### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FUS) # 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}}" "FUS" "fused in sarcoma" "16" "p11.2" "unknown" "NG_012889.2" "UD_132118316832" "" "https://www.LOVD.nl/FUS" "" "1" "4010" "2521" "137070" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/FUS_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2017-07-24 22:21:38" "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}}" "00008204" "FUS" "transcript variant 1" "001" "NM_004960.3" "" "NP_004951.1" "" "" "" "-105" "5014" "1581" "31191431" "31206192" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "00414" "PD" "Parkinson disease, susceptibility to" "AD;AR;Mu" "168600" "" "" "" "00006" "2014-06-15 21:26:13" "00006" "2023-10-27 16:16:06" "02730" "ALS6" "sclerosis, lateral, amyotrophic, type type 6 (ALS6)" "" "608030" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03726" "ETM4" "tremor, hereditary essential, type 4 (ETM4)" "AD" "614782" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-05-15 10:30:00" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "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" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "FUS" "02730" "FUS" "03726" ## Individuals ## Do not remove or alter this header ## ## Count = 217 "{{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}}" "00035876" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035877" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00035878" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00050683" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected sibling(s)" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00057196" "" "" "" "1" "" "01225" "" "" "" "" "Norway" "" "0" "" "" "" "" "00074626" "" "" "" "1" "" "01604" "{PMID:Kim 2015:25457557}, {DOI:Kim 2015:10.1016/j.neurobiolaging.2014.10.002}" "" "F" "" "Korea" "31y" "0" "" "" "Korean" "" "00074627" "" "" "" "1" "" "01604" "{PMID:Kim 2015:25457557}, {DOI:Kim 2015:10.1016/j.neurobiolaging.2014.10.002}" "" "F" "" "Korea" "35y" "0" "" "" "Korean" "" "00149556" "" "" "" "15" "" "02360" "" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00149557" "" "" "" "1" "" "02360" "" "" "" "" "" "" "0" "" "" "white" "" "00149558" "" "" "" "1" "" "02360" "" "" "" "" "" "" "0" "" "" "white" "" "00149559" "" "" "" "1" "" "02360" "" "" "" "" "" "" "0" "" "" "white" "" "00149560" "" "" "" "1" "" "02360" "" "" "" "" "" "" "0" "" "" "white" "" "00149561" "" "" "" "1" "" "02360" "" "" "" "" "" "" "0" "" "" "white" "" "00149562" "" "" "" "1" "" "02360" "" "" "" "" "" "" "0" "" "" "white" "" "00149563" "" "" "" "1" "" "02360" "" "" "" "" "" "" "0" "" "" "white" "" "00149564" "" "" "" "1" "" "02360" "" "" "" "" "" "" "0" "" "" "white" "" "00149565" "" "" "" "4" "" "02360" "" "" "" "" "Cape Verde" "" "0" "" "" "African - Portugese" "" "00149566" "" "" "" "13" "" "02360" "" "" "" "" "United States" "" "0" "" "" "" "" "00149567" "" "" "" "3" "" "02360" "" "" "" "" "" "" "0" "" "" "" "" "00149568" "" "" "" "2" "" "02360" "" "" "" "" "" "" "0" "" "" "" "" "00149569" "" "" "" "3" "" "02360" "" "" "" "" "" "" "0" "" "" "" "" "00149570" "" "" "" "2" "" "02360" "" "" "" "" "" "" "0" "" "" "" "" "00149571" "" "" "" "6" "" "02360" "" "" "" "" "" "" "0" "" "" "" "" "00149572" "" "" "" "3" "" "02360" "" "" "" "" "" "" "0" "" "" "" "" "00149573" "" "" "" "2" "" "02360" "" "" "" "" "" "" "0" "" "" "" "" "00149574" "" "" "" "2" "" "02360" "" "" "" "" "" "" "0" "" "" "" "" "00149575" "" "" "" "2" "" "02360" "" "" "" "" "" "" "0" "" "" "" "" "00149576" "" "" "" "1" "" "02360" "" "" "" "" "" "37y04m" "0" "" "" "" "" "00149577" "" "" "" "1" "" "02360" "" "" "" "" "" "22y06m" "0" "" "" "" "" "00149578" "" "" "" "1" "" "02360" "" "" "" "" "" "67y07m" "0" "" "" "" "" "00149579" "" "" "" "3" "" "02360" "" "" "" "" "" "" "0" "" "" "" "" "00149580" "" "" "" "2" "" "02360" "" "" "" "" "" "" "0" "" "" "" "" "00149581" "" "" "" "12" "" "02360" "" "" "" "" "" "" "0" "" "" "" "" "00149582" "" "" "" "1" "" "02360" "" "" "" "" "" "32y11m" "0" "" "" "white (Italian)" "" "00149583" "" "" "" "1" "" "02360" "" "" "" "" "" "30y" "0" "" "" "white (Italian)" "" "00149584" "" "" "" "1" "" "02360" "" "" "" "" "" "" "0" "" "" "white (Italian)" "" "00149585" "" "" "" "1" "" "02360" "" "" "" "" "" "33y11m" "0" "" "" "white (Italian)" "" "00149586" "" "" "" "1" "" "02360" "" "" "" "" "" "" "0" "" "" "white (Italian)" "" "00149587" "" "" "" "1" "" "02360" "" "" "" "" "France" "28y04m" "0" "" "" "white" "" "00149588" "" "" "" "1" "" "02360" "" "" "" "" "Canada" "56y06m" "0" "" "" "white" "" "00149589" "" "" "" "1" "" "02360" "" "" "" "" "France" "38y" "0" "" "" "white" "" "00149590" "" "" "" "1" "" "02360" "" "" "" "" "France" "80y10m" "0" "" "" "white" "" "00149591" "" "" "" "1" "" "02360" "" "" "" "" "" "49y" "0" "" "" "" "" "00149592" "" "" "" "1" "" "02360" "" "" "" "" "" "39y" "0" "" "" "" "" "00149593" "" "" "" "6" "" "02360" "" "" "" "" "Japan" "46y04m" "0" "" "" "Asian" "" "00149595" "" "" "" "6" "" "02360" "" "" "" "" "Belgium" "56y07m" "0" "" "" "white" "" "00149647" "" "" "" "1" "" "02360" "" "" "" "" "Italy" "" "0" "" "" "white" "" "00149648" "" "" "" "1" "" "02360" "" "" "" "" "Italy" "" "0" "" "" "white" "" "00149649" "" "" "" "1" "" "02360" "" "" "" "" "Belgium" "" "0" "" "" "white" "" "00149659" "" "" "" "1" "" "02360" "" "" "" "" "Italy" "31y" "0" "" "" "white" "" "00149660" "" "" "" "1" "" "02360" "" "" "" "" "Italy" "" "0" "" "" "white" "" "00149662" "" "" "" "1" "" "02360" "" "" "" "" "Italy" "" "0" "" "" "white" "" "00149663" "" "" "" "1" "" "02360" "" "" "" "" "Italy" "" "0" "" "" "white" "" "00149664" "" "" "" "1" "" "02360" "" "" "" "" "Italy" "" "0" "" "" "white" "" "00149665" "" "" "" "1" "" "02360" "" "" "" "" "Italy" "" "0" "" "" "white" "" "00149666" "" "" "" "1" "" "02360" "" "" "" "" "Italy" "" "0" "" "" "white" "" "00149675" "" "" "" "1" "" "02360" "" "" "" "" "United States" "22y" "0" "" "" "" "" "00149676" "" "" "" "1" "" "02360" "" "" "" "" "United States" "66y" "0" "" "" "" "" "00149678" "" "" "" "3" "" "02360" "" "" "" "" "Belgium" "" "0" "" "" "white" "" "00152018" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00246712" "" "" "" "1" "" "03009" "{PMID:Belzil 2011:21261515}" "" "" "" "France" "" "0" "" "" "" "" "00246713" "" "" "" "1" "" "03009" "{PMID:Belzil 2009:19741216}" "" "" "" "France" "" "0" "" "" "" "" "00246714" "" "" "" "1" "" "03009" "{PMID:Belzil 2011:21261515}" "" "" "" "France" "" "0" "" "" "" "" "00246715" "" "" "" "1" "" "03009" "{PMID:Yan 2010:20668259}" "" "" "" "" "" "0" "" "" "European" "" "00246716" "" "" "" "1" "" "03009" "{PMID:van Blitterswijk 2012:22645277}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00246717" "" "" "" "1" "" "03009" "{PMID:Brown 2012:22292843}" "" "" "" "United States" "" "0" "" "" "" "" "00246718" "" "" "" "1" "" "03009" "{PMID:Ticozzi 2009:19741215}" "" "" "" "Italy" "" "0" "" "" "" "" "00246719" "" "" "" "1" "" "03009" "{PMID:Kwiatkowski 2009:19251627}" "" "" "" "United States" "" "0" "" "" "" "" "00246720" "" "" "" "1" "" "03009" "{PMID:Belzil 2011:21261515}" "" "" "" "France" "" "0" "" "" "" "" "00246721" "" "" "" "1" "" "03009" "{PMID:Yan 2010:20668259}" "" "" "" "" "" "0" "" "" "European" "" "00246722" "" "" "" "1" "" "03009" "{PMID:Rademakers 2010:20544928}" "" "" "" "Canada" "" "0" "" "" "" "" "00246723" "" "" "" "1" "" "03009" "{PMID:Corrado 2009:19861302}" "" "" "" "Italy" "" "0" "" "" "" "" "00246724" "" "" "" "1" "" "03009" "{PMID:Yan 2010:20668259}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00246725" "" "" "" "1" "" "03009" "{PMID:Corrado 2009:19861302}" "" "" "" "Italy" "" "0" "" "" "" "" "00246726" "" "" "" "1" "" "03009" "{PMID:Corrado 2009:19861302}" "" "" "" "Italy" "" "0" "" "" "" "" "00246727" "" "" "" "1" "" "03009" "{PMID:Kwon 2012:22244934}" "" "" "" "Korea" "" "0" "" "" "" "" "00246728" "" "" "" "1" "" "03009" "{PMID:Corrado 2009:19861302}" "" "" "" "Italy" "" "0" "" "" "" "" "00246729" "" "" "" "1" "" "03009" "{PMID:Corrado 2009:19861302}" "" "" "" "Italy" "" "0" "" "" "" "" "00246730" "" "" "" "1" "" "03009" "{PMID:Ticozzi 2009:19741215}" "" "" "" "Italy" "" "0" "" "" "" "" "00246731" "" "" "" "1" "" "03009" "{PMID:Kwiatkowski 2009:19251627}" "" "" "" "United States" "" "0" "" "" "" "" "00246732" "" "" "" "1" "" "03009" "{PMID:Kwon 2012:22244934}" "" "" "" "Korea" "" "0" "" "" "" "" "00246733" "" "" "" "1" "" "03009" "{PMID:DeJesus-Hernandez 2010:20232451}" "" "" "" "United States" "" "0" "" "" "" "" "00246734" "" "" "" "1" "" "03009" "{PMID:Groen 2010:20142531}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00246735" "" "" "" "1" "" "03009" "{PMID:Nagayama 2012:22999566}" "" "" "" "Japan" "" "0" "" "" "" "" "00246736" "" "" "" "1" "" "03009" "{PMID:DeJesus-Hernandez 2010:20232451}" "" "" "" "United States" "" "0" "" "" "" "" "00246737" "" "" "" "1" "" "03009" "{PMID:Hara 2012:22619056}" "" "" "" "Japan" "" "0" "" "" "" "" "00246738" "" "" "" "1" "" "03009" "{PMID:Yan 2010:20668259}" "" "" "" "" "" "0" "" "" "European" "" "00246739" "" "" "" "1" "" "03009" "{PMID:van Blitterswijk 2012:22645277}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00246740" "" "" "" "1" "" "03009" "{PMID:Yamashita 2012:22057404}" "" "" "" "Japan" "" "0" "" "" "" "" "00246741" "" "" "" "1" "" "03009" "{PMID: Zou 2012:23046859}" "" "" "" "China" "" "0" "" "" "" "" "00246742" "" "" "" "1" "" "03009" "{PMID:Waibel 2010:20660363}" "" "" "" "Germany" "" "0" "" "" "" "" "00246743" "" "" "" "1" "" "03009" "{PMID:Bosco 2010:20699327}" "" "" "" "United States" "" "0" "" "" "" "" "00246744" "" "" "" "1" "" "03009" "{PMID:Kwon 2012:22244934}" "" "" "" "Korea" "" "0" "" "" "" "" "00246745" "" "" "" "1" "" "03009" "{PMID:van Blitterswijk 2012:22645277}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00246746" "" "" "" "1" "" "03009" "{PMID:Yan 2010:20668259}" "" "" "" "" "" "0" "" "" "European" "" "00246747" "" "" "" "1" "" "03009" "{PMID:Belzil 2012:22248478}" "" "" "" "Canada" "" "0" "" "" "" "" "00246748" "" "" "" "1" "" "03009" "{PMID:Yan 2010:20668259}" "" "" "" "" "" "0" "" "" "European" "" "00246749" "" "" "" "1" "" "03009" "{PMID:Belzil 2011:21261515}" "" "" "" "Canada" "" "0" "" "" "" "" "00246750" "" "" "" "1" "" "03009" "{PMID:Kwon 2012:22244934}" "" "" "" "Korea" "" "0" "" "" "" "" "00246751" "" "" "" "1" "" "03009" "{PMID:Zou 2012c:23046859}" "" "" "" "China" "" "0" "" "" "" "" "00246752" "" "" "" "1" "" "03009" "{PMID:Lai 2010:20138404}" "" "" "" "Italy" "" "0" "" "" "" "" "00246753" "" "" "" "1" "" "03009" "{PMID:Hewitt 2010:20385912}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00246754" "" "" "" "1" "" "03009" "{PMID:Corrado 2009:19861302}" "" "" "" "Italy" "" "0" "" "" "" "" "00246755" "" "" "" "1" "" "03009" "{PMID:Corrado 2009:19861302}" "" "" "" "Italy" "" "0" "" "" "" "" "00246756" "" "" "" "1" "" "03009" "{PMID:Yan 2010:20668259}" "" "" "" "" "" "0" "" "" "European" "" "00246757" "" "" "" "1" "" "03009" "{PMID:Syriani 2011:21128870}" "" "" "" "Spain" "" "0" "" "" "" "" "00246758" "" "" "" "1" "" "03009" "{PMID:Suzuki 2010:20224596}" "" "" "" "Japan" "" "0" "" "" "" "" "00246759" "" "" "" "1" "" "03009" "{PMID:Waibel 2010:20660363}" "" "" "" "Germany" "" "0" "" "" "" "" "00246760" "" "" "" "1" "" "03009" "{PMID:Waibel 2010:20660363}" "" "" "" "Germany" "" "0" "" "" "" "" "00246761" "" "" "" "1" "" "03009" "{PMID:Waibel 2010:20660363}" "" "" "" "Germany" "" "0" "" "" "" "" "00246762" "" "" "" "1" "" "03009" "{PMID:Suzuki 2010:20224596}" "" "" "" "Japan" "" "0" "" "" "" "" "00246763" "" "" "" "1" "" "03009" "{PMID:Vance 2009:19251628}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00246764" "" "" "" "1" "" "03009" "{PMID:Chiò 2009:19450904}" "" "" "" "Italy" "" "0" "" "" "" "" "00246765" "" "" "" "1" "" "03009" "{PMID:Millecamps 2010:20577002}" "" "" "" "France" "" "0" "" "" "" "" "00246766" "" "" "" "1" "" "03009" "{PMID:Suzuki 2010:20224596}" "" "" "" "Japan" "" "0" "" "" "" "" "00246767" "" "" "" "1" "" "03009" "{PMID:Robertson 2011:20561714}" "" "" "" "China" "" "0" "" "" "" "" "00246768" "" "" "" "1" "" "03009" "{PMID:Yamashita 2012:22057404}" "" "" "" "Japan" "" "0" "" "" "" "" "00246769" "" "" "" "1" "" "03009" "{PMID:Kwiatkowski 2009:19251627}" "" "" "" "United States" "" "0" "" "" "" "" "00246770" "" "" "" "1" "" "03009" "{PMID:Yan 2010:20668259}" "" "" "" "" "" "0" "" "" "European" "" "00246771" "" "" "" "1" "" "03009" "{PMID:Kwiatkowski 2009:19251627}" "" "" "" "United States" "" "0" "" "" "" "" "00246772" "" "" "" "1" "" "03009" "{PMID:Robertson 2011:20561714}" "" "" "" "China" "" "0" "" "" "" "" "00246773" "" "" "" "1" "" "03009" "{PMID:Tsai 2011:20472325}" "" "" "" "Taiwan" "" "0" "" "" "" "" "00246774" "" "" "" "1" "" "03009" "{PMID:Suzuki 2010:20224596}" "" "" "" "Japan" "" "0" "" "" "" "" "00246775" "" "" "" "1" "" "03009" "{PMID:Kwiatkowski 2009:19251627}" "" "" "" "United States" "" "0" "" "" "" "" "00246776" "" "" "" "1" "" "03009" "{PMID:Lai 2010:20138404}" "" "" "" "United States" "" "0" "" "" "" "" "00246777" "" "" "" "1" "" "03009" "{PMID:Kwiatkowski 2009:19251627}" "" "" "" "United States" "" "0" "" "" "" "" "00246778" "" "" "" "1" "" "03009" "{PMID:Bäumer 2010:20668261}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00246779" "" "" "" "1" "" "03009" "{PMID:Belzil 2011:21261515}" "" "" "" "France" "" "0" "" "" "" "" "00246780" "" "" "" "1" "" "03009" "{PMID:Millecamps 2010:20577002}" "" "" "" "France" "" "0" "" "" "" "" "00246781" "" "" "" "1" "" "03009" "{PMID:Sproviero 2012:22055719}" "" "" "" "" "" "0" "" "" "European" "" "00246782" "" "" "" "1" "" "03009" "{PMID:Zou 2012c:23046859}" "" "" "" "China" "" "0" "" "" "" "" "00246783" "" "" "" "1" "" "03009" "{PMID:Kwiatkowski 2009:19251627}" "" "" "" "United States" "" "0" "" "" "" "" "00246784" "" "" "" "1" "" "03009" "{PMID:Kwiatkowski 2009:19251627}" "" "" "" "United States" "" "0" "" "" "" "" "00246785" "" "" "" "1" "" "03009" "{PMID:Ticozzi 2009:19741215}" "" "" "" "Italy" "" "0" "" "" "" "" "00246786" "" "" "" "1" "" "03009" "{PMID:Brown 2012:22292843}" "" "" "" "United States" "" "0" "" "" "" "" "00246787" "" "" "" "1" "" "03009" "{PMID:Yan 2010:20668259}" "" "" "" "" "" "0" "" "" "European" "" "00246788" "" "" "" "1" "" "03009" "{PMID:Yamamoto-Watanabe 2010:20621307}" "" "" "" "Japan" "" "0" "" "" "" "" "00246789" "" "" "" "1" "" "03009" "{PMID:Sproviero 2012:22055719}" "" "" "" "Spain" "" "0" "" "" "" "" "00246790" "" "" "" "1" "" "03009" "{PMID:Chiò 2011:20598774}" "" "" "" "Italy" "" "0" "" "" "" "" "00246791" "" "" "" "1" "" "03009" "{PMID:Blair 2010:19965854}" "" "" "" "Australia" "" "0" "" "" "" "" "00246792" "" "" "" "1" "" "03009" "{PMID:Drepper 2011:20018407}" "" "" "" "Germany" "" "0" "" "" "" "" "00246793" "" "" "" "1" "" "03009" "{PMID:Drepper 2011:20018407}" "" "" "" "Germany" "" "0" "" "" "" "" "00246794" "" "" "" "1" "" "03009" "{PMID:Millecamps 2010:20577002}" "" "" "" "France" "" "0" "" "" "" "" "00246795" "" "" "" "1" "" "03009" "{PMID:Millecamps 2010:20577002}" "" "" "" "France" "" "0" "" "" "" "" "00246796" "" "" "" "1" "" "03009" "{PMID:Millecamps 2010:20577002}" "" "" "" "France" "" "0" "" "" "" "" "00246797" "" "" "" "1" "" "03009" "{PMID:Vance 2009:19251628}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00246798" "" "" "" "1" "" "03009" "{PMID:Syriani 2011:21128870}" "" "" "" "Spain" "" "0" "" "" "" "" "00246799" "" "" "" "1" "" "03009" "{PMID:Suzuki 2010:20224596}" "" "" "" "Japan" "" "0" "" "" "" "" "00246800" "" "" "" "1" "" "03009" "{PMID:Lai 2010:20138404}" "" "" "" "Italy" "" "0" "" "" "" "" "00246801" "" "" "" "1" "" "03009" "{PMID:Rademakers 2010:20544928}" "" "" "" "Canada" "" "0" "" "" "" "" "00246802" "" "" "" "1" "" "03009" "{PMID:Groen 2010:20142531}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00246803" "" "" "" "1" "" "03009" "{PMID:Corrado 2009:19861302}" "" "" "" "Italy" "" "0" "" "" "" "" "00246804" "" "" "" "1" "" "03009" "{PMID:Corrado 2009:19861302}" "" "" "" "Italy" "" "0" "" "" "" "" "00246805" "" "" "" "1" "" "03009" "{PMID:Kwiatkowski 2009:19251627}" "" "" "" "United States" "" "0" "" "" "" "" "00246806" "" "" "" "1" "" "03009" "{PMID:Kwiatkowski 2009:19251627}" "" "" "" "United States" "" "0" "" "" "" "" "00246807" "" "" "" "1" "" "03009" "{PMID:Kwiatkowski 2009:19251627}" "" "" "" "United States" "" "0" "" "" "" "" "00246808" "" "" "" "1" "" "03009" "{PMID:Ticozzi 2009:19741215}" "" "" "" "Italy" "" "0" "" "" "" "" "00246809" "" "" "" "1" "" "03009" "{PMID:Ticozzi 2009:19741215}" "" "" "" "Italy" "" "0" "" "" "" "" "00246810" "" "" "" "1" "" "03009" "{PMID:van Blitterswijk 2012:22645277}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00246811" "" "" "" "1" "" "03009" "{PMID:Yan 2010:20668259}" "" "" "" "" "" "0" "" "" "European" "" "00246812" "" "" "" "1" "" "03009" "{PMID:Yan 2010:20668259}" "" "" "" "" "" "0" "" "" "European" "" "00246813" "" "" "" "1" "" "03009" "{PMID:Yan 2010:20668259}" "" "" "" "" "" "0" "" "" "European" "" "00246814" "" "" "" "1" "" "03009" "{PMID:Yan 2010:20668259}" "" "" "" "" "" "0" "" "" "European" "" "00246815" "" "" "" "1" "" "03009" "{PMID:Yan 2010:20668259}" "" "" "" "" "" "0" "" "" "Afro America" "" "00246816" "" "" "" "1" "" "03009" "{PMID:Yan 2010:20668259}" "" "" "" "China" "" "0" "" "" "" "" "00246817" "" "" "" "1" "" "03009" "{PMID:Belzil 2009 :19741216}" "" "" "" "France" "" "0" "" "" "" "" "00246818" "" "" "" "1" "" "03009" "{PMID:Van Damme 2010:19922450}" "" "" "" "Belgium" "" "0" "" "" "" "" "00246819" "" "" "" "1" "" "03009" "{PMID: Van Langenhove 2010:20124201}" "" "" "" "Belgium" "" "0" "" "" "" "" "00246820" "" "" "" "1" "" "03009" "{PMID:Yan 2010:20668259}" "" "" "" "" "" "0" "" "" "European" "" "00246821" "" "" "" "1" "" "03009" "{PMID:Yan 2010:20668259}" "" "" "" "Cambodia" "" "0" "" "" "" "" "00246822" "" "" "" "1" "" "03009" "{PMID:Broustal 2010:21158017}" "" "" "" "France" "" "0" "" "" "" "" "00246823" "" "" "" "1" "" "03009" "{PMID:Blair 2010:19965854}" "" "" "" "Australia" "" "0" "" "" "" "" "00246824" "" "" "" "1" "" "03009" "{PMID:Tsai 2011:20472325}" "" "" "" "Taiwan" "" "0" "" "" "" "" "00246825" "" "" "" "1" "" "03009" "{PMID:Millecamps 2010:20577002}" "" "" "" "France" "" "0" "" "" "" "" "00246826" "" "" "" "1" "" "03009" "{PMID:Vance 2009:19251628}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00246827" "" "" "" "1" "" "03009" "{PMID:Vance 2009:19251628}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00246828" "" "" "" "1" "" "03009" "{PMID:Lai 2010:20138404}" "" "" "" "Italy" "" "0" "" "" "" "" "00246829" "" "" "" "1" "" "03009" "{PMID:Zou 2012:22340366}" "" "" "" "China" "" "0" "" "" "" "" "00246830" "" "" "" "1" "" "03009" "{PMID:Zou 2012:22340366}" "" "" "" "China" "" "0" "" "" "" "" "00246831" "" "" "" "1" "" "03009" "{PMID:Groen 2010:20142531}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00246832" "" "" "" "1" "" "03009" "{PMID:Kwiatkowski 2009:19251627}" "" "" "" "United States" "" "0" "" "" "" "" "00246833" "" "" "" "1" "" "03009" "{PMID:van Blitterswijk 2012:22645277}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00246834" "" "" "" "1" "" "03009" "{PMID:Belzil 2009 :19741216}" "" "" "" "France" "" "0" "" "" "" "" "00246835" "" "" "" "1" "" "03009" "{PMID:Belzil 2009 :19741216}" "" "" "" "Canada" "" "0" "" "" "Quebec" "" "00246836" "" "" "" "1" "" "03009" "{PMID:Lattante 2012:22722621}" "" "" "" "Italy" "" "0" "" "" "" "" "00246837" "" "" "" "1" "" "03009" "{PMID:Yan 2010:20668259}" "" "" "" "" "" "0" "" "" "European" "" "00246838" "" "" "" "1" "" "03009" "{PMID:Millecamps 2010:20577002}" "" "" "" "France" "" "0" "" "" "" "" "00246839" "" "" "" "1" "" "03009" "{PMID:Zou 2012b:22340366}" "" "" "" "China" "" "0" "" "" "" "" "00246840" "" "" "" "1" "" "03009" "{PMID:Kwiatkowski 2009:19251627}" "" "" "" "United States" "" "0" "" "" "" "" "00246841" "" "" "" "1" "" "03009" "{PMID:Hewitt 2010:20385912}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00246842" "" "" "" "1" "" "03009" "{PMID:Kwiatkowski 2009:19251627}" "" "" "" "United States" "" "0" "" "" "" "" "00246843" "" "" "" "1" "" "03009" "{PMID: Yan 2010:20668259}" "" "" "" "" "" "0" "" "" "European" "" "00246844" "" "" "" "1" "" "03009" "{PMID: Yan 2010:20668259}" "" "" "" "Spain" "" "0" "" "" "" "" "00246845" "" "" "" "1" "" "03009" "{PMID:Kwiatkowski 2009:19251627}" "" "" "" "United States" "" "0" "" "" "" "" "00246846" "" "" "" "1" "" "03009" "{PMID: Mochizuki 2012:22980027}" "" "" "" "Japan" "" "0" "" "" "" "" "00246847" "" "" "" "1" "" "03009" "{PMID:Conte 2011:21907581}" "" "" "" "Italy" "" "0" "" "" "" "" "00246848" "" "" "" "1" "" "03009" "{PMID:Huang 2010:20579074}" "" "" "" "United States" "" "0" "" "" "" "" "00246849" "" "" "" "1" "" "03009" "{PMID:Yan 2010:20668259}" "" "" "" "" "" "0" "" "" "European" "" "00246850" "" "" "" "1" "" "03009" "{PMID:Bäumer 2010:20668261}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00246851" "" "" "" "1" "" "03009" "{PMID:Bäumer 2010:20668261}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00246852" "" "" "" "1" "" "03009" "{PMID:Sproviero 2012:22055719}" "" "" "" "Italy" "" "0" "" "" "" "" "00246853" "" "" "" "1" "" "03009" "{PMID:Chiò 2009:19450904}" "" "" "" "Italy" "" "0" "" "" "" "" "00246854" "" "" "" "1" "" "03009" "{PMID:Zou 2012:23046859}" "" "" "" "China" "" "0" "" "" "" "" "00246855" "" "" "" "1" "" "03009" "{PMID:Kwiatkowski 2009:19251627}" "" "" "" "United States" "" "0" "" "" "" "" "00246856" "" "" "" "1" "" "03009" "{PMID:Brown 2012:22292843}" "" "" "" "United States" "" "0" "" "" "" "" "00246857" "" "" "" "1" "" "03009" "{PMID:Brown 2012:22292843}" "" "" "" "United States" "" "0" "" "" "" "" "00246858" "" "" "" "1" "" "03009" "{PMID:Kwon 2012:22244934}" "" "" "" "Korea" "" "0" "" "" "" "" "00289420" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00291444" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296862" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00362030" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "176955" "00374319" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3420" "00390025" "" "" "" "1" "" "00000" "{PMID:Ruberto 2020:32507954}" "" "?" "" "Italy" "" "0" "" "" "" "3" "00407026" "" "" "" "1" "" "00006" "{PMID:Jiang 2022:33563768}" "3-generation family, 1 affected, unaffected heterozygous carrier mother/grandmother" "M" "" "China" "" "0" "" "" "" "FUS#1" "00407027" "" "" "" "1" "" "00006" "{PMID:Jiang 2022:33563768}" "" "F" "" "China" "" "0" "" "" "" "FUS#2" "00407028" "" "" "" "1" "" "00006" "{PMID:Jiang 2022:33563768}" "" "M" "" "China" "" "0" "" "" "" "FUS#3" "00407029" "" "" "" "1" "" "00006" "{PMID:Jiang 2022:33563768}" "4-generation family, 1 affected, unaffected non-carrier parents" "M" "yes" "China" "" "0" "" "" "" "FUS#4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 215 "{{individualid}}" "{{diseaseid}}" "00050683" "00198" "00057196" "00414" "00074626" "04255" "00074627" "04255" "00149556" "02730" "00149557" "02730" "00149558" "02730" "00149559" "02730" "00149560" "02730" "00149561" "02730" "00149562" "02730" "00149563" "02730" "00149564" "02730" "00149565" "02730" "00149566" "02730" "00149567" "02730" "00149568" "02730" "00149569" "02730" "00149570" "02730" "00149571" "02730" "00149572" "02730" "00149573" "02730" "00149574" "02730" "00149575" "02730" "00149576" "02730" "00149577" "02730" "00149578" "02730" "00149579" "02730" "00149580" "02730" "00149581" "02730" "00149582" "02730" "00149583" "02730" "00149584" "02730" "00149585" "02730" "00149586" "02730" "00149587" "02730" "00149588" "02730" "00149589" "02730" "00149590" "02730" "00149591" "02730" "00149592" "02730" "00149593" "02730" "00149595" "02730" "00149647" "02730" "00149648" "02730" "00149649" "00096" "00149659" "02730" "00149660" "02730" "00149662" "02730" "00149663" "02730" "00149664" "02730" "00149665" "02730" "00149666" "02730" "00149675" "02730" "00149676" "02730" "00149678" "02730" "00152018" "02730" "00246712" "04255" "00246713" "04255" "00246714" "04255" "00246715" "04255" "00246716" "04255" "00246717" "04255" "00246717" "05105" "00246718" "04255" "00246719" "04255" "00246720" "04255" "00246721" "04255" "00246722" "04255" "00246723" "04255" "00246724" "04255" "00246725" "04255" "00246726" "04255" "00246727" "04255" "00246728" "04255" "00246729" "04255" "00246730" "04255" "00246731" "04255" "00246732" "04255" "00246733" "04255" "00246734" "04255" "00246735" "04255" "00246736" "04255" "00246737" "04255" "00246738" "04255" "00246739" "04255" "00246740" "04255" "00246741" "04255" "00246742" "04255" "00246743" "04255" "00246744" "04255" "00246745" "04255" "00246746" "04255" "00246747" "04255" "00246748" "04255" "00246749" "04255" "00246750" "04255" "00246751" "04255" "00246752" "04255" "00246753" "04255" "00246754" "04255" "00246755" "04255" "00246756" "04255" "00246757" "04255" "00246758" "04255" "00246759" "04255" "00246760" "04255" "00246761" "04255" "00246762" "04255" "00246763" "04255" "00246764" "04255" "00246765" "04255" "00246766" "04255" "00246767" "04255" "00246768" "04255" "00246769" "04255" "00246770" "04255" "00246771" "04255" "00246772" "04255" "00246773" "04255" "00246774" "04255" "00246775" "04255" "00246776" "04255" "00246777" "04255" "00246778" "04255" "00246779" "04255" "00246780" "04255" "00246781" "04255" "00246782" "04255" "00246783" "04255" "00246784" "04255" "00246785" "04255" "00246786" "04255" "00246787" "04255" "00246788" "04255" "00246789" "04255" "00246790" "04255" "00246791" "04255" "00246792" "04255" "00246793" "04255" "00246794" "04255" "00246795" "04255" "00246796" "04255" "00246797" "04255" "00246798" "04255" "00246799" "04255" "00246800" "04255" "00246801" "04255" "00246802" "04255" "00246803" "04255" "00246804" "04255" "00246805" "04255" "00246806" "04255" "00246807" "04255" "00246808" "04255" "00246809" "04255" "00246810" "04255" "00246811" "04255" "00246812" "04255" "00246813" "04255" "00246814" "04255" "00246815" "04255" "00246816" "04255" "00246817" "04255" "00246818" "04255" "00246819" "04255" "00246820" "04255" "00246821" "04255" "00246822" "04255" "00246823" "04255" "00246824" "04255" "00246825" "04255" "00246826" "04255" "00246827" "04255" "00246828" "04255" "00246829" "04255" "00246830" "04255" "00246831" "04255" "00246832" "04255" "00246833" "04255" "00246834" "04255" "00246835" "04255" "00246836" "04255" "00246837" "04255" "00246838" "04255" "00246839" "04255" "00246840" "04255" "00246841" "04255" "00246842" "04255" "00246843" "04255" "00246844" "04255" "00246845" "04255" "00246846" "04255" "00246847" "04255" "00246848" "04255" "00246849" "04255" "00246850" "04255" "00246851" "04255" "00246852" "04255" "00246853" "04255" "00246854" "04255" "00246855" "04255" "00246856" "04255" "00246857" "04255" "00246858" "04255" "00289420" "00198" "00291444" "00198" "00296862" "00198" "00362030" "02730" "00374319" "00198" "00390025" "04214" "00407026" "04255" "00407027" "04255" "00407028" "04255" "00407029" "04255" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00096, 00198, 00414, 02730, 03726, 04214, 04255, 05105 ## Count = 212 "{{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}}" "0000037295" "00198" "00050683" "00006" "Unknown" "" "microcephaly, abnormality of the outer ear, prominent metopic ridge, narrow mouth, inferior vermis hypoplasia, delayed speech and language development" "" "" "" "" "" "" "" "" "" "" "" "0000043876" "00414" "00057196" "01225" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000054381" "04255" "00074626" "01604" "Isolated (sporadic)" "" "dysarthria (HP:0001260), weakness in her left proximal arm (HP:0003701), respiratory\r\ndifficulty with dysphagia (HP:0002015), no cognitive and/or behavioral impairments (-HP:0100543)" "27y" "" "" "" "" "" "" "" "" "" "" "0000054383" "04255" "00074627" "01604" "Isolated (sporadic)" "" "weakness in her right distal arm (HP:0002460), dysarthria (HP:0001260), respiratory difficulty (HP:?), no cognitive and/or behavioral impairments (-HP:0100543)" "31y" "" "" "" "" "" "" "" "" "" "" "0000121971" "00137" "00149556" "02360" "Familial, autosomal dominant" "38y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121972" "00137" "00149557" "02360" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121973" "00137" "00149558" "02360" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121974" "00137" "00149559" "02360" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121975" "00137" "00149560" "02360" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121976" "00137" "00149561" "02360" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121977" "00137" "00149562" "02360" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121978" "00137" "00149563" "02360" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121979" "00137" "00149564" "02360" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000121980" "00137" "00149565" "02360" "Familial, autosomal recessive" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121981" "00137" "00149566" "02360" "Familial, autosomal dominant" "39y07m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121982" "00137" "00149567" "02360" "Familial, autosomal dominant" "60y08m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121983" "00137" "00149568" "02360" "Familial, autosomal dominant" "37y06m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121984" "00137" "00149569" "02360" "Familial, autosomal dominant" "35y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121985" "00137" "00149570" "02360" "Familial, autosomal dominant" "54y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121986" "00137" "00149571" "02360" "Familial, autosomal dominant" "39y08m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121987" "00137" "00149572" "02360" "Familial, autosomal dominant" "57y08m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121988" "00137" "00149573" "02360" "Familial, autosomal dominant" "54y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121989" "00137" "00149574" "02360" "Familial, autosomal dominant" "28y06m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121990" "00137" "00149575" "02360" "Familial, autosomal dominant" "61y07m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121991" "00137" "00149576" "02360" "Familial, autosomal dominant" "34y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121992" "00137" "00149577" "02360" "Familial, autosomal dominant" "22y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121993" "00137" "00149578" "02360" "Familial, autosomal dominant" "65y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121994" "00137" "00149579" "02360" "Familial, autosomal dominant" "43y04m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121995" "00137" "00149580" "02360" "Familial, autosomal dominant" "32y06m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121996" "00137" "00149581" "02360" "Familial, autosomal dominant" "40y04m" "" "" "" "" "" "" "" "" "" "" "" "" "0000121997" "00137" "00149582" "02360" "Familial, autosomal dominant" "32y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121998" "00137" "00149583" "02360" "Familial, autosomal dominant" "25y" "" "" "" "" "" "" "" "" "" "" "" "" "0000121999" "00137" "00149584" "02360" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000122000" "00137" "00149585" "02360" "Familial, autosomal dominant" "33y" "Dementia" "" "" "" "" "" "" "" "" "" "" "" "0000122001" "00137" "00149586" "02360" "Familial" "66y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122002" "00137" "00149587" "02360" "Isolated (sporadic)" "26y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122003" "00137" "00149588" "02360" "Familial" "54y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122004" "00137" "00149589" "02360" "Isolated (sporadic)" "32y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122005" "00137" "00149590" "02360" "Isolated (sporadic)" "80y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122006" "00137" "00149591" "02360" "Familial, autosomal dominant" "43y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122007" "00137" "00149592" "02360" "Isolated (sporadic)" "28y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122008" "00137" "00149593" "02360" "Familial, autosomal dominant" "40y08m" "" "" "" "" "" "" "" "" "" "" "" "" "0000122010" "00137" "00149595" "02360" "Familial, autosomal dominant" "50y02m" "" "" "" "" "" "" "" "" "" "" "" "" "0000122061" "00137" "00149647" "02360" "Familial" "43y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122062" "00137" "00149648" "02360" "Isolated (sporadic)" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122063" "00104" "00149649" "02360" "Unknown" "52y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122073" "00137" "00149659" "02360" "Isolated (sporadic)" "26y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122074" "00137" "00149660" "02360" "Isolated (sporadic)" "65y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122076" "00137" "00149662" "02360" "Isolated (sporadic)" "40y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122077" "00137" "00149663" "02360" "Familial" "53y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122078" "00137" "00149664" "02360" "Isolated (sporadic)" "34y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122079" "00137" "00149665" "02360" "Isolated (sporadic)" "70y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122080" "00137" "00149666" "02360" "Isolated (sporadic)" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122089" "00137" "00149675" "02360" "Isolated (sporadic)" "20y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122090" "00137" "00149676" "02360" "Isolated (sporadic)" "65y" "" "" "" "" "" "" "" "" "" "" "" "" "0000122092" "00137" "00149678" "02360" "Unknown" "47y08m" "" "" "" "" "" "" "" "" "" "" "" "" "0000186539" "04255" "00246712" "03009" "Isolated (sporadic)" "" "" "36y" "" "" "" "" "" "" "" "" "" "" "0000186540" "04255" "00246713" "03009" "Isolated (sporadic)" "" "" "80y" "" "" "" "" "" "" "" "" "" "" "0000186541" "04255" "00246714" "03009" "Isolated (sporadic)" "" "" "74y" "" "" "" "" "" "" "" "" "" "" "0000186542" "04255" "00246715" "03009" "Familial" "" "" "20y" "" "" "" "" "" "" "" "" "" "" "0000186543" "04255" "00246716" "03009" "Isolated (sporadic)" "" "" "60y" "" "" "" "" "" "" "" "" "" "" "0000186545" "04255" "00246718" "03009" "Familial" "" "" "33y" "" "" "" "" "" "" "" "" "" "" "0000186546" "04255" "00246719" "03009" "Familial" "" "" "43y" "" "" "" "" "" "" "" "" "" "" "0000186547" "04255" "00246720" "03009" "Isolated (sporadic)" "" "" "57y" "" "" "" "" "" "" "" "" "" "" "0000186548" "00002" "00246721" "03009" "Familial" "" "FTLD" "" "" "" "" "" "" "" "" "" "" "" "0000186549" "04255" "00246722" "03009" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186550" "04255" "00246723" "03009" "Familial" "" "" "43y" "" "" "" "" "" "" "" "" "" "" "0000186551" "00002" "00246724" "03009" "Familial" "" "FTLD" "54y" "" "" "" "" "" "" "" "" "" "" "0000186552" "04255" "00246725" "03009" "Isolated (sporadic)" "" "" "50y" "" "" "" "" "" "" "" "" "" "" "0000186553" "04255" "00246726" "03009" "Isolated (sporadic)" "" "" "26y" "" "" "" "" "" "" "" "" "" "" "0000186554" "04255" "00246727" "03009" "Isolated (sporadic)" "" "" "59y" "" "" "" "" "" "" "" "" "" "" "0000186555" "04255" "00246728" "03009" "Isolated (sporadic)" "" "" "65y" "" "" "" "" "" "" "" "" "" "" "0000186556" "04255" "00246729" "03009" "Isolated (sporadic)" "" "" "40y" "" "" "" "" "" "" "" "" "" "" "0000186557" "04255" "00246730" "03009" "Familial" "" "" "66y" "" "" "" "" "" "" "" "" "" "" "0000186558" "04255" "00246731" "03009" "Familial" "" "" "54y" "" "" "" "" "" "" "" "" "" "" "0000186559" "04255" "00246732" "03009" "Isolated (sporadic)" "" "" "73y" "" "" "" "" "" "" "" "" "" "" "0000186560" "04255" "00246733" "03009" "Isolated (sporadic)" "" "" "65y" "" "" "" "" "" "" "" "" "" "" "0000186561" "04255" "00246734" "03009" "Familial" "" "" "63y" "" "" "" "" "" "" "" "" "" "" "0000186562" "04255" "00246735" "03009" "Isolated (sporadic)" "" "" "74y" "" "" "" "" "" "" "" "" "" "" "0000186563" "04255" "00246736" "03009" "Isolated (sporadic)" "" "" "20y" "" "" "" "" "" "" "" "" "" "" "0000186564" "04255" "00246737" "03009" "Familial" "" "" "26y" "" "" "" "" "" "" "" "" "" "" "0000186565" "04255" "00246738" "03009" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186566" "04255" "00246739" "03009" "Isolated (sporadic)" "" "" "80y" "" "" "" "" "" "" "" "" "" "" "0000186567" "04255" "00246740" "03009" "Isolated (sporadic)" "" "" "17y" "" "" "" "" "" "" "" "" "" "" "0000186568" "04255" "00246741" "03009" "Isolated (sporadic)" "" "" "22y" "" "" "" "" "" "" "" "" "" "" "0000186569" "04255" "00246742" "03009" "Familial" "" "" "31y" "" "" "" "" "" "" "" "" "" "" "0000186570" "04255" "00246743" "03009" "Familial" "" "" "16y" "" "" "" "" "" "" "" "" "" "" "0000186571" "04255" "00246744" "03009" "Isolated (sporadic)" "" "" "29y" "" "" "" "" "" "" "" "" "" "" "0000186572" "04255" "00246745" "03009" "Isolated (sporadic)" "" "" "19y" "" "" "" "" "" "" "" "" "" "" "0000186573" "04255" "00246746" "03009" "Familial" "" "" "23y" "" "" "" "" "" "" "" "" "" "" "0000186574" "04255" "00246747" "03009" "Isolated (sporadic)" "" "" "19y" "" "" "" "" "" "" "" "" "" "" "0000186575" "04255" "00246748" "03009" "Familial" "" "" "29y" "" "" "" "" "" "" "" "" "" "" "0000186576" "04255" "00246749" "03009" "Isolated (sporadic)" "" "" "49y" "" "" "" "" "" "" "" "" "" "" "0000186577" "04255" "00246750" "03009" "Isolated (sporadic)" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "0000186578" "04255" "00246751" "03009" "Isolated (sporadic)" "" "" "19y" "" "" "" "" "" "" "" "" "" "" "0000186579" "04255" "00246752" "03009" "Isolated (sporadic)" "" "" "41y" "" "" "" "" "" "" "" "" "" "" "0000186580" "04255" "00246753" "03009" "Isolated (sporadic)" "" "" "69y" "" "" "" "" "" "" "" "" "" "" "0000186581" "04255" "00246754" "03009" "Isolated (sporadic)" "" "" "70y" "" "" "" "" "" "" "" "" "" "" "0000186582" "04255" "00246755" "03009" "Isolated (sporadic)" "" "" "50y" "" "" "" "" "" "" "" "" "" "" "0000186583" "04255" "00246756" "03009" "Familial" "" "" "23y" "" "" "" "" "" "" "" "" "" "" "0000186584" "04255" "00246757" "03009" "Familial" "" "" "38y" "" "" "" "" "" "" "" "" "" "" "0000186585" "04255" "00246758" "03009" "Familial" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "0000186586" "04255" "00246759" "03009" "Familial" "" "" "39y" "" "" "" "" "" "" "" "" "" "" "0000186587" "04255" "00246760" "03009" "Familial" "" "" "55y" "" "" "" "" "" "" "" "" "" "" "0000186588" "04255" "00246761" "03009" "Familial" "" "" "48y" "" "" "" "" "" "" "" "" "" "" "0000186589" "04255" "00246762" "03009" "Familial" "" "" "60y" "" "" "" "" "" "" "" "" "" "" "0000186590" "04255" "00246763" "03009" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186591" "04255" "00246764" "03009" "Familial" "" "" "36y" "" "" "" "" "" "" "" "" "" "" "0000186592" "04255" "00246765" "03009" "Familial" "" "" "49y" "" "" "" "" "" "" "" "" "" "" "0000186593" "04255" "00246766" "03009" "Familial" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "0000186594" "04255" "00246767" "03009" "Isolated (sporadic)" "" "" "45y" "" "" "" "" "" "" "" "" "" "" "0000186595" "04255" "00246768" "03009" "Isolated (sporadic)" "" "" "24y" "" "" "" "" "" "" "" "" "" "" "0000186596" "04255" "00246769" "03009" "Familial" "" "" "32y" "" "" "" "" "" "" "" "" "" "" "0000186597" "04255" "00246770" "03009" "Familial" "" "" "24y" "" "" "" "" "" "" "" "" "" "" "0000186598" "04255" "00246771" "03009" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186599" "04255" "00246772" "03009" "Isolated (sporadic)" "" "" "45y" "" "" "" "" "" "" "" "" "" "" "0000186600" "04255" "00246773" "03009" "Familial" "" "" "42y" "" "" "" "" "" "" "" "" "" "" "0000186601" "04255" "00246774" "03009" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186602" "04255" "00246775" "03009" "Familial" "" "" "45y" "" "" "" "" "" "" "" "" "" "" "0000186603" "04255" "00246776" "03009" "Isolated (sporadic)" "" "" "46y" "" "" "" "" "" "" "" "" "" "" "0000186604" "04255" "00246777" "03009" "Familial" "" "" "40y" "" "" "" "" "" "" "" "" "" "" "0000186605" "04255" "00246778" "03009" "Isolated (sporadic)" "" "" "18y" "" "" "" "" "" "" "" "" "" "" "0000186606" "04255" "00246779" "03009" "Isolated (sporadic)" "" "" "20y" "" "" "" "" "" "" "" "" "" "" "0000186607" "04255" "00246780" "03009" "Familial" "" "" "44y" "" "" "" "" "" "" "" "" "" "" "0000186608" "04255" "00246781" "03009" "Isolated (sporadic)" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "0000186609" "04255" "00246782" "03009" "Isolated (sporadic)" "" "" "49y" "" "" "" "" "" "" "" "" "" "" "0000186610" "04255" "00246783" "03009" "Familial" "" "" "60y" "" "" "" "" "" "" "" "" "" "" "0000186611" "04255" "00246784" "03009" "Familial" "" "" "37y" "" "" "" "" "" "" "" "" "" "" "0000186612" "04255" "00246785" "03009" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186613" "04255" "00246786" "03009" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186614" "04255" "00246787" "03009" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186615" "04255" "00246788" "03009" "Familial" "" "" "38y" "" "" "" "" "" "" "" "" "" "" "0000186616" "04255" "00246789" "03009" "Isolated (sporadic)" "" "" "53y" "" "" "" "" "" "" "" "" "" "" "0000186617" "04255" "00246790" "03009" "Isolated (sporadic)" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "0000186618" "04255" "00246791" "03009" "Familial" "" "" "35y" "" "" "" "" "" "" "" "" "" "" "0000186619" "04255" "00246792" "03009" "Familial" "" "" "43y" "" "" "" "" "" "" "" "" "" "" "0000186620" "04255" "00246793" "03009" "Isolated (sporadic)" "" "" "28y" "" "" "" "" "" "" "" "" "" "" "0000186621" "04255" "00246794" "03009" "Familial" "" "" "36y" "" "" "" "" "" "" "" "" "" "" "0000186622" "04255" "00246795" "03009" "Familial" "" "" "39y" "" "" "" "" "" "" "" "" "" "" "0000186623" "04255" "00246796" "03009" "Familial" "" "" "26y" "" "" "" "" "" "" "" "" "" "" "0000186624" "04255" "00246797" "03009" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186625" "04255" "00246798" "03009" "Familial" "" "" "40y" "" "" "" "" "" "" "" "" "" "" "0000186626" "04255" "00246799" "03009" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186627" "04255" "00246800" "03009" "Isolated (sporadic)" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "0000186628" "04255" "00246801" "03009" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186629" "04255" "00246802" "03009" "Familial" "" "" "36y" "" "" "" "" "" "" "" "" "" "" "0000186630" "04255" "00246803" "03009" "Isolated (sporadic)" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "0000186631" "04255" "00246804" "03009" "Familial" "" "" "53y" "" "" "" "" "" "" "" "" "" "" "0000186632" "04255" "00246805" "03009" "Familial" "" "" "35y" "" "" "" "" "" "" "" "" "" "" "0000186633" "04255" "00246806" "03009" "Familial" "" "" "54y" "" "" "" "" "" "" "" "" "" "" "0000186634" "04255" "00246807" "03009" "Familial" "" "" "39y" "" "" "" "" "" "" "" "" "" "" "0000186635" "04255" "00246808" "03009" "Familial" "" "" "32y" "" "" "" "" "" "" "" "" "" "" "0000186636" "04255" "00246809" "03009" "Familial" "" "" "25y" "" "" "" "" "" "" "" "" "" "" "0000186637" "04255" "00246810" "03009" "Familial" "" "" "29y" "" "" "" "" "" "" "" "" "" "" "0000186638" "04255" "00246811" "03009" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186639" "04255" "00246812" "03009" "Familial" "" "" "85y" "" "" "" "" "" "" "" "" "" "" "0000186640" "04255" "00246813" "03009" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186641" "04255" "00246814" "03009" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186642" "04255" "00246815" "03009" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186643" "04255" "00246816" "03009" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186644" "04255" "00246817" "03009" "Isolated (sporadic)" "" "" "26y" "" "" "" "" "" "" "" "" "" "" "0000186645" "04255" "00246818" "03009" "Familial" "" "" "50y" "" "" "" "" "" "" "" "" "" "" "0000186646" "04255" "00246819" "03009" "Familial" "" "" "33y" "" "" "" "" "" "" "" "" "" "" "0000186647" "04255" "00246820" "03009" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186648" "04255" "00246821" "03009" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186649" "04255" "00246822" "03009" "Familial" "" "" "71y" "" "" "" "" "" "" "" "" "" "" "0000186650" "04255" "00246823" "03009" "Familial" "" "" "57y" "" "" "" "" "" "" "" "" "" "" "0000186651" "04255" "00246824" "03009" "Familial" "" "" "55y" "" "" "" "" "" "" "" "" "" "" "0000186652" "04255" "00246825" "03009" "Familial" "" "" "52y" "" "" "" "" "" "" "" "" "" "" "0000186653" "04255" "00246826" "03009" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186654" "04255" "00246827" "03009" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186655" "04255" "00246828" "03009" "Isolated (sporadic)" "" "" "37y" "" "" "" "" "" "" "" "" "" "" "0000186656" "04255" "00246829" "03009" "Isolated (sporadic)" "" "" "45y" "" "" "" "" "" "" "" "" "" "" "0000186657" "04255" "00246830" "03009" "Isolated (sporadic)" "" "" "49y" "" "" "" "" "" "" "" "" "" "" "0000186658" "04255" "00246831" "03009" "Familial" "" "" "39y" "" "" "" "" "" "" "" "" "" "" "0000186659" "04255" "00246832" "03009" "Familial" "" "" "57y" "" "" "" "" "" "" "" "" "" "" "0000186660" "04255" "00246833" "03009" "Familial" "" "" "39y" "" "" "" "" "" "" "" "" "" "" "0000186661" "04255" "00246834" "03009" "Isolated (sporadic)" "" "" "32y" "" "" "" "" "" "" "" "" "" "" "0000186662" "04255" "00246835" "03009" "Familial" "" "" "54y" "" "" "" "" "" "" "" "" "" "" "0000186663" "04255" "00246836" "03009" "Isolated (sporadic)" "" "" "58y" "" "" "" "" "" "" "" "" "" "" "0000186664" "04255" "00246837" "03009" "Familial" "" "" "71y" "" "" "" "" "" "" "" "" "" "" "0000186665" "04255" "00246838" "03009" "Familial" "" "" "33y" "" "" "" "" "" "" "" "" "" "" "0000186666" "04255" "00246839" "03009" "Familial" "" "" "42y" "" "" "" "" "" "" "" "" "" "" "0000186667" "04255" "00246840" "03009" "Familial" "" "" "28y" "" "" "" "" "" "" "" "" "" "" "0000186668" "04255" "00246841" "03009" "Familial" "" "" "61y" "" "" "" "" "" "" "" "" "" "" "0000186669" "04255" "00246842" "03009" "Familial" "" "" "61y" "" "" "" "" "" "" "" "" "" "" "0000186670" "04255" "00246843" "03009" "Familial" "" "" "48y" "" "" "" "" "" "" "" "" "" "" "0000186671" "04255" "00246844" "03009" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186672" "04255" "00246845" "03009" "Familial" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "0000186673" "04255" "00246846" "03009" "Familial" "" "" "13y" "" "" "" "" "" "" "" "" "" "" "0000186674" "04255" "00246847" "03009" "Isolated (sporadic)" "" "" "11y" "" "" "" "" "" "" "" "" "" "" "0000186675" "04255" "00246848" "03009" "Isolated (sporadic)" "" "" "13y" "" "" "" "" "" "" "" "" "" "" "0000186676" "04255" "00246849" "03009" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000186677" "04255" "00246850" "03009" "Isolated (sporadic)" "" "" "22y" "" "" "" "" "" "" "" "" "" "" "0000186678" "04255" "00246851" "03009" "Isolated (sporadic)" "" "" "18y" "" "" "" "" "" "" "" "" "" "" "0000186679" "04255" "00246852" "03009" "Isolated (sporadic)" "" "" "26y" "" "" "" "" "" "" "" "" "" "" "0000186680" "04255" "00246853" "03009" "Familial" "" "" "21y" "" "" "" "" "" "" "" "" "" "" "0000186681" "04255" "00246854" "03009" "Isolated (sporadic)" "" "" "19y" "" "" "" "" "" "" "" "" "" "" "0000186682" "04255" "00246855" "03009" "Familial" "" "" "22y" "" "" "" "" "" "" "" "" "" "" "0000186683" "04255" "00246856" "03009" "Isolated (sporadic)" "" "" "44y" "" "" "" "" "" "" "" "" "" "" "0000186684" "04255" "00246857" "03009" "Isolated (sporadic)" "" "" "15y" "" "" "" "" "" "" "" "" "" "" "0000186685" "04255" "00246858" "03009" "Familial" "" "" "44y" "" "" "" "" "" "" "" "" "" "" "0000223032" "00198" "00289420" "01164" "Unknown" "" "Weakness due to upper motor neuron dysfunction (HP:0010549); Tetraparesis (HP:0002273); Abnormality of limbs (HP:0040064); Limb fasciculations (HP:0007289)" "" "" "" "" "" "" "" "" "" "" "" "0000224259" "00198" "00296862" "01164" "Unknown" "" "Abnormality of higher mental function (HP:0011446); Dysarthria (HP:0001260); Dysphagia (HP:0002015); Abnormality of the esophagus (HP:0002031)" "" "" "" "" "" "" "" "" "" "" "" "0000253857" "04255" "00246717" "03009" "Isolated (sporadic)" "" "" "65y" "" "" "" "" "" "" "" "" "" "" "0000257443" "02730" "00362030" "01164" "Unknown" "33y" "(+) Amyotrophic lateral sclerosis,(+) Motor neuron atrophy; Slowly progressive motor neuron disease, 1 motor neuron: right accentuated increased MER of the arms, lateral differentiated abdominal skin reflexes, 2 motor neuron: progressive paresis/atrophy of the m. trapezius right, m. deltoideus right" "" "" "" "" "" "" "" "" "" "" "" "0000269529" "00198" "00374319" "00006" "Familial, autosomal dominant" "" "Proximal and distal muscle weakness with wasting of right lower limbs, cramps and fasciculations" "" "" "" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "" "0000283565" "04214" "00390025" "00000" "Unknown" "11m" "Pale and tilted optic disk associated to hypoplasia, tortuous retinal vessels, non-homogeneous macula" "" "" "" "" "" "" "" "" "Retinal dystrophy" "" "" "0000299414" "04255" "00407026" "00006" "Familial, autosomal dominant" "16y" "incomplete penetrance; site onset limb" "" "" "" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "" "0000299415" "04255" "00407027" "00006" "Familial, autosomal dominant" "32y" "incomplete penetrance; site onset limb" "" "" "" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "" "0000299416" "04255" "00407028" "00006" "Familial, autosomal dominant" "53y" "fast progression; site onset limb" "" "" "" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "" "0000299417" "04255" "00407029" "00006" "Isolated (sporadic)" "14y" "fast progression; site onset limb" "" "" "" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 217 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000035946" "00035876" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035947" "00035877" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000035948" "00035878" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000050628" "00050683" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000057157" "00057196" "1" "01225" "01225" "2016-01-14 14:07:27" "" "" "SEQ-NG" "DNA" "" "" "0000074791" "00074626" "1" "01604" "01604" "2016-07-11 14:07:56" "" "" "SEQ" "DNA" "" "" "0000074792" "00074627" "1" "01604" "01604" "2016-07-11 14:14:59" "" "" "SEQ" "DNA" "" "" "0000150412" "00149556" "1" "02360" "00008" "2013-03-04 17:13:03" "" "" "?" 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"" "0000247832" "00246722" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247833" "00246723" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247834" "00246724" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247835" "00246725" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247836" "00246726" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247837" "00246727" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247838" "00246728" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247839" "00246729" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247840" "00246730" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247841" "00246731" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247842" "00246732" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" 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"0000247920" "00246810" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247921" "00246811" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247922" "00246812" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247923" "00246813" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247924" "00246814" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247925" "00246815" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247926" "00246816" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247927" "00246817" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247928" "00246818" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247929" "00246819" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247930" "00246820" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247931" "00246821" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247932" "00246822" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247933" "00246823" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247934" "00246824" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247935" "00246825" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247936" "00246826" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247937" "00246827" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247938" "00246828" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247939" "00246829" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247940" "00246830" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247941" "00246831" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247942" "00246832" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247943" "00246833" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247944" "00246834" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247945" "00246835" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247946" "00246836" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247947" "00246837" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247948" "00246838" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247949" "00246839" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247950" "00246840" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247951" "00246841" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247952" "00246842" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247953" "00246843" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247954" "00246844" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247955" "00246845" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247956" "00246846" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247957" "00246847" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247958" "00246848" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247959" "00246849" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247960" "00246850" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247961" "00246851" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247962" "00246852" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247963" "00246853" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247964" "00246854" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247965" "00246855" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247966" "00246856" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247967" "00246857" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000247968" "00246858" "1" "03009" "03009" "2013-03-13 14:50:00" "" "" "SEQ" "DNA" "" "" "0000290590" "00289420" "1" "01164" "01164" "2020-03-09 11:33:30" "" "" "SEQ-NG-S" "DNA" "" "" "0000292612" "00291444" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297972" "00296862" "1" "01164" "01164" "2020-04-14 14:24:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000363258" "00362030" "1" "01164" "01164" "2021-04-14 15:57:58" "" "" "SEQ-NG-I" "DNA" "" "" "0000375513" "00374319" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000391266" "00390025" "1" "00000" "03840" "2021-11-08 12:01:50" "" "" "arrayCGH" "DNA" "" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes" "0000408273" "00407026" "1" "00006" "00006" "2022-04-05 18:59:54" "" "" "SEQ" "DNA" "" "" "0000408274" "00407027" "1" "00006" "00006" "2022-04-05 18:59:54" "" "" "SEQ" "DNA" "" "" "0000408275" "00407028" "1" "00006" "00006" "2022-04-05 18:59:54" "" "" "SEQ" "DNA" "" "" "0000408276" "00407029" "1" "00006" "00006" "2022-04-05 18:59:54" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 209 "{{screeningid}}" "{{geneid}}" "0000035946" "FUS" "0000035947" "FUS" "0000035948" "FUS" "0000057157" "FUS" "0000074791" "FUS" "0000074792" "FUS" "0000150412" "FUS" "0000150413" "FUS" "0000150414" "FUS" "0000150415" "FUS" "0000150416" "FUS" "0000150417" "FUS" "0000150418" "FUS" "0000150419" "FUS" "0000150420" "FUS" "0000150421" "FUS" "0000150422" "FUS" "0000150423" "FUS" "0000150424" "FUS" "0000150425" "FUS" "0000150426" "FUS" "0000150427" "FUS" "0000150428" "FUS" "0000150429" "FUS" "0000150430" "FUS" "0000150431" "FUS" "0000150432" "FUS" "0000150433" "FUS" "0000150434" "FUS" "0000150435" "FUS" "0000150436" "FUS" "0000150437" "FUS" "0000150438" "FUS" "0000150439" "FUS" "0000150440" "FUS" "0000150441" "FUS" "0000150442" "FUS" "0000150443" "FUS" "0000150444" "FUS" "0000150445" "FUS" "0000150446" "FUS" "0000150447" "FUS" "0000150448" "FUS" "0000150449" "FUS" "0000150451" "FUS" "0000150503" "FUS" "0000150504" "FUS" "0000150505" "FUS" "0000150515" "FUS" "0000150516" "FUS" "0000150518" "FUS" "0000150519" "FUS" "0000150520" "FUS" "0000150521" "FUS" "0000150522" "FUS" "0000150531" "FUS" "0000150532" "FUS" "0000150534" "FUS" "0000152872" "FUS" "0000247822" "FUS" "0000247823" "FUS" "0000247824" "FUS" "0000247825" "FUS" "0000247826" "FUS" "0000247827" "FUS" "0000247828" "FUS" "0000247829" "FUS" "0000247830" "FUS" "0000247831" "FUS" "0000247832" "FUS" "0000247833" "FUS" "0000247834" "FUS" "0000247835" "FUS" "0000247836" "FUS" "0000247837" "FUS" "0000247838" "FUS" "0000247839" "FUS" "0000247840" "FUS" "0000247841" "FUS" "0000247842" "FUS" "0000247843" "FUS" "0000247844" "FUS" "0000247845" "FUS" "0000247846" "FUS" "0000247847" "FUS" "0000247848" "FUS" "0000247849" "FUS" "0000247850" "FUS" "0000247851" "FUS" "0000247852" "FUS" "0000247853" "FUS" "0000247854" "FUS" "0000247855" "FUS" "0000247856" "FUS" "0000247857" "FUS" "0000247858" "FUS" "0000247859" "FUS" "0000247860" "FUS" "0000247861" "FUS" "0000247862" "FUS" "0000247863" "FUS" "0000247864" "FUS" "0000247865" "FUS" "0000247866" "FUS" "0000247867" "FUS" "0000247868" "FUS" "0000247869" "FUS" "0000247870" "FUS" "0000247871" "FUS" "0000247872" "FUS" "0000247873" "FUS" "0000247874" "FUS" "0000247875" "FUS" "0000247876" "FUS" "0000247877" "FUS" "0000247878" "FUS" "0000247879" "FUS" "0000247880" "FUS" "0000247881" "FUS" "0000247882" "FUS" "0000247883" "FUS" "0000247884" "FUS" "0000247885" "FUS" "0000247886" "FUS" "0000247887" "FUS" "0000247888" "FUS" "0000247889" "FUS" "0000247890" "FUS" "0000247891" "FUS" "0000247892" "FUS" "0000247893" "FUS" "0000247894" "FUS" "0000247895" "FUS" "0000247896" "FUS" "0000247897" "FUS" "0000247898" "FUS" "0000247899" "FUS" "0000247900" "FUS" "0000247901" "FUS" "0000247902" "FUS" "0000247903" "FUS" "0000247904" "FUS" "0000247905" "FUS" "0000247906" "FUS" "0000247907" "FUS" "0000247908" "FUS" "0000247909" "FUS" "0000247910" "FUS" "0000247911" "FUS" "0000247912" "FUS" "0000247913" "FUS" "0000247914" "FUS" "0000247915" "FUS" "0000247916" "FUS" "0000247917" "FUS" "0000247918" "FUS" "0000247919" "FUS" "0000247920" "FUS" "0000247921" "FUS" "0000247922" "FUS" "0000247923" "FUS" "0000247924" "FUS" "0000247925" "FUS" "0000247926" "FUS" "0000247927" "FUS" "0000247928" "FUS" "0000247929" "FUS" "0000247930" "FUS" "0000247931" "FUS" "0000247932" "FUS" "0000247933" "FUS" "0000247934" "FUS" "0000247935" "FUS" "0000247936" "FUS" "0000247937" "FUS" "0000247938" "FUS" "0000247939" "FUS" "0000247940" "FUS" "0000247941" "FUS" "0000247942" "FUS" "0000247943" "FUS" "0000247944" "FUS" "0000247945" "FUS" "0000247946" "FUS" "0000247947" "FUS" "0000247948" "FUS" "0000247949" "FUS" "0000247950" "FUS" "0000247951" "FUS" "0000247952" "FUS" "0000247953" "FUS" "0000247954" "FUS" "0000247955" "FUS" "0000247956" "FUS" "0000247957" "FUS" "0000247958" "FUS" "0000247959" "FUS" "0000247960" "FUS" "0000247961" "FUS" "0000247962" "FUS" "0000247963" "FUS" "0000247964" "FUS" "0000247965" "FUS" "0000247966" "FUS" "0000247967" "FUS" "0000247968" "FUS" "0000363258" "FUS" "0000375513" "FUS" "0000391266" "CLN3" ## 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 = 343 "{{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}}" "0000063071" "1" "10" "16" "31191482" "31191482" "subst" "0.987365" "01164" "FUS_000101" "g.31191482A>G" "" "" "" "" "" "Germline" "" "rs929867" "0" "" "" "g.31180161A>G" "" "benign" "" "0000063072" "1" "10" "16" "31195279" "31195279" "subst" "0.527713" "01164" "FUS_000103" "g.31195279C>T" "" "" "" "" "" "Germline" "" "rs1052352" "0" "" "" "g.31183958C>T" "" "benign" "" "0000063073" "1" "10" "16" "31193942" "31193942" "subst" "0.325687" "01164" "FUS_000102" "g.31193942C>A" "" "" "" "" "" "Germline" "" "rs741810" "0" "" "" "g.31182621C>A" "" "benign" "" "0000079608" "0" "90" "16" "27183151" "31888684" "dup" "0" "00006" "CLN3_000010" "g.27183151_31888684dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.33 cells" "Somatic" "" "" "0" "" "" "g.27171830_31877363dup" "" "pathogenic" "" "0000087445" "0" "50" "16" "31193847" "31193847" "subst" "3.24878E-5" "01225" "FUS_000006" "g.31193847C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.31182526C>T" "" "VUS" "" "0000119864" "1" "90" "16" "31202373" "31202373" "subst" "8.1811E-6" "01604" "FUS_000030" "g.31202373C>T" "" "{PMID:Kim 2015:25457557 }, {DOI:Kim 2015:10.1016/j.neurobiolaging.2014.10.002}" "" "" "" "De novo" "" "" "0" "" "" "g.31191052C>T" "" "pathogenic" "" "0000119865" "1" "90" "16" "31202399" "31202400" "del" "0" "01604" "FUS_000034" "g.31202399_31202400del" "" "{PMID:Kim 2015:25457557 }, {DOI:Kim 2015:10.1016/j.neurobiolaging.2014.10.002}" "" "1509_1510delAG" "" "De novo" "" "" "0" "" "" "g.31191078_31191079del" "" "pathogenic" "" "0000243879" "0" "99" "16" "31202739" "31202739" "subst" "1.62506E-5" "02360" "FUS_000144" "g.31202739C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000243880" "0" "99" "16" "31202739" "31202739" "subst" "1.62506E-5" "02360" "FUS_000144" "g.31202739C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000243881" "0" "99" "16" "31202739" "31202739" "subst" "1.62506E-5" "02360" "FUS_000144" "g.31202739C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000243882" "0" "99" "16" "31202739" "31202739" "subst" "1.62506E-5" "02360" "FUS_000144" "g.31202739C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000243883" "0" "99" "16" "31202739" "31202739" "subst" "1.62506E-5" "02360" "FUS_000144" "g.31202739C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000243884" "0" "99" "16" "31202739" "31202739" "subst" "1.62506E-5" "02360" "FUS_000144" "g.31202739C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000243885" "0" "99" "16" "31202739" "31202739" "subst" "1.62506E-5" "02360" "FUS_000144" "g.31202739C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000243886" "0" "99" "16" "31202739" "31202739" "subst" "1.62506E-5" "02360" "FUS_000144" "g.31202739C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000243887" "0" "99" "16" "31202739" "31202739" "subst" "1.62506E-5" "02360" "FUS_000144" "g.31202739C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000243888" "0" "99" "16" "31202739" "31202739" "subst" "1.62506E-5" "02360" "FUS_000144" "g.31202739C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000243889" "0" "99" "16" "31202739" "31202739" "subst" "1.62506E-5" "02360" "FUS_000144" "g.31202739C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000243890" "0" "99" "16" "31202739" "31202739" "subst" "1.62506E-5" "02360" "FUS_000144" "g.31202739C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000243891" "0" "99" "16" "31202739" "31202739" "subst" "1.62506E-5" "02360" "FUS_000144" "g.31202739C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000243892" "0" "99" "16" "31202739" "31202739" "subst" "1.62506E-5" "02360" "FUS_000144" "g.31202739C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000243893" "0" "99" "16" "31202739" "31202739" "subst" "1.62506E-5" "02360" "FUS_000144" "g.31202739C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000243894" "0" "99" "16" "31202739" "31202739" "subst" "1.62506E-5" "02360" "FUS_000144" "g.31202739C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000243895" "0" "99" "16" "31202740" "31202740" "subst" "4.0627E-6" "02360" "FUS_000146" "g.31202740G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.31191419G>A" "" "pathogenic" "" "0000243896" "0" "99" "16" "31202740" "31202740" "subst" "4.0627E-6" "02360" "FUS_000146" "g.31202740G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.31191419G>A" "" "pathogenic" "" "0000243897" "0" "99" "16" "31202740" "31202740" "subst" "4.0627E-6" "02360" "FUS_000146" "g.31202740G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31191419G>A" "" "pathogenic" "" "0000243898" "0" "99" "16" "31202740" "31202740" "subst" "4.0627E-6" "02360" "FUS_000146" "g.31202740G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31191419G>A" "" "pathogenic" "" "0000243899" "0" "99" "16" "31202740" "31202740" "subst" "4.0627E-6" "02360" "FUS_000146" "g.31202740G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31191419G>A" "" "pathogenic" "" "0000243900" "0" "99" "16" "31202740" "31202740" "subst" "4.0627E-6" "02360" "FUS_000146" "g.31202740G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31191419G>A" "" "pathogenic" "" "0000243901" "0" "99" "16" "31202740" "31202740" "subst" "4.0627E-6" "02360" "FUS_000146" "g.31202740G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.31191419G>A" "" "pathogenic" "" "0000243902" "0" "99" "16" "31202740" "31202740" "subst" "4.0627E-6" "02360" "FUS_000146" "g.31202740G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31191419G>A" "" "pathogenic" "" "0000243903" "0" "99" "16" "31202430" "31202430" "subst" "0" "02360" "FUS_000139" "g.31202430A>G" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.31191109A>G" "" "pathogenic" "" "0000243904" "0" "99" "16" "31202729" "31202729" "subst" "1.21925E-5" "02360" "FUS_000142" "g.31202729C>G" "" "" "" "" "Causes disease in autosomal recessive manner; observed in heterozygous state in asymptomatic individuals and one control individual. /r/Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.31191408C>G" "" "pathogenic" "" "0000243905" "0" "99" "16" "31202739" "31202739" "subst" "0" "02360" "FUS_000145" "g.31202739C>G" "" "" "" "" "Incomplete penetrance. /r/Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.31191418C>G" "" "pathogenic" "" "0000243906" "0" "99" "16" "31202739" "31202739" "subst" "0" "02360" "FUS_000145" "g.31202739C>G" "" "" "" "" "Incomplete penetrance. /r/Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31191418C>G" "" "pathogenic" "" "0000243907" "0" "99" "16" "31202739" "31202739" "subst" "0" "02360" "FUS_000145" "g.31202739C>G" "" "" "" "" "Incomplete penetrance. /r/Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31191418C>G" "" "pathogenic" "" "0000243908" "0" "99" "16" "31202739" "31202739" "subst" "0" "02360" "FUS_000145" "g.31202739C>G" "" "" "" "" "Incomplete penetrance. /r/Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31191418C>G" "" "pathogenic" "" "0000243909" "0" "99" "16" "31196466" "31196466" "subst" "0" "02360" "FUS_000133" "g.31196466C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31185145C>T" "" "pathogenic" "" "0000243910" "0" "99" "16" "31202742" "31202742" "subst" "0" "02360" "FUS_000147" "g.31202742A>G" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31191421A>G" "" "pathogenic" "" "0000243911" "0" "99" "16" "31202749" "31202749" "subst" "0" "02360" "FUS_000149" "g.31202749G>C" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31191428G>C" "" "pathogenic" "" "0000243912" "0" "99" "16" "31202750" "31202750" "subst" "0" "02360" "FUS_000150" "g.31202750G>C" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31191429G>C" "" "pathogenic" "" "0000243913" "0" "99" "16" "31202752" "31202752" "subst" "0" "02360" "FUS_000151" "g.31202752C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31191431C>T" "" "pathogenic" "" "0000243914" "0" "99" "16" "31195720" "31195721" "ins" "0" "02360" "FUS_000126" "g.31195720_31195721insGGAGGT" "" "" "" "" "Hexanucleotide insertion near intron 5 splice donor site predicting alternative splicing resulting in insertion of two amino acids" "Unknown" "no" "" "0" "" "" "g.31184399_31184400insGGAGGT" "" "pathogenic" "" "0000243915" "0" "11" "16" "31195715" "31195720" "del" "0" "02360" "FUS_000125" "g.31195715_31195720del" "" "" "" "" "Observed in multiple controls of multiple studies. /r/Hexanucleotide deletion at intron 5 splice donor site predicting alternative splicing resulting in deletion of two amino acids" "Unknown" "no" "" "0" "" "" "g.31184394_31184399del" "" "benign" "" "0000243916" "0" "99" "16" "31202720" "31202720" "subst" "0" "02360" "FUS_000140" "g.31202720G>T" "" "" "" "" "Double point mutation in coding region causing 2 adjacent amino acid changes" "Unknown" "no" "" "0" "" "" "g.31191399G>T" "" "pathogenic" "" "0000243917" "0" "99" "16" "31202721" "31202721" "subst" "0" "02360" "FUS_000141" "g.31202721G>T" "" "" "" "" "Double point mutation in coding region causing 2 adjacent amino acid changes" "Unknown" "no" "" "0" "" "" "g.31191400G>T" "" "pathogenic" "" "0000243918" "0" "99" "16" "31202731" "31202731" "subst" "0" "02360" "FUS_000143" "g.31202731G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "yes" "" "0" "" "" "g.31191410G>A" "" "pathogenic" "" "0000243919" "0" "99" "16" "31195661" "31195661" "subst" "0" "02360" "FUS_000124" "g.31195661G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31184340G>A" "" "pathogenic" "" "0000243920" "0" "99" "16" "31196437" "31196437" "subst" "4.30645E-6" "02360" "FUS_000132" "g.31196437G>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31185116G>T" "" "pathogenic" "" "0000243921" "0" "99" "16" "31193965" "31193967" "del" "0" "02360" "FUS_000123" "g.31193965_31193967del" "" "" "" "" "Trinucleotide deletion in coding region predicting a deletion of one amino acid" "Unknown" "no" "" "0" "" "" "g.31182644_31182646del" "" "pathogenic" "" "0000243935" "0" "55" "16" "31196307" "31196307" "subst" "0" "02360" "FUS_000127" "g.31196307G>A" "" "" "" "" "Observed in 1 familial ALS patient, absent from 793 control individuals. /r/Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31184986G>A" "" "VUS" "" "0000243936" "0" "55" "16" "31196382" "31196382" "subst" "0.000130997" "02360" "FUS_000128" "g.31196382C>T" "" "" "" "" "Observed in 1 non-familial ALS patient, absent from 793 control individuals. /r/Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31185061C>T" "" "VUS" "" "0000243937" "0" "55" "16" "31196496" "31196496" "subst" "4.28636E-6" "02360" "FUS_000134" "g.31196496A>G" "" "" "" "" "Observed in 1 FTLD patient, not in controls. /r/Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31185175A>G" "" "VUS" "" "0000243945" "0" "99" "16" "31201631" "31201659" "delins" "0" "02360" "FUS_000135" "g.31201631_31201659delinsGGAGGTGGAGG" "" "" "" "" "29 bp deletion and 11 bp insertion predicting an in-frame deletion of 10 amino acids and an insertion of 4 Gly residues" "Unknown" "no" "" "0" "" "" "g.31190310_31190338delinsGGAGGTGGAGG" "" "pathogenic" "" "0000243946" "0" "99" "16" "31202282" "31202282" "del" "0" "02360" "FUS_000137" "g.31202282del" "" "" "" "" "De novo mutation absent from both unaffected parents. /r/Point mutation at spice acceptor site of intron 13 causing out-frame skipping of exon 14" "Unknown" "no" "" "0" "" "" "g.31190961del" "" "pathogenic" "" "0000243947" "0" "99" "16" "31196410" "31196410" "subst" "0" "02360" "FUS_000129" "g.31196410G>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31185089G>T" "" "pathogenic" "" "0000243948" "0" "99" "16" "31196424" "31196424" "subst" "1.30859E-5" "02360" "FUS_000130" "g.31196424G>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31185103G>T" "" "pathogenic" "" "0000243950" "0" "99" "16" "31196436" "31196436" "subst" "1.29134E-5" "02360" "FUS_000131" "g.31196436C>T" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31185115C>T" "" "pathogenic" "" "0000243951" "0" "99" "16" "31202410" "31202410" "subst" "0" "02360" "FUS_000138" "g.31202410G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31191089G>A" "" "pathogenic" "" "0000243952" "0" "99" "16" "31202410" "31202410" "subst" "0" "02360" "FUS_000138" "g.31202410G>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution" "Unknown" "no" "" "0" "" "" "g.31191089G>A" "" "pathogenic" "" "0000244045" "0" "15" "16" "31110245" "31110245" "subst" "0" "02360" "FUS_000122" "g.31110245G>A" "" "" "" "" "Silent point mutation in coding region\r\nVariant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "benign" "" "0000244046" "0" "15" "16" "31101358" "31101358" "subst" "0" "02360" "FUS_000107" "g.31101358C>A" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution\r\nVariant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "benign" "" "0000244047" "0" "15" "16" "31101443" "31101443" "subst" "0" "02360" "FUS_000102" "g.31101443C>A" "" "" "" "" "Silent point mutation in coding region\r\nVariant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Unknown" "" "rs741810" "0" "" "" "" "" "benign" "" "0000244048" "0" "15" "16" "31101449" "31101449" "subst" "0" "02360" "FUS_000108" "g.31101449C>T" "" "" "" "" "Silent point mutation in coding region\r\nVariant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Unknown" "" "rs61733962" "0" "" "" "" "" "benign" "" "0000244049" "0" "15" "16" "31101484" "31101484" "subst" "0" "02360" "FUS_000109" "g.31101484A>G" "" "" "" "" "Point mutation in coding region predicting an amino acid substitution\r\nVariant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "benign" "" "0000244050" "0" "15" "16" "31103916" "31103924" "del" "0" "02360" "FUS_000113" "g.31103916_31103924del" "" "" "" "" "Nonanucleotide deletion in coding region predicting a deletion of three amino acids" "Unknown" "" "" "0" "" "" "g.31092595_31092603del" "" "benign" "" "0000244051" "0" "15" "16" "31103924" "31103925" "ins" "0" "02360" "FUS_000119" "g.31103924_31103925insGGC" "" "" "" "" "Observed in one patient with schizophrenia or autism and 2 controls, not in ALS patients. /r/Trinucleotide insertion in coding region predicting an insertion of one amino acid" "Unknown" "" "rs72550890" "0" "" "" "g.31092603_31092604insGGC" "" "benign" "" "0000244074" "0" "15" "16" "31103867" "31103867" "subst" "0" "02360" "FUS_000111" "g.31103867G>C" "" "" "" "" "Observed in 1 familial ALS patient and 3 controls. /r/Point mutation in coding region predicting an amino acid substitution\r\nVariant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "benign" "" "0000244080" "0" "15" "16" "31103210" "31103221" "del" "0" "02360" "FUS_000110" "g.31103210_31103221del" "" "" "" "" "Observed in 1 patient, not in controls. However, other variation at this hexanucleotide repeat was observed in controls. /r/Dodecanucleotide deletion at intron 5 splice donor site predicting alternative splicing resulting in deletion of four amino acids" "Unknown" "" "" "0" "" "" "g.31091889_31091900del" "" "benign" "" "0000244081" "0" "15" "16" "31103924" "31103925" "ins" "0" "02360" "FUS_000120" "g.31103924_31103925insGGCGGC" "" "" "" "" "Observed in 1 control, not in ALS patients. /r/Hexanucleotide insertion in coding region predicting an insertion of two amino acids" "Unknown" "" "" "0" "" "" "g.31092603_31092604insGGCGGC" "" "benign" "" "0000244082" "0" "15" "16" "31103921" "31103923" "del" "0" "02360" "FUS_000117" "g.31103921_31103923del" "" "" "" "" "Observed in 2 ALS patients, not in controls. Howerver, other variation at this trinucleotide repeat was observed in controls. /r/Trinucleotide deletion in coding region predicting a deletion of one amino acid" "Unknown" "" "rs72550890" "0" "" "" "g.31092600_31092602del" "" "benign" "" "0000244083" "0" "15" "16" "31103919" "31103924" "del" "0" "02360" "FUS_000114" "g.31103919_31103924del" "" "" "" "" "Observed in 4 ALS patients, not in controls. Howerver, other variation at this trinucleotide repeat was observed in controls. /r/Hexanucleotide deletion in coding region predicting a deletion of two amino acids" "Unknown" "" "" "0" "" "" "g.31092598_31092603del" "" "benign" "" "0000244084" "0" "15" "16" "31103913" "31103913" "subst" "0" "02360" "FUS_000112" "g.31103913G>A" "" "" "" "" "Observed in 1 control, not in ALS patients. /r/Point mutation in coding region predicting an amino acid substitution\r\nVariant Error [EREF/EUNCERTAIN]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Unknown" "" "" "0" "" "" "" "" "benign" "" "0000244085" "0" "15" "16" "31103919" "31103930" "del" "0" "02360" "FUS_000116" "g.31103919_31103930del" "" "" "" "" "Observed in 1 ALS patient, not in controls. Howerver, other variation at this trinucleotide repeat was observed in controls. /r/Dodecanucleotide deletion in coding region predicting a deletion of four amino acids" "Unknown" "" "" "0" "" "" "g.31092598_31092609del" "" "benign" "" "0000244086" "0" "15" "16" "31103918" "31103926" "del" "0" "02360" "FUS_000115" "g.31103918_31103926del" "" "" "" "" "Observed in 1 ALS patient and 1 control. /r/Nonanucleotide deletion in coding region predicting a deletion of three amino acids" "Unknown" "" "" "0" "" "" "g.31092597_31092605del" "" "benign" "" "0000244087" "0" "15" "16" "31103923" "31103928" "del" "0" "02360" "FUS_000118" "g.31103923_31103928del" "" "" "" "" "Observed in 1 ALS patient, not in controls. Howerver, other variation at this trinucleotide repeat was observed in controls. /r/Hexanucleotide deletion in coding region predicting a deletion of two amino acids" "Unknown" "" "" "0" "" "" "g.31092602_31092607del" "" "benign" "" "0000244088" "0" "15" "16" "31103925" "31103930" "del" "0" "02360" "FUS_000121" "g.31103925_31103930del" "" "" "" "" "Observed in 1 control, not in ALS patients. /r/Hexanucleotide deletion in coding region predicting a deletion of two amino acids" "Unknown" "" "" "0" "" "" "g.31092604_31092609del" "" "benign" "" "0000250390" "0" "30" "16" "31193983" "31193983" "subst" "0.000251758" "02329" "FUS_000109" "g.31193983A>G" "" "" "" "FUS(NM_004960.4):c.188A>G (p.N63S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31182662A>G" "" "likely benign" "" "0000276916" "0" "10" "16" "31193942" "31193942" "subst" "0.325687" "02330" "FUS_000102" "g.31193942C>A" "" "" "" "FUS(NM_004960.3):c.147C>A (p.G49=), FUS(NM_004960.4):c.147C>A (p.G49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31182621C>A" "" "benign" "" "0000276917" "0" "10" "16" "31202714" "31202715" "del" "0" "02330" "FUS_000172" "g.31202714_31202715del" "" "" "" "FUS(NM_004960.4):c.1542-6_1542-5delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31191393_31191394del" "" "benign" "" "0000276918" "0" "10" "16" "31202715" "31202715" "del" "0" "02330" "FUS_000171" "g.31202715del" "" "" "" "FUS(NM_004960.3):c.1542-5delT, FUS(NM_004960.4):c.1542-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31191394del" "" "benign" "" "0000276920" "0" "10" "16" "31195279" "31195279" "subst" "0.527713" "02330" "FUS_000103" "g.31195279C>T" "" "" "" "FUS(NM_004960.3):c.291C>T (p.Y97=), FUS(NM_004960.4):c.291C>T (p.Y97=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31183958C>T" "" "benign" "" "0000280933" "0" "10" "16" "31193942" "31193942" "subst" "0.325687" "02325" "FUS_000102" "g.31193942C>A" "" "" "" "FUS(NM_004960.3):c.147C>A (p.G49=), FUS(NM_004960.4):c.147C>A (p.G49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31182621C>A" "" "benign" "" "0000280934" "0" "30" "16" "31202715" "31202715" "dup" "0" "02325" "FUS_000170" "g.31202715dup" "" "" "" "FUS(NM_004960.3):c.1542-5dupT, FUS(NM_004960.4):c.1542-4delGinsTG, FUS(NM_004960.4):c.1542-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31191394dup" "" "likely benign" "" "0000280936" "0" "10" "16" "31195279" "31195279" "subst" "0.527713" "02325" "FUS_000103" "g.31195279C>T" "" "" "" "FUS(NM_004960.3):c.291C>T (p.Y97=), FUS(NM_004960.4):c.291C>T (p.Y97=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31183958C>T" "" "benign" "" "0000280938" "0" "10" "16" "31195715" "31195720" "del" "0" "02325" "FUS_000125" "g.31195715_31195720del" "" "" "" "FUS(NM_004960.3):c.518_523delGTGGAG (p.G174_G175del), FUS(NM_004960.4):c.518_523delGTGGAG (p.G174_G175del), FUS(NM_004960.4):c.521_523+3delGAGGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31184394_31184399del" "" "benign" "" "0000280939" "0" "30" "16" "31196390" "31196398" "del" "0" "02325" "FUS_000160" "g.31196390_31196398del" "" "" "" "FUS(NM_004960.4):c.654_662delGGGTGGCAG (p.R218_G220del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31185069_31185077del" "" "likely benign" "" "0000283322" "0" "30" "16" "31201355" "31201355" "subst" "9.33176E-5" "02329" "FUS_000164" "g.31201355C>T" "" "" "" "FUS(NM_004960.3):c.1067-6C>T, FUS(NM_004960.4):c.1067-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31190034C>T" "" "likely benign" "" "0000283323" "0" "30" "16" "31201608" "31201608" "subst" "0" "02329" "FUS_000165" "g.31201608G>T" "" "" "" "FUS(NM_004960.4):c.1181G>T (p.R394L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31190287G>T" "" "likely benign" "" "0000283324" "0" "30" "16" "31202096" "31202096" "subst" "0" "02329" "FUS_000166" "g.31202096T>C" "" "" "" "FUS(NM_004960.4):c.1326T>C (p.N442=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31190775T>C" "" "likely benign" "" "0000283325" "0" "30" "16" "31202351" "31202351" "subst" "6.9308E-5" "02329" "FUS_000167" "g.31202351C>T" "" "" "" "FUS(NM_004960.4):c.1461C>T (p.R487=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31191030C>T" "" "likely benign" "" "0000283326" "0" "30" "16" "31202354" "31202354" "subst" "0.00104769" "02329" "FUS_000168" "g.31202354C>T" "" "" "" "FUS(NM_004960.3):c.1464C>T (p.G488=), FUS(NM_004960.4):c.1464C>T (p.G488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31191033C>T" "" "likely benign" "" "0000283327" "0" "10" "16" "31193942" "31193942" "subst" "0.325687" "02329" "FUS_000102" "g.31193942C>A" "" "" "" "FUS(NM_004960.3):c.147C>A (p.G49=), FUS(NM_004960.4):c.147C>A (p.G49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31182621C>A" "" "benign" "" "0000283328" "0" "10" "16" "31193948" "31193948" "subst" "0.00992423" "02329" "FUS_000108" "g.31193948C>T" "" "" "" "FUS(NM_004960.3):c.153C>T (p.G51=), FUS(NM_004960.4):c.153C>T (p.G51=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31182627C>T" "" "benign" "" "0000283329" "0" "10" "16" "31202714" "31202715" "del" "0" "02329" "FUS_000172" "g.31202714_31202715del" "" "" "" "FUS(NM_004960.4):c.1542-6_1542-5delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31191393_31191394del" "" "benign" "" "0000283330" "0" "30" "16" "31202715" "31202715" "dup" "0" "02329" "FUS_000170" "g.31202715dup" "" "" "" "FUS(NM_004960.3):c.1542-5dupT, FUS(NM_004960.4):c.1542-4delGinsTG, FUS(NM_004960.4):c.1542-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31191394dup" "" "likely benign" "" "0000283331" "0" "10" "16" "31193994" "31193994" "subst" "0.0164578" "02329" "FUS_000152" "g.31193994T>C" "" "" "" "FUS(NM_004960.3):c.190+9T>C, FUS(NM_004960.4):c.190+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31182673T>C" "" "benign" "" "0000283332" "0" "30" "16" "31195186" "31195186" "subst" "0.000641572" "02329" "FUS_000154" "g.31195186T>C" "" "" "" "FUS(NM_004960.3):c.198T>C (p.Y66=), FUS(NM_004960.4):c.198T>C (p.Y66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31183865T>C" "" "likely benign" "" "0000283333" "0" "10" "16" "31195279" "31195279" "subst" "0.527713" "02329" "FUS_000103" "g.31195279C>T" "" "" "" "FUS(NM_004960.3):c.291C>T (p.Y97=), FUS(NM_004960.4):c.291C>T (p.Y97=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31183958C>T" "" "benign" "" "0000283334" "0" "30" "16" "31195715" "31195720" "del" "0" "02329" "FUS_000156" "g.31195715_31195720del" "" "" "" "FUS(NM_004960.3):c.518_523delGTGGAG (p.G174_G175del), FUS(NM_004960.4):c.518_523delGTGGAG (p.G174_G175del), FUS(NM_004960.4):c.521_523+3delGAGGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31184394_31184399del" "" "likely benign" "" "0000284433" "0" "30" "16" "31202354" "31202354" "subst" "0.00104769" "02326" "FUS_000168" "g.31202354C>T" "" "" "" "FUS(NM_004960.3):c.1464C>T (p.G488=), FUS(NM_004960.4):c.1464C>T (p.G488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31191033C>T" "" "likely benign" "" "0000284434" "0" "10" "16" "31193942" "31193942" "subst" "0.325687" "02326" "FUS_000102" "g.31193942C>A" "" "" "" "FUS(NM_004960.3):c.147C>A (p.G49=), FUS(NM_004960.4):c.147C>A (p.G49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31182621C>A" "" "benign" "" "0000284435" "0" "30" "16" "31202715" "31202715" "del" "0" "02326" "FUS_000173" "g.31202715del" "" "" "" "FUS(NM_004960.3):c.1542-5delT, FUS(NM_004960.4):c.1542-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31191394del" "" "likely benign" "" "0000284436" "0" "10" "16" "31202715" "31202715" "dup" "0" "02326" "FUS_000170" "g.31202715dup" "" "" "" "FUS(NM_004960.3):c.1542-5dupT, FUS(NM_004960.4):c.1542-4delGinsTG, FUS(NM_004960.4):c.1542-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31191394dup" "" "benign" "" "0000284438" "0" "90" "16" "31202739" "31202739" "subst" "1.62506E-5" "02326" "FUS_000144" "g.31202739C>T" "" "" "" "FUS(NM_004960.3):c.1561C>T (p.R521C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000284439" "0" "90" "16" "31202740" "31202740" "subst" "4.0627E-6" "02326" "FUS_000146" "g.31202740G>A" "" "" "" "FUS(NM_004960.3):c.1562G>A (p.R521H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31191419G>A" "" "pathogenic" "" "0000284440" "0" "30" "16" "31202744" "31202744" "subst" "0.00129576" "02326" "FUS_000122" "g.31202744G>A" "" "" "" "FUS(NM_004960.3):c.1566G>A (p.R522=), FUS(NM_004960.4):c.1566G>A (p.R522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31191423G>A" "" "likely benign" "" "0000284441" "0" "30" "16" "31195147" "31195147" "subst" "0.000292374" "02326" "FUS_000153" "g.31195147C>G" "" "" "" "FUS(NM_004960.3):c.191-32C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31183826C>G" "" "likely benign" "" "0000284442" "0" "10" "16" "31195279" "31195279" "subst" "0.527713" "02326" "FUS_000103" "g.31195279C>T" "" "" "" "FUS(NM_004960.3):c.291C>T (p.Y97=), FUS(NM_004960.4):c.291C>T (p.Y97=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31183958C>T" "" "benign" "" "0000284443" "0" "10" "16" "31195739" "31195739" "subst" "0.00605702" "02326" "FUS_000157" "g.31195739C>T" "" "" "" "FUS(NM_004960.3):c.523+22C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31184418C>T" "" "benign" "" "0000284444" "0" "10" "16" "31195776" "31195776" "del" "0" "02326" "FUS_000158" "g.31195776del" "" "" "" "FUS(NM_004960.3):c.523+59delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31184455del" "" "benign" "" "0000284445" "0" "30" "16" "31196236" "31196236" "del" "0" "02326" "FUS_000159" "g.31196236del" "" "" "" "FUS(NM_004960.3):c.524-24delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31184915del" "" "likely benign" "" "0000284446" "0" "30" "16" "31199620" "31199620" "del" "0" "02326" "FUS_000163" "g.31199620del" "" "" "" "FUS(NM_004960.3):c.800-26delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31188299del" "" "likely benign" "" "0000287981" "0" "10" "16" "31193942" "31193942" "subst" "0.325687" "01943" "FUS_000102" "g.31193942C>A" "" "" "" "FUS(NM_004960.3):c.147C>A (p.G49=), FUS(NM_004960.4):c.147C>A (p.G49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31182621C>A" "" "benign" "" "0000287982" "0" "10" "16" "31193948" "31193948" "subst" "0.00992423" "01943" "FUS_000108" "g.31193948C>T" "" "" "" "FUS(NM_004960.3):c.153C>T (p.G51=), FUS(NM_004960.4):c.153C>T (p.G51=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31182627C>T" "" "benign" "" "0000287983" "0" "10" "16" "31193994" "31193994" "subst" "0.0164578" "01943" "FUS_000152" "g.31193994T>C" "" "" "" "FUS(NM_004960.3):c.190+9T>C, FUS(NM_004960.4):c.190+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31182673T>C" "" "benign" "" "0000287984" "0" "10" "16" "31195279" "31195279" "subst" "0.527713" "01943" "FUS_000103" "g.31195279C>T" "" "" "" "FUS(NM_004960.3):c.291C>T (p.Y97=), FUS(NM_004960.4):c.291C>T (p.Y97=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31183958C>T" "" "benign" "" "0000287986" "0" "50" "16" "31196417" "31196422" "del" "0" "01943" "FUS_000162" "g.31196417_31196422del" "" "" "" "FUS(NM_004960.3):c.681_686delCGGCGG (p.G230_G231del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31185096_31185101del" "" "VUS" "" "0000351711" "0" "50" "16" "31195715" "31195715" "subst" "0" "01741" "FUS_000174" "g.31195715G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31184394G>A" "" "VUS" "" "0000500706" "0" "95" "16" "31193847" "31193847" "subst" "3.24878E-5" "03009" "FUS_000006" "g.31193847C>T" "" "{PMID:Belzil 2011:21261515}" "" "P18S" "" "Unknown" "" "" "0" "" "" "g.31182526C>T" "" "pathogenic" "" "0000500707" "0" "95" "16" "31193965" "31193967" "del" "0" "03009" "FUS_000007" "g.31193965_31193967del" "" "{PMID:Belzil 2009:19741216}" "" "170_172delCTT / S57del" "" "Unknown" "" "" "0" "" "" "g.31182644_31182646del" "" "pathogenic" "" "0000500708" "0" "95" "16" "31193847" "31193847" "subst" "3.24878E-5" "03009" "FUS_000006" "g.31193847C>T" "" "{PMID:Belzil 2011:21261515}" "" "P18S" "" "Unknown" "" "" "0" "" "" "g.31182526C>T" "" "pathogenic" "" "0000500709" "0" "95" "16" "31195275" "31195279" "delins" "0" "03009" "FUS_000002" "g.31195275_31195279delinsAT" "" "{PMID:Yan 2010:20668259}" "" "287_291 delCCTATinsAT / S96del" "" "Germline" "" "" "0" "" "" "g.31183954_31183958delinsAT" "" "pathogenic" "" "0000500710" "0" "95" "16" "31195538" "31195538" "subst" "4.06105E-6" "03009" "FUS_000008" "g.31195538G>A" "" "{PMID:van Blitterswijk 2012:22645277}" "" "S115N" "" "Unknown" "" "" "0" "" "" "g.31184217G>A" "" "pathogenic" "" "0000500711" "0" "95" "16" "31195624" "31195641" "del" "0" "03009" "FUS_000009" "g.31195624_31195641del" "" "{PMID:Brown 2012:22292843}" "" "430_447delGGACAGCAGCAAAGCTAT / G144Y149del" "" "Unknown" "" "" "0" "" "" "g.31184303_31184320del" "" "pathogenic" "" "0000500712" "0" "95" "16" "31195661" "31195661" "subst" "0" "03009" "FUS_000010" "g.31195661G>A" "" "{PMID:Ticozzi 2009:19741215}" "" "G156E" "" "Germline" "" "" "0" "" "" "g.31184340G>A" "" "pathogenic" "" "0000500713" "0" "95" "16" "31195715" "31195720" "del" "0" "03009" "FUS_000003" "g.31195715_31195720del" "" "{PMID:Kwiatkowski 2009:19251627}" "" "523delGAGGTG / G174-G175del" "" "Germline" "" "" "0" "" "" "g.31184394_31184399del" "" "pathogenic" "" "0000500714" "0" "95" "16" "31195624" "31195641" "del" "0" "03009" "FUS_000009" "g.31195624_31195641del" "" "{PMID:Belzil 2011:21261515}" "" "430_447delGGACAGCAGCAAAGCTAT / G144Y149del" "" "Unknown" "" "" "0" "" "" "g.31184303_31184320del" "" "pathogenic" "" "0000500715" "0" "95" "16" "31195715" "31195720" "del" "0" "03009" "FUS_000003" "g.31195715_31195720del" "" "{PMID:Yan 2010:20668259}" "" "523delGAGGTG / G174-G175del" "" "Germline" "" "" "0" "" "" "g.31184394_31184399del" "" "pathogenic" "" "0000500716" "0" "95" "16" "31196295" "31196295" "subst" "1.2305E-5" "03009" "FUS_000011" "g.31196295G>A" "" "{PMID:Rademakers 2010:20544928}" "" "G187S" "" "Unknown" "" "" "0" "" "" "g.31184974G>A" "" "pathogenic" "" "0000500717" "0" "95" "16" "31196307" "31196307" "subst" "0" "03009" "FUS_000012" "g.31196307G>A" "" "{PMID:Corrado 2009:19861302}" "" "G191S" "" "Germline" "" "" "0" "" "" "g.31184986G>A" "" "pathogenic" "" "0000500718" "0" "95" "16" "31196352" "31196352" "subst" "6.62394E-5" "03009" "FUS_000013" "g.31196352G>A" "" "{PMID:Yan 2010:20668259}" "" "G206S" "" "Germline" "" "" "0" "" "" "g.31185031G>A" "" "pathogenic" "" "0000500719" "0" "95" "16" "31196382" "31196382" "subst" "0.000130997" "03009" "FUS_000014" "g.31196382C>T" "" "{PMID:Corrado 2009:19861302}" "" "R216C" "" "Unknown" "" "" "0" "" "" "g.31185061C>T" "" "pathogenic" "" "0000500720" "0" "95" "16" "31196410" "31196410" "subst" "0" "03009" "FUS_000015" "g.31196410G>T" "" "{PMID:Corrado 2009:19861302}" "" "G225V" "" "Unknown" "" "" "0" "" "" "g.31185089G>T" "" "pathogenic" "" "0000500721" "0" "95" "16" "31196420" "31196422" "del" "0" "03009" "FUS_000005" "g.31196420_31196422del" "" "{PMID:Kwon 2012:22244934}" "" "681_684delGGC / G230delG" "" "Unknown" "" "" "0" "" "" "g.31185099_31185101del" "" "pathogenic" "" "0000500722" "0" "95" "16" "31196424" "31196424" "subst" "1.30859E-5" "03009" "FUS_000016" "g.31196424G>T" "" "{PMID:Corrado 2009:19861302}" "" "G230C" "" "Unknown" "" "" "0" "" "" "g.31185103G>T" "" "pathogenic" "" "0000500723" "0" "95" "16" "31196436" "31196436" "subst" "1.29134E-5" "03009" "FUS_000017" "g.31196436C>T" "" "{PMID:Corrado 2009:19861302}" "" "R234C" "" "Unknown" "" "" "0" "" "" "g.31185115C>T" "" "pathogenic" "" "0000500724" "0" "95" "16" "31196437" "31196437" "subst" "4.30645E-6" "03009" "FUS_000018" "g.31196437G>T" "" "{PMID:Ticozzi 2009:19741215}" "" "R234L" "" "Germline" "" "" "0" "" "" "g.31185116G>T" "" "pathogenic" "" "0000500725" "0" "95" "16" "31196466" "31196466" "subst" "0" "03009" "FUS_000019" "g.31196466C>T" "" "{PMID:Kwiatkowski 2009:19251627}" "" "R244C" "" "Germline" "" "" "0" "" "" "g.31185145C>T" "" "pathogenic" "" "0000500726" "0" "95" "16" "31201623" "31201623" "subst" "0" "03009" "FUS_000020" "g.31201623G>T" "" "{PMID:Kwon 2012:22244934}" "" "G399V" "" "Unknown" "" "" "0" "" "" "g.31190302G>T" "" "pathogenic" "" "0000500727" "0" "95" "16" "31201631" "31201659" "delins" "0" "03009" "FUS_000021" "g.31201631_31201659delinsGGAGGTGGAGG" "" "{PMID:DeJesus-Hernandez 2010:20232451}" "" "" "" "Unknown" "" "" "0" "" "" "g.31190310_31190338delinsGGAGGTGGAGG" "" "pathogenic" "" "0000500728" "0" "95" "16" "31202155" "31202155" "subst" "8.12242E-6" "03009" "FUS_000022" "g.31202155C>T" "" "{PMID:Groen 2010:20142531}" "" "S462F" "" "Germline" "" "" "0" "" "" "g.31190834C>T" "" "pathogenic" "" "0000500729" "0" "95" "16" "31202162" "31202162" "subst" "0" "03009" "FUS_000023" "g.31202162G>T" "" "{PMID:Nagayama 2012:22999566}" "" "M464I" "" "Unknown" "" "" "0" "" "" "g.31190841G>T" "" "pathogenic" "" "0000500730" "0" "95" "16" "31202285" "31202432" "del" "0" "03009" "FUS_000024" "g.31202285_31202432del" "" "{PMID:DeJesus-Hernandez 2010:20232451}" "" "1394_1541del / G466VfsX14" "" "Unknown" "" "" "0" "" "" "g.31190964_31191111del" "" "pathogenic" "" "0000500731" "0" "95" "16" "31202312" "31202313" "dup" "0" "03009" "FUS_000025" "g.31202312_31202313dup" "" "{PMID:Hara 2012:22619056}" "" "1420_1421insGT / G472VfsX57" "" "Germline" "" "" "0" "" "" "g.31190991_31190992dup" "" "pathogenic" "" "0000500732" "0" "95" "16" "31202339" "31202378" "del" "0" "03009" "FUS_000026" "g.31202339_31202378del" "" "{PMID:Yan 2010:20668259}" "" "1449_1488delCTACCGGGGCCGCGGCGGGGACCGTGGAGGCTTCCGAGGG / Y485AfsX514" "" "Germline" "" "" "0" "" "" "g.31191018_31191057del" "" "pathogenic" "" "0000500733" "0" "95" "16" "31202349" "31202349" "subst" "4.07342E-6" "03009" "FUS_000027" "g.31202349C>T" "" "{PMID:van Blitterswijk 2012:22645277}" "" "R487C" "" "Unknown" "" "" "0" "" "" "g.31191028C>T" "" "pathogenic" "" "0000500734" "0" "95" "16" "31202365" "31202365" "del" "0" "03009" "FUS_000028" "g.31202365del" "" "{PMID:Yamashita 2012:22057404}" "" "1475delG / G492EfsX527" "" "Unknown" "" "" "0" "" "" "g.31191044del" "" "pathogenic" "" "0000500735" "0" "95" "16" "31202373" "31202373" "subst" "8.1811E-6" "03009" "FUS_000030" "g.31202373C>T" "" "{PMID: Zou 2012:23046859}" "" "R495X" "" "Unknown" "" "" "0" "" "" "g.31191052C>T" "" "pathogenic" "" "0000500736" "0" "95" "16" "31202373" "31202373" "subst" "8.1811E-6" "03009" "FUS_000030" "g.31202373C>T" "" "{PMID:Waibel 2010:20660363}" "" "R495X" "" "Germline" "" "" "0" "" "" "g.31191052C>T" "" "pathogenic" "" "0000500737" "0" "95" "16" "31202373" "31202373" "subst" "8.1811E-6" "03009" "FUS_000030" "g.31202373C>T" "" "{PMID:Bosco 2010:20699327}" "" "R495X" "" "Germline" "" "" "0" "" "" "g.31191052C>T" "" "pathogenic" "" "0000500738" "0" "95" "16" "31202373" "31202373" "subst" "8.1811E-6" "03009" "FUS_000030" "g.31202373C>T" "" "{PMID:Kwon 2012:22244934}" "" "R495X" "" "Unknown" "" "" "0" "" "" "g.31191052C>T" "" "pathogenic" "" "0000500739" "0" "95" "16" "31202373" "31202373" "subst" "8.1811E-6" "03009" "FUS_000030" "g.31202373C>T" "" "{PMID:van Blitterswijk 2012:22645277}" "" "R495X" "" "Unknown" "" "" "0" "" "" "g.31191052C>T" "" "pathogenic" "" "0000500740" "0" "95" "16" "31202373" "31202373" "del" "0" "03009" "FUS_000029" "g.31202373del" "" "{PMID:Yan 2010:20668259}" "" "1483delC / R495EfsX527" "" "Germline" "" "" "0" "" "" "g.31191052del" "" "pathogenic" "" "0000500741" "0" "95" "16" "31202374" "31202374" "del" "0" "03009" "FUS_000031" "g.31202374del" "" "{PMID:Belzil 2012:22248478}" "" "1484delG / R495QfsX527" "" "Unknown" "" "" "0" "" "" "g.31191053del" "" "pathogenic" "" "0000500742" "0" "95" "16" "31202375" "31202375" "del" "0" "03009" "FUS_000032" "g.31202375del" "" "{PMID:Yan 2010:20668259}" "" "1485delA / G497AfsX527" "" "Germline" "" "" "0" "" "" "g.31191054del" "" "pathogenic" "" "0000500743" "0" "95" "16" "31202396" "31202396" "dup" "0" "03009" "FUS_000033" "g.31202396dup" "" "{PMID:Belzil 2011:21261515}" "" "1506 dupA / R502fsX15" "" "Unknown" "" "" "0" "" "" "g.31191075dup" "" "pathogenic" "" "0000500744" "0" "95" "16" "31202399" "31202400" "del" "0" "03009" "FUS_000034" "g.31202399_31202400del" "" "{PMID:Kwon 2012:22244934}" "" "1507_1508delAG / G503WfsX12" "" "Unknown" "" "" "0" "" "" "g.31191078_31191079del" "" "pathogenic" "" "0000500745" "0" "95" "16" "31202399" "31202400" "del" "0" "03009" "FUS_000034" "g.31202399_31202400del" "" "{PMID:Zou 2012c:23046859}" "" "1509_1510delAG / G504WfsX12" "" "Unknown" "" "" "0" "" "" "g.31191078_31191079del" "" "pathogenic" "" "0000500746" "0" "95" "16" "31202410" "31202410" "subst" "0" "03009" "FUS_000035" "g.31202410G>A" "" "{PMID:Lai 2010:20138404}" "" "G507D" "" "Unknown" "" "" "0" "" "" "g.31191089G>A" "" "pathogenic" "" "0000500747" "0" "95" "16" "31202410" "31202410" "subst" "0" "03009" "FUS_000035" "g.31202410G>A" "" "{PMID:Hewitt 2010:20385912}" "" "G507D" "" "Unknown" "" "" "0" "" "" "g.31191089G>A" "" "pathogenic" "" "0000500748" "0" "95" "16" "31202410" "31202410" "subst" "0" "03009" "FUS_000035" "g.31202410G>A" "" "{PMID:Corrado 2009:19861302}" "" "G507D" "" "Unknown" "" "" "0" "" "" "g.31191089G>A" "" "pathogenic" "" "0000500749" "0" "95" "16" "31202410" "31202410" "subst" "0" "03009" "FUS_000035" "g.31202410G>A" "" "{PMID:Corrado 2009:19861302}" "" "G507D" "" "Unknown" "" "" "0" "" "" "g.31191089G>A" "" "pathogenic" "" "0000500750" "0" "95" "16" "31202417" "31202418" "ins" "0" "03009" "FUS_000004" "g.31202417_31202418insTGCC" "" "{PMID:Yan 2010:20668259}" "" "1527insTGCC / K510WfsX517" "" "Germline" "" "" "0" "" "" "g.31191096_31191097insTGCC" "" "pathogenic" "" "0000500751" "0" "95" "16" "31202418" "31202418" "subst" "0" "03009" "FUS_000036" "g.31202418A>G" "" "{PMID:Syriani 2011:21128870}" "" "K510E" "" "Germline" "" "" "0" "" "" "g.31191097A>G" "" "pathogenic" "" "0000500752" "0" "95" "16" "31202418" "31202418" "subst" "0" "03009" "FUS_000036" "g.31202418A>G" "" "{PMID:Suzuki 2010:20224596}" "" "K510E" "" "Germline" "" "" "0" "" "" "g.31191097A>G" "" "pathogenic" "" "0000500753" "0" "95" "16" "31202419" "31202419" "subst" "0" "03009" "FUS_000037" "g.31202419A>G" "" "{PMID:Waibel 2010:20660363}" "" "K510R" "" "Germline" "" "" "0" "" "" "g.31191098A>G" "" "pathogenic" "" "0000500754" "0" "95" "16" "31202419" "31202419" "subst" "0" "03009" "FUS_000037" "g.31202419A>G" "" "{PMID:Waibel 2010:20660363}" "" "K510R" "" "Germline" "" "" "0" "" "" "g.31191098A>G" "" "pathogenic" "" "0000500755" "0" "95" "16" "31202419" "31202419" "subst" "0" "03009" "FUS_000037" "g.31202419A>G" "" "{PMID:Waibel 2010:20660363}" "" "K510R" "" "Germline" "" "" "0" "" "" "g.31191098A>G" "" "pathogenic" "" "0000500756" "0" "95" "16" "31202427" "31202427" "subst" "0" "03009" "FUS_000038" "g.31202427T>C" "" "{PMID:Suzuki 2010:20224596}" "" "S513P" "" "Germline" "" "" "0" "" "" "g.31191106T>C" "" "pathogenic" "" "0000500757" "0" "95" "16" "31202430" "31202430" "subst" "0" "03009" "FUS_000039" "g.31202430A>G" "" "{PMID:Vance 2009:19251628}" "" "R514G" "" "Germline" "" "" "0" "" "" "g.31191109A>G" "" "pathogenic" "" "0000500758" "0" "95" "16" "31202720" "31202720" "subst" "4.1132E-6" "03009" "FUS_000040" "g.31202720G>C" "" "{PMID:Chiò 2009:19450904}" "" "R514S*" "" "Germline" "" "" "0" "" "" "g.31191399G>C" "" "pathogenic" "" "0000500759" "0" "95" "16" "31202720" "31202720" "subst" "4.1132E-6" "03009" "FUS_000040" "g.31202720G>C" "" "{PMID:Millecamps 2010:20577002}" "" "R514S*" "" "Germline" "" "" "0" "" "" "g.31191399G>C" "" "pathogenic" "" "0000500760" "0" "95" "16" "31202720" "31202720" "subst" "4.1132E-6" "03009" "FUS_000040" "g.31202720G>C" "" "{PMID:Suzuki 2010:20224596}" "" "R514S*" "" "Germline" "" "" "0" "" "" "g.31191399G>C" "" "pathogenic" "" "0000500761" "0" "95" "16" "31202720" "31202720" "subst" "4.1132E-6" "03009" "FUS_000040" "g.31202720G>C" "" "{PMID:Robertson 2011:20561714}" "" "R514S*" "" "Unknown" "" "" "0" "" "" "g.31191399G>C" "" "pathogenic" "" "0000500762" "0" "95" "16" "31202720" "31202720" "subst" "4.1132E-6" "03009" "FUS_000040" "g.31202720G>C" "" "{PMID:Yamashita 2012:22057404}" "" "R514S*" "" "Unknown" "" "" "0" "" "" "g.31191399G>C" "" "pathogenic" "" "0000500763" "0" "95" "16" "31202720" "31202720" "subst" "4.1132E-6" "03009" "FUS_000040" "g.31202720G>C" "" "{PMID:Kwiatkowski 2009:19251627}" "" "R514S*" "" "Germline" "" "" "0" "" "" "g.31191399G>C" "" "pathogenic" "" "0000500764" "0" "95" "16" "31202373" "31202373" "subst" "8.1811E-6" "03009" "FUS_000030" "g.31202373C>T" "" "{PMID:Yan 2010:20668259}" "" "R495X" "" "Germline" "" "" "0" "" "" "g.31191052C>T" "" "pathogenic" "" "0000500765" "0" "95" "16" "31202721" "31202721" "subst" "0" "03009" "FUS_000041" "g.31202721G>T" "" "{PMID:Kwiatkowski 2009:19251627}" "" "G515C" "" "Germline" "" "" "0" "" "" "g.31191400G>T" "" "pathogenic" "" "0000500766" "0" "95" "16" "31202725" "31202725" "subst" "0" "03009" "FUS_000042" "g.31202725A>T" "" "{PMID:Robertson 2011:20561714}" "" "E516V*" "" "Unknown" "" "" "0" "" "" "g.31191404A>T" "" "pathogenic" "" "0000500767" "0" "95" "16" "31202727" "31202727" "subst" "0" "03009" "FUS_000043" "g.31202727C>G" "" "{PMID:Tsai 2011:20472325}" "" "H517D" "" "Germline" "" "" "0" "" "" "g.31191406C>G" "" "pathogenic" "" "0000500768" "0" "95" "16" "31202728" "31202728" "subst" "0" "03009" "FUS_000044" "g.31202728A>C" "" "{PMID:Suzuki 2010:20224596}" "" "H517P" "" "Germline" "" "" "0" "" "" "g.31191407A>C" "" "pathogenic" "" "0000500769" "0" "95" "16" "31202729" "31202729" "subst" "1.21925E-5" "03009" "FUS_000045" "g.31202729C>G" "" "{PMID:Kwiatkowski 2009:19251627}" "" "H517Q" "" "Germline" "" "" "0" "" "" "g.31191408C>G" "" "pathogenic" "" "0000500770" "0" "95" "16" "31202730" "31202730" "subst" "4.06332E-6" "03009" "FUS_000046" "g.31202730A>G" "" "{PMID:Lai 2010:20138404}" "" "R518G" "" "Unknown" "" "" "0" "" "" "g.31191409A>G" "" "pathogenic" "" "0000500771" "0" "95" "16" "31202731" "31202731" "subst" "0" "03009" "FUS_000047" "g.31202731G>A" "" "{PMID:Kwiatkowski 2009:19251627}" "" "R518K" "" "Germline" "" "" "0" "" "" "g.31191410G>A" "" "pathogenic" "" "0000500772" "0" "95" "16" "31202732" "31202735" "del" "0" "03009" "FUS_000048" "g.31202732_31202735del" "" "{PMID:Bäumer 2010:20668261}" "" "1554_1557delACAG / R518del" "" "Unknown" "" "" "0" "" "" "g.31191411_31191414del" "" "pathogenic" "" "0000500773" "0" "95" "16" "31202733" "31202733" "subst" "0" "03009" "FUS_000049" "g.31202733C>T" "" "{PMID:Belzil 2011:21261515}" "" "Q519X" "" "Unknown" "" "" "0" "" "" "g.31191412C>T" "" "pathogenic" "" "0000500774" "0" "95" "16" "31202739" "31202739" "subst" "0" "03009" "FUS_000052" "g.31202739C>A" "" "{PMID:Millecamps 2010:20577002}" "" "R521S" "" "Germline" "" "" "0" "" "" "g.31191418C>A" "" "pathogenic" "" "0000500775" "0" "95" "16" "31202739" "31202739" "subst" "0" "03009" "FUS_000051" "g.31202739C>G" "" "{PMID:Sproviero 2012:22055719}" "" "R521G" "" "Unknown" "" "" "0" "" "" "g.31191418C>G" "" "pathogenic" "" "0000500776" "0" "95" "16" "31202739" "31202739" "subst" "0" "03009" "FUS_000051" "g.31202739C>G" "" "{PMID:Zou 2012c:23046859}" "" "R521G" "" "Unknown" "" "" "0" "" "" "g.31191418C>G" "" "pathogenic" "" "0000500777" "0" "95" "16" "31202739" "31202739" "subst" "0" "03009" "FUS_000051" "g.31202739C>G" "" "{PMID:Kwiatkowski 2009:19251627}" "" "R521G" "" "Germline" "" "" "0" "" "" "g.31191418C>G" "" "pathogenic" "" "0000500778" "0" "95" "16" "31202739" "31202739" "subst" "0" "03009" "FUS_000051" "g.31202739C>G" "" "{PMID:Kwiatkowski 2009:19251627}" "" "R521G" "" "Germline" "" "" "0" "" "" "g.31191418C>G" "" "pathogenic" "" "0000500779" "0" "95" "16" "31202739" "31202739" "subst" "0" "03009" "FUS_000051" "g.31202739C>G" "" "{PMID:Ticozzi 2009:19741215}" "" "R521G" "" "Germline" "" "" "0" "" "" "g.31191418C>G" "" "pathogenic" "" "0000500780" "0" "95" "16" "31202739" "31202739" "subst" "0" "03009" "FUS_000051" "g.31202739C>G" "" "{PMID:Brown 2012:22292843}" "" "R521G" "" "Unknown" "" "" "0" "" "" "g.31191418C>G" "" "pathogenic" "" "0000500781" "0" "95" "16" "31202739" "31202739" "subst" "0" "03009" "FUS_000051" "g.31202739C>G" "" "{PMID:Yan 2010:20668259}" "" "R521G" "" "Germline" "" "" "0" "" "" "g.31191418C>G" "" "pathogenic" "" "0000500782" "0" "95" "16" "31202739" "31202739" "subst" "1.62506E-5" "03009" "FUS_000050" "g.31202739C>T" "" "{PMID:Yamamoto-Watanabe 2010:20621307}" "" "R521C" "" "Germline" "" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000500783" "0" "95" "16" "31202739" "31202739" "subst" "1.62506E-5" "03009" "FUS_000050" "g.31202739C>T" "" "{PMID:Sproviero 2012:22055719}" "" "R521C" "" "Unknown" "" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000500784" "0" "95" "16" "31202739" "31202739" "subst" "1.62506E-5" "03009" "FUS_000050" "g.31202739C>T" "" "{PMID:Chiò 2011:20598774}" "" "R521C" "" "Unknown" "" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000500785" "0" "95" "16" "31202739" "31202739" "subst" "1.62506E-5" "03009" "FUS_000050" "g.31202739C>T" "" "{PMID:Blair 2010:19965854}" "" "R521C" "" "Germline" "" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000500786" "0" "95" "16" "31202739" "31202739" "subst" "1.62506E-5" "03009" "FUS_000050" "g.31202739C>T" "" "{PMID:Drepper 2011:20018407}" "" "R521C" "" "Germline" "" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000500787" "0" "95" "16" "31202739" "31202739" "subst" "1.62506E-5" "03009" "FUS_000050" "g.31202739C>T" "" "{PMID:Drepper 2011:20018407}" "" "R521C" "" "Unknown" "" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000500788" "0" "95" "16" "31202739" "31202739" "subst" "1.62506E-5" "03009" "FUS_000050" "g.31202739C>T" "" "{PMID:Millecamps 2010:20577002}" "" "R521C" "" "Germline" "" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000500789" "0" "95" "16" "31202739" "31202739" "subst" "1.62506E-5" "03009" "FUS_000050" "g.31202739C>T" "" "{PMID:Millecamps 2010:20577002}" "" "R521C" "" "Germline" "" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000500790" "0" "95" "16" "31202739" "31202739" "subst" "1.62506E-5" "03009" "FUS_000050" "g.31202739C>T" "" "{PMID:Millecamps 2010:20577002}" "" "R521C" "" "Germline" "" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000500791" "0" "95" "16" "31202739" "31202739" "subst" "1.62506E-5" "03009" "FUS_000050" "g.31202739C>T" "" "{PMID:Vance 2009:19251628}" "" "R521C" "" "Germline" "" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000500792" "0" "95" "16" "31202739" "31202739" "subst" "1.62506E-5" "03009" "FUS_000050" "g.31202739C>T" "" "{PMID:Syriani 2011:21128870}" "" "R521C" "" "Germline" "" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000500793" "0" "95" "16" "31202739" "31202739" "subst" "1.62506E-5" "03009" "FUS_000050" "g.31202739C>T" "" "{PMID:Suzuki 2010:20224596}" "" "R521C" "" "Germline" "" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000500794" "0" "95" "16" "31202739" "31202739" "subst" "1.62506E-5" "03009" "FUS_000050" "g.31202739C>T" "" "{PMID:Lai 2010:20138404}" "" "R521C" "" "Unknown" "" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000500795" "0" "95" "16" "31202739" "31202739" "subst" "1.62506E-5" "03009" "FUS_000050" "g.31202739C>T" "" "{PMID:Rademakers 2010:20544928}" "" "R521C" "" "Germline" "" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000500796" "0" "95" "16" "31202739" "31202739" "subst" "1.62506E-5" "03009" "FUS_000050" "g.31202739C>T" "" "{PMID:Groen 2010:20142531}" "" "R521C" "" "Germline" "" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000500797" "0" "95" "16" "31202739" "31202739" "subst" "1.62506E-5" "03009" "FUS_000050" "g.31202739C>T" "" "{PMID:Corrado 2009:19861302}" "" "R521C" "" "Unknown" "" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000500798" "0" "95" "16" "31202739" "31202739" "subst" "1.62506E-5" "03009" "FUS_000050" "g.31202739C>T" "" "{PMID:Corrado 2009:19861302}" "" "R521C" "" "Germline" "" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000500799" "0" "95" "16" "31202739" "31202739" "subst" "1.62506E-5" "03009" "FUS_000050" "g.31202739C>T" "" "{PMID:Kwiatkowski 2009:19251627}" "" "R521C" "" "Germline" "" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000500800" "0" "95" "16" "31202739" "31202739" "subst" "1.62506E-5" "03009" "FUS_000050" "g.31202739C>T" "" "{PMID:Kwiatkowski 2009:19251627}" "" "R521C" "" "Germline" "" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000500801" "0" "95" "16" "31202739" "31202739" "subst" "1.62506E-5" "03009" "FUS_000050" "g.31202739C>T" "" "{PMID:Kwiatkowski 2009:19251627}" "" "R521C" "" "Germline" "" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000500802" "0" "95" "16" "31202739" "31202739" "subst" "1.62506E-5" "03009" "FUS_000050" "g.31202739C>T" "" "{PMID:Ticozzi 2009:19741215}" "" "R521C" "" "Germline" "" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000500803" "0" "95" "16" "31202739" "31202739" "subst" "1.62506E-5" "03009" "FUS_000050" "g.31202739C>T" "" "{PMID:Ticozzi 2009:19741215}" "" "R521C" "" "Germline" "" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000500804" "0" "95" "16" "31202739" "31202739" "subst" "1.62506E-5" "03009" "FUS_000050" "g.31202739C>T" "" "{PMID:van Blitterswijk 2012:22645277}" "" "R521C" "" "Germline" "" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000500805" "0" "95" "16" "31202739" "31202739" "subst" "1.62506E-5" "03009" "FUS_000050" "g.31202739C>T" "" "{PMID:Yan 2010:20668259}" "" "R521C" "" "Germline" "" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000500806" "0" "95" "16" "31202739" "31202739" "subst" "1.62506E-5" "03009" "FUS_000050" "g.31202739C>T" "" "{PMID:Yan 2010:20668259}" "" "R521C" "" "Germline" "" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000500807" "0" "95" "16" "31202739" "31202739" "subst" "1.62506E-5" "03009" "FUS_000050" "g.31202739C>T" "" "{PMID:Yan 2010:20668259}" "" "R521C" "" "Germline" "" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000500808" "0" "95" "16" "31202739" "31202739" "subst" "1.62506E-5" "03009" "FUS_000050" "g.31202739C>T" "" "{PMID:Yan 2010:20668259}" "" "R521C" "" "Germline" "" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000500809" "0" "95" "16" "31202739" "31202739" "subst" "1.62506E-5" "03009" "FUS_000050" "g.31202739C>T" "" "{PMID:Yan 2010:20668259}" "" "R521C" "" "Germline" "" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000500810" "0" "95" "16" "31202739" "31202739" "subst" "1.62506E-5" "03009" "FUS_000050" "g.31202739C>T" "" "{PMID:Yan 2010:20668259}" "" "R521C" "" "Germline" "" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000500811" "0" "95" "16" "31202739" "31202739" "subst" "1.62506E-5" "03009" "FUS_000050" "g.31202739C>T" "" "{PMID:Belzil 2009 :19741216}" "" "R521C" "" "Unknown" "" "" "0" "" "" "g.31191418C>T" "" "pathogenic" "" "0000500812" "0" "95" "16" "31202740" "31202740" "subst" "4.0627E-6" "03009" "FUS_000053" "g.31202740G>A" "" "{PMID:Van Damme 2010:19922450}" "" "R521H" "" "Germline" "" "" "0" "" "" "g.31191419G>A" "" "pathogenic" "" "0000500813" "0" "95" "16" "31202740" "31202740" "subst" "4.0627E-6" "03009" "FUS_000053" "g.31202740G>A" "" "{PMID: Van Langenhove 2010:20124201}" "" "R521H" "" "Germline" "" "" "0" "" "" "g.31191419G>A" "" "pathogenic" "" "0000500814" "0" "95" "16" "31202740" "31202740" "subst" "4.0627E-6" "03009" "FUS_000053" "g.31202740G>A" "" "{PMID:Yan 2010:20668259}" "" "R521H" "" "Germline" "" "" "0" "" "" "g.31191419G>A" "" "pathogenic" "" "0000500815" "0" "95" "16" "31202740" "31202740" "subst" "4.0627E-6" "03009" "FUS_000053" "g.31202740G>A" "" "{PMID:Yan 2010:20668259}" "" "R521H" "" "Germline" "" "" "0" "" "" "g.31191419G>A" "" "pathogenic" "" "0000500816" "0" "95" "16" "31202740" "31202740" "subst" "4.0627E-6" "03009" "FUS_000053" "g.31202740G>A" "" "{PMID:Broustal 2010:21158017}" "" "R521H" "" "Germline" "" "" "0" "" "" "g.31191419G>A" "" "pathogenic" "" "0000500817" "0" "95" "16" "31202740" "31202740" "subst" "4.0627E-6" "03009" "FUS_000053" "g.31202740G>A" "" "{PMID:Blair 2010:19965854}" "" "R521H" "" "Germline" "" "" "0" "" "" "g.31191419G>A" "" "pathogenic" "" "0000500818" "0" "95" "16" "31202740" "31202740" "subst" "4.0627E-6" "03009" "FUS_000053" "g.31202740G>A" "" "{PMID:Tsai 2011:20472325}" "" "R521H" "" "Germline" "" "" "0" "" "" "g.31191419G>A" "" "pathogenic" "" "0000500819" "0" "95" "16" "31202740" "31202740" "subst" "4.0627E-6" "03009" "FUS_000053" "g.31202740G>A" "" "{PMID:Millecamps 2010:20577002}" "" "R521H" "" "Germline" "" "" "0" "" "" "g.31191419G>A" "" "pathogenic" "" "0000500820" "0" "95" "16" "31202740" "31202740" "subst" "4.0627E-6" "03009" "FUS_000053" "g.31202740G>A" "" "{PMID:Vance 2009:19251628}" "" "R521H" "" "Germline" "" "" "0" "" "" "g.31191419G>A" "" "pathogenic" "" "0000500821" "0" "95" "16" "31202740" "31202740" "subst" "4.0627E-6" "03009" "FUS_000053" "g.31202740G>A" "" "{PMID:Vance 2009:19251628}" "" "R521H" "" "Germline" "" "" "0" "" "" "g.31191419G>A" "" "pathogenic" "" "0000500822" "0" "95" "16" "31202740" "31202740" "subst" "4.0627E-6" "03009" "FUS_000053" "g.31202740G>A" "" "{PMID:Lai 2010:20138404}" "" "R521H" "" "Unknown" "" "" "0" "" "" "g.31191419G>A" "" "pathogenic" "" "0000500823" "0" "95" "16" "31202740" "31202740" "subst" "4.0627E-6" "03009" "FUS_000053" "g.31202740G>A" "" "{PMID:Zou 2012:22340366}" "" "R521H" "" "Unknown" "" "" "0" "" "" "g.31191419G>A" "" "pathogenic" "" "0000500824" "0" "95" "16" "31202740" "31202740" "subst" "4.0627E-6" "03009" "FUS_000053" "g.31202740G>A" "" "{PMID:Zou 2012:22340366}" "" "R521H" "" "Unknown" "" "" "0" "" "" "g.31191419G>A" "" "pathogenic" "" "0000500825" "0" "95" "16" "31202740" "31202740" "subst" "4.0627E-6" "03009" "FUS_000053" "g.31202740G>A" "" "{PMID:Groen 2010:20142531}" "" "R521H" "" "Germline" "" "" "0" "" "" "g.31191419G>A" "" "pathogenic" "" "0000500826" "0" "95" "16" "31202740" "31202740" "subst" "4.0627E-6" "03009" "FUS_000053" "g.31202740G>A" "" "{PMID:Kwiatkowski 2009:19251627}" "" "R521H" "" "Germline" "" "" "0" "" "" "g.31191419G>A" "" "pathogenic" "" "0000500827" "0" "95" "16" "31202740" "31202740" "subst" "4.0627E-6" "03009" "FUS_000053" "g.31202740G>A" "" "{PMID:van Blitterswijk 2012:22645277}" "" "R521H" "" "Germline" "" "" "0" "" "" "g.31191419G>A" "" "pathogenic" "" "0000500828" "0" "95" "16" "31202740" "31202740" "subst" "4.0627E-6" "03009" "FUS_000053" "g.31202740G>A" "" "{PMID:Belzil 2009 :19741216}" "" "R521H" "" "Unknown" "" "" "0" "" "" "g.31191419G>A" "" "pathogenic" "" "0000500829" "0" "95" "16" "31202740" "31202740" "subst" "4.0627E-6" "03009" "FUS_000053" "g.31202740G>A" "" "{PMID:Belzil 2009 :19741216}" "" "R521H" "" "Germline" "" "" "0" "" "" "g.31191419G>A" "" "pathogenic" "" "0000500830" "0" "95" "16" "31202740" "31202740" "subst" "0" "03009" "FUS_000054" "g.31202740G>T" "" "{PMID:Lattante 2012:22722621}" "" "R521L" "" "Unknown" "" "" "0" "" "" "g.31191419G>T" "" "pathogenic" "" "0000500831" "0" "95" "16" "31202740" "31202740" "subst" "0" "03009" "FUS_000054" "g.31202740G>T" "" "{PMID:Yan 2010:20668259}" "" "R521L" "" "Germline" "" "" "0" "" "" "g.31191419G>T" "" "pathogenic" "" "0000500832" "0" "95" "16" "31202740" "31202740" "subst" "0" "03009" "FUS_000054" "g.31202740G>T" "" "{PMID:Millecamps 2010:20577002}" "" "R521L" "" "Germline" "" "" "0" "" "" "g.31191419G>T" "" "pathogenic" "" "0000500833" "0" "95" "16" "31202740" "31202740" "subst" "0" "03009" "FUS_000054" "g.31202740G>T" "" "{PMID:Zou 2012b:22340366}" "" "R521L" "" "Germline" "" "" "0" "" "" "g.31191419G>T" "" "pathogenic" "" "0000500834" "0" "95" "16" "31202742" "31202742" "subst" "0" "03009" "FUS_000055" "g.31202742A>G" "" "{PMID:Kwiatkowski 2009:19251627}" "" "R522G" "" "Germline" "" "" "0" "" "" "g.31191421A>G" "" "pathogenic" "" "0000500835" "0" "95" "16" "31202748" "31202748" "subst" "4.06237E-6" "03009" "FUS_000056" "g.31202748A>T" "" "{PMID:Hewitt 2010:20385912}" "" "R524W" "" "Germline" "" "" "0" "" "" "g.31191427A>T" "" "pathogenic" "" "0000500836" "0" "95" "16" "31202749" "31202749" "subst" "0" "03009" "FUS_000057" "g.31202749G>C" "" "{PMID:Kwiatkowski 2009:19251627}" "" "R524T" "" "Germline" "" "" "0" "" "" "g.31191428G>C" "" "pathogenic" "" "0000500837" "0" "95" "16" "31202750" "31202750" "subst" "0" "03009" "FUS_000058" "g.31202750G>C" "" "{PMID: Yan 2010:20668259}" "" "R524S" "" "Germline" "" "" "0" "" "" "g.31191429G>C" "" "pathogenic" "" "0000500838" "0" "95" "16" "31202750" "31202750" "subst" "0" "03009" "FUS_000058" "g.31202750G>C" "" "{PMID: Yan 2010:20668259}" "" "R524S" "" "Germline" "" "" "0" "" "" "g.31191429G>C" "" "pathogenic" "" "0000500839" "0" "95" "16" "31202750" "31202750" "subst" "0" "03009" "FUS_000058" "g.31202750G>C" "" "{PMID:Kwiatkowski 2009:19251627}" "" "R524S" "" "Germline" "" "" "0" "" "" "g.31191429G>C" "" "pathogenic" "" "0000500840" "0" "95" "16" "31202752" "31202752" "subst" "0" "03009" "FUS_000001" "g.31202752C>T" "" "{PMID: Mochizuki 2012:22980027}" "" "P525L" "" "Germline" "" "" "0" "" "" "g.31191431C>T" "" "pathogenic" "" "0000500841" "0" "95" "16" "31202752" "31202752" "subst" "0" "03009" "FUS_000001" "g.31202752C>T" "" "{PMID:Conte 2011:21907581}" "" "P525L" "" "Unknown" "" "" "0" "" "" "g.31191431C>T" "" "pathogenic" "" "0000500842" "0" "95" "16" "31202752" "31202752" "subst" "0" "03009" "FUS_000001" "g.31202752C>T" "" "{PMID:Huang 2010:20579074}" "" "P525L" "" "Unknown" "" "" "0" "" "" "g.31191431C>T" "" "pathogenic" "" "0000500843" "0" "95" "16" "31202752" "31202752" "subst" "0" "03009" "FUS_000001" "g.31202752C>T" "" "{PMID:Yan 2010:20668259}" "" "P525L" "" "Germline" "" "" "0" "" "" "g.31191431C>T" "" "pathogenic" "" "0000500844" "0" "95" "16" "31202752" "31202752" "subst" "0" "03009" "FUS_000001" "g.31202752C>T" "" "{PMID:Bäumer 2010:20668261}" "" "P525L" "" "Unknown" "" "" "0" "" "" "g.31191431C>T" "" "pathogenic" "" "0000500845" "0" "95" "16" "31202752" "31202752" "subst" "0" "03009" "FUS_000001" "g.31202752C>T" "" "{PMID:Bäumer 2010:20668261}" "" "P525L" "" "Unknown" "" "" "0" "" "" "g.31191431C>T" "" "pathogenic" "" "0000500846" "0" "95" "16" "31202752" "31202752" "subst" "0" "03009" "FUS_000001" "g.31202752C>T" "" "{PMID:Sproviero 2012:22055719}" "" "P525L" "" "Unknown" "" "" "0" "" "" "g.31191431C>T" "" "pathogenic" "" "0000500847" "0" "95" "16" "31202752" "31202752" "subst" "0" "03009" "FUS_000001" "g.31202752C>T" "" "{PMID:Chiò 2009:19450904}" "" "P525L" "" "Germline" "" "" "0" "" "" "g.31191431C>T" "" "pathogenic" "" "0000500848" "0" "95" "16" "31202752" "31202752" "subst" "0" "03009" "FUS_000001" "g.31202752C>T" "" "{PMID:Zou 2012:23046859}" "" "P525L" "" "Unknown" "" "" "0" "" "" "g.31191431C>T" "" "pathogenic" "" "0000500849" "0" "95" "16" "31202752" "31202752" "subst" "0" "03009" "FUS_000001" "g.31202752C>T" "" "{PMID:Kwiatkowski 2009:19251627}" "" "P525L" "" "Germline" "" "" "0" "" "" "g.31191431C>T" "" "pathogenic" "" "0000500850" "0" "95" "16" "31202752" "31202752" "subst" "0" "03009" "FUS_000001" "g.31202752C>T" "" "{PMID:Brown 2012:22292843}" "" "P525L" "" "Unknown" "" "" "0" "" "" "g.31191431C>T" "" "pathogenic" "" "0000500851" "0" "95" "16" "31202752" "31202752" "subst" "0" "03009" "FUS_000001" "g.31202752C>T" "" "{PMID:Brown 2012:22292843}" "" "P525L" "" "Unknown" "" "" "0" "" "" "g.31191431C>T" "" "pathogenic" "" "0000500852" "0" "95" "16" "31202759" "31202759" "del" "0" "03009" "FUS_000059" "g.31202759del" "" "{PMID:Kwon 2012:22244934}" "" "1581delA / X527YextX" "" "Germline" "" "" "0" "" "" "g.31191438del" "" "pathogenic" "" "0000557949" "0" "30" "16" "31191541" "31191541" "subst" "3.36905E-5" "02329" "FUS_000175" "g.31191541C>T" "" "" "" "FUS(NM_004960.4):c.6C>T (p.A2=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31180220C>T" "" "likely benign" "" "0000557950" "0" "30" "16" "31193847" "31193847" "subst" "0.000117768" "02329" "FUS_000176" "g.31193847C>A" "" "" "" "FUS(NM_004960.4):c.52C>A (p.P18T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31182526C>A" "" "likely benign" "" "0000557951" "0" "50" "16" "31193847" "31193847" "subst" "3.24878E-5" "01943" "FUS_000006" "g.31193847C>T" "" "" "" "FUS(NM_004960.3):c.52C>T (p.P18S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31182526C>T" "" "VUS" "" "0000557953" "0" "30" "16" "31195224" "31195224" "subst" "0" "02329" "FUS_000177" "g.31195224G>A" "" "" "" "FUS(NM_004960.4):c.236G>A (p.G79D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31183903G>A" "" "likely benign" "" "0000557954" "0" "50" "16" "31195280" "31195280" "subst" "4.06095E-6" "02329" "FUS_000178" "g.31195280C>A" "" "" "" "FUS(NM_004960.4):c.292C>A (p.P98T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31183959C>A" "" "VUS" "" "0000557955" "0" "30" "16" "31195511" "31195512" "ins" "0.00093833" "02329" "FUS_000179" "g.31195511_31195512insG" "" "" "" "FUS(NM_004960.4):c.336-19_336-18insG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31184190_31184191insG" "" "likely benign" "" "0000557956" "0" "50" "16" "31195559" "31195559" "subst" "0" "01943" "FUS_000180" "g.31195559A>G" "" "" "" "FUS(NM_004960.3):c.365A>G (p.Y122C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31184238A>G" "" "VUS" "" "0000557957" "0" "30" "16" "31195692" "31195692" "subst" "8.12321E-6" "02329" "FUS_000181" "g.31195692T>A" "" "" "" "FUS(NM_004960.4):c.498T>A (p.G166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31184371T>A" "" "likely benign" "" "0000557958" "0" "30" "16" "31195715" "31195720" "dup" "0" "01943" "FUS_000182" "g.31195715_31195720dup" "" "" "" "FUS(NM_004960.3):c.520_525dupGGAGGT (p.G174_G175dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31184394_31184399dup" "" "likely benign" "" "0000557959" "0" "30" "16" "31196255" "31196255" "subst" "0.00356873" "02329" "FUS_000183" "g.31196255C>T" "" "" "" "FUS(NM_004960.4):c.524-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31184934C>T" "" "likely benign" "" "0000557960" "0" "30" "16" "31196312" "31196312" "subst" "2.05256E-5" "01943" "FUS_000184" "g.31196312C>T" "" "" "" "FUS(NM_004960.3):c.576C>T (p.G192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31184991C>T" "" "likely benign" "" "0000557961" "0" "50" "16" "31196366" "31196366" "subst" "2.08531E-5" "01943" "FUS_000111" "g.31196366G>C" "" "" "" "FUS(NM_004960.3):c.630G>C (p.Q210H), FUS(NM_004960.4):c.630G>C (p.Q210H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31185045G>C" "" "VUS" "" "0000557962" "0" "10" "16" "31196366" "31196366" "subst" "2.08531E-5" "02329" "FUS_000111" "g.31196366G>C" "" "" "" "FUS(NM_004960.3):c.630G>C (p.Q210H), FUS(NM_004960.4):c.630G>C (p.Q210H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31185045G>C" "" "benign" "" "0000557963" "0" "30" "16" "31196411" "31196411" "subst" "0.000556533" "01943" "FUS_000185" "g.31196411C>T" "" "" "" "FUS(NM_004960.3):c.675C>T (p.G225=), FUS(NM_004960.4):c.675C>T (p.G225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31185090C>T" "" "likely benign" "" "0000557964" "0" "30" "16" "31196411" "31196411" "subst" "0.000556533" "02329" "FUS_000185" "g.31196411C>T" "" "" "" "FUS(NM_004960.3):c.675C>T (p.G225=), FUS(NM_004960.4):c.675C>T (p.G225=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31185090C>T" "" "likely benign" "" "0000557965" "0" "10" "16" "31196420" "31196422" "dup" "0" "01943" "FUS_000119" "g.31196420_31196422dup" "" "" "" "FUS(NM_004960.3):c.684_686dupCGG (p.G231dup), FUS(NM_004960.4):c.684_686dupCGG (p.G231dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31185099_31185101dup" "" "benign" "" "0000557966" "0" "30" "16" "31196420" "31196422" "dup" "0" "02325" "FUS_000119" "g.31196420_31196422dup" "" "" "" "FUS(NM_004960.3):c.684_686dupCGG (p.G231dup), FUS(NM_004960.4):c.684_686dupCGG (p.G231dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31185099_31185101dup" "" "likely benign" "" "0000557967" "0" "30" "16" "31196420" "31196422" "dup" "0" "02329" "FUS_000119" "g.31196420_31196422dup" "" "" "" "FUS(NM_004960.3):c.684_686dupCGG (p.G231dup), FUS(NM_004960.4):c.684_686dupCGG (p.G231dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31185099_31185101dup" "" "likely benign" "" "0000557968" "0" "30" "16" "31196423" "31196423" "subst" "0.000119652" "02329" "FUS_000186" "g.31196423T>C" "" "" "" "FUS(NM_004960.4):c.687T>C (p.G229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31185102T>C" "" "likely benign" "" "0000557969" "0" "30" "16" "31196438" "31196438" "subst" "0.000214508" "01943" "FUS_000187" "g.31196438C>T" "" "" "" "FUS(NM_004960.3):c.702C>T (p.R234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31185117C>T" "" "likely benign" "" "0000557970" "0" "30" "16" "31196453" "31196453" "subst" "4.24038E-6" "01943" "FUS_000188" "g.31196453T>C" "" "" "" "FUS(NM_004960.3):c.717T>C (p.Y239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31185132T>C" "" "likely benign" "" "0000557971" "0" "30" "16" "31201063" "31201063" "subst" "4.06072E-6" "02326" "FUS_000189" "g.31201063G>A" "" "" "" "FUS(NM_004960.3):c.1014G>A (p.T338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31189742G>A" "" "likely benign" "" "0000557972" "0" "30" "16" "31201450" "31201450" "subst" "0.00354961" "02329" "FUS_000190" "g.31201450C>A" "" "" "" "FUS(NM_004960.4):c.1156C>A (p.R386=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31190129C>A" "" "likely benign" "" "0000557973" "0" "50" "16" "31201687" "31201687" "subst" "0" "01943" "FUS_000191" "g.31201687G>T" "" "" "" "FUS(NM_004960.3):c.1260G>T (p.Q420H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31190366G>T" "" "VUS" "" "0000557974" "0" "30" "16" "31202440" "31202441" "del" "0" "01943" "FUS_000192" "g.31202440_31202441del" "" "" "" "FUS(NM_004960.3):c.1541+9_1541+10delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31191119_31191120del" "" "likely benign" "" "0000557975" "0" "10" "16" "31202715" "31202715" "dup" "0" "02330" "FUS_000170" "g.31202715dup" "" "" "" "FUS(NM_004960.3):c.1542-5dupT, FUS(NM_004960.4):c.1542-4delGinsTG, FUS(NM_004960.4):c.1542-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31191394dup" "" "benign" "" "0000557976" "0" "30" "16" "31202744" "31202744" "subst" "0.00129576" "01943" "FUS_000122" "g.31202744G>A" "" "" "" "FUS(NM_004960.3):c.1566G>A (p.R522=), FUS(NM_004960.4):c.1566G>A (p.R522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31191423G>A" "" "likely benign" "" "0000557977" "0" "30" "16" "31202744" "31202744" "subst" "0.00129576" "02329" "FUS_000122" "g.31202744G>A" "" "" "" "FUS(NM_004960.3):c.1566G>A (p.R522=), FUS(NM_004960.4):c.1566G>A (p.R522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31191423G>A" "" "likely benign" "" "0000623448" "0" "30" "16" "31195598" "31195598" "subst" "0.000515723" "02325" "FUS_000193" "g.31195598G>A" "" "" "" "FUS(NM_004960.4):c.404G>A (p.S135N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31184277G>A" "" "likely benign" "" "0000623449" "0" "10" "16" "31195715" "31195720" "del" "0" "02326" "FUS_000125" "g.31195715_31195720del" "" "" "" "FUS(NM_004960.3):c.518_523delGTGGAG (p.G174_G175del), FUS(NM_004960.4):c.518_523delGTGGAG (p.G174_G175del), FUS(NM_004960.4):c.521_523+3delGAGGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31184394_31184399del" "" "benign" "" "0000647276" "0" "90" "16" "31202740" "31202740" "subst" "4.0627E-6" "01164" "FUS_000053" "g.31202740G>A" "" "" "" "" "Kwiatowski et al. 2009. Science 323: 1205; Vance et al. 2009. Science 323: 1208; Tradewell et al. 2012. HumMolGenet 21: 136" "Germline" "" "rs121909671" "0" "" "" "g.31191419G>A" "" "pathogenic" "ACMG" "0000649301" "1" "30" "16" "31204751" "31204751" "subst" "0.00300432" "03575" "FUS_000194" "g.31204751A>C" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs146490489}" "Germline" "" "rs146490489" "0" "" "" "g.31193430A>C" "" "likely benign" "" "0000657829" "0" "30" "16" "31193927" "31193927" "subst" "0.000296423" "01943" "FUS_000195" "g.31193927C>T" "" "" "" "FUS(NM_004960.3):c.132C>T (p.S44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31182606C>T" "" "likely benign" "" "0000657830" "0" "30" "16" "31195569" "31195569" "subst" "2.43655E-5" "02326" "FUS_000196" "g.31195569C>G" "" "" "" "FUS(NM_004960.3):c.375C>G (p.P125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31184248C>G" "" "likely benign" "" "0000657831" "0" "90" "16" "31202739" "31202739" "subst" "1.62506E-5" "01943" "FUS_000050" "g.31202739C>T" "" "" "" "FUS(NM_004960.3):c.1561C>T (p.R521C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31191418C>T" "" "pathogenic" "" "0000660681" "0" "90" "16" "31202282" "31202282" "del" "0" "01164" "FUS_000137" "g.31202282del" "" "" "" "" "ACMG grading: PVS1,PM2" "Germline" "" "" "0" "" "" "g.31190961del" "" "pathogenic" "ACMG" "0000680551" "0" "30" "16" "31196396" "31196396" "subst" "0.000136825" "01943" "FUS_000197" "g.31196396C>G" "" "" "" "FUS(NM_004960.3):c.660C>G (p.G220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680552" "0" "30" "16" "31201355" "31201355" "subst" "9.33176E-5" "01943" "FUS_000164" "g.31201355C>T" "" "" "" "FUS(NM_004960.3):c.1067-6C>T, FUS(NM_004960.4):c.1067-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725752" "0" "50" "16" "31196415" "31196415" "subst" "1.33623E-5" "02329" "FUS_000198" "g.31196415G>A" "" "" "" "FUS(NM_004960.4):c.679G>A (p.G227S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725753" "0" "30" "16" "31202354" "31202354" "subst" "0.00104769" "01943" "FUS_000168" "g.31202354C>T" "" "" "" "FUS(NM_004960.3):c.1464C>T (p.G488=), FUS(NM_004960.4):c.1464C>T (p.G488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000763832" "0" "50" "16" "31195685" "31195685" "subst" "0" "01164" "FUS_000199" "g.31195685G>C" "" "" "" "" "ACMG: PM2_SUP, PP3" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000786864" "0" "70" "16" "31202410" "31202410" "subst" "0" "00006" "FUS_000035" "g.31202410G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.31191089G>A" "" "likely pathogenic" "" "0000807364" "0" "50" "16" "31196273" "31196273" "subst" "0" "02327" "FUS_000200" "g.31196273A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807365" "0" "50" "16" "31202310" "31202310" "subst" "4.06739E-6" "02327" "FUS_000201" "g.31202310G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807366" "0" "50" "16" "31202807" "31202807" "subst" "0" "02329" "FUS_000202" "g.31202807G>C" "" "" "" "FUS(NR_028388.2):n.1699G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000820998" "0" "70" "16" "28100001" "34600000" "del" "0" "00000" "CRYM_000000" "g.28100001_34600000del" "" "{PMID:Ruberto 2020:32507954}" "" "CGH array, microdeletion in 16p11.2" "zygosity not written; probable breakpoints; pathogenic in literature; genes ANKS4B,CRYM,NPIPB3,SMG1P3,RRN3P3,MIR3680-1,MIR3680-2,SLC7A5P2,LOC101927814,METTL9,IGSF6,OTOA,OTOAP1,RRN3P1,NPIPB4,NPIPB5,UQCRC2,PDZD9,MOSMO,VWA3A,EEF2K,POLR3E,CDR2,MFSD13B,HS3ST2,USP31,SCNN1G,SCNN1B,COG7,GGA2,EARS2,UBFD1,NDUFAB1,PALB2,DCTN5,PLK1,ERN2,CHP2" "Unknown" "?" "" "0" "" "" "g.28500001_35300000del" "" "likely pathogenic" "" "0000845150" "21" "90" "16" "31195624" "31195641" "del" "0" "00006" "FUS_000009" "g.31195624_31195641del" "1/486 cases" "{PMID:Jiang 2022:33563768}" "" "delG144-Y149" "" "Germline" "" "" "0" "" "" "g.31184303_31184320del" "" "pathogenic" "" "0000845151" "0" "90" "16" "31202749" "31202749" "subst" "0" "00006" "FUS_000203" "g.31202749G>T" "1/486 cases" "{PMID:Jiang 2022:33563768}" "" "R524M" "" "Germline" "" "" "0" "" "" "g.31191428G>T" "" "pathogenic" "" "0000845152" "0" "90" "16" "31202749" "31202749" "subst" "0" "00006" "FUS_000203" "g.31202749G>T" "1/486 cases" "{PMID:Jiang 2022:33563768}" "" "R524M" "" "Germline" "" "" "0" "" "" "g.31191428G>T" "" "pathogenic" "" "0000845153" "0" "90" "16" "31202752" "31202752" "subst" "0" "00006" "FUS_000001" "g.31202752C>T" "1/486 cases" "{PMID:Jiang 2022:33563768}" "" "P525L" "" "De novo" "" "" "0" "" "" "g.31191431C>T" "" "pathogenic" "" "0000854487" "0" "50" "16" "31196382" "31196382" "subst" "0.000130997" "01943" "FUS_000014" "g.31196382C>T" "" "" "" "FUS(NM_004960.3):c.646C>T (p.R216C), FUS(NM_004960.4):c.646C>T (p.R216C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854488" "0" "50" "16" "31201658" "31201658" "subst" "1.22941E-5" "01943" "FUS_000205" "g.31201658C>T" "" "" "" "FUS(NM_004960.3):c.1231C>T (p.P411S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864765" "0" "30" "16" "31195715" "31195720" "del" "0" "01943" "FUS_000003" "g.31195715_31195720del" "" "" "" "FUS(NM_004960.3):c.518_523delGTGGAG (p.G174_G175del), FUS(NM_004960.4):c.518_523delGTGGAG (p.G174_G175del), FUS(NM_004960.4):c.521_523+3delGAGGTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864766" "0" "50" "16" "31201105" "31201105" "subst" "0" "02325" "FUS_000204" "g.31201105C>G" "" "" "" "FUS(NM_004960.4):c.1056C>G (p.D352E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864767" "0" "50" "16" "31202349" "31202349" "subst" "4.07342E-6" "01943" "FUS_000027" "g.31202349C>T" "" "" "" "FUS(NM_004960.3):c.1459C>T (p.R487C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892943" "0" "50" "16" "31196397" "31196399" "del" "3.42062E-5" "02329" "FUS_000206" "g.31196397_31196399del" "" "" "" "FUS(NM_004960.4):c.661_663delAGT (p.S221del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892944" "0" "30" "16" "31201355" "31201355" "subst" "9.33176E-5" "02326" "FUS_000164" "g.31201355C>T" "" "" "" "FUS(NM_004960.3):c.1067-6C>T, FUS(NM_004960.4):c.1067-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914611" "0" "50" "16" "31195253" "31195253" "subst" "1.62441E-5" "02325" "FUS_000207" "g.31195253T>A" "" "" "" "FUS(NM_004960.3):c.265T>A (p.S89T), FUS(NM_004960.4):c.265T>A (p.S89T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926264" "0" "50" "16" "31195544" "31195544" "subst" "0" "02329" "FUS_000208" "g.31195544C>T" "" "" "" "FUS(NM_001170634.1):c.347C>T (p.S116F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926265" "0" "30" "16" "31196247" "31196247" "dup" "0" "02326" "FUS_000209" "g.31196247dup" "" "" "" "FUS(NM_004960.3):c.524-13dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926266" "0" "30" "16" "31196417" "31196422" "del" "0" "02326" "FUS_000162" "g.31196417_31196422del" "" "" "" "FUS(NM_004960.3):c.681_686delCGGCGG (p.G230_G231del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926267" "0" "70" "16" "31202298" "31202298" "del" "0" "02326" "FUS_000210" "g.31202298del" "" "" "" "FUS(NM_004960.3):c.1408delG (p.D470Mfs*59)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000950644" "0" "30" "16" "31195186" "31195186" "subst" "0.000641572" "02326" "FUS_000154" "g.31195186T>C" "" "" "" "FUS(NM_004960.3):c.198T>C (p.Y66=), FUS(NM_004960.4):c.198T>C (p.Y66=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950645" "0" "50" "16" "31195709" "31195720" "del" "0" "02326" "FUS_000110" "g.31195709_31195720del" "" "" "" "FUS(NM_004960.3):c.512_523delGTGGAGGTGGAG (p.G172_G175del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968338" "0" "50" "16" "31195628" "31195628" "subst" "0" "02325" "FUS_000211" "g.31195628A>G" "" "" "" "FUS(NM_004960.4):c.434A>G (p.Q145R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968339" "0" "30" "16" "31201741" "31201741" "dup" "0" "02326" "FUS_000212" "g.31201741dup" "" "" "" "FUS(NM_004960.3):c.1292+22dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002287" "0" "30" "16" "31196369" "31196369" "subst" "0" "01804" "FUS_000213" "g.31196369G>C" "" "" "" "FUS(NM_001170634.1):c.630G>C (p.(Gln210His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002288" "0" "50" "16" "31196407" "31196408" "ins" "0" "01804" "FUS_000214" "g.31196407_31196408insTGG" "" "" "" "FUS(NM_004960.3):c.671_672insTGG (p.(Gly224dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026695" "0" "50" "16" "31195253" "31195253" "subst" "1.62441E-5" "02326" "FUS_000207" "g.31195253T>A" "" "" "" "FUS(NM_004960.3):c.265T>A (p.S89T), FUS(NM_004960.4):c.265T>A (p.S89T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026696" "0" "30" "16" "31196420" "31196422" "dup" "0" "02326" "FUS_000119" "g.31196420_31196422dup" "" "" "" "FUS(NM_004960.3):c.684_686dupCGG (p.G231dup), FUS(NM_004960.4):c.684_686dupCGG (p.G231dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041076" "0" "50" "16" "31195624" "31195641" "del" "0" "01804" "FUS_000009" "g.31195624_31195641del" "" "" "" "FUS(NM_004960.4):c.430_447del (p.(Gly144_Tyr149del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041077" "0" "50" "16" "31201082" "31201082" "subst" "0" "02326" "FUS_000215" "g.31201082C>G" "" "" "" "FUS(NM_004960.3):c.1033C>G (p.P345A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041078" "0" "30" "16" "31201374" "31201374" "subst" "0.000300137" "02326" "FUS_000216" "g.31201374C>T" "" "" "" "FUS(NM_004960.3):c.1080C>T (p.S360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041079" "0" "90" "16" "31202399" "31202400" "del" "0" "02325" "FUS_000034" "g.31202399_31202400del" "" "" "" "FUS(NM_004960.4):c.1509_1510delAG (p.G504Wfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046567" "0" "50" "16" "31196382" "31196382" "subst" "0.000130997" "02325" "FUS_000014" "g.31196382C>T" "" "" "" "FUS(NM_004960.3):c.646C>T (p.R216C), FUS(NM_004960.4):c.646C>T (p.R216C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046568" "0" "50" "16" "31196421" "31196421" "subst" "0" "02326" "FUS_000217" "g.31196421G>A" "" "" "" "FUS(NM_004960.3):c.685G>A (p.G229S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055561" "0" "50" "16" "31201718" "31201718" "subst" "4.09934E-6" "01804" "FUS_000218" "g.31201718C>T" "" "" "" "FUS(NM_004960.4):c.1291C>T (p.(Pro431Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 FUS ## Count = 343 "{{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}}" "0000063071" "00008204" "10" "-54" "0" "-54" "0" "c.-54A>G" "r.(=)" "p.(=)" "" "0000063072" "00008204" "10" "291" "0" "291" "0" "c.291C>T" "r.(=)" "p.(=)" "" "0000063073" "00008204" "10" "147" "0" "147" "0" "c.147C>A" "r.(=)" "p.(=)" "" "0000079608" "00008204" "00" "-4008385" "0" "687506" "0" "c.-4008385_*685925dup" "" "" "" "0000087445" "00008204" "50" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Pro18Ser)" "3" "0000119864" "00008204" "90" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Arg495*)" "14" "0000119865" "00008204" "90" "1509" "0" "1510" "0" "c.1509_1510del" "r.(?)" "p.(Gly504Trpfs*12)" "14" "0000243879" "00008204" "99" "1561" "0" "1561" "0" "c.(1561C>T)" "r.(?)" "p.(Arg521Cys)" "15" "0000243880" "00008204" "99" "1561" "0" "1561" "0" "c.(1561C>T)" "r.(?)" "p.(Arg521Cys)" "15" "0000243881" "00008204" "99" "1561" "0" "1561" "0" "c.(1561C>T)" "r.(?)" "p.(Arg521Cys)" "15" "0000243882" "00008204" "99" "1561" "0" "1561" "0" "c.(1561C>T)" "r.(?)" "p.(Arg521Cys)" "15" "0000243883" "00008204" "99" "1561" "0" "1561" "0" "c.(1561C>T)" "r.(?)" "p.(Arg521Cys)" "15" "0000243884" "00008204" "99" "1561" "0" "1561" "0" "c.(1561C>T)" "r.(?)" "p.(Arg521Cys)" "15" "0000243885" "00008204" "99" "1561" "0" "1561" "0" "c.(1561C>T)" "r.(?)" "p.(Arg521Cys)" "15" "0000243886" "00008204" "99" "1561" "0" "1561" "0" "c.(1561C>T)" "r.(?)" "p.(Arg521Cys)" "15" "0000243887" "00008204" "99" "1561" "0" "1561" "0" "c.(1561C>T)" "r.(?)" "p.(Arg521Cys)" "15" "0000243888" "00008204" "99" "1561" "0" "1561" "0" "c.(1561C>T)" "r.(?)" "p.(Arg521Cys)" "15" "0000243889" "00008204" "99" "1561" "0" "1561" "0" "c.(1561C>T)" "r.(?)" "p.(Arg521Cys)" "15" "0000243890" "00008204" "99" "1561" "0" "1561" "0" "c.(1561C>T)" "r.(?)" "p.(Arg521Cys)" "15" "0000243891" "00008204" "99" "1561" "0" "1561" "0" "c.(1561C>T)" "r.(?)" "p.(Arg521Cys)" "15" "0000243892" "00008204" "99" "1561" "0" "1561" "0" "c.(1561C>T)" "r.(?)" "p.(Arg521Cys)" "15" "0000243893" "00008204" "99" "1561" "0" "1561" "0" "c.(1561C>T)" "r.(?)" "p.(Arg521Cys)" "15" "0000243894" "00008204" "99" "1561" "0" "1561" "0" "c.(1561C>T)" "r.(?)" "p.(Arg521Cys)" "15" "0000243895" "00008204" "99" "1562" "0" "1562" "0" "c.(1562G>A)" "r.(?)" "p.(Arg521His)" "15" "0000243896" "00008204" "99" "1562" "0" "1562" "0" "c.(1562G>A)" "r.(?)" "p.(Arg521His)" "15" "0000243897" "00008204" "99" "1562" "0" "1562" "0" "c.(1562G>A)" "r.(?)" "p.(Arg521His)" "15" "0000243898" "00008204" "99" "1562" "0" "1562" "0" "c.(1562G>A)" "r.(?)" "p.(Arg521His)" "15" "0000243899" "00008204" "99" "1562" "0" "1562" "0" "c.(1562G>A)" "r.(?)" "p.(Arg521His)" "15" "0000243900" "00008204" "99" "1562" "0" "1562" "0" "c.(1562G>A)" "r.(?)" "p.(Arg521His)" "15" "0000243901" "00008204" "99" "1562" "0" "1562" "0" "c.(1562G>A)" "r.(?)" "p.(Arg521His)" "15" "0000243902" "00008204" "99" "1562" "0" "1562" "0" "c.(1562G>A)" "r.(?)" "p.(Arg521His)" "15" "0000243903" "00008204" "99" "1540" "0" "1540" "0" "c.(1540A>G)" "r.(?)" "p.(Arg514Gly)" "14" "0000243904" "00008204" "99" "1551" "0" "1551" "0" "c.(1551C>G)" "r.(?)" "p.(His517Gln)" "15" "0000243905" "00008204" "99" "1561" "0" "1561" "0" "c.(1561C>G)" "r.(?)" "p.(Arg521Gly)" "15" "0000243906" "00008204" "99" "1561" "0" "1561" "0" "c.(1561C>G)" "r.(?)" "p.(Arg521Gly)" "15" "0000243907" "00008204" "99" "1561" "0" "1561" "0" "c.(1561C>G)" "r.(?)" "p.(Arg521Gly)" "15" "0000243908" "00008204" "99" "1561" "0" "1561" "0" "c.(1561C>G)" "r.(?)" "p.(Arg521Gly)" "15" "0000243909" "00008204" "99" "730" "0" "730" "0" "c.(730C>T)" "r.(?)" "p.(Arg244Cys)" "6" "0000243910" "00008204" "99" "1564" "0" "1564" "0" "c.(1564A>G)" "r.(?)" "p.(Arg522Gly)" "15" "0000243911" "00008204" "99" "1571" "0" "1571" "0" "c.(1571G>C)" "r.(?)" "p.(Arg524Thr)" "15" "0000243912" "00008204" "99" "1572" "0" "1572" "0" "c.(1572G>C)" "r.(?)" "p.(Arg524Ser)" "15" "0000243913" "00008204" "99" "1574" "0" "1574" "0" "c.(1574C>T)" "r.(?)" "p.(Pro525Leu)" "15" "0000243914" "00008204" "99" "523" "3" "523" "4" "c.523+3_523+4insGGAGGT" "r.(?)" "p.(=)" "5" "0000243915" "00008204" "11" "521" "0" "523" "3" "c.521_523+3del" "r.(?)" "p.?" "5_5i" "0000243916" "00008204" "99" "1542" "0" "1542" "0" "c.(1542G>T)" "r.(?)" "p.(Arg514Ser)" "15" "0000243917" "00008204" "99" "1543" "0" "1543" "0" "c.(1543G>T)" "r.(?)" "p.(Gly515Cys)" "15" "0000243918" "00008204" "99" "1553" "0" "1553" "0" "c.(1553G>A)" "r.(?)" "p.(Arg518Lys)" "15" "0000243919" "00008204" "99" "467" "0" "467" "0" "c.(467G>A)" "r.(?)" "p.(Gly156Glu)" "5" "0000243920" "00008204" "99" "701" "0" "701" "0" "c.(701G>T)" "r.(?)" "p.(Arg234Leu)" "6" "0000243921" "00008204" "99" "170" "0" "172" "0" "c.(170_172del)" "r.(?)" "p.(Ser57del)" "3" "0000243935" "00008204" "55" "571" "0" "571" "0" "c.(571G>A)" "r.(?)" "p.(Gly191Ser)" "6" "0000243936" "00008204" "55" "646" "0" "646" "0" "c.(646C>T)" "r.(?)" "p.(Arg216Cys)" "6" "0000243937" "00008204" "55" "760" "0" "760" "0" "c.(760A>G)" "r.(?)" "p.(Met254Val)" "6" "0000243945" "00008204" "99" "1204" "0" "1232" "0" "c.(1204_1232delinsGGAGGTGGAGG)" "r.(?)" "p.(Ser402_Pro411delinsGlyGlyGlyGly)" "12" "0000243946" "00008204" "99" "1394" "-2" "1394" "-2" "c.1394-2del" "r.1394_1541del" "p.(=)" "12i_13i" "0000243947" "00008204" "99" "674" "0" "674" "0" "c.(674G>T)" "r.(?)" "p.(Gly225Val)" "6" "0000243948" "00008204" "99" "688" "0" "688" "0" "c.(688G>T)" "r.(?)" "p.(Gly230Cys)" "6" "0000243950" "00008204" "99" "700" "0" "700" "0" "c.(700C>T)" "r.(?)" "p.(Arg234Cys)" "6" "0000243951" "00008204" "99" "1520" "0" "1520" "0" "c.(1520G>A)" "r.(?)" "p.(Gly507Asp)" "14" "0000243952" "00008204" "99" "1520" "0" "1520" "0" "c.(1520G>A)" "r.(?)" "p.(Gly507Asp)" "14" "0000244045" "00008204" "15" "1566" "0" "1566" "0" "c.(1566G>A)" "r.(?)" "p.(=)" "15" "0000244046" "00008204" "15" "62" "0" "62" "0" "c.(62C>A)" "r.(?)" "p.(Pro21His)" "3" "0000244047" "00008204" "15" "147" "0" "147" "0" "c.(147C>A)" "r.(?)" "p.(=)" "3" "0000244048" "00008204" "15" "153" "0" "153" "0" "c.(153C>T)" "r.(?)" "p.(=)" "3" "0000244049" "00008204" "15" "188" "0" "188" "0" "c.(188A>G)" "r.(?)" "p.(Asn63Ser)" "3" "0000244050" "00008204" "15" "678" "0" "686" "0" "c.(678_686del)" "r.(?)" "p.(Gly229_Gly231del)" "6" "0000244051" "00008204" "15" "684" "0" "686" "0" "c.(684_686dup)" "r.(?)" "p.(Gly231dup)" "6" "0000244074" "00008204" "15" "630" "0" "630" "0" "c.(630G>C)" "r.(?)" "p.(Gln210His)" "6" "0000244080" "00008204" "15" "515" "0" "523" "3" "c.515_523+3del" "r.(?)" "p.?" "5_5i" "0000244081" "00008204" "15" "681" "0" "686" "0" "c.(681_686dup)" "r.(?)" "p.(Gly230_Gly231dup)" "6" "0000244082" "00008204" "15" "684" "0" "686" "0" "c.(684_686del)" "r.(?)" "p.(Gly231del)" "6" "0000244083" "00008204" "15" "681" "0" "686" "0" "c.(681_686del)" "r.(?)" "p.(Gly230_Gly231del)" "6" "0000244084" "00008204" "15" "676" "0" "676" "0" "c.(676G>A)" "r.(?)" "p.(Gly226Ser)" "6" "0000244085" "00008204" "15" "681" "0" "692" "0" "c.(681_692del)" "r.(?)" "p.(Gly228_Gly231del)" "6" "0000244086" "00008204" "15" "681" "0" "689" "0" "c.(681_689del)" "r.(?)" "p.(Gly229_Gly231del)" "6" "0000244087" "00008204" "15" "684" "0" "689" "0" "c.(684_689del)" "r.(?)" "p.(Gly230_Gly231del)" "6" "0000244088" "00008204" "15" "688" "0" "693" "0" "c.(688_693del)" "r.(?)" "p.(Gly230_Gly231del)" "6" "0000250390" "00008204" "30" "188" "0" "188" "0" "c.188A>G" "r.(?)" "p.(Asn63Ser)" "" "0000276916" "00008204" "10" "147" "0" "147" "0" "c.147C>A" "r.(?)" "p.(Gly49=)" "" "0000276917" "00008204" "10" "1542" "-6" "1542" "-5" "c.1542-6_1542-5del" "r.spl?" "p.?" "" "0000276918" "00008204" "10" "1542" "-5" "1542" "-5" "c.1542-5del" "r.spl?" "p.?" "" "0000276920" "00008204" "10" "291" "0" "291" "0" "c.291C>T" "r.(?)" "p.(Tyr97=)" "" "0000280933" "00008204" "10" "147" "0" "147" "0" "c.147C>A" "r.(?)" "p.(Gly49=)" "" "0000280934" "00008204" "30" "1542" "-5" "1542" "-5" "c.1542-5dup" "r.spl?" "p.?" "" "0000280936" "00008204" "10" "291" "0" "291" "0" "c.291C>T" "r.(?)" "p.(Tyr97=)" "" "0000280938" "00008204" "10" "521" "0" "523" "3" "c.521_523+3del" "r.spl?" "p.?" "" "0000280939" "00008204" "30" "654" "0" "662" "0" "c.654_662del" "r.(?)" "p.(Arg218_Gly220del)" "" "0000283322" "00008204" "30" "1067" "-6" "1067" "-6" "c.1067-6C>T" "r.(=)" "p.(=)" "" "0000283323" "00008204" "30" "1181" "0" "1181" "0" "c.1181G>T" "r.(?)" "p.(Arg394Leu)" "" "0000283324" "00008204" "30" "1326" "0" "1326" "0" "c.1326T>C" "r.(?)" "p.(Asn442=)" "" "0000283325" "00008204" "30" "1461" "0" "1461" "0" "c.1461C>T" "r.(?)" "p.(Arg487=)" "" "0000283326" "00008204" "30" "1464" "0" "1464" "0" "c.1464C>T" "r.(?)" "p.(Gly488=)" "" "0000283327" "00008204" "10" "147" "0" "147" "0" "c.147C>A" "r.(?)" "p.(Gly49=)" "" "0000283328" "00008204" "10" "153" "0" "153" "0" "c.153C>T" "r.(?)" "p.(Gly51=)" "" "0000283329" "00008204" "10" "1542" "-6" "1542" "-5" "c.1542-6_1542-5del" "r.spl?" "p.?" "" "0000283330" "00008204" "30" "1542" "-5" "1542" "-5" "c.1542-5dup" "r.spl?" "p.?" "" "0000283331" "00008204" "10" "190" "9" "190" "9" "c.190+9T>C" "r.(=)" "p.(=)" "" "0000283332" "00008204" "30" "198" "0" "198" "0" "c.198T>C" "r.(?)" "p.(Tyr66=)" "" "0000283333" "00008204" "10" "291" "0" "291" "0" "c.291C>T" "r.(?)" "p.(Tyr97=)" "" "0000283334" "00008204" "30" "521" "0" "523" "3" "c.521_523+3del" "r.spl?" "p.?" "" "0000284433" "00008204" "30" "1464" "0" "1464" "0" "c.1464C>T" "r.(?)" "p.(Gly488=)" "" "0000284434" "00008204" "10" "147" "0" "147" "0" "c.147C>A" "r.(?)" "p.(Gly49=)" "" "0000284435" "00008204" "30" "1542" "-5" "1542" "-5" "c.1542-5del" "r.spl?" "p.?" "" "0000284436" "00008204" "10" "1542" "-5" "1542" "-5" "c.1542-5dup" "r.spl?" "p.?" "" "0000284438" "00008204" "90" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "" "0000284439" "00008204" "90" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Arg521His)" "" "0000284440" "00008204" "30" "1566" "0" "1566" "0" "c.1566G>A" "r.(?)" "p.(Arg522=)" "" "0000284441" "00008204" "30" "191" "-32" "191" "-32" "c.191-32C>G" "r.(=)" "p.(=)" "" "0000284442" "00008204" "10" "291" "0" "291" "0" "c.291C>T" "r.(?)" "p.(Tyr97=)" "" "0000284443" "00008204" "10" "523" "22" "523" "22" "c.523+22C>T" "r.(=)" "p.(=)" "" "0000284444" "00008204" "10" "523" "59" "523" "59" "c.523+59del" "r.(=)" "p.(=)" "" "0000284445" "00008204" "30" "524" "-24" "524" "-24" "c.524-24del" "r.(=)" "p.(=)" "" "0000284446" "00008204" "30" "800" "-26" "800" "-26" "c.800-26del" "r.(=)" "p.(=)" "" "0000287981" "00008204" "10" "147" "0" "147" "0" "c.147C>A" "r.(?)" "p.(Gly49=)" "" "0000287982" "00008204" "10" "153" "0" "153" "0" "c.153C>T" "r.(?)" "p.(Gly51=)" "" "0000287983" "00008204" "10" "190" "9" "190" "9" "c.190+9T>C" "r.(=)" "p.(=)" "" "0000287984" "00008204" "10" "291" "0" "291" "0" "c.291C>T" "r.(?)" "p.(Tyr97=)" "" "0000287986" "00008204" "50" "681" "0" "686" "0" "c.681_686del" "r.(?)" "p.(Gly230_Gly231del)" "" "0000351711" "00008204" "50" "521" "0" "521" "0" "c.521G>A" "r.(?)" "p.(Gly174Glu)" "" "0000500706" "00008204" "95" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Pro18Ser)" "3" "0000500707" "00008204" "95" "170" "0" "172" "0" "c.170_172del" "r.(?)" "p.(Ser57del)" "3" "0000500708" "00008204" "95" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Pro18Ser)" "4" "0000500709" "00008204" "95" "287" "0" "291" "0" "c.287_291delinsAT" "r.(?)" "p.(Ser96del)" "4" "0000500710" "00008204" "95" "344" "0" "344" "0" "c.344G>A" "r.(?)" "p.(Ser115Asn)" "4" "0000500711" "00008204" "95" "430" "0" "447" "0" "c.430_447del" "r.(?)" "p.(Gly144_Tyr149del)" "5" "0000500712" "00008204" "95" "467" "0" "467" "0" "c.467G>A" "r.(?)" "p.(Gly156Glu)" "5" "0000500713" "00008204" "95" "521" "0" "523" "3" "c.521_523+3del" "r.(?)" "p.(Gly174_Gly175del)" "5" "0000500714" "00008204" "95" "430" "0" "447" "0" "c.430_447del" "r.(?)" "p.(Gly144_Tyr149del)" "6" "0000500715" "00008204" "95" "521" "0" "523" "3" "c.521_523+3del" "r.(?)" "p.(Gly174_Gly175del)" "6" "0000500716" "00008204" "95" "559" "0" "559" "0" "c.559G>A" "r.(?)" "p.(Gly187Ser)" "6" "0000500717" "00008204" "95" "571" "0" "571" "0" "c.571G>A" "r.(?)" "p.(Gly191Ser)" "6" "0000500718" "00008204" "95" "616" "0" "616" "0" "c.616G>A" "r.(?)" "p.(Gly206Ser)" "6" "0000500719" "00008204" "95" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Arg216Cys)" "6" "0000500720" "00008204" "95" "674" "0" "674" "0" "c.674G>T" "r.(?)" "p.(Gly225Val)" "6" "0000500721" "00008204" "95" "684" "0" "686" "0" "c.684_686del" "r.(?)" "p.(Gly231del)" "6" "0000500722" "00008204" "95" "688" "0" "688" "0" "c.688G>T" "r.(?)" "p.(Gly230Cys)" "6" "0000500723" "00008204" "95" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Arg234Cys)" "6" "0000500724" "00008204" "95" "701" "0" "701" "0" "c.701G>T" "r.(?)" "p.(Arg234Leu)" "6" "0000500725" "00008204" "95" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Arg244Cys)" "6" "0000500726" "00008204" "95" "1196" "0" "1196" "0" "c.1196G>T" "r.(?)" "p.(Gly399Val)" "12" "0000500727" "00008204" "95" "1204" "0" "1232" "0" "c.1204_1232delinsGGAGGTGGAGG" "r.(?)" "p.(Ser402_Pro411delinsGlyGlyGlyGly)" "12" "0000500728" "00008204" "95" "1385" "0" "1385" "0" "c.1385C>T" "r.(?)" "p.(Ser462Phe)" "13" "0000500729" "00008204" "95" "1392" "0" "1392" "0" "c.1392G>T" "r.(?)" "p.(Met464Ile)" "13" "0000500730" "00008204" "95" "1395" "0" "1541" "1" "c.1395_1541+1del" "r.(?)" "p.(Gly466Valfs*14)" "14" "0000500731" "00008204" "95" "1422" "0" "1423" "0" "c.1422_1423dup" "r.(?)" "p.(Gly475Valfs*55)" "14" "0000500732" "00008204" "95" "1449" "0" "1488" "0" "c.1449_1488del" "r.(?)" "p.(Tyr484Alafs*32)" "14" "0000500733" "00008204" "95" "1459" "0" "1459" "0" "c.1459C>T" "r.(?)" "p.(Arg487Cys)" "14" "0000500734" "00008204" "95" "1475" "0" "1475" "0" "c.1475del" "r.(?)" "p.(Gly492Glufs*37)" "14" "0000500735" "00008204" "95" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Arg495*)" "14" "0000500736" "00008204" "95" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Arg495*)" "14" "0000500737" "00008204" "95" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Arg495*)" "14" "0000500738" "00008204" "95" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Arg495*)" "14" "0000500739" "00008204" "95" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Arg495*)" "14" "0000500740" "00008204" "95" "1483" "0" "1483" "0" "c.1483del" "r.(?)" "p.(Arg495Glufs*34)" "14" "0000500741" "00008204" "95" "1484" "0" "1484" "0" "c.1484del" "r.(?)" "p.(Arg495Glnfs*34)" "14" "0000500742" "00008204" "95" "1485" "0" "1485" "0" "c.1485del" "r.(?)" "p.(Gly497Alafs*32)" "14" "0000500743" "00008204" "95" "1506" "0" "1506" "0" "c.1506dup" "r.(?)" "p.(Arg503Glnfs*14)" "14" "0000500744" "00008204" "95" "1509" "0" "1510" "0" "c.1509_1510del" "r.(?)" "p.(Gly504Trpfs*12)" "14" "0000500745" "00008204" "95" "1509" "0" "1510" "0" "c.1509_1510del" "r.(?)" "p.(Gly504Trpfs*12)" "14" "0000500746" "00008204" "95" "1520" "0" "1520" "0" "c.1520G>A" "r.(?)" "p.(Gly507Asp)" "14" "0000500747" "00008204" "95" "1520" "0" "1520" "0" "c.1520G>A" "r.(?)" "p.(Gly507Asp)" "14" "0000500748" "00008204" "95" "1520" "0" "1520" "0" "c.1520G>A" "r.(?)" "p.(Gly507Asp)" "14" "0000500749" "00008204" "95" "1520" "0" "1520" "0" "c.1520G>A" "r.(?)" "p.(Gly507Asp)" "14" "0000500750" "00008204" "95" "1527" "0" "1528" "0" "c.1527_1528insTGCC" "r.(?)" "p.(Lys510Cysfs*8)" "14" "0000500751" "00008204" "95" "1528" "0" "1528" "0" "c.1528A>G" "r.(?)" "p.(Lys510Glu)" "14" "0000500752" "00008204" "95" "1528" "0" "1528" "0" "c.1528A>G" "r.(?)" "p.(Lys510Glu)" "14" "0000500753" "00008204" "95" "1529" "0" "1529" "0" "c.1529A>G" "r.(?)" "p.(Lys510Arg)" "14" "0000500754" "00008204" "95" "1529" "0" "1529" "0" "c.1529A>G" "r.(?)" "p.(Lys510Arg)" "14" "0000500755" "00008204" "95" "1529" "0" "1529" "0" "c.1529A>G" "r.(?)" "p.(Lys510Arg)" "14" "0000500756" "00008204" "95" "1537" "0" "1537" "0" "c.1537T>C" "r.(?)" "p.(Ser513Pro)" "14" "0000500757" "00008204" "95" "1540" "0" "1540" "0" "c.1540A>G" "r.(?)" "p.(Arg514Gly)" "14" "0000500758" "00008204" "95" "1542" "0" "1542" "0" "c.1542G>C" "r.(?)" "p.(Arg514Ser)" "14" "0000500759" "00008204" "95" "1542" "0" "1542" "0" "c.1542G>C" "r.(?)" "p.(Arg514Ser)" "14" "0000500760" "00008204" "95" "1542" "0" "1542" "0" "c.1542G>C" "r.(?)" "p.(Arg514Ser)" "14" "0000500761" "00008204" "95" "1542" "0" "1542" "0" "c.1542G>C" "r.(?)" "p.(Arg514Ser)" "14" "0000500762" "00008204" "95" "1542" "0" "1542" "0" "c.1542G>C" "r.(?)" "p.(Arg514Ser)" "14" "0000500763" "00008204" "95" "1542" "0" "1542" "0" "c.1542G>C" "r.(?)" "p.(Arg514Ser)" "14" "0000500764" "00008204" "95" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Arg495*)" "15" "0000500765" "00008204" "95" "1543" "0" "1543" "0" "c.1543G>T" "r.(?)" "p.(Gly515Cys)" "15" "0000500766" "00008204" "95" "1547" "0" "1547" "0" "c.1547A>T" "r.(?)" "p.(Glu516Val)" "15" "0000500767" "00008204" "95" "1549" "0" "1549" "0" "c.1549C>G" "r.(?)" "p.(His517Asp)" "15" "0000500768" "00008204" "95" "1550" "0" "1550" "0" "c.1550A>C" "r.(?)" "p.(His517Pro)" "15" "0000500769" "00008204" "95" "1551" "0" "1551" "0" "c.1551C>G" "r.(?)" "p.(His517Gln)" "15" "0000500770" "00008204" "95" "1552" "0" "1552" "0" "c.1552A>G" "r.(?)" "p.(Arg518Gly)" "15" "0000500771" "00008204" "95" "1553" "0" "1553" "0" "c.1553G>A" "r.(?)" "p.(Arg518Lys)" "15" "0000500772" "00008204" "95" "1554" "0" "1557" "0" "c.1554_1557del" "r.(?)" "p.(Gln519Ilefs*9)" "15" "0000500773" "00008204" "95" "1555" "0" "1555" "0" "c.1555C>T" "r.(?)" "p.(Gln519*)" "15" "0000500774" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>A" "r.(?)" "p.(Arg521Ser)" "15" "0000500775" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>G" "r.(?)" "p.(Arg521Gly)" "15" "0000500776" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>G" "r.(?)" "p.(Arg521Gly)" "15" "0000500777" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>G" "r.(?)" "p.(Arg521Gly)" "15" "0000500778" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>G" "r.(?)" "p.(Arg521Gly)" "15" "0000500779" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>G" "r.(?)" "p.(Arg521Gly)" "15" "0000500780" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>G" "r.(?)" "p.(Arg521Gly)" "15" "0000500781" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>G" "r.(?)" "p.(Arg521Gly)" "15" "0000500782" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "15" "0000500783" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "15" "0000500784" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "15" "0000500785" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "15" "0000500786" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "15" "0000500787" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "15" "0000500788" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "15" "0000500789" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "15" "0000500790" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "15" "0000500791" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "15" "0000500792" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "15" "0000500793" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "15" "0000500794" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "15" "0000500795" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "15" "0000500796" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "15" "0000500797" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "15" "0000500798" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "15" "0000500799" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "15" "0000500800" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "15" "0000500801" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "15" "0000500802" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "15" "0000500803" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "15" "0000500804" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "15" "0000500805" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "15" "0000500806" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "15" "0000500807" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "15" "0000500808" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "15" "0000500809" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "15" "0000500810" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "15" "0000500811" "00008204" "95" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "15" "0000500812" "00008204" "95" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Arg521His)" "15" "0000500813" "00008204" "95" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Arg521His)" "15" "0000500814" "00008204" "95" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Arg521His)" "15" "0000500815" "00008204" "95" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Arg521His)" "15" "0000500816" "00008204" "95" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Arg521His)" "15" "0000500817" "00008204" "95" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Arg521His)" "15" "0000500818" "00008204" "95" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Arg521His)" "15" "0000500819" "00008204" "95" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Arg521His)" "15" "0000500820" "00008204" "95" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Arg521His)" "15" "0000500821" "00008204" "95" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Arg521His)" "15" "0000500822" "00008204" "95" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Arg521His)" "15" "0000500823" "00008204" "95" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Arg521His)" "15" "0000500824" "00008204" "95" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Arg521His)" "15" "0000500825" "00008204" "95" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Arg521His)" "15" "0000500826" "00008204" "95" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Arg521His)" "15" "0000500827" "00008204" "95" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Arg521His)" "15" "0000500828" "00008204" "95" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Arg521His)" "15" "0000500829" "00008204" "95" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Arg521His)" "15" "0000500830" "00008204" "95" "1562" "0" "1562" "0" "c.1562G>T" "r.(?)" "p.(Arg521Leu)" "15" "0000500831" "00008204" "95" "1562" "0" "1562" "0" "c.1562G>T" "r.(?)" "p.(Arg521Leu)" "15" "0000500832" "00008204" "95" "1562" "0" "1562" "0" "c.1562G>T" "r.(?)" "p.(Arg521Leu)" "15" "0000500833" "00008204" "95" "1562" "0" "1562" "0" "c.1562G>T" "r.(?)" "p.(Arg521Leu)" "15" "0000500834" "00008204" "95" "1564" "0" "1564" "0" "c.1564A>G" "r.(?)" "p.(Arg522Gly)" "15" "0000500835" "00008204" "95" "1570" "0" "1570" "0" "c.1570A>T" "r.(?)" "p.(Arg524Trp)" "15" "0000500836" "00008204" "95" "1571" "0" "1571" "0" "c.1571G>C" "r.(?)" "p.(Arg524Thr)" "15" "0000500837" "00008204" "95" "1572" "0" "1572" "0" "c.1572G>C" "r.(?)" "p.(Arg524Ser)" "15" "0000500838" "00008204" "95" "1572" "0" "1572" "0" "c.1572G>C" "r.(?)" "p.(Arg524Ser)" "15" "0000500839" "00008204" "95" "1572" "0" "1572" "0" "c.1572G>C" "r.(?)" "p.(Arg524Ser)" "15" "0000500840" "00008204" "95" "1574" "0" "1574" "0" "c.1574C>T" "r.(?)" "p.(Pro525Leu)" "15" "0000500841" "00008204" "95" "1574" "0" "1574" "0" "c.1574C>T" "r.(?)" "p.(Pro525Leu)" "15" "0000500842" "00008204" "95" "1574" "0" "1574" "0" "c.1574C>T" "r.(?)" "p.(Pro525Leu)" "15" "0000500843" "00008204" "95" "1574" "0" "1574" "0" "c.1574C>T" "r.(?)" "p.(Pro525Leu)" "15" "0000500844" "00008204" "95" "1574" "0" "1574" "0" "c.1574C>T" "r.(?)" "p.(Pro525Leu)" "15" "0000500845" "00008204" "95" "1574" "0" "1574" "0" "c.1574C>T" "r.(?)" "p.(Pro525Leu)" "15" "0000500846" "00008204" "95" "1574" "0" "1574" "0" "c.1574C>T" "r.(?)" "p.(Pro525Leu)" "15" "0000500847" "00008204" "95" "1574" "0" "1574" "0" "c.1574C>T" "r.(?)" "p.(Pro525Leu)" "15" "0000500848" "00008204" "95" "1574" "0" "1574" "0" "c.1574C>T" "r.(?)" "p.(Pro525Leu)" "15" "0000500849" "00008204" "95" "1574" "0" "1574" "0" "c.1574C>T" "r.(?)" "p.(Pro525Leu)" "15" "0000500850" "00008204" "95" "1574" "0" "1574" "0" "c.1574C>T" "r.(?)" "p.(Pro525Leu)" "15" "0000500851" "00008204" "95" "1574" "0" "1574" "0" "c.1574C>T" "r.(?)" "p.(Pro525Leu)" "15" "0000500852" "00008204" "95" "1581" "0" "1581" "0" "c.1581del" "r.(?)" "p.(*527Tyrext*1)" "15" "0000557949" "00008204" "30" "6" "0" "6" "0" "c.6C>T" "r.(?)" "p.(Ala2=)" "" "0000557950" "00008204" "30" "52" "0" "52" "0" "c.52C>A" "r.(?)" "p.(Pro18Thr)" "" "0000557951" "00008204" "50" "52" "0" "52" "0" "c.52C>T" "r.(?)" "p.(Pro18Ser)" "" "0000557953" "00008204" "30" "236" "0" "236" "0" "c.236G>A" "r.(?)" "p.(Gly79Asp)" "" "0000557954" "00008204" "50" "292" "0" "292" "0" "c.292C>A" "r.(?)" "p.(Pro98Thr)" "" "0000557955" "00008204" "30" "336" "-19" "336" "-18" "c.336-19_336-18insG" "r.(=)" "p.(=)" "" "0000557956" "00008204" "50" "365" "0" "365" "0" "c.365A>G" "r.(?)" "p.(Tyr122Cys)" "" "0000557957" "00008204" "30" "498" "0" "498" "0" "c.498T>A" "r.(?)" "p.(Gly166=)" "" "0000557958" "00008204" "30" "521" "0" "523" "3" "c.521_523+3dup" "r.spl?" "p.?" "" "0000557959" "00008204" "30" "524" "-5" "524" "-5" "c.524-5C>T" "r.spl?" "p.?" "" "0000557960" "00008204" "30" "576" "0" "576" "0" "c.576C>T" "r.(?)" "p.(Gly192=)" "" "0000557961" "00008204" "50" "630" "0" "630" "0" "c.630G>C" "r.(?)" "p.(Gln210His)" "" "0000557962" "00008204" "10" "630" "0" "630" "0" "c.630G>C" "r.(?)" "p.(Gln210His)" "" "0000557963" "00008204" "30" "675" "0" "675" "0" "c.675C>T" "r.(?)" "p.(Gly225=)" "" "0000557964" "00008204" "30" "675" "0" "675" "0" "c.675C>T" "r.(?)" "p.(Gly225=)" "" "0000557965" "00008204" "10" "684" "0" "686" "0" "c.684_686dup" "r.(?)" "p.(Gly231dup)" "" "0000557966" "00008204" "30" "684" "0" "686" "0" "c.684_686dup" "r.(?)" "p.(Gly231dup)" "" "0000557967" "00008204" "30" "684" "0" "686" "0" "c.684_686dup" "r.(?)" "p.(Gly231dup)" "" "0000557968" "00008204" "30" "687" "0" "687" "0" "c.687T>C" "r.(?)" "p.(Gly229=)" "" "0000557969" "00008204" "30" "702" "0" "702" "0" "c.702C>T" "r.(?)" "p.(Arg234=)" "" "0000557970" "00008204" "30" "717" "0" "717" "0" "c.717T>C" "r.(?)" "p.(Tyr239=)" "" "0000557971" "00008204" "30" "1014" "0" "1014" "0" "c.1014G>A" "r.(?)" "p.(Thr338=)" "" "0000557972" "00008204" "30" "1156" "0" "1156" "0" "c.1156C>A" "r.(?)" "p.(Arg386=)" "" "0000557973" "00008204" "50" "1260" "0" "1260" "0" "c.1260G>T" "r.(?)" "p.(Gln420His)" "" "0000557974" "00008204" "30" "1541" "9" "1541" "10" "c.1541+9_1541+10del" "r.(=)" "p.(=)" "" "0000557975" "00008204" "10" "1542" "-5" "1542" "-5" "c.1542-5dup" "r.spl?" "p.?" "" "0000557976" "00008204" "30" "1566" "0" "1566" "0" "c.1566G>A" "r.(?)" "p.(Arg522=)" "" "0000557977" "00008204" "30" "1566" "0" "1566" "0" "c.1566G>A" "r.(?)" "p.(Arg522=)" "" "0000623448" "00008204" "30" "404" "0" "404" "0" "c.404G>A" "r.(?)" "p.(Ser135Asn)" "" "0000623449" "00008204" "10" "521" "0" "523" "3" "c.521_523+3del" "r.spl?" "p.?" "" "0000647276" "00008204" "90" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Arg521His)" "" "0000649301" "00008204" "30" "3573" "0" "3573" "0" "c.*1992A>C" "r.(=)" "p.(=)" "" "0000657829" "00008204" "30" "132" "0" "132" "0" "c.132C>T" "r.(?)" "p.(Ser44=)" "" "0000657830" "00008204" "30" "375" "0" "375" "0" "c.375C>G" "r.(?)" "p.(Pro125=)" "" "0000657831" "00008204" "90" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Cys)" "" "0000660681" "00008204" "90" "1394" "-2" "1394" "-2" "c.1394-2del" "r.(?)" "p.(?)" "" "0000680551" "00008204" "30" "660" "0" "660" "0" "c.660C>G" "r.(?)" "p.(Gly220=)" "" "0000680552" "00008204" "30" "1067" "-6" "1067" "-6" "c.1067-6C>T" "r.(=)" "p.(=)" "" "0000725752" "00008204" "50" "679" "0" "679" "0" "c.679G>A" "r.(?)" "p.(Gly227Ser)" "" "0000725753" "00008204" "30" "1464" "0" "1464" "0" "c.1464C>T" "r.(?)" "p.(Gly488=)" "" "0000763832" "00008204" "50" "491" "0" "491" "0" "c.491G>C" "r.(?)" "p.(Ser164Thr)" "" "0000786864" "00008204" "70" "1520" "0" "1520" "0" "c.1520G>A" "r.(?)" "p.(Gly507Asp)" "14" "0000807364" "00008204" "50" "537" "0" "537" "0" "c.537A>C" "r.(?)" "p.(Gln179His)" "" "0000807365" "00008204" "50" "1420" "0" "1420" "0" "c.1420G>C" "r.(?)" "p.(Gly474Arg)" "" "0000807366" "00008204" "50" "1629" "0" "1629" "0" "c.*48G>C" "r.(=)" "p.(=)" "" "0000820998" "00008204" "70" "-3091535" "0" "3398822" "0" "c.-3091535_*3397241del" "r.0?" "p.0?" "" "0000845150" "00008204" "90" "430" "0" "447" "0" "c.430_447del" "r.(?)" "p.(Gly144_Tyr149del)" "" "0000845151" "00008204" "90" "1571" "0" "1571" "0" "c.1571G>T" "r.(?)" "p.(Arg524Met)" "" "0000845152" "00008204" "90" "1571" "0" "1571" "0" "c.1571G>T" "r.(?)" "p.(Arg524Met)" "" "0000845153" "00008204" "90" "1574" "0" "1574" "0" "c.1574C>T" "r.(?)" "p.(Pro525Leu)" "" "0000854487" "00008204" "50" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Arg216Cys)" "" "0000854488" "00008204" "50" "1231" "0" "1231" "0" "c.1231C>T" "r.(?)" "p.(Pro411Ser)" "" "0000864765" "00008204" "30" "521" "0" "523" "3" "c.521_523+3del" "r.spl?" "p.?" "" "0000864766" "00008204" "50" "1056" "0" "1056" "0" "c.1056C>G" "r.(?)" "p.(Asp352Glu)" "" "0000864767" "00008204" "50" "1459" "0" "1459" "0" "c.1459C>T" "r.(?)" "p.(Arg487Cys)" "" "0000892943" "00008204" "50" "661" "0" "663" "0" "c.661_663del" "r.(?)" "p.(Ser221del)" "" "0000892944" "00008204" "30" "1067" "-6" "1067" "-6" "c.1067-6C>T" "r.(=)" "p.(=)" "" "0000914611" "00008204" "50" "265" "0" "265" "0" "c.265T>A" "r.(?)" "p.(Ser89Thr)" "" "0000926264" "00008204" "50" "350" "0" "350" "0" "c.350C>T" "r.(?)" "p.(Ser117Phe)" "" "0000926265" "00008204" "30" "524" "-13" "524" "-13" "c.524-13dup" "r.(=)" "p.(=)" "" "0000926266" "00008204" "30" "681" "0" "686" "0" "c.681_686del" "r.(?)" "p.(Gly230_Gly231del)" "" "0000926267" "00008204" "70" "1408" "0" "1408" "0" "c.1408del" "r.(?)" "p.(Asp470Metfs*59)" "" "0000950644" "00008204" "30" "198" "0" "198" "0" "c.198T>C" "r.(?)" "p.(Tyr66=)" "" "0000950645" "00008204" "50" "515" "0" "523" "3" "c.515_523+3del" "r.spl?" "p.?" "" "0000968338" "00008204" "50" "434" "0" "434" "0" "c.434A>G" "r.(?)" "p.(Gln145Arg)" "" "0000968339" "00008204" "30" "1292" "22" "1292" "22" "c.1292+22dup" "r.(=)" "p.(=)" "" "0001002287" "00008204" "30" "633" "0" "633" "0" "c.633G>C" "r.(?)" "p.(Gln211His)" "" "0001002288" "00008204" "50" "671" "0" "672" "0" "c.671_672insTGG" "r.(?)" "p.(Gly231dup)" "" "0001026695" "00008204" "50" "265" "0" "265" "0" "c.265T>A" "r.(?)" "p.(Ser89Thr)" "" "0001026696" "00008204" "30" "684" "0" "686" "0" "c.684_686dup" "r.(?)" "p.(Gly231dup)" "" "0001041076" "00008204" "50" "430" "0" "447" "0" "c.430_447del" "r.(?)" "p.(Gly144_Tyr149del)" "" "0001041077" "00008204" "50" "1033" "0" "1033" "0" "c.1033C>G" "r.(?)" "p.(Pro345Ala)" "" "0001041078" "00008204" "30" "1080" "0" "1080" "0" "c.1080C>T" "r.(?)" "p.(=)" "" "0001041079" "00008204" "90" "1509" "0" "1510" "0" "c.1509_1510del" "r.(?)" "p.(Gly504Trpfs*12)" "" "0001046567" "00008204" "50" "646" "0" "646" "0" "c.646C>T" "r.(?)" "p.(Arg216Cys)" "" "0001046568" "00008204" "50" "685" "0" "685" "0" "c.685G>A" "r.(?)" "p.(Gly229Ser)" "" "0001055561" "00008204" "50" "1291" "0" "1291" "0" "c.1291C>T" "r.(?)" "p.(Pro431Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 218 "{{screeningid}}" "{{variantid}}" "0000035946" "0000063071" "0000035947" "0000063072" "0000035948" "0000063073" "0000050628" "0000079608" "0000057157" "0000087445" "0000074791" "0000119864" "0000074792" "0000119865" "0000150412" "0000243879" "0000150413" "0000243880" "0000150414" "0000243881" "0000150415" "0000243882" "0000150416" "0000243883" "0000150417" "0000243895" "0000150418" "0000243896" "0000150419" "0000243897" "0000150420" "0000243903" "0000150421" "0000243904" "0000150422" "0000243905" "0000150423" "0000243906" "0000150424" "0000243907" "0000150425" "0000243884" "0000150426" "0000243885" "0000150427" "0000243886" "0000150428" "0000243898" "0000150429" "0000243909" "0000150430" "0000243910" "0000150431" "0000243911" "0000150432" "0000243912" "0000150433" "0000243913" "0000150434" "0000243914" "0000150435" "0000243915" "0000150436" "0000243916" "0000150436" "0000243917" 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