ClinVar Miner

Variants from Mayo Clinic Laboratories, Mayo Clinic with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Mayo Clinic Laboratories, Mayo Clinic: Collection method of the submission from Mayo Clinic 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 per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
1189 1233 52 681 324 17 86 1047

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 Laboratories, Mayo Clinic pathogenic likely pathogenic uncertain significance likely benign benign drug response protective risk factor other
pathogenic 6 23 29 3 2 1 1 8 3
likely pathogenic 53 0 11 1 2 1 1 0 1
uncertain significance 25 25 7 145 96 1 1 3 2
likely benign 0 2 85 1 358 0 0 0 0
benign 1 3 46 248 38 1 0 1 0

Submitter to submitter summary #

Total submitters: 100
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
GeneDx 0 928 0 287 85 0 26 396
Genetic Services Laboratory, University of Chicago 0 99 0 174 14 1 2 191
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 551 0 114 59 4 7 181
Invitae 0 186 0 90 81 0 7 177
PreventionGenetics, PreventionGenetics 0 651 0 118 28 0 1 147
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 265 0 89 20 0 4 113
Integrated Genetics/Laboratory Corporation of America 0 175 0 50 41 0 5 96
CeGaT Praxis fuer Humangenetik Tuebingen 0 140 0 30 49 0 8 85
Quest Diagnostics Nichols Institute San Juan Capistrano 0 139 0 49 28 0 6 83
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 0 46 11 20 0 1 78
Department of Pathology and Laboratory Medicine,Sinai Health System 0 90 0 23 31 0 21 74
Illumina Clinical Services Laboratory,Illumina 0 86 0 27 27 0 10 63
Athena Diagnostics Inc 0 131 0 34 16 0 3 52
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 175 0 20 25 0 4 49
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 54 0 22 19 0 4 45
Ambry Genetics 0 74 0 22 8 0 3 33
OMIM 0 30 0 2 0 11 8 21
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 32 0 15 2 0 0 17
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 36 0 15 0 0 0 15
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 10 0 6 5 0 2 13
GeneReviews 0 5 6 3 0 0 0 9
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 5 0 8 1 0 0 9
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 7 0 5 2 0 0 7
Natera, Inc. 0 16 0 0 5 0 2 7
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 3 0 5 0 2 1 7
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 25 0 3 0 0 3 6
Baylor Genetics 0 14 0 3 0 0 3 5
Mendelics 0 9 0 0 5 0 0 5
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 33 0 3 0 0 2 5
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 5 0 2 0 0 2 4
CSER _CC_NCGL, University of Washington 0 9 0 1 2 0 1 4
GeneKor MSA 0 27 0 3 0 0 1 4
Department of Pathology and Molecular Medicine,Queen's University 0 2 0 3 1 0 0 4
Wellcome Centre for Mitochondrial Research,Newcastle University 0 2 0 1 0 0 2 3
Counsyl 0 5 0 1 0 0 1 2
Mayo Clinic Laboratories, Mayo Clinic 3466 1 0 1 1 0 1 2
Fulgent Genetics,Fulgent Genetics 0 37 0 2 0 0 0 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 2 0 0 1 2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 0 0 1 0 0 2 2
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 3 0 1 0 0 1 2
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 0 0 2 2
Undiagnosed Diseases Network,NIH 0 1 0 2 0 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 2 0 1 1 0 0 2
Myriad Women's Health, Inc. 0 5 0 1 0 0 1 2
Constitutional Genetics Lab,Leon Berard Cancer Center 0 23 0 1 0 0 1 2
Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino 0 1 0 0 1 0 1 2
Elsea Laboratory,Baylor College of Medicine 0 0 0 1 0 0 1 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 2 0 0 0 0 1 1
Centogene AG - the Rare Disease Company 0 3 0 0 0 0 1 1
PharmGKB 0 0 0 0 0 1 0 1
RettBASE 0 0 0 0 0 0 1 1
Department of Psychiatry,Nagoya University 0 0 0 1 0 0 1 1
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 1 0 0 0 1
Center for Medical Genetics Ghent,University of Ghent 0 0 0 1 0 0 1 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 0 0 0 0 1 1
Foundation Medicine, Inc. 0 0 0 0 1 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 1 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 1 0 0 1 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 0 0 1 0 0 0 1
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 0 0 0 0 0 1 1
Pediatric Highly Intensive Care Unit,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 1 0 0 1 1
Robarts Research Institute,Western University 0 0 0 1 0 0 0 1
Daryl Scott Lab,Baylor College of Medicine 0 0 0 1 0 0 1 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 0 1 0 0 1 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 1 0 0 1 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 1 0 0 1 1
Institute of Human Genetics, University of Leipzig Medical Center 0 5 0 0 1 0 0 1
Endocrine oncology group, Uppsala University 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 4 0 0 0 0 1 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 0 1 1 0 1 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 1 0 1 1 0 1 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 0 1 0 0 1 1
Flegel Lab,National Institutes of Health 0 0 0 1 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 3 0 0 0 0 1 1
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 0 0 0 1 0 0 0 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 3 0 0 0 0 1 1
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 0 0 0 0 0 0 1 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 0 1 0 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 0 0 1 0 1 1
Broad Institute Rare Disease Group, Broad Institute 0 1 0 1 0 0 0 1
Kids Research, The Children's Hospital at Westmead 0 0 0 0 0 0 1 1
Michaelson Lab,University of Iowa 0 0 0 0 0 0 1 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 0 0 0 1 0 0 1 1
University of Washington Department of Laboratory Medicine, University of Washington 0 5 0 1 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 1 0 1 0 0 1 1
CZECANCA consortium 0 9 0 0 0 0 1 1
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1
Autoinflammatory diseases unit,CHU de Montpellier 0 0 0 0 0 0 1 1
Section for Clinical Neurogenetics,University of Tübingen 0 0 0 1 0 0 0 1
Central Laboratory,The First Hospital of Lanzhou University 0 0 0 1 0 0 1 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 0 0 1 0 0 1 1
New York Genome Center 0 0 0 0 0 0 1 1
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 0 0 0 1 0 0 1 1
Sezerman Lab, Dept of Biostatistics and Bioinformatics, Acibadem Mehmet Ali Aydinlar University 0 0 0 0 0 0 1 1
Paris Brain Institute,Inserm - ICM 0 1 0 0 0 0 1 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research,University of Tasmania 0 0 0 0 1 0 1 1
Wilkie Group, Clinical Genetics Lab, WIMM,University of Oxford 0 0 0 1 0 0 1 1

All variants with conflicting interpretations #

Total variants: 1047
Download table as spreadsheet
HGVS dbSNP
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000036.2(AMPD1):c.1029G>T (p.Met343Ile) rs61752478
NM_000036.2(AMPD1):c.133C>T (p.Gln45Ter) rs17602729
NM_000036.2(AMPD1):c.959A>T (p.Lys320Ile) rs34526199
NM_000038.6(APC):c.120G>A (p.Glu40=) rs142720069
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567
NM_000038.6(APC):c.1312+3A>G rs863225311
NM_000038.6(APC):c.1419G>A (p.Gln473=) rs141579422
NM_000038.6(APC):c.1626+1G>A rs1554081934
NM_000038.6(APC):c.1690C>T (p.Arg564Ter) rs137854574
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter) rs876658355
NM_000038.6(APC):c.1867C>T (p.Arg623Trp) rs730881238
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809
NM_000038.6(APC):c.220+124C>G rs76552546
NM_000038.6(APC):c.220+2T>A rs587781809
NM_000038.6(APC):c.2547_2550del (p.Asp849fs) rs398123118
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter) rs137854575
NM_000038.6(APC):c.2805C>T (p.Tyr935=) rs137854575
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838
NM_000038.6(APC):c.3147G>A (p.Trp1049Ter) rs863225340
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287
NM_000038.6(APC):c.3264G>A (p.Lys1088=) rs114774495
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp) rs140493115
NM_000038.6(APC):c.3471G>A (p.Glu1157=) rs143927847
NM_000038.6(APC):c.3815C>G (p.Ser1272Ter) rs863225348
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000038.6(APC):c.4212C>A (p.Ser1404=) rs144655979
NM_000038.6(APC):c.423-4del rs730881230
NM_000038.6(APC):c.4326T>A (p.Pro1442=) rs67622085
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr) rs146572883
NM_000038.6(APC):c.4645C>T (p.Gln1549Ter) rs863225357
NM_000038.6(APC):c.475dup (p.Tyr159fs) rs863225361
NM_000038.6(APC):c.487C>T (p.Gln163Ter) rs863225362
NM_000038.6(APC):c.5009C>T (p.Ala1670Val) rs202228932
NM_000038.6(APC):c.5145del (p.Asp1715fs) rs863225363
NM_000038.6(APC):c.5430T>G (p.Asp1810Glu) rs149828124
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552
NM_000038.6(APC):c.5804dup (p.Ser1936fs) rs863225367
NM_000038.6(APC):c.5952T>C (p.Asn1984=) rs142019870
NM_000038.6(APC):c.645+1G>A rs863225370
NM_000038.6(APC):c.6921G>A (p.Ser2307=) rs2229993
NM_000038.6(APC):c.705A>G (p.Leu235=) rs147036141
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) rs2229995
NM_000038.6(APC):c.777G>T (p.Arg259=) rs147704593
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816
NM_000038.6(APC):c.8199A>G (p.Gln2733=) rs372365378
NM_000038.6(APC):c.904C>T (p.Arg302Ter) rs137854568
NM_000038.6(APC):c.933+30A>G rs145211300
NM_000038.6(APC):c.935dup (p.Glu313fs) rs587781451
NM_000046.5(ARSB):c.1072G>A (p.Val358Met) rs1065757
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del) rs550086186
NM_000047.2(ARSL):c.1694T>G (p.Ile565Ser) rs142375403
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000059.3(BRCA2):c.1275A>G (p.Glu425=) rs34355306
NM_000059.3(BRCA2):c.1788T>C (p.Asp596=) rs11571642
NM_000059.3(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479
NM_000059.3(BRCA2):c.2680G>A (p.Val894Ile) rs28897715
NM_000059.3(BRCA2):c.2944A>C (p.Ile982Leu) rs28897717
NM_000059.3(BRCA2):c.3262C>T (p.Pro1088Ser) rs80358572
NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.3(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664
NM_000059.3(BRCA2):c.4686A>G (p.Gln1562=) rs28897730
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.6412G>T (p.Val2138Phe) rs11571659
NM_000059.3(BRCA2):c.6739A>G (p.Ser2247Gly) rs80358896
NM_000059.3(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932
NM_000059.3(BRCA2):c.7630G>A (p.Gly2544Ser) rs587781485
NM_000059.3(BRCA2):c.865A>G (p.Asn289Asp) rs766173
NM_000059.3(BRCA2):c.9190G>A (p.Asp3064Asn) rs80359177
NM_000059.3(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074
NM_000059.4(BRCA2):c.658_659del rs80359604
NM_000059.4(BRCA2):c.68-7T>A rs81002830
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.4(BRCA2):c.7448G>A (p.Ser2483Asn) rs80358967
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000086.2(CLN3):c.*29A>G rs778438984
NM_000086.2(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_000086.2(CLN3):c.1211A>G (p.His404Arg) rs77595156
NM_000086.2(CLN3):c.125+3G>A rs775577824
NM_000108.5(DLD):c.249T>C (p.Val83=) rs2228664
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312
NM_000108.5(DLD):c.439-7T>C rs10263341
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952
NM_000108.5(DLD):c.777A>G (p.Lys259=) rs1065762
NM_000126.4(ETFA):c.186+7A>G rs184587113
NM_000144.5(FXN):c.226A>G (p.Met76Val) rs59907886
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598
NM_000147.4(FUCA1):c.29C>G (p.Pro10Arg) rs2070956
NM_000147.4(FUCA1):c.7G>C (p.Ala3Pro) rs61996282
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304
NM_000152.5(GAA):c.1327-18A>G rs2278619
NM_000152.5(GAA):c.1755-18T>C rs201399518
NM_000152.5(GAA):c.1888+10_1888+11insC rs748036956
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311
NM_000152.5(GAA):c.2331+24T>C rs2304831
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591
NM_000152.5(GAA):c.2446G>A (p.Val816Ile) rs1800314
NM_000152.5(GAA):c.2481+16G>A rs41292408
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300
NM_000152.5(GAA):c.546+18G>A rs190153982
NM_000152.5(GAA):c.547-4C>G rs3816256
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399
NM_000152.5(GAA):c.858+8G>A rs5822325
NM_000152.5(GAA):c.955+12G>A rs2252455
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000153.4(GALC):c.1302C>T (p.Ser434=) rs3213918
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748
NM_000156.6(GAMT):c.571-6G>A rs2074899
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582
NM_000157.3(GBA):c.1448T>C rs421016
NM_000157.4(GBA):c.1093G>A (p.Glu365Lys) rs2230288
NM_000157.4(GBA):c.1223C>T (p.Thr408Met) rs75548401
NM_000157.4(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_000157.4(GBA):c.701G>A (p.Gly234Glu) rs74462743
NM_000157.4(GBA):c.721G>A (p.Gly241Arg) rs409652
NM_000157.4(GBA):c.882T>G (p.His294Gln) rs367968666
NM_000159.4(GCDH):c.1143C>T (p.Ile381=) rs142553521
NM_000163.5(GHR):c.535C>T (p.Arg179Cys) rs121909362
NM_000179.2(MSH6):c.-8C>T rs565211544
NM_000179.2(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
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.1449G>T (p.Val483=) rs35590297
NM_000179.2(MSH6):c.1508C>G (p.Ser503Cys) rs63750897
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.2314C>T (p.Arg772Trp) rs63750138
NM_000179.2(MSH6):c.260+22C>G rs55927047
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
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.3246G>A (p.Pro1082=) rs3136351
NM_000179.2(MSH6):c.3384T>C (p.Tyr1128=) rs544518097
NM_000179.2(MSH6):c.3439-16C>T rs192614006
NM_000179.2(MSH6):c.3476dup (p.Tyr1159Ter) rs587782111
NM_000179.2(MSH6):c.3528_3532del (p.Leu1177fs) rs863225408
NM_000179.2(MSH6):c.3557-4del rs267608102
NM_000179.2(MSH6):c.3646+35_3646+38del rs1805181
NM_000179.2(MSH6):c.3699_3702dup (p.Leu1235fs) rs193922343
NM_000179.2(MSH6):c.3744_3773del (p.His1248_Ser1257del) rs863225412
NM_000179.2(MSH6):c.3801+17T>C rs3136365
NM_000179.2(MSH6):c.3802-40C>G rs3136367
NM_000179.2(MSH6):c.3911G>A (p.Arg1304Lys) rs34625968
NM_000179.2(MSH6):c.457+13A>G rs1800933
NM_000179.2(MSH6):c.660A>C (p.Glu220Asp) rs1800938
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) rs786201042
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000179.3(MSH6):c.1164C>T (p.His388=) rs55708305
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821
NM_000179.3(MSH6):c.1483C>T rs587779212
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005
NM_000179.3(MSH6):c.2272C>T (p.Leu758=) rs56371757
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083
NM_000179.3(MSH6):c.2555AGA[2] (p.Lys854del) rs587782858
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile) rs376799914
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val) rs63750252
NM_000179.3(MSH6):c.3716_3717del (p.Ile1239fs) rs1064794384
NM_000179.3(MSH6):c.3799_3800del (p.Met1267fs) rs267608114
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000179.3(MSH6):c.59C>T (p.Ala20Val) rs63750664
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217
NM_000199.5(SGSH):c.1139A>G (p.Gln380Arg) rs144143780
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636
NM_000202.8(IDS):c.104A>G (p.Asp35Gly) rs144081417
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) rs145807417
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298
NM_000203.5(IDUA):c.1230C>G (p.Thr410=) rs115790973
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052
NM_000203.5(IDUA):c.296C>T (p.Thr99Ile) rs147490060
NM_000203.5(IDUA):c.299+6C>T rs147498923
NM_000235.4(LIPA):c.1113A>G (p.Glu371=) rs116827211
NM_000235.4(LIPA):c.756A>C (p.Ile252=) rs145037134
NM_000243.2(MEFV):c.986G>A (p.Arg329His) rs104895112
NM_000249.3(MLH1):c.-27C>A rs587779001
NM_000249.3(MLH1):c.1039-8del rs57509953
NM_000249.3(MLH1):c.116G>A (p.Cys39Tyr) rs63751701
NM_000249.3(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.3(MLH1):c.1732-19T>A rs77120160
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000249.3(MLH1):c.1975C>T (p.Arg659Ter) rs63751310
NM_000249.3(MLH1):c.198C>T (p.Thr66=) rs61751642
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.3(MLH1):c.207+1G>A rs267607718
NM_000249.3(MLH1):c.2103+1G>A rs267607888
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.583A>T (p.Lys195Ter) rs863225383
NM_000249.3(MLH1):c.589-15C>T rs55658850
NM_000249.3(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.3(MLH1):c.702G>A (p.Glu234=) rs35908749
NM_000249.3(MLH1):c.790+10A>G rs182733777
NM_000249.3(MLH1):c.843A>C (p.Ala281=) rs146796765
NM_000249.4(MLH1):c.-28A>G rs56198082
NM_000249.4(MLH1):c.-7C>T rs104894994
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365
NM_000249.4(MLH1):c.1668-19A>G rs9876116
NM_000249.4(MLH1):c.1820T>A (p.Leu607His) rs41295284
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873
NM_000249.4(MLH1):c.394G>C (p.Asp132His) rs28930073
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049
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.1386+104C>T rs17224444
NM_000251.2(MSH2):c.1387-8G>T rs187525243
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.1886A>G (p.Gln629Arg) rs61756468
NM_000251.2(MSH2):c.1911del (p.Arg638fs) rs63750893
NM_000251.2(MSH2):c.2006-4G>A rs369853630
NM_000251.2(MSH2):c.20del (p.Glu7fs) rs267607915
NM_000251.2(MSH2):c.2205C>T (p.Ile735=) rs533553381
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_2508del (p.Asn835fs) rs63751447
NM_000251.2(MSH2):c.317G>A (p.Arg106Lys) rs41295286
NM_000251.2(MSH2):c.4G>A (p.Ala2Thr) rs63750466
NM_000251.2(MSH2):c.557A>G (p.Asn186Ser) rs151129360
NM_000251.2(MSH2):c.871del (p.Glu290_Leu291insTer) rs1064794809
NM_000251.2(MSH2):c.965G>A (p.Gly322Asp) rs4987188
NM_000251.2(MSH2):c.984C>T (p.Ala328=) rs4987189
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.1982_1985del rs587779120
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577
NM_000263.4(NAGLU):c.764+19C>G rs77738617
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr) rs1338658857
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081
NM_000271.5(NPC1):c.66A>G (p.Ser22=) rs144415945
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695
NM_000287.4(PEX6):c.330C>G (p.Thr110=) rs140486558
NM_000288.4(PEX7):c.748-5del rs563675060
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507
NM_000289.6(PFKM):c.747+24T>G rs149600978
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter) rs10250779
NM_000290.4(PGAM2):c.366G>A (p.Pro122=) rs143830182
NM_000292.3(PHKA2):c.112G>C (p.Glu38Gln) rs17313469
NM_000292.3(PHKA2):c.1246G>A (p.Gly416Arg) rs16980929
NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val) rs143732206
NM_000292.3(PHKA2):c.3282+13G>A rs200925279
NM_000293.3(PHKB):c.2244C>G (p.Leu748=) rs34717357
NM_000293.3(PHKB):c.2309A>G (p.Tyr770Cys) rs16945474
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp) rs12918964
NM_000293.3(PHKB):c.318T>C (p.Asp106=) rs17738933
NM_000293.3(PHKB):c.555G>T (p.Met185Ile) rs56257827
NM_000293.3(PHKB):c.574A>G (p.Ile192Val) rs117218785
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000310.3(PPT1):c.*6G>A rs113082671
NM_000310.3(PPT1):c.363-18C>G rs143235344
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_000310.4(PPT1):c.363-4G>A rs117284255
NM_000314.7(PTEN):c.-545_-543GGC[6] rs34413673
NM_000314.7(PTEN):c.-837C>T rs786201900
NM_000314.7(PTEN):c.132C>T (p.Gly44=) rs150651961
NM_000314.7(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.7(PTEN):c.802-51_802-14del rs557364463
NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=) rs5398
NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile) rs5400
NM_000340.2(SLC2A2):c.594G>A (p.Thr198=) rs5404
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser) rs61737992
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs) rs387906256
NM_000382.3(ALDH3A2):c.465A>G (p.Leu155=) rs149865400
NM_000382.3(ALDH3A2):c.563C>T (p.Ala188Val) rs115977487
NM_000391.4(TPP1):c.1044C>T (p.Ala348=) rs35706972
NM_000391.4(TPP1):c.1076-18A>G rs78676565
NM_000391.4(TPP1):c.1266+5G>A rs1800753
NM_000391.4(TPP1):c.1494C>T (p.Pro498=) rs117942457
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746
NM_000391.4(TPP1):c.381-10dup rs146315473
NM_000391.4(TPP1):c.441A>G (p.Glu147=) rs2555170
NM_000391.4(TPP1):c.887-6del rs35039601
NM_000396.4(CTSK):c.675A>G (p.Arg225=) rs41271965
NM_000401.3(EXT2):c.1118T>A (p.Val373Asp) rs371996957
NM_000401.3(EXT2):c.2015C>T (p.Thr672Met) rs138722406
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) rs7637099
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp) rs35289681
NM_000404.4(GLB1):c.34T>C (p.Leu12=) rs7614776
NM_000404.4(GLB1):c.464T>G (p.Leu155Arg) rs376710410
NM_000414.4(HSD17B4):c.1210-11C>G rs779466683
NM_000414.4(HSD17B4):c.1767+8T>C rs190659146
NM_000434.4(NEU1):c.649G>A (p.Val217Met) rs28940583
NM_000436.4(OXCT1):c.480G>T (p.Gly160=) rs78432029
NM_000455.4(STK11):c.*8C>T rs587782259
NM_000455.4(STK11):c.464+9G>A rs376313955
NM_000455.4(STK11):c.734+20G>A rs375315233
NM_000455.4(STK11):c.920+7G>C rs2075607
NM_000455.4(STK11):c.945G>A (p.Pro315=) rs376329042
NM_000455.4(STK11):c.970C>G (p.Pro324Ala) rs549474196
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp) rs368466538
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe) rs142838522
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857
NM_000466.3(PEX1):c.473-3C>T rs150576000
NM_000487.6(ARSA):c.1002C>T (p.Ser334=) rs147027229
NM_000487.6(ARSA):c.1149C>T (p.Asp383=) rs6151425
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000512.5(GALNS):c.1002+17C>T rs78494153
NM_000512.5(GALNS):c.1413C>T (p.Val471=) rs73251084
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe) rs151296605
NM_000512.5(GALNS):c.633+22T>C rs201579340
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe) rs147155126
NM_000521.4(HEXB):c.619A>G (p.Ile207Val) rs10805890
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=) rs117880912
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser) rs35836657
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys) rs141212446
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=) rs148108322
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu) rs117843968
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=) rs72896268
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5]) rs3838786
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=) rs147258619
NM_000543.5(SMPD1):c.1589G>C (p.Gly530Ala) rs35122256
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile) rs2723669
NM_000546.5(TP53):c.1014C>T (p.Phe338=) rs150293825
NM_000546.5(TP53):c.18A>C (p.Ser6=) rs573130482
NM_000546.5(TP53):c.404G>A (p.Cys135Tyr) rs587781991
NM_000546.5(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.5(TP53):c.711G>A (p.Met237Ile) rs587782664
NM_000546.5(TP53):c.74+38C>G rs1642785
NM_000546.5(TP53):c.772G>A (p.Glu258Lys) rs121912652
NM_000546.5(TP53):c.836G>A (p.Gly279Glu) rs1064793881
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu) rs148527903
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166
NM_000642.3(AGL):c.1875G>T (p.Thr625=) rs141944878
NM_000642.3(AGL):c.2802A>C (p.Ala934=) rs34230588
NM_000642.3(AGL):c.3260-19G>A rs140333425
NM_000642.3(AGL):c.3260-20T>C rs17121560
NM_000642.3(AGL):c.3849T>C (p.Ala1283=) rs28730706
NM_000642.3(AGL):c.4162-11G>A rs184309460
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399
NM_000925.4(PDHB):c.198A>G (p.Ala66=) rs138621975
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551
NM_001002755.3(NFU1):c.286C>T (p.Arg96Cys) rs74637005
NM_001005463.3(EBF3):c.487C>T (p.Arg163Trp) rs1057519092
NM_001008215.3(COA5):c.*3C>G rs372867268
NM_001008215.3(COA5):c.26C>T (p.Pro9Leu) rs11537555
NM_001011719.1(ARSH):c.1072C>T (p.Arg358Cys) rs146832237
NM_001040108.1(MLH3):c.4242+13C>G rs77157930
NM_001040436.3(YARS2):c.291C>T (p.Gly97=) rs11539444
NM_001040436.3(YARS2):c.870T>C (p.Val290=) rs142067801
NM_001040436.3(YARS2):c.930G>A (p.Pro310=) rs147551647
NM_001040716.2(PC):c.216G>A (p.Thr72=) rs117711892
NM_001040716.2(PC):c.616G>T (p.Val206Leu) rs147945506
NM_001044.5(SLC6A3):c.499C>T (p.Leu167Phe) rs71653633
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) rs3219489
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys) rs121908578
NM_001080449.3(DNA2):c.1058-6del rs201474338
NM_001080449.3(DNA2):c.1796G>A (p.Arg599His) rs201999986
NM_001080449.3(DNA2):c.2153G>T (p.Cys718Phe) rs147096750
NM_001080449.3(DNA2):c.2430C>G (p.Phe810Leu) rs73274785
NM_001083614.2(EARS2):c.16A>G (p.Arg6Gly) rs113722817
NM_001083614.2(EARS2):c.402C>T (p.Thr134=) rs116657756
NM_001098.3(ACO2):c.192A>C (p.Thr64=) rs137831
NM_001098.3(ACO2):c.2050C>T (p.Arg684Trp) rs768950391
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938
NM_001098.3(ACO2):c.670C>T (p.Leu224=) rs1799932
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_001126049.2(KLLN):c.-840G>A rs563841270
NM_001126049.2(KLLN):c.-955G>T rs587781128
NM_001126121.2(SLC25A19):c.339T>C (p.Tyr113=) rs7213318
NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=) rs4789164
NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_001127649.3(PEX26):c.*10C>T rs117472525
NM_001128425.1(MUTYH):c.389-4C>A rs767717597
NM_001131023.1(PEX5):c.649G>C (p.Val217Leu) rs149102738
NM_001136193.2(FASTKD2):c.149A>G (p.Lys50Arg) rs141447598
NM_001136193.2(FASTKD2):c.2018A>G (p.Asn673Ser) rs142211558
NM_001136193.2(FASTKD2):c.29G>C (p.Ser10Thr) rs147727753
NM_001151.4(SLC25A4):c.567T>C (p.Ala189=) rs149101873
NM_001166244.1(HPSE2):c.1291_1292del (p.Asn431fs) rs397515338
NM_001167617.2(MLH1):c.*32_*34CTT[1] rs193922366
NM_001167617.2(MLH1):c.1852G>A (p.Val618Met) rs35831931
NM_001167617.2(MLH1):c.1958_1959del (p.Lys653fs) rs267607901
NM_001167734.1(VARS2):c.2383G>A (p.Val795Met) rs55865499
NM_001167734.1(VARS2):c.513G>A (p.Met171Ile) rs141408930
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324
NM_001195248.2(APTX):c.484-25_484-3del rs779869639
NM_001195248.2(APTX):c.484-25_484-5del rs200922655
NM_001195248.2(APTX):c.484-3del rs373304582
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu) rs141493373
NM_001199138.2(NLRC4):c.2357G>T (p.Gly786Val) rs149451729
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln) rs144681140
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796
NM_001271208.2(NEB):c.3623T>C (p.Ile1208Thr) rs201141958
NM_001271208.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598
NM_001271696.3(ABCB7):c.1320T>C (p.Asp440=) rs45598734
NM_001271696.3(ABCB7):c.201G>C (p.Gln67His) rs114142266
NM_001271696.3(ABCB7):c.246+1G>A rs61323727
NM_001271696.3(ABCB7):c.938G>A (p.Arg313Gln) rs147584361
NM_001271696.3(ABCB7):c.945-7C>T rs5937938
NM_001278074.1(COL5A1):c.61C>T (p.Pro21Ser) rs548525119
NM_001278716.2(FBXL4):c.1067del (p.Gly356fs) rs1554219474
NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro) rs201989042
NM_001278716.2(FBXL4):c.978A>G (p.Gln326=) rs61744041
NM_001281492.1(MSH6):c.2647_2651del (p.Lys883fs) rs587782712
NM_001281492.1(MSH6):c.3590_3593dup (p.Leu1200fs) rs1553333738
NM_001281492.1(MSH6):c.778_780delinsAA (p.Asp260fs) rs863225398
NM_001281492.1(MSH6):c.962del (p.Phe321fs) rs869312769
NM_001289910.1(IDH2):c.840C>T (p.Ser280=) rs61737003
NM_001289910.1(IDH2):c.894C>T (p.Thr298=) rs11540478
NM_001303.4(COX10):c.682C>T (p.Arg228Cys) rs114521946
NM_001303.4(COX10):c.929-7C>T rs62052075
NM_001303.4(COX10):c.981C>T (p.Asn327=) rs146175179
NM_001303.4(COX10):c.982G>A (p.Ala328Thr) rs777911169
NM_001304718.2(PTEN):c.-667_-666del rs587776671
NM_001308211.1(EARS2):c.263_264delinsAA (p.Ala88Glu) rs1555504721
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228
NM_001354630.1(MLH1):c.1732-878_1732-877delinsGC rs35502531
NM_001356.4(DDX3X):c.1486G>A (p.Val496Met) rs1555954154
NM_001363118.2(SLC52A2):c.1089G>A (p.Pro363=) rs146292053
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217
NM_001364905.1(LRBA):c.7564A>C (p.Thr2522Pro) rs62346982
NM_001369.2(DNAH5):c.1730G>C (p.Arg577Thr) rs397515541
NM_001370595.1(COA8):c.476+7G>A rs114895750
NM_001382.4(DPAGT1):c.250A>C (p.Lys84Gln) rs112355069
NM_001698.2(AUH):c.483A>C (p.Ile161=) rs7874056
NM_001698.2(AUH):c.824C>T (p.Ala275Val) rs748318386
NM_001698.2(AUH):c.927A>G (p.Glu309=) rs78739693
NM_001739.2(CA5A):c.749A>G (p.Glu250Gly) rs146136907
NM_001849.3(COL6A2):c.2593_2608dup (p.Asp870fs) rs1555877258
NM_001909.5(CTSD):c.1072-7G>A rs149019571
NM_001909.5(CTSD):c.1077G>A (p.Ser359=) rs138940129
NM_001909.5(CTSD):c.1215C>A (p.Gly405=) rs138733377
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571
NM_001909.5(CTSD):c.231C>T (p.Ala77=) rs2230067
NM_001909.5(CTSD):c.353-12C>T rs141523461
NM_001909.5(CTSD):c.465T>C (p.Thr155=) rs11555039
NM_001909.5(CTSD):c.639C>G (p.Pro213=) rs146073498
NM_001909.5(CTSD):c.828-19A>C rs200047861
NM_001916.5(CYC1):c.227T>C (p.Met76Thr) rs144257411
NM_001916.5(CYC1):c.960A>C (p.Ala320=) rs35387134
NM_001931.5(DLAT):c.128C>T (p.Ala43Val) rs2303436
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn) rs10891314
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln) rs61757217
NM_001931.5(DLAT):c.953T>C (p.Val318Ala) rs627441
NM_001953.5(TYMP):c.1074A>G (p.Arg358=) rs372847627
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr) rs112723255
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) rs11479
NM_001953.5(TYMP):c.1443G>A (p.Gln481=) rs377497287
NM_001953.5(TYMP):c.735G>A (p.Gln245=) rs139223629
NM_001953.5(TYMP):c.831G>A (p.Leu277=) rs8141558
NM_001953.5(TYMP):c.972C>T (p.Ala324=) rs131804
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu) rs57474185
NM_002055.5(GFAP):c.462-13dup rs572562362
NM_002055.5(GFAP):c.720G>T (p.Thr240=) rs2229012
NM_002076.4(GNS):c.21C>G (p.Ala7=) rs61743823
NM_002087.3(GRN):c.264+7G>A rs60100877
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr) rs63750043
NM_002087.4(GRN):c.99C>T (p.Asp33=) rs63750742
NM_002294.3(LAMP2):c.-32_-24GTCGCCGCC[1] rs193922648
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265
NM_002488.4(NDUFA2):c.129G>A (p.Glu43=) rs73271536
NM_002495.4(NDUFS4):c.12G>C (p.Val4=) rs2279516
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=) rs31304
NM_002495.4(NDUFS4):c.312A>G (p.Arg104=) rs31303
NM_002496.4(NDUFS8):c.255G>A (p.Pro85=) rs144125742
NM_002541.4(OGDH):c.936-7G>A rs116644435
NM_002635.4(SLC25A3):c.925+4G>A rs201617025
NM_002637.4(PHKA1):c.3043C>T (p.Arg1015Cys) rs782191011
NM_002693.2(POLG):c.128A>G (p.Gln43Arg) rs28567406
NM_002693.2(POLG):c.159A>G (p.Gln53=) rs587781118
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.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.3573G>T (p.Lys1191Asn) rs1085307741
NM_002693.2(POLG):c.3597C>A (p.Thr1199=) rs2307443
NM_002693.2(POLG):c.803G>C (p.Gly268Ala) rs61752784
NM_002693.2(POLG):c.856-17CTC[4] rs200056162
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[13] (p.Gln54_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[9] (p.Gln54_Gln55del) rs41550117
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.3(POLG):c.2243G>C rs113994097
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441
NM_002778.4(PSAP):c.1350+5G>A rs11000016
NM_002778.4(PSAP):c.1351-14A>G rs4747203
NM_002858.4(ABCD3):c.1356A>G (p.Gly452=) rs147293586
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927
NM_002863.5(PYGL):c.2178-33dup rs11414268
NM_002979.5(SCP2):c.675-6T>C rs115815213
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003172.4(SURF1):c.54+10G>A rs587598397
NM_003366.4(UQCRC2):c.548G>A (p.Arg183Gln) rs4850
NM_003465.3(CHIT1):c.585C>T (p.Tyr195=) rs114168492
NM_003477.3(PDHX):c.1333T>G (p.Phe445Val) rs147948716
NM_003477.3(PDHX):c.70C>G (p.Arg24Gly) rs11539201
NM_003482.3(KMT2D):c.15797G>A (p.Arg5266His) rs201481646
NM_003560.4(PLA2G6):c.238G>A (p.Ala80Thr) rs121908685
NM_003705.5(SLC25A12):c.1172-10del rs535710884
NM_003705.5(SLC25A12):c.1338A>C (p.Pro446=) rs149278617
NM_003705.5(SLC25A12):c.728G>A (p.Arg243Lys) rs35881803
NM_003793.4(CTSF):c.126C>T (p.Pro42=) rs1044522
NM_003793.4(CTSF):c.1368C>T (p.Asp456=) rs148155987
NM_003793.4(CTSF):c.939G>A (p.Gly313=) rs114727660
NM_003849.4(SUCLG1):c.900C>T (p.Ala300=) rs113840224
NM_003849.4(SUCLG1):c.98-13_98-11del rs56733272
NM_004035.7(ACOX1):c.1771C>T (p.Arg591Cys) rs35629489
NM_004035.7(ACOX1):c.921G>A (p.Arg307=) rs79677613
NM_004046.6(ATP5F1A):c.25G>A (p.Ala9Thr) rs141639003
NM_004046.6(ATP5F1A):c.667A>G (p.Ile223Val) rs77958705
NM_004085.4(TIMM8A):c.-6C>T rs180806413
NM_004208.4(AIFM1):c.1833T>C (p.His611=) rs73556209
NM_004329.2(BMPR1A):c.1560G>A (p.Thr520=) rs142775086
NM_004329.2(BMPR1A):c.4C>A (p.Pro2Thr) rs11528010
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056
NM_004360.5(CDH1):c.-71C>G rs34033771
NM_004360.5(CDH1):c.1145del (p.Gly382fs) rs1555515863
NM_004360.5(CDH1):c.1223C>T (p.Ala408Val) rs138135866
NM_004360.5(CDH1):c.1272C>T (p.Val424=) rs61756284
NM_004360.5(CDH1):c.1353T>C (p.Ile451=) rs114192597
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240
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.1937-13T>C rs2276330
NM_004360.5(CDH1):c.2100del (p.Val701fs) rs1555517136
NM_004360.5(CDH1):c.2292C>T (p.Asp764=) rs61747636
NM_004360.5(CDH1):c.2440-6C>G rs139757930
NM_004360.5(CDH1):c.2520C>T (p.Ser840=) rs140328601
NM_004360.5(CDH1):c.2634C>T (p.Gly878=) rs2229044
NM_004360.5(CDH1):c.324A>G (p.Arg108=) rs116542018
NM_004360.5(CDH1):c.33G>C (p.Leu11=) rs730881654
NM_004360.5(CDH1):c.345G>A (p.Thr115=) rs1801023
NM_004360.5(CDH1):c.48+6C>T rs3743674
NM_004360.5(CDH1):c.532-18C>T rs200673941
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691
NM_004453.4(ETFDH):c.1375C>T (p.His459Tyr) rs200111698
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=) rs77484245
NM_004453.4(ETFDH):c.832-10T>G rs200911913
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316
NM_004544.4(NDUFA10):c.105A>G (p.Lys35=) rs2083411
NM_004544.4(NDUFA10):c.548-9A>G rs147876332
NM_004544.4(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_004553.5(NDUFS6):c.96C>A (p.Val32=) rs140619622
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter) rs61752842
NM_004565.3(PEX14):c.768G>A (p.Val256=) rs36083022
NM_004589.4(SCO1):c.16C>G (p.Leu6Val) rs61753148
NM_004614.5(TK2):c.122C>A (p.Pro41His) rs201904720
NM_004614.5(TK2):c.231+10C>T rs187517309
NM_004614.5(TK2):c.94C>T (p.Arg32Trp) rs200121712
NM_004655.4(AXIN2):c.1168A>G (p.Ser390Gly) rs139871607
NM_004655.4(AXIN2):c.1573C>G (p.Pro525Ala) rs73346297
NM_004655.4(AXIN2):c.1713-18G>A rs147664289
NM_004655.4(AXIN2):c.1985T>C (p.Leu662Pro) rs142476324
NM_004655.4(AXIN2):c.2052G>A (p.Ala684=) rs200573256
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr) rs145007501
NM_004655.4(AXIN2):c.2282C>A (p.Ala761Asp) rs79732150
NM_004655.4(AXIN2):c.2285G>A (p.Ser762Asn) rs117688560
NM_004655.4(AXIN2):c.270C>T (p.Asp90=) rs141655687
NM_004937.3(CTNS):c.462-7C>A rs189632527
NM_004947.5(DOCK3):c.5020A>T (p.Met1674Leu) rs142515812
NM_005002.5(NDUFA9):c.722A>G (p.Tyr241Cys) rs139012735
NM_005005.3(NDUFB9):c.201C>T (p.Ala67=) rs142579814
NM_005006.7(NDUFS1):c.1029T>G (p.Gly343=) rs72944827
NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=) rs1801318
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826
NM_005006.7(NDUFS1):c.966G>T (p.Ala322=) rs1127566
NM_005076.5(CNTN2):c.1405C>A (p.Pro469Thr) rs147693556
NM_005141.5(FGB):c.794C>T (p.Pro265Leu) rs6054
NM_005188.3(CBL):c.1112A>C (p.Tyr371Ser) rs387906666
NM_005359.5(SMAD4):c.1351_1375del25 (p.Ala451Leufs) rs587780124
NM_005359.6(SMAD4):c.*11C>T rs11663402
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618
NM_005359.6(SMAD4):c.455-6A>G rs181178864
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys) rs140743238
NM_005359.6(SMAD4):c.693C>T (p.Gly231=) rs765597059
NM_005566.4(LDHA):c.608G>C (p.Gly203Ala) rs34305721
NM_005609.4(PYGM):c.1092+6dup rs368602234
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786
NM_005609.4(PYGM):c.1569C>G (p.Leu523=) rs114138772
NM_005609.4(PYGM):c.1621-19del rs571976523
NM_005670.4(EPM2A):c.159C>G (p.Ala53=) rs2235482
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys) rs187930476
NM_005670.4(EPM2A):c.24G>A (p.Val8=) rs587780938
NM_005670.4(EPM2A):c.393G>A (p.Glu131=) rs61758155
NM_005670.4(EPM2A):c.402G>A (p.Gly134=) rs35230590
NM_005726.6(TSFM):c.797T>A (p.Leu266His) rs146777264
NM_005763.4(AASS):c.1678C>T (p.Pro560Ser) rs74882337
NM_005763.4(AASS):c.2459A>G (p.Lys820Arg) rs73441002
NM_005908.4(MANBA):c.757G>A (p.Val253Ile) rs227368
NM_005984.5(SLC25A1):c.279T>C (p.Gly93=) rs2070255
NM_005984.5(SLC25A1):c.894T>C (p.Asp298=) rs144180074
NM_006012.4(CLPP):c.368-8G>A rs143053584
NM_006012.4(CLPP):c.801G>A (p.Ala267=) rs112620134
NM_006214.4(PHYH):c.135-2A>G rs201578674
NM_006214.4(PHYH):c.153C>T (p.Asn51=) rs1747682
NM_006214.4(PHYH):c.636A>G (p.Thr212=) rs473407
NM_006214.4(PHYH):c.717C>T (p.Tyr239=) rs142720126
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser) rs28938169
NM_006294.4(UQCRB):c.195G>A (p.Arg65=) rs11558865
NM_006351.4(TIMM44):c.1114A>G (p.Ile372Val) rs11542187
NM_006351.4(TIMM44):c.138A>G (p.Pro46=) rs145509783
NM_006351.4(TIMM44):c.184G>A (p.Gly62Ser) rs144317041
NM_006351.4(TIMM44):c.69A>G (p.Gln23=) rs35992331
NM_006351.4(TIMM44):c.753C>G (p.Asn251Lys) rs118048213
NM_006432.4(NPC2):c.442-4A>C rs114950106
NM_006432.4(NPC2):c.88G>A (p.Val30Met) rs151220873
NM_006493.4(CLN5):c.-144C>T rs77416795
NM_006493.4(CLN5):c.-76A>G rs7987664
NM_006493.4(CLN5):c.1041T>C (p.Pro347=) rs36038805
NM_006493.4(CLN5):c.173+8C>T rs9565308
NM_006493.4(CLN5):c.381T>G (p.Thr127=) rs34481987
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001
NM_006493.4(CLN5):c.808_823del (p.Gly270fs) rs386833983
NM_006493.4(CLN5):c.87C>G (p.Ala29=) rs138037471
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg) rs1800209
NM_006567.5(FARS2):c.737C>T (p.Thr246Met) rs116567033
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.2314C>T (p.Leu772Phe) rs117182113
NM_006922.4(SCN3A):c.2077A>G (p.Met693Val) rs138331141
NM_007103.4(NDUFV1):c.348C>T (p.Asn116=) rs139824241
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007208.4(MRPL3):c.782T>C (p.Met261Thr) rs2291381
NM_007208.4(MRPL3):c.931G>A (p.Gly311Ser) rs148679749
NM_007215.4(POLG2):c.927C>T (p.His309=) rs73332195
NM_007294.3(BRCA1):c.301+8T>C rs80358101
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu) rs80357147
NM_007294.4(BRCA1):c.21C>T (p.Arg7=) rs149402012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys) rs80356923
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met) rs55815649
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967
NM_007294.4(BRCA1):c.5074+6C>G rs80358032
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg) rs80357322
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675
NM_012062.5(DNM1L):c.*21_*22delinsCT rs34421401
NM_012062.5(DNM1L):c.966C>T (p.Tyr322=) rs118169466
NM_012208.4(HARS2):c.324T>C (p.Tyr108=) rs143687204
NM_012208.4(HARS2):c.868C>T (p.Leu290=) rs73273316
NM_012222.2(MUTYH):c.1440C>T (p.Thr480=) rs150269172
NM_012222.2(MUTYH):c.1535C>T (p.Ser512Phe) rs140118273
NM_012222.2(MUTYH):c.64G>A (p.Val22Met) rs3219484
NM_012434.5(SLC17A5):c.1111+7G>A rs146729568
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=) rs472294
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp) rs139145143
NM_014049.5(ACAD9):c.1430G>A (p.Arg477Gln) rs4494951
NM_014049.5(ACAD9):c.453+8A>G rs199919500
NM_014165.4(NDUFAF4):c.420G>A (p.Gln140=) rs11402
NM_014165.4(NDUFAF4):c.430T>C (p.Leu144=) rs6684
NM_014236.4(GNPAT):c.569-11del rs199905093
NM_014297.5(ETHE1):c.227-9C>G rs199921503
NM_014297.5(ETHE1):c.61G>T (p.Ala21Ser) rs116440799
NM_014301.4(ISCU):c.-121G>A rs112552261
NM_014301.4(ISCU):c.400C>G (p.Pro134Ala) rs113036584
NM_014317.5(PDSS1):c.589A>G (p.Lys197Glu) rs116424900
NM_014324.6(AMACR):c.25G>A (p.Val9Met) rs3195676
NM_014324.6(AMACR):c.524G>A (p.Gly175Asp) rs10941112
NM_014324.6(AMACR):c.602T>C (p.Leu201Ser) rs2287939
NM_014324.6(AMACR):c.717G>T (p.Gln239His) rs34677
NM_014324.6(AMACR):c.829G>A (p.Glu277Lys) rs2278008
NM_014324.6(AMACR):c.837G>A (p.Thr279=) rs35655488
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala) rs17078605
NM_014363.6(SACS):c.10338G>A (p.Gln3446=) rs2737701
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) rs139517699
NM_014363.6(SACS):c.1066A>C (p.Ile356Leu) rs148286091
NM_014363.6(SACS):c.12304T>C (p.Leu4102=) rs2737699
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954
NM_014363.6(SACS):c.1656A>G (p.Leu552=) rs1536365
NM_014363.6(SACS):c.1906C>T (p.Arg636Trp) rs201752905
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr) rs17325713
NM_014363.6(SACS):c.6195T>C (p.Ile2065=) rs4143768
NM_014363.6(SACS):c.6240T>C (p.Val2080=) rs550680855
NM_014363.6(SACS):c.696T>A (p.Asn232Lys) rs2031640
NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser) rs78239814
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929
NM_014363.6(SACS):c.972C>A (p.Asp324Glu) rs546652936
NM_014363.6(SACS):c.9981T>C (p.Ala3327=) rs2737700
NM_014402.5(UQCRQ):c.108C>G (p.Pro36=) rs36093416
NM_014861.3(ATP2C2):c.304G>A (p.Val102Met) rs78887288
NM_015340.4(LARS2):c.1383T>C (p.Ile461=) rs35347543
NM_015340.4(LARS2):c.1565C>A (p.Thr522Asn) rs199589947
NM_015340.4(LARS2):c.945G>C (p.Ser315=) rs145135580
NM_015340.4(LARS2):c.972C>A (p.His324Gln) rs71645922
NM_015346.4(ZFYVE26):c.7055C>T (p.Thr2352Ile) rs151166497
NM_015488.5(PNKD):c.265G>A (p.Gly89Arg) rs147259983
NM_015560.2(OPA1):c.1146A>G (p.Ile382Met) rs143319805
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_015697.8(COQ2):c.196G>T (p.Val66Leu) rs6818847
NM_015697.8(COQ2):c.30G>A (p.Arg10=) rs183012002
NM_015697.8(COQ2):c.320G>C (p.Ser107Thr) rs550949678
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_016013.4(NDUFAF1):c.-6T>G rs180730324
NM_016013.4(NDUFAF1):c.26G>A (p.Arg9His) rs1899
NM_016013.4(NDUFAF1):c.708G>A (p.Met236Ile) rs150539399
NM_016013.4(NDUFAF1):c.92G>T (p.Arg31Leu) rs3204853
NM_016013.4(NDUFAF1):c.941C>G (p.Ala314Gly) rs12900702
NM_016035.5(COQ4):c.318G>A (p.Ser106=) rs2270203
NM_016035.5(COQ4):c.424G>A (p.Ala142Thr) rs34043652
NM_016065.4(MRPS16):c.389C>G (p.Thr130Arg) rs117510230
NM_016098.4(MPC1):c.106C>A (p.Leu36Ile) rs11557064
NM_016098.4(MPC1):c.30G>A (p.Ala10=) rs79498685
NM_016292.3(TRAP1):c.1330T>A (p.Tyr444Asn) rs61756351
NM_016292.3(TRAP1):c.2053G>A (p.Asp685Asn) rs61756352
NM_016292.3(TRAP1):c.757A>G (p.Ile253Val) rs113476582
NM_016335.5(PRODH):c.650G>A (p.Arg217His) rs148375080
NM_016360.4(TACO1):c.498T>C (p.His166=) rs17549732
NM_017547.4(FOXRED1):c.1139A>G (p.His380Arg) rs7116126
NM_017775.4(TTC19):c.146C>T (p.Pro49Leu) rs537063695
NM_017827.4(SARS2):c.1530_1538dup (p.Leu511_Gly513dup) rs551671819
NM_017827.4(SARS2):c.248C>T (p.Ser83Leu) rs34050897
NM_017866.6(TMEM70):c.100G>C (p.Ala34Pro) rs8075
NM_017866.6(TMEM70):c.346C>G (p.Leu116Val) rs61732273
NM_017866.6(TMEM70):c.580G>A (p.Val194Met) rs77410280
NM_017866.6(TMEM70):c.748A>G (p.Thr250Ala) rs1053079
NM_017866.6(TMEM70):c.777C>G (p.Asp259Glu) rs1053077
NM_017882.3(CLN6):c.298-6C>T rs117038427
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768
NM_017882.3(CLN6):c.486+8C>T rs149692285
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) rs151295143
NM_017882.3(CLN6):c.840G>A (p.Leu280=) rs148949069
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865
NM_018060.4(IARS2):c.1564A>G (p.Ile522Val) rs11800305
NM_018060.4(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_018122.5(DARS2):c.1642C>A (p.Leu548Met) rs149660059
NM_018122.5(DARS2):c.228-10del rs374122386
NM_018122.5(DARS2):c.228-10dup rs374122386
NM_018122.5(DARS2):c.228-20dup rs143246542
NM_018127.7(ELAC2):c.155C>T (p.Ser52Phe) rs9895963
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) rs119484086
NM_018328.4(MBD5):c.236G>A (p.Gly79Glu) rs34995577
NM_018941.3(CLN8):c.685C>G (p.Pro229Ala) rs150047904
NM_020070.4(IGLL1):c.437C>T (p.Thr146Met) rs112775194
NM_020191.3(MRPS22):c.201A>G (p.Lys67=) rs11556243
NM_020191.3(MRPS22):c.617C>T (p.Thr206Ile) rs76148008
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) rs55958233
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=) rs17849927
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=) rs12593
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=) rs3738725
NM_020247.5(COQ8A):c.63G>A (p.Ala21=) rs11549709
NM_020247.5(COQ8A):c.67G>A (p.Val23Met) rs35582308
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129
NM_020320.5(RARS2):c.155A>T (p.Lys52Ile) rs73496064
NM_020320.5(RARS2):c.1704A>G (p.Lys568=) rs8802
NM_020320.5(RARS2):c.456T>C (p.Asn152=) rs141374913
NM_020320.5(RARS2):c.606C>T (p.Leu202=) rs75794097
NM_020320.5(RARS2):c.78A>C (p.Thr26=) rs138360045
NM_020320.5(RARS2):c.872A>G (p.Lys291Arg) rs17850652
NM_020320.5(RARS2):c.991A>G (p.Ile331Val) rs3757370
NM_020381.4(PDSS2):c.667G>A (p.Val223Ile) rs35555197
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188
NM_020458.4(TTC7A):c.437G>T (p.Arg146Leu) rs61746139
NM_020533.3(MCOLN1):c.1360-13G>A rs2305888
NM_020533.3(MCOLN1):c.782C>T (p.Thr261Met) rs73003348
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.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_020686.6(ABAT):c.1269+4A>C rs183947905
NM_020745.4(AARS2):c.2188G>A (p.Val730Met) rs35623954
NM_020745.4(AARS2):c.2253G>A (p.Gly751=) rs78397386
NM_021074.5(NDUFV2):c.201A>T (p.Val67=) rs41274300
NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala) rs906807
NM_021830.5(TWNK):c.639C>T (p.Gly213=) rs11542130
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409
NM_021957.4(GYS2):c.2005G>A (p.Asp669Asn) rs142656537
NM_021957.4(GYS2):c.280G>A (p.Ala94Thr) rs34225615
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691
NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=) rs200916673
NM_022089.4(ATP13A2):c.3144C>G (p.Thr1048=) rs56126202
NM_022089.4(ATP13A2):c.3235+17G>A rs56146840
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr) rs151181674
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln) rs56367069
NM_022445.4(TPK1):c.98G>A (p.Arg33His) rs77358162
NM_023036.6(DNAI2):c.1715C>T (p.Pro572Leu) rs151241589
NM_024079.5(ALG8):c.251A>G (p.Tyr84Cys) rs61995921
NM_024079.5(ALG8):c.478+1G>A rs139832787
NM_024120.5(NDUFAF5):c.222+8C>G rs113659919
NM_024120.5(NDUFAF5):c.582C>T (p.Leu194=) rs117002283
NM_024306.5(FA2H):c.232G>A (p.Glu78Lys) rs527421775
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709
NM_024312.5(GNPTAB):c.1422G>A (p.Gly474=) rs775742250
NM_024407.5(NDUFS7):c.54-5G>A rs775718887
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu) rs1142530
NM_024728.2(SUGCT):c.1214C>T (p.Thr405Met) rs192063213
NM_024876.4(COQ8B):c.1055C>G (p.Thr352Arg) rs36012476
NM_024876.4(COQ8B):c.1347C>T (p.Phe449=) rs142420160
NM_024876.4(COQ8B):c.187C>T (p.Arg63Trp) rs113358395
NM_024876.4(COQ8B):c.232C>T (p.Arg78Cys) rs11538384
NM_024876.4(COQ8B):c.381G>A (p.Gly127=) rs55895642
NM_024884.3(L2HGDH):c.1177A>G (p.Thr393Ala) rs150157112
NM_024884.3(L2HGDH):c.159C>T (p.Ile53=) rs2297995
NM_024884.3(L2HGDH):c.53T>G (p.Leu18Arg) rs2275591
NM_024884.3(L2HGDH):c.6G>T (p.Val2=) rs113626637
NM_024884.3(L2HGDH):c.840A>G (p.Pro280=) rs72683923
NM_024884.3(L2HGDH):c.8C>T (p.Pro3Leu) rs148241854
NM_024996.5(GFM1):c.1601+9G>C rs77186707
NM_024996.5(GFM1):c.1990G>A (p.Val664Ile) rs62288347
NM_025074.7(FRAS1):c.11717T>C (p.Ile3906Thr) rs61748814
NM_025074.7(FRAS1):c.5046C>G (p.Asp1682Glu) rs35219594
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860
NM_025150.5(TARS2):c.1034A>G (p.His345Arg) rs115390773
NM_025150.5(TARS2):c.1160C>T (p.Pro387Leu) rs141179905
NM_025150.5(TARS2):c.1453G>A (p.Val485Ile) rs116552645
NM_025152.3(NUBPL):c.-1C>T rs45468395
NM_025152.3(NUBPL):c.545T>C (p.Val182Ala) rs61752327
NM_025152.3(NUBPL):c.77G>T (p.Gly26Val) rs77539990
NM_025215.6(PUS1):c.999G>C (p.Leu333=) rs150359622
NM_025243.4(SLC19A3):c.1049T>C (p.Val350Ala) rs34507036
NM_025243.4(SLC19A3):c.309G>A (p.Val103=) rs142837989
NM_025243.4(SLC19A3):c.520G>A (p.Val174Ile) rs59736804
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) rs76024428
NM_032273.4(TMEM126A):c.191G>A (p.Arg64His) rs11556797
NM_032273.4(TMEM126A):c.314G>A (p.Arg105Gln) rs146573578
NM_032273.4(TMEM126A):c.96T>G (p.Leu32=) rs36100288
NM_032520.5(GNPTG):c.255G>A (p.Pro85=) rs76594024
NM_032520.5(GNPTG):c.67G>C (p.Gly23Arg) rs547624231
NM_032861.4(SERAC1):c.139T>A (p.Phe47Ile) rs112780453
NM_032861.4(SERAC1):c.89T>C (p.Ile30Thr) rs34270473
NM_033109.5(PNPT1):c.122G>C (p.Ser41Thr) rs140796438
NM_033109.5(PNPT1):c.1251G>A (p.Gly417=) rs146111948
NM_078470.6(COX15):c.*1126T>C rs2231687
NM_080916.3(DGUOK):c.176C>G (p.Thr59Arg) rs144907403
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) rs147551003
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) rs74874677
NM_133259.4(LRPPRC):c.1068A>G (p.Gln356=) rs4953042
NM_133259.4(LRPPRC):c.1301G>A (p.Gly434Asp) rs146515622
NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg) rs148575027
NM_133259.4(LRPPRC):c.246G>A (p.Gln82=) rs6741066
NM_133259.4(LRPPRC):c.2562A>G (p.Val854=) rs4494798
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399
NM_138395.4(MARS2):c.60C>T (p.Leu20=) rs201033319
NM_139242.4(MTFMT):c.16C>T (p.Arg6Trp) rs199599204
NM_144687.3(NLRP12):c.910C>T (p.His304Tyr) rs141245482
NM_145261.4(DNAJC19):c.285A>C (p.Gly95=) rs17850540
NM_145261.4(DNAJC19):c.69G>A (p.Leu23=) rs142023670
NM_145691.4(ATPAF2):c.346T>C (p.Leu116=) rs144484457
NM_145691.4(ATPAF2):c.511G>A (p.Val171Met) rs62073570
NM_152269.5(MTRFR):c.44G>A (p.Arg15Gln) rs78651634
NM_152299.4(NCAPH2):c.*261G>A rs8139305
NM_152299.4(NCAPH2):c.*274G>T rs112793292
NM_152299.4(NCAPH2):c.*455G>A rs131811
NM_152299.4(NCAPH2):c.*710G>A rs75485962
NM_152416.4(NDUFAF6):c.51C>A (p.Ile17=) rs113557846
NM_152416.4(NDUFAF6):c.663A>G (p.Pro221=) rs193102273
NM_152416.4(NDUFAF6):c.838G>A (p.Val280Ile) rs61743028
NM_152778.3(MFSD8):c.1153G>C (p.Gly385Arg) rs11098943
NM_152778.3(MFSD8):c.1268C>T (p.Ala423Val) rs3733319
NM_152778.3(MFSD8):c.199-8T>C rs112721309
NM_152778.3(MFSD8):c.573A>G (p.Thr191=) rs115275192
NM_152783.5(D2HGDH):c.1012G>A (p.Val338Ile) rs1106639
NM_152783.5(D2HGDH):c.1066C>T (p.His356Tyr) rs144668507
NM_152783.5(D2HGDH):c.1082C>T (p.Ala361Val) rs1105273
NM_152783.5(D2HGDH):c.1107T>C (p.Asp369=) rs141343442
NM_152783.5(D2HGDH):c.1140+8G>A rs369135156
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303
NM_152783.5(D2HGDH):c.1395G>A (p.Thr465=) rs111670322
NM_152783.5(D2HGDH):c.164G>A (p.Arg55Gln) rs77940364
NM_152783.5(D2HGDH):c.292+9G>A rs148813816
NM_152783.5(D2HGDH):c.43C>G (p.Arg15Gly) rs4675887
NM_152783.5(D2HGDH):c.685-9T>C rs4234097
NM_152783.5(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_153638.3(PANK2):c.137A>T (p.Asp46Val) rs148036492
NM_153638.3(PANK2):c.276G>A (p.Arg92=) rs142832849
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946
NM_153818.1(PEX10):c.291A>G (p.Thr97=) rs2494598
NM_153818.1(PEX10):c.6C>G (p.Ala2=) rs112471479
NM_173477.5(USH1G):c.832_851del (p.Ser278fs) rs397515345
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) rs158921
NM_182476.3(COQ6):c.1016A>T (p.Asp339Val) rs2074930
NM_182476.3(COQ6):c.1216G>A (p.Val406Met) rs8500
NM_182476.3(COQ6):c.395A>G (p.Asp132Gly) rs45496292
NM_182476.3(COQ6):c.570T>C (p.His190=) rs3180946
NM_182760.4(SUMF1):c.*10_*11delinsGT rs71623163
NM_182760.4(SUMF1):c.445-22T>C rs711634
NM_184043.2(ALDOA):c.1038C>T (p.Ser346=) rs77290575
NM_194318.4(B3GLCT):c.1207G>A (p.Val403Ile) rs147485868
NM_198076.6(COX20):c.42+9G>A rs192100928
NM_198076.6(COX20):c.87C>T (p.Cys29=) rs140032239
NM_198586.3(NHLRC1):c.312T>C (p.His104=) rs115931931
NM_212552.3(BOLA3):c.258+9A>C rs201380456
Single allele

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