ClinVar Miner

Variants from Athena Diagnostics Inc with conflicting interpretations

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

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

Variants with only 1 submission 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
3168 2644 104 2492 1149 25 203 3401

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
Athena Diagnostics Inc pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response protective risk factor
pathogenic 81 173 46 7 2 0 0 1 0 2
likely pathogenic 76 0 29 0 0 0 0 0 0 0
uncertain significance 38 47 7 328 76 1 0 0 0 4
likely benign 10 3 342 0 338 0 0 0 0 2
benign 27 4 450 1905 16 1 2 1 3 9

Submitter to submitter summary #

Total submitters: 122
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 0 830 0 912 412 0 17 1339
GeneDx 0 2109 0 521 185 0 20 726
Genetic Services Laboratory, University of Chicago 0 508 0 575 96 0 10 680
Invitae 0 2412 0 433 208 0 31 672
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1611 0 304 248 0 17 569
Ambry Genetics 0 799 0 276 58 0 4 338
PreventionGenetics 0 1223 0 185 14 0 2 201
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 634 0 127 42 0 0 169
GeneReviews 0 79 85 8 14 0 12 118
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 143 0 100 13 0 2 115
CeGaT Praxis fuer Humangenetik Tuebingen 0 64 0 18 87 0 7 112
OMIM 0 290 0 24 9 23 37 93
Counsyl 0 106 0 68 5 0 6 79
Integrated Genetics/Laboratory Corporation of America 0 217 7 38 16 0 5 66
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 258 0 36 16 0 2 54
Biesecker Lab/Human Development Section,National Institutes of Health 0 76 7 26 19 0 0 52
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 143 0 28 9 0 0 37
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 110 0 15 13 0 3 31
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 53 0 20 7 0 1 28
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 65 0 19 5 0 0 24
Color 0 95 0 17 6 0 0 23
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 75 0 15 7 0 0 22
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 24 0 11 3 0 5 19
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 55 0 8 7 0 3 18
Fulgent Genetics 0 263 0 12 6 0 0 18
Wong Mito Lab, Molecular and Human Genetics,Baylor College of Medicine 0 22 0 8 8 0 2 18
Center for Human Genetics, Inc 0 30 0 8 7 0 0 15
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 13 0 7 6 0 2 15
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 0 0 0 0 0 0 15 15
True Health Diagnostics 0 6 0 12 2 0 0 14
CSER_CC_NCGL; University of Washington Medical Center 0 4 0 5 6 0 2 13
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 23 0 13 0 0 0 13
SIB Swiss Institute of Bioinformatics 0 15 0 6 1 0 4 11
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 7 0 5 0 0 4 9
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 17 0 1 4 0 3 8
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 5 0 1 5 0 2 8
ARUP Institute,ARUP Laboratories 0 17 5 2 0 0 1 8
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 10 0 1 7 0 0 8
Baylor Miraca Genetics Laboratories, 0 15 0 1 5 0 1 7
Mendelics 0 7 0 3 4 0 0 7
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 0 7 0 1 5 0 1 7
Gharavi Laboratory,Columbia University 0 19 0 5 0 0 2 7
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 1 0 6 1 0 0 7
Robarts Research Institute,Western University 0 1 0 5 0 0 1 6
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 4 0 0 1 5
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 2 0 1 4 0 0 5
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 3 0 3 0 0 2 5
Personalized Diabetes Medicine Program,University of Maryland School of Medicine 0 12 0 4 0 0 1 5
Department of Pathology and Laboratory Medicine,Sinai Health System 0 38 0 5 0 0 0 5
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 33 0 1 2 0 1 4
Institute of Human Genetics,Cologne University 0 4 0 1 0 0 3 4
Blueprint Genetics, 0 8 0 1 2 0 1 4
Center for Genetic Medicine Research,Children's National Medical Center 0 2 0 2 2 0 0 4
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 2 1 1 1 0 1 4
GeneKor MSA 0 7 0 1 3 0 0 4
HudsonAlpha Institute for Biotechnology 0 12 0 2 1 0 1 4
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 3 0 2 1 0 1 4
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 1 0 4 0 0 0 4
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 2 0 2 2 0 0 4
Database of Curated Mutations (DoCM) 0 0 0 4 0 0 0 4
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 7 0 3 0 0 1 4
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 5 0 3 0 0 1 4
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 5 0 3 0 0 0 3
UCLA Clinical Genomics Center, UCLA 0 2 0 2 0 0 1 3
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 0 3 0 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 0 9 0 2 0 0 1 3
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 10 0 2 0 0 1 3
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 3 0 0 1 0 2 3
Medical Genetics,University of Parma 0 1 0 2 1 0 0 3
Center for Human Genetics,University of Leuven 0 1 0 2 0 0 1 3
Vantari Genetics 0 6 0 1 2 0 0 3
NIHR Bioresource Rare Diseases,University of Cambridge 0 1 0 1 0 0 2 3
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 4 0 1 1 0 1 3
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 5 0 3 0 0 0 3
UniProtKB/Swiss-Prot 0 19 0 2 0 0 0 2
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 14 0 1 0 0 1 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 1 0 0 1 2
Genetics Laboratories, Oxford Radcliffe Hospitals NHS Trust 0 0 0 1 1 0 0 2
PharmGKB 0 0 0 0 0 2 0 2
LDLR-LOVD, British Heart Foundation 0 7 0 2 0 0 0 2
Wellcome Centre for Mitochondrial Research,Newcastle University 0 8 0 0 0 0 2 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 12 0 2 0 0 0 2
Translational Genomics Laboratory,University of Maryland School of Medicine 0 6 0 0 0 0 2 2
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 4 0 1 1 0 0 2
U4M - Lille University & CHRU Lille,Université Lille 2 - CHRU de Lille 0 2 0 2 0 0 0 2
ClinGen RASopathy Variant Curation Expert Panel, 0 2 0 1 1 0 0 2
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 0 3 0 1 0 0 1 2
Claritas Genomics 0 3 0 0 1 0 0 1
Elsea Laboratory,Baylor College of Medicine 0 0 0 0 0 0 1 1
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center 0 0 0 0 0 0 1 1
Institute of Human Genetics,Klinikum rechts der Isar 0 10 0 0 0 0 1 1
Institute for Integrative and Experimental Genomics,University of Luebeck 0 0 0 1 0 0 0 1
Génétique et pathophysiologie de maladies neurodéveloppementales et épileptogènes, Institut de génétique et de biologie moléculaire et cellulaire 0 0 0 0 1 0 0 1
Department of Neurology, University Hospital of Strasbourg 0 0 0 0 0 0 1 1
Endocrine Unit 2,University Hospital of Pisa 0 0 0 0 1 0 0 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 1 0 0 0 1
Paul Sabatier University EA-4555, Paul Sabatier University 0 0 0 0 1 0 0 1
UCL Genetics Institute,UCL 0 0 0 0 0 1 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 0 0 1 0 0 0 1
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 0 0 0 0 0 0 1 1
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 1 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 1 0 0 1 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 5 0 0 1 0 0 1
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 1 0 0 1 0 0 1
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 0 0 1 0 0 0 1
Muenke lab,National Institutes of Health 0 0 0 0 1 0 0 1
Phosphorus, Inc. 0 9 0 0 1 0 0 1
Yale Center for Mendelian Genomics,Yale University 0 0 0 1 0 0 0 1
ClinGen Inherited Cardiomyopathy Variant Curation Expert Panel, 0 7 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 2 0 0 1 0 0 1
Fundacion Hipercolesterolemia Familiar 0 2 0 0 0 0 1 1
Iberoamerican FH Network 0 3 0 0 0 0 1 1
Section on Medical Neuroendocrinolgy,National Institutes of Health 0 0 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 0 0 0 1 1
Genetics Laboratory,Facudade de Medicina de Sao Jose do Rio Preto 0 0 0 0 1 0 0 1
Human Genomics Unit,Institute for molecular medicine Finland (FIMM) 0 1 0 0 1 0 0 1
SingHealth Duke-NUS Institute of Precision Medicine 0 0 0 0 1 0 0 1
Center for Precision Medicine,Vanderbilt University Medical Center 0 0 0 0 1 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 0 0 0 0 0 1 1
Genetic Diseases Diagnostic Center,Koc University Hospital 0 0 0 1 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 0 0 0 1 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 4 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 3401
Download table as spreadsheet
HGVS dbSNP
NC_012920.1:m.5951A>G rs7340122
NC_012920.1:m.6071T>C rs7340086
NM_000021.3(PSEN1):c.1276G>C (p.Ala426Pro) rs63751223
NM_000021.3(PSEN1):c.1292C>A (p.Ala431Glu) rs63750083
NM_000021.3(PSEN1):c.236C>T (p.Ala79Val) rs63749824
NM_000021.3(PSEN1):c.415A>G (p.Met139Val) rs63751037
NM_000021.3(PSEN1):c.697A>G (p.Met233Val) rs63751287
NM_000021.3(PSEN1):c.791C>T (p.Pro264Leu) rs63750301
NM_000021.3(PSEN1):c.799C>T (p.Pro267Ser) rs63751229
NM_000021.3(PSEN1):c.953A>G (p.Glu318Gly) rs17125721
NM_000023.2(SGCA):c.100C>T (p.Arg34Cys) rs758647756
NM_000023.3(SGCA):c.37+23G>A rs79410682
NM_000023.3(SGCA):c.421C>A (p.Arg141Ser) rs35130237
NM_000023.3(SGCA):c.528C>T (p.Thr176=) rs1801190
NM_000023.3(SGCA):c.739G>A (p.Val247Met) rs143570936
NM_000023.3(SGCA):c.933C>T (p.Val311=) rs1801191
NM_000026.3(ADSL):c.124C>T (p.Leu42=) rs2228415
NM_000026.3(ADSL):c.216C>T (p.Ile72=) rs145786986
NM_000026.3(ADSL):c.357+6C>T rs181628906
NM_000026.3(ADSL):c.358-4G>A rs113199851
NM_000026.3(ADSL):c.403-4G>A rs373652667
NM_000026.3(ADSL):c.440A>T (p.Lys147Met) rs11089991
NM_000026.3(ADSL):c.895A>G (p.Met299Val) rs34396910
NM_000033.3(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.3(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.3(ABCD1):c.1489-6delC rs398123101
NM_000033.3(ABCD1):c.696G>T (p.Ala232=) rs147595334
NM_000051.3(ATM):c.1027_1030delGAAA rs587780612
NM_000051.3(ATM):c.1066-6T>G rs201686625
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1249delA (p.Thr417Profs) rs786203166
NM_000051.3(ATM):c.1368A>G (p.Leu456=) rs750579940
NM_000051.3(ATM):c.1541G>A (p.Gly514Asp) rs2235000
NM_000051.3(ATM):c.162T>C (p.Tyr54=) rs3218690
NM_000051.3(ATM):c.1636C>G (p.Leu546Val) rs2227924
NM_000051.3(ATM):c.1744T>C (p.Phe582Leu) rs2235006
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.2193C>T (p.Tyr731=) rs2229019
NM_000051.3(ATM):c.2250G>A (p.Lys750=) rs1137887
NM_000051.3(ATM):c.2522A>C (p.Asp841Ala) rs587781812
NM_000051.3(ATM):c.2614C>T (p.Pro872Ser) rs3218673
NM_000051.3(ATM):c.2685A>G (p.Leu895=) rs3218687
NM_000051.3(ATM):c.2932T>C (p.Ser978Pro) rs139552233
NM_000051.3(ATM):c.3285-9delT rs1799757
NM_000051.3(ATM):c.3342G>A (p.Lys1114=) rs138393322
NM_000051.3(ATM):c.378T>A (p.Asp126Glu) rs2234997
NM_000051.3(ATM):c.3993+5G>T rs3092842
NM_000051.3(ATM):c.4066A>G (p.Asn1356Asp) rs147600485
NM_000051.3(ATM):c.4138C>T (p.His1380Tyr) rs3092856
NM_000051.3(ATM):c.4324T>C (p.Tyr1442His) rs201666889
NM_000051.3(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.3(ATM):c.4473C>T (p.Phe1491=) rs4988008
NM_000051.3(ATM):c.4949A>G (p.Asn1650Ser) rs55870064
NM_000051.3(ATM):c.5557G>A (p.Asp1853Asn) rs1801516
NM_000051.3(ATM):c.5975A>C (p.Lys1992Thr) rs150757822
NM_000051.3(ATM):c.6067G>A (p.Gly2023Arg) rs11212587
NM_000051.3(ATM):c.609C>T (p.Asp203=) rs144709948
NM_000051.3(ATM):c.6235G>A (p.Val2079Ile) rs1800060
NM_000051.3(ATM):c.6437G>C (p.Ser2146Thr) rs56815840
NM_000051.3(ATM):c.657T>C (p.Cys219=) rs2235003
NM_000051.3(ATM):c.7224G>A (p.Ser2408=) rs145747513
NM_000051.3(ATM):c.735C>T (p.Val245=) rs3218674
NM_000051.3(ATM):c.7494T>C (p.Ser2498=) rs34393781
NM_000051.3(ATM):c.7740A>C (p.Arg2580Ser) rs199915459
NM_000051.3(ATM):c.7788+8G>T rs112775908
NM_000051.3(ATM):c.8592C>T (p.Tyr2864=) rs56025670
NM_000051.3(ATM):c.8786+8A>C rs4986839
NM_000054.4(AVPR2):c.554delG (p.Gly185Valfs) rs193922116
NM_000054.5(AVPR2):c.26-6T>G rs56689668
NM_000054.5(AVPR2):c.740G>A (p.Arg247His) rs149668713
NM_000068.3(CACNA1A):c.1785-6C>T rs201350764
NM_000068.3(CACNA1A):c.699A>G (p.Leu233=) rs749587119
NM_000069.2(CACNA1S):c.1301T>C (p.Phe434Ser) rs146136274
NM_000069.2(CACNA1S):c.1493G>T (p.Arg498Leu) rs150590855
NM_000069.2(CACNA1S):c.1548G>A (p.Ser516=) rs16847669
NM_000069.2(CACNA1S):c.1583G>A (p.Arg528His) rs80338777
NM_000069.2(CACNA1S):c.1670G>A (p.Arg557His) rs4915212
NM_000069.2(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235
NM_000069.2(CACNA1S):c.1995C>T (p.Ala665=) rs16847664
NM_000069.2(CACNA1S):c.2063+7G>T rs79984703
NM_000069.2(CACNA1S):c.3189C>T (p.Phe1063=) rs150020550
NM_000069.2(CACNA1S):c.3261A>G (p.Gln1087=) rs34515088
NM_000069.2(CACNA1S):c.3287G>A (p.Arg1096His) rs142102094
NM_000069.2(CACNA1S):c.345C>T (p.Asp115=) rs144218745
NM_000069.2(CACNA1S):c.3715C>G (p.Arg1239Gly) rs28930069
NM_000069.2(CACNA1S):c.3796-9G>A rs142184434
NM_000069.2(CACNA1S):c.383C>G (p.Thr128Ser) rs139491817
NM_000069.2(CACNA1S):c.3953+6C>T rs115707724
NM_000069.2(CACNA1S):c.4882C>T (p.Leu1628Phe) rs200848930
NM_000069.2(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614
NM_000069.2(CACNA1S):c.858C>T (p.Tyr286=) rs61734621
NM_000070.2(CAPN3):c.1001A>T (p.His334Leu) rs749863676
NM_000070.2(CAPN3):c.1029+3A>G rs28364442
NM_000070.2(CAPN3):c.1063C>T (p.Arg355Trp) rs749099493
NM_000070.2(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.2(CAPN3):c.1194-9A>G rs374665929
NM_000070.2(CAPN3):c.1319G>A rs376107921
NM_000070.2(CAPN3):c.133G>A (p.Ala45Thr) rs774048743
NM_000070.2(CAPN3):c.1343G>A (p.Arg448His) rs863224956
NM_000070.2(CAPN3):c.145C>T (p.Arg49Cys) rs794726871
NM_000070.2(CAPN3):c.1466G>A (p.Arg489Gln) rs147764579
NM_000070.2(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719
NM_000070.2(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942
NM_000070.2(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781
NM_000070.2(CAPN3):c.1543G>A (p.Gly515Arg) rs150226817
NM_000070.2(CAPN3):c.1715G>A (p.Arg572Gln) rs121434544
NM_000070.2(CAPN3):c.1795dupA (p.Thr599Asnfs) rs80338803
NM_000070.2(CAPN3):c.2185-2A>G rs886041335
NM_000070.2(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290
NM_000070.2(CAPN3):c.2306G>A (p.Arg769Gln) rs80338802
NM_000070.2(CAPN3):c.2338G>C (p.Asp780His) rs778768583
NM_000070.2(CAPN3):c.2362_2363delAGinsTCATCT (p.Arg788Serfs) rs1555423217
NM_000070.2(CAPN3):c.2380+12delA rs28364538
NM_000070.2(CAPN3):c.2381-2A>G rs863224962
NM_000070.2(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128
NM_000070.2(CAPN3):c.2433T>C (p.Val811=) rs28364543
NM_000070.2(CAPN3):c.245C>T (p.Pro82Leu) rs886042478
NM_000070.2(CAPN3):c.319G>A (p.Glu107Lys) rs1801505
NM_000070.2(CAPN3):c.371G>C (p.Gly124Ala) rs587780291
NM_000070.2(CAPN3):c.566T>C (p.Leu189Pro) rs758795961
NM_000070.2(CAPN3):c.606T>C (p.Ser202=) rs17593
NM_000070.2(CAPN3):c.62G>A (p.Gly21Glu) rs28364364
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) rs863224965
NM_000070.2(CAPN3):c.939G>A (p.Pro313=) rs78369269
NM_000070.2(CAPN3):c.96T>C (p.Thr32=) rs1801496
NM_000070.3(CAPN3):c.549delA (p.Thr184Argfs) rs80338800
NM_000079.3(CHRNA1):c.1233G>T (p.Glu411Asp) rs61737716
NM_000079.3(CHRNA1):c.540+4G>C rs112674580
NM_000080.3(CHRNE):c.103T>C (p.Tyr35His) rs144169073
NM_000080.3(CHRNE):c.1402G>C (p.Val468Leu) rs139171143
NM_000080.3(CHRNE):c.45C>T (p.Leu15=) rs34563587
NM_000080.3(CHRNE):c.991C>T (p.Arg331Trp) rs121909515
NM_000083.2(CLCN1):c.1013G>A (p.Arg338Gln) rs80356703
NM_000083.2(CLCN1):c.1063G>A (p.Gly355Arg) rs767000881
NM_000083.2(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953
NM_000083.2(CLCN1):c.1437_1450delACCCTGCGGAGGCT (p.Pro480Hisfs) rs768119034
NM_000083.2(CLCN1):c.1480T>C (p.Phe494Leu) rs147493705
NM_000083.2(CLCN1):c.1592C>T (p.Ala531Val) rs80356704
NM_000083.2(CLCN1):c.1655A>G (p.Gln552Arg) rs80356696
NM_000083.2(CLCN1):c.1842G>C (p.Lys614Asn) rs140205115
NM_000083.2(CLCN1):c.2207C>T (p.Thr736Ile) rs139757692
NM_000083.2(CLCN1):c.2230C>A (p.Pro744Thr) rs149316679
NM_000083.2(CLCN1):c.2284+5C>T rs74824159
NM_000083.2(CLCN1):c.2545G>A (p.Ala849Thr) rs201861334
NM_000083.2(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271
NM_000083.2(CLCN1):c.26G>A (p.Arg9His) rs115379077
NM_000083.2(CLCN1):c.2831dupC (p.Gly945Argfs) rs755176513
NM_000083.2(CLCN1):c.2847C>T (p.Gly949=) rs760793323
NM_000083.2(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000083.2(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.2(CLCN1):c.568_569delGGinsTC (p.Gly190Ser) rs797045032
NM_000083.2(CLCN1):c.592C>G (p.Leu198Val) rs80356685
NM_000083.2(CLCN1):c.651C>T (p.Val217=) rs144109732
NM_000083.2(CLCN1):c.689G>A (p.Gly230Glu) rs80356700
NM_000083.2(CLCN1):c.803C>T (p.Thr268Met) rs80356687
NM_000083.2(CLCN1):c.870C>G (p.Ile290Met) rs80356690
NM_000083.2(CLCN1):c.895G>C (p.Val299Leu) rs202179484
NM_000083.2(CLCN1):c.899G>A (p.Arg300Gln) rs118066140
NM_000083.2(CLCN1):c.920T>C (p.Phe307Ser) rs80356701
NM_000083.2(CLCN1):c.929C>T (p.Thr310Met) rs80356691
NM_000083.2(CLCN1):c.937G>A (p.Ala313Thr) rs80356692
NM_000083.2(CLCN1):c.950G>A (p.Arg317Gln) rs80356702
NM_000085.4(CLCNKB):c.1312C>T (p.Arg438Cys) rs121909133
NM_000085.4(CLCNKB):c.1877G>A (p.Cys626Tyr) rs143663847
NM_000085.4(CLCNKB):c.577-5C>T rs1889788
NM_000088.3(COL1A1):c.1300-8C>G rs41317361
NM_000088.3(COL1A1):c.1300-8C>T rs41317361
NM_000088.3(COL1A1):c.1615-4C>A rs41316657
NM_000088.3(COL1A1):c.177G>T (p.Arg59=) rs1057297
NM_000088.3(COL1A1):c.1821C>T (p.Val607=) rs41316667
NM_000088.3(COL1A1):c.1983+9G>C rs201091992
NM_000088.3(COL1A1):c.1984-5C>A rs66592376
NM_000088.3(COL1A1):c.2236-17C>G rs193922146
NM_000088.3(COL1A1):c.2613+13C>T rs368380161
NM_000088.3(COL1A1):c.2668-12A>G rs200355573
NM_000088.3(COL1A1):c.2685delT (p.Gly896Alafs) rs193922151
NM_000088.3(COL1A1):c.2838T>G (p.Pro946=) rs1555572418
NM_000088.3(COL1A1):c.298+7C>A rs41317345
NM_000088.3(COL1A1):c.299-15C>T rs199523510
NM_000088.3(COL1A1):c.3123C>T (p.Pro1041=) rs145608939
NM_000088.3(COL1A1):c.3459T>C (p.Asp1153=) rs1800218
NM_000088.3(COL1A1):c.4249-12G>A rs2249492
NM_000088.3(COL1A1):c.859-14T>G rs17639446
NM_000088.3(COL1A1):c.904-9G>T rs141726413
NM_000089.3(COL1A2):c.1036-12A>G rs41316929
NM_000089.3(COL1A2):c.122G>A (p.Arg41His) rs139528613
NM_000089.3(COL1A2):c.2349+16G>C rs112603291
NM_000089.3(COL1A2):c.2904C>T (p.Pro968=) rs142352627
NM_000089.3(COL1A2):c.304C>T (p.Pro102Ser) rs189557655
NM_000089.3(COL1A2):c.3712-13C>T rs74335369
NM_000089.3(COL1A2):c.82-12A>G rs143689469
NM_000091.4(COL4A3):c.1223G>A (p.Arg408His) rs34505188
NM_000091.4(COL4A3):c.1352A>G (p.His451Arg) rs11677877
NM_000091.4(COL4A3):c.1398T>C (p.Asp466=) rs145833114
NM_000091.4(COL4A3):c.1452G>A (p.Gly484=) rs34019152
NM_000091.4(COL4A3):c.2452G>A (p.Gly818Arg) rs868002181
NM_000091.4(COL4A3):c.2501A>G (p.Lys834Arg) rs56226424
NM_000091.4(COL4A3):c.346C>A (p.Pro116Thr) rs115324397
NM_000091.4(COL4A3):c.3566-9T>C rs147886850
NM_000091.4(COL4A3):c.3807C>A (p.Asp1269Glu) rs57611801
NM_000091.4(COL4A3):c.399G>A (p.Gly133=) rs75683214
NM_000091.4(COL4A3):c.4041C>A (p.Asp1347Glu) rs73996414
NM_000091.4(COL4A3):c.4380T>C (p.Cys1460=) rs114430490
NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000091.4(COL4A3):c.4665G>A (p.Ala1555=) rs200858199
NM_000091.4(COL4A3):c.4707A>T (p.Pro1569=) rs113401495
NM_000091.4(COL4A3):c.4825C>T (p.Arg1609Ter) rs756231749
NM_000091.4(COL4A3):c.4893C>T (p.Phe1631=) rs183218622
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000091.4(COL4A3):c.547-9A>C rs55667591
NM_000091.4(COL4A3):c.805G>A (p.Glu269Lys) rs80109666
NM_000091.4(COL4A3):c.976G>T (p.Asp326Tyr) rs55703767
NM_000092.4(COL4A4):c.1118G>A (p.Gly373Glu) rs755649235
NM_000092.4(COL4A4):c.1634G>C (p.Gly545Ala) rs1800516
NM_000092.4(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949
NM_000092.4(COL4A4):c.198A>G (p.Pro66=) rs147947155
NM_000092.4(COL4A4):c.2008G>A (p.Val670Ile) rs34236495
NM_000092.4(COL4A4):c.2079C>T (p.Pro693=) rs200010601
NM_000092.4(COL4A4):c.2367A>T (p.Gly789=) rs56247709
NM_000092.4(COL4A4):c.2384-5T>C rs3769641
NM_000092.4(COL4A4):c.2439A>T (p.Gly813=) rs34835657
NM_000092.4(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860
NM_000092.4(COL4A4):c.2878G>A (p.Gly960Arg) rs769783985
NM_000092.4(COL4A4):c.2899A>G (p.Ile967Val) rs80243096
NM_000092.4(COL4A4):c.2996G>A (p.Gly999Glu) rs13027659
NM_000092.4(COL4A4):c.3486A>G (p.Pro1162=) rs2229815
NM_000092.4(COL4A4):c.3963T>C (p.Asp1321=) rs116124529
NM_000092.4(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_000092.4(COL4A4):c.4041A>G (p.Leu1347=) rs16823077
NM_000092.4(COL4A4):c.4656G>A (p.Met1552Ile) rs77104306
NM_000092.4(COL4A4):c.5016A>G (p.Glu1672=) rs34761049
NM_000092.4(COL4A4):c.5045G>A (p.Arg1682Gln) rs368404711
NM_000092.4(COL4A4):c.736-10T>G rs201175819
NM_000092.4(COL4A4):c.948T>C (p.Tyr316=) rs34509421
NM_000098.2(CPT2):c.1422C>A (p.Ala474=) rs192779168
NM_000098.2(CPT2):c.1436A>T (p.Tyr479Phe) rs749895856
NM_000098.2(CPT2):c.1598T>C (p.Val533Ala) rs144703247
NM_000098.2(CPT2):c.365C>T (p.Ser122Phe) rs192275019
NM_000098.2(CPT2):c.932A>G (p.Asn311Ser) rs142790440
NM_000100.3(CSTB):c.218_219delTC (p.Leu73Profs) rs796943858
NM_000100.3(CSTB):c.67-1G>C rs147484110
NM_000109.3(DMD):c.1700T>C (p.Leu567Pro) rs370644567
NM_000110.3(DPYD):c.1601G>A (p.Ser534Asn) rs1801158
NM_000110.3(DPYD):c.1627A>G (p.Ile543Val) rs1801159
NM_000110.3(DPYD):c.2194G>A (p.Val732Ile) rs1801160
NM_000110.3(DPYD):c.496A>G (p.Met166Val) rs2297595
NM_000110.3(DPYD):c.85T>C (p.Cys29Arg) rs1801265
NM_000117.2(EMD):c.396C>T (p.His132=) rs145985318
NM_000117.2(EMD):c.537G>A (p.Leu179=) rs368661339
NM_000122.1(ERCC3):c.1027+3A>G rs4150417
NM_000142.4(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656
NM_000142.4(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104
NM_000142.4(FGFR3):c.1879G>A (p.Glu627Lys) rs200849753
NM_000142.4(FGFR3):c.393G>A (p.Ser131=) rs55662109
NM_000144.4(FXN):c.179G>A (p.Arg60His) rs141858334
NM_000144.4(FXN):c.226A>G (p.Met76Val) rs59907886
NM_000156.5(GAMT):c.581T>C (p.Val194Ala) rs147739199
NM_000161.2(GCH1):c.*12T>C rs190993883
NM_000161.2(GCH1):c.671A>G (p.Lys224Arg) rs41298442
NM_000161.2(GCH1):c.68C>T (p.Pro23Leu) rs41298432
NM_000161.2(GCH1):c.747G>C (p.Arg249Ser) rs104894442
NM_000162.3(GCK):c.1019+18G>A rs150914617
NM_000162.3(GCK):c.1020-10C>A rs193922257
NM_000162.3(GCK):c.106C>T (p.Arg36Trp) rs762263694
NM_000162.3(GCK):c.1130G>A (p.Arg377His) rs193922264
NM_000162.3(GCK):c.1136C>A (p.Ala379Glu) rs193922265
NM_000162.3(GCK):c.1190G>T (p.Arg397Leu) rs193929375
NM_000162.3(GCK):c.1288C>T (p.Leu430=) rs193922276
NM_000162.3(GCK):c.1322C>T (p.Ser441Leu) rs1286804191
NM_000162.3(GCK):c.175C>T (p.Pro59Ser) rs193922287
NM_000162.3(GCK):c.363+10G>A rs758495950
NM_000162.3(GCK):c.364-1G>A rs1057521094
NM_000162.3(GCK):c.364C>A (p.Leu122Ile) rs1554335616
NM_000162.3(GCK):c.370G>A (p.Asp124Asn) rs759072800
NM_000162.3(GCK):c.46-12C>T rs142829768
NM_000162.3(GCK):c.645C>T (p.Tyr215=) rs144723656
NM_000162.3(GCK):c.661G>A (p.Glu221Lys) rs193922317
NM_000162.3(GCK):c.666C>T (p.Val222=) rs193922318
NM_000162.3(GCK):c.683C>T (p.Thr228Met) rs80356655
NM_000162.3(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000162.3(GCK):c.863+3A>G rs193922334
NM_000162.4(GCK):c.31G>A (p.Ala11Thr) rs116093166
NM_000162.4(GCK):c.364-18A>G rs191255582
NM_000162.4(GCK):c.483+14A>G rs74852379
NM_000162.4(GCK):c.572G>A (p.Arg191Gln) rs886042610
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934
NM_000163.4(GHR):c.1630A>C (p.Ile544Leu) rs6180
NM_000163.4(GHR):c.1735C>A (p.Pro579Thr) rs6184
NM_000163.4(GHR):c.484G>A (p.Val162Ile) rs6413484
NM_000166.5(GJB1):c.-27C>T rs879254157
NM_000166.5(GJB1):c.-77G>A rs190676487
NM_000166.5(GJB1):c.148T>C (p.Ser50Pro) rs913934445
NM_000166.5(GJB1):c.175G>C (p.Gly59Arg) rs1555937077
NM_000166.5(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.5(GJB1):c.239A>G (p.Gln80Arg) rs879254097
NM_000166.5(GJB1):c.297A>G (p.Gln99=) rs1213746899
NM_000166.5(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.5(GJB1):c.467T>G (p.Leu156Arg) rs104894818
NM_000166.5(GJB1):c.478T>C (p.Tyr160His) rs1555937197
NM_000166.5(GJB1):c.507C>T (p.Asp169=) rs373334326
NM_000166.5(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_000170.2(GLDC):c.1384C>G (p.Leu462Val) rs73400312
NM_000170.2(GLDC):c.1545G>A (p.Arg515=) rs121964976
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000170.2(GLDC):c.1927-9A>G rs41281773
NM_000170.2(GLDC):c.2352C>T (p.Pro784=) rs367781728
NM_000170.2(GLDC):c.2380G>A (p.Ala794Thr) rs141933811
NM_000170.2(GLDC):c.2730G>A (p.Ser910=) rs144937031
NM_000170.2(GLDC):c.2919+3A>G rs73639325
NM_000170.2(GLDC):c.498T>C (p.Pro166=) rs150193069
NM_000170.2(GLDC):c.666T>C (p.Asp222=) rs12004164
NM_000170.2(GLDC):c.671G>A (p.Arg224His) rs28617412
NM_000193.3(SHH):c.570G>A (p.Ser190=) rs9333633
NM_000193.3(SHH):c.869G>A (p.Gly290Asp) rs104894047
NM_000207.2(INS):c.*9C>T rs3842752
NM_000207.2(INS):c.287G>A (p.Cys96Tyr) rs80356671
NM_000209.3(PDX1):c.162G>A (p.Leu54=) rs28509441
NM_000209.3(PDX1):c.165C>A (p.Gly55=) rs530567443
NM_000209.3(PDX1):c.188del (p.Pro63Argfs) rs193929377
NM_000217.3(KCNA1):c.1327C>G (p.Arg443Gly) rs150849316
NM_000217.3(KCNA1):c.1440T>A (p.Thr480=) rs4766309
NM_000217.3(KCNA1):c.393G>A (p.Arg131=) rs142184899
NM_000217.3(KCNA1):c.684T>C (p.Cys228=) rs1048500
NM_000217.3(KCNA1):c.804G>C (p.Thr268=) rs2227910
NM_000218.2(KCNQ1):c.386+16216G>A rs201090517
NM_000220.4(KCNJ1):c.256A>G (p.Thr86Ala) rs41302407
NM_000220.4(KCNJ1):c.562C>T (p.Arg188Cys) rs138120505
NM_000231.2(SGCG):c.195+4_195+7delAGTA rs797045106
NM_000231.2(SGCG):c.228T>C (p.Asp76=) rs1800350
NM_000231.2(SGCG):c.347G>A (p.Arg116His) rs17314986
NM_000231.2(SGCG):c.705T>C (p.Leu235=) rs1800353
NM_000231.2(SGCG):c.787G>A (p.Glu263Lys) rs104894423
NM_000231.2(SGCG):c.832G>A (p.Gly278Ser) rs147820869
NM_000232.4(SGCB):c.341C>T (p.Ser114Phe) rs150518260
NM_000232.4(SGCB):c.799C>T (p.Arg267Cys) rs200761715
NM_000238.3(KCNH2):c.1128+7G>A rs200884259
NM_000238.3(KCNH2):c.1692A>G (p.Leu564=) rs1805121
NM_000238.3(KCNH2):c.1809C>T (p.Gly603=) rs41314375
NM_000238.3(KCNH2):c.1956T>C (p.Tyr652=) rs1137617
NM_000238.3(KCNH2):c.2690A>C (p.Lys897Thr) rs1805123
NM_000238.3(KCNH2):c.3111C>T (p.Asp1037=) rs200799870
NM_000238.3(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.3(KCNH2):c.3153-4C>T rs181119727
NM_000238.3(KCNH2):c.422C>T (p.Pro141Leu) rs199472864
NM_000238.3(KCNH2):c.558C>T (p.Gly186=) rs139533994
NM_000238.3(KCNH2):c.560_568delGCGCGGGCG (p.Gly187_Gly189del) rs551056698
NM_000238.3(KCNH2):c.77-5C>G rs72549419
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys) rs61729664
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692
NM_000257.3(MYH7):c.4239G>A (p.Ser1413=) rs3729821
NM_000257.3(MYH7):c.4353+10G>A rs202205780
NM_000257.3(MYH7):c.5361A>G (p.Glu1787=) rs201171029
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781
NM_000257.4(MYH7):c.2162+4G>A rs145738465
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=) rs61737803
NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys) rs3729823
NM_000257.4(MYH7):c.930T>C (p.Tyr310=) rs111626355
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124
NM_000260.3(MYO7A):c.468C>T (p.Ile156=) rs12420129
NM_000267.3(NF1):c.4537C>T (p.Arg1513Ter) rs760703505
NM_000267.3(NF1):c.574C>T (p.Arg192Ter) rs397514641
NM_000267.3(NF1):c.6789_6792delTTAC (p.Tyr2264Thrfs) rs1555535032
NM_000268.3(NF2):c.1386C>T (p.Arg462=) rs138354622
NM_000268.3(NF2):c.1416C>T (p.Leu472=) rs148776784
NM_000288.3(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000296.3(PKD1):c.10616G>C (p.Gly3539Ala) rs201409107
NM_000296.3(PKD1):c.11012G>A (p.Arg3671Gln) rs201220835
NM_000296.3(PKD1):c.2180T>C (p.Leu727Pro)
NM_000296.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_000296.3(PKD1):c.3785A>G (p.His1262Arg) rs1057518976
NM_000296.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481
NM_000296.3(PKD1):c.8111C>T (p.Ala2704Val) rs200509641
NM_000296.3(PKD1):c.8218G>T (p.Gly2740Ter) rs1555451368
NM_000296.3(PKD1):c.8305C>T (p.Leu2769Phe) rs771382752
NM_000296.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204
NM_000297.3(PKD2):c.1359A>G (p.Pro453=) rs17013754
NM_000297.3(PKD2):c.1445T>G (p.Phe482Cys) rs75762896
NM_000297.3(PKD2):c.2240+1G>A rs1553927783
NM_000297.3(PKD2):c.305_307dupAGG (p.Glu102_Val103insGlu) rs750077647
NM_000297.3(PKD2):c.420G>A (p.Gly140=) rs2728118
NM_000297.3(PKD2):c.444C>T (p.Gly148=) rs181704860
NM_000297.3(PKD2):c.570G>T (p.Ala190=) rs541702320
NM_000297.3(PKD2):c.964C>T (p.Arg322Trp) rs1553925453
NM_000304.2(PMP22):c.233T>C (p.Leu78Pro) rs1555565276
NM_000304.3(PMP22):c.138delC (p.Ser47Glnfs) rs864622180
NM_000304.3(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.3(PMP22):c.403G>A (p.Ala135Thr) rs141094419
NM_000304.3(PMP22):c.68C>G (p.Thr23Arg) rs906563423
NM_000304.4(PMP22):c.281dup (p.Arg95Glnfs) rs80338763
NM_000306.3(POU1F1):c.666-5G>A rs76296626
NM_000310.3(PPT1):c.401T>C (p.Ile134Thr) rs1800205
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000334.4(SCN4A):c.1100+7G>A rs200770684
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=) rs16947296
NM_000334.4(SCN4A):c.1281C>T (p.Phe427=) rs369445518
NM_000334.4(SCN4A):c.1333G>C (p.Val445Leu) rs121908552
NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr) rs185941768
NM_000334.4(SCN4A):c.154C>T (p.Arg52Trp) rs201379704
NM_000334.4(SCN4A):c.1653C>T (p.Cys551=) rs201199086
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg) rs187401185
NM_000334.4(SCN4A):c.1902C>T (p.Pro634=)
NM_000334.4(SCN4A):c.1935C>T (p.Phe645=) rs181494727
NM_000334.4(SCN4A):c.1947C>T (p.Ile649=) rs564134251
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr) rs1057518865
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=) rs76894284
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val) rs372019457
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser) rs201148948
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102
NM_000334.4(SCN4A):c.2748C>G (p.Asn916Lys) rs115379510
NM_000334.4(SCN4A):c.2989+5G>A rs115695396
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp) rs759982229
NM_000334.4(SCN4A):c.318C>T (p.Ser106=) rs138670794
NM_000334.4(SCN4A):c.3395G>A (p.Arg1132Gln) rs80338789
NM_000334.4(SCN4A):c.3473C>T (p.Pro1158Leu) rs1555601448
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile) rs41280110
NM_000334.4(SCN4A):c.366C>T (p.Arg122=) rs41280108
NM_000334.4(SCN4A):c.3720+10A>G rs111679484
NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=) rs141215137
NM_000334.4(SCN4A):c.4288+10G>T rs114059193
NM_000334.4(SCN4A):c.4343G>A (p.Arg1448His) rs121908545
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192
NM_000334.4(SCN4A):c.483-9C>A rs201552497
NM_000334.4(SCN4A):c.4863C>T (p.Tyr1621=) rs769625349
NM_000334.4(SCN4A):c.4905C>T (p.Ile1635=) rs59081944
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile) rs1064794243
NM_000334.4(SCN4A):c.5293G>A (p.Ala1765Thr) rs531694454
NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=) rs189230866
NM_000334.4(SCN4A):c.726C>T (p.Ala242=) rs73326368
NM_000334.4(SCN4A):c.903C>T (p.Tyr301=) rs201411232
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg) rs199676994
NM_000334.4(SCN4A):c.963C>T (p.Asn321=) rs748863960
NM_000334.4(SCN4A):c.999C>T (p.Asn333=) rs149726115
NM_000335.4(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304
NM_000335.4(SCN5A):c.4845C>T (p.Phe1615=) rs41315495
NM_000335.4(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000336.2(SCNN1B):c.1162C>T (p.Arg388Cys) rs61729788
NM_000336.2(SCNN1B):c.1401C>T (p.Ser467=) rs74012901
NM_000336.2(SCNN1B):c.1543-17C>T rs35074083
NM_000336.2(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153
NM_000336.2(SCNN1B):c.777-5T>C rs61759915
NM_000337.5(SGCD):c.290G>A (p.Arg97Gln) rs45559835
NM_000337.5(SGCD):c.699+18C>G rs180898690
NM_000338.2(SLC12A1):c.2873T>C (p.Val958Ala) rs1552311
NM_000338.2(SLC12A1):c.828G>A (p.Val276=) rs3825960
NM_000339.2(SLC12A3):c.1023C>T (p.Phe341=) rs2229209
NM_000339.2(SLC12A3):c.1395C>T (p.Thr465=) rs5801
NM_000339.2(SLC12A3):c.1539C>T (p.Tyr513=) rs146805986
NM_000339.2(SLC12A3):c.1825+9C>A rs35797045
NM_000339.2(SLC12A3):c.1884G>A (p.Ser628=) rs5802
NM_000339.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380
NM_000339.2(SLC12A3):c.2142C>T (p.Ala714=) rs5803
NM_000339.2(SLC12A3):c.2179-8C>T rs13306676
NM_000339.2(SLC12A3):c.2573T>A (p.Leu858His) rs185927948
NM_000339.2(SLC12A3):c.2625C>T (p.Gly875=) rs5804
NM_000339.2(SLC12A3):c.2738G>A (p.Arg913Gln) rs11643718
NM_000339.2(SLC12A3):c.2782C>T (p.Arg928Cys) rs12708965
NM_000339.2(SLC12A3):c.2965G>A (p.Gly989Arg)
NM_000339.2(SLC12A3):c.366A>G (p.Ala122=) rs2304479
NM_000344.3(SMN1):c.419A>T (p.Asp140Val) rs1554081968
NM_000344.3(SMN1):c.785G>T (p.Ser262Ile) rs1554066659
NM_000344.3(SMN1):c.815A>G (p.Tyr272Cys) rs104893922
NM_000344.3(SMN1):c.818A>T (p.His273Leu) rs1554082114
NM_000344.3(SMN1):c.821C>T (p.Thr274Ile) rs1554066666
NM_000344.3(SMN1):c.840C>T (p.Phe280=)
NM_000344.3(SMN1):c.93_96dup (p.Ile33Terfs) rs1554081950
NM_000349.2(STAR):c.505G>A (p.Glu169Lys) rs747169620
NM_000349.2(STAR):c.545G>A (p.Arg182His) rs104894086
NM_000352.4(ABCC8):c.1158C>T (p.Asn386=) rs60824529
NM_000352.4(ABCC8):c.1572G>A (p.Thr524Thr=) rs61748766
NM_000352.4(ABCC8):c.1686C>T (p.His562=) rs1799857
NM_000352.4(ABCC8):c.1947G>A (p.Lys649=) rs1799858
NM_000352.4(ABCC8):c.2041-12C>T rs201419039
NM_000352.4(ABCC8):c.207T>C (p.Pro69=) rs1048099
NM_000352.4(ABCC8):c.2117-3C>T rs1799854
NM_000352.4(ABCC8):c.2143G>A (p.Val715Met) rs1554924142
NM_000352.4(ABCC8):c.2222+1G>T rs1554923999
NM_000352.4(ABCC8):c.2277C>T (p.Thr759=) rs1801261
NM_000352.4(ABCC8):c.2485C>T (p.Leu829=) rs1805036
NM_000352.4(ABCC8):c.2820+17A>G rs2106865
NM_000352.4(ABCC8):c.2992C>T (p.Arg998Ter) rs769518471
NM_000352.4(ABCC8):c.354C>T (p.Val118=) rs137873871
NM_000352.4(ABCC8):c.3819G>A (p.Arg1273=) rs1799859
NM_000352.4(ABCC8):c.4090G>A (p.Val1364Ile) rs138642224
NM_000352.4(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110
NM_000352.4(ABCC8):c.4132G>C (p.Gly1378Arg) rs925231098
NM_000352.4(ABCC8):c.4178G>A (p.Arg1393His) rs769279368
NM_000352.4(ABCC8):c.423G>A (p.Val141=) rs116132921
NM_000352.4(ABCC8):c.4412-14C>T rs193922404
NM_000352.4(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715
NM_000352.4(ABCC8):c.4477C>T (p.Arg1493Trp) rs28936371
NM_000352.4(ABCC8):c.4542C>A (p.Ala1514=) rs113282901
NM_000352.4(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000352.4(ABCC8):c.579+14C>T rs2301703
NM_000352.4(ABCC8):c.822+20C>T rs181998151
NM_000360.3(TH):c.1035G>T (p.Ala345=) rs11826260
NM_000360.3(TH):c.1401C>T (p.Asp467=) rs3842724
NM_000368.4(TSC1):c.-129A>T rs116951280
NM_000368.4(TSC1):c.1335A>G (p.Glu445=) rs7862221
NM_000368.4(TSC1):c.135G>A (p.Leu45=) rs149278759
NM_000368.4(TSC1):c.1701G>A (p.Ala567=) rs35478675
NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.4(TSC1):c.2065C>T (p.Arg689Cys) rs202241429
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000368.4(TSC1):c.2285A>G (p.Asn762Ser) rs118203670
NM_000368.4(TSC1):c.2829C>T (p.Ala943=) rs4962081
NM_000368.4(TSC1):c.2865C>T (p.Thr955=) rs45468995
NM_000368.4(TSC1):c.3282G>A (p.Glu1094=) rs116747861
NM_000368.4(TSC1):c.340C>T (p.Pro114Ser) rs779395169
NM_000368.4(TSC1):c.915G>C (p.Gly305=) rs397515293
NM_000368.4(TSC1):c.965T>C (p.Met322Thr) rs1073123
NM_000370.3(TTPA):c.2T>C (p.Met1Thr) rs786204758
NM_000371.3(TTR):c.165G>T (p.Lys55Asn)
NM_000371.3(TTR):c.238A>G (p.Thr80Ala) rs121918070
NM_000371.3(TTR):c.349G>T (p.Ala117Ser) rs267607161
NM_000371.3(TTR):c.354C>T (p.Asn118=) rs11541797
NM_000371.3(TTR):c.360C>T (p.Ser120=) rs150127220
NM_000371.3(TTR):c.386C>T (p.Ala129Val) rs121918092
NM_000371.3(TTR):c.416C>T (p.Thr139Met) rs28933981
NM_000371.3(TTR):c.417G>A (p.Thr139=) rs2276382
NM_000383.3(AIRE):c.1095+6G>A rs1800525
NM_000383.3(AIRE):c.1197T>C (p.Ala399=) rs1800521
NM_000383.3(AIRE):c.1566+8C>T rs72650680
NM_000383.3(AIRE):c.1578T>C (p.Asp526=) rs1133779
NM_000383.3(AIRE):c.517C>T (p.Gln173Ter) rs1057517241
NM_000383.3(AIRE):c.588C>T (p.Ser196=) rs878081
NM_000383.3(AIRE):c.652+14C>T rs41277546
NM_000383.3(AIRE):c.834C>G (p.Ser278Arg) rs1800520
NM_000383.3(AIRE):c.967_979delCTGTCCCCTCCGC (p.Leu323Serfs) rs386833675
NM_000383.3(AIRE):c.99T>C (p.Ala33=) rs3746964
NM_000384.2(APOB):c.10580G>A (p.Arg3527Gln) rs5742904
NM_000388.3(CASR):c.165G>A (p.Pro55=) rs200018529
NM_000388.3(CASR):c.1775A>G (p.Asn592Ser) rs117375173
NM_000388.3(CASR):c.2064C>T (p.Phe688=) rs150869744
NM_000388.3(CASR):c.2915C>T (p.Thr972Met) rs200620134
NM_000388.3(CASR):c.3234A>T (p.Ser1078=) rs556263764
NM_000388.3(CASR):c.573G>A (p.Glu191=) rs141631116
NM_000388.3(CASR):c.73C>T (p.Arg25Ter) rs201633414
NM_000391.3(TPP1):c.1253G>A (p.Arg418Gln) rs138744051
NM_000391.3(TPP1):c.1497T>C (p.Pro499=) rs142672910
NM_000391.3(TPP1):c.14C>A (p.Ala5Asp) rs138976576
NM_000391.3(TPP1):c.1542A>T (p.Gly514=) rs1128396
NM_000391.3(TPP1):c.260A>G (p.Asp87Gly) rs148064565
NM_000391.3(TPP1):c.542C>T (p.Ser181Phe) rs139059149
NM_000391.3(TPP1):c.553C>T (p.Arg185Cys) rs34758634
NM_000391.3(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000391.3(TPP1):c.83G>A (p.Arg28Gln) rs369126677
NM_000406.2(GNRHR):c.453C>T (p.Ser151=) rs4986942
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.420A>T (p.Lys140Asn) rs28943589
NM_000425.4(L1CAM):c.396C>T (p.Ala132=) rs144708625
NM_000426.3(LAMA2):c.1308T>G (p.Gly436=) rs41285286
NM_000426.3(LAMA2):c.1403C>G (p.Ala468Gly) rs111695726
NM_000426.3(LAMA2):c.156C>T (p.Ile52=) rs1140366
NM_000426.3(LAMA2):c.1621A>G (p.Ser541Gly) rs141363186
NM_000426.3(LAMA2):c.1634T>A (p.Leu545Gln) rs118083923
NM_000426.3(LAMA2):c.1650C>T (p.Gly550=) rs899353
NM_000426.3(LAMA2):c.2430A>C (p.Pro810=) rs147572139
NM_000426.3(LAMA2):c.3296A>G (p.Asn1099Ser) rs35065563
NM_000426.3(LAMA2):c.411G>A (p.Ala137=) rs149347601
NM_000426.3(LAMA2):c.4437-5T>A rs41285288
NM_000426.3(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184
NM_000426.3(LAMA2):c.4956C>G (p.Thr1652=) rs17057184
NM_000426.3(LAMA2):c.5689G>A (p.Ala1897Thr) rs200518204
NM_000426.3(LAMA2):c.5909G>C (p.Cys1970Ser) rs148451013
NM_000426.3(LAMA2):c.6150T>C (p.Asp2050=) rs114766691
NM_000426.3(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053
NM_000426.3(LAMA2):c.6274+4C>T rs73775410
NM_000426.3(LAMA2):c.6429+8C>A rs199773264
NM_000426.3(LAMA2):c.6539A>T (p.Asp2180Val) rs567385461
NM_000426.3(LAMA2):c.675C>T (p.Ala225=) rs139665175
NM_000426.3(LAMA2):c.7074C>A (p.Tyr2358Ter) rs762806915
NM_000426.3(LAMA2):c.7395T>C (p.Asp2465=) rs140483001
NM_000426.3(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843
NM_000426.3(LAMA2):c.8028T>C (p.Asn2676=) rs35313209
NM_000426.3(LAMA2):c.8244+3_8244+6delAAGT rs746678525
NM_000426.3(LAMA2):c.8528A>G (p.Asn2843Ser) rs73599293
NM_000426.3(LAMA2):c.8548-10T>C rs113644365
NM_000426.3(LAMA2):c.8586T>C (p.Tyr2862=) rs142451929
NM_000426.3(LAMA2):c.8692A>C (p.Arg2898=) rs200718262
NM_000426.3(LAMA2):c.922G>A (p.Glu308Lys) rs146462599
NM_000430.3(PAFAH1B1):c.780A>G (p.Val260=) rs150380620
NM_000435.2(NOTCH3):c.1140T>C (p.Pro380=) rs61749020
NM_000435.2(NOTCH3):c.120C>G (p.Ala40=) rs146904189
NM_000435.2(NOTCH3):c.1258G>T (p.Gly420Cys) rs1323608032
NM_000435.2(NOTCH3):c.1426A>T (p.Ser476Cys) rs886054260
NM_000435.2(NOTCH3):c.1487C>T (p.Pro496Leu) rs11670799
NM_000435.2(NOTCH3):c.1490C>T (p.Ser497Leu) rs114207045
NM_000435.2(NOTCH3):c.1620G>T (p.Thr540=) rs75617410
NM_000435.2(NOTCH3):c.1725G>A (p.Thr575=) rs79926127
NM_000435.2(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303
NM_000435.2(NOTCH3):c.2039G>A (p.Arg680His) rs10406745
NM_000435.2(NOTCH3):c.203C>T (p.Pro68Leu) rs146810942
NM_000435.2(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976
NM_000435.2(NOTCH3):c.3062A>G (p.Tyr1021Cys) rs1167405466
NM_000435.2(NOTCH3):c.3182G>A (p.Cys1061Tyr) rs1064794216
NM_000435.2(NOTCH3):c.3296G>A (p.Cys1099Tyr) rs1555727841
NM_000435.2(NOTCH3):c.3399C>A (p.His1133Gln) rs112197217
NM_000435.2(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145
NM_000435.2(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.2(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093
NM_000435.2(NOTCH3):c.4679G>C (p.Arg1560Pro) rs78501403
NM_000435.2(NOTCH3):c.509A>G (p.His170Arg) rs147373451
NM_000435.2(NOTCH3):c.5370C>T (p.Phe1790=) rs35887416
NM_000435.2(NOTCH3):c.5854G>A (p.Val1952Met) rs115582213
NM_000435.2(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348
NM_000435.2(NOTCH3):c.665G>A (p.Cys222Tyr) rs1555729452
NM_000435.2(NOTCH3):c.6813T>C (p.Pro2271=) rs61731974
NM_000435.2(NOTCH3):c.825G>A (p.Val275=) rs138837495
NM_000441.1(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335
NM_000441.1(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353
NM_000444.4(PHEX):c.1482+1G>A rs1064793228
NM_000444.5(PHEX):c.10G>C (p.Glu4Gln) rs147859619
NM_000444.5(PHEX):c.957G>A (p.Lys319=) rs373261521
NM_000445.4(PLEC):c.10006C>T (p.Arg3336Cys) rs77303974
NM_000445.4(PLEC):c.10042G>A (p.Gly3348Arg) rs34132016
NM_000445.4(PLEC):c.10809C>T (p.Gly3603=) rs372840016
NM_000445.4(PLEC):c.10840C>T (p.Leu3614=) rs200006106
NM_000445.4(PLEC):c.11001C>T (p.Tyr3667=) rs28455570
NM_000445.4(PLEC):c.11170C>T (p.Leu3724=) rs17062686
NM_000445.4(PLEC):c.11675G>A (p.Arg3892His) rs200722246
NM_000445.4(PLEC):c.11801C>T (p.Thr3934Met) rs78461695
NM_000445.4(PLEC):c.12324C>T (p.Thr4108=) rs185022156
NM_000445.4(PLEC):c.12696C>T (p.Ile4232=) rs202116866
NM_000445.4(PLEC):c.12723C>T (p.Ile4241=) rs111227648
NM_000445.4(PLEC):c.12898C>T (p.Pro4300Ser) rs202040785
NM_000445.4(PLEC):c.13717G>A (p.Val4573Met) rs573424409
NM_000445.4(PLEC):c.1710G>T (p.Glu570Asp) rs201164522
NM_000445.4(PLEC):c.1905C>T (p.Ser635=) rs201927593
NM_000445.4(PLEC):c.2050A>T (p.Ser684Cys) rs199843296
NM_000445.4(PLEC):c.2349C>T (p.Thr783=) rs371267446
NM_000445.4(PLEC):c.2539-8C>T rs201818691
NM_000445.4(PLEC):c.255+10delG rs528031000
NM_000445.4(PLEC):c.2589G>A (p.Pro863=) rs116385960
NM_000445.4(PLEC):c.2632G>A (p.Val878Met) rs200647397
NM_000445.4(PLEC):c.2910G>A (p.Ala970=)
NM_000445.4(PLEC):c.3252G>A (p.Ser1084=) rs371271326
NM_000445.4(PLEC):c.3582C>T (p.His1194=)
NM_000445.4(PLEC):c.3826C>A (p.Arg1276=) rs201552166
NM_000445.4(PLEC):c.3838-9A>G rs57461687
NM_000445.4(PLEC):c.3859C>G (p.Arg1287Gly) rs151022876
NM_000445.4(PLEC):c.3868G>A (p.Glu1290Lys) rs377125427
NM_000445.4(PLEC):c.4039C>T (p.Arg1347Cys) rs372256096
NM_000445.4(PLEC):c.4302G>A (p.Ala1434=) rs185790521
NM_000445.4(PLEC):c.4304C>T (p.Ala1435Val) rs111851716
NM_000445.4(PLEC):c.4527G>A (p.Ala1509=) rs782202249
NM_000445.4(PLEC):c.4679G>A (p.Arg1560Gln) rs201430180
NM_000445.4(PLEC):c.4935C>T (p.Ala1645=) rs7011480
NM_000445.4(PLEC):c.5110G>A (p.Gly1704Ser) rs373952777
NM_000445.4(PLEC):c.5552C>T (p.Ala1851Val) rs542642242
NM_000445.4(PLEC):c.5558G>A (p.Arg1853Gln) rs147838690
NM_000445.4(PLEC):c.5793C>T (p.Ser1931=) rs115735672
NM_000445.4(PLEC):c.6102G>A (p.Ala2034=) rs200338935
NM_000445.4(PLEC):c.6150C>G (p.Arg2050=) rs376365984
NM_000445.4(PLEC):c.621C>T (p.Cys207=) rs189256993
NM_000445.4(PLEC):c.6243C>T (p.His2081=) rs563719398
NM_000445.4(PLEC):c.6321C>T (p.Arg2107=) rs576688705
NM_000445.4(PLEC):c.6489G>A (p.Glu2163=)
NM_000445.4(PLEC):c.6675C>T (p.Thr2225=) rs144242254
NM_000445.4(PLEC):c.6838G>A (p.Ala2280Thr) rs62641756
NM_000445.4(PLEC):c.6867G>A (p.Thr2289=) rs373922545
NM_000445.4(PLEC):c.6926G>A (p.Arg2309Gln) rs782316711
NM_000445.4(PLEC):c.7348G>A (p.Ala2450Thr) rs193257576
NM_000445.4(PLEC):c.7834G>C (p.Glu2612Gln) rs200488179
NM_000445.4(PLEC):c.7911G>A (p.Ala2637=) rs376112916
NM_000445.4(PLEC):c.7961C>G (p.Pro2654Arg) rs184879368
NM_000445.4(PLEC):c.8106C>T (p.Gly2702=) rs35139934
NM_000445.4(PLEC):c.8121C>T (p.Asp2707=) rs373341589
NM_000445.4(PLEC):c.8132G>A (p.Arg2711Gln) rs200239963
NM_000445.4(PLEC):c.8526T>C (p.Val2842=) rs371421350
NM_000445.4(PLEC):c.8587G>A (p.Asp2863Asn) rs200814155
NM_000445.4(PLEC):c.882C>T (p.Asp294=) rs202218097
NM_000445.4(PLEC):c.8901C>G (p.Asp2967Glu) rs58308209
NM_000445.4(PLEC):c.9414G>A (p.Gly3138=) rs188739870
NM_000445.4(PLEC):c.9432C>T (p.Phe3144=) rs200895343
NM_000445.4(PLEC):c.9556G>A (p.Ala3186Thr) rs201030020
NM_000445.4(PLEC):c.9976C>T (p.Arg3326Trp) rs142805337
NM_000447.2(PSEN2):c.129C>T (p.Asn43=) rs6759
NM_000447.2(PSEN2):c.166G>A (p.Gly56Ser) rs188598190
NM_000447.2(PSEN2):c.261C>T (p.His87=) rs1046240
NM_000447.2(PSEN2):c.364A>C (p.Thr122Pro) rs63749851
NM_000447.2(PSEN2):c.389C>T (p.Ser130Leu) rs63750197
NM_000447.2(PSEN2):c.441C>T (p.Ser147=) rs114334281
NM_000447.2(PSEN2):c.69T>C (p.Ala23=) rs11405
NM_000447.2(PSEN2):c.708T>C (p.Ser236=) rs61730652
NM_000447.2(PSEN2):c.954C>T (p.Pro318=) rs199587016
NM_000451.3(SHOX):c.144G>A (p.Glu48=)
NM_000451.3(SHOX):c.400C>A (p.Arg134=) rs193922467
NM_000451.3(SHOX):c.63C>T (p.Gly21=) rs142306835
NM_000451.3(SHOX):c.864G>A (p.Glu288=) rs781656634
NM_000451.3(SHOX):c.870G>A (p.Leu290=) rs746391025
NM_000454.4(SOD1):c.272A>C (p.Asp91Ala) rs80265967
NM_000454.4(SOD1):c.301G>A (p.Glu101Lys)
NM_000454.4(SOD1):c.423T>A (p.Ala141=) rs143100660
NM_000457.4(HNF4A):c.116-5C>T rs745975
NM_000457.4(HNF4A):c.1203C>T (p.Asn401=) rs61737145
NM_000457.4(HNF4A):c.201C>T (p.Ala67=) rs736823
NM_000457.4(HNF4A):c.492+6G>A rs182980547
NM_000457.4(HNF4A):c.505G>A (p.Val169Ile) rs142204928
NM_000457.4(HNF4A):c.991C>T (p.Arg331Cys) rs193922479
NM_000457.4(HNF4A):c.998G>A (p.Arg333His) rs1375557127
NM_000458.3(HNF1B):c.1045+12T>C rs141166864
NM_000458.3(HNF1B):c.1654-11_1654-9delinsC rs386134268
NM_000458.3(HNF1B):c.657C>T (p.Ser219=) rs148713761
NM_000458.3(HNF1B):c.884G>A (p.Arg295His) rs886043813
NM_000462.5(UBE3A):c.591A>G (p.Ala197=) rs764101035
NM_000478.5(ALPL):c.1119C>T (p.Thr373=) rs112335417
NM_000478.5(ALPL):c.1250A>G (p.Asn417Ser) rs121918014
NM_000478.5(ALPL):c.1381G>A (p.Val461Ile) rs34810399
NM_000478.5(ALPL):c.1542G>T (p.Ala514=) rs3200256
NM_000478.5(ALPL):c.330C>T (p.Ser110=) rs1780316
NM_000478.5(ALPL):c.455G>A (p.Arg152His) rs149344982
NM_000478.5(ALPL):c.818C>T (p.Thr273Met) rs148405563
NM_000484.3(APP):c.1299+9T>C rs114675472
NM_000484.3(APP):c.1614T>C (p.Tyr538=) rs45537238
NM_000484.3(APP):c.2124C>T (p.Gly708=) rs148888161
NM_000484.3(APP):c.2143G>A (p.Val715Met) rs63750734
NM_000484.3(APP):c.592T>C (p.Ser198Pro) rs145081708
NM_000486.5(AQP2):c.190G>A (p.Gly64Arg) rs104894326
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.585G>T (p.Trp195Cys) rs6151415
NM_000489.3(ATRX):c.2785C>G (p.Glu929=) rs3088074
NM_000489.4(ATRX):c.3541G>C (p.Val1181Leu) rs61758732
NM_000489.4(ATRX):c.5968T>A (p.Ser1990Thr) rs142180002
NM_000495.4(COL4A5):c.1032+5G>T rs104886315
NM_000495.4(COL4A5):c.1779+1G>A
NM_000495.4(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142
NM_000495.4(COL4A5):c.2858G>T (p.Gly953Val) rs78972735
NM_000495.4(COL4A5):c.3731G>A (p.Gly1244Asp) rs104886261
NM_000495.4(COL4A5):c.4688G>A (p.Arg1563Gln) rs281874743
NM_000495.4(COL4A5):c.4946T>G (p.Leu1649Arg) rs104886303
NM_000495.4(COL4A5):c.5030G>A (p.Arg1677Gln) rs104886308
NM_000495.4(COL4A5):c.884G>A (p.Gly295Asp) rs104886079
NM_000497.3(CYP11B1):c.1003A>G (p.Asn335Asp) rs61752766
NM_000497.3(CYP11B1):c.1015G>A (p.Ala339Thr) rs193922534
NM_000497.3(CYP11B1):c.1098T>G (p.Arg366=) rs61752769
NM_000497.3(CYP11B1):c.1120C>A (p.Arg374=) rs61752786
NM_000497.3(CYP11B1):c.1122-20A>G rs61752794
NM_000497.3(CYP11B1):c.1331G>A (p.Gly444Asp) rs779103938
NM_000497.3(CYP11B1):c.1451T>A (p.Val484Asp) rs374517238
NM_000497.3(CYP11B1):c.281C>T (p.Pro94Leu) rs104894070
NM_000497.3(CYP11B1):c.799+5G>C rs193922542
NM_000500.7(CYP21A2):c.1069C>T (p.Arg357Trp) rs7769409
NM_000500.7(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445
NM_000500.7(CYP21A2):c.293-13C>G rs6467
NM_000500.7(CYP21A2):c.308G>A (p.Arg103Lys) rs6474
NM_000500.7(CYP21A2):c.332_339delGAGACTAC (p.Gly111Valfs) rs387906510
NM_000500.7(CYP21A2):c.342C>T (p.Ser114=) rs193922546
NM_000500.7(CYP21A2):c.518T>A (p.Ile173Asn) rs6475
NM_000500.7(CYP21A2):c.552C>G (p.Asp184Glu) rs397515531
NM_000500.7(CYP21A2):c.806G>C (p.Ser269Thr) rs6472
NM_000500.7(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.7(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs7755898
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu) rs184649564
NM_000500.9(CYP21A2):c.923dup (p.Leu308Phefs) rs267606756
NM_000515.4(GH1):c.-4T>G rs6173
NM_000525.3(KCNJ11):c.1009G>A (p.Val337Ile) rs5215
NM_000525.3(KCNJ11):c.1143G>A (p.Lys381=) rs8175351
NM_000525.3(KCNJ11):c.1154C>G (p.Ser385Cys) rs41282930
NM_000525.3(KCNJ11):c.149G>A (p.Arg50Gln) rs80356611
NM_000525.3(KCNJ11):c.570C>T (p.Ala190=) rs5218
NM_000525.3(KCNJ11):c.602G>A (p.Arg201His) rs80356624
NM_000525.3(KCNJ11):c.678C>T (p.Pro226=) rs74162102
NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) rs5219
NM_000525.3(KCNJ11):c.801C>G (p.Leu267=) rs5216
NM_000525.3(KCNJ11):c.808C>G (p.Leu270Val) rs1800467
NM_000527.4(LDLR):c.1060+10G>C rs12710260
NM_000527.4(LDLR):c.1060+7T>C rs2738442
NM_000527.4(LDLR):c.1171G>A (p.Ala391Thr) rs11669576
NM_000527.4(LDLR):c.1783C>T (p.Arg595Trp) rs373371572
NM_000527.4(LDLR):c.1911delC (p.Asp638Metfs) rs867272973
NM_000527.4(LDLR):c.2106G>A (p.Met702Ile) rs140731590
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000527.4(LDLR):c.463T>G (p.Cys155Gly) rs879254535
NM_000527.4(LDLR):c.680_681delAC (p.Asp227Glyfs) rs387906305
NM_000527.4(LDLR):c.682G>T (p.Glu228Ter) rs121908029
NM_000530.6(MPZ):c.293G>A (p.Arg98His) rs121913589
NM_000530.6(MPZ):c.487G>C (p.Gly163Arg) rs281865128
NM_000530.6(MPZ):c.684C>T (p.Ser228=) rs34307129
NM_000530.6(MPZ):c.706_708delAAG (p.Lys236del) rs755446743
NM_000530.7(MPZ):c.242A>G (p.His81Arg) rs121913594
NM_000530.7(MPZ):c.385G>A (p.Val129Ile) rs201156403
NM_000530.7(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000530.7(MPZ):c.409G>A (p.Gly137Ser) rs121913588
NM_000530.7(MPZ):c.418T>A (p.Ser140Thr) rs572010627
NM_000530.7(MPZ):c.51G>A (p.Leu17=) rs149637045
NM_000530.7(MPZ):c.646-7C>G rs377495735
NM_000533.4(PLP1):c.-31C>T rs2233695
NM_000533.4(PLP1):c.168A>G (p.Gln56=) rs2233697
NM_000533.4(PLP1):c.609T>C (p.Asp203=) rs1126707
NM_000540.2(RYR1):c.10627-1G>C
NM_000540.2(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273
NM_000540.2(RYR1):c.131G>A (p.Arg44His) rs139161723
NM_000540.2(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.2(RYR1):c.14589C>T (p.Phe4863=) rs146072491
NM_000540.2(RYR1):c.2121C>A (p.Gly707=) rs146104858
NM_000540.2(RYR1):c.2241G>A (p.Leu747=) rs34097444
NM_000540.2(RYR1):c.2366G>A (p.Arg789Gln) rs200069592
NM_000540.2(RYR1):c.297G>A (p.Thr99=) rs144241486
NM_000540.2(RYR1):c.3326G>A (p.Arg1109Lys) rs35719391
NM_000540.2(RYR1):c.3972G>A (p.Ala1324=) rs200451188
NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390
NM_000540.2(RYR1):c.4719G>A (p.Pro1573=) rs35480887
NM_000540.2(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.2(RYR1):c.7615-7G>A rs146159174
NM_000540.2(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463
NM_000540.2(RYR1):c.8616+7G>A rs200023171
NM_000545.6(HNF1A):c.1310-12C>T rs193922579
NM_000545.6(HNF1A):c.1375C>T (p.Leu459=) rs2259820
NM_000545.6(HNF1A):c.1460G>A (p.Ser487Asn) rs2464196
NM_000545.6(HNF1A):c.1501+7G>A rs2464195
NM_000545.6(HNF1A):c.1502-14T>C rs765596650
NM_000545.6(HNF1A):c.1545G>A (p.Thr515=) rs55834942
NM_000545.6(HNF1A):c.1722C>A (p.Gly574=) rs141304623
NM_000545.6(HNF1A):c.1A>G (p.Met1Val) rs193922592
NM_000545.6(HNF1A):c.293C>T (p.Ala98Val) rs1800574
NM_000545.6(HNF1A):c.51C>G (p.Leu17=) rs1169289
NM_000545.6(HNF1A):c.599G>A (p.Arg200Gln) rs893256143
NM_000545.6(HNF1A):c.79A>C (p.Ile27Leu) rs1169288
NM_000548.3(TSC2):c.1100G>A (p.Arg367Gln) rs1800725
NM_000548.3(TSC2):c.2410T>C (p.Cys804Arg) rs137853995
NM_000548.3(TSC2):c.255C>T (p.Val85=) rs45517098
NM_000548.3(TSC2):c.3126G>C (p.Pro1042=) rs36078782
NM_000548.3(TSC2):c.3846_3855delCTGCCAAGGAinsG (p.Ser1282_Gly1285delinsArg) rs587778732
NM_000548.3(TSC2):c.3883+8C>G rs45517316
NM_000548.3(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.3(TSC2):c.4536C>T (p.Asp1512=) rs35986575
NM_000548.3(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000548.4(TSC2):c.1110G>A (p.Gln370=) rs1800742
NM_000548.4(TSC2):c.1276C>T (p.Leu426=) rs45478593
NM_000548.4(TSC2):c.1281C>A (p.Ile427=) rs45478892
NM_000548.4(TSC2):c.1292C>T (p.Ala431Val) rs202187148
NM_000548.4(TSC2):c.1377C>T (p.Gly459=) rs45517170
NM_000548.4(TSC2):c.1387A>G (p.Ile463Val) rs45517171
NM_000548.4(TSC2):c.1543C>T (p.Leu515=) rs35896166
NM_000548.4(TSC2):c.1578C>T (p.Ser526=) rs34012042
NM_000548.4(TSC2):c.1747G>A (p.Ala583Thr) rs1800729
NM_000548.4(TSC2):c.1816A>G (p.Ile606Val) rs371074761
NM_000548.4(TSC2):c.1947-9C>T rs747475590
NM_000548.4(TSC2):c.2031C>T (p.Pro677=) rs45517208
NM_000548.4(TSC2):c.228C>T (p.His76=) rs45517097
NM_000548.4(TSC2):c.2348C>G (p.Thr783Ser) rs562945619
NM_000548.4(TSC2):c.2451C>T (p.Asp817=) rs201442542
NM_000548.4(TSC2):c.2580T>C (p.Phe860=) rs13337626
NM_000548.4(TSC2):c.2666C>T (p.Ala889Val) rs137854155
NM_000548.4(TSC2):c.2743-9C>T rs397515319
NM_000548.4(TSC2):c.2784C>T (p.Pro928=) rs45517267
NM_000548.4(TSC2):c.3095G>C (p.Arg1032Pro) rs45491698
NM_000548.4(TSC2):c.3567G>A (p.Leu1189=) rs146734084
NM_000548.4(TSC2):c.3723C>T (p.Phe1241=) rs45486193
NM_000548.4(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.4(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320
NM_000548.4(TSC2):c.3915G>A (p.Pro1305=) rs11551373
NM_000548.4(TSC2):c.3969G>A (p.Ala1323=) rs749057825
NM_000548.4(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000548.4(TSC2):c.4087G>A (p.Val1363Ile) rs751203255
NM_000548.4(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399
NM_000548.4(TSC2):c.4223G>T (p.Gly1408Val) rs202068995
NM_000548.4(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923
NM_000548.4(TSC2):c.4493+7C>A rs199943270
NM_000548.4(TSC2):c.4638C>T (p.Ala1546=) rs45517354
NM_000548.4(TSC2):c.4680C>T (p.Ala1560=) rs139507276
NM_000548.4(TSC2):c.482-3C>T rs1800720
NM_000548.4(TSC2):c.4908C>T (p.Asp1636=) rs115200071
NM_000548.4(TSC2):c.4911G>A (p.Lys1637=) rs35282988
NM_000548.4(TSC2):c.4959C>T (p.Ser1653=) rs45517384
NM_000548.4(TSC2):c.4983C>T (p.Thr1661=) rs35534817
NM_000548.4(TSC2):c.4990-7C>T rs45457095
NM_000548.4(TSC2):c.5131G>A (p.Val1711Met) rs139779505
NM_000548.4(TSC2):c.5161-10A>C rs1800718
NM_000548.4(TSC2):c.5259+1del rs137854317
NM_000548.4(TSC2):c.5266G>A (p.Glu1756Lys) rs375075952
NM_000548.4(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419
NM_000548.4(TSC2):c.856A>G (p.Met286Val) rs1800748
NM_000548.4(TSC2):c.975+7C>T rs372463702
NM_000551.3(VHL):c.340+5G>C rs61758376
NM_000601.5(HGF):c.333A>G (p.Glu111=) rs5745635
NM_000702.3(ATP1A2):c.1119G>A (p.Ser373=) rs1063125
NM_000702.3(ATP1A2):c.129G>A (p.Lys43=) rs61734527
NM_000702.3(ATP1A2):c.1652-7C>A rs200102433
NM_000702.3(ATP1A2):c.1980C>T (p.Cys660=) rs61734529
NM_000702.3(ATP1A2):c.2130C>T (p.Ala710=) rs374749325
NM_000702.3(ATP1A2):c.2143G>A (p.Gly715Arg) rs1553245771
NM_000702.3(ATP1A2):c.2751G>A (p.Thr917=) rs146839867
NM_000702.3(ATP1A2):c.2961C>T (p.Cys987=) rs74123254
NM_000702.3(ATP1A2):c.339C>T (p.Tyr113=) rs148929192
NM_000702.3(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766
NM_000722.3(CACNA2D1):c.1956-4delT rs3083235
NM_000722.3(CACNA2D1):c.1983G>A (p.Ser661=) rs75158917
NM_000726.4(CACNB4):c.*4T>C rs556761275
NM_000742.3(CHRNA2):c.1530C>T (p.Ile510=) rs149142237
NM_000742.3(CHRNA2):c.383G>A (p.Gly128Asp) rs138682847
NM_000742.3(CHRNA2):c.745G>A (p.Ala249Thr) rs77710085
NM_000744.6(CHRNA4):c.1203G>C (p.Leu401=) rs56142348
NM_000744.6(CHRNA4):c.1209G>T (p.Pro403=) rs2229959
NM_000744.6(CHRNA4):c.1227T>C (p.Cys409=) rs2229960
NM_000744.6(CHRNA4):c.1629C>T (p.Ser543=) rs1044396
NM_000744.6(CHRNA4):c.1637T>G (p.Val546Gly) rs764888239
NM_000744.6(CHRNA4):c.1659G>A (p.Ala553=) rs1044397
NM_000744.6(CHRNA4):c.189C>T (p.Leu63=) rs2273506
NM_000744.6(CHRNA4):c.225C>T (p.Asp75=) rs113080067
NM_000744.6(CHRNA4):c.402G>A (p.Ala134=) rs201488442
NM_000744.6(CHRNA4):c.51G>A (p.Leu17=) rs79739740
NM_000744.6(CHRNA4):c.639T>C (p.Asp213=) rs1044393
NM_000744.6(CHRNA4):c.678T>C (p.Cys226=) rs1044394
NM_000744.6(CHRNA4):c.681C>A (p.Ala227=) rs45588436
NM_000744.6(CHRNA4):c.858C>T (p.Thr286=) rs121912257
NM_000744.6(CHRNA4):c.876C>T (p.Ile292=) rs139694653
NM_000744.6(CHRNA4):c.978C>T (p.Phe326=) rs76270730
NM_000748.2(CHRNB2):c.109C>T (p.Leu37=) rs71651693
NM_000748.2(CHRNB2):c.1191G>C (p.Gln397His) rs55685423
NM_000748.2(CHRNB2):c.1233G>A (p.Ala411=) rs55857552
NM_000748.2(CHRNB2):c.1235G>A (p.Gly412Asp) rs112585933
NM_000756.3(CRH):c.456G>A (p.Arg152=)
NM_000784.3(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102
NM_000784.3(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687
NM_000784.3(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000784.3(CYP27A1):c.438G>A (p.Pro146=) rs692003
NM_000806.5(GABRA1):c.156T>C (p.Gly52=) rs1129647
NM_000806.5(GABRA1):c.96A>G (p.Gln32=) rs76224028
NM_000814.5(GABRB3):c.-719C>T rs121913126
NM_000814.5(GABRB3):c.1293G>A (p.Arg431=) rs75914945
NM_000815.4(GABRD):c.1060-7C>T rs368961588
NM_000815.4(GABRD):c.470+6C>T rs202225187
NM_000815.4(GABRD):c.659G>A (p.Arg220His) rs41307846
NM_000816.3(GABRG2):c.1296G>A (p.Gly432=) rs150727562
NM_000816.3(GABRG2):c.315C>T (p.Asn105=) rs11135176
NM_000816.3(GABRG2):c.588C>T (p.Asn196=) rs211037
NM_000816.3(GABRG2):c.922+6A>G rs375294947
NM_000825.3(GNRH1):c.59G>C (p.Trp20Ser) rs6185
NM_000828.4(GRIA3):c.1166A>C (p.Lys389Thr) rs146022384
NM_000828.4(GRIA3):c.15G>A (p.Lys5=) rs61740996
NM_000833.4(GRIN2A):c.1354G>A (p.Val452Met) rs145956175
NM_000833.4(GRIN2A):c.306C>T (p.Asp102=) rs200850130
NM_000833.4(GRIN2A):c.3898A>G (p.Arg1300Gly) rs372353067
NM_000833.4(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
NM_000833.4(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288
NM_000833.4(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353
NM_000834.3(GRIN2B):c.2514C>T (p.Cys838=) rs3026160
NM_000834.3(GRIN2B):c.2664C>T (p.Thr888=) rs1806201
NM_000834.3(GRIN2B):c.4113C>T (p.Tyr1371=) rs146792012
NM_000834.4(GRIN2B):c.15G>A (p.Ala5=) rs34315573
NM_000834.4(GRIN2B):c.1665C>T (p.Ser555=) rs1805482
NM_000834.4(GRIN2B):c.2691C>T (p.Asn897=) rs35125534
NM_000834.4(GRIN2B):c.3498C>T (p.Ser1166=) rs45600931
NM_000834.4(GRIN2B):c.3534C>T (p.His1178=) rs1806191
NM_000834.4(GRIN2B):c.3552C>T (p.Gly1184=) rs141886903
NM_000834.4(GRIN2B):c.4105G>A (p.Gly1369Ser) rs371190262
NM_000834.4(GRIN2B):c.4197T>C (p.His1399=) rs1805247
NM_000834.4(GRIN2B):c.4218C>T (p.Phe1406=) rs1805246
NM_000834.4(GRIN2B):c.504C>A (p.Ile168=) rs36031537
NM_001003800.1(BICD2):c.269A>G (p.Lys90Arg) rs61754130
NM_001005360.2(DNM2):c.1077C>T (p.Gly359=) rs112238216
NM_001005360.2(DNM2):c.1384A>G (p.Thr462Ala) rs201575500
NM_001005360.2(DNM2):c.1836C>T (p.Asp612=) rs767061986
NM_001005360.2(DNM2):c.1837G>A (p.Val613Met) rs748286191
NM_001005360.2(DNM2):c.2139T>C (p.Ala713=) rs2229920
NM_001005360.2(DNM2):c.236-8C>G rs143084059
NM_001005360.2(DNM2):c.2543+7C>G rs201979143
NM_001005360.2(DNM2):c.386-6T>A rs114623441
NM_001005360.2(DNM2):c.519T>C (p.Ala173=) rs77702567
NM_001005360.2(DNM2):c.633C>T (p.Asp211=) rs200191870
NM_001005360.2(DNM2):c.876G>A (p.Ser292=) rs749140605
NM_001007792.1(NTRK1):c.1730G>T (p.Gly577Val) rs6339
NM_001008537.2(NEXMIF):c.151C>A (p.Pro51Thr) rs145018752
NM_001008537.2(NEXMIF):c.2373A>C (p.Thr791=) rs61742545
NM_001008537.2(NEXMIF):c.2598C>A (p.Ser866=) rs41298498
NM_001008537.2(NEXMIF):c.3555G>T (p.Gly1185=) rs142714242
NM_001008537.2(NEXMIF):c.3709A>T (p.Met1237Leu) rs61731613
NM_001008537.2(NEXMIF):c.4246C>T (p.Pro1416Ser) rs143577015
NM_001009944.2(PKD1):c.11537+3_11537+5dupGGG rs201204878
NM_001009944.2(PKD1):c.11976C>G (p.Ala3992=) rs112387277
NM_001009944.2(PKD1):c.12139-5C>T rs146430229
NM_001009944.2(PKD1):c.12436G>A (p.Val4146Ile) rs148478410
NM_001009944.2(PKD1):c.1710C>T (p.His570=) rs367983387
NM_001009944.2(PKD1):c.1714C>T (p.Pro572Ser) rs149022148
NM_001009944.2(PKD1):c.182C>T (p.Pro61Leu) rs886038369
NM_001009944.2(PKD1):c.214C>T (p.Leu72=) rs972113626
NM_001009944.2(PKD1):c.3502C>T (p.Pro1168Ser) rs146887330
NM_001009944.2(PKD1):c.4018C>T (p.Arg1340Trp) rs143690392
NM_001009944.2(PKD1):c.4917C>T (p.Gly1639=) rs148852027
NM_001009944.2(PKD1):c.5847C>T (p.Ser1949=) rs80111665
NM_001009944.2(PKD1):c.588C>T (p.Ser196=) rs776302294
NM_001009944.2(PKD1):c.6488G>A (p.Arg2163Gln) rs145217118
NM_001009944.2(PKD1):c.6545A>G (p.Gln2182Arg) rs147685291
NM_001009944.2(PKD1):c.7642G>C (p.Glu2548Gln) rs28369051
NM_001009944.2(PKD1):c.8123C>T (p.Thr2708Met) rs147350387
NM_001009944.2(PKD1):c.8364G>A (p.Ser2788=) rs145176597
NM_001009944.2(PKD1):c.837G>A (p.Gly279=) rs372124319
NM_001009944.2(PKD1):c.8545delG (p.Ala2849Profs) rs1555451093
NM_001012331.1(NTRK1):c.1788-4delA rs1799770
NM_001012331.1(NTRK1):c.2254G>A (p.Ala752Thr) rs62640939
NM_001012331.1(NTRK1):c.2321G>A (p.Arg774Gln) rs35669708
NM_001031737.2(CCDC78):c.1234G>A (p.Gly412Arg) rs148276717
NM_001031737.2(CCDC78):c.384G>T (p.Glu128Asp) rs145274257
NM_001031737.2(CCDC78):c.492+1G>A rs138669350
NM_001031737.2(CCDC78):c.953+10G>A rs79863898
NM_001032221.3(STXBP1):c.38-3T>C rs138763389
NM_001037.4(SCN1B):c.267C>T (p.Arg89=) rs140949982
NM_001037.4(SCN1B):c.28G>A (p.Gly10Ser) rs72552027
NM_001037.4(SCN1B):c.363C>G (p.Cys121Trp) rs104894718
NM_001037.4(SCN1B):c.448+8G>C rs200222933
NM_001037.4(SCN1B):c.588T>C (p.Asn196=) rs77244433
NM_001037.4(SCN1B):c.632G>A (p.Cys211Tyr) rs150721582
NM_001039.3(SCNN1G):c.547G>A (p.Gly183Ser) rs5736
NM_001039.3(SCNN1G):c.589G>A (p.Glu197Lys) rs5738
NM_001039.3(SCNN1G):c.636C>T (p.Ser212=) rs5739
NM_001039141.2(TRIOBP):c.391G>A (p.Gly131Ser) rs144634857
NM_001039523.2(CHRNA1):c.730C>T (p.Leu244=) rs150638770
NM_001042432.1(CLN3):c.768C>T (p.Thr256=) rs145967477
NM_001042492.2(NF1):c.2034G>A (p.Pro678=) rs2285892
NM_001042492.2(NF1):c.3457_3460delCTCA (p.Leu1153Metfs) rs1321848637
NM_001042492.2(NF1):c.4882T>C (p.Leu1628=) rs10512435
NM_001042537.1(SLC9A6):c.25G>T (p.Ala9Ser) rs201523857
NM_001079802.1(FKTN):c.1026C>A (p.Leu342=) rs17309806
NM_001079802.1(FKTN):c.166-6A>G rs41277795
NM_001079802.1(FKTN):c.166C>T (p.Arg56Cys) rs41277797
NM_001079802.1(FKTN):c.608G>A (p.Arg203Gln) rs34787999
NM_001079802.1(FKTN):c.668C>T (p.Thr223Ile) rs116105846
NM_001080114.1(LDB3):c.494C>T (p.Ala165Val) rs121908334
NM_001080114.1(LDB3):c.504T>C (p.Asp168=) rs76615432
NM_001080116.1(LDB3):c.163G>A (p.Val55Ile) rs3740343
NM_001080116.1(LDB3):c.302C>T (p.Pro101Leu) rs45592139
NM_001080522.2(CC2D2A):c.2161C>T (p.Pro721Ser) rs199768782
NM_001080522.2(CC2D2A):c.3183-8T>C rs13121363
NM_001083961.1(WDR62):c.142C>T (p.Leu48Phe) rs62109744
NM_001083961.1(WDR62):c.1470C>T (p.Asp490=) rs45567532
NM_001083961.1(WDR62):c.1641G>A (p.Thr547=) rs2301734
NM_001083961.1(WDR62):c.1643-10C>T rs4806263
NM_001083961.1(WDR62):c.180G>A (p.Val60=) rs61742664
NM_001083961.1(WDR62):c.186C>T (p.Leu62=) rs11538454
NM_001083961.1(WDR62):c.2271G>A (p.Leu757=) rs61494900
NM_001083961.1(WDR62):c.2334-6C>A rs138928852
NM_001083961.1(WDR62):c.2549T>C (p.Leu850Ser) rs2285745
NM_001083961.1(WDR62):c.2975C>T (p.Ser992Leu) rs74518295
NM_001083961.1(WDR62):c.3033G>A (p.Pro1011=) rs118175551
NM_001083961.1(WDR62):c.3087C>T (p.Cys1029=) rs141344823
NM_001083961.1(WDR62):c.3401T>G (p.Met1134Arg) rs61741470
NM_001083961.1(WDR62):c.3468C>T (p.Leu1156=) rs17851502
NM_001083961.1(WDR62):c.3639C>T (p.Ser1213=) rs45470992
NM_001083961.1(WDR62):c.3674G>A (p.Arg1225His) rs61743589
NM_001083961.1(WDR62):c.3812C>T (p.Ala1271Val) rs111294536
NM_001083961.1(WDR62):c.3946C>G (p.Gln1316Glu) rs35811023
NM_001083961.1(WDR62):c.4123G>A (p.Gly1375Ser) rs17851503
NM_001083961.1(WDR62):c.866A>G (p.Lys289Arg) rs12327568
NM_001083962.1(TCF4):c.1419G>C (p.Pro473=) rs143944746
NM_001083962.1(TCF4):c.1905G>A (p.Ala635=) rs151150677
NM_001083962.1(TCF4):c.790-9T>C rs373434281
NM_001083962.1(TCF4):c.966T>C (p.Asp322=) rs142998298
NM_001099922.2(ALG13):c.2383_2385delGAA (p.Glu795del) rs772766102
NM_001101362.2(KBTBD13):c.1077A>G (p.Gly359=) rs199526404
NM_001101362.2(KBTBD13):c.794G>A (p.Gly265Asp) rs146917406
NM_001101362.2(KBTBD13):c.954C>G (p.Thr318=) rs368781046
NM_001101426.3(CRPPA):c.1220T>C (p.Leu407Ser) rs141625803
NM_001101426.3(CRPPA):c.933+3A>G rs377582530
NM_001105243.1(PCDH19):c.1725C>T (p.Val575=) rs200471732
NM_001105243.1(PCDH19):c.769G>C (p.Val257Leu) rs201713027
NM_001110556.1(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110792.1(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001111125.2(IQSEC2):c.1641G>A (p.Ala547=) rs61745228
NM_001111125.2(IQSEC2):c.4104G>A (p.Leu1368=) rs184087864
NM_001112741.1(KCNC1):c.1236C>T (p.Ser412=) rs73424033
NM_001112741.1(KCNC1):c.933C>T (p.Arg311=) rs76882721
NM_001123066.3(MAPT):c.1815G>A (p.Pro605=) rs11568305
NM_001127221.1(CACNA1A):c.1360G>A (p.Ala454Thr) rs41276886
NM_001127221.1(CACNA1A):c.1364G>A (p.Arg455Gln) rs561858384
NM_001127221.1(CACNA1A):c.1398G>A (p.Ser466=) rs374307014
NM_001127221.1(CACNA1A):c.1908C>T (p.Phe636=) rs115452236
NM_001127221.1(CACNA1A):c.1986T>C (p.Phe662=) rs368033271
NM_001127221.1(CACNA1A):c.2094G>A (p.Thr698=) rs16016
NM_001127221.1(CACNA1A):c.2754G>C (p.Glu918Asp) rs16022
NM_001127221.1(CACNA1A):c.2870G>T (p.Arg957Leu) rs551380805
NM_001127221.1(CACNA1A):c.2978A>T (p.Glu993Val) rs16023
NM_001127221.1(CACNA1A):c.2983_2988dupGAGGGC (p.Gly996_Pro997insGluGly) rs764399373
NM_001127221.1(CACNA1A):c.3031C>G (p.Pro1011Ala) rs28413664
NM_001127221.1(CACNA1A):c.3043G>A (p.Glu1015Lys) rs16024
NM_001127221.1(CACNA1A):c.3060G>A (p.Arg1020=) rs16025
NM_001127221.1(CACNA1A):c.3230C>T (p.Ala1077Val) rs199512932
NM_001127221.1(CACNA1A):c.3312C>T (p.Pro1104=) rs374749004
NM_001127221.1(CACNA1A):c.3313G>A (p.Gly1105Ser) rs16027
NM_001127221.1(CACNA1A):c.3387G>A (p.Pro1129=) rs370541345
NM_001127221.1(CACNA1A):c.3412C>G (p.Pro1138Ala) rs199793367
NM_001127221.1(CACNA1A):c.3534C>A (p.Pro1178=) rs184723350
NM_001127221.1(CACNA1A):c.3547G>A (p.Val1183Ile) rs369742607
NM_001127221.1(CACNA1A):c.3549C>T (p.Val1183=) rs16029
NM_001127221.1(CACNA1A):c.3825C>T (p.Asn1275=) rs201230929
NM_001127221.1(CACNA1A):c.3864T>C (p.Phe1288=) rs16030
NM_001127221.1(CACNA1A):c.4075C>T (p.Arg1359Trp) rs1555745461
NM_001127221.1(CACNA1A):c.4224C>T (p.Asp1408=) rs201200430
NM_001127221.1(CACNA1A):c.4314G>A (p.Lys1438=) rs572036869
NM_001127221.1(CACNA1A):c.4594-9C>G rs16032
NM_001127221.1(CACNA1A):c.462C>T (p.Ala154=) rs1800039
NM_001127221.1(CACNA1A):c.4635C>T (p.Thr1545=) rs150378053
NM_001127221.1(CACNA1A):c.4982G>A (p.Arg1661His) rs121908216
NM_001127221.1(CACNA1A):c.4991G>A (p.Arg1664Gln) rs121908247
NM_001127221.1(CACNA1A):c.5271T>C (p.Ala1757=) rs373678557
NM_001127221.1(CACNA1A):c.5742C>T (p.Ala1914=) rs16044
NM_001127221.1(CACNA1A):c.579G>A (p.Thr193=) rs41276894
NM_001127221.1(CACNA1A):c.6268C>A (p.Arg2090=) rs200093958
NM_001127221.1(CACNA1A):c.6471C>T (p.Arg2157=) rs745336852
NM_001127221.1(CACNA1A):c.6486C>T (p.Arg2162=) rs745609731
NM_001127221.1(CACNA1A):c.654G>C (p.Ser218=) rs201991581
NM_001127221.1(CACNA1A):c.784+10C>T rs781363787
NM_001127221.1(CACNA1A):c.876A>G (p.Glu292=) rs16006
NM_001127222.1(CACNA1A):c.1345+7C>T rs192536793
NM_001127660.1(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_001128227.2(GNE):c.740T>C (p.Val247Ala) rs779694939
NM_001130089.1(KARS):c.1163-7C>T rs16941301
NM_001130438.2(SPTAN1):c.1511C>T (p.Ala504Val) rs148727077
NM_001130438.2(SPTAN1):c.1737C>T (p.Phe579=) rs143941068
NM_001130438.2(SPTAN1):c.2599G>A (p.Glu867Lys) rs1339046005
NM_001130438.2(SPTAN1):c.3720-5T>G rs200543425
NM_001130438.2(SPTAN1):c.3912C>T (p.Pro1304=) rs143844598
NM_001130438.2(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250
NM_001130438.2(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571
NM_001130438.2(SPTAN1):c.4595+4G>T rs185925523
NM_001130438.2(SPTAN1):c.5775C>T (p.Thr1925=) rs140353002
NM_001130438.2(SPTAN1):c.6111C>T (p.Gly2037=) rs139799727
NM_001130438.2(SPTAN1):c.6498C>A (p.Arg2166=) rs72758823
NM_001130438.2(SPTAN1):c.6660C>T (p.Asn2220=) rs112955915
NM_001130438.2(SPTAN1):c.7419G>A (p.Ser2473=) rs375649697
NM_001135244.1(TCOF1):c.2762C>T (p.Pro921Leu) rs150515843
NM_001135244.1(TCOF1):c.579G>A (p.Ala193=) rs142965998
NM_001135659.2(NRXN1):c.1695A>G (p.Arg565=) rs201941844
NM_001135659.2(NRXN1):c.1808T>C (p.Ile603Thr) rs201837579
NM_001135659.2(NRXN1):c.2242C>A (p.Leu748Ile) rs56086732
NM_001135659.2(NRXN1):c.2505C>G (p.Pro835=) rs147984237
NM_001135659.2(NRXN1):c.2541C>T (p.Asn847=) rs115211871
NM_001135659.2(NRXN1):c.3165C>T (p.Ala1055=) rs56402642
NM_001135659.2(NRXN1):c.4053A>G (p.Ala1351=) rs79970751
NM_001135659.2(NRXN1):c.501C>G (p.Leu167=) rs200248561
NM_001142298.1(SQSTM1):c.98C>T (p.Ala33Val) rs147810437
NM_001145.4(ANG):c.122A>T (p.Lys41Ile) rs121909536
NM_001145.4(ANG):c.250A>G (p.Lys84Glu) rs17560
NM_001145309.3(LRTOMT):c.69G>C (p.Leu23=) rs12272086
NM_001145809.1(MYH14):c.5281C>A (p.Arg1761=) rs116035034
NM_001151.3(SLC25A4):c.490A>G (p.Ile164Val) rs143511445
NM_001165928.3(DAG1):c.599C>G (p.Thr200Ser) rs41290704
NM_001165963.1(SCN1A):c.1212A>G (p.Val404=) rs7580482
NM_001165963.1(SCN1A):c.1739G>A (p.Arg580Gln) rs544692790
NM_001165963.1(SCN1A):c.2292T>C (p.Val764=) rs6432860
NM_001165963.1(SCN1A):c.345T>C (p.Asn115=) rs61741123
NM_001165963.1(SCN1A):c.4724G>A (p.Arg1575His) rs368834365
NM_001165963.1(SCN1A):c.4945C>T (p.Leu1649=) rs148546224
NM_001165963.1(SCN1A):c.5286A>G (p.Gly1762=) rs150570058
NM_001165963.2(SCN1A):c.1329A>G (p.Glu443=) rs1553546728
NM_001165963.2(SCN1A):c.3039A>G (p.Gln1013=) rs780391343
NM_001165963.2(SCN1A):c.4787G>A (p.Arg1596His) rs575368466
NM_001166111.1(PNPLA6):c.2389G>A (p.Val797Met) rs145988230
NM_001168272.1(ITPR1):c.3876C>T (p.His1292=) rs61757108
NM_001168272.1(ITPR1):c.7914C>T (p.Ile2638=) rs371988852
NM_001173991.2(TMEM216):c.264G>A (p.Pro88=) rs3741265
NM_001178065.1(CASR):c.2986G>T (p.Ala996Ser) rs1801725
NM_001182.4(ALDH7A1):c.1263G>A (p.Ala421=) rs587780850
NM_001182.4(ALDH7A1):c.373A>G (p.Ile125Val) rs117295656
NM_001184880.1(PCDH19):c.1353G>A (p.Pro451=) rs373795773
NM_001184880.1(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001184880.1(PCDH19):c.697G>T (p.Asp233Tyr) rs1555985482
NM_001190716.1(DNM2):c.1072G>A (p.Gly358Arg) rs267606772
NM_001190836.1(DCTN1):c.3620C>T (p.Thr1207Ile) rs72466496
NM_001193466.1(KANSL1):c.1652C>T (p.Thr551Ile) rs778178483
NM_001193466.1(KANSL1):c.2109A>G (p.Leu703=) rs34101027
NM_001193466.1(KANSL1):c.571G>T (p.Gly191Cys) rs149566146
NM_001193466.1(KANSL1):c.680G>A (p.Ser227Asn) rs150345690
NM_001193466.1(KANSL1):c.727C>A (p.Gln243Lys) rs142096969
NM_001199107.1(TBC1D24):c.1196C>T (p.Thr399Met) rs61731477
NM_001199107.1(TBC1D24):c.1642G>A (p.Val548Met) rs201649140
NM_001199107.1(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520
NM_001199107.1(TBC1D24):c.204G>A (p.Thr68=) rs201374999
NM_001199107.1(TBC1D24):c.441C>T (p.Asp147=) rs149371169
NM_001199107.1(TBC1D24):c.785C>T (p.Ser262Leu) rs201060500
NM_001204824.1(KCNQ3):c.2131C>T (p.Arg711Trp) rs185628977
NM_001204831.2(ANO10):c.980A>G (p.Tyr327Cys) rs146569520
NM_001242896.1(DEPDC5):c.1389C>T (p.Asp463=) rs188147862
NM_001242896.1(DEPDC5):c.3331-10del rs377356885
NM_001242896.2(DEPDC5):c.161A>C (p.Gln54Pro) rs201312113
NM_001243766.1(POMGNT1):c.301G>A (p.Val101Ile) rs150576537
NM_001244008.1(KIF1A):c.2088C>T (p.Asn696=) rs758111969
NM_001244710.1(GFPT1):c.408+7A>T rs112682152
NM_001256182.1(ANKRD11):c.136G>A (p.Asp46Asn)
NM_001256182.1(ANKRD11):c.3045C>G (p.Pro1015=)
NM_001256182.1(ANKRD11):c.306G>C (p.Leu102=)
NM_001256182.1(ANKRD11):c.3660G>A (p.Arg1220=)
NM_001256182.1(ANKRD11):c.4872G>A (p.Ala1624=) rs143426579
NM_001256182.1(ANKRD11):c.5088C>G (p.Asp1696Glu) rs146205997
NM_001256182.1(ANKRD11):c.5250C>T (p.Thr1750=)
NM_001256182.1(ANKRD11):c.6580C>G (p.Gln2194Glu)
NM_001256182.1(ANKRD11):c.6712A>G (p.Ser2238Gly)
NM_001256182.1(ANKRD11):c.6725C>T (p.Ala2242Val)
NM_001256182.1(ANKRD11):c.6746G>A (p.Arg2249His)
NM_001256182.1(ANKRD11):c.6919C>T (p.Pro2307Ser) rs575642464
NM_001256850.1(TTN):c.101655T>A (p.Ser33885=) rs55838839
NM_001256850.1(TTN):c.102032G>A (p.Arg34011Gln) rs200497615
NM_001256850.1(TTN):c.102454+1G>A rs112188483
NM_001256850.1(TTN):c.10837G>A (p.Glu3613Lys) rs186624523
NM_001256850.1(TTN):c.11782A>C (p.Asn3928His) rs199652066
NM_001256850.1(TTN):c.12035G>A (p.Arg4012Lys) rs199560188
NM_001256850.1(TTN):c.12251G>A (p.Arg4084Gln) rs200431386
NM_001256850.1(TTN):c.13833C>A (p.Leu4611=) rs373875040
NM_001256850.1(TTN):c.14591G>C (p.Gly4864Ala) rs201185434
NM_001256850.1(TTN):c.14955C>T (p.Val4985=) rs375179152
NM_001256850.1(TTN):c.15104-9A>C rs368897883
NM_001256850.1(TTN):c.1537-4G>A rs56006378
NM_001256850.1(TTN):c.15471A>G (p.Gln5157=) rs371026448
NM_001256850.1(TTN):c.156C>T (p.Pro52=) rs72647842
NM_001256850.1(TTN):c.16349G>A (p.Ser5450Asn) rs200692495
NM_001256850.1(TTN):c.17580G>C (p.Val5860=) rs370684491
NM_001256850.1(TTN):c.19074C>A (p.Ala6358=) rs373842558
NM_001256850.1(TTN):c.20246A>G (p.Lys6749Arg) rs553548392
NM_001256850.1(TTN):c.20691C>T (p.Asn6897=) rs752620885
NM_001256850.1(TTN):c.20717G>A (p.Arg6906His) rs138853909
NM_001256850.1(TTN):c.20849G>A (p.Gly6950Asp) rs375627540
NM_001256850.1(TTN):c.21741A>T (p.Thr7247=) rs187182557
NM_001256850.1(TTN):c.22072G>T (p.Asp7358Tyr) rs552951988
NM_001256850.1(TTN):c.25721A>G (p.Asn8574Ser) rs146057575
NM_001256850.1(TTN):c.25743G>T (p.Gly8581=) rs199525540
NM_001256850.1(TTN):c.28019C>T (p.Ser9340Leu) rs200049911
NM_001256850.1(TTN):c.289G>A (p.Val97Met) rs185921345
NM_001256850.1(TTN):c.30812-1G>A rs202234172
NM_001256850.1(TTN):c.31098A>G (p.Lys10366=) rs375408527
NM_001256850.1(TTN):c.31792G>C (p.Ala10598Pro) rs72650032
NM_001256850.1(TTN):c.32905G>A (p.Glu10969Lys) rs376874956
NM_001256850.1(TTN):c.38654G>A (p.Arg12885Gln) rs373491468
NM_001256850.1(TTN):c.39625+9A>G rs372725070
NM_001256850.1(TTN):c.40130C>T (p.Ala13377Val) rs72677221
NM_001256850.1(TTN):c.40251C>T (p.Gly13417=) rs372609980
NM_001256850.1(TTN):c.4160T>C (p.Leu1387Pro) rs115303497
NM_001256850.1(TTN):c.43238-4delT rs730880371
NM_001256850.1(TTN):c.4671G>A (p.Met1557Ile) rs139192633
NM_001256850.1(TTN):c.47187G>A (p.Pro15729=) rs139789997
NM_001256850.1(TTN):c.47967C>T (p.Thr15989=) rs374228930
NM_001256850.1(TTN):c.49889-5A>G rs375343798
NM_001256850.1(TTN):c.52019C>T (p.Ala17340Val) rs397517627
NM_001256850.1(TTN):c.53689A>G (p.Thr17897Ala) rs200017524
NM_001256850.1(TTN):c.54392C>T (p.Pro18131Leu) rs72646840
NM_001256850.1(TTN):c.5464A>C (p.Met1822Leu) rs201581947
NM_001256850.1(TTN):c.55275G>A (p.Pro18425=) rs767152563
NM_001256850.1(TTN):c.58820T>C (p.Leu19607Pro) rs745323281
NM_001256850.1(TTN):c.60681T>C (p.Ala20227=) rs200825430
NM_001256850.1(TTN):c.61750G>A (p.Asp20584Asn) rs72646870
NM_001256850.1(TTN):c.64898G>A (p.Gly21633Asp) rs201043950
NM_001256850.1(TTN):c.65382G>A (p.Thr21794=) rs397517684
NM_001256850.1(TTN):c.69968C>T (p.Pro23323Leu) rs72646899
NM_001256850.1(TTN):c.69972A>C (p.Gln23324His) rs201512527
NM_001256850.1(TTN):c.70759C>T (p.Pro23587Ser) rs377226540
NM_001256850.1(TTN):c.70839G>T (p.Val23613=) rs374003257
NM_001256850.1(TTN):c.71999G>A (p.Arg24000His) rs369707906
NM_001256850.1(TTN):c.74777A>G (p.Asn24926Ser) rs183844833
NM_001256850.1(TTN):c.74940G>A (p.Thr24980=) rs186402008
NM_001256850.1(TTN):c.77566G>A (p.Gly25856Arg) rs201158906
NM_001256850.1(TTN):c.78210G>A (p.Lys26070=) rs369223412
NM_001256850.1(TTN):c.79538C>T (p.Pro26513Leu) rs200350579
NM_001256850.1(TTN):c.80325A>T (p.Thr26775=) rs187180708
NM_001256850.1(TTN):c.8069C>T (p.Thr2690Ile) rs374620001
NM_001256850.1(TTN):c.83374G>A (p.Asp27792Asn) rs189202799
NM_001256850.1(TTN):c.83553C>G (p.Thr27851=) rs190406444
NM_001256850.1(TTN):c.86720C>T (p.Ala28907Val) rs553668520
NM_001256850.1(TTN):c.87014A>G (p.Asn29005Ser) rs72648245
NM_001256850.1(TTN):c.89700C>T (p.Tyr29900=) rs376539252
NM_001256850.1(TTN):c.91257T>C (p.Ile30419=) rs572401798
NM_001256850.1(TTN):c.9150A>G (p.Thr3050=) rs72647886
NM_001256850.1(TTN):c.92334T>C (p.Ile30778=) rs373206096
NM_001256850.1(TTN):c.95068T>C (p.Cys31690Arg) rs56061641
NM_001256850.1(TTN):c.97348C>T (p.Arg32450Trp) rs140319117
NM_001256850.1(TTN):c.97828A>G (p.Met32610Val) rs56173891
NM_001256850.1(TTN):c.98369C>T (p.Thr32790Met) rs192001910
NM_001256850.1(TTN):c.98765T>C (p.Val32922Ala) rs55945684
NM_001267550.2(TTN):c.1002C>T (p.Thr334=) rs148094198
NM_001267550.2(TTN):c.10104T>G (p.Val3368=) rs142460433
NM_001267550.2(TTN):c.10378C>G (p.Pro3460Ala) rs201735487
NM_001267550.2(TTN):c.105787_105788delGCinsTT (p.Ala35263Phe) rs794729250
NM_001267550.2(TTN):c.106375-2A>G rs1553482872
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=) rs6725673
NM_001267550.2(TTN):c.107688G>A (p.Pro35896=) rs542575761
NM_001267550.2(TTN):c.11254+2T>C rs199565715
NM_001267550.2(TTN):c.11370A>G (p.Gln3790=) rs72648918
NM_001267550.2(TTN):c.12195T>C (p.Leu4065=) rs201129413
NM_001267550.2(TTN):c.16716A>G (p.Pro5572=) rs367821526
NM_001267550.2(TTN):c.19818A>G (p.Lys6606=) rs397517492
NM_001267550.2(TTN):c.20236G>A (p.Ala6746Thr) rs202108224
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=) rs72648971
NM_001267550.2(TTN):c.23925C>T (p.Ser7975=) rs374879942
NM_001267550.2(TTN):c.25223C>T (p.Thr8408Ile) rs201432372
NM_001267550.2(TTN):c.26329G>A (p.Val8777Ile) rs376823283
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=) rs200088963
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met) rs72647868
NM_001267550.2(TTN):c.31762+5_31762+7delGCC rs397517538
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala) rs200213832
NM_001267550.2(TTN):c.32807-10T>A rs138192315
NM_001267550.2(TTN):c.38311A>G (p.Lys12771Glu) rs551811137
NM_001267550.2(TTN):c.40250C>T (p.Pro13417Leu) rs537578226
NM_001267550.2(TTN):c.42840T>G (p.Asp14280Glu) rs760643071
NM_001267550.2(TTN):c.44423A>C (p.Lys14808Thr) rs374419129
NM_001267550.2(TTN):c.44784T>C (p.Asp14928=) rs186105748
NM_001267550.2(TTN):c.47196G>C (p.Val15732=) rs369979598
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=) rs76081119
NM_001267550.2(TTN):c.51273G>A (p.Arg17091=) rs532589236
NM_001267550.2(TTN):c.53122_53123delAAinsGT (p.Lys17708Val) rs886042743
NM_001267550.2(TTN):c.54068G>A (p.Arg18023Gln) rs727503603
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=) rs190830121
NM_001267550.2(TTN):c.58191G>A (p.Thr19397=) rs370091658
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) rs72646876
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=) rs11904444
NM_001267550.2(TTN):c.70506G>T (p.Gly23502=) rs181702963
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238
NM_001267550.2(TTN):c.74600_74602delCAA (p.Thr24867del) rs543318580
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=) rs375398118
NM_001267550.2(TTN):c.77205G>A (p.Val25735=) rs55857909
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=) rs72648212
NM_001267550.2(TTN):c.88246G>T (p.Val29416Phe) rs755325663
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val) rs200193877
NM_001267550.2(TTN):c.92226G>A (p.Arg30742=) rs759484932
NM_001267550.2(TTN):c.92294G>C (p.Arg30765Thr) rs373099440
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=) rs200173934
NM_001267550.2(TTN):c.96138A>T (p.Ile32046=) rs368154623
NM_001271.3(CHD2):c.1049A>T (p.Gln350Leu)
NM_001271.3(CHD2):c.3126C>T (p.Asp1042=) rs150268140
NM_001271.3(CHD2):c.3321C>T (p.Asp1107=) rs141018126
NM_001271.3(CHD2):c.5049C>T (p.Ala1683=) rs139534358
NM_001271208.1(NEB):c.10338T>C (p.Asn3446=) rs147569843
NM_001271208.1(NEB):c.10344C>T (p.Asn3448=) rs145052299
NM_001271208.1(NEB):c.10347+6C>T rs141088433
NM_001271208.1(NEB):c.153_167dupTCTGGCACAGCCAGC (p.Ala61_Ser62insLeuAlaGlnProAla) rs757726895
NM_001271208.1(NEB):c.19455G>A (p.Lys6485=) rs182847302
NM_001271208.1(NEB):c.24313-7C>T rs113048349
NM_001271208.1(NEB):c.6069G>A (p.Met2023Ile) rs184262608
NM_001271208.1(NEB):c.7126G>C (p.Val2376Leu) rs141155976
NM_001271208.1(NEB):c.8335A>G (p.Ile2779Val) rs114853127
NM_001271208.1(NEB):c.9181A>T (p.Met3061Leu) rs143473183
NM_001271208.1(NEB):c.9315C>A (p.Val3105=) rs371174518
NM_001271208.1(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001271999.1(DOCK7):c.2471T>C (p.Ile824Thr) rs35400360
NM_001271999.1(DOCK7):c.4669G>A (p.Gly1557Ser) rs147103646
NM_001277269.1(OTOG):c.535delG (p.Val179Trpfs) rs876657657
NM_001277269.1(OTOG):c.6110C>T (p.Ala2037Val) rs61736002
NM_001277269.1(OTOG):c.7861C>A (p.Gln2621Lys) rs61995750
NM_001277269.1(OTOG):c.8071C>T (p.Arg2691Cys) rs567966154
NM_001287174.1(ABCC8):c.2509C>T (p.Arg837Ter) rs72559722
NM_001308117.1(RBFOX1):c.1186G>A (p.Gly396Ser) rs145873257
NM_001351297.1(ABCC8):c.1060G>A (p.Ala354Thr) rs145136257
NM_001360.2(DHCR7):c.1272C>T (p.Gly424=) rs909217
NM_001360.2(DHCR7):c.189G>A (p.Gln63=) rs1044482
NM_001360.2(DHCR7):c.231C>T (p.Thr77=) rs4316537
NM_001360.2(DHCR7):c.964-1G>C rs138659167
NM_001376.4(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622
NM_001376.4(DYNC1H1):c.10293C>T (p.Asn3431=) rs75075497
NM_001376.4(DYNC1H1):c.10522C>A (p.Leu3508Ile) rs149496322
NM_001376.4(DYNC1H1):c.11532G>A (p.Pro3844=) rs372511563
NM_001376.4(DYNC1H1):c.11596-7G>A rs375593873
NM_001376.4(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684
NM_001376.4(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889
NM_001376.4(DYNC1H1):c.12159A>T (p.Gly4053=) rs115992196
NM_001376.4(DYNC1H1):c.12513+10T>G rs17512839
NM_001376.4(DYNC1H1):c.13372+9G>A rs1004903
NM_001376.4(DYNC1H1):c.2025T>C (p.Asn675=) rs140154194
NM_001376.4(DYNC1H1):c.2721T>C (p.Ile907=) rs114021657
NM_001376.4(DYNC1H1):c.2737G>A (p.Val913Ile) rs372740994
NM_001376.4(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957
NM_001376.4(DYNC1H1):c.4075-6C>T rs377411812
NM_001376.4(DYNC1H1):c.409G>A (p.Val137Ile) rs143421325
NM_001376.4(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211
NM_001376.4(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439
NM_001376.4(DYNC1H1):c.5310C>T (p.Gly1770=) rs34013442
NM_001376.4(DYNC1H1):c.6795C>T (p.Tyr2265=) rs200339812
NM_001376.4(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094
NM_001376.4(DYNC1H1):c.7290C>T (p.Asn2430=) rs112811548
NM_001376.4(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029
NM_001376.4(DYNC1H1):c.9138G>T (p.Ser3046=) rs34338935
NM_001396.3(DYRK1A):c.2035G>C (p.Ala679Pro) rs55720916
NM_001396.3(DYRK1A):c.516+9A>G rs187936450
NM_001456.3(FLNA):c.1029C>T (p.Ser343=) rs199853721
NM_001456.3(FLNA):c.1239G>A (p.Thr413=) rs200278701
NM_001456.3(FLNA):c.237G>C (p.Ala79=) rs200626788
NM_001456.3(FLNA):c.2613C>T (p.Asp871=) rs188212919
NM_001456.3(FLNA):c.3379G>A (p.Val1127Met) rs398123617
NM_001456.3(FLNA):c.4599-1G>A rs1057518223
NM_001456.3(FLNA):c.5565C>T (p.Val1855=) rs200787122
NM_001456.3(FLNA):c.5948C>T (p.Ser1983Leu) rs187029309
NM_001458.4(FLNC):c.2382G>A (p.Ala794=) rs536456072
NM_001458.4(FLNC):c.3838C>T (p.Leu1280=) rs34180031
NM_001458.4(FLNC):c.5644A>G (p.Ile1882Val) rs184018403
NM_001482.2(GATM):c.1252T>C (p.Leu418=) rs1145086
NM_001482.2(GATM):c.330A>T (p.Gln110His) rs1288775
NM_001540.3(HSPB1):c.407G>T (p.Arg136Leu) rs863225022
NM_001540.3(HSPB1):c.523C>T (p.Gln175Ter) rs863225023
NM_001540.4(HSPB1):c.240A>G (p.Gln80=) rs377246178
NM_001540.4(HSPB1):c.36G>T (p.Arg12=) rs145369859
NM_001540.4(HSPB1):c.9G>A (p.Glu3=) rs77586767
NM_001681.3(ATP2A2):c.1167T>C (p.Tyr389=) rs115016152
NM_001681.3(ATP2A2):c.2628A>G (p.Lys876=) rs149324360
NM_001692.4(ATP6V1B1):c.144C>T (p.Asn48=) rs144845223
NM_001843.3(CNTN1):c.401-9C>T rs57340925
NM_001843.3(CNTN1):c.90T>C (p.His30=) rs61748365
NM_001844.4(COL2A1):c.3000G>A (p.Pro1000=) rs1793947
NM_001845.5(COL4A1):c.1055C>T (p.Pro352Leu) rs200786329
NM_001845.5(COL4A1):c.2160C>T (p.Gly720=) rs781133776
NM_001845.5(COL4A1):c.3288A>G (p.Pro1096=) rs2305082
NM_001845.5(COL4A1):c.3506-7C>G rs377592935
NM_001845.5(COL4A1):c.3877-8G>A rs370539477
NM_001845.5(COL4A1):c.4941G>A (p.Pro1647=) rs115834242
NM_001845.5(COL4A1):c.501C>T (p.Pro167=) rs16975612
NM_001848.2(COL6A1):c.1043C>T (p.Ser348Leu) rs142882745
NM_001848.2(COL6A1):c.170C>A (p.Ala57Asp) rs143502850
NM_001848.2(COL6A1):c.1957-5C>T rs78224483
NM_001848.2(COL6A1):c.2042T>C (p.Ile681Thr) rs138884734
NM_001848.2(COL6A1):c.2667G>A (p.Ala889=) rs1053315
NM_001848.2(COL6A1):c.2736C>T (p.Asp912=) rs13879
NM_001848.2(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001849.3(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828
NM_001849.3(COL6A2):c.1493G>A (p.Arg498His) rs267606749
NM_001849.3(COL6A2):c.1552C>T (p.Pro518Ser) rs141166141
NM_001849.3(COL6A2):c.1970-9G>A rs747900252
NM_001849.3(COL6A2):c.2160C>G (p.Arg720=) rs61735829
NM_001849.3(COL6A2):c.2163G>A (p.Gln721=) rs16978875
NM_001849.3(COL6A2):c.2803G>A (p.Gly935Arg) rs35548026
NM_001849.3(COL6A2):c.2980G>A (p.Ala994Thr) rs117931394
NM_001849.3(COL6A2):c.3017C>T (p.Ala1006Val) rs113169531
NM_001849.3(COL6A2):c.3043A>C (p.Ile1015Leu) rs11910483
NM_001849.3(COL6A2):c.679G>A (p.Asp227Asn) rs35881321
NM_001849.3(COL6A2):c.714+9C>T rs78822624
NM_001851.4(COL9A1):c.1066-3T>C rs16868869
NM_001851.4(COL9A1):c.1071T>C (p.Arg357=) rs607156
NM_001851.4(COL9A1):c.2299A>G (p.Met767Val) rs6910140
NM_001852.3(COL9A2):c.1062G>A (p.Pro354=) rs6676013
NM_001852.3(COL9A2):c.364-8C>T rs11207843
NM_001852.3(COL9A2):c.976_977delCAinsTG (p.Gln326Trp) rs137853213
NM_001853.4(COL9A3):c.887C>T (p.Pro296Leu) rs45628843
NM_001854.3(COL11A1):c.1872A>G (p.Pro624=) rs111841420
NM_001909.4(CTSD):c.100C>T (p.Arg34Trp) rs779278368
NM_001909.4(CTSD):c.1071+7G>A rs374010531
NM_001909.4(CTSD):c.111G>A (p.Ser37=) rs535140505
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.465T>C (p.Thr155=) rs11555039
NM_001909.4(CTSD):c.844G>A (p.Gly282Arg) rs147278302
NM_001909.4(CTSD):c.951C>T (p.Ala317=) rs78306946
NM_001927.3(DES):c.1257C>T (p.Pro419=) rs143154982
NM_001927.3(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.3(DES):c.243C>T (p.Ser81=) rs201594392
NM_001927.3(DES):c.372G>A (p.Glu124=) rs34365369
NM_001927.3(DES):c.408C>T (p.Leu136=) rs111828114
NM_001927.3(DES):c.638C>T (p.Ala213Val) rs41272699
NM_001953.4(TYMP):c.1412C>T (p.Ser471Leu) rs11479
NM_001958.3(EEF1A2):c.1266C>A (p.Gly422=) rs202102758
NM_001958.3(EEF1A2):c.54C>G (p.Ser18=) rs200759764
NM_002047.2(GARS):c.562G>A (p.Val188Ile) rs376772628
NM_002047.3(GARS):c.1761G>A (p.Thr587=) rs3886641
NM_002047.3(GARS):c.1962C>T (p.Ile654=) rs201927627
NM_002047.3(GARS):c.2212G>A (p.Glu738Lys) rs181251337
NM_002047.3(GARS):c.270C>T (p.Asp90=) rs369898799
NM_002047.3(GARS):c.408A>G (p.Gln136=) rs200279483
NM_002047.3(GARS):c.51G>A (p.Leu17=) rs202117737
NM_002047.3(GARS):c.747T>C (p.Tyr249=) rs7808770
NM_002047.3(GARS):c.803C>T (p.Thr268Ile) rs2230310
NM_002055.4(GFAP):c.140C>T (p.Pro47Leu) rs57474185
NM_002055.4(GFAP):c.462-8dupC rs572562362
NM_002055.4(GFAP):c.469G>A (p.Asp157Asn) rs59291670
NM_002055.4(GFAP):c.619-9C>G rs3744469
NM_002055.4(GFAP):c.675C>T (p.Asp225=) rs146443487
NM_002055.4(GFAP):c.715C>G (p.Arg239Gly) rs58064122
NM_002055.4(GFAP):c.848A>G (p.Asn283Ser) rs201382676
NM_002055.4(GFAP):c.957G>A (p.Arg319=) rs61733890
NM_002056.3(GFPT1):c.223+5C>T rs200631666
NM_002087.3(GRN):c.1227G>A (p.Thr409=) rs140298583
NM_002087.3(GRN):c.1297C>T (p.Arg433Trp) rs63750412
NM_002087.3(GRN):c.1477C>T (p.Arg493Ter) rs63751294
NM_002087.3(GRN):c.1544G>C (p.Gly515Ala) rs25647
NM_002087.3(GRN):c.1742A>T (p.Asp581Val) rs768223928
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.545C>T (p.Thr182Met) rs63750479
NM_002087.3(GRN):c.546G>A (p.Thr182=) rs138473783
NM_002087.3(GRN):c.55C>T (p.Arg19Trp) rs63750723
NM_002087.3(GRN):c.835+7G>A rs72824736
NM_002087.3(GRN):c.903G>A (p.Ser301=) rs63750142
NM_002087.3(GRN):c.99C>T (p.Asp33=) rs63750742
NM_002156.4(HSPD1):c.425G>A (p.Arg142Lys) rs61755731
NM_002180.2(IGHMBP2):c.1669C>G (p.Pro557Ala) rs7122089
NM_002180.2(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762
NM_002180.2(IGHMBP2):c.2322A>G (p.Glu774=) rs11228414
NM_002180.2(IGHMBP2):c.2782G>A (p.Glu928Lys) rs2275996
NM_002180.2(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615
NM_002180.2(IGHMBP2):c.548-10T>G rs139207271
NM_002206.2(ITGA7):c.2433-5G>A rs79745402
NM_002206.2(ITGA7):c.3031T>C (p.Leu1011=) rs17117879
NM_002222.5(ITPR1):c.1881C>T (p.Asn627=) rs61757106
NM_002222.5(ITPR1):c.2235G>T (p.Leu745=) rs375801584
NM_002222.5(ITPR1):c.255C>T (p.Asp85=) rs367814655
NM_002222.5(ITPR1):c.3255+4G>A rs2306878
NM_002222.5(ITPR1):c.3873T>C (p.Asn1291=) rs193212750
NM_002222.5(ITPR1):c.4216A>G (p.Ile1406Val) rs3749383
NM_002222.5(ITPR1):c.4782C>T (p.Ser1594=) rs373127487
NM_002222.5(ITPR1):c.6909C>T (p.Gly2303=) rs41290672
NM_002222.5(ITPR1):c.6910G>A (p.Ala2304Thr) rs201144431
NM_002222.5(ITPR1):c.7200C>T (p.Phe2400=) rs200487406
NM_002222.5(ITPR1):c.7320T>C (p.Asp2440=) rs79720149
NM_002222.5(ITPR1):c.952-6C>T rs139421901
NM_002241.4(KCNJ10):c.136G>A (p.Asp46Asn) rs141553756
NM_002241.4(KCNJ10):c.53G>A (p.Arg18Gln) rs115466046
NM_002247.3(KCNMA1):c.1320C>T (p.Ile440=) rs45617636
NM_002247.3(KCNMA1):c.135_137delCTC (p.Ser60del) rs572827902
NM_002247.3(KCNMA1):c.153_155delTTC (p.Ser60del) rs751901610
NM_002247.3(KCNMA1):c.2015+7G>A rs78670694
NM_002247.3(KCNMA1):c.54_56dup (p.Gly20_Ser21insGly) rs760628050
NM_002247.3(KCNMA1):c.687C>T (p.Phe229=) rs1131824
NM_002247.3(KCNMA1):c.90C>T (p.His30=) rs75040504
NM_002292.3(LAMB2):c.1193C>T (p.Thr398Ile) rs77500937
NM_002292.3(LAMB2):c.1206G>A (p.Arg402=) rs201999373
NM_002292.3(LAMB2):c.2740G>A (p.Gly914Arg) rs35713889
NM_002292.3(LAMB2):c.4774C>T (p.Arg1592Trp) rs61729458
NM_002292.3(LAMB2):c.5026G>A (p.Gly1676Arg) rs200747448
NM_002292.3(LAMB2):c.5027G>T (p.Gly1676Val) rs199580679
NM_002296.3(LBR):c.1071G>A (p.Ser357=) rs112582692
NM_002296.3(LBR):c.1609T>G (p.Ser537Ala) rs80299691
NM_002303.5(LEPR):c.1029T>C (p.Ser343=) rs1805134
NM_002303.5(LEPR):c.1968G>C (p.Lys656Asn) rs1805094
NM_002335.3(LRP5):c.2220C>T (p.Asn740=) rs2306862
NM_002335.3(LRP5):c.4788C>T (p.Thr1596=) rs113442867
NM_002437.4(MPV17):c.149G>A (p.Arg50Gln) rs121909721
NM_002473.5(MYH9):c.165C>T (p.Ile55=) rs141948797
NM_002529.3(NTRK1):c.1810C>T (p.His604Tyr) rs6336
NM_002547.2(OPHN1):c.115G>A (p.Val39Ile) rs41303733
NM_002547.2(OPHN1):c.133G>A (p.Ala45Thr) rs148262378
NM_002547.2(OPHN1):c.1839A>G (p.Glu613=) rs146588152
NM_002578.4(PAK3):c.483A>G (p.Ala161=) rs146801179
NM_002578.4(PAK3):c.531G>A (p.Glu177=) rs56270341
NM_002693.2(POLG):c.1126C>T (p.Leu376=) rs116165908
NM_002693.2(POLG):c.1174C>G (p.Leu392Val) rs145289229
NM_002693.2(POLG):c.1399G>A (p.Ala467Thr) rs113994095
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) rs145843073
NM_002693.2(POLG):c.150G>A (p.Gln50=) rs766501874
NM_002693.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_002693.2(POLG):c.158_159delAAinsCT (p.Gln53Pro) rs1064795981
NM_002693.2(POLG):c.1636C>T (p.Arg546Cys) rs2307447
NM_002693.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_002693.2(POLG):c.1837C>T (p.His613Tyr) rs147407423
NM_002693.2(POLG):c.1905G>T (p.Pro635=) rs550592814
NM_002693.2(POLG):c.2028G>A (p.Ala676=) rs373550219
NM_002693.2(POLG):c.2207A>G (p.Asn736Ser) rs138457939
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.2246T>C (p.Phe749Ser) rs202037973
NM_002693.2(POLG):c.2541C>T (p.Ala847=) rs143810171
NM_002693.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_002693.2(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.2(POLG):c.2665G>A (p.Ala889Thr) rs763393580
NM_002693.2(POLG):c.2853C>T (p.Tyr951=) rs41546712
NM_002693.2(POLG):c.2958C>T (p.Tyr986=) rs2307431
NM_002693.2(POLG):c.2994G>C (p.Ser998=) rs567030498
NM_002693.2(POLG):c.3105-16_3105-15delGT rs146915033
NM_002693.2(POLG):c.3198G>A (p.Thr1066=) rs61752780
NM_002693.2(POLG):c.32G>A rs765472726
NM_002693.2(POLG):c.3428A>G (p.Glu1143Gly) rs2307441
NM_002693.2(POLG):c.3436C>T (p.Arg1146Cys) rs2307440
NM_002693.2(POLG):c.3444C>T (p.Arg1148=) rs374937961
NM_002693.2(POLG):c.3519G>A (p.Leu1173=) rs953889846
NM_002693.2(POLG):c.3559C>T (p.Arg1187Trp) rs369544574
NM_002693.2(POLG):c.3564C>T (p.Cys1188=) rs146584956
NM_002693.2(POLG):c.3700C>A (p.Arg1234=) rs144346886
NM_002693.2(POLG):c.678G>C (p.Gln226His) rs147282197
NM_002693.2(POLG):c.803G>C (p.Gly268Ala) rs61752784
NM_002693.2(POLG):c.852C>T (p.Ile284=) rs41540414
NM_002693.2(POLG):c.856-5_856-3delCTC rs200056162
NM_002693.2(POLG):c.970C>T (p.Pro324Ser) rs2307437
NM_002739.3(PRKCG):c.2075T>G (p.Val692Gly) rs78437096
NM_002739.4(PRKCG):c.1722C>T (p.Tyr574=) rs34616316
NM_002739.4(PRKCG):c.285C>T (p.Asp95=) rs17854523
NM_002739.4(PRKCG):c.356C>T (p.Ser119Phe) rs386134163
NM_002739.4(PRKCG):c.380A>G (p.Gln127Arg) rs121918515
NM_002739.4(PRKCG):c.567T>C (p.Asn189=) rs3745406
NM_002775.4(HTRA1):c.102C>T (p.Ala34=) rs1049331
NM_002775.4(HTRA1):c.108G>C (p.Gly36=) rs2293870
NM_002775.4(HTRA1):c.108G>T (p.Gly36=) rs2293870
NM_002775.4(HTRA1):c.1221C>T (p.Asp407=) rs11538140
NM_002775.4(HTRA1):c.1274+8G>A rs2672586
NM_002775.4(HTRA1):c.59C>T (p.Ala20Val) rs369149111
NM_002775.4(HTRA1):c.753C>T (p.Ile251=) rs17624021
NM_002775.4(HTRA1):c.879C>T (p.Thr293=) rs149294320
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002968.2(SALL1):c.379G>C (p.Val127Leu) rs138635817
NM_002977.3(SCN9A):c.1119T>C (p.Ala373=) rs13414203
NM_002977.3(SCN9A):c.1266A>G (p.Glu422=) rs13402180
NM_002977.3(SCN9A):c.1287T>A (p.Arg429=) rs6747673
NM_002977.3(SCN9A):c.1398C>T (p.Ser466=) rs201531206
NM_002977.3(SCN9A):c.174G>A (p.Gln58=) rs6432901
NM_002977.3(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_002977.3(SCN9A):c.1964A>G (p.Lys655Arg) rs121908919
NM_002977.3(SCN9A):c.2733C>T (p.Arg911=) rs199653503
NM_002977.3(SCN9A):c.2931C>T (p.Leu977=) rs201430964
NM_002977.3(SCN9A):c.3328C>T (p.Arg1110Trp) rs190664764
NM_002977.3(SCN9A):c.3476T>C (p.Ile1159Thr) rs73019664
NM_002977.3(SCN9A):c.3734A>G (p.Asn1245Ser) rs141268327
NM_002977.3(SCN9A):c.3769-4A>G rs75230218
NM_002977.3(SCN9A):c.444A>G (p.Pro148=) rs9646771
NM_002977.3(SCN9A):c.4612T>C (p.Trp1538Arg) rs202084411
NM_002977.3(SCN9A):c.4779G>T (p.Val1593=) rs149207258
NM_002977.3(SCN9A):c.554G>A (p.Arg185His) rs73969684
NM_002977.3(SCN9A):c.5746C>T (p.Leu1916Phe) rs111558968
NM_002977.3(SCN9A):c.5758G>C (p.Asp1920His) rs200410805
NM_002977.3(SCN9A):c.684C>G (p.Ile228Met) rs71428908
NM_003000.2(SDHB):c.158G>A (p.Gly53Glu) rs34916635
NM_003000.2(SDHB):c.380T>G (p.Ile127Ser) rs786201095
NM_003000.2(SDHB):c.418G>T (p.Val140Phe) rs267607032
NM_003035.2(STIL):c.1452C>G (p.Ser484=) rs10789505
NM_003035.2(STIL):c.257C>T (p.Ala86Val) rs3125630
NM_003035.2(STIL):c.2951A>G (p.His984Arg) rs13376679
NM_003035.2(STIL):c.3375A>G (p.Arg1125=) rs142315727
NM_003042.3(SLC6A1):c.1243C>A (p.Leu415Ile) rs112095333
NM_003042.3(SLC6A1):c.1531G>A (p.Val511Met) rs1064794981
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.3(SPG7):c.1045G>A (p.Gly349Ser) rs141659620
NM_003119.3(SPG7):c.1083G>A (p.Ala361=) rs114135540
NM_003119.3(SPG7):c.1324+10C>T rs202070075
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del) rs768823392
NM_003119.3(SPG7):c.1457G>A (p.Arg486Gln) rs111475461
NM_003119.3(SPG7):c.1507A>G (p.Thr503Ala) rs2292954
NM_003119.3(SPG7):c.1770C>T (p.Ala590=) rs60488729
NM_003119.3(SPG7):c.2037G>A (p.Ala679=) rs79756036
NM_003119.3(SPG7):c.2063G>A (p.Arg688Gln) rs12960
NM_003119.3(SPG7):c.2084T>C (p.Leu695Pro) rs864622094
NM_003119.3(SPG7):c.2096dupT (p.Met699Ilefs) rs747503698
NM_003119.3(SPG7):c.2188A>G (p.Asn730Asp) rs35749032
NM_003119.3(SPG7):c.2295C>T (p.Asp765=) rs61747712
NM_003119.3(SPG7):c.233T>A (p.Leu78Ter) rs121918358
NM_003119.3(SPG7):c.376G>C (p.Glu126Gln) rs912983346
NM_003119.3(SPG7):c.4G>A (p.Ala2Thr) rs535030441
NM_003119.3(SPG7):c.976_987+3delGATTATCTGAAGGTG rs878854606
NM_003159.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616
NM_003165.3(STXBP1):c.1320C>T (p.Ile440=) rs370249358
NM_003165.3(STXBP1):c.281C>T (p.Pro94Leu) rs200802985
NM_003165.3(STXBP1):c.325+8C>T rs117372398
NM_003165.3(STXBP1):c.627C>T (p.Leu209=) rs567071026
NM_003165.3(STXBP1):c.6C>T (p.Ala2=) rs144094037
NM_003165.3(STXBP1):c.846C>T (p.Asp282=) rs58889246
NM_003165.3(STXBP1):c.888C>T (p.Ile296=) rs201302013
NM_003179.2(SYP):c.687C>T (p.Ala229=) rs201427270
NM_003289.3(TPM2):c.773-4_773-3insA rs1554658501
NM_003319.4(TTN):c.12960C>T (p.Ser4320=) rs370208081
NM_003319.4(TTN):c.55602C>T (p.Gly18534=) rs72648216
NM_003334.3(UBA1):c.2308A>C (p.Asn770His) rs143044923
NM_003384.2(VRK1):c.705C>T (p.Gly235=) rs2230532
NM_003482.3(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282
NM_003482.3(KMT2D):c.11670C>T (p.Ser3890=) rs376471354
NM_003482.3(KMT2D):c.12028T>C (p.Ser4010Pro) rs80132640
NM_003482.3(KMT2D):c.2156C>T (p.Pro719Leu) rs185660524
NM_003482.3(KMT2D):c.5220C>T (p.Ala1740=) rs200369026
NM_003482.3(KMT2D):c.5874C>T (p.Arg1958=) rs182887940
NM_003482.3(KMT2D):c.6435G>A (p.Pro2145=) rs374077422
NM_003482.3(KMT2D):c.6573G>A (p.Thr2191=) rs202085637
NM_003482.3(KMT2D):c.7109G>C (p.Arg2370Pro) rs373234419
NM_003482.3(KMT2D):c.7198C>G (p.Pro2400Ala) rs35111108
NM_003482.3(KMT2D):c.7656T>C (p.Pro2552=) rs774043426
NM_003482.3(KMT2D):c.7998C>A (p.Asp2666Glu) rs1258008817
NM_003482.3(KMT2D):c.8774C>T (p.Ala2925Val) rs199547661
NM_003494.3(DYSF):c.1053+1G>A rs398123763
NM_003494.3(DYSF):c.1120G>C (p.Val374Leu) rs150724610
NM_003494.3(DYSF):c.1180+5G>A rs766433603
NM_003494.3(DYSF):c.1192G>A (p.Val398Met) rs144202114
NM_003494.3(DYSF):c.1311G>A (p.Thr437=) rs150093305
NM_003494.3(DYSF):c.1351A>G (p.Met451Val) rs141818764
NM_003494.3(DYSF):c.1369G>A (p.Glu457Lys) rs61740288
NM_003494.3(DYSF):c.1422C>T (p.Ile474=) rs34387018
NM_003494.3(DYSF):c.1827T>C (p.Asp609=) rs2303596
NM_003494.3(DYSF):c.1852G>C (p.Gly618Arg) rs201049092
NM_003494.3(DYSF):c.1877T>C (p.Met626Thr) rs141867897
NM_003494.3(DYSF):c.1966A>G (p.Lys656Glu) rs139754493
NM_003494.3(DYSF):c.202G>C (p.Val68Leu) rs114986640
NM_003494.3(DYSF):c.222G>A (p.Thr74=) rs200957354
NM_003494.3(DYSF):c.2583A>T (p.Ser861=) rs2288355
NM_003494.3(DYSF):c.2588A>C (p.Asp863Ala) rs35884879
NM_003494.3(DYSF):c.2643+1G>A rs140108514
NM_003494.3(DYSF):c.2763G>A (p.Ser921=) rs148902254
NM_003494.3(DYSF):c.3283C>T (p.Arg1095Cys) rs141536854
NM_003494.3(DYSF):c.3517dupT (p.Ser1173Phefs) rs766341386
NM_003494.3(DYSF):c.3534C>T (p.Ile1178=) rs79899601
NM_003494.3(DYSF):c.3725G>A (p.Arg1242His) rs2303603
NM_003494.3(DYSF):c.3798G>A (p.Pro1266=) rs139983909
NM_003494.3(DYSF):c.3892A>G (p.Ile1298Val) rs121908954
NM_003494.3(DYSF):c.393C>T (p.Pro131=) rs34603128
NM_003494.3(DYSF):c.3973A>G (p.Ile1325Val) rs145401010
NM_003494.3(DYSF):c.4008C>A (p.Ile1336=) rs2303606
NM_003494.3(DYSF):c.4089C>T (p.Gly1363=) rs145412880
NM_003494.3(DYSF):c.4199C>G (p.Pro1400Arg) rs138268837
NM_003494.3(DYSF):c.4253G>A (p.Gly1418Asp) rs398123787
NM_003494.3(DYSF):c.4323G>A (p.Gln1441=) rs76576806
NM_003494.3(DYSF):c.4374C>T (p.Ile1458=) rs145690047
NM_003494.3(DYSF):c.4742G>A (p.Arg1581His) rs185596534
NM_003494.3(DYSF):c.4820T>C (p.Ile1607Thr) rs146384562
NM_003494.3(DYSF):c.4941C>A (p.Leu1647=) rs141476432
NM_003494.3(DYSF):c.5026G>T (p.Ala1676Ser) rs141137410
NM_003494.3(DYSF):c.5077C>T (p.Arg1693Trp) rs863225021
NM_003494.3(DYSF):c.5303G>A (p.Arg1768Gln) rs148860301
NM_003494.3(DYSF):c.5386C>T (p.Arg1796Trp) rs139879284
NM_003494.3(DYSF):c.5626G>A (p.Asp1876Asn) rs115013641
NM_003494.3(DYSF):c.5859A>C (p.Pro1953=) rs17718530
NM_003494.3(DYSF):c.6057-9C>T rs201070766
NM_003494.3(DYSF):c.942C>T (p.His314=) rs36122356
NM_003588.3(CUL4B):c.1911C>T (p.Cys637=) rs148700620
NM_003611.2(OFD1):c.*3A>G rs183202009
NM_003673.3(TCAP):c.313G>C (p.Glu105Gln) rs146906267
NM_003673.3(TCAP):c.353C>T (p.Ala118Val) rs143233087
NM_003688.3(CASK):c.2040-9A>G rs138290714
NM_003793.3(CTSF):c.1261C>T (p.Arg421Trp) rs28464796
NM_003793.3(CTSF):c.126C>T (p.Pro42=) rs1044522
NM_003850.2(SUCLA2):c.1099G>A (p.Asp367Asn) rs117412559
NM_003850.2(SUCLA2):c.110T>G (p.Leu37Trp) rs62636645
NM_003850.2(SUCLA2):c.510A>G (p.Ala170=) rs35568795
NM_003895.3(SYNJ1):c.160C>T (p.Pro54Ser) rs61755328
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) rs368850131
NM_003895.3(SYNJ1):c.3707C>T (p.Thr1236Met) rs145937537
NM_003896.3(ST3GAL5):c.155G>A (p.Arg52Gln) rs141917910
NM_003896.3(ST3GAL5):c.37C>T (p.Pro13Ser) rs559756386
NM_003896.3(ST3GAL5):c.648C>T (p.Phe216=) rs149309844
NM_003900.4(SQSTM1):c.876C>T (p.Asp292=) rs4935
NM_003900.4(SQSTM1):c.936G>A (p.Arg312=) rs4797
NM_003900.4(SQSTM1):c.961C>T (p.Arg321Cys) rs140226523
NM_003900.4(SQSTM1):c.996A>G (p.Ser332=) rs141436407
NM_003907.3(EIF2B5):c.1759A>G (p.Ile587Val) rs843358
NM_003919.2(SGCE):c.551T>C (p.Leu184Pro) rs1064794321
NM_003919.2(SGCE):c.606A>G (p.Thr202=) rs148979783
NM_004004.5(GJB2):c.-15C>T rs72561725
NM_004004.5(GJB2):c.-45C>A rs397516868
NM_004004.5(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004004.5(GJB2):c.107T>C (p.Leu36Pro) rs587783644
NM_004004.5(GJB2):c.131G>A (p.Trp44Ter) rs104894413
NM_004004.5(GJB2):c.167delT (p.Leu56Argfs) rs80338942
NM_004004.5(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.5(GJB2):c.235delC (p.Leu79Cysfs) rs80338943
NM_004004.5(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.5(GJB2):c.283G>A (p.Val95Met) rs111033299
NM_004004.5(GJB2):c.31_68del38 (p.Gly11Leufs) rs397516873
NM_004004.5(GJB2):c.334_335delAA (p.Lys112Glufs) rs756484720
NM_004004.5(GJB2):c.358_360delGAG (p.Glu120del) rs80338947
NM_004004.5(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004004.5(GJB2):c.35delG (p.Gly12Valfs) rs80338939
NM_004004.5(GJB2):c.647_650delGATA (p.Arg216Ilefs) rs587783647
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.35dup (p.Val13Cysfs) rs80338939
NM_004006.2(DMD):c.1028G>A (p.Arg343His) rs61733589
NM_004006.2(DMD):c.1503A>G (p.Glu501=) rs770464589
NM_004006.2(DMD):c.1635A>G (p.Arg545=) rs5927083
NM_004006.2(DMD):c.1666G>A (p.Asp556Asn) rs182708940
NM_004006.2(DMD):c.1809G>A (p.Leu603=) rs192176661
NM_004006.2(DMD):c.1812+1G>A rs373286166
NM_004006.2(DMD):c.1869C>T (p.Leu623=) rs1800267
NM_004006.2(DMD):c.2971G>C (p.Glu991Gln) rs72468667
NM_004006.2(DMD):c.3705C>T (p.Ala1235=) rs143628111
NM_004006.2(DMD):c.3970C>T (p.Arg1324Cys) rs143184877
NM_004006.2(DMD):c.4072-3T>C rs751657094
NM_004006.2(DMD):c.4233+2C>T rs147474070
NM_004006.2(DMD):c.4878G>T (p.Val1626=) rs61733574
NM_004006.2(DMD):c.5234G>A (p.Arg1745His) rs1801187
NM_004006.2(DMD):c.5724T>C (p.Asp1908=) rs143159113
NM_004006.2(DMD):c.5899C>T (p.Arg1967Ter) rs128626249
NM_004006.2(DMD):c.5984A>T (p.Tyr1995Phe) rs147927593
NM_004006.2(DMD):c.6463C>T (p.Arg2155Trp) rs1800273
NM_004006.2(DMD):c.6571C>T (p.Arg2191Trp) rs149322279
NM_004006.2(DMD):c.7183G>A (p.Ala2395Thr) rs72466590
NM_004006.2(DMD):c.7397T>C (p.Met2466Thr) rs764330616
NM_004006.2(DMD):c.7728T>C (p.Asn2576=) rs1801188
NM_004006.2(DMD):c.802T>C (p.Leu268=) rs1800264
NM_004006.2(DMD):c.8138A>G (p.Asn2713Ser) rs758633794
NM_004006.2(DMD):c.837G>A (p.Thr279=) rs1800265
NM_004006.2(DMD):c.8729A>T (p.Glu2910Val) rs41305353
NM_004006.2(DMD):c.8734A>G (p.Asn2912Asp) rs1800278
NM_004006.2(DMD):c.94-9dupT rs3834997
NM_004082.4(DCTN1):c.1288-3C>T rs72466490
NM_004082.4(DCTN1):c.2278A>G (p.Met760Val) rs754780894
NM_004082.4(DCTN1):c.3498G>A (p.Thr1166=) rs142030960
NM_004082.4(DCTN1):c.3519C>T (p.Arg1173=) rs146094433
NM_004082.4(DCTN1):c.3594C>T (p.Thr1198=) rs115689748
NM_004082.4(DCTN1):c.442C>T (p.Arg148Trp) rs148810193
NM_004082.4(DCTN1):c.586A>G (p.Ile196Val) rs55862001
NM_004082.4(DCTN1):c.837G>A (p.Ala279=) rs72466489
NM_004098.3(EMX2):c.173_178delCCGCCG (p.Ala58_Ala59del) rs756693906
NM_004115.3(FGF14):c.636T>C (p.His212=) rs41281644
NM_004172.4(SLC1A3):c.1154G>A (p.Arg385His) rs115702388
NM_004172.4(SLC1A3):c.15T>C (p.Asn5=) rs143791614
NM_004172.4(SLC1A3):c.212A>G (p.Tyr71Cys) rs573483474
NM_004172.4(SLC1A3):c.320-7C>T rs200867287
NM_004172.4(SLC1A3):c.676C>G (p.Arg226Gly) rs201069745
NM_004281.3(BAG3):c.212G>A (p.Arg71Gln) rs35434411
NM_004281.3(BAG3):c.230C>T (p.Pro77Leu) rs141355480
NM_004281.3(BAG3):c.280A>T (p.Ile94Phe) rs145393807
NM_004281.3(BAG3):c.474_476dupGGC (p.Ala160_Gln161insAla) rs139438727
NM_004287.4(GOSR2):c.200G>A (p.Arg67Lys) rs197922
NM_004287.4(GOSR2):c.7C>A (p.Pro3Thr) rs12944167
NM_004315.5(ASAH1):c.1153G>A (p.Val385Ile) rs17636067
NM_004315.5(ASAH1):c.420T>A (p.Asp140Glu) rs2472205
NM_004315.5(ASAH1):c.677T>C (p.Met226Thr) rs141068211
NM_004320.4(ATP2A1):c.100G>T (p.Glu34Ter) rs141559558
NM_004321.7(KIF1A):c.184-10C>T rs7594776
NM_004321.7(KIF1A):c.204G>T (p.Ala68=) rs141052770
NM_004321.7(KIF1A):c.2655G>C (p.Val885=) rs186881889
NM_004321.7(KIF1A):c.2676C>T (p.Ala892=) rs116297894
NM_004321.7(KIF1A):c.2899+10C>A rs190997558
NM_004321.7(KIF1A):c.3042C>G (p.Ala1014=) rs370286749
NM_004321.7(KIF1A):c.3549T>C (p.His1183=) rs184931664
NM_004321.7(KIF1A):c.3585C>T (p.Arg1195=) rs144520412
NM_004321.7(KIF1A):c.4301C>T (p.Ala1434Val) rs141441058
NM_004321.7(KIF1A):c.4446C>T (p.Ser1482=) rs371737085
NM_004321.7(KIF1A):c.4572G>A (p.Pro1524=) rs201418175
NM_004321.7(KIF1A):c.4586G>A (p.Arg1529Gln) rs191428830
NM_004369.3(COL6A3):c.1786G>T (p.Ala596Ser) rs34934127
NM_004369.3(COL6A3):c.1976G>A (p.Arg659His) rs36092870
NM_004369.3(COL6A3):c.2030G>A (p.Arg677His) rs35227432
NM_004369.3(COL6A3):c.2419G>A (p.Ala807Thr) rs113155945
NM_004369.3(COL6A3):c.2488G>T (p.Ala830Ser) rs77181645
NM_004369.3(COL6A3):c.4727G>A (p.Arg1576Gln) rs61729839
NM_004369.3(COL6A3):c.6945C>T (p.Phe2315=) rs2646265
NM_004369.3(COL6A3):c.6981A>G (p.Glu2327=) rs35993209
NM_004369.3(COL6A3):c.7086A>C (p.Gly2362=) rs35902696
NM_004369.3(COL6A3):c.7509G>A (p.Arg2503=) rs34181055
NM_004369.3(COL6A3):c.7512C>T (p.Asn2504=) rs2646258
NM_004369.3(COL6A3):c.7645C>T (p.Arg2549Trp) rs151079701
NM_004369.3(COL6A3):c.7842C>T (p.Ser2614=) rs34558385
NM_004369.3(COL6A3):c.7928C>T (p.Ala2643Val) rs111595697
NM_004369.3(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455
NM_004369.3(COL6A3):c.8451A>G (p.Pro2817=) rs61729844
NM_004369.3(COL6A3):c.8820G>A (p.Thr2940=) rs11683438
NM_004369.3(COL6A3):c.882C>T (p.Phe294=) rs7561625
NM_004369.3(COL6A3):c.8962A>G (p.Met2988Val) rs11690358
NM_004369.3(COL6A3):c.9123G>A (p.Thr3041=) rs61729843
NM_004393.5(DAG1):c.259A>G (p.Ile87Val) rs116717961
NM_004393.5(DAG1):c.331G>A (p.Asp111Asn) rs117209107
NM_004452.3(ESRRB):c.141G>C (p.Leu47=) rs61744548
NM_004484.3(GPC3):c.1167-8T>C rs182950534
NM_004484.3(GPC3):c.1285G>A (p.Val429Met) rs11539789
NM_004519.3(KCNQ3):c.1551C>T (p.Ala517=) rs35538317
NM_004519.3(KCNQ3):c.1885G>C (p.Val629Leu) rs185511111
NM_004519.3(KCNQ3):c.2263G>A (p.Asp755Asn) rs150821246
NM_004519.3(KCNQ3):c.2306C>A (p.Pro769His) rs114095081
NM_004526.3(MCM2):c.1186G>A (p.Ala396Thr) rs3087450
NM_004543.4(NEB):c.10296G>A (p.Thr3432=) rs199789085
NM_004543.4(NEB):c.11040T>C (p.Ile3680=) rs80320923
NM_004543.4(NEB):c.13010A>G (p.Asn4337Ser) rs16830236
NM_004543.4(NEB):c.14208C>T (p.Ser4736=) rs16830216
NM_004543.4(NEB):c.15941C>G (p.Ser5314Cys) rs62167164
NM_004543.4(NEB):c.16416C>T (p.Ser5472=) rs16830170
NM_004543.4(NEB):c.16443C>T (p.Asn5481=) rs149510427
NM_004543.4(NEB):c.16617C>T (p.Tyr5539=) rs34718443
NM_004543.4(NEB):c.1675-9T>G rs75118047
NM_004543.4(NEB):c.177G>A (p.Gln59=) rs200990309
NM_004543.4(NEB):c.18392C>T (p.Thr6131Ile) rs34368668
NM_004543.4(NEB):c.19470A>G (p.Gln6490=) rs184319249
NM_004543.4(NEB):c.1981C>T (p.Leu661=) rs146460133
NM_004543.4(NEB):c.2640C>T (p.Arg880=) rs114959904
NM_004543.4(NEB):c.3191A>G (p.Tyr1064Cys) rs187343008
NM_004543.4(NEB):c.3412A>G (p.Asn1138Asp) rs117048449
NM_004543.4(NEB):c.3623T>C (p.Ile1208Thr) rs201141958
NM_004543.4(NEB):c.3636C>T (p.Asp1212=) rs144376972
NM_004543.4(NEB):c.3775-6T>C rs80232472
NM_004543.4(NEB):c.4980C>T (p.Pro1660=) rs142074817
NM_004543.4(NEB):c.5102T>C (p.Val1701Ala) rs117271684
NM_004543.4(NEB):c.5567G>A (p.Arg1856Gln) rs141930814
NM_004543.4(NEB):c.5968G>A (p.Glu1990Lys) rs146310692
NM_004543.4(NEB):c.612+8T>C rs113095802
NM_004543.4(NEB):c.8189A>G (p.Asp2730Gly) rs76767949
NM_004543.4(NEB):c.8318G>A (p.Arg2773Gln) rs35974308
NM_004562.2(PRKN):c.719C>T (p.Thr240Met) rs137853054
NM_004562.2(PRKN):c.783A>G (p.Leu261=) rs9456711
NM_004595.4(SMS):c.1026A>C (p.Ser342=) rs61732077
NM_004614.4(TK2):c.94C>T (p.Arg32Trp) rs200121712
NM_004637.5(RAB7A):c.219C>T (p.Leu73=) rs4548
NM_004637.5(RAB7A):c.423C>G (p.Ala141=) rs61758751
NM_004637.5(RAB7A):c.87G>A (p.Val29=) rs145441548
NM_004646.3(NPHS1):c.1170+8G>A rs140808195
NM_004646.3(NPHS1):c.1223G>A (p.Arg408Gln) rs33950747
NM_004646.3(NPHS1):c.1320C>T (p.Pro440=) rs392702
NM_004646.3(NPHS1):c.1638T>G (p.Thr546=) rs115444936
NM_004646.3(NPHS1):c.1930+10C>T rs76131336
NM_004646.3(NPHS1):c.2289C>T (p.Val763=) rs437168
NM_004646.3(NPHS1):c.2417C>A (p.Ala806Asp) rs386833912
NM_004646.3(NPHS1):c.2663+2T>G rs762392183
NM_004646.3(NPHS1):c.3230A>G (p.Asn1077Ser) rs4806213
NM_004646.3(NPHS1):c.3315G>A (p.Ser1105=) rs2071327
NM_004646.3(NPHS1):c.349G>A (p.Glu117Lys) rs3814995
NM_004646.3(NPHS1):c.3562G>A (p.Ala1188Thr) rs116700257
NM_004646.3(NPHS1):c.3595-9G>T rs77309273
NM_004646.3(NPHS1):c.43G>C (p.Gly15Arg) rs73928330
NM_004646.3(NPHS1):c.563A>T (p.Asn188Ile) rs145125791
NM_004646.3(NPHS1):c.565G>T (p.Glu189Ter) rs139598219
NM_004646.3(NPHS1):c.614_621delCACCCCGGinsTT (p.Thr205_Arg207delinsIle) rs1555763603
NM_004646.3(NPHS1):c.697A>G (p.Thr233Ala) rs35238405
NM_004733.3(SLC33A1):c.136G>A (p.Glu46Lys) rs149571533
NM_004737.6(LARGE1):c.163A>G (p.Thr55Ala) rs34642406
NM_004737.6(LARGE1):c.1644C>T (p.Asn548=) rs113253213
NM_004737.6(LARGE1):c.165G>C (p.Thr55=) rs63446460
NM_004737.6(LARGE1):c.1788G>A (p.Ala596=) rs74550830
NM_004737.6(LARGE1):c.1994G>A (p.Arg665His) rs1046166
NM_004737.6(LARGE1):c.391G>A (p.Val131Ile) rs56239539
NM_004737.6(LARGE1):c.435C>T (p.Ala145=) rs86487
NM_004738.4(VAPB):c.492C>T (p.Thr164=) rs139884809
NM_004782.3(SNAP29):c.-8C>G rs186825747
NM_004782.3(SNAP29):c.234C>G (p.Ser78=) rs144160898
NM_004817.4(TJP2):c.1917C>T (p.Asp639=) rs12340440
NM_004820.4(CYP7B1):c.1456C>T (p.Arg486Cys) rs116171274
NM_004820.4(CYP7B1):c.56T>C (p.Leu19Pro) rs72554624
NM_004820.4(CYP7B1):c.971G>A (p.Arg324His) rs59035258
NM_004862.3(LITAF):c.27G>A (p.Ala9=) rs149518815
NM_004862.3(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_004960.3(FUS):c.1156C>A (p.Arg386=) rs61733965
NM_004960.3(FUS):c.1292C>T (p.Pro431Leu) rs186547381
NM_004960.3(FUS):c.524-5C>T rs73530287
NM_004960.3(FUS):c.684_686dupCGG (p.Gly231_Tyr232insGly) rs72550890
NM_004977.2(KCNC3):c.123G>T (p.Gln41His) rs185017345
NM_004977.2(KCNC3):c.23C>G (p.Ser8Trp) rs761806977
NM_004977.2(KCNC3):c.315G>C (p.Thr105=) rs368049323
NM_004980.4(KCND3):c.1062C>A (p.Ile354=) rs150934088
NM_004980.4(KCND3):c.1106+10C>T rs377267051
NM_004980.4(KCND3):c.1354G>A (p.Glu452Lys) rs200532657
NM_004980.4(KCND3):c.1798G>A (p.Gly600Arg) rs149344567
NM_004980.4(KCND3):c.459G>A (p.Ser153=) rs755206508
NM_004980.4(KCND3):c.5C>A (p.Ala2Glu) rs201340369
NM_004980.4(KCND3):c.633G>T (p.Pro211=) rs35131566
NM_004984.3(KIF5A):c.1150G>C (p.Gly384Arg) rs143326964
NM_004984.3(KIF5A):c.2040G>A (p.Val680=) rs117670788
NM_004984.3(KIF5A):c.2957C>T (p.Pro986Leu) rs113247976
NM_004984.3(KIF5A):c.827A>G (p.Tyr276Cys) rs121434443
NM_004984.3(KIF5A):c.839G>A (p.Arg280His) rs387907288
NM_004992.3(MECP2):c.1422T>C (p.Pro474=) rs1557134910
NM_004992.3(MECP2):c.375C>A (p.Ile125=) rs146107517
NM_004992.3(MECP2):c.397C>T (p.Arg133Cys) rs28934904
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.753C>T (p.Pro251=) rs63582063
NM_004992.3(MECP2):c.897C>T (p.Thr299=) rs61748423
NM_004992.3(MECP2):c.932C>T (p.Thr311Met) rs61751445
NM_005025.4(SERPINI1):c.40A>G (p.Ser14Gly) rs61735307
NM_005045.3(RELN):c.-3_-1dupGGC rs55656324
NM_005045.3(RELN):c.1799C>T (p.Ser600Phe) rs78008536
NM_005045.3(RELN):c.1888A>C (p.Ser630Arg) rs115734214
NM_005045.3(RELN):c.2989C>G (p.Leu997Val) rs362691
NM_005045.3(RELN):c.3411C>T (p.Gly1137=) rs137974322
NM_005045.3(RELN):c.3477C>A (p.Asn1159Lys) rs114684479
NM_005045.3(RELN):c.3651C>G (p.Ile1217Met) rs56342240
NM_005045.3(RELN):c.3839G>A (p.Gly1280Glu) rs55689103
NM_005045.3(RELN):c.4720G>A (p.Ala1574Thr) rs78480723
NM_005045.3(RELN):c.5156C>T (p.Ser1719Leu) rs115913736
NM_005045.3(RELN):c.5200C>G (p.Leu1734Val) rs362800
NM_005045.3(RELN):c.5284G>A (p.Val1762Ile) rs79499902
NM_005045.3(RELN):c.5618C>T (p.Thr1873Ile) rs41275239
NM_005045.3(RELN):c.5643G>A (p.Leu1881=) rs141387255
NM_005045.3(RELN):c.565C>T (p.His189Tyr) rs115806540
NM_005045.3(RELN):c.5775A>G (p.Arg1925=) rs2711866
NM_005045.3(RELN):c.578-3T>C rs607755
NM_005045.3(RELN):c.5880A>G (p.Thr1960=) rs362793
NM_005045.3(RELN):c.6078C>T (p.Asn2026=) rs79610081
NM_005045.3(RELN):c.6141C>T (p.Phe2047=) rs79161241
NM_005045.3(RELN):c.6343G>A (p.Gly2115Ser) rs116716038
NM_005045.3(RELN):c.6702T>C (p.Cys2234=) rs2075043
NM_005045.3(RELN):c.7438G>A (p.Gly2480Ser) rs150236371
NM_005045.3(RELN):c.7538C>G (p.Ser2513Cys) rs114647348
NM_005045.3(RELN):c.7887T>C (p.Pro2629=) rs56345626
NM_005045.3(RELN):c.8046T>C (p.His2682=) rs2229864
NM_005045.3(RELN):c.8154A>T (p.Thr2718=) rs1554367205
NM_005045.3(RELN):c.8508C>T (p.Phe2836=) rs2229862
NM_005045.3(RELN):c.8843+7G>C rs2711885
NM_005045.3(RELN):c.9524A>C (p.His3175Pro) rs74513461
NM_005045.3(RELN):c.9730G>A (p.Gly3244Ser) rs73714410
NM_005055.4(RAPSN):c.241T>C (p.Phe81Leu) rs57878668
NM_005055.4(RAPSN):c.474C>T (p.Asp158=) rs56245238
NM_005198.4(CHKB):c.216C>T (p.Tyr72=) rs80067609
NM_005249.4(FOXG1):c.1273T>C (p.Ser425Pro) rs780242359
NM_005249.4(FOXG1):c.1278G>A (p.Met426Ile) rs747138265
NM_005249.4(FOXG1):c.1323C>T (p.Ser441=) rs144434028
NM_005249.4(FOXG1):c.218A>C (p.Gln73Pro) rs760663911
NM_005249.4(FOXG1):c.245C>A (p.Pro82Gln) rs796052453
NM_005249.4(FOXG1):c.456G>T (p.Gly152=) rs587783637
NM_005271.4(GLUD1):c.1060-10T>A rs17096421
NM_005271.4(GLUD1):c.1403-5dupT rs550609501
NM_005271.4(GLUD1):c.1470G>A (p.Thr490=) rs141844887
NM_005271.4(GLUD1):c.942A>G (p.Leu314=) rs9421572
NM_005413.3(SIX3):c.109G>T (p.Gly37Cys) rs199823175
NM_005413.3(SIX3):c.525G>A (p.Gln175=) rs116680477
NM_005413.3(SIX3):c.576C>T (p.Arg192=) rs182881
NM_005413.3(SIX3):c.90G>T (p.Ala30=) rs78018362
NM_005422.2(TECTA):c.1812C>T (p.Ser604=) rs138914618
NM_005422.2(TECTA):c.3097C>T (p.Arg1033Trp) rs142486386
NM_005422.2(TECTA):c.972G>C (p.Val324=) rs147790742
NM_005445.3(SMC3):c.1671-6A>G rs200848781
NM_005445.3(SMC3):c.2268+4C>T rs587784426
NM_005445.3(SMC3):c.2329T>C (p.Leu777=) rs76625999
NM_005445.3(SMC3):c.3495T>A (p.Ala1165=) rs142395521
NM_005477.2(HCN4):c.1518C>T (p.Tyr506=) rs139590882
NM_005477.2(HCN4):c.2657C>T (p.Ala886Val) rs200575377
NM_005477.2(HCN4):c.2800C>T (p.Arg934Cys) rs199638465
NM_005506.3(SCARB2):c.382C>G (p.Pro128Ala) rs143558324
NM_005506.3(SCARB2):c.445G>A (p.Val149Met) rs147159813
NM_005529.6(HSPG2):c.10045C>G (p.Leu3349Val) rs75843082
NM_005529.6(HSPG2):c.10280G>A (p.Arg3427Gln) rs142939330
NM_005529.6(HSPG2):c.10512C>T (p.His3504=) rs55875654
NM_005529.6(HSPG2):c.1082C>A (p.Thr361Asn) rs75467696
NM_005529.6(HSPG2):c.10937G>A (p.Arg3646His) rs112062179
NM_005529.6(HSPG2):c.11294G>A (p.Ser3765Asn) rs114223739
NM_005529.6(HSPG2):c.12004C>G (p.Leu4002Val) rs140403186
NM_005529.6(HSPG2):c.12072C>T (p.Asp4024=) rs146167897
NM_005529.6(HSPG2):c.1238G>A (p.Arg413Gln) rs140621959
NM_005529.6(HSPG2):c.12786C>T (p.Leu4262=) rs141936971
NM_005529.6(HSPG2):c.12874G>A (p.Glu4292Lys) rs141280063
NM_005529.6(HSPG2):c.12982G>A (p.Ala4328Thr) rs114015043
NM_005529.6(HSPG2):c.13018G>A (p.Val4340Met) rs145687082
NM_005529.6(HSPG2):c.13033G>A (p.Gly4345Arg) rs148788926
NM_005529.6(HSPG2):c.149A>T (p.His50Leu) rs138518139
NM_005529.6(HSPG2):c.204C>A (p.Asp68Glu) rs1869780
NM_005529.6(HSPG2):c.2074G>A (p.Val692Met) rs143669458
NM_005529.6(HSPG2):c.2326G>A (p.Val776Met) rs145476116
NM_005529.6(HSPG2):c.2462C>T (p.Ala821Val) rs141901178
NM_005529.6(HSPG2):c.2847G>A (p.Glu949=) rs773662857
NM_005529.6(HSPG2):c.3269G>A (p.Arg1090Gln) rs78889849
NM_005529.6(HSPG2):c.3707C>A (p.Ala1236Glu) rs113652076
NM_005529.6(HSPG2):c.4132G>A (p.Glu1378Lys) rs62642525
NM_005529.6(HSPG2):c.4488G>A (p.Thr1496=) rs372318754
NM_005529.6(HSPG2):c.4627-3delT rs368983547
NM_005529.6(HSPG2):c.4647G>A (p.Thr1549=) rs148362276
NM_005529.6(HSPG2):c.4877G>A (p.Arg1626His) rs41311989
NM_005529.6(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309
NM_005529.6(HSPG2):c.5297C>T (p.Ala1766Val) rs139794766
NM_005529.6(HSPG2):c.5433C>T (p.Asn1811=) rs140134749
NM_005529.6(HSPG2):c.5756G>A (p.Arg1919His) rs62642521
NM_005529.6(HSPG2):c.6927C>T (p.Tyr2309=) rs552716935
NM_005529.6(HSPG2):c.7086C>T (p.Cys2362=) rs139001173
NM_005529.6(HSPG2):c.7191G>A (p.Ala2397=) rs2290499
NM_005529.6(HSPG2):c.8044C>T (p.Arg2682Trp) rs142458572
NM_005529.6(HSPG2):c.9732C>T (p.His3244=) rs74782938
NM_005572.3(LMNA):c.1338T>C (p.Asp446=) rs505058
NM_005572.3(LMNA):c.1698C>T (p.His566=) rs4641
NM_005572.3(LMNA):c.438C>T (p.Ala146=) rs80356805
NM_005572.3(LMNA):c.51C>T (p.Ser17=) rs11549668
NM_005572.3(LMNA):c.861T>C (p.Ala287=) rs538089
NM_005591.3(MRE11):c.1015A>T (p.Lys339Ter) rs984874083
NM_005591.3(MRE11):c.1475C>A (p.Ala492Asp) rs61749249
NM_005591.3(MRE11):c.1480G>A (p.Glu494Lys) rs104895016
NM_005591.3(MRE11):c.1727G>A (p.Arg576Gln) rs139461096
NM_005591.3(MRE11):c.1783+5G>C rs142082313
NM_005591.3(MRE11):c.2092A>G (p.Met698Val) rs1805362
NM_005591.3(MRE11):c.822T>C (p.Leu274=) rs137868143
NM_005591.3(MRE11):c.969A>G (p.Pro323=) rs13447633
NM_005592.3(MUSK):c.2286C>T (p.Asp762=) rs199832657
NM_005592.3(MUSK):c.398T>C (p.Ile133Thr) rs55980069
NM_005619.4(RTN2):c.1312C>T (p.Arg438Cys) rs148270789
NM_005629.3(SLC6A8):c.544G>A (p.Val182Met) rs149024147
NM_005629.3(SLC6A8):c.780C>T (p.Ile260=) rs148232368
NM_005633.3(SOS1):c.1705C>G (p.Leu569Val) rs200786705
NM_005633.3(SOS1):c.2760G>A (p.Arg920=) rs149092581
NM_005654.5(NR2F1):c.*9C>T rs202006298
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.393G>A (p.Glu131=) rs61758155
NM_005670.3(EPM2A):c.402G>A (p.Gly134=) rs35230590
NM_005670.3(EPM2A):c.722G>A (p.Arg241Gln) rs146321088
NM_005677.3(COLQ):c.1338C>A (p.Ile446=) rs73818504
NM_005682.6(ADGRG1):c.1017+8G>A rs186479054
NM_005682.6(ADGRG1):c.641C>T (p.Ser214Leu) rs114515505
NM_005682.6(ADGRG1):c.843C>G (p.Ser281Arg) rs1801257
NM_005682.6(ADGRG1):c.844G>C (p.Gly282Arg) rs146704802
NM_005682.6(ADGRG1):c.996T>C (p.Thr332=) rs1376041
NM_005710.2(PQBP1):c.180-3C>T rs741932
NM_005710.2(PQBP1):c.334_354del (p.Gly113_Arg119del) rs606231198
NM_005765.2(ATP6AP2):c.189C>T (p.Leu63=) rs150392503
NM_005881.3(BCKDK):c.845+10C>T rs74015068
NM_005910.5(MAPT):c.1165G>A (p.Gly389Arg) rs63750512
NM_005912.2(MC4R):c.181G>A (p.Glu61Lys) rs370479598
NM_005912.2(MC4R):c.380C>T (p.Ser127Leu) rs13447331
NM_005912.2(MC4R):c.466C>T (p.Gln156Ter) rs369841551
NM_005912.2(MC4R):c.594C>T (p.Ile198=) rs61741819
NM_005912.2(MC4R):c.751A>C (p.Ile251Leu) rs52820871
NM_006005.3(WFS1):c.2611G>A (p.Val871Met) rs71532874
NM_006009.3(TUBA1A):c.*1delA rs781483247
NM_006009.3(TUBA1A):c.226+10C>T rs199717430
NM_006030.3(CACNA2D2):c.1833G>A (p.Lys611=) rs41305892
NM_006030.3(CACNA2D2):c.3369C>T (p.Leu1123=) rs77176698
NM_006096.3(NDRG1):c.306C>T (p.Gly102=) rs2233322
NM_006096.3(NDRG1):c.31G>A (p.Ala11Thr) rs145871479
NM_006096.3(NDRG1):c.756-5C>T rs2227262
NM_006096.3(NDRG1):c.789G>A (p.Ser263=) rs61755062
NM_006096.3(NDRG1):c.892-5C>T rs2233346
NM_006158.4(NEFL):c.1458C>T (p.Ala486=) rs61726486
NM_006158.4(NEFL):c.338_339delAGinsCC (p.Gln113Pro) rs1554497641
NM_006158.4(NEFL):c.667C>T (p.Leu223=) rs60156239
NM_006158.4(NEFL):c.855C>T (p.Thr285=) rs1065083
NM_006261.4(PROP1):c.174G>A (p.Pro58=) rs2233784
NM_006261.4(PROP1):c.424G>A (p.Ala142Thr) rs1800197
NM_006279.3(ST3GAL3):c.636C>T (p.Gly212=) rs12140044
NM_006279.4(ST3GAL3):c.892-9G>A rs80055718
NM_006306.3(SMC1A):c.2824C>T (p.Leu942=) rs139654605
NM_006308.2(HSPB3):c.199G>A (p.Gly67Ser) rs35258119
NM_006308.2(HSPB3):c.347G>A (p.Arg116Gln) rs150931007
NM_006397.2(RNASEH2A):c.615T>A (p.Asp205Glu) rs62619782
NM_006420.2(ARFGEF2):c.1275C>T (p.His425=) rs117131028
NM_006420.2(ARFGEF2):c.807C>T (p.Asp269=) rs149172723
NM_006420.2(ARFGEF2):c.811C>G (p.Pro271Ala) rs143570842
NM_006493.2(CLN5):c.144C>T (p.Ser48=) rs587780896
NM_006493.2(CLN5):c.2T>C (p.Met1Thr) rs201615354
NM_006493.2(CLN5):c.61C>T (p.Pro21Ser) rs200353554
NM_006493.3(CLN5):c.76T>C (p.Trp26Arg) rs199727787
NM_006516.3(SLC2A1):c.1005C>G (p.Thr335=) rs763664146
NM_006516.3(SLC2A1):c.1023C>T (p.Leu341=) rs143588685
NM_006516.3(SLC2A1):c.1155C>T (p.Pro385=) rs76860965
NM_006516.3(SLC2A1):c.1170C>T (p.Ile390=) rs2236574
NM_006516.3(SLC2A1):c.1408G>C (p.Gly470Arg) rs572648977
NM_006516.3(SLC2A1):c.1437C>T (p.Pro479=) rs146879902
NM_006516.3(SLC2A1):c.777C>T (p.Ile259=) rs78388808
NM_006623.3(PHGDH):c.624T>C (p.Pro208=) rs77401816
NM_006640.4(SEPTIN9):c.1284G>A (p.Ala428=) rs768871202
NM_006640.4(SEPTIN9):c.147C>T (p.Gly49=) rs61744333
NM_006640.4(SEPTIN9):c.262C>T (p.Arg88Trp) rs80338761
NM_006702.4(PNPLA6):c.1340C>T (p.Pro447Leu) rs145191932
NM_006702.4(PNPLA6):c.3489G>A (p.Gln1163=) rs112133109
NM_006702.4(PNPLA6):c.3946C>T (p.Leu1316=) rs150392453
NM_006702.4(PNPLA6):c.3964G>A (p.Gly1322Ser) rs145178162
NM_006702.4(PNPLA6):c.56T>C (p.Val19Ala) rs188353745
NM_006731.2(FKTN):c.1297A>G (p.Thr433Ala) rs141918432
NM_006731.2(FKTN):c.166-4A>G rs193922689
NM_006731.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_006790.2(MYOT):c.116C>T (p.Ser39Phe) rs121908461
NM_006790.2(MYOT):c.1275A>G (p.Ala425=) rs140678912
NM_006790.2(MYOT):c.149A>G (p.Gln50Arg) rs34717730
NM_006790.2(MYOT):c.170C>T (p.Thr57Ile) rs28937597
NM_006790.2(MYOT):c.220C>A (p.Gln74Lys) rs6890689
NM_006790.2(MYOT):c.571G>C (p.Gly191Arg) rs199789331
NM_006790.2(MYOT):c.780G>A (p.Ser260=) rs116773838
NM_006790.2(MYOT):c.822T>C (p.Ser274=) rs138678049
NM_006796.2(AFG3L2):c.1026+8G>A rs8091858
NM_006796.2(AFG3L2):c.1664-9T>C rs200476229
NM_006796.2(AFG3L2):c.793G>A (p.Ala265Thr) rs149605021
NM_006859.3(LIAS):c.57A>C (p.Arg19Ser) rs140921822
NM_006920.4(SCN1A):c.1216G>T (p.Val406Phe) rs121918768
NM_006920.4(SCN1A):c.3690T>C (p.Tyr1230=) rs36031496
NM_006922.3(SCN3A):c.363T>C (p.Ala121=) rs145171998
NM_006946.3(SPTBN2):c.1011T>G (p.Leu337=) rs34275473
NM_006946.3(SPTBN2):c.1351-7G>T rs116078747
NM_006946.3(SPTBN2):c.157+5G>A rs150159444
NM_006946.3(SPTBN2):c.1719C>T (p.His573=) rs148207416
NM_006946.3(SPTBN2):c.234G>A (p.Val78=) rs78309877
NM_006946.3(SPTBN2):c.249C>T (p.Ser83=) rs141552965
NM_006946.3(SPTBN2):c.285C>T (p.Leu95=) rs34117933
NM_006946.3(SPTBN2):c.3101T>C (p.Val1034Ala) rs506028
NM_006946.3(SPTBN2):c.3431G>A (p.Arg1144Gln) rs558572111
NM_006946.3(SPTBN2):c.3671A>G (p.Asn1224Ser)
NM_006946.3(SPTBN2):c.3686A>G (p.His1229Arg) rs114788199
NM_006946.3(SPTBN2):c.3722A>G (p.Glu1241Gly) rs141683210
NM_006946.3(SPTBN2):c.4899G>A (p.Leu1633=) rs639938
NM_006946.3(SPTBN2):c.5340C>T (p.Asn1780=) rs623022
NM_006946.3(SPTBN2):c.5639G>A (p.Arg1880His) rs35532855
NM_006946.3(SPTBN2):c.585C>T (p.Asn195=) rs34775878
NM_006946.3(SPTBN2):c.7020G>A (p.Pro2340=) rs61741217
NM_006946.3(SPTBN2):c.885+5T>C rs114331192
NM_006946.3(SPTBN2):c.92C>T (p.Ser31Leu) rs147766428
NM_007075.3(WDR45):c.354C>T (p.Ile118=) rs140596058
NM_007078.2(LDB3):c.1014A>G (p.Thr338=) rs150209221
NM_007078.2(LDB3):c.690-4A>G rs45529531
NM_007078.2(LDB3):c.993G>A (p.Ala331=) rs140347820
NM_007126.4(VCP):c.1704A>G (p.Gln568=) rs142577424
NM_007126.4(VCP):c.572G>A (p.Arg191Gln) rs121909334
NM_007126.4(VCP):c.927C>T (p.Ile309=) rs34097935
NM_007171.3(POMT1):c.1191C>T (p.His397=) rs35242383
NM_007171.3(POMT1):c.1299C>A (p.Asp433Glu) rs11243406
NM_007171.3(POMT1):c.1341A>G (p.Glu447=) rs62620174
NM_007171.3(POMT1):c.1545C>T (p.Tyr515=) rs62636653
NM_007171.3(POMT1):c.1565G>A (p.Arg522Lys) rs117985576
NM_007171.3(POMT1):c.1764+10C>A rs184131819
NM_007171.3(POMT1):c.1892-6C>A rs140258585
NM_007171.3(POMT1):c.1922C>T (p.Ala641Val) rs12115566
NM_007171.3(POMT1):c.1998C>T (p.Tyr666=) rs146512619
NM_007171.3(POMT1):c.2005G>A (p.Ala669Thr) rs119462987
NM_007171.3(POMT1):c.2126C>T (p.Ala709Val) rs138171526
NM_007171.3(POMT1):c.2181G>A (p.Ser727=) rs76092524
NM_007171.3(POMT1):c.2244G>A (p.Ter748=) rs147143094
NM_007171.3(POMT1):c.751C>T (p.Arg251Trp) rs3887873
NM_007171.3(POMT1):c.957G>A (p.Leu319=) rs76109289
NM_007171.3(POMT1):c.979G>A (p.Val327Ile) rs4740164
NM_007254.3(PNKP):c.1127-8C>T rs3739203
NM_007254.3(PNKP):c.416G>A (p.Arg139His) rs34472250
NM_007254.3(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007262.4(PARK7):c.234C>T (p.Gly78=) rs11548937
NM_007327.3(GRIN1):c.1467+8G>A rs10747050
NM_007327.3(GRIN1):c.1584G>A (p.Glu528=) rs116006955
NM_007327.3(GRIN1):c.2241G>C (p.Val747=) rs116354349
NM_007327.3(GRIN1):c.2244G>C (p.Thr748=) rs79570612
NM_007327.3(GRIN1):c.789A>G (p.Pro263=) rs6293
NM_007375.3(TARDBP):c.1098C>G (p.Ala366=) rs148325203
NM_007375.3(TARDBP):c.1150G>C (p.Gly384Arg) rs797044594
NM_007375.3(TARDBP):c.198T>C (p.Ala66=) rs61730366
NM_012188.4(FOXI1):c.972G>C (p.Pro324=) rs56128152
NM_012210.3(TRIM32):c.693A>C (p.Ala231=) rs368455215
NM_012233.2(RAB3GAP1):c.1006C>T (p.Arg336Cys) rs150478342
NM_012233.2(RAB3GAP1):c.1793A>G (p.Asn598Ser) rs10445686
NM_012233.2(RAB3GAP1):c.2265T>C (p.Phe755=) rs17261772
NM_012233.2(RAB3GAP1):c.2676G>T (p.Arg892Ser) rs144455066
NM_012233.2(RAB3GAP1):c.357A>G (p.Val119=) rs73959261
NM_012233.2(RAB3GAP1):c.411C>T (p.Asp137=) rs140929274
NM_012301.3(MAGI2):c.1014G>A (p.Lys338=) rs3735442
NM_012301.3(MAGI2):c.2329T>C (p.Leu777=) rs76346657
NM_012301.3(MAGI2):c.2379C>T (p.Leu793=) rs73703715
NM_012301.3(MAGI2):c.276C>G (p.Pro92=) rs146012909
NM_012301.3(MAGI2):c.2784T>C (p.Asn928=) rs1009524
NM_012301.3(MAGI2):c.3213G>A (p.Ser1071=) rs7812015
NM_012301.3(MAGI2):c.3357A>G (p.Leu1119=) rs2074641
NM_012309.4(SHANK2):c.1197G>A (p.Ala399=) rs11237599
NM_012463.3(ATP6V0A2):c.1590C>T (p.Pro530=) rs80355657
NM_012463.3(ATP6V0A2):c.2238C>T (p.Cys746=) rs138886791
NM_012463.3(ATP6V0A2):c.2384C>T (p.Ala795Val) rs139509075
NM_013296.4(GPSM2):c.1572_1574delTTC (p.Ser525del) rs35029887
NM_013296.4(GPSM2):c.278+5T>C rs9727773
NM_013296.4(GPSM2):c.753A>G (p.Ala251=) rs12069435
NM_013382.5(POMT2):c.1045C>T (p.Arg349Trp) rs141339355
NM_013382.5(POMT2):c.1262G>A (p.Arg421Gln) rs151078549
NM_013382.5(POMT2):c.161C>A (p.Ala54Glu) rs8177536
NM_013382.5(POMT2):c.162G>T (p.Ala54=) rs2270420
NM_013382.5(POMT2):c.1654-6A>G rs4540995
NM_013382.5(POMT2):c.1654-8T>G rs780532724
NM_013382.5(POMT2):c.1683T>C (p.Asn561=) rs146307965
NM_013382.5(POMT2):c.1701C>G (p.Pro567=) rs151051452
NM_013382.5(POMT2):c.1881G>A (p.Ala627=) rs146588608
NM_013382.5(POMT2):c.652G>A (p.Asp218Asn) rs140785104
NM_013444.3(UBQLN2):c.1420C>G (p.Pro474Ala) rs761503297
NM_014043.3(CHMP2B):c.218C>T (p.Thr73Met) rs192188850
NM_014043.3(CHMP2B):c.34+8C>T rs35413339
NM_014043.3(CHMP2B):c.560G>A (p.Ser187Asn) rs78268395
NM_014141.5(CNTNAP2):c.1137C>T (p.Asn379=) rs78543192
NM_014141.5(CNTNAP2):c.1247C>T (p.Ala416Val) rs34456867
NM_014141.5(CNTNAP2):c.1308C>T (p.Asn436=) rs79039458
NM_014141.5(CNTNAP2):c.1311C>T (p.Ile437=) rs56356283
NM_014141.5(CNTNAP2):c.1659G>A (p.Ala553=) rs34592169
NM_014141.5(CNTNAP2):c.1710G>A (p.Ser570=) rs2286128
NM_014141.5(CNTNAP2):c.1777+10A>G rs2286127
NM_014141.5(CNTNAP2):c.2256-6A>T rs10240482
NM_014141.5(CNTNAP2):c.2280A>G (p.Ser760=) rs10240503
NM_014141.5(CNTNAP2):c.2606T>C (p.Ile869Thr) rs121908445
NM_014141.5(CNTNAP2):c.2609T>C (p.Val870Ala) rs138481453
NM_014141.5(CNTNAP2):c.2892G>A (p.Ser964=) rs148104020
NM_014141.5(CNTNAP2):c.3105C>T (p.Asn1035=) rs112483670
NM_014141.5(CNTNAP2):c.3248-4A>G rs3779031
NM_014141.5(CNTNAP2):c.3585G>A (p.Arg1195=) rs77789547
NM_014141.5(CNTNAP2):c.3716-10_3716-7dupTTCT rs142426153
NM_014141.5(CNTNAP2):c.3723G>A (p.Ala1241=) rs9648691
NM_014141.5(CNTNAP2):c.755-5C>T rs369675346
NM_014141.5(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383
NM_014159.6(SETD2):c.2302G>C (p.Val768Leu) rs9311404
NM_014191.3(SCN8A):c.*3_*5delGAG rs555793953
NM_014191.3(SCN8A):c.2098A>T (p.Ile700Leu) rs187153231
NM_014191.3(SCN8A):c.3822C>T (p.Val1274=) rs187327463
NM_014191.3(SCN8A):c.4122T>A (p.Thr1374=) rs115623439
NM_014191.3(SCN8A):c.4351G>A (p.Gly1451Ser) rs863223345
NM_014191.3(SCN8A):c.4509T>C (p.Pro1503=) rs303815
NM_014191.3(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_014191.3(SCN8A):c.5601G>A (p.Gln1867=) rs368449473
NM_014191.3(SCN8A):c.576C>T (p.Asp192=) rs4761829
NM_014191.3(SCN8A):c.928+9C>T rs148027656
NM_014363.4(SACS):c.9508C>T (p.Arg3170Ter) rs202199411
NM_014363.5(SACS):c.10274A>G (p.Lys3425Arg) rs147317123
NM_014363.5(SACS):c.10611A>G (p.Ala3537=) rs137856939
NM_014363.5(SACS):c.10896A>G (p.Ile3632Met) rs35256065
NM_014363.5(SACS):c.10982C>T (p.Ala3661Val) rs36061856
NM_014363.5(SACS):c.11688G>A (p.Arg3896=) rs116791509
NM_014363.5(SACS):c.12216T>A (p.Thr4072=) rs574182225
NM_014363.5(SACS):c.12597A>G (p.Pro4199=) rs112630127
NM_014363.5(SACS):c.12649A>G (p.Asn4217Asp) rs35799469
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.1917A>G (p.Ala639=) rs138457742
NM_014363.5(SACS):c.2146C>T (p.His716Tyr) rs146852400
NM_014363.5(SACS):c.2983G>T (p.Val995Phe) rs142967124
NM_014363.5(SACS):c.3129A>G (p.Ser1043=) rs148878361
NM_014363.5(SACS):c.3144A>G (p.Val1048=) rs3751369
NM_014363.5(SACS):c.4117_4118delGCinsCT (p.Ala1373Leu) rs797045938
NM_014363.5(SACS):c.4302A>G (p.Leu1434=) rs34559250
NM_014363.5(SACS):c.6781C>A (p.Leu2261Ile) rs146722795
NM_014363.5(SACS):c.7384C>T (p.Pro2462Ser) rs78239814
NM_014363.5(SACS):c.7527T>C (p.Tyr2509=) rs140034972
NM_014363.5(SACS):c.7528G>A (p.Ala2510Thr) rs111920492
NM_014363.5(SACS):c.8339T>G (p.Phe2780Cys) rs111540787
NM_014363.5(SACS):c.8344_8345delGCinsAT (p.Ala2782Ile) rs386768924
NM_014363.5(SACS):c.8393C>A (p.Pro2798Gln) rs140551762
NM_014365.2(HSPB8):c.402T>C (p.Ile134=) rs56323028
NM_014365.2(HSPB8):c.552C>T (p.Asn184=) rs112052602
NM_014365.2(HSPB8):c.582C>T (p.Thr194=) rs4628742
NM_014467.2(SRPX2):c.1030C>A (p.Leu344Ile) rs149051060
NM_014467.2(SRPX2):c.840G>A (p.Ala280=) rs139377205
NM_014625.3(NPHS2):c.1038A>G (p.Leu346=) rs3818587
NM_014625.3(NPHS2):c.288C>T (p.Ser96=) rs3738423
NM_014625.3(NPHS2):c.413G>A (p.Arg138Gln) rs74315342
NM_014625.3(NPHS2):c.503G>A (p.Arg168His) rs530318579
NM_014625.3(NPHS2):c.538G>A (p.Val180Met) rs74315347
NM_014625.3(NPHS2):c.59C>T (p.Pro20Leu) rs74315344
NM_014625.3(NPHS2):c.643C>T (p.Gln215Ter) rs778055996
NM_014625.3(NPHS2):c.686G>A (p.Arg229Gln) rs61747728
NM_014625.3(NPHS2):c.779T>A (p.Val260Glu) rs775006954
NM_014625.3(NPHS2):c.790G>C (p.Glu264Gln) rs369697947
NM_014625.3(NPHS2):c.851C>T (p.Ala284Val)
NM_014625.3(NPHS2):c.87C>G (p.Ala29=) rs12123397
NM_014625.3(NPHS2):c.948del (p.Ala317Leufs) rs775170915
NM_014795.3(ZEB2):c.1161A>G (p.Leu387=) rs146673563
NM_014795.3(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836
NM_014795.3(ZEB2):c.2855G>C (p.Arg952Thr) rs151256895
NM_014795.3(ZEB2):c.489C>T (p.Ile163=) rs138859323
NM_014845.5(FIG4):c.1090A>T (p.Met364Leu) rs2295837
NM_014845.5(FIG4):c.122T>C (p.Ile41Thr) rs121908287
NM_014845.5(FIG4):c.1584-8T>A rs199522051
NM_014845.5(FIG4):c.2097-10C>G rs142482745
NM_014845.5(FIG4):c.2459+7T>G rs575271308
NM_014845.5(FIG4):c.27C>T (p.Ile9=) rs141040807
NM_014845.5(FIG4):c.627A>G (p.Leu209=) rs140111406
NM_014845.5(FIG4):c.66+10C>T rs200063827
NM_014845.5(FIG4):c.67-7T>C rs56378532
NM_014846.3(WASHC5):c.1151-8G>A rs16900335
NM_014846.3(WASHC5):c.1245A>G (p.Leu415=) rs10429323
NM_014846.3(WASHC5):c.1408+7A>G rs16900312
NM_014846.3(WASHC5):c.3291G>A (p.Ala1097=) rs11542889
NM_014846.3(WASHC5):c.3319G>A (p.Val1107Met) rs138407503
NM_014846.3(WASHC5):c.597A>G (p.Pro199=) rs7812319
NM_014855.2(AP5Z1):c.1557A>G (p.Gln519=) rs201687417
NM_014855.2(AP5Z1):c.1563G>A (p.Leu521=) rs182411153
NM_014855.2(AP5Z1):c.1794C>T (p.Ala598=) rs374673921
NM_014855.2(AP5Z1):c.366+5C>T rs143800095
NM_014855.3(AP5Z1):c.379G>A (p.Glu127Lys) rs115454162
NM_014855.3(AP5Z1):c.481G>A (p.Val161Met) rs191971593
NM_014855.3(AP5Z1):c.881G>A (p.Arg294Gln) rs200957609
NM_014874.3(MFN2):c.1179G>A (p.Met393Ile) rs12069578
NM_014874.3(MFN2):c.1403G>A (p.Arg468His) rs138382758
NM_014874.3(MFN2):c.1452G>A (p.Thr484=) rs150043585
NM_014874.3(MFN2):c.1920C>G (p.Leu640=) rs141468012
NM_014874.3(MFN2):c.2113G>A (p.Val705Ile) rs142271930
NM_014874.3(MFN2):c.311G>T (p.Arg104Leu) rs863224068
NM_014874.3(MFN2):c.707C>T (p.Thr236Met) rs773159585
NM_014874.3(MFN2):c.749G>A (p.Arg250Gln) rs140234726
NM_014874.3(MFN2):c.842G>C (p.Cys281Ser) rs147136530
NM_014946.3(SPAST):c.1196C>T (p.Ser399Leu) rs1553317025
NM_014946.3(SPAST):c.1209_1212delCTTT (p.Phe403Leufs) rs1553317029
NM_014946.3(SPAST):c.1276C>T (p.Leu426Phe) rs1060502227
NM_014946.3(SPAST):c.131C>T (p.Ser44Leu) rs121908515
NM_014946.3(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014946.3(SPAST):c.1676G>A (p.Gly559Asp) rs864622179
NM_014946.3(SPAST):c.1785C>A (p.Ser595Arg) rs145206063
NM_014946.3(SPAST):c.484G>A (p.Val162Ile) rs141944844
NM_015046.5(SETX):c.1077T>C (p.Tyr359=) rs9411449
NM_015046.5(SETX):c.2975A>G (p.Lys992Arg) rs61742937
NM_015046.5(SETX):c.3147C>T (p.His1049=) rs3739921
NM_015046.5(SETX):c.3229G>A (p.Asp1077Asn) rs145097270
NM_015046.5(SETX):c.3310C>G (p.Gln1104Glu) rs113831637
NM_015046.5(SETX):c.3455T>G (p.Phe1152Cys) rs3739922
NM_015046.5(SETX):c.3576T>G (p.Asp1192Glu) rs1185193
NM_015046.5(SETX):c.3754G>A (p.Gly1252Arg) rs1183768
NM_015046.5(SETX):c.3968G>A (p.Arg1323Gln) rs369542231
NM_015046.5(SETX):c.4156A>G (p.Ile1386Val) rs543573
NM_015046.5(SETX):c.472T>G (p.Leu158Val) rs145438764
NM_015046.5(SETX):c.4755T>G (p.Pro1585=) rs151237267
NM_015046.5(SETX):c.5283A>G (p.Gln1761=) rs139063885
NM_015046.5(SETX):c.5563A>G (p.Thr1855Ala) rs2296871
NM_015046.5(SETX):c.5591_5592delAA (p.Gln1864Argfs) rs776470487
NM_015046.5(SETX):c.5811T>C (p.Asp1937=) rs2296869
NM_015046.5(SETX):c.59G>A (p.Arg20His) rs79740039
NM_015046.5(SETX):c.6507G>A (p.Gly2169=) rs34073320
NM_015046.5(SETX):c.6935+8T>C rs17148873
NM_015046.5(SETX):c.7121_7122delTG (p.Val2374Glyfs) rs765371601
NM_015046.5(SETX):c.7759A>G (p.Ile2587Val) rs1056899
NM_015046.6(SETX):c.5222dup (p.Asp1742Argfs) rs730882209
NM_015046.6(SETX):c.7100+9T>C rs200088320
NM_015046.6(SETX):c.7490G>A (p.Ser2497Asn) rs61735488
NM_015087.4(SPART):c.1155T>G (p.Arg385=) rs140222511
NM_015087.4(SPART):c.361G>T (p.Asp121Tyr) rs146398746
NM_015120.4(ALMS1):c.10275G>C (p.Lys3425Asn) rs34398445
NM_015120.4(ALMS1):c.10306A>G (p.Lys3436Glu) rs34071195
NM_015120.4(ALMS1):c.10631C>G (p.Thr3544Ser) rs45501594
NM_015120.4(ALMS1):c.8448A>G (p.Ser2816=) rs137932254
NM_015185.2(ARHGEF9):c.561C>T (p.His187=) rs150129110
NM_015192.3(PLCB1):c.1251-4T>G rs2076689
NM_015192.3(PLCB1):c.2191C>G (p.Pro731Ala) rs61755434
NM_015192.3(PLCB1):c.2413+9C>T rs138442805
NM_015192.3(PLCB1):c.2565G>A (p.Ala855=) rs2076413
NM_015192.3(PLCB1):c.2967G>A (p.Thr989=) rs45464693
NM_015192.3(PLCB1):c.3120A>G (p.Gln1040=) rs61755436
NM_015192.3(PLCB1):c.3202T>C (p.Leu1068=) rs41275588
NM_015192.3(PLCB1):c.3584A>G (p.His1195Arg) rs186429469
NM_015192.3(PLCB1):c.458A>T (p.Glu153Val) rs45496299
NM_015192.3(PLCB1):c.99+8T>C rs6086350
NM_015284.3(SZT2):c.2631C>T (p.Thr877=) rs140831372
NM_015284.3(SZT2):c.4530G>A (p.Leu1510=)
NM_015284.3(SZT2):c.4727C>T (p.Ser1576Leu)
NM_015284.3(SZT2):c.5346C>T (p.Arg1782=) rs147753139
NM_015284.3(SZT2):c.6402C>T (p.Asp2134=)
NM_015284.3(SZT2):c.759G>A (p.Ser253=) rs1889586
NM_015295.2(SMCHD1):c.2913+6C>G rs186678728
NM_015295.2(SMCHD1):c.3209T>C (p.Ile1070Thr) rs113434340
NM_015295.2(SMCHD1):c.4108C>T (p.Arg1370Cys) rs942559171
NM_015295.2(SMCHD1):c.424+10C>T rs201631086
NM_015346.3(ZFYVE26):c.1184G>T (p.Gly395Val) rs35512910
NM_015346.3(ZFYVE26):c.1224G>T (p.Gly408=) rs17104689
NM_015346.3(ZFYVE26):c.1844C>T (p.Ser615Phe) rs117228915
NM_015346.3(ZFYVE26):c.2067C>T (p.Leu689=) rs141880939
NM_015346.3(ZFYVE26):c.2332+7delT rs145183291
NM_015346.3(ZFYVE26):c.2559G>A (p.Leu853=) rs7143196
NM_015346.3(ZFYVE26):c.2692A>T (p.Thr898Ser) rs17192170
NM_015346.3(ZFYVE26):c.2852C>T (p.Thr951Met) rs35471427
NM_015346.3(ZFYVE26):c.2887G>C (p.Val963Leu) rs116890187
NM_015346.3(ZFYVE26):c.3118T>A (p.Ser1040Thr) rs112787369
NM_015346.3(ZFYVE26):c.3210C>G (p.Pro1070=) rs7156492
NM_015346.3(ZFYVE26):c.3308C>T (p.Pro1103Leu) rs3742885
NM_015346.3(ZFYVE26):c.3365C>T (p.Ala1122Val) rs3742884
NM_015346.3(ZFYVE26):c.3722G>A (p.Arg1241Gln) rs140756827
NM_015346.3(ZFYVE26):c.3757C>T (p.Leu1253=) rs34296097
NM_015346.3(ZFYVE26):c.4066T>G (p.Cys1356Gly) rs149276487
NM_015346.3(ZFYVE26):c.4197C>T (p.Thr1399=) rs35018134
NM_015346.3(ZFYVE26):c.4370G>A (p.Cys1457Tyr) rs2235967
NM_015346.3(ZFYVE26):c.5121A>C (p.Gly1707=) rs143981992
NM_015346.3(ZFYVE26):c.5672A>G (p.Asn1891Ser) rs3742883
NM_015346.3(ZFYVE26):c.5784T>C (p.Tyr1928=) rs34852231
NM_015346.3(ZFYVE26):c.6405G>A (p.Leu2135=) rs76327447
NM_015346.3(ZFYVE26):c.677G>A (p.Arg226His) rs147919567
NM_015346.3(ZFYVE26):c.6819G>A (p.Arg2273=) rs144007962
NM_015346.3(ZFYVE26):c.6921C>T (p.Ser2307=) rs35917338
NM_015346.3(ZFYVE26):c.6987-3C>T rs76728509
NM_015346.3(ZFYVE26):c.7232G>A (p.Arg2411His) rs34373049
NM_015404.3(WHRN):c.764G>A (p.Gly255Asp) rs79509430
NM_015474.3(SAMHD1):c.77C>T (p.Pro26Leu) rs147240777
NM_015488.4(PNKD):c.652C>A (p.Arg218=) rs34745867
NM_015559.3(SETBP1):c.1932C>T (p.Ser644=) rs3744824
NM_015559.3(SETBP1):c.4234C>A (p.Arg1412=) rs145996171
NM_015560.2(OPA1):c.1177A>C (p.Arg393=) rs149752576
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.2427T>C (p.Leu809=) rs145999595
NM_015560.2(OPA1):c.2796C>T (p.Arg932=) rs35540805
NM_015560.2(OPA1):c.321G>A (p.Ser107=) rs117888848
NM_015560.2(OPA1):c.43C>A (p.Gln15Lys) rs75414918
NM_015560.2(OPA1):c.575C>T (p.Ala192Val) rs34307082
NM_015634.3(KIF1BP):c.1389A>C (p.Pro463=) rs114205227
NM_015636.3(EIF2B4):c.1389A>G (p.Gln463=) rs148810263
NM_015636.3(EIF2B4):c.913C>G (p.Arg305Gly) rs78599355
NM_015915.4(ATL1):c.1173C>T (p.His391=) rs149340140
NM_015915.4(ATL1):c.467C>T (p.Thr156Ile) rs137852657
NM_015915.4(ATL1):c.669C>T (p.Tyr223=) rs146975855
NM_015915.4(ATL1):c.693T>C (p.Gly231=) rs139720661
NM_015915.4(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_015915.4(ATL1):c.84A>G (p.Pro28=) rs35014209
NM_015915.4(ATL1):c.990+4T>A rs372029461
NM_016156.5(MTMR2):c.1233G>A (p.Thr411=) rs113897932
NM_016156.5(MTMR2):c.1504G>C (p.Glu502Gln) rs61735578
NM_016156.5(MTMR2):c.1756C>A (p.Arg586=) rs61735577
NM_016156.5(MTMR2):c.1855T>C (p.Ser619Pro) rs116750638
NM_016341.3(PLCE1):c.1405T>A (p.Ser469Thr) rs17508082
NM_016341.3(PLCE1):c.2124G>A (p.Val708=) rs61751496
NM_016341.3(PLCE1):c.2352C>T (p.Asp784=) rs201793869
NM_016341.3(PLCE1):c.3183C>T (p.Pro1061=) rs367640320
NM_016341.3(PLCE1):c.4263G>A (p.Ser1421=) rs41291134
NM_016341.3(PLCE1):c.513G>A (p.Val171=) rs61749239
NM_016373.3(WWOX):c.1197G>A (p.Ala399=) rs376935572
NM_016373.3(WWOX):c.358C>T (p.Arg120Trp) rs141361080
NM_016373.3(WWOX):c.613C>A (p.His205Asn) rs74860463
NM_016373.3(WWOX):c.754C>G (p.Pro252Ala) rs75559202
NM_016373.3(WWOX):c.807C>T (p.Asn269=) rs62034095
NM_016373.3(WWOX):c.816G>T (p.Leu272Phe) rs186745328
NM_016373.3(WWOX):c.835C>T (p.Arg279Cys) rs77314072
NM_016373.3(WWOX):c.885G>A (p.Arg295=) rs79771882
NM_016630.6(SPG21):c.846G>A (p.Ala282=) rs146986015
NM_017433.4(MYO3A):c.3028G>A (p.Glu1010Lys) rs61729833
NM_017433.4(MYO3A):c.3408C>T (p.Phe1136=) rs61731629
NM_017739.3(POMGNT1):c.1257G>A (p.Leu419=) rs41292143
NM_017739.3(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254
NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869
NM_017739.3(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973
NM_017739.3(POMGNT1):c.681A>G (p.Lys227=) rs2292487
NM_017780.3(CHD7):c.307T>A (p.Ser103Thr) rs41272435
NM_017780.3(CHD7):c.6135G>A (p.Pro2045=) rs6999971
NM_017780.3(CHD7):c.6282A>G (p.Gly2094=) rs41312172
NM_017780.3(CHD7):c.7356A>G (p.Thr2452=) rs2272727
NM_017882.2(CLN6):c.214G>C (p.Glu72Gln) rs104894483
NM_017882.2(CLN6):c.53C>T (p.Ala18Val) rs547125345
NM_017882.2(CLN6):c.822G>A (p.Ala274=) rs151186473
NM_017882.2(CLN6):c.840G>A (p.Leu280=) rs148949069
NM_017890.4(VPS13B):c.10294G>A (p.Gly3432Arg) rs6468694
NM_017890.4(VPS13B):c.11146G>A (p.Ala3716Thr) rs142476821
NM_017890.4(VPS13B):c.11688C>T (p.Phe3896=) rs139436386
NM_017890.4(VPS13B):c.1248G>T (p.Gln416His) rs143024324