ClinVar Miner

Variants from PreventionGenetics, PreventionGenetics with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from PreventionGenetics, PreventionGenetics: Collection method of the submission from PreventionGenetics, PreventionGenetics:
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
5730 7274 110 4223 1181 103 95 5168

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
PreventionGenetics, PreventionGenetics pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response protective risk factor other
pathogenic 0 18 6 1 0 0 0 21 0 7 0
likely pathogenic 48 0 11 0 1 0 0 4 0 1 0
uncertain significance 15 22 21 173 53 0 0 0 0 2 0
likely benign 13 6 672 17 1580 1 3 0 0 5 2
benign 15 11 323 2578 72 4 11 13 5 23 9

Submitter to submitter summary #

Total submitters: 81
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
Genetic Services Laboratory, University of Chicago 0 1128 0 1399 93 1 3 1494
GeneDx 0 5582 0 1090 141 1 15 1247
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 3270 0 586 324 8 8 926
Illumina Clinical Services Laboratory,Illumina 0 444 0 366 125 0 0 491
Integrated Genetics/Laboratory Corporation of America 0 1192 0 376 111 0 2 489
Invitae 0 1396 0 373 85 0 24 482
CeGaT Praxis fuer Humangenetik Tuebingen 0 372 0 155 189 0 11 355
Athena Diagnostics Inc 0 1494 0 336 15 0 2 353
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 2681 0 257 48 1 1 307
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 1697 0 260 37 0 4 301
Quest Diagnostics Nichols Institute San Juan Capistrano 0 410 0 196 81 0 3 279
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 236 0 232 23 0 1 256
Ambry Genetics 0 1150 0 180 7 0 0 187
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 165 107 35 43 0 0 185
Department of Pathology and Laboratory Medicine,Sinai Health System 0 155 0 58 100 0 2 160
Mayo Clinic Laboratories, Mayo Clinic 0 651 0 118 28 0 1 147
OMIM 0 22 0 1 1 60 9 71
Leiden Open Variation Database 0 20 0 34 12 0 3 49
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 54 0 32 12 0 0 44
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 28 0 18 12 0 5 35
PharmGKB 0 0 0 0 0 33 0 33
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 107 0 21 1 0 0 22
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 3 17 0 0 0 20
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 52 0 13 4 0 0 17
Counsyl 0 42 0 11 2 0 0 13
CSER _CC_NCGL, University of Washington 0 11 0 2 10 0 1 13
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 49 0 12 1 0 0 13
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 10 0 9 2 0 0 11
Mendelics 0 22 0 5 4 0 0 9
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 3 0 3 4 0 1 8
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 15 0 3 0 0 5 8
Stanford Center for Inherited Cardiovascular Disease, Stanford University 0 7 0 2 6 0 0 8
Research and Development, ARUP Laboratories 0 7 0 1 7 0 0 8
University of Washington Department of Laboratory Medicine, University of Washington 0 2 0 0 2 1 4 7
Broad Institute Rare Disease Group, Broad Institute 0 4 0 4 2 0 0 6
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 20 0 6 0 0 0 6
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 0 0 4 0 0 1 5
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 18 0 0 2 0 2 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 1 2 1 0 4
Department of Pathology and Molecular Medicine,Queen's University 0 10 0 3 1 0 0 4
Practice for Gait Abnormalities, David Pomarino,Competency Network Toe Walking c/o Practice Pomarino 0 0 0 0 3 0 1 4
Claritas Genomics 0 18 0 3 0 0 0 3
Department of Prosthodontics,Peking University School and Hospital of Stomatology 0 0 0 0 0 0 3 3
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 20 0 1 0 0 2 3
Inherited Neuropathy Consortium 0 1 0 0 3 0 0 3
Bruce Budowle Laboratory,University of North Texas Health Science Center 0 0 0 0 0 3 0 3
CFTR-France 0 0 0 0 0 0 3 3
King Laboratory,University of Washington 0 1 0 1 1 0 0 2
Blueprint Genetics 0 2 0 2 0 0 0 2
Center for Genetic Medicine Research,Children's National Medical Center 0 0 0 0 2 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 0 0 0 2 2
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 0 2 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 0 2 0 0 0 2
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 2 0 1 0 0 1 2
Medical Genetics Summaries 0 0 0 0 0 2 0 2
CZECANCA consortium 0 14 0 1 0 0 1 2
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas 0 0 0 0 2 0 0 2
MAGI's Lab - Research,MAGI Group 0 0 0 0 2 0 0 2
Baylor Genetics 0 2 0 1 0 0 0 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 3 0 0 1 0 0 1
PreventionGenetics, PreventionGenetics 17929 242 0 1 0 0 0 1
Natera, Inc. 0 28 0 0 1 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 0 1 0 0 0 1
RettBASE 0 4 0 1 0 0 0 1
Molecular Genetics and Enzymology, National Research Centre 0 0 0 0 1 0 0 1
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 1 0 0 0 1
TilsonLab,Columbia University 0 0 0 0 0 0 1 1
Foundation Medicine, Inc. 0 0 0 0 1 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 3 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
Endocrine oncology group, Uppsala University 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 12 0 1 0 0 0 1
Molecular Oncology Laboratory,Hospital Clínico San Carlos 0 1 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 3 0 1 0 0 0 1
3DMed Clinical Laboratory Inc 0 1 0 0 1 0 0 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 2 0 0 1 0 0 1
Lab. Molecular Oncology,VUB, Free University of Brussels 0 0 0 0 1 0 0 1
Institute of Clinical Molecular Biology,Kiel University 0 0 0 0 0 0 1 1
Center for Reproductive Medicine,Shandong Provincial Hospital Affiliated to Shandong University 0 0 0 0 0 0 1 1
Department of Cardiology, Chinese Academy of Medical Sciences,Fuwai Hospital 0 0 0 0 1 0 0 1
Paris Brain Institute,Inserm - ICM 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 5168
Download table as spreadsheet
HGVS dbSNP
MYH11:c.503-14_503-12del rs141564071
NM_000016.5(ACADM):c.351A>C (p.Thr117=) rs74090726
NM_000018.4(ACADVL):c.1066A>G (p.Ile356Val) rs150140386
NM_000018.4(ACADVL):c.1434+14T>A rs202217537
NM_000018.4(ACADVL):c.194C>T (p.Pro65Leu) rs28934585
NM_000020.2(ACVRL1):c.1377+45T>C rs706815
NM_000020.2(ACVRL1):c.642C>T (p.Gly214=) rs139008591
NM_000023.4(SGCA):c.37+23G>A rs79410682
NM_000023.4(SGCA):c.528C>T (p.Thr176=) rs1801190
NM_000023.4(SGCA):c.62C>T (p.Thr21Ile) rs199804735
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg) rs201131924
NM_000026.4(ADSL):c.124C>T (p.Leu42=) rs2228415
NM_000026.4(ADSL):c.270T>C (p.Ala90=) rs143275316
NM_000026.4(ADSL):c.440A>T (p.Lys147Met) rs11089991
NM_000029.4(AGT):c.803T>C (p.Met268Thr) rs699
NM_000030.3(AGXT):c.166-14C>T rs180177176
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000035.4(ALDOB):c.156T>G (p.Thr52=) rs149671008
NM_000035.4(ALDOB):c.799+6G>A rs141888548
NM_000037.4(ANK1):c.1320G>A (p.Pro440=) rs28533718
NM_000037.4(ANK1):c.1484A>G (p.Asn495Ser) rs142690258
NM_000037.4(ANK1):c.1506C>T (p.Ala502=) rs34387324
NM_000037.4(ANK1):c.1590C>T (p.Ala530=) rs61758865
NM_000037.4(ANK1):c.1782C>A (p.Ser594=) rs61753679
NM_000037.4(ANK1):c.183G>C (p.Val61=) rs61753680
NM_000037.4(ANK1):c.2196+6G>A rs200761553
NM_000037.4(ANK1):c.237C>T (p.Asn79=) rs372696694
NM_000037.4(ANK1):c.2960+13G>T rs200746947
NM_000037.4(ANK1):c.4008G>A (p.Pro1336=) rs147536061
NM_000037.4(ANK1):c.4385C>T (p.Ala1462Val) rs34664882
NM_000037.4(ANK1):c.4506C>T (p.Arg1502=) rs34265667
NM_000037.4(ANK1):c.450A>G (p.Val150=) rs6982971
NM_000037.4(ANK1):c.4974C>T (p.Asp1658=) rs149859024
NM_000037.4(ANK1):c.5544+91C>T rs72638959
NM_000037.4(ANK1):c.654C>A (p.Asn218Lys) rs61735313
NM_000037.4(ANK1):c.909+7A>G rs17661203
NM_000038.6(APC):c.1139G>A (p.Arg380Gln) rs587782886
NM_000038.6(APC):c.120G>A (p.Glu40=) rs142720069
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567
NM_000038.6(APC):c.1419G>A (p.Gln473=) rs141579422
NM_000038.6(APC):c.1686G>A (p.Thr562=) rs770256026
NM_000038.6(APC):c.1825G>A (p.Val609Ile) rs147863331
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809
NM_000038.6(APC):c.2262T>G (p.Val754=) rs148987776
NM_000038.6(APC):c.2297C>T (p.Ala766Val) rs200339830
NM_000038.6(APC):c.2322C>T (p.Asp774=) rs145792879
NM_000038.6(APC):c.2438A>G (p.Asn813Ser) rs201522866
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176
NM_000038.6(APC):c.2805C>T (p.Tyr935=) rs137854575
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540
NM_000038.6(APC):c.317G>A (p.Arg106His) rs201764637
NM_000038.6(APC):c.3249T>G (p.Asp1083Glu) rs201629780
NM_000038.6(APC):c.3264G>A (p.Lys1088=) rs114774495
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000038.6(APC):c.3471G>A (p.Glu1157=) rs143927847
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995
NM_000038.6(APC):c.3624C>T (p.Thr1208=) rs730882125
NM_000038.6(APC):c.3650A>C (p.Asn1217Thr) rs138933660
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000038.6(APC):c.4326T>A (p.Pro1442=) rs67622085
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu) rs111866410
NM_000038.6(APC):c.4420G>A (p.Ala1474Thr) rs139387758
NM_000038.6(APC):c.4833G>A (p.Gln1611=) rs762030106
NM_000038.6(APC):c.4893T>C (p.Ser1631=) rs35634377
NM_000038.6(APC):c.4905G>A (p.Gly1635=) rs137988845
NM_000038.6(APC):c.5009C>T (p.Ala1670Val) rs202228932
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly) rs370560998
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn) rs148275069
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289
NM_000038.6(APC):c.5271T>C (p.Ser1757=) rs752875511
NM_000038.6(APC):c.5274T>A (p.Ser1758=) rs199600387
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552
NM_000038.6(APC):c.5506G>A (p.Gly1836Arg) rs766739164
NM_000038.6(APC):c.5790A>G (p.Gln1930=) rs141152252
NM_000038.6(APC):c.5805G>A (p.Gln1935=) rs377040690
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417
NM_000038.6(APC):c.6135C>T (p.Ser2045=) rs187297940
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup) rs587780602
NM_000038.6(APC):c.6510A>C (p.Pro2170=) rs138571760
NM_000038.6(APC):c.6526T>C (p.Leu2176=) rs183468041
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187
NM_000038.6(APC):c.6921G>A (p.Ser2307=) rs2229993
NM_000038.6(APC):c.705A>G (p.Leu235=) rs147036141
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser) rs2229995
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln) rs147549623
NM_000038.6(APC):c.7717A>G (p.Ile2573Val) rs145444830
NM_000038.6(APC):c.7731A>G (p.Ser2577=) rs537187449
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816
NM_000038.6(APC):c.8042C>T (p.Pro2681Leu) rs182456139
NM_000038.6(APC):c.8043G>C (p.Pro2681=) rs149347068
NM_000038.6(APC):c.933+30A>G rs145211300
NM_000046.5(ARSB):c.1072G>A (p.Val358Met) rs1065757
NM_000047.3(ARSL):c.-14GA[3] rs200332753
NM_000048.4(ASL):c.1164C>T (p.His388=) rs75300185
NM_000051.3(ATM):c.1009C>T (p.Arg337Cys) rs138398778
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.162T>C (p.Tyr54=) rs3218690
NM_000051.3(ATM):c.1744T>C (p.Phe582Leu) rs2235006
NM_000051.3(ATM):c.1953A>G (p.Leu651=) rs730881283
NM_000051.3(ATM):c.2096A>G (p.Glu699Gly) rs147934285
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.2251-10T>G rs730881346
NM_000051.3(ATM):c.2522A>C (p.Asp841Ala) rs587781812
NM_000051.3(ATM):c.2572T>C (p.Phe858Leu) rs1800056
NM_000051.3(ATM):c.2638+2T>C rs587779826
NM_000051.3(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.3(ATM):c.3014A>G (p.Asn1005Ser) rs146531614
NM_000051.3(ATM):c.3118A>G (p.Met1040Val) rs3092857
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.370A>G (p.Ile124Val) rs148590073
NM_000051.3(ATM):c.378T>A (p.Asp126Glu) rs2234997
NM_000051.3(ATM):c.4109+6T>C rs368606937
NM_000051.3(ATM):c.4138C>T (p.His1380Tyr) rs3092856
NM_000051.3(ATM):c.4258C>T (p.Leu1420Phe) rs1800058
NM_000051.3(ATM):c.4473C>T (p.Phe1491=) rs4988008
NM_000051.3(ATM):c.4626G>A (p.Leu1542=) rs786202784
NM_000051.3(ATM):c.4980C>T (p.Asn1660=) rs144338238
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.610G>A (p.Gly204Arg) rs147915571
NM_000051.3(ATM):c.6465G>A (p.Val2155=) rs140423883
NM_000051.3(ATM):c.6572+4T>C rs587780636
NM_000051.3(ATM):c.657T>C (p.Cys219=) rs2235003
NM_000051.3(ATM):c.6919C>T (p.Leu2307Phe) rs56009889
NM_000051.3(ATM):c.6995T>C (p.Leu2332Pro) rs4988111
NM_000051.3(ATM):c.7630-17T>C rs116047570
NM_000051.3(ATM):c.7788+8G>T rs112775908
NM_000051.3(ATM):c.8151+11C>T rs555381912
NM_000051.3(ATM):c.8592C>T (p.Tyr2864=) rs56025670
NM_000051.3(ATM):c.8671+9T>G rs200190537
NM_000051.3(ATM):c.8730C>G (p.Leu2910=) rs551041839
NM_000051.3(ATM):c.998C>T (p.Ser333Phe) rs28904919
NM_000051.4(ATM):c.1066-6T>G rs201686625
NM_000051.4(ATM):c.146C>G rs1800054
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr) rs35963548
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022
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.4424A>G (p.Tyr1475Cys) rs34640941
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910
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.6176C>T (p.Thr2059Ile) rs144761622
NM_000051.4(ATM):c.6795C>T rs3218699
NM_000051.4(ATM):c.7630-2A>C rs587779866
NM_000052.7(ATP7A):c.4226+11T>C rs200009243
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136
NM_000053.4(ATP7B):c.2355+13T>G rs139211339
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=) rs746358240
NM_000053.4(ATP7B):c.3015C>T (p.Asn1005=) rs74085888
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249
NM_000053.4(ATP7B):c.3557-6C>T rs140708492
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=) rs114771537
NM_000053.4(ATP7B):c.3903+6C>T rs2282057
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=) rs116091486
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048
NM_000054.6(AVPR2):c.26-6T>G rs56689668
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097
NM_000057.4(BLM):c.2555+7T>C rs3815003
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935
NM_000057.4(BLM):c.3102G>A (p.Thr1034=) rs2227933
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) rs2227934
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) rs1063147
NM_000057.4(BLM):c.3961G>A (p.Val1321Ile) rs7167216
NM_000057.4(BLM):c.4076+4T>G rs183176301
NM_000059.3(BRCA2):c.-11C>T rs76874770
NM_000059.3(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493
NM_000059.3(BRCA2):c.1275A>G (p.Glu425=) rs34355306
NM_000059.3(BRCA2):c.1788T>C (p.Asp596=) rs11571642
NM_000059.3(BRCA2):c.1911T>C (p.Gly637=) rs11571652
NM_000059.3(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687
NM_000059.3(BRCA2):c.3054G>A (p.Lys1018=) rs368404583
NM_000059.3(BRCA2):c.316+12A>G rs186419778
NM_000059.3(BRCA2):c.316+13A>G rs773097109
NM_000059.3(BRCA2):c.3262C>T (p.Pro1088Ser) rs80358572
NM_000059.3(BRCA2):c.3326C>T (p.Ala1109Val) rs41293479
NM_000059.3(BRCA2):c.3462C>T (p.Thr1154=) rs4986856
NM_000059.3(BRCA2):c.3568C>T (p.Arg1190Trp) rs80358604
NM_000059.3(BRCA2):c.3682A>G (p.Asn1228Asp) rs28897722
NM_000059.3(BRCA2):c.3874C>T (p.Leu1292=) rs587780867
NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.3(BRCA2):c.4584C>T (p.Ser1528=) rs80359788
NM_000059.3(BRCA2):c.4686A>G (p.Gln1562=) rs28897730
NM_000059.3(BRCA2):c.502C>A (p.Pro168Thr) rs80358726
NM_000059.3(BRCA2):c.516+14C>T rs182828913
NM_000059.3(BRCA2):c.517-19C>T rs11571623
NM_000059.3(BRCA2):c.5423T>C (p.Ile1808Thr) rs397507350
NM_000059.3(BRCA2):c.5529A>C (p.Ala1843=) rs372951842
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.6057C>T (p.Asn2019=) rs147961615
NM_000059.3(BRCA2):c.627C>T (p.Leu209=) rs28897704
NM_000059.3(BRCA2):c.632-13T>G rs775947267
NM_000059.3(BRCA2):c.6338A>G (p.Asn2113Ser) rs80358874
NM_000059.3(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659
NM_000059.3(BRCA2):c.6455C>A (p.Ser2152Tyr) rs80358881
NM_000059.3(BRCA2):c.6541G>C (p.Gly2181Arg) rs371067421
NM_000059.3(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212
NM_000059.3(BRCA2):c.6921A>G (p.Ser2307=) rs181183366
NM_000059.3(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916
NM_000059.3(BRCA2):c.7008-62A>G rs76584943
NM_000059.3(BRCA2):c.7050C>T (p.Thr2350=) rs587780870
NM_000059.3(BRCA2):c.7096C>G (p.Leu2366Val) rs80358941
NM_000059.3(BRCA2):c.8417C>T (p.Ser2806Leu) rs587782785
NM_000059.3(BRCA2):c.8755-19A>G rs398122713
NM_000059.3(BRCA2):c.9257-10del rs276174919
NM_000059.3(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000059.3(BRCA2):c.9997C>G (p.Leu3333Val) rs567476314
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) rs276174803
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.4(BRCA2):c.10203G>A (p.Thr3401=) rs147854265
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046
NM_000059.4(BRCA2):c.1362A>G (p.Lys454=) rs55919657
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654
NM_000059.4(BRCA2):c.2550A>G (p.Gln850=) rs80359785
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg) rs80358545
NM_000059.4(BRCA2):c.3073A>G (p.Lys1025Glu) rs80358550
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952
NM_000059.4(BRCA2):c.3839A>T (p.Asp1280Val) rs56337919
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg) rs80358674
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=) rs41293491
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.4(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.4(BRCA2):c.6290C>T (p.Thr2097Met) rs80358866
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.4(BRCA2):c.658_659del rs80359604
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.4(BRCA2):c.7435+6G>A rs81002852
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749
NM_000059.4(BRCA2):c.8487+19A>G rs11571743
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.4(BRCA2):c.8917C>T (p.Arg2973Cys) rs45469092
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000059.4(BRCA2):c.9649-20C>T rs56177715
NM_000059.4(BRCA2):c.9699_9702del rs80359775
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=) rs144206959
NM_000069.3(CACNA1S):c.1711G>A (p.Val571Ile) rs114191482
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235
NM_000069.3(CACNA1S):c.1948+10C>G rs201173419
NM_000069.3(CACNA1S):c.2361-13C>T rs2182117
NM_000069.3(CACNA1S):c.2745+14C>T rs74138824
NM_000069.3(CACNA1S):c.3795+3G>A rs191758096
NM_000069.3(CACNA1S):c.383C>G (p.Thr128Ser) rs139491817
NM_000069.3(CACNA1S):c.394C>A (p.Leu132Met) rs377030324
NM_000069.3(CACNA1S):c.3953+7G>A rs141071505
NM_000069.3(CACNA1S):c.4668+19T>C rs140742077
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_000069.3(CACNA1S):c.895T>C (p.Tyr299His) rs35856559
NM_000070.3(CAPN3):c.1029+3A>G rs28364442
NM_000070.3(CAPN3):c.1355-6G>A rs28364485
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg) rs150226817
NM_000070.3(CAPN3):c.1668C>T (p.Ile556=) rs199884116
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=) rs147774793
NM_000070.3(CAPN3):c.2264-11C>T rs28364537
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625
NM_000070.3(CAPN3):c.2380+12del rs28364538
NM_000070.3(CAPN3):c.2381-12A>G rs73402734
NM_000070.3(CAPN3):c.2433T>C (p.Val811=) rs28364543
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.479C>G (p.Ala160Gly) rs17592
NM_000070.3(CAPN3):c.495C>T (p.Phe165=) rs1801324
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.78G>A (p.Pro26=) rs62642519
NM_000070.3(CAPN3):c.939G>A (p.Pro313=) rs78369269
NM_000070.3(CAPN3):c.96T>C (p.Thr32=) rs1801496
NM_000070.3(CAPN3):c.984C>T (p.Cys328=) rs28364441
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181
NM_000075.4(CDK4):c.776C>T (p.Ser259Leu) rs201617914
NM_000077.4(CDKN2A):c.-25C>T rs144481587
NM_000077.4(CDKN2A):c.-2G>A rs191394143
NM_000077.4(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548
NM_000077.4(CDKN2A):c.150+37G>C rs45456595
NM_000077.4(CDKN2A):c.170C>T (p.Ala57Val) rs372266620
NM_000077.4(CDKN2A):c.251A>C (p.Asp84Ala) rs587782792
NM_000077.4(CDKN2A):c.318G>A (p.Val106=) rs199888003
NM_000077.4(CDKN2A):c.369T>A (p.His123Gln) rs6413463
NM_000077.4(CDKN2A):c.373G>C (p.Asp125His) rs146179135
NM_000077.4(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464
NM_000077.4(CDKN2A):c.430C>T (p.Arg144Cys) rs116150891
NM_000077.4(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249
NM_000080.4(CHRNE):c.1033-6C>T rs2075763
NM_000080.4(CHRNE):c.1220-45C>T rs75492003
NM_000080.4(CHRNE):c.1402G>C (p.Val468Leu) rs139171143
NM_000080.4(CHRNE):c.45C>T (p.Leu15=) rs34563587
NM_000080.4(CHRNE):c.465C>T (p.Phe155=) rs139625105
NM_000080.4(CHRNE):c.519C>T (p.Ala173=) rs33970119
NM_000080.4(CHRNE):c.803-6_803-3del rs762704832
NM_000086.2(CLN3):c.1211A>G (p.His404Arg) rs77595156
NM_000086.2(CLN3):c.831G>A (p.Val277=) rs1142183
NM_000088.3(COL1A1):c.904-9G>T rs141726413
NM_000089.3(COL1A2):c.948C>T (p.Gly316=) rs34511999
NM_000090.3(COL3A1):c.114C>G (p.Ser38=) rs141241764
NM_000090.3(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890
NM_000090.3(COL3A1):c.1927T>C (p.Leu643=) rs41263757
NM_000090.3(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773
NM_000090.3(COL3A1):c.3642C>A (p.Gly1214=) rs184402915
NM_000090.3(COL3A1):c.4011+34A>G rs41265549
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
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.2501A>G (p.Lys834Arg) rs56226424
NM_000091.4(COL4A3):c.3031C>T (p.Arg1011Cys) rs73996408
NM_000091.4(COL4A3):c.3270A>C (p.Pro1090=) rs201989155
NM_000091.4(COL4A3):c.3325C>T (p.Pro1109Ser) rs55816283
NM_000091.4(COL4A3):c.346C>A (p.Pro116Thr) rs115324397
NM_000091.4(COL4A3):c.4380T>C (p.Cys1460=) rs114430490
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_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg) rs77964815
NM_000092.4(COL4A4):c.1781A>G (p.Glu594Gly) rs35998949
NM_000092.4(COL4A4):c.195T>C (p.Gly65=) rs201278620
NM_000092.4(COL4A4):c.2630G>A (p.Arg877Gln) rs150979437
NM_000092.4(COL4A4):c.2717-5A>T rs1800519
NM_000092.4(COL4A4):c.4217-15T>C rs200926310
NM_000092.4(COL4A4):c.5016A>G (p.Glu1672=) rs34761049
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_000093.5(COL5A1):c.1390-18CT[3] rs863223441
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_000094.3(COL7A1):c.2242G>A (p.Glu748Lys) rs148411473
NM_000094.3(COL7A1):c.6696C>A (p.Pro2232=) rs61729223
NM_000100.3(CSTB):c.15G>T (p.Ala5=) rs4533
NM_000100.3(CSTB):c.67-3T>C rs6383
NM_000101.4(CYBA):c.214T>C (p.Tyr72His) rs4673
NM_000104.3(CYP1B1):c.1358A>G (p.Asn453Ser) rs1800440
NM_000108.5(DLD):c.439-7T>C rs10263341
NM_000109.4(DMD):c.1294G>A (p.Glu432Lys) rs189143447
NM_000110.3(DPYD):c.775A>G (p.Lys259Glu) rs45589337
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn) rs1801158
NM_000113.3(TOR1A):c.646G>C (p.Asp216His) rs1801968
NM_000118.3(ENG):c.1510G>A (p.Val504Met) rs116330805
NM_000118.3(ENG):c.732C>T (p.Pro244=) rs112262663
NM_000119.3(EPB42):c.543T>C (p.Asn181=) rs114136713
NM_000119.3(EPB42):c.89G>A (p.Ser30Asn) rs149249456
NM_000119.3(EPB42):c.984C>T (p.Thr328=) rs35719500
NM_000123.3(ERCC5):c.138T>C (p.His46=) rs1047768
NM_000123.3(ERCC5):c.1586G>C (p.Cys529Ser) rs2227869
NM_000123.3(ERCC5):c.3310G>C (p.Asp1104His) rs17655
NM_000123.3(ERCC5):c.760A>G (p.Met254Val) rs1047769
NM_000123.3(ERCC5):c.945C>T (p.His315=) rs34061299
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528
NM_000124.4(ERCC6):c.1337G>A (p.Gly446Asp) rs4253047
NM_000124.4(ERCC6):c.135C>G (p.Leu45=) rs2228524
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=) rs2229760
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527
NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro) rs4253211
NM_000124.4(ERCC6):c.4065T>G (p.Asp1355Glu) rs34917815
NM_000124.4(ERCC6):c.411G>A (p.Leu137=) rs4253013
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529
NM_000129.3(F13A1):c.103G>T (p.Val35Leu) rs5985
NM_000129.3(F13A1):c.1694C>T (p.Pro565Leu) rs5982
NM_000130.4(F5):c.1242A>G (p.Lys414=) rs6035
NM_000130.4(F5):c.2573A>G (p.Lys858Arg) rs4524
NM_000130.4(F5):c.3853C>A (p.Leu1285Ile) rs1046712
NM_000130.4(F5):c.4095C>T (p.Thr1365=) rs9332607
NM_000130.4(F5):c.5290A>G (p.Met1764Val) rs6030
NM_000130.4(F5):c.730+7C>T rs6023
NM_000130.5(F5):c.6443T>C (p.Met2148Thr) rs9332701
NM_000131.4(F7):c.806-10T>C rs3093266
NM_000133.3(F9):c.580A>G (p.Thr194Ala) rs6048
NM_000135.4(FANCA):c.115A>C (p.Arg39=) rs17232091
NM_000135.4(FANCA):c.3348+18A>G rs1800347
NM_000135.4(FANCA):c.4167+46C>T rs191404781
NM_000136.3(FANCC):c.*42G>A rs7029888
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367
NM_000136.3(FANCC):c.408A>G (p.Gln136=) rs1800360
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361
NM_000138.4(FBN1):c.1960+30G>A rs25459
NM_000138.4(FBN1):c.2113+19A>T rs541501178
NM_000138.4(FBN1):c.5097C>T (p.Tyr1699=) rs368979510
NM_000138.4(FBN1):c.5296+14G>A rs140650
NM_000138.4(FBN1):c.6577G>A (p.Glu2193Lys) rs201361628
NM_000138.4(FBN1):c.6705A>C (p.Gly2235=) rs2229326
NM_000138.4(FBN1):c.6932G>A (p.Arg2311His) rs141868829
NM_000138.4(FBN1):c.7051G>A (p.Gly2351Ser) rs746127796
NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008
NM_000138.5(FBN1):c.1746C>T (p.Cys582=) rs112366266
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=) rs113115949
NM_000138.5(FBN1):c.5065+10A>G rs375945405
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) rs111844882
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824
NM_000142.4(FGFR3):c.1959+8C>T rs371666188
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.169G>A (p.Val57Met) rs61735064
NM_000142.5(FGFR3):c.193G>A (p.Gly65Arg) rs2305178
NM_000145.3(FSHR):c.24G>T (p.Leu8Phe) rs115030945
NM_000145.3(FSHR):c.919G>A (p.Ala307Thr) rs6165
NM_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304
NM_000152.5(GAA):c.1327-18A>G rs2278619
NM_000152.5(GAA):c.1552-13G>A rs111261964
NM_000152.5(GAA):c.1599C>T (p.Cys533=) rs142766716
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460
NM_000152.5(GAA):c.2331+24T>C rs2304831
NM_000152.5(GAA):c.2332-12A>T rs200965268
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591
NM_000152.5(GAA):c.2446G>A (p.Val816Ile) rs1800314
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300
NM_000152.5(GAA):c.32G>A (p.Arg11Gln) rs138812846
NM_000152.5(GAA):c.547-4C>G rs3816256
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393
NM_000152.5(GAA):c.600C>T (p.Val200=) rs150895924
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673
NM_000152.5(GAA):c.955+12G>A rs2252455
NM_000153.4(GALC):c.1302C>T (p.Ser434=) rs3213918
NM_000153.4(GALC):c.195+19G>A rs189853941
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982
NM_000156.6(GAMT):c.312A>G (p.Pro104=) rs779679242
NM_000156.6(GAMT):c.571-6G>A rs2074899
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582
NM_000157.4(GBA):c.1093G>A (p.Glu365Lys) rs2230288
NM_000157.4(GBA):c.1223C>T (p.Thr408Met) rs75548401
NM_000157.4(GBA):c.667T>C (p.Trp223Arg) rs61748906
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr) rs193074572
NM_000158.4(GBE1):c.839G>A (p.Gly280Asp) rs28763902
NM_000159.4(GCDH):c.1167G>A (p.Leu389=) rs398123191
NM_000162.5(GCK):c.*11C>T rs200698755
NM_000162.5(GCK):c.1253+8C>T rs2908274
NM_000162.5(GCK):c.209-8G>A rs144798843
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.46-12C>T rs142829768
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656
NM_000163.5(GHR):c.195A>G (p.Ser65=) rs140501920
NM_000165.5(GJA1):c.717G>A (p.Arg239=) rs57946868
NM_000168.6(GLI3):c.1029-22dup rs559579130
NM_000168.6(GLI3):c.1243-40A>C rs77659679
NM_000168.6(GLI3):c.1357-17C>G rs190600888
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756
NM_000168.6(GLI3):c.2165A>G (p.Asn722Ser) rs146130351
NM_000168.6(GLI3):c.2373G>A (p.Pro791=) rs61754622
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000169.3(GLA):c.978G>A (p.Lys326=) rs151195362
NM_000170.2(GLDC):c.2380G>A (p.Ala794Thr) rs141933811
NM_000170.2(GLDC):c.498T>C (p.Pro166=) rs150193069
NM_000173.7(GP1BA):c.1311_1349del (p.415_427SEPAPSPTTPEPT[2]) rs770991996
NM_000173.7(GP1BA):c.1321_1359del (p.415_427SEPAPSPTTPEPT[2]) rs1259394995
NM_000173.7(GP1BA):c.482C>T (p.Thr161Met) rs6065
NM_000179.2(MSH6):c.1050C>T (p.Ala350=) rs730881802
NM_000179.2(MSH6):c.1186C>G (p.Leu396Val) rs2020908
NM_000179.2(MSH6):c.1449G>T (p.Val483=) rs35590297
NM_000179.2(MSH6):c.1508C>G (p.Ser503Cys) rs63750897
NM_000179.2(MSH6):c.178T>C (p.Leu60=) rs35819209
NM_000179.2(MSH6):c.2239C>T (p.Leu747=) rs63751305
NM_000179.2(MSH6):c.2319C>T (p.Leu773=) rs63749895
NM_000179.2(MSH6):c.260+7G>A rs774479750
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
NM_000179.2(MSH6):c.2940A>G (p.Glu980=) rs730881818
NM_000179.2(MSH6):c.3151G>A (p.Val1051Ile) rs576269342
NM_000179.2(MSH6):c.3162C>T (p.Ile1054=) rs149605979
NM_000179.2(MSH6):c.3173-18T>A rs189672273
NM_000179.2(MSH6):c.3203G>A (p.Arg1068Gln) rs398123230
NM_000179.2(MSH6):c.33C>G (p.Phe11Leu) rs747802641
NM_000179.2(MSH6):c.3438+11_3438+14del rs377746844
NM_000179.2(MSH6):c.3439-16C>T rs192614006
NM_000179.2(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999
NM_000179.2(MSH6):c.3801+17T>C rs3136365
NM_000179.2(MSH6):c.3911G>A (p.Arg1304Lys) rs34625968
NM_000179.2(MSH6):c.457+13A>G rs1800933
NM_000179.2(MSH6):c.628-7C>A rs373129248
NM_000179.3(MSH6):c.1164C>T (p.His388=) rs55708305
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821
NM_000179.3(MSH6):c.2272C>T (p.Leu758=) rs56371757
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met) rs34374438
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu) rs191109849
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile) rs376799914
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val) rs63750252
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217
NM_000180.4(GUCY2D):c.154G>T (p.Ala52Ser) rs61749665
NM_000180.4(GUCY2D):c.2101C>T (p.Pro701Ser) rs34598902
NM_000180.4(GUCY2D):c.61T>C (p.Trp21Arg) rs9905402
NM_000192.3(TBX5):c.331G>T (p.Asp111Tyr) rs77357563
NM_000192.3(TBX5):c.663+36G>T rs2236017
NM_000193.4(SHH):c.570G>A (p.Ser190=) rs9333633
NM_000193.4(SHH):c.876G>A (p.Gly292=) rs112055654
NM_000195.5(HPS1):c.*12C>T rs112544050
NM_000195.5(HPS1):c.11T>C (p.Val4Ala) rs58548334
NM_000195.5(HPS1):c.1397+7_1397+8delinsCT rs886038270
NM_000195.5(HPS1):c.2052C>T (p.Ala684=) rs576260502
NM_000195.5(HPS1):c.678C>T (p.Ala226=) rs539822608
NM_000203.5(IDUA):c.1230C>G (p.Thr410=) rs115790973
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298
NM_000203.5(IDUA):c.299+6C>T rs147498923
NM_000207.3(INS):c.*9C>T rs3842752
NM_000207.3(INS):c.-9C>T rs5505
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783
NM_000209.4(PDX1):c.285G>A (p.Pro95=) rs797045885
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) rs1801139
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196
NM_000214.3(JAG1):c.294C>T (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.588C>T (p.Cys196=) rs1801138
NM_000214.3(JAG1):c.765C>T (p.Tyr255=) rs1131695
NM_000218.3(KCNQ1):c.1590+14T>C rs11024034
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907
NM_000222.3(KIT):c.1621A>C rs3822214
NM_000228.3(LAMB3):c.332A>G (p.Asp111Gly) rs55824996
NM_000231.2(SGCG):c.*10G>A rs139369964
NM_000231.2(SGCG):c.102C>T (p.Arg34=) rs140810408
NM_000231.2(SGCG):c.435C>T (p.Asn145=) rs35628352
NM_000231.2(SGCG):c.579-22G>T rs111358030
NM_000231.3(SGCG):c.*13C>T rs9510701
NM_000231.3(SGCG):c.228T>C (p.Asp76=) rs1800350
NM_000231.3(SGCG):c.347G>A (p.Arg116His) rs17314986
NM_000232.4(SGCB):c.92G>T (p.Ser31Ile) rs115928999
NM_000232.4(SGCB):c.943G>A (p.Gly315Arg) rs150395645
NM_000243.2(MEFV):c.1760-4G>A rs79662406
NM_000243.2(MEFV):c.306T>C (p.Asp102=) rs224225
NM_000243.2(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000243.2(MEFV):c.495C>A (p.Ala165=) rs224223
NM_000243.2(MEFV):c.605G>A (p.Arg202Gln) rs224222
NM_000243.2(MEFV):c.942C>T (p.Arg314=) rs224213
NM_000243.3(MEFV):c.1105C>T rs11466023
NM_000243.3(MEFV):c.1223G>A rs11466024
NM_000243.3(MEFV):c.442G>C rs3743930
NM_000244.3(MEN1):c.1311G>A (p.Leu437=) rs138770431
NM_000244.3(MEN1):c.1424C>T (p.Pro475Leu) rs750112288
NM_000244.3(MEN1):c.1653G>A (p.Pro551=) rs368783097
NM_000244.3(MEN1):c.30G>T (p.Leu10=) rs371192390
NM_000244.3(MEN1):c.669+18C>T rs180737290
NM_000245.4(MET):c.-14-4G>A rs144126521
NM_000245.4(MET):c.1124A>G (p.Asn375Ser) rs33917957
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007
NM_000245.4(MET):c.4105T>C (p.Leu1369=) rs45575438
NM_000245.4(MET):c.948A>G (p.Ile316Met) rs35225896
NM_000249.3(MLH1):c.1050A>G (p.Pro350=) rs137937003
NM_000249.3(MLH1):c.1732-19T>A rs77120160
NM_000249.3(MLH1):c.1808C>G (p.Pro603Arg) rs63750876
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000249.3(MLH1):c.222T>C (p.Asp74=) rs755073786
NM_000249.3(MLH1):c.375A>G (p.Ala125=) rs1800144
NM_000249.3(MLH1):c.589-15C>T rs55658850
NM_000249.3(MLH1):c.790+10A>G rs182733777
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) rs63750447
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln) rs63751630
NM_000249.4(MLH1):c.1668-19A>G rs9876116
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873
NM_000249.4(MLH1):c.394G>C (p.Asp132His) rs28930073
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049
NM_000251.2(MSH2):c.-185C>A rs188036046
NM_000251.2(MSH2):c.1277-16T>C rs368653974
NM_000251.2(MSH2):c.1387-8G>T rs187525243
NM_000251.2(MSH2):c.1662-9G>A rs17218356
NM_000251.2(MSH2):c.1666T>C (p.Leu556=) rs61756466
NM_000251.2(MSH2):c.1737A>G (p.Lys579=) rs61756467
NM_000251.2(MSH2):c.1748A>G (p.Asn583Ser) rs201118107
NM_000251.2(MSH2):c.1886A>G (p.Gln629Arg) rs61756468
NM_000251.2(MSH2):c.1963G>A (p.Val655Ile) rs549467183
NM_000251.2(MSH2):c.2006-4G>A rs369853630
NM_000251.2(MSH2):c.2043A>G (p.Gln681=) rs730881763
NM_000251.2(MSH2):c.2154A>G (p.Gln718=) rs63750810
NM_000251.2(MSH2):c.2205C>T (p.Ile735=) rs533553381
NM_000251.2(MSH2):c.23C>T (p.Thr8Met) rs17217716
NM_000251.2(MSH2):c.366+4A>C rs876659880
NM_000251.2(MSH2):c.471C>T (p.Gly157=) rs61756463
NM_000251.2(MSH2):c.819A>G (p.Val273=) rs146577635
NM_000251.2(MSH2):c.965G>A (p.Gly322Asp) rs4987188
NM_000251.2(MSH2):c.984C>T (p.Ala328=) rs4987189
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe) rs17224367
NM_000251.3(MSH2):c.1387-14_1387-11del rs370436680
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288
NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del) rs267607919
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu) rs141711342
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999
NM_000252.3(MTM1):c.1260+3G>A rs222410
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435
NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=) rs200162906
NM_000257.4(MYH7):c.*20G>A rs45548631
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712
NM_000257.4(MYH7):c.1408-42del rs45490796
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816
NM_000257.4(MYH7):c.189C>T (p.Thr63=) rs2069540
NM_000257.4(MYH7):c.2162+4G>A rs145738465
NM_000257.4(MYH7):c.2967T>C (p.Ile989=) rs7157716
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236
NM_000257.4(MYH7):c.3853+7C>T rs45467397
NM_000257.4(MYH7):c.3918C>T (p.Leu1306=) rs144420313
NM_000257.4(MYH7):c.3972+15C>T rs3729820
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.4566T>C (p.Thr1522=) rs2754155
NM_000257.4(MYH7):c.4716C>T (p.Ile1572=) rs7140196
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=) rs142034311
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700
NM_000257.4(MYH7):c.5283+19C>T rs45582836
NM_000257.4(MYH7):c.5519T>C (p.Met1840Thr) rs149193520
NM_000257.4(MYH7):c.5736C>T (p.Ile1912=) rs200728597
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541
NM_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542
NM_000257.4(MYH7):c.895+12C>A rs186276057
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124
NM_000259.3(MYO5A):c.2814G>A (p.Glu938=) rs190656197
NM_000259.3(MYO5A):c.3207C>T (p.Leu1069=) rs183302379
NM_000259.3(MYO5A):c.696T>C (p.Tyr232=) rs148997257
NM_000260.4(MYO7A):c.1726G>A (p.Asp576Asn) rs187165412
NM_000260.4(MYO7A):c.448C>A (p.Arg150=) rs121965079
NM_000260.4(MYO7A):c.47T>C (p.Leu16Ser) rs1052030
NM_000261.2(MYOC):c.227G>A (p.Arg76Lys) rs2234926
NM_000264.5(PTCH1):c.-24_-22GGC[5] rs71366293
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836
NM_000264.5(PTCH1):c.2304C>T (p.Thr768=) rs1805156
NM_000264.5(PTCH1):c.2560+8G>A rs201541845
NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=) rs28446339
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu) rs2227968
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564
NM_000267.3(NF1):c.1846-12A>T rs188510882
NM_000267.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954
NM_000267.3(NF1):c.340C>T (p.Leu114=) rs7207410
NM_000267.3(NF1):c.3468C>T (p.Asn1156=) rs147955381
NM_000267.3(NF1):c.4111-8_4111-6del rs751729752
NM_000267.3(NF1):c.4686A>G (p.Glu1562=) rs144091165
NM_000267.3(NF1):c.4772+36T>C rs16972128
NM_000267.3(NF1):c.4986C>T (p.Asn1662=) rs140994965
NM_000267.3(NF1):c.655-29T>C rs182325576
NM_000267.3(NF1):c.731-6A>C rs369366499
NM_000267.3(NF1):c.7532C>T (p.Ala2511Val) rs148154172
NM_000267.3(NF1):c.7847G>A (p.Arg2616Gln) rs560262404
NM_000268.4(NF2):c.12C>T (p.Ala4=) rs144477078
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile) rs1788799
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085
NM_000271.5(NPC1):c.2572A>G (p.Ile858Val) rs1805082
NM_000271.5(NPC1):c.2793C>T (p.Asn931=) rs1140458
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.387T>C (p.Tyr129=) rs12970899
NM_000271.5(NPC1):c.644A>G (p.His215Arg) rs1805081
NM_000271.5(NPC1):c.665A>G (p.Asn222Ser) rs55680026
NM_000271.5(NPC1):c.66A>G (p.Ser22=) rs144415945
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251
NM_000272.4(NPHP1):c.115C>A (p.Pro39Thr) rs33958626
NM_000272.4(NPHP1):c.133A>C (p.Ile45Leu) rs145479679
NM_000272.4(NPHP1):c.2081A>G (p.Gln694Arg) rs186950965
NM_000272.4(NPHP1):c.654G>A (p.Glu218=) rs11675767
NM_000272.4(NPHP1):c.689C>T (p.Ala230Val) rs113450177
NM_000272.4(NPHP1):c.810C>T (p.Cys270=) rs73954628
NM_000272.4(NPHP1):c.829C>A (p.Arg277=) rs367600757
NM_000272.4(NPHP1):c.940-17G>A rs146343637
NM_000273.3(GPR143):c.456-9G>C rs376437604
NM_000275.3(OCA2):c.1007C>T (p.Ala336Val) rs34010619
NM_000275.3(OCA2):c.1026C>T (p.Tyr342=) rs1800403
NM_000275.3(OCA2):c.1117-17T>C rs200081580
NM_000275.3(OCA2):c.1256G>A (p.Arg419Gln) rs1800407
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330
NM_000275.3(OCA2):c.1887G>T (p.Val629=) rs1800415
NM_000275.3(OCA2):c.913C>T (p.Arg305Trp) rs1800401
NM_000276.4(OCRL):c.41C>T (p.Thr14Ile) rs61752970
NM_000277.3(PAH):c.1242C>T (p.Tyr414=) rs1801152
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968
NM_000280.4(PAX6):c.-129+9G>A rs56139994
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359
NM_000282.4(PCCA):c.24A>G (p.Thr8=) rs117397004
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224
NM_000287.4(PEX6):c.2936C>T (p.Ala979Val) rs115180949
NM_000287.4(PEX6):c.813G>T (p.Ala271=) rs35503676
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507
NM_000289.6(PFKM):c.747+24T>G rs149600978
NM_000292.3(PHKA2):c.112G>C (p.Glu38Gln) rs17313469
NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val) rs143732206
NM_000292.3(PHKA2):c.742A>C (p.Arg248=) rs149219369
NM_000293.3(PHKB):c.1127-14A>G rs185628131
NM_000293.3(PHKB):c.1459-9G>T rs201995780
NM_000293.3(PHKB):c.2244C>G (p.Leu748=) rs34717357
NM_000293.3(PHKB):c.2309A>G (p.Tyr770Cys) rs16945474
NM_000293.3(PHKB):c.318T>C (p.Asp106=) rs17738933
NM_000294.3(PHKG2):c.96-10G>T rs74015042
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896
NM_000297.4(PKD2):c.1549-4T>C rs374450718
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) rs2234917
NM_000297.4(PKD2):c.2420G>A (p.Arg807Gln) rs147654263
NM_000297.4(PKD2):c.570G>T (p.Ala190=) rs541702320
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756
NM_000303.3(PMM2):c.324G>A (p.Ala108=) rs62031146
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285
NM_000310.3(PPT1):c.401T>C (p.Ile134Thr) rs1800205
NM_000310.3(PPT1):c.837G>C (p.Gln279His) rs72937434
NM_000312.3(PROC):c.-50A>T rs1799810
NM_000312.3(PROC):c.768T>C (p.Asp256=) rs5937
NM_000313.3(PROS1):c.1501T>C (p.Ser501Pro) rs121918472
NM_000314.7(PTEN):c.1197A>G (p.Gln399=) rs374684043
NM_000314.7(PTEN):c.132C>T (p.Gly44=) rs150651961
NM_000314.7(PTEN):c.210-39A>G rs370918174
NM_000314.8(PTEN):c.165-24TTTG[2] rs786204877
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.8(PTEN):c.78C>T (p.Thr26=) rs786201280
NM_000321.2(RB1):c.1216-29A>G rs3092886
NM_000321.2(RB1):c.1390-11A>G rs200658795
NM_000321.2(RB1):c.380+12T>C rs3092881
NM_000321.3(RB1):c.920C>T (p.Thr307Ile) rs183898408
NM_000322.5(PRPH2):c.1013A>G (p.Asp338Gly) rs434102
NM_000325.6(PITX2):c.618T>G (p.Ser206=) rs35946364
NM_000328.3(RPGR):c.141T>G (p.Ser47=) rs62638631
NM_000328.3(RPGR):c.732G>A (p.Lys244=) rs62638654
NM_000328.3(RPGR):c.905G>C (p.Cys302Ser) rs62640590
NM_000330.3(RS1):c.576C>T (p.Pro192=) rs186334493
NM_000334.4(SCN4A):c.1100+7G>A rs200770684
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=) rs16947296
NM_000334.4(SCN4A):c.1606+20G>A rs73326363
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=) rs76894284
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884
NM_000334.4(SCN4A):c.2631T>C (p.Asp877=) rs79893125
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr) rs41280102
NM_000334.4(SCN4A):c.2722G>A (p.Glu908Lys) rs117664682
NM_000334.4(SCN4A):c.2919C>T (p.Pro973=) rs73992419
NM_000334.4(SCN4A):c.2989+5G>A rs115695396
NM_000334.4(SCN4A):c.3441+7G>A rs142270113
NM_000334.4(SCN4A):c.366C>T (p.Arg122=) rs41280108
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.483-9C>A rs201552497
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952
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.3575G>A (p.Arg1192Gln) rs41261344
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=) rs45548237
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.5(SCN5A):c.717C>T (p.Ile239=) rs41285129
NM_000336.3(SCNN1B):c.1543-17C>T rs35074083
NM_000336.3(SCNN1B):c.1731C>T (p.Thr577=) rs61759923
NM_000336.3(SCNN1B):c.1782G>A (p.Thr594=) rs13306628
NM_000337.5(SGCD):c.213G>A (p.Arg71=) rs74846539
NM_000337.5(SGCD):c.290G>A (p.Arg97Gln) rs45559835
NM_000337.5(SGCD):c.294+8T>C rs11748588
NM_000337.5(SGCD):c.3+19C>T rs182715924
NM_000337.5(SGCD):c.699+13_699+15del rs397517924
NM_000337.5(SGCD):c.69C>T (p.Tyr23=) rs397517923
NM_000338.3(SLC12A1):c.2873T>C (p.Val958Ala) rs1552311
NM_000340.2(SLC2A2):c.1437C>T (p.Phe479=) rs5398
NM_000340.2(SLC2A2):c.301G>A (p.Val101Ile) rs1800572
NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile) rs5400
NM_000340.2(SLC2A2):c.594G>A (p.Thr198=) rs5404
NM_000340.2(SLC2A2):c.661C>T (p.Leu221=) rs5405
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu) rs2285644
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654
NM_000350.3(ABCA4):c.1268A>G (p.His423Arg) rs3112831
NM_000350.3(ABCA4):c.1269C>T (p.His423=) rs4147831
NM_000350.3(ABCA4):c.1937+15C>T rs774567553
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581
NM_000350.3(ABCA4):c.3285C>T (p.Tyr1095=) rs570745701
NM_000350.3(ABCA4):c.3582C>A (p.Asp1194Glu) rs886038285
NM_000350.3(ABCA4):c.4203C>A (p.Pro1401=) rs1801666
NM_000350.3(ABCA4):c.4203C>T (p.Pro1401=) rs1801666
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) rs1801574
NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) rs4147857
NM_000350.3(ABCA4):c.5836-11G>A rs1800739
NM_000350.3(ABCA4):c.5843C>T (p.Pro1948Leu) rs56142141
NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) rs2275029
NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=) rs1801359
NM_000350.3(ABCA4):c.6282+7G>A rs17110761
NM_000350.3(ABCA4):c.635G>A (p.Arg212His) rs6657239
NM_000350.3(ABCA4):c.6529G>A (p.Asp2177Asn) rs1800555
NM_000350.3(ABCA4):c.6730-19G>A rs375179475
NM_000350.3(ABCA4):c.6732G>A (p.Val2244=) rs77293072
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652
NM_000352.6(ABCC8):c.-8G>T rs200091822
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=) rs60824529
NM_000352.6(ABCC8):c.1686C>T (p.His562=) rs1799857
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=) rs75376282
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=) rs1799858
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=) rs1801261
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=) rs1805036
NM_000352.6(ABCC8):c.2538C>T (p.His846=) rs73423037
NM_000352.6(ABCC8):c.330C>T (p.Ala110=) rs8192695
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=) rs1799859
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.4728C>T (p.Phe1576=) rs73419228
NM_000356.4(TCOF1):c.1347C>T (p.Pro449=) rs2071238
NM_000356.4(TCOF1):c.1530G>T (p.Gly510=) rs7701163
NM_000356.4(TCOF1):c.1611A>G (p.Ser537=) rs2071239
NM_000356.4(TCOF1):c.162A>G (p.Gln54=) rs73270831
NM_000356.4(TCOF1):c.1762G>C (p.Ala588Pro) rs2071240
NM_000356.4(TCOF1):c.2014C>T (p.Pro672Ser) rs73270846
NM_000356.4(TCOF1):c.2429T>C (p.Val810Ala) rs7713638
NM_000356.4(TCOF1):c.2534C>T (p.Ser845Leu) rs114689020
NM_000356.4(TCOF1):c.3296C>G (p.Pro1099Arg) rs1136103
NM_000356.4(TCOF1):c.3370-3C>T rs11743855
NM_000356.4(TCOF1):c.3938C>T (p.Ala1313Val) rs15251
NM_000356.4(TCOF1):c.4061G>C (p.Gly1354Ala) rs45491898
NM_000359.3(TGM1):c.125C>A (p.Ser42Tyr) rs41295338
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232
NM_000360.4(TH):c.1200+9C>T rs11564717
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471
NM_000360.4(TH):c.342G>A (p.Glu114=) rs886038763
NM_000363.5(TNNI3):c.-35C>A rs3729707
NM_000363.5(TNNI3):c.150+13G>A rs73617692
NM_000363.5(TNNI3):c.198G>A (p.Glu66=) rs3729710
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401
NM_000363.5(TNNI3):c.25-8T>A rs3729836
NM_000363.5(TNNI3):c.373-10= rs7252610
NM_000363.5(TNNI3):c.550-10C>T rs201240150
NM_000368.4(TSC1):c.-7C>T rs62621221
NM_000368.4(TSC1):c.1079C>A (p.Thr360Asn) rs118203493
NM_000368.4(TSC1):c.1208C>T (p.Ser403Leu) rs118203504
NM_000368.4(TSC1):c.1218C>T (p.Tyr406=) rs373465241
NM_000368.4(TSC1):c.1773G>A (p.Pro591=) rs146578402
NM_000368.4(TSC1):c.201A>G (p.Pro67=) rs371555137
NM_000368.4(TSC1):c.210+33G>A rs118203350
NM_000368.4(TSC1):c.250G>A (p.Ala84Thr) rs118203357
NM_000368.4(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742
NM_000368.4(TSC1):c.379G>A (p.Val127Ile) rs372215435
NM_000368.4(TSC1):c.552G>C (p.Val184=) rs118203397
NM_000368.4(TSC1):c.615T>C (p.Ser205=) rs118203414
NM_000368.4(TSC1):c.810A>G (p.Ser270=) rs142336706
NM_000368.4(TSC1):c.915G>C (p.Gly305=) rs397515293
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) rs7862221
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.2646C>T (p.Ala882=) rs118203720
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995
NM_000368.5(TSC1):c.3324C>T rs35593170
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123
NM_000371.3(TTR):c.336+19G>A rs75517067
NM_000372.5(TYR):c.114G>A (p.Pro38=) rs1939261
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602
NM_000373.4(UMPS):c.638G>C (p.Gly213Ala) rs1801019
NM_000377.2(WAS):c.1299G>A (p.Ala433=) rs372649110
NM_000377.2(WAS):c.273+10_273+11dup rs58371799
NM_000377.2(WAS):c.995T>C (p.Val332Ala) rs2737799
NM_000379.4(XDH):c.3276+12A>G rs1366813
NM_000383.4(AIRE):c.1095+6G>A rs1800525
NM_000383.4(AIRE):c.1197T>C (p.Ala399=) rs1800521
NM_000383.4(AIRE):c.1411C>T (p.Arg471Cys) rs74203920
NM_000383.4(AIRE):c.1567-5C>T rs192215705
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.681C>T (p.Gly227=) rs1055311
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg) rs1800520
NM_000383.4(AIRE):c.99T>C (p.Ala33=) rs3746964
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)
NM_000384.3(APOB):c.12541G>A (p.Glu4181Lys)
NM_000384.3(APOB):c.13013G>A (p.Ser4338Asn)
NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)
NM_000384.3(APOB):c.1594C>T (p.Arg532Trp)
NM_000384.3(APOB):c.1853C>T (p.Ala618Val)
NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])
NM_000384.3(APOB):c.293C>T (p.Thr98Ile)
NM_000384.3(APOB):c.3337G>C (p.Asp1113His)
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser)
NM_000384.3(APOB):c.6936_6937inv (p.Ile2313Val)
NM_000384.3(APOB):c.7545C>T (p.Thr2515=) rs693
NM_000384.3(APOB):c.7612C>T (p.Leu2538=) rs72653093
NM_000384.3(APOB):c.7696G>A (p.Glu2566Lys) rs1801696
NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu)
NM_000384.3(APOB):c.8462C>T (p.Pro2821Leu) rs72653095
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
NM_000388.4(CASR):c.1285C>T (p.His429Tyr) rs142818334
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894
NM_000388.4(CASR):c.2956G>T (p.Ala986Ser) rs1801725
NM_000391.4(TPP1):c.1044C>T (p.Ala348=) rs35706972
NM_000391.4(TPP1):c.1266+5G>A rs1800753
NM_000391.4(TPP1):c.1494C>T (p.Pro498=) rs117942457
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746
NM_000391.4(TPP1):c.381-10dup rs146315473
NM_000391.4(TPP1):c.441A>G (p.Glu147=) rs2555170
NM_000391.4(TPP1):c.688-18C>T rs376868997
NM_000393.5(COL5A2):c.1006-9C>T rs73978832
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000
NM_000393.5(COL5A2):c.1104+15T>C rs75486409
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu) rs115570272
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala) rs35852101
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879
NM_000393.5(COL5A2):c.2032-7G>A rs141571092
NM_000393.5(COL5A2):c.2492G>C (p.Gly831Ala) rs141210030
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748
NM_000393.5(COL5A2):c.249C>T (p.Ala83=) rs142388534
NM_000393.5(COL5A2):c.2554-14A>G rs142429770
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780
NM_000393.5(COL5A2):c.2770-15del rs577038385
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu) rs75542756
NM_000393.5(COL5A2):c.3201+14C>T rs368713290
NM_000393.5(COL5A2):c.322+8T>C rs372227642
NM_000393.5(COL5A2):c.33C>T (p.Leu11=) rs140108893
NM_000393.5(COL5A2):c.3471+8A>T rs367643805
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=) rs10197596
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525
NM_000393.5(COL5A2):c.403-3T>C rs369733690
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=) rs146100075
NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=) rs142544320
NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=) rs78905646
NM_000393.5(COL5A2):c.568-10G>A rs58106884
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501
NM_000393.5(COL5A2):c.852+14C>T rs56310996
NM_000393.5(COL5A2):c.975C>T (p.Pro325=) rs144344474
NM_000393.5(COL5A2):c.98-12T>G rs117917418
NM_000399.5(EGR2):c.1086A>C (p.Arg362=) rs45602133
NM_000401.3(EXT2):c.1687G>A (p.Glu563Lys) rs148711133
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) rs7637099
NM_000404.4(GLB1):c.34T>C (p.Leu12=) rs7614776
NM_000407.4(GP1BB):c.399C>T (p.Ala133=) rs142352780
NM_000409.4(GUCA1A):c.567C>T (p.Asp189=) rs34925828
NM_000410.3(HFE):c.340+4T>C rs2071303
NM_000414.4(HSD17B4):c.1210-8T>C rs34254740
NM_000414.4(HSD17B4):c.1767+8T>C rs190659146
NM_000414.4(HSD17B4):c.666C>G (p.Val222=) rs150677536
NM_000419.5(ITGA2B):c.2621T>G (p.Ile874Ser) rs5911
NM_000424.4(KRT5):c.30G>A (p.Arg10=) rs61747182
NM_000426.3(LAMA2):c.1206+11C>T rs115007959
NM_000426.3(LAMA2):c.1403C>G (p.Ala468Gly) rs111695726
NM_000426.3(LAMA2):c.1491T>C (p.Cys497=) rs2306220
NM_000426.3(LAMA2):c.1533T>C (p.Asn511=) rs9492266
NM_000426.3(LAMA2):c.1634T>A (p.Leu545Gln) rs118083923
NM_000426.3(LAMA2):c.1701C>T (p.Ile567=) rs111381107
NM_000426.3(LAMA2):c.1782+14T>C rs191215452
NM_000426.3(LAMA2):c.1798G>A (p.Gly600Arg) rs36044314
NM_000426.3(LAMA2):c.1930C>G (p.His644Asp) rs35879899
NM_000426.3(LAMA2):c.2323-18T>A rs199846930
NM_000426.3(LAMA2):c.2476C>T (p.Arg826Trp) rs118147866
NM_000426.3(LAMA2):c.2736G>A (p.Ala912=) rs142671449
NM_000426.3(LAMA2):c.2756G>T (p.Arg919Leu) rs35277491
NM_000426.3(LAMA2):c.3556-15T>G rs17741922
NM_000426.3(LAMA2):c.3597T>C (p.Asp1199=) rs199904029
NM_000426.3(LAMA2):c.3613A>G (p.Thr1205Ala) rs35889149
NM_000426.3(LAMA2):c.411G>A (p.Ala137=) rs149347601
NM_000426.3(LAMA2):c.4437-5T>A rs41285288
NM_000426.3(LAMA2):c.4470C>T (p.Asp1490=) rs35089085
NM_000426.3(LAMA2):c.4750G>A (p.Gly1584Ser) rs117781224
NM_000426.3(LAMA2):c.4935C>A (p.Thr1645=) rs35579821
NM_000426.3(LAMA2):c.5121C>T (p.Asp1707=) rs151199929
NM_000426.3(LAMA2):c.5280G>A (p.Glu1760=) rs376693904
NM_000426.3(LAMA2):c.5530C>A (p.Arg1844Ser) rs56173620
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.6649G>A (p.Val2217Ile) rs147857398
NM_000426.3(LAMA2):c.675C>T (p.Ala225=) rs139665175
NM_000426.3(LAMA2):c.7395T>C (p.Asp2465=) rs140483001
NM_000426.3(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843
NM_000426.3(LAMA2):c.8028T>C (p.Asn2676=) rs35313209
NM_000426.3(LAMA2):c.8124T>A (p.Gly2708=) rs34997144
NM_000426.3(LAMA2):c.8528A>G (p.Asn2843Ser) rs73599293
NM_000426.3(LAMA2):c.8548-10T>C rs113644365
NM_000426.3(LAMA2):c.8586T>C (p.Tyr2862=) rs142451929
NM_000426.3(LAMA2):c.8989-12C>G rs144860334
NM_000426.3(LAMA2):c.9123C>T (p.Val3041=) rs61749497
NM_000426.3(LAMA2):c.9211+6T>C rs201375881
NM_000428.3(LTBP2):c.4905G>C (p.Leu1635=) rs144520047
NM_000430.4(PAFAH1B1):c.118-14T>C rs147692085
NM_000430.4(PAFAH1B1):c.568+27C>T rs3213696
NM_000431.4(MVK):c.155G>A (p.Ser52Asn) rs7957619
NM_000431.4(MVK):c.405G>A (p.Ser135=) rs34368092
NM_000431.4(MVK):c.510C>T (p.Asp170=) rs2287218
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042
NM_000433.3(NCF2):c.1001-10T>G rs36113295
NM_000435.3(NOTCH3):c.120C>G (p.Ala40=) rs146904189
NM_000435.3(NOTCH3):c.2300G>A (p.Arg767His) rs75291244
NM_000435.3(NOTCH3):c.2411-4C>G rs190177286
NM_000435.3(NOTCH3):c.4044C>T (p.Gly1348=) rs78926093
NM_000435.3(NOTCH3):c.4191G>T (p.Gly1397=) rs886038299
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met) rs141320511
NM_000435.3(NOTCH3):c.4679G>C (p.Arg1560Pro) rs78501403
NM_000435.3(NOTCH3):c.6031G>A (p.Val2011Ile) rs142007575
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636
NM_000443.4(ABCB4):c.1893+6T>C rs8187798
NM_000443.4(ABCB4):c.2395-19C>T rs45593648
NM_000443.4(ABCB4):c.3381C>T (p.Ala1127=) rs766402494
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559
NM_000451.3(SHOX):c.63C>T (p.Gly21=) rs142306835
NM_000451.3(SHOX):c.870G>A (p.Leu290=) rs746391025
NM_000455.4(STK11):c.*8C>T rs587782259
NM_000455.4(STK11):c.-2G>T rs774072752
NM_000455.4(STK11):c.1109-4C>T rs1407794756
NM_000455.4(STK11):c.1185A>G (p.Thr395=) rs370207155
NM_000455.4(STK11):c.1194G>A (p.Ala398=) rs184271025
NM_000455.4(STK11):c.369G>A (p.Gln123=) rs140112347
NM_000455.4(STK11):c.374+11C>T rs368923696
NM_000455.4(STK11):c.375-7G>A rs587781176
NM_000455.4(STK11):c.426C>T (p.Ser142=) rs758448869
NM_000455.4(STK11):c.465-18G>T rs587781177
NM_000455.4(STK11):c.795G>A (p.Glu265=) rs730881963
NM_000455.4(STK11):c.920+7G>A rs2075607
NM_000455.4(STK11):c.920+7G>C rs2075607
NM_000455.4(STK11):c.921-9C>T rs761688641
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204
NM_000455.5(STK11):c.465-4G>A rs587780009
NM_000455.5(STK11):c.894C>A (p.Phe298Leu) rs199681533
NM_000457.4(HNF4A):c.116-5C>T rs745975
NM_000457.4(HNF4A):c.1203C>T (p.Asn401=) rs61737145
NM_000457.4(HNF4A):c.150G>A (p.Ala50=) rs41282026
NM_000457.4(HNF4A):c.810C>T (p.Asp270=) rs6031592
NM_000457.5(HNF4A):c.416C>T (p.Thr139Ile) rs1800961
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=) rs140781855
NM_000458.4(HNF1B):c.750C>T (p.Tyr250=) rs144249535
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser) rs28997576
NM_000465.4(BARD1):c.1738G>A (p.Glu580Lys) rs35306212
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly) rs76744638
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101
NM_000465.4(BARD1):c.253G>T (p.Val85Leu) rs370359540
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn) rs369561166
NM_000465.4(BARD1):c.609A>C (p.Gly203=) rs28997574
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg) rs34969857
NM_000466.3(PEX1):c.-53C>G rs12386703
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982
NM_000478.6(ALPL):c.744C>T (p.Asp248=) rs188689330
NM_000481.4(AMT):c.354G>A (p.Leu118=) rs145194293
NM_000486.5(AQP2):c.345C>T (p.Asp115=) rs60629501
NM_000486.5(AQP2):c.39G>A (p.Val13=) rs61733029
NM_000487.6(ARSA):c.*96A>G rs6151429
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421
NM_000487.6(ARSA):c.1149C>T (p.Asp383=) rs6151425
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616
NM_000487.6(ARSA):c.636C>T (p.Ala212=) rs200182983
NM_000488.3(SERPINC1):c.1246G>T (p.Ala416Ser) rs121909548
NM_000489.5(ATRX):c.4659T>C (p.His1553=) rs25641
NM_000492.3(CFTR):c.1365G>A (p.Ala455=) rs79074685
NM_000492.3(CFTR):c.1516A>G (p.Ile506Val) rs1800091
NM_000492.3(CFTR):c.1584+12T>C rs193922502
NM_000492.3(CFTR):c.1920T>C (p.Phe640=) rs145877746
NM_000492.3(CFTR):c.2245C>T (p.Leu749=) rs151235408
NM_000492.3(CFTR):c.2620-15C>G rs139379077
NM_000492.3(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112
NM_000492.3(CFTR):c.3469-17T>C rs199630678
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.3(CFTR):c.3558A>G (p.Gln1186=) rs1800121
NM_000492.3(CFTR):c.4243-5C>T rs114402068
NM_000492.3(CFTR):c.4272C>T (p.Tyr1424=) rs1800135
NM_000492.3(CFTR):c.744-33GATT[8] rs1805171
NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) rs1800073
NM_000492.4(CFTR):c.-8G>C rs1800501
NM_000492.4(CFTR):c.1408G>A (p.Val470Met) rs213950
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys) rs74571530
NM_000492.4(CFTR):c.1581A>G (p.Glu527=) rs1800094
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202
NM_000492.4(CFTR):c.2562T>G (p.Thr854=) rs1042077
NM_000492.4(CFTR):c.274-6T>C rs371315549
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=) rs1800130
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131
NM_000492.4(CFTR):c.4242+13A>G rs76179227
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=) rs1800136
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286
NM_000506.4(F2):c.1824C>T (p.Arg608=) rs3136532
NM_000512.5(GALNS):c.633+22T>C rs201579340
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502
NM_000520.6(HEXA):c.1527-6T>C rs199914308
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970
NM_000520.6(HEXA):c.759G>A (p.Val253=) rs117513345
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428
NM_000521.4(HEXB):c.1614-14C>A rs201448394
NM_000521.4(HEXB):c.445+1G>C rs761197472
NM_000521.4(HEXB):c.619A>G (p.Ile207Val) rs10805890
NM_000525.3(KCNJ11):c.108G>A (p.Val36=) rs112070496
NM_000525.3(KCNJ11):c.1095C>T (p.Arg365=) rs143276279
NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) rs5219
NM_000525.3(KCNJ11):c.843C>T (p.Leu281=) rs116392938
NM_000526.5(KRT14):c.202G>A (p.Gly68Ser) rs142137272
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1725C>T (p.Leu575=) rs1799898
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser) rs35836657
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328
NM_000533.5(PLP1):c.609T>C (p.Asp203=) rs1126707
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014
NM_000535.7(PMS2):c.1209C>T (p.Ser403=) rs147399413
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323
NM_000535.7(PMS2):c.1467G>A (p.Glu489=) rs542522853
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1688_1689delinsAG (p.Arg563Gln) rs587780725
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324
NM_000535.7(PMS2):c.2127C>T (p.Phe709=) rs199943748
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535
NM_000535.7(PMS2):c.23+10G>C rs192027828
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683
NM_000535.7(PMS2):c.353+6A>G rs376449640
NM_000535.7(PMS2):c.353+9A>C rs139990791
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120
NM_000535.7(PMS2):c.765C>T (p.Tyr255=) rs573125799
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004
NM_000540.2(RYR1):c.10097G>A (p.Arg3366His) rs137932199
NM_000540.2(RYR1):c.10119G>A (p.Val3373=) rs140689610
NM_000540.2(RYR1):c.10259+7G>A rs143752962
NM_000540.2(RYR1):c.10347+1G>A rs111436401
NM_000540.2(RYR1):c.10501dup (p.Asp3501fs) rs1568537774
NM_000540.2(RYR1):c.10578G>A (p.Ala3526=) rs368360689
NM_000540.2(RYR1):c.10627-1G>C rs1568539909
NM_000540.2(RYR1):c.10937+39G>A rs2945049
NM_000540.2(RYR1):c.10938-17A>G rs181147531
NM_000540.2(RYR1):c.10941C>G (p.His3647Gln) rs114351116
NM_000540.2(RYR1):c.11034+20G>T rs186460831
NM_000540.2(RYR1):c.1123-11C>T rs3745845
NM_000540.2(RYR1):c.11360-9T>A rs150187840
NM_000540.2(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986
NM_000540.2(RYR1):c.11929C>T (p.Gln3977Ter) rs1447117024
NM_000540.2(RYR1):c.11941C>T (p.His3981Tyr) rs148772854
NM_000540.2(RYR1):c.11958C>G (p.Asp3986Glu) rs193922842
NM_000540.2(RYR1):c.1198G>A (p.Ala400Thr) rs777016690
NM_000540.2(RYR1):c.12083C>T (p.Ser4028Leu) rs794728696
NM_000540.2(RYR1):c.1211A>G (p.His404Arg) rs561546643
NM_000540.2(RYR1):c.12283-7C>T rs143861818
NM_000540.2(RYR1):c.122T>C (p.Phe41Ser) rs766407858
NM_000540.2(RYR1):c.12499G>T (p.Glu4167Ter) rs772494345
NM_000540.2(RYR1):c.12588C>T (p.Ile4196=) rs61739895
NM_000540.2(RYR1):c.12727G>A (p.Glu4243Lys) rs1555799628
NM_000540.2(RYR1):c.12869C>T (p.Ala4290Val) rs755065800
NM_000540.2(RYR1):c.12879G>C (p.Ala4293=) rs193922854
NM_000540.2(RYR1):c.12880A>G (p.Thr4294Ala) rs1003914966
NM_000540.2(RYR1):c.12881C>T (p.Thr4294Met) rs587784372
NM_000540.2(RYR1):c.12884C>T (p.Ala4295Val) rs193922855
NM_000540.2(RYR1):c.12956G>A (p.Arg4319Gln) rs539194350
NM_000540.2(RYR1):c.12990C>T (p.Thr4330=) rs184450380
NM_000540.2(RYR1):c.131G>A (p.Arg44His) rs139161723
NM_000540.2(RYR1):c.13369A>T (p.Met4457Leu) rs867851900
NM_000540.2(RYR1):c.13498G>A (p.Glu4500Lys) rs752192756
NM_000540.2(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023
NM_000540.2(RYR1):c.13660-10T>C rs188836987
NM_000540.2(RYR1):c.13724A>C (p.Asn4575Thr) rs1568591803
NM_000540.2(RYR1):c.13909A>G (p.Thr4637Ala) rs118192166
NM_000540.2(RYR1):c.13919T>G (p.Met4640Arg) rs1568594068
NM_000540.2(RYR1):c.14061G>A (p.Leu4687=) rs201629205
NM_000540.2(RYR1):c.14126C>T (p.Thr4709Met) rs118192140
NM_000540.2(RYR1):c.14130-8C>G rs140808099
NM_000540.2(RYR1):c.14130-9T>G rs191894192
NM_000540.2(RYR1):c.14210G>A (p.Arg4737Gln) rs193922868
NM_000540.2(RYR1):c.14257G>A (p.Ala4753Thr) rs138156449
NM_000540.2(RYR1):c.14270G>A (p.Arg4757His) rs768360593
NM_000540.2(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.2(RYR1):c.14471T>C (p.Leu4824Pro) rs193922874
NM_000540.2(RYR1):c.14505G>A (p.Gly4835=) rs118126378
NM_000540.2(RYR1):c.14524G>A rs193922879
NM_000540.2(RYR1):c.1453A>G (p.Met485Val) rs147723844
NM_000540.2(RYR1):c.14555A>G (p.Tyr4852Cys) rs886042826
NM_000540.2(RYR1):c.14558C>T (p.Thr4853Ile) rs1555803922
NM_000540.2(RYR1):c.14589C>T (p.Phe4863=) rs146072491
NM_000540.2(RYR1):c.14642T>C (p.Met4881Thr) rs1568605367
NM_000540.2(RYR1):c.14645C>T rs193922884
NM_000540.2(RYR1):c.14678G>A (p.Arg4893Gln) rs118192151
NM_000540.2(RYR1):c.14801A>G (p.Gln4934Arg) rs1568611775
NM_000540.2(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158
NM_000540.2(RYR1):c.15015G>A (p.Thr5005=) rs2229149
NM_000540.2(RYR1):c.15016G>A (p.Gly5006Ser) rs1568614042
NM_000540.2(RYR1):c.178G>A (p.Asp60Asn) rs118192160
NM_000540.2(RYR1):c.1909A>G (p.Ile637Val) rs567084532
NM_000540.2(RYR1):c.1923C>G (p.Thr641=) rs116591968
NM_000540.2(RYR1):c.2091C>T (p.Ala697=) rs138704724
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.2199G>C (p.Gly733=) rs749285937
NM_000540.2(RYR1):c.2319C>T (p.Asp773=) rs374924686
NM_000540.2(RYR1):c.2415T>C (p.Pro805=) rs141881325
NM_000540.2(RYR1):c.2488C>T (p.Arg830Trp) rs142548565
NM_000540.2(RYR1):c.2545G>A (p.Asp849Asn) rs200893443
NM_000540.2(RYR1):c.2603G>A (p.Arg868His) rs750938678
NM_000540.2(RYR1):c.2622G>A (p.Ala874=) rs149381996
NM_000540.2(RYR1):c.2682+7G>A rs201498416
NM_000540.2(RYR1):c.2682G>A (p.Pro894=) rs919322708
NM_000540.2(RYR1):c.271-7C>G rs192495718
NM_000540.2(RYR1):c.2797G>A (p.Ala933Thr) rs148623597
NM_000540.2(RYR1):c.2919C>T (p.His973=) rs139363830
NM_000540.2(RYR1):c.2933C>T (p.Pro978Leu) rs200124278
NM_000540.2(RYR1):c.2989C>T (p.Arg997Ter) rs758925580
NM_000540.2(RYR1):c.3042G>A (p.Ala1014=) rs2228074
NM_000540.2(RYR1):c.3111C>T (p.Ser1037=) rs145434723
NM_000540.2(RYR1):c.328C>T (p.His110Tyr) rs767777113
NM_000540.2(RYR1):c.3326G>A (p.Arg1109Lys) rs35719391
NM_000540.2(RYR1):c.3381C>T (p.Arg1127=) rs200780880
NM_000540.2(RYR1):c.3505A>C (p.Met1169Leu) rs139069946
NM_000540.2(RYR1):c.3557-6C>T rs139849689
NM_000540.2(RYR1):c.3800C>G (p.Pro1267Arg) rs150495044
NM_000540.2(RYR1):c.3876C>A (p.Leu1292=) rs143750836
NM_000540.2(RYR1):c.3924G>C (p.Pro1308=) rs144350050
NM_000540.2(RYR1):c.3972G>A (p.Ala1324=) rs200451188
NM_000540.2(RYR1):c.4055C>G (p.Ala1352Gly) rs112105381
NM_000540.2(RYR1):c.4071C>T (p.Pro1357=) rs375709463
NM_000540.2(RYR1):c.4088C>T (p.Ala1363Val) rs774603798
NM_000540.2(RYR1):c.4115C>T (p.Ala1372Val) rs370966353
NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390
NM_000540.2(RYR1):c.4294-4C>T rs368108496
NM_000540.2(RYR1):c.46-5C>T rs774388278
NM_000540.2(RYR1):c.4758G>A (p.Pro1586=) rs374222028
NM_000540.2(RYR1):c.4878C>T (p.Ala1626=) rs369466056
NM_000540.2(RYR1):c.4894C>T (p.Pro1632Ser) rs76537615
NM_000540.2(RYR1):c.4911G>A (p.Ala1637=) rs370350821
NM_000540.2(RYR1):c.4971C>T (p.Asp1657=) rs141107290
NM_000540.2(RYR1):c.4980C>T (p.Arg1660=) rs374115286
NM_000540.2(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950
NM_000540.2(RYR1):c.5037C>G (p.Arg1679=) rs34169029
NM_000540.2(RYR1):c.5120G>A (p.Arg1707His) rs371566475
NM_000540.2(RYR1):c.528G>T (p.Glu176Asp) rs1568436081
NM_000540.2(RYR1):c.5317C>T (p.Pro1773Ser) rs192863857
NM_000540.2(RYR1):c.5322G>A (p.Pro1774=) rs572516017
NM_000540.2(RYR1):c.5364T>G (p.Ala1788=) rs200950362
NM_000540.2(RYR1):c.5493G>T (p.Gly1831=) rs140004449
NM_000540.2(RYR1):c.5548-19C>G rs375020048
NM_000540.2(RYR1):c.5634G>C (p.Glu1878Asp) rs114203198
NM_000540.2(RYR1):c.6023T>C (p.Met2008Thr) rs199947661
NM_000540.2(RYR1):c.6127+1G>A rs1283302989
NM_000540.2(RYR1):c.6127+3A>G rs78851466
NM_000540.2(RYR1):c.6251G>A (p.Arg2084Gln) rs143681974
NM_000540.2(RYR1):c.6274+1G>A rs1226228092
NM_000540.2(RYR1):c.6302T>A (p.Met2101Lys) rs746818096
NM_000540.2(RYR1):c.6384C>T (p.Tyr2128=) rs75181912
NM_000540.2(RYR1):c.6546C>T (p.Ile2182=) rs768963605
NM_000540.2(RYR1):c.6584C>T (p.Pro2195Leu) rs772003357
NM_000540.2(RYR1):c.6599C>T (p.Ala2200Val) rs193922791
NM_000540.2(RYR1):c.6612C>T (p.His2204=) rs141646642
NM_000540.2(RYR1):c.6654C>T (p.Gly2218=) rs149185729
NM_000540.2(RYR1):c.6721C>T rs200563280
NM_000540.2(RYR1):c.6732G>A (p.Arg2244=) rs78915828
NM_000540.2(RYR1):c.6757C>T (p.His2253Tyr) rs917523269
NM_000540.2(RYR1):c.6797-50A>G rs34812626
NM_000540.2(RYR1):c.7026C>T (p.Asn2342=) rs202061237
NM_000540.2(RYR1):c.725+6G>A rs201679831
NM_000540.2(RYR1):c.7281C>T (p.Ala2427=) rs77310009
NM_000540.2(RYR1):c.7433C>A (p.Thr2478Asn) rs141298868
NM_000540.2(RYR1):c.7463_7475del (p.Pro2488fs) rs794727683
NM_000540.2(RYR1):c.7522C>T (p.Arg2508Cys) rs118192178
NM_000540.2(RYR1):c.7584C>G (p.Pro2528=) rs1465698
NM_000540.2(RYR1):c.7615-20G>A rs746763718
NM_000540.2(RYR1):c.7615-5C>T rs768008924
NM_000540.2(RYR1):c.7615-7G>A rs146159174
NM_000540.2(RYR1):c.7737G>A (p.Val2579=) rs114975624
NM_000540.2(RYR1):c.7836-17T>C rs142720065
NM_000540.2(RYR1):c.7860G>A (p.Gln2620=) rs147587000
NM_000540.2(RYR1):c.7923C>G (p.Leu2641=) rs142558977
NM_000540.2(RYR1):c.8068-14C>T rs57376136
NM_000540.2(RYR1):c.8073C>T (p.Tyr2691=) rs202160739
NM_000540.2(RYR1):c.821G>A (p.Arg274His) rs368711923
NM_000540.2(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584
NM_000540.2(RYR1):c.8361C>T (p.Thr2787=) rs77216903
NM_000540.2(RYR1):c.8376G>A (p.Arg2792=) rs150388417
NM_000540.2(RYR1):c.8598C>T (p.Thr2866=) rs538250432
NM_000540.2(RYR1):c.8616+7G>A rs200023171
NM_000540.2(RYR1):c.8827G>A (p.Asp2943Asn) rs79294840
NM_000540.2(RYR1):c.89A>T (p.Glu30Val) rs145771708
NM_000540.2(RYR1):c.9063G>A (p.Pro3021=) rs200068725
NM_000540.2(RYR1):c.906C>T (p.Asp302=) rs145943283
NM_000540.2(RYR1):c.9152G>A (p.Arg3051His) rs147303895
NM_000540.2(RYR1):c.9242T>C (p.Met3081Thr) rs147012990
NM_000540.2(RYR1):c.9262G>A (p.Val3088Met) rs145044872
NM_000540.2(RYR1):c.9355C>T (p.Arg3119Cys) rs61739911
NM_000540.2(RYR1):c.9414G>A (p.Pro3138=) rs116130182
NM_000540.2(RYR1):c.94C>T (p.Leu32Phe) rs138630815
NM_000540.2(RYR1):c.9555-7C>G rs376790946
NM_000540.2(RYR1):c.9555-9G>A rs149569999
NM_000540.2(RYR1):c.9571G>A (p.Gly3191Arg) rs756331568
NM_000540.2(RYR1):c.9605C>T (p.Pro3202Leu) rs754002399
NM_000540.2(RYR1):c.9685+16C>T rs45496799
NM_000540.2(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634
NM_000540.2(RYR1):c.97A>G (p.Lys33Glu) rs193922746
NM_000540.2(RYR1):c.9882C>T (p.Ser3294=) rs142610625
NM_000540.3(RYR1):c.10188C>T (p.Asp3396=) rs2229145
NM_000540.3(RYR1):c.1021G>A (p.Gly341Arg) rs121918592
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857
NM_000540.3(RYR1):c.10687-7C>T rs2960354
NM_000540.3(RYR1):c.11049GGA[4] (p.Glu3689del) rs760784102
NM_000540.3(RYR1):c.11314C>T rs763112609
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839
NM_000540.3(RYR1):c.12852CACGGCGGC[3] (p.4285TAA[3]) rs398123469
NM_000540.3(RYR1):c.12951GCGGCGGCT[3] (p.4318RRL[3]) rs193922846
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.3(RYR1):c.13317C>T (p.Ala4439=) rs113579185
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.13934G>A (p.Arg4645Gln) rs193922860
NM_000540.3(RYR1):c.14477C>T (p.Thr4826Ile) rs121918595
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile) rs118192168
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His) rs63749869
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610
NM_000540.3(RYR1):c.2871-5C>T rs45585535
NM_000540.3(RYR1):c.297G>A (p.Thr99=) rs144241486
NM_000540.3(RYR1):c.325C>T rs118192173
NM_000540.3(RYR1):c.3523G>A rs769744438
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605
NM_000540.3(RYR1):c.487C>T (p.Arg163Cys) rs118192161
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His) rs146504767
NM_000540.3(RYR1):c.5665GAG[2] (p.Glu1891del) rs559371263
NM_000540.3(RYR1):c.594A>G (p.Leu198=) rs2229139
NM_000540.3(RYR1):c.6487C>T (p.Arg2163Cys) rs118192175
NM_000540.3(RYR1):c.6488G>A (p.Arg2163His) rs118192163
NM_000540.3(RYR1):c.6502G>A (p.Val2168Met) rs118192176
NM_000540.3(RYR1):c.7007G>A (p.Arg2336His) rs112563513
NM_000540.3(RYR1):c.7039GAG[1] (p.Glu2348del) rs121918596
NM_000540.3(RYR1):c.7048G>A (p.Ala2350Thr) rs193922802
NM_000540.3(RYR1):c.7089C>T (p.Cys2363=) rs2228071
NM_000540.3(RYR1):c.7098C>T (p.Pro2366=) rs2229147
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593
NM_000540.3(RYR1):c.7304G>A (p.Arg2435His) rs28933396
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000540.3(RYR1):c.7361G>A (p.Arg2454His) rs118192122
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys) rs28933397
NM_000540.3(RYR1):c.742G>A (p.Gly248Arg) rs1801086
NM_000540.3(RYR1):c.7522C>G (p.Arg2508Gly) rs118192178
NM_000540.3(RYR1):c.7523G>A (p.Arg2508His) rs193922818
NM_000540.3(RYR1):c.7614+10C>G rs2960323
NM_000540.3(RYR1):c.7835+5A>G rs1469695
NM_000540.3(RYR1):c.7863C>T (p.His2621=) rs2229142
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=) rs2229144
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=) rs2960340
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=) rs2915951
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=) rs2915952
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=) rs2229146
NM_000540.3(RYR1):c.8693-10G>C rs2915958
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=) rs2071089
NM_000540.3(RYR1):c.9310G>A (p.Glu3104Lys) rs193922832
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=) rs72896268
NM_000543.5(SMPD1):c.108GCTGGC[4] (p.38AL[4]) rs3838786
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5]) rs3838786
NM_000545.6(HNF1A):c.1375C>T (p.Leu459=) rs2259820
NM_000545.6(HNF1A):c.1377G>A (p.Leu459=) rs118028009
NM_000545.6(HNF1A):c.1425G>A (p.Pro475=) rs145589373
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.1624-19G>A rs193922586
NM_000545.6(HNF1A):c.51C>G (p.Leu17=) rs1169289
NM_000545.6(HNF1A):c.79A>C (p.Ile27Leu) rs1169288
NM_000546.5(TP53):c.1014C>T (p.Phe338=) rs150293825
NM_000546.5(TP53):c.1015G>A (p.Glu339Lys) rs17882252
NM_000546.5(TP53):c.1079G>C (p.Gly360Ala) rs35993958
NM_000546.5(TP53):c.248C>T (p.Ala83Val) rs201717599
NM_000546.5(TP53):c.559+8G>A rs775915220
NM_000546.5(TP53):c.74+38C>G rs1642785
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522
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.1143G>A (p.Arg381=) rs45517155
NM_000548.5(TSC2):c.1276C>T (p.Leu426=) rs45478593
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892
NM_000548.5(TSC2):c.1292C>T (p.Ala431Val) rs202187148
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser) rs45484298
NM_000548.5(TSC2):c.1387A>G (p.Ile463Val) rs45517171
NM_000548.5(TSC2):c.148A>G (p.Met50Val) rs140618379
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729
NM_000548.5(TSC2):c.1821G>A (p.Ala607=) rs149543046
NM_000548.5(TSC2):c.1860G>A (p.Leu620=) rs45492397
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.2097+43A>G rs186681035
NM_000548.5(TSC2):c.2220+11C>T rs372555496
NM_000548.5(TSC2):c.2427C>T (p.Ser809=) rs182849638
NM_000548.5(TSC2):c.2545+26G>A rs45517242
NM_000548.5(TSC2):c.255C>T (p.Val85=) rs45517098
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626
NM_000548.5(TSC2):c.2640-13C>T rs201184637
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994
NM_000548.5(TSC2):c.2838-4A>G rs45517272
NM_000548.5(TSC2):c.2979G>A (p.Thr993=) rs45517277
NM_000548.5(TSC2):c.300G>A (p.Ala100=) rs45517100
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.336+33G>T rs45517104
NM_000548.5(TSC2):c.3610+6G>A rs45517301
NM_000548.5(TSC2):c.3610+9C>T rs45467194
NM_000548.5(TSC2):c.3744C>T (p.Ala1248=) rs45517307
NM_000548.5(TSC2):c.3815-20C>T rs201878712
NM_000548.5(TSC2):c.3883+8C>G rs45517316
NM_000548.5(TSC2):c.3884-17C>G rs45517317
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=) rs11551373
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323
NM_000548.5(TSC2):c.4195G>A (p.Gly1399Arg) rs45466399
NM_000548.5(TSC2):c.4215C>T (p.Ala1405=) rs45517331
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795
NM_000548.5(TSC2):c.4293G>A (p.Ser1431=) rs45487992
NM_000548.5(TSC2):c.4316G>A (p.Gly1439Asp) rs150397923
NM_000548.5(TSC2):c.4493+17C>T rs45517345
NM_000548.5(TSC2):c.4493+7C>A rs199943270
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575
NM_000548.5(TSC2):c.4569+46C>T rs45482793
NM_000548.5(TSC2):c.4663-16_4663-15del rs796053477
NM_000548.5(TSC2):c.482-3C>T rs1800720
NM_000548.5(TSC2):c.4968C>T (p.Asp1656=) rs182327684
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=) rs35534817
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=) rs45475501
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=) rs45483700
NM_000548.5(TSC2):c.5131G>A (p.Val1711Met) rs139779505
NM_000548.5(TSC2):c.5161-10A>C rs1800718
NM_000548.5(TSC2):c.5161-4C>G rs45517406
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=) rs1748
NM_000548.5(TSC2):c.5260-15C>T rs45517416
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=) rs1051771
NM_000548.5(TSC2):c.729C>G (p.Leu243=) rs45473698
NM_000550.3(TYRP1):c.1082-9T>C rs144041081
NM_000550.3(TYRP1):c.1500G>A (p.Leu500=) rs34060600
NM_000550.3(TYRP1):c.627T>A (p.Gly209=) rs1800374
NM_000550.3(TYRP1):c.913+9C>T rs147268542
NM_000551.3(VHL):c.-35G>A rs587780992
NM_000551.3(VHL):c.183C>G (p.Pro61=) rs63650860
NM_000551.3(VHL):c.246C>T (p.Arg82=) rs587780993
NM_000551.3(VHL):c.463+4C>T rs879253989
NM_000551.3(VHL):c.74C>T (p.Pro25Leu) rs35460768
NM_000551.4(VHL):c.150C>G (p.Ala50=) rs61751580
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000551.4(VHL):c.340+5G>C rs61758376
NM_000551.4(VHL):c.463+8C>T rs5030834
NM_000551.4(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000552.4(VWF):c.1329C>T (p.Ser443=) rs142404899
NM_000552.4(VWF):c.1451A>G (p.His484Arg) rs1800378
NM_000552.4(VWF):c.1548T>C (p.Tyr516=) rs1800379
NM_000552.4(VWF):c.2365A>G (p.Thr789Ala) rs1063856
NM_000552.4(VWF):c.2385T>C (p.Tyr795=) rs1063857
NM_000552.4(VWF):c.2451T>A (p.His817Gln) rs57950734
NM_000552.4(VWF):c.2880G>A (p.Arg960=) rs1800380
NM_000552.4(VWF):c.3426T>C (p.Cys1142=) rs535693463
NM_000552.4(VWF):c.3686T>G (p.Val1229Gly) rs61749367
NM_000552.4(VWF):c.3692A>C (p.Asn1231Thr) rs61749368
NM_000552.4(VWF):c.3789G>A (p.Ser1263=) rs199831474
NM_000552.4(VWF):c.4141A>G (p.Thr1381Ala) rs216311
NM_000552.4(VWF):c.4641T>C (p.Thr1547=) rs216310
NM_000552.4(VWF):c.5313G>T (p.Gly1771=) rs2229448
NM_000552.4(VWF):c.546G>A (p.Ser182=) rs143054357
NM_000552.4(VWF):c.6187C>T (p.Pro2063Ser) rs61750615
NM_000552.4(VWF):c.6846A>G (p.Thr2282=) rs1053523
NM_000552.4(VWF):c.7682T>A (p.Phe2561Tyr) rs35335161
NM_000553.6(WRN):c.1161G>A (p.Met387Ile) rs1800391
NM_000553.6(WRN):c.1577-3C>A rs3087409
NM_000553.6(WRN):c.1982-5del rs397723919
NM_000553.6(WRN):c.2361G>T (p.Leu787=) rs1800392
NM_000553.6(WRN):c.3138+6C>T rs3024239
NM_000553.6(WRN):c.3138+7G>A rs2737335
NM_000553.6(WRN):c.3222G>T (p.Leu1074Phe) rs1801195
NM_000553.6(WRN):c.340G>A (p.Val114Ile) rs2230009
NM_000553.6(WRN):c.4083C>T (p.Ser1361=) rs1801196
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg) rs1346044
NM_000601.6(HGF):c.1272-4A>G rs1800793
NM_000601.6(HGF):c.270T>C (p.Asp90=) rs145598174
NM_000601.6(HGF):c.333A>G (p.Glu111=) rs5745635
NM_000601.6(HGF):c.910G>A (p.Glu304Lys) rs5745687
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe) rs150441555
NM_000642.3(AGL):c.2802A>C (p.Ala934=) rs34230588
NM_000642.3(AGL):c.3260-19G>A rs140333425
NM_000642.3(AGL):c.3260-20T>C rs17121560
NM_000642.3(AGL):c.3849T>C (p.Ala1283=) rs28730706
NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu) rs1800470
NM_000702.4(ATP1A2):c.1119G>A (p.Ser373=) rs1063125
NM_000702.4(ATP1A2):c.1704C>T (p.Phe568=) rs17846714
NM_000702.4(ATP1A2):c.2259C>T (p.Ala753=) rs17846715
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His) rs11549936
NM_000709.4(BCKDHA):c.1221A>G (p.Leu407=) rs4674
NM_000709.4(BCKDHA):c.34C>A (p.Arg12=) rs34541442
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879
NM_000709.4(BCKDHA):c.639C>T (p.Ile213=) rs10404506
NM_000709.4(BCKDHA):c.972C>T (p.Phe324=) rs284652
NM_000709.4(BCKDHA):c.995+26C>T rs284653
NM_000709.4(BCKDHA):c.995+49G>A rs284654
NM_000709.4(BCKDHA):c.996-33dup rs3217385
NM_000719.7(CACNA1C):c.1114-292C>T rs2238087
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=) rs56394008
NM_000719.7(CACNA1C):c.3747C>T (p.Ile1249=) rs370576211
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586
NM_000744.7(CHRNA4):c.1209G>T (p.Pro403=) rs2229959
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=) rs2229960
NM_000744.7(CHRNA4):c.1352C>T (p.Pro451Leu) rs55915440
NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=) rs1044396
NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=) rs1044397
NM_000744.7(CHRNA4):c.189C>T (p.Leu63=) rs2273506
NM_000744.7(CHRNA4):c.51G>A (p.Leu17=) rs79739740
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.9A>G (p.Leu3=) rs80075498
NM_000747.3(CHRNB1):c.1045-6C>G rs79209506
NM_000747.3(CHRNB1):c.1259T>C (p.Ile420Thr) rs76927517
NM_000747.3(CHRNB1):c.821-9C>T rs76001008
NM_000748.3(CHRNB2):c.1191G>C (p.Gln397His) rs55685423
NM_000748.3(CHRNB2):c.1338+14G>T rs4845378
NM_000748.3(CHRNB2):c.210+9A>G rs3926124
NM_000751.3(CHRND):c.1047+9T>C rs3762528
NM_000751.3(CHRND):c.120G>A (p.Lys40=) rs55921262
NM_000751.3(CHRND):c.1400G>A (p.Arg467His) rs148939701
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) rs41265127
NM_000754.3(COMT):c.186C>T (p.His62=) rs4633
NM_000754.3(COMT):c.408C>G (p.Leu136=) rs4818
NM_000754.4(COMT):c.472G>A (p.Val158Met) rs4680
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687
NM_000784.4(CYP27A1):c.673C>T (p.Arg225Cys) rs114768494
NM_000795.4(DRD2):c.928C>T (p.Pro310Ser) rs1800496
NM_000795.4(DRD2):c.957C>T (p.Pro319=) rs6277
NM_000934.3(SERPINF2):c.1107C>T (p.Ser369=) rs148395057
NM_001005242.3(PKP2):c.1379-2019C>T rs149930872
NM_001005242.3(PKP2):c.1557-13dup rs200009796
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_001005360.2(DNM2):c.1545+14C>G rs114713494
NM_001005360.2(DNM2):c.235+6A>G rs113192269
NM_001005360.2(DNM2):c.236-8C>G rs143084059
NM_001005360.2(DNM2):c.519T>C (p.Ala173=) rs77702567
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=) rs2229920
NM_001008212.2(OPTN):c.489A>G (p.Glu163=) rs113811959
NM_001009944.3(PKD1):c.10531C>G (p.Leu3511Val) rs141946034
NM_001009944.3(PKD1):c.11537+3_11537+5dup rs201204878
NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=) rs112387277
NM_001009944.3(PKD1):c.12139-5C>T rs146430229
NM_001009944.3(PKD1):c.1710C>T (p.His570=) rs367983387
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.2655C>T (p.Cys885=) rs142606648
NM_001009944.3(PKD1):c.3183G>A (p.Glu1061=) rs148727945
NM_001009944.3(PKD1):c.3502C>T (p.Pro1168Ser) rs146887330
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp) rs143690392
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.5611G>A (p.Ala1871Thr) rs144137200
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.7275C>T (p.Gly2425=) rs115772084
NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys) rs376283361
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.8123C>T (p.Thr2708Met) rs147350387
NM_001009944.3(PKD1):c.8161+5C>T rs534696523
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_001010892.3(RSPH4A):c.*8A>G rs575857124
NM_001010892.3(RSPH4A):c.1708G>C (p.Glu570Gln) rs147003118
NM_001017995.3(SH3PXD2B):c.1062+15G>A rs111572530
NM_001017995.3(SH3PXD2B):c.843G>A (p.Glu281=) rs138021995
NM_001024630.4(RUNX2):c.225GGCGGCTGCGGCGGCGGC[1] (p.Ala84_Ala89del) rs11498192
NM_001031737.3(CCDC78):c.549G>A (p.Leu183=) rs8055909
NM_001031737.3(CCDC78):c.937C>T (p.Leu313=) rs61998209
NM_001032386.2(SUOX):c.1281G>C (p.Ser427=) rs773115
NM_001035.3(RYR2):c.10230+20T>C rs74323916
NM_001035.3(RYR2):c.10231-4T>C rs117180147
NM_001035.3(RYR2):c.11246-11del rs397516503
NM_001035.3(RYR2):c.1143C>T (p.Ser381=) rs368844286
NM_001035.3(RYR2):c.11496C>T (p.Asp3832=) rs397516505
NM_001035.3(RYR2):c.14756+12C>T rs2275693
NM_001035.3(RYR2):c.14809-15C>G rs790897
NM_001035.3(RYR2):c.2301G>T (p.Ser767=) rs117588730
NM_001035.3(RYR2):c.4740G>A (p.Pro1580=) rs79811945
NM_001035.3(RYR2):c.7161G>A (p.Ala2387=) rs371560909
NM_001037.5(SCN1B):c.501T>C (p.Ile167=) rs16969930
NM_001037.5(SCN1B):c.588T>C (p.Asn196=) rs77244433
NM_001038.6(SCNN1A):c.1477T>C (p.Trp493Arg) rs5742912
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.4165C>A (p.Leu1389Ile) rs144175566
NM_001039141.3(TRIOBP):c.4178C>T (p.Pro1393Leu) rs28450766
NM_001039141.3(TRIOBP):c.5764C>T (p.Arg1922Trp) rs183941928
NM_001039141.3(TRIOBP):c.6472+14G>T rs45503898
NM_001039141.3(TRIOBP):c.6571C>T (p.His2191Tyr) rs61729063
NM_001039141.3(TRIOBP):c.6736G>A (p.Glu2246Lys) rs138139146
NM_001039141.3(TRIOBP):c.6806A>G (p.Asn2269Ser) rs61729060
NM_001039141.3(TRIOBP):c.6899T>C (p.Val2300Ala) rs61737841
NM_001039141.3(TRIOBP):c.7032G>A (p.Glu2344=) rs61737839
NM_001039213.4(CEACAM16):c.352G>A (p.Glu118Lys) rs183860695
NM_001039523.3(CHRNA1):c.1035C>T (p.His345=) rs2229957
NM_001039523.3(CHRNA1):c.1148A>T (p.Asp383Val) rs6739001
NM_001039523.3(CHRNA1):c.615+4G>C rs112674580
NM_001039523.3(CHRNA1):c.730C>T (p.Leu244=) rs150638770
NM_001039958.2(MESP2):c.498C>G (p.Pro166=) rs200336355
NM_001039958.2(MESP2):c.549_584del (p.180_181QG[7]) rs749710849
NM_001039958.2(MESP2):c.908T>C (p.Leu303Pro) rs185706635
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=) rs145662546
NM_001040142.2(SCN2A):c.387-10G>A rs2304015
NM_001040142.2(SCN2A):c.56G>A (p.Arg19Lys) rs17183814
NM_001040167.2(LFNG):c.612C>T (p.Tyr204=) rs147266260
NM_001042413.2(GLIS3):c.1270T>C (p.Ser424Pro) rs806052
NM_001042413.2(GLIS3):c.1367C>A (p.Pro456Gln) rs6415788
NM_001042413.2(GLIS3):c.938G>C (p.Gly313Ala) rs35154632
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) rs142712751
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889
NM_001042492.3(NF1):c.2985G>C (p.Leu995=) rs17881467
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=) rs150015024
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=) rs17886566
NM_001042492.3(NF1):c.4577+12C>T rs17878332
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val) rs147327414
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_001042492.3(NF1):c.6922-14_6922-13del rs146785663
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu) rs148736217
NM_001042492.3(NF1):c.7190-33TTGT[3] rs149197458
NM_001042492.3(NF1):c.7190-33TTGT[7] rs149197458
NM_001042492.3(NF1):c.7190-5del rs769290414
NM_001042492.3(NF1):c.7321+19_7321+22del rs528866152
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=) rs149924365
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524
NM_001042492.3(NF1):c.8151G>A (p.Pro2717=) rs2285895
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=) rs142636150
NM_001042723.2(RYR1):c.11305del (p.Ala3769fs) rs768698639
NM_001042723.2(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122
NM_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser) rs73989521
NM_001044385.3(TMEM237):c.194A>G (p.Asn65Ser) rs141817764
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=) rs6736435
NM_001048166.1(STIL):c.2259C>G (p.Ser753=) rs774035449
NM_001048166.1(STIL):c.257C>T (p.Ala86Val) rs3125630
NM_001048171.1(MUTYH):c.1144+9A>T rs587780742
NM_001048171.1(MUTYH):c.37-7G>A rs780029247
NM_001048171.1(MUTYH):c.956-9C>T rs3219488
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu) rs79777494
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=) rs74318065
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp) rs75321043
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183
NM_001048174.2(MUTYH):c.930G>C (p.Gln310His) rs3219489
NM_001065.4(TNFRSF1A):c.36A>G (p.Pro12=) rs767455
NM_001065.4(TNFRSF1A):c.625+10A>G rs1800693
NM_001077365.2(POMT1):c.1125C>T (p.His375=) rs35242383
NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile) rs377304621
NM_001077365.2(POMT1):c.1365+15C>T rs58896330
NM_001077365.2(POMT1):c.1416C>T (p.Val472=) rs139687326
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.1545C>G (p.Ser515Arg) rs150367385
NM_001077365.2(POMT1):c.1585-14C>T rs78529026
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=) rs150814269
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala) rs144338642
NM_001077365.2(POMT1):c.1826-40G>A rs187443595
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.2137C>T (p.Arg713Cys) rs147266709
NM_001077365.2(POMT1):c.42C>T (p.Asp14=) rs150937126
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.913G>A (p.Val305Ile) rs4740164
NM_001077365.2(POMT1):c.986+9A>G rs202095070
NM_001077418.3(TMEM231):c.140-28C>G rs375353411
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val) rs3743601
NM_001077418.3(TMEM231):c.177G>C (p.Pro59=) rs78196225
NM_001077418.3(TMEM231):c.582+3A>G rs114290622
NM_001077418.3(TMEM231):c.582+8C>G rs144252983
NM_001077418.3(TMEM231):c.813G>A (p.Val271=) rs2242406
NM_001077418.3(TMEM231):c.891G>A (p.Val297=) rs149888762
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.167G>A (p.Arg56His) rs146951171
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999
NM_001080449.3(DNA2):c.2430C>G (p.Phe810Leu) rs73274785
NM_001080479.2(ARHGEF28):c.315G>T (p.Thr105=) rs191563093
NM_001080479.2(ARHGEF28):c.4054G>A (p.Val1352Ile) rs188040167
NM_001080522.2(CC2D2A):c.*1T>A rs199945435
NM_001080522.2(CC2D2A):c.1017+7G>A rs137919504
NM_001080522.2(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095
NM_001080522.2(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937
NM_001080522.2(CC2D2A):c.1764+45T>G rs1558572
NM_001080522.2(CC2D2A):c.1765-24A>G rs1861044
NM_001080522.2(CC2D2A):c.1978G>A (p.Val660Ile) rs16892134
NM_001080522.2(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001080522.2(CC2D2A):c.2003+19C>T rs17476642
NM_001080522.2(CC2D2A):c.2182-24C>T rs2041673
NM_001080522.2(CC2D2A):c.2830-38G>T rs35309200
NM_001080522.2(CC2D2A):c.3183-8T>C rs13121363
NM_001080522.2(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627
NM_001080522.2(CC2D2A):c.3288+41A>C rs13116304
NM_001080522.2(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948
NM_001080522.2(CC2D2A):c.355T>C (p.Leu119=) rs202150325
NM_001080522.2(CC2D2A):c.3595-22C>T rs4280724
NM_001080522.2(CC2D2A):c.4065+28A>T rs6832789
NM_001080522.2(CC2D2A):c.4296T>C (p.Cys1432=) rs372671421
NM_001080522.2(CC2D2A):c.4648C>T (p.Leu1550=) rs199861496
NM_001080522.2(CC2D2A):c.4675-14T>A rs766203266
NM_001080522.2(CC2D2A):c.501G>T (p.Lys167Asn) rs190694237
NM_001080522.2(CC2D2A):c.541-20T>G rs114335547
NM_001080522.2(CC2D2A):c.541-25G>T rs16892080
NM_001080522.2(CC2D2A):c.717+11T>C rs184351317
NM_001080522.2(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_001080522.2(CC2D2A):c.777C>T (p.His259=) rs2286976
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509
NM_001082538.3(TCTN1):c.1396G>T (p.Gly466Cys) rs118096349
NM_001082538.3(TCTN1):c.1410C>T (p.Tyr470=) rs370336923
NM_001082538.3(TCTN1):c.1471A>T (p.Ile491Phe) rs201894544
NM_001082538.3(TCTN1):c.220+12G>C rs76843552
NM_001082538.3(TCTN1):c.473-10T>A rs12307716
NM_001082538.3(TCTN1):c.894C>T (p.Leu298=) rs16940927
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser) rs28933375
NM_001083961.2(WDR62):c.1643-39G>A rs2301735
NM_001083961.2(WDR62):c.2147-34G>A rs2301736
NM_001083961.2(WDR62):c.2334-29C>T rs2301737
NM_001083961.2(WDR62):c.700-18C>T rs10423651
NM_001098.3(ACO2):c.192A>C (p.Thr64=) rs137831
NM_001098.3(ACO2):c.670C>T (p.Leu224=) rs1799932
NM_001098.3(ACO2):c.84A>G (p.Gln28=) rs150850549
NM_001100.3(ACTA1):c.129+31C>A rs144658220
NM_001100.3(ACTA1):c.617-5C>T rs199804338
NM_001100.3(ACTA1):c.996C>A (p.Ile332=) rs74897770
NM_001100.4(ACTA1):c.130-10G>C rs41271481
NM_001101362.2(KBTBD13):c.-13C>T rs147079462
NM_001101362.2(KBTBD13):c.1077A>G (p.Gly359=) rs199526404
NM_001101362.2(KBTBD13):c.1128G>A (p.Thr376=) rs116623596
NM_001101362.2(KBTBD13):c.1197C>T (p.Arg399=) rs150830358
NM_001101362.2(KBTBD13):c.1363A>G (p.Thr455Ala) rs116406369
NM_001101362.2(KBTBD13):c.246G>C (p.Val82=) rs115182478
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.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.726A>G (p.Gln242=) rs61746966
NM_001106.4(ACVR2B):c.1075-5C>T rs115155428
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194
NM_001110556.2(FLNA):c.2023-4C>G rs368719012
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=) rs61741041
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=) rs2070825
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=) rs1064822
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517
NM_001110792.2(MECP2):c.789C>T (p.Pro263=) rs63582063
NM_001113378.1(FANCI):c.1813C>T (p.Leu605Phe) rs117125761
NM_001113378.1(FANCI):c.3906T>C (p.Gly1302=) rs1138465
NM_001114753.3(ENG):c.1096G>C (p.Asp366His) rs1800956
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046
NM_001122630.2(CDKN1C):c.495G>C (p.Ala165=) rs533485167
NM_001122630.2(CDKN1C):c.522T>C (p.Ala174=) rs191294997
NM_001122630.2(CDKN1C):c.573GGCCCC[2] (p.186AP[8]) rs759134767
NM_001122630.2(CDKN1C):c.675G>A (p.Glu225=) rs3741341
NM_001122659.3(EDNRB):c.1239C>G (p.Ser413=) rs139317762
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) rs1801710
NM_001122659.3(EDNRB):c.561C>T (p.Ile187=) rs5349
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352
NM_001123385.2(BCOR):c.1260T>C (p.Asp420=) rs5917933
NM_001123385.2(BCOR):c.1692A>G (p.Ala564=) rs6520618
NM_001123385.2(BCOR):c.1779C>A (p.Ser593=) rs17145652
NM_001123385.2(BCOR):c.4977-4G>T rs5963725
NM_001126049.2(KLLN):c.-1007C>G rs587780001
NM_001126049.2(KLLN):c.-955G>T rs587781128
NM_001126108.2(SLC12A3):c.1210G>A (p.Val404Ile) rs150358489
NM_001126108.2(SLC12A3):c.249G>T (p.Arg83=) rs76750525
NM_001127222.2(CACNA1A):c.1182G>A (p.Glu394=) rs2248069
NM_001127222.2(CACNA1A):c.1345+7C>T rs192536793
NM_001127222.2(CACNA1A):c.1776C>G (p.Val592=) rs16012
NM_001127222.2(CACNA1A):c.1914-4G>A rs191026552
NM_001127222.2(CACNA1A):c.2091G>A (p.Thr697=) rs16016
NM_001127222.2(CACNA1A):c.2751G>C (p.Glu917Asp) rs16022
NM_001127222.2(CACNA1A):c.2975A>T (p.Glu992Val) rs16023
NM_001127222.2(CACNA1A):c.3057G>A (p.Arg1019=) rs16025
NM_001127222.2(CACNA1A):c.3310G>A (p.Gly1104Ser) rs16027
NM_001127222.2(CACNA1A):c.3861T>C (p.Phe1287=) rs16030
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=) rs41276894
NM_001127222.2(CACNA1A):c.6657T>C (p.His2219=) rs16051
NM_001127644.2(GABRA1):c.74+9A>T rs41275339
NM_001127644.2(GABRA1):c.96A>G (p.Gln32=) rs76224028
NM_001127649.3(PEX26):c.*10C>T rs117472525
NM_001127701.1(SERPINA1):c.1200A>C (p.Glu400Asp) rs1303
NM_001127701.1(SERPINA1):c.374G>A (p.Arg125His) rs709932
NM_001128227.3(GNE):c.-10G>A rs73449614
NM_001128425.1(MUTYH):c.1186+17C>T rs369034810
NM_001128849.2(SMARCA4):c.1114T>C (p.Tyr372His) rs140192268
NM_001128849.2(SMARCA4):c.4590C>T (p.Tyr1530=) rs139505007
NM_001128849.2(SMARCA4):c.4680C>T (p.Asp1560=) rs9105
NM_001130438.3(SPTAN1):c.3520-14C>G rs142682344
NM_001130438.3(SPTAN1):c.6708-7C>T rs16930539
NM_001130823.3(DNMT1):c.150C>T (p.His50=) rs146112081
NM_001130823.3(DNMT1):c.891+8C>T rs117294281
NM_001130987.2(DYSF):c.1038C>T (p.His346=) rs36122356
NM_001130987.2(DYSF):c.1276+11C>T rs35982795
NM_001130987.2(DYSF):c.1380+6G>C rs75796187
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.1577-1635C>G rs76402294
NM_001130987.2(DYSF):c.1626C>T (p.Asn542=) rs139495331
NM_001130987.2(DYSF):c.1785G>A (p.Ala595=) rs35984374
NM_001130987.2(DYSF):c.1881T>C (p.Asp627=) rs2303596
NM_001130987.2(DYSF):c.1914C>T (p.Tyr638=) rs35721373
NM_001130987.2(DYSF):c.1944G>A (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.1985-31C>A rs13424178
NM_001130987.2(DYSF):c.2107C>G (p.Leu703Val) rs74423119
NM_001130987.2(DYSF):c.2110-43G>T rs72827543
NM_001130987.2(DYSF):c.2334C>T (p.Leu778=) rs116204385
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) rs34671418
NM_001130987.2(DYSF):c.2622G>A (p.Leu874=) rs191337920
NM_001130987.2(DYSF):c.2637A>T (p.Ser879=) rs2288355
NM_001130987.2(DYSF):c.2856G>A (p.Pro952=) rs34836829
NM_001130987.2(DYSF):c.2980-15C>T rs148732505
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln) rs34211915
NM_001130987.2(DYSF):c.3239CGGAGG[3] (p.1080AE[3]) rs398123779
NM_001130987.2(DYSF):c.3267C>T (p.Tyr1089=) rs150355624
NM_001130987.2(DYSF):c.3341G>A (p.Arg1114His) rs59915619
NM_001130987.2(DYSF):c.3403-10G>A rs116733194
NM_001130987.2(DYSF):c.378G>A (p.Pro126=) rs377056951
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=) rs139983909
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954
NM_001130987.2(DYSF):c.396C>T (p.Pro132=) rs34603128
NM_001130987.2(DYSF):c.4026C>T (p.Asn1342=) rs11558179
NM_001130987.2(DYSF):c.4046G>T (p.Arg1349Leu) rs61742872
NM_001130987.2(DYSF):c.4062C>A (p.Ile1354=) rs2303606
NM_001130987.2(DYSF):c.4122C>T (p.Ser1374=) rs2303607
NM_001130987.2(DYSF):c.4377G>A (p.Gln1459=) rs76576806
NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=) rs148055736
NM_001130987.2(DYSF):c.4621C>T (p.Leu1541=) rs7573406
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=) rs142483266
NM_001130987.2(DYSF):c.4848G>A (p.Glu1616=) rs62145939
NM_001130987.2(DYSF):c.4937T>C (p.Ile1646Thr) rs146384562
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=) rs17718530
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu) rs34999029
NM_001130987.2(DYSF):c.6321+15C>T rs2559082
NM_001130987.2(DYSF):c.661C>G (p.Leu221Val) rs13407355
NM_001130987.2(DYSF):c.666T>C (p.Pro222=) rs35392229
NM_001130987.2(DYSF):c.690C>T (p.Pro230=) rs376293526
NM_001130987.2(DYSF):c.772G>A (p.Val258Met) rs150345121
NM_001130987.2(DYSF):c.888+11T>C rs13428076
NM_001130987.2(DYSF):c.951+39T>C rs74384941
NM_001130987.2(DYSF):c.951+4T>C rs11903960
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984
NM_001134363.3(RBM20):c.1881-3C>T rs138436392
NM_001134363.3(RBM20):c.3574-7T>G rs397516616
NM_001134407.3(GRIN2A):c.1275G>A (p.Leu425=) rs2229193
NM_001134407.3(GRIN2A):c.1329-8C>T rs7193290
NM_001134407.3(GRIN2A):c.2085G>C (p.Arg695=) rs9806806
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met) rs200927282
NM_001134831.2(AHI1):c.1152-11T>G rs113317693
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His) rs35433555
NM_001134831.2(AHI1):c.1780-47C>T rs17053651
NM_001134831.2(AHI1):c.178A>G (p.Thr60Ala) rs115502075
NM_001134831.2(AHI1):c.2382A>G (p.Lys794=) rs191682790
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=) rs41288017
NM_001134831.2(AHI1):c.2624-6A>G rs41288015
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys) rs41288013
NM_001134831.2(AHI1):c.2916T>G (p.Ser972=) rs140280929
NM_001134831.2(AHI1):c.2962-16A>G rs41287056
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=) rs142381345
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro) rs6940875
NM_001134831.2(AHI1):c.3110-22_3110-19del rs71725890
NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met) rs73559947
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=) rs115338154
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468
NM_001134831.2(AHI1):c.804A>C (p.Ser268=) rs35528530
NM_001134831.2(AHI1):c.932-10A>G rs114319588
NM_001135599.3(TGFB2):c.703G>C (p.Val235Leu) rs10482810
NM_001142301.1(TMEM67):c.1045+46C>T rs73694952
NM_001142301.1(TMEM67):c.263+48G>A rs73694924
NM_001142301.1(TMEM67):c.264-19T>C rs138589757
NM_001142301.1(TMEM67):c.2665-43C>T rs56307046
NM_001142301.1(TMEM67):c.627-29A>G rs116802062
NM_001142301.1(TMEM67):c.823-3C>T rs3097427
NM_001142571.2(RAD51D):c.726A>G (p.Glu242=) rs114012742
NM_001142571.2(RAD51D):c.758A>G (p.Glu253Gly) rs28363284
NM_001142633.2(PIK3R5):c.1011C>T (p.Asp337=) rs16957702
NM_001142633.2(PIK3R5):c.1075T>C (p.Leu359=) rs381309
NM_001142633.2(PIK3R5):c.1101G>A (p.Ser367=) rs9915880
NM_001142633.2(PIK3R5):c.837C>T (p.His279=) rs394811
NM_001142633.2(PIK3R5):c.933A>G (p.Leu311=) rs11650737
NM_001143992.2(WRAP53):c.1223G>A (p.Gly408Asp) rs116535684
NM_001143992.2(WRAP53):c.407C>G (p.Pro136Arg) rs34067256
NM_001145308.4(LRTOMT):c.69G>C (p.Leu23=) rs12272086
NM_001145661.2(GATA2):c.1061C>T (p.Thr354Met) rs387906631
NM_001145661.2(GATA2):c.1084C>T (p.Arg362Ter) rs1553770510
NM_001145661.2(GATA2):c.121C>G (p.Pro41Ala) rs143590990
NM_001145661.2(GATA2):c.481C>G (p.Pro161Ala) rs34799090
NM_001145661.2(GATA2):c.857C>T (p.Ala286Val) rs797045592
NM_001145809.2(MYH14):c.192G>T (p.Gly64=) rs181055215
NM_001145809.2(MYH14):c.5227C>T (p.Leu1743=) rs147447646
NM_001145809.2(MYH14):c.5573G>A (p.Arg1858His) rs11882073
NM_001146079.2(CLDN14):c.*10G>C rs139628442
NM_001146079.2(CLDN14):c.300C>T (p.Ile100=) rs113350364
NM_001148.6(ANK2):c.2377-8C>T rs139893914
NM_001159699.2(FHL1):c.489C>T (p.Asp163=) rs149670651
NM_001159699.2(FHL1):c.737-3del rs368428875
NM_001160372.4(TRAPPC9):c.1458C>T (p.Phe486=) rs34179337
NM_001160372.4(TRAPPC9):c.1692C>T (p.Asn564=) rs12549048
NM_001160372.4(TRAPPC9):c.207T>C (p.Gly69=) rs3735801
NM_001160372.4(TRAPPC9):c.2292C>T (p.Gly764=) rs11166965
NM_001160372.4(TRAPPC9):c.2431+7G>A rs11166964
NM_001160372.4(TRAPPC9):c.2799= (p.Gly933=) rs2614718
NM_001160372.4(TRAPPC9):c.288T>C (p.Phe96=) rs3735802
NM_001160372.4(TRAPPC9):c.411C>T (p.Asn137=) rs3735803
NM_001163817.2(DHCR7):c.1341C>T (p.Asp447=) rs139721775
NM_001164277.1(SLC37A4):c.1275C>T (p.Ser425=) rs35010541
NM_001165927.1(MKS1):c.1406G>A (p.Arg469His) rs111315726
NM_001165927.1(MKS1):c.161-44G>A rs73329636
NM_001165927.1(MKS1):c.1641G>C (p.Leu547=) rs11548967
NM_001165927.1(MKS1):c.438C>T (p.Val146=) rs199684837
NM_001165927.1(MKS1):c.828+9A>G rs3826300
NM_001165927.1(MKS1):c.844A>G (p.Lys282Glu) rs201845569
NM_001165963.4(SCN1A):c.1065T>C (p.Gly355=) rs757535449
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=) rs6432860
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771
NM_001165963.4(SCN1A):c.345T>C (p.Asn115=) rs61741123
NM_001165963.4(SCN1A):c.4393A>G (p.Ile1465Val) rs138231868
NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=) rs587780445
NM_001165963.4(SCN1A):c.5864T>C (p.Ile1955Thr) rs35735053
NM_001167617.2(MLH1):c.1852G>A (p.Val618Met) rs35831931
NM_001172303.3(MASTL):c.34G>C (p.Gly12Arg) rs151176548
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu) rs57932685
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265
NM_001173990.3(TMEM216):c.35-17C>T rs147953784
NM_001174150.2(ARL13B):c.1043C>G (p.Thr348Ser) rs33944211
NM_001174150.2(ARL13B):c.105C>T (p.Thr35=) rs146396078
NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala) rs11554412
NM_001177599.1(SUCLG2):c.302A>G (p.Lys101Arg) rs74675534
NM_001182.5(ALDH7A1):c.1315A>C (p.Lys439Gln) rs12514417
NM_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684
NM_001182.5(ALDH7A1):c.273T>C (p.Thr91=) rs60720055
NM_001182.5(ALDH7A1):c.675C>T (p.Leu225=) rs57902950
NM_001182.5(ALDH7A1):c.774-18G>A rs185333013
NM_001184880.2(PCDH19):c.531G>A (p.Glu177=) rs192122222
NM_001184880.2(PCDH19):c.6G>A (p.Glu2=) rs184883626
NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=) rs374780430
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324
NM_001195248.2(APTX):c.513G>A (p.Leu171=) rs140888559
NM_001195553.2(DCX):c.705+48A>G rs201805884
NM_001195553.2(DCX):c.947-46T>C rs113181679
NM_001195573.1(DICER1):c.5365-142del rs1555366197
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=) rs12373107
NM_001199107.2(TBC1D24):c.207T>C (p.Pro69=) rs13339237
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728
NM_001199799.2(ILDR1):c.1581G>A (p.Gly527=) rs142243054
NM_001202.6(BMP4):c.455T>C (p.Val152Ala) rs17563
NM_001204.7(BMPR2):c.621+37C>G rs78779412
NM_001206744.2(TPO):c.660C>T (p.Val220=) rs151154074
NM_001206979.2(NR1H4):c.1245T>C (p.Leu415=) rs368975126
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=) rs7413162
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del) rs397516641
NM_001232.4(CASQ2):c.1194T>C (p.Asp398=) rs28730711
NM_001243133.2(NLRP3):c.1020C>T (p.Pro340=) rs41311573
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) rs35829419
NM_001244710.1(GFPT1):c.147T>C (p.Asp49=) rs2230300
NM_001254.4(CDC6):c.1321G>A (p.Val441Ile) rs13706
NM_001254.4(CDC6):c.165C>T (p.Pro55=) rs142289528
NM_001254.4(CDC6):c.438T>C (p.Cys146=) rs1130199
NM_001256545.2(MEGF10):c.1046G>A (p.Arg349His) rs78847357
NM_001256715.2(DNAAF3):c.1001T>C (p.Leu334Pro) rs890871
NM_001256715.2(DNAAF3):c.1056G>A (p.Pro352=) rs891187
NM_001256715.2(DNAAF3):c.1164-14C>T rs60176657
NM_001256715.2(DNAAF3):c.1239-8A>G rs28377509
NM_001256715.2(DNAAF3):c.1248G>A (p.Val416=) rs111250144
NM_001256715.2(DNAAF3):c.323-4del rs201986299
NM_001256715.2(DNAAF3):c.327A>G (p.Arg109=) rs3848618
NM_001256715.2(DNAAF3):c.510A>G (p.Val170=) rs56726774
NM_001256715.2(DNAAF3):c.529G>A (p.Gly177Ser) rs58824375
NM_001256715.2(DNAAF3):c.666T>C (p.Ala222=) rs7260320
NM_001256715.2(DNAAF3):c.790-14C>T rs7260371
NM_001256715.2(DNAAF3):c.875A>G (p.Glu292Gly) rs2365725
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile) rs141010716
NM_001256789.3(CACNA1F):c.2673+3G>A rs41312124
NM_001257.5(CDH13):c.1126G>A (p.Ala376Thr) rs35549391
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.100459C>T (p.Pro33487Ser) rs72629779
NM_001267550.2(TTN):c.100579G>A (p.Val33527Ile) rs2278196
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln) rs34819099
NM_001267550.2(TTN):c.10114+5G>A rs115985443
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463
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.101891G>A (p.Arg33964His) rs55669553
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn) rs144963736
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.103207C>T (p.Leu34403=) rs773892755
NM_001267550.2(TTN):c.103781G>A (p.Arg34594His) rs3829747
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=) rs199714102
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala) rs201218828
NM_001267550.2(TTN):c.104943A>G (p.Glu34981=) rs372312805
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.105782C>T (p.Pro35261Leu) rs16866380
NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser) rs67254537
NM_001267550.2(TTN):c.105787_105788delinsTT (p.Ala35263Phe) rs794729250
NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val) rs66961115
NM_001267550.2(TTN):c.106275G>C (p.Gly35425=) rs56207956
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr) rs55880440
NM_001267550.2(TTN):c.106920G>A (p.Leu35640=) rs183923129
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=) rs371480338
NM_001267550.2(TTN):c.107700A>G (p.Glu35900=) rs55832587
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe) rs34618570
NM_001267550.2(TTN):c.14525G>A (p.Arg4842Lys) rs2742347
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr) rs72648923
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.16303G>A (p.Val5435Met) rs72648937
NM_001267550.2(TTN):c.178G>T (p.Asp60Tyr) rs35683768
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=) rs66523653
NM_001267550.2(TTN):c.18903C>T (p.Thr6301=) rs72648950
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.20602G>A (p.Gly6868Arg) rs17355460
NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val) rs17355446
NM_001267550.2(TTN):c.21106G>A (p.Asp7036Asn) rs72648962
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=) rs34562585
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.22634G>A (p.Arg7545Gln) rs72648969
NM_001267550.2(TTN):c.22786G>C (p.Asp7596His) rs72648970
NM_001267550.2(TTN):c.2432C>T (p.Thr811Ile) rs35813871
NM_001267550.2(TTN):c.24431A>C (p.Glu8144Ala) rs16866465
NM_001267550.2(TTN):c.24505+13C>T rs534803807
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly) rs72648982
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=) rs72648983
NM_001267550.2(TTN):c.25064C>A (p.Ala8355Glu) rs2627043
NM_001267550.2(TTN):c.25274G>A (p.Ser8425Asn) rs13390491
NM_001267550.2(TTN):c.25398T>A (p.Asp8466Glu) rs72648986
NM_001267550.2(TTN):c.25921+10C>T rs10183237
NM_001267550.2(TTN):c.25921+20G>A rs148460010
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile) rs141856116
NM_001267550.2(TTN):c.26408A>G (p.Asn8803Ser) rs12693164
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) rs140003804
NM_001267550.2(TTN):c.26681C>T (p.Pro8894Leu) rs13398235
NM_001267550.2(TTN):c.26991A>C (p.Thr8997=) rs61232800
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.29079G>A (p.Ala9693=) rs372997298
NM_001267550.2(TTN):c.29153T>C (p.Ile9718Thr) rs4893852
NM_001267550.2(TTN):c.30952G>A (p.Glu10318Lys) rs73038324
NM_001267550.2(TTN):c.31564A>G (p.Ile10522Val) rs2042995
NM_001267550.2(TTN):c.31864G>A (p.Gly10622Arg) rs2244492
NM_001267550.2(TTN):c.32254G>A (p.Val10752Ile) rs72650028
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.32807-10T>A rs138192315
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.33416G>C (p.Arg11139Thr) rs72650040
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup) rs368327166
NM_001267550.2(TTN):c.3409G>C (p.Gly1137Arg) rs72647870
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met) rs73038314
NM_001267550.2(TTN):c.39690G>A (p.Ala13230=) rs528832388
NM_001267550.2(TTN):c.39731TTGCTCCTGAAGAGGAAA[1] (p.13244IAPEEE[1]) rs139512154
NM_001267550.2(TTN):c.40408+7_40408+10dup rs397517560
NM_001267550.2(TTN):c.4177A>G (p.Ile1393Val) rs16866531
NM_001267550.2(TTN):c.42071A>G (p.His14024Arg) rs2288563
NM_001267550.2(TTN):c.42783A>G (p.Lys14261=) rs16866425
NM_001267550.2(TTN):c.42958A>G (p.Lys14320Glu) rs6723526
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys) rs12471771
NM_001267550.2(TTN):c.4715G>A (p.Arg1572Gln) rs12476289
NM_001267550.2(TTN):c.47737C>T (p.Leu15913Phe) rs138576504
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) rs72677242
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr) rs36043230
NM_001267550.2(TTN):c.51482C>T (p.Ala17161Val) rs16866412
NM_001267550.2(TTN):c.5231C>T (p.Pro1744Leu) rs75686037
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=) rs73036398
NM_001267550.2(TTN):c.53123A>T (p.Lys17708Ile) rs2303832
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.55547T>C (p.Ile18516Thr) rs146608896
NM_001267550.2(TTN):c.56101A>G (p.Asn18701Asp) rs1001238
NM_001267550.2(TTN):c.58436G>A (p.Arg19479His) rs2288569
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=) rs2303836
NM_001267550.2(TTN):c.59585C>T (p.Pro19862Leu) rs16866406
NM_001267550.2(TTN):c.6162C>T (p.Ala2054=) rs143265948
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile) rs72646850
NM_001267550.2(TTN):c.63165G>A (p.Pro21055=) rs72646852
NM_001267550.2(TTN):c.64208C>T (p.Thr21403Ile) rs2042996
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu) rs13021201
NM_001267550.2(TTN):c.65743C>A (p.Gln21915Lys) rs62618736
NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln) rs148849567
NM_001267550.2(TTN):c.67075G>A (p.Val22359Ile) rs2303838
NM_001267550.2(TTN):c.67637-4A>G rs376053678
NM_001267550.2(TTN):c.67959T>C (p.Phe22653=) rs72646877
NM_001267550.2(TTN):c.68217T>C (p.His22739=) rs10497517
NM_001267550.2(TTN):c.69145A>G (p.Ile23049Val) rs72646881
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=) rs72646890
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg) rs55801134
NM_001267550.2(TTN):c.7174G>A (p.Gly2392Ser) rs4894048
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His) rs10164753
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) rs55762754
NM_001267550.2(TTN):c.74839C>T (p.Arg24947Cys) rs744426
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr) rs744427
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=) rs56151652
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=) rs140350441
NM_001267550.2(TTN):c.76343G>A (p.Ser25448Asn) rs3813243
NM_001267550.2(TTN):c.76720T>C (p.Tyr25574His) rs3813245
NM_001267550.2(TTN):c.77279A>G (p.Asn25760Ser) rs3813246
NM_001267550.2(TTN):c.77638A>G (p.Thr25880Ala) rs56018860
NM_001267550.2(TTN):c.7830G>C (p.Met2610Ile) rs56142888
NM_001267550.2(TTN):c.78674T>C (p.Ile26225Thr) rs12463674
NM_001267550.2(TTN):c.79265T>C (p.Ile26422Thr) rs3731745
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys) rs55861600
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.80635C>A (p.Gln26879Lys) rs79926414
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=) rs56181243
NM_001267550.2(TTN):c.81958G>A (p.Ala27320Thr) rs56365600
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=) rs56345408
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.83323A>G (p.Ile27775Val) rs3829746
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.8467G>T (p.Val2823Phe) rs33917087
NM_001267550.2(TTN):c.8492G>A (p.Ser2831Asn) rs2306636
NM_001267550.2(TTN):c.86811A>G (p.Val28937=) rs55972010
NM_001267550.2(TTN):c.87669T>C (p.His29223=) rs72648229
NM_001267550.2(TTN):c.88187T>C (p.Ile29396Thr) rs9808377
NM_001267550.2(TTN):c.88272G>A (p.Glu29424=) rs9808036
NM_001267550.2(TTN):c.88394C>T (p.Ser29465Phe) rs146181116
NM_001267550.2(TTN):c.8902+14T>A rs13388274
NM_001267550.2(TTN):c.8919C>G (p.Ser2973=) rs4894045
NM_001267550.2(TTN):c.90968G>A (p.Arg30323Lys) rs11887722
NM_001267550.2(TTN):c.91071T>G (p.Thr30357=) rs11897366
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val) rs72648244
NM_001267550.2(TTN):c.92131G>A (p.Val30711Met) rs747122
NM_001267550.2(TTN):c.92191A>G (p.Ile30731Val) rs16866391
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=) rs11694623
NM_001267550.2(TTN):c.93901G>A (p.Val31301Ile) rs67665715
NM_001267550.2(TTN):c.9461A>G (p.Lys3154Arg) rs4893853
NM_001267550.2(TTN):c.95047A>G (p.Ser31683Gly) rs72648257
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.96158T>C (p.Ile32053Thr) rs62621236
NM_001267550.2(TTN):c.96944C>T (p.Thr32315Ile) rs56027402
NM_001267550.2(TTN):c.97613G>A (p.Arg32538His) rs3731749
NM_001267550.2(TTN):c.98098+9T>A rs2288325
NM_001267550.2(TTN):c.98164A>T (p.Ile32722Phe) rs72648270
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.98912G>A (p.Arg32971His) rs4894028
NM_001271.4(CHD2):c.239C>T (p.Pro80Leu) rs186163798
NM_001271.4(CHD2):c.3126C>T (p.Asp1042=) rs150268140
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg) rs117844037
NM_001271208.2(NEB):c.10201T>A (p.Ser3401Thr) rs199847072
NM_001271208.2(NEB):c.10707G>A (p.Lys3569=) rs6717213
NM_001271208.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023
NM_001271208.2(NEB):c.11729A>G (p.Asp3910Gly) rs35740585
NM_001271208.2(NEB):c.12667G>A (p.Ala4223Thr) rs12998234
NM_001271208.2(NEB):c.12C>T (p.Asp4=) rs117178114
NM_001271208.2(NEB):c.13105C>T (p.Leu4369=) rs147579763
NM_001271208.2(NEB):c.13276G>A (p.Asp4426Asn) rs876657540
NM_001271208.2(NEB):c.13353C>T (p.Ala4451=) rs774726264
NM_001271208.2(NEB):c.13368+11A>G rs112260335
NM_001271208.2(NEB):c.13476C>T (p.Asp4492=) rs876657541
NM_001271208.2(NEB):c.13534G>A (p.Ala4512Thr) rs886038435
NM_001271208.2(NEB):c.13628A>C (p.Lys4543Thr) rs200125713
NM_001271208.2(NEB):c.1366-4A>G rs886038438
NM_001271208.2(NEB):c.1413C>T (p.Phe471=) rs112958786
NM_001271208.2(NEB):c.14914T>A (p.Ser4972Thr) rs776187492
NM_001271208.2(NEB):c.15086A>C (p.Lys5029Thr) rs200053313
NM_001271208.2(NEB):c.15179A>G (p.His5060Arg) rs886038444
NM_001271208.2(NEB):c.15821A>T (p.Asn5274Ile) rs45612241
NM_001271208.2(NEB):c.16021T>C (p.Leu5341=) rs796103760
NM_001271208.2(NEB):c.16192G>A (p.Asp5398Asn) rs750810441
NM_001271208.2(NEB):c.16269C>T (p.Ala5423=) rs542916866
NM_001271208.2(NEB):c.16450G>A (p.Ala5484Thr) rs536508687
NM_001271208.2(NEB):c.16637G>A (p.Arg5546His) rs201111610
NM_001271208.2(NEB):c.1675-9T>G rs75118047
NM_001271208.2(NEB):c.16762T>A (p.Ser5588Thr) rs35227368
NM_001271208.2(NEB):c.16911A>G (p.Pro5637=) rs33988153
NM_001271208.2(NEB):c.17497G>A (p.Val5833Ile) rs149881695
NM_001271208.2(NEB):c.17887G>A (p.Val5963Ile) rs138217960
NM_001271208.2(NEB):c.18294T>C (p.Tyr6098=) rs2288211
NM_001271208.2(NEB):c.18305G>C (p.Arg6102Thr) rs2288210
NM_001271208.2(NEB):c.18555G>A (p.Lys6185=) rs145252235
NM_001271208.2(NEB):c.1856A>G (p.Lys619Arg) rs147305883
NM_001271208.2(NEB):c.18693G>C (p.Ala6231=) rs141338915
NM_001271208.2(NEB):c.18861C>T (p.Arg6287=) rs146294986
NM_001271208.2(NEB):c.18997-10T>C rs4544436
NM_001271208.2(NEB):c.19056G>T (p.Thr6352=) rs115631125
NM_001271208.2(NEB):c.19102-6C>T rs145127681
NM_001271208.2(NEB):c.19455G>A (p.Lys6485=) rs182847302
NM_001271208.2(NEB):c.19626T>C (p.Asp6542=) rs190336010
NM_001271208.2(NEB):c.19732-6C>T rs11894996
NM_001271208.2(NEB):c.20192A>T (p.Asp6731Val) rs2288200
NM_001271208.2(NEB):c.20598C>G (p.Gly6866=) rs16830192
NM_001271208.2(NEB):c.20766C>T (p.Asp6922=) rs34555492
NM_001271208.2(NEB):c.21044C>G (p.Ser7015Cys) rs62167164
NM_001271208.2(NEB):c.21624C>T (p.Ser7208=) rs16830170