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 per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
6544 4644 13 3287 1520 19 174 4456

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 other
pathogenic 2 115 30 3 2 0 0 2 0 2 0
likely pathogenic 86 1 40 2 0 0 0 0 0 0 0
uncertain significance 25 53 0 375 72 0 0 1 0 1 0
likely benign 6 5 502 0 358 0 0 0 0 2 0
benign 5 11 603 2728 10 1 2 1 3 5 1

Submitter to submitter summary #

Total submitters: 106
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
GeneDx 0 3287 0 1048 301 0 35 1382
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 2240 0 526 553 1 19 1096
Genetic Services Laboratory, University of Chicago 0 633 0 834 142 0 2 977
CeGaT Praxis fuer Humangenetik Tuebingen 0 432 0 285 338 0 29 650
Invitae 0 1837 0 402 187 0 35 623
Ambry Genetics 0 918 0 389 74 0 1 464
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 1339 0 260 111 0 2 373
PreventionGenetics, PreventionGenetics 0 1494 0 336 15 0 2 353
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 777 0 173 75 0 3 251
Illumina Clinical Services Laboratory,Illumina 0 377 0 140 90 0 8 237
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 187 0 197 35 0 2 234
Integrated Genetics/Laboratory Corporation of America 0 433 0 173 14 0 6 193
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 175 7 59 22 0 0 88
Mayo Clinic Laboratories, Mayo Clinic 0 131 0 34 16 0 3 52
Department of Pathology and Laboratory Medicine,Sinai Health System 0 50 0 14 25 0 3 41
OMIM 0 56 0 4 5 15 8 31
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 15 0 8 14 0 2 24
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 55 0 10 11 0 0 21
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 23 0 16 2 0 1 19
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 16 0 3 4 0 6 13
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 73 0 8 0 0 5 13
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 26 0 9 0 0 1 10
Gharavi Laboratory,Columbia University 0 26 0 6 0 0 3 9
Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino 0 3 0 0 6 0 3 9
GeneReviews 0 9 4 1 3 0 0 8
Blueprint Genetics 0 16 0 6 0 0 2 8
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 3 0 6 2 0 0 8
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 5 0 3 0 0 4 7
Counsyl 0 11 0 6 0 0 0 6
Mendelics 0 7 0 6 0 0 0 6
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 1 2 0 3 0 1 6
NIHR Bioresource Rare Diseases, University of Cambridge 0 4 0 3 1 0 3 6
CSER _CC_NCGL, University of Washington 0 0 0 1 2 0 2 5
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 0 1 0 5 5
Inherited Neuropathy Consortium 0 3 0 0 4 0 1 5
Center for Genetic Medicine Research,Children's National Medical Center 0 0 0 0 3 0 0 3
Institute of Human Genetics, University of Leipzig Medical Center 0 7 0 3 0 0 0 3
SIB Swiss Institute of Bioinformatics 0 8 0 3 0 0 0 3
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 1 0 2 0 0 1 3
Broad Institute Rare Disease Group, Broad Institute 0 6 0 3 0 0 0 3
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 9 0 0 2 0 0 2
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 10 0 0 2 0 0 2
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 2 0 0 2 0 0 2
King Laboratory,University of Washington 0 0 0 0 2 0 0 2
Elsea Laboratory,Baylor College of Medicine 0 1 0 0 0 0 2 2
Fulgent Genetics,Fulgent Genetics 0 12 0 1 1 0 0 2
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center 0 0 0 0 1 0 1 2
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 0 0 0 2 2
PharmGKB 0 0 0 0 0 2 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 5 0 0 2 0 0 2
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 2 0 0 1 0 2 2
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 1 1 0 2 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 1 0 0 1 2
Department of Neurology, Guangzhou First People’s Hospital,School of Medicine, South China University of Technology 0 0 0 1 0 0 1 2
New York Genome Center 0 12 0 0 2 0 0 2
Molecular Genetics of Inherited Kidney Disorders Laboratory,Garvan Institute of Medical Research 0 6 0 2 0 0 0 2
Baylor Genetics 0 6 0 0 0 0 1 1
Claritas Genomics 0 4 0 1 0 0 0 1
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 17 0 1 0 0 0 1
UniProtKB/Swiss-Prot 0 9 0 1 0 0 0 1
Department of Psychiatry,Nagoya University 0 0 0 0 0 0 1 1
Center for Medical Genetics Ghent,University of Ghent 0 0 0 0 0 0 1 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 0 1 0 0 0 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 0 0 1 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
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 0 0 0 1 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 3 0 0 1 0 1 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 6 0 1 0 0 0 1
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 0 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes 0 1 0 0 0 0 1 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 0 0 0 1 1
Forensic Genetics Laboratory,Harris County Institute of Forensic Sciences 0 0 0 0 0 0 1 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 1 0 0 0 1
Genetic Testing Lab, Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences 0 0 0 0 0 1 0 1
Pediatric Highly Intensive Care Unit,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 0 0 0 1 1
Daryl Scott Lab,Baylor College of Medicine 0 0 0 0 0 0 1 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 0 0 0 0 0 1 1
Undiagnosed Diseases Network,NIH 0 2 0 0 1 0 1 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 0 0 0 1 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 0 0 1 1 0 1 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 0 0 0 0 1 1
Flegel Lab,National Institutes of Health 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
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 0 0 0 0 1 0 0 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 0 0 1 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 0 1 1 0 0 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 0 0 1 0 0 1
ClinGen Hearing Loss Variant Curation Expert Panel 0 0 0 1 0 0 0 1
Michaelson Lab,University of Iowa 0 0 0 0 1 0 0 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 0 0 0 0 0 0 1 1
Department of Rehabilitation Medicine, Incheon St. Mary’s Hospital,College of Medicine, The Catholic University of Korea 0 1 0 1 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 0 0 0 0 0 1 1
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego 0 1 0 1 0 0 0 1
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University 0 10 0 1 0 0 0 1
Central Laboratory,The First Hospital of Lanzhou University 0 0 0 0 0 0 1 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 0 0 0 0 0 1 1
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 0 0 0 0 0 0 1 1
Sydney Genome Diagnostics,Children's Hospital Westmead 0 0 0 1 0 0 0 1
Paris Brain Institute,Inserm - ICM 0 2 0 0 1 0 0 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research,University of Tasmania 0 0 0 1 0 0 0 1
CMT Laboratory,Bogazici University 0 1 0 1 0 0 0 1
Wilkie Group, Clinical Genetics Lab, WIMM,University of Oxford 0 0 0 0 0 0 1 1
Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli 0 5 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 4456
Download table as spreadsheet
HGVS dbSNP
NC_012920.1(MT-CO1):m.6260G>A rs201395766
NC_012920.1(MT-CO1):m.6261G>A rs201262114
NC_012920.1(MT-ND1):m.3849G>A rs878853081
NC_012920.1:m.5951A>G rs7340122
NC_012920.1:m.6071T>C rs7340086
NM_000021.4(PSEN1):c.791C>T (p.Pro264Leu) rs63750301
NM_000023.4(SGCA):c.366G>A (p.Leu122=) rs147739328
NM_000023.4(SGCA):c.37+23G>A rs79410682
NM_000023.4(SGCA):c.528C>T (p.Thr176=) rs1801190
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg) rs201131924
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936
NM_000026.4(ADSL):c.124C>T (p.Leu42=) rs2228415
NM_000026.4(ADSL):c.357+6C>T rs181628906
NM_000026.4(ADSL):c.358-4G>A rs113199851
NM_000026.4(ADSL):c.403-4G>A rs373652667
NM_000026.4(ADSL):c.440A>T (p.Lys147Met) rs11089991
NM_000026.4(ADSL):c.649C>G (p.His217Asp) rs199761158
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His) rs886044777
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.4(ABCD1):c.1455A>C (p.Ser485=) rs150878397
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu) rs1557054776
NM_000033.4(ABCD1):c.498_520del (p.Val167fs) rs398123112
NM_000051.3(ATM):c.1009C>T (p.Arg337Cys) rs138398778
NM_000051.3(ATM):c.1073A>G (p.Asn358Ser) rs149636614
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1272T>C (p.Pro424=) rs35578748
NM_000051.3(ATM):c.1380G>C (p.Thr460=) rs145333518
NM_000051.3(ATM):c.162T>C (p.Tyr54=) rs3218690
NM_000051.3(ATM):c.1744T>C (p.Phe582Leu) rs2235006
NM_000051.3(ATM):c.1773T>C (p.Asn591=) rs61734356
NM_000051.3(ATM):c.1986T>C (p.Phe662=) rs1800055
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.2522A>C (p.Asp841Ala) rs587781812
NM_000051.3(ATM):c.2608A>G (p.Asn870Asp) rs61734354
NM_000051.3(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.3(ATM):c.3342G>A (p.Lys1114=) rs138393322
NM_000051.3(ATM):c.3383A>G (p.Gln1128Arg) rs2229020
NM_000051.3(ATM):c.3517T>C (p.Leu1173=) rs141460670
NM_000051.3(ATM):c.370A>G (p.Ile124Val) rs148590073
NM_000051.3(ATM):c.378T>A (p.Asp126Glu) rs2234997
NM_000051.3(ATM):c.4138C>T (p.His1380Tyr) rs3092856
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.5228C>T (p.Thr1743Ile) rs587779844
NM_000051.3(ATM):c.5352C>T (p.Asn1784=) rs140641762
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.609C>T (p.Asp203=) rs144709948
NM_000051.3(ATM):c.6154G>A (p.Glu2052Lys) rs202206540
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.7494T>C (p.Ser2498=) rs34393781
NM_000051.3(ATM):c.7592T>C (p.Met2531Thr) rs587781365
NM_000051.3(ATM):c.7788+8G>T rs112775908
NM_000051.3(ATM):c.7928-10T>C rs188404773
NM_000051.3(ATM):c.8495G>T (p.Arg2832Leu) rs529296539
NM_000051.3(ATM):c.8584+10T>C rs373321041
NM_000051.3(ATM):c.8592C>T (p.Tyr2864=) rs56025670
NM_000051.3(ATM):c.8987+3G>A rs56360226
NM_000051.4(ATM):c.1066-6T>G rs201686625
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587
NM_000051.4(ATM):c.6795C>T rs3218699
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser) rs199915459
NM_000054.6(AVPR2):c.740G>A (p.Arg247His) rs149668713
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=) rs144206959
NM_000069.3(CACNA1S):c.1493G>A (p.Arg498His) rs150590855
NM_000069.3(CACNA1S):c.1670G>A (p.Arg557His) rs4915212
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235
NM_000069.3(CACNA1S):c.1948+10C>G rs201173419
NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met) rs147112322
NM_000069.3(CACNA1S):c.2439C>T (p.Ser813=) rs376863448
NM_000069.3(CACNA1S):c.345C>T (p.Asp115=) rs144218745
NM_000069.3(CACNA1S):c.3795+3G>A rs191758096
NM_000069.3(CACNA1S):c.383C>G (p.Thr128Ser) rs139491817
NM_000069.3(CACNA1S):c.3953+7G>A rs141071505
NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser) rs145910245
NM_000069.3(CACNA1S):c.4686T>C (p.Ile1562=) rs138423302
NM_000069.3(CACNA1S):c.5490_5497del (p.Leu1832fs) rs554596425
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614
NM_000070.2(CAPN3):c.1319G>A rs376107921
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676
NM_000070.3(CAPN3):c.1029+3A>G rs28364442
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.1303G>A (p.Glu435Lys) rs149914792
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr) rs774048743
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys) rs794726871
NM_000070.3(CAPN3):c.146G>A (p.Arg49His) rs863224958
NM_000070.3(CAPN3):c.1477C>T (p.Arg493Trp) rs557164942
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg) rs150226817
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln) rs121434544
NM_000070.3(CAPN3):c.1817C>T (p.Ser606Leu) rs199806879
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=) rs147774793
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290
NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) rs868791726
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625
NM_000070.3(CAPN3):c.2380+12del rs28364538
NM_000070.3(CAPN3):c.2381-2A>G rs863224962
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu) rs149095128
NM_000070.3(CAPN3):c.2433T>C (p.Val811=) rs28364543
NM_000070.3(CAPN3):c.245C>T (p.Pro82Leu) rs886042478
NM_000070.3(CAPN3):c.318C>T (p.Cys106=) rs117609395
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) rs1801505
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) rs35889956
NM_000070.3(CAPN3):c.606T>C (p.Ser202=) rs17593
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu) rs28364364
NM_000070.3(CAPN3):c.939G>A (p.Pro313=) rs78369269
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496
NM_000080.4(CHRNE):c.1017C>G (p.Ser339=) rs114454383
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) rs144169073
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu) rs139171143
NM_000080.4(CHRNE):c.45C>T (p.Leu15=) rs34563587
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His) rs780834658
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953
NM_000083.3(CLCN1):c.1655A>G (p.Gln552Arg) rs80356696
NM_000083.3(CLCN1):c.1842G>C (p.Lys614Asn) rs140205115
NM_000083.3(CLCN1):c.2230C>A (p.Pro744Thr) rs149316679
NM_000083.3(CLCN1):c.2284+5C>T rs74824159
NM_000083.3(CLCN1):c.2364+10G>A rs201855153
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271
NM_000083.3(CLCN1):c.2831dup (p.Gly945fs) rs755176513
NM_000083.3(CLCN1):c.412G>A (p.Val138Ile) rs762344462
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000083.3(CLCN1):c.651C>T (p.Val217=) rs144109732
NM_000083.3(CLCN1):c.799C>T (p.Leu267=) rs1563075864
NM_000083.3(CLCN1):c.803C>T (p.Thr268Met) rs80356687
NM_000083.3(CLCN1):c.86A>C (p.His29Pro) rs146160029
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu) rs202179484
NM_000083.3(CLCN1):c.899G>A (p.Arg300Gln) rs118066140
NM_000085.4(CLCNKB):c.1297+5G>T rs35351345
NM_000085.4(CLCNKB):c.1312C>T (p.Arg438Cys) rs121909133
NM_000085.4(CLCNKB):c.1409-6T>C rs115910575
NM_000085.4(CLCNKB):c.171G>A (p.Gly57=) rs150723240
NM_000085.4(CLCNKB):c.1877G>A (p.Cys626Tyr) rs143663847
NM_000085.4(CLCNKB):c.258G>A (p.Gly86=) rs143339401
NM_000085.4(CLCNKB):c.577-5C>T rs1889788
NM_000086.2(CLN3):c.313A>G (p.Ile105Val) rs11552531
NM_000086.2(CLN3):c.768C>T (p.Thr256=) rs145967477
NM_000088.3(COL1A1):c.1638C>T (p.Ser546=) rs146450504
NM_000088.3(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221
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.2838T>G (p.Pro946=) rs1555572418
NM_000088.3(COL1A1):c.299-15C>T rs199523510
NM_000088.3(COL1A1):c.3099+7T>C rs201682029
NM_000088.3(COL1A1):c.3123C>T (p.Pro1041=) rs145608939
NM_000088.3(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946
NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) rs72667032
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_000091.4(COL4A3):c.1096G>A (p.Gly366Arg) rs539765620
NM_000091.4(COL4A3):c.1201G>A (p.Gly401Arg) rs1559878824
NM_000091.4(COL4A3):c.1372G>C (p.Gly458Arg) rs757341933
NM_000091.4(COL4A3):c.1398T>C (p.Asp466=) rs145833114
NM_000091.4(COL4A3):c.222G>T (p.Pro74=) rs187950806
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.2593G>A (p.Gly865Ser) rs1559897190
NM_000091.4(COL4A3):c.346C>A (p.Pro116Thr) rs115324397
NM_000091.4(COL4A3):c.3566-9T>C rs147886850
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.4893C>T (p.Phe1631=) rs183218622
NM_000091.4(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532
NM_000091.4(COL4A3):c.997G>A (p.Gly333Arg) rs761819520
NM_000092.4(COL4A4):c.1223G>A (p.Gly408Glu) rs1026613471
NM_000092.4(COL4A4):c.1441G>A (p.Gly481Ser) rs181528936
NM_000092.4(COL4A4):c.195T>C (p.Gly65=) rs201278620
NM_000092.4(COL4A4):c.198A>G (p.Pro66=) rs147947155
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.2630G>A (p.Arg877Gln) rs150979437
NM_000092.4(COL4A4):c.2717-5A>T rs1800519
NM_000092.4(COL4A4):c.2907A>C (p.Ser969=) rs116354015
NM_000092.4(COL4A4):c.3317G>A (p.Gly1106Asp) rs1559482299
NM_000092.4(COL4A4):c.3506-8T>G rs761588725
NM_000092.4(COL4A4):c.3861delinsCTC (p.Arg1288fs) rs1575895541
NM_000092.4(COL4A4):c.4288G>A (p.Gly1430Arg) rs775926807
NM_000092.4(COL4A4):c.4760C>G (p.Pro1587Arg) rs190148408
NM_000092.4(COL4A4):c.482G>T (p.Gly161Val) rs745672795
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.50A>G (p.Lys17Arg) rs114969026
NM_000092.5(COL4A4):c.1045C>T rs534522842
NM_000092.5(COL4A4):c.2996G>A (p.Gly999Glu) rs13027659
NM_000092.5(COL4A4):c.3963T>C (p.Asp1321=) rs116124529
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_000092.5(COL4A4):c.929G>A (p.Arg310Gln) rs373741172
NM_000098.3(CPT2):c.1422C>A (p.Ala474=) rs192779168
NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe) rs749895856
NM_000100.3(CSTB):c.121G>A (p.Val41Met) rs143153487
NM_000109.4(DMD):c.1700T>C (p.Leu567Pro) rs370644567
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn) rs1801158
NM_000110.4(DPYD):c.1905+1G>A rs3918290
NM_000110.4(DPYD):c.2180-3T>C rs74104343
NM_000117.2(EMD):c.454C>T (p.Arg152Cys) rs376456050
NM_000117.2(EMD):c.537G>A (p.Leu179=) rs368661339
NM_000117.3(EMD):c.396C>T (p.His132=) rs145985318
NM_000142.4(FGFR3):c.1023G>A (p.Ala341=) rs147833498
NM_000142.4(FGFR3):c.1959+8C>T rs371666188
NM_000142.4(FGFR3):c.930+10C>T rs534857289
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser) rs61735104
NM_000142.5(FGFR3):c.2043G>A (p.Gly681=) rs17883356
NM_000142.5(FGFR3):c.2259C>T (p.Thr753=) rs146662137
NM_000144.5(FXN):c.123C>T (p.Gly41=) rs1057519131
NM_000144.5(FXN):c.179G>A (p.Arg60His) rs141858334
NM_000144.5(FXN):c.226A>G (p.Met76Val) rs59907886
NM_000144.5(FXN):c.384+8T>C rs367974156
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598
NM_000156.6(GAMT):c.581T>C (p.Val194Ala) rs147739199
NM_000156.6(GAMT):c.670G>A (p.Ala224Thr) rs141471799
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu) rs56127440
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432
NM_000162.5(GCK):c.*11C>T rs200698755
NM_000162.5(GCK):c.1019+18G>A rs150914617
NM_000162.5(GCK):c.1020-10C>A rs193922257
NM_000162.5(GCK):c.106C>T (p.Arg36Trp) rs762263694
NM_000162.5(GCK):c.1288C>T (p.Leu430=) rs193922276
NM_000162.5(GCK):c.1364T>A (p.Val455Glu) rs753795627
NM_000162.5(GCK):c.209-8G>A rs144798843
NM_000162.5(GCK):c.213C>T (p.Val71=) rs143128547
NM_000162.5(GCK):c.31G>A (p.Ala11Thr) rs116093166
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250
NM_000162.5(GCK):c.363+10G>A rs758495950
NM_000162.5(GCK):c.363+9C>T rs200985182
NM_000162.5(GCK):c.364-18A>G rs191255582
NM_000162.5(GCK):c.364-1G>A rs1057521094
NM_000162.5(GCK):c.46-12C>T rs142829768
NM_000162.5(GCK):c.483+14A>G rs74852379
NM_000162.5(GCK):c.540T>G (p.Asn180Lys) rs1554335444
NM_000162.5(GCK):c.572G>A (p.Arg191Gln) rs886042610
NM_000162.5(GCK):c.605T>C (p.Met202Thr) rs193922311
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656
NM_000162.5(GCK):c.660C>T (p.Cys220=) rs142952813
NM_000162.5(GCK):c.666C>T (p.Val222=) rs193922318
NM_000162.5(GCK):c.730G>A (p.Val244Met) rs1240035630
NM_000162.5(GCK):c.9C>T (p.Asp3=) rs142553382
NM_000166.6(GJB1):c.-101C>T rs961829342
NM_000166.6(GJB1):c.-17G>A rs879254047
NM_000166.6(GJB1):c.-27C>T rs879254157
NM_000166.6(GJB1):c.-77G>A rs190676487
NM_000166.6(GJB1):c.109G>T (p.Val37Leu) rs1057518946
NM_000166.6(GJB1):c.148T>C (p.Ser50Pro) rs913934445
NM_000166.6(GJB1):c.175G>C (p.Gly59Arg) rs1555937077
NM_000166.6(GJB1):c.239A>G (p.Gln80Arg) rs879254097
NM_000166.6(GJB1):c.297A>G (p.Gln99=) rs1213746899
NM_000166.6(GJB1):c.467T>G (p.Leu156Arg) rs104894818
NM_000166.6(GJB1):c.478T>C (p.Tyr160His) rs1555937197
NM_000166.6(GJB1):c.540C>G (p.Phe180Leu) rs771022595
NM_000166.6(GJB1):c.547C>T (p.Arg183Cys) rs863224471
NM_000166.6(GJB1):c.699G>A (p.Ser233=) rs769112084
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000170.2(GLDC):c.2053-5C>G rs140877566
NM_000170.2(GLDC):c.2113G>A (p.Val705Met) rs147275962
NM_000170.2(GLDC):c.2380G>A (p.Ala794Thr) rs141933811
NM_000170.2(GLDC):c.2919+3A>G rs73639325
NM_000170.2(GLDC):c.498T>C (p.Pro166=) rs150193069
NM_000193.4(SHH):c.1078C>T (p.Leu360=) rs191903572
NM_000193.4(SHH):c.570G>A (p.Ser190=) rs9333633
NM_000193.4(SHH):c.869G>A (p.Gly290Asp) rs104894047
NM_000207.3(INS):c.*9C>T rs3842752
NM_000209.4(PDX1):c.165C>A (p.Gly55=) rs530567443
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783
NM_000209.4(PDX1):c.336C>G (p.Pro112=) rs149275902
NM_000209.4(PDX1):c.543C>T (p.Val181=) rs75498935
NM_000209.4(PDX1):c.6C>T (p.Asn2=) rs146936598
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln) rs199644078
NM_000209.4(PDX1):c.725C>T (p.Pro242Leu) rs193922358
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr) rs192902098
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.611G>A (p.Arg204His) rs2229000
NM_000217.3(KCNA1):c.684T>C (p.Cys228=) rs1048500
NM_000217.3(KCNA1):c.804G>C (p.Thr268=) rs2227910
NM_000218.3(KCNQ1):c.-5T>C rs532941548
NM_000219.6(KCNE1):c.24G>A (p.Ala8=) rs144094344
NM_000231.2(SGCG):c.435C>T (p.Asn145=) rs35628352
NM_000231.2(SGCG):c.832G>A (p.Gly278Ser) rs147820869
NM_000231.3(SGCG):c.228T>C (p.Asp76=) rs1800350
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423
NM_000232.4(SGCB):c.799C>T (p.Arg267Cys) rs200761715
NM_000232.4(SGCB):c.92G>T (p.Ser31Ile) rs115928999
NM_000232.4(SGCB):c.9_14dup (p.Ala8_Ala9dup) rs886044103
NM_000232.5(SGCB):c.341C>T rs150518260
NM_000238.3(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.3(KCNH2):c.3153-4C>T rs181119727
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) rs143011005
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=) rs200799870
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) rs199472864
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1]) rs551056698
NM_000244.3(MEN1):c.1636G>A (p.Ala546Thr) rs2959656
NM_000245.4(MET):c.1124A>G (p.Asn375Ser) rs33917957
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007
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_000256.3(MYBPC3):c.501C>T (p.Thr167=) rs397516054
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816
NM_000257.4(MYH7):c.2162+4G>A rs145738465
NM_000257.4(MYH7):c.240C>T (p.Asn80=) rs200493975
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831
NM_000257.4(MYH7):c.3853+7C>T rs45467397
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=) rs3729821
NM_000257.4(MYH7):c.4353+10G>A rs202205780
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.77C>T (p.Ala26Val) rs186964570
NM_000257.4(MYH7):c.930T>C (p.Tyr310=) rs111626355
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124
NM_000260.4(MYO7A):c.2122A>G (p.Met708Val) rs397516293
NM_000260.4(MYO7A):c.2187+1G>A rs111033290
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606
NM_000260.4(MYO7A):c.3503+10G>A
NM_000260.4(MYO7A):c.3750+9G>A rs111033252
NM_000260.4(MYO7A):c.5327-10C>T
NM_000260.4(MYO7A):c.5559C>T (p.His1853=) rs373612656
NM_000267.3(NF1):c.655-29T>C rs182325576
NM_000268.4(NF2):c.12C>T (p.Ala4=) rs144477078
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695
NM_000287.4(PEX6):c.330C>G (p.Thr110=) rs140486558
NM_000288.4(PEX7):c.339+10A>G rs374668045
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) rs61753245
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896
NM_000297.4(PKD2):c.2019+1G>A rs1553927080
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup) rs750077647
NM_000297.4(PKD2):c.570G>T (p.Ala190=) rs541702320
NM_000297.4(PKD2):c.784G>A (p.Val262Met) rs138132026
NM_000304.4(PMP22):c.138del (p.Ser47fs) rs864622180
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro) rs104894623
NM_000304.4(PMP22):c.233T>C (p.Leu78Pro) rs1555565276
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000304.4(PMP22):c.403G>A (p.Ala135Thr) rs141094419
NM_000304.4(PMP22):c.68C>G (p.Thr23Arg) rs906563423
NM_000306.4(POU1F1):c.666-5G>A rs76296626
NM_000310.3(PPT1):c.401T>C (p.Ile134Thr) rs1800205
NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys) rs766463226
NM_000334.4(SCN4A):c.1173del (p.Phe392fs) rs1235665641
NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr) rs185941768
NM_000334.4(SCN4A):c.1653C>T (p.Cys551=) rs201199086
NM_000334.4(SCN4A):c.1710C>T (p.Ile570=) rs760067411
NM_000334.4(SCN4A):c.1902C>T (p.Pro634=) rs368811155
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.204C>T (p.Tyr68=) rs80266947
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr) rs1057518865
NM_000334.4(SCN4A):c.2697G>A (p.Leu899=) rs199827271
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682
NM_000334.4(SCN4A):c.2748C>G (p.Asn916Lys) rs115379510
NM_000334.4(SCN4A):c.2854-5C>T rs374039266
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.3285C>T (p.Asn1095=) rs371401377
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr) rs80338958
NM_000334.4(SCN4A):c.403A>C (p.Met135Leu) rs148028364
NM_000334.4(SCN4A):c.4215C>T (p.Leu1405=) rs141215137
NM_000334.4(SCN4A):c.4288+10G>T rs114059193
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr)
NM_000334.4(SCN4A):c.4410G>A (p.Thr1470=) rs534861830
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192
NM_000334.4(SCN4A):c.483-5C>A rs191547933
NM_000334.4(SCN4A):c.483-9C>A rs201552497
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile) rs1064794243
NM_000334.4(SCN4A):c.5190C>T (p.Cys1730=) rs113277954
NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=) rs189230866
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.969G>A (p.Thr323=) rs1429424012
NM_000334.4(SCN4A):c.999C>T (p.Asn333=) rs149726115
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=) rs370346797
NM_000335.5(SCN5A):c.1068T>C (p.Asp356=) rs41313703
NM_000335.5(SCN5A):c.1236C>T (p.Val412=) rs45565936
NM_000335.5(SCN5A):c.1479G>A (p.Arg493=) rs138870926
NM_000335.5(SCN5A):c.1569T>A (p.Arg523=) rs41313693
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=) rs45624133
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=) rs45522138
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=) rs41313687
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962
NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=) rs9858585
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=) rs45489099
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117
NM_000335.5(SCN5A):c.717C>T (p.Ile239=) rs41285129
NM_000335.5(SCN5A):c.856G>T (p.Ala286Ser) rs61746118
NM_000335.5(SCN5A):c.954C>T (p.Asn318=) rs372623225
NM_000336.3(SCNN1B):c.1543-17C>T rs35074083
NM_000336.3(SCNN1B):c.1887C>T (p.Asp629=) rs61759917
NM_000336.3(SCNN1B):c.777-5T>C rs61759915
NM_000337.5(SGCD):c.*2A>C rs200757725
NM_000337.5(SGCD):c.144G>C (p.Val48=) rs372152495
NM_000337.5(SGCD):c.294+8T>C rs11748588
NM_000337.5(SGCD):c.507G>A (p.Ala169=) rs10071079
NM_000337.5(SGCD):c.510G>A (p.Glu170=) rs368838376
NM_000337.5(SGCD):c.699+13_699+15del rs397517924
NM_000338.3(SLC12A1):c.189G>A (p.Arg63=) rs35240149
NM_000338.3(SLC12A1):c.3096+7A>T rs200662267
NM_000338.3(SLC12A1):c.708C>T (p.Asn236=) rs141106709
NM_000338.3(SLC12A1):c.71G>A (p.Ser24Asn) rs35342218
NM_000344.3(SMN1):c.419A>T (p.Asp140Val) rs1554081968
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.93_96dup (p.Ile33Ter) rs1554081950
NM_000352.5(ABCC8):c.1924-10C>T rs200823913
NM_000352.5(ABCC8):c.2041-12C>T rs201419039
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=) rs60824529
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln) rs72559734
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=) rs1801261
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=) rs371089976
NM_000352.6(ABCC8):c.3784G>A (p.Ala1262Thr) rs1266053680
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=) rs138141427
NM_000352.6(ABCC8):c.3989-10C>T rs373737642
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110
NM_000352.6(ABCC8):c.423G>A (p.Val141=) rs116132921
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715
NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn) rs142272833
NM_000356.4(TCOF1):c.3819G>A (p.Ser1273=) rs114169102
NM_000356.4(TCOF1):c.4061G>C (p.Gly1354Ala) rs45491898
NM_000356.4(TCOF1):c.640-1981_640-1964del rs528897827
NM_000356.4(TCOF1):c.797G>A (p.Ser266Asn) rs144327167
NM_000356.4(TCOF1):c.889G>T (p.Ala297Ser) rs112039991
NM_000356.4(TCOF1):c.998C>T (p.Ser333Leu) rs114326915
NM_000360.4(TH):c.1200+9C>T rs11564717
NM_000360.4(TH):c.1278G>A (p.Thr426=) rs36097848
NM_000360.4(TH):c.1401C>T (p.Asp467=) rs3842724
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599
NM_000368.4(TSC1):c.340C>T (p.Pro114Ser) rs779395169
NM_000368.4(TSC1):c.851G>A (p.Arg284His) rs151309813
NM_000368.4(TSC1):c.915G>C (p.Gly305=) rs397515293
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) rs118203670
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081
NM_000368.5(TSC1):c.3324C>T rs35593170
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter) rs118203434
NM_000370.3(TTPA):c.558A>G (p.Ser186=) rs774283073
NM_000371.3(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000371.3(TTR):c.384C>T (p.Ala128=) rs143906738
NM_000371.3(TTR):c.88T>C (p.Cys30Arg) rs121918083
NM_000371.4(TTR):c.238A>G (p.Thr80Ala) rs121918070
NM_000371.4(TTR):c.349G>T (p.Ala117Ser) rs267607161
NM_000371.4(TTR):c.354C>T (p.Asn118=) rs11541797
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981
NM_000371.4(TTR):c.417G>A (p.Thr139=) rs2276382
NM_000383.4(AIRE):c.1095+6G>A rs1800525
NM_000383.4(AIRE):c.1197T>C (p.Ala399=) rs1800521
NM_000383.4(AIRE):c.1566+8C>T rs72650680
NM_000383.4(AIRE):c.1578T>C (p.Asp526=) rs1133779
NM_000383.4(AIRE):c.588C>T (p.Ser196=) rs878081
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg) rs1800520
NM_000383.4(AIRE):c.99T>C (p.Ala33=) rs3746964
NM_000388.4(CASR):c.2064C>T (p.Phe688=) rs150869744
NM_000388.4(CASR):c.2730C>A (p.Pro910=) rs34200949
NM_000388.4(CASR):c.2777A>G (p.Gln926Arg) rs200263975
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser) rs142704083
NM_000388.4(CASR):c.60C>T (p.Tyr20=) rs201564143
NM_000388.4(CASR):c.679C>T (p.Arg227Ter) rs1085307984
NM_000388.4(CASR):c.6A>C (p.Ala2=) rs112042188
NM_000388.4(CASR):c.73C>T (p.Arg25Ter) rs201633414
NM_000391.4(TPP1):c.1044C>T (p.Ala348=) rs35706972
NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln) rs138744051
NM_000391.4(TPP1):c.1266+5G>A rs1800753
NM_000391.4(TPP1):c.1494C>T (p.Pro498=) rs117942457
NM_000391.4(TPP1):c.1497T>C (p.Pro499=) rs142672910
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396
NM_000391.4(TPP1):c.260A>G (p.Asp87Gly) rs148064565
NM_000391.4(TPP1):c.381-10dup rs146315473
NM_000391.4(TPP1):c.542C>T (p.Ser181Phe) rs139059149
NM_000391.4(TPP1):c.83G>A (p.Arg28Gln) rs369126677
NM_000391.4(TPP1):c.840G>C (p.Leu280=) rs140349036
NM_000399.5(EGR2):c.1086A>C (p.Arg362=) rs45602133
NM_000399.5(EGR2):c.108G>A (p.Val36=) rs746579337
NM_000400.4(ERCC2):c.1866C>T (p.Gly622=) rs16979773
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000426.3(LAMA2):c.1308T>G (p.Gly436=) rs41285286
NM_000426.3(LAMA2):c.1400A>G (p.Lys467Arg) rs138162760
NM_000426.3(LAMA2):c.1403C>G (p.Ala468Gly) rs111695726
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.1814C>T (p.Thr605Ile) rs112388307
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.4436+8T>C rs192650285
NM_000426.3(LAMA2):c.4437-5T>A rs41285288
NM_000426.3(LAMA2):c.4470C>T (p.Asp1490=) rs35089085
NM_000426.3(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184
NM_000426.3(LAMA2):c.4935C>A (p.Thr1645=) rs35579821
NM_000426.3(LAMA2):c.5072-6del rs398123376
NM_000426.3(LAMA2):c.5247C>T (p.Ala1749=) rs149951387
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.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.7118C>T (p.Ser2373Leu) rs758887080
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.8244+3_8244+6del rs746678525
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.8755C>T (p.Pro2919Ser) rs143026295
NM_000426.3(LAMA2):c.9060G>A (p.Leu3020=) rs368896579
NM_000426.3(LAMA2):c.9123C>T (p.Val3041=) rs61749497
NM_000426.3(LAMA2):c.922G>A (p.Glu308Lys) rs146462599
NM_000426.4(LAMA2):c.1586G>A rs370691060
NM_000430.4(PAFAH1B1):c.780A>G (p.Val260=) rs150380620
NM_000435.3(NOTCH3):c.1036+10C>T rs776962888
NM_000435.3(NOTCH3):c.120C>G (p.Ala40=) rs146904189
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr) rs886041513
NM_000435.3(NOTCH3):c.1607-5C>A rs372869012
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000435.3(NOTCH3):c.1725G>C (p.Thr575=) rs79926127
NM_000435.3(NOTCH3):c.1774C>T (p.Arg592Cys) rs764148985
NM_000435.3(NOTCH3):c.1816T>C (p.Cys606Arg) rs1568359346
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303
NM_000435.3(NOTCH3):c.1840+8C>T rs372100017
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp) rs148046938
NM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser) rs1555730176
NM_000435.3(NOTCH3):c.203C>T (p.Pro68Leu) rs146810942
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys) rs144163298
NM_000435.3(NOTCH3):c.2175T>C (p.Ser725=) rs141993521
NM_000435.3(NOTCH3):c.245G>T (p.Cys82Phe) rs1023306013
NM_000435.3(NOTCH3):c.2507C>T (p.Thr836Ile) rs34338511
NM_000435.3(NOTCH3):c.2932A>C (p.Ser978Arg) rs141956294
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys) rs1167405466
NM_000435.3(NOTCH3):c.3182G>A (p.Cys1061Tyr) rs1064794216
NM_000435.3(NOTCH3):c.3356G>A (p.Cys1119Tyr) rs1266914122
NM_000435.3(NOTCH3):c.351C>T (p.Cys117=) rs200881673
NM_000435.3(NOTCH3):c.3569G>A (p.Arg1190His) rs372241697
NM_000435.3(NOTCH3):c.3658C>T (p.Arg1220Trp) rs115872852
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145
NM_000435.3(NOTCH3):c.391G>A (p.Gly131Ser)
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.3(NOTCH3):c.4025C>A (p.Ala1342Asp) rs888391580
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093
NM_000435.3(NOTCH3):c.436T>C (p.Cys146Arg) rs1555729510
NM_000435.3(NOTCH3):c.4679G>C (p.Arg1560Pro) rs78501403
NM_000435.3(NOTCH3):c.4728G>C (p.Glu1576Asp)
NM_000435.3(NOTCH3):c.4858C>T (p.Leu1620=) rs144401090
NM_000435.3(NOTCH3):c.4869G>C (p.Pro1623=) rs148574670
NM_000435.3(NOTCH3):c.4875A>C (p.Pro1625=) rs538466132
NM_000435.3(NOTCH3):c.487C>T (p.Arg163Trp) rs367707092
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451
NM_000435.3(NOTCH3):c.5114+10C>G rs369547319
NM_000435.3(NOTCH3):c.5200-4C>A rs375036447
NM_000435.3(NOTCH3):c.5376G>A (p.Pro1792=) rs374875084
NM_000435.3(NOTCH3):c.5895G>A (p.Lys1965=) rs140567100
NM_000435.3(NOTCH3):c.591C>T (p.Pro197=) rs367943979
NM_000435.3(NOTCH3):c.6024G>A (p.Pro2008=) rs766274305
NM_000435.3(NOTCH3):c.6031G>A (p.Val2011Ile) rs142007575
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met) rs199620476
NM_000435.3(NOTCH3):c.6092G>A (p.Arg2031His)
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348
NM_000435.3(NOTCH3):c.6237G>A (p.Gly2079=) rs376598183
NM_000435.3(NOTCH3):c.6300G>A (p.Ser2100=) rs183839795
NM_000435.3(NOTCH3):c.6632A>G (p.Tyr2211Cys) rs369813654
NM_000435.3(NOTCH3):c.665G>A (p.Cys222Tyr) rs1555729452
NM_000435.3(NOTCH3):c.6747C>T (p.Pro2249=) rs769454994
NM_000435.3(NOTCH3):c.6809C>T (p.Thr2270Met) rs148716935
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243
NM_000441.2(SLC26A4):c.1545-5T>G rs77944876
NM_000441.2(SLC26A4):c.15C>A (p.Gly5=) rs7811324
NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr) rs146269871
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly) rs17154335
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser) rs17154353
NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu) rs111033304
NM_000444.6(PHEX):c.10G>C (p.Glu4Gln) rs147859619
NM_000444.6(PHEX):c.1482+1G>A rs1064793228
NM_000444.6(PHEX):c.1768+5G>A rs1057524608
NM_000445.5(PLEC):c.133G>A (p.Gly45Ser) rs201820569
NM_000447.3(PSEN2):c.166G>A (p.Gly56Ser) rs188598190
NM_000447.3(PSEN2):c.364A>C (p.Thr122Pro) rs63749851
NM_000447.3(PSEN2):c.415G>A (p.Val139Met) rs202178897
NM_000447.3(PSEN2):c.954C>T (p.Pro318=) rs199587016
NM_000451.3(SHOX):c.144G>A (p.Glu48=) rs750638027
NM_000451.3(SHOX):c.63C>T (p.Gly21=) rs142306835
NM_000451.3(SHOX):c.702G>A (p.Ala234=) rs576542942
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.289G>A (p.Asp97Asn) rs121912459
NM_000457.4(HNF4A):c.116-5C>T rs745975
NM_000457.4(HNF4A):c.1203C>T (p.Asn401=) rs61737145
NM_000457.4(HNF4A):c.505G>A (p.Val169Ile) rs142204928
NM_000457.4(HNF4A):c.810C>T (p.Asp270=) rs6031592
NM_000458.4(HNF1B):c.1045+12T>C rs141166864
NM_000458.4(HNF1B):c.1594A>G (p.Met532Val) rs141193981
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
NM_000458.4(HNF1B):c.657C>T (p.Ser219=) rs148713761
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
NM_000458.4(HNF1B):c.951C>G (p.Ala317=) rs145750370
NM_000466.3(PEX1):c.1579A>G (p.Thr527Ala) rs144942544
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014
NM_000478.6(ALPL):c.1381G>A (p.Val461Ile) rs34810399
NM_000478.6(ALPL):c.330= (p.Ser110=) rs1780316
NM_000478.6(ALPL):c.335_340dup (p.Gly112_Thr113dup) rs931041761
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982
NM_000478.6(ALPL):c.522del (p.Ser175fs) rs750174638
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019
NM_000478.6(ALPL):c.744C>T (p.Asp248=) rs188689330
NM_000478.6(ALPL):c.818C>T (p.Thr273Met) rs148405563
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290
NM_000481.4(AMT):c.898A>G (p.Met300Val) rs144971200
NM_000484.4(APP):c.592T>C (p.Ser198Pro) rs145081708
NM_000486.5(AQP2):c.190G>A (p.Gly64Arg) rs104894326
NM_000489.5(ATRX):c.2000C>T (p.Pro667Leu) rs61752457
NM_000489.5(ATRX):c.2785= (p.Glu929=) rs3088074
NM_000489.5(ATRX):c.3541G>C (p.Val1181Leu) rs61758732
NM_000489.5(ATRX):c.5968T>A (p.Ser1990Thr) rs142180002
NM_000497.3(CYP11B1):c.1003A>G (p.Asn335Asp) rs61752766
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.1266C>T (p.Arg422=) rs4998902
NM_000497.3(CYP11B1):c.1331G>A (p.Gly444Asp) rs779103938
NM_000497.3(CYP11B1):c.1353T>C (p.Leu451=) rs5316
NM_000497.3(CYP11B1):c.1451T>A (p.Val484Asp) rs374517238
NM_000497.3(CYP11B1):c.554C>G (p.Thr185Ser) rs566921201
NM_000497.3(CYP11B1):c.743C>T (p.Thr248Ile) rs34620645
NM_000497.3(CYP11B1):c.954G>A (p.Thr318=) rs753774484
NM_000497.4(CYP11B1):c.456C>G (p.Asn152Lys) rs61751149
NM_000497.4(CYP11B1):c.459T>C (p.Ala153=) rs61751150
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu) rs184649564
NM_000500.9(CYP21A2):c.806G>C (p.Ser269Thr) rs6472
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.9(CYP21A2):c.874G>A (p.Gly292Ser) rs201552310
NM_000503.6(EYA1):c.840C>A (p.Ile280=) rs55972891
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.354G>A (p.Ser118=) rs140636367
NM_000525.3(KCNJ11):c.570C>T (p.Ala190=) rs5218
NM_000525.3(KCNJ11):c.584G>A (p.Arg195His) rs5217
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.313+1G>A
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000530.8(MPZ):c.176C>T (p.Ser59Leu) rs879254297
NM_000530.8(MPZ):c.210C>T (p.Pro70=) rs545129173
NM_000530.8(MPZ):c.233C>G (p.Ser78Trp) rs121913601
NM_000530.8(MPZ):c.293G>T (p.Arg98Leu) rs121913589
NM_000530.8(MPZ):c.385G>A (p.Val129Ile) rs201156403
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.51G>A (p.Leu17=) rs149637045
NM_000530.8(MPZ):c.646-7C>G rs377495735
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del) rs755446743
NM_000533.5(PLP1):c.-31C>T rs2233695
NM_000533.5(PLP1):c.168A>G (p.Gln56=) rs2233697
NM_000533.5(PLP1):c.609T>C (p.Asp203=) rs1126707
NM_000540.2(RYR1):c.10627-1G>C rs1568539909
NM_000540.2(RYR1):c.12283-7C>T rs143861818
NM_000540.2(RYR1):c.131G>A (p.Arg44His) rs139161723
NM_000540.2(RYR1):c.14505G>A (p.Gly4835=) rs118126378
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.216G>T (p.Leu72=) rs113389877
NM_000540.2(RYR1):c.2366G>A (p.Arg789Gln) rs200069592
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.4894C>T (p.Pro1632Ser) rs76537615
NM_000540.2(RYR1):c.614G>C (p.Cys205Ser) rs201834803
NM_000540.2(RYR1):c.7615-7G>A rs146159174
NM_000540.2(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584
NM_000540.2(RYR1):c.8376G>A (p.Arg2792=) rs150388417
NM_000540.2(RYR1):c.8616+7G>A rs200023171
NM_000540.2(RYR1):c.9605C>T (p.Pro3202Leu) rs754002399
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.297G>A (p.Thr99=) rs144241486
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463
NM_000545.6(HNF1A):c.1015G>A (p.Gly339Ser) rs766790596
NM_000545.6(HNF1A):c.1165T>G (p.Leu389Val) rs115080759
NM_000545.6(HNF1A):c.1323G>A (p.Thr441=) rs138996307
NM_000545.6(HNF1A):c.1375C>T (p.Leu459=) rs2259820
NM_000545.6(HNF1A):c.1424C>T (p.Pro475Leu) rs193922580
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.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_000545.6(HNF1A):c.92G>A (p.Gly31Asp) rs137853247
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg) rs137854298
NM_000548.5(TSC2):c.1292C>T (p.Ala431Val) rs202187148
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val) rs45517171
NM_000548.5(TSC2):c.1543C>T (p.Leu515=) rs35896166
NM_000548.5(TSC2):c.1981G>A (p.Gly661Ser) rs137854168
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208
NM_000548.5(TSC2):c.2032G>A (p.Ala678Thr) rs200494044
NM_000548.5(TSC2):c.2639+10C>T rs137854378
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val) rs137854155
NM_000548.5(TSC2):c.272C>T (p.Pro91Leu) rs45482691
NM_000548.5(TSC2):c.2784C>T (p.Pro928=) rs45517267
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro) rs45491698
NM_000548.5(TSC2):c.3489C>T (p.Ala1163=) rs200346578
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=) rs45486193
NM_000548.5(TSC2):c.3883+8C>G rs45517316
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.5(TSC2):c.3969G>A (p.Ala1323=) rs749057825
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu) rs148527903
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898
NM_000548.5(TSC2):c.4293G>A (p.Ser1431=) rs45487992
NM_000548.5(TSC2):c.4493+7C>A rs199943270
NM_000548.5(TSC2):c.4680C>T (p.Ala1560=) rs139507276
NM_000548.5(TSC2):c.5094C>A (p.Ser1698Arg) rs45514196
NM_000548.5(TSC2):c.5131G>A (p.Val1711Met) rs139779505
NM_000548.5(TSC2):c.5259+1del rs137854317
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys) rs45517423
NM_000548.5(TSC2):c.5397G>A (p.Ser1799=) rs1051771
NM_000548.5(TSC2):c.975+7C>T rs372463702
NM_000551.4(VHL):c.340+5G>C rs61758376
NM_000601.6(HGF):c.333A>G (p.Glu111=) rs5745635
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=) rs1063125
NM_000702.4(ATP1A2):c.129G>A (p.Lys43=) rs61734527
NM_000702.4(ATP1A2):c.2130C>T (p.Ala710=) rs374749325
NM_000702.4(ATP1A2):c.2273G>C (p.Gly758Ala) rs147183887
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=) rs146839867
NM_000702.4(ATP1A2):c.2961C>T (p.Cys987=) rs74123254
NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser) rs116711766
NM_000722.4(CACNA2D1):c.1956-4del rs3083235
NM_000722.4(CACNA2D1):c.1983G>A (p.Ser661=) rs75158917
NM_000722.4(CACNA2D1):c.2837-7A>G rs112176710
NM_000726.4(CACNB4):c.*4T>C rs556761275
NM_000726.4(CACNB4):c.1239G>A (p.Leu413=) rs1805028
NM_000726.4(CACNB4):c.1303-3T>C rs143442080
NM_000726.4(CACNB4):c.1355G>A (p.Arg452Lys) rs762394421
NM_000726.4(CACNB4):c.1437G>A (p.Gln479=) rs794727118
NM_000726.4(CACNB4):c.222A>T (p.Arg74=) rs553682728
NM_000726.4(CACNB4):c.288C>T (p.Ala96=) rs558998873
NM_000726.4(CACNB4):c.44C>G (p.Pro15Arg) rs200662010
NM_000726.4(CACNB4):c.54C>A (p.Pro18=) rs373222155
NM_000726.4(CACNB4):c.762T>A (p.Ile254=) rs61736804
NM_000726.5(CACNB4):c.8C>T (p.Ser3Phe) rs542973906
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740
NM_000742.4(CHRNA2):c.1530C>T (p.Ile510=) rs149142237
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp) rs138682847
NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr) rs77710085
NM_000744.7(CHRNA4):c.1203G>C (p.Leu401=) rs56142348
NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=) rs45569837
NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=) rs1044396
NM_000744.7(CHRNA4):c.1637T>G (p.Val546Gly) rs764888239
NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=) rs1044397
NM_000744.7(CHRNA4):c.225C>T (p.Asp75=) rs113080067
NM_000744.7(CHRNA4):c.402G>A (p.Ala134=) rs201488442
NM_000744.7(CHRNA4):c.639T>C (p.Asp213=) rs1044393
NM_000744.7(CHRNA4):c.678T>C (p.Cys226=) rs1044394
NM_000744.7(CHRNA4):c.681C>A (p.Ala227=) rs45588436
NM_000744.7(CHRNA4):c.858C>T (p.Thr286=) rs121912257
NM_000744.7(CHRNA4):c.876C>T (p.Ile292=) rs139694653
NM_000744.7(CHRNA4):c.978C>T (p.Phe326=) rs76270730
NM_000748.3(CHRNB2):c.109C>T (p.Leu37=) rs71651693
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) rs55685423
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=) rs55857552
NM_000748.3(CHRNB2):c.1235G>A (p.Gly412Asp) rs112585933
NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=) rs144813907
NM_000748.3(CHRNB2):c.77C>T (p.Thr26Met) rs71651692
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) rs41265127
NM_000756.4(CRH):c.456G>A (p.Arg152=) rs144205489
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_000814.6(GABRB3):c.1265C>T (p.Pro422Leu) rs369631109
NM_000814.6(GABRB3):c.1293G>A (p.Arg431=) rs75914945
NM_000815.5(GABRD):c.1060-7C>T rs368961588
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.228C>T (p.Thr76=) rs77299791
NM_000834.4(GRIN2B):c.2514C>T (p.Cys838=) rs3026160
NM_000834.4(GRIN2B):c.2691C>T (p.Asn897=) rs35125534
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.3837T>G (p.Thr1279=) rs1806200
NM_000834.4(GRIN2B):c.4105G>A (p.Gly1369Ser) rs371190262
NM_000834.4(GRIN2B):c.4113C>T (p.Tyr1371=) rs146792012
NM_000834.4(GRIN2B):c.4197T>C (p.His1399=) rs1805247
NM_000834.4(GRIN2B):c.504C>A (p.Ile168=) rs36031537
NM_000834.5(GRIN2B):c.2664C>T (p.Thr888=) rs1806201
NM_000891.2(KCNJ2):c.1200G>A (p.Thr400=) rs201253055
NM_001002295.2(GATA3):c.573C>T (p.Pro191=) rs35508267
NM_001003679.3(LEPR):c.1029T>C (p.Ser343=) rs1805134
NM_001003679.3(LEPR):c.1968G>C (p.Lys656Asn) rs1805094
NM_001003800.2(BICD2):c.269A>G (p.Lys90Arg) rs61754130
NM_001005360.2(DNM2):c.1384A>G (p.Thr462Ala) rs201575500
NM_001005360.2(DNM2):c.162-7C>A rs148318860
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.1902C>T (p.Asn634=) rs2229919
NM_001005360.2(DNM2):c.2061G>A (p.Thr687=) rs149164657
NM_001005360.2(DNM2):c.2201A>G (p.Asn734Ser) rs577767034
NM_001005360.2(DNM2):c.236-8C>G rs143084059
NM_001005360.2(DNM2):c.2543+7C>G rs201979143
NM_001005360.2(DNM2):c.2592C>T (p.Ala864=) rs373161548
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_001005361.3(DNM2):c.2139T>C (p.Ala713=) rs2229920
NM_001005746.4(CACNB4):c.-2T>G rs369342902
NM_001007792.1(NTRK1):c.1779C>T (p.Ala593=) rs6337
NM_001007792.1(NTRK1):c.1800G>A (p.Ala600=) rs17838192
NM_001007792.1(NTRK1):c.2164G>A (p.Ala722Thr) rs62640939
NM_001007792.1(NTRK1):c.2231G>A (p.Arg744Gln) rs35669708
NM_001008212.2(OPTN):c.489A>G (p.Glu163=) rs113811959
NM_001008537.3(NEXMIF):c.151C>A (p.Pro51Thr) rs145018752
NM_001008537.3(NEXMIF):c.2373A>C (p.Thr791=) rs61742545
NM_001008537.3(NEXMIF):c.2598C>A (p.Ser866=) rs41298498
NM_001008537.3(NEXMIF):c.3555G>T (p.Gly1185=) rs142714242
NM_001008537.3(NEXMIF):c.3709A>T (p.Met1237Leu) rs61731613
NM_001009944.3(PKD1):c.10531C>G (p.Leu3511Val) rs141946034
NM_001009944.3(PKD1):c.10619G>C (p.Gly3540Ala) rs201409107
NM_001009944.3(PKD1):c.11015G>A (p.Arg3672Gln) rs201220835
NM_001009944.3(PKD1):c.11537+3_11537+5dup rs201204878
NM_001009944.3(PKD1):c.11717G>T (p.Cys3906Phe) rs369291413
NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=) rs112387277
NM_001009944.3(PKD1):c.12003+14_12003+33del rs1567148835
NM_001009944.3(PKD1):c.12139-5C>T rs146430229
NM_001009944.3(PKD1):c.182C>T (p.Pro61Leu) rs886038369
NM_001009944.3(PKD1):c.2039A>T (p.Tyr680Phe) rs370141157
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=) rs148727945
NM_001009944.3(PKD1):c.3679G>T (p.Ala1227Ser) rs150710956
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp) rs143690392
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn) rs141274774
NM_001009944.3(PKD1):c.4495C>T (p.Leu1499=) rs142002333
NM_001009944.3(PKD1):c.4546G>A (p.Ala1516Thr) rs148164067
NM_001009944.3(PKD1):c.4917C>T (p.Gly1639=) rs148852027
NM_001009944.3(PKD1):c.5453C>T (p.Ala1818Val) rs746910149
NM_001009944.3(PKD1):c.5611G>A (p.Ala1871Thr) rs144137200
NM_001009944.3(PKD1):c.5648C>T (p.Ala1883Val) rs779745348
NM_001009944.3(PKD1):c.5770G>A (p.Gly1924Ser) rs199947459
NM_001009944.3(PKD1):c.5847C>T (p.Ser1949=) rs80111665
NM_001009944.3(PKD1):c.588C>T (p.Ser196=) rs776302294
NM_001009944.3(PKD1):c.6621C>G (p.Pro2207=) rs575553075
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp) rs752793757
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481
NM_001009944.3(PKD1):c.7275C>T (p.Gly2425=) rs115772084
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp)
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr) rs200037070
NM_001009944.3(PKD1):c.7642G>C (p.Glu2548Gln) rs28369051
NM_001009944.3(PKD1):c.8020C>T (p.Pro2674Ser) rs144557371
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val) rs200509641
NM_001009944.3(PKD1):c.8123C>T (p.Thr2708Met) rs147350387
NM_001009944.3(PKD1):c.8218G>T (p.Gly2740Ter) rs1555451368
NM_001009944.3(PKD1):c.8305C>T (p.Leu2769Phe) rs771382752
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897
NM_001009944.3(PKD1):c.8364G>A (p.Ser2788=) rs145176597
NM_001009944.3(PKD1):c.837G>A (p.Gly279=) rs372124319
NM_001009944.3(PKD1):c.8713G>A (p.Val2905Ile) rs147788838
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys) rs1232180956
NM_001031737.3(CCDC78):c.492+1G>A rs138669350
NM_001037.5(SCN1B):c.267C>T (p.Arg89=) rs140949982
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser) rs72552027
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile) rs72558029
NM_001037.5(SCN1B):c.448+8G>C rs200222933
NM_001037.5(SCN1B):c.449-3C>A rs370937269
NM_001037.5(SCN1B):c.588T>C (p.Asn196=) rs77244433
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr) rs150721582
NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=) rs61736168
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met) rs72773422
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) rs5738
NM_001039141.3(TRIOBP):c.391G>A (p.Gly131Ser) rs144634857
NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln) rs34066624
NM_001039141.3(TRIOBP):c.5588C>T (p.Ala1863Val) rs140528529
NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile) rs143157673
NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu) rs201724032
NM_001039141.3(TRIOBP):c.6736G>A (p.Glu2246Lys) rs138139146
NM_001039523.3(CHRNA1):c.615+4G>C rs112674580
NM_001039523.3(CHRNA1):c.718G>A (p.Asp240Asn) rs148304857
NM_001039523.3(CHRNA1):c.730C>T (p.Leu244=) rs150638770
NM_001039876.3(SYNE4):c.972+5G>A rs369269989
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658
NM_001040142.2(SCN2A):c.1269G>A (p.Val423=) rs139815570
NM_001040142.2(SCN2A):c.1976G>A (p.Gly659Asp) rs368887417
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446
NM_001040142.2(SCN2A):c.2083T>C (p.Leu695=) rs368043574
NM_001040142.2(SCN2A):c.387-10G>A rs2304015
NM_001040142.2(SCN2A):c.4287T>C (p.Tyr1429=) rs150209984
NM_001040142.2(SCN2A):c.5229A>G (p.Lys1743=) rs2227898
NM_001040142.2(SCN2A):c.5397T>C (p.Tyr1799=) rs200603552
NM_001040142.2(SCN2A):c.5446G>T (p.Ala1816Ser) rs147084515
NM_001040142.2(SCN2A):c.70G>A (p.Ala24Thr) rs527452801
NM_001040142.2(SCN2A):c.897A>G (p.Ser299=) rs143765389
NM_001042472.3(ABHD12):c.1041C>T (p.Ile347=) rs188888939
NM_001042472.3(ABHD12):c.1045G>A (p.Ala349Thr) rs746748
NM_001042472.3(ABHD12):c.1113G>A (p.Arg371=) rs146028040
NM_001042472.3(ABHD12):c.788-10_788-7del rs565270893
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=) rs17886566
NM_001042492.3(NF1):c.7321+19_7321+22del rs528866152
NM_001042517.2(DIAPH3):c.2317T>C (p.Phe773Leu) rs35579086
NM_001042537.1(SLC9A6):c.*5_*8delinsTT rs797044655
NM_001048166.1(STIL):c.1136C>T (p.Ser379Phe) rs149185431
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214
NM_001048166.1(STIL):c.257C>T (p.Ala86Val) rs3125630
NM_001048166.1(STIL):c.3378A>G (p.Arg1126=) rs142315727
NM_001048166.1(STIL):c.3430G>A (p.Asp1144Asn) rs112563569
NM_001077365.2(POMT1):c.1125C>T (p.His375=) rs35242383
NM_001077365.2(POMT1):c.1149C>T (p.His383=) rs202121299
NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=) rs62636653
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576
NM_001077365.2(POMT1):c.1698+10C>A rs184131819
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269
NM_001077365.2(POMT1):c.1932C>T (p.Tyr644=) rs146512619
NM_001077365.2(POMT1):c.1939G>A (p.Ala647Thr) rs119462987
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=) rs140553130
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val) rs138171526
NM_001077365.2(POMT1):c.2115G>A (p.Ser705=) rs76092524
NM_001077365.2(POMT1):c.2168G>A (p.Arg723Gln) rs144051476
NM_001077365.2(POMT1):c.2178G>A (p.Ter726=) rs147143094
NM_001077365.2(POMT1):c.699+52C>T rs3887873
NM_001077365.2(POMT1):c.78G>A (p.Gly26=) rs149554732
NM_001077365.2(POMT1):c.891G>A (p.Leu297=) rs76109289
NM_001077365.2(POMT1):c.986+9A>G rs202095070
NM_001079802.2(FKTN):c.1026C>A (p.Leu342=) rs17309806
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301
NM_001079802.2(FKTN):c.166C>T (p.Arg56Cys) rs41277797
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile) rs116105846
NM_001080414.4(CCDC88C):c.1878G>C (p.Lys626Asn) rs78468999
NM_001080414.4(CCDC88C):c.3202G>T (p.Ala1068Ser) rs201044013
NM_001080414.4(CCDC88C):c.3900C>T (p.Phe1300=) rs199536020
NM_001080414.4(CCDC88C):c.4265C>T (p.Ser1422Leu) rs202217944
NM_001080414.4(CCDC88C):c.4433T>C (p.Val1478Ala) rs201222692
NM_001080414.4(CCDC88C):c.4668G>A (p.Leu1556=) rs139544500
NM_001080414.4(CCDC88C):c.4707G>A (p.Arg1569=) rs145210051
NM_001080414.4(CCDC88C):c.4889G>A (p.Arg1630His) rs115510695
NM_001080414.4(CCDC88C):c.5087T>C (p.Leu1696Pro) rs77154172
NM_001080414.4(CCDC88C):c.5951G>A (p.Arg1984Gln) rs61745465
NM_001080414.4(CCDC88C):c.766C>T (p.Leu256=) rs183742506
NM_001080476.2(GRXCR1):c.272G>T (p.Gly91Val) rs113203706
NM_001080522.2(CC2D2A):c.2161C>T (p.Pro721Ser) rs199768782
NM_001080522.2(CC2D2A):c.3183-8T>C rs13121363
NM_001083961.2(WDR62):c.2334-6C>A rs138928852
NM_001083961.2(WDR62):c.2975C>T (p.Ser992Leu) rs74518295
NM_001083961.2(WDR62):c.3033G>A (p.Pro1011=) rs118175551
NM_001083961.2(WDR62):c.3087C>T (p.Cys1029=) rs141344823
NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val) rs111294536
NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu) rs35811023
NM_001083961.2(WDR62):c.866A>G (p.Lys289Arg) rs12327568
NM_001083962.2(TCF4):c.1419G>C (p.Pro473=) rs143944746
NM_001083962.2(TCF4):c.1577C>T (p.Thr526Met) rs202025804
NM_001083962.2(TCF4):c.1905G>A (p.Ala635=) rs151150677
NM_001083962.2(TCF4):c.1923G>A (p.Glu641=) rs76956936
NM_001083962.2(TCF4):c.790-9T>C rs373434281
NM_001083962.2(TCF4):c.966T>C (p.Asp322=) rs142998298
NM_001097577.3(ANG):c.61C>T (p.Pro21Ser) rs149672657
NM_001099922.3(ALG13):c.2013G>A (p.Pro671=) rs775697727
NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del) rs772766102
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro) rs142841538
NM_001099922.3(ALG13):c.3143C>G (p.Ala1048Gly) rs773401427
NM_001099922.3(ALG13):c.751-8_751-6del rs765948340
NM_001101.5(ACTB):c.1044G>A (p.Ser348=) rs13447409
NM_001101362.2(KBTBD13):c.1077A>G (p.Gly359=) rs199526404
NM_001101362.2(KBTBD13):c.1197C>T (p.Arg399=) rs150830358
NM_001101362.2(KBTBD13):c.794G>A (p.Gly265Asp) rs146917406
NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys) rs185594460
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=) rs181099904
NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser) rs141625803
NM_001101426.4(CRPPA):c.32C>G (p.Pro11Arg) rs192925278
NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val) rs61734789
NM_001101426.4(CRPPA):c.67G>T (p.Gly23Cys) rs187484645
NM_001101426.4(CRPPA):c.685-25GTT[6] rs142647500
NM_001101426.4(CRPPA):c.836-9del rs3839757
NM_001101426.4(CRPPA):c.933+3A>G rs377582530
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=) rs200278701
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788
NM_001110556.2(FLNA):c.2613C>T (p.Asp871=) rs188212919
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met) rs398123617
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110556.2(FLNA):c.4475-4C>T rs199652065
NM_001110556.2(FLNA):c.4599-1G>A rs1057518223
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309
NM_001110556.2(FLNA):c.663C>T (p.Pro221=) rs2073470
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895
NM_001110556.2(FLNA):c.7450C>T (p.Arg2484Cys) rs782557713
NM_001110792.2(MECP2):c.1162C>T (p.Pro388Ser) rs61752387
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439
NM_001110792.2(MECP2):c.1371G>A (p.Thr457=) rs3027927
NM_001110792.2(MECP2):c.1458T>C (p.Pro486=) rs1557134910
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.789C>T (p.Pro263=) rs63582063
NM_001110792.2(MECP2):c.813C>T (p.Ala271=) rs1042870
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met) rs61751445
NM_001111125.3(IQSEC2):c.1641G>A (p.Ala547=) rs61745228
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys) rs782697291
NM_001111125.3(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_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352
NM_001126108.2(SLC12A3):c.1539C>T (p.Tyr513=) rs146805986
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His) rs121909380
NM_001126108.2(SLC12A3):c.2083G>A (p.Gly695Arg) rs36031476
NM_001126108.2(SLC12A3):c.2186G>T (p.Gly729Val)
NM_001126108.2(SLC12A3):c.791= (p.Ala264=)
NM_001126108.2(SLC12A3):c.938C>T (p.Ala313Val) rs140551719
NM_001126121.2(SLC25A19):c.339T>C (p.Tyr113=) rs7213318
NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=) rs4789164
NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_001126131.2(POLG):c.158_159delinsCT (p.Gln53Pro) rs1064795981
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.2890C>T (p.Arg964Cys) rs201477273
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln) rs561858384
NM_001127222.2(CACNA1A):c.1368C>T (p.Ser456=) rs377458008
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=) rs374307014
NM_001127222.2(CACNA1A):c.1499C>T (p.Thr500Met) rs121908240
NM_001127222.2(CACNA1A):c.1500_1521del (p.Leu501fs) rs1555762855
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=) rs182505786
NM_001127222.2(CACNA1A):c.1668+7G>A rs567507041
NM_001127222.2(CACNA1A):c.1782-6C>T rs201350764
NM_001127222.2(CACNA1A):c.1914-4G>A rs191026552
NM_001127222.2(CACNA1A):c.1983T>C (p.Phe661=) rs368033271
NM_001127222.2(CACNA1A):c.1995G>A (p.Thr665=) rs376641545
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs) rs1064794262
NM_001127222.2(CACNA1A):c.2091G>A (p.Thr697=) rs16016
NM_001127222.2(CACNA1A):c.2678G>A (p.Arg893Gln) rs374664760
NM_001127222.2(CACNA1A):c.2737C>T (p.Pro913Ser) rs16020
NM_001127222.2(CACNA1A):c.2737_2739delinsTCT (p.Pro913Ser) rs886043758
NM_001127222.2(CACNA1A):c.2739C>T (p.Pro913=) rs16021
NM_001127222.2(CACNA1A):c.2867G>T (p.Arg956Leu) rs551380805
NM_001127222.2(CACNA1A):c.2955G>C (p.Pro985=) rs749357610
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4]) rs764399373
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023
NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala) rs28413664
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=) rs16025
NM_001127222.2(CACNA1A):c.3237C>T (p.Ala1079=) rs16026
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=) rs374749004
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027
NM_001127222.2(CACNA1A):c.3384G>A (p.Pro1128=) rs370541345
NM_001127222.2(CACNA1A):c.3409C>G (p.Pro1137Ala) rs199793367
NM_001127222.2(CACNA1A):c.3421G>A (p.Glu1141Lys) rs780535727
NM_001127222.2(CACNA1A):c.3531C>A (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.3822C>T (p.Asn1274=) rs201230929
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=) rs16030
NM_001127222.2(CACNA1A):c.4072C>T (p.Arg1358Trp) rs1555745461
NM_001127222.2(CACNA1A):c.4089+5_4089+6del rs368911651
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=) rs201200430
NM_001127222.2(CACNA1A):c.4311G>A (p.Lys1437=) rs572036869
NM_001127222.2(CACNA1A):c.4591-9C>G rs16032
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=) rs150378053
NM_001127222.2(CACNA1A):c.4644G>A (p.Pro1548=) rs199854716
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001127222.2(CACNA1A):c.4997G>A (p.Arg1666Gln) rs1568447650
NM_001127222.2(CACNA1A):c.5268T>C (p.Ala1756=) rs373678557
NM_001127222.2(CACNA1A):c.5508C>T (p.Ala1836=) rs750338421
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln) rs199886234
NM_001127222.2(CACNA1A):c.6067G>A (p.Gly2023Ser) rs574805525
NM_001127222.2(CACNA1A):c.6265C>A (p.Arg2089=) rs200093958
NM_001127222.2(CACNA1A):c.6339+10G>C rs376238265
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=) rs16049
NM_001127222.2(CACNA1A):c.6378C>T (p.Ser2126=) rs16050
NM_001127222.2(CACNA1A):c.6468C>T (p.Arg2156=) rs745336852
NM_001127222.2(CACNA1A):c.6483C>T (p.Arg2161=) rs745609731
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys) rs375354077
NM_001127222.2(CACNA1A):c.654G>C (p.Ser218=) rs201991581
NM_001127222.2(CACNA1A):c.699A>G (p.Leu233=) rs749587119
NM_001127222.2(CACNA1A):c.7189G>A (p.Val2397Met) rs768129470
NM_001127222.2(CACNA1A):c.784+10C>T rs781363787
NM_001127222.2(CACNA1A):c.888C>T (p.Asn296=) rs372812865
NM_001127644.2(GABRA1):c.1323G>A (p.Thr441=) rs138259457
NM_001127644.2(GABRA1):c.96A>G (p.Gln32=) rs76224028
NM_001127713.1(ATL1):c.1173C>T (p.His391=) rs149340140
NM_001127713.1(ATL1):c.351G>A (p.Glu117=) rs1060197
NM_001127713.1(ATL1):c.669C>T (p.Tyr223=) rs146975855
NM_001127713.1(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_001128840.3(CACNA1D):c.3279G>A (p.Ala1093=) rs36061665
NM_001128840.3(CACNA1D):c.3892C>T (p.Pro1298Ser) rs72556360
NM_001128840.3(CACNA1D):c.5767_5769del (p.Phe1923del) rs72556363
NM_001128840.3(CACNA1D):c.954G>A (p.Ala318=) rs147336902
NM_001130438.3(SPTAN1):c.1511C>T (p.Ala504Val) rs148727077
NM_001130438.3(SPTAN1):c.1737C>T (p.Phe579=) rs143941068
NM_001130438.3(SPTAN1):c.2599G>A (p.Glu867Lys) rs1339046005
NM_001130438.3(SPTAN1):c.3051G>A (p.Pro1017=) rs140279996
NM_001130438.3(SPTAN1):c.3580-5_3580-2del rs754528571
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425
NM_001130438.3(SPTAN1):c.3912C>T (p.Pro1304=) rs143844598
NM_001130438.3(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571
NM_001130438.3(SPTAN1):c.5460G>A (p.Ala1820=) rs140191388
NM_001130438.3(SPTAN1):c.5775C>T (p.Thr1925=) rs140353002
NM_001130438.3(SPTAN1):c.6111C>T (p.Gly2037=) rs139799727
NM_001130438.3(SPTAN1):c.6498C>A (p.Arg2166=) rs72758823
NM_001130438.3(SPTAN1):c.6660C>T (p.Asn2220=) rs112955915
NM_001130438.3(SPTAN1):c.7419G>A (p.Ser2473=) rs375649697
NM_001130987.2(DYSF):c.1033+4A>T rs1397221551
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356
NM_001130987.2(DYSF):c.1140C>T (p.Asp380=) rs373744398
NM_001130987.2(DYSF):c.1145C>T (p.Ala382Val) rs115279465
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) rs199955501
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu) rs150724610
NM_001130987.2(DYSF):c.1276+5G>A rs766433603
NM_001130987.2(DYSF):c.1380+6G>C rs75796187
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=) rs150093305
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val) rs141818764
NM_001130987.2(DYSF):c.1465G>A (p.Glu489Lys) rs61740288
NM_001130987.2(DYSF):c.1518C>T (p.Ile506=) rs34387018
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596
NM_001130987.2(DYSF):c.1931T>C (p.Met644Thr) rs141867897
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) rs139754493
NM_001130987.2(DYSF):c.205G>C (p.Val69Leu) rs114986640
NM_001130987.2(DYSF):c.225G>A (p.Thr75=) rs200957354
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355
NM_001130987.2(DYSF):c.2642A>C (p.Asp881Ala) rs35884879
NM_001130987.2(DYSF):c.2817G>A (p.Ser939=) rs148902254
NM_001130987.2(DYSF):c.2820C>T (p.Ala940=) rs373328706
NM_001130987.2(DYSF):c.3086-9C>T rs185350547
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys) rs756328339
NM_001130987.2(DYSF):c.3337C>T (p.Arg1113Cys) rs141536854
NM_001130987.2(DYSF):c.3341G>A (p.Arg1114His) rs59915619
NM_001130987.2(DYSF):c.3588C>T (p.Ile1196=) rs79899601
NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met) rs148858485
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=) rs139983909
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954
NM_001130987.2(DYSF):c.3968C>A (p.Thr1323Lys) rs116426399
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128
NM_001130987.2(DYSF):c.4027A>G (p.Ile1343Val) rs145401010
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys) rs758993965
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg) rs138268837
NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=) rs142769942
NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=) rs76576806
NM_001130987.2(DYSF):c.4428C>T (p.Ile1476=) rs145690047
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=) rs142483266
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) rs185596534
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile) rs147056383
NM_001130987.2(DYSF):c.5058C>A (p.Leu1686=) rs141476432
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp) rs863225021
NM_001130987.2(DYSF):c.5478C>T (p.Val1826=) rs145143725
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp) rs139879284
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys) rs786205084
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn) rs115013641
NM_001130987.2(DYSF):c.6174-9C>T rs201070766
NM_001130987.2(DYSF):c.6180C>T (p.Pro2060=) rs147263499
NM_001134407.3(GRIN2A):c.1329-8C>T rs7193290
NM_001134407.3(GRIN2A):c.1354G>A (p.Val452Met) rs145956175
NM_001134407.3(GRIN2A):c.306C>T (p.Asp102=) rs200850130
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086
NM_001134407.3(GRIN2A):c.3898A>G (p.Arg1300Gly) rs372353067
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His) rs35433555
NM_001135022.2(ELMOD3):c.549C>T (p.Thr183=) rs115378987
NM_001136473.1(LITAF):c.27G>A (p.Ala9=) rs149518815
NM_001142279.2(RNASEH2B):c.455A>G (p.Asn152Ser) rs146451037
NM_001142301.1(TMEM67):c.823-3C>T rs3097427
NM_001142771.2(PCDH15):c.4686G>A (p.Thr1562=) rs148772706
NM_001145026.2(PTPRQ):c.1285C>G (p.Gln429Glu) rs61729287
NM_001145308.4(LRTOMT):c.623G>A (p.Arg208Gln) rs61741195
NM_001145308.4(LRTOMT):c.69G>C (p.Leu23=) rs12272086
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280
NM_001145809.2(MYH14):c.192G>T (p.Gly64=) rs181055215
NM_001145809.2(MYH14):c.1944C>T (p.Asp648=) rs189243324
NM_001146079.2(CLDN14):c.300C>T (p.Ile100=) rs113350364
NM_001146261.2(SYT14):c.1203A>G (p.Glu401=) rs376509952
NM_001151.4(SLC25A4):c.490A>G (p.Ile164Val) rs143511445
NM_001151.4(SLC25A4):c.567T>C (p.Ala189=) rs149101873
NM_001159699.2(FHL1):c.204+5C>T rs182106777
NM_001159699.2(FHL1):c.489C>T (p.Asp163=) rs149670651
NM_001159699.2(FHL1):c.737-3del rs368428875
NM_001160301.1(DPYD):c.451A>G (p.Asn151Asp) rs200562975
NM_001161352.2(KCNMA1):c.117CTC[5] (p.Ser59_Ser60del) rs572827902
NM_001161352.2(KCNMA1):c.117CTC[8] (p.Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=) rs45617636
NM_001161352.2(KCNMA1):c.144TTC[3] (p.Ser60del) rs751901610
NM_001161352.2(KCNMA1):c.2015+7G>A rs78670694
NM_001161352.2(KCNMA1):c.2398G>T (p.Asp800Tyr) rs142210216
NM_001161352.2(KCNMA1):c.2526C>T (p.Val842=) rs41274568
NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del) rs1484259264
NM_001161352.2(KCNMA1):c.36CGG[8] (p.Gly20dup) rs760628050
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=) rs1131824
NM_001161352.2(KCNMA1):c.90C>T (p.His30=) rs75040504
NM_001164617.2(GPC3):c.1236-8T>C rs182950534
NM_001164617.2(GPC3):c.1354G>A (p.Val452Met) rs11539789
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=) rs114137271
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln) rs544692790
NM_001165963.4(SCN1A):c.1790C>A (p.Thr597Asn) rs149715258
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) rs121918769
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=) rs6432860
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln) rs121918785
NM_001165963.4(SCN1A):c.3039A>G (p.Gln1013=) rs780391343
NM_001165963.4(SCN1A):c.4557G>A (p.Pro1519=) rs368785509
NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His) rs368834365
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His) rs575368466
NM_001165963.4(SCN1A):c.4945C>T (p.Leu1649=) rs148546224
NM_001165963.4(SCN1A):c.5286A>G (p.Gly1762=) rs150570058
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu) rs201905405
NM_001166114.2(PNPLA6):c.1207G>C (p.Ala403Pro) rs17854645
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu) rs145191932
NM_001166114.2(PNPLA6):c.173T>C (p.Val58Ala) rs188353745
NM_001166114.2(PNPLA6):c.183G>A (p.Val61=) rs35732838
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met) rs145988230
NM_001166114.2(PNPLA6):c.2385C>T (p.His795=) rs143914980
NM_001166114.2(PNPLA6):c.3495C>T (p.Ser1165=) rs138837774
NM_001166114.2(PNPLA6):c.4060C>T (p.Leu1354=) rs150392453
NM_001166114.2(PNPLA6):c.4078G>A (p.Gly1360Ser) rs145178162
NM_001168272.1(ITPR1):c.4428C>T (p.Ile1476=) rs192863290
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265
NM_001174089.2(SLC4A11):c.893C>T (p.Ala298Val) rs141705330
NM_001182.5(ALDH7A1):c.1263G>A (p.Ala421=) rs587780850
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684
NM_001182.5(ALDH7A1):c.39A>G (p.Ala13=) rs201566142
NM_001182.5(ALDH7A1):c.858G>A (p.Val286=) rs150623275
NM_001184880.2(PCDH19):c.1353G>A (p.Pro451=) rs373795773
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=) rs200471732
NM_001184880.2(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001184880.2(PCDH19):c.697G>T (p.Asp233Tyr) rs1555985482
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027
NM_001190716.2(DNM2):c.1072G>A (p.Gly358Arg) rs267606772
NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=) rs374780430
NM_001191061.2(SLC25A22):c.500G>A (p.Arg167Gln) rs201089795
NM_001191061.2(SLC25A22):c.570C>T (p.Leu190=) rs145322467
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=) rs147840220
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) rs146300431
NM_001193466.2(KANSL1):c.1652C>T (p.Thr551Ile) rs778178483
NM_001193466.2(KANSL1):c.1826G>A (p.Ser609Asn) rs138698439
NM_001193466.2(KANSL1):c.3170A>G (p.Gln1057Arg) rs201083879
NM_001193466.2(KANSL1):c.680G>A (p.Ser227Asn) rs150345690
NM_001193466.2(KANSL1):c.727C>A (p.Gln243Lys) rs142096969
NM_001193466.2(KANSL1):c.773T>C (p.Leu258Ser) rs145714368
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys) rs144076460
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324
NM_001195248.2(APTX):c.484-25_484-5del rs200922655
NM_001195248.2(APTX):c.513G>A (p.Leu171=) rs140888559
NM_001195248.2(APTX):c.596G>A (p.Arg199His) rs150886026
NM_001195248.2(APTX):c.742T>A (p.Leu248Met) rs141195622
NM_001195248.2(APTX):c.762G>A (p.Pro254=) rs571475924
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu) rs141493373
NM_001195263.2(PDZD7):c.1613G>A (p.Gly538Glu) rs112571971
NM_001195263.2(PDZD7):c.2144C>T (p.Pro715Leu) rs143414291
NM_001195263.2(PDZD7):c.2319_2336del (p.773_774RS[3]) rs397516634
NM_001195263.2(PDZD7):c.572T>A (p.Val191Glu) rs118098246
NM_001195263.2(PDZD7):c.971G>A (p.Ser324Asn) rs200592310
NM_001195553.2(DCX):c.948A>C (p.Ala316=) rs770799939
NM_001199107.2(TBC1D24):c.-7C>T rs199852092
NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met) rs61731477
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) rs201059992
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met) rs201649140
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=) rs149371169
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356
NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu) rs201060500
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728
NM_001199799.2(ILDR1):c.726G>A (p.Ala242=) rs114464909
NM_001242897.2(DEPDC5):c.1389C>T (p.Asp463=) rs188147862
NM_001242897.2(DEPDC5):c.161A>C (p.Gln54Pro) rs201312113
NM_001242897.2(DEPDC5):c.262A>G (p.Asn88Asp) rs144712084
NM_001242897.2(DEPDC5):c.2851A>G (p.Thr951Ala) rs537257402
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=) rs41311573
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) rs35829419
NM_001244008.2(KIF1A):c.2721GGA[12] (p.Glu917dup) rs10594016
NM_001244710.1(GFPT1):c.147T>C (p.Asp49=) rs2230300
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519
NM_001256317.3(TMPRSS3):c.1306G>A (p.Val436Ile) rs114904237
NM_001256545.2(MEGF10):c.1002C>T (p.His334=) rs142947482
NM_001256545.2(MEGF10):c.3026-8C>T rs185480820
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln) rs55742743
NM_001267550.2(TTN):c.100096G>A (p.Val33366Ile) rs55675869
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001267550.2(TTN):c.1002C>T (p.Thr334=) rs148094198
NM_001267550.2(TTN):c.100459C>T (p.Pro33487Ser) rs72629779
NM_001267550.2(TTN):c.10104T>G (p.Val3368=) rs142460433
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=) rs368168812
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463
NM_001267550.2(TTN):c.101245G>A (p.Val33749Met) rs201554140
NM_001267550.2(TTN):c.101291C>T (p.Ala33764Val) rs773542514
NM_001267550.2(TTN):c.101406C>G (p.Val33802=) rs55802460
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His) rs55886356
NM_001267550.2(TTN):c.101803A>G (p.Ile33935Val) rs56376197
NM_001267550.2(TTN):c.101890C>A (p.Arg33964Ser) rs779064623
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His) rs55669553
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn) rs144963736
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val) rs56347248
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val) rs56173891
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln) rs148525155
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met) rs192001910
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys) rs72629785
NM_001267550.2(TTN):c.103412G>A (p.Arg34471Gln) rs149391616
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala) rs55945684
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His) rs3829747
NM_001267550.2(TTN):c.10378C>G (p.Pro3460Ala) rs201735487
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=) rs199714102
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro) rs185683410
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu) rs72629787
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln) rs115150240
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005
NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys) rs200378865
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp) rs56308529
NM_001267550.2(TTN):c.105228G>A (p.Ser35076=) rs55938627
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=) rs55806007
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met) rs55865284
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys) rs56324595
NM_001267550.2(TTN):c.105787_105788delinsTT (p.Ala35263Phe) rs794729250
NM_001267550.2(TTN):c.106375-2A>G rs1553482872
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=) rs55838839
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr) rs55880440
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) rs199632397
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=) rs116604145
NM_001267550.2(TTN):c.1068G>A (p.Glu356=) rs144716589
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln) rs200497615
NM_001267550.2(TTN):c.107230A>G (p.Ile35744Val) rs142336788
NM_001267550.2(TTN):c.107377+1G>A rs112188483
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=) rs371480338
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793
NM_001267550.2(TTN):c.107688G>A (p.Pro35896=) rs542575761
NM_001267550.2(TTN):c.107700A>G (p.Glu35900=) rs55832587
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr) rs56128843
NM_001267550.2(TTN):c.11254+2T>C rs199565715
NM_001267550.2(TTN):c.11370A>G (p.Gln3790=) rs72648918
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547
NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys) rs186624523
NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser) rs201888760
NM_001267550.2(TTN):c.12195T>C (p.Leu4065=) rs201129413
NM_001267550.2(TTN):c.12733A>C (p.Asn4245His) rs199652066
NM_001267550.2(TTN):c.12955G>A (p.Ala4319Thr) rs150137596
NM_001267550.2(TTN):c.12986G>A (p.Arg4329Lys) rs199560188
NM_001267550.2(TTN):c.13194A>G (p.Gln4398=) rs375347596
NM_001267550.2(TTN):c.13202G>A (p.Arg4401Gln) rs200431386
NM_001267550.2(TTN):c.13287T>C (p.Ala4429=) rs370604524
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr) rs142414432
NM_001267550.2(TTN):c.13859G>A (p.Gly4620Asp) rs55857742
NM_001267550.2(TTN):c.14049C>T (p.Ser4683=) rs370208081
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys) rs2742347
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=) rs184307461
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn) rs184740744
NM_001267550.2(TTN):c.14784C>A (p.Leu4928=) rs373875040
NM_001267550.2(TTN):c.14788C>A (p.Pro4930Thr) rs201744218
NM_001267550.2(TTN):c.14870C>G (p.Thr4957Ser) rs72648925
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile) rs72647851
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_001267550.2(TTN):c.15542G>C (p.Gly5181Ala) rs201185434
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro) rs72648930
NM_001267550.2(TTN):c.15584A>G (p.Glu5195Gly) rs72648931
NM_001267550.2(TTN):c.156C>T (p.Pro52=) rs72647842
NM_001267550.2(TTN):c.15906C>T (p.Val5302=) rs375179152
NM_001267550.2(TTN):c.16055-9A>C rs368897883
NM_001267550.2(TTN):c.16056T>C (p.Asp5352=) rs376820575
NM_001267550.2(TTN):c.16422A>G (p.Gln5474=) rs371026448
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys) rs72648939
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr) rs72648940
NM_001267550.2(TTN):c.16621+7A>T rs10200398
NM_001267550.2(TTN):c.16716A>G (p.Pro5572=) rs367821526
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942
NM_001267550.2(TTN):c.17300G>A (p.Ser5767Asn) rs200692495
NM_001267550.2(TTN):c.177C>T (p.Ser59=) rs191057824
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr) rs35683768
NM_001267550.2(TTN):c.17910T>C (p.His5970=) rs1175537809
NM_001267550.2(TTN):c.1815T>C (p.Thr605=) rs757604614
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu) rs73973139
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly) rs370812788
NM_001267550.2(TTN):c.18531G>C (p.Val6177=) rs370684491
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser) rs184412722
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr) rs188878341
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953
NM_001267550.2(TTN):c.19204A>G (p.Met6402Val) rs72648954
NM_001267550.2(TTN):c.19301G>A (p.Ser6434Asn) rs11888217
NM_001267550.2(TTN):c.19818A>G (p.Lys6606=) rs397517492
NM_001267550.2(TTN):c.19976C>T (p.Thr6659Met) rs16866475
NM_001267550.2(TTN):c.20025C>A (p.Ala6675=) rs373842558
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met) rs146627500
NM_001267550.2(TTN):c.20236G>A (p.Ala6746Thr) rs202108224
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys) rs149470241
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958
NM_001267550.2(TTN):c.20630T>C (p.Ile6877Thr) rs142794598
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala) rs200118743
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg) rs200594798
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe) rs114626713
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val) rs72648960
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn) rs72648962
NM_001267550.2(TTN):c.21197A>G (p.Lys7066Arg) rs553548392
NM_001267550.2(TTN):c.21276C>T (p.Thr7092=) rs372264428
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr) rs201394117
NM_001267550.2(TTN):c.21404-4A>G rs72648965
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr) rs189951108
NM_001267550.2(TTN):c.21642C>T (p.Asn7214=) rs752620885
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His) rs138853909
NM_001267550.2(TTN):c.21800G>A (p.Gly7267Asp) rs375627540
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=) rs34562585
NM_001267550.2(TTN):c.22077A>T (p.Gly7359=) rs202102237
NM_001267550.2(TTN):c.22080T>C (p.Asp7360=) rs16866473
NM_001267550.2(TTN):c.22384G>C (p.Asp7462His) rs12693166
NM_001267550.2(TTN):c.22692A>T (p.Thr7564=) rs187182557
NM_001267550.2(TTN):c.22922C>T (p.Ser7641Leu) rs369508943
NM_001267550.2(TTN):c.23001G>A (p.Thr7667=) rs16866467
NM_001267550.2(TTN):c.23023G>T (p.Asp7675Tyr) rs552951988
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=) rs72648971
NM_001267550.2(TTN):c.23378-10C>A rs72648975
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu) rs149523263
NM_001267550.2(TTN):c.23925C>T (p.Ser7975=) rs374879942
NM_001267550.2(TTN):c.24160A>T (p.Ile8054Leu) rs72648976
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala) rs16866465
NM_001267550.2(TTN):c.24905C>A (p.Thr8302Lys) rs549604128
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=) rs72648983
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu) rs72648984
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu) rs2627043
NM_001267550.2(TTN):c.25087G>T (p.Ala8363Ser) rs200972189
NM_001267550.2(TTN):c.25209T>C (p.Asp8403=) rs569860898
NM_001267550.2(TTN):c.25223C>T (p.Thr8408Ile) rs201432372
NM_001267550.2(TTN):c.25274G>A (p.Ser8425Asn) rs13390491
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His) rs149855485
NM_001267550.2(TTN):c.25758C>T (p.Asp8586=) rs372802604
NM_001267550.2(TTN):c.26245G>A (p.Val8749Ile) rs16866457
NM_001267550.2(TTN):c.26329G>A (p.Val8777Ile) rs376823283
NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser) rs12693164
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=) rs200088963
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) rs140003804
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val) rs72648989
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met) rs72648990
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser) rs146057575
NM_001267550.2(TTN):c.26694G>T (p.Gly8898=) rs199525540
NM_001267550.2(TTN):c.26818G>A (p.Gly8940Ser) rs201005813
NM_001267550.2(TTN):c.27702T>C (p.Ile9234=) rs143368674
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile) rs144930507
NM_001267550.2(TTN):c.28313G>A (p.Arg9438Gln) rs72648998
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile) rs202160275
NM_001267550.2(TTN):c.28970C>T (p.Ser9657Leu) rs200049911
NM_001267550.2(TTN):c.289G>A (p.Val97Met) rs185921345
NM_001267550.2(TTN):c.29079G>A (p.Ala9693=) rs372997298
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile) rs72649002
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=) rs72650003
NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter) rs746721983
NM_001267550.2(TTN):c.2949C>T (p.Ile983=) rs56310516
NM_001267550.2(TTN):c.3010G>A (p.Glu1004Lys) rs200902055
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys) rs73038324
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met) rs72647868
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile) rs72650019
NM_001267550.2(TTN):c.31564A>G (p.Ile10522Val) rs2042995
NM_001267550.2(TTN):c.31762+5_31762+7del rs397517538
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala) rs200213832
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg) rs2244492
NM_001267550.2(TTN):c.32049A>G (p.Lys10683=) rs375408527
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met) rs115119858
NM_001267550.2(TTN):c.32254G>A (p.Val10752Ile) rs72650028
NM_001267550.2(TTN):c.32555-6T>C rs375742678
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser) rs201738153
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys) rs116676813
NM_001267550.2(TTN):c.32743G>C (p.Ala10915Pro) rs72650032
NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln) rs367720439
NM_001267550.2(TTN):c.32807-10T>A rs138192315
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln) rs72650034
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476
NM_001267550.2(TTN):c.33287G>A (p.Arg11096His) rs36051007
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup) rs368327166
NM_001267550.2(TTN):c.33742+8C>T rs375939001
NM_001267550.2(TTN):c.33856G>A (p.Glu11286Lys) rs376874956
NM_001267550.2(TTN):c.34474C>A (p.Pro11492Thr) rs182428755
NM_001267550.2(TTN):c.34505G>T (p.Gly11502Val) rs190209925
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp) rs140640738
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly) rs201167067
NM_001267550.2(TTN):c.34845C>T (p.Pro11615=) rs368781863
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile) rs202014478
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr) rs189966800
NM_001267550.2(TTN):c.36489G>A (p.Ala12163=) rs115493456
NM_001267550.2(TTN):c.36509A>T (p.Glu12170Val) rs200840285
NM_001267550.2(TTN):c.37722T>C (p.Val12574=) rs377422414
NM_001267550.2(TTN):c.38311A>G (p.Lys12771Glu) rs551811137
NM_001267550.2(TTN):c.38336T>C (p.Val12779Ala) rs2099130
NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu) rs374497665
NM_001267550.2(TTN):c.38708-4T>C rs200819643
NM_001267550.2(TTN):c.38929C>T (p.Pro12977Ser) rs150223722
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met) rs73038314
NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val) rs148140756
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg) rs72650066
NM_001267550.2(TTN):c.39709+6C>T rs72650067
NM_001267550.2(TTN):c.40408+8del rs727504922
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe) rs201944202
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu) rs587780488
NM_001267550.2(TTN):c.40634-9A>G rs373511249
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=) rs72650077
NM_001267550.2(TTN):c.41488G>A (p.Val13830Ile) rs149059189
NM_001267550.2(TTN):c.41596G>A (p.Val13866Ile) rs375474669
NM_001267550.2(TTN):c.4160T>C (p.Leu1387Pro) rs115303497
NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val) rs16866531
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=) rs186699871
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg) rs2288563
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299
NM_001267550.2(TTN):c.426C>T (p.Ala142=) rs56137037
NM_001267550.2(TTN):c.42840T>G (p.Asp14280Glu) rs760643071
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro) rs72647876
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) rs142317580
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln) rs373491468
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=) rs16866423
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys) rs12471771
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601
NM_001267550.2(TTN):c.44210G>A (p.Arg14737His) rs373298007
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485
NM_001267550.2(TTN):c.44323G>A (p.Val14775Met) rs540115992
NM_001267550.2(TTN):c.44423A>C (p.Lys14808Thr) rs374419129
NM_001267550.2(TTN):c.44548+9A>G rs372725070
NM_001267550.2(TTN):c.44784T>C (p.Asp14928=) rs186105748
NM_001267550.2(TTN):c.45053C>T (p.Ala15018Val) rs72677221
NM_001267550.2(TTN):c.45174C>T (p.Gly15058=) rs372609980
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr) rs144668626
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile) rs139192633
NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met) rs368057764
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile) rs201717871
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231
NM_001267550.2(TTN):c.47196G>C (p.Val15732=) rs369979598
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=) rs76081119
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met) rs73973147
NM_001267550.2(TTN):c.47400G>A (p.Lys15800=) rs114145817
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr) rs146181477
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe) rs138576504
NM_001267550.2(TTN):c.47766C>T (p.Thr15922=) rs757006832
NM_001267550.2(TTN):c.47955A>G (p.Pro15985=) rs192953152
NM_001267550.2(TTN):c.48161-4del rs730880371
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) rs200944827
NM_001267550.2(TTN):c.49406T>A (p.Leu16469His) rs72677245
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln) rs367566671
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr) rs55663050
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr) rs36043230
NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys) rs148018042
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val) rs750610895
NM_001267550.2(TTN):c.51273G>A (p.Arg17091=) rs532589236
NM_001267550.2(TTN):c.51678C>T (p.Asn17226=) rs372635204
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=) rs139789997
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys) rs199615557
NM_001267550.2(TTN):c.52656T>C (p.Pro17552=) rs371031259
NM_001267550.2(TTN):c.52890C>T (p.Thr17630=) rs374228930
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=) rs73036398
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val) rs886042743
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile) rs2303832
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809
NM_001267550.2(TTN):c.54068G>A (p.Arg18023Gln) rs727503603
NM_001267550.2(TTN):c.54140C>T (p.Ala18047Val) rs373815064
NM_001267550.2(TTN):c.5464A>C (p.Met1822Leu) rs201581947
NM_001267550.2(TTN):c.54740T>C (p.Met18247Thr) rs200585270
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) rs141213991
NM_001267550.2(TTN):c.54812-5A>G rs375343798
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=) rs190830121
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=) rs62178963
NM_001267550.2(TTN):c.55449C>T (p.Pro18483=) rs187366691
NM_001267550.2(TTN):c.55547T>C (p.Ile18516Thr) rs146608896
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg) rs72646823
NM_001267550.2(TTN):c.55929A>G (p.Gln18643=) rs151335428
NM_001267550.2(TTN):c.56101A>G (p.Asn18701Asp) rs1001238
NM_001267550.2(TTN):c.5668C>T (p.Arg1890Cys) rs146496197
NM_001267550.2(TTN):c.56942C>T (p.Ala18981Val) rs397517627
NM_001267550.2(TTN):c.56970T>C (p.Pro18990=) rs372019333
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr) rs200001206
NM_001267550.2(TTN):c.57683G>A (p.Arg19228His) rs114711705
NM_001267550.2(TTN):c.58191G>A (p.Thr19397=) rs370091658
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His) rs2288569
NM_001267550.2(TTN):c.58612A>G (p.Thr19538Ala) rs200017524
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=) rs2303836
NM_001267550.2(TTN):c.59315C>T (p.Pro19772Leu) rs72646840
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu) rs16866406
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile) rs369476725
NM_001267550.2(TTN):c.59835C>T (p.Asn19945=) rs72646842
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.60198G>A (p.Pro20066=) rs767152563
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met) rs77351975
NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu) rs72646843
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln) rs141973925
NM_001267550.2(TTN):c.61138C>A (p.Leu20380Met) rs201167216
NM_001267550.2(TTN):c.61825C>T (p.Arg20609Cys) rs786205389
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260
NM_001267550.2(TTN):c.62275G>A (p.Glu20759Lys) rs562680371
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=) rs72646848
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=) rs184863287
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=) rs375006117
NM_001267550.2(TTN):c.63026G>A (p.Arg21009Gln) rs72646851
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr) rs72646853
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr) rs56404770
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855
NM_001267550.2(TTN):c.63626G>A (p.Arg21209Gln) rs148684589
NM_001267550.2(TTN):c.63743T>C (p.Leu21248Pro) rs745323281
NM_001267550.2(TTN):c.63876C>T (p.Asn21292=) rs199598302
NM_001267550.2(TTN):c.63917G>A (p.Arg21306His) rs202240487
NM_001267550.2(TTN):c.63942G>A (p.Ser21314=) rs201285872
NM_001267550.2(TTN):c.63960T>A (p.Val21320=) rs397517655
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=) rs72646857
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile) rs2042996
NM_001267550.2(TTN):c.64720G>A (p.Ala21574Thr) rs578085621
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met) rs150661999
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu) rs13021201
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile) rs56130023
NM_001267550.2(TTN):c.65516C>T (p.Ala21839Val) rs55948748
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=) rs200825430
NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu) rs397517662
NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln) rs148849567
NM_001267550.2(TTN):c.66051G>A (p.Val22017=) rs587780981
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala) rs140842479
NM_001267550.2(TTN):c.66576C>A (p.Leu22192=) rs187378247
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys) rs72646869
NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn) rs72646870
NM_001267550.2(TTN):c.66692G>A (p.Arg22231His) rs200971254
NM_001267550.2(TTN):c.66977A>G (p.Lys22326Arg) rs202125813
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile) rs2303838
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873
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.68762C>T (p.Thr22921Ile) rs534567766
NM_001267550.2(TTN):c.687T>C (p.Phe229=) rs376527094
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys) rs199506676
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498
NM_001267550.2(TTN):c.69145A>G (p.Ile23049Val) rs72646881
NM_001267550.2(TTN):c.69231T>C (p.Leu23077=) rs12615797
NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln) rs370890454
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr) rs72646882
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) rs115658240
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu) rs372799151
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=) rs369503828
NM_001267550.2(TTN):c.70250T>C (p.Ile23417Thr) rs201836227
NM_001267550.2(TTN):c.70305G>A (p.Thr23435=) rs397517684
NM_001267550.2(TTN):c.70506G>T (p.Gly23502=) rs181702963
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys) rs145039979
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) rs55801134
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val) rs72646891
NM_001267550.2(TTN):c.70906C>T (p.Arg23636Cys) rs189208539
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His) rs56071233
NM_001267550.2(TTN):c.71036G>A (p.Arg23679Lys) rs200144345
NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp) rs540161344
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser) rs4894048
NM_001267550.2(TTN):c.71841G>C (p.Lys23947Asn) rs56019808
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His) rs200317412
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325
NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala) rs182491843
NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile) rs377334665
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=) rs189768015
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly) rs573415766
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del) rs543318580
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys) rs744426
NM_001267550.2(TTN):c.74891C>T (p.Pro24964Leu) rs72646899
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His) rs201512527
NM_001267550.2(TTN):c.75192T>C (p.Thr25064=) rs370480927
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) rs146970027
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=) rs56151652
NM_001267550.2(TTN):c.75682C>T (p.Pro25228Ser) rs377226540
NM_001267550.2(TTN):c.75738A>G (p.Glu25246=) rs371344165
NM_001267550.2(TTN):c.75762G>T (p.Val25254=) rs374003257
NM_001267550.2(TTN):c.76019T>A (p.Val25340Asp) rs200287703
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=) rs140350441
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His) rs3813245
NM_001267550.2(TTN):c.76922G>A (p.Arg25641His) rs369707906
NM_001267550.2(TTN):c.76987G>A (p.Asp25663Asn) rs143186270
NM_001267550.2(TTN):c.77043T>C (p.Tyr25681=) rs370810609
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.77279A>G (p.Asn25760Ser) rs3813246
NM_001267550.2(TTN):c.77515A>C (p.Lys25839Gln) rs1371831965
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala) rs56018860
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr) rs12463674
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg) rs72648205
NM_001267550.2(TTN):c.78906A>C (p.Glu26302Asp) rs534003014
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His) rs72648206
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr) rs3731745
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His) rs56044609
NM_001267550.2(TTN):c.79334G>A (p.Arg26445His) rs764254441
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His) rs56307213
NM_001267550.2(TTN):c.79862C>T (p.Thr26621Met) rs3731746
NM_001267550.2(TTN):c.79863G>A (p.Thr26621=) rs186402008
NM_001267550.2(TTN):c.80322C>T (p.Ala26774=) rs55892928
NM_001267550.2(TTN):c.8069C>T (p.Thr2690Ile) rs374620001
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met) rs377506142
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=) rs72648212
NM_001267550.2(TTN):c.81123G>A (p.Thr27041=) rs181299250
NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro) rs186273940
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala) rs200771189
NM_001267550.2(TTN):c.81938G>A (p.Gly27313Glu) rs199670463
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr) rs56365600
NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys) rs201489661
NM_001267550.2(TTN):c.82385C>A (p.Thr27462Lys) rs55933739
NM_001267550.2(TTN):c.82489G>A (p.Gly27497Arg) rs201158906
NM_001267550.2(TTN):c.82497C>T (p.Thr27499=) rs199629314
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys) rs56264840
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=) rs56345408
NM_001267550.2(TTN):c.82797C>T (p.Gly27599=) rs72648216
NM_001267550.2(TTN):c.82798G>A (p.Ala27600Thr) rs11896637
NM_001267550.2(TTN):c.83056G>A (p.Val27686Ile) rs56309296
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His) rs185002960
NM_001267550.2(TTN):c.83081G>A (p.Arg27694His) rs775499341
NM_001267550.2(TTN):c.83133G>A (p.Lys27711=) rs369223412
NM_001267550.2(TTN):c.83323A>G (p.Ile27775Val) rs3829746
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032
NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn) rs200450022
NM_001267550.2(TTN):c.84352C>T (p.Arg28118Cys) rs56057221
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=) rs73036373
NM_001267550.2(TTN):c.84461C>T (p.Pro28154Leu) rs200350579
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe) rs33917087
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys) rs192152102
NM_001267550.2(TTN):c.85248A>T (p.Thr28416=) rs187180708
NM_001267550.2(TTN):c.85691A>T (p.Lys28564Ile) rs199859344
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=) rs56310931
NM_001267550.2(TTN):c.86683G>A (p.Val28895Met) rs201290358
NM_001267550.2(TTN):c.87669T>C (p.His29223=) rs72648229
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile) rs141624266
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr) rs9808377
NM_001267550.2(TTN):c.88246G>T (p.Val29416Phe) rs755325663
NM_001267550.2(TTN):c.88297G>A (p.Asp29433Asn) rs189202799
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116
NM_001267550.2(TTN):c.88476C>G (p.Thr29492=) rs190406444
NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp) rs72648235
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys) rs200513274
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val) rs200193877
NM_001267550.2(TTN):c.8919C>G (p.Ser2973=) rs4894045
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) rs200503016
NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu) rs77853750
NM_001267550.2(TTN):c.8938G>A (p.Ala2980Thr) rs72647885
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln) rs72648238
NM_001267550.2(TTN):c.89760A>C (p.Glu29920Asp) rs747181293
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His) rs149567378
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly) rs150430592
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys) rs11887722
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=) rs193022702
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=) rs72647886
NM_001267550.2(TTN):c.91643C>T (p.Ala30548Val) rs553668520
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr) rs148617456
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser) rs144922355
NM_001267550.2(TTN):c.91937A>G (p.Asn30646Ser) rs72648245
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val) rs16866391
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.92537T>C (p.Val30846Ala) rs77968867
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile) rs200476500
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=) rs11694623
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) rs180975448
NM_001267550.2(TTN):c.93129C>T (p.Asp31043=) rs758336721
NM_001267550.2(TTN):c.93215G>A (p.Arg31072His) rs141817409
NM_001267550.2(TTN):c.9338G>A (p.Arg3113His) rs141258018
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=) rs200173934
NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile) rs67665715
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His) rs181104321
NM_001267550.2(TTN):c.9461A>G (p.Lys3154Arg) rs4893853
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=) rs376539252
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=) rs72648255
NM_001267550.2(TTN):c.94851T>A (p.Asp31617Glu) rs72648256
NM_001267550.2(TTN):c.9487C>T (p.Arg3163Cys) rs140664731
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn) rs116567963
NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly) rs72648257
NM_001267550.2(TTN):c.95205C>T (p.Asp31735=) rs373182578
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=) rs72648258
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe) rs191484894
NM_001267550.2(TTN):c.95553C>T (p.Ser31851=) rs72648260
NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro) rs62621206
NM_001267550.2(TTN):c.95582A>G (p.Tyr31861Cys) rs59148238
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr) rs72648263
NM_001267550.2(TTN):c.96108G>A (p.Val32036=) rs372773283
NM_001267550.2(TTN):c.96138A>T (p.Ile32046=) rs368154623
NM_001267550.2(TTN):c.96180T>C (p.Ile32060=) rs572401798
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile) rs56027402
NM_001267550.2(TTN):c.970C>T (p.Pro324Ser) rs72647845
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=) rs373206096
NM_001267550.2(TTN):c.97538G>A (p.Arg32513His) rs201080904
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His) rs3731749
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) rs72648272
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273
NM_001267550.2(TTN):c.982C>T (p.Arg328Cys) rs16866538
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703
NM_001267550.2(TTN):c.98431C>T (p.Arg32811Cys) rs371807358
NM_001267550.2(TTN):c.98439G>A (p.Val32813=) rs368487246
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser) rs367979582
NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr) rs78814506
NM_001267550.2(TTN):c.99415A>G (p.Lys33139Glu) rs779723670
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg) rs56061641
NM_001271.4(CHD2):c.1049A>T (p.Gln350Leu) rs200120256
NM_001271.4(CHD2):c.3126C>T (p.Asp1042=) rs150268140
NM_001271.4(CHD2):c.3321C>T (p.Asp1107=) rs141018126
NM_001271.4(CHD2):c.3573G>A (p.Gln1191=) rs79219767
NM_001271.4(CHD2):c.5049C>T (p.Ala1683=) rs139534358
NM_001271.4(CHD2):c.5106G>A (p.Gln1702=) rs781108294
NM_001271.4(CHD2):c.5120G>A (p.Arg1707Gln) rs61759469
NM_001271.4(CHD2):c.960A>T (p.Thr320=) rs149632554
NM_001271208.2(NEB):c.11729A>G (p.Asp3910Gly) rs35740585
NM_001271208.2(NEB):c.11769T>C (p.Ile3923=) rs80320923
NM_001271208.2(NEB):c.153_167dup (p.52_56LAQPA[3]) rs757726895
NM_001271208.2(NEB):c.1675-9T>G rs75118047
NM_001271208.2(NEB):c.16911A>G (p.Pro5637=) rs33988153
NM_001271208.2(NEB):c.177G>A (p.Gln59=) rs200990309
NM_001271208.2(NEB):c.18113A>G (p.Asn6038Ser) rs16830236
NM_001271208.2(NEB):c.18693G>C (p.Ala6231=) rs141338915
NM_001271208.2(NEB):c.19311C>T (p.Ser6437=) rs16830216
NM_001271208.2(NEB):c.19455G>A (p.Lys6485=) rs182847302
NM_001271208.2(NEB):c.1981C>T (p.Leu661=) rs146460133
NM_001271208.2(NEB):c.20128G>A (p.Val6710Ile) rs199890298
NM_001271208.2(NEB):c.21044C>G (p.Ser7015Cys) rs62167164
NM_001271208.2(NEB):c.21624C>T (p.Ser7208=) rs16830170
NM_001271208.2(NEB):c.21651C>T (p.Asn7217=) rs149510427
NM_001271208.2(NEB):c.21690A>G (p.Thr7230=) rs4664475
NM_001271208.2(NEB):c.21825C>T (p.Tyr7275=) rs34718443
NM_001271208.2(NEB):c.23372T>C (p.Met7791Thr) rs201767727
NM_001271208.2(NEB):c.23600C>T (p.Thr7867Ile) rs34368668
NM_001271208.2(NEB):c.24313-7C>T rs113048349
NM_001271208.2(NEB):c.24538G>C (p.Ala8180Pro) rs7575451
NM_001271208.2(NEB):c.25143A>G (p.Gln8381=) rs184319249
NM_001271208.2(NEB):c.2540A>G (p.Asp847Gly) rs375894183
NM_001271208.2(NEB):c.2640C>T (p.Arg880=) rs114959904
NM_001271208.2(NEB):c.3081A>T (p.Lys1027Asn) rs6735208
NM_001271208.2(NEB):c.3412A>G (p.Asn1138Asp) rs117048449
NM_001271208.2(NEB):c.3623T>C (p.Ile1208Thr) rs201141958
NM_001271208.2(NEB):c.3636C>T (p.Asp1212=) rs144376972
NM_001271208.2(NEB):c.3775-6T>C rs80232472
NM_001271208.2(NEB):c.4272G>C (p.Thr1424=) rs35654397
NM_001271208.2(NEB):c.4435G>A (p.Val1479Ile) rs34577613
NM_001271208.2(NEB):c.4471G>A (p.Val1491Met) rs7426114
NM_001271208.2(NEB):c.4980C>T (p.Pro1660=) rs142074817
NM_001271208.2(NEB):c.5102T>C (p.Val1701Ala) rs117271684
NM_001271208.2(NEB):c.5370G>A (p.Glu1790=) rs10170273
NM_001271208.2(NEB):c.5567G>A (p.Arg1856Gln) rs141930814
NM_001271208.2(NEB):c.571G>C (p.Glu191Gln) rs35686968
NM_001271208.2(NEB):c.5968G>A (p.Glu1990Lys) rs146310692
NM_001271208.2(NEB):c.612+8T>C rs113095802
NM_001271208.2(NEB):c.6807+6T>G rs10930723
NM_001271208.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976
NM_001271208.2(NEB):c.771T>C (p.Ala257=) rs4611637
NM_001271208.2(NEB):c.8189A>G (p.Asp2730Gly) rs76767949
NM_001271208.2(NEB):c.8318G>A (p.Arg2773Gln) rs35974308
NM_001271208.2(NEB):c.8335A>G (p.Ile2779Val) rs114853127
NM_001271208.2(NEB):c.8466C>T (p.His2822=) rs61730771
NM_001271208.2(NEB):c.8734T>C (p.Ser2912Pro) rs6713162
NM_001271208.2(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001277269.1(OTOG):c.1032+9C>A rs147843540
NM_001277269.1(OTOG):c.1078G>A (p.Ala360Thr) rs191354103
NM_001277269.1(OTOG):c.1833G>A (p.Arg611=) rs73418068
NM_001277269.1(OTOG):c.2134G>A (p.Ala712Thr) rs113745835
NM_001277269.1(OTOG):c.3132C>T (p.Asn1044=) rs75133799
NM_001277269.1(OTOG):c.328+10A>T rs141597314
NM_001277269.1(OTOG):c.3325-8C>G rs12792504
NM_001277269.1(OTOG):c.4274G>A (p.Arg1425Gln) rs143848095
NM_001277269.1(OTOG):c.5271C>A (p.Leu1757=) rs193083374
NM_001277269.1(OTOG):c.7861C>A (p.Gln2621Lys) rs61995750
NM_001277269.1(OTOG):c.8071C>T (p.Arg2691Cys) rs567966154
NM_001277269.1(OTOG):c.8578-8C>T rs182750732
NM_001277269.1(OTOG):c.8682G>A (p.Leu2894=) rs542151771
NM_001277269.2(OTOG):c.[3719C>T] rs117005078
NM_001277269.2(OTOG):c.[4642C>T] rs117380920
NM_001277269.2(OTOG):c.[6110C>T] rs61736002
NM_001277269.2(OTOG):c.[8526G>C] rs61997203
NM_001278064.2(GRM1):c.1433+10T>C rs373538200
NM_001278064.2(GRM1):c.2026G>A (p.Val676Met) rs752403373
NM_001278064.2(GRM1):c.2793G>A (p.Lys931=) rs2942
NM_001278064.2(GRM1):c.2859C>T (p.Thr953=) rs116471335
NM_001278064.2(GRM1):c.2922T>C (p.Pro974=) rs142409803
NM_001278064.2(GRM1):c.2977T>C (p.Ser993Pro) rs6923492
NM_001278064.2(GRM1):c.3161G>A (p.Gly1054Asp) rs145764886
NM_001278064.2(GRM1):c.3168T>G (p.Gly1056=) rs6923864
NM_001278064.2(GRM1):c.3206C>T (p.Pro1069Leu) rs79336287
NM_001278064.2(GRM1):c.3214C>G (p.Pro1072Ala) rs146753539
NM_001278064.2(GRM1):c.3495C>A (p.Pro1165=) rs9373491
NM_001278064.2(GRM1):c.444C>G (p.Pro148=) rs138794480
NM_001278064.2(GRM1):c.922G>A (p.Val308Ile) rs112915383
NM_001278116.2(L1CAM):c.3057T>G (p.Asp1019Glu) rs200815347
NM_001278116.2(L1CAM):c.3081G>A (p.Ala1027=) rs139393266
NM_001278116.2(L1CAM):c.396C>T (p.Ala132=) rs144708625
NM_001281463.1(SMC1A):c.2758C>T (p.Leu920=) rs139654605
NM_001286445.3(RIPOR2):c.114G>C (p.Ser38=) rs2295197
NM_001286445.3(RIPOR2):c.1764T>C (p.Asn588=) rs145837095
NM_001286445.3(RIPOR2):c.368C>A (p.Thr123Lys) rs145166802
NM_001286445.3(RIPOR2):c.715+8T>C rs35730227
NM_001287174.2(ABCC8):c.1630+10C>T rs188075767
NM_001287174.2(ABCC8):c.2117-3C>T rs1799854
NM_001287174.2(ABCC8):c.2823+17A>G rs2106865
NM_001287174.2(ABCC8):c.3561-7G>A rs900191703
NM_001287174.2(ABCC8):c.3870+7G>A rs372198547
NM_001287174.2(ABCC8):c.579+14C>T rs2301703
NM_001287174.2(ABCC8):c.822+20C>T rs181998151
NM_001292063.1(OTOG):c.499del (p.Val167fs) rs876657657
NM_001293298.2(CEMIP):c.1231C>G (p.Leu411Val) rs144349326
NM_001293298.2(CEMIP):c.3397G>A (p.Glu1133Lys) rs151273972
NM_001304481.1(FGD4):c.220C>A (p.Pro74Thr) rs199744649
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148
NM_001330078.2(NRXN1):c.1158+26A>T rs201802152
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser) rs78540316
NM_001330078.2(NRXN1):c.1575A>G (p.Arg525=) rs201941844
NM_001330078.2(NRXN1):c.1688T>C (p.Ile563Thr) rs201837579
NM_001330078.2(NRXN1):c.2122C>A (p.Leu708Ile) rs56086732
NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=) rs147984237
NM_001330078.2(NRXN1):c.2421C>T (p.Asn807=) rs115211871
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=) rs56402642
NM_001330078.2(NRXN1):c.3090A>C (p.Gly1030=) rs201886024
NM_001330078.2(NRXN1):c.3201C>T (p.Ser1067=) rs75275592
NM_001330078.2(NRXN1):c.3408G>A (p.Thr1136=) rs80094872
NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=) rs79970751
NM_001330078.2(NRXN1):c.4275G>T (p.Arg1425=) rs143495349
NM_001330078.2(NRXN1):c.501C>G (p.Leu167=) rs200248561
NM_001330078.2(NRXN1):c.772+1140G>A rs61658382
NM_001330078.2(NRXN1):c.900C>T (p.Pro300=) rs2303298
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=) rs187327463
NM_001330260.2(SCN8A):c.4122T>A (p.Thr1374=) rs115623439
NM_001330260.2(SCN8A):c.4509T>C (p.Pro1503=) rs303815
NM_001330260.2(SCN8A):c.4764C>T (p.Phe1588=) rs200728478
NM_001330260.2(SCN8A):c.5472C>A (p.Pro1824=) rs60637
NM_001330260.2(SCN8A):c.5601G>A (p.Gln1867=) rs368449473
NM_001330260.2(SCN8A):c.576C>T (p.Asp192=) rs4761829
NM_001330260.2(SCN8A):c.5943GAG[1] (p.Ter1981=) rs555793953
NM_001330260.2(SCN8A):c.928+9C>T rs148027656
NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro) rs55720916
NM_001347721.2(DYRK1A):c.489+9A>G rs187936450
NM_001354604.2(MITF):c.366C>T (p.His122=) rs140663277
NM_001354604.2(MITF):c.880+9C>G rs181810413
NM_001354663.2(OPA1):c.-260_-243del rs863224140
NM_001360.2(DHCR7):c.866C>T (p.Thr289Ile) rs121909765
NM_001365068.1(ASTN2):c.2806+26807G>A rs3747835
NM_001365068.1(ASTN2):c.2806+27336T>G rs368455215
NM_001365536.1(SCN9A):c.1119T>C (p.Ala373=) rs13414203
NM_001365536.1(SCN9A):c.1266A>G (p.Glu422=) rs13402180
NM_001365536.1(SCN9A):c.1287T>A (p.Arg429=) rs6747673
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=) rs201531206
NM_001365536.1(SCN9A):c.174G>A (p.Gln58=) rs6432901
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) rs121908919
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126
NM_001365536.1(SCN9A):c.2766C>T (p.Arg922=) rs199653503
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu) rs12478318
NM_001365536.1(SCN9A):c.2964C>T (p.Leu988=) rs201430964
NM_001365536.1(SCN9A):c.3004G>T (p.Val1002Leu) rs4369876
NM_001365536.1(SCN9A):c.3361C>T (p.Arg1121Trp) rs190664764
NM_001365536.1(SCN9A):c.3362G>A (p.Arg1121Gln) rs74401238
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327
NM_001365536.1(SCN9A):c.3802-4A>G rs75230218
NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile) rs149346064
NM_001365536.1(SCN9A):c.444A>G (p.Pro148=) rs9646771
NM_001365536.1(SCN9A):c.4645T>C (p.Trp1549Arg) rs202084411
NM_001365536.1(SCN9A):c.4812G>T (p.Val1604=) rs149207258
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His) rs73969684
NM_001365536.1(SCN9A):c.5779C>T (p.Leu1927Phe) rs111558968
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met) rs71428908
NM_001365999.1(SZT2):c.2631C>T (p.Thr877=) rs140831372
NM_001365999.1(SZT2):c.4701G>A (p.Leu1567=) rs111932993
NM_001365999.1(SZT2):c.4898C>T (p.Ser1633Leu) rs138762270
NM_001365999.1(SZT2):c.4983T>C (p.Asp1661=) rs139810154
NM_001365999.1(SZT2):c.5517C>T (p.Arg1839=) rs147753139
NM_001365999.1(SZT2):c.6543A>G (p.Leu2181=) rs112461557
NM_001365999.1(SZT2):c.6573C>T (p.Asp2191=) rs114046098
NM_001365999.1(SZT2):c.6977G>A (p.Arg2326Gln) rs146140125
NM_001365999.1(SZT2):c.7149C>T (p.Ala2383=) rs60480887
NM_001365999.1(SZT2):c.7562T>C (p.Val2521Ala) rs150113647
NM_001365999.1(SZT2):c.7573G>A (p.Val2525Ile) rs139486476
NM_001365999.1(SZT2):c.759G>A (p.Ser253=) rs1889586
NM_001367561.1(DOCK7):c.1047C>T (p.Val349=) rs139793443
NM_001367721.1(CASK):c.2040-9A>G rs138290714
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622
NM_001376.5(DYNC1H1):c.10293C>T (p.Asn3431=) rs75075497
NM_001376.5(DYNC1H1):c.10522C>A (p.Leu3508Ile) rs149496322
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=) rs141133453
NM_001376.5(DYNC1H1):c.11532G>A (p.Pro3844=) rs372511563
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889
NM_001376.5(DYNC1H1):c.12513+10T>G rs17512839
NM_001376.5(DYNC1H1):c.13219-9C>T rs17541650
NM_001376.5(DYNC1H1):c.2025T>C (p.Asn675=) rs140154194
NM_001376.5(DYNC1H1):c.256+4C>T rs546058194
NM_001376.5(DYNC1H1):c.2719-6C>T rs199763298
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=) rs114021657
NM_001376.5(DYNC1H1):c.2737G>A (p.Val913Ile) rs372740994
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957
NM_001376.5(DYNC1H1):c.4075-6C>T rs377411812
NM_001376.5(DYNC1H1):c.409G>A (p.Val137Ile) rs143421325
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439
NM_001376.5(DYNC1H1):c.5310C>T (p.Gly1770=) rs34013442
NM_001376.5(DYNC1H1):c.6795C>T (p.Tyr2265=) rs200339812
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094
NM_001376.5(DYNC1H1):c.7290C>T (p.Asn2430=) rs112811548
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029
NM_001376.5(DYNC1H1):c.9138G>T (p.Ser3046=) rs34338935
NM_001378452.1(ITPR1):c.3457A>G (p.Met1153Val) rs199698357
NM_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn) rs34398445
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg) rs41291187
NM_001458.4(FLNC):c.2390-9T>C rs368068407
NM_001458.4(FLNC):c.3838C>T (p.Leu1280=) rs34180031
NM_001458.4(FLNC):c.5544C>T (p.Ser1848=) rs1350503435
NM_001458.4(FLNC):c.5578C>T (p.Arg1860Cys) rs181067717
NM_001458.4(FLNC):c.5644A>G (p.Ile1882Val) rs184018403
NM_001458.4(FLNC):c.597C>T (p.Ala199=) rs143942649
NM_001458.4(FLNC):c.6175G>A (p.Val2059Met) rs201333104
NM_001458.4(FLNC):c.8118C>T (p.Leu2706=) rs28379666
NM_001458.4(FLNC):c.8121T>C (p.Ile2707=) rs28437296
NM_001482.3(GATM):c.1252T>C (p.Leu418=) rs1145086
NM_001482.3(GATM):c.330A>T (p.Gln110His) rs1288775
NM_001482.3(GATM):c.407C>T (p.Thr136Met) rs148564534
NM_001540.5(HSPB1):c.16G>A (p.Val6Ile) rs1049324
NM_001540.5(HSPB1):c.240A>G (p.Gln80=) rs377246178
NM_001540.5(HSPB1):c.318G>C (p.Pro106=) rs750349055
NM_001540.5(HSPB1):c.36G>T (p.Arg12=) rs145369859
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro) rs367662394
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) rs77586767
NM_001614.5(ACTG1):c.126C>T (p.Gly42=) rs11549197
NM_001614.5(ACTG1):c.558C>T (p.Thr186=) rs142893042
NM_001614.5(ACTG1):c.714G>A (p.Lys238=) rs11549173
NM_001614.5(ACTG1):c.774G>A (p.Pro258=) rs61997068
NM_001692.4(ATP6V1B1):c.144C>T (p.Asn48=) rs144845223
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) rs145735762
NM_001843.4(CNTN1):c.1401T>C (p.Gly467=) rs61759480
NM_001843.4(CNTN1):c.2324G>A (p.Ser775Asn) rs34326474
NM_001843.4(CNTN1):c.401-9C>T rs57340925
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
NM_001844.5(COL2A1):c.213C>T (p.Asp71=) rs112469769
NM_001844.5(COL2A1):c.2949C>T (p.Val983=) rs201719788
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu) rs200786329
NM_001845.6(COL4A1):c.2160C>T (p.Gly720=) rs781133776
NM_001845.6(COL4A1):c.2669C>T (p.Pro890Leu) rs139859950
NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg) rs146134172
NM_001848.2(COL6A1):c.1115A>G (p.Glu372Gly) rs149338158
NM_001848.2(COL6A1):c.1525-9C>T rs768508076
NM_001848.2(COL6A1):c.1814-6C>G rs182804464
NM_001848.2(COL6A1):c.2809A>G (p.Lys937Glu) rs117583120
NM_001848.3(COL6A1):c.347G>A (p.Ser116Asn) rs11553519
NM_001849.3(COL6A2):c.1552C>T (p.Pro518Ser) rs141166141
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.2599C>T (p.Arg867Trp) rs144484744
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.316G>A (p.Glu106Lys) rs141703710
NM_001849.3(COL6A2):c.679G>A (p.Asp227Asn) rs35881321
NM_001849.3(COL6A2):c.714+9C>T rs78822624
NM_001849.4(COL6A2):c.1970-9G>A rs747900252
NM_001851.5(COL9A1):c.1349A>G (p.Glu450Gly) rs77706858
NM_001851.5(COL9A1):c.876+6T>C rs73473595
NM_001851.5(COL9A1):c.902C>T (p.Pro301Leu) rs192047082
NM_001852.4(COL9A2):c.1007C>A (p.Ala336Glu) rs150075912
NM_001852.4(COL9A2):c.1551C>T (p.Gly517=) rs140697524
NM_001852.4(COL9A2):c.1870+9T>C rs139929272
NM_001852.4(COL9A2):c.1981C>A (p.Pro661Thr) rs140041506
NM_001852.4(COL9A2):c.976_977inv (p.Gln326Trp)
NM_001853.4(COL9A3):c.1427C>G (p.Pro476Arg) rs142066316
NM_001853.4(COL9A3):c.1896C>T (p.Asp632=) rs74830351
NM_001853.4(COL9A3):c.755G>A (p.Arg252Gln) rs139573483
NM_001854.4(COL11A1):c.2921C>A (p.Pro974Gln) rs78046647
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His) rs140250347
NM_001854.4(COL11A1):c.52A>T (p.Thr18Ser) rs114630202
NM_001888.5(CRYM):c.807T>C (p.Phe269=) rs144588424
NM_001909.5(CTSD):c.100C>T (p.Arg34Trp) rs779278368
NM_001909.5(CTSD):c.1071+7G>A rs374010531
NM_001909.5(CTSD):c.111G>A (p.Ser37=) rs535140505
NM_001909.5(CTSD):c.173C>T (p.Ala58Val) rs17571
NM_001909.5(CTSD):c.189C>T (p.Thr63=) rs114051835
NM_001909.5(CTSD):c.231C>T (p.Ala77=) rs2230067
NM_001909.5(CTSD):c.465T>C (p.Thr155=) rs11555039
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302
NM_001927.4(DES):c.1026C>T (p.Asn342=) rs61731508
NM_001927.4(DES):c.1257C>T (p.Pro419=) rs143154982
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.4(DES):c.1375G>A (p.Val459Ile) rs73991549
NM_001927.4(DES):c.243C>T (p.Ser81=) rs201594392
NM_001927.4(DES):c.372G>A (p.Glu124=) rs34365369
NM_001927.4(DES):c.408C>T (p.Leu136=) rs111828114
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699
NM_001927.4(DES):c.736-8C>A rs140375681
NM_001927.4(DES):c.792C>T (p.Asp264=) rs150370918
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_001927.4(DES):c.935A>C (p.Asp312Ala) rs148947510
NM_001927.4(DES):c.999C>T (p.Cys333=) rs1157722667
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) rs11479
NM_001953.5(TYMP):c.831G>A (p.Leu277=) rs8141558
NM_001958.4(EEF1A2):c.1266C>A (p.Gly422=) rs202102758
NM_001958.4(EEF1A2):c.1296G>A (p.Thr432=) rs200259257
NM_001958.4(EEF1A2):c.54C>G (p.Ser18=) rs200759764
NM_001961.4(EEF2):c.1151-7C>T rs200181170
NM_001961.4(EEF2):c.1470C>T (p.His490=) rs201757568
NM_001961.4(EEF2):c.1632T>C (p.His544=) rs36526
NM_001961.4(EEF2):c.1908C>G (p.Ala636=) rs139427550
NM_001961.4(EEF2):c.2190T>C (p.Tyr730=) rs36527
NM_001961.4(EEF2):c.2415C>T (p.Gly805=) rs143122141
NM_001961.4(EEF2):c.2496C>T (p.Ser832=) rs147759681
NM_001961.4(EEF2):c.444C>T (p.Ala148=) rs369366647
NM_001961.4(EEF2):c.627C>T (p.Leu209=) rs145155508
NM_002047.4(GARS1):c.1163G>A (p.Arg388Gln) rs17159287
NM_002047.4(GARS1):c.144C>T (p.Ala48=) rs754360926
NM_002047.4(GARS1):c.1614-4G>A rs376324026
NM_002047.4(GARS1):c.1962C>T (p.Ile654=) rs201927627
NM_002047.4(GARS1):c.2212G>A (p.Glu738Lys) rs181251337
NM_002047.4(GARS1):c.236G>A (p.Arg79Gln) rs369466037
NM_002047.4(GARS1):c.270C>T (p.Asp90=) rs369898799
NM_002047.4(GARS1):c.408A>G (p.Gln136=) rs200279483
NM_002047.4(GARS1):c.51G>A (p.Leu17=) rs202117737
NM_002047.4(GARS1):c.562G>A (p.Val188Ile) rs376772628
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310
NM_002047.4(GARS1):c.843G>A (p.Met281Ile) rs545669679
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu) rs57474185
NM_002055.5(GFAP):c.462-13dup rs572562362
NM_002055.5(GFAP):c.720G>T (p.Thr240=) rs2229012
NM_002087.3(GRN):c.1742A>T (p.Asp581Val) rs768223928
NM_002087.3(GRN):c.264+7G>A rs60100877
NM_002087.3(GRN):c.546G>A (p.Thr182=) rs138473783
NM_002087.3(GRN):c.705C>A (p.Pro235=) rs148507354
NM_002087.4(GRN):c.1297C>T (p.Arg433Trp) rs63750412
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala) rs25647
NM_002087.4(GRN):c.359C>A (p.Ser120Tyr) rs63750043
NM_002087.4(GRN):c.903G>A (p.Ser301=) rs63750142
NM_002087.4(GRN):c.99C>T (p.Asp33=) rs63750742
NM_002156.5(HSPD1):c.27C>G (p.Arg9=) rs11551349
NM_002156.5(HSPD1):c.425G>A (p.Arg142Lys) rs61755731
NM_002156.5(HSPD1):c.700+8C>T rs185384719
NM_002160.4(TNC):c.1342C>G (p.Arg448Gly) rs145086096
NM_002160.4(TNC):c.2620A>G (p.Ile874Val) rs61737743
NM_002180.2(IGHMBP2):c.1104C>T (p.Tyr368=) rs148157556
NM_002180.2(IGHMBP2):c.2837G>A (p.Arg946Gln) rs149824485
NM_002180.2(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615
NM_002180.2(IGHMBP2):c.548-10T>G rs139207271
NM_002180.2(IGHMBP2):c.741C>T (p.Ala247=) rs76707931
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762
NM_002206.3(ITGA7):c.1410-3del rs773251917
NM_002206.3(ITGA7):c.1606C>T (p.Leu536Phe) rs149028067
NM_002206.3(ITGA7):c.1965T>C (p.Cys655=) rs7971022
NM_002206.3(ITGA7):c.2433-5G>A rs79745402
NM_002206.3(ITGA7):c.285G>T (p.Pro95=) rs17854601
NM_002206.3(ITGA7):c.3031T>C (p.Leu1011=) rs17117879
NM_002222.6(ITPR1):c.1404C>T (p.Phe468=) rs192247062
NM_002222.6(ITPR1):c.1435G>A (p.Val479Ile) rs41289628
NM_002222.6(ITPR1):c.1962G>A (p.Lys654=) rs2306875
NM_002222.6(ITPR1):c.2181G>A (p.Ala727=) rs41289636
NM_002222.6(ITPR1):c.2682G>A (p.Lys894=) rs187516662
NM_002222.6(ITPR1):c.3588G>A (p.Ala1196=) rs199960483
NM_002222.6(ITPR1):c.3597G>A (p.Val1199=) rs201263269
NM_002222.6(ITPR1):c.3849C>T (p.His1283=) rs61757108
NM_002222.6(ITPR1):c.4191C>G (p.His1397Gln) rs61757110
NM_002222.6(ITPR1):c.4771-8C>T rs41304179
NM_002222.6(ITPR1):c.4782C>T (p.Ser1594=) rs373127487
NM_002222.6(ITPR1):c.5088G>A (p.Ser1696=) rs368425885
NM_002222.6(ITPR1):c.5277C>T (p.Asn1759=) rs113368815
NM_002222.6(ITPR1):c.5432T>G (p.Val1811Gly) rs143093165
NM_002222.6(ITPR1):c.5502T>C (p.Asp1834=) rs371661663
NM_002222.6(ITPR1):c.5958C>T (p.Thr1986=) rs144178989
NM_002222.6(ITPR1):c.6159C>T (p.Asn2053=) rs182891619
NM_002222.6(ITPR1):c.6258C>T (p.Asn2086=) rs202123078
NM_002222.6(ITPR1):c.6507A>G (p.Lys2169=) rs34491089
NM_002222.6(ITPR1):c.6528A>G (p.Thr2176=) rs13079522
NM_002222.6(ITPR1):c.66G>A (p.Ser22=) rs112944532
NM_002222.6(ITPR1):c.6723G>A (p.Pro2241=) rs200426774
NM_002222.6(ITPR1):c.6865C>T (p.Leu2289=) rs2291862
NM_002222.6(ITPR1):c.6909C>T (p.Gly2303=) rs41290672
NM_002222.6(ITPR1):c.6910G>A (p.Ala2304Thr) rs201144431
NM_002222.6(ITPR1):c.7317C>T (p.Ser2439=) rs375227391
NM_002222.6(ITPR1):c.7446T>C (p.Thr2482=) rs711631
NM_002222.6(ITPR1):c.7500G>A (p.Lys2500=) rs901854
NM_002222.6(ITPR1):c.7770C>T (p.Ile2590=) rs371988852
NM_002222.6(ITPR1):c.7797C>T (p.Thr2599=) rs368405302
NM_002222.6(ITPR1):c.789C>T (p.Phe263=) rs369681244
NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln) rs115466046
NM_002241.5(KCNJ10):c.771T>C (p.His257=) rs775848365
NM_002292.4(LAMB2):c.109C>G (p.Pro37Ala) rs144765752
NM_002292.4(LAMB2):c.1206G>A (p.Arg402=) rs201999373
NM_002296.4(LBR):c.1609T>G (p.Ser537Ala) rs80299691
NM_002296.4(LBR):c.837+4C>T rs538103502
NM_002296.4(LBR):c.995C>T (p.Ala332Val) rs141647564
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321
NM_002335.4(LRP5):c.2193C>T (p.Asn731=) rs147388442
NM_002335.4(LRP5):c.2220C>T (p.Asn740=) rs2306862