### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PARK2)
# 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}}"
"PARK2" "parkinson protein 2, E3 ubiquitin protein ligase (parkin)" "6" "q25.2-q27" "unknown" "NC_000006.11" "UD_132084496493" "" "https://www.LOVD.nl/PRKN" "" "1" "8607" "5071" "602544" "1" "1" "1" "1" "A Parkinson\'s disease Mutation Database\r\nNOTE: gene name changed from PARK2 to PRKN\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/PARK2_codingDNA.html" "1" "" "A Parkinson\'s disease Mutation Database" "-1" "" "-1" "00000" "2008-05-27 00:00:00" "00006" "2020-09-18 14:10:53" "00006" "2025-06-05 16:57:57"
## 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}}"
"00001486" "PARK2" "transcript variant 1" "003" "NM_004562.2" "" "NP_004553.2" "" "" "" "-134" "3939" "1398" "161768590" "163148834" "00000" "2012-09-13 13:35:46" "" ""
## 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}}"
"00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" ""
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00424" "cancer, ovarian" "cancer, ovarian" "" "167000" "" "" "" "00006" "2014-06-18 09:01:54" "" ""
"00639" "cancer, lung" "cancer, lung (adenocarcinoma)" "" "211980" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02287" "PARK2" "Parkinson disease, type 2 (PARK-2)" "AR" "600116" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02673" "LPRS2" "leprosy, type 2 (LPRS-2)" "" "607572" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"05613" "PARK" "Parkinson disease (PARK)" "" "" "" "" "" "00006" "2019-06-19 16:46:42" "00006" "2019-06-19 16:46:58"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{geneid}}" "{{diseaseid}}"
"PARK2" "00424"
"PARK2" "00639"
"PARK2" "02287"
"PARK2" "02673"
## Individuals ## Do not remove or alter this header ##
## Count = 175
"{{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}}"
"00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00144671" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" ""
"00164367" "" "" "" "3" "" "00080" "" "family, three affected male siblings" "M" "yes" "Iran" "" "0" "" "" "" "PatII-1"
"00164434" "" "" "" "1" "" "00080" "" "" "F" "yes" "Iran" "" "0" "" "" "" "930042_II-1"
"00164435" "" "" "" "1" "" "00080" "" "" "F" "yes" "Iran" "" "0" "" "" "" "930049_II-1"
"00294027" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00294028" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00294029" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00313472" "" "" "" "1" "" "02176" "{PMID:Hedrich 2002:11971093}" "" "" "" "" "" "0" "" "" "" ""
"00313473" "" "" "" "1" "" "02176" "{PMID:Rawal 2003:12707451}" "" "" "" "" "" "0" "" "" "" ""
"00313474" "" "" "" "1" "" "02176" "{PMID:Illarioshkin 2003:12889082}" "" "" "" "" "" "0" "" "" "" ""
"00313475" "" "" "" "1" "" "02176" "{PMID:Munoz 2002:12397156}" "" "" "" "" "" "0" "" "" "" ""
"00313476" "" "" "" "1" "" "02176" "{PMID:Maruyama 2000:10939576}" "" "" "" "" "" "0" "" "" "" ""
"00313477" "" "" "" "1" "" "02176" "{PMID:Oliveira 2003:12730996}" "" "" "" "" "" "0" "" "" "" ""
"00313478" "" "" "" "1" "" "02176" "{PMID:Abbas 1999:10072423}" "" "" "" "" "" "0" "" "" "" ""
"00313479" "" "" "" "1" "" "02176" "{PMID:Nisipeanu 2001:11402119}" "" "" "" "" "" "0" "" "" "" ""
"00313480" "" "" "" "1" "" "02176" "{PMID:Munoz 2002:12397156}" "" "" "" "" "" "0" "" "" "" ""
"00313481" "" "" "" "1" "" "02176" "{PMID:Kann 2002:12112109}" "" "" "" "" "" "0" "" "" "" ""
"00313482" "" "" "" "1" "" "02176" "{PMID:Terreni 2001:11222788}" "" "" "" "" "" "0" "" "" "" ""
"00313483" "" "" "" "1" "" "02176" "{PMID:Xu 2002:12362318}" "" "" "" "" "" "0" "" "" "" ""
"00313484" "" "" "" "1" "" "02176" "{PMID:Abbas 1999:10072423}" "" "" "" "" "" "0" "" "" "" ""
"00313485" "" "" "" "1" "" "02176" "{PMID:Abbas 1999:10072423}" "" "" "" "" "" "0" "" "" "" ""
"00313486" "" "" "" "1" "" "02176" "{PMID:Hoenicka 2002:12056932}" "" "" "" "" "" "0" "" "" "" ""
"00313487" "" "" "" "1" "" "02176" "{PMID:Abbas 1999:10072423}" "" "" "" "" "" "0" "" "" "" ""
"00313488" "" "" "" "1" "" "02176" "{PMID:Foroud 2003:12629236}" "" "" "" "" "" "0" "" "" "" ""
"00313489" "" "" "" "1" "" "02176" "{PMID:Hedrich 2001:11487568}" "" "" "" "" "" "0" "" "" "" ""
"00313490" "" "" "" "1" "" "02176" "{PMID:Chen 2003:12781599}" "" "" "" "" "" "0" "" "" "" ""
"00313491" "" "" "" "1" "" "02176" "{PMID:Farrer 2001:11558785}" "" "" "" "" "" "0" "" "" "" ""
"00313492" "" "" "" "1" "" "02176" "{PMID:Chen 2003:12781599}" "" "" "" "" "" "0" "" "" "" ""
"00313493" "" "" "" "1" "" "02176" "{PMID:Abbas 1999:10072423}" "" "" "" "" "" "0" "" "" "" ""
"00313494" "" "" "" "1" "" "02176" "{PMID:Abbas 1999:10072423}" "" "" "" "" "" "0" "" "" "" ""
"00313495" "" "" "" "1" "" "02176" "{PMID:Hattori 1998:9851438}" "" "" "" "" "" "0" "" "" "" ""
"00313496" "" "" "" "1" "" "02176" "{PMID:Hattori 1998:9851438}" "" "" "" "" "" "0" "" "" "" ""
"00313497" "" "" "" "1" "" "02176" "{PMID:Hedrich 2002:11971093}" "" "" "" "" "" "0" "" "" "" ""
"00313498" "" "" "" "1" "" "02176" "{PMID:Foroud 2003:12629236}" "" "" "" "" "" "0" "" "" "" ""
"00313499" "" "" "" "1" "" "02176" "{PMID:West 2002:12116199}" "" "" "" "" "" "0" "" "" "" ""
"00313500" "" "" "" "1" "" "02176" "{PMID:Periquet 2001:11179010}" "" "" "" "" "" "0" "" "" "" ""
"00313501" "" "" "" "1" "" "02176" "{PMID:Lucking 2000:10824074}" "" "" "" "" "" "0" "" "" "" ""
"00313502" "" "" "" "1" "" "02176" "{PMID:Pineda-Trujillo 2001:11163284}" "" "" "" "" "" "0" "" "" "" ""
"00313503" "" "" "" "1" "" "02176" "{PMID:Hattori 1998:9731209}" "" "" "" "" "" "0" "" "" "" ""
"00313504" "" "" "" "1" "" "02176" "{PMID:Hedrich 2002:11971093}" "" "" "" "" "" "0" "" "" "" ""
"00313505" "" "" "" "1" "" "02176" "{PMID:Foroud 2003:12629236}" "" "" "" "" "" "0" "" "" "" ""
"00313506" "" "" "" "1" "" "02176" "{PMID:Periquet 2003:12764050}" "" "" "" "" "" "0" "" "" "" ""
"00313507" "" "" "" "1" "" "02176" "{PMID:Oliveira 2003:12730996}" "" "" "" "" "" "0" "" "" "" ""
"00313508" "" "" "" "1" "" "02176" "{PMID:Oliveira 2003:12730996}" "" "" "" "" "" "0" "" "" "" ""
"00313509" "" "" "" "1" "" "02176" "{PMID:Abbas 1999:10072423}" "" "" "" "" "" "0" "" "" "" ""
"00313510" "" "" "" "1" "" "02176" "{PMID:Munoz 2002:12397156}" "" "" "" "" "" "0" "" "" "" ""
"00313511" "" "" "" "1" "" "02176" "{PMID:Hedrich 2002:11971093}" "" "" "" "" "" "0" "" "" "" ""
"00313512" "" "" "" "1" "" "02176" "{PMID:Lucking 2000:10824074}" "" "" "" "" "" "0" "" "" "" ""
"00313513" "" "" "" "1" "" "02176" "{PMID:Chen 2003:12781599}" "" "" "" "" "" "0" "" "" "" ""
"00313514" "" "" "" "1" "" "02176" "{PMID:Abbas 1999:10072423}" "" "" "" "" "" "0" "" "" "" ""
"00313515" "" "" "" "1" "" "02176" "{PMID:Klein 2000:10894229}" "" "" "" "" "" "0" "" "" "" ""
"00313516" "" "" "" "1" "" "02176" "{PMID:Lucking 2000:10824074}" "" "" "" "" "" "0" "" "" "" ""
"00313517" "" "" "" "1" "" "02176" "{PMID:Oliveira 2003:12730996}" "" "" "" "" "" "0" "" "" "" ""
"00313518" "" "" "" "1" "" "02176" "{PMID:Wang 2003:12973932}" "" "" "" "" "" "0" "" "" "" ""
"00313519" "" "" "" "1" "" "02176" "{PMID:Lucking 2000:10824074}" "" "" "" "" "" "0" "" "" "" ""
"00313520" "" "" "" "1" "" "02176" "{PMID:Munoz 2002:12397156}" "" "" "" "" "" "0" "" "" "" ""
"00313521" "" "" "" "1" "" "02176" "{PMID:West 2002:12116199}" "" "" "" "" "" "0" "" "" "" ""
"00313522" "" "" "" "1" "" "02176" "{PMID:Hattori 1998:9731209}" "" "" "" "" "" "0" "" "" "" ""
"00313523" "" "" "" "1" "" "02176" "{PMID:Klein 2000:10894217}" "" "" "" "" "" "0" "" "" "" ""
"00313524" "" "" "" "1" "" "02176" "{PMID:Hedrich 2001:11487568}" "" "" "" "" "" "0" "" "" "" ""
"00313525" "" "" "" "1" "" "02176" "{PMID:Klein 2000:10894229}" "" "" "" "" "" "0" "" "" "" ""
"00313526" "" "" "" "1" "" "02176" "{PMID:Lucking 2000:10824074}" "" "" "" "" "" "0" "" "" "" ""
"00313527" "" "" "" "1" "" "02176" "{PMID:Chen 2003:12781599}" "" "" "" "" "" "0" "" "" "" ""
"00313528" "" "" "" "1" "" "02176" "{PMID:Lucking 2000:10824074}" "" "" "" "" "" "0" "" "" "" ""
"00313529" "" "" "" "1" "" "02176" "{PMID:Hedrich 2001:11487568}" "" "" "" "" "" "0" "" "" "" ""
"00313530" "" "" "" "1" "" "02176" "{PMID:Hedrich 2004:15390068}" "" "" "" "" "" "0" "" "" "" ""
"00313531" "" "" "" "1" "" "02176" "{PMID:Kann 2002:12112109}" "" "" "" "" "" "0" "" "" "" ""
"00313532" "" "" "" "1" "" "02176" "{PMID:Hedrich 2004:15390068}" "" "" "" "" "" "0" "" "" "" ""
"00313533" "" "" "" "1" "" "02176" "{PMID:Oliveira 2003:12730996}" "" "" "" "" "" "0" "" "" "" ""
"00313534" "" "" "" "1" "" "02176" "{PMID:Hu 2000:10965160}" "" "" "" "" "" "0" "" "" "" ""
"00313535" "" "" "" "1" "" "02176" "{PMID:Abbas 1999:10072423}" "" "" "" "" "" "0" "" "" "" ""
"00313536" "" "" "" "1" "" "02176" "{PMID:Alvarez 2001:11684352}" "" "" "" "" "" "0" "" "" "" ""
"00313537" "" "" "" "1" "" "02176" "{PMID:Abbas 1999:10072423}" "" "" "" "" "" "0" "" "" "" ""
"00313538" "" "" "" "1" "" "02176" "{PMID:Nichols 2002:12114481}" "" "" "" "" "" "0" "" "" "" ""
"00313539" "" "" "" "1" "" "02176" "{PMID:Periquet 2003:12764050}" "" "" "" "" "" "0" "" "" "" ""
"00313540" "" "" "" "1" "" "02176" "{PMID:West 2002:12116199}" "" "" "" "" "" "0" "" "" "" ""
"00313541" "" "" "" "1" "" "02176" "{PMID:Abbas 1999:10072423}" "" "" "" "" "" "0" "" "" "" ""
"00313542" "" "" "" "1" "" "02176" "{PMID:Rawal 2003:12707451}" "" "" "" "" "" "0" "" "" "" ""
"00313543" "" "" "" "1" "" "02176" "{PMID:Lucking 2000:10824074}" "" "" "" "" "" "0" "" "" "" ""
"00313544" "" "" "" "1" "" "02176" "{PMID:Maruyama 2000:10939576}" "" "" "" "" "" "0" "" "" "" ""
"00313545" "" "" "" "1" "" "02176" "{PMID:Hedrich 2002:11971093}" "" "" "" "" "" "0" "" "" "" ""
"00313546" "" "" "" "1" "" "02176" "{PMID:Nichols 2002:12114481}" "" "" "" "" "" "0" "" "" "" ""
"00313547" "" "" "" "1" "" "02176" "{PMID:West 2002:12116199}" "" "" "" "" "" "0" "" "" "" ""
"00313548" "" "" "" "1" "" "02176" "{PMID:Rawal 2003:12707451}" "" "" "" "" "" "0" "" "" "" ""
"00313549" "" "" "" "1" "" "02176" "{PMID:Abbas 1999:10072423}" "" "" "" "" "" "0" "" "" "" ""
"00313550" "" "" "" "1" "" "02176" "{PMID:Kann 2002:12112109}" "" "" "" "" "" "0" "" "" "" ""
"00313551" "" "" "" "1" "" "02176" "{PMID:Lucking 2000:10824074}" "" "" "" "" "" "0" "" "" "" ""
"00313552" "" "" "" "1" "" "02176" "{PMID:Lucking 2000:10824074}" "" "" "" "" "" "0" "" "" "" ""
"00313553" "" "" "" "1" "" "02176" "{PMID:Hedrich 2001:11487568}" "" "" "" "" "" "0" "" "" "" ""
"00313554" "" "" "" "1" "" "02176" "{PMID:West 2002:12116199}" "" "" "" "" "" "0" "" "" "" ""
"00313555" "" "" "" "1" "" "02176" "{PMID:Hedrich 2002:11971093}" "" "" "" "" "" "0" "" "" "" ""
"00313556" "" "" "" "1" "" "02176" "{PMID:Nichols 2002:12114481}" "" "" "" "" "" "0" "" "" "" ""
"00313557" "" "" "" "1" "" "02176" "{PMID:Lucking 2000:10824074}" "" "" "" "" "" "0" "" "" "" ""
"00313558" "" "" "" "1" "" "02176" "{PMID:Periquet 2003:12764050}" "" "" "" "" "" "0" "" "" "" ""
"00313559" "" "" "" "1" "" "02176" "{PMID:Lucking 2000:10824074}" "" "" "" "" "" "0" "" "" "" ""
"00313560" "" "" "" "1" "" "02176" "{PMID:Foroud 2003:12629236}" "" "" "" "" "" "0" "" "" "" ""
"00313561" "" "" "" "1" "" "02176" "{PMID:Nichols 2002:12114481}" "" "" "" "" "" "0" "" "" "" ""
"00313562" "" "" "" "1" "" "02176" "{PMID:Kann 2002:12112109}" "" "" "" "" "" "0" "" "" "" ""
"00313563" "" "" "" "1" "" "02176" "{PMID:Foroud 2003:12629236}" "" "" "" "" "" "0" "" "" "" ""
"00313564" "" "" "" "1" "" "02176" "{PMID:Lucking 2000:10824074}" "" "" "" "" "" "0" "" "" "" ""
"00313565" "" "" "" "1" "" "02176" "{PMID:Periquet 2003:12764050}" "" "" "" "" "" "0" "" "" "" ""
"00313566" "" "" "" "1" "" "02176" "{PMID:Foroud 2003:12629236}" "" "" "" "" "" "0" "" "" "" ""
"00313567" "" "" "" "1" "" "02176" "{PMID:Periquet 2003:12764050}" "" "" "" "" "" "0" "" "" "" ""
"00313568" "" "" "" "1" "" "02176" "{PMID:Periquet 2003:12764050}" "" "" "" "" "" "0" "" "" "" ""
"00313569" "" "" "" "1" "" "02176" "{PMID:Nichols 2002:12114481}" "" "" "" "" "" "0" "" "" "" ""
"00313570" "" "" "" "1" "" "02176" "{PMID:Hedrich 2002:11971093}" "" "" "" "" "" "0" "" "" "" ""
"00313571" "" "" "" "1" "" "02176" "{PMID:West 2002:12116199}" "" "" "" "" "" "0" "" "" "" ""
"00313572" "" "" "" "1" "" "02176" "{PMID:Lucking 2000:10824074}" "" "" "" "" "" "0" "" "" "" ""
"00313573" "" "" "" "1" "" "02176" "{PMID:Kitada 1998:9560156}" "" "" "" "" "" "0" "" "" "" ""
"00313574" "" "" "" "1" "" "02176" "{PMID:Lucking 2000:10824074}" "" "" "" "" "" "0" "" "" "" ""
"00313575" "" "" "" "1" "" "02176" "{PMID:Kitada 1998:9560156}" "" "" "" "" "" "0" "" "" "" ""
"00313576" "" "" "" "1" "" "02176" "{PMID:Lucking 2000:10824074}" "" "" "" "" "" "0" "" "" "" ""
"00313577" "" "" "" "1" "" "02176" "{PMID:Kitada 1998:9560156}" "" "" "" "" "" "0" "" "" "" ""
"00313578" "" "" "" "1" "" "02176" "{PMID:Lucking 2000:10824074}" "" "" "" "" "" "0" "" "" "" ""
"00313579" "" "" "" "1" "" "02176" "{PMID:Nichols 2002:12114481}" "" "" "" "" "" "0" "" "" "" ""
"00313580" "" "" "" "1" "" "02176" "{PMID:Hedrich 2004:15390068}" "" "" "" "" "" "0" "" "" "" ""
"00313581" "" "" "" "1" "" "02176" "{PMID:Lucking 2000:10824074}" "" "" "" "" "" "0" "" "" "" ""
"00313582" "" "" "" "1" "" "02176" "{PMID:Foroud 2003:12629236}" "" "" "" "" "" "0" "" "" "" ""
"00313583" "" "" "" "1" "" "02176" "{PMID:Periquet 2003:12764050}" "" "" "" "" "" "0" "" "" "" ""
"00313584" "" "" "" "1" "" "02176" "{PMID:Lucking 1998:9802278}" "" "" "" "" "" "0" "" "" "" ""
"00313585" "" "" "" "1" "" "02176" "{PMID:Foroud 2003:12629236}" "" "" "" "" "" "0" "" "" "" ""
"00313586" "" "" "" "1" "" "02176" "{PMID:Nichols 2002:12114481}" "" "" "" "" "" "0" "" "" "" ""
"00313587" "" "" "" "1" "" "02176" "{PMID:Rawal 2003:12707451}" "" "" "" "" "" "0" "" "" "" ""
"00313588" "" "" "" "1" "" "02176" "{PMID:West 2002:12116199}" "" "" "" "" "" "0" "" "" "" ""
"00313589" "" "" "" "1" "" "02176" "{PMID:Lucking 2000:10824074}" "" "" "" "" "" "0" "" "" "" ""
"00313590" "" "" "" "1" "" "02176" "{PMID:Kitada 1998:9560156}" "" "" "" "" "" "0" "" "" "" ""
"00313591" "" "" "" "1" "" "02176" "{PMID:Lucking 2000:10824074}" "" "" "" "" "" "0" "" "" "" ""
"00313592" "" "" "" "1" "" "02176" "{PMID:Rawal 2003:12707451}" "" "" "" "" "" "0" "" "" "" ""
"00313593" "" "" "" "1" "" "02176" "{PMID:Periquet 2003:12764050}" "" "" "" "" "" "0" "" "" "" ""
"00313594" "" "" "" "1" "" "02176" "{PMID:Rawal 2003:12707451}" "" "" "" "" "" "0" "" "" "" ""
"00313595" "" "" "" "1" "" "02176" "{PMID:West 2002:12116199}" "" "" "" "" "" "0" "" "" "" ""
"00313596" "" "" "" "1" "" "02176" "{PMID:Lucking 2000:10824074}" "" "" "" "" "" "0" "" "" "" ""
"00313597" "" "" "" "1" "" "02176" "{PMID:Maruyama 2000:10939576}" "" "" "" "" "" "0" "" "" "" ""
"00313598" "" "" "" "1" "" "02176" "{PMID:Hattori 1998:9851438}" "" "" "" "" "" "0" "" "" "" ""
"00313599" "" "" "" "1" "" "02176" "{PMID:Lucking 2000:10824074}" "" "" "" "" "" "0" "" "" "" ""
"00313600" "" "" "" "1" "" "02176" "{PMID:Lucking 2000:10824074}" "" "" "" "" "" "0" "" "" "" ""
"00313601" "" "" "" "1" "" "02176" "{PMID:Lucking 2000:10824074}" "" "" "" "" "" "0" "" "" "" ""
"00313602" "" "" "" "1" "" "02176" "{PMID:Kann 2002:12112109}" "" "" "" "" "" "0" "" "" "" ""
"00313603" "" "" "" "1" "" "02176" "{PMID:Lucking 2000:10824074}" "" "" "" "" "" "0" "" "" "" ""
"00313604" "" "" "" "1" "" "02176" "{PMID:Lucking 2000:10824074}" "" "" "" "" "" "0" "" "" "" ""
"00313605" "" "" "" "1" "" "02176" "{PMID:Maruyama 2000:10939576}" "" "" "" "" "" "0" "" "" "" ""
"00313606" "" "" "" "1" "" "02176" "{PMID:Leroy 1998:9856485}" "" "" "" "" "" "0" "" "" "" ""
"00313607" "" "" "" "1" "" "02176" "{PMID:Foroud 2003:12629236}" "" "" "" "" "" "0" "" "" "" ""
"00313608" "" "" "" "1" "" "02176" "{PMID:Lucking 2000:10824074}" "" "" "" "" "" "0" "" "" "" ""
"00313609" "" "" "" "1" "" "02176" "{PMID:Kann 2002:12112109}" "" "" "" "" "" "0" "" "" "" ""
"00313610" "" "" "" "1" "" "02176" "{PMID:Sun 2006:16769863}" "" "" "" "" "" "0" "" "" "" ""
"00313611" "" "" "" "1" "" "02176" "{PMID:Annesi 2007:18350652}" "" "" "" "" "" "0" "" "" "" ""
"00313612" "" "" "" "1" "" "02176" "{PMID:Tarantino 2007:18350649}" "" "" "" "" "" "0" "" "" "" ""
"00313613" "" "" "" "1" "" "02176" "{PMID:Rocca 2007:18350651}" "" "" "" "" "" "0" "" "" "" ""
"00313614" "" "" "" "1" "" "02176" "{PMID:de Cavalho Aguiar 2008:18464276}" "" "" "" "" "" "0" "" "" "" ""
"00313615" "" "" "" "2" "" "02176" "{PMID:Mellick 2008:18486522}" "" "" "" "" "" "0" "" "" "" ""
"00313616" "" "" "" "1" "" "02176" "{PMID:Ciro Candiano 2007:18350653}" "" "" "" "" "" "0" "" "" "" ""
"00313617" "" "" "" "4" "" "02176" "{PMID:de Cavalho Aguiar 2008:18464276}" "4/72 EOPD, 0/81 ctrl" "" "" "" "" "0" "" "" "" ""
"00313618" "" "" "" "1" "" "02176" "{PMID:Clark 2007:17415800}" "" "" "" "" "" "0" "" "" "" ""
"00313619" "" "" "" "1" "" "02176" "{PMID:Clark 2007:17415800}" "" "" "" "" "" "0" "" "" "" ""
"00313620" "" "" "" "1" "" "02176" "{PMID:Clark 2007:17415800}" "" "" "" "" "" "0" "" "" "" ""
"00313621" "" "" "" "1" "" "02176" "{PMID:Lesage 2008:17766365}" "" "" "" "" "" "0" "" "" "" ""
"00313622" "" "" "" "1" "" "02176" "{PMID:Hertz 2006:16643317}" "" "" "" "" "" "0" "" "" "" ""
"00313623" "" "" "" "1" "" "02176" "{PMID:Lesage 2008:17766365}" "" "" "" "" "" "0" "" "" "" ""
"00313624" "" "" "" "1" "" "02176" "{PMID:Sun 2006:16769863}" "" "" "" "" "" "0" "" "" "" ""
"00313625" "" "" "" "1" "" "02176" "{PMID:Lesage 2008:17766365}" "" "" "" "" "" "0" "" "" "" ""
"00313626" "" "" "" "1" "" "02176" "{PMID:Kay 2007:17187375}" "" "" "" "" "" "0" "" "" "" ""
"00313627" "" "" "" "1" "" "02176" "{PMID:Sun 2006:16769863}" "" "" "" "" "" "0" "" "" "" ""
"00313628" "" "" "" "1" "" "02176" "{PMID16908747:Chung 2006" "no family history" "" "" "Korea" "" "0" "" "" "" ""
"00313629" "" "" "" "1" "" "02176" "{PMID:Chung 2006:16908747}" "no family history" "" "" "Korea" "" "0" "" "" "" ""
"00313630" "" "" "" "1" "" "02176" "{PMID:Chung 2006:16908747}" "no family history" "" "" "Korea" "" "0" "" "" "" ""
"00313631" "" "" "" "1" "" "02176" "{PMID:Chung 2008:18228570}" "no family history, marked diurnal fluctation and rest benefit" "M" "" "" "" "0" "" "" "" ""
"00313632" "" "" "" "1" "" "03800" "" "no family history" "F" "" "" "" "0" "" "LDopa responsive" "Mexican mestizo" ""
"00414074" "" "" "" "1" "" "03208" "Pennings et al. 2022, in progress" "" "F" "" "Netherlands" "" "0" "" "" "" "AR22"
"00414075" "" "" "" "1" "" "03208" "Pennings et al. 2022, in progress" "" "F" "" "Netherlands" "" "0" "" "" "" "AR23"
"00414077" "" "" "" "1" "" "03208" "Pennings et al. 2022, in progress" "" "F" "" "Netherlands" "" "0" "" "" "" "AR25"
"00414078" "" "" "" "1" "" "03208" "Pennings et al. 2022, in progress" "" "M" "" "Netherlands" "" "0" "" "" "" "AR26"
"00455763" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "F" "" "" "" "0" "" "" "" "Pat3"
"00465800" "" "" "" "1" "" "00006" "{PMID:Jones 2015:26086840}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Mexico" "" "0" "" "" "" "patient"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 175
"{{individualid}}" "{{diseaseid}}"
"00000209" "01157"
"00144671" "00198"
"00164367" "02287"
"00164434" "02287"
"00164435" "02287"
"00294027" "00198"
"00294028" "00198"
"00294029" "00198"
"00313472" "05613"
"00313473" "05613"
"00313474" "05613"
"00313475" "05613"
"00313476" "05613"
"00313477" "05613"
"00313478" "05613"
"00313479" "05613"
"00313480" "05613"
"00313481" "05613"
"00313482" "05613"
"00313483" "05613"
"00313484" "05613"
"00313485" "05613"
"00313486" "05613"
"00313487" "05613"
"00313488" "05613"
"00313489" "05613"
"00313490" "05613"
"00313491" "05613"
"00313492" "05613"
"00313493" "05613"
"00313494" "05613"
"00313495" "05613"
"00313496" "05613"
"00313497" "05613"
"00313498" "05613"
"00313499" "05613"
"00313500" "05613"
"00313501" "05613"
"00313502" "05613"
"00313503" "05613"
"00313504" "05613"
"00313505" "05613"
"00313506" "05613"
"00313507" "05613"
"00313508" "05613"
"00313509" "05613"
"00313510" "05613"
"00313511" "05613"
"00313512" "05613"
"00313513" "05613"
"00313514" "05613"
"00313515" "05613"
"00313516" "05613"
"00313517" "05613"
"00313518" "05613"
"00313519" "05613"
"00313520" "05613"
"00313521" "05613"
"00313522" "05613"
"00313523" "05613"
"00313524" "05613"
"00313525" "05613"
"00313526" "05613"
"00313527" "05613"
"00313528" "05613"
"00313529" "05613"
"00313530" "05613"
"00313531" "05613"
"00313532" "05613"
"00313533" "05613"
"00313534" "05613"
"00313535" "05613"
"00313536" "05613"
"00313537" "05613"
"00313538" "05613"
"00313539" "05613"
"00313540" "05613"
"00313541" "05613"
"00313542" "05613"
"00313543" "05613"
"00313544" "05613"
"00313545" "05613"
"00313546" "05613"
"00313547" "05613"
"00313548" "05613"
"00313549" "05613"
"00313550" "05613"
"00313551" "05613"
"00313552" "05613"
"00313553" "05613"
"00313554" "05613"
"00313555" "05613"
"00313556" "05613"
"00313557" "05613"
"00313558" "05613"
"00313559" "05613"
"00313560" "05613"
"00313561" "05613"
"00313562" "05613"
"00313563" "05613"
"00313564" "05613"
"00313565" "05613"
"00313566" "05613"
"00313567" "05613"
"00313568" "05613"
"00313569" "05613"
"00313570" "05613"
"00313571" "05613"
"00313572" "05613"
"00313573" "05613"
"00313574" "05613"
"00313575" "05613"
"00313576" "05613"
"00313577" "05613"
"00313578" "05613"
"00313579" "05613"
"00313580" "05613"
"00313581" "05613"
"00313582" "05613"
"00313583" "05613"
"00313584" "05613"
"00313585" "05613"
"00313586" "05613"
"00313587" "05613"
"00313588" "05613"
"00313589" "05613"
"00313590" "05613"
"00313591" "05613"
"00313592" "05613"
"00313593" "05613"
"00313594" "05613"
"00313595" "05613"
"00313596" "05613"
"00313597" "05613"
"00313598" "05613"
"00313599" "05613"
"00313600" "05613"
"00313601" "05613"
"00313602" "05613"
"00313603" "05613"
"00313604" "05613"
"00313605" "05613"
"00313606" "05613"
"00313607" "05613"
"00313608" "05613"
"00313609" "05613"
"00313610" "05613"
"00313611" "05613"
"00313612" "05613"
"00313613" "05613"
"00313614" "05613"
"00313615" "05613"
"00313616" "05613"
"00313617" "05613"
"00313618" "05613"
"00313619" "05613"
"00313620" "05613"
"00313621" "05613"
"00313622" "05613"
"00313623" "05613"
"00313624" "05613"
"00313625" "05613"
"00313626" "05613"
"00313627" "05613"
"00313628" "05613"
"00313629" "05613"
"00313630" "05613"
"00313631" "05613"
"00313632" "05613"
"00414074" "00000"
"00414075" "00000"
"00414077" "00000"
"00414078" "00000"
"00455763" "00198"
"00465800" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00424, 00639, 01157, 02287, 02673, 05613
## Count = 172
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Cancer/Sub_type}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" ""
"0000117407" "00198" "00144671" "01807" "Unknown" "" "Action tremor (HP:0002345); Abnormal muscle tone (HP:0003808); Dystonia (HP:0001332)" "" "" "" "" "" "" "" "" "" "" "" ""
"0000129470" "02287" "00164367" "00080" "Familial, autosomal recessive" "" "" "12y" "" "" "" "" "" "" "" "" "PARK-2" "Parkinson disease" ""
"0000129493" "02287" "00164434" "00080" "Familial, autosomal recessive" "" "" "32y" "" "" "" "" "" "" "" "" "" "" ""
"0000129509" "02287" "00164435" "00080" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000237793" "05613" "00313472" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237794" "05613" "00313473" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237795" "05613" "00313474" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237796" "05613" "00313475" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237797" "05613" "00313476" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237798" "05613" "00313477" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237799" "05613" "00313478" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237800" "05613" "00313479" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237801" "05613" "00313480" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237802" "05613" "00313481" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237803" "05613" "00313482" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237804" "05613" "00313483" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237805" "05613" "00313484" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237806" "05613" "00313485" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237807" "05613" "00313486" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237808" "05613" "00313487" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237809" "05613" "00313488" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237810" "05613" "00313489" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237811" "05613" "00313490" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237812" "05613" "00313491" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237813" "05613" "00313492" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237814" "05613" "00313493" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237815" "05613" "00313494" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237816" "05613" "00313495" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237817" "05613" "00313496" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237818" "05613" "00313497" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237819" "05613" "00313498" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237820" "05613" "00313499" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237821" "05613" "00313500" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237822" "05613" "00313501" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237823" "05613" "00313502" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237824" "05613" "00313503" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237825" "05613" "00313504" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237826" "05613" "00313505" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237827" "05613" "00313506" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237828" "05613" "00313507" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237829" "05613" "00313508" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237830" "05613" "00313509" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237831" "05613" "00313510" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237832" "05613" "00313511" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237833" "05613" "00313512" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237834" "05613" "00313513" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237835" "05613" "00313514" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237836" "05613" "00313515" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237837" "05613" "00313516" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237838" "05613" "00313517" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237839" "05613" "00313518" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237840" "05613" "00313519" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237841" "05613" "00313520" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237842" "05613" "00313521" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237843" "05613" "00313522" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237844" "05613" "00313523" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237845" "05613" "00313524" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237846" "05613" "00313525" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237847" "05613" "00313526" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237848" "05613" "00313527" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237849" "05613" "00313528" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237850" "05613" "00313529" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237851" "05613" "00313530" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237852" "05613" "00313531" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237853" "05613" "00313532" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237854" "05613" "00313533" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237855" "05613" "00313534" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237856" "05613" "00313535" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237857" "05613" "00313536" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237858" "05613" "00313537" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237859" "05613" "00313538" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237860" "05613" "00313539" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237861" "05613" "00313540" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237862" "05613" "00313541" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237863" "05613" "00313542" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237864" "05613" "00313543" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237865" "05613" "00313544" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237866" "05613" "00313545" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237867" "05613" "00313546" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237868" "05613" "00313547" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237869" "05613" "00313548" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237870" "05613" "00313549" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237871" "05613" "00313550" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237872" "05613" "00313551" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237873" "05613" "00313552" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237874" "05613" "00313553" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237875" "05613" "00313554" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237876" "05613" "00313555" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237877" "05613" "00313556" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237878" "05613" "00313557" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237879" "05613" "00313558" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237880" "05613" "00313559" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237881" "05613" "00313560" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237882" "05613" "00313561" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237883" "05613" "00313562" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237884" "05613" "00313563" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237885" "05613" "00313564" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237886" "05613" "00313565" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237887" "05613" "00313566" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237888" "05613" "00313567" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237889" "05613" "00313568" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237890" "05613" "00313569" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237891" "05613" "00313570" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237892" "05613" "00313571" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237893" "05613" "00313572" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237894" "05613" "00313573" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237895" "05613" "00313574" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237896" "05613" "00313575" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237897" "05613" "00313576" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237898" "05613" "00313577" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237899" "05613" "00313578" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237900" "05613" "00313579" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237901" "05613" "00313580" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237902" "05613" "00313581" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237903" "05613" "00313582" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237904" "05613" "00313583" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237905" "05613" "00313584" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237906" "05613" "00313585" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237907" "05613" "00313586" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237908" "05613" "00313587" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237909" "05613" "00313588" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237910" "05613" "00313589" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237911" "05613" "00313590" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237912" "05613" "00313591" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237913" "05613" "00313592" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237914" "05613" "00313593" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237915" "05613" "00313594" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237916" "05613" "00313595" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237917" "05613" "00313596" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237918" "05613" "00313597" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237919" "05613" "00313598" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237920" "05613" "00313599" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237921" "05613" "00313600" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237922" "05613" "00313601" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237923" "05613" "00313602" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237924" "05613" "00313603" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237925" "05613" "00313604" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237926" "05613" "00313605" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237927" "05613" "00313606" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237928" "05613" "00313607" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237929" "05613" "00313608" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237930" "05613" "00313609" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237931" "05613" "00313610" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237932" "05613" "00313611" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237933" "05613" "00313612" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237934" "05613" "00313613" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237935" "05613" "00313614" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237936" "05613" "00313615" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237937" "05613" "00313616" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237938" "05613" "00313617" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237939" "05613" "00313618" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237940" "05613" "00313619" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237941" "05613" "00313620" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237942" "05613" "00313621" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237943" "05613" "00313622" "02176" "-" "" "early postural instability, fluctuations, dyskinesia" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237944" "05613" "00313623" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237945" "05613" "00313624" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237946" "05613" "00313625" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237947" "05613" "00313626" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237948" "05613" "00313627" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237949" "05613" "00313628" "02176" "-" "" "" "10y" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237950" "05613" "00313629" "02176" "-" "" "" "38y" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237951" "05613" "00313630" "02176" "-" "" "" "20y" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237952" "05613" "00313631" "02176" "-" "" "" "16y" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237953" "05613" "00313632" "03800" "-" "" "bradykinesia; resting tremor (HP:0002322); rigidity (HP:0002063); postural instability (HP:0002172); asymmetric onset" "28y" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000305975" "00000" "00414074" "03208" "Familial, autosomal recessive" "" "Parkinson, dystonia" "" "" "" "" "" "" "" "" "" "" "" ""
"0000305976" "00000" "00414075" "03208" "Familial, autosomal recessive" "" "Parkinson" "" "" "" "" "" "" "" "" "" "" "" ""
"0000305978" "00000" "00414077" "03208" "Familial, autosomal recessive" "" "Parkinson, cervical dystonia" "" "" "" "" "" "" "" "" "" "" "" ""
"0000305979" "00000" "00414078" "03208" "Familial, autosomal recessive" "" "spasticity, cataract, dystonia, parkinson" "" "" "" "" "" "" "" "" "" "" "" ""
"0000344296" "00198" "00455763" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "PARK8" "neurogenetic diseases" ""
"0000351242" "00198" "00465800" "00006" "Familial, autosomal recessive" "01y" "see paper; ..., blue sclerae; bilateral radio-ulnar synostosis, severe osteopenia, increased gap between first/second toes, bilateral club feet, atrial/ventricular septal defects; bilateral glaucoma, hypertelorism, upturned nose, anteverted nares, small chest, diaphragmatic hernia, multiple fractures, arachnodactyly, overlapping fingers with ulnar deviation, lymphedema, hypotonia, hearing loss, perinatal cerebral infarction with bilateral supra- and infratentorial subdural hematomas" "" "" "" "" "" "" "" "" "" "JDSCD" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 175
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000145528" "00144671" "0" "01807" "01807" "2017-12-21 13:06:11" "" "" "SEQ" "DNA" "" ""
"0000165234" "00164367" "1" "00080" "00080" "2018-05-15 22:58:13" "" "" "SEQ-NG-I" "DNA" "Whole blood" ""
"0000165301" "00164434" "1" "00080" "00080" "2018-05-17 16:47:15" "" "" "SEQ-NG-I" "DNA" "Whole blood" ""
"0000165302" "00164435" "1" "00080" "00080" "2018-05-17 17:06:48" "" "" "SEQ-NG-I" "DNA" "whole Blood" ""
"0000295195" "00294027" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000295196" "00294028" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000295197" "00294029" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000314644" "00313472" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314645" "00313473" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314646" "00313474" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314647" "00313475" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314648" "00313476" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314649" "00313477" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314650" "00313478" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314651" "00313479" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314652" "00313480" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314653" "00313481" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314654" "00313482" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314655" "00313483" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314656" "00313484" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314657" "00313485" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314658" "00313486" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314659" "00313487" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314660" "00313488" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314661" "00313489" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314662" "00313490" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314663" "00313491" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314664" "00313492" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314665" "00313493" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314666" "00313494" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314667" "00313495" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314668" "00313496" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314669" "00313497" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314670" "00313498" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314671" "00313499" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314672" "00313500" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314673" "00313501" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314674" "00313502" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314675" "00313503" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314676" "00313504" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314677" "00313505" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314678" "00313506" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314679" "00313507" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314680" "00313508" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314681" "00313509" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314682" "00313510" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314683" "00313511" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314684" "00313512" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314685" "00313513" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314686" "00313514" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314687" "00313515" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314688" "00313516" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314689" "00313517" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314690" "00313518" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314691" "00313519" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314692" "00313520" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314693" "00313521" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314694" "00313522" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314695" "00313523" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314696" "00313524" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314697" "00313525" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314698" "00313526" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314699" "00313527" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314700" "00313528" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314701" "00313529" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314702" "00313530" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314703" "00313531" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314704" "00313532" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314705" "00313533" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314706" "00313534" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314707" "00313535" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314708" "00313536" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314709" "00313537" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314710" "00313538" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314711" "00313539" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314712" "00313540" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314713" "00313541" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314714" "00313542" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314715" "00313543" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314716" "00313544" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314717" "00313545" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314718" "00313546" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314719" "00313547" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314720" "00313548" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314721" "00313549" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "SEQ" "DNA" "" ""
"0000314722" "00313550" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314723" "00313551" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314724" "00313552" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314725" "00313553" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314726" "00313554" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314727" "00313555" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314728" "00313556" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314729" "00313557" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314730" "00313558" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314731" "00313559" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314732" "00313560" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314733" "00313561" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314734" "00313562" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314735" "00313563" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314736" "00313564" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314737" "00313565" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314738" "00313566" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314739" "00313567" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314740" "00313568" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314741" "00313569" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314742" "00313570" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314743" "00313571" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314744" "00313572" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314745" "00313573" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314746" "00313574" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314747" "00313575" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314748" "00313576" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314749" "00313577" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314750" "00313578" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314751" "00313579" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314752" "00313580" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314753" "00313581" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314754" "00313582" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314755" "00313583" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314756" "00313584" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314757" "00313585" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314758" "00313586" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314759" "00313587" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314760" "00313588" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314761" "00313589" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314762" "00313590" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314763" "00313591" "1" "02176" "02176" "2008-06-12 20:38:45" "" "" "PCRq" "DNA" "" ""
"0000314764" "00313592" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "PCRq" "DNA" "" ""
"0000314765" "00313593" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "PCRq" "DNA" "" ""
"0000314766" "00313594" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "PCRq" "DNA" "" ""
"0000314767" "00313595" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "PCRq" "DNA" "" ""
"0000314768" "00313596" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "PCRq" "DNA" "" ""
"0000314769" "00313597" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "PCRq" "DNA" "" ""
"0000314770" "00313598" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "PCRq" "DNA" "" ""
"0000314771" "00313599" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "PCRq" "DNA" "" ""
"0000314772" "00313600" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "PCRq" "DNA" "" ""
"0000314773" "00313601" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "PCRq" "DNA" "" ""
"0000314774" "00313602" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "PCRq" "DNA" "" ""
"0000314775" "00313603" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "PCRq" "DNA" "" ""
"0000314776" "00313604" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "PCRq" "DNA" "" ""
"0000314777" "00313605" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "PCRq" "DNA" "" ""
"0000314778" "00313606" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "PCRq" "DNA" "" ""
"0000314779" "00313607" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "PCRq" "DNA" "" ""
"0000314780" "00313608" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "PCRq" "DNA" "" ""
"0000314781" "00313609" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "PCRq" "DNA" "" ""
"0000314782" "00313610" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "PCRq" "DNA" "" ""
"0000314783" "00313611" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "SEQ" "DNA" "" ""
"0000314784" "00313612" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "SEQ" "DNA" "" ""
"0000314785" "00313613" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "SEQ" "DNA" "" ""
"0000314786" "00313614" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "SEQ" "DNA" "" ""
"0000314787" "00313615" "1" "02176" "02176" "2008-06-12 20:38:46" "02176" "2008-06-17 03:34:37" "SEQ" "DNA" "" ""
"0000314788" "00313616" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "SEQ" "DNA" "" ""
"0000314789" "00313617" "1" "02176" "02176" "2008-06-12 20:38:46" "02176" "2008-06-26 06:59:14" "PCRq" "DNA" "" ""
"0000314790" "00313618" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "SEQ" "DNA" "" ""
"0000314791" "00313619" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "SEQ" "DNA" "" ""
"0000314792" "00313620" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "SEQ" "DNA" "" ""
"0000314793" "00313621" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "SEQ" "DNA" "" ""
"0000314794" "00313622" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "SEQ" "DNA" "" ""
"0000314795" "00313623" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "SEQ" "DNA" "" ""
"0000314796" "00313624" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "SEQ" "DNA" "" ""
"0000314797" "00313625" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "SEQ" "DNA" "" ""
"0000314798" "00313626" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "SEQ" "DNA" "" ""
"0000314799" "00313627" "1" "02176" "02176" "2008-06-12 20:38:46" "" "" "SEQ" "DNA" "" ""
"0000314800" "00313628" "1" "02176" "02176" "2008-06-26 06:57:13" "" "" "SEQ" "DNA" "" ""
"0000314801" "00313629" "1" "02176" "02176" "2008-06-26 07:02:44" "02176" "2008-06-26 07:03:21" "SEQ" "DNA" "" ""
"0000314802" "00313630" "1" "02176" "02176" "2008-06-26 07:05:48" "" "" "SEQ" "DNA" "" ""
"0000314803" "00313631" "1" "02176" "02176" "2008-06-26 07:13:24" "02176" "2008-06-26 07:15:20" "MLPA" "DNA" "" ""
"0000314804" "00313632" "1" "03800" "03800" "2012-09-25 18:17:19" "" "" "MLPA" "DNA" "" ""
"0000415353" "00414074" "1" "03208" "00006" "2022-07-27 10:49:59" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES"
"0000415354" "00414075" "1" "03208" "00006" "2022-07-27 10:49:59" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES"
"0000415356" "00414077" "1" "03208" "00006" "2022-07-27 10:49:59" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES"
"0000415357" "00414078" "1" "03208" "00006" "2022-07-27 10:49:59" "" "" "SEQ;SEQ-NG" "DNA" "blood" "WES"
"0000457379" "00455763" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000467451" "00465800" "1" "00006" "00006" "2025-06-05 16:53:14" "" "" "SEQ" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 162
"{{screeningid}}" "{{geneid}}"
"0000314644" "PARK2"
"0000314645" "PARK2"
"0000314646" "PARK2"
"0000314647" "PARK2"
"0000314648" "PARK2"
"0000314649" "PARK2"
"0000314650" "PARK2"
"0000314651" "PARK2"
"0000314652" "PARK2"
"0000314653" "PARK2"
"0000314654" "PARK2"
"0000314655" "PARK2"
"0000314656" "PARK2"
"0000314657" "PARK2"
"0000314658" "PARK2"
"0000314659" "PARK2"
"0000314660" "PARK2"
"0000314661" "PARK2"
"0000314662" "PARK2"
"0000314663" "PARK2"
"0000314664" "PARK2"
"0000314665" "PARK2"
"0000314666" "PARK2"
"0000314667" "PARK2"
"0000314668" "PARK2"
"0000314669" "PARK2"
"0000314670" "PARK2"
"0000314671" "PARK2"
"0000314672" "PARK2"
"0000314673" "PARK2"
"0000314674" "PARK2"
"0000314675" "PARK2"
"0000314676" "PARK2"
"0000314677" "PARK2"
"0000314678" "PARK2"
"0000314679" "PARK2"
"0000314680" "PARK2"
"0000314681" "PARK2"
"0000314682" "PARK2"
"0000314683" "PARK2"
"0000314684" "PARK2"
"0000314685" "PARK2"
"0000314686" "PARK2"
"0000314687" "PARK2"
"0000314688" "PARK2"
"0000314689" "PARK2"
"0000314690" "PARK2"
"0000314691" "PARK2"
"0000314692" "PARK2"
"0000314693" "PARK2"
"0000314694" "PARK2"
"0000314695" "PARK2"
"0000314696" "PARK2"
"0000314697" "PARK2"
"0000314698" "PARK2"
"0000314699" "PARK2"
"0000314700" "PARK2"
"0000314701" "PARK2"
"0000314702" "PARK2"
"0000314703" "PARK2"
"0000314704" "PARK2"
"0000314705" "PARK2"
"0000314706" "PARK2"
"0000314707" "PARK2"
"0000314708" "PARK2"
"0000314709" "PARK2"
"0000314710" "PARK2"
"0000314711" "PARK2"
"0000314712" "PARK2"
"0000314713" "PARK2"
"0000314714" "PARK2"
"0000314715" "PARK2"
"0000314716" "PARK2"
"0000314717" "PARK2"
"0000314718" "PARK2"
"0000314719" "PARK2"
"0000314720" "PARK2"
"0000314721" "PARK2"
"0000314722" "PARK2"
"0000314723" "PARK2"
"0000314724" "PARK2"
"0000314725" "PARK2"
"0000314726" "PARK2"
"0000314727" "PARK2"
"0000314728" "PARK2"
"0000314729" "PARK2"
"0000314730" "PARK2"
"0000314731" "PARK2"
"0000314732" "PARK2"
"0000314733" "PARK2"
"0000314734" "PARK2"
"0000314735" "PARK2"
"0000314736" "PARK2"
"0000314737" "PARK2"
"0000314738" "PARK2"
"0000314739" "PARK2"
"0000314740" "PARK2"
"0000314741" "PARK2"
"0000314742" "PARK2"
"0000314743" "PARK2"
"0000314744" "PARK2"
"0000314745" "PARK2"
"0000314746" "PARK2"
"0000314747" "PARK2"
"0000314748" "PARK2"
"0000314749" "PARK2"
"0000314750" "PARK2"
"0000314751" "PARK2"
"0000314752" "PARK2"
"0000314753" "PARK2"
"0000314754" "PARK2"
"0000314755" "PARK2"
"0000314756" "PARK2"
"0000314757" "PARK2"
"0000314758" "PARK2"
"0000314759" "PARK2"
"0000314760" "PARK2"
"0000314761" "PARK2"
"0000314762" "PARK2"
"0000314763" "PARK2"
"0000314764" "PARK2"
"0000314765" "PARK2"
"0000314766" "PARK2"
"0000314767" "PARK2"
"0000314768" "PARK2"
"0000314769" "PARK2"
"0000314770" "PARK2"
"0000314771" "PARK2"
"0000314772" "PARK2"
"0000314773" "PARK2"
"0000314774" "PARK2"
"0000314775" "PARK2"
"0000314776" "PARK2"
"0000314777" "PARK2"
"0000314778" "PARK2"
"0000314779" "PARK2"
"0000314780" "PARK2"
"0000314781" "PARK2"
"0000314782" "PARK2"
"0000314783" "PARK2"
"0000314784" "PARK2"
"0000314785" "PARK2"
"0000314786" "PARK2"
"0000314787" "PARK2"
"0000314788" "PARK2"
"0000314789" "PARK2"
"0000314790" "PARK2"
"0000314791" "PARK2"
"0000314792" "PARK2"
"0000314793" "PARK2"
"0000314794" "PARK2"
"0000314795" "PARK2"
"0000314796" "PARK2"
"0000314797" "PARK2"
"0000314798" "PARK2"
"0000314799" "PARK2"
"0000314800" "PARK2"
"0000314801" "PARK2"
"0000314802" "PARK2"
"0000314803" "PARK2"
"0000314804" "PARK2"
"0000467451" "B3GAT3"
## 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 = 266
"{{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}}"
"0000010450" "3" "50" "6" "162230340" "162230341" "ins" "0" "00037" "PARK2_000142" "g.162230340_162230341insG" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.161809308_161809309insG" "" "VUS" ""
"0000012429" "3" "50" "6" "161929638" "161929638" "subst" "0" "00037" "PARK2_000141" "g.161929638T>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.161508606T>G" "" "VUS" ""
"0000237901" "0" "90" "6" "162475122" "162683798" "del" "0" "01807" "PARK2_000096" "g.(162394450_162475122)_(162683798_162864342)del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(161973418_162054090)_(162262766_162443310)del" "" "pathogenic" ""
"0000237902" "0" "90" "6" "162206852" "162206852" "subst" "0.00191139" "01807" "PARK2_000037" "g.162206852G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.161785820G>A" "" "pathogenic" ""
"0000248330" "0" "10" "6" "162622304" "162622304" "subst" "0.933874" "02325" "PARK2_000162" "g.162622304A>G" "" "" "" "PRKN(NM_004562.3):c.413-20T>C, PRKN(NM_013987.3):c.413-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162201272A>G" "" "benign" ""
"0000249374" "0" "30" "6" "161970012" "161970012" "subst" "0.00242586" "02325" "PARK2_000176" "g.161970012A>G" "" "" "" "PRKN(NM_004562.3):c.957T>C (p.G319=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161548980A>G" "" "likely benign" ""
"0000250065" "0" "10" "6" "162622304" "162622304" "subst" "0.933874" "02329" "PARK2_000162" "g.162622304A>G" "" "" "" "PRKN(NM_004562.3):c.413-20T>C, PRKN(NM_013987.3):c.413-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162201272A>G" "" "benign" ""
"0000253799" "0" "10" "6" "162864317" "162864317" "subst" "0.25256" "01943" "PARK2_000166" "g.162864317A>G" "" "" "" "PARK2(NM_004562.2):c.171+25T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162443285A>G" "" "benign" ""
"0000296760" "0" "30" "6" "161807875" "161807875" "subst" "0" "02325" "PARK2_000147" "g.161807875T>G" "" "" "" "PRKN(NM_004562.3):c.1118A>C (p.H373P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161386843T>G" "" "likely benign" ""
"0000296761" "0" "10" "6" "161807855" "161807855" "subst" "0.164748" "02325" "PARK2_000145" "g.161807855C>G" "" "" "" "PARK2(NM_004562.2):c.1138G>C (p.V380L), PRKN(NM_004562.3):c.1138G>C (p.V380L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161386823C>G" "" "benign" ""
"0000296762" "0" "50" "6" "161771219" "161771219" "subst" "0.00158019" "02325" "PARK2_000063" "g.161771219G>A" "" "" "" "PARK2(NM_004562.2):c.1310C>T (p.P437L), PRKN(NM_004562.2):c.1310C>T (p.P437L), PRKN(NM_004562.3):c.1310C>T (p.P437L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161350187G>A" "" "VUS" ""
"0000298792" "0" "10" "6" "161807855" "161807855" "subst" "0.164748" "02329" "PARK2_000145" "g.161807855C>G" "" "" "" "PARK2(NM_004562.2):c.1138G>C (p.V380L), PRKN(NM_004562.3):c.1138G>C (p.V380L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161386823C>G" "" "benign" ""
"0000298793" "0" "10" "6" "161781225" "161781225" "subst" "0.0252741" "02329" "PARK2_000056" "g.161781225C>T" "" "" "" "PARK2(NM_004562.2):c.1180G>A (p.D394N), PRKN(NM_004562.3):c.1180G>A (p.D394N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161360193C>T" "" "benign" ""
"0000298795" "0" "10" "6" "162622197" "162622197" "subst" "0.0699338" "02329" "PARK2_000022" "g.162622197C>T" "" "" "" "PARK2(NM_004562.2):c.500G>A (p.S167N), PRKN(NM_004562.3):c.500G>A (p.S167N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162201165C>T" "" "benign" ""
"0000298796" "0" "50" "6" "162206909" "162206909" "subst" "0.000430817" "02329" "PARK2_000032" "g.162206909G>A" "" "" "" "PARK2(NM_004562.2):c.766C>T (p.R256C), PRKN(NM_004562.3):c.766C>T (p.R256C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161785877G>A" "" "VUS" ""
"0000305002" "0" "30" "6" "161969969" "161969969" "subst" "0.00245222" "01943" "PARK2_000047" "g.161969969G>A" "" "" "" "PARK2(NM_004562.2):c.1000C>T (p.R334C), PRKN(NM_004562.3):c.1000C>T (p.R334C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161548937G>A" "" "likely benign" ""
"0000305003" "0" "90" "6" "162864411" "162864412" "del" "0.000239693" "01943" "PARK2_000007" "g.162864411_162864412del" "" "" "" "PARK2(NM_004562.2):c.101_102delAG (p.Q34Rfs*5), PRKN(NM_004562.2):c.101_102delAG (p.Q34Rfs*5), PRKN(NM_004562.3):c.101_102delAG (p.Q34Rfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162443379_162443380del" "" "pathogenic" ""
"0000305004" "0" "10" "6" "162864412" "162864412" "subst" "0.00290894" "01943" "PARK2_000169" "g.162864412T>C" "" "" "" "PARK2(NM_004562.2):c.101A>G (p.Q34R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162443380T>C" "" "benign" ""
"0000305005" "0" "30" "6" "161969908" "161969908" "subst" "4.06679E-6" "01943" "PARK2_000149" "g.161969908C>T" "" "" "" "PARK2(NM_004562.2):c.1061G>A (p.G354E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161548876C>T" "" "likely benign" ""
"0000305007" "0" "30" "6" "161807856" "161807856" "subst" "1.6243E-5" "01943" "PARK2_000146" "g.161807856G>A" "" "" "" "PARK2(NM_004562.2):c.1137C>T (p.A379=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161386824G>A" "" "likely benign" ""
"0000305008" "0" "10" "6" "161807855" "161807855" "subst" "0.164748" "01943" "PARK2_000145" "g.161807855C>G" "" "" "" "PARK2(NM_004562.2):c.1138G>C (p.V380L), PRKN(NM_004562.3):c.1138G>C (p.V380L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161386823C>G" "" "benign" ""
"0000305009" "0" "10" "6" "161781225" "161781225" "subst" "0.0252741" "01943" "PARK2_000056" "g.161781225C>T" "" "" "" "PARK2(NM_004562.2):c.1180G>A (p.D394N), PRKN(NM_004562.3):c.1180G>A (p.D394N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161360193C>T" "" "benign" ""
"0000305010" "0" "50" "6" "161771219" "161771219" "subst" "0.00158019" "01943" "PARK2_000063" "g.161771219G>A" "" "" "" "PARK2(NM_004562.2):c.1310C>T (p.P437L), PRKN(NM_004562.2):c.1310C>T (p.P437L), PRKN(NM_004562.3):c.1310C>T (p.P437L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161350187G>A" "" "VUS" ""
"0000305011" "0" "90" "6" "162864359" "162864359" "del" "0" "01943" "PARK2_000013" "g.162864359del" "" "" "" "PARK2(NM_004562.2):c.155delA (p.N52Mfs*29)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162443327del" "" "pathogenic" ""
"0000305012" "0" "50" "6" "162864490" "162864490" "subst" "4.06339E-6" "01943" "PARK2_000171" "g.162864490T>G" "" "" "" "PARK2(NM_004562.2):c.23A>C (p.N8T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162443458T>G" "" "VUS" ""
"0000305013" "0" "50" "6" "162683724" "162683724" "subst" "0.00365388" "01943" "PARK2_000017" "g.162683724G>T" "" "" "" "PARK2(NM_004562.2):c.245C>A (p.A82E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162262692G>T" "" "VUS" ""
"0000305015" "0" "50" "6" "162622239" "162622239" "subst" "0.00131335" "01943" "PARK2_000115" "g.162622239G>C" "" "" "" "PARK2(NM_004562.2):c.458C>G (p.P153R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162201207G>C" "" "VUS" ""
"0000305016" "0" "30" "6" "162864465" "162864465" "subst" "0.000772031" "01943" "PARK2_000170" "g.162864465C>T" "" "" "" "PARK2(NM_004562.2):c.48G>A (p.E16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162443433C>T" "" "likely benign" ""
"0000305017" "0" "10" "6" "162622197" "162622197" "subst" "0.0699338" "01943" "PARK2_000022" "g.162622197C>T" "" "" "" "PARK2(NM_004562.2):c.500G>A (p.S167N), PRKN(NM_004562.3):c.500G>A (p.S167N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162201165C>T" "" "benign" ""
"0000305018" "0" "30" "6" "162622175" "162622175" "subst" "0.00107311" "01943" "PARK2_000159" "g.162622175G>A" "" "" "" "PRKN(NM_004562.2):c.522C>T (p.L174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162201143G>A" "" "likely benign" ""
"0000305019" "0" "90" "6" "162394435" "162394435" "subst" "2.03127E-5" "01943" "PARK2_000027" "g.162394435T>A" "" "" "" "PARK2(NM_004562.2):c.633A>T (p.K211N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161973403T>A" "" "pathogenic" ""
"0000305020" "0" "30" "6" "163148690" "163148690" "subst" "0.000141438" "01943" "PARK2_000172" "g.163148690G>A" "" "" "" "PARK2(NM_004562.2):c.7+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162727658G>A" "" "likely benign" ""
"0000305021" "0" "50" "6" "162394367" "162394367" "subst" "0.000113718" "01943" "PARK2_000119" "g.162394367C>T" "" "" "" "PARK2(NM_004562.2):c.701G>A (p.R234Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161973335C>T" "" "VUS" ""
"0000305022" "0" "10" "6" "162394354" "162394354" "subst" "0.000800039" "01943" "PARK2_000156" "g.162394354G>A" "" "" "" "PRKN(NM_004562.2):c.714C>T (p.C238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161973322G>A" "" "benign" ""
"0000305023" "0" "30" "6" "162206948" "162206948" "subst" "2.44433E-5" "01943" "PARK2_000155" "g.162206948G>A" "" "" "" "PARK2(NM_004562.2):c.735-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161785916G>A" "" "likely benign" ""
"0000305024" "0" "50" "6" "162206909" "162206909" "subst" "0.000430817" "01943" "PARK2_000032" "g.162206909G>A" "" "" "" "PARK2(NM_004562.2):c.766C>T (p.R256C), PRKN(NM_004562.3):c.766C>T (p.R256C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161785877G>A" "" "VUS" ""
"0000305025" "0" "10" "6" "162206892" "162206892" "subst" "0.012805" "01943" "PARK2_000034" "g.162206892T>C" "" "" "" "PRKN(NM_004562.2):c.783A>G (p.L261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161785860T>C" "" "benign" ""
"0000305027" "0" "50" "6" "161990390" "161990390" "subst" "0.000125907" "01943" "PARK2_000151" "g.161990390C>G" "" "" "" "PARK2(NM_004562.2):c.930G>C (p.E310D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161569358C>G" "" "VUS" ""
"0000344356" "0" "50" "6" "161969975" "161969975" "subst" "0" "02327" "PARK2_000174" "g.161969975A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161548943A>G" "" "VUS" ""
"0000344359" "0" "50" "6" "161969959" "161969959" "subst" "4.06673E-6" "02327" "PARK2_000173" "g.161969959C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.161548927C>T" "" "VUS" ""
"0000347686" "0" "90" "6" "163148700" "163148700" "subst" "1.60388E-5" "02327" "PARK2_000175" "g.163148700T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.162727668T>C" "" "pathogenic" ""
"0000368892" "1" "70" "6" "162451091" "162579220" "delins" "0" "00080" "PARK2_000177" "g.162451091_162579220delinsGAGTGATGCCT" "" "" "" "NG_008289.2:g.574615_702745del" "deletion from 162,605,414 to 162,641,899, 12bp insertion between deletion breakpoints AGGCATCACTCA" "Germline" "yes" "" "0" "" "" "g.162030059_162158188delinsGAGTGATGCCT" "" "likely pathogenic" ""
"0000368960" "11" "70" "6" "162837522" "162925283" "del" "0" "00080" "PARK2_000178" "g.162837522_162925283del" "One sibling" "" "" "NG_008289.2:g.228553_316314del" "" "Germline" "yes" "" "0" "" "" "g.162416490_162504251del" "" "likely pathogenic" ""
"0000368961" "21" "70" "6" "162655261" "162724846" "del" "0" "00080" "PARK2_000179" "g.162655261_162724846del" "" "" "" "NG_008289.2:g.428989_498574del" "" "Germline" "yes" "" "0" "" "" "g.162234229_162303814del" "" "likely pathogenic" ""
"0000368998" "11" "70" "6" "162340002" "162667520" "del" "0" "00080" "PARK2_000180" "g.162340002_162667520delinsCTGACTTTATCAGAT" "" "" "" "NG_008289.2:g.486315_813833del" "15bp insertion ATCTGATAAAGTCAG between the deletion breakpoints" "Germline" "yes" "" "0" "" "" "g.161918970_162246488delinsCTGACTTTATCAGAT" "" "likely pathogenic" ""
"0000368999" "21" "70" "6" "162605414" "162641899" "del" "0" "00080" "PARK2_000181" "g.162605414_162641899del" "" "" "" "NG_008289.2:g.511936_548421del" "" "Germline" "yes" "" "0" "" "" "g.162184382_162220867del" "" "likely pathogenic" ""
"0000527920" "0" "50" "6" "161781201" "161781201" "subst" "0.00192884" "01943" "PARK2_000123" "g.161781201G>A" "" "" "" "PARK2(NM_004562.2):c.1204C>T (p.R402C), PRKN(NM_004562.3):c.1204C>T (p.R402C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161360169G>A" "" "VUS" ""
"0000527921" "0" "30" "6" "161781201" "161781201" "subst" "0.00192884" "02326" "PARK2_000123" "g.161781201G>A" "" "" "" "PARK2(NM_004562.2):c.1204C>T (p.R402C), PRKN(NM_004562.3):c.1204C>T (p.R402C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161360169G>A" "" "likely benign" ""
"0000527922" "0" "50" "6" "161781201" "161781201" "subst" "0.00192884" "02329" "PARK2_000123" "g.161781201G>A" "" "" "" "PARK2(NM_004562.2):c.1204C>T (p.R402C), PRKN(NM_004562.3):c.1204C>T (p.R402C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161360169G>A" "" "VUS" ""
"0000527923" "0" "90" "6" "161969888" "161969888" "dup" "0" "01943" "PARK2_000183" "g.161969888dup" "" "" "" "PRKN(NM_004562.2):c.1083+1dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161548856dup" "" "pathogenic" ""
"0000527924" "0" "30" "6" "161990401" "161990401" "subst" "0.000556427" "02325" "PARK2_000121" "g.161990401G>A" "" "" "" "PRKN(NM_004562.2):c.919C>T (p.L307=), PRKN(NM_004562.3):c.919C>T (p.L307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161569369G>A" "" "likely benign" ""
"0000527925" "0" "90" "6" "162206852" "162206852" "subst" "0.00191139" "01943" "PARK2_000037" "g.162206852G>A" "" "" "" "PARK2(NM_004562.2):c.823C>T (p.R275W), PRKN(NM_004562.3):c.823C>T (p.R275W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161785820G>A" "" "pathogenic" ""
"0000527926" "0" "90" "6" "162206852" "162206852" "subst" "0.00191139" "02325" "PARK2_000037" "g.162206852G>A" "" "" "" "PARK2(NM_004562.2):c.823C>T (p.R275W), PRKN(NM_004562.3):c.823C>T (p.R275W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161785820G>A" "" "pathogenic" ""
"0000527927" "0" "50" "6" "162206852" "162206852" "subst" "0.00191139" "02329" "PARK2_000037" "g.162206852G>A" "" "" "" "PARK2(NM_004562.2):c.823C>T (p.R275W), PRKN(NM_004562.3):c.823C>T (p.R275W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161785820G>A" "" "VUS" ""
"0000527928" "0" "50" "6" "162206886" "162206886" "subst" "0" "01943" "PARK2_000185" "g.162206886A>C" "" "" "" "PARK2(NM_004562.2):c.789T>G (p.C263W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161785854A>C" "" "VUS" ""
"0000527929" "0" "50" "6" "162394341" "162394341" "subst" "0.000288337" "01943" "PARK2_000186" "g.162394341C>T" "" "" "" "PARK2(NM_004562.2):c.727G>A (p.D243N), PRKN(NM_004562.3):c.727G>A (p.D243N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161973309C>T" "" "VUS" ""
"0000527930" "0" "30" "6" "162394341" "162394341" "subst" "0.000288337" "02325" "PARK2_000186" "g.162394341C>T" "" "" "" "PARK2(NM_004562.2):c.727G>A (p.D243N), PRKN(NM_004562.3):c.727G>A (p.D243N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161973309C>T" "" "likely benign" ""
"0000527931" "0" "90" "6" "162394349" "162394349" "subst" "0.000381751" "01943" "PARK2_000133" "g.162394349G>A" "" "" "" "PARK2(NM_004562.2):c.719C>T (p.T240M), PRKN(NM_004562.3):c.719C>T (p.T240M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161973317G>A" "" "pathogenic" ""
"0000527932" "0" "50" "6" "162394349" "162394349" "subst" "0.000381751" "02325" "PARK2_000133" "g.162394349G>A" "" "" "" "PARK2(NM_004562.2):c.719C>T (p.T240M), PRKN(NM_004562.3):c.719C>T (p.T240M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161973317G>A" "" "VUS" ""
"0000527933" "0" "30" "6" "162683693" "162683693" "subst" "8.94149E-5" "01943" "PARK2_000188" "g.162683693C>T" "" "" "" "PARK2(NM_004562.2):c.276G>A (p.A92=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162262661C>T" "" "likely benign" ""
"0000527934" "0" "10" "6" "162683815" "162683815" "subst" "0" "01943" "PARK2_000189" "g.162683815A>T" "" "" "" "PARK2(NM_004562.2):c.172-18T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162262783A>T" "" "benign" ""
"0000527935" "0" "30" "6" "162683815" "162683835" "dup" "0" "02329" "PARK2_000190" "g.162683815_162683835dup" "" "" "" "PRKN(NM_004562.3):c.172-38_172-18dupTTTTTTTTTTTTTTTTTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162262783_162262803dup" "" "likely benign" ""
"0000527936" "0" "30" "6" "162683834" "162683835" "del" "0" "02329" "PARK2_000191" "g.162683834_162683835del" "" "" "" "PRKN(NM_004562.3):c.172-19_172-18delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162262802_162262803del" "" "likely benign" ""
"0000527937" "0" "30" "6" "162683835" "162683835" "del" "0" "02329" "PARK2_000192" "g.162683835del" "" "" "" "PRKN(NM_004562.3):c.172-18delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162262803del" "" "likely benign" ""
"0000527938" "0" "50" "6" "162864403" "162864403" "subst" "0.000174694" "01943" "PARK2_000009" "g.162864403G>A" "" "" "" "PARK2(NM_004562.2):c.110C>T (p.P37L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162443371G>A" "" "VUS" ""
"0000527939" "0" "90" "6" "162864411" "162864412" "del" "0.000239693" "02325" "PARK2_000007" "g.162864411_162864412del" "" "" "" "PARK2(NM_004562.2):c.101_102delAG (p.Q34Rfs*5), PRKN(NM_004562.2):c.101_102delAG (p.Q34Rfs*5), PRKN(NM_004562.3):c.101_102delAG (p.Q34Rfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162443379_162443380del" "" "pathogenic" ""
"0000610214" "0" "50" "6" "161969969" "161969969" "subst" "0.00245222" "02325" "PARK2_000047" "g.161969969G>A" "" "" "" "PARK2(NM_004562.2):c.1000C>T (p.R334C), PRKN(NM_004562.3):c.1000C>T (p.R334C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161548937G>A" "" "VUS" ""
"0000610215" "0" "30" "6" "161990401" "161990401" "subst" "0.000556427" "02329" "PARK2_000121" "g.161990401G>A" "" "" "" "PRKN(NM_004562.2):c.919C>T (p.L307=), PRKN(NM_004562.3):c.919C>T (p.L307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161569369G>A" "" "likely benign" ""
"0000610216" "0" "90" "6" "162206942" "162206942" "subst" "0" "02325" "PARK2_000197" "g.162206942T>C" "" "" "" "PRKN(NM_004562.3):c.735-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161785910T>C" "" "pathogenic" ""
"0000610217" "0" "50" "6" "162394349" "162394349" "subst" "0.000381751" "02327" "PARK2_000133" "g.162394349G>A" "" "" "" "PARK2(NM_004562.2):c.719C>T (p.T240M), PRKN(NM_004562.3):c.719C>T (p.T240M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161973317G>A" "" "VUS" ""
"0000610218" "0" "30" "6" "162622154" "162622154" "subst" "0" "01943" "PARK2_000198" "g.162622154T>C" "" "" "" "PARK2(NM_004562.2):c.534+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162201122T>C" "" "likely benign" ""
"0000621671" "0" "50" "6" "161771154" "161771154" "subst" "0" "01943" "PARK2_000196" "g.161771154C>T" "" "" "" "PRKN(NM_004562.2):c.1375G>A (p.G459R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.161350122C>T" "" "VUS" ""
"0000621672" "0" "30" "6" "162683711" "162683711" "subst" "1.21944E-5" "01943" "PARK2_000199" "g.162683711G>A" "" "" "" "PRKN(NM_004562.2):c.258C>T (p.D86=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162262679G>A" "" "likely benign" ""
"0000621673" "0" "10" "6" "162683809" "162683809" "subst" "0" "02329" "PARK2_000200" "g.162683809C>A" "" "" "" "PRKN(NM_013987.3):c.172-12G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.162262777C>A" "" "benign" ""
"0000651884" "1" "90" "6" "162206852" "162206852" "subst" "0.00191139" "03575" "PARK2_000037" "g.162206852G>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs34424986}" "Germline" "" "rs34424986" "0" "" "" "g.161785820G>A" "" "pathogenic" ""
"0000651885" "1" "90" "6" "162394433" "162394433" "subst" "1.21873E-5" "03575" "PARK2_000028" "g.162394433C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs137853058}" "Germline" "" "rs137853058" "0" "" "" "g.161973401C>T" "" "pathogenic" ""
"0000651886" "1" "10" "6" "162864377" "162864377" "subst" "0.00147482" "03575" "PARK2_000202" "g.162864377C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs75860381}" "Germline" "" "rs75860381" "0" "" "" "g.162443345C>T" "" "benign" ""
"0000689680" "0" "30" "6" "162206914" "162206914" "subst" "1.62563E-5" "01943" "PARK2_000203" "g.162206914T>C" "" "" "" "PRKN(NM_004562.2):c.761A>G (p.N254S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000689681" "0" "90" "6" "162864346" "162864346" "subst" "1.62561E-5" "01943" "PARK2_000014" "g.162864346A>T" "" "" "" "PRKN(NM_004562.2):c.167T>A (p.V56E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000696551" "0" "50" "6" "163148721" "163148721" "subst" "0" "02176" "PARK2_000001" "g.163148721C>A" "" "{PMID:Hedrich 2002:11971093}" "" "" "" "Germline" "" "" "0" "" "" "g.162727689C>A" "" "VUS" ""
"0000696552" "0" "99" "6" "163148700" "163148700" "subst" "0" "02176" "PARK2_000002" "g.163148700T>A" "" "{PMID:Rawal 2003:12707451}" "" "" "" "Germline" "" "" "0" "" "" "g.162727668T>A" "" "pathogenic" ""
"0000696553" "0" "99" "6" "163148693" "163148693" "subst" "0" "02176" "PARK2_000003" "g.163148693C>T" "" "{PMID:Illarioshkin 2003:12889082}" "" "" "" "Germline" "" "" "0" "" "" "g.162727661C>T" "" "pathogenic" ""
"0000696554" "0" "50" "6" "162864470" "162864470" "subst" "4.06319E-6" "02176" "PARK2_000004" "g.162864470C>T" "" "{PMID:Munoz 2002:12397156}" "" "" "" "Germline" "" "" "0" "" "" "g.162443438C>T" "" "VUS" ""
"0000696555" "0" "99" "6" "162864416" "162864416" "subst" "8.12572E-6" "02176" "PARK2_000005" "g.162864416G>A" "" "{PMID:Maruyama 2000:10939576}" "" "" "" "Germline" "" "" "0" "" "" "g.162443384G>A" "" "pathogenic" ""
"0000696556" "0" "50" "6" "162864415" "162864415" "subst" "8.53173E-5" "02176" "PARK2_000006" "g.162864415C>T" "" "{PMID:Oliveira 2003:12730996}" "" "" "" "Germline" "" "" "0" "" "" "g.162443383C>T" "" "VUS" ""
"0000696557" "0" "99" "6" "162864411" "162864412" "del" "0.000239693" "02176" "PARK2_000007" "g.162864411_162864412del" "" "{PMID:Abbas 1999:10072423}" "" "101_102delAG" "" "Germline" "" "" "0" "" "" "g.162443379_162443380del" "" "pathogenic" ""
"0000696558" "0" "99" "6" "162864412" "162864412" "del" "4.06273E-6" "02176" "PARK2_000008" "g.162864412del" "" "{PMID:Nisipeanu 2001:11402119}" "" "101delA" "" "Germline" "" "" "0" "" "" "g.162443380del" "" "pathogenic" ""
"0000696559" "0" "99" "6" "162864412" "162864412" "del" "4.06273E-6" "02176" "PARK2_000008" "g.162864412del" "" "{PMID:Munoz 2002:12397156}" "" "101delA" "" "Germline" "" "" "0" "" "" "g.162443380del" "" "pathogenic" ""
"0000696560" "0" "50" "6" "162864403" "162864403" "subst" "0.000174694" "02176" "PARK2_000009" "g.162864403G>A" "" "{PMID:Kann 2002:12112109}" "" "" "" "Germline" "" "" "0" "" "" "g.162443371G>A" "" "VUS" ""
"0000696561" "0" "50" "6" "162864388" "162864388" "subst" "3.65652E-5" "02176" "PARK2_000010" "g.162864388C>G" "" "{PMID:Terreni 2001:11222788}" "" "" "" "Germline" "" "" "0" "" "" "g.162443356C>G" "" "VUS" ""
"0000696562" "0" "50" "6" "162864377" "162864377" "subst" "0" "02176" "PARK2_000011" "g.162864377C>G" "" "{PMID:Xu 2002:12362318}" "" "" "" "Germline" "" "" "0" "" "" "g.162443345C>G" "" "VUS" ""
"0000696563" "0" "99" "6" "162864358" "162864359" "del" "0" "02176" "PARK2_000012" "g.162864358_162864359del" "" "{PMID:Abbas 1999:10072423}" "" "154_155delAA" "" "Germline" "" "" "0" "" "" "g.162443326_162443327del" "" "pathogenic" ""
"0000696564" "0" "99" "6" "162864358" "162864358" "del" "0.000280383" "02176" "PARK2_000013" "g.162864358del" "" "{PMID:Abbas 1999:10072423}" "" "154delA" "" "Germline" "" "" "0" "" "" "g.162443327del" "" "pathogenic" ""
"0000696565" "0" "50" "6" "162864346" "162864346" "subst" "1.62561E-5" "02176" "PARK2_000014" "g.162864346A>T" "" "{PMID:Hoenicka 2002:12056932}" "" "" "" "Germline" "" "" "0" "" "" "g.162443314A>T" "" "VUS" ""
"0000696566" "0" "99" "6" "162683748" "162683749" "ins" "0" "02176" "PARK2_000015" "g.162683748_162683749insAC" "" "{PMID:Abbas 1999:10072423}" "" "" "" "Germline" "" "" "0" "" "" "g.162262717_162262718dup" "" "pathogenic" ""
"0000696567" "0" "99" "6" "162683734" "162683734" "subst" "0" "02176" "PARK2_000016" "g.162683734C>A" "" "{PMID:Foroud 2003:12629236}" "" "" "" "Germline" "" "" "0" "" "" "g.162262702C>A" "" "pathogenic" ""
"0000696568" "0" "50" "6" "162683724" "162683724" "subst" "0.00365388" "02176" "PARK2_000017" "g.162683724G>T" "" "{PMID:Hedrich 2001:11487568}" "" "" "" "Germline" "" "" "0" "" "" "g.162262692G>T" "" "VUS" ""
"0000696569" "0" "50" "6" "162683669" "162683669" "subst" "4.06441E-6" "02176" "PARK2_000018" "g.162683669C>G" "" "{PMID:Chen 2003:12781599}" "" "" "" "Germline" "" "" "0" "" "" "g.162262637C>G" "" "VUS" ""
"0000696570" "0" "99" "6" "162683593" "162683632" "del" "0.0001097" "02176" "PARK2_000019" "g.162683593_162683632del" "" "{PMID:Farrer 2001:11558785}" "" "" "" "Germline" "" "" "0" "" "" "g.162262561_162262600del" "" "pathogenic" ""
"0000696571" "0" "50" "6" "162683597" "162683597" "subst" "0" "02176" "PARK2_000020" "g.162683597G>A" "" "{PMID:Chen 2003:12781599}" "" "" "" "Germline" "" "" "0" "" "" "g.162262565G>A" "" "VUS" ""
"0000696572" "0" "50" "6" "162622214" "162622214" "subst" "0" "02176" "PARK2_000021" "g.162622214T>A" "" "{PMID:Abbas 1999:10072423}" "" "" "" "Germline" "" "" "0" "" "" "g.162201182T>A" "" "VUS" ""
"0000696573" "0" "50" "6" "162622197" "162622197" "subst" "0.0699338" "02176" "PARK2_000022" "g.162622197C>T" "" "{PMID:Abbas 1999:10072423}" "" "" "" "Germline" "" "" "0" "" "" "g.162201165C>T" "" "VUS" ""
"0000696574" "0" "50" "6" "162622197" "162622197" "subst" "0.0699338" "02176" "PARK2_000022" "g.162622197C>T" "" "{PMID:Hattori 1998:9851438}" "" "" "" "Germline" "" "" "0" "" "" "g.162201165C>T" "" "VUS" ""
"0000696575" "0" "99" "6" "162475205" "162475205" "del" "0" "02176" "PARK2_000023" "g.162475205del" "" "{PMID:Hattori 1998:9851438}" "" "535delG" "" "Germline" "" "" "0" "" "" "g.162054175del" "" "pathogenic" ""
"0000696576" "0" "50" "6" "162475167" "162475167" "subst" "0.00429472" "02176" "PARK2_000024" "g.162475167T>G" "" "{PMID:Hedrich 2002:11971093}" "" "" "" "Germline" "" "" "0" "" "" "g.162054135T>G" "" "VUS" ""
"0000696577" "0" "50" "6" "162475167" "162475167" "subst" "0" "02176" "PARK2_000108" "g.162475167T>C" "" "{PMID:Foroud 2003:12629236}" "" "" "" "Germline" "" "" "0" "" "" "g.162054135T>C" "" "VUS" ""
"0000696578" "0" "99" "6" "162475121" "162475121" "subst" "0" "02176" "PARK2_000025" "g.162475121A>T" "" "{PMID:West 2002:12116199}" "" "" "" "Germline" "" "" "0" "" "" "g.162054089A>T" "" "pathogenic" ""
"0000696579" "0" "50" "6" "162394436" "162394436" "subst" "0" "02176" "PARK2_000026" "g.162394436T>C" "" "{PMID:Periquet 2001:11179010}" "" "" "" "Germline" "" "" "0" "" "" "g.161973404T>C" "" "VUS" ""
"0000696580" "0" "50" "6" "162394435" "162394435" "subst" "2.03127E-5" "02176" "PARK2_000027" "g.162394435T>A" "" "{PMID:Lucking 2000:10824074}" "" "" "" "Germline" "" "" "0" "" "" "g.161973403T>A" "" "VUS" ""
"0000696581" "0" "50" "6" "162394433" "162394433" "subst" "1.21873E-5" "02176" "PARK2_000028" "g.162394433C>T" "" "{PMID:Pineda-Trujillo 2001:11163284}" "" "" "" "Germline" "" "" "0" "" "" "g.161973401C>T" "" "VUS" ""
"0000696582" "0" "50" "6" "162394349" "162394349" "subst" "0" "02176" "PARK2_000029" "g.162394349G>C" "" "{PMID:Hattori 1998:9731209}" "" "" "" "Germline" "" "" "0" "" "" "g.161973317G>C" "" "VUS" ""
"0000696583" "0" "50" "6" "162394349" "162394349" "subst" "0" "02176" "PARK2_000029" "g.162394349G>C" "" "{PMID:Hedrich 2002:11971093}" "" "" "" "Germline" "" "" "0" "" "" "g.161973317G>C" "" "VUS" ""
"0000696584" "0" "50" "6" "162394349" "162394349" "subst" "0.000381751" "02176" "PARK2_000133" "g.162394349G>A" "" "{PMID:Foroud 2003:12629236}" "" "" "" "Germline" "" "" "0" "" "" "g.161973317G>A" "" "VUS" ""
"0000696585" "0" "50" "6" "162394349" "162394349" "subst" "0.000381751" "02176" "PARK2_000133" "g.162394349G>A" "" "{PMID:Periquet 2003:12764050}" "" "" "" "Germline" "" "" "0" "" "" "g.161973317G>A" "" "VUS" ""
"0000696586" "0" "50" "6" "162206917" "162206917" "subst" "1.62579E-5" "02176" "PARK2_000030" "g.162206917C>T" "" "{PMID:Oliveira 2003:12730996}" "" "" "" "Germline" "" "" "0" "" "" "g.161785885C>T" "" "VUS" ""
"0000696587" "0" "50" "6" "162206916" "162206916" "subst" "8.12929E-6" "02176" "PARK2_000031" "g.162206916G>C" "" "{PMID:Oliveira 2003:12730996}" "" "" "" "Germline" "" "" "0" "" "" "g.161785884G>C" "" "VUS" ""
"0000696588" "0" "50" "6" "162206909" "162206909" "subst" "0.000430817" "02176" "PARK2_000032" "g.162206909G>A" "" "{PMID:Abbas 1999:10072423}" "" "" "" "Germline" "" "" "0" "" "" "g.161785877G>A" "" "VUS" ""
"0000696589" "0" "99" "6" "162206905" "162206905" "del" "0" "02176" "PARK2_000033" "g.162206905del" "" "{PMID:Munoz 2002:12397156}" "" "770delA" "" "Germline" "" "" "0" "" "" "g.161785873del" "" "pathogenic" ""
"0000696590" "0" "50" "6" "162206892" "162206892" "subst" "0.012805" "02176" "PARK2_000034" "g.162206892T>C" "" "{PMID:Hedrich 2002:11971093}" "" "" "" "Germline" "" "" "0" "" "" "g.161785860T>C" "" "VUS" ""
"0000696591" "0" "99" "6" "162206871" "162206871" "subst" "4.06385E-6" "02176" "PARK2_000035" "g.162206871A>T" "" "{PMID:Lucking 2000:10824074}" "" "" "" "Germline" "" "" "0" "" "" "g.161785839A>T" "" "pathogenic" ""
"0000696592" "0" "50" "6" "162206862" "162206862" "subst" "0" "02176" "PARK2_000036" "g.162206862T>A" "" "{PMID:Chen 2003:12781599}" "" "" "" "Germline" "" "" "0" "" "" "g.161785830T>A" "" "VUS" ""
"0000696593" "0" "50" "6" "162206852" "162206852" "subst" "0.00191139" "02176" "PARK2_000037" "g.162206852G>A" "" "{PMID:Abbas 1999:10072423}" "" "" "" "Germline" "" "" "0" "" "" "g.161785820G>A" "" "VUS" ""
"0000696594" "0" "50" "6" "162206837" "162206837" "subst" "0.000166728" "02176" "PARK2_000038" "g.162206837C>T" "" "{PMID:Klein 2000:10894229}" "" "" "" "Germline" "" "" "0" "" "" "g.161785805C>T" "" "VUS" ""
"0000696595" "0" "50" "6" "162206837" "162206837" "subst" "0.000166728" "02176" "PARK2_000038" "g.162206837C>T" "" "{PMID:Lucking 2000:10824074}" "" "" "" "Germline" "" "" "0" "" "" "g.161785805C>T" "" "VUS" ""
"0000696596" "0" "50" "6" "162206837" "162206837" "subst" "0.000166728" "02176" "PARK2_000038" "g.162206837C>T" "" "{PMID:Oliveira 2003:12730996}" "" "" "" "Germline" "" "" "0" "" "" "g.161785805C>T" "" "VUS" ""
"0000696597" "0" "50" "6" "162206825" "162206825" "subst" "1.22008E-5" "02176" "PARK2_000039" "g.162206825C>G" "" "{PMID:Wang 2003:12973932}" "" "" "" "Germline" "" "" "0" "" "" "g.161785793C>G" "" "VUS" ""
"0000696598" "0" "50" "6" "162206810" "162206810" "subst" "0" "02176" "PARK2_000040" "g.162206810A>C" "" "{PMID:Lucking 2000:10824074}" "" "" "" "Germline" "" "" "0" "" "" "g.161785778A>C" "" "VUS" ""
"0000696599" "0" "99" "6" "162206803" "162206803" "del" "0" "02176" "PARK2_000041" "g.162206803del" "" "{PMID:Munoz 2002:12397156}" "" "871delG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000696600" "0" "99" "6" "161990449" "161990449" "subst" "8.12414E-6" "02176" "PARK2_000042" "g.161990449C>G" "" "{PMID:West 2002:12116199}" "" "" "" "Germline" "" "" "0" "" "" "g.161569417C>G" "" "pathogenic" ""
"0000696601" "0" "99" "6" "161990389" "161990389" "subst" "0" "02176" "PARK2_000043" "g.161990389G>A" "" "{PMID:Hattori 1998:9731209}" "" "" "" "Germline" "" "" "0" "" "" "g.161569357G>A" "" "pathogenic" ""
"0000696602" "0" "99" "6" "161969998" "161969998" "del" "4.06402E-6" "02176" "PARK2_000044" "g.161969998del" "" "{PMID:Klein 2000:10894217}" "" "971delT" "" "Germline" "" "" "0" "" "" "g.161548966del" "" "pathogenic" ""
"0000696603" "0" "99" "6" "161969998" "161969998" "del" "4.06402E-6" "02176" "PARK2_000044" "g.161969998del" "" "{PMID:Hedrich 2001:11487568}" "" "971delT" "" "Germline" "" "" "0" "" "" "g.161548966del" "" "pathogenic" ""
"0000696604" "0" "99" "6" "161969996" "161969996" "del" "0" "02176" "PARK2_000045" "g.161969996del" "" "{PMID:Klein 2000:10894229}" "" "972delC" "" "Germline" "" "" "0" "" "" "g.161548965del" "" "pathogenic" ""
"0000696605" "0" "50" "6" "161969969" "161969969" "subst" "0.00245222" "02176" "PARK2_000047" "g.161969969G>A" "" "{PMID:Lucking 2000:10824074}" "" "" "" "Germline" "" "" "0" "" "" "g.161548937G>A" "" "VUS" ""
"0000696606" "0" "50" "6" "161969986" "161969986" "subst" "0" "02176" "PARK2_000046" "g.161969986C>T" "" "{PMID:Lucking 2000:10824074}" "" "" "" "Germline" "" "" "0" "" "" "g.161548954C>T" "" "VUS" ""
"0000696607" "0" "50" "6" "161969954" "161969954" "subst" "0" "02176" "PARK2_000048" "g.161969954C>A" "" "{PMID:Chen 2003:12781599}" "" "" "" "Germline" "" "" "0" "" "" "g.161548922C>A" "" "VUS" ""
"0000696608" "0" "99" "6" "161969927" "161969928" "del" "0" "02176" "PARK2_000049" "g.161969927_161969928del" "" "{PMID:Lucking 2000:10824074}" "" "1041_1042delGA" "" "Germline" "" "" "0" "" "" "g.161548896_161548897del" "" "pathogenic" ""
"0000696609" "0" "99" "6" "161969922" "161969923" "del" "0" "02176" "PARK2_000050" "g.161969922_161969923del" "" "{PMID:Hedrich 2001:11487568}" "" "1046_1047delAA" "" "Germline" "" "" "0" "" "" "g.161548891_161548892del" "" "pathogenic" ""
"0000696610" "0" "99" "6" "161969922" "161969923" "del" "0" "02176" "PARK2_000050" "g.161969922_161969923del" "" "{PMID:Hedrich 2004:15390068}" "" "1046_1047delAA" "" "Germline" "" "" "0" "" "" "g.161548891_161548892del" "" "pathogenic" ""
"0000696611" "0" "50" "6" "161969918" "161969918" "subst" "0" "02176" "PARK2_000051" "g.161969918T>G" "" "{PMID:Kann 2002:12112109}" "" "" "" "Germline" "" "" "0" "" "" "g.161548886T>G" "" "VUS" ""
"0000696612" "0" "50" "6" "161969918" "161969918" "subst" "0" "02176" "PARK2_000051" "g.161969918T>G" "" "{PMID:Hedrich 2004:15390068}" "" "" "" "Germline" "" "" "0" "" "" "g.161548886T>G" "" "VUS" ""
"0000696613" "0" "99" "6" "161969882" "161969882" "subst" "0" "02176" "PARK2_000052" "g.161969882C>T" "" "{PMID:Oliveira 2003:12730996}" "" "" "" "Germline" "" "" "0" "" "" "g.161548850T=" "" "pathogenic" ""
"0000696614" "0" "50" "6" "161807897" "161807897" "subst" "0.000276158" "02176" "PARK2_000053" "g.161807897G>A" "" "{PMID:Hu 2000:10965160}" "" "" "" "Germline" "" "" "0" "" "" "g.161386865G>A" "" "VUS" ""
"0000696615" "0" "50" "6" "161807855" "161807855" "subst" "3.24892E-5" "02176" "PARK2_000054" "g.161807855C>T" "" "{PMID:Abbas 1999:10072423}" "" "" "" "Germline" "" "" "0" "" "" "g.161386823C>T" "" "VUS" ""
"0000696616" "0" "99" "6" "161781228" "161781229" "del" "0" "02176" "PARK2_000055" "g.161781228_161781229del" "" "{PMID:Alvarez 2001:11684352}" "" "1175_1176delGA" "" "Germline" "" "" "0" "" "" "g.161360198_161360199del" "" "pathogenic" ""
"0000696617" "0" "50" "6" "161781225" "161781225" "subst" "0.0252741" "02176" "PARK2_000056" "g.161781225C>T" "" "{PMID:Abbas 1999:10072423}" "" "" "" "Germline" "" "" "0" "" "" "g.161360193C>T" "" "VUS" ""
"0000696618" "0" "50" "6" "161781213" "161781213" "subst" "8.1215E-6" "02176" "PARK2_000057" "g.161781213C>T" "" "{PMID:Nichols 2002:12114481}" "" "" "" "Germline" "" "" "0" "" "" "g.161360181C>T" "" "VUS" ""
"0000696619" "0" "50" "6" "161781213" "161781213" "subst" "8.1215E-6" "02176" "PARK2_000057" "g.161781213C>T" "" "{PMID:Periquet 2003:12764050}" "" "" "" "Germline" "" "" "0" "" "" "g.161360181C>T" "" "VUS" ""
"0000696620" "0" "99" "6" "161781180" "161781180" "subst" "0" "02176" "PARK2_000058" "g.161781180C>A" "" "{PMID:West 2002:12116199}" "" "" "" "Germline" "" "" "0" "" "" "g.161360148C>A" "" "pathogenic" ""
"0000696621" "0" "99" "6" "161781161" "161781161" "subst" "8.12117E-6" "02176" "PARK2_000059" "g.161781161G>T" "" "{PMID:Abbas 1999:10072423}" "" "" "" "Germline" "" "" "0" "" "" "g.161360129G>T" "" "pathogenic" ""
"0000696622" "0" "50" "6" "161781122" "161781122" "dup" "0" "02176" "PARK2_000060" "g.161781122dup" "" "{PMID:Rawal 2003:12707451}" "" "1284insA" "" "Germline" "" "" "0" "" "" "g.161360090dup" "" "VUS" ""
"0000696623" "0" "50" "6" "161771240" "161771240" "subst" "5.73818E-5" "02176" "PARK2_000061" "g.161771240C>T" "" "{PMID:Lucking 2000:10824074}" "" "" "" "Germline" "" "" "0" "" "" "g.161350208C>T" "" "VUS" ""
"0000696624" "0" "50" "6" "161771237" "161771237" "subst" "0" "02176" "PARK2_000062" "g.161771237C>A" "" "{PMID:Maruyama 2000:10939576}" "" "" "" "Germline" "" "" "0" "" "" "g.161350205C>A" "" "VUS" ""
"0000696625" "0" "50" "6" "161771219" "161771219" "subst" "0.00158019" "02176" "PARK2_000063" "g.161771219G>A" "" "{PMID:Hedrich 2002:11971093}" "" "" "" "Germline" "" "" "0" "" "" "g.161350187G>A" "" "VUS" ""
"0000696626" "0" "50" "6" "161771219" "161771219" "subst" "0.00158019" "02176" "PARK2_000063" "g.161771219G>A" "" "{PMID:Nichols 2002:12114481}" "" "" "" "Germline" "" "" "0" "" "" "g.161350187G>A" "" "VUS" ""
"0000696627" "0" "50" "6" "161771208" "161771208" "subst" "4.48277E-5" "02176" "PARK2_000064" "g.161771208A>G" "" "{PMID:West 2002:12116199}" "" "" "" "Germline" "" "" "0" "" "" "g.161350176A>G" "" "VUS" ""
"0000696628" "0" "99" "6" "161771195" "161771195" "subst" "0" "02176" "PARK2_000065" "g.161771195C>T" "" "{PMID:Rawal 2003:12707451}" "" "" "" "Germline" "" "" "0" "" "" "g.161350163C>T" "" "pathogenic" ""
"0000696629" "0" "99" "6" "161771171" "161771171" "subst" "0" "02176" "PARK2_000066" "g.161771171C>T" "" "{PMID:Abbas 1999:10072423}" "" "" "" "Germline" "" "" "0" "" "" "g.161350139C>T" "" "pathogenic" ""
"0000696630" "0" "99" "6" "0" "0" "" "0" "02176" "PARK2_000067" "g.(162683798_162864341)_(162864506_163148693)[3]" "" "{PMID:Kann 2002:12112109}" "" "c.8-?_171+?trip" "" "Germline" "" "" "0" "" "" "g.(162262766_162443310)_(162443474_162727662)[3]" "" "pathogenic" ""
"0000696631" "0" "99" "6" "0" "0" "" "0" "02176" "PARK2_000067" "g.(162683798_162864341)_(162864506_163148693)[3]" "" "{PMID:Lucking 2000:10824074}" "" "c.8-?_171+?trip" "" "Germline" "" "" "0" "" "" "g.(162262766_162443310)_(162443474_162727662)[3]" "" "pathogenic" ""
"0000696632" "0" "99" "6" "162683557" "162683798" "" "0" "02176" "PARK2_000068" "g.(162622285_162683557)_(162683798_162864342)dup" "" "{PMID:Lucking 2000:10824074}" "" "c.172-?_412+?dup" "" "Germline" "" "" "0" "" "" "g.(162201253_162262525)_(162262766_162443310)dup" "" "pathogenic" ""
"0000696633" "0" "99" "6" "162622163" "162622285" "" "0" "02176" "PARK2_000069" "g.(162475207_162622163)_(162622285_162683557)dup" "" "{PMID:Hedrich 2001:11487568}" "" "c.413-?_534+?dup" "" "Germline" "" "" "0" "" "" "g.(162054175_162201131)_(162201253_162262525)dup" "" "pathogenic" ""
"0000696634" "0" "99" "6" "162622163" "162622285" "" "0" "02176" "PARK2_000069" "g.(162475207_162622163)_(162622285_162683557)dup" "" "{PMID:West 2002:12116199}" "" "c.413-?_534+?dup" "" "Germline" "" "" "0" "" "" "g.(162054175_162201131)_(162201253_162262525)dup" "" "pathogenic" ""
"0000696635" "0" "99" "6" "162475122" "162475207" "" "0" "02176" "PARK2_000070" "g.(162394450_162475122)_(162475207_162622163)dup" "" "{PMID:Hedrich 2002:11971093}" "" "c.535-?_618+?dup" "" "Germline" "" "" "0" "" "" "g.(161973418_162054090)_(162054175_162201131)dup" "" "pathogenic" ""
"0000696636" "0" "99" "6" "162475122" "162475207" "" "0" "02176" "PARK2_000070" "g.(162394450_162475122)_(162475207_162622163)dup" "" "{PMID:Nichols 2002:12114481}" "" "c.535-?_618+?dup" "" "Germline" "" "" "0" "" "" "g.(161973418_162054090)_(162054175_162201131)dup" "" "pathogenic" ""
"0000696637" "0" "99" "6" "162394334" "162394450" "" "0" "02176" "PARK2_000071" "g.(162206941_162394334)_(162394450_162475122)dup" "" "{PMID:Lucking 2000:10824074}" "" "c.619-?_734+?dup" "" "Germline" "" "" "0" "" "" "g.(161785909_161973302)_(161973418_162054090)dup" "" "pathogenic" ""
"0000696638" "0" "99" "6" "162394334" "162394450" "" "0" "02176" "PARK2_000071" "g.(162206941_162394334)_(162394450_162475122)dup" "" "{PMID:Periquet 2003:12764050}" "" "c.619-?_734+?dup" "" "Germline" "" "" "0" "" "" "g.(161785909_161973302)_(161973418_162054090)dup" "" "pathogenic" ""
"0000696639" "0" "99" "6" "162206803" "162206941" "" "0" "02176" "PARK2_000072" "g.(161990449_162206803)_(162206941_162394333)dup" "" "{PMID:Lucking 2000:10824074}" "" "c.735-?_871+?dup" "" "Germline" "" "" "0" "" "" "g.(161569417_161785773)_(161785909_161973302)dup" "" "pathogenic" ""
"0000696640" "0" "99" "6" "161990386" "161990449" "" "0" "02176" "PARK2_000073" "g.(161970036_161990386)_(161990449_162206803)dup" "" "{PMID:Foroud 2003:12629236}" "" "c.872-?_933+?dup" "" "Germline" "" "" "0" "" "" "g.(161549004_161569355)_(161569417_161785773)dup" "" "pathogenic" ""
"0000696641" "0" "99" "6" "161990386" "161990449" "" "0" "02176" "PARK2_000073" "g.(161970036_161990386)_(161990449_162206803)dup" "" "{PMID:Nichols 2002:12114481}" "" "c.872-?_933+?dup" "" "Germline" "" "" "0" "" "" "g.(161549004_161569355)_(161569417_161785773)dup" "" "pathogenic" ""
"0000696642" "0" "99" "6" "161969885" "161970036" "" "0" "02176" "PARK2_000074" "g.(161807910_161969885)_(161970036_161990386)dup" "" "{PMID:Kann 2002:12112109}" "" "c.934-?_1083+?dup" "" "Germline" "" "" "0" "" "" "g.(161386878_161548856)_(161549004_161569355)dup" "" "pathogenic" ""
"0000696643" "0" "99" "6" "161807826" "161807910" "" "0" "02176" "PARK2_000075" "g.(161781238_161807826)_(161807910_161969888)dup" "" "{PMID:Foroud 2003:12629236}" "" "c.1084-?_1167+?dup" "" "Germline" "" "" "0" "" "" "g.(161360206_161386794)_(161386878_161548856)dup" "" "pathogenic" ""
"0000696644" "0" "99" "6" "161781120" "161781238" "" "0" "02176" "PARK2_000076" "g.(161771244_161781120)_(161781238_161807826)dup" "" "{PMID:Lucking 2000:10824074}" "" "c.1168-?_1285+?dup" "" "Germline" "" "" "0" "" "" "g.(161350212_161360088)_(161360206_161386794)dup" "" "pathogenic" ""
"0000696645" "0" "99" "6" "162622163" "162683798" "" "0" "02176" "PARK2_000077" "g.(162475207_162622163)_(162683798_162864342)dup" "" "{PMID:Periquet 2003:12764050}" "" "c.172-?_534+?dup" "" "Germline" "" "" "0" "" "" "g.(162054175_162201131)_(162262766_162443310)dup" "" "pathogenic" ""
"0000696646" "0" "99" "6" "162622162" "162864506" "" "0" "02176" "PARK2_000078" "g.(162475207_162622162)_(162864506_163148693)dup" "" "{PMID:Foroud 2003:12629236}" "" "c.8-?_534+?dup" "" "Germline" "" "" "0" "" "" "g.(162054175_162201131)_(162443474_162727662)dup" "" "pathogenic" ""
"0000696647" "0" "99" "6" "162622162" "162864506" "" "0" "02176" "PARK2_000078" "g.(162475207_162622162)_(162864506_163148693)dup" "" "{PMID:Periquet 2003:12764050}" "" "c.8-?_534+?dup" "" "Germline" "" "" "0" "" "" "g.(162054175_162201131)_(162443474_162727662)dup" "" "pathogenic" ""
"0000696648" "0" "99" "6" "162683556" "162864506" "" "0" "02176" "PARK2_000079" "g.(162622285_162683556)_(162864506_163148693)dup" "" "{PMID:Periquet 2003:12764050}" "" "c.8-?_412+?dup" "" "Germline" "" "" "0" "" "" "g.(162201253_162262525)_(162443474_162727662)dup" "" "pathogenic" ""
"0000696649" "0" "99" "6" "162206805" "162394450" "" "0" "02176" "PARK2_000080" "g.(161990449_162206805)_(162394450_162475122)dup" "" "{PMID:Nichols 2002:12114481}" "" "c.619-?_871+?dup" "" "Germline" "" "" "0" "" "" "g.(161569417_161785773)_(161973418_162054090)dup" "" "pathogenic" ""
"0000696650" "0" "99" "6" "163148693" "163148825" "" "0" "02176" "PARK2_000081" "g.(162864506_163148693)_(163148825_?)del" "" "{PMID:Hedrich 2002:11971093}" "" "c.(?_-103)_7+?dup" "" "Germline" "" "" "0" "" "" "g.(162262766_162443310)_(162727793_?)del" "" "pathogenic" ""
"0000696651" "0" "99" "6" "163148693" "163148825" "" "0" "02176" "PARK2_000081" "g.(162864506_163148693)_(163148825_?)del" "" "{PMID:West 2002:12116199}" "" "c.(?_-103)_7+?dup" "" "Germline" "" "" "0" "" "" "g.(162262766_162443310)_(162727793_?)del" "" "pathogenic" ""
"0000696652" "0" "99" "6" "162864341" "162864506" "" "0" "02176" "PARK2_000082" "g.(162683798_162864341)_(162864506_163148693)del" "" "{PMID:Lucking 2000:10824074}" "" "c.8-?_171+?del" "" "Germline" "" "" "0" "" "" "g.(162262766_162443310)_(162443474_162727662)del" "" "pathogenic" ""
"0000696653" "0" "99" "6" "162683557" "162683798" "" "0" "02176" "PARK2_000083" "g.(162622285_162683557)_(162683798_162864342)del" "" "{PMID:Kitada 1998:9560156}" "" "c.172-?_412+?del" "" "Germline" "" "" "0" "" "" "g.(162201253_162262525)_(162262766_162443310)del" "" "pathogenic" ""
"0000696654" "0" "99" "6" "162683557" "162683798" "" "0" "02176" "PARK2_000083" "g.(162622285_162683557)_(162683798_162864342)del" "" "{PMID:Lucking 2000:10824074}" "" "c.172-?_412+?del" "" "Germline" "" "" "0" "" "" "g.(162201253_162262525)_(162262766_162443310)del" "" "pathogenic" ""
"0000696655" "0" "99" "6" "162622163" "162622285" "" "0" "02176" "PARK2_000084" "g.(162475207_162622163)_(162622285_162683557)del" "" "{PMID:Kitada 1998:9560156}" "" "c.413-?_534+?del" "" "Germline" "" "" "0" "" "" "g.(162054175_162201131)_(162201253_162262525)del" "" "pathogenic" ""
"0000696656" "0" "99" "6" "162622163" "162622285" "" "0" "02176" "PARK2_000084" "g.(162475207_162622163)_(162622285_162683557)del" "" "{PMID:Lucking 2000:10824074}" "" "c.413-?_534+?del" "" "Germline" "" "" "0" "" "" "g.(162054175_162201131)_(162201253_162262525)del" "" "pathogenic" ""
"0000696657" "0" "99" "6" "162475122" "162475207" "" "0" "02176" "PARK2_000085" "g.(162394450_162475122)_(162475207_162622163)del" "" "{PMID:Kitada 1998:9560156}" "" "c.535-?_618+?del" "" "Germline" "" "" "0" "" "" "g.(161973418_162054090)_(162054175_162201131)del" "" "pathogenic" ""
"0000696658" "0" "99" "6" "162475122" "162475207" "" "0" "02176" "PARK2_000085" "g.(162394450_162475122)_(162475207_162622163)del" "" "{PMID:Lucking 2000:10824074}" "" "c.535-?_618+?del" "" "Germline" "" "" "0" "" "" "g.(161973418_162054090)_(162054175_162201131)del" "" "pathogenic" ""
"0000696659" "0" "99" "6" "162394334" "162394450" "" "0" "02176" "PARK2_000086" "g.(162206941_162394334)_(162394450_162475122)del" "" "{PMID:Nichols 2002:12114481}" "" "c.619-?_734+?del" "" "Germline" "" "" "0" "" "" "g.(161785909_161973302)_(161973418_162054090)del" "" "pathogenic" ""
"0000696660" "0" "99" "6" "162206803" "162206941" "" "0" "02176" "PARK2_000087" "g.(161990449_162206803)_(162206941_162394333)del" "" "{PMID:Hedrich 2004:15390068}" "" "c.735-?_871+?del" "" "Germline" "" "" "0" "" "" "g.(161569417_161785773)_(161785909_161973302)del" "" "pathogenic" ""
"0000696661" "0" "99" "6" "161990386" "161990449" "" "0" "02176" "PARK2_000088" "g.(161970036_161990386)_(161990449_162206803)del" "" "{PMID:Lucking 2000:10824074}" "" "c.872-?_933+?del" "" "Germline" "" "" "0" "" "" "g.(161549004_161569355)_(161569417_161785773)del" "" "pathogenic" ""
"0000696662" "0" "99" "6" "161807826" "161807910" "" "0" "02176" "PARK2_000089" "g.(161781238_161807826)_(161807910_161969888)del" "" "{PMID:Foroud 2003:12629236}" "" "c.1084-?_1167+?del" "" "Germline" "" "" "0" "" "" "g.(161360206_161386794)_(161386878_161548856)del" "" "pathogenic" ""
"0000696663" "0" "99" "6" "161807826" "161807910" "" "0" "02176" "PARK2_000089" "g.(161781238_161807826)_(161807910_161969888)del" "" "{PMID:Periquet 2003:12764050}" "" "c.1084-?_1167+?del" "" "Germline" "" "" "0" "" "" "g.(161360206_161386794)_(161386878_161548856)del" "" "pathogenic" ""
"0000696664" "0" "99" "6" "161768590" "161771244" "" "0" "02176" "PARK2_000090" "g.(?_161768590)_(161771244_161781120)del" "" "{PMID:Lucking 1998:9802278}" "" "c.1286-?_(*2679_?)del" "" "Germline" "" "" "0" "" "" "g.(?_161347558)_(161350212_161360088)del" "" "pathogenic" ""
"0000696665" "0" "99" "6" "162394334" "162622285" "" "0" "02176" "PARK2_000091" "g.(162206941_162394334)_(162622285_162683557)del" "" "{PMID:Foroud 2003:12629236}" "" "c.413-?_734+?del" "" "Germline" "" "" "0" "" "" "g.(161785909_161973302)_(162201253_162262525)del" "" "pathogenic" ""
"0000696666" "0" "99" "6" "162394334" "162622285" "" "0" "02176" "PARK2_000091" "g.(162206941_162394334)_(162622285_162683557)del" "" "{PMID:Nichols 2002:12114481}" "" "c.413-?_734+?del" "" "Germline" "" "" "0" "" "" "g.(161785909_161973302)_(162201253_162262525)del" "" "pathogenic" ""
"0000696667" "0" "99" "6" "162206805" "162622285" "" "0" "02176" "PARK2_000092" "g.(161990449_162206805)_(162622285_162683557)del" "" "{PMID:Rawal 2003:12707451}" "" "c.413-?_871+?del" "" "Germline" "" "" "0" "" "" "g.(161569417_161785773)_(162201253_162262525)del" "" "pathogenic" ""
"0000696668" "0" "99" "6" "162206805" "162622285" "" "0" "02176" "PARK2_000092" "g.(161990449_162206805)_(162622285_162683557)del" "" "{PMID:West 2002:12116199}" "" "c.413-?_871+?del" "" "Germline" "" "" "0" "" "" "g.(161569417_161785773)_(162201253_162262525)del" "" "pathogenic" ""
"0000696669" "0" "99" "6" "161969888" "162683798" "" "0" "02176" "PARK2_000093" "g.(161807910_161969888)_(162683798_162864342)del" "" "{PMID:Lucking 2000:10824074}" "" "c.172-?_1083+?del" "" "Germline" "" "" "0" "" "" "g.(161386878_161548856)_(162262766_162443310)del" "" "pathogenic" ""
"0000696670" "0" "99" "6" "162206805" "162683798" "" "0" "02176" "PARK2_000094" "g.(161990449_162206805)_(162683798_162864342)del" "" "{PMID:Kitada 1998:9560156}" "" "c.172-?_871+?del" "" "Germline" "" "" "0" "" "" "g.(161569417_161785773)_(162262766_162443310)del" "" "pathogenic" ""
"0000696671" "0" "99" "6" "162394334" "162683798" "" "0" "02176" "PARK2_000095" "g.(162206941_162394334)_(162683798_162864342)del" "" "{PMID:Lucking 2000:10824074}" "" "c.172-?_734+?del" "" "Germline" "" "" "0" "" "" "g.(161785909_161973302)_(162262766_162443310)del" "" "pathogenic" ""
"0000696672" "0" "99" "6" "162394334" "162683798" "" "0" "02176" "PARK2_000095" "g.(162206941_162394334)_(162683798_162864342)del" "" "{PMID:Rawal 2003:12707451}" "" "c.172-?_734+?del" "" "Germline" "" "" "0" "" "" "g.(161785909_161973302)_(162262766_162443310)del" "" "pathogenic" ""
"0000696673" "0" "99" "6" "162475122" "162683798" "" "0" "02176" "PARK2_000096" "g.(162394450_162475122)_(162683798_162864342)del" "" "{PMID:Periquet 2003:12764050}" "" "c.172-?_618+?del" "" "Germline" "" "" "0" "" "" "g.(161973418_162054090)_(162262766_162443310)del" "" "pathogenic" ""
"0000696674" "0" "99" "6" "162475122" "162683798" "" "0" "02176" "PARK2_000096" "g.(162394450_162475122)_(162683798_162864342)del" "" "{PMID:Rawal 2003:12707451}" "" "c.172-?_618+?del" "" "Germline" "" "" "0" "" "" "g.(161973418_162054090)_(162262766_162443310)del" "" "pathogenic" ""
"0000696675" "0" "99" "6" "162475122" "162683798" "" "0" "02176" "PARK2_000096" "g.(162394450_162475122)_(162683798_162864342)del" "" "{PMID:West 2002:12116199}" "" "c.172-?_618+?del" "" "Germline" "" "" "0" "" "" "g.(161973418_162054090)_(162262766_162443310)del" "" "pathogenic" ""
"0000696676" "0" "99" "6" "162206805" "162394450" "" "0" "02176" "PARK2_000097" "g.(161990449_162206805)_(162394450_162475122)del" "" "{PMID:Lucking 2000:10824074}" "" "c.619-?_871+?del" "" "Germline" "" "" "0" "" "" "g.(161569417_161785773)_(161973418_162054090)del" "" "pathogenic" ""
"0000696677" "0" "99" "6" "162206805" "162394450" "" "0" "02176" "PARK2_000097" "g.(161990449_162206805)_(162394450_162475122)del" "" "{PMID:Maruyama 2000:10939576}" "" "c.619-?_871+?del" "" "Germline" "" "" "0" "" "" "g.(161569417_161785773)_(161973418_162054090)del" "" "pathogenic" ""
"0000696678" "0" "99" "6" "162622163" "162683798" "" "0" "02176" "PARK2_000098" "g.(162475207_162622163)_(162683798_162864342)del" "" "{PMID:Hattori 1998:9851438}" "" "c.172-?_534+?del" "" "Germline" "" "" "0" "" "" "g.(162054175_162201131)_(162262766_162443310)del" "" "pathogenic" ""
"0000696679" "0" "99" "6" "162622163" "162683798" "" "0" "02176" "PARK2_000098" "g.(162475207_162622163)_(162683798_162864342)del" "" "{PMID:Lucking 2000:10824074}" "" "c.172-?_534+?del" "" "Germline" "" "" "0" "" "" "g.(162054175_162201131)_(162262766_162443310)del" "" "pathogenic" ""
"0000696680" "0" "99" "6" "162394334" "162475207" "" "0" "02176" "PARK2_000099" "g.(162206941_162394334)_(162475207_162622163)del" "" "{PMID:Lucking 2000:10824074}" "" "c.535-?_734+?del" "" "Germline" "" "" "0" "" "" "g.(161785909_161973302)_(162054175_162201131)del" "" "pathogenic" ""
"0000696681" "0" "99" "6" "161969885" "161990449" "" "0" "02176" "PARK2_000100" "g.(161807910_161969885)_(161990449_162206803)del" "" "{PMID:Lucking 2000:10824074}" "" "c.872-?_1083+?del" "" "Germline" "" "" "0" "" "" "g.(161386878_161548856)_(161569417_161785773)del" "" "pathogenic" ""
"0000696682" "0" "99" "6" "162475122" "162864506" "" "0" "02176" "PARK2_000101" "g.(162394450_162475122)_(162864506_163148693)del" "" "{PMID:Kann 2002:12112109}" "" "c.8-?_618+?del" "" "Germline" "" "" "0" "" "" "g.(161973418_162054090)_(162443474_162727662)del" "" "pathogenic" ""
"0000696683" "0" "99" "6" "161969885" "162206941" "" "0" "02176" "PARK2_000102" "g.(161807910_161969885)_(162206941_162394333)del" "" "{PMID:Lucking 2000:10824074}" "" "c.735-?_1083+?del" "" "Germline" "" "" "0" "" "" "g.(161386878_161548856)_(161785909_161973302)del" "" "pathogenic" ""
"0000696684" "0" "99" "6" "162622162" "162864506" "" "0" "02176" "PARK2_000103" "g.(162475207_162622162)_(162864506_163148693)del" "" "{PMID:Lucking 2000:10824074}" "" "c.8-?_534+?del" "" "Germline" "" "" "0" "" "" "g.(162054175_162201131)_(162443474_162727662)del" "" "pathogenic" ""
"0000696685" "0" "99" "6" "162622162" "162864506" "" "0" "02176" "PARK2_000103" "g.(162475207_162622162)_(162864506_163148693)del" "" "{PMID:Maruyama 2000:10939576}" "" "c.8-?_534+?del" "" "Germline" "" "" "0" "" "" "g.(162054175_162201131)_(162443474_162727662)del" "" "pathogenic" ""
"0000696686" "0" "99" "6" "162206805" "162475207" "" "0" "02176" "PARK2_000104" "g.(161990449_162206805)_(162475207_162622163)del" "" "{PMID:Leroy 1998:9856485}" "" "c.535-?_871+?del" "" "Germline" "" "" "0" "" "" "g.(161569417_161785773)_(162054175_162201131)del" "" "pathogenic" ""
"0000696687" "0" "99" "6" "162683556" "162864506" "" "0" "02176" "PARK2_000105" "g.(162622285_162683556)_(162864506_163148693)del" "" "{PMID:Foroud 2003:12629236}" "" "c.8-?_412+?del" "" "Germline" "" "" "0" "" "" "g.(162201253_162262525)_(162443474_162727662)del" "" "pathogenic" ""
"0000696688" "0" "99" "6" "162683556" "162864506" "" "0" "02176" "PARK2_000105" "g.(162622285_162683556)_(162864506_163148693)del" "" "{PMID:Lucking 2000:10824074}" "" "c.8-?_412+?del" "" "Germline" "" "" "0" "" "" "g.(162201253_162262525)_(162443474_162727662)del" "" "pathogenic" ""
"0000696689" "0" "99" "6" "162475122" "162622285" "" "0" "02176" "PARK2_000106" "g.(162394450_162475122)_(162622285_162683557)del" "" "{PMID:Kann 2002:12112109}" "" "c.413-?_618+?del" "" "Germline" "" "" "0" "" "" "g.(161973418_162054090)_(162201253_162262525)del" "" "pathogenic" ""
"0000696690" "0" "99" "6" "163148693" "163148825" "" "0" "02176" "PARK2_000107" "g.(162864506_163148693)_(163148825_?)dup" "0/252ctrl chromosomes" "{PMID:Sun 2006:16769863}" "" "ex1 dupl" "" "Germline" "" "" "0" "" "" "g.(162262766_162443310)_(162727793_?)dup" "" "pathogenic" ""
"0000696691" "0" "50" "6" "162864461" "162864461" "subst" "0.000117839" "02176" "PARK2_000134" "g.162864461C>T" "" "{PMID:Annesi 2007:18350652}" "" "" "" "Germline" "" "" "0" "" "" "g.162443429C>T" "" "VUS" ""
"0000696692" "0" "50" "6" "162864418" "162864418" "subst" "8.12559E-6" "02176" "PARK2_000109" "g.162864418T>G" "" "{PMID:Tarantino 2007:18350649}" "" "" "" "Germline" "" "" "0" "" "" "g.162443386T>G" "" "VUS" ""
"0000696693" "0" "50" "6" "162864349" "162864349" "subst" "0" "02176" "PARK2_000110" "g.162864349G>A" "" "{PMID:Rocca 2007:18350651}" "" "" "" "Germline" "" "" "0" "" "" "g.162443317G>A" "" "VUS" ""
"0000696694" "1" "99" "6" "162864357" "162864357" "dup" "0" "02176" "PARK2_000111" "g.162864357dup" "2/72 EOPD, 0/81ctrl" "{PMID:de Cavalho Aguiar 2008:18464276}" "" "156_157insT" "" "Germline" "" "" "0" "" "" "g.162443325dup" "" "pathogenic" ""
"0000696695" "1" "50" "6" "162864479" "162864479" "subst" "0" "02176" "PARK2_000112" "g.162864479C>G" "" "{PMID:Mellick 2008:18486522}" "" "" "" "Germline" "" "" "0" "" "" "g.162443447C>G" "" "VUS" ""
"0000696696" "0" "50" "6" "162683713" "162683713" "subst" "8.12797E-6" "02176" "PARK2_000113" "g.162683713C>T" "" "{PMID:Ciro Candiano 2007:18350653}" "" "" "" "Germline" "" "" "0" "" "" "g.162262681C>T" "" "VUS" ""
"0000696697" "0" "99" "6" "162622163" "162683798" "" "0" "02176" "PARK2_000098" "g.(162475207_162622163)_(162683798_162864342)del" "" "{PMID:de Cavalho Aguiar 2008:18464276}" "" "Ex3 del" "" "Germline" "" "" "0" "" "" "g.(162054175_162201131)_(162262766_162443310)del" "" "pathogenic" ""
"0000696698" "1" "50" "6" "162622239" "162622239" "subst" "0.00131335" "02176" "PARK2_000115" "g.162622239G>C" "1" "{PMID:Clark 2007:17415800}" "" "" "" "Germline" "" "" "0" "" "" "g.162201207G>C" "" "VUS" ""
"0000696699" "1" "50" "6" "162475167" "162475167" "subst" "4.06312E-6" "02176" "PARK2_000116" "g.162475167T>A" "1" "{PMID:Clark 2007:17415800}" "" "" "" "Germline" "" "" "0" "" "" "g.162054135T>A" "" "VUS" ""
"0000696700" "0" "50" "6" "162394434" "162394434" "subst" "0" "02176" "PARK2_000117" "g.162394434A>C" "1/60" "{PMID:Clark 2007:17415800}" "" "" "compund heterozygous" "Germline" "" "" "0" "" "" "g.161973402A>C" "" "VUS" ""
"0000696701" "1" "50" "6" "162206857" "162206857" "subst" "4.87773E-5" "02176" "PARK2_000118" "g.162206857T>C" "1/344 PD, 0/340 ctrl" "{PMID:Lesage 2008:17766365}" "" "" "" "Germline" "" "" "0" "" "" "g.161785825T>C" "" "VUS" ""
"0000696702" "0" "50" "6" "162394367" "162394367" "subst" "0.000113718" "02176" "PARK2_000119" "g.162394367C>T" "1/89 EOPD" "{PMID:Hertz 2006:16643317}" "" "c.802G>A" "compund heterozygous" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000696703" "1" "50" "6" "161990427" "161990427" "subst" "0" "02176" "PARK2_000120" "g.161990427A>C" "1/344 PD, 0/340 ctrl" "{PMID:Lesage 2008:17766365}" "" "" "" "Germline" "" "" "0" "" "" "g.161569395A>C" "" "VUS" ""
"0000696704" "1" "50" "6" "161990401" "161990401" "subst" "0.000556427" "02176" "PARK2_000121" "g.161990401G>A" "1/364 PD, 0/100 ctrl chrms" "{PMID:Sun 2006:16769863}" "" "" "" "Germline" "" "" "0" "" "" "g.161569369G>A" "" "VUS" ""
"0000696705" "1" "50" "6" "161969986" "161969986" "subst" "0" "02176" "PARK2_000046" "g.161969986C>T" "1/344 PD, 0/340 ctrl" "{PMID:Lesage 2008:17766365}" "" "" "" "Germline" "" "" "0" "" "" "g.161548954C>T" "" "VUS" ""
"0000696706" "0" "50" "6" "161781201" "161781201" "subst" "0.00192884" "02176" "PARK2_000123" "g.161781201G>A" "3/604 PD, 0/602 ctrl," "{PMID:Kay 2007:17187375}" "" "" "polymorphism?" "Germline" "" "" "0" "" "" "g.161360169G>A" "" "VUS" ""
"0000696707" "1" "50" "6" "161781200" "161781200" "subst" "6.9035E-5" "02176" "PARK2_000124" "g.161781200C>T" "1/364 PD, 0/100 ctrl chrms" "{PMID:Sun 2006:16769863}" "" "" "" "Germline" "" "" "0" "" "" "g.161360168C>T" "" "VUS" ""
"0000696708" "2" "99" "6" "161781120" "161781238" "" "0" "02176" "PARK2_000076" "g.(161771244_161781120)_(161781238_161807826)dup" "" "{PMID16908747:Chung 2006" "" "Ex11dup" "" "Germline" "" "" "0" "" "" "g.(161350212_161360088)_(161360206_161386794)dup" "" "pathogenic" ""
"0000696709" "1" "99" "6" "162864341" "162864506" "" "0" "02176" "PARK2_000082" "g.(162683798_162864341)_(162864506_163148693)del" "" "{PMID16908747:Chung 2006" "" "c.8-?_171+?del" "" "Germline" "" "" "0" "" "" "g.(162262766_162443310)_(162443474_162727662)del" "" "pathogenic" ""
"0000696710" "2" "99" "6" "162622163" "162683798" "" "0" "02176" "PARK2_000098" "g.(162475207_162622163)_(162683798_162864342)del" "" "{PMID:Chung 2006:16908747}" "" "Ex3 del" "" "Germline" "" "" "0" "" "" "g.(162054175_162201131)_(162262766_162443310)del" "" "pathogenic" ""
"0000696711" "1" "99" "6" "162206803" "162206941" "" "0" "02176" "PARK2_000087" "g.(161990449_162206803)_(162206941_162394333)del" "" "{PMID:Chung 2006:16908747}" "" "Ex7del" "" "Germline" "" "" "0" "" "" "g.(161569417_161785773)_(161785909_161973302)del" "" "pathogenic" ""
"0000696712" "1" "99" "6" "162864341" "162864506" "" "0" "02176" "PARK2_000082" "g.(162683798_162864341)_(162864506_163148693)del" "" "{PMID:Chung 2006:16908747}" "" "c.8-?_171+?del" "" "Germline" "" "" "0" "" "" "g.(162262766_162443310)_(162443474_162727662)del" "" "pathogenic" ""
"0000696713" "2" "99" "6" "162206803" "162206941" "" "0" "02176" "PARK2_000087" "g.(161990449_162206803)_(162206941_162394333)del" "" "{PMID:Chung 2006:16908747}" "" "Ex7del" "" "Germline" "" "" "0" "" "" "g.(161569417_161785773)_(161785909_161973302)del" "" "pathogenic" ""
"0000696714" "1" "99" "6" "162622162" "163148825" "" "0" "02176" "PARK2_000135" "g.(162475207_162622162)_(163148825_?)del" "" "{PMID:Chung 2008:18228570}" "" "c.(?_-103)_534+?del" "" "Germline" "" "" "0" "" "" "g.(162054175_162201131)_(162727793_?)del" "" "pathogenic" ""
"0000696715" "2" "99" "6" "162622163" "162683798" "" "0" "02176" "PARK2_000098" "g.(162475207_162622163)_(162683798_162864342)del" "" "{PMID:Chung 2008:18228570}" "" "Ex3 del" "" "Germline" "" "" "0" "" "" "g.(162054175_162201131)_(162262766_162443310)del" "" "pathogenic" ""
"0000696716" "1" "90" "6" "162864341" "162864506" "" "0" "03800" "PARK2_000082" "g.(162683798_162864341)_(162864506_163148693)del" "" "" "" "c.8-?_171+?del" "" "Germline" "" "" "0" "" "" "g.(162262766_162443310)_(162443474_162727662)del" "" "pathogenic" ""
"0000720802" "0" "30" "6" "161990401" "161990401" "subst" "0.000556427" "01943" "PARK2_000121" "g.161990401G>A" "" "" "" "PRKN(NM_004562.2):c.919C>T (p.L307=), PRKN(NM_004562.3):c.919C>T (p.L307=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000720803" "0" "90" "6" "162206917" "162206917" "subst" "1.62579E-5" "02325" "PARK2_000030" "g.162206917C>T" "" "" "" "PRKN(NM_004562.3):c.758G>A (p.C253Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000802439" "0" "30" "6" "161969952" "161969952" "subst" "0.00116327" "01943" "PARK2_000204" "g.161969952C>T" "" "" "" "PRKN(NM_004562.2):c.1017G>A (p.A339=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000802440" "0" "90" "6" "162206825" "162206825" "subst" "1.22008E-5" "02325" "PARK2_000039" "g.162206825C>G" "" "" "" "PRKN(NM_004562.3):c.850G>C (p.G284R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000802441" "0" "30" "6" "162206837" "162206837" "subst" "0.000166728" "01943" "PARK2_000038" "g.162206837C>T" "" "" "" "PRKN(NM_004562.2):c.838G>A (p.D280N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000851133" "0" "30" "6" "161970055" "161970055" "subst" "0" "02327" "PARK2_000207" "g.161970055G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000851134" "0" "10" "6" "162622304" "162622304" "subst" "0.933874" "02327" "PARK2_000162" "g.162622304A>G" "" "" "" "PRKN(NM_004562.3):c.413-20T>C, PRKN(NM_013987.3):c.413-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000851135" "0" "10" "6" "162683834" "162683835" "del" "0" "02325" "PARK2_000191" "g.162683834_162683835del" "" "" "" "PRKN(NM_004562.3):c.172-19_172-18delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000851136" "0" "10" "6" "162683835" "162683835" "del" "0" "02325" "PARK2_000192" "g.162683835del" "" "" "" "PRKN(NM_004562.3):c.172-18delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000860245" "0" "50" "6" "161771175" "161771175" "subst" "0" "02325" "PARK2_000205" "g.161771175C>T" "" "" "" "PRKN(NM_004562.3):c.1354G>A (p.E452K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000860246" "0" "30" "6" "161781246" "161781246" "subst" "1.21825E-5" "01943" "PARK2_000206" "g.161781246A>G" "" "" "" "PRKN(NM_004562.2):c.1168-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000873174" "0" "70" "6" "161771240" "161771240" "subst" "5.73818E-5" "03208" "PARK2_000061" "g.161771240C>T" "" "Pennings et al. 2022, in progress" "" "NM_004562.2:c.1289G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000873175" "0" "50" "6" "162864346" "162864346" "subst" "1.62561E-5" "03208" "PARK2_000014" "g.162864346A>T" "" "Pennings et al. 2022, in progress" "" "NM_004562.2:c.167T>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" ""
"0000873176" "0" "50" "6" "162394349" "162394349" "subst" "0.000381751" "03208" "PARK2_000133" "g.162394349G>A" "" "Pennings et al. 2022, in progress" "" "NM_004562.2:c.719C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" ""
"0000873177" "0" "90" "6" "162864411" "162864412" "del" "0.000239693" "03208" "PARK2_000007" "g.162864411_162864412del" "" "Pennings et al. 2022, in progress" "" "NM_004562.2:c.101_102del" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000924456" "0" "90" "6" "162864411" "162864412" "del" "0.000239693" "02327" "PARK2_000007" "g.162864411_162864412del" "" "" "" "PARK2(NM_004562.2):c.101_102delAG (p.Q34Rfs*5), PRKN(NM_004562.2):c.101_102delAG (p.Q34Rfs*5), PRKN(NM_004562.3):c.101_102delAG (p.Q34Rfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000995543" "0" "70" "6" "162206852" "162206852" "subst" "0.00191139" "02327" "PARK2_000037" "g.162206852G>A" "" "" "" "PARK2(NM_004562.2):c.823C>T (p.R275W), PRKN(NM_004562.3):c.823C>T (p.R275W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001011882" "3" "90" "6" "162394436" "162394436" "subst" "0" "00006" "PARK2_000208" "g.162394436T>A" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Germline" "" "" "0" "" "" "g.161973404T>A" "VCV000649578.2" "pathogenic (recessive)" ""
"0001025192" "0" "50" "6" "162864415" "162864415" "subst" "8.53173E-5" "01943" "PARK2_000006" "g.162864415C>T" "" "" "" "PARK2(NM_004562.2):c.98G>A (p.R33Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001044635" "0" "50" "6" "161969999" "161969999" "subst" "0" "03779" "PARK2_000209" "g.161969999C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0001045254" "1" "90" "6" "161771130" "163148701" "del" "0" "00006" "PARK2_000210" "g.(?_161771130)_(163148701_?)del" "" "{PMID:Jones 2015:26086840}" "" "" "SNP microarray 121–201 kb PARK2 deletion suggested to have no effect" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_161350098)_(62727669_?)del" "" "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 PARK2
## Count = 266
"{{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}}"
"0000010450" "00001486" "50" "735" "-23401" "735" "-23400" "c.735-23401_735-23400insC" "r.(?)" "p.(=)" "7i"
"0000012429" "00001486" "50" "1083" "40248" "1083" "40248" "c.1083+40248A>C" "r.(=)" "p.(=)" ""
"0000237901" "00001486" "90" "172" "-1" "618" "1" "c.(171+1_172-1)_(618+1_619-1)del" "r.(?)" "p.del?" "2i_5i"
"0000237902" "00001486" "90" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(Arg275Trp)" "7"
"0000248330" "00001486" "10" "413" "-20" "413" "-20" "c.413-20T>C" "r.(=)" "p.(=)" ""
"0000249374" "00001486" "30" "957" "0" "957" "0" "c.957T>C" "r.(?)" "p.(Gly319=)" ""
"0000250065" "00001486" "10" "413" "-20" "413" "-20" "c.413-20T>C" "r.(=)" "p.(=)" ""
"0000253799" "00001486" "10" "171" "25" "171" "25" "c.171+25T>C" "r.(=)" "p.(=)" ""
"0000296760" "00001486" "30" "1118" "0" "1118" "0" "c.1118A>C" "r.(?)" "p.(His373Pro)" ""
"0000296761" "00001486" "10" "1138" "0" "1138" "0" "c.1138G>C" "r.(?)" "p.(Val380Leu)" ""
"0000296762" "00001486" "50" "1310" "0" "1310" "0" "c.1310C>T" "r.(?)" "p.(Pro437Leu)" ""
"0000298792" "00001486" "10" "1138" "0" "1138" "0" "c.1138G>C" "r.(?)" "p.(Val380Leu)" ""
"0000298793" "00001486" "10" "1180" "0" "1180" "0" "c.1180G>A" "r.(?)" "p.(Asp394Asn)" ""
"0000298795" "00001486" "10" "500" "0" "500" "0" "c.500G>A" "r.(?)" "p.(Ser167Asn)" ""
"0000298796" "00001486" "50" "766" "0" "766" "0" "c.766C>T" "r.(?)" "p.(Arg256Cys)" ""
"0000305002" "00001486" "30" "1000" "0" "1000" "0" "c.1000C>T" "r.(?)" "p.(Arg334Cys)" ""
"0000305003" "00001486" "90" "101" "0" "102" "0" "c.101_102del" "r.(?)" "p.(Gln34ArgfsTer5)" ""
"0000305004" "00001486" "10" "101" "0" "101" "0" "c.101A>G" "r.(?)" "p.(Gln34Arg)" ""
"0000305005" "00001486" "30" "1061" "0" "1061" "0" "c.1061G>A" "r.(?)" "p.(Gly354Glu)" ""
"0000305007" "00001486" "30" "1137" "0" "1137" "0" "c.1137C>T" "r.(?)" "p.(Ala379=)" ""
"0000305008" "00001486" "10" "1138" "0" "1138" "0" "c.1138G>C" "r.(?)" "p.(Val380Leu)" ""
"0000305009" "00001486" "10" "1180" "0" "1180" "0" "c.1180G>A" "r.(?)" "p.(Asp394Asn)" ""
"0000305010" "00001486" "50" "1310" "0" "1310" "0" "c.1310C>T" "r.(?)" "p.(Pro437Leu)" ""
"0000305011" "00001486" "90" "155" "0" "155" "0" "c.155del" "r.(?)" "p.(Asn52MetfsTer29)" ""
"0000305012" "00001486" "50" "23" "0" "23" "0" "c.23A>C" "r.(?)" "p.(Asn8Thr)" ""
"0000305013" "00001486" "50" "245" "0" "245" "0" "c.245C>A" "r.(?)" "p.(Ala82Glu)" ""
"0000305015" "00001486" "50" "458" "0" "458" "0" "c.458C>G" "r.(?)" "p.(Pro153Arg)" ""
"0000305016" "00001486" "30" "48" "0" "48" "0" "c.48G>A" "r.(?)" "p.(Glu16=)" ""
"0000305017" "00001486" "10" "500" "0" "500" "0" "c.500G>A" "r.(?)" "p.(Ser167Asn)" ""
"0000305018" "00001486" "30" "522" "0" "522" "0" "c.522C>T" "r.(?)" "p.(Leu174=)" ""
"0000305019" "00001486" "90" "633" "0" "633" "0" "c.633A>T" "r.(?)" "p.(Lys211Asn)" ""
"0000305020" "00001486" "30" "7" "4" "7" "4" "c.7+4C>T" "r.spl?" "p.?" ""
"0000305021" "00001486" "50" "701" "0" "701" "0" "c.701G>A" "r.(?)" "p.(Arg234Gln)" ""
"0000305022" "00001486" "10" "714" "0" "714" "0" "c.714C>T" "r.(?)" "p.(Cys238=)" ""
"0000305023" "00001486" "30" "735" "-8" "735" "-8" "c.735-8C>T" "r.(=)" "p.(=)" ""
"0000305024" "00001486" "50" "766" "0" "766" "0" "c.766C>T" "r.(?)" "p.(Arg256Cys)" ""
"0000305025" "00001486" "10" "783" "0" "783" "0" "c.783A>G" "r.(?)" "p.(Leu261=)" ""
"0000305027" "00001486" "50" "930" "0" "930" "0" "c.930G>C" "r.(?)" "p.(Glu310Asp)" ""
"0000344356" "00001486" "50" "994" "0" "994" "0" "c.994T>C" "r.(?)" "p.(Cys332Arg)" ""
"0000344359" "00001486" "50" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Cys337Tyr)" ""
"0000347686" "00001486" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" ""
"0000368892" "00001486" "70" "534" "42943" "618" "24032" "c.534+42943_618+24032delinsAGGCATCACTC" "r.?" "p.?" ""
"0000368960" "00001486" "70" "8" "-60777" "171" "26821" "c.8-60777_171+26821del" "r.?" "p.(Val3Glufs*3)" ""
"0000368961" "00001486" "70" "172" "-41049" "412" "28296" "c.172-41049_412+28296del" "r.?" "p.(Asn58Glnfs*39)" ""
"0000368998" "00001486" "70" "412" "16037" "734" "54332" "c.412+16037_734+54332delinsATCTGATAAAGTCAG" "r.?" "p.(Ala138Glyfs*14)" ""
"0000368999" "00001486" "70" "413" "-19615" "534" "16749" "c.413-19615_534+16749del" "r.?" "p.(Ala138Glyfs*7)" ""
"0000527920" "00001486" "50" "1204" "0" "1204" "0" "c.1204C>T" "r.(?)" "p.(Arg402Cys)" ""
"0000527921" "00001486" "30" "1204" "0" "1204" "0" "c.1204C>T" "r.(?)" "p.(Arg402Cys)" ""
"0000527922" "00001486" "50" "1204" "0" "1204" "0" "c.1204C>T" "r.(?)" "p.(Arg402Cys)" ""
"0000527923" "00001486" "90" "1083" "1" "1083" "1" "c.1083+1dup" "r.spl?" "p.?" ""
"0000527924" "00001486" "30" "919" "0" "919" "0" "c.919C>T" "r.(?)" "p.(Leu307=)" ""
"0000527925" "00001486" "90" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(Arg275Trp)" ""
"0000527926" "00001486" "90" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(Arg275Trp)" ""
"0000527927" "00001486" "50" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(Arg275Trp)" ""
"0000527928" "00001486" "50" "789" "0" "789" "0" "c.789T>G" "r.(?)" "p.(Cys263Trp)" ""
"0000527929" "00001486" "50" "727" "0" "727" "0" "c.727G>A" "r.(?)" "p.(Asp243Asn)" ""
"0000527930" "00001486" "30" "727" "0" "727" "0" "c.727G>A" "r.(?)" "p.(Asp243Asn)" ""
"0000527931" "00001486" "90" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Thr240Met)" ""
"0000527932" "00001486" "50" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Thr240Met)" ""
"0000527933" "00001486" "30" "276" "0" "276" "0" "c.276G>A" "r.(?)" "p.(Ala92=)" ""
"0000527934" "00001486" "10" "172" "-18" "172" "-18" "c.172-18T>A" "r.(=)" "p.(=)" ""
"0000527935" "00001486" "30" "172" "-38" "172" "-18" "c.172-38_172-18dup" "r.(=)" "p.(=)" ""
"0000527936" "00001486" "30" "172" "-19" "172" "-18" "c.172-19_172-18del" "r.(=)" "p.(=)" ""
"0000527937" "00001486" "30" "172" "-18" "172" "-18" "c.172-18del" "r.(=)" "p.(=)" ""
"0000527938" "00001486" "50" "110" "0" "110" "0" "c.110C>T" "r.(?)" "p.(Pro37Leu)" ""
"0000527939" "00001486" "90" "101" "0" "102" "0" "c.101_102del" "r.(?)" "p.(Gln34ArgfsTer5)" ""
"0000610214" "00001486" "50" "1000" "0" "1000" "0" "c.1000C>T" "r.(?)" "p.(Arg334Cys)" ""
"0000610215" "00001486" "30" "919" "0" "919" "0" "c.919C>T" "r.(?)" "p.(Leu307=)" ""
"0000610216" "00001486" "90" "735" "-2" "735" "-2" "c.735-2A>G" "r.spl?" "p.?" ""
"0000610217" "00001486" "50" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Thr240Met)" ""
"0000610218" "00001486" "30" "534" "9" "534" "9" "c.534+9A>G" "r.(=)" "p.(=)" ""
"0000621671" "00001486" "50" "1375" "0" "1375" "0" "c.1375G>A" "r.(?)" "p.(Gly459Arg)" ""
"0000621672" "00001486" "30" "258" "0" "258" "0" "c.258C>T" "r.(?)" "p.(Asp86=)" ""
"0000621673" "00001486" "10" "172" "-12" "172" "-12" "c.172-12G>T" "r.(=)" "p.(=)" ""
"0000651884" "00001486" "90" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(Arg275Trp)" ""
"0000651885" "00001486" "90" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Cys212Tyr)" ""
"0000651886" "00001486" "10" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Ala46Thr)" ""
"0000689680" "00001486" "30" "761" "0" "761" "0" "c.761A>G" "r.(?)" "p.(Asn254Ser)" ""
"0000689681" "00001486" "90" "167" "0" "167" "0" "c.167T>A" "r.(?)" "p.(Val56Glu)" ""
"0000696551" "00001486" "50" "-21" "0" "-21" "0" "c.-21G>T" "r.(?)" "p.(=)" "_1"
"0000696552" "00001486" "99" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.0?" "1"
"0000696553" "00001486" "99" "7" "1" "7" "1" "c.7+1G>A" "r.spl" "p.?" "1i"
"0000696554" "00001486" "50" "43" "0" "43" "0" "c.43G>A" "r.(?)" "p.(Val15Met)" "2"
"0000696555" "00001486" "99" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(Arg33*)" "2"
"0000696556" "00001486" "50" "98" "0" "98" "0" "c.98G>A" "r.(?)" "p.(Arg33Gln)" "2"
"0000696557" "00001486" "99" "101" "0" "102" "0" "c.101_102del" "r.(?)" "p.(Gln34Argfs*5)" "2"
"0000696558" "00001486" "99" "101" "0" "101" "0" "c.101del" "r.(?)" "p.(Gln34Argfs*10)" "2"
"0000696559" "00001486" "99" "101" "0" "101" "0" "c.101del" "r.(?)" "p.(Gln34Argfs*10)" "2"
"0000696560" "00001486" "50" "110" "0" "110" "0" "c.110C>T" "r.(?)" "p.(Pro37Leu)" "2"
"0000696561" "00001486" "50" "125" "0" "125" "0" "c.125G>C" "r.(?)" "p.(Arg42Pro)" "2"
"0000696562" "00001486" "50" "136" "0" "136" "0" "c.136G>C" "r.(?)" "p.(Ala46Pro)" "2"
"0000696563" "00001486" "99" "154" "0" "155" "0" "c.154_155del" "r.(?)" "p.(Asn52*)" "2"
"0000696564" "00001486" "99" "155" "0" "155" "0" "c.155del" "r.(?)" "p.(Asn52Metfs*29)" "2"
"0000696565" "00001486" "50" "167" "0" "167" "0" "c.167T>A" "r.(?)" "p.(Val56Glu)" "2"
"0000696566" "00001486" "99" "220" "0" "221" "0" "c.220_221insGT" "r.(?)" "p.(Trp74Cysfs*8)" "3"
"0000696567" "00001486" "99" "235" "0" "235" "0" "c.235G>T" "r.(?)" "p.(Glu79*)" "3"
"0000696568" "00001486" "50" "245" "0" "245" "0" "c.245C>A" "r.(?)" "p.(Ala82Glu)" "3"
"0000696569" "00001486" "50" "300" "0" "300" "0" "c.300G>C" "r.(?)" "p.(Gln100His)" "3"
"0000696570" "00001486" "99" "337" "0" "376" "0" "c.337_376del" "r.(?)" "p.(Pro113Thrfs*51)" "3"
"0000696571" "00001486" "50" "372" "0" "372" "0" "c.372C>T" "r.(?)" "p.(His124=)" "3"
"0000696572" "00001486" "50" "483" "0" "483" "0" "c.483A>T" "r.(?)" "p.(Lys161Asn)" "4"
"0000696573" "00001486" "50" "500" "0" "500" "0" "c.500G>A" "r.(?)" "p.(Ser167Asn)" "4"
"0000696574" "00001486" "50" "500" "0" "500" "0" "c.500G>A" "r.(?)" "p.(Ser167Asn)" "4"
"0000696575" "00001486" "99" "536" "0" "536" "0" "c.536del" "r.(?)" "p.(Gly179Valfs*9)" "5"
"0000696576" "00001486" "50" "574" "0" "574" "0" "c.574A>C" "r.(?)" "p.(Met192Leu)" "5"
"0000696577" "00001486" "50" "574" "0" "574" "0" "c.574A>G" "r.(?)" "p.(Met192Val)" "5"
"0000696578" "00001486" "99" "618" "2" "618" "2" "c.618+2T>A" "r.spl" "p.?" "5i"
"0000696579" "00001486" "50" "632" "0" "632" "0" "c.632A>G" "r.(?)" "p.(Lys211Arg)" "6"
"0000696580" "00001486" "50" "633" "0" "633" "0" "c.633A>T" "r.(?)" "p.(Lys211Asn)" "6"
"0000696581" "00001486" "50" "635" "0" "635" "0" "c.635G>A" "r.(?)" "p.(Cys212Tyr)" "6"
"0000696582" "00001486" "50" "719" "0" "719" "0" "c.719C>G" "r.(?)" "p.(Thr240Arg)" "6"
"0000696583" "00001486" "50" "719" "0" "719" "0" "c.719C>G" "r.(?)" "p.(Thr240Arg)" "6"
"0000696584" "00001486" "50" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Thr240Met)" "6"
"0000696585" "00001486" "50" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Thr240Met)" "6"
"0000696586" "00001486" "50" "758" "0" "758" "0" "c.758G>A" "r.(?)" "p.(Cys253Tyr)" "7"
"0000696587" "00001486" "50" "759" "0" "759" "0" "c.759C>G" "r.(?)" "p.(Cys253Trp)" "7"
"0000696588" "00001486" "50" "766" "0" "766" "0" "c.766C>T" "r.(?)" "p.(Arg256Cys)" "7"
"0000696589" "00001486" "99" "770" "0" "770" "0" "c.770del" "r.(?)" "p.(His257Profs*2)" "7"
"0000696590" "00001486" "50" "783" "0" "783" "0" "c.783A>G" "r.(?)" "p.(Leu261=)" "7"
"0000696591" "00001486" "99" "804" "0" "804" "0" "c.804T>A" "r.(?)" "p.(Cys268*)" "7"
"0000696592" "00001486" "50" "813" "0" "813" "0" "c.813A>T" "r.(?)" "p.(Arg271Ser)" "7"
"0000696593" "00001486" "50" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(Arg275Trp)" "7"
"0000696594" "00001486" "50" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Asp280Asn)" "7"
"0000696595" "00001486" "50" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Asp280Asn)" "7"
"0000696596" "00001486" "50" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Asp280Asn)" "7"
"0000696597" "00001486" "50" "850" "0" "850" "0" "c.850G>C" "r.(?)" "p.(Gly284Arg)" "7"
"0000696598" "00001486" "50" "865" "0" "865" "0" "c.865T>G" "r.(?)" "p.(Cys289Gly)" "7"
"0000696599" "00001486" "99" "871" "1" "871" "1" "c.871+1del" "r.spl?" "p.?" "7i"
"0000696600" "00001486" "99" "872" "-1" "872" "-1" "c.872-1G>C" "r.spl" "p.?" "7i"
"0000696601" "00001486" "99" "931" "0" "931" "0" "c.931C>T" "r.(?)" "p.(Gln311*)" "8"
"0000696602" "00001486" "99" "971" "0" "971" "0" "c.971del" "r.(?)" "p.(Val324Alafs*111)" "9"
"0000696603" "00001486" "99" "971" "0" "971" "0" "c.971del" "r.(?)" "p.(Val324Alafs*111)" "9"
"0000696604" "00001486" "99" "973" "0" "973" "0" "c.973del" "r.(?)" "p.(Leu325Cysfs*110)" "9"
"0000696605" "00001486" "50" "1000" "0" "1000" "0" "c.1000C>T" "r.(?)" "p.(Arg334Cys)" "9"
"0000696606" "00001486" "50" "983" "0" "983" "0" "c.983G>A" "r.(?)" "p.(Gly328Glu)" "9"
"0000696607" "00001486" "50" "1015" "0" "1015" "0" "c.1015G>T" "r.(?)" "p.(Ala339Ser)" "9"
"0000696608" "00001486" "99" "1041" "0" "1042" "0" "c.1041_1042del" "r.(?)" "p.(Arg348Glufs*21)" "9"
"0000696609" "00001486" "99" "1046" "0" "1047" "0" "c.1046_1047del" "r.(?)" "p.(Lys349Serfs*20)" "9"
"0000696610" "00001486" "99" "1046" "0" "1047" "0" "c.1046_1047del" "r.(?)" "p.(Lys349Serfs*20)" "9"
"0000696611" "00001486" "50" "1051" "0" "1051" "0" "c.1051A>C" "r.(?)" "p.(Thr351Pro)" "9"
"0000696612" "00001486" "50" "1051" "0" "1051" "0" "c.1051A>C" "r.(?)" "p.(Thr351Pro)" "9"
"0000696613" "00001486" "99" "1083" "4" "1083" "4" "c.1083+4G>A" "r.spl?" "p.?" "9i"
"0000696614" "00001486" "50" "1096" "0" "1096" "0" "c.1096C>T" "r.(?)" "p.(Arg366Trp)" "10"
"0000696615" "00001486" "50" "1138" "0" "1138" "0" "c.1138G>A" "r.(?)" "p.(Val380Ile)" "10"
"0000696616" "00001486" "99" "1176" "0" "1177" "0" "c.1176_1177del" "r.(?)" "p.(Arg392Serfs*3)" "11"
"0000696617" "00001486" "50" "1180" "0" "1180" "0" "c.1180G>A" "r.(?)" "p.(Asp394Asn)" "11"
"0000696618" "00001486" "50" "1192" "0" "1192" "0" "c.1192G>A" "r.(?)" "p.(Ala398Thr)" "11"
"0000696619" "00001486" "50" "1192" "0" "1192" "0" "c.1192G>A" "r.(?)" "p.(Ala398Thr)" "11"
"0000696620" "00001486" "99" "1225" "0" "1225" "0" "c.1225G>T" "r.(?)" "p.(Glu409*)" "11"
"0000696621" "00001486" "99" "1244" "0" "1244" "0" "c.1244C>A" "r.(?)" "p.(Thr415Asn)" "11"
"0000696622" "00001486" "50" "1283" "0" "1283" "0" "c.1283dup" "r.(?)" "p.(Asn428Lysfs*141)" "11"
"0000696623" "00001486" "50" "1289" "0" "1289" "0" "c.1289G>A" "r.(?)" "p.(Gly430Asp)" "12"
"0000696624" "00001486" "50" "1292" "0" "1292" "0" "c.1292G>T" "r.(?)" "p.(Cys431Phe)" "12"
"0000696625" "00001486" "50" "1310" "0" "1310" "0" "c.1310C>T" "r.(?)" "p.(Pro437Leu)" "12"
"0000696626" "00001486" "50" "1310" "0" "1310" "0" "c.1310C>T" "r.(?)" "p.(Pro437Leu)" "12"
"0000696627" "00001486" "50" "1321" "0" "1321" "0" "c.1321T>C" "r.(?)" "p.(Cys441Arg)" "12"
"0000696628" "00001486" "99" "1334" "0" "1334" "0" "c.1334G>A" "r.(?)" "p.(Trp445*)" "12"
"0000696629" "00001486" "99" "1358" "0" "1358" "0" "c.1358G>A" "r.(?)" "p.(Trp453*)" "12"
"0000696630" "00001486" "99" "0" "0" "0" "0" "c.(7+1_8-1)_(171+1_172-1)[3]" "r.?" "p.?" "1i_3i"
"0000696631" "00001486" "99" "0" "0" "0" "0" "c.(7+1_8-1)_(171+1_172-1)[3]" "r.?" "p.?" "1i_3i"
"0000696632" "00001486" "99" "172" "-1" "412" "1" "c.(171+1_172-1)_(412+1_413-1)dup" "r.?" "p.?" "2i_3i"
"0000696633" "00001486" "99" "413" "-1" "534" "1" "c.(412+1_413-1)_(534+1_535-1)dup" "r.?" "p.?" "3i_4i"
"0000696634" "00001486" "99" "413" "-1" "534" "1" "c.(412+1_413-1)_(534+1_535-1)dup" "r.?" "p.?" "3i_4i"
"0000696635" "00001486" "99" "535" "-1" "618" "1" "c.(534+1_535-1)_(618+1_619-1)dup" "r.?" "p.?" "4i_5i"
"0000696636" "00001486" "99" "535" "-1" "618" "1" "c.(534+1_535-1)_(618+1_619-1)dup" "r.?" "p.?" "4i_5i"
"0000696637" "00001486" "99" "619" "-1" "734" "1" "c.(618+1_619-1)_(734+1_735-1)dup" "r.?" "p.?" "5i_6i"
"0000696638" "00001486" "99" "619" "-1" "734" "1" "c.(618+1_619-1)_(734+1_735-1)dup" "r.?" "p.?" "5i_6i"
"0000696639" "00001486" "99" "735" "-1" "871" "1" "c.(734+1_735-1)_(871+1_872-1)dup" "r.?" "p.?" "6i_7i"
"0000696640" "00001486" "99" "872" "-1" "933" "1" "c.(871+1_872-1)_(933+1_934-1)dup" "r.?" "p.?" "7i_8i"
"0000696641" "00001486" "99" "872" "-1" "933" "1" "c.(871+1_872-1)_(933+1_934-1)dup" "r.?" "p.?" "7i_8i"
"0000696642" "00001486" "99" "934" "-1" "1083" "1" "c.(933+1_934-1)_(1083+1_1084-1)dup" "r.?" "p.?" "8i_9i"
"0000696643" "00001486" "99" "1084" "-1" "1167" "1" "c.(1083+1_1084-1)_(1167+1_1168-1)dup" "r.?" "p.?" "9i_10i"
"0000696644" "00001486" "99" "1168" "-1" "1285" "1" "c.(1167+1_1168-1)_(1285+1_1286-1)dup" "r.?" "p.?" "10i_11i"
"0000696645" "00001486" "99" "172" "-1" "534" "1" "c.(171+1_172-1)_(534+1_535-1)dup" "r.?" "p.?" "2i_4i"
"0000696646" "00001486" "99" "8" "-1" "534" "1" "c.(7+1_8-1)_(534+1_535-1)dup" "r.?" "p.?" "1i_4i"
"0000696647" "00001486" "99" "8" "-1" "534" "1" "c.(7+1_8-1)_(534+1_535-1)dup" "r.?" "p.?" "1i_4i"
"0000696648" "00001486" "99" "8" "-1" "412" "1" "c.(7+1_8-1)_(412+1_413-1)dup" "r.?" "p.?" "1i_3i"
"0000696649" "00001486" "99" "619" "-1" "871" "1" "c.(618+1_619-1)_(871+1_872-1)dup" "r.?" "p.?" "5i_7i"
"0000696650" "00001486" "99" "0" "0" "0" "0" "c.-125_(7+1_8-1){0}" "r.0?" "p.0?" "_1_1i"
"0000696651" "00001486" "99" "0" "0" "0" "0" "c.-125_(7+1_8-1){0}" "r.0?" "p.0?" "_1_1i"
"0000696652" "00001486" "99" "8" "-1" "171" "1" "c.(7+1_8-1)_(171+1_172-1)del" "r.?" "p.?" "1i_3i"
"0000696653" "00001486" "99" "172" "-1" "412" "1" "c.(171+1_172-1)_(412+1_413-1)del" "r.?" "p.?" "2i_3i"
"0000696654" "00001486" "99" "172" "-1" "412" "1" "c.(171+1_172-1)_(412+1_413-1)del" "r.?" "p.?" "2i_3i"
"0000696655" "00001486" "99" "413" "-1" "534" "1" "c.(412+1_413-1)_(534+1_535-1)del" "r.?" "p.?" "3i_4i"
"0000696656" "00001486" "99" "413" "-1" "534" "1" "c.(412+1_413-1)_(534+1_535-1)del" "r.?" "p.?" "3i_4i"
"0000696657" "00001486" "99" "535" "-1" "618" "1" "c.(534+1_535-1)_(618+1_619-1)del" "r.?" "p.?" "4i_5i"
"0000696658" "00001486" "99" "535" "-1" "618" "1" "c.(534+1_535-1)_(618+1_619-1)del" "r.?" "p.?" "4i_5i"
"0000696659" "00001486" "99" "619" "-1" "734" "1" "c.(618+1_619-1)_(734+1_735-1)del" "r.?" "p.?" "5i_6i"
"0000696660" "00001486" "99" "735" "-1" "871" "1" "c.(734+1_735-1)_(871+1_872-1)del" "r.?" "p.?" "6i_7i"
"0000696661" "00001486" "99" "872" "-1" "933" "1" "c.(871+1_872-1)_(933+1_934-1)del" "r.?" "p.?" "7i_8i"
"0000696662" "00001486" "99" "1084" "-1" "1167" "1" "c.(1083+1_1084-1)_(1167+1_1168-1)del" "r.?" "p.?" "9i_10i"
"0000696663" "00001486" "99" "1084" "-1" "1167" "1" "c.(1083+1_1084-1)_(1167+1_1168-1)del" "r.?" "p.?" "9i_10i"
"0000696664" "00001486" "99" "0" "0" "0" "0" "c.(1285+1_1286-1)_*2541{0}" "r.?" "p.?" "11i_12_"
"0000696665" "00001486" "99" "413" "-1" "734" "1" "c.(412+1_413-1)_(734+1_735-1)del" "r.?" "p.?" "3i_6i"
"0000696666" "00001486" "99" "413" "-1" "734" "1" "c.(412+1_413-1)_(734+1_735-1)del" "r.?" "p.?" "3i_6i"
"0000696667" "00001486" "99" "413" "-1" "871" "1" "c.(412+1_413-1)_(871+1_872-1)del" "r.?" "p.?" "3i_7i"
"0000696668" "00001486" "99" "413" "-1" "871" "1" "c.(412+1_413-1)_(871+1_872-1)del" "r.?" "p.?" "3i_7i"
"0000696669" "00001486" "99" "172" "-1" "1083" "1" "c.(171+1_172-1)_(1083+1_1084-1)del" "r.?" "p.?" "2i_9i"
"0000696670" "00001486" "99" "172" "-1" "871" "1" "c.(171+1_172-1)_(871+1_872-1)del" "r.?" "p.?" "2i_7i"
"0000696671" "00001486" "99" "172" "-1" "734" "1" "c.(171+1_172-1)_(734+1_735-1)del" "r.?" "p.?" "2i_6i"
"0000696672" "00001486" "99" "172" "-1" "734" "1" "c.(171+1_172-1)_(734+1_735-1)del" "r.?" "p.?" "2i_6i"
"0000696673" "00001486" "99" "172" "-1" "618" "1" "c.(171+1_172-1)_(618+1_619-1)del" "r.?" "p.?" "2i_5i"
"0000696674" "00001486" "99" "172" "-1" "618" "1" "c.(171+1_172-1)_(618+1_619-1)del" "r.?" "p.?" "2i_5i"
"0000696675" "00001486" "99" "172" "-1" "618" "1" "c.(171+1_172-1)_(618+1_619-1)del" "r.?" "p.?" "2i_5i"
"0000696676" "00001486" "99" "619" "-1" "871" "1" "c.(618+1_619-1)_(871+1_872-1)del" "r.?" "p.?" "5i_7i"
"0000696677" "00001486" "99" "619" "-1" "871" "1" "c.(618+1_619-1)_(871+1_872-1)del" "r.?" "p.?" "5i_7i"
"0000696678" "00001486" "99" "172" "-1" "534" "1" "c.(171+1_172-1)_(534+1_535-1)del" "r.?" "p.?" "2i_4i"
"0000696679" "00001486" "99" "172" "-1" "534" "1" "c.(171+1_172-1)_(534+1_535-1)del" "r.?" "p.?" "2i_4i"
"0000696680" "00001486" "99" "535" "-1" "734" "1" "c.(534+1_535-1)_(734+1_735-1)del" "r.?" "p.?" "4i_7i"
"0000696681" "00001486" "99" "872" "-1" "1083" "1" "c.(871+1_872-1)_(1083+1_1084-1)del" "r.?" "p.?" "7i_9i"
"0000696682" "00001486" "99" "8" "-1" "618" "1" "c.(7+1_8-1)_(618+1_619-1)del" "r.?" "p.?" "1i_5i"
"0000696683" "00001486" "99" "735" "-1" "1083" "1" "c.(734+1_735-1)_(1083+1_1084-1)del" "r.?" "p.?" "6i_9i"
"0000696684" "00001486" "99" "8" "-1" "534" "1" "c.(7+1_8-1)_(534+1_535-1)del" "r.?" "p.?" "1i_4i"
"0000696685" "00001486" "99" "8" "-1" "534" "1" "c.(7+1_8-1)_(534+1_535-1)del" "r.?" "p.?" "1i_4i"
"0000696686" "00001486" "99" "535" "-1" "871" "1" "c.(534+1_535-1)_(871+1_872-1)del" "r.?" "p.?" "4i_7i"
"0000696687" "00001486" "99" "8" "-1" "412" "1" "c.(7+1_8-1)_(412+1_413-1)del" "r.?" "p.?" "1i_3i"
"0000696688" "00001486" "99" "8" "-1" "412" "1" "c.(7+1_8-1)_(412+1_413-1)del" "r.?" "p.?" "1i_3i"
"0000696689" "00001486" "99" "413" "-1" "618" "1" "c.(412+1_413-1)_(618+1_619-1)del" "r.?" "p.?" "3i_5i"
"0000696690" "00001486" "99" "0" "0" "0" "0" "c.-125_(7+1_8-1){2}" "r.0?" "p.0?" "_1_1i"
"0000696691" "00001486" "50" "52" "0" "52" "0" "c.52G>A" "r.(?)" "p.(Asp18Asn)" "2"
"0000696692" "00001486" "50" "95" "0" "95" "0" "c.95A>C" "r.(?)" "p.(Lys32Thr)" "2"
"0000696693" "00001486" "50" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Thr55Ile)" "2"
"0000696694" "00001486" "99" "156" "0" "156" "0" "c.156dup" "r.(?)" "p.(Asp53*)" "2"
"0000696695" "00001486" "50" "34" "0" "34" "0" "c.34G>C" "r.(?)" "p.(Gly12Arg)" "2"
"0000696696" "00001486" "50" "256" "0" "256" "0" "c.256G>A" "r.(?)" "p.(Asp86Asn)" "3"
"0000696697" "00001486" "99" "172" "-1" "534" "1" "c.(171+1_172-1)_(534+1_535-1)del" "r.?" "p.?" "2i_4i"
"0000696698" "00001486" "50" "458" "0" "458" "0" "c.458C>G" "r.(?)" "p.(Pro153Arg)" "4"
"0000696699" "00001486" "50" "574" "0" "574" "0" "c.574A>T" "r.(?)" "p.(Met192Leu)" "5"
"0000696700" "00001486" "50" "634" "0" "634" "0" "c.634T>G" "r.(?)" "p.(Cys212Gly)" "6"
"0000696701" "00001486" "50" "818" "0" "818" "0" "c.818A>G" "r.(?)" "p.(Asn273Ser)" "7"
"0000696702" "00001486" "50" "701" "0" "701" "0" "c.701G>A" "r.(?)" "p.(Arg234Gln)" "7"
"0000696703" "00001486" "50" "893" "0" "893" "0" "c.893T>G" "r.(?)" "p.(Ile298Ser)" "8"
"0000696704" "00001486" "50" "919" "0" "919" "0" "c.919C>T" "r.(?)" "p.(Leu307=)" "8"
"0000696705" "00001486" "50" "983" "0" "983" "0" "c.983G>A" "r.(?)" "p.(Gly328Glu)" "9"
"0000696706" "00001486" "50" "1204" "0" "1204" "0" "c.1204C>T" "r.(?)" "p.(Arg402Cys)" "11"
"0000696707" "00001486" "50" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Arg402His)" "11"
"0000696708" "00001486" "99" "1168" "-1" "1285" "1" "c.(1167+1_1168-1)_(1285+1_1286-1)dup" "r.?" "p.?" "10i_11i"
"0000696709" "00001486" "99" "8" "-1" "171" "1" "c.(7+1_8-1)_(171+1_172-1)del" "r.?" "p.?" "1i_3i"
"0000696710" "00001486" "99" "172" "-1" "534" "1" "c.(171+1_172-1)_(534+1_535-1)del" "r.?" "p.?" "2i_4i"
"0000696711" "00001486" "99" "735" "-1" "871" "1" "c.(734+1_735-1)_(871+1_872-1)del" "r.?" "p.?" "6i_7i"
"0000696712" "00001486" "99" "8" "-1" "171" "1" "c.(7+1_8-1)_(171+1_172-1)del" "r.?" "p.?" "1i_3i"
"0000696713" "00001486" "99" "735" "-1" "871" "1" "c.(734+1_735-1)_(871+1_872-1)del" "r.?" "p.?" "6i_7i"
"0000696714" "00001486" "99" "0" "0" "0" "0" "c.-125_(534+1_535-1){0}" "r.0?" "p.0?" "_1_4i"
"0000696715" "00001486" "99" "172" "-1" "534" "1" "c.(171+1_172-1)_(534+1_535-1)del" "r.?" "p.?" "2i_4i"
"0000696716" "00001486" "90" "8" "-1" "171" "1" "c.(7+1_8-1)_(171+1_172-1)del" "r.?" "p.?" "1i_3i"
"0000720802" "00001486" "30" "919" "0" "919" "0" "c.919C>T" "r.(?)" "p.(Leu307=)" ""
"0000720803" "00001486" "90" "758" "0" "758" "0" "c.758G>A" "r.(?)" "p.(Cys253Tyr)" ""
"0000802439" "00001486" "30" "1017" "0" "1017" "0" "c.1017G>A" "r.(?)" "p.(Ala339=)" ""
"0000802440" "00001486" "90" "850" "0" "850" "0" "c.850G>C" "r.(?)" "p.(Gly284Arg)" ""
"0000802441" "00001486" "30" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Asp280Asn)" ""
"0000851133" "00001486" "30" "934" "-20" "934" "-20" "c.934-20C>T" "r.(=)" "p.(=)" ""
"0000851134" "00001486" "10" "413" "-20" "413" "-20" "c.413-20T>C" "r.(=)" "p.(=)" ""
"0000851135" "00001486" "10" "172" "-19" "172" "-18" "c.172-19_172-18del" "r.(=)" "p.(=)" ""
"0000851136" "00001486" "10" "172" "-18" "172" "-18" "c.172-18del" "r.(=)" "p.(=)" ""
"0000860245" "00001486" "50" "1354" "0" "1354" "0" "c.1354G>A" "r.(?)" "p.(Glu452Lys)" ""
"0000860246" "00001486" "30" "1168" "-9" "1168" "-9" "c.1168-9T>C" "r.(=)" "p.(=)" ""
"0000873174" "00001486" "70" "1289" "0" "1289" "0" "c.1289G>A" "r.(?)" "p.(Gly430Asp)" ""
"0000873175" "00001486" "50" "167" "0" "167" "0" "c.167T>A" "r.(?)" "p.(Val56Glu)" ""
"0000873176" "00001486" "50" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Thr240Met)" ""
"0000873177" "00001486" "90" "101" "0" "102" "0" "c.101_102del" "r.(?)" "p.(Gln34Argfs*5)" ""
"0000924456" "00001486" "90" "101" "0" "102" "0" "c.101_102del" "r.(?)" "p.(Gln34ArgfsTer5)" ""
"0000995543" "00001486" "70" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(Arg275Trp)" ""
"0001011882" "00001486" "90" "632" "0" "632" "0" "c.632A>T" "r.(?)" "p.(Lys211Ile)" ""
"0001025192" "00001486" "50" "98" "0" "98" "0" "c.98G>A" "r.(?)" "p.(Arg33Gln)" ""
"0001044635" "00001486" "50" "970" "0" "970" "0" "c.970G>T" "r.(?)" "p.(Val324Phe)" ""
"0001045254" "00001486" "90" "-1" "0" "1399" "0" "c.(?_-1)_(*1_?)del" "r.0?" "p.0?" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 184
"{{screeningid}}" "{{variantid}}"
"0000000210" "0000010450"
"0000000210" "0000012429"
"0000145528" "0000237901"
"0000145528" "0000237902"
"0000165234" "0000368892"
"0000165301" "0000368960"
"0000165301" "0000368961"
"0000165302" "0000368998"
"0000165302" "0000368999"
"0000295195" "0000651884"
"0000295196" "0000651885"
"0000295197" "0000651886"
"0000314644" "0000696551"
"0000314645" "0000696552"
"0000314646" "0000696553"
"0000314647" "0000696554"
"0000314648" "0000696555"
"0000314649" "0000696556"
"0000314650" "0000696557"
"0000314651" "0000696558"
"0000314652" "0000696559"
"0000314653" "0000696560"
"0000314654" "0000696561"
"0000314655" "0000696562"
"0000314656" "0000696563"
"0000314657" "0000696564"
"0000314658" "0000696565"
"0000314659" "0000696566"
"0000314660" "0000696567"
"0000314661" "0000696568"
"0000314662" "0000696569"
"0000314663" "0000696570"
"0000314664" "0000696571"
"0000314665" "0000696572"
"0000314666" "0000696573"
"0000314667" "0000696574"
"0000314668" "0000696575"
"0000314669" "0000696576"
"0000314670" "0000696577"
"0000314671" "0000696578"
"0000314672" "0000696579"
"0000314673" "0000696580"
"0000314674" "0000696581"
"0000314675" "0000696582"
"0000314676" "0000696583"
"0000314677" "0000696584"
"0000314678" "0000696585"
"0000314679" "0000696586"
"0000314680" "0000696587"
"0000314681" "0000696588"
"0000314682" "0000696589"
"0000314683" "0000696590"
"0000314684" "0000696591"
"0000314685" "0000696592"
"0000314686" "0000696593"
"0000314687" "0000696594"
"0000314688" "0000696595"
"0000314689" "0000696596"
"0000314690" "0000696597"
"0000314691" "0000696598"
"0000314692" "0000696599"
"0000314693" "0000696600"
"0000314694" "0000696601"
"0000314695" "0000696602"
"0000314696" "0000696603"
"0000314697" "0000696604"
"0000314698" "0000696605"
"0000314698" "0000696606"
"0000314699" "0000696607"
"0000314700" "0000696608"
"0000314701" "0000696609"
"0000314702" "0000696610"
"0000314703" "0000696611"
"0000314704" "0000696612"
"0000314705" "0000696613"
"0000314706" "0000696614"
"0000314707" "0000696615"
"0000314708" "0000696616"
"0000314709" "0000696617"
"0000314710" "0000696618"
"0000314711" "0000696619"
"0000314712" "0000696620"
"0000314713" "0000696621"
"0000314714" "0000696622"
"0000314715" "0000696623"
"0000314716" "0000696624"
"0000314717" "0000696625"
"0000314718" "0000696626"
"0000314719" "0000696627"
"0000314720" "0000696628"
"0000314721" "0000696629"
"0000314722" "0000696630"
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