Variants from Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine with conflicting interpretations

Minimum review status of the submission from Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the submission from Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine:	clinical testing curation literature only research other
Minimum review status of the other submission:	★☆☆☆ criteria provided ★★★☆ reviewed by expert panel ★★★★ practice guideline	Collection method of the other submission:	clinical testing curation literature only research other
Minimum conflict level: confidence conflict (e.g. benign vs likely benign) benign or likely benign vs uncertain conflict category conflict (e.g. benign vs affects) clinically significant conflict (e.g. benign vs pathogenic) Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)

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
687	201	0	94	185	1	71	335

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
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine		pathogenic	likely pathogenic	uncertain significance	likely benign	benign	protective	other
	pathogenic	0	35	12	3	2	1	1
	likely pathogenic	56	0	37	11	10	1	1
	uncertain significance	9	6	0	8	7	1	1
	likely benign	1	1	172	0	5	0	0
	benign	0	0	1	1	0	0	0

Submitter to submitter summary #

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
Ambry Genetics	0	43	0	5	76	0	5	84
Color Diagnostics, LLC DBA Color Health	0	3	0	1	69	0	1	71
Genome-Nilou Lab	0	8	0	2	40	0	1	43
Baylor Genetics	0	10	0	7	26	0	7	39
OMIM	0	82	0	29	0	0	6	34
All of Us Research Program, National Institutes of Health	0	1	0	0	30	0	3	33
Labcorp Genetics (formerly Invitae), Labcorp	0	45	0	7	5	0	18	29
GeneDx	0	10	0	10	0	0	13	22
CeGaT Center for Human Genetics Tuebingen	0	4	0	1	4	0	14	18
Breast Cancer Information Core (BIC) (BRCA1)	0	0	0	0	10	0	2	12
Counsyl	0	0	0	0	11	0	1	12
Illumina Laboratory Services, Illumina	0	7	0	3	8	0	2	12
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre	0	7	0	6	1	0	4	10
Revvity Omics, Revvity	0	4	0	9	0	0	2	10
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	0	15	0	3	0	0	7	10
Genetic Services Laboratory, University of Chicago	0	3	0	2	0	0	7	9
Mendelics	0	6	0	2	1	0	6	9
Eurofins Ntd Llc (ga)	0	1	0	2	1	1	7	8
3billion	0	9	0	6	0	0	1	7
Institute of Human Genetics, University of Leipzig Medical Center	0	1	0	4	2	0	1	7
Sema4, Sema4	0	2	0	1	6	0	0	7
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard	0	4	0	6	0	0	1	6
Department of Pathology and Laboratory Medicine, Sinai Health System	0	2	0	0	1	0	5	6
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein	0	3	0	5	0	0	2	6
Mayo Clinic Laboratories, Mayo Clinic	0	0	0	2	1	0	5	6
Sharing Clinical Reports Project (SCRP)	0	0	0	0	5	0	1	6
Athena Diagnostics	0	0	0	1	1	0	5	5
Laboratory of Medical Genetics, National & Kapodistrian University of Athens	0	0	0	5	0	0	0	5
PreventionGenetics, part of Exact Sciences	0	2	0	0	1	0	4	5
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	0	8	0	4	1	0	0	5
BRCAlab, Lund University	0	0	0	1	3	0	0	4
Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City	0	1	0	4	0	0	0	4
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	0	3	0	4	1	0	1	4
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	0	1	0	1	0	0	3	4
Neuberg Centre For Genomic Medicine, NCGM	0	2	0	4	0	0	0	4
Variantyx, Inc.	0	4	0	4	0	0	0	4
Breakthrough Genomics, Breakthrough Genomics	0	3	0	1	2	0	1	3
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	0	0	0	0	0	0	3	3
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	0	0	0	0	0	0	3	3
Clinical Genetics Laboratory, Skane University Hospital Lund	0	0	0	1	0	0	3	3
Daryl Scott Lab, Baylor College of Medicine	0	0	0	2	0	0	2	3
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	0	0	0	0	1	0	2	3
Genome Diagnostics Laboratory, University Medical Center Utrecht	0	0	0	0	0	0	3	3
Laboratory of Genetics, Children's Clinical University Hospital Latvia	0	0	0	1	0	0	2	3
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine	1219	1	0	3	0	0	1	3
Myriad Genetics, Inc.	0	8	0	2	0	0	1	3
Natera, Inc.	0	3	0	2	0	0	1	3
Quest Diagnostics Nichols Institute San Juan Capistrano	0	0	0	1	2	0	1	3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego	0	3	0	3	0	0	1	3
St. Jude Molecular Pathology, St. Jude Children's Research Hospital	0	0	0	0	2	0	1	3
CENTOGENE GmbH and LLC - Guiding Precision Medicine	0	1	0	2	0	0	0	2
Clinical Genetics, Academic Medical Center	0	0	0	0	0	0	2	2
Clinical Genomics Laboratory, Washington University in St. Louis	0	0	0	1	0	0	1	2
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet	0	0	0	2	0	0	0	2
Department of Medical Genetics, University Hospital of North Norway	0	0	0	0	2	0	0	2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	0	0	0	1	0	0	1	2
Fulgent Genetics, Fulgent Genetics	0	18	0	2	0	0	0	2
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology	0	1	0	1	0	0	1	2
Inherited Neuropathy Consortium Ii, University Of Miami	0	0	0	0	0	0	2	2
Institute of Human Genetics Munich, TUM University Hospital	0	4	0	1	0	0	1	2
Institute of Immunology and Genetics Kaiserslautern	0	1	0	1	0	0	1	2
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	0	0	0	0	0	0	2	2
MGZ Medical Genetics Center	0	1	0	2	0	0	0	2
SIB Swiss Institute of Bioinformatics	0	1	0	1	0	0	1	2
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	0	2	0	0	0	0	1	1
Autoinflammatory diseases unit, CHU de Montpellier	0	0	0	1	0	0	0	1
Biochemistry Laboratory of CDMU, Chengde Medical University	0	0	0	1	0	0	1	1
Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences	0	0	0	1	0	0	0	1
Center for Human Genetics and Genomic Medicine, Uniklinik Rwth Aachen	0	0	0	0	0	0	1	1
Center for Human Genetics, Inc, Center for Human Genetics, Inc	0	2	0	1	0	0	0	1
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University	0	0	0	1	0	0	1	1
Center of Human Genetics, Hôpital Erasme	0	0	0	1	0	0	0	1
Central Laboratory, The First Hospital of Lanzhou University	0	0	0	1	0	0	1	1
Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille	0	0	0	1	0	0	0	1
Centre of Medical Genetics, University Hospital Muenster	0	0	0	1	0	0	0	1
Chao Lab, Baylor College of Medicine, Texas Children's Hospital	0	0	0	1	0	0	1	1
Coyote Medical Laboratory (Beijing), Coyote	0	0	0	1	0	0	0	1
Cytogenetics, Genetics Associates, Inc.	0	0	0	1	0	0	1	1
Dasa	0	1	0	1	0	0	0	1
Demoulin lab, University of Louvain	0	1	0	1	0	0	0	1
Department of Endocrinology and Genetics, Fuzhou Children’s Hospital of Fujian Medical University	0	0	0	1	0	0	0	1
Department of Human Genetics, Hannover Medical School	0	1	0	1	0	0	0	1
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences	0	1	0	1	0	0	0	1
Department of Medical and Surgical Sciences, University of Bologna	0	0	0	0	0	0	1	1
Department of Molecular Genetics, Istishari Arab Hospital	0	0	0	1	0	0	0	1
Department of Paediatrics at Addenbrookes, Cambridge University Hospitals NHS Foundation Trust (UK)	0	0	0	1	0	0	1	1
Department of Pediatric Genetics, Istanbul University - Cerrahpasa	0	0	0	1	0	0	0	1
Duke University Health System Sequencing Clinic, Duke University Health System	0	1	0	1	0	0	0	1
Elsea Laboratory, Baylor College of Medicine	0	0	0	1	0	0	1	1
Eurofins-Biomnis	0	0	0	1	0	0	0	1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	0	0	0	0	1	0	0	1
Flegel Lab, National Institutes of Health	0	0	0	1	0	0	1	1
Geisinger Autism and Developmental Medicine Institute, Geisinger Health System	0	0	0	1	1	0	1	1
Genetics Department, University Hospital of Toulouse	0	0	0	1	0	0	1	1
Genetics and Molecular Pathology, SA Pathology	0	0	0	1	0	0	0	1
Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University	0	0	0	1	0	0	1	1
Genome Sciences Centre, British Columbia Cancer Agency	0	0	0	1	0	0	1	1
Genomic Medicine, Universita Cattolica del Sacro Cuore	0	0	0	1	0	0	1	1
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	0	1	0	1	0	0	0	1
Génétique des Maladies du Développement, Hospices Civils de Lyon	0	0	0	1	0	0	1	1
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre	0	0	0	0	1	0	0	1
IU Genetic Testing Laboratories, Indiana University School of Medicine	0	0	0	1	0	0	1	1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	0	0	0	0	0	0	1	1
Institute for Human Genetics, University Hospital Essen	0	0	0	0	0	0	1	1
Institute of Cellular and Molecular Medicine, Copenhagen University	0	0	0	1	0	0	1	1
Institute of Human Genetics, Cologne University	0	0	0	0	0	0	1	1
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	0	1	0	1	0	0	0	1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen	0	2	0	1	0	0	0	1
Istanbul Faculty of Medicine, Istanbul University	0	0	0	1	0	0	0	1
Juno Genomics, Hangzhou Juno Genomics, Inc	0	1	0	1	0	0	0	1
Kariminejad - Najmabadi Pathology & Genetics Center	0	0	0	0	0	0	1	1
Knight Diagnostic Laboratories, Oregon Health and Sciences University	0	0	0	1	0	0	0	1
Laboratoire de Génétique Moléculaire, CHU Bordeaux	0	1	0	0	0	0	1	1
Laboratoires de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg	0	0	0	1	0	0	0	1
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova	0	0	0	1	0	0	0	1
Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano	0	0	0	0	0	0	1	1
Medical Genetics Lab, Policlinico S. Orsola.Malpighi	0	0	0	1	0	0	1	1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	0	0	0	1	0	0	0	1
Molecular Endocrinology Laboratory, Christian Medical College	0	0	0	0	0	0	1	1
Molecular Genetic Laboratory, Kuwait Medical Genetic Center	0	0	0	0	0	0	1	1
Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals	0	0	0	1	0	0	0	1
Molecular Pathology Diagnostics Labratory, University of Iowa Hospitals & Clinics	0	0	0	1	0	0	1	1
Molecular Pathology, Peter Maccallum Cancer Centre	0	0	0	0	1	0	0	1
NIHR Bioresource Rare Diseases, University of Cambridge	0	1	0	1	0	0	1	1
Neurogenetics Laboratory - MEYER, AOU Meyer	0	0	0	1	0	0	1	1
New York Genome Center	0	0	0	1	0	0	1	1
Next Generation Genetic Polyclinic	0	0	0	1	0	0	0	1
OLLIN Analises Genomicas, OLLIN	0	0	0	1	0	0	0	1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust	0	0	0	0	0	0	1	1
Pathology and Clinical Laboratory Medicine, King Fahad Medical City	0	1	0	1	0	0	0	1
Pediatric Highly Intensive Care Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico	0	0	0	1	0	0	1	1
Rare Disease Group, Clinical Genetics, Karolinska Institutet	0	0	0	1	1	0	1	1
Rare Disease Group, University of Exeter	0	0	0	1	0	0	1	1
Reproductive Health Research and Development, BGI Genomics	0	0	0	0	0	0	1	1
Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences	0	0	0	1	0	0	0	1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital	0	2	0	1	0	0	1	1
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana	0	0	0	1	0	0	0	1
Sharon lab, Hadassah-Hebrew University Medical Center	0	0	0	1	0	0	0	1
SingHealth Duke-NUS Institute of Precision Medicine	0	0	0	1	0	0	0	1
Solve-RD Consortium	0	0	0	0	0	0	1	1
The Genetics Institute, Rambam Health Care Campus	0	0	0	0	0	0	1	1
UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill	0	0	0	1	0	0	0	1
Undiagnosed Diseases Network, NIH	0	0	0	1	0	0	1	1
University of Washington Center for Mendelian Genomics, University of Washington	0	3	0	1	0	0	1	1
University of Washington Department of Laboratory Medicine, University of Washington	0	0	0	0	0	0	1	1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics	0	0	0	0	0	1	0	1
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine	0	1	0	1	0	0	0	1

All variants with conflicting interpretations #

HGVS	dbSNP	gnomAD frequency
NM_152372.4(MYOM3):c.3534+56G>A	rs139328461	0.01714
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)	rs147099630	0.00597
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu)	rs115913736	0.00540
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile)	rs202057391	0.00464
NM_005634.3(SOX3):c.157G>C (p.Val53Leu)	rs200361128	0.00412
NM_001395656.1(ROBO2):c.2443C>T (p.Arg815Trp)	rs188582283	0.00410
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)	rs118203657	0.00343
NM_001394062.1(MACF1):c.22506T>G (p.Phe7502Leu)	rs138819868	0.00290
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)	rs1800553	0.00269
NM_004319.3(ASTN1):c.3283A>C (p.Met1095Leu)	rs151246825	0.00264
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile)	rs41275239	0.00212
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe)	rs139912214	0.00193
NM_001036.6(RYR3):c.2486G>A (p.Arg829His)	rs199500216	0.00128
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile)	rs77358650	0.00127
NM_182961.4(SYNE1):c.19692+3G>A	rs150304757	0.00116
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile)	rs199768740	0.00088
NM_001378902.1(ROS1):c.1121G>C (p.Gly374Ala)	rs61743088	0.00081
NM_017721.5(CC2D1A):c.2657G>A (p.Arg886His)	rs201921029	0.00072
NM_000216.4(ANOS1):c.2015A>G (p.His672Arg)	rs199771303	0.00041
NM_001198956.2(DCAF6):c.2240G>A (p.Arg747Gln)	rs145189179	0.00038
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg)	rs143335584	0.00029
NM_001849.4(COL6A2):c.*5G>A	rs377195134	0.00026
NM_001395413.1(POR):c.850G>C (p.Ala284Pro)	rs121912974	0.00023
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys)	rs782697291	0.00011
NM_182961.4(SYNE1):c.21377A>G (p.Lys7126Arg)	rs145882956	0.00011
NM_022835.3(PLEKHG2):c.1708G>A (p.Gly570Arg)	rs370673772	0.00010
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu)	rs371387815	0.00009
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met)	rs80338853	0.00009
NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His)	rs147455037	0.00009
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg)	rs144332569	0.00008
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val)	rs28897696	0.00007
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu)	rs201135624	0.00006
NM_001421.4(ELF4):c.560C>A (p.Thr187Asn)	rs137884184	0.00006
NM_007294.4(BRCA1):c.135-3T>C	rs759417413	0.00006
NM_012144.4(DNAI1):c.862C>T (p.Arg288Trp)	rs202213517	0.00004
NM_032656.4(DHX37):c.1460G>A (p.Arg487His)	rs779613772	0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met)	rs587777577	0.00004
NM_000546.6(TP53):c.382C>A (p.Pro128Thr)	rs1555526327	0.00003
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys)	rs398122965	0.00003
NM_001371986.1(UNC80):c.5296C>T (p.Pro1766Ser)	rs869025316	0.00003
NM_007294.4(BRCA1):c.179A>G (p.Gln60Arg)	rs373655067	0.00003
NM_018076.5(ODAD2):c.2219G>A (p.Trp740Ter)	rs201213030	0.00003
NM_021222.3(PRUNE1):c.383G>A (p.Arg128Gln)	rs767769359	0.00003
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter)	rs773770609	0.00003
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly)	rs587781273	0.00002
NM_000314.8(PTEN):c.425G>A (p.Arg142Gln)	rs753630034	0.00002
NM_001003800.2(BICD2):c.1477C>T (p.Arg493Cys)	rs146113445	0.00002
NM_001123385.2(BCOR):c.4292C>A (p.Ser1431Tyr)	rs369432845	0.00002
NM_004187.5(KDM5C):c.3068A>G (p.Lys1023Arg)	rs782367133	0.00002
NM_006831.3(CLP1):c.419G>A (p.Arg140His)	rs587777616	0.00002
NM_007294.4(BRCA1):c.4997A>G (p.Tyr1666Cys)	rs397509216	0.00002
NM_007294.4(BRCA1):c.5332+4A>G	rs80358166	0.00002
NM_007294.4(BRCA1):c.5429T>C (p.Val1810Ala)	rs80357451	0.00002
NM_007294.4(BRCA1):c.5504G>A (p.Arg1835Gln)	rs273902776	0.00002
NM_007294.4(BRCA1):c.5528C>T (p.Ala1843Val)	rs730881447	0.00002
NM_015047.3(EMC1):c.245C>T (p.Thr82Met)	rs869320625	0.00002
NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro)	rs775295739	0.00002
NM_000170.3(GLDC):c.2938A>G (p.Asn980Asp)	rs772574530	0.00001
NM_000314.8(PTEN):c.1001A>G (p.Asn334Ser)	rs1206321984	0.00001
NM_000314.8(PTEN):c.1069C>A (p.Pro357Thr)	rs876661264	0.00001
NM_000314.8(PTEN):c.1087A>G (p.Thr363Ala)	rs765416558	0.00001
NM_000314.8(PTEN):c.1093G>A (p.Val365Ile)	rs758542021	0.00001
NM_000314.8(PTEN):c.1115A>G (p.Asn372Ser)	rs1370349057	0.00001
NM_000314.8(PTEN):c.1171C>T (p.Pro391Ser)	rs786203911	0.00001
NM_000314.8(PTEN):c.1206A>C (p.Lys402Asn)	rs1064796017	0.00001
NM_000314.8(PTEN):c.133G>A (p.Val45Ile)	rs1382752324	0.00001
NM_000314.8(PTEN):c.206A>G (p.Asn69Ser)	rs786204922	0.00001
NM_000314.8(PTEN):c.349A>C (p.Asn117His)	rs771310592	0.00001
NM_000314.8(PTEN):c.440A>G (p.Lys147Arg)	rs757087471	0.00001
NM_000314.8(PTEN):c.614T>C (p.Met205Thr)	rs1185592373	0.00001
NM_000314.8(PTEN):c.625G>A (p.Gly209Arg)	rs765433422	0.00001
NM_000314.8(PTEN):c.659T>C (p.Leu220Pro)	rs141373793	0.00001
NM_000314.8(PTEN):c.673T>C (p.Tyr225His)	rs876659433	0.00001
NM_000314.8(PTEN):c.685T>A (p.Ser229Thr)	rs587781998	0.00001
NM_000314.8(PTEN):c.700C>T (p.Arg234Trp)	rs786201730	0.00001
NM_000314.8(PTEN):c.823G>A (p.Val275Ile)	rs1410198544	0.00001
NM_000314.8(PTEN):c.841C>G (p.Pro281Ala)	rs750705904	0.00001
NM_000314.8(PTEN):c.881G>A (p.Ser294Asn)	rs1175543698	0.00001
NM_000314.8(PTEN):c.887G>A (p.Cys296Tyr)	rs1060500121	0.00001
NM_000314.8(PTEN):c.901G>A (p.Asp301Asn)	rs758644748	0.00001
NM_000314.8(PTEN):c.904A>G (p.Ser302Gly)	rs1334444415	0.00001
NM_000314.8(PTEN):c.905G>A (p.Ser302Asn)	rs745638189	0.00001
NM_000314.8(PTEN):c.908T>G (p.Ile303Ser)	rs772018727	0.00001
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys)	rs1064794436	0.00001
NM_000314.8(PTEN):c.923G>A (p.Arg308His)	rs786201507	0.00001
NM_000546.6(TP53):c.1004G>A (p.Arg335His)	rs771939956	0.00001
NM_000546.6(TP53):c.1061A>G (p.Gln354Arg)	rs752142489	0.00001
NM_000546.6(TP53):c.1082G>A (p.Gly361Glu)	rs587781663	0.00001
NM_000546.6(TP53):c.1085G>T (p.Ser362Ile)	rs768803947	0.00001
NM_000546.6(TP53):c.1133C>G (p.Ser378Cys)	rs1555524130	0.00001
NM_000546.6(TP53):c.171C>A (p.Asp57Glu)	rs587782776	0.00001
NM_000546.6(TP53):c.26G>A (p.Ser9Asn)	rs1555527015	0.00001
NM_000546.6(TP53):c.37C>T (p.Pro13Ser)	rs1060501208	0.00001
NM_000546.6(TP53):c.38C>T (p.Pro13Leu)	rs878854070	0.00001
NM_000546.6(TP53):c.457C>T (p.Pro153Ser)	rs1064795860	0.00001
NM_000546.6(TP53):c.4G>A (p.Glu2Lys)	rs769884991	0.00001
NM_000546.6(TP53):c.559G>A (p.Gly187Ser)	rs776167460	0.00001
NM_000546.6(TP53):c.686G>A (p.Cys229Tyr)	rs1064793603	0.00001
NM_000546.6(TP53):c.694A>C (p.Ile232Leu)	rs1555525562	0.00001
NM_000546.6(TP53):c.861G>C (p.Glu287Asp)	rs748891343	0.00001
NM_000546.6(TP53):c.946C>A (p.Pro316Thr)	rs772773208	0.00001
NM_000546.6(TP53):c.953C>T (p.Pro318Leu)	rs1555524975	0.00001
NM_001031710.3(KLHL7):c.1258C>T (p.Arg420Cys)	rs780705654	0.00001
NM_001164508.2(NEB):c.19101+5G>A	rs374929094	0.00001
NM_001278716.2(FBXL4):c.419T>C (p.Val140Ala)	rs1057519447	0.00001
NM_001330195.2(NRXN3):c.3142+3A>G	rs531047390	0.00001
NM_003038.5(SLC1A4):c.1369C>T (p.Arg457Trp)	rs761533681	0.00001
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln)	rs773138218	0.00001
NM_004249.4(RAB28):c.651T>G (p.Cys217Trp)	rs751163782	0.00001
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys)	rs532757890	0.00001
NM_004826.4(ECEL1):c.2023G>A (p.Ala675Thr)	rs606231471	0.00001
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys)	rs777219451	0.00001
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys)	rs121912670	0.00001
NM_006439.5(MAB21L2):c.740G>A (p.Arg247Gln)	rs587777514	0.00001
NM_007294.4(BRCA1):c.146T>G (p.Leu49Arg)	rs273897660	0.00001
NM_007294.4(BRCA1):c.169G>C (p.Gly57Arg)	rs879255289	0.00001
NM_007294.4(BRCA1):c.206C>T (p.Thr69Ile)	rs273898675	0.00001
NM_007294.4(BRCA1):c.230C>T (p.Thr77Met)	rs80357209	0.00001
NM_007294.4(BRCA1):c.301+6T>C	rs753859240	0.00001
NM_007294.4(BRCA1):c.4903G>A (p.Glu1635Lys)	rs200432771	0.00001
NM_007294.4(BRCA1):c.4954A>G (p.Met1652Val)	rs1348949389	0.00001
NM_007294.4(BRCA1):c.5066T>C (p.Met1689Thr)	rs80357061	0.00001
NM_007294.4(BRCA1):c.5101C>A (p.Leu1701Met)	rs910555398	0.00001
NM_007294.4(BRCA1):c.5128G>A (p.Gly1710Arg)	rs397509229	0.00001
NM_007294.4(BRCA1):c.5186T>A (p.Leu1729Gln)	rs730881496	0.00001
NM_007294.4(BRCA1):c.5327C>T (p.Pro1776Leu)	rs398122695	0.00001
NM_007294.4(BRCA1):c.5332+3A>G	rs766614917	0.00001
NM_007294.4(BRCA1):c.5349G>A (p.Met1783Ile)	rs587782019	0.00001
NM_007294.4(BRCA1):c.5479A>G (p.Met1827Val)	rs771606902	0.00001
NM_007294.4(BRCA1):c.5481G>A (p.Met1827Ile)	rs587782432	0.00001
NM_007294.4(BRCA1):c.5492C>G (p.Pro1831Arg)	rs587782778	0.00001
NM_007294.4(BRCA1):c.5501C>T (p.Thr1834Ile)	rs730881500	0.00001
NM_007294.4(BRCA1):c.5506G>A (p.Glu1836Lys)	rs80356942	0.00001
NM_007294.4(BRCA1):c.5538G>C (p.Gln1846His)	rs80356849	0.00001
NM_007294.4(BRCA1):c.86A>G (p.Glu29Gly)	rs773841328	0.00001
NM_012123.4(MTO1):c.1933C>A (p.Arg645Ser)	rs746382157	0.00001
NM_015270.5(ADCY6):c.2975A>G (p.Tyr992Cys)	rs879253864	0.00001
NM_017882.3(CLN6):c.407G>A (p.Arg136His)	rs769701646	0.00001
NM_021098.3(CACNA1H):c.2051C>A (p.Pro684His)	rs767983680	0.00001
NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn)	rs773618224	0.00001
NM_032590.5(KDM2B):c.3050G>A (p.Arg1017His)	rs782304760	0.00001
NM_130837.3(OPA1):c.1033C>T (p.Arg345Trp)	rs780333963	0.00001
NM_176787.5(PIGN):c.996T>G (p.Ile332Met)	rs1060499763	0.00001
NM_203290.4(POLR1C):c.88C>T (p.Pro30Ser)	rs1057519455	0.00001
NM_000117.3(EMD):c.188-6A>G	rs2148128297
NM_000153.4(GALC):c.1162-4del	rs11300320
NM_000202.8(IDS):c.613G>A (p.Ala205Thr)	rs864622779
NM_000314.8(PTEN):c.1018A>C (p.Asn340His)	rs759852661
NM_000314.8(PTEN):c.1061C>G (p.Pro354Arg)	rs375709098
NM_000314.8(PTEN):c.1061C>T (p.Pro354Leu)	rs375709098
NM_000314.8(PTEN):c.1066A>G (p.Asn356Asp)	rs587782345
NM_000314.8(PTEN):c.1074G>C (p.Glu358Asp)	rs876659464
NM_000314.8(PTEN):c.1081A>C (p.Ser361Arg)	rs1472028496
NM_000314.8(PTEN):c.1088C>T (p.Thr363Ile)	rs750585255
NM_000314.8(PTEN):c.1130A>T (p.Tyr377Phe)	rs751286806
NM_000314.8(PTEN):c.1172C>T (p.Pro391Leu)	rs1554826059
NM_000314.8(PTEN):c.160G>A (p.Val54Ile)	rs786204916
NM_000314.8(PTEN):c.235G>T (p.Ala79Ser)	rs202004587
NM_000314.8(PTEN):c.328C>G (p.Gln110Glu)	rs1114167629
NM_000314.8(PTEN):c.348C>A (p.Asp116Glu)	rs1114167651
NM_000314.8(PTEN):c.424C>T (p.Arg142Trp)	rs746152219
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys)	rs1060500126
NM_000314.8(PTEN):c.496G>A (p.Val166Ile)	rs780943695
NM_000314.8(PTEN):c.538T>C (p.Tyr180His)	rs746280047
NM_000314.8(PTEN):c.594G>A (p.Met198Ile)	rs747072478
NM_000314.8(PTEN):c.595A>G (p.Met199Val)	rs1434191423
NM_000314.8(PTEN):c.595A>T (p.Met199Leu)	rs1434191423
NM_000314.8(PTEN):c.607A>G (p.Ile203Val)	rs1564837997
NM_000314.8(PTEN):c.683A>G (p.Asn228Ser)	rs748240670
NM_000314.8(PTEN):c.698G>A (p.Arg233Gln)	rs770025422
NM_000314.8(PTEN):c.716T>C (p.Met239Thr)	rs786204871
NM_000314.8(PTEN):c.743C>G (p.Pro248Arg)	rs759560822
NM_000314.8(PTEN):c.779A>G (p.Lys260Arg)	rs1060500125
NM_000314.8(PTEN):c.838A>G (p.Ile280Val)	rs1474354667
NM_000314.8(PTEN):c.913A>G (p.Ser305Gly)	rs775461980
NM_000314.8(PTEN):c.919G>C (p.Glu307Gln)	rs746930141
NM_000314.8(PTEN):c.935A>G (p.Asp312Gly)	rs863224667
NM_000314.8(PTEN):c.941A>C (p.Glu314Ala)	rs1171478249
NM_000521.4(HEXB):c.170G>A (p.Trp57Ter)	rs1114167287
NM_000546.6(TP53):c.1079G>A (p.Gly360Glu)	rs35993958
NM_000546.6(TP53):c.107C>T (p.Pro36Leu)	rs587781866
NM_000546.6(TP53):c.1084A>T (p.Ser362Cys)	rs1287887419
NM_000546.6(TP53):c.1085G>A (p.Ser362Asn)	rs768803947
NM_000546.6(TP53):c.1087A>G (p.Arg363Gly)	rs745751553
NM_000546.6(TP53):c.1090G>T (p.Ala364Ser)	rs2072906212
NM_000546.6(TP53):c.1118A>G (p.Lys373Arg)	rs1567540504
NM_000546.6(TP53):c.1119G>T (p.Lys373Asn)	rs1342613419
NM_000546.6(TP53):c.1135C>T (p.Arg379Cys)	rs749061599
NM_000546.6(TP53):c.129G>C (p.Leu43Phe)	rs754332870
NM_000546.6(TP53):c.139C>A (p.Pro47Thr)	rs1800371
NM_000546.6(TP53):c.182A>G (p.Asp61Gly)	rs1460793472
NM_000546.6(TP53):c.211C>G (p.Pro71Ala)	rs1567556576
NM_000546.6(TP53):c.229C>A (p.Pro77Thr)	rs753085009
NM_000546.6(TP53):c.233C>G (p.Ala78Gly)	rs876658527
NM_000546.6(TP53):c.244C>G (p.Pro82Ala)	rs1555526664
NM_000546.6(TP53):c.263C>T (p.Ala88Val)	rs1555526631
NM_000546.6(TP53):c.266C>T (p.Pro89Leu)	rs730881994
NM_000546.6(TP53):c.275C>T (p.Pro92Leu)	rs1210700121
NM_000546.6(TP53):c.289G>C (p.Val97Leu)	rs730882023
NM_000546.6(TP53):c.293C>T (p.Pro98Leu)	rs1245723119
NM_000546.6(TP53):c.29T>G (p.Val10Gly)	rs1418778734
NM_000546.6(TP53):c.305C>T (p.Thr102Ile)	rs786202717
NM_000546.6(TP53):c.314G>A (p.Gly105Asp)	rs587781504
NM_000546.6(TP53):c.317G>T (p.Ser106Ile)	rs1567555883
NM_000546.6(TP53):c.322G>T (p.Gly108Cys)	rs587782461
NM_000546.6(TP53):c.334G>A (p.Gly112Ser)	rs1423803759
NM_000546.6(TP53):c.35C>G (p.Pro12Arg)	rs1482497533
NM_000546.6(TP53):c.442G>T (p.Asp148Tyr)	rs1131691007
NM_000546.6(TP53):c.542G>T (p.Arg181Leu)	rs397514495
NM_000546.6(TP53):c.625A>G (p.Arg209Gly)	rs1429743956
NM_000546.6(TP53):c.686G>C (p.Cys229Ser)	rs1064793603
NM_000546.6(TP53):c.727A>G (p.Met243Val)	rs786203117
NM_000546.6(TP53):c.761T>G (p.Ile254Ser)	rs1330865474
NM_000546.6(TP53):c.830G>T (p.Cys277Phe)	rs763098116
NM_000546.6(TP53):c.910A>G (p.Thr304Ala)	rs587782654
NM_000546.6(TP53):c.925C>T (p.Pro309Ser)	rs1555525012
NM_000546.6(TP53):c.930C>A (p.Asn310Lys)	rs876660829
NM_000546.6(TP53):c.941C>T (p.Ser314Phe)	rs751440465
NM_000546.6(TP53):c.946C>T (p.Pro316Ser)	rs772773208
NM_000546.6(TP53):c.964C>T (p.Pro322Ser)	rs863224687
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)	rs869312868
NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg)	rs267606772
NM_001017995.3(SH3PXD2B):c.969del (p.Arg324fs)	rs794728006
NM_001032382.2(PQBP1):c.463C>T (p.Arg155Ter)	rs1602330420
NM_001042681.2(RERE):c.4293C>A (p.His1431Gln)	rs869312871
NM_001098.3(ACO2):c.2338_2339del (p.Gln780fs)	rs1114167284
NM_001106.4(ACVR2B):c.1147C>T (p.Arg383Cys)	rs1559655653
NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter)	rs767709270
NM_001170535.3(ATAD3A):c.1582C>T (p.Arg528Trp)	rs1057517686
NM_001170535.3(ATAD3A):c.158C>T (p.Thr53Ile)	rs1057517687
NM_001244008.2(KIF1A):c.304G>A (p.Gly102Ser)	rs1064795534
NM_001330311.2(DVL1):c.1571_1583del (p.Pro524fs)	rs1553173420
NM_001330311.2(DVL1):c.1687_1691dup (p.Ser564fs)	rs1553173372
NM_001371986.1(UNC80):c.2033del (p.Asn678fs)	rs869025318
NM_001371986.1(UNC80):c.7805G>C (p.Arg2602Thr)	rs869025317
NM_001371986.1(UNC80):c.7955T>A (p.Leu2652Ter)	rs869025319
NM_001378964.1(CDON):c.3395C>T (p.Pro1132Leu)	rs754025360
NM_001429.4(EP300):c.6001C>T (p.Pro2001Ser)	rs1210404526
NM_001605.3(AARS1):c.986G>A (p.Arg329His)	rs267606621
NM_001615.4(ACTG2):c.118C>T (p.Arg40Cys)	rs587777385
NM_001690.4(ATP6V1A):c.940A>G (p.Asn314Asp)	rs869312870
NM_002470.4(MYH3):c.2015G>A (p.Arg672His)	rs121913617
NM_002609.4(PDGFRB):c.1998C>A (p.Asn666Lys)	rs864309711
NM_002677.5(PMP2):c.155T>C (p.Ile52Thr)	rs1563518388
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)	rs886037952
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)	rs121918456
NM_003239.5(TGFB3):c.171del (p.Glu58fs)	rs1594792466
NM_003384.3(VRK1):c.706G>A (p.Val236Met)	rs771364038
NM_003392.7(WNT5A):c.461G>T (p.Cys154Phe)	rs2051315439
NM_003491.4(NAA10):c.215T>C (p.Ile72Thr)	rs1057519448
NM_003680.4(YARS1):c.586G>C (p.Glu196Gln)	rs121908834
NM_004371.4(COPA):c.728A>G (p.Asp243Gly)	rs794727994
NM_004463.3(FGD1):c.527dup (p.Leu177fs)	rs756586058
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)	rs796052676
NM_005026.5(PIK3CD):c.1573G>A (p.Glu525Lys)	rs587777389
NM_005052.3(RAC3):c.176C>G (p.Ala59Gly)	rs1379395211
NM_005327.7(HADH):c.349G>T (p.Val117Leu)	rs146732064
NM_005654.6(NR2F1):c.335G>A (p.Arg112Lys)	rs587777277
NM_005654.6(NR2F1):c.339C>A (p.Ser113Arg)	rs587777275
NM_005654.6(NR2F1):c.344G>C (p.Arg115Pro)	rs587777274
NM_005654.6(NR2F1):c.755T>C (p.Leu252Pro)	rs587777276
NM_006086.4(TUBB3):c.136C>T (p.Arg46Trp)	rs1555625363
NM_006439.5(MAB21L2):c.145G>A (p.Glu49Lys)	rs587777513
NM_006439.5(MAB21L2):c.151C>T (p.Arg51Cys)	rs587777512
NM_006439.5(MAB21L2):c.152G>A (p.Arg51His)	rs587777511
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys)	rs397514610
NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys)	rs199474721
NM_007294.4(BRCA1):c.114G>T (p.Lys38Asn)	rs1800062
NM_007294.4(BRCA1):c.118G>A (p.Asp40Asn)	rs879255290
NM_007294.4(BRCA1):c.189A>T (p.Leu63Phe)	rs80356956
NM_007294.4(BRCA1):c.198T>A (p.Asn66Lys)	rs878854936
NM_007294.4(BRCA1):c.230C>G (p.Thr77Arg)	rs80357209
NM_007294.4(BRCA1):c.233G>T (p.Arg78Ile)	rs2054692582
NM_007294.4(BRCA1):c.256C>G (p.Leu86Val)	rs2054684036
NM_007294.4(BRCA1):c.35A>G (p.Gln12Arg)	rs1555601006
NM_007294.4(BRCA1):c.4942A>G (p.Lys1648Glu)	rs747694453
NM_007294.4(BRCA1):c.5018A>G (p.His1673Arg)	rs1064793913
NM_007294.4(BRCA1):c.5023A>T (p.Thr1675Ser)	rs774452090
NM_007294.4(BRCA1):c.5036T>C (p.Leu1679Pro)	rs760038328
NM_007294.4(BRCA1):c.5056C>T (p.His1686Tyr)	rs1555579648
NM_007294.4(BRCA1):c.5125G>A (p.Gly1709Arg)	rs886038197
NM_007294.4(BRCA1):c.5137G>A (p.Val1713Ile)	rs1064793309
NM_007294.4(BRCA1):c.5145C>A (p.Ser1715Arg)	rs80357094
NM_007294.4(BRCA1):c.5155G>T (p.Val1719Leu)	rs749465132
NM_007294.4(BRCA1):c.5161C>G (p.Gln1721Glu)	rs878854957
NM_007294.4(BRCA1):c.5198A>T (p.Asp1733Val)	rs80357270
NM_007294.4(BRCA1):c.5260G>C (p.Glu1754Gln)	rs80357432
NM_007294.4(BRCA1):c.5276A>G (p.Lys1759Arg)	rs431825415
NM_007294.4(BRCA1):c.5296A>G (p.Ile1766Val)	rs886039314
NM_007294.4(BRCA1):c.5309G>C (p.Gly1770Ala)	rs863224765
NM_007294.4(BRCA1):c.5347A>G (p.Met1783Val)	rs80357012
NM_007294.4(BRCA1):c.5363G>A (p.Gly1788Asp)	rs80357069
NM_007294.4(BRCA1):c.5374G>A (p.Val1792Met)	rs1555575131
NM_007294.4(BRCA1):c.5380G>A (p.Glu1794Lys)	rs776323117
NM_007294.4(BRCA1):c.5383C>T (p.Leu1795Phe)	rs878854958
NM_007294.4(BRCA1):c.5407G>T (p.Gly1803Cys)	rs876659510
NM_007294.4(BRCA1):c.5426T>C (p.Val1809Ala)	rs80357216
NM_007294.4(BRCA1):c.5470A>G (p.Ile1824Val)	rs587782026
NM_007294.4(BRCA1):c.5478G>T (p.Gln1826His)	rs80357332
NM_007294.4(BRCA1):c.5525T>A (p.Val1842Glu)	rs1555574400
NM_007294.4(BRCA1):c.60A>C (p.Lys20Asn)	rs202168814
NM_007294.4(BRCA1):c.67G>C (p.Glu23Gln)	rs372047427
NM_007294.4(BRCA1):c.98A>C (p.Glu33Ala)	rs876660844
NM_007294.4(BRCA1):c.9A>T (p.Leu3Phe)	rs780157871
NM_013438.5(UBQLN1):c.377del (p.Asn126fs)	rs1060499753
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val)	rs1114167288
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)	rs752059006
NM_015047.3(EMC1):c.2619_2622del (p.Pro874fs)	rs869320624
NM_015271.5(TRIM2):c.2000A>C (p.Asp667Ala)	rs879253863
NM_015599.3(PGM3):c.737A>G (p.Asn246Ser)	rs587777562
NM_018055.5(NODAL):c.397C>T (p.Gln133Ter)	rs1447874899
NM_018076.5(ODAD2):c.2780T>G (p.Leu927Trp)	rs587777047
NM_020693.4(DSCAML1):c.1231G>A (p.Val411Ile)	rs759222737
NM_021222.3(PRUNE1):c.88G>A (p.Asp30Asn)	rs1057521927
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)	rs267607144
NM_021939.4(FKBP10):c.890_897dup (p.Gly300Ter)	rs1567855132
NM_022095.4(ZNF335):c.2744_2747del (p.Ser915fs)	rs753460205
NM_024105.4(ALG12):c.1001del (p.Asn334fs)	rs759244819
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly)	rs786205483
NM_024596.5(MCPH1):c.427dup (p.Thr143fs)	rs199422125
NM_032208.3(ANTXR1):c.1150G>A (p.Gly384Ser)	rs869312897
NM_032208.3(ANTXR1):c.1221dup (p.Ala408fs)	rs869312895
NM_032208.3(ANTXR1):c.411A>G (p.Gln137=)	rs869312896
NM_052867.4(NALCN):c.1639A>G (p.Met547Val)	rs1057519432
NM_052867.4(NALCN):c.965T>C (p.Ile322Thr)	rs1057519433
NM_133433.4(NIPBL):c.1808del (p.Lys603fs)	rs727503767
NM_133433.4(NIPBL):c.7637T>C (p.Leu2546Pro)	rs727503772
NM_152564.5(VPS13B):c.3G>A (p.Met1Ile)	rs1060499779
NM_173495.3(PTCHD1):c.542A>C (p.Lys181Thr)	rs1060499778
NM_177550.5(SLC13A5):c.1475T>C (p.Leu492Pro)	rs1057519449
NM_178012.5(TUBB2B):c.292G>A (p.Gly98Arg)	rs797046075
NM_178012.5(TUBB2B):c.43C>A (p.Gln15Lys)	rs1085307566
NM_178014.4(TUBB):c.860C>T (p.Pro287Leu)	rs1554202416
NM_198569.3(ADGRG6):c.19C>T (p.Arg7Ter)	rs749355583
Single allele