ClinVar Miner

Variants from Center for Human Genetics, Inc with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Center for Human Genetics, Inc: Collection method of the submission from Center for Human Genetics, Inc:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

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

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
672 320 14 314 236 7 66 559

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
Center for Human Genetics, Inc pathogenic likely pathogenic uncertain significance likely benign benign risk factor other
pathogenic 6 65 27 2 0 3 0
likely pathogenic 64 0 16 1 0 0 1
uncertain significance 9 8 6 89 58 2 0
likely benign 3 1 139 1 181 1 0
benign 0 0 2 4 1 0 0

Submitter to submitter summary #

Total submitters: 80
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
GeneDx 0 304 0 152 90 1 10 252
Invitae 0 295 0 132 83 2 21 238
Ambry Genetics 0 242 0 64 60 0 6 130
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 81 0 55 60 0 2 117
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 74 0 52 29 0 2 83
Illumina Clinical Services Laboratory,Illumina 0 104 0 5 69 0 2 75
PreventionGenetics 0 59 0 41 30 0 1 72
Integrated Genetics/Laboratory Corporation of America 0 45 0 33 29 0 4 66
Color 0 46 0 28 31 0 3 62
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 66 0 24 30 0 1 55
Genetic Services Laboratory, University of Chicago 0 36 0 18 19 0 2 39
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 23 0 15 11 0 0 26
Center for Medical Genetics Ghent,University of Ghent 0 8 0 13 6 0 5 24
Biesecker Lab/Human Development Section,National Institutes of Health 0 3 8 2 11 0 0 21
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 7 1 3 16 0 1 21
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 26 0 9 11 0 1 21
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 14 0 10 10 0 0 20
Athena Diagnostics Inc 0 30 0 8 7 0 0 15
OMIM 0 62 0 2 3 5 3 13
Department of Pathology and Laboratory Medicine,Sinai Health System 0 13 0 4 8 0 1 13
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 7 0 7 5 0 0 12
Counsyl 0 16 0 5 5 0 1 11
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 15 0 2 7 0 1 10
Blueprint Genetics, 0 14 0 1 8 0 1 10
GeneReviews 0 5 6 0 0 0 3 9
Quest Diagnostics Nichols Institute San Juan Capistrano 0 16 0 2 7 0 0 9
Medical Genetics,University of Parma 0 7 0 6 0 0 3 9
Pathway Genomics 0 5 0 1 7 0 0 8
True Health Diagnostics 0 7 0 1 6 1 0 8
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 6 0 6 1 0 0 7
Fulgent Genetics 0 42 0 6 1 0 0 7
RettBASE 0 8 0 4 2 0 0 6
Database of Curated Mutations (DoCM) 0 1 0 6 0 0 0 6
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 17 0 2 3 0 0 5
CeGaT Praxis fuer Humangenetik Tuebingen 0 9 0 0 5 0 0 5
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 13 0 3 0 0 2 5
University of Washington Department of Laboratory Medicine,University of Washington 0 5 0 1 2 1 1 5
Mendelics 0 12 0 1 1 0 2 4
CSER_CC_NCGL; University of Washington Medical Center 0 14 0 0 4 0 0 4
Vantari Genetics 0 2 0 1 3 0 0 4
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 10 0 1 3 0 0 4
GeneKor MSA 0 5 0 1 1 1 0 3
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 2 0 0 3 0 0 3
SIB Swiss Institute of Bioinformatics 0 2 0 1 2 0 0 3
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 4 0 0 3 0 0 3
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 12 0 1 2 0 0 3
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 2 0 0 3
Baylor Miraca Genetics Laboratories, 0 7 0 0 1 0 1 2
Claritas Genomics 0 1 0 1 1 0 0 2
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 7 0 1 1 0 0 2
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 0 0 0 2 0 0 0 2
Laboratory of Human Genetics,Universidade de São Paulo 0 3 0 2 0 0 0 2
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 3 0 2 0 0 0 2
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 8 0 1 0 0 1 2
Centre for Genomic and Experimental Medicine,University of Edinburgh 0 4 0 0 0 0 2 2
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 2 0 2 0 0 0 2
Section on Medical Neuroendocrinolgy,National Institutes of Health 0 8 0 2 0 0 0 2
Snyder Lab, Genetics Department,Stanford University 0 0 0 1 0 1 0 2
ClinGen RASopathy Variant Curation Expert Panel, 0 5 0 0 2 0 0 2
Gharavi Laboratory,Columbia University 0 3 0 1 0 0 1 2
Center for Human Genetics, Inc 1543 7 0 0 1 0 0 1
Collagen Diagnostic Laboratory,University of Washington 0 1 0 0 0 0 1 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 3 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 4 0 0 0 1 0 1
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 4 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 2 0 1 0 0 0 1
Shaikh Laboratory, University of Colorado 0 2 0 1 0 0 0 1
Section on Endocrinology and Genetics,National Institutes of Health / The Eunice Kennedy Shriver National Institute of Child Health and Human Development 0 0 0 1 0 0 0 1
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 1 0 0 1 0 0 1
University of Washington Center for Mendelian Genomics,University of Washington 0 0 0 1 0 0 0 1
Center for Human Genetics,University of Leuven 0 0 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 0 0 0 1 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 2 0 0 0 1 0 1
Kasturba Medical College,Manipal University 0 0 0 1 0 0 0 1
ARUP Institute,ARUP Laboratories 0 3 0 0 1 0 0 1
Endocrine oncology group,Uppsala University 0 0 0 1 0 0 0 1
Genetic and Metabolic Disease Program, Children's Medical Center Research Institute,UT Southwestern Medical Center at Dallas 0 0 0 0 0 0 1 1
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust 0 0 0 1 0 0 0 1
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 0 0 0 0 0 0 1 1
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 3 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 559
Download table as spreadsheet
HGVS dbSNP
NM_000038.5(APC):c.1246dupT (p.Tyr416Leufs) rs1060503366
NM_000038.5(APC):c.2608C>T (p.Pro870Ser) rs33974176
NM_000038.5(APC):c.317G>A (p.Arg106His) rs201764637
NM_000038.5(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.5(APC):c.4348C>T (p.Arg1450Ter) rs121913332
NM_000038.5(APC):c.835-4T>G rs756807560
NM_000038.5(APC):c.937_938delGA (p.Glu313Asnfs) rs387906239
NM_000051.3(ATM):c.1065+1G>T rs201089102
NM_000051.3(ATM):c.1215delT (p.Asn405Lysfs) rs1555069815
NM_000051.3(ATM):c.8711A>G (p.Glu2904Gly) rs786202826
NM_000088.3(COL1A1):c.1691G>A (p.Arg564His) rs1800211
NM_000088.3(COL1A1):c.1984-5C>A rs66592376
NM_000088.3(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153
NM_000088.3(COL1A1):c.3099+7T>C rs201682029
NM_000088.3(COL1A1):c.3243T>C (p.Val1081=) rs1800217
NM_000088.3(COL1A1):c.3580G>A (p.Ala1194Thr) rs769571473
NM_000088.3(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946
NM_000088.3(COL1A1):c.4181A>G (p.Asn1394Ser) rs147266928
NM_000088.3(COL1A1):c.613C>G (p.Pro205Ala) rs72667032
NM_000088.3(COL1A1):c.904-9G>T rs141726413
NM_000089.3(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163
NM_000089.3(COL1A2):c.2168A>G (p.Asn723Ser) rs189374343
NM_000089.3(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907
NM_000089.3(COL1A2):c.2566-6A>G rs141088934
NM_000089.3(COL1A2):c.304C>T (p.Pro102Ser) rs189557655
NM_000089.3(COL1A2):c.3313G>A (p.Gly1105Ser) rs139851311
NM_000089.3(COL1A2):c.48C>T (p.Thr16=) rs780687409
NM_000089.3(COL1A2):c.81+8A>C rs765118884
NM_000090.3(COL3A1):c.114C>G (p.Ser38=) rs141241764
NM_000090.3(COL3A1):c.1150-13T>C rs201839712
NM_000090.3(COL3A1):c.119C>T (p.Ala40Val) rs201380807
NM_000090.3(COL3A1):c.1815+5G>A rs146652498
NM_000090.3(COL3A1):c.1816-19T>C rs114299724
NM_000090.3(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.3(COL3A1):c.2805T>C (p.Pro935=) rs111567071
NM_000090.3(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000090.3(COL3A1):c.3525+19delG rs138061246
NM_000090.3(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783
NM_000090.3(COL3A1):c.706C>T (p.Pro236Ser) rs771858477
NM_000090.3(COL3A1):c.709G>A (p.Gly237Arg) rs587779625
NM_000090.3(COL3A1):c.812G>A (p.Arg271Gln) rs112185887
NM_000093.4(COL5A1):c.1283C>T (p.Ser428Leu) rs770793962
NM_000093.4(COL5A1):c.1350C>T (p.Gly450=) rs576332528
NM_000093.4(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_000093.4(COL5A1):c.193C>T (p.Arg65Trp) rs139468527
NM_000093.4(COL5A1):c.2331+16G>A rs199654385
NM_000093.4(COL5A1):c.3259-8C>T rs146461106
NM_000093.4(COL5A1):c.341C>A (p.Ala114Asp) rs147589613
NM_000093.4(COL5A1):c.3691-9T>C rs187584029
NM_000093.4(COL5A1):c.3906+20G>A rs148053413
NM_000093.4(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509
NM_000093.4(COL5A1):c.3991G>A (p.Asp1331Asn) rs545973022
NM_000093.4(COL5A1):c.4065C>T (p.Pro1355=) rs61737906
NM_000093.4(COL5A1):c.4230+5C>T rs142248898
NM_000093.4(COL5A1):c.4410C>T (p.Pro1470=) rs41310953
NM_000093.4(COL5A1):c.5137-12C>T rs191758714
NM_000093.4(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_000093.4(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000093.4(COL5A1):c.574G>A (p.Asp192Asn) rs138579182
NM_000093.4(COL5A1):c.61C>T (p.Pro21Ser) rs548525119
NM_000093.4(COL5A1):c.787-15G>A rs150200872
NM_000093.4(COL5A1):c.924+13C>T rs199836060
NM_000093.4(COL5A1):c.996C>T (p.Asp332=) rs144763302
NM_000115.4(EDNRB):c.828G>T (p.Trp276Cys) rs104894387
NM_000138.4(FBN1):c.1027G>A (p.Gly343Arg) rs146726731
NM_000138.4(FBN1):c.1285C>T (p.Arg429Ter) rs112645512
NM_000138.4(FBN1):c.1468+5G>A rs397515757
NM_000138.4(FBN1):c.1746C>T (p.Cys582=) rs112366266
NM_000138.4(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.4(FBN1):c.1904A>G (p.Tyr635Cys) rs1555399816
NM_000138.4(FBN1):c.2051G>T (p.Cys684Phe) rs1555399763
NM_000138.4(FBN1):c.2175T>C (p.Asn725=) rs140606
NM_000138.4(FBN1):c.2678-3C>T rs747274959
NM_000138.4(FBN1):c.2895G>A (p.Glu965=) rs140591
NM_000138.4(FBN1):c.2920C>T (p.Arg974Cys) rs397514558
NM_000138.4(FBN1):c.2934C>G (p.Asp978Glu) rs138438849
NM_000138.4(FBN1):c.2956G>A (p.Ala986Thr) rs112287730
NM_000138.4(FBN1):c.306C>T (p.Cys102=) rs25388
NM_000138.4(FBN1):c.3422C>T (p.Pro1141Leu) rs2228241
NM_000138.4(FBN1):c.3423G>A (p.Pro1141=) rs140396599
NM_000138.4(FBN1):c.3464-16_3464-14delCTT rs775944757
NM_000138.4(FBN1):c.3476G>A (p.Cys1159Tyr) rs1555398524
NM_000138.4(FBN1):c.3514G>A (p.Val1172Met) rs200125037
NM_000138.4(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.4(FBN1):c.3974A>C (p.Glu1325Ala) rs794728331
NM_000138.4(FBN1):c.4337-2A>G rs794728216
NM_000138.4(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054
NM_000138.4(FBN1):c.4567C>T (p.Arg1523Ter) rs397515812
NM_000138.4(FBN1):c.4640C>T (p.Thr1547Ile) rs183306990
NM_000138.4(FBN1):c.4747+5G>C rs193922209
NM_000138.4(FBN1):c.4905C>G (p.Thr1635=) rs113115949
NM_000138.4(FBN1):c.4943-1G>A rs1555396863
NM_000138.4(FBN1):c.503G>T (p.Cys168Phe) rs1555404803
NM_000138.4(FBN1):c.5065+1G>C rs1296209846
NM_000138.4(FBN1):c.5626T>C (p.Cys1876Arg) rs1555395980
NM_000138.4(FBN1):c.5788+5G>A rs193922219
NM_000138.4(FBN1):c.6244G>T (p.Glu2082Ter) rs1052480459
NM_000138.4(FBN1):c.6314-15G>A rs200841830
NM_000138.4(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.4(FBN1):c.6491G>A (p.Cys2164Tyr) rs1555395189
NM_000138.4(FBN1):c.6594C>T (p.Pro2198=) rs111844882
NM_000138.4(FBN1):c.6681A>C (p.Ser2227=) rs363824
NM_000138.4(FBN1):c.6700G>A (p.Val2234Met) rs112084407
NM_000138.4(FBN1):c.6705A>C (p.Gly2235=) rs2229326
NM_000138.4(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228
NM_000138.4(FBN1):c.6832C>G (p.Pro2278Ala) rs363835
NM_000138.4(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.4(FBN1):c.6884G>A (p.Cys2295Tyr) rs886038949
NM_000138.4(FBN1):c.7039_7040delAT (p.Met2347Valfs) rs794728319
NM_000138.4(FBN1):c.7051G>A (p.Gly2351Ser) rs746127796
NM_000138.4(FBN1):c.7201G>T (p.Ala2401Ser) rs771260695
NM_000138.4(FBN1):c.7346A>G (p.Asn2449Ser) rs146166400
NM_000138.4(FBN1):c.762C>T (p.Pro254=) rs374318726
NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.4(FBN1):c.8038C>T (p.Arg2680Cys) rs794728283
NM_000138.4(FBN1):c.8232G>A (p.Gln2744=) rs376119827
NM_000138.4(FBN1):c.8416dup (p.Ile2806Asnfs) rs1555393538
NM_000138.4(FBN1):c.8502T>C (p.Thr2834=) rs363847
NM_000138.4(FBN1):c.8525_8529delTTAAC (p.Leu2842Profs) rs1064794130
NM_000138.4(FBN1):c.986T>C (p.Ile329Thr) rs12324002
NM_000179.2(MSH6):c.10C>T (p.Gln4Ter) rs786201042
NM_000179.2(MSH6):c.1186C>G (p.Leu396Val) rs2020908
NM_000179.2(MSH6):c.1526T>C (p.Val509Ala) rs63751005
NM_000179.2(MSH6):c.3098T>A (p.Met1033Lys) rs751035257
NM_000179.2(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875
NM_000179.2(MSH6):c.3283C>T (p.Arg1095Cys) rs376243329
NM_000179.2(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999
NM_000179.2(MSH6):c.3787C>T (p.Arg1263Cys) rs367912290
NM_000179.2(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000179.2(MSH6):c.663A>C (p.Glu221Asp) rs41557217
NM_000179.2(MSH6):c.866_867delGCinsAA (p.Gly289Glu) rs267608079
NM_000179.2(MSH6):c.942C>G (p.Ser314Arg) rs150440246
NM_000248.3(MITF):c.763C>T (p.Arg255Ter) rs1057517966
NM_000249.3(MLH1):c.1039-8T>A rs193922367
NM_000249.3(MLH1):c.1321G>A (p.Ala441Thr) rs63750365
NM_000249.3(MLH1):c.1500_1502delCAT (p.Ile501del) rs587778920
NM_000249.3(MLH1):c.1558+14G>A rs41562513
NM_000249.3(MLH1):c.1852_1853delAAinsGC (p.Lys618Ala) rs35502531
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000249.3(MLH1):c.2066A>G (p.Gln689Arg) rs63750702
NM_000249.3(MLH1):c.2070_2071insTT (p.Ile691Leufs) rs876659681
NM_000249.3(MLH1):c.2152C>T (p.His718Tyr) rs2020873
NM_000249.3(MLH1):c.245C>T (p.Thr82Ile) rs63750005
NM_000249.3(MLH1):c.655A>G (p.Ile219Val) rs1799977
NM_000249.3(MLH1):c.885-16_885-15delCT rs267607804
NM_000251.2(MSH2):c.1662-9G>A rs17218356
NM_000251.2(MSH2):c.1690A>G (p.Thr564Ala) rs55778204
NM_000251.2(MSH2):c.1787A>G (p.Asn596Ser) rs41295288
NM_000251.2(MSH2):c.2074G>T (p.Gly692Trp) rs63750232
NM_000251.2(MSH2):c.23C>T (p.Thr8Met) rs17217716
NM_000251.2(MSH2):c.2500G>A (p.Ala834Thr) rs63750757
NM_000251.2(MSH2):c.2576_2584delAATCGCAAG (p.Glu859_Gln861del) rs587781278
NM_000251.2(MSH2):c.380A>G (p.Asn127Ser) rs17217772
NM_000251.2(MSH2):c.505A>G (p.Ile169Val) rs63750716
NM_000251.2(MSH2):c.888C>G (p.Phe296Leu) rs876659918
NM_000267.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557
NM_000267.3(NF1):c.1527+5G>A rs1060500352
NM_000267.3(NF1):c.1658A>G (p.His553Arg) rs1064794274
NM_000267.3(NF1):c.1660C>T (p.Gln554Ter) rs953440640
NM_000267.3(NF1):c.1721G>A (p.Ser574Asn) rs1555613206
NM_000267.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889
NM_000267.3(NF1):c.2002-1G>A rs1555613743
NM_000267.3(NF1):c.2163T>A (p.Cys721Ter) rs1555613816
NM_000267.3(NF1):c.2288T>G (p.Leu763Arg) rs199474762
NM_000267.3(NF1):c.2294G>A (p.Arg765His) rs199474777
NM_000267.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_000267.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_000267.3(NF1):c.2533T>C (p.Cys845Arg) rs1060500254
NM_000267.3(NF1):c.2560C>T (p.Gln854Ter) rs1555614261
NM_000267.3(NF1):c.2665dupA (p.Thr889Asnfs) rs886041348
NM_000267.3(NF1):c.2798T>C (p.Leu933Pro) rs1555614342
NM_000267.3(NF1):c.2990+5G>A rs1555614464
NM_000267.3(NF1):c.3197+1G>A rs1555614653
NM_000267.3(NF1):c.3427C>T (p.His1143Tyr) rs1555614963
NM_000267.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_000267.3(NF1):c.3447G>A (p.Met1149Ile) rs1064794277
NM_000267.3(NF1):c.4172G>C (p.Arg1391Thr) rs1555618516
NM_000267.3(NF1):c.4269G>A (p.Lys1423=) rs199474750
NM_000267.3(NF1):c.4289A>T (p.Asn1430Ile) rs199474754
NM_000267.3(NF1):c.4537C>T (p.Arg1513Ter) rs760703505
NM_000267.3(NF1):c.4606dup (p.Thr1536Asnfs) rs1555619033
NM_000267.3(NF1):c.4773-1G>A rs1057518326
NM_000267.3(NF1):c.4935delT (p.Pro1646Leufs) rs1135402867
NM_000267.3(NF1):c.4972A>G (p.Ile1658Val) rs147327414
NM_000267.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_000267.3(NF1):c.5446G>A (p.Asp1816Asn) rs771597781
NM_000267.3(NF1):c.574C>T (p.Arg192Ter) rs397514641
NM_000267.3(NF1):c.655-2A>C rs1555608734
NM_000267.3(NF1):c.6579+1G>T rs1060500345
NM_000267.3(NF1):c.6611G>A (p.Trp2204Ter) rs1193716348
NM_000267.3(NF1):c.6642-17G>A rs1064795966
NM_000267.3(NF1):c.667T>C (p.Trp223Arg) rs1555608740
NM_000267.3(NF1):c.6859-16A>G rs202158964
NM_000267.3(NF1):c.7096_7101delAACTTT (p.Asn2366_Phe2367del) rs864622639
NM_000267.3(NF1):c.7263A>G (p.Leu2421=) rs753224880
NM_000267.3(NF1):c.7518delG (p.Gln2507Asnfs) rs878853917
NM_000267.3(NF1):c.7807-13dupT rs369360556
NM_000267.3(NF1):c.959C>A (p.Ala320Asp) rs1555610884
NM_000267.3(NF1):c.980T>C (p.Leu327Pro) rs201624827
NM_000314.4(PTEN):c.737C>T (p.Pro246Leu) rs587782350
NM_000314.6(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.6(PTEN):c.865_866insCT (p.Lys289Thrfs) rs1554825530
NM_000314.6(PTEN):c.975_988delTGACAAAGCAAATAinsCGCTT (p.Asp326_Val403delinsAla) rs1114167640
NM_000368.4(TSC1):c.1579C>T (p.Gln527Ter) rs118203549
NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.4(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000368.4(TSC1):c.737+3A>G rs118203439
NM_000381.3(MID1):c.1361A>G (p.Gln454Arg) rs1556004400
NM_000381.3(MID1):c.2000C>T (p.Pro667Leu) rs147106995
NM_000393.3(COL5A2):c.1301C>T (p.Thr434Met) rs145850743
NM_000393.3(COL5A2):c.1976C>T (p.Pro659Leu) rs145404046
NM_000393.3(COL5A2):c.198T>C (p.Asn66=) rs76511879
NM_000393.3(COL5A2):c.1A>G (p.Met1Val) rs563606558
NM_000393.3(COL5A2):c.2562C>T (p.Asp854=) rs148430780
NM_000393.3(COL5A2):c.261G>A (p.Thr87=) rs142044596
NM_000393.3(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175
NM_000393.4(COL5A2):c.1182G>A (p.Ala394=) rs148229627
NM_000393.4(COL5A2):c.1618-19C>G rs189970491
NM_000393.4(COL5A2):c.2032-7G>A rs141571092
NM_000393.4(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969
NM_000393.4(COL5A2):c.2554-14A>G rs142429770
NM_000393.4(COL5A2):c.3201+14C>T rs368713290
NM_000393.4(COL5A2):c.322+8T>C rs372227642
NM_000393.4(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395
NM_000393.4(COL5A2):c.3364-17C>T rs201720941
NM_000393.4(COL5A2):c.3471+8A>T rs367643805
NM_000393.4(COL5A2):c.370-16C>T rs148220961
NM_000393.4(COL5A2):c.4240G>A (p.Asp1414Asn) rs139229616
NM_000393.4(COL5A2):c.4389A>G (p.Glu1463=) rs146100075
NM_000393.4(COL5A2):c.4409C>T (p.Ala1470Val) rs140109751
NM_000393.4(COL5A2):c.4495G>T (p.Val1499Leu) rs527433112
NM_000548.3(TSC2):c.1839+6G>A rs45517204
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.4(TSC2):c.2764_2765delTT (p.Leu922Valfs) rs1555508929
NM_000548.4(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319
NM_000551.3(VHL):c.208G>A (p.Glu70Lys) rs5030802
NM_000551.3(VHL):c.257C>G (p.Pro86Arg) rs730882034
NM_000551.3(VHL):c.490C>T (p.Gln164Ter) rs5030819
NM_000551.3(VHL):c.531_542delACTGGACATCGTinsTC (p.Arg177Serfs) rs1553620331
NM_001024847.2(TGFBR2):c.1732T>A (p.Ser578Thr) rs112215250
NM_001040113.1(MYH11):c.1934C>T (p.Ser645Leu) rs771128441
NM_001040113.1(MYH11):c.3984+6T>C rs373371913
NM_001040113.1(MYH11):c.429G>A (p.Lys143=) rs200672270
NM_001040113.1(MYH11):c.4625G>A (p.Arg1542Gln) rs137934837
NM_001040113.1(MYH11):c.760C>T (p.Arg254Cys) rs150759461
NM_001042492.2(NF1):c.1392+1G>A rs267604791
NM_001042492.2(NF1):c.1393-2A>G rs1555612266
NM_001042492.2(NF1):c.1541A>C (p.Gln514Pro) rs775369084
NM_001042492.2(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.2(NF1):c.2252-2A>G rs1131691105
NM_001042492.2(NF1):c.245C>T (p.Ser82Phe) rs199474729
NM_001042492.2(NF1):c.2540T>C (p.Leu847Pro) rs199474747
NM_001042492.2(NF1):c.278G>A (p.Cys93Tyr) rs199474728
NM_001042492.2(NF1):c.3113+2T>G rs876658997
NM_001042492.2(NF1):c.3198-4T>C rs587782218
NM_001042492.2(NF1):c.3457_3460delCTCA (p.Leu1153Metfs) rs1321848637
NM_001042492.2(NF1):c.3496+19T>C rs9890283
NM_001042492.2(NF1):c.3498C>T (p.Gly1166=) rs2066733
NM_001042492.2(NF1):c.3867C>T (p.Phe1289=) rs138186428
NM_001042492.2(NF1):c.4330A>C (p.Lys1444Gln) rs137854550
NM_001042492.2(NF1):c.4339C>T (p.Gln1447Ter) rs1135402857
NM_001042492.2(NF1):c.4340A>C (p.Gln1447Pro) rs786204157
NM_001042492.2(NF1):c.4352A>C (p.Asn1451Thr) rs199474754
NM_001042492.2(NF1):c.5991G>A (p.Trp1997Ter) rs876660696
NM_001042492.2(NF1):c.6462dup (p.Glu2155Argfs) rs1135402888
NM_001042492.2(NF1):c.7298C>T (p.Thr2433Ile) rs755749772
NM_001042492.2(NF1):c.7700C>T (p.Pro2567Leu) rs754511534
NM_001042492.2(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001083962.1(TCF4):c.1876C>T (p.Arg626Ter) rs1131691735
NM_001110556.1(FLNA):c.1176G>A (p.Glu392=) rs201173693
NM_001110556.1(FLNA):c.3035C>T (p.Ser1012Leu) rs17091204
NM_001110556.1(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110792.1(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001128425.1(MUTYH):c.1187G>A (p.Gly396Asp) rs36053993
NM_001128425.1(MUTYH):c.1342C>G (p.His448Asp) rs786202133
NM_001135599.3(TGFB2):c.114G>A (p.Glu38=) rs149215818
NM_001135599.3(TGFB2):c.441G>A (p.Pro147=) rs138514914
NM_001135599.3(TGFB2):c.703G>C (p.Val235Leu) rs10482810
NM_001184880.1(PCDH19):c.3280C>G (p.Leu1094Val) rs184545774
NM_001184880.1(PCDH19):c.3319C>G (p.Arg1107Gly) rs191333060
NM_001201397.1(EDNRB):c.1184G>A (p.Ser395Asn) rs5352
NM_001456.3(FLNA):c.1191C>T (p.Ile397=) rs200048692
NM_001456.3(FLNA):c.1200G>T (p.Lys400Asn) rs781879374
NM_001456.3(FLNA):c.1579C>T (p.Arg527Cys) rs202029322
NM_001456.3(FLNA):c.1691+7C>A rs199565118
NM_001456.3(FLNA):c.1828+3A>G rs368041880
NM_001456.3(FLNA):c.1875C>T (p.Asp625=) rs200660642
NM_001456.3(FLNA):c.2313G>A (p.Lys771=) rs782741007
NM_001456.3(FLNA):c.237G>C (p.Ala79=) rs200626788
NM_001456.3(FLNA):c.2449C>T (p.Pro817Ser) rs200053635
NM_001456.3(FLNA):c.3421G>A (p.Ala1141Thr) rs201908251
NM_001456.3(FLNA):c.3522C>T (p.Thr1174=) rs373625856
NM_001456.3(FLNA):c.3678C>T (p.Pro1226=) rs377579695
NM_001456.3(FLNA):c.3805+16G>A rs201016252
NM_001456.3(FLNA):c.3876C>T (p.His1292=) rs199917719
NM_001456.3(FLNA):c.4263C>T (p.Thr1421=) rs398123618
NM_001456.3(FLNA):c.4737G>C (p.Leu1579=) rs201904661
NM_001456.3(FLNA):c.5227C>T (p.Pro1743Ser) rs56102764
NM_001456.3(FLNA):c.5565C>T (p.Val1855=) rs200787122
NM_001456.3(FLNA):c.5948C>T (p.Ser1983Leu) rs187029309
NM_001456.3(FLNA):c.62_64dupTCG (p.Val21_Asp22insVal) rs782721874
NM_001456.3(FLNA):c.7197C>T (p.Asn2399=) rs782129907
NM_001456.3(FLNA):c.7243C>T (p.Pro2415Ser) rs200198847
NM_001456.3(FLNA):c.7732+8A>G rs201663443
NM_001613.3(ACTA2):c.390T>C (p.Asn130=) rs141933412
NM_001615.3(ACTG2):c.119G>A (p.Arg40His) rs587777386
NM_001844.4(COL2A1):c.1366-13C>A rs200984998
NM_001844.4(COL2A1):c.195C>T (p.Asp65=) rs202210896
NM_001844.4(COL2A1):c.2095-4G>A rs111570218
NM_001844.4(COL2A1):c.2334C>T (p.Ala778=) rs35504014
NM_001844.4(COL2A1):c.2574C>T (p.Gly858=) rs141423593
NM_001844.4(COL2A1):c.3736G>A (p.Gly1246Ser) rs147569641
NM_001844.4(COL2A1):c.3786C>G (p.Leu1262=) rs139114389
NM_001844.4(COL2A1):c.4095T>C (p.Asn1365=) rs367625071
NM_001844.4(COL2A1):c.550G>A (p.Ala184Thr) rs201817670
NM_001844.4(COL2A1):c.85+10C>G rs769941617
NM_001854.3(COL11A1):c.1522A>G (p.Thr508Ala) rs55851925
NM_001854.3(COL11A1):c.2916+3A>G rs200515572
NM_001854.3(COL11A1):c.2921C>A (p.Pro974Gln) rs78046647
NM_001854.3(COL11A1):c.328G>C (p.Gly110Arg) rs141978499
NM_001854.3(COL11A1):c.4032G>A (p.Pro1344=) rs147637674
NM_001854.3(COL11A1):c.4140+10A>T rs187171126
NM_001854.3(COL11A1):c.4802C>A (p.Thr1601Asn) rs143206624
NM_001854.3(COL11A1):c.5198G>A (p.Arg1733His) rs140250347
NM_001999.3(FBN2):c.1040G>A (p.Arg347His) rs112428886
NM_001999.3(FBN2):c.1850-9C>T rs199937209
NM_001999.3(FBN2):c.2260G>A (p.Gly754Ser) rs145259927
NM_001999.3(FBN2):c.2427T>A (p.Ile809=) rs139686090
NM_001999.3(FBN2):c.255-18C>A rs200300875
NM_001999.3(FBN2):c.2555-7A>G rs28763949
NM_001999.3(FBN2):c.2557A>G (p.Ile853Val) rs148598779
NM_001999.3(FBN2):c.2777C>A (p.Ala926Asp) rs138429045
NM_001999.3(FBN2):c.2801G>A (p.Arg934Gln) rs376194507
NM_001999.3(FBN2):c.3217+13G>A rs572013507
NM_001999.3(FBN2):c.3394G>A (p.Val1132Ile) rs138834515
NM_001999.3(FBN2):c.3430G>A (p.Glu1144Lys) rs200060005
NM_001999.3(FBN2):c.3762C>T (p.Asp1254=) rs2279582
NM_001999.3(FBN2):c.4141C>A (p.His1381Asn) rs78727187
NM_001999.3(FBN2):c.4151G>A (p.Cys1384Tyr) rs794727560
NM_001999.3(FBN2):c.4298G>A (p.Arg1433His) rs143462011
NM_001999.3(FBN2):c.436+16G>A rs372098570
NM_001999.3(FBN2):c.4454A>G (p.Asp1485Gly) rs199665922
NM_001999.3(FBN2):c.4647C>T (p.Asn1549=) rs146662880
NM_001999.3(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.3(FBN2):c.5353+11G>A rs572393472
NM_001999.3(FBN2):c.5353+19C>T rs183524866
NM_001999.3(FBN2):c.5496C>T (p.Arg1832=) rs35346129
NM_001999.3(FBN2):c.5549-18G>A rs371995872
NM_001999.3(FBN2):c.6982G>T (p.Ala2328Ser) rs199910288
NM_001999.3(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926
NM_001999.3(FBN2):c.728T>C (p.Ile243Thr) rs117524265
NM_001999.3(FBN2):c.738G>A (p.Ala246=) rs150087436
NM_001999.3(FBN2):c.7471+6G>A rs200998513
NM_001999.3(FBN2):c.8304C>T (p.Asn2768=) rs28763920
NM_001999.3(FBN2):c.8364+7A>T rs185052980
NM_001999.3(FBN2):c.953-8T>G rs201818403
NM_001999.3(FBN2):c.976C>T (p.Pro326Ser) rs28763954
NM_002474.2(MYH11):c.1034-12T>G rs184847335
NM_002474.2(MYH11):c.12G>A (p.Lys4=) rs112650390
NM_002474.2(MYH11):c.1512C>T (p.Ile504=) rs149630866
NM_002474.2(MYH11):c.217A>C (p.Lys73Gln) rs147447269
NM_002474.2(MYH11):c.2412-9C>A rs148682361
NM_002474.2(MYH11):c.3031T>C (p.Leu1011=) rs112861184
NM_002474.2(MYH11):c.3293+6G>A rs370658839
NM_002474.2(MYH11):c.3652-6C>T rs193922630
NM_002474.2(MYH11):c.3828G>A (p.Ala1276=) rs113154524
NM_002474.2(MYH11):c.3874G>A (p.Val1292Ile) rs151058774
NM_002474.2(MYH11):c.3928G>A (p.Val1310Met) rs7196804
NM_002474.2(MYH11):c.4240G>A (p.Ala1414Thr) rs112467954
NM_002474.2(MYH11):c.4506C>T (p.Leu1502=) rs76890940
NM_002474.2(MYH11):c.4579-14C>T rs377410503
NM_002474.2(MYH11):c.4791+4C>T rs142108062
NM_002474.2(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232
NM_002474.2(MYH11):c.5160C>T (p.Ser1720=) rs199564260
NM_002474.2(MYH11):c.5450C>T (p.Ala1817Val) rs142654744
NM_002474.2(MYH11):c.5516C>T (p.Ala1839Val) rs112948385
NM_002474.2(MYH11):c.5566C>T (p.Leu1856=) rs142639688
NM_002474.2(MYH11):c.5635G>A (p.Val1879Ile) rs138206921
NM_002474.2(MYH11):c.5800A>T (p.Thr1934Ser) rs113667224
NM_002474.2(MYH11):c.792T>C (p.Tyr264=) rs34341838
NM_002474.2(MYH11):c.914A>G (p.Asn305Ser) rs185661462
NM_002769.4(PRSS1):c.365G>A (p.Arg122His) rs111033565
NM_002769.4(PRSS1):c.47C>T (p.Ala16Val) rs202003805
NM_002769.4(PRSS1):c.86A>T (p.Asn29Ile) rs111033566
NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002880.3(RAF1):c.119G>A (p.Arg40His) rs192632236
NM_003000.2(SDHB):c.136C>T (p.Arg46Ter) rs74315370
NM_003000.2(SDHB):c.137G>A (p.Arg46Gln) rs772551056
NM_003000.2(SDHB):c.286+2T>A rs587781270
NM_003000.2(SDHB):c.287G>A (p.Gly96Asp) rs778952116
NM_003000.2(SDHB):c.380T>G (p.Ile127Ser) rs786201095
NM_003000.2(SDHB):c.487T>C (p.Ser163Pro) rs33927012
NM_003000.2(SDHB):c.600G>A (p.Trp200Ter) rs397516836
NM_003002.3(SDHD):c.242C>T (p.Pro81Leu) rs80338844
NM_003002.3(SDHD):c.317G>T (p.Gly106Val) rs1555187574
NM_003122.4(SPINK1):c.101A>G (p.Asn34Ser) rs17107315
NM_003122.4(SPINK1):c.163C>T (p.Pro55Ser) rs111966833
NM_003122.4(SPINK1):c.206C>T (p.Thr69Ile) rs576564400
NM_003159.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564
NM_003159.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_003159.2(CDKL5):c.99+1G>T rs267608421
NM_003238.4(TGFB2):c.896G>A (p.Arg299Gln) rs1057521150
NM_003242.5(TGFBR2):c.1062C>T (p.Leu354=) rs113194608
NM_003242.5(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192
NM_003242.5(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.5(TGFBR2):c.1159G>T (p.Val387Leu) rs35766612
NM_003242.5(TGFBR2):c.1489C>T (p.Arg497Ter) rs863223852
NM_003242.5(TGFBR2):c.1525-7G>A rs377499122
NM_003482.3(KMT2D):c.10233C>T (p.Asp3411=) rs148688181
NM_003482.3(KMT2D):c.10999C>T (p.Gln3667Ter) rs1555189038
NM_003482.3(KMT2D):c.11141G>A (p.Arg3714Lys) rs186696516
NM_003482.3(KMT2D):c.11220_11222dupGCA (p.Gln3745_His3746insGln) rs398123707
NM_003482.3(KMT2D):c.11290C>T (p.Gln3764Ter) rs587783682
NM_003482.3(KMT2D):c.11422delG (p.Ala3808Leufs) rs1555188704
NM_003482.3(KMT2D):c.1143delC (p.Thr382Leufs) rs1064796125
NM_003482.3(KMT2D):c.11692C>T (p.Gln3898Ter) rs398123708
NM_003482.3(KMT2D):c.11743C>T (p.Gln3915Ter) rs1555188518
NM_003482.3(KMT2D):c.11756_11758dup (p.Gln3919_Leu3920insGln) rs1555188499
NM_003482.3(KMT2D):c.12634C>T (p.Arg4212Trp) rs760279999
NM_003482.3(KMT2D):c.12896delG (p.Gly4299Aspfs) rs587783686
NM_003482.3(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689
NM_003482.3(KMT2D):c.13671+10dupC rs147210845
NM_003482.3(KMT2D):c.13996_13997delAG (p.Arg4666Glyfs) rs587783693
NM_003482.3(KMT2D):c.14080G>C (p.Glu4694Gln) rs587778483
NM_003482.3(KMT2D):c.14713C>T (p.Gln4905Ter) rs1555186053
NM_003482.3(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.3(KMT2D):c.15088C>T (p.Arg5030Cys) rs1555185875
NM_003482.3(KMT2D):c.15143G>A (p.Arg5048His) rs886041404
NM_003482.3(KMT2D):c.15461G>A (p.Arg5154Gln) rs886043497
NM_003482.3(KMT2D):c.15536G>A (p.Arg5179His) rs267607237
NM_003482.3(KMT2D):c.15797G>A (p.Arg5266His) rs201481646
NM_003482.3(KMT2D):c.16295G>A (p.Arg5432Gln) rs398123734
NM_003482.3(KMT2D):c.16342C>T (p.Arg5448Ter) rs1422752351
NM_003482.3(KMT2D):c.16489_16491delATC (p.Ile5497del) rs587783704
NM_003482.3(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
NM_003482.3(KMT2D):c.1940delC (p.Pro647Hisfs) rs770315135
NM_003482.3(KMT2D):c.2156C>T (p.Pro719Leu) rs185660524
NM_003482.3(KMT2D):c.4135_4136delAT (p.Met1379Valfs) rs398123744
NM_003482.3(KMT2D):c.4163G>T (p.Arg1388Leu) rs202217665
NM_003482.3(KMT2D):c.4401C>T (p.Gly1467=) rs192659833
NM_003482.3(KMT2D):c.6595delT (p.Tyr2199Ilefs) rs398123753
NM_003482.3(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869
NM_003482.3(KMT2D):c.6733C>G (p.Leu2245Val) rs201931833
NM_003482.3(KMT2D):c.6752C>T (p.Ser2251Leu) rs189199944
NM_003482.3(KMT2D):c.7046C>T (p.Pro2349Leu) rs201581582
NM_003482.3(KMT2D):c.7301C>A (p.Ala2434Asp) rs201114196
NM_003482.3(KMT2D):c.7705G>A (p.Gly2569Ser) rs201507971
NM_003482.3(KMT2D):c.7998C>A (p.Asp2666Glu) rs1258008817
NM_003482.3(KMT2D):c.8053C>T (p.Arg2685Ter) rs587783727
NM_003482.3(KMT2D):c.8171_8175delCCAGC (p.Pro2724Glnfs) rs587783728
NM_003482.3(KMT2D):c.8401C>T (p.Arg2801Ter) rs1555191203
NM_003482.3(KMT2D):c.8743C>T (p.Arg2915Ter) rs587783729
NM_003482.3(KMT2D):c.8774C>T (p.Ala2925Val) rs199547661
NM_003482.3(KMT2D):c.9343C>T (p.Leu3115Phe) rs587778471
NM_004333.5(BRAF):c.1783T>C (p.Phe595Leu) rs794729219
NM_004333.5(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.5(BRAF):c.78G>T (p.Glu26Asp) rs371877084
NM_004458.2(ACSL4):c.1698-10G>A rs193072191
NM_004463.2(FGD1):c.527dup (p.Leu177Thrfs) rs756586058
NM_004586.2(RPS6KA3):c.2185C>T (p.Arg729Trp) rs1555924331
NM_004612.2(TGFBR1):c.415A>G (p.Ile139Val) rs148176750
NM_004612.3(TGFBR1):c.1125A>C (p.Thr375=) rs7861780
NM_004992.3(MECP2):c.1126C>T (p.Pro376Ser) rs61752387
NM_004992.3(MECP2):c.1330G>A (p.Ala444Thr) rs61753975
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.840delC (p.Ala281Profs) rs1557136332
NM_005249.4(FOXG1):c.218A>C (p.Gln73Pro) rs760663911
NM_005249.4(FOXG1):c.256C>T (p.Gln86Ter) rs398124202
NM_005343.4(HRAS):c.81T>C (p.His27=) rs12628
NM_005902.3(SMAD3):c.207-10G>A rs201912204
NM_005902.3(SMAD3):c.401-6G>A rs745672741
NM_005902.3(SMAD3):c.607+9T>A rs886051380
NM_005902.3(SMAD3):c.860G>A (p.Arg287Gln) rs730880214
NM_006258.4(PRKG1):c.1071A>G (p.Lys357=) rs75650199
NM_006258.4(PRKG1):c.1174-7_1174-4del rs762325343
NM_006258.4(PRKG1):c.1963-16T>G rs376174664
NM_006772.2(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670
NM_006772.2(SYNGAP1):c.3582+7T>C rs370618729
NM_006941.3(SOX10):c.1107delC (p.Tyr369Terfs) rs1555937390
NM_006941.3(SOX10):c.141delG (p.Pro48Glnfs) rs1064796049
NM_007272.2(CTRC):c.533A>G (p.Gln178Arg) rs200678111
NM_014728.3(FRMPD4):c.3937C>A (p.Arg1313=) rs41303149
NM_014795.3(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836
NM_014795.3(ZEB2):c.2230A>G (p.Ile744Val) rs112005830
NM_017617.5(NOTCH1):c.1669+13G>A rs147260092
NM_017617.5(NOTCH1):c.1787C>T (p.Thr596Met) rs61755997
NM_017617.5(NOTCH1):c.186G>C (p.Pro62=) rs374320445
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys) rs79782048
NM_017617.5(NOTCH1):c.2136C>A (p.Thr712=) rs369346436
NM_017617.5(NOTCH1):c.2206G>A (p.Gly736Arg) rs201662530
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=) rs61751545
NM_017617.5(NOTCH1):c.3644-4G>A rs376161552
NM_017617.5(NOTCH1):c.3860G>A (p.Arg1287His)
NM_017617.5(NOTCH1):c.4049G>T (p.Arg1350Leu) rs150343794
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600
NM_017617.5(NOTCH1):c.4407C>T (p.Asn1469=) rs202231073
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=) rs61751539
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=) rs568700183
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=) rs61751538
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=) rs35980907
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=) rs186453356
NM_017617.5(NOTCH1):c.6227C>T (p.Thr2076Ile) rs1022510242
NM_017617.5(NOTCH1):c.6291G>A (p.Pro2097=) rs201987555
NM_017617.5(NOTCH1):c.6733G>A (p.Gly2245Arg) rs201613894
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His) rs150737112
NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val) rs61755043
NM_017780.3(CHD7):c.1397C>T (p.Ser466Leu) rs71640285
NM_017780.3(CHD7):c.1565G>T (p.Gly522Val) rs142962579
NM_017780.3(CHD7):c.2053_2058dupGCAAAA (p.Lys686_Thr687insAlaLys) rs377139749
NM_017780.3(CHD7):c.3379-2A>C rs864622523
NM_017780.3(CHD7):c.712G>A (p.Val238Met) rs200898742
NM_020975.4(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.4(RET):c.2071G>A (p.Gly691Ser) rs1799939
NM_020975.4(RET):c.2671T>G (p.Ser891Ala) rs75234356
NM_020975.4(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_020975.4(RET):c.2944C>T (p.Arg982Cys) rs17158558
NM_022455.4(NSD1):c.4498-10delT rs200890017
NM_022455.4(NSD1):c.4966+15T>C rs587784130
NM_022455.4(NSD1):c.6050G>A (p.Arg2017Gln) rs587784177
NM_022455.4(NSD1):c.6259-8A>T rs370529039
NM_022455.4(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751
NM_022844.2(MYH11):c.5787-11_5787-8delCTCT rs747642850
NM_053025.3(MYLK):c.1007C>T (p.Pro336Leu) rs35912339
NM_053025.3(MYLK):c.1474G>A (p.Ala492Thr) rs143010767
NM_053025.3(MYLK):c.1609G>A (p.Val537Ile) rs199988497
NM_053025.3(MYLK):c.1968G>T (p.Trp656Cys) rs138172035
NM_053025.3(MYLK):c.2253C>T (p.Thr751=) rs138777049
NM_053025.3(MYLK):c.2693G>A (p.Arg898Gln) rs145507832
NM_053025.3(MYLK):c.3032C>T (p.Ser1011Phe) rs200423083
NM_053025.3(MYLK):c.3242A>G (p.His1081Arg) rs113491038
NM_053025.3(MYLK):c.3832-6C>T rs185681684
NM_053025.3(MYLK):c.3898G>A (p.Ala1300Thr) rs149530842
NM_053025.3(MYLK):c.5368+13_5368+21delTTCTCCAGC rs146990616
NM_053025.3(MYLK):c.5369-10T>G rs373584324
NM_053025.3(MYLK):c.593A>G (p.Asn198Ser) rs201835018
NM_053025.3(MYLK):c.619G>A (p.Val207Met) rs756560698
NM_053025.3(MYLK):c.755-12C>T rs138877679
NM_080680.2(COL11A2):c.1382G>A (p.Gly461Asp) rs141140798
NM_080680.2(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142
NM_080680.2(COL11A2):c.2271C>T (p.Gly757=) rs745568808
NM_080680.2(COL11A2):c.2921C>T (p.Ala974Val) rs376797260
NM_080680.2(COL11A2):c.4521G>A (p.Gln1507=) rs114580597
NM_080680.2(COL11A2):c.5000G>A (p.Arg1667His) rs146555195
NM_080680.2(COL11A2):c.706C>T (p.Pro236Ser) rs35116188
NM_130799.2(MEN1):c.1409C>T (p.Pro470Leu) rs750112288
NM_130799.2(MEN1):c.3G>A (p.Met1Ile) rs786204242
NM_130799.2(MEN1):c.512G>A (p.Arg171Gln) rs607969
NM_152594.2(SPRED1):c.926T>C (p.Val309Ala) rs114636635
NM_176795.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_181457.3(PAX3):c.525G>C (p.Lys175Asn) rs116473352
NM_181459.3(PAX3):c.142G>C (p.Gly48Arg) rs1419548558
NM_198159.2(MITF):c.649C>T (p.Arg217Ter) rs1553702006
NM_207034.2(EDN3):c.293C>A (p.Thr98Lys) rs745795470

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