### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = VHL) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "VHL" "von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase" "3" "p25.3" "unknown" "NG_008212.3" "UD_132118266319" "" "http://www.LOVD.nl/VHL" "" "1" "12687" "7428" "608537" "1" "1" "1" "1" " This database is one of the \"Paraganglioma and pheochromocytoma\" gene variant databases, curated by the Laboratory of Human Molecular Genetics, de Duve Institute, Brussels (Belgium).\r\nEstablishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/VHL_codingDNA.html" "1" "" " This database is one of the \"Paraganglioma and pheochromocytoma\" gene variant databases." "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2016-11-25 10:24:02" "00000" "2025-10-16 14:07:02" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00022600" "VHL" "von Hippel-Lindau tumor suppressor, transcript variant 1" "001" "NM_000551.3" "" "NP_000542.1" "" "" "" "-213" "4347" "642" "10183319" "10195354" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01382" "RCC" "carcinoma, renal cell, nonpapillary (RCC)" "" "144700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-10-23 12:02:21" "01503" "pheochromocytoma" "pheochromocytoma (susceptibility to)" "AD" "171300" "cerebral cortex" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-01-04 19:51:33" "01603" "VHLS" "Von Hippel-Lindau syndrome" "AD" "193300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02024" "ECYT2" "erythrocytosis, familial, type 2 (ECYT-2)" "AR" "263400" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05093" "cancer" "cancer" "" "" "" "" "" "00006" "2015-10-23 13:34:05" "" "" "05664" "cancer, renal" "cancer, renal" "" "" "" "" "" "00006" "2019-10-25 18:51:02" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "VHL" "01382" "VHL" "01503" "VHL" "01603" "VHL" "02024" ## Individuals ## Do not remove or alter this header ## ## Count = 59 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00037327" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037328" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037329" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037330" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037331" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037332" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037333" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037334" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037335" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037336" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037337" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00073758" "" "" "" "1" "" "01679" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00073759" "" "" "" "1" "" "00006" "{PMID:SO 2002:11987242}" "endemic in the Russian mid-Volga River region of Chuvashia" "" "" "Russian Federation" "" "0" "" "" "" "" "00164721" "" "" "" "1" "" "01807" "" "" "?" "" "(Germany)" "" "0" "" "" "" "" "00249426" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00266479" "" "" "" "1" "" "02337" "" "" "" "" "Argentina" "" "0" "" "" "Argentina" "" "00266482" "" "" "" "1" "" "02337" "" "" "" "" "Argentina" "" "0" "" "" "Italy" "" "00266487" "" "" "" "1" "" "02355" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266489" "" "" "" "1" "" "02355" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266490" "" "" "" "1" "" "02355" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266492" "" "" "" "1" "" "02355" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266493" "" "" "" "1" "" "02355" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266494" "" "" "" "1" "" "02355" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266495" "" "" "" "1" "" "02355" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266496" "" "" "" "1" "" "02355" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266497" "" "" "" "1" "" "02355" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266498" "" "" "" "1" "" "02355" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266500" "" "" "" "1" "" "02355" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266501" "" "" "" "1" "" "02355" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266502" "" "" "" "1" "" "02355" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266503" "" "" "" "1" "" "02355" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266507" "" "" "" "1" "" "02355" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266508" "" "" "" "1" "" "02355" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266510" "" "" "" "1" "" "02355" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266511" "" "" "" "1" "" "02355" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266512" "" "" "" "1" "" "02355" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266513" "" "" "" "1" "" "02355" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266514" "" "" "" "1" "" "02355" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00266515" "" "" "" "1" "" "02355" "" "" "" "" "Argentina" "" "0" "" "" "" "" "00269116" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00293178" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293179" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293180" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295196" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00333778" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "982" "00333779" "" "" "" "17" "" "00000" "{PMID:Stone 2017:28559085}" "family, 17 affected" "M" "" "(United States)" "" "0" "" "" "" "983" "00333780" "" "" "" "7" "" "00000" "{PMID:Stone 2017:28559085}" "family, 7 affected" "F" "" "(United States)" "" "0" "" "" "" "984" "00333781" "" "" "" "3" "" "00000" "{PMID:Stone 2017:28559085}" "family, 3 affected" "M" "" "(United States)" "" "0" "" "" "" "985" "00333782" "" "" "" "4" "" "00000" "{PMID:Stone 2017:28559085}" "family, 4 affected" "F" "" "(United States)" "" "0" "" "" "" "986" "00396838" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "" "" "Korea" "" "0" "" "" "" "" "00396839" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "" "" "Korea" "" "0" "" "" "" "" "00396840" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "" "" "Korea" "" "0" "" "" "" "" "00396841" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "" "" "Korea" "" "0" "" "" "" "" "00396842" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "" "" "Korea" "" "0" "" "" "" "" "00396843" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "" "" "Korea" "" "0" "" "" "" "" "00396844" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "" "" "Korea" "" "0" "" "" "" "" "00396845" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "" "" "Korea" "" "0" "" "" "" "" "00396846" "" "" "" "1" "" "00006" "{PMID:Kim 2021:33219105}" "" "" "" "Korea" "" "0" "" "" "" "" "00453441" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 56 "{{individualid}}" "{{diseaseid}}" "00037327" "00198" "00037328" "00198" "00037329" "00198" "00037330" "00198" "00037331" "00198" "00037332" "00198" "00037333" "00198" "00037335" "00198" "00037337" "00198" "00073758" "02024" "00073759" "02024" "00164721" "00198" "00266479" "05093" "00266482" "05664" "00266487" "00198" "00266489" "00198" "00266490" "00198" "00266492" "00198" "00266493" "00198" "00266494" "00198" "00266495" "00198" "00266496" "00198" "00266497" "00198" "00266498" "00198" "00266500" "00198" "00266501" "00198" "00266502" "00198" "00266503" "00198" "00266507" "00198" "00266508" "00198" "00266510" "00198" "00266511" "00198" "00266512" "00198" "00266513" "00198" "00266514" "00198" "00266515" "00198" "00269116" "00198" "00293178" "00198" "00293179" "00198" "00293180" "00198" "00295196" "00198" "00333778" "04214" "00333779" "04214" "00333780" "04214" "00333781" "04214" "00333782" "04214" "00396838" "00198" "00396839" "00198" "00396840" "00198" "00396841" "00198" "00396842" "00198" "00396843" "00198" "00396844" "00198" "00396845" "00198" "00396846" "00198" "00453441" "01603" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01382, 01503, 01603, 02024, 04214, 05093, 05664 ## Count = 53 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Cancer/Sub_type}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000053575" "02024" "00073758" "01679" "Familial, autosomal recessive" "" "congenital secondary erythrocytosis" "" "" "" "" "" "" "" "" "" "" "" "" "0000053576" "02024" "00073759" "00006" "Familial, autosomal recessive" "" "Chuvash polycythemia (CP)" "" "" "" "" "" "" "" "" "" "" "" "" "0000129760" "00198" "00164721" "01807" "Unknown" "" "HP:0006770 (Clear cell renal cell carcinoma)" "" "" "" "" "" "" "" "" "" "" "" "" "0000156882" "00198" "00037327" "01164" "Unknown" "" "Von-Hippel-Lindau syndrome, Angiomyolipom, renal cell cancer" "" "" "" "" "" "" "" "" "" "" "Von Hippel Lindau syndrome?" "" "0000156883" "00198" "00037328" "01164" "Unknown" "" "suspected Von-Hippel-Lindau syndrome" "" "" "" "" "" "" "" "" "" "" "Von Hippel Lindau syndrome?" "" "0000156884" "00198" "00037329" "01164" "Unknown" "" "renal cell carcinoma and spinal hemangioblastoma" "" "" "" "" "" "" "" "" "" "" "renal cell carcinoma" "" "0000156885" "00198" "00037330" "01164" "Unknown" "" "VHLS" "" "" "" "" "" "" "" "" "" "" "Von Hippel Lindau syndrome?" "" "0000156886" "00198" "00037331" "01164" "Unknown" "" "Von-Hippel-Lindau disease" "" "" "" "" "" "" "" "" "" "" "Von Hippel Lindau syndrome?" "" "0000156887" "00198" "00037332" "01164" "Unknown" "" "VHL" "" "" "" "" "" "" "" "" "" "" "Von Hippel Lindau syndrome?" "" "0000156888" "00198" "00037333" "01164" "Unknown" "" "Phäochromozytom of adrenal gland left (1999), renal cyst, two paternal aunts with thyroid carcinoma and gastric cancer at the age of 60" "" "" "" "" "" "" "" "" "" "" "von Hippel-Lindau syndrome?" "" "0000156889" "00198" "00037335" "01164" "Unknown" "" "suspected VHL , renal-Ca at the age of 33, sister breast cancer at the age of 40 and gastric cancer at the age of 50; father: colon cancer at the age of 50; uncle probably brain tumour" "" "" "" "" "" "" "" "" "" "" "Von Hippel Lindau syndrome?" "" "0000156890" "00198" "00037337" "01164" "Unknown" "" "renal cell carcinoma, pheochromocytoma and a pancreatic tumour" "" "" "" "" "" "" "" "" "" "" "renal cell carcinoma" "" "0000188393" "00198" "00249426" "01164" "Unknown" "" "HP:0003002 (Breast carcinoma)" "" "" "" "" "" "" "" "" "" "" "" "" "0000204213" "05093" "00266479" "02337" "Unknown" "" "posterior fossa hemangioblastoma; no family history" "" "" "" "" "" "" "" "" "" "" "hemangioblastoma" "" "0000204216" "05664" "00266482" "02337" "Familial" "" "family history" "" "" "" "" "" "" "" "" "" "" "renal cancer" "" "0000204222" "00198" "00266487" "02355" "Unknown" "" "tumor; no family history" "" "" "" "" "" "" "" "" "" "" "tumor" "" "0000204224" "00198" "00266489" "02355" "Familial" "" "tumor; family history" "" "" "" "" "" "" "" "" "" "" "tumor" "" "0000204225" "00198" "00266490" "02355" "Familial" "" "tumor; family history" "" "" "" "" "" "" "" "" "" "" "tumor" "" "0000204227" "00198" "00266492" "02355" "Unknown" "" "tumor; no family history" "" "" "" "" "" "" "" "" "" "" "tumor" "" "0000204228" "00198" "00266493" "02355" "Familial" "" "tumor; family history" "" "" "" "" "" "" "" "" "" "" "tumor" "" "0000204229" "00198" "00266494" "02355" "Familial" "" "tumor; family history" "" "" "" "" "" "" "" "" "" "" "tumor" "" "0000204230" "00198" "00266495" "02355" "Familial" "" "tumor; family history" "" "" "" "" "" "" "" "" "" "" "tumor" "" "0000204231" "00198" "00266496" "02355" "Familial" "" "tumor; family history" "" "" "" "" "" "" "" "" "" "" "tumor" "" "0000204232" "00198" "00266497" "02355" "Unknown" "" "tumor; no family history" "" "" "" "" "" "" "" "" "" "" "tumor" "" "0000204233" "00198" "00266498" "02355" "Unknown" "" "tumor; no family history" "" "" "" "" "" "" "" "" "" "" "tumor" "" "0000204235" "00198" "00266500" "02355" "Familial" "" "tumor; family history" "" "" "" "" "" "" "" "" "" "" "tumor" "" "0000204236" "00198" "00266501" "02355" "Familial" "" "tumor; family history" "" "" "" "" "" "" "" "" "" "" "tumor" "" "0000204237" "00198" "00266502" "02355" "Familial" "" "tumor; family history" "" "" "" "" "" "" "" "" "" "" "tumor" "" "0000204238" "00198" "00266503" "02355" "Familial" "" "tumor; family history" "" "" "" "" "" "" "" "" "" "" "tumor" "" "0000204242" "00198" "00266507" "02355" "Familial" "" "tumor; family history" "" "" "" "" "" "" "" "" "" "" "tumor" "" "0000204243" "00198" "00266508" "02355" "Familial" "" "tumor; family history" "" "" "" "" "" "" "" "" "" "" "tumor" "" "0000204245" "00198" "00266510" "02355" "Familial" "" "tumor; family history" "" "" "" "" "" "" "" "" "" "" "tumor" "" "0000204246" "00198" "00266511" "02355" "Unknown" "" "tumor; no family history" "" "" "" "" "" "" "" "" "" "" "tumor" "" "0000204247" "00198" "00266512" "02355" "Familial" "" "tumor; family history" "" "" "" "" "" "" "" "" "" "" "tumor" "" "0000204248" "00198" "00266513" "02355" "Unknown" "" "tumor; no family history" "" "" "" "" "" "" "" "" "" "" "tumor" "" "0000204249" "00198" "00266514" "02355" "Familial" "" "tumor; family history" "" "" "" "" "" "" "" "" "" "" "tumor" "" "0000204250" "00198" "00266515" "02355" "Unknown" "" "tumor; no family history" "" "" "" "" "" "" "" "" "" "" "tumor" "" "0000206961" "00198" "00269116" "01164" "Unknown" "" "Hemangioblastoma (HP:0010797)" "" "" "" "" "" "" "" "" "" "" "" "" "0000251962" "04214" "00333778" "00000" "Familial, autosomal dominant" "51y" "clinical category IIID1" "" "" "" "" "" "" "" "" "" "" "von Hippel Lindau" "" "0000251963" "04214" "00333779" "00000" "Familial, autosomal dominant" "34y" "clinical category IIID1" "" "" "" "" "" "" "" "" "" "" "von Hippel Lindau" "" "0000251964" "04214" "00333780" "00000" "Familial, autosomal dominant" "49y" "clinical category IIID1" "" "" "" "" "" "" "" "" "" "" "von Hippel Lindau" "" "0000251965" "04214" "00333781" "00000" "Familial, autosomal dominant" "47y" "clinical category IIID1" "" "" "" "" "" "" "" "" "" "" "von Hippel Lindau" "" "0000251966" "04214" "00333782" "00000" "Familial, autosomal dominant" "41y" "clinical category IIID1" "" "" "" "" "" "" "" "" "" "" "von Hippel Lindau" "" "0000289996" "00198" "00396838" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "0000289997" "00198" "00396839" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "0000289998" "00198" "00396840" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "0000289999" "00198" "00396841" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "0000290000" "00198" "00396842" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "0000290001" "00198" "00396843" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "0000290002" "00198" "00396844" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "0000290003" "00198" "00396845" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "0000290004" "00198" "00396846" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "pheochromocytoma/paraganglioma" "" "0000342105" "01603" "00453441" "03544" "Isolated (sporadic)" "" "HP:0010797" "" "" "" "" "" "" "" "" "" "VHLS" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 59 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000037397" "00037327" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037398" "00037328" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037399" "00037329" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037400" "00037330" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037401" "00037331" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037402" "00037332" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037403" "00037333" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037404" "00037334" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037405" "00037335" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037406" "00037336" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037407" "00037337" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000073919" "00073758" "1" "01679" "00006" "2015-06-26 15:06:32" "" "" "SEQ" "DNA" "" "" "0000073920" "00073759" "1" "00006" "01678" "2012-08-10 01:16:59" "" "" "SEQ" "DNA" "" "" "0000165588" "00164721" "1" "01807" "01807" "2018-06-05 19:09:17" "" "" "SEQ" "DNA" "" "" "0000250534" "00249426" "1" "01164" "01164" "2019-07-31 15:28:32" "" "" "SEQ-NG-S" "DNA" "" "" "0000267605" "00266479" "1" "02337" "01873" "2019-08-07 20:11:25" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000267608" "00266482" "1" "02337" "01873" "2019-08-07 20:11:25" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000267614" "00266487" "1" "02355" "01873" "2019-08-07 20:11:25" "" "" "SEQ" "DNA" "" "" "0000267616" "00266489" "1" "02355" "01873" "2019-08-07 20:11:25" "" "" "SEQ" "DNA" "" "" "0000267617" "00266490" "1" "02355" "01873" "2019-08-07 20:11:25" "" "" "SEQ" "DNA" "" "" "0000267619" "00266492" "1" "02355" "01873" "2019-08-07 20:11:25" "" "" "SEQ" "DNA" "" "" "0000267620" "00266493" "1" "02355" "01873" "2019-08-07 20:11:25" "" "" "SEQ" "DNA" "" "" "0000267621" "00266494" "1" "02355" "01873" "2019-08-07 20:11:25" "" "" "SEQ" "DNA" "" "" "0000267622" "00266495" "1" "02355" "01873" "2019-08-07 20:11:25" "" "" "SEQ" "DNA" "" "" "0000267623" "00266496" "1" "02355" "01873" "2019-08-07 20:11:25" "" "" "SEQ" "DNA" "" "" "0000267624" "00266497" "1" "02355" "01873" "2019-08-07 20:11:25" "" "" "SEQ" "DNA" "" "" "0000267625" "00266498" "1" "02355" "01873" "2019-08-07 20:11:25" "" "" "SEQ" "DNA" "" "" "0000267627" "00266500" "1" "02355" "01873" "2019-08-07 20:11:25" "" "" "SEQ" "DNA" "" "" "0000267628" "00266501" "1" "02355" "01873" "2019-08-07 20:11:25" "" "" "SEQ" "DNA" "" "" "0000267629" "00266502" "1" "02355" "01873" "2019-08-07 20:11:25" "" "" "SEQ" "DNA" "" "" "0000267630" "00266503" "1" "02355" "01873" "2019-08-07 20:11:25" "" "" "SEQ" "DNA" "" "" "0000267634" "00266507" "1" "02355" "01873" "2019-08-07 20:11:25" "" "" "SEQ" "DNA" "" "" "0000267635" "00266508" "1" "02355" "01873" "2019-08-07 20:11:25" "" "" "SEQ" "DNA" "" "" "0000267637" "00266510" "1" "02355" "01873" "2019-08-07 20:11:25" "" "" "SEQ" "DNA" "" "" "0000267638" "00266511" "1" "02355" "01873" "2019-08-07 20:11:25" "" "" "SEQ" "DNA" "" "" "0000267639" "00266512" "1" "02355" "01873" "2019-08-07 20:11:25" "" "" "SEQ" "DNA" "" "" "0000267640" "00266513" "1" "02355" "01873" "2019-08-07 20:11:25" "" "" "SEQ" "DNA" "" "" "0000267641" "00266514" "1" "02355" "01873" "2019-08-07 20:11:25" "" "" "SEQ" "DNA" "" "" "0000267642" "00266515" "1" "02355" "01873" "2019-08-07 20:11:25" "" "" "SEQ" "DNA" "" "" "0000270247" "00269116" "1" "01164" "01164" "2019-11-06 14:42:13" "" "" "SEQ-NG-S" "DNA" "" "" "0000294346" "00293178" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294347" "00293179" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294348" "00293180" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296364" "00295196" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000335004" "00333778" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000335005" "00333779" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000335006" "00333780" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000335007" "00333781" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000335008" "00333782" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000398079" "00396838" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ" "DNA" "" "" "0000398080" "00396839" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ" "DNA" "" "" "0000398081" "00396840" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ" "DNA" "" "" "0000398082" "00396841" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000398083" "00396842" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000398084" "00396843" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000398085" "00396844" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000398086" "00396845" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000398087" "00396846" "1" "00006" "00006" "2021-12-17 15:43:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000455055" "00453441" "1" "03544" "03544" "2024-08-28 09:35:22" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 50 "{{screeningid}}" "{{geneid}}" "0000037397" "VHL" "0000037398" "VHL" "0000037399" "VHL" "0000037400" "VHL" "0000037401" "VHL" "0000037402" "VHL" "0000037403" "VHL" "0000037404" "VHL" "0000037405" "VHL" "0000037406" "VHL" "0000037407" "VHL" "0000073919" "VHL" "0000073920" "VHL" "0000267614" "VHL" "0000267616" "VHL" "0000267617" "VHL" "0000267619" "VHL" "0000267620" "VHL" "0000267621" "VHL" "0000267622" "VHL" "0000267623" "VHL" "0000267624" "VHL" "0000267625" "VHL" "0000267627" "SDHB" "0000267627" "VHL" "0000267628" "VHL" "0000267629" "VHL" "0000267630" "VHL" "0000267634" "VHL" "0000267635" "VHL" "0000267637" "VHL" "0000267638" "VHL" "0000267639" "VHL" "0000267640" "VHL" "0000267641" "VHL" "0000267642" "VHL" "0000335004" "VHL" "0000335005" "VHL" "0000335006" "VHL" "0000335007" "VHL" "0000335008" "VHL" "0000398079" "VHL" "0000398080" "VHL" "0000398081" "VHL" "0000398082" "VHL" "0000398083" "VHL" "0000398084" "VHL" "0000398085" "VHL" "0000398086" "VHL" "0000398087" "VHL" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 205 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000064522" "1" "10" "3" "10188328" "10188328" "subst" "0.000491339" "01164" "VHL_000389" "g.10188328C>T" "0.001 MAF" "" "" "" "" "Germline" "" "rs5030834" "0" "" "" "g.10146644C>T" "" "benign" "" "0000064523" "1" "10" "3" "10188363" "10188363" "subst" "0.0121197" "01164" "VHL_000512" "g.10188363A>G" "<0.04" "" "" "" "" "Germline" "" "rs34661876" "0" "" "" "g.10146679A>G" "" "benign" "" "0000064524" "1" "10" "3" "10183605" "10183605" "subst" "0.00305923" "01164" "VHL_000330" "g.10183605C>T" "" "" "" "" "" "Germline" "" "rs35460768" "0" "" "" "g.10141921C>T" "" "benign" "" "0000064525" "1" "90" "3" "10183758" "10183760" "del" "0" "01164" "VHL_000097" "g.10183758_10183760del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10142074_10142076del" "" "pathogenic" "" "0000064526" "1" "90" "3" "10191489" "10191489" "subst" "0" "01164" "VHL_000004" "g.10191489G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10149805G>A" "" "pathogenic" "" "0000064527" "1" "90" "3" "10188323" "10188323" "subst" "0" "01164" "VHL_000513" "g.10188323A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10146639A>G" "" "pathogenic" "" "0000064528" "1" "50" "3" "10183773" "10183773" "subst" "4.3958E-6" "01164" "VHL_000514" "g.10183773C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10142089C>T" "" "VUS" "" "0000064529" "1" "10" "3" "10183876" "10183876" "subst" "0.0124389" "01164" "VHL_000081" "g.10183876G>C" "" "" "" "" "" "Germline" "" "rs61758376" "0" "" "" "g.10142192G>C" "" "benign" "" "0000064530" "1" "50" "3" "10183700" "10183700" "subst" "0" "01164" "VHL_000515" "g.10183700G>C" "" "" "" "" "PolyPhen2: (PSIC: 0,9)- probably damaging; SIFT: deleterious" "Germline" "" "" "0" "" "" "g.10142016G>C" "" "VUS" "" "0000064531" "1" "90" "3" "10191507" "10191507" "subst" "4.06121E-6" "01164" "VHL_000007" "g.10191507G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10149823G>A" "" "pathogenic" "" "0000064532" "1" "90" "3" "10188250" "10188250" "subst" "0" "01164" "VHL_000511" "g.10188250C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10146566C>A" "" "pathogenic" "" "0000117712" "10" "90" "3" "10183693" "10183693" "subst" "0" "01679" "VHL_000002" "g.10183693G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.10142009G>C" "" "pathogenic" "" "0000117713" "10" "99" "3" "10191605" "10191605" "subst" "0.000219339" "00006" "VHL_000001" "g.10191605C>T" "" "{PMID:SO 2002:11987242}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10149921C>T" "" "pathogenic" "" "0000117714" "20" "99" "3" "10191605" "10191605" "subst" "0.000219339" "00006" "VHL_000001" "g.10191605C>T" "" "{PMID:SO 2002:11987242}" "" "" "" "Germline" "yes" "" "0" "" "" "g.10149921C>T" "" "pathogenic" "" "0000117715" "20" "90" "3" "10183693" "10183693" "subst" "0" "01679" "VHL_000002" "g.10183693G>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.10142009G>C" "" "pathogenic" "" "0000250833" "0" "90" "3" "10188215" "10188215" "subst" "0" "02326" "VHL_000529" "g.10188215A>G" "" "" "" "VHL(NM_000551.3):c.358A>G (p.R120G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10146531A>G" "" "pathogenic" "" "0000250837" "0" "90" "3" "10188323" "10188323" "subst" "0" "02326" "VHL_000513" "g.10188323A>G" "" "" "" "VHL(NM_000551.3):c.463+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10146639A>G" "" "pathogenic" "" "0000252448" "0" "70" "3" "10183824" "10183824" "subst" "0" "02326" "VHL_000528" "g.10183824A>G" "" "" "" "VHL(NM_000551.3):c.293A>G (p.Y98C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10142140A>G" "" "likely pathogenic" "" "0000252466" "0" "90" "3" "10188319" "10188319" "subst" "0" "02326" "VHL_000531" "g.10188319A>C" "" "" "" "VHL(NM_000551.3):c.462A>C (p.P154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10146635A>C" "" "pathogenic" "" "0000252593" "0" "90" "3" "10191474" "10191474" "subst" "0" "02326" "VHL_000535" "g.10191474A>G" "" "" "" "VHL(NM_000551.3):c.467A>G (p.Y156C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10149790A>G" "" "pathogenic" "" "0000252646" "0" "50" "3" "10188223" "10188223" "subst" "4.06055E-6" "02326" "VHL_000565" "g.10188223A>G" "" "" "" "VHL(NM_000551.3):c.366A>G (p.A122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10146539A>G" "" "VUS" "" "0000255213" "0" "30" "3" "10183527" "10183527" "subst" "0.00018423" "01943" "VHL_000516" "g.10183527A>C" "" "" "" "VHL(NM_000551.3):c.-5A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10141843A>C" "" "likely benign" "" "0000255388" "0" "90" "3" "10188215" "10188215" "subst" "0" "01943" "VHL_000529" "g.10188215A>G" "" "" "" "VHL(NM_000551.3):c.358A>G (p.R120G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10146531A>G" "" "pathogenic" "" "0000255392" "0" "90" "3" "10188323" "10188323" "subst" "0" "01943" "VHL_000513" "g.10188323A>G" "" "" "" "VHL(NM_000551.3):c.463+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10146639A>G" "" "pathogenic" "" "0000255576" "0" "90" "3" "10183764" "10183764" "subst" "0" "01943" "VHL_000556" "g.10183764A>G" "" "" "" "VHL(NM_000551.3):c.233A>G (p.N78S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10142080A>G" "" "pathogenic" "" "0000255623" "0" "90" "3" "10188311" "10188311" "subst" "0" "01943" "VHL_000530" "g.10188311A>C" "" "" "" "VHL(NM_000551.3):c.454A>C (p.T152P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10146627A>C" "" "pathogenic" "" "0000312994" "0" "30" "3" "10183699" "10183699" "subst" "0" "02325" "VHL_000521" "g.10183699C>T" "" "" "" "VHL(NM_000551.4):c.168C>T (p.A56=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10142015C>T" "" "likely benign" "" "0000312995" "0" "50" "3" "10188265" "10188265" "subst" "4.06055E-6" "02325" "VHL_000568" "g.10188265T>G" "" "" "" "VHL(NM_000551.3):c.408T>G (p.(Phe136Leu)), VHL(NM_000551.4):c.408T>G (p.F136L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10146581T>G" "" "VUS" "" "0000312996" "0" "30" "3" "10188328" "10188328" "subst" "0.000491339" "02325" "VHL_000389" "g.10188328C>T" "" "" "" "VHL(NM_000551.3):c.463+8C>T, VHL(NM_000551.4):c.463+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10146644C>T" "" "likely benign" "" "0000312997" "0" "90" "3" "10191605" "10191605" "subst" "0.000219339" "02325" "VHL_000001" "g.10191605C>T" "" "" "" "VHL(NM_000551.3):c.598C>T (p.R200W), VHL(NM_000551.4):c.598C>T (p.R200W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10149921C>T" "" "pathogenic" "" "0000312998" "0" "30" "3" "10183605" "10183605" "subst" "0.00305923" "02325" "VHL_000330" "g.10183605C>T" "" "" "" "VHL(NM_000551.3):c.74C>T (p.P25L, p.(Pro25Leu)), VHL(NM_000551.4):c.74C>T (p.P25L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10141921C>T" "" "likely benign" "" "0000313641" "0" "30" "3" "10188193" "10188193" "subst" "4.87286E-5" "02329" "VHL_000562" "g.10188193G>A" "" "" "" "VHL(NM_000551.4):c.341-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10146509G>A" "" "likely benign" "" "0000313642" "0" "30" "3" "10183565" "10183565" "subst" "0" "02329" "VHL_000518" "g.10183565G>A" "" "" "" "VHL(NM_000551.4):c.34G>A (p.E12K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10141881G>A" "" "likely benign" "" "0000313643" "0" "30" "3" "10188328" "10188328" "subst" "0.000491339" "02329" "VHL_000389" "g.10188328C>T" "" "" "" "VHL(NM_000551.3):c.463+8C>T, VHL(NM_000551.4):c.463+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10146644C>T" "" "likely benign" "" "0000313644" "0" "30" "3" "10183605" "10183605" "subst" "0.00305923" "02329" "VHL_000330" "g.10183605C>T" "" "" "" "VHL(NM_000551.3):c.74C>T (p.P25L, p.(Pro25Leu)), VHL(NM_000551.4):c.74C>T (p.P25L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10141921C>T" "" "likely benign" "" "0000315274" "0" "30" "3" "10183657" "10183657" "subst" "0" "02326" "VHL_000519" "g.10183657G>C" "" "" "" "VHL(NM_000551.3):c.126G>C (p.E42D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10141973G>C" "" "likely benign" "" "0000315275" "0" "30" "3" "10183681" "10183681" "subst" "0.000452984" "02326" "VHL_000520" "g.10183681C>G" "" "" "" "VHL(NM_000551.3):c.150C>G (p.A50=), VHL(NM_000551.4):c.150C>G (p.A50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10141997C>G" "" "likely benign" "" "0000315276" "0" "50" "3" "10183693" "10183693" "subst" "0" "02326" "VHL_000002" "g.10183693G>C" "" "" "" "VHL(NM_000551.3):c.162G>C (p.M54I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10142009G>C" "" "VUS" "" "0000315277" "0" "90" "3" "10183725" "10183725" "subst" "0" "02326" "VHL_000524" "g.10183725C>G" "" "" "" "VHL(NM_000551.3):c.194C>G (p.S65W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10142041C>G" "" "pathogenic" "" "0000315278" "0" "90" "3" "10183725" "10183725" "subst" "0" "02326" "VHL_000525" "g.10183725C>T" "" "" "" "VHL(NM_000551.3):c.194C>T (p.S65L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10142041C>T" "" "pathogenic" "" "0000315279" "0" "70" "3" "10183733" "10183733" "subst" "0" "02326" "VHL_000526" "g.10183733T>C" "" "" "" "VHL(NM_000551.3):c.202T>C (p.S68P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10142049T>C" "" "likely pathogenic" "" "0000315280" "0" "90" "3" "10183739" "10183739" "subst" "0" "02326" "VHL_000527" "g.10183739G>A" "" "" "" "VHL(NM_000551.3):c.208G>A (p.E70K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10142055G>A" "" "pathogenic" "" "0000315282" "0" "90" "3" "10183795" "10183795" "subst" "0" "02326" "VHL_000558" "g.10183795G>T" "" "" "" "VHL(NM_000551.3):c.264G>T (p.W88C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10142111G>T" "" "pathogenic" "" "0000315283" "0" "90" "3" "10183872" "10183872" "subst" "0" "02326" "VHL_000546" "g.10183872G>A" "" "" "" "VHL(NM_000551.3):c.340+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10142188G>A" "" "pathogenic" "" "0000315284" "0" "30" "3" "10183876" "10183876" "subst" "0.0124389" "02326" "VHL_000081" "g.10183876G>C" "" "" "" "VHL(NM_000551.3):c.340+5G>C, VHL(NM_000551.4):c.340+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10142192G>C" "" "likely benign" "" "0000315285" "0" "90" "3" "10188210" "10188210" "subst" "0" "02326" "VHL_000564" "g.10188210T>C" "" "" "" "VHL(NM_000551.3):c.353T>C (p.L118P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10146526T>C" "" "pathogenic" "" "0000315286" "0" "90" "3" "10188233" "10188233" "subst" "2.03028E-5" "02326" "VHL_000566" "g.10188233G>A" "" "" "" "VHL(NM_000551.3):c.376G>A (p.D126N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10146549G>A" "" "pathogenic" "" "0000315287" "0" "70" "3" "10183534" "10183534" "subst" "6.01639E-5" "02326" "VHL_000517" "g.10183534G>A" "" "" "" "VHL(NM_000551.3):c.3G>A (p.M1?), VHL(NM_000551.4):c.3G>A (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10141850G>A" "" "likely pathogenic" "" "0000315288" "0" "50" "3" "10188309" "10188309" "subst" "0" "02326" "VHL_000569" "g.10188309T>C" "" "" "" "VHL(NM_000551.3):c.452T>C (p.I151T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10146625T>C" "" "VUS" "" "0000315289" "0" "10" "3" "10188428" "10188428" "subst" "0" "02326" "VHL_000533" "g.10188428T>G" "" "" "" "VHL(NM_000551.3):c.463+108T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10146744T>G" "" "benign" "" "0000315290" "0" "30" "3" "10188328" "10188328" "subst" "0.000491339" "02326" "VHL_000389" "g.10188328C>T" "" "" "" "VHL(NM_000551.3):c.463+8C>T, VHL(NM_000551.4):c.463+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10146644C>T" "" "likely benign" "" "0000315291" "0" "50" "3" "10191489" "10191489" "subst" "0" "02326" "VHL_000004" "g.10191489G>A" "" "" "" "VHL(NM_000551.3):c.482G>A (p.R161Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10149805G>A" "" "VUS" "" "0000315292" "0" "90" "3" "10191493" "10191493" "subst" "0" "02326" "VHL_000537" "g.10191493C>A" "" "" "" "VHL(NM_000551.3):c.486C>A (p.C162*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10149809C>A" "" "pathogenic" "" "0000315293" "0" "90" "3" "10191506" "10191506" "subst" "4.06095E-6" "02326" "VHL_000539" "g.10191506C>T" "" "" "" "VHL(NM_000551.3):c.499C>T (p.R167W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10149822C>T" "" "pathogenic" "" "0000315294" "0" "90" "3" "10191507" "10191507" "subst" "4.06121E-6" "02326" "VHL_000007" "g.10191507G>A" "" "" "" "VHL(NM_000551.3):c.500G>A (p.R167Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10149823G>A" "" "pathogenic" "" "0000315295" "0" "90" "3" "10191516" "10191516" "subst" "0" "02326" "VHL_000541" "g.10191516T>A" "" "" "" "VHL(NM_000551.3):c.509T>A (p.V170D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10149832T>A" "" "pathogenic" "" "0000315296" "0" "50" "3" "10191592" "10191592" "subst" "0" "02326" "VHL_000542" "g.10191592G>A" "" "" "" "VHL(NM_000551.3):c.585G>A (p.Q195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10149908G>A" "" "VUS" "" "0000315297" "0" "10" "3" "10183605" "10183605" "subst" "0.00305923" "02326" "VHL_000330" "g.10183605C>T" "" "" "" "VHL(NM_000551.3):c.74C>T (p.P25L, p.(Pro25Leu)), VHL(NM_000551.4):c.74C>T (p.P25L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10141921C>T" "" "benign" "" "0000319576" "0" "90" "3" "10183722" "10183722" "subst" "0" "01943" "VHL_000522" "g.10183722G>C" "" "" "" "VHL(NM_000551.3):c.191G>C (p.R64P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10142038G>C" "" "pathogenic" "" "0000319577" "0" "90" "3" "10183724" "10183724" "subst" "0" "01943" "VHL_000523" "g.10183724T>C" "" "" "" "VHL(NM_000551.3):c.193T>C (p.S65P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10142040T>C" "" "pathogenic" "" "0000319578" "0" "90" "3" "10183725" "10183725" "subst" "0" "01943" "VHL_000524" "g.10183725C>G" "" "" "" "VHL(NM_000551.3):c.194C>G (p.S65W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10142041C>G" "" "pathogenic" "" "0000319579" "0" "90" "3" "10183758" "10183760" "del" "0" "01943" "VHL_000097" "g.10183758_10183760del" "" "" "" "VHL(NM_000551.3):c.227_229delTCT (p.F76del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10142074_10142076del" "" "pathogenic" "" "0000319580" "0" "90" "3" "10183797" "10183797" "subst" "0" "01943" "VHL_000559" "g.10183797T>C" "" "" "" "VHL(NM_000551.3):c.266T>C (p.L89P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10142113T>C" "" "pathogenic" "" "0000319581" "0" "90" "3" "10183863" "10183863" "subst" "0" "01943" "VHL_000560" "g.10183863G>A" "" "" "" "VHL(NM_000551.3):c.332G>A (p.S111N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10142179G>A" "" "pathogenic" "" "0000319582" "0" "90" "3" "10184170" "10184170" "del" "0" "01943" "VHL_000561" "g.10184170del" "" "" "" "VHL(NM_000551.3):c.340+299delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10142486del" "" "pathogenic" "" "0000319583" "0" "10" "3" "10183876" "10183876" "subst" "0.0124389" "01943" "VHL_000081" "g.10183876G>C" "" "" "" "VHL(NM_000551.3):c.340+5G>C, VHL(NM_000551.4):c.340+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10142192G>C" "" "benign" "" "0000319584" "0" "90" "3" "10188206" "10188206" "subst" "0" "01943" "VHL_000563" "g.10188206T>C" "" "" "" "VHL(NM_000551.3):c.349T>C (p.W117R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10146522T>C" "" "pathogenic" "" "0000319585" "0" "90" "3" "10188245" "10188245" "subst" "0" "01943" "VHL_000567" "g.10188245G>T" "" "" "" "VHL(NM_000551.3):c.388G>T (p.V130F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10146561G>T" "" "pathogenic" "" "0000319586" "0" "50" "3" "10188310" "10188310" "subst" "0" "01943" "VHL_000570" "g.10188310C>G" "" "" "" "VHL(NM_000551.3):c.453C>G (p.I151M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10146626C>G" "" "VUS" "" "0000319587" "0" "10" "3" "10188357" "10188359" "del" "0" "01943" "VHL_000532" "g.10188357_10188359del" "" "" "" "VHL(NM_000551.3):c.463+37_463+39delTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10146673_10146675del" "" "benign" "" "0000319588" "0" "30" "3" "10188328" "10188328" "subst" "0.000491339" "01943" "VHL_000389" "g.10188328C>T" "" "" "" "VHL(NM_000551.3):c.463+8C>T, VHL(NM_000551.4):c.463+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10146644C>T" "" "likely benign" "" "0000319589" "0" "90" "3" "10191460" "10191460" "subst" "0" "01943" "VHL_000534" "g.10191460T>A" "" "" "" "VHL(NM_000551.3):c.464-11T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10149776T>A" "" "pathogenic" "" "0000319591" "0" "90" "3" "10191493" "10191493" "subst" "0" "01943" "VHL_000538" "g.10191493C>G" "" "" "" "VHL(NM_000551.3):c.486C>G (p.C162W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10149809C>G" "" "pathogenic" "" "0000319592" "0" "90" "3" "10191507" "10191507" "subst" "4.06121E-6" "01943" "VHL_000007" "g.10191507G>A" "" "" "" "VHL(NM_000551.3):c.500G>A (p.R167Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10149823G>A" "" "pathogenic" "" "0000319594" "0" "90" "3" "10191516" "10191516" "subst" "0" "01943" "VHL_000541" "g.10191516T>A" "" "" "" "VHL(NM_000551.3):c.509T>A (p.V170D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10149832T>A" "" "pathogenic" "" "0000319595" "0" "90" "3" "10191605" "10191605" "subst" "0.000219339" "01943" "VHL_000001" "g.10191605C>T" "" "" "" "VHL(NM_000551.3):c.598C>T (p.R200W), VHL(NM_000551.4):c.598C>T (p.R200W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10149921C>T" "" "pathogenic" "" "0000319596" "0" "10" "3" "10183605" "10183605" "subst" "0.00305923" "01943" "VHL_000330" "g.10183605C>T" "" "" "" "VHL(NM_000551.3):c.74C>T (p.P25L, p.(Pro25Leu)), VHL(NM_000551.4):c.74C>T (p.P25L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10141921C>T" "" "benign" "" "0000336881" "0" "10" "3" "10183455" "10183455" "subst" "0" "02327" "VHL_000543" "g.10183455C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10141771C>T" "" "benign" "" "0000336883" "0" "90" "3" "10183872" "10183872" "subst" "0" "02327" "VHL_000546" "g.10183872G>A" "" "" "" "VHL(NM_000551.3):c.340+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10142188G>A" "" "pathogenic" "" "0000336884" "0" "10" "3" "10188161" "10188161" "subst" "0.00522306" "02327" "VHL_000547" "g.10188161G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10146477G>A" "" "benign" "" "0000336885" "0" "30" "3" "10188328" "10188328" "subst" "0.000491339" "02327" "VHL_000389" "g.10188328C>T" "" "" "" "VHL(NM_000551.3):c.463+8C>T, VHL(NM_000551.4):c.463+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10146644C>T" "" "likely benign" "" "0000339043" "0" "90" "3" "10188250" "10188250" "subst" "0" "02327" "VHL_000511" "g.10188250C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10146566C>A" "" "pathogenic" "" "0000341702" "0" "70" "3" "10183851" "10183851" "subst" "0" "02327" "VHL_000544" "g.10183851G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10142167G>C" "" "likely pathogenic" "" "0000342048" "0" "90" "3" "10191507" "10191507" "subst" "4.06121E-6" "02327" "VHL_000007" "g.10191507G>A" "" "" "" "VHL(NM_000551.3):c.500G>A (p.R167Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10149823G>A" "" "pathogenic" "" "0000344286" "0" "90" "3" "10191492" "10191492" "subst" "0" "02327" "VHL_000551" "g.10191492G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10149808G>T" "" "pathogenic" "" "0000344645" "0" "90" "3" "10191614" "10191615" "del" "0" "02327" "VHL_000554" "g.10191614_10191615del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10149930_10149931del" "" "pathogenic" "" "0000345114" "0" "90" "3" "10188257" "10188257" "subst" "0" "02327" "VHL_000548" "g.10188257G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10146573G>T" "" "pathogenic" "" "0000346921" "0" "90" "3" "10191479" "10191479" "subst" "0" "02327" "VHL_000550" "g.10191479C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10149795C>G" "" "pathogenic" "" "0000348327" "0" "10" "3" "10183605" "10183605" "subst" "0.00305923" "02327" "VHL_000330" "g.10183605C>T" "" "" "" "VHL(NM_000551.3):c.74C>T (p.P25L, p.(Pro25Leu)), VHL(NM_000551.4):c.74C>T (p.P25L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10141921C>T" "" "benign" "" "0000350802" "0" "90" "3" "10191509" "10191510" "ins" "0" "02327" "VHL_000552" "g.10191509_10191510insTTGTCCGT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.10149825_10149826insTTGTCCGT" "" "pathogenic" "" "0000369313" "0" "90" "3" "10188256" "10188257" "del" "0" "01807" "VHL_000571" "g.10188256_10188257del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.10146572_10146573del" "" "pathogenic" "" "0000517342" "0" "30" "3" "10183699" "10183699" "subst" "5.0781E-6" "02329" "VHL_000572" "g.10183699C>G" "" "" "" "VHL(NM_000551.4):c.168C>G (p.A56=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10142015C>G" "" "likely benign" "" "0000517343" "0" "30" "3" "10183714" "10183714" "subst" "0.000998552" "01943" "VHL_000573" "g.10183714C>G" "" "" "" "VHL(NM_000551.3):c.183C>G (p.P61=), VHL(NM_000551.4):c.183C>G (p.P61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10142030C>G" "" "likely benign" "" "0000517344" "0" "30" "3" "10183714" "10183714" "subst" "0.000998552" "02326" "VHL_000573" "g.10183714C>G" "" "" "" "VHL(NM_000551.3):c.183C>G (p.P61=), VHL(NM_000551.4):c.183C>G (p.P61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10142030C>G" "" "likely benign" "" "0000517345" "0" "50" "3" "10183763" "10183763" "subst" "0" "02326" "VHL_000574" "g.10183763A>G" "" "" "" "VHL(NM_000551.3):c.232A>G (p.N78D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10142079A>G" "" "VUS" "" "0000517346" "0" "90" "3" "10183771" "10183771" "subst" "0" "02327" "VHL_000575" "g.10183771T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10142087T>G" "" "pathogenic" "" "0000517347" "0" "30" "3" "10183772" "10183772" "subst" "0.000197625" "02325" "VHL_000576" "g.10183772C>T" "" "" "" "VHL(NM_000551.3):c.241C>T (p.P81S), VHL(NM_000551.4):c.241C>T (p.P81S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10142088C>T" "" "likely benign" "" "0000517348" "0" "30" "3" "10183772" "10183772" "subst" "0.000197625" "02326" "VHL_000576" "g.10183772C>T" "" "" "" "VHL(NM_000551.3):c.241C>T (p.P81S), VHL(NM_000551.4):c.241C>T (p.P81S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10142088C>T" "" "likely benign" "" "0000517349" "0" "90" "3" "10183781" "10183781" "subst" "0" "02327" "VHL_000577" "g.10183781G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10142097G>C" "" "pathogenic" "" "0000517350" "0" "70" "3" "10183787" "10183787" "subst" "0" "02326" "VHL_000578" "g.10183787C>A" "" "" "" "VHL(NM_000551.3):c.256C>A (p.P86T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10142103C>A" "" "likely pathogenic" "" "0000517351" "0" "90" "3" "10183790" "10183791" "ins" "0" "02326" "VHL_000579" "g.10183790_10183791insA" "" "" "" "VHL(NM_000551.3):c.259_260insA (p.V87Dfs*45)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10142106_10142107insA" "" "pathogenic" "" "0000517352" "0" "90" "3" "10183800" "10183800" "subst" "0" "02326" "VHL_000580" "g.10183800A>T" "" "" "" "VHL(NM_000551.3):c.269A>T (p.N90I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10142116A>T" "" "pathogenic" "" "0000517353" "0" "90" "3" "10188202" "10188202" "subst" "0" "01943" "VHL_000581" "g.10188202C>G" "" "" "" "VHL(NM_000551.3):c.345C>G (p.H115Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10146518C>G" "" "pathogenic" "" "0000517354" "0" "50" "3" "10188202" "10188202" "subst" "0" "02326" "VHL_000581" "g.10188202C>G" "" "" "" "VHL(NM_000551.3):c.345C>G (p.H115Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10146518C>G" "" "VUS" "" "0000517355" "0" "90" "3" "10188210" "10188210" "subst" "0" "02327" "VHL_000564" "g.10188210T>C" "" "" "" "VHL(NM_000551.3):c.353T>C (p.L118P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10146526T>C" "" "pathogenic" "" "0000517356" "0" "90" "3" "10188309" "10188309" "subst" "0" "01943" "VHL_000582" "g.10188309T>G" "" "" "" "VHL(NM_000551.3):c.452T>G (p.I151S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10146625T>G" "" "pathogenic" "" "0000517357" "0" "90" "3" "10191480" "10191480" "dup" "0" "01943" "VHL_000583" "g.10191480dup" "" "" "" "VHL(NM_000551.3):c.473dupT (p.K159Efs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10149796dup" "" "pathogenic" "" "0000517358" "0" "90" "3" "10191504" "10191504" "subst" "0" "01943" "VHL_000584" "g.10191504T>C" "" "" "" "VHL(NM_000551.3):c.497T>C (p.V166A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10149820T>C" "" "pathogenic" "" "0000517359" "0" "90" "3" "10191504" "10191504" "subst" "0" "02326" "VHL_000584" "g.10191504T>C" "" "" "" "VHL(NM_000551.3):c.497T>C (p.V166A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10149820T>C" "" "pathogenic" "" "0000517360" "0" "90" "3" "10191508" "10191509" "ins" "0" "01943" "VHL_000585" "g.10191508_10191509insTTGTCCGT" "" "" "" "VHL(NM_000551.3):c.501_502insTTGTCCGT (p.S168Lfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10149824_10149825insTTGTCCGT" "" "pathogenic" "" "0000517361" "0" "70" "3" "10191605" "10191605" "subst" "0.000219339" "02327" "VHL_000001" "g.10191605C>T" "" "" "" "VHL(NM_000551.3):c.598C>T (p.R200W), VHL(NM_000551.4):c.598C>T (p.R200W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10149921C>T" "" "likely pathogenic" "" "0000579834" "0" "70" "3" "10188265" "10188265" "subst" "4.06055E-6" "01164" "VHL_000568" "g.10188265T>G" "" "" "" "" "ACMG grading: PM2, PM5, PM1, PP3; reported in Shmueli 2013. PLoS One 8: e66333" "Germline" "" "rs878854125" "0" "" "" "g.10146581T>G" "" "likely pathogenic" "ACMG" "0000599127" "1" "90" "3" "10183725" "10183725" "subst" "0" "02337" "VHL_000589" "g.10183725C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10142041C>A" "" "pathogenic" "" "0000599128" "0" "50" "3" "10183535" "10183535" "subst" "0" "02337" "VHL_000588" "g.10183535C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10141851C>T" "" "VUS" "" "0000599129" "1" "90" "3" "10183725" "10183725" "subst" "0" "02337" "VHL_000589" "g.10183725C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10142041C>A" "" "pathogenic" "" "0000599130" "0" "10" "3" "10183274" "10183274" "subst" "0" "02337" "VHL_000586" "g.10183274C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10141590C>T" "" "benign" "" "0000599131" "0" "10" "3" "10183337" "10183337" "subst" "0" "02337" "VHL_000587" "g.10183337G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10141653G>A" "" "benign" "" "0000599132" "0" "10" "3" "10188428" "10188428" "subst" "0" "02337" "VHL_000533" "g.10188428T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10146744T>G" "" "benign" "" "0000599137" "1" "90" "3" "10188218" "10188218" "del" "0" "02355" "VHL_000598" "g.10188218del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10146534del" "" "pathogenic" "" "0000599139" "1" "90" "3" "10188270" "10188270" "subst" "0" "02355" "VHL_000600" "g.10188270C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10146586C>G" "" "pathogenic" "" "0000599140" "1" "90" "3" "10191488" "10191488" "subst" "0" "02355" "VHL_000604" "g.10191488C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10149804C>T" "" "pathogenic" "" "0000599142" "1" "90" "3" "10183794" "10183794" "subst" "0" "02355" "VHL_000594" "g.10183794G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10142110G>A" "" "pathogenic" "" "0000599143" "1" "90" "3" "10191480" "10191480" "subst" "0" "02355" "VHL_000603" "g.10191480T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10149796T>C" "" "pathogenic" "" "0000599144" "1" "90" "3" "10188287" "10188287" "subst" "0" "02355" "VHL_000601" "g.10188287G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10146603G>T" "" "pathogenic" "" "0000599145" "1" "90" "3" "10183748" "10183748" "subst" "0" "02355" "VHL_000590" "g.10183748C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10142064C>T" "" "pathogenic" "" "0000599146" "1" "90" "3" "10191477" "10191477" "subst" "0" "02355" "VHL_000602" "g.10191477C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10149793C>T" "" "pathogenic" "" "0000599147" "1" "90" "3" "10183748" "10183748" "dup" "0" "02355" "VHL_000591" "g.10183748dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10142064dup" "" "pathogenic" "" "0000599148" "1" "90" "3" "10183787" "10183787" "subst" "0" "02355" "VHL_000593" "g.10183787C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10142103C>T" "" "pathogenic" "" "0000599150" "1" "90" "3" "10183781" "10183781" "subst" "0" "02355" "VHL_000592" "g.10183781G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10142097G>T" "" "pathogenic" "" "0000599151" "1" "90" "3" "10191493" "10191493" "subst" "0" "02355" "VHL_000538" "g.10191493C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10149809C>G" "" "pathogenic" "" "0000599152" "1" "90" "3" "10191489" "10191489" "subst" "0" "02355" "VHL_000004" "g.10191489G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10149805G>A" "" "pathogenic" "" "0000599153" "1" "90" "3" "10191507" "10191507" "subst" "4.06121E-6" "02355" "VHL_000007" "g.10191507G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10149823G>A" "" "pathogenic" "" "0000599157" "1" "90" "3" "10191582" "10191582" "subst" "0" "02355" "VHL_000606" "g.10191582C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10149898C>T" "" "pathogenic" "" "0000599158" "1" "90" "3" "10191495" "10191495" "subst" "0" "02355" "VHL_000605" "g.10191495T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10149811T>G" "" "pathogenic" "" "0000599160" "1" "90" "3" "10191606" "10191606" "subst" "0" "02355" "VHL_000607" "g.10191606G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10149922G>C" "" "pathogenic" "" "0000599161" "1" "90" "3" "10183808" "10183808" "subst" "0" "02355" "VHL_000595" "g.10183808G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10142124G>A" "" "pathogenic" "" "0000599162" "1" "70" "3" "10188228" "10188228" "subst" "0" "02355" "VHL_000599" "g.10188228C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10146544C>T" "" "likely pathogenic" "" "0000599163" "1" "90" "3" "10188200" "10188252" "dup" "0" "02355" "VHL_000597" "g.10188200_10188252dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10146516_10146568dup" "" "pathogenic" "" "0000599164" "1" "90" "3" "10191506" "10191506" "subst" "4.06095E-6" "02355" "VHL_000539" "g.10191506C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10149822C>T" "" "pathogenic" "" "0000599165" "1" "90" "3" "10183850" "10183850" "subst" "0" "02355" "VHL_000596" "g.10183850C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.10142166C>G" "" "pathogenic" "" "0000602985" "0" "70" "3" "10183776" "10183776" "subst" "0" "01164" "VHL_000608" "g.10183776G>C" "" "" "" "" "ACMG: PM2,PM5,PP1,PP3,PP4; Dollfus et al. 2002. Invest Ophthalmol Vis Sci 43: 3067; Chacon-Camacho et al. 2010. Clin Exp Ophthalmol 38: 277" "Germline" "" "rs794726890" "0" "" "" "g.10142092G>C" "" "likely pathogenic" "ACMG" "0000608190" "0" "30" "3" "10183537" "10183537" "subst" "0" "02327" "VHL_000609" "g.10183537C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10141853C>A" "" "likely benign" "" "0000608191" "0" "70" "3" "10183629" "10183629" "subst" "0" "01943" "VHL_000610" "g.10183629C>A" "" "" "" "VHL(NM_000551.3):c.98C>A (p.S33*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10141945C>A" "" "likely pathogenic" "" "0000608192" "0" "50" "3" "10183635" "10183635" "subst" "0" "01943" "VHL_000611" "g.10183635C>A" "" "" "" "VHL(NM_000551.3):c.104C>A (p.A35D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10141951C>A" "" "VUS" "" "0000608193" "0" "30" "3" "10183685" "10183685" "subst" "5.8723E-5" "02327" "VHL_000612" "g.10183685G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10142001G>A" "" "likely benign" "" "0000608194" "0" "30" "3" "10183714" "10183714" "subst" "0.000998552" "02327" "VHL_000573" "g.10183714C>G" "" "" "" "VHL(NM_000551.3):c.183C>G (p.P61=), VHL(NM_000551.4):c.183C>G (p.P61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10142030C>G" "" "likely benign" "" "0000608195" "0" "10" "3" "10183876" "10183876" "subst" "0.0124389" "02329" "VHL_000081" "g.10183876G>C" "" "" "" "VHL(NM_000551.3):c.340+5G>C, VHL(NM_000551.4):c.340+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10142192G>C" "" "benign" "" "0000608196" "0" "70" "3" "10188310" "10188310" "subst" "0" "02327" "VHL_000570" "g.10188310C>G" "" "" "" "VHL(NM_000551.3):c.453C>G (p.I151M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10146626C>G" "" "likely pathogenic" "" "0000621148" "0" "30" "3" "10183681" "10183681" "subst" "0.000452984" "02329" "VHL_000520" "g.10183681C>G" "" "" "" "VHL(NM_000551.3):c.150C>G (p.A50=), VHL(NM_000551.4):c.150C>G (p.A50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10141997C>G" "" "likely benign" "" "0000651035" "1" "70" "3" "10183723" "10183723" "del" "0" "03575" "VHL_000613" "g.10183723del" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs730882031}" "Germline" "" "rs730882031" "0" "" "" "g.10142039del" "" "likely pathogenic" "" "0000651036" "1" "90" "3" "10188208" "10188208" "subst" "0" "03575" "VHL_000614" "g.10188208G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs727504215}" "Germline" "" "rs727504215" "0" "" "" "g.10146524G>T" "" "pathogenic" "" "0000651037" "1" "90" "3" "10188245" "10188245" "subst" "0" "03575" "VHL_000615" "g.10188245G>C" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs104893830}" "Germline" "" "rs104893830" "0" "" "" "g.10146561G>C" "" "pathogenic" "" "0000653053" "1" "50" "3" "10183685" "10183685" "subst" "5.8723E-5" "03575" "VHL_000612" "g.10183685G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs373068386}" "Germline" "" "rs373068386" "0" "" "" "g.10142001G>A" "" "VUS" "" "0000654751" "0" "30" "3" "10191621" "10191621" "subst" "3.2509E-5" "01943" "VHL_000616" "g.10191621G>A" "" "" "" "VHL(NM_000551.3):c.614G>A (p.R205H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.10149937G>A" "" "likely benign" "" "0000676776" "0" "10" "3" "10183876" "10183876" "subst" "0.0124389" "02327" "VHL_000081" "g.10183876G>C" "" "" "" "VHL(NM_000551.3):c.340+5G>C, VHL(NM_000551.4):c.340+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000719109" "0" "70" "3" "10183797" "10183797" "subst" "0" "02327" "VHL_000617" "g.10183797T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000719110" "0" "90" "3" "10183808" "10183808" "subst" "0" "02327" "VHL_000595" "g.10183808G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000719111" "0" "30" "3" "10183869" "10183869" "subst" "0" "01943" "VHL_000618" "g.10183869G>T" "" "" "" "VHL(NM_001354723.1):c.338G>T (p.R113L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000733011" "0" "70" "3" "10183823" "10183823" "subst" "1.35999E-5" "00000" "VHL_000620" "g.10183823T>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.10142139T>C" "" "likely pathogenic" "" "0000733012" "0" "70" "3" "10183823" "10183823" "subst" "1.35999E-5" "00000" "VHL_000620" "g.10183823T>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.10142139T>C" "" "likely pathogenic" "" "0000733013" "0" "70" "3" "10183764" "10183764" "subst" "0" "00000" "VHL_000556" "g.10183764A>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.10142080A>G" "" "likely pathogenic" "" "0000733014" "0" "70" "3" "10183720" "10183723" "del" "0" "00000" "VHL_000619" "g.10183720_10183723del" "" "{PMID:Stone 2017:28559085}" "" "189_192delGCGC" "" "Germline" "" "" "0" "" "" "g.10142036_10142039del" "" "likely pathogenic" "" "0000733015" "0" "70" "3" "10188245" "10188245" "subst" "0" "00000" "VHL_000615" "g.10188245G>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.10146561G>C" "" "likely pathogenic" "" "0000830287" "0" "90" "3" "10183784" "10183786" "delins" "0" "00006" "VHL_000621" "g.10183784_10183786delinsTTT" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10142100_10142102delinsTTT" "" "pathogenic (dominant)" "" "0000830288" "0" "70" "3" "10191489" "10191489" "subst" "0" "00006" "VHL_000622" "g.10191489G>C" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10149805G>C" "" "likely pathogenic (dominant)" "" "0000830289" "0" "90" "3" "10191599" "10191599" "del" "0" "00006" "VHL_000623" "g.10191599del" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10149915del" "" "pathogenic (dominant)" "" "0000830290" "0" "70" "3" "10183773" "10183773" "subst" "4.3958E-6" "00006" "VHL_000514" "g.10183773C>T" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10142089C>T" "" "likely pathogenic (dominant)" "" "0000830291" "0" "70" "3" "10183773" "10183773" "subst" "4.3958E-6" "00006" "VHL_000514" "g.10183773C>T" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10142089C>T" "" "likely pathogenic (dominant)" "" "0000830292" "0" "70" "3" "10183739" "10183739" "subst" "0" "00006" "VHL_000527" "g.10183739G>A" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10142055G>A" "" "likely pathogenic (dominant)" "" "0000830293" "0" "70" "3" "10191477" "10191477" "subst" "0" "00006" "VHL_000602" "g.10191477C>T" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10149793C>T" "" "likely pathogenic (dominant)" "" "0000830294" "0" "90" "3" "10191489" "10191489" "subst" "0" "00006" "VHL_000004" "g.10191489G>A" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10149805G>A" "" "pathogenic (dominant)" "" "0000830295" "0" "70" "3" "10191647" "10191647" "subst" "0" "00006" "VHL_000624" "g.10191647T>A" "" "{PMID:Kim 2021:33219105}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.10149963T>A" "" "likely pathogenic (dominant)" "" "0000850086" "0" "30" "3" "10188286" "10188286" "subst" "8.1213E-6" "02327" "VHL_000625" "g.10188286C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858741" "0" "30" "3" "10183772" "10183772" "subst" "0.000197625" "02327" "VHL_000576" "g.10183772C>T" "" "" "" "VHL(NM_000551.3):c.241C>T (p.P81S), VHL(NM_000551.4):c.241C>T (p.P81S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858742" "0" "50" "3" "10188286" "10188286" "subst" "0" "02327" "VHL_000626" "g.10188286C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858743" "0" "70" "3" "10191563" "10191563" "subst" "1.62442E-5" "01804" "VHL_000627" "g.10191563G>A" "" "" "" "VHL(NM_000551.3):c.556G>A (p.(Glu186Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000874596" "0" "50" "3" "10183682" "10183682" "subst" "0" "03779" "VHL_000628" "g.10183682G>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000885470" "0" "30" "3" "10183772" "10183772" "subst" "0.000197625" "02329" "VHL_000576" "g.10183772C>T" "" "" "" "VHL(NM_000551.3):c.241C>T (p.P81S), VHL(NM_000551.4):c.241C>T (p.P81S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923807" "0" "30" "3" "10183714" "10183714" "subst" "0.000998552" "02329" "VHL_000573" "g.10183714C>G" "" "" "" "VHL(NM_000551.3):c.183C>G (p.P61=), VHL(NM_000551.4):c.183C>G (p.P61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923808" "0" "90" "3" "10191605" "10191605" "subst" "0.000219339" "02326" "VHL_000001" "g.10191605C>T" "" "" "" "VHL(NM_000551.3):c.598C>T (p.R200W), VHL(NM_000551.4):c.598C>T (p.R200W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000928672" "0" "30" "3" "10183606" "10183606" "subst" "0" "02327" "VHL_000629" "g.10183606T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928673" "0" "30" "3" "10184562" "10184562" "subst" "0" "02327" "VHL_000630" "g.10184562C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947984" "0" "10" "3" "10184519" "10184519" "subst" "0" "02327" "VHL_000631" "g.10184519T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000962387" "0" "10" "3" "10184255" "10184255" "subst" "0" "02326" "VHL_000632" "g.10184255G>A" "" "" "" "VHL(NM_000551.3):c.340+384G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000962388" "0" "30" "3" "10187982" "10187982" "subst" "0" "02326" "VHL_000633" "g.10187982C>T" "" "" "" "VHL(NM_000551.3):c.341-216C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975488" "0" "50" "3" "10183534" "10183534" "subst" "6.01639E-5" "01804" "VHL_000517" "g.10183534G>A" "" "" "" "VHL(NM_000551.3):c.3G>A (p.M1?), VHL(NM_000551.4):c.3G>A (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990031" "0" "70" "3" "10191585" "10191585" "dup" "0" "03544" "VHL_000634" "g.10191585dup" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.10149901dup" "" "likely pathogenic" "ACMG" "0000993112" "0" "10" "3" "10183605" "10183605" "subst" "0.00305923" "01804" "VHL_000330" "g.10183605C>T" "" "" "" "VHL(NM_000551.3):c.74C>T (p.P25L, p.(Pro25Leu)), VHL(NM_000551.4):c.74C>T (p.P25L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000993113" "0" "30" "3" "10184449" "10184449" "subst" "0" "02327" "VHL_000635" "g.10184449C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013794" "0" "50" "3" "10188265" "10188265" "subst" "4.06055E-6" "01804" "VHL_000568" "g.10188265T>G" "" "" "" "VHL(NM_000551.3):c.408T>G (p.(Phe136Leu)), VHL(NM_000551.4):c.408T>G (p.F136L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024696" "0" "30" "3" "10183601" "10183601" "subst" "0" "02327" "VHL_000636" "g.10183601G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024697" "0" "10" "3" "10183681" "10183681" "subst" "0.000452984" "02327" "VHL_000520" "g.10183681C>G" "" "" "" "VHL(NM_000551.3):c.150C>G (p.A50=), VHL(NM_000551.4):c.150C>G (p.A50=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001024698" "0" "90" "3" "10183789" "10183789" "del" "0" "02327" "VHL_000637" "g.10183789del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001047223" "0" "30" "3" "10184042" "10184045" "del" "0" "03779" "VHL_000638" "g.10184042_10184045del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0001047224" "0" "30" "3" "10188363" "10188363" "subst" "0.0121197" "03779" "VHL_000512" "g.10188363A>G" "" "" "" "" "" "Unknown" "" "rs34661876" "0" "" "" "" "" "likely benign" "" "0001047225" "0" "30" "3" "10188363" "10188363" "subst" "0.0121197" "03779" "VHL_000512" "g.10188363A>G" "" "" "" "" "" "Unknown" "" "rs34661876" "0" "" "" "" "" "likely benign" "" "0001047420" "0" "90" "3" "10191605" "10191605" "subst" "0.000219339" "03779" "VHL_000001" "g.10191605C>T" "" "" "" "" "" "Unknown" "" "rs28940298" "0" "" "" "" "" "pathogenic" "" "0001048023" "0" "30" "3" "10184045" "10184045" "del" "0" "03779" "VHL_000639" "g.10184045del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0001048423" "0" "30" "3" "10191559" "10191559" "subst" "1.21833E-5" "03779" "VHL_000640" "g.10191559C>T" "" "" "" "" "" "Unknown" "" "rs779157605" "0" "" "" "" "" "likely benign" "" "0001048792" "0" "30" "3" "10183650" "10183650" "subst" "0.000279107" "03779" "VHL_000641" "g.10183650C>T" "" "" "" "" "" "Unknown" "" "rs200343185" "0" "" "" "" "" "likely benign" "" "0001048793" "0" "30" "3" "10183744" "10183744" "subst" "0.000236113" "03779" "VHL_000642" "g.10183744C>T" "" "" "" "" "" "Unknown" "" "rs201663073" "0" "" "" "" "" "likely benign" "" "0001048794" "0" "30" "3" "10190209" "10190209" "subst" "0" "03779" "VHL_000643" "g.10190209G>A" "" "" "" "" "" "Unknown" "" "rs271992" "0" "" "" "" "" "likely benign" "" "0001048795" "0" "30" "3" "10190380" "10190380" "del" "0" "03779" "VHL_000645" "g.10190380del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0001048986" "0" "30" "3" "10190379" "10190380" "dup" "0" "03779" "VHL_000644" "g.10190379_10190380dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely benign" "" "0001049415" "0" "90" "3" "10183824" "10183824" "subst" "0" "03779" "VHL_000528" "g.10183824A>G" "" "" "" "" "" "Unknown" "" "rs864321643" "0" "" "" "" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes VHL ## Count = 205 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000064522" "00022600" "10" "463" "8" "463" "8" "c.463+8C>T" "r.(=)" "p.(=)" "2i" "0000064523" "00022600" "10" "463" "43" "463" "43" "c.463+43A>G" "r.(=)" "p.(=)" "2i" "0000064524" "00022600" "10" "74" "0" "74" "0" "c.74C>T" "r.(?)" "p.(Pro25Leu)" "1" "0000064525" "00022600" "90" "227" "0" "229" "0" "c.227_229del" "r.(?)" "p.(Phe76del)" "1" "0000064526" "00022600" "90" "482" "0" "482" "0" "c.482G>A" "r.(?)" "p.(Arg161Gln)" "2i" "0000064527" "00022600" "90" "463" "3" "463" "3" "c.463+3A>G" "r.spl?" "p.?" "2i" "0000064528" "00022600" "50" "242" "0" "242" "0" "c.242C>T" "r.(?)" "p.(Pro81Leu)" "1" "0000064529" "00022600" "10" "340" "5" "340" "5" "c.340+5G>C" "r.spl?" "p.?" "1" "0000064530" "00022600" "50" "169" "0" "169" "0" "c.169G>C" "r.(?)" "p.(Gly57Arg)" "1" "0000064531" "00022600" "90" "500" "0" "500" "0" "c.500G>A" "r.(?)" "p.(Arg167Gln)" "3i" "0000064532" "00022600" "90" "393" "0" "393" "0" "c.393C>A" "r.(?)" "p.(Asn131Lys)" "2" "0000117712" "00022600" "90" "162" "0" "162" "0" "c.162G>C" "r.(?)" "p.(Met54Ile)" "1" "0000117713" "00022600" "99" "598" "0" "598" "0" "c.598C>T" "r.(?)" "p.(Arg200Trp)" "3" "0000117714" "00022600" "99" "598" "0" "598" "0" "c.598C>T" "r.(?)" "p.(Arg200Trp)" "3" "0000117715" "00022600" "90" "162" "0" "162" "0" "c.162G>C" "r.(?)" "p.(Met54Ile)" "1" "0000250833" "00022600" "90" "358" "0" "358" "0" "c.358A>G" "r.(?)" "p.(Arg120Gly)" "" "0000250837" "00022600" "90" "463" "3" "463" "3" "c.463+3A>G" "r.spl?" "p.?" "" "0000252448" "00022600" "70" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(Tyr98Cys)" "" "0000252466" "00022600" "90" "462" "0" "462" "0" "c.462A>C" "r.(?)" "p.(Pro154=)" "" "0000252593" "00022600" "90" "467" "0" "467" "0" "c.467A>G" "r.(?)" "p.(Tyr156Cys)" "" "0000252646" "00022600" "50" "366" "0" "366" "0" "c.366A>G" "r.(?)" "p.(Ala122=)" "" "0000255213" "00022600" "30" "-5" "0" "-5" "0" "c.-5A>C" "r.(?)" "p.(=)" "" "0000255388" "00022600" "90" "358" "0" "358" "0" "c.358A>G" "r.(?)" "p.(Arg120Gly)" "" "0000255392" "00022600" "90" "463" "3" "463" "3" "c.463+3A>G" "r.spl?" "p.?" "" "0000255576" "00022600" "90" "233" "0" "233" "0" "c.233A>G" "r.(?)" "p.(Asn78Ser)" "" "0000255623" "00022600" "90" "454" "0" "454" "0" "c.454A>C" "r.(?)" "p.(Thr152Pro)" "" "0000312994" "00022600" "30" "168" "0" "168" "0" "c.168C>T" "r.(?)" "p.(Ala56=)" "" "0000312995" "00022600" "50" "408" "0" "408" "0" "c.408T>G" "r.(?)" "p.(Phe136Leu)" "" "0000312996" "00022600" "30" "463" "8" "463" "8" "c.463+8C>T" "r.(=)" "p.(=)" "" "0000312997" "00022600" "90" "598" "0" "598" "0" "c.598C>T" "r.(?)" "p.(Arg200Trp)" "" "0000312998" "00022600" "30" "74" "0" "74" "0" "c.74C>T" "r.(?)" "p.(Pro25Leu)" "" "0000313641" "00022600" "30" "341" "-5" "341" "-5" "c.341-5G>A" "r.spl?" "p.?" "" "0000313642" "00022600" "30" "34" "0" "34" "0" "c.34G>A" "r.(?)" "p.(Glu12Lys)" "" "0000313643" "00022600" "30" "463" "8" "463" "8" "c.463+8C>T" "r.(=)" "p.(=)" "" "0000313644" "00022600" "30" "74" "0" "74" "0" "c.74C>T" "r.(?)" "p.(Pro25Leu)" "" "0000315274" "00022600" "30" "126" "0" "126" "0" "c.126G>C" "r.(?)" "p.(Glu42Asp)" "" "0000315275" "00022600" "30" "150" "0" "150" "0" "c.150C>G" "r.(?)" "p.(Ala50=)" "" "0000315276" "00022600" "50" "162" "0" "162" "0" "c.162G>C" "r.(?)" "p.(Met54Ile)" "" "0000315277" "00022600" "90" "194" "0" "194" "0" "c.194C>G" "r.(?)" "p.(Ser65Trp)" "" "0000315278" "00022600" "90" "194" "0" "194" "0" "c.194C>T" "r.(?)" "p.(Ser65Leu)" "" "0000315279" "00022600" "70" "202" "0" "202" "0" "c.202T>C" "r.(?)" "p.(Ser68Pro)" "" "0000315280" "00022600" "90" "208" "0" "208" "0" "c.208G>A" "r.(?)" "p.(Glu70Lys)" "" "0000315282" "00022600" "90" "264" "0" "264" "0" "c.264G>T" "r.(?)" "p.(Trp88Cys)" "" "0000315283" "00022600" "90" "340" "1" "340" "1" "c.340+1G>A" "r.spl?" "p.?" "" "0000315284" "00022600" "30" "340" "5" "340" "5" "c.340+5G>C" "r.spl?" "p.?" "" "0000315285" "00022600" "90" "353" "0" "353" "0" "c.353T>C" "r.(?)" "p.(Leu118Pro)" "" "0000315286" "00022600" "90" "376" "0" "376" "0" "c.376G>A" "r.(?)" "p.(Asp126Asn)" "" "0000315287" "00022600" "70" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "" "0000315288" "00022600" "50" "452" "0" "452" "0" "c.452T>C" "r.(?)" "p.(Ile151Thr)" "" "0000315289" "00022600" "10" "463" "108" "463" "108" "c.463+108T>G" "r.(=)" "p.(=)" "" "0000315290" "00022600" "30" "463" "8" "463" "8" "c.463+8C>T" "r.(=)" "p.(=)" "" "0000315291" "00022600" "50" "482" "0" "482" "0" "c.482G>A" "r.(?)" "p.(Arg161Gln)" "" "0000315292" "00022600" "90" "486" "0" "486" "0" "c.486C>A" "r.(?)" "p.(Cys162Ter)" "" "0000315293" "00022600" "90" "499" "0" "499" "0" "c.499C>T" "r.(?)" "p.(Arg167Trp)" "" "0000315294" "00022600" "90" "500" "0" "500" "0" "c.500G>A" "r.(?)" "p.(Arg167Gln)" "" "0000315295" "00022600" "90" "509" "0" "509" "0" "c.509T>A" "r.(?)" "p.(Val170Asp)" "" "0000315296" "00022600" "50" "585" "0" "585" "0" "c.585G>A" "r.(?)" "p.(Gln195=)" "" "0000315297" "00022600" "10" "74" "0" "74" "0" "c.74C>T" "r.(?)" "p.(Pro25Leu)" "" "0000319576" "00022600" "90" "191" "0" "191" "0" "c.191G>C" "r.(?)" "p.(Arg64Pro)" "" "0000319577" "00022600" "90" "193" "0" "193" "0" "c.193T>C" "r.(?)" "p.(Ser65Pro)" "" "0000319578" "00022600" "90" "194" "0" "194" "0" "c.194C>G" "r.(?)" "p.(Ser65Trp)" "" "0000319579" "00022600" "90" "227" "0" "229" "0" "c.227_229del" "r.(?)" "p.(Phe76del)" "" "0000319580" "00022600" "90" "266" "0" "266" "0" "c.266T>C" "r.(?)" "p.(Leu89Pro)" "" "0000319581" "00022600" "90" "332" "0" "332" "0" "c.332G>A" "r.(?)" "p.(Ser111Asn)" "" "0000319582" "00022600" "90" "340" "299" "340" "299" "c.340+299del" "r.(=)" "p.(=)" "" "0000319583" "00022600" "10" "340" "5" "340" "5" "c.340+5G>C" "r.spl?" "p.?" "" "0000319584" "00022600" "90" "349" "0" "349" "0" "c.349T>C" "r.(?)" "p.(Trp117Arg)" "" "0000319585" "00022600" "90" "388" "0" "388" "0" "c.388G>T" "r.(?)" "p.(Val130Phe)" "" "0000319586" "00022600" "50" "453" "0" "453" "0" "c.453C>G" "r.(?)" "p.(Ile151Met)" "" "0000319587" "00022600" "10" "463" "37" "463" "39" "c.463+37_463+39del" "r.(=)" "p.(=)" "" "0000319588" "00022600" "30" "463" "8" "463" "8" "c.463+8C>T" "r.(=)" "p.(=)" "" "0000319589" "00022600" "90" "464" "-11" "464" "-11" "c.464-11T>A" "r.(=)" "p.(=)" "" "0000319591" "00022600" "90" "486" "0" "486" "0" "c.486C>G" "r.(?)" "p.(Cys162Trp)" "" "0000319592" "00022600" "90" "500" "0" "500" "0" "c.500G>A" "r.(?)" "p.(Arg167Gln)" "" "0000319594" "00022600" "90" "509" "0" "509" "0" "c.509T>A" "r.(?)" "p.(Val170Asp)" "" "0000319595" "00022600" "90" "598" "0" "598" "0" "c.598C>T" "r.(?)" "p.(Arg200Trp)" "" "0000319596" "00022600" "10" "74" "0" "74" "0" "c.74C>T" "r.(?)" "p.(Pro25Leu)" "" "0000336881" "00022600" "10" "-77" "0" "-77" "0" "c.-77C>T" "r.(?)" "p.(=)" "" "0000336883" "00022600" "90" "340" "1" "340" "1" "c.340+1G>A" "r.spl?" "p.?" "" "0000336884" "00022600" "10" "341" "-37" "341" "-37" "c.341-37G>A" "r.(=)" "p.(=)" "" "0000336885" "00022600" "30" "463" "8" "463" "8" "c.463+8C>T" "r.(=)" "p.(=)" "" "0000339043" "00022600" "90" "393" "0" "393" "0" "c.393C>A" "r.(?)" "p.(Asn131Lys)" "" "0000341702" "00022600" "70" "320" "0" "320" "0" "c.320G>C" "r.(?)" "p.(Arg107Pro)" "" "0000342048" "00022600" "90" "500" "0" "500" "0" "c.500G>A" "r.(?)" "p.(Arg167Gln)" "" "0000344286" "00022600" "90" "485" "0" "485" "0" "c.485G>T" "r.(?)" "p.(Cys162Phe)" "" "0000344645" "00022600" "90" "607" "0" "608" "0" "c.607_608del" "r.(?)" "p.(Gln203GlyfsTer52)" "" "0000345114" "00022600" "90" "400" "0" "400" "0" "c.400G>T" "r.(?)" "p.(Glu134Ter)" "" "0000346921" "00022600" "90" "472" "0" "472" "0" "c.472C>G" "r.(?)" "p.(Leu158Val)" "" "0000348327" "00022600" "10" "74" "0" "74" "0" "c.74C>T" "r.(?)" "p.(Pro25Leu)" "" "0000350802" "00022600" "90" "502" "0" "503" "0" "c.502_503insTTGTCCGT" "r.(?)" "p.(Ser168IlefsTer5)" "" "0000369313" "00022600" "90" "399" "0" "400" "0" "c.399_400del" "r.(?)" "p.(Glu134Ilefs*9)" "" "0000517342" "00022600" "30" "168" "0" "168" "0" "c.168C>G" "r.(?)" "p.(Ala56=)" "" "0000517343" "00022600" "30" "183" "0" "183" "0" "c.183C>G" "r.(?)" "p.(Pro61=)" "" "0000517344" "00022600" "30" "183" "0" "183" "0" "c.183C>G" "r.(?)" "p.(Pro61=)" "" "0000517345" "00022600" "50" "232" "0" "232" "0" "c.232A>G" "r.(?)" "p.(Asn78Asp)" "" "0000517346" "00022600" "90" "240" "0" "240" "0" "c.240T>G" "r.(?)" "p.(Ser80Arg)" "" "0000517347" "00022600" "30" "241" "0" "241" "0" "c.241C>T" "r.(?)" "p.(Pro81Ser)" "" "0000517348" "00022600" "30" "241" "0" "241" "0" "c.241C>T" "r.(?)" "p.(Pro81Ser)" "" "0000517349" "00022600" "90" "250" "0" "250" "0" "c.250G>C" "r.(?)" "p.(Val84Leu)" "" "0000517350" "00022600" "70" "256" "0" "256" "0" "c.256C>A" "r.(?)" "p.(Pro86Thr)" "" "0000517351" "00022600" "90" "259" "0" "260" "0" "c.259_260insA" "r.(?)" "p.(Val87AspfsTer45)" "" "0000517352" "00022600" "90" "269" "0" "269" "0" "c.269A>T" "r.(?)" "p.(Asn90Ile)" "" "0000517353" "00022600" "90" "345" "0" "345" "0" "c.345C>G" "r.(?)" "p.(His115Gln)" "" "0000517354" "00022600" "50" "345" "0" "345" "0" "c.345C>G" "r.(?)" "p.(His115Gln)" "" "0000517355" "00022600" "90" "353" "0" "353" "0" "c.353T>C" "r.(?)" "p.(Leu118Pro)" "" "0000517356" "00022600" "90" "452" "0" "452" "0" "c.452T>G" "r.(?)" "p.(Ile151Ser)" "" "0000517357" "00022600" "90" "473" "0" "473" "0" "c.473dup" "r.(?)" "p.(Lys159GlufsTer15)" "" "0000517358" "00022600" "90" "497" "0" "497" "0" "c.497T>C" "r.(?)" "p.(Val166Ala)" "" "0000517359" "00022600" "90" "497" "0" "497" "0" "c.497T>C" "r.(?)" "p.(Val166Ala)" "" "0000517360" "00022600" "90" "501" "0" "502" "0" "c.501_502insTTGTCCGT" "r.(?)" "p.(Ser168LeufsTer5)" "" "0000517361" "00022600" "70" "598" "0" "598" "0" "c.598C>T" "r.(?)" "p.(Arg200Trp)" "" "0000579834" "00022600" "70" "408" "0" "408" "0" "c.408T>G" "r.(?)" "p.(Phe136Leu)" "" "0000599127" "00022600" "90" "194" "0" "194" "0" "c.194C>A" "r.(?)" "p.(Ser65*)" "1" "0000599128" "00022600" "50" "4" "0" "4" "0" "c.4C>T" "r.(?)" "p.(Pro2Ser)" "1" "0000599129" "00022600" "90" "194" "0" "194" "0" "c.194C>A" "r.(?)" "p.(Ser65*)" "1" "0000599130" "00022600" "10" "-258" "0" "-258" "0" "c.-258C>T" "-" "-" "1" "0000599131" "00022600" "10" "-195" "0" "-195" "0" "c.-195G>A" "r.(?)" "p.(=)" "1" "0000599132" "00022600" "10" "463" "108" "463" "108" "c.463+108T>G" "r.(?)" "p.(=)" "2i" "0000599137" "00022600" "90" "361" "0" "361" "0" "c.361del" "r.(?)" "p.(Asp121Metfs*38)" "2" "0000599139" "00022600" "90" "413" "0" "413" "0" "c.413C>G" "r.(?)" "p.(Pro138Arg)" "2" "0000599140" "00022600" "90" "481" "0" "481" "0" "c.481C>T" "r.(?)" "p.(Arg161*)" "3" "0000599142" "00022600" "90" "263" "0" "263" "0" "c.263G>A" "r.(?)" "p.(Trp88*)" "1" "0000599143" "00022600" "90" "473" "0" "473" "0" "c.473T>C" "r.(?)" "p.(Leu158Pro)" "3" "0000599144" "00022600" "90" "430" "0" "430" "0" "c.430G>T" "r.(?)" "p.(Gly144*)" "2" "0000599145" "00022600" "90" "217" "0" "217" "0" "c.217C>T" "r.(?)" "p.(Gln73*)" "1" "0000599146" "00022600" "90" "470" "0" "470" "0" "c.470C>T" "r.(?)" "p.(Thr157Ile)" "3" "0000599147" "00022600" "90" "217" "0" "217" "0" "c.217dup" "r.(?)" "p.(Gln73Profs*59)" "1" "0000599148" "00022600" "90" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Pro86Ser)" "1" "0000599150" "00022600" "90" "250" "0" "250" "0" "c.250G>T" "r.(?)" "p.(Val84Leu)" "1" "0000599151" "00022600" "90" "486" "0" "486" "0" "c.486C>G" "r.(?)" "p.(Cys162Trp)" "3" "0000599152" "00022600" "90" "482" "0" "482" "0" "c.482G>A" "r.(?)" "p.(Arg161Gln)" "3" "0000599153" "00022600" "90" "500" "0" "500" "0" "c.500G>A" "r.(?)" "p.(Arg167Gln)" "3" "0000599157" "00022600" "90" "575" "0" "575" "0" "c.575C>T" "r.(?)" "p.(Pro192Leu)" "3" "0000599158" "00022600" "90" "488" "0" "488" "0" "c.488T>G" "r.(?)" "p.(Leu163Arg)" "3" "0000599160" "00022600" "90" "599" "0" "599" "0" "c.599G>C" "r.(?)" "p.(Arg200Pro)" "3" "0000599161" "00022600" "90" "277" "0" "277" "0" "c.277G>A" "r.(?)" "p.(Gly93Ser)" "1" "0000599162" "00022600" "70" "371" "0" "371" "0" "c.371C>T" "r.(?)" "p.(Thr124Ile)" "2" "0000599163" "00022600" "90" "343" "0" "395" "0" "c.343_395dup" "r.(?)" "p.(Gln132Hisfs*45)" "2" "0000599164" "00022600" "90" "499" "0" "499" "0" "c.499C>T" "r.(?)" "p.(Arg167Trp)" "3" "0000599165" "00022600" "90" "319" "0" "319" "0" "c.319C>G" "r.(?)" "p.(Arg107Gly)" "1" "0000602985" "00022600" "70" "245" "0" "245" "0" "c.245G>C" "r.(?)" "p.(Arg82Pro)" "" "0000608190" "00022600" "30" "6" "0" "6" "0" "c.6C>A" "r.(?)" "p.(Pro2=)" "" "0000608191" "00022600" "70" "98" "0" "98" "0" "c.98C>A" "r.(?)" "p.(Ser33Ter)" "" "0000608192" "00022600" "50" "104" "0" "104" "0" "c.104C>A" "r.(?)" "p.(Ala35Asp)" "" "0000608193" "00022600" "30" "154" "0" "154" "0" "c.154G>A" "r.(?)" "p.(Glu52Lys)" "" "0000608194" "00022600" "30" "183" "0" "183" "0" "c.183C>G" "r.(?)" "p.(Pro61=)" "" "0000608195" "00022600" "10" "340" "5" "340" "5" "c.340+5G>C" "r.spl?" "p.?" "" "0000608196" "00022600" "70" "453" "0" "453" "0" "c.453C>G" "r.(?)" "p.(Ile151Met)" "" "0000621148" "00022600" "30" "150" "0" "150" "0" "c.150C>G" "r.(?)" "p.(Ala50=)" "" "0000651035" "00022600" "70" "192" "0" "192" "0" "c.192del" "r.(?)" "p.(Ser65Argfs*2)" "" "0000651036" "00022600" "90" "351" "0" "351" "0" "c.351G>T" "r.(?)" "p.(Trp117Cys)" "" "0000651037" "00022600" "90" "388" "0" "388" "0" "c.388G>C" "r.(?)" "p.(Val130Leu)" "" "0000653053" "00022600" "50" "154" "0" "154" "0" "c.154G>A" "r.(?)" "p.(Glu52Lys)" "" "0000654751" "00022600" "30" "614" "0" "614" "0" "c.614G>A" "r.(?)" "p.(Arg205His)" "" "0000676776" "00022600" "10" "340" "5" "340" "5" "c.340+5G>C" "r.spl?" "p.?" "" "0000719109" "00022600" "70" "266" "0" "266" "0" "c.266T>A" "r.(?)" "p.(Leu89His)" "" "0000719110" "00022600" "90" "277" "0" "277" "0" "c.277G>A" "r.(?)" "p.(Gly93Ser)" "" "0000719111" "00022600" "30" "338" "0" "338" "0" "c.338G>T" "r.(?)" "p.(Arg113Leu)" "" "0000733011" "00022600" "70" "292" "0" "292" "0" "c.292T>C" "r.(?)" "p.(Tyr98His)" "" "0000733012" "00022600" "70" "292" "0" "292" "0" "c.292T>C" "r.(?)" "p.(Tyr98His)" "" "0000733013" "00022600" "70" "233" "0" "233" "0" "c.233A>G" "r.(?)" "p.(Asn78Ser)" "" "0000733014" "00022600" "70" "189" "0" "192" "0" "c.189_192del" "r.(?)" "p.(Ser65*)" "" "0000733015" "00022600" "70" "388" "0" "388" "0" "c.388G>C" "r.(?)" "p.(Val130Leu)" "" "0000830287" "00022600" "90" "253" "0" "255" "0" "c.253_255delinsTTT" "r.(?)" "p.(Leu85Phe)" "" "0000830288" "00022600" "70" "482" "0" "482" "0" "c.482G>C" "r.(?)" "p.(Arg161Pro)" "" "0000830289" "00022600" "90" "592" "0" "592" "0" "c.592del" "r.(?)" "p.(Leu198TrpfsTer4)" "" "0000830290" "00022600" "70" "242" "0" "242" "0" "c.242C>T" "r.(?)" "p.(Pro81Leu)" "" "0000830291" "00022600" "70" "242" "0" "242" "0" "c.242C>T" "r.(?)" "p.(Pro81Leu)" "" "0000830292" "00022600" "70" "208" "0" "208" "0" "c.208G>A" "r.(?)" "p.(Glu70Lys)" "" "0000830293" "00022600" "70" "470" "0" "470" "0" "c.470C>T" "r.(?)" "p.(Thr157Ile)" "" "0000830294" "00022600" "90" "482" "0" "482" "0" "c.482G>A" "r.(?)" "p.(Arg161Gln)" "" "0000830295" "00022600" "70" "640" "0" "640" "0" "c.640T>A" "r.(?)" "p.(Ter214ArgextTer14)" "" "0000850086" "00022600" "30" "429" "0" "429" "0" "c.429C>T" "r.(?)" "p.(Asp143=)" "" "0000858741" "00022600" "30" "241" "0" "241" "0" "c.241C>T" "r.(?)" "p.(Pro81Ser)" "" "0000858742" "00022600" "50" "429" "0" "429" "0" "c.429C>G" "r.(?)" "p.(Asp143Glu)" "" "0000858743" "00022600" "70" "556" "0" "556" "0" "c.556G>A" "r.(?)" "p.(Glu186Lys)" "" "0000874596" "00022600" "50" "151" "0" "151" "0" "c.151G>C" "r.(?)" "p.(Glu51Gln)" "" "0000885470" "00022600" "30" "241" "0" "241" "0" "c.241C>T" "r.(?)" "p.(Pro81Ser)" "" "0000923807" "00022600" "30" "183" "0" "183" "0" "c.183C>G" "r.(?)" "p.(Pro61=)" "" "0000923808" "00022600" "90" "598" "0" "598" "0" "c.598C>T" "r.(?)" "p.(Arg200Trp)" "" "0000928672" "00022600" "30" "75" "0" "75" "0" "c.75T>C" "r.(?)" "p.(=)" "" "0000928673" "00022600" "30" "340" "691" "340" "691" "c.340+691C>G" "r.(=)" "p.(=)" "" "0000947984" "00022600" "10" "340" "648" "340" "648" "c.340+648T>C" "r.(=)" "p.(=)" "" "0000962387" "00022600" "10" "340" "384" "340" "384" "c.340+384G>A" "r.(=)" "p.(=)" "" "0000962388" "00022600" "30" "341" "-216" "341" "-216" "c.341-216C>T" "r.(=)" "p.(=)" "" "0000975488" "00022600" "50" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "" "0000990031" "00022600" "70" "578" "0" "578" "0" "c.578dup" "r.(?)" "p.(Asn193Lysfs*63)" "3" "0000993112" "00022600" "10" "74" "0" "74" "0" "c.74C>T" "r.(?)" "p.(Pro25Leu)" "" "0000993113" "00022600" "30" "340" "578" "340" "578" "c.340+578C>T" "r.(=)" "p.(=)" "" "0001013794" "00022600" "50" "408" "0" "408" "0" "c.408T>G" "r.(?)" "p.(Phe136Leu)" "" "0001024696" "00022600" "30" "70" "0" "70" "0" "c.70G>A" "r.(?)" "p.(Gly24Ser)" "" "0001024697" "00022600" "10" "150" "0" "150" "0" "c.150C>G" "r.(?)" "p.(Ala50=)" "" "0001024698" "00022600" "90" "258" "0" "258" "0" "c.258del" "r.(?)" "p.(Val87Tyrfs*72)" "" "0001047223" "00022600" "30" "340" "171" "340" "174" "c.340+171_340+174del" "r.(?)" "p.(?)" "" "0001047224" "00022600" "30" "463" "43" "463" "43" "c.463+43A>G" "r.(?)" "p.(?)" "" "0001047225" "00022600" "30" "463" "43" "463" "43" "c.463+43A>G" "r.(?)" "p.(?)" "" "0001047420" "00022600" "90" "598" "0" "598" "0" "c.598C>T" "r.(?)" "p.(Arg200Trp)" "" "0001048023" "00022600" "30" "340" "174" "340" "174" "c.340+174del" "r.(?)" "p.(?)" "" "0001048423" "00022600" "30" "552" "0" "552" "0" "c.552C>T" "r.(?)" "p.(Leu184=)" "" "0001048792" "00022600" "30" "119" "0" "119" "0" "c.119C>T" "r.(?)" "p.(Pro40Leu)" "" "0001048793" "00022600" "30" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(Pro71=)" "" "0001048794" "00022600" "30" "464" "-1262" "464" "-1262" "c.464-1262G>A" "r.(?)" "p.(?)" "" "0001048795" "00022600" "30" "464" "-1091" "464" "-1091" "c.464-1091del" "r.(?)" "p.(?)" "" "0001048986" "00022600" "30" "464" "-1092" "464" "-1091" "c.464-1092_464-1091dup" "r.(?)" "p.(?)" "" "0001049415" "00022600" "90" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(Tyr98Cys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 65 "{{screeningid}}" "{{variantid}}" "0000037397" "0000064522" "0000037398" "0000064523" "0000037399" "0000064524" "0000037400" "0000064525" "0000037401" "0000064526" "0000037402" "0000064527" "0000037403" "0000064528" "0000037404" "0000064529" "0000037405" "0000064530" "0000037406" "0000064531" "0000037407" "0000064532" "0000073919" "0000117712" "0000073919" "0000117715" "0000073920" "0000117713" "0000073920" "0000117714" "0000165588" "0000369313" "0000250534" "0000579834" "0000267605" "0000599127" "0000267605" "0000599128" "0000267608" "0000599129" "0000267608" "0000599130" "0000267608" "0000599131" "0000267608" "0000599132" "0000267614" "0000599137" "0000267616" "0000599139" "0000267617" "0000599140" "0000267619" "0000599142" "0000267620" "0000599143" "0000267621" "0000599144" "0000267622" "0000599145" "0000267623" "0000599146" "0000267624" "0000599147" "0000267625" "0000599148" "0000267627" "0000599150" "0000267628" "0000599151" "0000267629" "0000599152" "0000267630" "0000599153" "0000267634" "0000599157" "0000267635" "0000599158" "0000267637" "0000599160" "0000267638" "0000599161" "0000267639" "0000599162" "0000267640" "0000599163" "0000267641" "0000599164" "0000267642" "0000599165" "0000270247" "0000602985" "0000294346" "0000651035" "0000294347" "0000651036" "0000294348" "0000651037" "0000296364" "0000653053" "0000335004" "0000733011" "0000335005" "0000733012" "0000335006" "0000733013" "0000335007" "0000733014" "0000335008" "0000733015" "0000398079" "0000830287" "0000398080" "0000830288" "0000398081" "0000830289" "0000398082" "0000830290" "0000398083" "0000830291" "0000398084" "0000830292" "0000398085" "0000830293" "0000398086" "0000830294" "0000398087" "0000830295" "0000455055" "0000990031"