs1802683
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.780C>G (p.Ser260=) rs1805319
NM_000543.4(SMPD1):c.1071C>T (p.Ala357=) rs72896268
NM_000543.4(SMPD1):c.138_143delGCTGGC (p.Ala48_Leu49del) rs3838786
NM_000543.4(SMPD1):c.1460C>T (p.Ala487Val) rs141641266
NM_000543.4(SMPD1):c.1522G>A (p.Gly508Arg) rs1050239
NM_000543.4(SMPD1):c.1561C>T (p.Leu521=) rs147258619
NM_000543.4(SMPD1):c.1589G>C (p.Gly530Ala) rs35122256
NM_000543.4(SMPD1):c.1749G>A (p.Ser583=) rs35098198
NM_000543.4(SMPD1):c.636T>C (p.Asp212=) rs7951904
NM_000543.4(SMPD1):c.714A>G (p.Ala238=) rs2682091
NM_000543.4(SMPD1):c.719G>A (p.Arg240Gln) rs2634197
NM_000543.4(SMPD1):c.872G>A (p.Arg291His) rs1803161
NM_000543.4(SMPD1):c.901G>A (p.Val301Ile) rs2723669
NM_000546.5(TP53):c.1014C>T (p.Phe338=) rs150293825
NM_000546.5(TP53):c.108G>A (p.Pro36=) rs1800370
NM_000546.5(TP53):c.139C>T (p.Pro47Ser) rs1800371
NM_000546.5(TP53):c.18A>C (p.Ser6=) rs573130482
NM_000546.5(TP53):c.215C>G (p.Pro72Arg) rs1042522
NM_000546.5(TP53):c.448_460delACACCCCCGCCCG (p.Thr150Alafs) rs1064792930
NM_000546.5(TP53):c.473G>A (p.Arg158His) rs587782144
NM_000546.5(TP53):c.518T>A (p.Val173Glu) rs1057519747
NM_000546.5(TP53):c.524G>A (p.Arg175His) rs28934578
NM_000546.5(TP53):c.530C>G (p.Pro177Arg) rs751477326
NM_000546.5(TP53):c.560-1G>C rs1202793339
NM_000546.5(TP53):c.639A>G (p.Arg213=) rs1800372
NM_000546.5(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.5(TP53):c.695T>C (p.Ile232Thr) rs587781589
NM_000546.5(TP53):c.711G>A (p.Met237Ile) rs587782664
NM_000546.5(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_000546.5(TP53):c.74+38C>G rs1642785
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.745A>G (p.Arg249Gly) rs587782082
NM_000546.5(TP53):c.772G>A (p.Glu258Lys) rs121912652
NM_000546.5(TP53):c.817C>T (p.Arg273Cys) rs121913343
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.836G>A (p.Gly279Glu) rs1064793881
NM_000546.5(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_000546.5(TP53):c.891C>T (p.His297=) rs750578863
NM_000546.5(TP53):c.97-6C>T rs35117667
NM_000546.5(TP53):c.993+12T>C rs1800899
NM_000548.4(TSC2):c.4007C>T (p.Ser1336Leu) rs148527903
NM_000642.2(AGL):c.112A>G (p.Thr38Ala) rs35278779
NM_000642.2(AGL):c.1155G>T (p.Lys385Asn) rs28730701
NM_000642.2(AGL):c.1160G>A (p.Arg387Gln) rs17121464
NM_000642.2(AGL):c.1185+15T>C rs17121466
NM_000642.2(AGL):c.1481G>A (p.Arg494His) rs141043166
NM_000642.2(AGL):c.16C>T (p.Gln6Ter) rs113994126
NM_000642.2(AGL):c.1875G>T (p.Thr625=) rs141944878
NM_000642.2(AGL):c.207T>C (p.Asn69=) rs2230305
NM_000642.2(AGL):c.2802A>C (p.Ala934=) rs34230588
NM_000642.2(AGL):c.2883A>G (p.Arg961=) rs113625417
NM_000642.2(AGL):c.3199C>T (p.Pro1067Ser) rs3753494
NM_000642.2(AGL):c.3260-19G>A rs140333425
NM_000642.2(AGL):c.3260-20T>C rs17121560
NM_000642.2(AGL):c.3343G>A (p.Gly1115Arg) rs2230307
NM_000642.2(AGL):c.3384G>A (p.Ala1128=) rs149393587
NM_000642.2(AGL):c.3849T>C (p.Ala1283=) rs28730706
NM_000642.2(AGL):c.39C>T (p.Asn13=) rs138203039
NM_000642.2(AGL):c.4162-11G>A rs184309460
NM_000642.2(AGL):c.4260-12A>G rs369973784
NM_000642.2(AGL):c.686A>G (p.Gln229Arg) rs17121403
NM_000726.4(CACNB4):c.44C>G (p.Pro15Arg) rs200662010
NM_000726.4(CACNB4):c.5C>T (p.Ser2Phe) rs200092211
NM_000920.3(PC):c.216G>A (p.Thr72=) rs117711892
NM_000920.3(PC):c.2224-9T>G rs45560936
NM_000920.3(PC):c.2580C>T (p.Asp860=) rs45584036
NM_000920.3(PC):c.2619C>T (p.Asn873=) rs2229745
NM_000920.3(PC):c.616G>T (p.Val206Leu) rs147945506
NM_000925.3(PDHB):c.132T>C (p.Asp44=) rs11542399
NM_000925.3(PDHB):c.198A>G (p.Ala66=) rs138621975
NM_000925.3(PDHB):c.438G>A (p.Gly146=) rs1126551
NM_001001937.1(ATP5F1A):c.25G>A (p.Ala9Thr) rs141639003
NM_001001937.1(ATP5F1A):c.667A>G (p.Ile223Val) rs77958705
NM_001002755.2(NFU1):c.286C>T (p.Arg96Cys) rs74637005
NM_001002755.2(NFU1):c.62+9C>T rs114846829
NM_001005741.2(GBA):c.1093G>A (p.Glu365Lys) rs2230288
NM_001005741.2(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_001005741.2(GBA):c.721G>A (p.Gly241Arg) rs409652
NM_001005741.2(GBA):c.882T>G (p.His294Gln) rs367968666
NM_001008215.2(COA5):c.*3C>G rs372867268
NM_001010867.3(IBA57):c.436C>T (p.Arg146Trp) rs73095427
NM_001031681.2(CTNS):c.462T>C (p.Ser154=) rs77453839
NM_001031681.2(CTNS):c.504G>A (p.Thr168=) rs1800528
NM_001031681.2(CTNS):c.970+15G>A rs76153698
NM_001031835.2(PHKB):c.1342+13G>T rs117536391
NM_001031835.2(PHKB):c.2223C>G (p.Leu741=) rs34717357
NM_001031835.2(PHKB):c.2288A>G (p.Tyr763Cys) rs16945474
NM_001031835.2(PHKB):c.297T>C (p.Asp99=) rs17738933
NM_001031835.2(PHKB):c.534G>T (p.Met178Ile) rs56257827
NM_001037537.1(PHYH):c.417C>T (p.Tyr139=) rs142720126
NM_001040108.1(MLH3):c.2159A>G (p.Tyr720Cys) rs28756988
NM_001040108.1(MLH3):c.2390G>A (p.Arg797His) rs28756991
NM_001040108.1(MLH3):c.2476A>G (p.Asn826Asp) rs175081
NM_001040108.1(MLH3):c.2490T>G (p.Phe830Leu) rs114015611
NM_001040108.1(MLH3):c.2531C>T (p.Pro844Leu) rs175080
NM_001040108.1(MLH3):c.2825C>T (p.Thr942Ile) rs17102999
NM_001040108.1(MLH3):c.3440A>T (p.Asn1147Ile) rs142124529
NM_001040108.1(MLH3):c.3488G>A (p.Gly1163Asp) rs28757011
NM_001040108.1(MLH3):c.3987+15C>T rs117251698
NM_001040108.1(MLH3):c.408T>C (p.Asp136=) rs61755655
NM_001040108.1(MLH3):c.4335A>G (p.Gln1445=) rs13712
NM_001040108.1(MLH3):c.4351G>A (p.Glu1451Lys) rs28939071
NM_001040108.1(MLH3):c.444G>C (p.Val148=) rs11556091
NM_001040108.1(MLH3):c.666G>A (p.Lys222=) rs28756980
NM_001040108.1(MLH3):c.691A>C (p.Lys231Gln) rs28756981
NM_001040108.1(MLH3):c.8A>G (p.Lys3Arg) rs114829239
NM_001040436.2(YARS2):c.291C>T (p.Gly97=) rs11539444
NM_001040436.2(YARS2):c.572G>T (p.Gly191Val) rs11539445
NM_001040436.2(YARS2):c.870T>C (p.Val290=) rs142067801
NM_001040436.2(YARS2):c.930G>A (p.Pro310=) rs147551647
NM_001042432.1(CLN3):c.*29A>G rs778438984
NM_001042432.1(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_001042432.1(CLN3):c.1211A>G (p.His404Arg) rs77595156
NM_001042432.1(CLN3):c.125+3G>A rs775577824
NM_001042432.1(CLN3):c.575G>A (p.Gly192Glu) rs386833733
NM_001042631.2(SDHAF1):c.333C>G (p.Arg111=) rs76336581
NM_001080449.2(DNA2):c.1058-6delT rs201474338
NM_001080449.2(DNA2):c.2430C>G (p.Phe810Leu) rs73274785
NM_001083614.1(EARS2):c.16A>G (p.Arg6Gly) rs113722817
NM_001083614.1(EARS2):c.263_264delCGinsAA (p.Ala88Glu) rs1555504721
NM_001083614.1(EARS2):c.402C>T (p.Thr134=) rs116657756
NM_001098.2(ACO2):c.192A>C (p.Thr64=) rs137831
NM_001098.2(ACO2):c.220C>G (p.Leu74Val) rs141772938
NM_001098.2(ACO2):c.670C>T (p.Leu224=) rs1799932
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_001122606.1(LAMP2):c.1093+2514G>A rs144140265
NM_001127221.1(CACNA1A):c.3043G>A (p.Glu1015Lys) rs16024
NM_001128425.1(MUTYH):c.1014G>C (p.Gln338His) rs3219489
NM_001128425.1(MUTYH):c.1014G>T (p.Gln338His) rs3219489
NM_001128425.1(MUTYH):c.1187G>A (p.Gly396Asp) rs36053993
NM_001128425.1(MUTYH):c.1449C>T (p.Thr483=) rs150269172
NM_001128425.1(MUTYH):c.1544C>T (p.Ser515Phe) rs140118273
NM_001128425.1(MUTYH):c.389-4C>A rs767717597
NM_001128425.1(MUTYH):c.64G>A (p.Val22Met) rs3219484
NM_001131025.1(PEX5):c.604G>C (p.Val202Leu) rs149102738
NM_001131025.1(PEX5):c.815T>C (p.Met272Thr) rs76708142
NM_001151.3(SLC25A4):c.567T>C (p.Ala189=) rs149101873
NM_001167734.1(VARS2):c.2383G>A (p.Val795Met) rs55865499
NM_001167734.1(VARS2):c.513G>A (p.Met171Ile) rs141408930
NM_001169109.1(SCO2):c.-14+470G>A rs377497287
NM_001172696.1(TSFM):c.57+4A>G rs587777689
NM_001195249.1(APTX):c.484-3delT rs373304582
NM_001199107.1(TBC1D24):c.493G>A (p.Gly165Ser) rs200926225
NM_001199291.2(HSD17B4):c.1285-11C>G rs779466683
NM_001199981.1(NDUFS1):c.1143A>G (p.Arg381=) rs1801318
NM_001199981.1(NDUFS1):c.858G>T (p.Ala286=) rs1127566
NM_001242785.2(HLCS):c.1711G>A (p.Asp571Asn) rs119103228
NM_001256850.1(TTN):c.27790A>G (p.Ile9264Val) rs371826762
NM_001256850.1(TTN):c.49237G>C (p.Val16413Leu) rs200968679
NM_001278939.1(ELN):c.1150+1G>A rs727503030
NM_001303.3(COX10):c.184A>T (p.Thr62Ser) rs2230351
NM_001303.3(COX10):c.290A>G (p.Tyr97Cys) rs16948986
NM_001303.3(COX10):c.33C>T (p.Arg11=) rs8076787
NM_001303.3(COX10):c.682C>T (p.Arg228Cys) rs114521946
NM_001303.3(COX10):c.83C>T (p.Thr28Ile) rs16948978
NM_001303.3(COX10):c.929-7C>T rs62052075
NM_001303.3(COX10):c.981C>T (p.Asn327=) rs146175179
NM_001321120.2(TBX4):c.702+1G>A rs1555883342
NM_001369.2(DNAH5):c.1730G>C (p.Arg577Thr) rs397515541
NM_001376.4(DYNC1H1):c.7918G>A (p.Glu2640Lys) rs797045535
NM_001698.2(AUH):c.331-6G>A rs10991898
NM_001698.2(AUH):c.483A>C (p.Ile161=) rs7874056
NM_001698.2(AUH):c.77G>A (p.Cys26Tyr) rs74484860
NM_001698.2(AUH):c.824C>T (p.Ala275Val) rs748318386
NM_001698.2(AUH):c.927A>G (p.Glu309=) rs78739693
NM_001863.5(COX6B1):c.42C>T (p.Thr14=) rs7991
NM_001879.5(MASP1):c.863G>A (p.Arg288Gln) rs116001173
NM_001909.4(CTSD):c.1072-7G>A rs149019571
NM_001909.4(CTSD):c.1077G>A (p.Ser359=) rs138940129
NM_001909.4(CTSD):c.1215C>A (p.Gly405=) rs138733377
NM_001909.4(CTSD):c.173C>T (p.Ala58Val) rs17571
NM_001909.4(CTSD):c.231C>T (p.Ala77=) rs2230067
NM_001909.4(CTSD):c.353-12C>T rs141523461
NM_001909.4(CTSD):c.465T>C (p.Thr155=) rs11555039
NM_001909.4(CTSD):c.639C>G (p.Pro213=) rs146073498
NM_001909.4(CTSD):c.828-19A>C rs200047861
NM_001916.4(CYC1):c.227T>C (p.Val76Ala) rs144257411
NM_001916.4(CYC1):c.960A>C (p.Ala320=) rs35387134
NM_001931.4(DLAT):c.128C>T (p.Ala43Val) rs2303436
NM_001931.4(DLAT):c.1351G>A (p.Asp451Asn) rs10891314
NM_001931.4(DLAT):c.381+22delT rs5794771
NM_001931.4(DLAT):c.55G>C (p.Glu19Gln) rs61757217
NM_001931.4(DLAT):c.572C>T (p.Ala191Val) rs200500508
NM_001931.4(DLAT):c.626A>G (p.Gln209Arg) rs11553595
NM_001931.4(DLAT):c.693C>T (p.Thr231=) rs34680691
NM_001931.4(DLAT):c.953T>C (p.Val318Ala) rs627441
NM_001953.4(TYMP):c.1074A>G (p.Arg358=) rs372847627
NM_001953.4(TYMP):c.1393G>A (p.Ala465Thr) rs112723255
NM_001953.4(TYMP):c.1412C>T (p.Ser471Leu) rs11479
NM_001953.4(TYMP):c.735G>A (p.Gln245=) rs139223629
NM_001953.4(TYMP):c.831G>A (p.Leu277=) rs8141558
NM_001953.4(TYMP):c.972C>T (p.Ala324=) rs131804
NM_002016.1(FLG):c.7801G>A (p.Asp2601Asn) rs146849256
NM_002047.3(GARS):c.1163G>A (p.Arg388Gln) rs17159287
NM_002047.3(GARS):c.11C>T (p.Pro4Leu) rs62636572
NM_002047.3(GARS):c.803C>T (p.Thr268Ile) rs2230310
NM_002055.4(GFAP):c.*16G>A rs113487550
NM_002055.4(GFAP):c.*28C>G rs11558961
NM_002055.4(GFAP):c.140C>T (p.Pro47Leu) rs57474185
NM_002055.4(GFAP):c.462-8dupC rs572562362
NM_002055.4(GFAP):c.619-9C>G rs3744469
NM_002055.4(GFAP):c.738G>A (p.Ala246=) rs147404772
NM_002076.3(GNS):c.1650T>C (p.His550=) rs2230292
NM_002076.3(GNS):c.21C>G (p.Ala7=) rs61743823
NM_002076.3(GNS):c.253-10delT rs201654719
NM_002076.3(GNS):c.363G>A (p.Lys121=) rs2230291
NM_002076.3(GNS):c.459+14T>C rs78614637
NM_002087.3(GRN):c.264+7G>A rs60100877
NM_002087.3(GRN):c.359C>A (p.Ser120Tyr) rs63750043
NM_002087.3(GRN):c.384T>C (p.Asp128=) rs25646
NM_002087.3(GRN):c.835+7G>A rs72824736
NM_002087.3(GRN):c.99C>T (p.Asp33=) rs63750742
NM_002168.3(IDH2):c.1050C>T (p.Thr350=) rs11540478
NM_002168.3(IDH2):c.996C>T (p.Ser332=) rs61737003
NM_002294.2(LAMP2):c.-23_-15delGTCGCCGCC rs193922648
NM_002294.2(LAMP2):c.156A>T (p.Val52=) rs12097
NM_002294.2(LAMP2):c.927C>T (p.Ser309=) rs73219144
NM_002437.4(MPV17):c.135delA (p.Glu45Aspfs) rs777604559
NM_002488.4(NDUFA2):c.129G>A (p.Glu43=) rs73271536
NM_002495.2(NDUFS4):c.198A>C (p.Gly66=) rs31304
NM_002495.3(NDUFS4):c.12G>C (p.Val4=) rs2279516
NM_002495.3(NDUFS4):c.312A>G (p.Arg104=) rs31303
NM_002496.3(NDUFS8):c.255G>A (p.Pro85=) rs144125742
NM_002633.2(PGM1):c.*22C>T rs8294
NM_002633.2(PGM1):c.1145-7C>G rs72922609
NM_002633.2(PGM1):c.1280+7C>T rs72922610
NM_002633.2(PGM1):c.1500C>T (p.Ile500=) rs61737416
NM_002633.2(PGM1):c.1501G>A (p.Val501Ile) rs6676290
NM_002633.2(PGM1):c.1599+9C>T rs115864084
NM_002633.2(PGM1):c.262A>G (p.Ile88Val) rs855314
NM_002633.2(PGM1):c.661C>T (p.Arg221Cys) rs1126728
NM_002637.3(PHKA1):c.3043C>T (p.Arg1015Cys) rs782191011
NM_002637.3(PHKA1):c.429C>T (p.Leu143=) rs138066694
NM_002693.2(POLG):c.1156C>T (p.Arg386Cys) rs199759055
NM_002693.2(POLG):c.125G>A (p.Arg42Gln) rs74382477
NM_002693.2(POLG):c.128A>G (p.Gln43Arg) rs28567406
NM_002693.2(POLG):c.1399G>A (p.Ala467Thr) rs113994095
NM_002693.2(POLG):c.1491G>C (p.Gln497His) rs121918052
NM_002693.2(POLG):c.150_158dupGCAGCAGCA (p.Gln55_Pro56insGlnGlnGln) rs41550117
NM_002693.2(POLG):c.153G>A (p.Gln51=) rs1453538834
NM_002693.2(POLG):c.153_158delGCAGCA (p.Gln54_Gln55del) rs41550117
NM_002693.2(POLG):c.153_158dupGCAGCA (p.Gln55_Pro56insGlnGln) rs41550117
NM_002693.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_002693.2(POLG):c.156_158dupGCA (p.Gln55_Pro56insGln) rs41550117
NM_002693.2(POLG):c.159A>G (p.Gln53=) rs587781118
NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_002693.2(POLG):c.1880G>A (p.Arg627Gln) rs375305567
NM_002693.2(POLG):c.1984G>A (p.Glu662Lys) rs2307450
NM_002693.2(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.2(POLG):c.2243G>C (p.Trp748Ser) rs113994097
NM_002693.2(POLG):c.2254C>T (p.Leu752=) rs41564016
NM_002693.2(POLG):c.2481-7C>T rs2307448
NM_002693.2(POLG):c.264C>G (p.Phe88Leu) rs144439703
NM_002693.2(POLG):c.2724C>T (p.Ala908=) rs377390914
NM_002693.2(POLG):c.2740A>C (p.Thr914Pro) rs139590686
NM_002693.2(POLG):c.2864A>G (p.Tyr955Cys) rs113994099
NM_002693.2(POLG):c.2958C>T (p.Tyr986=) rs2307431
NM_002693.2(POLG):c.3139C>T (p.Arg1047Trp) rs181860632
NM_002693.2(POLG):c.3198G>A (p.Thr1066=) rs61752780
NM_002693.2(POLG):c.3412C>T (p.Arg1138Cys) rs767138032
NM_002693.2(POLG):c.3428A>G (p.Glu1143Gly) rs2307441
NM_002693.2(POLG):c.3573G>T (p.Lys1191Asn) rs1085307741
NM_002693.2(POLG):c.3708G>T (p.Gln1236His) rs3087374
NM_002693.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_002693.2(POLG):c.803G>C (p.Gly268Ala) rs61752784
NM_002693.2(POLG):c.856-5_856-3delCTC rs200056162
NM_002778.3(PSAP):c.-10A>G rs76455588
NM_002778.3(PSAP):c.1350+5G>A rs11000016
NM_002778.3(PSAP):c.1351-14A>G rs4747203
NM_002857.3(PEX19):c.181-15A>G rs114403769
NM_002857.3(PEX19):c.433-11G>T rs41265791
NM_002863.4(PYGL):c.153C>T (p.Asp51=) rs77316189
NM_002863.4(PYGL):c.1683C>T (p.Ser561=) rs145471351
NM_002863.4(PYGL):c.1900G>C (p.Asp634His) rs35026927
NM_002863.4(PYGL):c.2178-27dupT rs11414268
NM_002863.4(PYGL):c.2534A>G (p.Asn845Ser) rs78558135
NM_002863.4(PYGL):c.664G>A (p.Val222Ile) rs946616
NM_002863.4(PYGL):c.928C>T (p.Arg310Cys) rs35501326
NM_002863.4(PYGL):c.93T>C (p.Ser31=) rs17123244
NM_002979.4(SCP2):c.675-6T>C rs115815213
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003172.3(SURF1):c.280T>C (p.Leu94=) rs28615629
NM_003172.3(SURF1):c.54+10G>A rs587598397
NM_003172.3(SURF1):c.543C>T (p.Phe181=) rs62637580
NM_003172.3(SURF1):c.573C>G (p.Thr191=) rs28715079
NM_003366.3(UQCRC2):c.548G>A (p.Arg183Gln) rs4850
NM_003465.2(CHIT1):c.1060G>A (p.Gly354Arg) rs9943208
NM_003465.2(CHIT1):c.1155_1156+2delGAGT rs143439055
NM_003465.2(CHIT1):c.1161T>C (p.Leu387=) rs73066400
NM_003465.2(CHIT1):c.1325C>G (p.Ala442Gly) rs1065761
NM_003465.2(CHIT1):c.1325C>T (p.Ala442Val) rs1065761
NM_003465.2(CHIT1):c.304G>A (p.Gly102Ser) rs2297950
NM_003477.2(PDHX):c.241+3G>A rs78878052
NM_003477.2(PDHX):c.339C>T (p.Ile113=) rs34582941
NM_003477.2(PDHX):c.438C>T (p.Asp146=) rs75182779
NM_003477.2(PDHX):c.507C>T (p.Ile169=) rs79170416
NM_003477.2(PDHX):c.531C>T (p.Pro177=) rs76486106
NM_003477.2(PDHX):c.70C>G (p.Arg24Gly) rs11539201
NM_003482.3(KMT2D):c.15797G>A (p.Arg5266His) rs201481646
NM_003560.3(PLA2G6):c.238G>A (p.Ala80Thr) rs121908685
NM_003630.2(PEX3):c.245A>G (p.Gln82Arg) rs35220041
NM_003659.3(AGPS):c.147C>T (p.Pro49=) rs34442536
NM_003705.4(SLC25A12):c.1172-10delC rs535710884
NM_003705.4(SLC25A12):c.1338A>C (p.Pro446=) rs149278617
NM_003705.4(SLC25A12):c.1418G>A (p.Arg473Gln) rs35565687
NM_003705.4(SLC25A12):c.466-3C>T rs3765166
NM_003705.4(SLC25A12):c.728G>A (p.Arg243Lys) rs35881803
NM_003793.3(CTSF):c.126C>T (p.Pro42=) rs1044522
NM_003793.3(CTSF):c.1368C>T (p.Asp456=) rs148155987
NM_003793.3(CTSF):c.939G>A (p.Gly313=) rs114727660
NM_003849.3(SUCLG1):c.900C>T (p.Ala300=) rs113840224
NM_003849.3(SUCLG1):c.98-13_98-11delTTT rs56733272
NM_003849.3(SUCLG1):c.98-14_98-11delTTTT rs56733272
NM_003850.2(SUCLA2):c.1099G>A (p.Asp367Asn) rs117412559
NM_003850.2(SUCLA2):c.110T>G (p.Leu37Trp) rs62636645
NM_004035.6(ACOX1):c.1320T>C (p.Asp440=) rs8065946
NM_004035.6(ACOX1):c.1771C>T (p.Arg591Cys) rs35629489
NM_004035.6(ACOX1):c.591G>A (p.Gly197=) rs75808808
NM_004035.6(ACOX1):c.80C>T (p.Pro27Leu) rs145082938
NM_004035.6(ACOX1):c.921G>A (p.Arg307=) rs79677613
NM_004085.3(TIMM8A):c.-6C>T rs180806413
NM_004208.3(AIFM1):c.1833T>C (p.His611=) rs73556209
NM_004299.6(ABCB7):c.1323T>C (p.Asp441=) rs45598734
NM_004299.6(ABCB7):c.249+1G>A rs61323727
NM_004299.6(ABCB7):c.941G>A (p.Arg314Gln) rs147584361
NM_004299.6(ABCB7):c.948-7C>T rs5937938
NM_004315.5(ASAH1):c.1153G>A (p.Val385Ile) rs17636067
NM_004315.5(ASAH1):c.127-3C>T rs35513736
NM_004315.5(ASAH1):c.420T>A (p.Asp140Glu) rs2472205
NM_004328.4(BCS1L):c.1017T>C (p.Pro339=) rs35843327
NM_004328.4(BCS1L):c.550C>T (p.Arg184Cys) rs121908578
NM_004328.4(BCS1L):c.628G>A (p.Asp210Asn) rs58447305
NM_004328.4(BCS1L):c.996C>T (p.Asn332=) rs33946522
NM_004329.2(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056
NM_004329.2(BMPR1A):c.1342+6A>G rs55763614
NM_004329.2(BMPR1A):c.1560G>A (p.Thr520=) rs142775086
NM_004329.2(BMPR1A):c.435G>A (p.Pro145=) rs11818239
NM_004329.2(BMPR1A):c.4C>A (p.Pro2Thr) rs11528010
NM_004329.2(BMPR1A):c.676-5T>C rs200537780
NM_004360.4(CDH1):c.-71C>G rs34033771
NM_004360.4(CDH1):c.1145del (p.Gly382Valfs) rs1555515863
NM_004360.4(CDH1):c.1223C>T (p.Ala408Val) rs138135866
NM_004360.4(CDH1):c.1272C>T (p.Val424=) rs61756284
NM_004360.4(CDH1):c.1353T>C (p.Ile451=) rs114192597
NM_004360.4(CDH1):c.1680G>C (p.Thr560=) rs35741240
NM_004360.4(CDH1):c.2100del (p.Val701Serfs) rs1555517136
NM_004360.4(CDH1):c.2292C>T (p.Asp764=) rs61747636
NM_004360.4(CDH1):c.2440-6C>G rs139757930
NM_004360.4(CDH1):c.2520C>T (p.Ser840=) rs140328601
NM_004360.4(CDH1):c.2634C>T (p.Gly878=) rs2229044
NM_004360.4(CDH1):c.324A>G (p.Arg108=) rs116542018
NM_004360.4(CDH1):c.33G>C (p.Leu11=) rs730881654
NM_004360.4(CDH1):c.345G>A (p.Thr115=) rs1801023
NM_004360.4(CDH1):c.48+5C>G rs77312180
NM_004360.4(CDH1):c.531+10G>C rs33963999
NM_004360.4(CDH1):c.532-18C>T rs200673941
NM_004360.4(CDH1):c.933C>G (p.Leu311=) rs35539711
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691
NM_004376.6(COX15):c.1120T>C (p.Phe374Leu) rs2231687
NM_004453.3(ETFDH):c.1533T>C (p.Asp511=) rs77484245
NM_004453.3(ETFDH):c.1590A>G (p.Glu530=) rs143015234
NM_004453.3(ETFDH):c.832-10T>G rs200911913
NM_004541.3(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316
NM_004543.4(NEB):c.3623T>C (p.Ile1208Thr) rs201141958
NM_004543.4(NEB):c.4649A>G (p.Lys1550Arg) rs114089598
NM_004544.3(NDUFA10):c.1000-5delC rs138479490
NM_004544.3(NDUFA10):c.105A>G (p.Lys35=) rs2083411
NM_004544.3(NDUFA10):c.548-9A>G rs147876332
NM_004544.3(NDUFA10):c.5C>G (p.Ala2Gly) rs11541494
NM_004544.3(NDUFA10):c.771A>G (p.Gln257=) rs13848
NM_004550.4(NDUFS2):c.1054C>G (p.Pro352Ala) rs11576415
NM_004550.4(NDUFS2):c.1290C>T (p.Ala430=) rs1136207
NM_004550.4(NDUFS2):c.58C>A (p.Pro20Thr) rs11538340
NM_004563.3(PCK2):c.68C>G (p.Ser23Ter) rs61752842
NM_004565.2(PEX14):c.1014C>T (p.Asp338=) rs2128414
NM_004565.2(PEX14):c.1032G>T (p.Gly344=) rs11539794
NM_004565.2(PEX14):c.213C>G (p.Gly71=) rs41274482
NM_004565.2(PEX14):c.513C>A (p.Ala171=) rs35046754
NM_004565.2(PEX14):c.768G>A (p.Val256=) rs36083022
NM_004589.3(SCO1):c.16C>G (p.Leu6Val) rs61753148
NM_004614.4(TK2):c.122C>A (p.Pro41His) rs201904720
NM_004614.4(TK2):c.231+10C>T rs187517309
NM_004614.4(TK2):c.94C>T (p.Arg32Trp) rs200121712
NM_004655.3(AXIN2):c.1168A>G (p.Ser390Gly) rs139871607
NM_004655.3(AXIN2):c.1383C>T (p.Ser461=) rs9914661
NM_004655.3(AXIN2):c.1410C>T (p.His470=) rs149483825
NM_004655.3(AXIN2):c.1573C>G (p.Pro525Ala) rs73346297
NM_004655.3(AXIN2):c.1615G>A (p.Val539Met) rs9913621
NM_004655.3(AXIN2):c.1713-18G>A rs147664289
NM_004655.3(AXIN2):c.1962C>A (p.Gly654=) rs377642903
NM_004655.3(AXIN2):c.1985T>C (p.Leu662Pro) rs142476324
NM_004655.3(AXIN2):c.2052G>A (p.Ala684=) rs200573256
NM_004655.3(AXIN2):c.2109G>A (p.Arg703=) rs116525755
NM_004655.3(AXIN2):c.2272G>A (p.Ala758Thr) rs145007501
NM_004655.3(AXIN2):c.2285G>A (p.Ser762Asn) rs117688560
NM_004655.3(AXIN2):c.270C>T (p.Asp90=) rs141655687
NM_004655.4(AXIN2):c.2282C>A (p.Ala761Asp) rs79732150
NM_004813.2(PEX16):c.303C>T (p.Ala101=) rs80275010
NM_004813.2(PEX16):c.760G>C (p.Val254Leu) rs35214605
NM_004937.2(CTNS):c.108C>T (p.Asn36=) rs117404824
NM_004937.2(CTNS):c.462-7C>A rs189632527
NM_004992.3(MECP2):c.419C>T (p.Ala140Val) rs28934908
NM_004992.3(MECP2):c.925C>T (p.Arg309Trp) rs61751444
NM_005005.2(NDUFB9):c.201C>T (p.Ala67=) rs142579814
NM_005006.6(NDUFS1):c.1029T>G (p.Gly343=) rs72944827
NM_005006.6(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826
NM_005006.6(NDUFS1):c.1371G>A (p.Ser457=) rs2230892
NM_005006.6(NDUFS1):c.154-10_154-9delTT rs568965659
NM_005006.6(NDUFS1):c.414T>C (p.Asp138=) rs11548670
NM_005138.2(SCO2):c.327C>T (p.His109=) rs75485962
NM_005138.2(SCO2):c.582C>T (p.Ser194=) rs131811
NM_005138.2(SCO2):c.763C>A (p.Arg255=) rs112793292
NM_005138.2(SCO2):c.776C>T (p.Ala259Val) rs8139305
NM_005141.4(FGB):c.794C>T (p.Pro265Leu) rs6054
NM_005262.2(GFER):c.217del (p.Ala73Profs) rs1555486560
NM_005359.5(SMAD4):c.*11C>T rs11663402
NM_005359.5(SMAD4):c.1086T>C (p.Phe362=) rs1801250
NM_005359.5(SMAD4):c.1245_1248delCAGA (p.Asp415Glufs) rs80338965
NM_005359.5(SMAD4):c.1351_1375del25 (p.Ala451Leufs) rs587780124
NM_005359.5(SMAD4):c.263_267delAAGGA (p.Lys88Ilefs) rs1060500739
NM_005359.5(SMAD4):c.354G>A (p.Ala118=) rs145988618
NM_005359.5(SMAD4):c.455-6A>G rs181178864
NM_005359.5(SMAD4):c.565C>T (p.Arg189Cys) rs140743238
NM_005359.5(SMAD4):c.693C>T (p.Gly231=) rs765597059
NM_005566.3(LDHA):c.348C>A (p.Ile116=) rs6498
NM_005566.3(LDHA):c.608G>C (p.Gly203Ala) rs34305721
NM_005609.3(PYGM):c.1092+6dupC rs368602234
NM_005609.3(PYGM):c.1184C>T (p.Thr395Met) rs71581787
NM_005609.3(PYGM):c.1240C>G (p.Arg414Gly) rs11231866
NM_005609.3(PYGM):c.1494C>T (p.Pro498=) rs11231865
NM_005609.3(PYGM):c.1537A>G (p.Ile513Val) rs139570786
NM_005609.3(PYGM):c.1569C>G (p.Leu523=) rs114138772
NM_005609.3(PYGM):c.1621-19delT rs571976523
NM_005609.3(PYGM):c.2262delA (p.Lys754Asnfs) rs398124210
NM_005670.3(EPM2A):c.159C>G (p.Ala53=) rs2235482
NM_005670.3(EPM2A):c.163C>A (p.Gln55Lys) rs187930476
NM_005670.3(EPM2A):c.24G>A (p.Val8=) rs587780938
NM_005670.3(EPM2A):c.393G>A (p.Glu131=) rs61758155
NM_005670.3(EPM2A):c.402G>A (p.Gly134=) rs35230590
NM_005670.3(EPM2A):c.835G>A (p.Gly279Ser) rs137852917
NM_005763.3(AASS):c.1678C>T (p.Pro560Ser) rs74882337
NM_005888.3(SLC25A3):c.439T>C (p.Leu147=) rs11544648
NM_005888.3(SLC25A3):c.928+4G>A rs201617025
NM_005908.3(MANBA):c.*8T>G rs199881261
NM_005908.3(MANBA):c.1482G>T (p.Leu494=) rs74718667
NM_005908.3(MANBA):c.1705-13C>A rs34754408
NM_005908.3(MANBA):c.1705-13C>T rs34754408
NM_005908.3(MANBA):c.178-8A>G rs113584126
NM_005908.3(MANBA):c.2482G>A (p.Val828Ile) rs75826658
NM_005908.3(MANBA):c.831A>G (p.Leu277=) rs17033168
NM_005984.4(SLC25A1):c.279T>C (p.Gly93=) rs2070255
NM_005984.4(SLC25A1):c.894T>C (p.Asp298=) rs144180074
NM_006012.2(CLPP):c.368-8G>A rs143053584
NM_006012.2(CLPP):c.801G>A (p.Ala267=) rs112620134
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp) rs373044722
NM_006214.3(PHYH):c.135-2A>G rs201578674
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_006294.4(UQCRB):c.195G>A (p.Arg65=) rs11558865
NM_006351.3(TIMM44):c.1114A>G (p.Ile372Val) rs11542187
NM_006351.3(TIMM44):c.138A>G (p.Pro46=) rs145509783
NM_006351.3(TIMM44):c.184G>A (p.Gly62Ser) rs144317041
NM_006351.3(TIMM44):c.69A>G (p.Gln23=) rs35992331
NM_006351.3(TIMM44):c.753C>G (p.Asn251Lys) rs118048213
NM_006432.3(NPC2):c.442-4A>C rs114950106
NM_006432.4(NPC2):c.88G>A (p.Val30Met) rs151220873
NM_006493.2(CLN5):c.1103A>G (p.Lys368Arg) rs1800209
NM_006493.2(CLN5):c.1188T>C (p.Pro396=) rs36038805
NM_006493.2(CLN5):c.234C>G (p.Ala78=) rs138037471
NM_006493.2(CLN5):c.320+8C>T rs9565308
NM_006493.2(CLN5):c.4C>T (p.Arg2Cys) rs77416795
NM_006493.2(CLN5):c.528T>G (p.Thr176=) rs34481987
NM_006493.2(CLN5):c.72A>G (p.Gly24=) rs7987664
NM_006493.2(CLN5):c.955_970del16 (p.Gly319Phefs) rs386833983
NM_006493.3(CLN5):c.579C>A (p.Asn193Lys) rs138611001
NM_006567.4(FARS2):c.737C>T (p.Thr246Met) rs116567033
NM_006726.4(LRBA):c.1399A>G (p.Met467Val) rs116355217
NM_006726.4(LRBA):c.7597A>C (p.Thr2533Pro) rs62346982
NM_006796.2(AFG3L2):c.*2G>A rs113981080
NM_006796.2(AFG3L2):c.1026+8G>A rs8091858
NM_006796.2(AFG3L2):c.1389G>A (p.Leu463=) rs11080572
NM_006796.2(AFG3L2):c.1650A>G (p.Glu550=) rs11553521
NM_006796.2(AFG3L2):c.1664-9T>C rs200476229
NM_006796.2(AFG3L2):c.2314C>T (p.Leu772Phe) rs117182113
NM_007103.3(NDUFV1):c.1056T>C (p.Ala352=) rs11227859
NM_007103.3(NDUFV1):c.150C>T (p.Asp50=) rs11540012
NM_007103.3(NDUFV1):c.348C>T (p.Asn116=) rs139824241
NM_007103.3(NDUFV1):c.549C>G (p.Gly183=) rs10896187
NM_007194.3(CHEK2):c.1100delC (p.Thr367Metfs) rs555607708
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007208.3(MRPL3):c.782T>C (p.Met261Thr) rs2291381
NM_007208.3(MRPL3):c.931G>A (p.Gly311Ser) rs148679749
NM_007215.3(POLG2):c.927C>T (p.His309=) rs73332195
NM_007294.3(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950
NM_007294.3(BRCA1):c.1137T>G (p.Ile379Met) rs56128296
NM_007294.3(BRCA1):c.114G>A (p.Lys38=) rs1800062
NM_007294.3(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931
NM_007294.3(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676
NM_007294.3(BRCA1):c.1648A>C (p.Asn550His) rs56012641
NM_007294.3(BRCA1):c.1897C>T (p.Pro633Ser) rs80356902
NM_007294.3(BRCA1):c.1971A>G (p.Gln657=) rs28897679
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.2155A>G (p.Lys719Glu) rs80357147
NM_007294.3(BRCA1):c.21C>T (p.Arg7=) rs149402012
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.2458A>G (p.Lys820Glu) rs56082113
NM_007294.3(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.3(BRCA1):c.2523G>A (p.Arg841=) rs773013395
NM_007294.3(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300
NM_007294.3(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.3(BRCA1):c.2669G>T (p.Gly890Val) rs80356874
NM_007294.3(BRCA1):c.301+8T>C rs80358101
NM_007294.3(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941
NM_007294.3(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852
NM_007294.3(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945
NM_007294.3(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942
NM_007294.3(BRCA1):c.3640G>A (p.Glu1214Lys) rs80356923
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.3(BRCA1):c.4308T>C (p.Ser1436=) rs1060915
NM_007294.3(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744
NM_007294.3(BRCA1):c.4600G>A (p.Val1534Met) rs55815649
NM_007294.3(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.3(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967
NM_007294.3(BRCA1):c.5074+6C>G rs80358032
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs397507247
NM_007294.3(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033
NM_007294.3(BRCA1):c.5531T>G (p.Leu1844Arg) rs80357323
NM_007294.3(BRCA1):c.5576C>G (p.Pro1859Arg) rs80357322
NM_007294.3(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
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_012062.4(DNM1L):c.*21_*22delGAinsCT rs34421401
NM_012062.4(DNM1L):c.1470A>G (p.Glu490=) rs79393011
NM_012062.4(DNM1L):c.1968C>T (p.Leu656=) rs148634653
NM_012062.4(DNM1L):c.966C>T (p.Tyr322=) rs118169466
NM_012123.3(MTO1):c.922A>G (p.Thr308Ala) rs145043138
NM_012160.4(FBXL4):c.1067delG (p.Gly356Alafs) rs1554219474
NM_012160.4(FBXL4):c.1790A>C (p.Gln597Pro) rs201989042
NM_012160.4(FBXL4):c.978A>G (p.Gln326=) rs61744041
NM_012160.4(FBXL4):c.9G>A (p.Pro3=) rs773041308
NM_012208.3(HARS2):c.324T>C (p.Tyr108=) rs143687204
NM_012208.3(HARS2):c.868C>T (p.Leu290=) rs73273316
NM_012434.4(SLC17A5):c.246G>A (p.Ala82=) rs472294
NM_014049.4(ACAD9):c.1430G>A (p.Arg477Gln) rs4494951
NM_014049.4(ACAD9):c.976G>A rs115532916
NM_014165.3(NDUFAF4):c.241-9dupT rs34213186
NM_014165.3(NDUFAF4):c.420G>A (p.Gln140=) rs11402
NM_014165.3(NDUFAF4):c.430T>C (p.Leu144=) rs6684
NM_014236.3(GNPAT):c.1479C>T (p.Ser493=) rs35033351
NM_014236.3(GNPAT):c.1556A>G (p.Asp519Gly) rs11558492
NM_014236.3(GNPAT):c.569-11del rs199905093
NM_014297.4(ETHE1):c.227-9C>G rs199921503
NM_014297.4(ETHE1):c.61G>T (p.Ala21Ser) rs116440799
NM_014317.4(PDSS1):c.163-5del rs34296355
NM_014317.4(PDSS1):c.589A>G (p.Lys197Glu) rs116424900
NM_014324.5(AMACR):c.25G>A (p.Val9Met) rs3195676
NM_014324.5(AMACR):c.524G>A (p.Gly175Asp) rs10941112
NM_014324.5(AMACR):c.602T>C (p.Leu201Ser) rs2287939
NM_014324.5(AMACR):c.712C>T (p.Pro238Ser) rs9282594
NM_014324.5(AMACR):c.717G>T (p.Gln239His) rs34677
NM_014324.5(AMACR):c.782T>C (p.Met261Thr) rs3195678
NM_014324.5(AMACR):c.829G>A (p.Glu277Lys) rs2278008
NM_014324.5(AMACR):c.837G>A (p.Thr279=) rs35655488
NM_014363.5(SACS):c.10106T>C (p.Val3369Ala) rs17078605
NM_014363.5(SACS):c.10338G>A (p.Gln3446=) rs2737701
NM_014363.5(SACS):c.10668G>A (p.Leu3556=) rs139517699
NM_014363.5(SACS):c.1066A>C (p.Ile356Leu) rs148286091
NM_014363.5(SACS):c.11032C>G (p.Pro3678Ala) rs17078601
NM_014363.5(SACS):c.12304T>C (p.Leu4102=) rs2737699
NM_014363.5(SACS):c.13717A>C (p.Asn4573His) rs34382952
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.171+6C>T rs3751368
NM_014363.5(SACS):c.1839G>A (p.Gln613=) rs35840595
NM_014363.5(SACS):c.2080G>A (p.Ala694Thr) rs17325713
NM_014363.5(SACS):c.4188C>T (p.His1396=) rs61754477
NM_014363.5(SACS):c.6195T>C (p.Ile2065=) rs4143768
NM_014363.5(SACS):c.6240T>C (p.Val2080=) rs550680855
NM_014363.5(SACS):c.6267G>A (p.Ser2089=) rs9550956
NM_014363.5(SACS):c.696T>A (p.Asn232Lys) rs2031640
NM_014363.5(SACS):c.7384C>T (p.Pro2462Ser) rs78239814
NM_014363.5(SACS):c.8339T>G (p.Phe2780Cys) rs111540787
NM_014363.5(SACS):c.8393C>A (p.Pro2798Gln) rs140551762
NM_014363.5(SACS):c.8577C>T (p.His2859=) rs140016265
NM_014363.5(SACS):c.8853T>C (p.Val2951=) rs9552929
NM_014363.5(SACS):c.909A>G (p.Ala303=) rs41315020
NM_014363.5(SACS):c.972C>A (p.Asp324Glu) rs546652936
NM_014363.5(SACS):c.9981T>C (p.Ala3327=) rs2737700
NM_014402.4(UQCRQ):c.108C>G (p.Pro36=) rs36093416
NM_014929.3(FASTKD2):c.149A>G (p.Lys50Arg) rs141447598
NM_014929.3(FASTKD2):c.29G>C (p.Ser10Thr) rs147727753
NM_014929.3(FASTKD2):c.44G>A (p.Ser15Asn) rs3762568
NM_015294.4(TRIM37):c.810-3delT rs367700401
NM_015294.5(TRIM37):c.810-3dup rs367700401
NM_015340.3(LARS2):c.1383T>C (p.Ile461=) rs35347543
NM_015340.3(LARS2):c.1565C>A (p.Thr522Asn) rs199589947
NM_015340.3(LARS2):c.945G>C (p.Ser315=) rs145135580
NM_015340.3(LARS2):c.972C>A (p.His324Gln) rs71645922
NM_015346.3(ZFYVE26):c.7055C>T (p.Thr2352Ile) rs151166497
NM_015488.4(PNKD):c.265G>A (p.Gly89Arg) rs147259983
NM_015488.4(PNKD):c.652C>A (p.Arg218=) rs34745867
NM_015560.2(OPA1):c.1071A>G (p.Ala357=) rs150807064
NM_015560.2(OPA1):c.1146A>G (p.Ile382Met) rs143319805
NM_015560.2(OPA1):c.1608A>C (p.Ala536=) rs78767626
NM_015560.2(OPA1):c.1884A>G (p.Val628=) rs73069703
NM_015560.2(OPA1):c.2715A>G (p.Arg905=) rs144898877
NM_015560.2(OPA1):c.2796C>T (p.Arg932=) rs35540805
NM_015560.2(OPA1):c.575C>T (p.Ala192Val) rs34307082
NM_015697.8(COQ2):c.196G>T (p.Val66Leu) rs6818847
NM_015697.8(COQ2):c.64A>T (p.Arg22Ter) rs112033303
NM_015697.8(COQ2):c.894T>C (p.Asp298=) rs6535454
NM_015697.8(COQ2):c.990C>T (p.Ser330=) rs1129617
NM_016013.3(NDUFAF1):c.-6T>G rs180730324
NM_016013.3(NDUFAF1):c.26G>A (p.Arg9His) rs1899
NM_016013.3(NDUFAF1):c.526G>A (p.Glu176Lys) rs35227875
NM_016013.3(NDUFAF1):c.708G>A (p.Met236Ile) rs150539399
NM_016013.3(NDUFAF1):c.909G>A (p.Val303=) rs73407109
NM_016013.3(NDUFAF1):c.92G>T (p.Arg31Leu) rs3204853
NM_016013.3(NDUFAF1):c.941C>G (p.Ala314Gly) rs12900702
NM_016035.4(COQ4):c.318G>A (p.Ser106=) rs2270203
NM_016035.4(COQ4):c.424G>A (p.Ala142Thr) rs34043652
NM_016065.3(MRPS16):c.34T>C (p.Tyr12His) rs7905009
NM_016065.3(MRPS16):c.389C>G (p.Thr130Arg) rs117510230
NM_016098.3(MPC1):c.106C>A (p.Leu36Ile) rs11557064
NM_016203.3(PRKAG2):c.*3G>A rs113234987
NM_016203.3(PRKAG2):c.-26C>T rs66628686
NM_016203.3(PRKAG2):c.114+12C>T rs77902041
NM_016203.3(PRKAG2):c.1623T>C (p.Ile541=) rs28763998
NM_016292.2(TRAP1):c.2053G>A (p.Asp685Asn) rs61756352
NM_016360.3(TACO1):c.498T>C (p.His166=) rs17549732
NM_017547.3(FOXRED1):c.1139A>G (p.His380Arg) rs7116126
NM_017547.3(FOXRED1):c.433G>A (p.Val145Ile) rs34542988
NM_017775.3(TTC19):c.146C>T (p.Pro49Leu) rs537063695
NM_017775.3(TTC19):c.573G>A (p.Ala191=) rs58517927
NM_017827.3(SARS2):c.103A>G (p.Thr35Ala) rs34264048
NM_017827.3(SARS2):c.1530_1538dupGCTGCCTGG (p.Gly513_Gln514insLeuProGly) rs551671819
NM_017827.3(SARS2):c.248C>T (p.Ser83Leu) rs34050897
NM_017827.3(SARS2):c.321G>A (p.Glu107=) rs11544093
NM_017827.3(SARS2):c.590-5T>A rs370612303
NM_017837.3(PIGV):c.1022C>A (p.Ala341Glu) rs139073416
NM_017866.5(TMEM70):c.100G>C (p.Ala34Pro) rs8075
NM_017866.5(TMEM70):c.346C>G (p.Leu116Val) rs61732273
NM_017866.5(TMEM70):c.379A>G (p.Thr127Ala) rs61734099
NM_017866.5(TMEM70):c.580G>A (p.Val194Met) rs77410280
NM_017866.5(TMEM70):c.748A>G (p.Thr250Ala) rs1053079
NM_017866.5(TMEM70):c.777C>G (p.Asp259Glu) rs1053077
NM_017882.2(CLN6):c.298-6C>T rs117038427
NM_017882.2(CLN6):c.34G>A (p.Ala12Thr) rs112239768
NM_017882.2(CLN6):c.486+8C>T rs149692285
NM_017882.2(CLN6):c.769A>G (p.Ser257Gly) rs151295143
NM_017882.2(CLN6):c.840G>A (p.Leu280=) rs148949069
NM_017929.5(PEX26):c.*10C>T rs117472525
NM_017929.5(PEX26):c.409G>C (p.Val137Leu) rs142648687
NM_018006.4(TRMU):c.*8G>C rs55905826
NM_018006.4(TRMU):c.28G>T (p.Ala10Ser) rs11090865
NM_018006.4(TRMU):c.37_48dupGGCGGCGTGGAC (p.Asp16_Ser17insGlyGlyValAsp) rs863224243
NM_018006.4(TRMU):c.442G>A (p.Glu148Lys) rs34012206
NM_018006.4(TRMU):c.552C>T (p.Ala184=) rs35772382
NM_018006.4(TRMU):c.927C>T (p.Arg309=) rs9627420
NM_018060.3(IARS2):c.1564A>G (p.Ile522Val) rs11800305
NM_018060.3(IARS2):c.23G>T (p.Arg8Leu) rs149324758
NM_018109.3(MTPAP):c.158-9C>T rs139217290
NM_018109.3(MTPAP):c.484C>T (p.Arg162Cys) rs1047991
NM_018122.4(DARS2):c.228-10delC rs374122386
NM_018122.5(DARS2):c.1013G>A (p.Gly338Glu) rs141298312
NM_018122.5(DARS2):c.1642C>A (p.Leu548Met) rs149660059
NM_018122.5(DARS2):c.228-10dup rs374122386
NM_018122.5(DARS2):c.228-20dup rs143246542
NM_018122.5(DARS2):c.397-6T>G rs115051769
NM_018122.5(DARS2):c.455G>T (p.Cys152Phe) rs121918208
NM_018122.5(DARS2):c.587A>G (p.Lys196Arg) rs35515638
NM_018122.5(DARS2):c.663+8T>C rs73037062
NM_018127.6(ELAC2):c.155C>T (p.Ser52Phe) rs9895963
NM_018127.6(ELAC2):c.1621G>A (p.Ala541Thr) rs5030739
NM_018127.6(ELAC2):c.2342G>A (p.Arg781His) rs119484086
NM_018127.6(ELAC2):c.650C>T (p.Ser217Leu) rs4792311
NM_018238.4(AGK):c.424-5C>T rs113599212
NM_018328.4(MBD5):c.236G>A (p.Gly79Glu) rs34995577
NM_018941.3(CLN8):c.685C>G (p.Pro229Ala) rs150047904
NM_020191.2(MRPS22):c.201A>G (p.Lys67=) rs11556243
NM_020247.4(COQ8A):c.1053C>T (p.Gly351=) rs55958233
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.1716T>C (p.Ser572=) rs3738725
NM_020247.4(COQ8A):c.255T>G (p.His85Gln) rs2297411
NM_020247.4(COQ8A):c.63G>A (p.Ala21=) rs11549709
NM_020247.4(COQ8A):c.67G>A (p.Val23Met) rs35582308
NM_020247.4(COQ8A):c.993C>T (p.Phe331=) rs41303129
NM_020312.3(COQ9):c.102G>A (p.Pro34=) rs223864
NM_020312.3(COQ9):c.864G>C (p.Lys288Asn) rs61730662
NM_020320.3(RARS2):c.606C>T (p.Leu202=) rs75794097
NM_020320.3(RARS2):c.703G>A (p.Val235Met) rs35862137
NM_020320.4(RARS2):c.155A>T (p.Lys52Ile) rs73496064
NM_020320.4(RARS2):c.1704A>G (p.Lys568=) rs8802
NM_020320.4(RARS2):c.456T>C (p.Asn152=) rs141374913
NM_020320.4(RARS2):c.63A>G (p.Pro21=) rs7748563
NM_020320.4(RARS2):c.78A>C (p.Thr26=) rs138360045
NM_020320.4(RARS2):c.872A>G (p.Lys291Arg) rs17850652
NM_020320.4(RARS2):c.991A>G (p.Ile331Val) rs3757370
NM_020381.3(PDSS2):c.11G>C (p.Arg4Pro) rs3734676
NM_020381.3(PDSS2):c.7T>C (p.Phe3Leu) rs3734675
NM_020451.2(SELENON):c.943G>A (p.Gly315Ser) rs121908188
NM_020458.3(TTC7A):c.437G>T (p.Arg146Leu) rs61746139
NM_020533.2(MCOLN1):c.1200C>T (p.Gly400=) rs28541364
NM_020533.2(MCOLN1):c.1360-13G>A rs2305888
NM_020533.2(MCOLN1):c.405+13G>A rs73488492
NM_020533.2(MCOLN1):c.782C>T (p.Thr261Met) rs73003348
NM_020533.2(MCOLN1):c.966A>C (p.Arg322=) rs61736600
NM_020533.2(MCOLN1):c.984C>T (p.Asn328=) rs612862
NM_020549.4(CHAT):c.1198G>A (p.Asp400Asn) rs8178991
NM_020549.4(CHAT):c.1248C>T (p.Asn416=) rs116071049
NM_020549.4(CHAT):c.141C>G (p.Asp47Glu) rs3810948
NM_020549.4(CHAT):c.2177C>T (p.Pro726Leu) rs79414242
NM_020549.4(CHAT):c.327G>A (p.Thr109=) rs79914771
NM_020549.4(CHAT):c.438C>T (p.Tyr146=) rs61731734
NM_020549.4(CHAT):c.727C>T (p.Leu243Phe) rs8178990
NM_020549.4(CHAT):c.903T>C (p.Pro301=) rs113897064
NM_020686.5(ABAT):c.1147C>T (p.Leu383=) rs2229158
NM_020686.5(ABAT):c.1269+4A>C rs183947905
NM_020686.5(ABAT):c.1270-4A>G rs12447235
NM_020686.5(ABAT):c.129G>A (p.Gly43=) rs2228081
NM_020686.5(ABAT):c.309C>T (p.Val103=) rs2229157
NM_020686.5(ABAT):c.603+3G>A rs41312254
NM_020686.5(ABAT):c.817-6A>G rs140106845
NM_020745.3(AARS2):c.2188G>A (p.Val730Met) rs35623954
NM_020745.3(AARS2):c.2253G>A (p.Gly751=) rs78397386
NM_021074.4(NDUFV2):c.201A>T (p.Val67=) rs41274300
NM_021074.4(NDUFV2):c.86T>C (p.Val29Ala) rs906807
NM_021147.4(CCNO):c.134C>A (p.Pro45His) rs139606873
NM_021209.4(NLRC4):c.2357G>T (p.Gly786Val) rs149451729
NM_021734.4(SLC25A19):c.*2T>C rs1809352
NM_021734.4(SLC25A19):c.339T>C (p.Tyr113=) rs7213318
NM_021734.4(SLC25A19):c.819G>A (p.Leu273=) rs4789164
NM_021828.4(HPSE2):c.1465_1466delAA (p.Asn489Profs) rs397515338
NM_021830.4(TWNK):c.639C>T (p.Gly213=) rs11542130
NM_021912.4(GABRB3):c.31C>T (p.Pro11Ser) rs25409
NM_021957.3(GYS2):c.1636A>G (p.Thr546Ala) rs61733199
NM_021957.3(GYS2):c.1965G>C (p.Gln655His) rs117639846
NM_021957.3(GYS2):c.280G>A (p.Ala94Thr) rs34225615
NM_021957.4(GYS2):c.1464A>G (p.Leu488=) rs35403985
NM_021957.4(GYS2):c.2005G>A (p.Asp669Asn) rs142656537
NM_021957.4(GYS2):c.2067C>T (p.His689=) rs7954038
NM_022089.3(ATP13A2):c.1005C>T (p.Ala335=) rs56290406
NM_022089.3(ATP13A2):c.1195+10G>A rs55689004
NM_022089.3(ATP13A2):c.1195+9C>T rs117758987
NM_022089.3(ATP13A2):c.132A>G (p.Pro44=) rs200816691
NM_022089.3(ATP13A2):c.1926G>A (p.Ala642=) rs200916673
NM_022089.3(ATP13A2):c.3144C>G (p.Thr1048=) rs56126202
NM_022089.3(ATP13A2):c.3235+17G>A rs56146840
NM_022089.3(ATP13A2):c.3430G>A (p.Ala1144Thr) rs151181674
NM_022089.3(ATP13A2):c.844A>T (p.Ser282Cys) rs538497077
NM_022089.3(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069
NM_022098.3(XPNPEP3):c.111A>G (p.Pro37=) rs1894658
NM_022098.3(XPNPEP3):c.1477C>G (p.Pro493Ala) rs146023695
NM_022445.3(TPK1):c.98G>A (p.Arg33His) rs77358162
NM_023036.4(DNAI2):c.1715C>T (p.Pro572Leu) rs151241589
NM_024079.4(ALG8):c.478+1G>A rs139832787
NM_024120.4(NDUFAF5):c.582C>T (p.Leu194=) rs117002283
NM_024312.4(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709
NM_024312.4(GNPTAB):c.18G>A (p.Leu6=) rs4764655
NM_024312.4(GNPTAB):c.27G>A (p.Gln9=) rs222504
NM_024312.4(GNPTAB):c.3335+14G>A rs141927805
NM_024312.4(GNPTAB):c.3602+8C>A rs79493678
NM_024312.4(GNPTAB):c.3693+10A>T rs76021817
NM_024407.4(NDUFS7):c.408+10G>T rs2074896
NM_024407.4(NDUFS7):c.54-5G>A rs775718887
NM_024407.4(NDUFS7):c.68C>T (p.Pro23Leu) rs1142530
NM_024531.4(SLC52A2):c.1089G>A (p.Pro363=) rs146292053
NM_024876.3(COQ8B):c.1055C>G (p.Thr352Arg) rs36012476
NM_024876.3(COQ8B):c.232C>T (p.Arg78Cys) rs11538384
NM_024876.3(COQ8B):c.381G>A (p.Gly127=) rs55895642
NM_024884.2(L2HGDH):c.159C>T (p.Ile53=) rs2297995
NM_024884.2(L2HGDH):c.53T>G (p.Leu18Arg) rs2275591
NM_024884.2(L2HGDH):c.6G>T (p.Val2=) rs113626637
NM_024884.2(L2HGDH):c.840A>G (p.Pro280=) rs72683923
NM_024996.5(GFM1):c.1083+6T>G rs142919829
NM_024996.5(GFM1):c.1601+9G>C rs77186707
NM_024996.5(GFM1):c.1990G>A (p.Val664Ile) rs62288347
NM_025074.6(FRAS1):c.5046C>G (p.Asp1682Glu) rs35219594
NM_025114.3(CEP290):c.2980G>A (p.Glu994Lys) rs182369459
NM_025136.3(OPA3):c.231T>C (p.Ala77=) rs3826860
NM_025150.4(TARS2):c.1034A>G (p.His345Arg) rs115390773
NM_025150.4(TARS2):c.1160C>T (p.Pro387Leu) rs141179905
NM_025150.4(TARS2):c.1453G>A (p.Val485Ile) rs116552645
NM_025152.2(NUBPL):c.-1C>T rs45468395
NM_025152.2(NUBPL):c.311T>C (p.Leu104Pro) rs201430951
NM_025152.2(NUBPL):c.545T>C (p.Val182Ala) rs61752327
NM_025152.2(NUBPL):c.77G>T (p.Gly26Val) rs77539990
NM_025152.2(NUBPL):c.815-27T>C rs118161496
NM_025215.5(PUS1):c.364C>A (p.Arg122=) rs142954643
NM_025215.5(PUS1):c.999G>C (p.Leu333=) rs150359622
NM_025243.3(SLC19A3):c.1049T>C (p.Val350Ala) rs34507036
NM_025243.3(SLC19A3):c.1112C>T (p.Ala371Val) rs142166552
NM_025243.3(SLC19A3):c.309G>A (p.Val103=) rs142837989
NM_025243.3(SLC19A3):c.520G>A (p.Val174Ile) rs59736804
NM_025243.3(SLC19A3):c.621A>G (p.Ile207Met) rs145804755
NM_031220.3(PITPNM3):c.1878G>C (p.Gln626His) rs76024428
NM_032273.3(TMEM126A):c.191G>A (p.Arg64His) rs11556797
NM_032273.3(TMEM126A):c.314G>A (p.Arg105Gln) rs146573578
NM_032273.3(TMEM126A):c.96T>G (p.Leu32=) rs36100288
NM_032520.4(GNPTG):c.255G>A (p.Pro85=) rs76594024
NM_032520.4(GNPTG):c.857C>T (p.Thr286Met) rs193302860
NM_032609.2(COX4I2):c.482G>A (p.Arg161His) rs11907253
NM_032861.3(SERAC1):c.139T>A (p.Phe47Ile) rs112780453
NM_032861.3(SERAC1):c.89T>C (p.Ile30Thr) rs34270473
NM_033109.4(PNPT1):c.1251G>A (p.Gly417=) rs146111948
NM_033632.3(FBXW7):c.1514G>A (p.Arg505His) rs1057519896
NM_053013.3(ENO3):c.86-3delC rs151153333
NM_053013.3(ENO3):c.993C>T (p.Ala331=) rs2230257
NM_053013.3(ENO3):c.994G>A (p.Val332Ile) rs61735456
NM_080877.2(SLC34A3):c.448+1G>A rs150841256
NM_080916.2(DGUOK):c.159G>A (p.Thr53=) rs62641680
NM_080916.2(DGUOK):c.176C>G (p.Thr59Arg) rs144907403
NM_080916.2(DGUOK):c.423G>A (p.Glu141=) rs1804599
NM_080916.2(DGUOK):c.509A>G (p.Gln170Arg) rs74874677
NM_130831.2(OPA1):c.420G>T (p.Val140=) rs35801538
NM_133259.3(LRPPRC):c.1068A>G (p.Gln356=) rs4953042
NM_133259.3(LRPPRC):c.1432A>G (p.Thr478Ala) rs35035668
NM_133259.3(LRPPRC):c.1928A>G (p.His643Arg) rs148575027
NM_133259.3(LRPPRC):c.246G>A (p.Gln82=) rs6741066
NM_133259.3(LRPPRC):c.2562A>G (p.Val854=) rs4494798
NM_133259.3(LRPPRC):c.41C>G (p.Ala14Gly) rs114205971
NM_133259.3(LRPPRC):c.64C>G (p.Leu22Val) rs181626399
NM_133378.4(TTN):c.12814G>T (p.Asp4272Tyr) rs72648940
NM_138425.3(C12orf57):c.1A>G (p.Met1Val) rs587776954
NM_139242.3(MTFMT):c.16C>T (p.Arg6Trp) rs199599204
NM_144687.3(NLRP12):c.910C>T (p.His304Tyr) rs141245482
NM_145261.3(DNAJC19):c.69G>A (p.Leu23=) rs142023670
NM_145691.3(ATPAF2):c.346T>C (p.Leu116=) rs144484457
NM_145691.3(ATPAF2):c.511G>A (p.Val171Met) rs62073570
NM_145691.3(ATPAF2):c.738G>A (p.Gln246=) rs33997182
NM_152269.4(C12orf65):c.210delA (p.Gly72Alafs) rs576462794
NM_152269.4(C12orf65):c.273C>T (p.Ile91=) rs2280424
NM_152269.4(C12orf65):c.44G>A (p.Arg15Gln) rs78651634
NM_152416.3(NDUFAF6):c.51C>A (p.Ile17=) rs113557846
NM_152416.3(NDUFAF6):c.663A>G (p.Pro221=) rs193102273
NM_152416.3(NDUFAF6):c.838G>A (p.Val280Ile) rs61743028
NM_152419.2(HGSNAT):c.108G>A (p.Ala36=) rs886062952
NM_152419.2(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592
NM_152419.2(HGSNAT):c.1840G>A (p.Val614Ile) rs73675469
NM_152419.2(HGSNAT):c.342C>T (p.Asn114=) rs184883937
NM_152778.2(MFSD8):c.1153G>C (p.Gly385Arg) rs11098943
NM_152778.2(MFSD8):c.1268C>T (p.Ala423Val) rs3733319
NM_152778.2(MFSD8):c.1351-9C>T rs75039907
NM_152778.2(MFSD8):c.199-8T>C rs112721309
NM_152778.2(MFSD8):c.573A>G (p.Thr191=) rs115275192
NM_152783.4(D2HGDH):c.1012G>A (p.Val338Ile) rs1106639
NM_152783.4(D2HGDH):c.1066C>T (p.His356Tyr) rs144668507
NM_152783.4(D2HGDH):c.1082C>T (p.Ala361Val) rs1105273
NM_152783.4(D2HGDH):c.1107T>C (p.Asp369=) rs141343442
NM_152783.4(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303
NM_152783.4(D2HGDH):c.1395G>A (p.Thr465=) rs111670322
NM_152783.4(D2HGDH):c.164G>A (p.Arg55Gln) rs77940364
NM_152783.4(D2HGDH):c.292+9G>A rs148813816
NM_152783.4(D2HGDH):c.43C>G (p.Arg15Gly) rs4675887
NM_152783.4(D2HGDH):c.685-9T>C rs4234097
NM_152783.4(D2HGDH):c.720C>A (p.Thr240=) rs147210645
NM_153033.4(KCTD7):c.267G>A (p.Thr89=) rs3764904
NM_153033.4(KCTD7):c.654C>T (p.Asp218=) rs117194263
NM_153281.1(HYAL1):c.1175C>T (p.Thr392Met) rs117179004
NM_153281.1(HYAL1):c.1277C>G (p.Ala426Gly) rs142342237
NM_153281.1(HYAL1):c.766G>A (p.Gly256Arg) rs116482870
NM_153638.3(PANK2):c.-6-5G>A rs71647826
NM_153638.3(PANK2):c.137A>T (p.Asp46Val) rs148036492
NM_153638.3(PANK2):c.1413-14_1413-13insCCCCCT rs1555789541
NM_153638.3(PANK2):c.276G>A (p.Arg92=) rs142832849
NM_153638.3(PANK2):c.519C>G (p.Pro173=) rs71647829
NM_153717.2(EVC):c.1369G>A (p.Glu457Lys) rs141859946
NM_153818.1(PEX10):c.*11G>A rs3795270
NM_153818.1(PEX10):c.291A>G (p.Thr97=) rs2494598
NM_153818.1(PEX10):c.6C>G (p.Ala2=) rs112471479
NM_153818.1(PEX10):c.973-4G>A rs11586985
NM_173477.4(USH1G):c.832_851del20 (p.Ser278Profs) rs397515345
NM_173660.4(DOK7):c.1171G>A (p.Gly391Arg) rs144158112
NM_174889.4(NDUFAF2):c.462T>C (p.Phe154=) rs77878573
NM_174889.4(NDUFAF2):c.60G>A (p.Lys20=) rs158921
NM_174917.4(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796
NM_175073.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324
NM_175073.2(APTX):c.484-25_484-3del23 rs779869639
NM_175073.2(APTX):c.971A>T (p.Gln324Leu) rs141493373
NM_178151.2(DCX):c.809-1G>A rs587783589
NM_182476.2(COQ6):c.1016A>T (p.Asp339Val) rs2074930
NM_182476.2(COQ6):c.1216G>A (p.Val406Met) rs8500
NM_182476.2(COQ6):c.570T>C (p.His190=) rs3180946
NM_182760.3(SUMF1):c.*10_*11delAAinsGT rs71623163
NM_182760.3(SUMF1):c.445-22T>C rs711634
NM_182760.3(SUMF1):c.602+13C>T rs80204284
NM_184043.2(ALDOA):c.1038C>T (p.Ser346=) rs77290575
NM_184043.2(ALDOA):c.249A>G (p.Thr83=) rs76767223
NM_198076.5(COX20):c.42+9G>A rs192100928
NM_198076.5(COX20):c.87C>T (p.Cys29=) rs140032239
NM_198586.2(NHLRC1):c.303G>T (p.Pro101=) rs187783545
NM_198586.2(NHLRC1):c.312T>C (p.His104=) rs115931931
NM_213595.3(ISCU):c.51G>A (p.Leu17=) rs112552261

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