### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = VCP) # 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}}" "VCP" "valosin containing protein" "9" "p13" "unknown" "NG_007887.1" "UD_132118305789" "" "https://www.LOVD.nl/VCP" "" "1" "12666" "7415" "601023" "1" "1" "1" "1" "This database is one of the gene variant databases from the \"Leiden Muscular Dystrophy pages\" (LMDp)." "" "g" "https://databases.lovd.nl/shared/refseq/VCP_codingDNA.html" "1" "" "This database is one of the gene variant databases from the \"Leiden Muscular Dystrophy pages\" (LMDp)." "-1" "" "-1" "00001" "2010-03-01 00:00:00" "00006" "2019-01-19 16:58:41" "00000" "2025-11-01 13:22:20" ## 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}}" "00022574" "VCP" "valosin containing protein" "001" "NM_007126.3" "" "NP_009057.1" "" "" "" "-389" "3470" "2421" "35072739" "35056065" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00096" "FTD" "dementia, frontotemporal (FTD)" "AD" "600274" "" "" "" "00008" "2012-12-10 14:01:50" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00204" "AD" "Alzheimer disease (AD)" "AD" "104300" "" "" "" "00006" "2013-09-24 20:52:38" "00006" "2021-12-10 21:51:32" "00218" "IBMPFD1" "myopathy, inclusion body, with early-onset Paget disease and frontotemporal dementia, type 1" "AD" "167320" "" "" "" "00008" "2013-10-02 11:35:03" "00006" "2023-11-03 18:38:39" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "03493" "FTDALS6;ALS14" "dementia, frontotemporal, and/or amyotrophic lateral sclerosis, type 6 (ALS14)" "AD" "613954" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-11-03 18:37:00" "04255" "ALS" "sclerosis, lateral, amyotrophic (ALS)" "" "" "" "" "" "00015" "2015-05-08 11:45:27" "00006" "2015-12-08 23:53:05" "05105" "IBM" "myopathy, inclusion body (IBM)" "" "" "" "" "" "00006" "2015-12-08 01:36:43" "" "" "05106" "MPD" "myopathy, distal (MPD)" "" "" "" "" "" "00006" "2015-12-08 01:43:19" "" "" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05618" "NMD" "neuromuscular disorder (NMD)" "" "" "" "" "" "00006" "2019-07-02 19:46:12" "" "" "06808" "CMT2Y" "Charcot-Marie-Tooth disease, type 2Y" "AD" "616687" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "VCP" "00218" "VCP" "03493" "VCP" "06808" ## Individuals ## Do not remove or alter this header ## ## Count = 111 "{{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}}" "00003018" "" "" "" "1" "" "00130" "{PMID:Neveling 2013:24123792}, {PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "M" "" "" "" "0" "" "" "" "Pat10mov;Pat19" "00078544" "" "" "" "1" "" "01604" "{PMID:Hirano 2015:25457024}, {DOI:Hirano 2015:10.1016/j.neurobiolaging.2014.10.012}" "older brother with dementia" "M" "" "Japan" ">72y" "0" "" "" "Japanese" "25457024-FamPat1" "00105225" "" "" "" "1" "" "01257" "" "" "" "" "" "" "0" "" "" "" "" "00146423" "" "" "" "29" "" "00006" "{PMID:Watts 2004:15034582}, {OMIM601023:0001}" "6-generation family, 29 affecteds" "" "" "United States" "" "0" "" "" "Europe" "15034582-Fam1" "00146424" "" "" "" "8" "" "00006" "{PMID:Watts 2004:15034582}, {OMIM601023:0001}" "4-generation family, 8 affecteds" "" "" "United States" "" "0" "" "" "Europe" "15034582-Fam3" "00146425" "" "" "" "10" "" "00006" "{PMID:Watts 2004:15034582}, {OMIM601023:0001}" "3-generation family, 10 affecteds" "" "" "United States" "" "0" "" "" "Europe" "15034582-Fam7" "00146426" "" "" "" "6" "" "00006" "{PMID:Watts 2004:15034582}, {OMIM601023:0001}" "4-generation family, 6 affecteds" "" "" "United States" "" "0" "" "" "Europe" "15034582-Fam16" "00146427" "" "" "" "20" "" "00006" "{PMID:Watts 2004:15034582}, {OMIM601023:0002}" "6-generation family, 20 affecteds" "" "" "United States" "" "0" "" "" "Europe" "15034582-Fam2" "00146428" "" "" "" "11" "" "00006" "{PMID:Watts 2004:15034582}, {OMIM601023:0002}" "4-generation family, 11 affecteds" "" "" "United States" "" "0" "" "" "Europe" "15034582-Fam5" "00146429" "" "" "" "12" "" "00006" "{PMID:Watts 2004:15034582}, {OMIM601023:0001}" "4-generation family, 12 affecteds" "" "" "United States" "" "0" "" "" "Europe" "15034582-Fam4" "00146430" "" "" "" "3" "" "00006" "{PMID:Watts 2004:15034582}, {OMIM601023:0003}" "3-generation family, 3 affecteds" "" "" "United States" "" "0" "" "" "Europe" "15034582-Fam6" "00146431" "" "" "" "6" "" "00006" "{PMID:Watts 2004:15034582}, {OMIM601023:0004}" "5-generation family, 6 affecteds" "" "" "United States" "" "0" "" "" "" "15034582-Fam9" "00146432" "" "" "" "6" "" "00006" "{PMID:Watts 2004:15034582}, {OMIM601023:0001}" "5-generation family, 6 affecteds" "" "" "United States" "" "0" "" "" "" "15034582-Fam10" "00146433" "" "" "" "9" "" "00006" "{PMID:Tucker 1982:7182974}" "5-generation family, 9 affecteds" "" "" "United States" "" "0" "" "" "" "15034582-Fam11" "00146434" "" "" "" "4" "" "00006" "{PMID:Watts 2004:15034582}, {OMIM601023:0006}" "4-generation family, 4 affecteds" "" "" "United States" "" "0" "" "" "" "15034582-Fam13" "00146435" "" "" "" "8" "" "00006" "{PMID:Watts 2004:15034582}, {OMIM601023:0001}" "4-generation family, 8 affecteds" "" "" "United States" "" "0" "" "" "" "15034582-Fam15" "00146436" "" "" "" "8" "" "00006" "{PMID:Viassolo 2008:18341608}" "5-generation family, 8 affecteds" "" "" "Italy" "" "0" "" "" "" "18341608-Fam1" "00146437" "" "" "" "5" "" "00006" "{PMID:Haubenberger 2005:16247064}" "2-generation family, 5 affecteds" "" "" "Austria" "" "0" "" "" "" "16247064-FamA" "00146438" "" "" "" "6" "" "00006" "{PMID:van der Zee 2009:19704082}" "4-generation family, 6 affecteds" "" "" "Belgium" "" "0" "" "" "" "19704082-DR7.P4" "00146439" "" "" "" "4" "" "00006" "{PMID:van der Zee 2009:19704082}" "2-generation family, 4 affecteds" "" "" "Belgium" "" "0" "" "" "" "19704082-DR40.P2" "00146440" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "" "?" "00146441" "" "" "" "1" "" "00464" "" "" "M" "" "United States" "" "0" "" "" "" "?" "00146442" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "" "?" "00146443" "" "" "" "1" "" "02354" "" "" "M" "" "Australia" "" "0" "" "" "white" "?" "00146444" "" "" "" "1" "" "02353" "" "" "" "no" "Japan" "" "0" "" "" "Japanese" "?" "00149281" "" "" "" "1" "" "02360" "" "" "" "" "United States" "" "0" "" "" "white" "" "00149282" "" "" "" "3" "" "02360" "" "" "" "" "United States" "69y" "0" "" "" "white (Northern European Ancestry)" "" "00149283" "" "" "" "7" "" "02360" "" "" "" "" "United States" "63y" "0" "" "" "white (Northern European Ancestry)" "" "00149284" "" "" "" "1" "" "02360" "" "No dementia" "" "" "United States" "" "0" "" "" "white (Northern European Ancestry)" "" "00149285" "" "" "" "4" "" "02360" "" "" "" "" "United States" "" "0" "" "" "white (Northern European Ancestry)" "" "00149286" "" "" "" "5" "" "02360" "" "" "" "" "United States" "64y04m" "0" "" "" "white" "" "00149287" "" "" "" "1" "" "02360" "" "No dementia" "" "" "United States" "" "0" "" "" "white" "" "00149288" "" "" "" "1" "" "02360" "" "" "" "" "United States" "" "0" "" "" "white (Scottish Ancestry)" "" "00149289" "" "" "" "4" "" "02360" "" "" "" "" "United States" "60y04m" "0" "" "" "white (Northern European Ancestry)" "" "00149290" "" "" "" "3" "" "02360" "" "" "" "" "United States" "" "0" "" "" "white (German Ancestry)" "" "00149291" "" "" "" "1" "" "02360" "" "No dementia" "" "" "Canada" "" "0" "" "" "white (United Kingdom (Great Britain) Ancestry)" "" "00149292" "" "" "" "1" "" "02360" "" "" "" "" "United States" "" "0" "" "" "white" "" "00149293" "" "" "" "1" "" "02360" "" "" "" "" "United States" "" "0" "" "" "white" "" "00149294" "" "" "" "4" "" "02360" "" "" "" "" "Austria" "68y10m" "0" "" "" "white" "" "00149295" "" "" "" "1" "" "02360" "" "Dementia at 50 years" "" "" "Germany" "49y" "0" "" "" "white" "" "00149296" "" "" "" "3" "" "02360" "" "" "" "" "Poland" "52y" "0" "" "" "white" "" "00149297" "" "" "" "2" "" "02360" "" "" "" "" "United States" "52y" "0" "" "" "white" "" "00149298" "" "" "" "1" "" "02360" "" "" "" "" "" "" "0" "" "" "white" "" "00149299" "" "" "" "9" "" "02360" "" "" "" "" "" "63y10m" "0" "" "" "white" "" "00149300" "" "" "" "6" "" "02360" "" "" "" "" "Belgium" "77y09m" "0" "" "" "white" "" "00149301" "" "" "" "4" "" "02360" "" "" "" "" "Belgium" "57y" "0" "" "" "white" "" "00149302" "" "" "" "1" "" "02360" "" "Progressive cognitive impairment since late 60s" "" "" "" "" "0" "" "" "" "" "00149303" "" "" "" "2" "" "02360" "" "" "" "" "Italy" "58y06m" "0" "" "" "white" "" "00149304" "" "" "" "1" "" "02360" "" "" "" "" "Italy" "" "0" "" "" "white" "" "00149305" "" "" "" "1" "" "02360" "" "" "" "" "" "" "0" "" "" "" "" "00149306" "" "" "" "1" "" "02360" "" "" "" "" "" "" "0" "" "" "" "" "00149307" "" "" "" "1" "" "02360" "" "" "" "" "" "" "0" "" "" "" "" "00149359" "" "" "" "2" "" "02360" "" "" "" "" "Italy" "56y" "0" "" "" "white" "" "00149419" "" "" "" "2" "" "02360" "" "" "" "" "" "75y" "0" "" "" "" "" "00149420" "" "" "" "4" "" "02360" "" "" "" "" "" "" "0" "" "" "" "" "00149421" "" "" "" "8" "" "02360" "" "" "" "" "" "" "0" "" "" "" "" "00149422" "" "" "" "1" "" "02360" "" "" "" "" "" "" "0" "" "" "" "" "00149449" "" "" "" "4" "" "02360" "" "" "" "" "Germany" "67y" "0" "" "" "white" "" "00149620" "" "" "" "1" "" "02360" "" "" "" "" "" "" "0" "" "" "" "" "00149622" "" "" "" "2" "" "02360" "" "" "" "" "France; Spain" "" "0" "" "" "white" "" "00149623" "" "" "" "2" "" "02360" "" "" "" "" "France; Spain" "" "0" "" "" "white" "" "00149624" "" "" "" "2" "" "02360" "" "" "" "" "France; Spain" "" "0" "" "" "white" "" "00149625" "" "" "" "3" "" "02360" "" "" "" "" "France; Spain" "" "0" "" "" "white" "" "00149626" "" "" "" "2" "" "02360" "" "" "" "" "France; Spain" "" "0" "" "" "white" "" "00149627" "" "" "" "3" "" "02360" "" "" "" "" "France; Spain" "" "0" "" "" "white" "" "00149628" "" "" "" "1" "" "02360" "" "" "" "" "France; Spain" "" "0" "" "" "white" "" "00149629" "" "" "" "1" "" "02360" "" "" "" "" "France; Spain" "" "0" "" "" "white" "" "00149630" "" "" "" "1" "" "02360" "" "" "" "" "France; Spain" "" "0" "" "" "white" "" "00149631" "" "" "" "2" "" "02360" "" "" "" "" "France; Spain" "" "0" "" "" "white" "" "00149667" "" "" "" "3" "" "02360" "" "" "" "" "Australia" "" "0" "" "" "Anglo-Saxon" "" "00150092" "" "" "" "3" "" "02360" "" "" "" "" "Korea" "" "0" "" "" "Asian" "" "00150093" "" "" "" "1" "" "02360" "" "" "" "" "" "" "0" "" "" "Asian" "" "00150094" "" "" "" "1" "" "02360" "" "" "" "" "" "" "0" "" "" "Asian" "" "00150095" "" "" "" "1" "" "02360" "" "" "" "" "" "" "0" "" "" "Asian" "" "00150096" "" "" "" "1" "" "02360" "" "" "" "" "" "" "0" "" "" "Asian" "" "00150097" "" "" "" "1" "" "02360" "" "" "" "" "" "" "0" "" "" "Asian" "" "00150098" "" "" "" "2" "" "02360" "" "" "" "" "" "" "0" "" "" "Asian" "" "00222490" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222541" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222714" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00222720" "" "" "" "1" "" "00430" "{PMID:Nallamilli 2018:30564623}" "" "" "" "(United States)" "" "0" "" "" "" "30564623-Pat" "00274299" "" "" "" "2" "" "00006" "{PMID:Reddy 2017:27708273}" "2-generation family, 2 affected brothers" "M" "" "United States" "" "0" "" "" "Germany" "Fam1250" "00274432" "" "" "" "1" "" "00006" "{PMID:Park 2017:27363342}" "" "F" "" "Korea" "" "0" "" "" "" "Pat209" "00289136" "" "" "" "1" "" "00006" "{PMID:Evilä 2016:26627873}" "" "" "" "Germany" "" "0" "" "" "" "P5" "00295546" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00301388" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00314518" "" "" "" "2" "" "00006" "{PMID:Topf 2020:32528171}" "analysis 1001 patients with unexplained limb-girdle weakness" "" "" "" "" "0" "" "" "" "" "00376137" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "180400" "00399022" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "M" "" "Spain" "" "0" "" "" "" "P55" "00399081" "" "" "" "1" "" "00006" "{PMID:Gonzalez-Quereda 2020:32403337}" "patient" "M" "" "Spain" "" "0" "" "" "" "P161" "00402417" "" "" "" "1" "" "01929" "{PMID:Cerino 2022:35741838}\r\n{PMID:Schiava 2022:35896379}" "" "M" "no" "Chile" "" "0" "" "" "hispanic" "P28/Myo090" "00408683" "" "" "" "1" "" "00006" "{PMID:Thomas 2022:34085946}" "no family history" "" "no" "France" "" "0" "" "" "" "Pat19" "00413133" "" "" "" "1" "" "00006" "{PMID:Cerino 2022:35741838}" "analysis 82 myopathy patients" "" "" "Chile" "" "0" "" "" "" "P76/Myo152" "00416525" "" "" "" "1" "" "01929" "" "" "M" "no" "Chile" "" "" "" "" "hispanic" "" "00440568" "" "" "" "1" "" "00006" "{PMID:Mah-Som 2023:37883978}" "" "M" "" "" "" "0" "" "" "Europe-N" "Pat1" "00440569" "" "" "" "1" "" "00006" "{PMID:Mah-Som 2023:37883978}" "" "M" "" "" "" "0" "" "" "Europe-N" "Pat2" "00440570" "" "" "" "1" "" "00006" "{PMID:Mah-Som 2023:37883978}" "" "F" "" "" "" "0" "" "" "Europe-N" "Pat3" "00440571" "" "" "" "1" "" "00006" "{PMID:Mah-Som 2023:37883978}" "" "M" "" "" "" "0" "" "" "Arab" "Pat4" "00440572" "" "" "" "1" "" "00006" "{PMID:Mah-Som 2023:37883978}" "" "M" "" "" "" "0" "" "" "Europe-N" "Pat5" "00440573" "" "" "" "1" "" "00006" "{PMID:Mah-Som 2023:37883978}" "" "F" "" "" "" "0" "" "" "Europe-N;Thailand" "Pat6" "00440574" "" "" "" "1" "" "00006" "{PMID:Mah-Som 2023:37883978}" "" "F" "" "" "" "0" "" "" "Europe-N" "Pat7" "00440575" "" "" "" "1" "" "00006" "{PMID:Mah-Som 2023:37883978}" "" "M" "" "" "" "0" "" "" "Europe-N" "Pat8" "00440576" "" "" "" "1" "" "00006" "{PMID:Mah-Som 2023:37883978}" "" "M" "" "" "" "0" "" "" "Europe-N" "Pat9" "00440577" "" "" "" "1" "" "00006" "{PMID:Mah-Som 2023:37883978}" "" "F" "" "" "" "0" "" "" "Europe-N" "Pat10" "00440578" "" "" "" "1" "" "00006" "{PMID:Mah-Som 2023:37883978}" "" "F" "" "" "" "0" "" "" "Europe-N" "Pat11" "00440579" "" "" "" "1" "" "00006" "{PMID:Mah-Som 2023:37883978}" "" "M" "" "" "" "0" "" "" "Europe-N;Hispanic" "Pat12" "00440580" "" "" "" "1" "" "00006" "{PMID:Mah-Som 2023:37883978}" "" "F" "" "" "" "0" "" "" "Europe-N" "Pat13" "00442702" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat74" "00442767" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "M" "" "" "" "0" "" "" "" "Pat139" "00442813" "" "" "" "1" "" "00006" "{PMID:Westra 2019:31127727}" "" "F" "" "" "" "0" "" "" "" "Pat185" "00447685" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "MISC-301" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 111 "{{individualid}}" "{{diseaseid}}" "00003018" "00218" "00078544" "04255" "00105225" "05105" "00146423" "00218" "00146424" "00218" "00146425" "00218" "00146426" "00218" "00146427" "00218" "00146428" "00218" "00146429" "00218" "00146430" "00218" "00146431" "00218" "00146432" "00218" "00146433" "00218" "00146434" "00218" "00146435" "00218" "00146436" "00218" "00146437" "00218" "00146438" "00218" "00146439" "00218" "00146440" "05105" "00146441" "05105" "00146442" "05105" "00146443" "00198" "00146444" "00218" "00149281" "00218" "00149282" "00218" "00149283" "00218" "00149284" "00218" "00149285" "00218" "00149286" "00218" "00149287" "00218" "00149288" "00218" "00149289" "00218" "00149290" "00218" "00149291" "00218" "00149292" "00218" "00149293" "00218" "00149294" "00218" "00149295" "00218" "00149296" "00218" "00149297" "00218" "00149298" "00218" "00149299" "00218" "00149300" "00096" "00149301" "00218" "00149302" "00218" "00149303" "00218" "00149304" "00218" "00149305" "00204" "00149306" "00204" "00149307" "00204" "00149359" "00218" "00149419" "00218" "00149420" "00218" "00149421" "00218" "00149422" "00096" "00149449" "00198" "00149449" "00218" "00149622" "00218" "00149623" "00218" "00149624" "00218" "00149625" "00218" "00149626" "00218" "00149627" "00218" "00149628" "00218" "00149629" "00218" "00149630" "00218" "00149631" "00218" "00149667" "00218" "00150092" "00218" "00150093" "05106" "00150094" "00218" "00150095" "00198" "00150096" "05126" "00150097" "05106" "00150098" "00198" "00222490" "05126" "00222541" "05126" "00222714" "05126" "00222720" "05126" "00274299" "05126" "00274432" "05121" "00289136" "00244" "00295546" "00198" "00301388" "00198" "00314518" "05126" "00376137" "00218" "00399022" "05618" "00399081" "05618" "00402417" "05105" "00408683" "05618" "00413133" "00244" "00416525" "05105" "00440568" "05611" "00440569" "05611" "00440570" "05611" "00440571" "05611" "00440572" "05611" "00440573" "05611" "00440574" "05611" "00440575" "05611" "00440576" "05611" "00440577" "05611" "00440578" "05611" "00440579" "05611" "00440580" "05611" "00442702" "05618" "00442767" "05618" "00442813" "05618" "00447685" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00096, 00198, 00204, 00218, 00244, 03493, 04255, 05105, 05106, 05121, 05126, 05611, 05618, 06808 ## Count = 105 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000001869" "00218" "00003018" "00130" "Isolated (sporadic)" "" "hereditary spastic paraplegia" "06y" "" "" "" "" "" "" "" "IBMPFD" "hereditary spastic paraplegia" "" "0000058320" "04255" "00078544" "01604" "Isolated (sporadic)" "" "muscle weakness extended to all 4 limbs (HP:0003690), bulbar signs (HP:0002483), severe amyotrophy of all 4 limbs (HP:0003202), diminished deep tendon reflexes (HP:0001265), extensor plantar reflexes (HP:0003487), tongue atrophic (HP:0012473), complete tetraparesis (HP:0002273), hearing difficulty (HP:?), mental impairment (\r\nHP:0100543), complete limb palsy (HP:?), atrophy of the frontal and temporal lobes (HP:0006892), dementia (HP:0000726)" "62y" "" "spondylotic myelopathy (HP:0002318)" "" "" "" "" "" "" "" "" "0000085337" "05105" "00105225" "01257" "Familial, autosomal dominant" "" "inclusion body myopathy, Paget disease (HP:0030441)" "" "" "" "" "" "" "" "" "" "" "" "0000119163" "00218" "00146423" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000119164" "00218" "00146424" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000119165" "00218" "00146425" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000119166" "00218" "00146426" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000119167" "00218" "00146427" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000119168" "00218" "00146428" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000119169" "00218" "00146429" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000119170" "00218" "00146430" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000119171" "00218" "00146431" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000119172" "00218" "00146432" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000119173" "00218" "00146433" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000119174" "00218" "00146434" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000119175" "00218" "00146435" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000119176" "00218" "00146436" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000119177" "00218" "00146437" "00006" "Familial, autosomal dominant" "" "no frontotemporal dementia(>60y)" "" "" "" "" "" "" "" "" "" "" "" "0000119178" "00218" "00146438" "00006" "Familial, autosomal dominant" "" "clinical heterogeneity and variable penetrance" "" "" "" "" "" "" "" "" "" "" "" "0000119179" "00218" "00146439" "00006" "Familial, autosomal dominant" "" "clinical heterogeneity and variable penetrance" "" "" "" "" "" "" "" "" "" "" "" "0000119180" "05105" "00146440" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000119181" "05105" "00146441" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000119182" "05105" "00146442" "00464" "Familial, autosomal dominant" "" "distal>proximal weakness; non-inflammatory IBM; myopathic EMG; CPK normal" "" "" "" "" "" "" "" "" "" "" "" "0000119183" "00198" "00146443" "02354" "Unknown" "" "distal upper limb weakness and muscle wasting, late-adult onset (>70y), upper limbs alone, no FTD or Paget disease of bone; CPK normal" "71y" "75y" "distal upper limb weakness, muscle wasting" "" "" "" "" "" "" "" "" "0000119184" "00218" "00146444" "02353" "Unknown" "" "able to walk, CPK 714 IU/l" "48y" "53y" "" "" "" "" "" "" "" "" "" "0000121697" "00108" "00149281" "02360" "Familial, autosomal dominant" "58y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121698" "00108" "00149282" "02360" "Familial, autosomal dominant" "49y06m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121699" "00108" "00149283" "02360" "Familial, autosomal dominant" "52y11m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121700" "00108" "00149284" "02360" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121701" "00108" "00149285" "02360" "Familial, autosomal dominant" "57y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121702" "00108" "00149286" "02360" "Familial, autosomal dominant" "53y04m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121703" "00108" "00149287" "02360" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121704" "00108" "00149288" "02360" "Familial, autosomal dominant" "79y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121705" "00108" "00149289" "02360" "Familial, autosomal dominant" "55y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121706" "00108" "00149290" "02360" "Familial, autosomal dominant" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121707" "00108" "00149291" "02360" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121708" "00108" "00149292" "02360" "Familial, autosomal dominant" "60y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121709" "00108" "00149293" "02360" "Familial, autosomal dominant" "52y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121710" "00108" "00149294" "02360" "Familial, autosomal dominant" "49y04m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121711" "00108" "00149295" "02360" "Familial, autosomal dominant" "46y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121712" "00108" "00149296" "02360" "Familial, autosomal dominant" "45y08m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121713" "00108" "00149297" "02360" "Familial, autosomal dominant" "36y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121714" "00108" "00149298" "02360" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121715" "00108" "00149299" "02360" "Familial, autosomal dominant" "46y08m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121716" "00104" "00149300" "02360" "Familial, autosomal dominant" "70y08m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121717" "00108" "00149301" "02360" "Familial" "46y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121718" "00108" "00149302" "02360" "Familial" "55y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121719" "00108" "00149303" "02360" "Familial, autosomal dominant" "41y06m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121720" "00108" "00149304" "02360" "Isolated (sporadic)" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121721" "00095" "00149305" "02360" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121722" "00095" "00149306" "02360" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121723" "00095" "00149307" "02360" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121775" "00108" "00149359" "02360" "Familial, autosomal dominant" "53y06m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121834" "00108" "00149419" "02360" "Familial" "70y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121835" "00108" "00149420" "02360" "Familial" "53y08m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121836" "00108" "00149421" "02360" "Familial" "48y04m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121837" "00104" "00149422" "02360" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121864" "00108" "00149449" "02360" "Familial, autosomal dominant" "42y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122036" "00108" "00149622" "02360" "Familial, autosomal dominant" "26y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122037" "00108" "00149623" "02360" "Familial, autosomal dominant" "36y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122038" "00108" "00149624" "02360" "Familial, autosomal dominant" "43y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122039" "00108" "00149625" "02360" "Familial, autosomal dominant" "64y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122040" "00108" "00149626" "02360" "Familial, autosomal dominant" "48y06m" "" "" "" "" "" "" "" "" "" "" "" "" "0000122041" "00108" "00149627" "02360" "Familial, autosomal dominant" "29y08m" "" "" "" "" "" "" "" "" "" "" "" "" "0000122042" "00108" "00149628" "02360" "Familial" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122043" "00108" "00149629" "02360" "Familial" "38y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122044" "00108" "00149630" "02360" "Familial" "30y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122045" "00108" "00149631" "02360" "Familial, autosomal dominant" "53y06m" "" "" "" "" "" "" "" "" "" "" "" "" "0000122081" "00108" "00149667" "02360" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000122504" "00108" "00150092" "02360" "Familial, autosomal dominant" "48y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122505" "00106" "00150093" "02360" "Unknown" "58y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122506" "00108" "00150094" "02360" "Unknown" "47y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122507" "00093" "00150095" "02360" "Unknown" "45y" "" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000122508" "00111" "00150096" "02360" "Unknown" "38y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122509" "00106" "00150097" "02360" "Unknown" "32y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122510" "00093" "00150098" "02360" "Unknown" "42y06m" "" "" "" "" "" "" "" "" "" "" "Myopathy" "" "0000209244" "05126" "00274299" "00006" "Familial, autosomal dominant" "" "elevated CK level (400’s); muscle histology dystrophic; ambulatory" "42y" "" "" "" "" "" "" "" "" "LGMD" "" "0000209375" "05121" "00274432" "00006" "Unknown" "" "proximal muscle weakness; muscle myopathic pattern with rimmed vacuoles; CK 80 IU/L; no family history" "45y" "47y" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000222769" "00244" "00289136" "00006" "Isolated (sporadic)" "" "distal myopathy" "" "" "" "" "" "" "" "" "IBMPFD1" "myopathy" "" "0000223111" "00198" "00295546" "01164" "Unknown" "" "Abnormality of muscle morphology (HP:0011805); Myopathy (HP:0003198)" "" "" "" "" "" "" "" "" "" "" "" "0000228566" "00198" "00301388" "01164" "Unknown" "" "Pes cavus (HP:0001761); Hammertoe (HP:0001765); Peripheral axonal neuropathy (HP:0003477)" "" "" "" "" "" "" "" "" "" "" "" "0000271348" "00218" "00376137" "01164" "Familial, autosomal dominant" "" "Muscle weakness, Achilles tendon contracture, Scapuloperoneal weakness, Abnormality of the Achilles tendon, Contractures involving the joints of the feet, Family history, Past medical history" "" "62y" "" "" "" "" "" "" "" "" "" "0000292110" "05618" "00399022" "00006" "Unknown" "" "raised serum CK 2 fold; muscle biopsy isolated fibers with rimmed vacuoles" "20y" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000292169" "05618" "00399081" "00006" "Unknown" "" "serum CK 146 U/L; muscle biopsy rimmed vacuoles; limb-girdle muscle weakness" "50y" "" "" "" "" "" "" "" "" "neuromuscular disorder" "" "0000295181" "05105" "00402417" "01929" "Familial, autosomal dominant" "62y" "" "55y" "66y" "LGMW" "" "" "" "" "" "IBM" "LGMW" "" "0000300801" "05618" "00408683" "00006" "Unknown" "" "" "47y" "" "" "" "" "" "" "" "IBMPFD" "neuromuscular disease" "" "0000305114" "00244" "00413133" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "VCP-related myopathy" "limb-girdle muscular weakness" "" "0000308245" "05105" "00416525" "01929" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000330480" "05611" "00440568" "00006" "Isolated (sporadic)" "2y" "gross motor delay, 1y-walk (earlier milestones mildly late); fine motor delay, 6m-unsteady/slow reach, now age-appropriate; no language delay, first words 7m; no intellectual disability; brief head-banging behavior, resolved; truncal +/- lower extremity hypotonia, full-body tremor (resolved); EEG normal; MRI brain 7m-normal; mildly low-set ears, anteverted nares, prominent forehead and chin, positional plagiocephaly; torticollis, inguinal hernia requiring repair, mild hypospadias w/chordee; 2m-pyloric stenosis s/p pylorotomy, mild thoracolumbar kyphosis" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000330481" "05611" "00440569" "00006" "Isolated (sporadic)" "9y" "gross motor delay, 3y-walk; fine motor delay, 3y-Pincer grasp, 4y-utensil, complicated by hypotonia; language delay, first words 9m, sentences 5y; mild intellectual disability 5y-IQ87; autism, attention-deficit/hyperactivity disorder, social anxiety, hand-flapping, poor sleep; hypotonia (generalized symmetric limbs), hyporeflexia; EEG normal; MRI brain minimal bilateral frontal, parietal, aperiventricular FLAIR changes (1y and 4y); broad forehead with frontal bossing, long face, posteriorly rotated ears (L mildly low-set), deep- set eyes, high-arched palate, thin upper lip; bilateral hydrocele; leg pronation/abnormal hip alignment requiring orthotics, asthma, constipation, joint hypermobility" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000330482" "05611" "00440570" "00006" "Isolated (sporadic)" "8y" "gross motor delay, 2y-walk; fine motor delay, difficulty with handwriting, shoelaces, buttons, zippers and cutting food; non-verbal, 3-word vocabulary; mild intellectual disability 8y-IQ48; some features of autism, hand-flapping behavior; hypotonia in infancy; MRI brain 3m-w/thin corpus callosum, slightly small pons, slight prominence of extra-axial CSF spaces and ventricles; broad forehead, deep-set eyes, bitemporal narrowing, space between upper incisors, thin upper lip; inward-turning feet requiring splinting; gastroesophageal reflux disease, constipation, small kidneys w/hydronephrosis, short stature (4y-2nd percentile)" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000330483" "05611" "00440571" "00006" "Isolated (sporadic)" "13y" "gross motor delay, requires orthoses to walk due to hypotonia, uses wheelchair; fine motor delay; language delay, first words 9y, few words; 12y-severe intellectual disability (developmentally 2y); happy demeanor, hand-flapping behavior; hypotonia (legs), EEG with epileptic activity, no clinical seizures; MRI brain 7y-slightly asymmetric hemispheric sizes, reduced white matter, possible mild polymicrogyria at insulae bilaterally; down-slanting palpebral fissures, convex nasal ridge, overhanging nasal tip, uplifted earlobes, thin upper lip, protuberant lower jaw, high palate, long toes; punctate corneal clouding, thin diaphysis/underdeveloped epiphyses of long bones, calcaneovagus deformity, umbilical hernia s/p repair; scoliosis" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000330484" "05611" "00440572" "00006" "Isolated (sporadic)" "11y" "gross motor delay, 2.3y-walk; fine motor delay, difficulty writing and cutting food, reduced coordination; language delay, first words 18m, sentences 3y, dysarthria; no intellectual disability, school acquisitions slow; attention-deficit/hyperactivity disorder, anxiety, depression; hypotonia, seizures (on 4 AEDs); MRI brain congenital hydrocephalus with quadriventricular dilatation and cerebral atrophy; frontal bossing; congenital hydrocephalus; astigmatism, hyperopia, gastroesophageal reflux disease" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000330485" "05611" "00440573" "00006" "Isolated (sporadic)" "4y" "gross motor delay, 2.6y-walk; no fine motor delay; language delay, first words 2y, no sentences 4y; mild-moderate intellectual disability; normal behaviour; hypotonia; MRI brain 3.3y-enlarged perivascular spaces; dolichocephaly, mild frontal bossing, deep nasal root; no congenital anomaly; mild myopia" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000330486" "05611" "00440574" "00006" "Isolated (sporadic)" "3y" "gross motor delay, 3y-lifts head, rolls, and sits when placed but not independently, cannot walk.; fine motor delay; language delay, first words 3y, 3-word vocabulary; intellectual disability; stereotypic hand movements; hypotonia, two febrile seizures; MRI brain hydrocephalus, communicating; prominent forehead, deep-set eyes, down-slanting palpebral fissures and eyebrows, low-set/dysplastic ears, long smooth philtrum with thin upper lip, retrognathia, single palmar crease; patent ductus arteriosus, patent foramen ovale/atrial septal defect.; on 4 antihypertensives, strabismus, anisocoria" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000330487" "05611" "00440575" "00006" "Isolated (sporadic)" "11y" "gross motor delay, 8y-walk with orthoses; fine motor delay; language delay, first words 1y, 5-word vocabulary; severe intellectual disability; autism, outbursts, poor sleep; hypotonia; MRI brain 1y-periventricular leukomalacia; frontal bossing with asymmetry, down-slanting palpebral fissures, hypotelorism, ptosis, microretrognathia, high palate, dental anomalies; bilateral hip dysplasia requiring surgery, hydronephrosis, cryptorchidism requiring surgery; strabismus, gastroesophageal reflux disease, gastritis, constipation with encopresis, apneic episodes in infancy" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000330488" "05611" "00440576" "00006" "Isolated (sporadic)" "18y" "gross motor delay, 1.7y-walk, poor balance; fine motor delay, poor handwriting; language delay, first words >1y, sentences 4y, dysarthria; mild intellectual disability, 1-3 below peers; attention-deficit/hyperactivity disorder; hypotonia, poor coordination/balance; MRI brain 14y-small cranial vault with suggestion of mild global volume loss; 17y-high foot arches (no surgery required); no congenital anomaly; scoliosis, mild astigmatism, glasses" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000330489" "05611" "00440577" "00006" "Isolated (sporadic)" "13y" "gross motor delay, 1.6y-walk; decreased fine motor coordination; language delay, first words 2y, sentences 4.5y, apraxia; functionally mild intellectual disability WISC-V IQ48; attention-deficit/hyperactivity disorder, anxiety (regarding seizures), outbursts, sleep difficulty; hypotonia (with feeding difficulties in infancy), 10y-seizures (on lamotrigine); MRI brain m11y-ild prominence of lateral/3rd ventricles, mild thinning of corpus callosum/central white matter volume loss; low-lying columella, thin upper lip; no congenital anomaly; thoracolumbar scoliosis, history of feeding difficulties" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000330490" "05611" "00440578" "00006" "Isolated (sporadic)" "22y" "gross motor delay, 1.8y-walk, coordination complicated by hemiparesis; fine motor delay, complicated by hemiparesis, tremor, dysdiadochokinesis; language delay, first words 2y, sentences 2.5y, dysarthria, expressive aphasia; mild intellectual disability, IQ in 50s; none noted; hypotonia, cerebral palsy (R leg hemiparesis/hemiatrophy), 9y-coarse action tremor of both hands on valproate and deep brain stimulator), dysdiadochokinesis; MRI brain 10y-normal, 16y-mild prominence of extra-axial CSF spaces, 21y-mild sulcal prominence/ cortical atrophy of frontal lobes; prominent forehead, low-set ears, down-slanting palpebral fissures, thin upper lip, smooth philtrum; hammer toes, hyperflexible hands/feet, pes cavus; no congenital anomaly; 0-6y-ketotic hypoglycemia, headaches, constipation, 5y-bifocals, skin biopsy w/granular deposits and reduced eccrine glands, muscle atrophy/cramps, R hemiparesis" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000330491" "05611" "00440579" "00006" "Isolated (sporadic)" "18y" "gross motor delay, 1.2y-walk; fine motor delay, complicated by tremor of hands; normal speech development; no intellectual disability, 8y-IQ105, 14y-IQ76; 4y-pervasive developmental disorder, autism spectrum, attention-deficit/hyperactivity disorder, anxiety with skin/nail picking, sleep difficulty; bilateral hand tremor, hyperreflexia with clonus, 5-9y infrequent seizures (now off AEDs); non-contrast MRI reportedly normal; normal head CT; pes cavus (acquired) s/p surgery; ventricular septal defect; myopia, constipation" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000330492" "05611" "00440580" "00006" "Isolated (sporadic)" "13y" "gross motor delay, 2y-walk; fine motor delay, tremor, dysmetria; language delay, first words 21m, sentences 8y, limited vocabulary; mild intellectual disability, developmentally 20m at 4 y; normal behaviour; hypotonia, action tremor, dysmetria; MRI brain hypoplasia of corpus callosum splenium, dilation of Virchow-Robin spaces focused in left parietal subcortical area with foliation anomaly and cortico-subcortical dysplasia.; broad forehead, synophrys, down-slanting palpebral fissures, ptosis, low-set posteriorly rotated ears with simplified folding, full cheeks, smooth philtrum, thin upper lip, microdontia, macroglossia; patent foramen ovale, large left kidney with duplication of urinary system; many nevi, hyperphagia" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000332049" "05618" "00442702" "00006" "Familial, autosomal dominant" "" "atrophy, muscle weakness" "" "" "" "" "" "" "" "" "" "muscle weakness" "" "0000332114" "05618" "00442767" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Brody syndrome" "" "0000332160" "05618" "00442813" "00006" "Unknown" "" "Muscle weakness, hypermobility, dysmorphic features" "" "" "" "" "" "" "" "" "" "muscle weakness" "" "0000336884" "00198" "00447685" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "eye diseaes" "" ## Screenings ## Do not remove or alter this header ## ## Count = 111 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000002924" "00003018" "1" "00130" "00008" "2013-10-02 11:35:03" "" "" "SEQ" "DNA" "" "" "0000078720" "00078544" "1" "01604" "01604" "2016-07-20 10:26:35" "" "" "PCR;SEQ" "DNA" "" "" "0000105695" "00105225" "1" "01257" "01257" "2017-06-21 13:06:22" "" "" "SEQ" "DNA" "BLOOD" "" "0000147278" "00146423" "1" "00006" "00006" "2010-03-21 13:10:29" "00006" "2012-03-04 15:57:59" "DHPLC;SEQ" "DNA" "" "" "0000147279" "00146424" "1" "00006" "00006" "2010-03-21 13:10:29" "00006" "2012-03-04 15:57:59" "DHPLC;SEQ" "DNA" "" "" "0000147280" "00146425" "1" "00006" "00006" "2010-03-21 13:10:29" "00006" "2012-03-04 15:57:59" "DHPLC;SEQ" "DNA" "" "" "0000147281" "00146426" "1" "00006" "00006" "2010-03-21 13:10:29" "00006" "2012-03-04 15:57:59" "DHPLC;SEQ" "DNA" "" "" "0000147282" "00146427" "1" "00006" "00006" "2010-03-21 13:10:29" "00006" "2012-03-04 15:57:59" "DHPLC;SEQ" "DNA" "" "" "0000147283" "00146428" "1" "00006" "00006" "2010-03-21 13:10:29" "00006" "2012-03-04 15:57:59" "DHPLC;SEQ" "DNA" "" "" "0000147284" "00146429" "1" "00006" "00006" "2010-03-21 13:10:30" "00006" "2012-03-04 15:57:59" "DHPLC;SEQ" "DNA" "" "" "0000147285" "00146430" "1" "00006" "00006" "2010-03-21 13:10:30" "00006" "2012-03-04 15:57:59" "SEQ" "DNA" "" "" "0000147286" "00146431" "1" "00006" "00006" "2010-03-21 13:10:30" "00006" "2012-03-04 15:57:59" "SEQ" "DNA" "" "" "0000147287" "00146432" "1" "00006" "00006" "2010-03-21 13:10:30" "00006" "2012-03-04 15:57:59" "DHPLC;SEQ" "DNA" "" "" "0000147288" "00146433" "1" "00006" "00006" "2010-03-21 13:10:30" "00006" "2012-03-04 15:57:59" "SEQ" "DNA" "" "" "0000147289" "00146434" "1" "00006" "00006" "2010-03-21 13:10:30" "00006" "2012-03-04 15:57:59" "DHPLC;SEQ" "DNA" "" "" "0000147290" "00146435" "1" "00006" "00006" "2010-03-21 13:10:30" "00006" "2012-03-04 15:57:59" "DHPLC;SEQ" "DNA" "" "" "0000147291" "00146436" "1" "00006" "00006" "2010-03-21 13:10:30" "00006" "2012-03-04 15:57:59" "SEQ" "DNA" "" "" "0000147292" "00146437" "1" "00006" "00006" "2010-03-21 13:10:30" "00006" "2012-03-04 15:57:59" "SEQ" "DNA" "" "" "0000147293" "00146438" "1" "00006" "00006" "2010-03-21 13:10:30" "00006" "2012-03-04 15:57:59" "SEQ" "DNA" "" "" "0000147294" "00146439" "1" "00006" "00006" "2010-03-21 13:10:30" "00006" "2012-03-04 15:57:59" "SEQ" "DNA" "" "" "0000147295" "00146440" "1" "00464" "00464" "2012-05-23 20:00:09" "00006" "2012-05-24 22:17:42" "PCR;SEQ" "DNA" "" "" "0000147296" "00146441" "1" "00464" "00464" "2012-10-19 18:16:41" "00006" "2012-10-23 21:11:17" "PCR;SEQ" "DNA" "" "" "0000147297" "00146442" "1" "00464" "00464" "2013-07-01 18:02:53" "00006" "2013-07-05 14:26:19" "PCR;SEQ" "DNA" "" "" "0000147298" "00146443" "1" "02354" "02354" "2015-05-06 12:48:58" "00006" "2015-05-29 15:09:24" "SEQ-NG-IT" "DNA" "" "" "0000147299" "00146444" "1" "02353" "02353" "2016-01-27 10:07:22" "00006" "2016-03-16 16:19:22" "SEQ" "DNA" "" "" "0000150137" "00149281" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150138" "00149282" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150139" "00149283" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150140" "00149284" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150141" "00149285" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150142" "00149286" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150143" "00149287" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150144" "00149288" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150145" "00149289" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150146" "00149290" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150147" "00149291" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150148" "00149292" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150149" "00149293" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150150" "00149294" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150151" "00149295" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150152" "00149296" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150153" "00149297" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150154" "00149298" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150155" "00149299" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150156" "00149300" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150157" "00149301" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150158" "00149302" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150159" "00149303" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150160" "00149304" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150161" "00149305" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150162" "00149306" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150163" "00149307" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150215" "00149359" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150275" "00149419" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150276" "00149420" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150277" "00149421" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150278" "00149422" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150305" "00149449" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150476" "00149620" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150478" "00149622" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150479" "00149623" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150480" "00149624" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150481" "00149625" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150482" "00149626" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150483" "00149627" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150484" "00149628" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150485" "00149629" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150486" "00149630" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150487" "00149631" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150523" "00149667" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150948" "00150092" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150949" "00150093" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150950" "00150094" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150951" "00150095" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150952" "00150096" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150953" "00150097" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000150954" "00150098" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" "DNA" "" "" "0000223561" "00222490" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223612" "00222541" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223785" "00222714" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000223791" "00222720" "1" "00430" "00006" "2019-02-06 14:15:12" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted gene panel" "0000275455" "00274299" "1" "00006" "00006" "2019-12-28 16:38:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000275591" "00274432" "1" "00006" "00006" "2019-12-30 09:59:36" "" "" "SEQ;SEQ-NG" "DNA" "" "69-gene panel muscular disorder" "0000290306" "00289136" "1" "00006" "00006" "2020-03-01 11:31:09" "" "" "SEQ;SEQ-NG" "DNA" "" "MyoCap 180 myopathy gene panel" "0000296716" "00295546" "1" "01164" "01164" "2020-03-18 10:47:32" "" "" "SEQ-NG-S" "DNA" "" "" "0000302509" "00301388" "1" "01164" "01164" "2020-05-15 11:15:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000315691" "00314518" "1" "00006" "00006" "2020-10-12 14:24:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000377333" "00376137" "1" "01164" "01164" "2021-06-17 12:35:26" "" "" "SEQ-NG-I" "DNA" "" "" "0000400267" "00399022" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" "0000400326" "00399081" "1" "00006" "00006" "2022-01-15 16:40:49" "" "" "SEQ;SEQ-NG" "DNA" "" "166-gene panel" "0000403658" "00402417" "1" "01929" "01929" "2022-02-06 05:30:15" "01929" "2022-02-08 01:42:58" "SEQ-NG-I" "DNA" "saliva" "123 NM disease NGS panel" "0000409945" "00408683" "1" "00006" "00006" "2022-04-25 19:53:26" "" "" "SEQ-NG" "DNA" "" "" "0000414403" "00413133" "1" "00006" "00006" "2022-07-11 16:33:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000417807" "00416525" "1" "01929" "01929" "2022-09-05 03:34:05" "" "" "SEQ-NG-I" "DNA" "Blood" "169 genes NGS panel" "0000442053" "00440568" "1" "00006" "00006" "2023-11-04 13:48:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442054" "00440569" "1" "00006" "00006" "2023-11-04 13:48:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442055" "00440570" "1" "00006" "00006" "2023-11-04 13:48:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442056" "00440571" "1" "00006" "00006" "2023-11-04 13:48:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442057" "00440572" "1" "00006" "00006" "2023-11-04 13:48:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442058" "00440573" "1" "00006" "00006" "2023-11-04 13:48:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442059" "00440574" "1" "00006" "00006" "2023-11-04 13:48:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442060" "00440575" "1" "00006" "00006" "2023-11-04 13:48:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442061" "00440576" "1" "00006" "00006" "2023-11-04 13:48:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442062" "00440577" "1" "00006" "00006" "2023-11-04 13:48:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442063" "00440578" "1" "00006" "00006" "2023-11-04 13:48:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442064" "00440579" "1" "00006" "00006" "2023-11-04 13:48:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442065" "00440580" "1" "00006" "00006" "2023-11-04 13:48:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444186" "00442702" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000444251" "00442767" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000444297" "00442813" "1" "00006" "00006" "2023-11-23 18:48:51" "" "" "SEQ-NG" "DNA" "" "WES" "0000449262" "00447685" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 82 "{{screeningid}}" "{{geneid}}" "0000002924" "VCP" "0000078720" "VCP" "0000105695" "VCP" "0000147278" "VCP" "0000147279" "VCP" "0000147280" "VCP" "0000147281" "VCP" "0000147282" "VCP" "0000147283" "VCP" "0000147284" "VCP" "0000147285" "VCP" "0000147286" "VCP" "0000147287" "VCP" "0000147288" "VCP" "0000147289" "VCP" "0000147290" "VCP" "0000147291" "VCP" "0000147292" "VCP" "0000147293" "VCP" "0000147294" "VCP" "0000147295" "VCP" "0000147296" "VCP" "0000147297" "VCP" "0000147298" "VCP" "0000147299" "VCP" "0000150137" "VCP" "0000150138" "VCP" "0000150139" "VCP" "0000150140" "VCP" "0000150141" "VCP" "0000150142" "VCP" "0000150143" "VCP" "0000150144" "VCP" "0000150145" "VCP" "0000150146" "VCP" "0000150147" "VCP" "0000150148" "VCP" "0000150149" "VCP" "0000150150" "VCP" "0000150151" "VCP" "0000150152" "VCP" "0000150153" "VCP" "0000150154" "VCP" "0000150155" "VCP" "0000150156" "VCP" "0000150157" "VCP" "0000150158" "VCP" "0000150159" "VCP" "0000150160" "VCP" "0000150161" "VCP" "0000150162" "VCP" "0000150163" "VCP" "0000150215" "VCP" "0000150275" "VCP" "0000150276" "VCP" "0000150277" "VCP" "0000150278" "VCP" "0000150305" "VCP" "0000150476" "VCP" "0000150478" "VCP" "0000150479" "VCP" "0000150480" "VCP" "0000150481" "VCP" "0000150482" "VCP" "0000150483" "VCP" "0000150484" "VCP" "0000150485" "VCP" "0000150486" "VCP" "0000150487" "VCP" "0000150523" "VCP" "0000150948" "VCP" "0000150949" "VCP" "0000150950" "VCP" "0000150951" "VCP" "0000150952" "VCP" "0000150953" "VCP" "0000150954" "VCP" "0000275455" "VCP" "0000275591" "VCP" "0000290306" "VCP" "0000315691" "VCP" "0000377333" "VCP" ## 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 = 252 "{{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}}" "0000021298" "11" "70" "9" "35067912" "35067912" "subst" "8.12143E-6" "00130" "VCP_000012" "g.35067912C>T" "" "{PMID:Neveling 2013:24123792}, {PMID:van de Warrenburg 2016:27165006}, {DOI:van de Warrenburg 2016: 10.1038/ejhg.2016.42}" "" "" "de novo occurrence testing, unaffected father" "Germline" "" "" "0" "" "" "g.35067915C>T" "" "likely pathogenic" "" "0000125822" "1" "90" "9" "35060820" "35060820" "subst" "1.21818E-5" "01604" "VCP_000014" "g.35060820C>T" "" "{PMID:Hirano 2015:25457024}, {DOI:Hirano 2015:10.1016/j.neurobiolaging.2014.10.012}" "" "" "" "Germline" "" "" "0" "" "" "g.35060823C>T" "" "pathogenic" "" "0000171152" "11" "70" "9" "35066734" "35066734" "subst" "0" "01257" "VCP_000013" "g.35066734C>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.35066737C>A" "" "likely pathogenic" "" "0000239956" "1" "90" "9" "35065360" "35065360" "subst" "0" "00006" "VCP_000001" "g.35065360C>T" "" "{PMID:Watts 2004:15034582}, {OMIM601023:0001}" "" "" "mapped by linkage, haplogroup-A; not in >180 control chromosomes" "Germline" "" "" "0" "" "" "g.35065363C>T" "" "pathogenic" "" "0000239957" "1" "90" "9" "35065360" "35065360" "subst" "0" "00006" "VCP_000001" "g.35065360C>T" "" "{PMID:Watts 2004:15034582}, {OMIM601023:0001}" "" "" "mapped by linkage, haplogroup-A; not in >180 control chromosomes" "Germline" "" "" "0" "" "" "g.35065363C>T" "" "pathogenic" "" "0000239958" "1" "90" "9" "35065360" "35065360" "subst" "0" "00006" "VCP_000001" "g.35065360C>T" "" "{PMID:Watts 2004:15034582}, {OMIM601023:0001}" "" "" "mapped by linkage, haplogroup-A; not in >180 control chromosomes" "Germline" "" "" "0" "" "" "g.35065363C>T" "" "pathogenic" "" "0000239959" "1" "90" "9" "35065360" "35065360" "subst" "0" "00006" "VCP_000001" "g.35065360C>T" "" "{PMID:Watts 2004:15034582}, {OMIM601023:0001}" "" "" "mapped by linkage, haplogroup-A; not in >180 control chromosomes" "Germline" "" "" "0" "" "" "g.35065363C>T" "" "pathogenic" "" "0000239960" "1" "90" "9" "35065361" "35065361" "subst" "0" "00006" "VCP_000002" "g.35065361G>A" "" "{PMID:Watts 2004:15034582}, {OMIM601023:0002}" "" "" "mapped by linkage, haplogroup-B; not in >180 control chromosomes" "Germline" "" "" "0" "" "" "g.35065364G>A" "" "pathogenic" "" "0000239961" "1" "90" "9" "35065361" "35065361" "subst" "0" "00006" "VCP_000002" "g.35065361G>A" "" "{PMID:Watts 2004:15034582}, {OMIM601023:0002}" "" "" "mapped by linkage, haplogroup-B; not in >180 control chromosomes" "Germline" "" "" "0" "" "" "g.35065364G>A" "" "pathogenic" "" "0000239962" "1" "90" "9" "35065360" "35065360" "subst" "0" "00006" "VCP_000001" "g.35065360C>T" "" "{PMID:Watts 2004:15034582}, {OMIM601023:0001}" "" "" "not in >180 control chromosomes" "Germline" "" "" "0" "" "" "g.35065363C>T" "" "pathogenic" "" "0000239963" "1" "90" "9" "35064164" "35064164" "subst" "0" "00006" "VCP_000003" "g.35064164G>T" "" "{PMID:Watts 2004:15034582}, {OMIM601023:0003}" "MfeI-" "" "not in >180 control chromosomes" "Germline" "" "" "0" "" "" "g.35064167G>T" "" "pathogenic" "" "0000239964" "1" "90" "9" "35067907" "35067907" "subst" "0" "00006" "VCP_000004" "g.35067907G>C" "" "{PMID:Watts 2004:15034582}, {OMIM601023:0004}" "RsaI-" "" "not in >180 control chromosomes" "Germline" "" "" "0" "" "" "g.35067910G>C" "" "pathogenic" "" "0000239965" "1" "90" "9" "35065360" "35065360" "subst" "0" "00006" "VCP_000001" "g.35065360C>T" "" "{PMID:Watts 2004:15034582}, {OMIM601023:0001}" "" "" "not in >180 control chromosomes" "Germline" "" "" "0" "" "" "g.35065363C>T" "" "pathogenic" "" "0000239966" "1" "90" "9" "35065360" "35065360" "subst" "0" "00006" "VCP_000005" "g.35065360C>G" "" "{PMID:Watts 2004:15034582}, {OMIM601023:0005}" "" "" "not in >180 control chromosomes" "Germline" "" "" "0" "" "" "g.35065363C>G" "" "pathogenic" "" "0000239967" "1" "90" "9" "35065252" "35065252" "subst" "1.62427E-5" "00006" "VCP_000006" "g.35065252C>T" "" "{PMID:Watts 2004:15034582}, {OMIM601023:0006}" "" "" "not in >180 control chromosomes" "Germline" "" "" "0" "" "" "g.35065255C>T" "" "pathogenic" "" "0000239968" "1" "90" "9" "35065360" "35065360" "subst" "0" "00006" "VCP_000001" "g.35065360C>T" "" "{PMID:Watts 2004:15034582}, {OMIM601023:0001}" "" "" "not in >180 control chromosomes" "Germline" "" "" "0" "" "" "g.35065363C>T" "" "pathogenic" "" "0000239969" "1" "90" "9" "35065360" "35065360" "subst" "0" "00006" "VCP_000001" "g.35065360C>T" "" "{PMID:Viassolo 2008:18341608}, {OMIM601023:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.35065363C>T" "" "pathogenic" "" "0000239970" "1" "90" "9" "35065348" "35065348" "subst" "8.12143E-6" "00006" "VCP_000008" "g.35065348C>T" "" "{PMID:Haubenberger 2005:16247064}, {PMID:van der Zee 2009:19704082}, {OMIM601023:0007}" "" "688G>A" "not in 384 control chromosomes" "Germline" "" "" "0" "" "" "g.35065351C>T" "" "pathogenic" "" "0000239971" "1" "90" "9" "35065348" "35065348" "subst" "8.12143E-6" "00006" "VCP_000008" "g.35065348C>T" "" "{PMID:van der Zee 2009:19704082}, {OMIM601023:0007}" "" "" "not in 314 control chromosomes" "Germline" "" "" "0" "" "" "g.35065351C>T" "" "pathogenic" "" "0000239972" "1" "90" "9" "35065348" "35065348" "subst" "8.12143E-6" "00006" "VCP_000008" "g.35065348C>T" "" "{PMID:van der Zee 2009:19704082}, {OMIM601023:0007}" "" "" "not in 314 control chromosomes" "Germline" "" "" "0" "" "" "g.35065351C>T" "" "pathogenic" "" "0000239973" "0" "50" "9" "35066734" "35066734" "subst" "0" "00464" "VCP_000009" "g.35066734C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.35066737C>G" "" "VUS" "" "0000239974" "1" "90" "9" "35065252" "35065252" "subst" "1.62427E-5" "00464" "VCP_000006" "g.35065252C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.35065255C>T" "" "pathogenic" "" "0000239975" "1" "90" "9" "35065360" "35065360" "subst" "0" "00464" "VCP_000001" "g.35065360C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.35065363C>T" "" "pathogenic" "" "0000239976" "0" "90" "9" "35065373" "35065373" "subst" "0" "02354" "VCP_000010" "g.35065373T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.35065376T>C" "" "pathogenic" "" "0000239977" "0" "50" "9" "35066741" "35066741" "subst" "0" "02353" "VCP_000011" "g.35066741T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.35066744T>A" "" "VUS" "" "0000239978" "0" "90" "9" "35067907" "35067907" "subst" "0" "00006" "VCP_000004" "g.35067907G>C" "" "{PMID:Weihl 2006:16321991}, {OMIM601023:0004}" "" "" "expression cloning normal ATPase activity/hexameric structure, increased ubiquitin-conjugated proteins, increase diffuse/aggregated ubiquitin conjugates, impaired endoplasmic reticulum-associated degradation function, distorted ER structure" "In vitro (cloned)" "" "" "0" "" "" "g.35067910G>C" "" "NA" "" "0000239979" "0" "90" "9" "35065360" "35065360" "subst" "0" "00006" "VCP_000001" "g.35065360C>T" "" "{PMID:Weihl 2006:16321991}, {OMIM601023:0001}" "" "" "expression cloning normal ATPase activity/hexameric structure, increased ubiquitin-conjugated proteins, increase diffuse/aggregated ubiquitin conjugates, impaired endoplasmic reticulum-associated degradation function, distorted ER structure" "In vitro (cloned)" "" "" "0" "" "" "g.35065363C>T" "" "NA" "" "0000239980" "0" "90" "9" "35059762" "35059762" "subst" "0" "00006" "VCP_000007" "g.35059762C>G" "" "{PMID:Weihl 2006:16321991}" "" "" "expression cloning no ATPase activity" "In vitro (cloned)" "" "" "0" "" "" "g.35059765C>G" "" "NA" "" "0000243611" "0" "99" "9" "35067907" "35067907" "subst" "0" "02360" "VCP_000004" "g.35067907G>C" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.35067910G>C" "" "pathogenic" "" "0000243612" "0" "99" "9" "35065360" "35065360" "subst" "0" "02360" "VCP_000001" "g.35065360C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.35065363C>T" "" "pathogenic" "" "0000243613" "0" "99" "9" "35065360" "35065360" "subst" "0" "02360" "VCP_000001" "g.35065360C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.35065363C>T" "" "pathogenic" "" "0000243614" "0" "99" "9" "35065360" "35065360" "subst" "0" "02360" "VCP_000001" "g.35065360C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.35065363C>T" "" "pathogenic" "" "0000243615" "0" "99" "9" "35065360" "35065360" "subst" "0" "02360" "VCP_000001" "g.35065360C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.35065363C>T" "" "pathogenic" "" "0000243616" "0" "99" "9" "35065360" "35065360" "subst" "0" "02360" "VCP_000001" "g.35065360C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.35065363C>T" "" "pathogenic" "" "0000243617" "0" "99" "9" "35065360" "35065360" "subst" "0" "02360" "VCP_000001" "g.35065360C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.35065363C>T" "" "pathogenic" "" "0000243618" "0" "99" "9" "35065360" "35065360" "subst" "0" "02360" "VCP_000001" "g.35065360C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.35065363C>T" "" "pathogenic" "" "0000243619" "0" "99" "9" "35065360" "35065360" "subst" "0" "02360" "VCP_000001" "g.35065360C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.35065363C>T" "" "pathogenic" "" "0000243620" "0" "99" "9" "35065360" "35065360" "subst" "0" "02360" "VCP_000001" "g.35065360C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.35065363C>T" "" "pathogenic" "" "0000243621" "0" "99" "9" "35065360" "35065360" "subst" "0" "02360" "VCP_000001" "g.35065360C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.35065363C>T" "" "pathogenic" "" "0000243622" "0" "99" "9" "35065361" "35065361" "subst" "0" "02360" "VCP_000002" "g.35065361G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.35065364G>A" "" "pathogenic" "" "0000243623" "0" "99" "9" "35065361" "35065361" "subst" "0" "02360" "VCP_000002" "g.35065361G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.35065364G>A" "" "pathogenic" "" "0000243624" "0" "99" "9" "35065361" "35065361" "subst" "0" "02360" "VCP_000002" "g.35065361G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.35065364G>A" "" "pathogenic" "" "0000243625" "0" "99" "9" "35065361" "35065361" "subst" "0" "02360" "VCP_000002" "g.35065361G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.35065364G>A" "" "pathogenic" "" "0000243626" "0" "99" "9" "35065361" "35065361" "subst" "0" "02360" "VCP_000002" "g.35065361G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.35065364G>A" "" "pathogenic" "" "0000243627" "0" "99" "9" "35065361" "35065361" "subst" "0" "02360" "VCP_000002" "g.35065361G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.35065364G>A" "" "pathogenic" "" "0000243628" "0" "99" "9" "35065361" "35065361" "subst" "0" "02360" "VCP_000002" "g.35065361G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.35065364G>A" "" "pathogenic" "" "0000243629" "0" "99" "9" "35065361" "35065361" "subst" "0" "02360" "VCP_000002" "g.35065361G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.35065364G>A" "" "pathogenic" "" "0000243630" "0" "99" "9" "35065361" "35065361" "subst" "0" "02360" "VCP_000002" "g.35065361G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.35065364G>A" "" "pathogenic" "" "0000243631" "0" "99" "9" "35065361" "35065361" "subst" "0" "02360" "VCP_000002" "g.35065361G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.35065364G>A" "" "pathogenic" "" "0000243632" "0" "99" "9" "35065361" "35065361" "subst" "0" "02360" "VCP_000002" "g.35065361G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.35065364G>A" "" "pathogenic" "" "0000243633" "0" "99" "9" "35064164" "35064164" "subst" "0" "02360" "VCP_000003" "g.35064164G>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.35064167G>T" "" "pathogenic" "" "0000243634" "0" "99" "9" "35065252" "35065252" "subst" "1.62427E-5" "02360" "VCP_000006" "g.35065252C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.35065255C>T" "" "pathogenic" "" "0000243635" "0" "99" "9" "35065252" "35065252" "subst" "1.62427E-5" "02360" "VCP_000006" "g.35065252C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.35065255C>T" "" "pathogenic" "" "0000243636" "0" "99" "9" "35065252" "35065252" "subst" "1.62427E-5" "02360" "VCP_000006" "g.35065252C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.35065255C>T" "" "pathogenic" "" "0000243637" "0" "99" "9" "35065252" "35065252" "subst" "1.62427E-5" "02360" "VCP_000006" "g.35065252C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.35065255C>T" "" "pathogenic" "" "0000243638" "0" "99" "9" "35065360" "35065360" "subst" "0" "02360" "VCP_000005" "g.35065360C>G" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.35065363C>G" "" "pathogenic" "" "0000243639" "0" "99" "9" "35065348" "35065348" "subst" "8.12143E-6" "02360" "VCP_000008" "g.35065348C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.35065351C>T" "" "pathogenic" "" "0000243640" "0" "99" "9" "35065348" "35065348" "subst" "8.12143E-6" "02360" "VCP_000008" "g.35065348C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.35065351C>T" "" "pathogenic" "" "0000243641" "0" "99" "9" "35065348" "35065348" "subst" "8.12143E-6" "02360" "VCP_000008" "g.35065348C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.35065351C>T" "" "pathogenic" "" "0000243642" "0" "99" "9" "35065348" "35065348" "subst" "8.12143E-6" "02360" "VCP_000008" "g.35065348C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.35065351C>T" "" "pathogenic" "" "0000243643" "0" "99" "9" "35061609" "35061609" "subst" "0" "02360" "VCP_000017" "g.35061609T>G" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.35061612T>G" "" "pathogenic" "" "0000243644" "0" "99" "9" "35064266" "35064266" "subst" "0" "02360" "VCP_000019" "g.35064266A>C" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.35064269A>C" "" "pathogenic" "" "0000243645" "0" "99" "9" "35067913" "35067913" "subst" "0" "02360" "VCP_000027" "g.35067913G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.35067916G>A" "" "pathogenic" "" "0000243646" "0" "99" "9" "35067913" "35067913" "subst" "0" "02360" "VCP_000027" "g.35067913G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.35067916G>A" "" "pathogenic" "" "0000243647" "0" "99" "9" "35067913" "35067913" "subst" "0" "02360" "VCP_000027" "g.35067913G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.35067916G>A" "" "pathogenic" "" "0000243648" "0" "99" "9" "35065349" "35065349" "subst" "4.06114E-6" "02360" "VCP_000020" "g.35065349G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.35065352G>A" "" "pathogenic" "" "0000243649" "0" "99" "9" "35065349" "35065349" "subst" "4.06114E-6" "02360" "VCP_000020" "g.35065349G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.35065352G>A" "" "pathogenic" "" "0000243650" "0" "55" "9" "35067906" "35067906" "subst" "1.21823E-5" "02360" "VCP_000025" "g.35067906C>T" "" "" "" "" "Observed in 3 late-onset Alzheimer\'s disease patients sharing a chromosome 9 haplotype. /r/Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.35067909C>T" "" "VUS" "" "0000243651" "0" "55" "9" "35067906" "35067906" "subst" "1.21823E-5" "02360" "VCP_000025" "g.35067906C>T" "" "" "" "" "Observed in 3 late-onset Alzheimer\'s disease patients sharing a chromosome 9 haplotype. /r/Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.35067909C>T" "" "VUS" "" "0000243652" "0" "55" "9" "35067906" "35067906" "subst" "1.21823E-5" "02360" "VCP_000025" "g.35067906C>T" "" "" "" "" "Observed in 3 late-onset Alzheimer\'s disease patients sharing a chromosome 9 haplotype. /r/Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.35067909C>T" "" "VUS" "" "0000243717" "0" "99" "9" "35063002" "35063002" "subst" "0" "02360" "VCP_000018" "g.35063002T>C" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.35063005T>C" "" "pathogenic" "" "0000243718" "0" "99" "9" "35063002" "35063002" "subst" "0" "02360" "VCP_000018" "g.35063002T>C" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.35063005T>C" "" "pathogenic" "" "0000243738" "0" "99" "9" "35065355" "35065355" "subst" "0" "02360" "VCP_000021" "g.35065355C>G" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.35065358C>G" "" "pathogenic" "" "0000243739" "0" "99" "9" "35065355" "35065355" "subst" "0" "02360" "VCP_000021" "g.35065355C>G" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.35065358C>G" "" "pathogenic" "" "0000243925" "0" "99" "9" "35067907" "35067907" "subst" "4.06078E-6" "02360" "VCP_000026" "g.35067907G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.35067910G>A" "" "pathogenic" "" "0000243927" "0" "99" "9" "35065361" "35065361" "subst" "0" "02360" "VCP_000023" "g.35065361G>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.35065364G>T" "" "pathogenic" "" "0000243928" "0" "99" "9" "35066707" "35066707" "subst" "0" "02360" "VCP_000024" "g.35066707G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.35066710G>A" "" "pathogenic" "" "0000243929" "0" "99" "9" "35061056" "35061056" "subst" "0" "02360" "VCP_000015" "g.35061056C>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.35061059C>A" "" "pathogenic" "" "0000243954" "0" "55" "9" "35065360" "35065360" "subst" "0" "02360" "VCP_000022" "g.35065360C>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.35065363C>A" "" "VUS" "" "0000243960" "0" "99" "9" "35061056" "35061056" "subst" "0" "02360" "VCP_000016" "g.35061056C>G" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.35061059C>G" "" "pathogenic" "" "0000246840" "0" "30" "9" "35067956" "35067956" "subst" "4.06062E-6" "02330" "VCP_000051" "g.35067956A>G" "" "" "" "VCP(NM_007126.5):c.234T>C (p.S78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35067959A>G" "" "likely benign" "" "0000249974" "0" "30" "9" "35057129" "35057129" "subst" "0.000280269" "02329" "VCP_000030" "g.35057129A>G" "" "" "" "VCP(NM_007126.3):c.2406T>C (p.D802=), VCP(NM_007126.5):c.2406T>C (p.D802=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35057132A>G" "" "likely benign" "" "0000250297" "0" "30" "9" "35061589" "35061589" "subst" "2.43641E-5" "02329" "VCP_000038" "g.35061589A>G" "" "" "" "VCP(NM_007126.5):c.1179T>C (p.D393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35061592A>G" "" "likely benign" "" "0000250298" "0" "30" "9" "35062327" "35062327" "subst" "0.00029696" "02329" "VCP_000044" "g.35062327A>G" "" "" "" "VCP(NM_007126.3):c.832T>C (p.L278=), VCP(NM_007126.5):c.832T>C (p.L278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35062330A>G" "" "likely benign" "" "0000250447" "0" "30" "9" "35068364" "35068364" "subst" "0.0029368" "02329" "VCP_000054" "g.35068364A>G" "" "" "" "VCP(NM_007126.3):c.18-5T>C, VCP(NM_007126.5):c.18-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35068367A>G" "" "likely benign" "" "0000254065" "0" "30" "9" "35057129" "35057129" "subst" "0.000280269" "01943" "VCP_000030" "g.35057129A>G" "" "" "" "VCP(NM_007126.3):c.2406T>C (p.D802=), VCP(NM_007126.5):c.2406T>C (p.D802=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35057132A>G" "" "likely benign" "" "0000254227" "0" "30" "9" "35062099" "35062099" "subst" "0" "01943" "VCP_000043" "g.35062099A>G" "" "" "" "VCP(NM_007126.3):c.982T>C (p.L328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35062102A>G" "" "likely benign" "" "0000280726" "0" "10" "9" "35074917" "35074917" "subst" "0.402941" "02325" "FANCG_000070" "g.35074917T>C" "" "" "" "FANCG(NM_004629.2):c.1636+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35074920T>C" "" "benign" "" "0000282970" "0" "10" "9" "35075969" "35075969" "subst" "0.00767755" "02329" "FANCG_000073" "g.35075969G>A" "" "" "" "FANCG(NM_004629.1):c.1133C>T (p.(Ser378Leu)), FANCG(NM_004629.2):c.1133C>T (p.S378L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35075972G>A" "" "benign" "" "0000282971" "0" "30" "9" "35075738" "35075738" "subst" "0" "02329" "FANCG_000072" "g.35075738G>A" "" "" "" "FANCG(NM_004629.2):c.1157C>T (p.P386L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35075741G>A" "" "likely benign" "" "0000282972" "0" "10" "9" "35075022" "35075022" "subst" "0.00838139" "02329" "FANCG_000040" "g.35075022C>T" "" "" "" "FANCG(NM_004629.1):c.1538G>A (p.(Arg513Gln), p.R513Q), FANCG(NM_004629.2):c.1538G>A (p.R513Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35075025C>T" "" "benign" "" "0000282974" "0" "10" "9" "35076755" "35076755" "subst" "0.0151257" "02329" "FANCG_000038" "g.35076755G>A" "" "" "" "FANCG(NM_004629.1):c.890C>T (p.T297I), FANCG(NM_004629.2):c.890C>T (p.T297I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35076758G>A" "" "benign" "" "0000287095" "0" "30" "9" "35074973" "35074973" "subst" "0" "01943" "FANCG_000071" "g.35074973C>T" "" "" "" "FANCG(NM_004629.1):c.1587G>A (p.Q529=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35074976C>T" "" "likely benign" "" "0000311300" "0" "10" "9" "35057102" "35057102" "subst" "0.00104085" "02330" "VCP_000028" "g.35057102G>A" "" "" "" "VCP(NM_007126.5):c.*12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35057105G>A" "" "benign" "" "0000311301" "0" "30" "9" "35057110" "35057110" "subst" "0.000597328" "02330" "VCP_000029" "g.35057110C>A" "" "" "" "VCP(NM_007126.3):c.*4G>T, VCP(NM_007126.5):c.*4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35057113C>A" "" "likely benign" "" "0000311303" "0" "50" "9" "35061169" "35061169" "subst" "0.000353595" "02330" "VCP_000037" "g.35061169T>C" "" "" "" "VCP(NM_001354928.1):c.1067A>G (p.N356S), VCP(NM_007126.5):c.1202A>G (p.N401S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35061172T>C" "" "VUS" "" "0000311304" "0" "10" "9" "35060934" "35060934" "subst" "0.00295613" "02330" "VCP_000035" "g.35060934G>C" "" "" "" "VCP(NM_007126.3):c.1360-14C>G (p.(=)), VCP(NM_007126.5):c.1360-14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35060937G>C" "" "benign" "" "0000311305" "0" "10" "9" "35060421" "35060421" "subst" "0.000645649" "02330" "VCP_000034" "g.35060421G>A" "" "" "" "VCP(NM_007126.3):c.1584C>T (p.A528=), VCP(NM_007126.5):c.1584C>T (p.A528=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35060424G>A" "" "benign" "" "0000311306" "0" "10" "9" "35060302" "35060302" "subst" "0.592951" "02330" "VCP_000033" "g.35060302T>C" "" "" "" "VCP(NM_007126.3):c.1695+8A>G, VCP(NM_007126.5):c.1695+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35060305T>C" "" "benign" "" "0000311307" "0" "10" "9" "35062972" "35062972" "subst" "0.74654" "02330" "VCP_000045" "g.35062972C>T" "" "" "" "VCP(NM_007126.3):c.811+3G>A, VCP(NM_007126.5):c.811+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35062975C>T" "" "benign" "" "0000312991" "0" "10" "9" "35060302" "35060302" "subst" "0.592951" "02325" "VCP_000033" "g.35060302T>C" "" "" "" "VCP(NM_007126.3):c.1695+8A>G, VCP(NM_007126.5):c.1695+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35060305T>C" "" "benign" "" "0000312992" "0" "10" "9" "35062972" "35062972" "subst" "0.74654" "02325" "VCP_000045" "g.35062972C>T" "" "" "" "VCP(NM_007126.3):c.811+3G>A, VCP(NM_007126.5):c.811+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35062975C>T" "" "benign" "" "0000313629" "0" "30" "9" "35061983" "35061983" "subst" "0.00202653" "02329" "VCP_000042" "g.35061983G>A" "" "" "" "VCP(NM_001354928.2):c.946+17C>T, VCP(NM_007126.3):c.1081+17C>T (p.(=)), VCP(NM_007126.5):c.1081+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35061986G>A" "" "likely benign" "" "0000313632" "0" "30" "9" "35061676" "35061676" "subst" "0.00146724" "02329" "VCP_000039" "g.35061676G>A" "" "" "" "VCP(NM_007126.3):c.1092C>T (p.D364=), VCP(NM_007126.5):c.1092C>T (p.D364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35061679G>A" "" "likely benign" "" "0000313633" "0" "30" "9" "35061107" "35061107" "subst" "0" "02329" "VCP_000036" "g.35061107C>T" "" "" "" "VCP(NM_007126.5):c.1264G>A (p.A422T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35061110C>T" "" "likely benign" "" "0000313634" "0" "10" "9" "35060934" "35060934" "subst" "0.00295613" "02329" "VCP_000035" "g.35060934G>C" "" "" "" "VCP(NM_007126.3):c.1360-14C>G (p.(=)), VCP(NM_007126.5):c.1360-14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35060937G>C" "" "benign" "" "0000313635" "0" "10" "9" "35060302" "35060302" "subst" "0.592951" "02329" "VCP_000033" "g.35060302T>C" "" "" "" "VCP(NM_007126.3):c.1695+8A>G, VCP(NM_007126.5):c.1695+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35060305T>C" "" "benign" "" "0000313636" "0" "50" "9" "35059794" "35059794" "subst" "0" "02329" "VCP_000032" "g.35059794C>T" "" "" "" "VCP(NM_007126.5):c.1700G>A (p.R567H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35059797C>T" "" "VUS" "" "0000313637" "0" "30" "9" "35059790" "35059790" "subst" "0.0027154" "02329" "VCP_000031" "g.35059790T>C" "" "" "" "VCP(NM_007126.3):c.1704A>G (p.Q568=, p.(Gln568=)), VCP(NM_007126.5):c.1704A>G (p.Q568=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35059793T>C" "" "likely benign" "" "0000313638" "0" "10" "9" "35062972" "35062972" "subst" "0.74654" "02329" "VCP_000045" "g.35062972C>T" "" "" "" "VCP(NM_007126.3):c.811+3G>A, VCP(NM_007126.5):c.811+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35062975C>T" "" "benign" "" "0000313639" "0" "50" "9" "35068286" "35068286" "subst" "0" "02329" "VCP_000052" "g.35068286C>T" "" "" "" "VCP(NM_007126.5):c.91G>A (p.A31T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35068289C>T" "" "VUS" "" "0000315265" "0" "30" "9" "35057110" "35057110" "subst" "0.000597328" "02326" "VCP_000029" "g.35057110C>A" "" "" "" "VCP(NM_007126.3):c.*4G>T, VCP(NM_007126.5):c.*4G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35057113C>A" "" "likely benign" "" "0000315266" "0" "10" "9" "35060934" "35060934" "subst" "0.00295613" "02326" "VCP_000035" "g.35060934G>C" "" "" "" "VCP(NM_007126.3):c.1360-14C>G (p.(=)), VCP(NM_007126.5):c.1360-14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35060937G>C" "" "benign" "" "0000315267" "0" "10" "9" "35060421" "35060421" "subst" "0.000645649" "02326" "VCP_000034" "g.35060421G>A" "" "" "" "VCP(NM_007126.3):c.1584C>T (p.A528=), VCP(NM_007126.5):c.1584C>T (p.A528=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35060424G>A" "" "benign" "" "0000315268" "0" "10" "9" "35060302" "35060302" "subst" "0.592951" "02326" "VCP_000033" "g.35060302T>C" "" "" "" "VCP(NM_007126.3):c.1695+8A>G, VCP(NM_007126.5):c.1695+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35060305T>C" "" "benign" "" "0000315269" "0" "70" "9" "35067942" "35067942" "subst" "0" "02326" "VCP_000047" "g.35067942C>T" "" "" "" "VCP(NM_007126.3):c.248G>A (p.R83Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35067945C>T" "" "likely pathogenic" "" "0000315271" "0" "90" "9" "35065360" "35065360" "subst" "0" "02326" "VCP_000001" "g.35065360C>T" "" "" "" "VCP(NM_007126.3):c.464G>A (p.(Arg155His), p.R155H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35065363C>T" "" "pathogenic" "" "0000315272" "0" "70" "9" "35065348" "35065348" "subst" "8.12143E-6" "02326" "VCP_000008" "g.35065348C>T" "" "" "" "VCP(NM_007126.3):c.476G>A (p.R159H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35065351C>T" "" "likely pathogenic" "" "0000315273" "0" "10" "9" "35062972" "35062972" "subst" "0.74654" "02326" "VCP_000045" "g.35062972C>T" "" "" "" "VCP(NM_007126.3):c.811+3G>A, VCP(NM_007126.5):c.811+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35062975C>T" "" "benign" "" "0000319560" "0" "10" "9" "35060302" "35060302" "subst" "0.592951" "01943" "VCP_000033" "g.35060302T>C" "" "" "" "VCP(NM_007126.3):c.1695+8A>G, VCP(NM_007126.5):c.1695+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35060305T>C" "" "benign" "" "0000319561" "0" "50" "9" "35068298" "35068298" "subst" "0.00056443" "01943" "VCP_000053" "g.35068298T>C" "" "" "" "VCP(NM_007126.3):c.79A>G (p.I27V), VCP(NM_007126.5):c.79A>G (p.I27V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35068301T>C" "" "VUS" "" "0000319562" "0" "10" "9" "35062972" "35062972" "subst" "0.74654" "01943" "VCP_000045" "g.35062972C>T" "" "" "" "VCP(NM_007126.3):c.811+3G>A, VCP(NM_007126.5):c.811+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35062975C>T" "" "benign" "" "0000337835" "0" "10" "9" "35060302" "35060302" "subst" "0.592951" "02327" "VCP_000033" "g.35060302T>C" "" "" "" "VCP(NM_007126.3):c.1695+8A>G, VCP(NM_007126.5):c.1695+8A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35060305T>C" "" "benign" "" "0000337836" "0" "10" "9" "35062972" "35062972" "subst" "0.74654" "02327" "VCP_000045" "g.35062972C>T" "" "" "" "VCP(NM_007126.3):c.811+3G>A, VCP(NM_007126.5):c.811+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35062975C>T" "" "benign" "" "0000341989" "0" "90" "9" "35065360" "35065360" "subst" "0" "02327" "VCP_000001" "g.35065360C>T" "" "" "" "VCP(NM_007126.3):c.464G>A (p.(Arg155His), p.R155H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35065363C>T" "" "pathogenic" "" "0000342004" "0" "90" "9" "35065349" "35065349" "subst" "4.06114E-6" "02327" "VCP_000020" "g.35065349G>A" "" "" "" "VCP(NM_007126.3):c.475C>T (p.R159C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35065352G>A" "" "pathogenic" "" "0000342005" "0" "90" "9" "35065348" "35065348" "subst" "8.12143E-6" "02327" "VCP_000008" "g.35065348C>T" "" "" "" "VCP(NM_007126.3):c.476G>A (p.R159H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35065351C>T" "" "pathogenic" "" "0000343498" "0" "50" "9" "35067912" "35067912" "subst" "8.12143E-6" "02327" "VCP_000012" "g.35067912C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35067915C>T" "" "VUS" "" "0000346558" "0" "50" "9" "35066777" "35066777" "subst" "6.90299E-5" "02327" "VCP_000050" "g.35066777T>C" "" "" "" "VCP(NM_001354928.1):c.205A>G (p.I69V), VCP(NM_007126.3):c.340A>G (p.I114V, p.(Ile114Val)), VCP(NM_007126.5):c.340A>G (p.I114V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35066780T>C" "" "VUS" "" "0000347585" "0" "50" "9" "35060824" "35060824" "subst" "0" "02327" "VCP_000048" "g.35060824T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35060827T>C" "" "VUS" "" "0000349395" "0" "50" "9" "35063001" "35063001" "subst" "0" "02327" "VCP_000049" "g.35063001G>C" "" "" "" "VCP(NM_001354928.2):c.650C>G (p.T217S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35063004G>C" "" "VUS" "" "0000466819" "1" "90" "9" "35065348" "35065348" "subst" "8.12143E-6" "00430" "VCP_000008" "g.35065348C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.35065351C>T" "" "pathogenic" "" "0000466820" "1" "90" "9" "35065360" "35065360" "subst" "0" "00430" "VCP_000001" "g.35065360C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "no second variant" "Germline" "" "" "0" "" "" "g.35065363C>T" "" "pathogenic" "" "0000466821" "1" "90" "9" "35065252" "35065252" "subst" "1.62427E-5" "00430" "VCP_000006" "g.35065252C>T" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.35065255C>T" "" "pathogenic" "" "0000466822" "1" "50" "9" "35059100" "35059100" "subst" "0" "00430" "VCP_000055" "g.35059100A>C" "" "{PMID:Nallamilli 2018:30564623}" "" "" "" "Germline" "" "" "0" "" "" "g.35059103A>C" "" "VUS" "" "0000538052" "0" "30" "9" "35057474" "35057474" "subst" "0.00229761" "02329" "VCP_000056" "g.35057474T>C" "" "" "" "VCP(NM_007126.5):c.2214A>G (p.E738=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35057477T>C" "" "likely benign" "" "0000538053" "0" "30" "9" "35059053" "35059053" "subst" "0.000109739" "01943" "VCP_000057" "g.35059053A>C" "" "" "" "VCP(NM_007126.3):c.2160+8T>G, VCP(NM_007126.5):c.2160+8T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35059056A>C" "" "likely benign" "" "0000538054" "0" "30" "9" "35059089" "35059089" "subst" "8.12275E-6" "01943" "VCP_000058" "g.35059089C>T" "" "" "" "VCP(NM_007126.3):c.2132G>A (p.R711Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35059092C>T" "" "likely benign" "" "0000538055" "0" "30" "9" "35059112" "35059112" "subst" "1.62429E-5" "01943" "VCP_000059" "g.35059112G>A" "" "" "" "VCP(NM_007126.3):c.2109C>T (p.I703=), VCP(NM_007126.5):c.2109C>T (p.I703=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35059115G>A" "" "likely benign" "" "0000538056" "0" "30" "9" "35059112" "35059112" "subst" "1.62429E-5" "02329" "VCP_000059" "g.35059112G>A" "" "" "" "VCP(NM_007126.3):c.2109C>T (p.I703=), VCP(NM_007126.5):c.2109C>T (p.I703=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35059115G>A" "" "likely benign" "" "0000538057" "0" "10" "9" "35059655" "35059655" "dup" "0" "02330" "VCP_000060" "g.35059655dup" "" "" "" "VCP(NM_007126.5):c.1847dupA (p.N616Kfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35059658dup" "" "benign" "" "0000538058" "0" "10" "9" "35059790" "35059790" "subst" "0.0027154" "02330" "VCP_000031" "g.35059790T>C" "" "" "" "VCP(NM_007126.3):c.1704A>G (p.Q568=, p.(Gln568=)), VCP(NM_007126.5):c.1704A>G (p.Q568=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35059793T>C" "" "benign" "" "0000538059" "0" "30" "9" "35059790" "35059790" "subst" "0.0027154" "01943" "VCP_000031" "g.35059790T>C" "" "" "" "VCP(NM_007126.3):c.1704A>G (p.Q568=, p.(Gln568=)), VCP(NM_007126.5):c.1704A>G (p.Q568=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35059793T>C" "" "likely benign" "" "0000538060" "0" "30" "9" "35060421" "35060421" "subst" "0.000645649" "01943" "VCP_000034" "g.35060421G>A" "" "" "" "VCP(NM_007126.3):c.1584C>T (p.A528=), VCP(NM_007126.5):c.1584C>T (p.A528=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35060424G>A" "" "likely benign" "" "0000538061" "0" "30" "9" "35061129" "35061129" "subst" "4.06395E-5" "02329" "VCP_000061" "g.35061129C>T" "" "" "" "VCP(NM_001354928.2):c.1107G>A (p.L369=), VCP(NM_007126.5):c.1242G>A (p.L414=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35061132C>T" "" "likely benign" "" "0000538062" "0" "10" "9" "35061676" "35061676" "subst" "0.00146724" "01943" "VCP_000039" "g.35061676G>A" "" "" "" "VCP(NM_007126.3):c.1092C>T (p.D364=), VCP(NM_007126.5):c.1092C>T (p.D364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35061679G>A" "" "benign" "" "0000538063" "0" "30" "9" "35061695" "35061695" "subst" "0.00138488" "01943" "VCP_000062" "g.35061695C>A" "" "" "" "VCP(NM_001354928.2):c.947-9G>T, VCP(NM_007126.3):c.1082-9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35061698C>A" "" "likely benign" "" "0000538064" "0" "10" "9" "35061697" "35061707" "dup" "0" "02330" "VCP_000063" "g.35061697_35061707dup" "" "" "" "VCP(NM_007126.3):c.1082-18_1082-8dupTTGTGTACTGT, VCP(NM_007126.5):c.1082-18_1082-8dupTTGTGTACTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35061700_35061710dup" "" "benign" "" "0000538065" "0" "10" "9" "35061697" "35061707" "dup" "0" "01943" "VCP_000063" "g.35061697_35061707dup" "" "" "" "VCP(NM_007126.3):c.1082-18_1082-8dupTTGTGTACTGT, VCP(NM_007126.5):c.1082-18_1082-8dupTTGTGTACTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35061700_35061710dup" "" "benign" "" "0000538066" "0" "10" "9" "35061697" "35061707" "dup" "0" "02325" "VCP_000063" "g.35061697_35061707dup" "" "" "" "VCP(NM_007126.3):c.1082-18_1082-8dupTTGTGTACTGT, VCP(NM_007126.5):c.1082-18_1082-8dupTTGTGTACTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35061700_35061710dup" "" "benign" "" "0000538067" "0" "10" "9" "35061697" "35061707" "dup" "0" "02329" "VCP_000063" "g.35061697_35061707dup" "" "" "" "VCP(NM_007126.3):c.1082-18_1082-8dupTTGTGTACTGT, VCP(NM_007126.5):c.1082-18_1082-8dupTTGTGTACTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35061700_35061710dup" "" "benign" "" "0000538068" "0" "30" "9" "35061707" "35061708" "ins" "0" "02329" "VCP_000064" "g.35061707_35061708insGTATACAAACA" "" "" "" "VCP(NM_007126.5):c.1082-15_1082-14insATACTGTTTGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35061710_35061711insGTATACAAACA" "" "likely benign" "" "0000538069" "0" "30" "9" "35061983" "35061983" "subst" "0.00202653" "02326" "VCP_000042" "g.35061983G>A" "" "" "" "VCP(NM_001354928.2):c.946+17C>T, VCP(NM_007126.3):c.1081+17C>T (p.(=)), VCP(NM_007126.5):c.1081+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35061986G>A" "" "likely benign" "" "0000538070" "0" "90" "9" "35065349" "35065349" "subst" "4.06114E-6" "02326" "VCP_000020" "g.35065349G>A" "" "" "" "VCP(NM_007126.3):c.475C>T (p.R159C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35065352G>A" "" "pathogenic" "" "0000538071" "0" "30" "9" "35065395" "35065395" "subst" "4.06306E-6" "02330" "VCP_000065" "g.35065395T>C" "" "" "" "VCP(NM_007126.3):c.446-17A>G, VCP(NM_007126.5):c.446-17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35065398T>C" "" "likely benign" "" "0000538072" "0" "30" "9" "35066592" "35066592" "dup" "0" "02326" "VCP_000066" "g.35066592dup" "" "" "" "VCP(NM_007126.3):c.445+92dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35066595dup" "" "likely benign" "" "0000538073" "0" "90" "9" "35066707" "35066707" "subst" "0" "02327" "VCP_000024" "g.35066707G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35066710G>A" "" "pathogenic" "" "0000538074" "0" "50" "9" "35066777" "35066777" "subst" "6.90299E-5" "02330" "VCP_000050" "g.35066777T>C" "" "" "" "VCP(NM_001354928.1):c.205A>G (p.I69V), VCP(NM_007126.3):c.340A>G (p.I114V, p.(Ile114Val)), VCP(NM_007126.5):c.340A>G (p.I114V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35066780T>C" "" "VUS" "" "0000538075" "0" "30" "9" "35066777" "35066777" "subst" "6.90299E-5" "01943" "VCP_000050" "g.35066777T>C" "" "" "" "VCP(NM_001354928.1):c.205A>G (p.I69V), VCP(NM_007126.3):c.340A>G (p.I114V, p.(Ile114Val)), VCP(NM_007126.5):c.340A>G (p.I114V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35066780T>C" "" "likely benign" "" "0000538076" "0" "10" "9" "35068364" "35068364" "subst" "0.0029368" "02330" "VCP_000054" "g.35068364A>G" "" "" "" "VCP(NM_007126.3):c.18-5T>C, VCP(NM_007126.5):c.18-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35068367A>G" "" "benign" "" "0000538077" "0" "30" "9" "35075022" "35075022" "subst" "0.00838139" "01804" "FANCG_000040" "g.35075022C>T" "" "" "" "FANCG(NM_004629.1):c.1538G>A (p.(Arg513Gln), p.R513Q), FANCG(NM_004629.2):c.1538G>A (p.R513Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35075025C>T" "" "likely benign" "" "0000538078" "0" "10" "9" "35076517" "35076517" "subst" "0.00138878" "02329" "FANCG_000075" "g.35076517G>A" "" "" "" "FANCG(NM_004629.1):c.988C>T (p.P330S), FANCG(NM_004629.2):c.988C>T (p.P330S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35076520G>A" "" "benign" "" "0000612097" "0" "30" "9" "35059607" "35059607" "subst" "1.21822E-5" "02329" "VCP_000067" "g.35059607A>G" "" "" "" "VCP(NM_007126.5):c.1887T>C (p.I629=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35059610A>G" "" "likely benign" "" "0000612098" "0" "30" "9" "35059790" "35059790" "subst" "0.0027154" "02326" "VCP_000031" "g.35059790T>C" "" "" "" "VCP(NM_007126.3):c.1704A>G (p.Q568=, p.(Gln568=)), VCP(NM_007126.5):c.1704A>G (p.Q568=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35059793T>C" "" "likely benign" "" "0000612099" "0" "30" "9" "35064135" "35064135" "subst" "4.06144E-6" "02326" "VCP_000070" "g.35064135A>C" "" "" "" "VCP(NM_007126.3):c.708+16T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35064138A>C" "" "likely benign" "" "0000612100" "0" "30" "9" "35065395" "35065395" "subst" "4.06306E-6" "02326" "VCP_000065" "g.35065395T>C" "" "" "" "VCP(NM_007126.3):c.446-17A>G, VCP(NM_007126.5):c.446-17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35065398T>C" "" "likely benign" "" "0000612101" "0" "30" "9" "35068298" "35068298" "subst" "0.00056443" "02330" "VCP_000053" "g.35068298T>C" "" "" "" "VCP(NM_007126.3):c.79A>G (p.I27V), VCP(NM_007126.5):c.79A>G (p.I27V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35068301T>C" "" "likely benign" "" "0000612102" "0" "30" "9" "35077292" "35077292" "subst" "2.03029E-5" "01943" "FANCG_000076" "g.35077292A>C" "" "" "" "FANCG(NM_004629.1):c.615T>G (p.D205E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35077295A>C" "" "likely benign" "" "0000622261" "0" "50" "9" "35061053" "35061053" "subst" "0" "02330" "VCP_000068" "g.35061053C>T" "" "" "" "VCP(NM_001354928.2):c.1183G>A (p.E395K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35061056C>T" "" "VUS" "" "0000622262" "0" "30" "9" "35061191" "35061191" "subst" "8.13405E-6" "02329" "VCP_000069" "g.35061191C>G" "" "" "" "VCP(NM_007126.3):c.1195-15G>C (p.(=)), VCP(NM_007126.5):c.1195-15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35061194C>G" "" "likely benign" "" "0000629462" "1" "90" "9" "35065252" "35065252" "subst" "1.62427E-5" "00006" "VCP_000006" "g.35065252C>T" "" "{PMID:Reddy 2017:27708273}" "" "" "" "Germline" "" "rs121909334" "0" "" "" "g.35065255C>T" "" "pathogenic (dominant)" "" "0000629653" "1" "70" "9" "35065361" "35065361" "subst" "0" "00006" "VCP_000002" "g.35065361G>A" "1/209 cases" "{PMID:Park 2017:27363342}" "" "" "" "Germline" "" "" "0" "" "" "g.35065364G>A" "" "likely pathogenic" "" "0000646956" "0" "90" "9" "35067913" "35067913" "subst" "0" "00006" "VCP_000027" "g.35067913G>A" "" "{PMID:Evilä 2016:26627873}" "" "" "" "Germline" "" "" "0" "" "" "g.35067916G>A" "" "pathogenic (dominant)" "" "0000653413" "0" "50" "9" "35057498" "35057498" "subst" "8.17708E-6" "01164" "VCP_000071" "g.35057498C>A" "" "" "" "" "" "Germline" "" "rs373800909" "0" "" "" "g.35057501C>A" "" "VUS" "ACMG" "0000656348" "0" "30" "9" "35059053" "35059053" "subst" "0.000109739" "02329" "VCP_000057" "g.35059053A>C" "" "" "" "VCP(NM_007126.3):c.2160+8T>G, VCP(NM_007126.5):c.2160+8T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35059056A>C" "" "likely benign" "" "0000656349" "0" "30" "9" "35066706" "35066706" "subst" "0" "02329" "VCP_000072" "g.35066706C>G" "" "" "" "VCP(NM_007126.5):c.411G>C (p.P137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35066709C>G" "" "likely benign" "" "0000665798" "0" "70" "9" "35067913" "35067913" "subst" "0" "01164" "VCP_000027" "g.35067913G>A" "" "" "" "" "ACMG grading: PS3,PS4,PM2,PP3; age at diagnosis: 35y; Cali et al. 1991. J 226: 7779; Grupta et al. 2007. Metabolism 56: 1248; Smalley et al. 2015. Genet 38: 30" "Germline" "" "" "0" "" "" "g.35067916G>A" "" "likely pathogenic" "ACMG" "0000678666" "0" "30" "9" "35061695" "35061695" "subst" "0.00138488" "02326" "VCP_000062" "g.35061695C>A" "" "" "" "VCP(NM_001354928.2):c.947-9G>T, VCP(NM_007126.3):c.1082-9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678667" "0" "30" "9" "35075969" "35075969" "subst" "0.00767755" "01804" "FANCG_000073" "g.35075969G>A" "" "" "" "FANCG(NM_004629.1):c.1133C>T (p.(Ser378Leu)), FANCG(NM_004629.2):c.1133C>T (p.S378L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690531" "0" "30" "9" "35064295" "35064295" "subst" "0" "02330" "VCP_000073" "g.35064295G>T" "" "" "" "VCP(NM_001354928.2):c.442-13C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000697780" "0" "70" "9" "35065348" "35065348" "subst" "8.12143E-6" "00006" "VCP_000008" "g.35065348C>T" "2/1001 cases" "{PMID:Topf 2020:32528171}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.35065351C>T" "" "likely pathogenic" "" "0000722504" "0" "10" "9" "35060421" "35060421" "subst" "0.000645649" "02329" "VCP_000034" "g.35060421G>A" "" "" "" "VCP(NM_007126.3):c.1584C>T (p.A528=), VCP(NM_007126.5):c.1584C>T (p.A528=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722505" "0" "50" "9" "35061169" "35061169" "subst" "0.000353595" "02329" "VCP_000037" "g.35061169T>C" "" "" "" "VCP(NM_001354928.1):c.1067A>G (p.N356S), VCP(NM_007126.5):c.1202A>G (p.N401S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722506" "0" "10" "9" "35061676" "35061676" "subst" "0.00146724" "02330" "VCP_000039" "g.35061676G>A" "" "" "" "VCP(NM_007126.3):c.1092C>T (p.D364=), VCP(NM_007126.5):c.1092C>T (p.D364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722507" "0" "50" "9" "35066777" "35066777" "subst" "6.90299E-5" "02329" "VCP_000050" "g.35066777T>C" "" "" "" "VCP(NM_001354928.1):c.205A>G (p.I69V), VCP(NM_007126.3):c.340A>G (p.I114V, p.(Ile114Val)), VCP(NM_007126.5):c.340A>G (p.I114V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722508" "0" "50" "9" "35067953" "35067953" "subst" "0" "02330" "VCP_000074" "g.35067953A>C" "" "" "" "VCP(NM_007126.5):c.237T>G (p.D79E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722509" "0" "10" "9" "35075022" "35075022" "subst" "0.00838139" "02326" "FANCG_000040" "g.35075022C>T" "" "" "" "FANCG(NM_004629.1):c.1538G>A (p.(Arg513Gln), p.R513Q), FANCG(NM_004629.2):c.1538G>A (p.R513Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000789643" "0" "50" "9" "35061662" "35061662" "subst" "0" "01164" "VCP_000075" "g.35061662A>G" "" "" "" "" "ACMG: PM2_SUP, PP1, PP2, PP3; co-segregation in similar affected brother" "Germline" "yes" "" "" "" "" "" "" "VUS (!)" "ACMG" "0000804111" "0" "30" "9" "35057531" "35057531" "subst" "4.15856E-6" "01943" "VCP_000076" "g.35057531T>C" "" "" "" "VCP(NM_001354928.1):c.2026-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804112" "0" "50" "9" "35063019" "35063019" "subst" "0" "02327" "VCP_000077" "g.35063019C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804113" "0" "50" "9" "35066777" "35066777" "subst" "6.90299E-5" "01804" "VCP_000050" "g.35066777T>C" "" "" "" "VCP(NM_001354928.1):c.205A>G (p.I69V), VCP(NM_007126.3):c.340A>G (p.I114V, p.(Ile114Val)), VCP(NM_007126.5):c.340A>G (p.I114V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000827950" "0" "90" "9" "35063002" "35063002" "subst" "0" "03779" "VCP_000018" "g.35063002T>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs1554668598" "0" "" "" "" "" "pathogenic" "" "0000833074" "1" "70" "9" "35061169" "35061169" "subst" "0.000353595" "00006" "VCP_000037" "g.35061169T>C" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.35061172T>C" "" "likely pathogenic" "" "0000833133" "1" "70" "9" "35063002" "35063002" "subst" "0" "00006" "VCP_000018" "g.35063002T>C" "" "{PMID:Gonzalez-Quereda 2020:32403337}" "" "" "" "Germline" "" "" "0" "" "" "g.35063005T>C" "" "likely pathogenic" "" "0000839174" "1" "90" "9" "35064211" "35064211" "subst" "0" "01929" "VCP_000078" "g.35064211T>C" "" "{PMID:Cerino 2022:35741838}" "" "" "ACMG PM2, PP3, PP4_mod" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000847161" "0" "90" "9" "35065360" "35065360" "subst" "0" "00006" "VCP_000001" "g.35065360C>T" "" "{PMID:Thomas 2022:34085946}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.35065363C>T" "" "pathogenic" "" "0000852262" "0" "10" "9" "35061983" "35061983" "subst" "0.00202653" "02330" "VCP_000042" "g.35061983G>A" "" "" "" "VCP(NM_001354928.2):c.946+17C>T, VCP(NM_007126.3):c.1081+17C>T (p.(=)), VCP(NM_007126.5):c.1081+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852263" "0" "10" "9" "35068364" "35068364" "subst" "0.0029368" "02326" "VCP_000054" "g.35068364A>G" "" "" "" "VCP(NM_007126.3):c.18-5T>C, VCP(NM_007126.5):c.18-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861635" "0" "50" "9" "35057138" "35057138" "subst" "0" "02329" "VCP_000079" "g.35057138G>C" "" "" "" "VCP(NM_001354928.1):c.2262C>G (p.D754E), VCP(NM_007126.3):c.2397C>G (p.(Asp799Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861636" "0" "10" "9" "35076517" "35076517" "subst" "0.00138878" "02326" "FANCG_000075" "g.35076517G>A" "" "" "" "FANCG(NM_004629.1):c.988C>T (p.P330S), FANCG(NM_004629.2):c.988C>T (p.P330S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861637" "0" "10" "9" "35076755" "35076755" "subst" "0.0151257" "02326" "FANCG_000038" "g.35076755G>A" "" "" "" "FANCG(NM_004629.1):c.890C>T (p.T297I), FANCG(NM_004629.2):c.890C>T (p.T297I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000872054" "1" "70" "9" "35065361" "35065361" "subst" "0" "00006" "VCP_000002" "g.35065361G>A" "" "{PMID:Cerino 2022:35741838}" "" "" "ACMG PM1, PM2, PM5, PP3, PP4_mod" "Germline" "" "" "0" "" "" "g.35065364G>A" "" "likely pathogenic" "ACMG" "0000877539" "0" "50" "9" "35064211" "35064211" "subst" "0" "01929" "VCP_000078" "g.35064211T>C" "" "" "" "" "ACMG PM2, PP3, PP4_mod" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000888827" "0" "70" "9" "35063001" "35063001" "subst" "0" "02329" "VCP_000049" "g.35063001G>C" "" "" "" "VCP(NM_001354928.2):c.650C>G (p.T217S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000888828" "0" "90" "9" "35077267" "35077273" "del" "0" "02327" "FANCG_000037" "g.35077267_35077273del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000913152" "0" "10" "9" "35060934" "35060934" "subst" "0.00295613" "01804" "VCP_000035" "g.35060934G>C" "" "" "" "VCP(NM_007126.3):c.1360-14C>G (p.(=)), VCP(NM_007126.5):c.1360-14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913153" "0" "30" "9" "35061676" "35061676" "subst" "0.00146724" "02326" "VCP_000039" "g.35061676G>A" "" "" "" "VCP(NM_007126.3):c.1092C>T (p.D364=), VCP(NM_007126.5):c.1092C>T (p.D364=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913154" "0" "10" "9" "35061695" "35061695" "subst" "0.00138488" "02330" "VCP_000062" "g.35061695C>A" "" "" "" "VCP(NM_001354928.2):c.947-9G>T, VCP(NM_007126.3):c.1082-9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913155" "0" "30" "9" "35075560" "35075560" "subst" "2.03032E-5" "02326" "FANCG_000080" "g.35075560C>T" "" "" "" "FANCG(NM_004629.1):c.1335G>A (p.L445=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925039" "0" "30" "9" "35057545" "35057545" "subst" "0" "01804" "VCP_000080" "g.35057545A>C" "" "" "" "VCP(NM_007126.3):c.2161-18T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925040" "0" "30" "9" "35061129" "35061129" "subst" "4.06395E-5" "02330" "VCP_000061" "g.35061129C>T" "" "" "" "VCP(NM_001354928.2):c.1107G>A (p.L369=), VCP(NM_007126.5):c.1242G>A (p.L414=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929597" "0" "10" "9" "35060746" "35060746" "subst" "0" "02326" "VCP_000081" "g.35060746A>G" "" "" "" "VCP(NM_007126.3):c.1482+52T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929598" "0" "10" "9" "35060955" "35060955" "subst" "0.748343" "02326" "VCP_000082" "g.35060955T>C" "" "" "" "VCP(NM_007126.3):c.1360-35A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929599" "0" "30" "9" "35062327" "35062327" "subst" "0.00029696" "02326" "VCP_000044" "g.35062327A>G" "" "" "" "VCP(NM_007126.3):c.832T>C (p.L278=), VCP(NM_007126.5):c.832T>C (p.L278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000940015" "0" "50" "9" "35067925" "35067925" "del" "0" "00006" "VCP_000095" "g.35067925del" "" "{PMID:Mah-Som 2023:37883978}" "" "" "" "De novo" "" "" "0" "" "" "g.35067928del" "" "VUS" "ACMG" "0000940016" "0" "50" "9" "35064174" "35064174" "subst" "0" "00006" "VCP_000094" "g.35064174G>A" "" "{PMID:Mah-Som 2023:37883978}" "" "" "" "De novo" "" "" "0" "" "" "g.35064177G>A" "" "VUS" "ACMG" "0000940017" "0" "50" "9" "35063079" "35063079" "subst" "0" "00006" "VCP_000093" "g.35063079T>C" "" "{PMID:Mah-Som 2023:37883978}" "" "" "" "De novo" "" "" "0" "" "" "g.35063082T>C" "" "VUS" "ACMG" "0000940018" "0" "70" "9" "35063033" "35063033" "subst" "0" "00006" "VCP_000092" "g.35063033C>A" "" "{PMID:Mah-Som 2023:37883978}" "" "" "" "De novo" "" "" "0" "" "" "g.35063036C>A" "" "likely pathogenic (dominant)" "ACMG" "0000940019" "0" "70" "9" "35063020" "35063020" "subst" "0" "00006" "VCP_000091" "g.35063020G>C" "" "{PMID:Mah-Som 2023:37883978}" "" "" "" "De novo" "" "" "0" "" "" "g.35063023G>C" "" "likely pathogenic (dominant)" "ACMG" "0000940020" "0" "50" "9" "35062992" "35062994" "del" "0" "00006" "VCP_000090" "g.35062992_35062994del" "" "{PMID:Mah-Som 2023:37883978}" "" "" "" "De novo" "" "" "0" "" "" "g.35062995_35062997del" "" "VUS" "ACMG" "0000940021" "0" "70" "9" "35062347" "35062347" "subst" "0" "00006" "VCP_000083" "g.35062347C>T" "" "{PMID:Mah-Som 2023:37883978}" "" "" "" "De novo" "" "" "0" "" "" "g.35062350C>T" "" "likely pathogenic (dominant)" "ACMG" "0000940022" "0" "50" "9" "35062260" "35062262" "del" "0" "00006" "VCP_000088" "g.35062260_35062262del" "" "{PMID:Mah-Som 2023:37883978}" "" "" "" "De novo" "" "" "0" "" "" "g.35062263_35062265del" "" "VUS" "ACMG" "0000940023" "0" "70" "9" "35061684" "35061684" "subst" "0" "00006" "VCP_000087" "g.35061684G>A" "" "{PMID:Mah-Som 2023:37883978}" "" "" "" "De novo" "" "" "0" "" "" "g.35061687G>A" "" "likely pathogenic (dominant)" "ACMG" "0000940024" "0" "70" "9" "35060383" "35060383" "subst" "0" "00006" "VCP_000086" "g.35060383G>T" "" "{PMID:Mah-Som 2023:37883978}" "" "" "" "De novo" "" "" "0" "" "" "g.35060386G>T" "" "likely pathogenic (dominant)" "ACMG" "0000940025" "0" "70" "9" "35059620" "35059620" "subst" "0" "00006" "VCP_000085" "g.35059620C>G" "" "{PMID:Mah-Som 2023:37883978}" "" "" "" "De novo" "" "" "0" "" "" "g.35059623C>G" "" "likely pathogenic (dominant)" "ACMG" "0000940026" "11" "50" "9" "35057431" "35057431" "subst" "0" "00006" "VCP_000084" "g.35057431G>A" "" "{PMID:Mah-Som 2023:37883978}" "" "" "" "Germline" "" "" "0" "" "" "g.35057434G>A" "" "VUS" "ACMG" "0000940027" "0" "50" "9" "35062267" "35062267" "subst" "0" "00006" "VCP_000089" "g.35062267G>A" "" "{PMID:Mah-Som 2023:37883978}" "" "" "" "De novo" "" "" "0" "" "" "g.35062270G>A" "" "VUS" "ACMG" "0000946043" "1" "90" "9" "35065361" "35065361" "subst" "0" "00006" "VCP_000002" "g.35065361G>A" "" "{PMID:Westra 2019:31127727}" "" "" "" "Germline" "" "" "0" "" "" "g.35065364G>A" "" "pathogenic (dominant)" "" "0000946107" "0" "50" "9" "35060824" "35060824" "subst" "0" "00006" "VCP_000048" "g.35060824T>C" "" "{PMID:Westra 2019:31127727}" "" "" "no segregation analysis" "Germline/De novo (untested)" "" "" "0" "" "" "g.35060827T>C" "" "VUS" "" "0000946153" "11" "30" "9" "35066777" "35066777" "subst" "6.90299E-5" "00006" "VCP_000050" "g.35066777T>C" "" "{PMID:Westra 2019:31127727}" "" "" "present in healthy father and grandfather" "Germline" "" "" "0" "" "" "g.35066780T>C" "" "likely benign" "" "0000959457" "0" "50" "9" "35066752" "35066752" "subst" "0" "00006" "VCP_000096" "g.35066752G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.35066755G>A" "" "VUS" "ACMG" "0000965401" "0" "30" "9" "35062232" "35062232" "subst" "0.00055237" "01804" "VCP_000097" "g.35062232G>A" "" "" "" "VCP(NM_007126.3):c.927C>T (p.(Ile309=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978685" "0" "50" "9" "35068002" "35068002" "subst" "0" "01804" "VCP_000098" "g.35068002T>C" "" "" "" "VCP(NM_007126.5):c.188A>G (p.(Lys63Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978686" "0" "50" "9" "35077022" "35077023" "dup" "0" "01804" "FANCG_000083" "g.35077022_35077023dup" "" "" "" "FANCG(NM_004629.2):c.723_724dup (p.(Arg242HisfsTer33))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997848" "0" "30" "9" "35057138" "35057138" "subst" "0" "01804" "VCP_000079" "g.35057138G>C" "" "" "" "VCP(NM_001354928.1):c.2262C>G (p.D754E), VCP(NM_007126.3):c.2397C>G (p.(Asp799Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997849" "0" "30" "9" "35061191" "35061191" "subst" "8.13405E-6" "01804" "VCP_000069" "g.35061191C>G" "" "" "" "VCP(NM_007126.3):c.1195-15G>C (p.(=)), VCP(NM_007126.5):c.1195-15G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997850" "0" "30" "9" "35061571" "35061571" "subst" "0.0002071" "01804" "VCP_000099" "g.35061571C>T" "" "" "" "VCP(NM_007126.3):c.1194+3G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997851" "0" "50" "9" "35062296" "35062296" "subst" "0" "01804" "VCP_000100" "g.35062296T>C" "" "" "" "VCP(NM_007126.3):c.863A>G (p.(Lys288Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997852" "0" "90" "9" "35065360" "35065360" "subst" "0" "01804" "VCP_000001" "g.35065360C>T" "" "" "" "VCP(NM_007126.3):c.464G>A (p.(Arg155His), p.R155H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014536" "0" "50" "9" "35066775" "35066775" "subst" "0" "02330" "VCP_000101" "g.35066775G>C" "" "" "" "VCP(NM_007126.5):c.342C>G (p.I114M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014537" "0" "10" "9" "35077267" "35077267" "subst" "0.000665947" "02329" "FANCG_000085" "g.35077267G>A" "" "" "" "FANCG(NM_004629.2):c.640C>T (p.R214C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001025668" "0" "30" "9" "35059790" "35059790" "subst" "0.0027154" "01804" "VCP_000031" "g.35059790T>C" "" "" "" "VCP(NM_007126.3):c.1704A>G (p.Q568=, p.(Gln568=)), VCP(NM_007126.5):c.1704A>G (p.Q568=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025669" "0" "50" "9" "35072710" "35072710" "subst" "0" "02326" "FANCG_000086" "g.35072710C>G" "" "" "" "VCP(NM_007126.3):c.-360G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025670" "0" "50" "9" "35076764" "35076764" "subst" "0.00014618" "02325" "FANCG_000087" "g.35076764C>T" "" "" "" "FANCG(NM_004629.2):c.881G>A (p.G294E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037503" "0" "30" "9" "35059095" "35059095" "subst" "4.06105E-6" "02326" "VCP_000102" "g.35059095C>T" "" "" "" "VCP(NM_007126.3):c.2126G>A (p.R709Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037504" "0" "10" "9" "35060780" "35060780" "subst" "7.30935E-5" "02330" "VCP_000103" "g.35060780T>C" "" "" "" "VCP(NM_001354928.2):c.1347+18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001037505" "0" "50" "9" "35061594" "35061594" "subst" "0" "01804" "VCP_000104" "g.35061594C>T" "" "" "" "VCP(NM_007126.5):c.1174G>A (p.(Asp392Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037506" "0" "30" "9" "35066817" "35066817" "subst" "0" "01804" "VCP_000105" "g.35066817G>A" "" "" "" "VCP(NM_007126.5):c.303-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037507" "0" "50" "9" "35067957" "35067957" "subst" "0" "01804" "VCP_000106" "g.35067957G>C" "" "" "" "VCP(NM_007126.5):c.233C>G (p.(Ser78Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053241" "0" "30" "9" "35061568" "35061568" "subst" "4.06081E-6" "01804" "VCP_000107" "g.35061568C>T" "" "" "" "VCP(NM_007126.5):c.1194+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053242" "0" "10" "9" "35061983" "35061983" "subst" "0.00202653" "01804" "VCP_000042" "g.35061983G>A" "" "" "" "VCP(NM_001354928.2):c.946+17C>T, VCP(NM_007126.3):c.1081+17C>T (p.(=)), VCP(NM_007126.5):c.1081+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001053243" "0" "30" "9" "35072136" "35072136" "subst" "0" "01804" "FANCG_000088" "g.35072136A>C" "" "" "" "VCP(NM_001354928.2):c.-501T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 VCP ## Count = 252 "{{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}}" "0000021298" "00022574" "70" "278" "0" "278" "0" "c.278G>A" "r.(?)" "p.(Arg93His)" "3" "0000125822" "00022574" "90" "1460" "0" "1460" "0" "c.1460G>A" "r.(?)" "p.(Arg487His)" "12" "0000171152" "00022574" "70" "383" "0" "383" "0" "c.383G>T" "r.(?)" "p.(Gly128Val)" "4" "0000239956" "00022574" "90" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Arg155His)" "5" "0000239957" "00022574" "90" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Arg155His)" "5" "0000239958" "00022574" "90" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Arg155His)" "5" "0000239959" "00022574" "90" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Arg155His)" "5" "0000239960" "00022574" "90" "463" "0" "463" "0" "c.463C>T" "r.(?)" "p.(Arg155Cys)" "5" "0000239961" "00022574" "90" "463" "0" "463" "0" "c.463C>T" "r.(?)" "p.(Arg155Cys)" "5" "0000239962" "00022574" "90" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Arg155His)" "5" "0000239963" "00022574" "90" "695" "0" "695" "0" "c.695C>A" "r.(?)" "p.(Ala232Glu)" "6" "0000239964" "00022574" "90" "283" "0" "283" "0" "c.283C>G" "r.(?)" "p.(Arg95Gly)" "3" "0000239965" "00022574" "90" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Arg155His)" "5" "0000239966" "00022574" "90" "464" "0" "464" "0" "c.464G>C" "r.(?)" "p.(Arg155Pro)" "5" "0000239967" "00022574" "90" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Arg191Gln)" "5" "0000239968" "00022574" "90" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Arg155His)" "5" "0000239969" "00022574" "90" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Arg155His)" "5" "0000239970" "00022574" "90" "476" "0" "476" "0" "c.476G>A" "r.(?)" "p.(Arg159His)" "5" "0000239971" "00022574" "90" "476" "0" "476" "0" "c.476G>A" "r.(?)" "p.(Arg159His)" "5" "0000239972" "00022574" "90" "476" "0" "476" "0" "c.476G>A" "r.(?)" "p.(Arg159His)" "5" "0000239973" "00022574" "50" "383" "0" "383" "0" "c.383G>C" "r.(?)" "p.(Gly128Ala)" "4" "0000239974" "00022574" "90" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Arg191Gln)" "5" "0000239975" "00022574" "90" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Arg155His)" "5" "0000239976" "00022574" "90" "451" "0" "451" "0" "c.451A>G" "r.(?)" "p.(Ile151Val)" "5" "0000239977" "00022574" "50" "376" "0" "376" "0" "c.376A>T" "r.(?)" "p.(Ile126Phe)" "4" "0000239978" "00022574" "90" "283" "0" "283" "0" "c.283C>G" "r.283c>g" "p.Arg95Gly" "3" "0000239979" "00022574" "90" "464" "0" "464" "0" "c.464G>A" "r.464g>a" "p.Arg155His" "5" "0000239980" "00022574" "90" "1732" "0" "1732" "0" "c.1732G>C" "r.1732g>c" "p.Glu578Gln" "14" "0000243611" "00022574" "99" "283" "0" "283" "0" "c.(283C>G)" "r.(?)" "p.(Arg95Gly)" "3" "0000243612" "00022574" "99" "464" "0" "464" "0" "c.(464G>A)" "r.(?)" "p.(Arg155His)" "5" "0000243613" "00022574" "99" "464" "0" "464" "0" "c.(464G>A)" "r.(?)" "p.(Arg155His)" "5" "0000243614" "00022574" "99" "464" "0" "464" "0" "c.(464G>A)" "r.(?)" "p.(Arg155His)" "5" "0000243615" "00022574" "99" "464" "0" "464" "0" "c.(464G>A)" "r.(?)" "p.(Arg155His)" "5" "0000243616" "00022574" "99" "464" "0" "464" "0" "c.(464G>A)" "r.(?)" "p.(Arg155His)" "5" "0000243617" "00022574" "99" "464" "0" "464" "0" "c.(464G>A)" "r.(?)" "p.(Arg155His)" "5" "0000243618" "00022574" "99" "464" "0" "464" "0" "c.(464G>A)" "r.(?)" "p.(Arg155His)" "5" "0000243619" "00022574" "99" "464" "0" "464" "0" "c.(464G>A)" "r.(?)" "p.(Arg155His)" "5" "0000243620" "00022574" "99" "464" "0" "464" "0" "c.(464G>A)" "r.(?)" "p.(Arg155His)" "5" "0000243621" "00022574" "99" "464" "0" "464" "0" "c.(464G>A)" "r.(?)" "p.(Arg155His)" "5" "0000243622" "00022574" "99" "463" "0" "463" "0" "c.(463C>T)" "r.(?)" "p.(Arg155Cys)" "5" "0000243623" "00022574" "99" "463" "0" "463" "0" "c.(463C>T)" "r.(?)" "p.(Arg155Cys)" "5" "0000243624" "00022574" "99" "463" "0" "463" "0" "c.(463C>T)" "r.(?)" "p.(Arg155Cys)" "5" "0000243625" "00022574" "99" "463" "0" "463" "0" "c.(463C>T)" "r.(?)" "p.(Arg155Cys)" "5" "0000243626" "00022574" "99" "463" "0" "463" "0" "c.(463C>T)" "r.(?)" "p.(Arg155Cys)" "5" "0000243627" "00022574" "99" "463" "0" "463" "0" "c.(463C>T)" "r.(?)" "p.(Arg155Cys)" "5" "0000243628" "00022574" "99" "463" "0" "463" "0" "c.(463C>T)" "r.(?)" "p.(Arg155Cys)" "5" "0000243629" "00022574" "99" "463" "0" "463" "0" "c.(463C>T)" "r.(?)" "p.(Arg155Cys)" "5" "0000243630" "00022574" "99" "463" "0" "463" "0" "c.(463C>T)" "r.(?)" "p.(Arg155Cys)" "5" "0000243631" "00022574" "99" "463" "0" "463" "0" "c.(463C>T)" "r.(?)" "p.(Arg155Cys)" "5" "0000243632" "00022574" "99" "463" "0" "463" "0" "c.(463C>T)" "r.(?)" "p.(Arg155Cys)" "5" "0000243633" "00022574" "99" "695" "0" "695" "0" "c.(695C>A)" "r.(?)" "p.(Ala232Glu)" "6" "0000243634" "00022574" "99" "572" "0" "572" "0" "c.(572G>A)" "r.(?)" "p.(Arg191Gln)" "5" "0000243635" "00022574" "99" "572" "0" "572" "0" "c.(572G>A)" "r.(?)" "p.(Arg191Gln)" "5" "0000243636" "00022574" "99" "572" "0" "572" "0" "c.(572G>A)" "r.(?)" "p.(Arg191Gln)" "5" "0000243637" "00022574" "99" "572" "0" "572" "0" "c.(572G>A)" "r.(?)" "p.(Arg191Gln)" "5" "0000243638" "00022574" "99" "464" "0" "464" "0" "c.(464G>C)" "r.(?)" "p.(Arg155Pro)" "5" "0000243639" "00022574" "99" "476" "0" "476" "0" "c.(476G>A)" "r.(?)" "p.(Arg159His)" "5" "0000243640" "00022574" "99" "476" "0" "476" "0" "c.(476G>A)" "r.(?)" "p.(Arg159His)" "5" "0000243641" "00022574" "99" "476" "0" "476" "0" "c.(476G>A)" "r.(?)" "p.(Arg159His)" "5" "0000243642" "00022574" "99" "476" "0" "476" "0" "c.(476G>A)" "r.(?)" "p.(Arg159His)" "5" "0000243643" "00022574" "99" "1159" "0" "1159" "0" "c.(1159A>C)" "r.(?)" "p.(Asn387His)" "10" "0000243644" "00022574" "99" "593" "0" "593" "0" "c.593T>G" "r.(?)" "p.(Leu198Trp)" "6" "0000243645" "00022574" "99" "277" "0" "277" "0" "c.(277C>T)" "r.(?)" "p.(Arg93Cys)" "3" "0000243646" "00022574" "99" "277" "0" "277" "0" "c.(277C>T)" "r.(?)" "p.(Arg93Cys)" "3" "0000243647" "00022574" "99" "277" "0" "277" "0" "c.(277C>T)" "r.(?)" "p.(Arg93Cys)" "3" "0000243648" "00022574" "99" "475" "0" "475" "0" "c.(475C>T)" "r.(?)" "p.(Arg159Cys)" "5" "0000243649" "00022574" "99" "475" "0" "475" "0" "c.(475C>T)" "r.(?)" "p.(Arg159Cys)" "5" "0000243650" "00022574" "55" "284" "0" "284" "0" "c.(284G>A)" "r.(?)" "p.(Arg95His)" "3" "0000243651" "00022574" "55" "284" "0" "284" "0" "c.(284G>A)" "r.(?)" "p.(Arg95His)" "3" "0000243652" "00022574" "55" "284" "0" "284" "0" "c.(284G>A)" "r.(?)" "p.(Arg95His)" "3" "0000243717" "00022574" "99" "784" "0" "784" "0" "c.(784A>G)" "r.(?)" "p.(Thr262Ala)" "7" "0000243718" "00022574" "99" "784" "0" "784" "0" "c.(784A>G)" "r.(?)" "p.(Thr262Ala)" "7" "0000243738" "00022574" "99" "469" "0" "469" "0" "c.(469G>C)" "r.(?)" "p.(Gly157Arg)" "5" "0000243739" "00022574" "99" "469" "0" "469" "0" "c.(469G>C)" "r.(?)" "p.(Gly157Arg)" "5" "0000243925" "00022574" "99" "283" "0" "283" "0" "c.(283C>T)" "r.(?)" "p.(Arg95Cys)" "3" "0000243927" "00022574" "99" "463" "0" "463" "0" "c.(463C>A)" "r.(?)" "p.(Arg155Ser)" "5" "0000243928" "00022574" "99" "410" "0" "410" "0" "c.410C>T" "r.(?)" "p.(Pro137Leu)" "4" "0000243929" "00022574" "99" "1315" "0" "1315" "0" "c.(1315G>T)" "r.(?)" "p.(Ala439Ser)" "11" "0000243954" "00022574" "55" "464" "0" "464" "0" "c.464G>T" "r.(?)" "p.(Arg155Leu)" "5" "0000243960" "00022574" "99" "1315" "0" "1315" "0" "c.(1315G>C)" "r.(?)" "p.(Ala439Pro)" "11" "0000246840" "00022574" "30" "234" "0" "234" "0" "c.234T>C" "r.(?)" "p.(Ser78=)" "" "0000249974" "00022574" "30" "2406" "0" "2406" "0" "c.2406T>C" "r.(?)" "p.(Asp802=)" "" "0000250297" "00022574" "30" "1179" "0" "1179" "0" "c.1179T>C" "r.(?)" "p.(Asp393=)" "" "0000250298" "00022574" "30" "832" "0" "832" "0" "c.832T>C" "r.(?)" "p.(Leu278=)" "" "0000250447" "00022574" "30" "18" "-5" "18" "-5" "c.18-5T>C" "r.spl?" "p.?" "" "0000254065" "00022574" "30" "2406" "0" "2406" "0" "c.2406T>C" "r.(?)" "p.(Asp802=)" "" "0000254227" "00022574" "30" "982" "0" "982" "0" "c.982T>C" "r.(?)" "p.(Leu328=)" "" "0000280726" "00022574" "10" "-2567" "0" "-2567" "0" "c.-2567A>G" "r.(?)" "p.(=)" "" "0000282970" "00022574" "10" "-3619" "0" "-3619" "0" "c.-3619C>T" "r.(?)" "p.(=)" "" "0000282971" "00022574" "30" "-3388" "0" "-3388" "0" "c.-3388C>T" "r.(?)" "p.(=)" "" "0000282972" "00022574" "10" "-2672" "0" "-2672" "0" "c.-2672G>A" "r.(?)" "p.(=)" "" "0000282974" "00022574" "10" "-4405" "0" "-4405" "0" "c.-4405C>T" "r.(?)" "p.(=)" "" "0000287095" "00022574" "30" "-2623" "0" "-2623" "0" "c.-2623G>A" "r.(?)" "p.(=)" "" "0000311300" "00022574" "10" "2433" "0" "2433" "0" "c.*12C>T" "r.(=)" "p.(=)" "" "0000311301" "00022574" "30" "2425" "0" "2425" "0" "c.*4G>T" "r.(=)" "p.(=)" "" "0000311303" "00022574" "50" "1202" "0" "1202" "0" "c.1202A>G" "r.(?)" "p.(Asn401Ser)" "" "0000311304" "00022574" "10" "1360" "-14" "1360" "-14" "c.1360-14C>G" "r.(=)" "p.(=)" "" "0000311305" "00022574" "10" "1584" "0" "1584" "0" "c.1584C>T" "r.(?)" "p.(Ala528=)" "" "0000311306" "00022574" "10" "1695" "8" "1695" "8" "c.1695+8A>G" "r.(=)" "p.(=)" "" "0000311307" "00022574" "10" "811" "3" "811" "3" "c.811+3G>A" "r.spl?" "p.?" "" "0000312991" "00022574" "10" "1695" "8" "1695" "8" "c.1695+8A>G" "r.(=)" "p.(=)" "" "0000312992" "00022574" "10" "811" "3" "811" "3" "c.811+3G>A" "r.spl?" "p.?" "" "0000313629" "00022574" "30" "1081" "17" "1081" "17" "c.1081+17C>T" "r.(=)" "p.(=)" "" "0000313632" "00022574" "30" "1092" "0" "1092" "0" "c.1092C>T" "r.(?)" "p.(Asp364=)" "" "0000313633" "00022574" "30" "1264" "0" "1264" "0" "c.1264G>A" "r.(?)" "p.(Ala422Thr)" "" "0000313634" "00022574" "10" "1360" "-14" "1360" "-14" "c.1360-14C>G" "r.(=)" "p.(=)" "" "0000313635" "00022574" "10" "1695" "8" "1695" "8" "c.1695+8A>G" "r.(=)" "p.(=)" "" "0000313636" "00022574" "50" "1700" "0" "1700" "0" "c.1700G>A" "r.(?)" "p.(Arg567His)" "" "0000313637" "00022574" "30" "1704" "0" "1704" "0" "c.1704A>G" "r.(?)" "p.(Gln568=)" "" "0000313638" "00022574" "10" "811" "3" "811" "3" "c.811+3G>A" "r.spl?" "p.?" "" "0000313639" "00022574" "50" "91" "0" "91" "0" "c.91G>A" "r.(?)" "p.(Ala31Thr)" "" "0000315265" "00022574" "30" "2425" "0" "2425" "0" "c.*4G>T" "r.(=)" "p.(=)" "" "0000315266" "00022574" "10" "1360" "-14" "1360" "-14" "c.1360-14C>G" "r.(=)" "p.(=)" "" "0000315267" "00022574" "10" "1584" "0" "1584" "0" "c.1584C>T" "r.(?)" "p.(Ala528=)" "" "0000315268" "00022574" "10" "1695" "8" "1695" "8" "c.1695+8A>G" "r.(=)" "p.(=)" "" "0000315269" "00022574" "70" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Arg83Gln)" "" "0000315271" "00022574" "90" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Arg155His)" "" "0000315272" "00022574" "70" "476" "0" "476" "0" "c.476G>A" "r.(?)" "p.(Arg159His)" "" "0000315273" "00022574" "10" "811" "3" "811" "3" "c.811+3G>A" "r.spl?" "p.?" "" "0000319560" "00022574" "10" "1695" "8" "1695" "8" "c.1695+8A>G" "r.(=)" "p.(=)" "" "0000319561" "00022574" "50" "79" "0" "79" "0" "c.79A>G" "r.(?)" "p.(Ile27Val)" "" "0000319562" "00022574" "10" "811" "3" "811" "3" "c.811+3G>A" "r.spl?" "p.?" "" "0000337835" "00022574" "10" "1695" "8" "1695" "8" "c.1695+8A>G" "r.(=)" "p.(=)" "" "0000337836" "00022574" "10" "811" "3" "811" "3" "c.811+3G>A" "r.spl?" "p.?" "" "0000341989" "00022574" "90" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Arg155His)" "" "0000342004" "00022574" "90" "475" "0" "475" "0" "c.475C>T" "r.(?)" "p.(Arg159Cys)" "" "0000342005" "00022574" "90" "476" "0" "476" "0" "c.476G>A" "r.(?)" "p.(Arg159His)" "" "0000343498" "00022574" "50" "278" "0" "278" "0" "c.278G>A" "r.(?)" "p.(Arg93His)" "" "0000346558" "00022574" "50" "340" "0" "340" "0" "c.340A>G" "r.(?)" "p.(Ile114Val)" "" "0000347585" "00022574" "50" "1456" "0" "1456" "0" "c.1456A>G" "r.(?)" "p.(Lys486Glu)" "" "0000349395" "00022574" "50" "785" "0" "785" "0" "c.785C>G" "r.(?)" "p.(Thr262Ser)" "" "0000466819" "00022574" "90" "476" "0" "476" "0" "c.476G>A" "r.(?)" "p.(Arg159His)" "5" "0000466820" "00022574" "90" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Arg155His)" "5" "0000466821" "00022574" "90" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Arg191Gln)" "5" "0000466822" "00022574" "50" "2121" "0" "2121" "0" "c.2121T>G" "r.(?)" "p.(Ile707Met)" "15" "0000538052" "00022574" "30" "2214" "0" "2214" "0" "c.2214A>G" "r.(?)" "p.(Glu738=)" "" "0000538053" "00022574" "30" "2160" "8" "2160" "8" "c.2160+8T>G" "r.(=)" "p.(=)" "" "0000538054" "00022574" "30" "2132" "0" "2132" "0" "c.2132G>A" "r.(?)" "p.(Arg711Gln)" "" "0000538055" "00022574" "30" "2109" "0" "2109" "0" "c.2109C>T" "r.(?)" "p.(Ile703=)" "" "0000538056" "00022574" "30" "2109" "0" "2109" "0" "c.2109C>T" "r.(?)" "p.(Ile703=)" "" "0000538057" "00022574" "10" "1847" "0" "1847" "0" "c.1847dup" "r.(?)" "p.(Asn616LysfsTer12)" "" "0000538058" "00022574" "10" "1704" "0" "1704" "0" "c.1704A>G" "r.(?)" "p.(Gln568=)" "" "0000538059" "00022574" "30" "1704" "0" "1704" "0" "c.1704A>G" "r.(?)" "p.(Gln568=)" "" "0000538060" "00022574" "30" "1584" "0" "1584" "0" "c.1584C>T" "r.(?)" "p.(Ala528=)" "" "0000538061" "00022574" "30" "1242" "0" "1242" "0" "c.1242G>A" "r.(?)" "p.(Leu414=)" "" "0000538062" "00022574" "10" "1092" "0" "1092" "0" "c.1092C>T" "r.(?)" "p.(Asp364=)" "" "0000538063" "00022574" "30" "1082" "-9" "1082" "-9" "c.1082-9G>T" "r.(=)" "p.(=)" "" "0000538064" "00022574" "10" "1082" "-18" "1082" "-8" "c.1082-18_1082-8dup" "r.(=)" "p.(=)" "" "0000538065" "00022574" "10" "1082" "-18" "1082" "-8" "c.1082-18_1082-8dup" "r.(=)" "p.(=)" "" "0000538066" "00022574" "10" "1082" "-18" "1082" "-8" "c.1082-18_1082-8dup" "r.(=)" "p.(=)" "" "0000538067" "00022574" "10" "1082" "-18" "1082" "-8" "c.1082-18_1082-8dup" "r.(=)" "p.(=)" "" "0000538068" "00022574" "30" "1082" "-15" "1082" "-14" "c.1082-15_1082-14insATACTGTTTGT" "r.(=)" "p.(=)" "" "0000538069" "00022574" "30" "1081" "17" "1081" "17" "c.1081+17C>T" "r.(=)" "p.(=)" "" "0000538070" "00022574" "90" "475" "0" "475" "0" "c.475C>T" "r.(?)" "p.(Arg159Cys)" "" "0000538071" "00022574" "30" "446" "-17" "446" "-17" "c.446-17A>G" "r.(=)" "p.(=)" "" "0000538072" "00022574" "30" "445" "92" "445" "92" "c.445+92dup" "r.(=)" "p.(=)" "" "0000538073" "00022574" "90" "410" "0" "410" "0" "c.410C>T" "r.(?)" "p.(Pro137Leu)" "" "0000538074" "00022574" "50" "340" "0" "340" "0" "c.340A>G" "r.(?)" "p.(Ile114Val)" "" "0000538075" "00022574" "30" "340" "0" "340" "0" "c.340A>G" "r.(?)" "p.(Ile114Val)" "" "0000538076" "00022574" "10" "18" "-5" "18" "-5" "c.18-5T>C" "r.spl?" "p.?" "" "0000538077" "00022574" "30" "-2672" "0" "-2672" "0" "c.-2672G>A" "r.(?)" "p.(=)" "" "0000538078" "00022574" "10" "-4167" "0" "-4167" "0" "c.-4167C>T" "r.(?)" "p.(=)" "" "0000612097" "00022574" "30" "1887" "0" "1887" "0" "c.1887T>C" "r.(?)" "p.(Ile629=)" "" "0000612098" "00022574" "30" "1704" "0" "1704" "0" "c.1704A>G" "r.(?)" "p.(Gln568=)" "" "0000612099" "00022574" "30" "708" "16" "708" "16" "c.708+16T>G" "r.(=)" "p.(=)" "" "0000612100" "00022574" "30" "446" "-17" "446" "-17" "c.446-17A>G" "r.(=)" "p.(=)" "" "0000612101" "00022574" "30" "79" "0" "79" "0" "c.79A>G" "r.(?)" "p.(Ile27Val)" "" "0000612102" "00022574" "30" "-4942" "0" "-4942" "0" "c.-4942T>G" "r.(?)" "p.(=)" "" "0000622261" "00022574" "50" "1318" "0" "1318" "0" "c.1318G>A" "r.(?)" "p.(Glu440Lys)" "" "0000622262" "00022574" "30" "1195" "-15" "1195" "-15" "c.1195-15G>C" "r.(=)" "p.(=)" "" "0000629462" "00022574" "90" "572" "0" "572" "0" "c.572G>A" "r.(?)" "p.(Arg191Gln)" "" "0000629653" "00022574" "70" "463" "0" "463" "0" "c.463C>T" "r.(?)" "p.(Arg155Cys)" "" "0000646956" "00022574" "90" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Arg93Cys)" "3" "0000653413" "00022574" "50" "2190" "0" "2190" "0" "c.2190G>T" "r.(?)" "p.(Glu730Asp)" "" "0000656348" "00022574" "30" "2160" "8" "2160" "8" "c.2160+8T>G" "r.(=)" "p.(=)" "" "0000656349" "00022574" "30" "411" "0" "411" "0" "c.411G>C" "r.(?)" "p.(Pro137=)" "" "0000665798" "00022574" "70" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Arg93Cys)" "" "0000678666" "00022574" "30" "1082" "-9" "1082" "-9" "c.1082-9G>T" "r.(=)" "p.(=)" "" "0000678667" "00022574" "30" "-3619" "0" "-3619" "0" "c.-3619C>T" "r.(?)" "p.(=)" "" "0000690531" "00022574" "30" "577" "-13" "577" "-13" "c.577-13C>A" "r.(=)" "p.(=)" "" "0000697780" "00022574" "70" "476" "0" "476" "0" "c.476G>A" "r.(?)" "p.(Arg159His)" "" "0000722504" "00022574" "10" "1584" "0" "1584" "0" "c.1584C>T" "r.(?)" "p.(Ala528=)" "" "0000722505" "00022574" "50" "1202" "0" "1202" "0" "c.1202A>G" "r.(?)" "p.(Asn401Ser)" "" "0000722506" "00022574" "10" "1092" "0" "1092" "0" "c.1092C>T" "r.(?)" "p.(Asp364=)" "" "0000722507" "00022574" "50" "340" "0" "340" "0" "c.340A>G" "r.(?)" "p.(Ile114Val)" "" "0000722508" "00022574" "50" "237" "0" "237" "0" "c.237T>G" "r.(?)" "p.(Asp79Glu)" "" "0000722509" "00022574" "10" "-2672" "0" "-2672" "0" "c.-2672G>A" "r.(?)" "p.(=)" "" "0000789643" "00022574" "50" "1106" "0" "1106" "0" "c.1106T>C" "r.(?)" "p.(Ile369Thr)" "" "0000804111" "00022574" "30" "2161" "-4" "2161" "-4" "c.2161-4A>G" "r.spl?" "p.?" "" "0000804112" "00022574" "50" "767" "0" "767" "0" "c.767G>T" "r.(?)" "p.(Arg256Leu)" "" "0000804113" "00022574" "50" "340" "0" "340" "0" "c.340A>G" "r.(?)" "p.(Ile114Val)" "" "0000827950" "00022574" "90" "784" "0" "784" "0" "c.784A>G" "r.(?)" "p.(Thr262Ala)" "" "0000833074" "00022574" "70" "1202" "0" "1202" "0" "c.1202A>G" "r.(?)" "p.(Asn401Ser)" "" "0000833133" "00022574" "70" "784" "0" "784" "0" "c.784A>G" "r.(?)" "p.(Thr262Ala)" "" "0000839174" "00022574" "90" "648" "0" "648" "0" "c.648A>G" "r.(?)" "p.(Ile216Met)" "6" "0000847161" "00022574" "90" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Arg155His)" "" "0000852262" "00022574" "10" "1081" "17" "1081" "17" "c.1081+17C>T" "r.(=)" "p.(=)" "" "0000852263" "00022574" "10" "18" "-5" "18" "-5" "c.18-5T>C" "r.spl?" "p.?" "" "0000861635" "00022574" "50" "2397" "0" "2397" "0" "c.2397C>G" "r.(?)" "p.(Asp799Glu)" "" "0000861636" "00022574" "10" "-4167" "0" "-4167" "0" "c.-4167C>T" "r.(?)" "p.(=)" "" "0000861637" "00022574" "10" "-4405" "0" "-4405" "0" "c.-4405C>T" "r.(?)" "p.(=)" "" "0000872054" "00022574" "70" "463" "0" "463" "0" "c.463C>T" "r.(?)" "p.(Arg155Cys)" "5" "0000877539" "00022574" "50" "648" "0" "648" "0" "c.648A>G" "r.(?)" "p.(Ile216Met)" "6" "0000888827" "00022574" "70" "785" "0" "785" "0" "c.785C>G" "r.(?)" "p.(Thr262Ser)" "" "0000888828" "00022574" "90" "-4920" "0" "-4914" "0" "c.-4920_-4914del" "r.(?)" "p.(=)" "" "0000913152" "00022574" "10" "1360" "-14" "1360" "-14" "c.1360-14C>G" "r.(=)" "p.(=)" "" "0000913153" "00022574" "30" "1092" "0" "1092" "0" "c.1092C>T" "r.(?)" "p.(Asp364=)" "" "0000913154" "00022574" "10" "1082" "-9" "1082" "-9" "c.1082-9G>T" "r.(=)" "p.(=)" "" "0000913155" "00022574" "30" "-3210" "0" "-3210" "0" "c.-3210G>A" "r.(?)" "p.(=)" "" "0000925039" "00022574" "30" "2161" "-18" "2161" "-18" "c.2161-18T>G" "r.(=)" "p.(=)" "" "0000925040" "00022574" "30" "1242" "0" "1242" "0" "c.1242G>A" "r.(?)" "p.(Leu414=)" "" "0000929597" "00022574" "10" "1482" "52" "1482" "52" "c.1482+52T>C" "r.(=)" "p.(=)" "" "0000929598" "00022574" "10" "1360" "-35" "1360" "-35" "c.1360-35A>G" "r.(=)" "p.(=)" "" "0000929599" "00022574" "30" "832" "0" "832" "0" "c.832T>C" "r.(?)" "p.(Leu278=)" "" "0000940015" "00022574" "50" "265" "0" "265" "0" "c.265del" "r.(?)" "p.(Arg89GlyfsTer8)" "" "0000940016" "00022574" "50" "685" "0" "685" "0" "c.685C>T" "r.(?)" "p.(Leu229Phe)" "" "0000940017" "00022574" "50" "709" "-2" "709" "-2" "c.709-2A>G" "r.spl" "p.?" "" "0000940018" "00022574" "70" "753" "0" "753" "0" "c.753G>T" "r.(?)" "p.(Lys251Asn)" "" "0000940019" "00022574" "70" "766" "0" "766" "0" "c.766C>G" "r.(?)" "p.(Arg256Gly)" "" "0000940020" "00022574" "50" "801" "0" "803" "0" "c.801_803del" "r.(?)" "p.(Phe267del)" "" "0000940021" "00022574" "70" "812" "0" "812" "0" "c.812G>A" "r.spl?" "p.(Gly271Asp,?)" "" "0000940022" "00022574" "50" "901" "0" "903" "0" "c.901_903del" "r.(?)" "p.(Ile301del)" "" "0000940023" "00022574" "70" "1084" "0" "1084" "0" "c.1084C>T" "r.(?)" "p.(Arg362Cys)" "" "0000940024" "00022574" "70" "1622" "0" "1622" "0" "c.1622C>A" "r.(?)" "p.(Ser541Tyr)" "" "0000940025" "00022574" "70" "1874" "0" "1874" "0" "c.1874G>C" "r.(?)" "p.(Arg625Pro)" "" "0000940026" "00022574" "50" "2257" "0" "2257" "0" "c.2257C>T" "r.(?)" "p.(Arg753Trp)" "" "0000940027" "00022574" "50" "892" "0" "892" "0" "c.892C>T" "r.(?)" "p.(Pro298Ser)" "" "0000946043" "00022574" "90" "463" "0" "463" "0" "c.463C>T" "r.(?)" "p.(Arg155Cys)" "" "0000946107" "00022574" "50" "1456" "0" "1456" "0" "c.1456A>G" "r.(?)" "p.(Lys486Glu)" "" "0000946153" "00022574" "30" "340" "0" "340" "0" "c.340A>G" "r.(?)" "p.(Ile114Val)" "" "0000959457" "00022574" "50" "365" "0" "365" "0" "c.365C>T" "r.(?)" "p.(Thr122Ile)" "" "0000965401" "00022574" "30" "927" "0" "927" "0" "c.927C>T" "r.(?)" "p.(=)" "" "0000978685" "00022574" "50" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Lys63Arg)" "" "0000978686" "00022574" "50" "-4672" "0" "-4671" "0" "c.-4672_-4671dup" "r.(?)" "p.(=)" "" "0000997848" "00022574" "30" "2397" "0" "2397" "0" "c.2397C>G" "r.(?)" "p.(Asp799Glu)" "" "0000997849" "00022574" "30" "1195" "-15" "1195" "-15" "c.1195-15G>C" "r.(=)" "p.(=)" "" "0000997850" "00022574" "30" "1194" "3" "1194" "3" "c.1194+3G>A" "r.spl?" "p.?" "" "0000997851" "00022574" "50" "863" "0" "863" "0" "c.863A>G" "r.(?)" "p.(Lys288Arg)" "" "0000997852" "00022574" "90" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Arg155His)" "" "0001014536" "00022574" "50" "342" "0" "342" "0" "c.342C>G" "r.(?)" "p.(Ile114Met)" "" "0001014537" "00022574" "10" "-4917" "0" "-4917" "0" "c.-4917C>T" "r.(?)" "p.(=)" "" "0001025668" "00022574" "30" "1704" "0" "1704" "0" "c.1704A>G" "r.(?)" "p.(Gln568=)" "" "0001025669" "00022574" "50" "-360" "0" "-360" "0" "c.-360G>C" "r.(?)" "p.(=)" "" "0001025670" "00022574" "50" "-4414" "0" "-4414" "0" "c.-4414G>A" "r.(?)" "p.(=)" "" "0001037503" "00022574" "30" "2126" "0" "2126" "0" "c.2126G>A" "r.(?)" "p.(Arg709Gln)" "" "0001037504" "00022574" "10" "1482" "18" "1482" "18" "c.1482+18A>G" "r.(=)" "p.(=)" "" "0001037505" "00022574" "50" "1174" "0" "1174" "0" "c.1174G>A" "r.(?)" "p.(Asp392Asn)" "" "0001037506" "00022574" "30" "303" "-3" "303" "-3" "c.303-3C>T" "r.spl?" "p.?" "" "0001037507" "00022574" "50" "233" "0" "233" "0" "c.233C>G" "r.(?)" "p.(Ser78Cys)" "" "0001053241" "00022574" "30" "1194" "6" "1194" "6" "c.1194+6G>A" "r.(=)" "p.(=)" "" "0001053242" "00022574" "10" "1081" "17" "1081" "17" "c.1081+17C>T" "r.(=)" "p.(=)" "" "0001053243" "00022574" "30" "17" "198" "17" "198" "c.17+198T>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 111 "{{screeningid}}" "{{variantid}}" "0000002924" "0000021298" "0000078720" "0000125822" "0000105695" "0000171152" "0000147278" "0000239956" "0000147279" "0000239957" "0000147280" "0000239958" "0000147281" "0000239959" "0000147282" "0000239960" "0000147283" "0000239961" "0000147284" "0000239962" "0000147285" "0000239963" "0000147286" "0000239964" "0000147287" "0000239965" "0000147288" "0000239966" "0000147289" "0000239967" "0000147290" "0000239968" "0000147291" "0000239969" "0000147292" "0000239970" "0000147293" "0000239971" "0000147294" "0000239972" "0000147295" "0000239973" "0000147296" "0000239974" "0000147297" "0000239975" "0000147298" "0000239976" "0000147299" "0000239977" "0000150137" "0000243611" "0000150138" "0000243612" "0000150139" "0000243613" "0000150140" "0000243614" "0000150141" "0000243615" "0000150142" "0000243616" "0000150143" "0000243617" "0000150144" "0000243618" "0000150145" "0000243622" "0000150146" "0000243623" "0000150147" "0000243633" "0000150148" "0000243634" "0000150149" "0000243638" "0000150150" "0000243639" "0000150151" "0000243624" "0000150152" "0000243643" "0000150153" "0000243644" "0000150154" "0000243645" "0000150155" "0000243625" "0000150156" "0000243640" "0000150157" "0000243641" "0000150158" "0000243646" "0000150159" "0000243626" "0000150160" "0000243648" "0000150161" "0000243650" "0000150162" "0000243651" "0000150163" "0000243652" "0000150215" "0000243619" "0000150275" "0000243649" "0000150276" "0000243635" "0000150277" "0000243717" "0000150278" "0000243718" "0000150305" "0000243738" "0000150476" "0000243925" "0000150478" "0000243627" "0000150479" "0000243927" "0000150480" "0000243620" "0000150481" "0000243642" "0000150482" "0000243739" "0000150483" "0000243628" "0000150484" "0000243636" "0000150485" "0000243629" "0000150486" "0000243928" "0000150487" "0000243929" "0000150523" "0000243954" "0000150948" "0000243630" "0000150949" "0000243647" "0000150950" "0000243631" "0000150951" "0000243632" "0000150952" "0000243621" "0000150953" "0000243637" "0000150954" "0000243960" "0000223561" "0000466819" "0000223612" "0000466820" "0000223785" "0000466821" "0000223791" "0000466822" "0000275455" "0000629462" "0000275591" "0000629653" "0000290306" "0000646956" "0000296716" "0000653413" "0000302509" "0000665798" "0000315691" "0000697780" "0000377333" "0000789643" "0000400267" "0000833074" "0000400326" "0000833133" "0000403658" "0000839174" "0000409945" "0000847161" "0000414403" "0000872054" "0000417807" "0000877539" "0000442053" "0000940015" "0000442054" "0000940016" "0000442055" "0000940017" "0000442056" "0000940018" "0000442057" "0000940019" "0000442058" "0000940020" "0000442059" "0000940021" "0000442060" "0000940022" "0000442061" "0000940023" "0000442062" "0000940024" "0000442063" "0000940025" "0000442064" "0000940026" "0000442065" "0000940027" "0000444186" "0000946043" "0000444251" "0000946107" "0000444297" "0000946153" "0000449262" "0000959457"