ClinVar Miner

Variants from Genomenon, Inc, Genomenon, Inc with conflicting interpretations

Location: United States  Primary collection method: curation
Minimum review status of the submission from Genomenon, Inc, Genomenon, Inc: Collection method of the submission from Genomenon, Inc, Genomenon, Inc:
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
4139 602 6 272 40 1 168 463

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
Genomenon, Inc, Genomenon, Inc pathogenic likely pathogenic uncertain significance likely benign benign other
pathogenic 4 169 23 2 0 0
likely pathogenic 78 2 70 2 0 0
uncertain significance 22 54 0 16 5 0
likely benign 0 0 11 0 8 0
benign 2 0 9 17 0 1

Submitter to submitter summary #

Total submitters: 83
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 0 303 3 73 8 1 67 152
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 210 0 80 0 0 14 94
Fulgent Genetics, Fulgent Genetics 0 124 1 49 3 0 31 84
JKU Lab, Dept of Paediatrics, Johannes Kepler University 0 87 0 19 2 0 33 54
Natera, Inc. 0 130 0 37 2 0 11 50
Genome-Nilou Lab 0 112 0 28 6 0 8 42
OMIM 0 37 0 8 2 0 13 23
Albrecht-Kossel-Institute, Medical University Rostock 0 27 0 10 2 0 6 18
Color Diagnostics, LLC DBA Color Health 0 61 0 5 7 0 5 17
Mayo Clinic Laboratories, Mayo Clinic 0 21 3 7 2 0 4 16
Illumina Laboratory Services, Illumina 0 23 0 8 2 0 4 14
All of Us Research Program, National Institutes of Health 0 42 0 5 1 0 6 12
Mendelics 0 8 0 5 4 0 1 10
GeneDx 0 12 0 4 0 0 4 8
3billion 0 16 0 2 2 0 3 7
Sydney Genome Diagnostics, Children's Hospital Westmead 0 7 2 4 1 0 0 7
Genetics Laboratory, Great Ormond Street Hospital NHS Foundation Trust, North Thames Genomic Laboratory Hub 0 8 0 3 0 0 3 6
PreventionGenetics, part of Exact Sciences 0 4 0 5 0 0 1 6
Richard Lifton Laboratory, Yale University School of Medicine 0 0 0 5 0 0 1 6
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 20 0 2 1 0 2 5
Juno Genomics, Hangzhou Juno Genomics, Inc 0 6 0 5 0 0 0 5
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 7 0 5 0 0 0 5
CeMIA 0 3 0 3 1 0 0 4
Genetic Services Laboratory, University of Chicago 0 3 0 3 1 0 0 4
CeGaT Center for Human Genetics Tuebingen 0 1 0 3 0 0 0 3
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 0 0 0 3 0 0 3
Rare Kidney Stone Consortium and the Mayo Clinic Hyperoxaluria Center, Mayo Clinic 0 0 0 3 0 0 0 3
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 11 0 2 1 0 0 3
Baylor Genetics 0 2 0 2 0 0 0 2
Breakthrough Genomics, Breakthrough Genomics 0 11 0 2 0 0 0 2
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 0 0 1 1 0 0 2
Department of Pathology and Laboratory Medicine, Sinai Health System 0 10 0 0 1 0 1 2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 4 0 1 1 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 1 0 2 0 0 0 2
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 17 0 0 2 0 0 2
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 3 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 3 0 0 1 0 1 2
Immunogenetics and Transplant Biology Service, University Hospital "Città della Salute e della Scienza di Torino" 0 0 0 2 0 0 0 2
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 3 0 1 1 0 0 2
Medical and Scientific Branch, Hong Kong Genome Institute 0 0 0 1 0 0 1 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 3 0 2 0 0 0 2
Myriad Genetics, Inc. 0 5 0 2 0 0 0 2
Neuberg Centre For Genomic Medicine, NCGM 0 0 0 2 0 0 0 2
Precision Medicine Center, Zhengzhou University 0 0 0 2 0 0 0 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 3 0 2 0 0 0 2
Biochemistry Metabolomics and Proteomics Laboratory, Necker Enfants Malades Hospital 0 0 0 1 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare 0 3 0 0 0 0 1 1
Blueprint Genetics 0 1 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 1 0 1 0 0 0 1
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 1 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 1 0 0 0 1
Center for Inherited Cardiovascular Diseases, IRCCS Fondazione Policlinico San Matteo 0 0 0 1 0 0 0 1
Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital 0 0 0 0 1 0 0 1
Clinical Genetics Laboratory, Skane University Hospital Lund 0 3 0 1 0 0 0 1
Clinical Genetics Laboratory, University Hospital Schleswig-Holstein 0 0 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 0 1 0 0 0 1
Counsyl 0 1 0 1 0 0 0 1
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology 0 0 0 1 0 0 0 1
Eurofins Ntd Llc (ga) 0 0 1 0 0 0 0 1
First Genomix Gene Laboratory, Genetic Diagnostics Department 0 0 0 1 0 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 5 0 0 0 0 1 1
Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre 0 0 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 1 0 0 0 1
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden 0 0 0 0 0 0 1 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 2 0 0 0 0 1 1
Institute of Medical Genetics, Medical University of Vienna 0 0 0 0 1 0 0 1
Johns Hopkins Genomics, Johns Hopkins University 0 0 0 1 0 0 0 1
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India 0 0 0 0 0 0 1 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 1 0 0 0 0 1 1
Laboratory of Medical Genetics, University of Torino 0 0 0 1 0 0 0 1
Laboratory of Molecular Medicine, Department of Clinical Immunology, Section 7631, University hospital of Copenhagen, Rigshospitalet 0 0 0 0 0 0 1 1
Molecular Genetics Laboratory, Motol Hospital 0 0 0 1 0 0 0 1
Nephrology Department, Antalya Training and Research Hospital 0 0 0 0 0 0 1 1
North West Genomic Laboratory Hub, Manchester University NHS Foundation Trust 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Serv. Biochemistry and Molecular genetics, Hospital Clinic de Barcelona, Hospital Clínic de Barcelona 0 0 0 0 1 0 0 1
Service of Pediatric Gastrohepatology and Metabolic Diseases, University of Medicine of Tirana 0 0 0 0 0 0 1 1
The Laboratory of Cardiovascular Diseases, The First Hospital of LanZhou University 0 0 0 0 0 0 1 1
University of Iowa Renal Genetics Clinic, University of Iowa 0 0 0 0 1 0 0 1
Variantyx, Inc. 0 2 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 1 0 1 0 0 0 1
deCODE genetics, Amgen 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 463
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HGVS dbSNP gnomAD frequency
NM_000169.3(GLA):c.-12G>A rs3027585 0.06554
NM_000478.6(ALPL):c.1542G>T (p.Ala514=) rs3200256 0.01113
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00914
NM_000204.5(CFI):c.1534+5G>T rs114013791 0.00908
NM_000169.3(GLA):c.-30G>A rs3027584 0.00873
NM_000478.6(ALPL):c.1381G>A (p.Val461Ile) rs34810399 0.00860
NM_000204.5(CFI):c.*7G>T rs80173133 0.00800
NM_001374385.1(ATP8B1):c.134A>C (p.Asn45Thr) rs146599962 0.00657
NM_000361.3(THBD):c.1504G>C (p.Gly502Arg) rs76135678 0.00624
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636 0.00598
NM_000204.5(CFI):c.1246A>C (p.Ile416Leu) rs61733901 0.00369
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00315
NM_000361.3(THBD):c.1456G>T (p.Asp486Tyr) rs41348347 0.00281
NM_000204.5(CFI):c.1322A>G (p.Lys441Arg) rs41278047 0.00251
NM_000204.5(CFI):c.548A>G (p.His183Arg) rs75612300 0.00216
NM_000204.5(CFI):c.1642G>C (p.Glu548Gln) rs7437875 0.00193
NM_000361.3(THBD):c.1502C>T (p.Pro501Leu) rs1800579 0.00193
NM_001710.6(CFB):c.724A>C (p.Ile242Leu) rs144812066 0.00175
NM_000204.5(CFI):c.916A>G (p.Ile306Val) rs113273712 0.00152
NM_000204.5(CFI):c.782G>A (p.Gly261Asp) rs112534524 0.00149
NM_000204.5(CFI):c.1657C>T (p.Pro553Ser) rs113460688 0.00134
NM_000478.6(ALPL):c.818C>T (p.Thr273Met) rs148405563 0.00101
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672 0.00098
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu) rs56355310 0.00095
NM_000361.3(THBD):c.1483C>T (p.Pro495Ser) rs1800578 0.00057
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_000204.5(CFI):c.355G>A (p.Gly119Arg) rs141853578 0.00040
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000204.5(CFI):c.319A>G (p.Thr107Ala) rs201419000 0.00035
NM_000361.3(THBD):c.-151G>T rs16984852 0.00025
NM_001710.6(CFB):c.221G>A (p.Arg74His) rs117314762 0.00025
NM_000204.5(CFI):c.1216C>T (p.Arg406Cys) rs181729783 0.00024
NM_000478.6(ALPL):c.534C>T (p.Tyr178=) rs201250289 0.00023
NM_000204.5(CFI):c.719C>G (p.Ala240Gly) rs146444258 0.00021
NM_000204.5(CFI):c.608C>T (p.Thr203Ile) rs138346388 0.00020
NM_000169.3(GLA):c.-44C>T rs781906252 0.00015
NM_000478.6(ALPL):c.436G>A (p.Glu146Lys) rs138587317 0.00015
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala) rs397515869 0.00014
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_000204.5(CFI):c.772G>A (p.Ala258Thr) rs199688124 0.00013
NM_172351.3(CD46):c.130A>C (p.Met44Leu) rs564910868 0.00012
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr) rs199669988 0.00011
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381 0.00009
NM_000204.5(CFI):c.454G>A (p.Val152Met) rs367677199 0.00009
NM_000204.5(CFI):c.1315G>A (p.Gly439Arg) rs568632297 0.00008
NM_000478.6(ALPL):c.1540G>A (p.Ala514Thr) rs367657406 0.00008
NM_000186.4(CFH):c.350+9T>C rs201686629 0.00007
NM_000204.5(CFI):c.1019T>C (p.Ile340Thr) rs769419740 0.00007
NM_000204.5(CFI):c.148C>G (p.Pro50Ala) rs144082872 0.00006
NM_000204.5(CFI):c.859G>A (p.Gly287Arg) rs182078921 0.00006
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014 0.00006
NM_000478.6(ALPL):c.371A>G (p.Asn124Ser) rs11586344 0.00006
NM_000478.6(ALPL):c.575T>C (p.Met192Thr) rs765011829 0.00006
NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser) rs149889416 0.00005
NM_000169.3(GLA):c.1184G>C (p.Gly395Ala) rs375661583 0.00004
NM_000169.3(GLA):c.1261A>G (p.Met421Val) rs144060196 0.00004
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833 0.00004
NM_000169.3(GLA):c.644A>G (p.Asn215Ser) rs28935197 0.00004
NM_000204.5(CFI):c.1733T>C (p.Ile578Thr) rs760148430 0.00004
NM_000204.5(CFI):c.559C>T (p.Arg187Ter) rs368615806 0.00004
NM_000478.6(ALPL):c.398C>G (p.Ala133Gly) rs184095519 0.00004
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu) rs121918010 0.00004
NM_172351.3(CD46):c.286+2T>G rs769742294 0.00004
NM_000169.3(GLA):c.1067G>A (p.Arg356Gln) rs869312163 0.00003
NM_000169.3(GLA):c.639+6A>C rs200096940 0.00003
NM_000204.5(CFI):c.1071T>G (p.Ile357Met) rs200881135 0.00003
NM_000204.5(CFI):c.1291G>A (p.Ala431Thr) rs758017357 0.00003
NM_000204.5(CFI):c.1420C>T (p.Arg474Ter) rs121964913 0.00003
NM_000204.5(CFI):c.1421G>A (p.Arg474Gln) rs765956155 0.00003
NM_000204.5(CFI):c.1429+1G>C rs368555424 0.00003
NM_000204.5(CFI):c.485G>A (p.Gly162Asp) rs546607673 0.00003
NM_000204.5(CFI):c.80_81del (p.Asp27fs) rs886043418 0.00003
NM_000443.4(ABCB4):c.3481C>T (p.Pro1161Ser) rs121918442 0.00003
NM_000478.6(ALPL):c.1120G>A (p.Val374Met) rs552831415 0.00003
NM_000478.6(ALPL):c.655A>G (p.Met219Val) rs772432010 0.00003
NM_000478.6(ALPL):c.673T>C (p.Tyr225His) rs759125473 0.00003
NM_000169.3(GLA):c.1181T>C (p.Leu394Pro) rs886044779 0.00002
NM_000169.3(GLA):c.192C>T (p.Ile64=) rs1555987080 0.00002
NM_000169.3(GLA):c.335G>A (p.Arg112His) rs372966991 0.00002
NM_000169.3(GLA):c.593T>C (p.Ile198Thr) rs727503950 0.00002
NM_000169.3(GLA):c.868A>C (p.Met290Leu) rs375538532 0.00002
NM_000186.4(CFH):c.1507C>G (p.Pro503Ala) rs570523689 0.00002
NM_000204.5(CFI):c.1234G>A (p.Val412Met) rs371432629 0.00002
NM_000204.5(CFI):c.1498G>A (p.Gly500Arg) rs558749473 0.00002
NM_000204.5(CFI):c.788G>T (p.Gly263Val) rs200544168 0.00002
NM_000478.6(ALPL):c.657G>T (p.Met219Ile) rs776117933 0.00002
NM_000478.6(ALPL):c.815G>A (p.Arg272His) rs781272386 0.00002
NM_001374385.1(ATP8B1):c.2558T>C (p.Phe853Ser) rs773092889 0.00002
NM_001374385.1(ATP8B1):c.2674G>A (p.Gly892Arg) rs121909098 0.00002
NM_004614.5(TK2):c.588A>T (p.Arg196Ser) rs752949191 0.00002
NM_000169.3(GLA):c.1028C>T (p.Pro343Leu) rs1555984858 0.00001
NM_000169.3(GLA):c.1060A>G (p.Ile354Val) rs782200316 0.00001
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys) rs797044776 0.00001
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser) rs782449839 0.00001
NM_000169.3(GLA):c.122C>G (p.Thr41Ser) rs782362194 0.00001
NM_000169.3(GLA):c.124A>C (p.Met42Leu) rs797044613 0.00001
NM_000169.3(GLA):c.596T>C (p.Val199Ala) rs781871113 0.00001
NM_000169.3(GLA):c.613C>G (p.Pro205Ala) rs397515870 0.00001
NM_000169.3(GLA):c.61C>T (p.Leu21Phe) rs782164084 0.00001
NM_000169.3(GLA):c.62T>C (p.Leu21Pro) rs869312135 0.00001
NM_000169.3(GLA):c.724A>G (p.Ile242Val) rs397515873 0.00001
NM_000169.3(GLA):c.870G>C (p.Met290Ile) rs869312438 0.00001
NM_000186.4(CFH):c.496C>T (p.Arg166Trp) rs746222626 0.00001
NM_000186.4(CFH):c.524G>C (p.Arg175Pro) rs139360826 0.00001
NM_000204.5(CFI):c.1015C>T (p.Arg339Ter) rs762761680 0.00001
NM_000204.5(CFI):c.1016G>A (p.Arg339Gln) rs773085612 0.00001
NM_000204.5(CFI):c.1195T>C (p.Trp399Arg) rs778871974 0.00001
NM_000204.5(CFI):c.1298T>C (p.Ile433Thr) rs1248287792 0.00001
NM_000204.5(CFI):c.1429G>C (p.Asp477His) rs754972981 0.00001
NM_000204.5(CFI):c.1534G>A (p.Gly512Ser) rs770828632 0.00001
NM_000204.5(CFI):c.1555G>A (p.Asp519Asn) rs121964918 0.00001
NM_000204.5(CFI):c.1624G>A (p.Gly542Ser) rs747755806 0.00001
NM_000204.5(CFI):c.1A>G (p.Met1Val) rs770655669 0.00001
NM_000204.5(CFI):c.452A>G (p.Asn151Ser) rs772044176 0.00001
NM_000204.5(CFI):c.662C>A (p.Ser221Tyr) rs377528991 0.00001
NM_000204.5(CFI):c.848A>G (p.Asp283Gly) rs756201106 0.00001
NM_000361.3(THBD):c.1209G>T (p.Arg403Ser) rs398122807 0.00001
NM_000443.4(ABCB4):c.1744C>T (p.Arg582Trp) rs1444056772 0.00001
NM_000478.6(ALPL):c.1022A>G (p.His341Arg) rs1382219911 0.00001
NM_000478.6(ALPL):c.106A>C (p.Thr36Pro) rs747167000 0.00001
NM_000478.6(ALPL):c.110T>C (p.Leu37Pro) rs143358506 0.00001
NM_000478.6(ALPL):c.1130C>T (p.Ala377Val) rs756418235 0.00001
NM_000478.6(ALPL):c.1166C>A (p.Thr389Asn) rs746390776 0.00001
NM_000478.6(ALPL):c.1183A>G (p.Ile395Val) rs772682471 0.00001
NM_000478.6(ALPL):c.1271T>C (p.Val424Ala) rs1436960562 0.00001
NM_000478.6(ALPL):c.1310C>T (p.Ala437Val) rs1437787933 0.00001
NM_000478.6(ALPL):c.1354G>A (p.Glu452Lys) rs966212736 0.00001
NM_000478.6(ALPL):c.1375G>A (p.Val459Met) rs1054159992 0.00001
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val) rs766656419 0.00001
NM_000478.6(ALPL):c.1426G>A (p.Glu476Lys) rs1057517173 0.00001
NM_000478.6(ALPL):c.1436A>G (p.Tyr479Cys) rs1235350055 0.00001
NM_000478.6(ALPL):c.152C>T (p.Ala51Val) rs1470389268 0.00001
NM_000478.6(ALPL):c.203C>T (p.Thr68Met) rs1644478533 0.00001
NM_000478.6(ALPL):c.215T>C (p.Ile72Thr) rs781264043 0.00001
NM_000478.6(ALPL):c.299C>T (p.Thr100Met) rs1201942473 0.00001
NM_000478.6(ALPL):c.350A>G (p.Tyr117Cys) rs1374504617 0.00001
NM_000478.6(ALPL):c.431G>A (p.Gly144Glu) rs1291792579 0.00001
NM_000478.6(ALPL):c.484G>A (p.Gly162Ser) rs760029254 0.00001
NM_000478.6(ALPL):c.530C>T (p.Ala177Val) rs1114167438 0.00001
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) rs199590449 0.00001
NM_000478.6(ALPL):c.613G>A (p.Ala205Thr) rs751455369 0.00001
NM_000478.6(ALPL):c.643A>G (p.Ile215Val) rs769903299 0.00001
NM_000478.6(ALPL):c.884T>C (p.Met295Thr) rs1220125702 0.00001
NM_000478.6(ALPL):c.931G>A (p.Glu311Lys) rs763457259 0.00001
NM_000478.6(ALPL):c.997+1G>T rs1292415045 0.00001
NM_001374385.1(ATP8B1):c.1882C>T (p.Arg628Trp) rs752045131 0.00001
NM_001374385.1(ATP8B1):c.2989G>A (p.Val997Met) rs1350129130 0.00001
NC_000023.11:g.101398856C>T rs727503948
NM_000064.4(C3):c.3470T>C (p.Ile1157Thr) rs1918142335
NM_000064.4(C3):c.3489+2T>C rs112977278
NM_000169.3(GLA):c.1001G>A (p.Gly334Glu) rs782690996
NM_000169.3(GLA):c.1018T>C (p.Trp340Arg) rs1555984869
NM_000169.3(GLA):c.1045T>C (p.Trp349Arg) rs1928137126
NM_000169.3(GLA):c.104G>A (p.Gly35Glu) rs869312137
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) rs869312162
NM_000169.3(GLA):c.1057_1058del (p.Met353fs) rs886044829
NM_000169.3(GLA):c.1059_1061del (p.Met353del)
NM_000169.3(GLA):c.1062_1076del (p.Asn355_Ile359del) rs1569302697
NM_000169.3(GLA):c.1066C>G (p.Arg356Gly)
NM_000169.3(GLA):c.1066C>T (p.Arg356Trp) rs104894827
NM_000169.3(GLA):c.1067G>C (p.Arg356Pro) rs869312163
NM_000169.3(GLA):c.1076T>C (p.Ile359Thr) rs1928132914
NM_000169.3(GLA):c.1079G>A (p.Gly360Asp) rs782509013
NM_000169.3(GLA):c.1084C>A (p.Pro362Thr)
NM_000169.3(GLA):c.1085C>T (p.Pro362Leu) rs730880441
NM_000169.3(GLA):c.109G>C (p.Ala37Pro) rs869312226
NM_000169.3(GLA):c.1115T>C (p.Leu372Pro) rs1928127729
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser) rs727504348
NM_000169.3(GLA):c.1124G>C (p.Gly375Ala) rs869312164
NM_000169.3(GLA):c.1132T>C (p.Cys378Arg) rs869312230
NM_000169.3(GLA):c.1133G>A (p.Cys378Tyr) rs2520851123
NM_000169.3(GLA):c.1139del (p.Pro380fs) rs2147470791
NM_000169.3(GLA):c.1147_1149del (p.Phe383del) rs1057519609
NM_000169.3(GLA):c.1157A>C (p.Gln386Pro) rs797044775
NM_000169.3(GLA):c.1165C>G (p.Pro389Ala) rs2520850302
NM_000169.3(GLA):c.1166C>G (p.Pro389Arg) rs2520850221
NM_000169.3(GLA):c.1176G>T (p.Arg392Ser) rs869312165
NM_000169.3(GLA):c.1184G>A (p.Gly395Glu)
NM_000169.3(GLA):c.118C>G (p.Pro40Ala) rs104894831
NM_000169.3(GLA):c.1197G>A (p.Trp399Ter)
NM_000169.3(GLA):c.119C>G (p.Pro40Arg) rs398123199
NM_000169.3(GLA):c.119C>T (p.Pro40Leu) rs398123199
NM_000169.3(GLA):c.1201dup (p.Ser401fs) rs1928120091
NM_000169.3(GLA):c.1225C>A (p.Pro409Thr)
NM_000169.3(GLA):c.1229C>T (p.Thr410Ile) rs730880442
NM_000169.3(GLA):c.1235_1236del (p.Thr412fs) rs797044777
NM_000169.3(GLA):c.126G>C (p.Met42Ile) rs1569306108
NM_000169.3(GLA):c.1277_1278del (p.Lys426fs) rs869312249
NM_000169.3(GLA):c.1284_1287del (p.Leu428fs) rs869312250
NM_000169.3(GLA):c.132G>T (p.Trp44Cys) rs398123202
NM_000169.3(GLA):c.153G>A (p.Met51Ile) rs869312255
NM_000169.3(GLA):c.154T>G (p.Cys52Gly) rs1057521047
NM_000169.3(GLA):c.178C>T (p.Pro60Ser) rs727504689
NM_000169.3(GLA):c.190A>T (p.Ile64Phe) rs869312139
NM_000169.3(GLA):c.194G>C (p.Ser65Thr) rs104894848
NM_000169.3(GLA):c.195-2A>G rs2147480960
NM_000169.3(GLA):c.202C>T (p.Leu68Phe) rs1928411447
NM_000169.3(GLA):c.215T>C (p.Met72Thr) rs1569304920
NM_000169.3(GLA):c.227T>C (p.Met76Thr) rs2520914744
NM_000169.3(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.3(GLA):c.265C>T (p.Leu89Phe) rs1555986305
NM_000169.3(GLA):c.266T>G (p.Leu89Arg) rs1569304886
NM_000169.3(GLA):c.272T>A (p.Ile91Asn) rs869312141
NM_000169.3(GLA):c.274G>T (p.Asp92Tyr) rs886041315
NM_000169.3(GLA):c.275A>G (p.Asp92Gly) rs1928406948
NM_000169.3(GLA):c.280T>A (p.Cys94Ser) rs2147480697
NM_000169.3(GLA):c.288G>A (p.Met96Ile)
NM_000169.3(GLA):c.290C>T (p.Ala97Val) rs1569304867
NM_000169.3(GLA):c.298A>T (p.Arg100Ter) rs869312272
NM_000169.3(GLA):c.311G>A (p.Gly104Asp) rs869312274
NM_000169.3(GLA):c.326A>G (p.Asp109Gly) rs1064794205
NM_000169.3(GLA):c.335G>T (p.Arg112Leu) rs372966991
NM_000169.3(GLA):c.337T>C (p.Phe113Leu) rs869312142
NM_000169.3(GLA):c.361G>C (p.Ala121Pro) rs782197638
NM_000169.3(GLA):c.369+5G>T rs398123209
NM_000169.3(GLA):c.383G>A (p.Gly128Glu) rs2520897726
NM_000169.3(GLA):c.386T>C (p.Leu129Pro) rs727503072
NM_000169.3(GLA):c.3G>A (p.Met1Ile) rs2147487910
NM_000169.3(GLA):c.400T>C (p.Tyr134His)
NM_000169.3(GLA):c.400T>G (p.Tyr134Asp) rs727503951
NM_000169.3(GLA):c.412G>A (p.Gly138Arg) rs1928326524
NM_000169.3(GLA):c.413dup (p.Asn139fs)
NM_000169.3(GLA):c.41T>C (p.Leu14Pro) rs730880455
NM_000169.3(GLA):c.422C>T (p.Thr141Ile) rs886044843
NM_000169.3(GLA):c.427G>C (p.Ala143Pro) rs104894845
NM_000169.3(GLA):c.436C>T (p.Pro146Ser) rs104894837
NM_000169.3(GLA):c.444T>G (p.Ser148Arg) rs1569304190
NM_000169.3(GLA):c.451TAC[1] (p.Tyr152del) rs2147477618
NM_000169.3(GLA):c.460A>G (p.Ile154Val) rs2520896270
NM_000169.3(GLA):c.476T>G (p.Phe159Cys) rs1555985814
NM_000169.3(GLA):c.47T>C (p.Leu16Pro) rs869312310
NM_000169.3(GLA):c.484T>C (p.Trp162Arg) rs28935196
NM_000169.3(GLA):c.486G>A (p.Trp162Ter) rs869312311
NM_000169.3(GLA):c.490G>T (p.Val164Leu) rs869312144
NM_000169.3(GLA):c.500T>C (p.Leu167Pro) rs1928319806
NM_000169.3(GLA):c.512G>A (p.Gly171Asp) rs2520895216
NM_000169.3(GLA):c.525C>G (p.Asp175Glu) rs782722844
NM_000169.3(GLA):c.540G>T (p.Leu180Phe) rs869312145
NM_000169.3(GLA):c.546T>C (p.Asp182=) rs2147477318
NM_000169.3(GLA):c.547+4A>G
NM_000169.3(GLA):c.547G>A (p.Gly183Ser) rs869312324
NM_000169.3(GLA):c.548-5T>A rs2147476253
NM_000169.3(GLA):c.548-7C>T rs2147476255
NM_000169.3(GLA):c.548G>A (p.Gly183Asp) rs398123212
NM_000169.3(GLA):c.557A>C (p.His186Pro)
NM_000169.3(GLA):c.56T>C (p.Leu19Pro) rs1928592578
NM_000169.3(GLA):c.595G>A (p.Val199Met) rs398123213
NM_000169.3(GLA):c.59C>A (p.Ala20Asp) rs869312134
NM_000169.3(GLA):c.59_72dup (p.Asp25fs) rs1555987175
NM_000169.3(GLA):c.604T>C (p.Cys202Arg) rs1569303843
NM_000169.3(GLA):c.605G>A (p.Cys202Tyr) rs869312344
NM_000169.3(GLA):c.607G>A (p.Glu203Lys) rs869312345
NM_000169.3(GLA):c.609G>C (p.Glu203Asp)
NM_000169.3(GLA):c.610T>C (p.Trp204Arg) rs869312148
NM_000169.3(GLA):c.613C>A (p.Pro205Thr) rs397515870
NM_000169.3(GLA):c.613C>T (p.Pro205Ser)
NM_000169.3(GLA):c.613_621del (p.Pro205_Tyr207del) rs1569303815
NM_000169.3(GLA):c.614C>T (p.Pro205Leu) rs886044879
NM_000169.3(GLA):c.620A>C (p.Tyr207Ser) rs797044727
NM_000169.3(GLA):c.638A>G (p.Lys213Arg) rs869312149
NM_000169.3(GLA):c.639+10_639+13del rs782473708
NM_000169.3(GLA):c.639+2T>C rs2147475773
NM_000169.3(GLA):c.639+4A>T rs398123215
NM_000169.3(GLA):c.639+5G>A rs1928277140
NM_000169.3(GLA):c.640-814T>C rs1603040008
NM_000169.3(GLA):c.671A>G (p.Asn224Ser) rs869312383
NM_000169.3(GLA):c.674A>G (p.His225Arg) rs2147473301
NM_000169.3(GLA):c.695T>C (p.Ile232Thr) rs797044749
NM_000169.3(GLA):c.700G>T (p.Asp234Tyr) rs1057524557
NM_000169.3(GLA):c.704C>G (p.Ser235Cys) rs797044746
NM_000169.3(GLA):c.713G>A (p.Ser238Asn) rs730880450
NM_000169.3(GLA):c.717A>G (p.Ile239Met) rs1928192530
NM_000169.3(GLA):c.730G>C (p.Asp244His) rs727503948
NM_000169.3(GLA):c.747C>A (p.Asn249Lys) rs782506652
NM_000169.3(GLA):c.749A>C (p.Gln250Pro) rs869312396
NM_000169.3(GLA):c.749A>G (p.Gln250Arg)
NM_000169.3(GLA):c.758T>C (p.Ile253Thr) rs727505292
NM_000169.3(GLA):c.758TTG[1] (p.Val254del) rs2520869573
NM_000169.3(GLA):c.761T>C (p.Val254Ala) rs869312153
NM_000169.3(GLA):c.770C>T (p.Ala257Val) rs1569303218
NM_000169.3(GLA):c.776C>G (p.Pro259Arg) rs869312399
NM_000169.3(GLA):c.779G>A (p.Gly260Glu)
NM_000169.3(GLA):c.782G>T (p.Gly261Val) rs869312401
NM_000169.3(GLA):c.791A>T (p.Asp264Val) rs28935486
NM_000169.3(GLA):c.794C>T (p.Pro265Leu)
NM_000169.3(GLA):c.800T>C (p.Met267Thr) rs869312408
NM_000169.3(GLA):c.800T>G (p.Met267Arg) rs869312408
NM_000169.3(GLA):c.801+1G>C rs868923658
NM_000169.3(GLA):c.801G>A (p.Met267Ile) rs730880451
NM_000169.3(GLA):c.802-2A>T rs797044499
NM_000169.3(GLA):c.809T>C (p.Ile270Thr) rs2520865089
NM_000169.3(GLA):c.815A>G (p.Asn272Ser) rs28935495
NM_000169.3(GLA):c.842_844del (p.Val281_Thr282delinsAla) rs1555985004
NM_000169.3(GLA):c.845C>A (p.Thr282Asn) rs2520864023
NM_000169.3(GLA):c.848A>G (p.Gln283Arg) rs2520863912
NM_000169.3(GLA):c.848dup (p.Met284fs) rs1555985002
NM_000169.3(GLA):c.861G>T (p.Trp287Cys) rs104894839
NM_000169.3(GLA):c.863C>A (p.Ala288Asp) rs869312437
NM_000169.3(GLA):c.865A>T (p.Ile289Phe) rs140329381
NM_000169.3(GLA):c.870G>A (p.Met290Ile) rs869312438
NM_000169.3(GLA):c.874G>A (p.Ala292Thr) rs111812846
NM_000169.3(GLA):c.874G>C (p.Ala292Pro) rs111812846
NM_000169.3(GLA):c.878C>T (p.Pro293Leu) rs869312441
NM_000169.3(GLA):c.881T>C (p.Leu294Ser)
NM_000169.3(GLA):c.886A>G (p.Met296Val) rs104894830
NM_000169.3(GLA):c.890C>T (p.Ser297Phe) rs28935489
NM_000169.3(GLA):c.898C>T (p.Leu300Phe) rs2147472132
NM_000169.3(GLA):c.899T>C (p.Leu300Pro) rs398123223
NM_000169.3(GLA):c.901C>G (p.Arg301Gly) rs398123224
NM_000169.3(GLA):c.902dup (p.His302fs) rs1928166458
NM_000169.3(GLA):c.908T>A (p.Ile303Asn) rs2520861972
NM_000169.3(GLA):c.924A>C (p.Lys308Asn) rs2147472050
NM_000169.3(GLA):c.92C>T (p.Ala31Val) rs869312448
NM_000169.3(GLA):c.936G>C (p.Gln312His) rs570042882
NM_000169.3(GLA):c.950T>C (p.Ile317Thr) rs869312158
NM_000169.3(GLA):c.95T>C (p.Leu32Pro) rs1569306168
NM_000169.3(GLA):c.961C>G (p.Gln321Glu) rs730880439
NM_000169.3(GLA):c.962A>G (p.Gln321Arg) rs1928161905
NM_000169.3(GLA):c.966C>A (p.Asp322Glu) rs398123226
NM_000169.3(GLA):c.973G>A (p.Gly325Ser) rs398123227
NM_000169.3(GLA):c.974G>A (p.Gly325Asp) rs398123228
NM_000169.3(GLA):c.979C>T (p.Gln327Ter) rs28935491
NM_000169.3(GLA):c.980A>G (p.Gln327Arg) rs869312160
NM_000169.3(GLA):c.982G>C (p.Gly328Arg) rs104894832
NM_000169.3(GLA):c.983G>A (p.Gly328Glu) rs28935492
NM_000169.3(GLA):c.983G>C (p.Gly328Ala) rs28935492
NM_000169.3(GLA):c.988del (p.Gln330fs) rs1928157897
NM_000169.3(GLA):c.98A>G (p.Asp33Gly) rs869312136
NM_000186.4(CFH):c.1606T>C (p.Cys536Arg) rs121913052
NM_000186.4(CFH):c.2876G>A (p.Cys959Tyr) rs121913053
NM_000186.4(CFH):c.3134-5T>C rs513699
NM_000186.4(CFH):c.3398C>G (p.Ser1133Ter) rs1652987369
NM_000186.4(CFH):c.350+6T>G rs387906550
NM_000186.4(CFH):c.3546G>C (p.Arg1182Ser) rs1653042358
NM_000186.4(CFH):c.3565C>T (p.Leu1189Phe) rs2149118712
NM_000186.4(CFH):c.380G>T (p.Arg127Leu) rs121913058
NM_000204.5(CFI):c.1006C>T (p.Arg336Ter) rs759676430
NM_000204.5(CFI):c.1044+9G>A rs568070697
NM_000204.5(CFI):c.1109T>C (p.Ile370Thr)
NM_000204.5(CFI):c.111dup (p.Tyr38fs) rs1560546604
NM_000204.5(CFI):c.1139A>G (p.His380Arg) rs1339444612
NM_000204.5(CFI):c.1149-2A>T rs1352826089
NM_000204.5(CFI):c.1233C>A (p.Tyr411Ter) rs752671716
NM_000204.5(CFI):c.1253A>T (p.His418Leu) rs121964912
NM_000204.5(CFI):c.128G>T (p.Cys43Phe)
NM_000204.5(CFI):c.1450_1454del (p.Leu484fs) rs752767269
NM_000204.5(CFI):c.1459G>T (p.Gly487Cys)
NM_000204.5(CFI):c.152G>C (p.Trp51Ser)
NM_000204.5(CFI):c.1580G>T (p.Gly527Val) rs1436775364
NM_000204.5(CFI):c.162C>G (p.Cys54Trp) rs1553915717
NM_000204.5(CFI):c.1646del (p.Asn549fs) rs1445308792
NM_000204.5(CFI):c.602dup (p.Arg202fs) rs2545439344
NM_000204.5(CFI):c.688G>A (p.Val230Met)
NM_000204.5(CFI):c.743G>A (p.Gly248Glu)
NM_000204.5(CFI):c.764G>A (p.Cys255Tyr)
NM_000204.5(CFI):c.803C>T (p.Ser268Leu) rs2126213962
NM_000204.5(CFI):c.870A>C (p.Glu290Asp)
NM_000361.3(THBD):c.1688dup (p.Gln564fs) rs2515202194
NM_000361.3(THBD):c.245del (p.Gly82fs) rs1600410451
NM_000443.4(ABCB4):c.1436C>T (p.Pro479Leu) rs748657435
NM_000443.4(ABCB4):c.1633C>G (p.Arg545Gly) rs397514620
NM_000443.4(ABCB4):c.88_91del (p.Lys30fs) rs1430830807
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) rs121918009
NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly) rs1219494274
NM_000478.6(ALPL):c.1015G>A (p.Gly339Arg) rs2148189619
NM_000478.6(ALPL):c.1024_1025delinsTT (p.Glu342Leu)
NM_000478.6(ALPL):c.1033G>C (p.Ala345Pro)
NM_000478.6(ALPL):c.1034C>T (p.Ala345Val) rs1644719715
NM_000478.6(ALPL):c.1064T>C (p.Met355Thr)
NM_000478.6(ALPL):c.1077C>G (p.Ile359Met) rs567349821
NM_000478.6(ALPL):c.1098CTC[1] (p.Ser368del) rs1558557341
NM_000478.6(ALPL):c.1114_1115del (p.Leu372fs) rs1553414600
NM_000478.6(ALPL):c.1132G>C (p.Asp378His) rs1553414611
NM_000478.6(ALPL):c.1132G>T (p.Asp378Tyr) rs1553414611
NM_000478.6(ALPL):c.113_116del (p.Lys38fs)
NM_000478.6(ALPL):c.1142A>G (p.His381Arg) rs1558557428
NM_000478.6(ALPL):c.1144G>A (p.Val382Ile) rs771540767
NM_000478.6(ALPL):c.1162T>C (p.Tyr388His) rs1644722881
NM_000478.6(ALPL):c.1171del (p.Arg391fs) rs751404811
NM_000478.6(ALPL):c.1171dup (p.Arg391fs) rs751404811
NM_000478.6(ALPL):c.1181_1182del (p.Ser394fs) rs1344601362
NM_000478.6(ALPL):c.1189+5del rs1208855163
NM_000478.6(ALPL):c.1195G>A (p.Ala399Thr)
NM_000478.6(ALPL):c.1207A>C (p.Ser403Arg)
NM_000478.6(ALPL):c.1213A>C (p.Thr405Pro) rs2545347156
NM_000478.6(ALPL):c.1240C>A (p.Leu414Met) rs2148192444
NM_000478.6(ALPL):c.1243T>G (p.Tyr415Asp) rs2148192455
NM_000478.6(ALPL):c.1252G>A (p.Gly418Arg)
NM_000478.6(ALPL):c.1258G>A (p.Gly420Ser) rs1644740557
NM_000478.6(ALPL):c.1259G>C (p.Gly420Ala) rs2545347491
NM_000478.6(ALPL):c.1276G>A (p.Gly426Ser) rs770548228
NM_000478.6(ALPL):c.1277G>A (p.Gly426Asp) rs2545347584
NM_000478.6(ALPL):c.1283G>A (p.Arg428Gln) rs1644741201
NM_000478.6(ALPL):c.1285G>A (p.Glu429Lys) rs1553414868
NM_000478.6(ALPL):c.1328C>T (p.Ala443Val) rs768053120
NM_000478.6(ALPL):c.1366G>A (p.Gly456Arg) rs121918016
NM_000478.6(ALPL):c.1375G>T (p.Val459Leu) rs1054159992
NM_000478.6(ALPL):c.1399A>G (p.Met467Val)
NM_000478.6(ALPL):c.1427A>C (p.Glu476Ala) rs2148195004
NM_000478.6(ALPL):c.1444C>T (p.His482Tyr) rs780857373
NM_000478.6(ALPL):c.1447G>A (p.Val483Met)
NM_000478.6(ALPL):c.146A>T (p.Asn49Ile) rs868522953
NM_000478.6(ALPL):c.1474del (p.Ala492fs) rs1558558976
NM_000478.6(ALPL):c.1483G>A (p.Gly495Ser) rs761079751
NM_000478.6(ALPL):c.1487A>G (p.His496Arg) rs1644757200
NM_000478.6(ALPL):c.1491_1492del (p.Ala498fs)
NM_000478.6(ALPL):c.178G>C (p.Asp60His) rs1644472852
NM_000478.6(ALPL):c.17T>C (p.Leu6Ser)
NM_000478.6(ALPL):c.182-1G>A
NM_000478.6(ALPL):c.188G>T (p.Gly63Val) rs1490668038
NM_000478.6(ALPL):c.194C>A (p.Ser65Tyr) rs1644478359
NM_000478.6(ALPL):c.212G>C (p.Arg71Pro) rs121918003
NM_000478.6(ALPL):c.223G>A (p.Gly75Ser) rs1304394441
NM_000478.6(ALPL):c.244G>A (p.Gly82Arg) rs2545292224
NM_000478.6(ALPL):c.244G>C (p.Gly82Arg) rs2545292224
NM_000478.6(ALPL):c.286G>C (p.Ala96Pro) rs2545292484
NM_000478.6(ALPL):c.297+1G>A
NM_000478.6(ALPL):c.297+5G>A rs776187726
NM_000478.6(ALPL):c.304_312dup (p.Asn104_Ala105insAsnThrAsn)
NM_000478.6(ALPL):c.334G>A (p.Gly112Ser) rs1384701659
NM_000478.6(ALPL):c.344C>T (p.Thr115Ile) rs2545298833
NM_000478.6(ALPL):c.361G>A (p.Val121Met) rs1476072388
NM_000478.6(ALPL):c.379A>G (p.Thr127Ala) rs1570273880
NM_000478.6(ALPL):c.380C>T (p.Thr127Ile)
NM_000478.6(ALPL):c.395C>T (p.Ala132Val) rs1558548925
NM_000478.6(ALPL):c.41T>C (p.Leu14Pro) rs2148135377
NM_000478.6(ALPL):c.457T>C (p.Trp153Arg) rs1644512630
NM_000478.6(ALPL):c.485G>T (p.Gly162Val) rs121918012
NM_000478.6(ALPL):c.495CAC[1] (p.Thr167del) rs2545303392
NM_000478.6(ALPL):c.508A>G (p.Asn170Asp) rs2148161378
NM_000478.6(ALPL):c.50C>T (p.Ser17Phe)
NM_000478.6(ALPL):c.560A>G (p.Tyr187Cys) rs2545303934
NM_000478.6(ALPL):c.62-1G>C
NM_000478.6(ALPL):c.644T>C (p.Ile215Thr)
NM_000478.6(ALPL):c.650delinsCTAA (p.Val217delinsAlaLys) rs1553413155
NM_000478.6(ALPL):c.653T>C (p.Ile218Thr)
NM_000478.6(ALPL):c.675_676insCA (p.Met226fs) rs2545317081
NM_000478.6(ALPL):c.69_74del rs2148150789
NM_000478.6(ALPL):c.715G>T (p.Asp239Tyr) rs1416572796
NM_000478.6(ALPL):c.738G>T (p.Arg246Ser) rs1223142821
NM_000478.6(ALPL):c.793-30_793-11del rs2545324149
NM_000478.6(ALPL):c.815G>T (p.Arg272Leu) rs781272386
NM_000478.6(ALPL):c.82T>G (p.Tyr28Asp)
NM_000478.6(ALPL):c.855C>G (p.Tyr285Ter) rs2545324707
NM_000478.6(ALPL):c.874C>A (p.Pro292Thr) rs765458125
NM_000478.6(ALPL):c.876_882delinsT (p.Gly293_Asp294del) rs1553414078
NM_000478.6(ALPL):c.928dup (p.Ser310fs)
NM_000478.6(ALPL):c.94C>T (p.Gln32Ter) rs1209147330
NM_000478.6(ALPL):c.997+2T>G rs1057517391
NM_000478.6(ALPL):c.997+3A>C rs1553414147
NM_000478.6(ALPL):c.997+3A>G rs1553414147
NM_001374385.1(ATP8B1):c.1581CTT[2] (p.Phe529del) rs756395915
NM_001374385.1(ATP8B1):c.958_967del (p.Met320fs)
NM_003647.3(DGKE):c.1000C>T (p.Gln334Ter) rs312262697
NM_003647.3(DGKE):c.1A>T (p.Met1Leu) rs1906465563
NM_003647.3(DGKE):c.32C>A (p.Ser11Ter) rs148605410
NM_003647.3(DGKE):c.472dup (p.Trp158fs) rs312262698
NM_003647.3(DGKE):c.486dup (p.Val163fs) rs312262699
NM_003647.3(DGKE):c.818G>C (p.Arg273Pro) rs312262695
NM_003647.3(DGKE):c.889-1G>A rs312262696
NM_004614.5(TK2):c.367C>G (p.Arg123Gly) rs753881948
NM_004614.5(TK2):c.544del (p.Leu182fs)
NM_172351.3(CD46):c.476-1G>A rs1441390681

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