ClinVar Miner

Variants from OLLIN Analises Genomicas, OLLIN with conflicting interpretations

Location: Brazil  Primary collection method: clinical testing
Minimum review status of the submission from OLLIN Analises Genomicas, OLLIN: Collection method of the submission from OLLIN Analises Genomicas, OLLIN:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
173 95 9 105 3 0 43 133

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
OLLIN Analises Genomicas, OLLIN pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 8 62 11 1 1
likely pathogenic 43 1 18 0 0
uncertain significance 5 8 0 3 0

Submitter to submitter summary #

Total submitters: 112
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
Labcorp Genetics (formerly Invitae), Labcorp 0 55 4 20 1 0 0 25
Fulgent Genetics, Fulgent Genetics 0 44 0 12 0 0 6 18
Baylor Genetics 0 52 0 15 0 0 2 17
OMIM 0 56 2 12 0 0 2 16
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 16 0 10 0 0 4 14
Natera, Inc. 0 24 0 8 0 0 4 12
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 43 0 12 0 0 0 12
Mendelics 0 40 0 6 0 0 5 11
3billion 0 34 0 4 0 0 4 8
Department of Pathology and Laboratory Medicine, Sinai Health System 0 20 1 4 0 0 3 8
Illumina Laboratory Services, Illumina 0 24 0 5 0 0 3 8
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 28 0 5 0 0 3 8
Myriad Genetics, Inc. 0 20 0 5 2 0 0 7
Revvity Omics, Revvity 0 30 0 5 0 0 2 7
Color Diagnostics, LLC DBA Color Health 0 1 0 2 0 0 4 6
Counsyl 0 12 0 2 0 0 4 6
Genomics England Pilot Project, Genomics England 0 1 0 6 0 0 0 6
Institute of Human Genetics, University of Leipzig Medical Center 0 34 0 4 0 0 2 6
Neuberg Centre For Genomic Medicine, NCGM 0 17 0 3 0 0 3 6
Variantyx, Inc. 0 21 0 5 0 0 1 6
All of Us Research Program, National Institutes of Health 0 4 0 1 0 0 3 4
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 6 0 4 0 0 0 4
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 1 0 3 0 0 1 4
MGZ Medical Genetics Center 0 18 0 4 0 0 0 4
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 12 0 3 0 0 0 3
Molecular Biology Laboratory, Fundació Puigvert 0 0 0 2 0 0 1 3
Undiagnosed Diseases Network, NIH 0 4 0 1 0 0 2 3
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 7 0 0 0 0 2 2
Dasa 0 20 0 2 0 0 0 2
Department of Human Genetics, Hannover Medical School 0 10 0 2 0 0 0 2
Division of Human Genetics, Children's Hospital of Philadelphia 0 5 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 9 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 1 0 0 1 2
Genetic Services Laboratory, University of Chicago 0 14 0 1 0 0 1 2
Genetics and Molecular Pathology, SA Pathology 0 10 0 0 0 0 2 2
Genome-Nilou Lab 0 15 0 0 0 0 2 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 15 0 2 0 0 0 2
Institute of Medical Molecular Genetics, University of Zurich 0 0 0 2 0 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 11 0 2 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 11 0 2 0 0 0 2
Lifecell International Pvt. Ltd 0 2 0 2 0 0 0 2
Otogenetics 0 1 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 12 0 2 0 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 1 0 0 1 2
Suma Genomics 0 0 0 0 0 0 2 2
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 38 0 0 0 0 2 2
Ambry Genetics 0 3 0 1 0 0 0 1
Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham 0 0 0 0 0 0 1 1
Arcensus 0 0 0 1 0 0 0 1
Blueprint Genetics 0 3 0 1 0 0 0 1
CENTOGENE GmbH and LLC - Guiding Precision Medicine 0 9 0 1 0 0 0 1
Cambridge Genomics Laboratory, East Genomic Laboratory Hub, NHS Genomic Medicine Service 0 0 0 0 0 0 1 1
Catlab - Consorci Sanitari de Terrassa 0 0 0 0 0 0 1 1
CeGaT Center for Human Genetics Tuebingen 0 1 0 0 0 0 1 1
Cellular and Molecular Medicine Research Institute, Urmia University of Medical Sciences 0 1 0 0 0 0 1 1
Center for Molecular Medicine, Children’s Hospital of Fudan University 0 0 0 1 0 0 0 1
Center of Genomic medicine, Geneva, University Hospital of Geneva 0 1 1 0 0 0 0 1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille 0 2 0 1 0 0 0 1
Centre for Medical Genetics, Mumbai 0 0 0 0 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 12 0 0 0 0 1 1
Centre of Medical Genetics, University Hospital Muenster 0 1 0 1 0 0 0 1
ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel 0 0 0 0 0 0 1 1
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 8 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 5 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 5 0 0 0 0 1 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 8 0 0 0 0 1 1
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital 0 0 0 1 0 0 0 1
DBGen Ocular Genomics 0 0 0 0 0 0 1 1
Daryl Scott Lab, Baylor College of Medicine 0 2 0 1 0 0 0 1
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 5 1 0 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 0 0 1 0 0 0 1
Department of Genetics, Sultan Qaboos University Hospital 0 1 0 1 0 0 0 1
Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital 0 1 0 1 0 0 0 1
Department of Pediatric Oncology, Hematology and Clinical Immunology, University Clinics Duesseldorf 0 0 0 0 0 0 1 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 7 0 1 0 0 0 1
Elsea Laboratory, Baylor College of Medicine 0 3 0 0 0 0 1 1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System 0 0 0 1 0 0 0 1
Genetics Department, Catlab 0 0 0 0 0 0 1 1
Genetics and Genomic Medicine Centre, NeuroGen Healthcare, NeuroGen Healthcare 0 2 0 1 0 0 0 1
GeniaGeo, Laboratorio Genia 0 0 0 1 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 6 0 1 0 0 0 1
Hadassah Hebrew University Medical Center 0 3 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 8 0 1 0 0 0 1
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 0 0 1 0 0 0 1
Institute for Human Genetics, University Hospital Essen 0 0 0 1 0 0 0 1
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg 0 1 0 1 0 0 0 1
Institute of Immunology and Genetics Kaiserslautern 0 5 0 1 0 0 0 1
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 0 0 1 0 0 0 1
Juno Genomics, Hangzhou Juno Genomics, Inc 0 17 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 4 0 1 0 0 0 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 13 0 1 0 0 0 1
LDLR-LOVD, British Heart Foundation 0 0 0 0 0 0 1 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 0 0 1 0 0 0 1
Lab De Baere, Eye and Developmental Genetics Lab, Ghent University 0 0 0 1 0 0 0 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum 0 0 0 1 0 0 0 1
Laboratory Cellgenetics, GMDL Cellgenetics 0 0 0 1 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 0 0 0 0 1 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 1 0 0 0 1
MVZ Martinsried, Medicover Genetics 0 1 0 1 0 0 0 1
Medical and Scientific Branch, Hong Kong Genome Institute 0 2 0 1 0 0 0 1
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 0 0 0 0 0 0 1 1
New York Genome Center 0 15 0 1 0 0 0 1
Ocular Genomics Institute, Massachusetts Eye and Ear 0 2 0 1 0 0 0 1
Pars Genome Lab 0 1 0 0 0 0 1 1
Reproductive Health Research and Development, BGI Genomics 0 3 1 0 0 0 0 1
Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice-Université Côte d'Azur 0 0 0 1 0 0 0 1
Solve-RD Consortium 0 0 0 1 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 1 0 1 0 0 0 1
True Health Diagnostics 0 0 0 1 0 0 0 1
UCLA Clinical Genomics Center, UCLA 0 0 0 1 0 0 0 1
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 5 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 133
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000041.4(APOE):c.388T>C (p.Cys130Arg) rs429358 0.16059
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06828
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03738
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580 0.02788
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807 0.01259
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00476
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00408
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00391
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00293
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_201631.4(TGM5):c.337G>T (p.Gly113Cys) rs112292549 0.00252
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter) rs10250779 0.00166
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys) rs149617956 0.00158
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00151
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) rs28931570 0.00137
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941 0.00133
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00107
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620 0.00102
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00068
NM_000153.4(GALC):c.349A>G (p.Met117Val) rs145580093 0.00057
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00048
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_201548.5(CERKL):c.769C>T (p.Arg257Ter) rs121909398 0.00039
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr) rs202201763 0.00036
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter) rs115209243 0.00031
NM_001383.6(DPH1):c.359T>C (p.Leu120Pro) rs200530055 0.00029
NM_016146.6(TRAPPC4):c.454+3A>G rs375776811 0.00025
NM_012452.3(TNFRSF13B):c.236A>G (p.Tyr79Cys) rs72553876 0.00018
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00015
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) rs34647222 0.00014
NM_014889.4(PITRM1):c.2792C>T (p.Thr931Met) rs187308159 0.00011
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser) rs137854526 0.00011
NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met) rs369641941 0.00009
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145 0.00009
NM_015937.6(PIGT):c.1582G>A (p.Val528Met) rs771157170 0.00007
NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu) rs573992101 0.00007
NM_138413.4(HOGA1):c.569C>T (p.Pro190Leu) rs202047589 0.00007
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met) rs200290721 0.00006
NM_016122.3(CEP83):c.907C>T (p.Arg303Ter) rs757301110 0.00006
NM_022124.6(CDH23):c.6050-15G>A rs373838930 0.00006
NM_000053.4(ATP7B):c.1285+5G>T rs370579582 0.00005
NM_000520.6(HEXA):c.533G>A (p.Arg178His) rs28941770 0.00005
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys) rs370471092 0.00005
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000 0.00004
NM_000257.4(MYH7):c.4348G>A (p.Asp1450Asn) rs397516211 0.00004
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338 0.00004
NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter) rs529495094 0.00004
NM_012123.4(MTO1):c.1450C>T (p.Arg484Trp) rs748152539 0.00004
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp) rs770485731 0.00003
NM_000155.4(GALT):c.512T>C (p.Phe171Ser) rs111033715 0.00003
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter) rs758195453 0.00003
NM_016111.4(TELO2):c.1207C>T (p.Arg403Ter) rs572431474 0.00003
NM_020461.4(TUBGCP6):c.2066-6A>G rs368765755 0.00003
NM_000016.6(ACADM):c.617G>A (p.Arg206His) rs200724875 0.00002
NM_000260.4(MYO7A):c.6487G>A (p.Gly2163Ser) rs747656448 0.00002
NM_005340.7(HINT1):c.334C>A (p.His112Asn) rs373849532 0.00002
NM_130468.4(CHST14):c.784G>A (p.Glu262Lys) rs1247205097 0.00002
NM_000082.4(ERCC8):c.618-1G>A rs201464610 0.00001
NM_000094.4(COL7A1):c.5188C>T (p.Arg1730Ter) rs746053763 0.00001
NM_000179.3(MSH6):c.1646C>G (p.Ser549Cys) rs200447622 0.00001
NM_000277.3(PAH):c.490A>G (p.Ile164Val) rs199475647 0.00001
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383 0.00001
NM_000478.6(ALPL):c.668G>A (p.Arg223Gln) rs199665722 0.00001
NM_000540.3(RYR1):c.8026C>T (p.Arg2676Trp) rs193922826 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001042702.5(PJVK):c.547C>T (p.Arg183Trp) rs111706634 0.00001
NM_001080.3(ALDH5A1):c.608C>T (p.Pro203Leu) rs906284769 0.00001
NM_001128126.3(AP4S1):c.294+1G>T rs886041127 0.00001
NM_001354712.2(THRB):c.1357C>G (p.Pro453Ala) rs28933408 0.00001
NM_001369.3(DNAH5):c.8314C>T (p.Arg2772Ter) rs781469274 0.00001
NM_002439.5(MSH3):c.2179C>T (p.Arg727Ter) rs376667075 0.00001
NM_002496.4(NDUFS8):c.307C>T (p.Arg103Trp) rs867723941 0.00001
NM_006412.4(AGPAT2):c.493-1G>C rs606231168 0.00001
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424 0.00001
NM_017617.5(NOTCH1):c.4867G>A (p.Glu1623Lys) rs187112709 0.00001
NM_018075.5(ANO10):c.124A>T (p.Lys42Ter) rs768831597 0.00001
NM_145239.3(PRRT2):c.959C>T (p.Ala320Val) rs1301400509 0.00001
NM_000018.4(ACADVL):c.604C>G (p.Leu202Val) rs2071234346
NM_000070.3(CAPN3):c.1456C>T (p.Gln486Ter) rs2141199686
NM_000143.4(FH):c.40dup (p.Leu14fs) rs1060500900
NM_000256.3(MYBPC3):c.3662del (p.Leu1221fs) rs863225107
NM_000256.3(MYBPC3):c.913_914delTT rs397516080
NM_000292.3(PHKA2):c.2735T>C (p.Met912Thr) rs1158193880
NM_000292.3(PHKA2):c.2785G>C (p.Ala929Pro) rs1324893950
NM_000321.3(RB1):c.1338C>A (p.Tyr446Ter) rs1593455621
NM_000397.4(CYBB):c.626A>G (p.His209Arg) rs151344482
NM_000443.4(ABCB4):c.1469T>C (p.Ile490Thr) rs1562976223
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000536.4(RAG2):c.829dup (p.Tyr277fs) rs1851074524
NM_000553.6(WRN):c.3150G>A (p.Trp1050Ter) rs2130417119
NM_001042492.3(NF1):c.7184T>G (p.Leu2395Ter) rs2508780368
NM_001080517.3(SETD5):c.2003C>G (p.Ser668Ter) rs2125281306
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) rs796053216
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs) rs530719719
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs) rs567500345
NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro) rs754521581
NM_001943.5(DSG2):c.882dup (p.Val295fs) rs1187924885
NM_002435.3(MPI):c.796G>A (p.Glu266Lys) rs1595822583
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_004113.6(FGF12):c.155G>A (p.Arg52His) rs886039903
NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu) rs121909731
NM_005609.4(PYGM):c.501dup (p.Asn168Ter) rs1555136390
NM_005629.4(SLC6A8):c.942_944del (p.Phe315del) rs2091467532
NM_006015.6(ARID1A):c.3230C>A (p.Ala1077Glu) rs1030084592
NM_006261.5(PROP1):c.301_302del (p.Leu102fs) rs193922688
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser) rs200895671
NM_017646.6(TRIT1):c.334del (p.Arg112fs) rs536000212
NM_017871.6(INTS11):c.936dup (p.Ala313fs) rs556125116
NM_019042.5(PUS7):c.398+1G>T rs1264890888
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847
NM_022369.4(STRA6):c.527dup (p.Ser177fs) rs606231127
NM_024422.6(DSC2):c.2112_2116del (p.Phe708fs) rs1555637555
NM_024911.7(WLS):c.1606C>T (p.Arg536Cys) rs773311381
NM_032043.3(BRIP1):c.3167C>G (p.Ser1056Ter) rs1603275438
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln) rs1331463984
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln) rs146649803
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_177559.3(CSNK2A1):c.583C>T (p.Arg195Ter) rs1034583315
NM_201548.5(CERKL):c.237_238+13del rs746128841
NM_213599.3(ANO5):c.1359C>G (p.Tyr453Ter) rs754889480

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