### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = EDNRB)
# 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}}"
"EDNRB"	"endothelin receptor type B"	"13"	"q22"	"unknown"	"NG_011630.3"	"UD_134408246071"	""	"https://www.LOVD.nl/EDNRB"	""	"1"	"3180"	"1910"	"131244"	"1"	"1"	"1"	"1"	"<b>Initiated as Waardenburg syndrome gene variant databases by Veronique Pingault.</b>\r\nEstablishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"http://databases.lovd.nl/shared/refseq/EDNRB_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2009-10-05 00:00:00"	"00006"	"2020-10-26 16:45:05"	"00000"	"2025-11-01 13:22:20"


## Transcripts ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00006875"	"EDNRB"	"transcript variant 1"	"001"	"NM_000115.3"	""	"NP_000106.1"	""	""	""	"-234"	"4048"	"1329"	"78549664"	"78469616"	""	"0000-00-00 00:00:00"	""	""
"00025878"	"EDNRB"	"transcript variant 3"	"004"	"NM_001122659.2"	""	"NP_001116131.1"	""	""	""	"-258"	"4048"	"1329"	"78492966"	"78469616"	"00006"	"2023-11-08 14:26:07"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 12
"{{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"
"00926"	"melanoma"	"melanoma"	""	""	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2017-07-24 11:48:38"
"00981"	"ABCDS"	"ABCD syndrome (ABCDS)"	"AR"	"600501"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"00982"	"WS4A"	"Waardenburg syndrome, type 4A (WS4A)"	"AD;AR"	"277580"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01604"	"WS1"	"Waardenburg syndrome, type 1 (WS1)"	"AD"	"193500"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"02292"	"HSCR2"	"Hirschsprung disease, susceptibility to, type 2 (HSCR-2)"	"AD"	"600155"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"05086"	"HL"	"hearing loss (HL)"	""	""	""	""	""	"00006"	"2015-10-23 11:41:05"	"00006"	"2015-10-23 11:43:00"
"05103"	"deafness"	"deafness"	""	""	""	""	""	"00006"	"2015-12-02 12:30:46"	"00006"	"2017-08-25 19:47:08"
"05667"	"WS"	"Waardenburg syndrome (WS)"	""	""	""	""	""	"00008"	"2019-10-30 16:28:42"	"00006"	"2021-12-10 21:51:32"
"05863"	"HSCR"	"Hirschsprung disease (HSCR)"	""	""	""	""	""	"00006"	"2020-10-26 17:45:34"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{geneid}}"	"{{diseaseid}}"
"EDNRB"	"00981"
"EDNRB"	"00982"
"EDNRB"	"02292"
"EDNRB"	"05667"


## Individuals ## Do not remove or alter this header ##
## Count = 81
"{{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}}"
"00089039"	""	""	""	"1"	""	"01741"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00284961"	""	""	""	"1"	""	"00004"	"{PMID:Soufir 2005:16145050}"	""	""	""	""	""	"0"	""	""	""	""
"00284962"	""	""	""	"1"	""	"00004"	"{PMID:Garcia-Barceló 2004:14633923}"	""	""	""	""	""	"0"	""	""	""	""
"00284964"	""	""	""	"1"	""	"00004"	"{PMID:Tanaka 1998:9556633}"	""	""	""	""	""	"0"	""	""	""	""
"00284966"	""	""	""	"1"	""	"00004"	"{PMID:Garcia-Barceló 2004:14633923}"	""	""	""	""	""	"0"	""	""	""	""
"00284967"	""	""	""	"1"	""	"00004"	"{PMID:Amiel 1996:8852660}"	""	""	""	""	""	"0"	""	""	""	""
"00284968"	""	""	""	"1"	""	"00004"	"{PMID:Doubaj 2015:25852447}"	""	""	""	""	""	"0"	""	""	""	""
"00284969"	""	""	""	"1"	""	"00004"	"{PMID:Auricchio 1996:8852659}"	""	""	""	""	""	"0"	""	""	""	""
"00284970"	""	""	""	"1"	""	"00004"	"{PMID:Hofstra 1996:8630503}"	""	""	""	""	""	"0"	""	""	""	""
"00284971"	""	""	""	"1"	""	"00004"	"{PMID:Pingault 2010:20127975}, {PMID:Xiong 2015:25525159}"	""	""	""	""	""	"0"	""	""	""	""
"00284974"	""	""	""	"1"	""	"00004"	"{PMID:Pingault 2010:20127975}, {PMID:Xiong 2015:25525159}"	""	""	""	""	""	"0"	""	""	""	""
"00284975"	""	""	""	"1"	""	"00004"	"{PMID:Soufir 2007:17223014}"	""	""	""	""	""	"0"	""	""	""	""
"00284976"	""	""	""	"1"	""	"00004"	"{PMID:Amiel 1996:8852660}"	""	""	""	""	""	"0"	""	""	""	""
"00284977"	""	""	""	"1"	""	"00004"	"{PMID:Garcia-Barceló 2004:14633923}"	""	""	""	""	""	"0"	""	""	""	""
"00284978"	""	""	""	"1"	""	"00004"	"{PMID:Sakai 2000:10664228}"	""	""	""	""	""	"0"	""	""	""	""
"00284981"	""	""	""	"1"	""	"00004"	"{PMID:Kusafuka 1996:8852658}"	""	""	""	""	""	"0"	""	""	""	""
"00284982"	""	""	""	"1"	""	"00004"	"{PMID:Parisi 1993:20301612}, {PMID:Puffenberger 1994:8001158}"	""	""	""	""	""	"0"	""	""	""	""
"00284983"	""	""	""	"1"	""	"00004"	"{PMID:Kusafuka 1996:8852658}, {PMID:Xiong 2015:25525159}"	""	""	""	""	""	"0"	""	""	""	""
"00284985"	""	""	""	"1"	""	"00004"	"{PMID:Inoue 1998:9721987}"	""	""	""	""	""	"0"	""	""	""	""
"00284987"	""	""	""	"1"	""	"00004"	"{PMID:Syrris 1999:10528251}, {PMID:Xiong 2015:25525159}"	""	""	""	""	""	"0"	""	""	""	""
"00284988"	""	""	""	"1"	""	"00004"	"{PMID:Soufir 2005:16145050}"	""	""	""	""	""	"0"	""	""	""	""
"00284989"	""	""	""	"1"	""	"00004"	"{PMID:Garcia-Barceló 2004:14633923}"	""	""	""	""	""	"0"	""	""	""	""
"00284990"	""	""	""	"1"	""	"00004"	"{PMID:Svensson 1999:10334478}"	""	""	""	""	""	"0"	""	""	""	""
"00284992"	""	""	""	"1"	""	"00004"	"{PMID:Gross 1995:7778600}, {PMID:Verheij 2002:11891690}, {PMID:Xiong 2015:25525159}"	""	""	""	""	""	"0"	""	""	""	""
"00284995"	""	""	""	"1"	""	"00004"	"{PMID:Payne 2001:11565546}"	""	""	""	""	""	"0"	""	""	""	""
"00284996"	""	""	""	"1"	""	"00004"	"{PMID:Zhou 2006:16944573}"	""	""	""	""	""	"0"	""	""	""	""
"00284998"	""	""	""	"1"	""	"00004"	"{PMID:Lin 2008:18162831}"	""	""	""	""	""	"0"	""	""	""	""
"00285000"	""	""	""	"1"	""	"00004"	"{PMID:Lin 2008:18162831}"	""	""	""	""	""	"0"	""	""	""	""
"00285001"	""	""	""	"1"	""	"00004"	"{PMID:Sánchez-Mejías 2010:20009762}"	""	""	""	""	""	"0"	""	""	""	""
"00285002"	""	""	""	"1"	""	"00004"	"{PMID:Granström 2014:24726125}"	""	""	""	""	""	"0"	""	""	""	""
"00285003"	""	""	""	"1"	""	"00004"	"{PMID:Lin 2008:18162831}"	""	""	""	""	""	"0"	""	""	""	""
"00285004"	""	""	""	"1"	""	"00004"	"{PMID:Sánchez-Mejías 2010:20009762}"	""	""	""	""	""	"0"	""	""	""	""
"00285005"	""	""	""	"1"	""	"00004"	"{PMID:Sangkhathat 2006:17009072}"	""	""	""	""	""	"0"	""	""	""	""
"00285006"	""	""	""	"1"	""	"00004"	"{PMID:Tanaka 1998:9556633}"	""	""	""	""	""	"0"	""	""	""	""
"00285007"	""	""	""	"1"	""	"00004"	"{PMID:Miyagawa 2013:23967202}"	""	""	""	""	""	"0"	""	""	""	""
"00285008"	""	""	""	"1"	""	"00004"	"{PMID:Chen 2006:16618617}"	""	""	""	""	""	"0"	""	""	""	""
"00285009"	""	""	""	"1"	""	"00004"	"{PMID:Sánchez-Mejías 2010:20009762}"	""	""	""	""	""	"0"	""	""	""	""
"00285010"	""	""	""	"1"	""	"00004"	"{PMID:Sánchez-Mejías 2010:20009762}"	""	""	""	""	""	"0"	""	""	""	""
"00285012"	""	""	""	"1"	""	"00004"	"{PMID:Parisi 1993:20301612}, {PMID:Sánchez-Mejías 2010:20009762}"	""	""	""	""	""	"0"	""	""	""	""
"00315523"	""	""	""	"1"	""	"03808"	"-"	""	""	""	""	""	"0"	""	""	""	""
"00315524"	""	""	""	"1"	""	"03808"	"-"	""	""	""	""	""	"0"	""	""	""	""
"00315525"	""	""	""	"1"	""	"03808"	"-"	""	""	""	""	""	"0"	""	""	""	""
"00315526"	""	""	""	"1"	""	"03808"	"{PMID:Amiel 1996:8852660}, {PMID:Hofstra 1996:8630503}"	""	""	""	""	""	"0"	""	""	""	""
"00315527"	""	""	""	"1"	""	"03808"	"{PMID:Zaahl 2003:12628594}"	""	""	""	"China"	""	"0"	""	""	""	""
"00315528"	""	""	""	"1"	""	"03808"	"-"	""	""	""	""	""	"0"	""	""	""	""
"00315529"	""	""	""	"1"	""	"03808"	"-"	""	""	""	""	""	"0"	""	""	""	""
"00315530"	""	""	""	"1"	""	"03808"	"{PMID:Pingault 2010:20127975}"	"consanguineous family"	"F"	""	"Brazil"	""	"0"	""	""	""	""
"00315531"	""	""	""	"1"	""	"03808"	"{PMID:Pingault 2010:20127975}"	""	""	""	""	""	"0"	""	""	""	""
"00315532"	""	""	""	"1"	""	"03808"	"{PMID:Attie 1995:7643365}, {PMID:Attie 1995:8634719}"	""	"F"	"yes"	"Tunisia"	""	"0"	""	""	""	""
"00315533"	""	""	""	"1"	""	"03808"	"{PMID:Garcia-Barcelo 2004:14633923}"	""	""	""	"China"	""	"0"	""	""	""	""
"00315534"	""	""	""	"1"	""	"03808"	"{PMID:Boardman 2001:11565556}"	""	"F"	"no"	"Somalia"	""	"0"	""	""	""	""
"00315535"	""	""	""	"1"	""	"03808"	"{PMID:Sangkhathat 2005:16237557}"	""	"F"	"no"	"Thailand"	""	"0"	""	""	""	""
"00315536"	""	""	""	"1"	""	"03808"	"{PMID:Pingault 2010:20127975}"	""	"M"	""	""	""	"0"	""	""	""	""
"00315537"	""	""	""	"1"	""	"03808"	"{PMID:Verheij 2002:11891690}"	""	""	"yes"	"Turkey"	""	"0"	""	""	""	""
"00315538"	""	""	""	"1"	""	"03808"	"{PMID:Pingault 2010:20127975}"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	""
"00315539"	""	""	""	"1"	""	"03808"	"{PMID:Pingault 2010:20127975}"	""	""	""	"Italy"	""	"0"	""	""	""	""
"00315540"	""	""	""	"1"	""	"03808"	"-"	""	""	""	""	""	"0"	""	""	""	""
"00315541"	""	""	""	"1"	""	"03808"	"{PMID:Syrris 1999:10528251}"	""	""	""	""	""	"0"	""	""	"Caribbean"	""
"00315542"	""	""	""	"1"	""	"03808"	"{PMID:Pingault 2010:20127975}"	""	""	""	""	""	"0"	""	""	""	""
"00315543"	""	""	""	"1"	""	"03808"	"{PMID:Pingault 2010:20127975}"	""	""	""	"Italy"	""	"0"	""	""	""	""
"00315544"	""	""	""	"1"	""	"03808"	"{PMID:Puffenberger 1994:8001158}"	"very large inbred family over several generations"	""	"yes"	"United States"	""	"0"	""	""	"Mennonite"	""
"00315545"	""	""	""	"1"	""	"03808"	"{PMID:Pingault 2002:12189494}"	""	""	""	""	""	"0"	""	""	""	""
"00315546"	""	""	""	"1"	""	"03808"	"{PMID:Pingault 2010:20127975}"	""	"M"	"yes"	""	""	"0"	""	""	""	""
"00315547"	""	""	""	"1"	""	"03808"	"{PMID:Auricchio 1996:8852659}"	""	""	""	"Italy"	""	"0"	""	""	""	""
"00315548"	""	""	""	"1"	""	"03808"	"{PMID:Pingault 2010:20127975}"	""	"M"	""	""	""	"0"	""	""	""	""
"00315549"	""	""	""	"2"	""	"03808"	"{PMID:[Haddad (2011)]:21373256}"	""	"M"	"yes"	"Lebanon"	""	"0"	""	""	""	""
"00315550"	""	""	""	"1"	""	"03808"	"{PMID:Pingault 2010:20127975}"	""	""	""	"Lebanon"	""	"0"	""	""	""	""
"00315551"	""	""	""	"1"	""	"03808"	"{PMID:Pingault 2010:20127975}"	""	""	""	""	""	"0"	""	""	""	""
"00315552"	""	""	""	"1"	""	"03808"	"{PMID:Van Camp 1995:7562965}"	""	"M"	""	""	""	"0"	""	""	""	""
"00315553"	""	""	""	"1"	""	"03808"	"{PMID:Shanske 2001:11484199}"	""	"F"	""	""	""	"0"	""	""	"West Africa"	""
"00315554"	""	""	""	"1"	""	"03808"	"{PMID:Tuysuz 2009:19764031}"	"+ 13q deletion syndrome"	"M"	""	""	""	"0"	""	""	""	""
"00315555"	""	""	""	"1"	""	"03808"	"{PMID:Tuysuz 2009:19764031}}"	"+ 13q deletion syndrome"	"F"	""	""	""	"0"	""	""	""	""
"00315556"	""	""	""	"1"	""	"03808"	"{PMID:Tuysuz 2009:19764031}}"	"+ 13q deletion syndrome"	"F"	""	""	""	"0"	""	""	""	""
"00315557"	""	""	""	"5"	""	"03808"	"{PMID:Cui 2013:23840513}"	"3-generation family, 5 affected (2F, 3M), mixed phenotypes"	"M"	""	"Brazil"	""	"0"	""	""	"European"	"FamPatII5"
"00315558"	""	""	""	"1"	""	"03808"	"{PMID:Jabeen 2012:21547364}"	""	""	""	"Pakistan"	""	"0"	""	""	""	""
"00361903"	""	""	""	"1"	""	"03219"	""	""	""	""	""	""	""	""	""	""	""
"00410946"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2017:29106856}"	""	"F"	"no"	"China"	""	"0"	""	""	"Chinese"	"II-4"
"00410947"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2017:29106856}"	""	"M"	"no"	"China"	""	"0"	""	""	"Chinese"	"II-5"
"00441187"	""	""	""	"1"	""	"00006"	"{PMID:Richard 2019: 30303587}"	""	""	"yes"	"Pakistan"	""	"0"	""	""	""	"DEM4005"
"00441513"	""	""	""	"1"	""	"00006"	"{PMID:Boucher 2020:33229591}"	""	""	""	"France"	""	"0"	""	""	""	"5426"
"00465491"	""	""	""	"1"	""	"00006"	"{PMID:Wu 2019:31581539}"	"analysis 1291 cases hearing loss"	""	""	"Taiwan"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 82
"{{individualid}}"	"{{diseaseid}}"
"00089039"	"02292"
"00284961"	"00926"
"00284962"	"00198"
"00284964"	"00198"
"00284966"	"00198"
"00284967"	"00198"
"00284968"	"00198"
"00284969"	"00198"
"00284970"	"00198"
"00284971"	"00198"
"00284974"	"00198"
"00284975"	"00926"
"00284976"	"00198"
"00284977"	"00198"
"00284978"	"00198"
"00284981"	"00198"
"00284982"	"00198"
"00284983"	"00198"
"00284985"	"00198"
"00284987"	"05667"
"00284988"	"00926"
"00284989"	"00198"
"00284990"	"00198"
"00284992"	"00198"
"00284995"	"05667"
"00284996"	"00198"
"00284998"	"00198"
"00285000"	"00198"
"00285001"	"00198"
"00285002"	"00198"
"00285003"	"00198"
"00285004"	"00198"
"00285005"	"00198"
"00285006"	"00198"
"00285007"	"05103"
"00285008"	"00198"
"00285009"	"00198"
"00285010"	"00198"
"00285012"	"00198"
"00315523"	"00000"
"00315524"	"00000"
"00315525"	"00000"
"00315526"	"00000"
"00315527"	"05863"
"00315528"	"00000"
"00315529"	"00000"
"00315530"	"05667"
"00315531"	"05667"
"00315532"	"05667"
"00315533"	"05863"
"00315534"	"05667"
"00315535"	"05667"
"00315536"	"05667"
"00315537"	"00198"
"00315538"	"05667"
"00315539"	"05667"
"00315540"	"00000"
"00315541"	"05667"
"00315542"	"05667"
"00315543"	"05667"
"00315544"	"05667"
"00315545"	"05667"
"00315546"	"05667"
"00315547"	"05863"
"00315548"	"05667"
"00315549"	"05667"
"00315550"	"05667"
"00315551"	"05667"
"00315552"	"05667"
"00315553"	"05667"
"00315554"	"05667"
"00315555"	"05667"
"00315556"	"00198"
"00315557"	"05863"
"00315558"	"05667"
"00361903"	"00982"
"00361903"	"01604"
"00410946"	"04214"
"00410947"	"04214"
"00441187"	"05086"
"00441513"	"05086"
"00465491"	"05086"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00926, 00981, 00982, 01604, 02292, 04214, 05086, 05103, 05667, 05863
## Count = 81
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000068457"	"02292"	"00089039"	"01741"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000217127"	"00198"	"00284962"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Hirschsprung disease"	""
"0000217129"	"00198"	"00284964"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Hirschsprung disease"	""
"0000217131"	"00198"	"00284966"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Hirschsprung disease"	""
"0000217132"	"00198"	"00284967"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Hirschsprung disease"	""
"0000217133"	"00198"	"00284968"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Shah-Waardenburg syndrome"	""
"0000217134"	"00198"	"00284969"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Hirschsprung disease"	""
"0000217135"	"00198"	"00284970"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Hirschsprung disease"	""
"0000217136"	"00198"	"00284971"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Shah-Waardenburg syndrome"	""
"0000217139"	"00198"	"00284974"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Shah-Waardenburg syndrome"	""
"0000217140"	"00198"	"00284976"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Hirschsprung disease"	""
"0000217141"	"00198"	"00284977"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Hirschsprung disease"	""
"0000217142"	"00198"	"00284978"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Hirschsprung disease"	""
"0000217144"	"00198"	"00284981"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Hirschsprung disease"	""
"0000217145"	"00198"	"00284982"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Hirschsprung disease"	""
"0000217146"	"00198"	"00284983"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Hirschsprung disease"	""
"0000217148"	"00198"	"00284985"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Hirschsprung disease"	""
"0000217150"	"00198"	"00284989"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Hirschsprung disease"	""
"0000217151"	"00198"	"00284990"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Hirschsprung disease"	""
"0000217153"	"00198"	"00284992"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"ABCD syndrome"	""
"0000217155"	"00198"	"00284996"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Hirschsprung disease"	""
"0000217157"	"00198"	"00284998"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Hirschsprung disease"	""
"0000217159"	"00198"	"00285000"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Hirschsprung disease"	""
"0000217160"	"00198"	"00285001"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Hirschsprung disease"	""
"0000217161"	"00198"	"00285002"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Hirschsprung disease with multiple sclerosis"	""
"0000217162"	"00198"	"00285003"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Hirschsprung disease"	""
"0000217163"	"00198"	"00285004"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Hirschsprung disease"	""
"0000217164"	"00198"	"00285005"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Hirschsprung disease"	""
"0000217165"	"00198"	"00285006"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Hirschsprung disease"	""
"0000217166"	"00198"	"00285008"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Hirschsprung disease"	""
"0000217167"	"00198"	"00285009"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Hirschsprung disease"	""
"0000217168"	"00198"	"00285010"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Hirschsprung disease"	""
"0000217170"	"00198"	"00285012"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"type 2"	"Hirschsprung disease"	""
"0000217975"	"00926"	"00284961"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Melanoma"	""
"0000217976"	"00926"	"00284975"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Melanoma"	""
"0000217977"	"00926"	"00284988"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Melanoma"	""
"0000218573"	"05103"	"00285007"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"deafness"	""
"0000219386"	"05667"	"00284987"	"00008"	"Unknown"	""	"Hirschsprung disease"	""	""	""	""	""	""	""	""	""	"Waardenburg syndrome"	""
"0000219388"	"05667"	"00284995"	"00008"	"Unknown"	""	"Hirschsprung disease"	""	""	""	""	""	""	""	""	""	"Waardenburg syndrome"	""
"0000239268"	"00000"	"00315523"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000239269"	"00000"	"00315524"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000239270"	"00000"	"00315525"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000239271"	"00000"	"00315526"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000239272"	"05863"	"00315527"	"03808"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"Hirschsprung disease"	""
"0000239273"	"00000"	"00315528"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000239274"	"00000"	"00315529"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000239275"	"05667"	"00315530"	"03808"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"WS4"	"Waardenburg syndrome"	""
"0000239276"	"05667"	"00315531"	"03808"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"WS4"	"Waardenburg syndrome"	""
"0000239277"	"05667"	"00315532"	"03808"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"WS4"	"Waardenburg syndrome"	""
"0000239278"	"05863"	"00315533"	"03808"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"Hirschsprung disease"	""
"0000239279"	"05667"	"00315534"	"03808"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"WS4"	"Waardenburg syndrome"	""
"0000239280"	"05667"	"00315535"	"03808"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"WS4"	"Waardenburg syndrome"	""
"0000239281"	"05667"	"00315536"	"03808"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"WS4"	"Waardenburg syndrome"	""
"0000239282"	"00198"	"00315537"	"03808"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Waardenburg syndrome, ABCD syndrome"	""
"0000239283"	"05667"	"00315538"	"03808"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"WS4"	"Waardenburg syndrome"	""
"0000239284"	"05667"	"00315539"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"WS4"	"Waardenburg syndrome, no deafness"	""
"0000239285"	"00000"	"00315540"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000239286"	"05667"	"00315541"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"WS4"	"Waardenburg syndrome"	""
"0000239287"	"05667"	"00315542"	"03808"	"Familial, autosomal recessive"	""	"depigmentation in father"	""	""	""	""	""	""	""	""	"WS4"	"Waardenburg syndrome"	""
"0000239288"	"05667"	"00315543"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"WS4"	"Waardenburg syndrome"	""
"0000239289"	"05667"	"00315544"	"03808"	"Familial, autosomal recessive"	""	"depigmentations in heterozygous relatives"	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239290"	"05667"	"00315545"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"WS4"	"Waardenburg syndrome"	""
"0000239291"	"05667"	"00315546"	"03808"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"WS4"	"Waardenburg syndrome"	""
"0000239292"	"05863"	"00315547"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Hirschsprung disease"	""
"0000239293"	"05667"	"00315548"	"03808"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"WS4"	"Waardenburg syndrome"	""
"0000239294"	"05667"	"00315549"	"03808"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"WS4"	"Waardenburg syndrome"	""
"0000239295"	"05667"	"00315550"	"03808"	"Familial, autosomal recessive"	""	"depigmentations in relatives"	""	""	""	""	""	""	""	""	"WS4"	"Waardenburg syndrome"	""
"0000239296"	"05667"	"00315551"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239297"	"05667"	"00315552"	"03808"	"Isolated (sporadic)"	""	"psychomotor delay"	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239298"	"05667"	"00315553"	"03808"	"Isolated (sporadic)"	""	"psychomotor delay"	""	""	""	""	""	""	""	""	"WS4"	"Waardenburg syndrome"	""
"0000239299"	"05667"	"00315554"	"03808"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"WS4"	"Waardenburg syndrome, no deafness"	""
"0000239300"	"05667"	"00315555"	"03808"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239301"	"00198"	"00315556"	"03808"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"Mild unilateral deafness"	""
"0000239303"	"05667"	"00315558"	"03808"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"WS4"	"Waardenburg syndrome"	""
"0000239313"	"05863"	"00315557"	"03808"	"Familial, autosomal dominant"	""	"see paper; ...,  Hirschsprung disease, heterochromia iridum"	""	""	""	""	""	""	""	""	""	"Hirschsprung disease"	""
"0000257299"	"01604"	"00361903"	"03219"	"Familial, autosomal dominant"	""	"Heterochromia iris, telecanthus, white forelock, bilateral profound to severe hearing loss and hypopigmented patches of skin on the forehead, chest and upper limbs. Father (II-2) and paternal grandmother (I-2) had  heterochromis irides. Mother (II-3) had white forelock"	""	""	""	""	""	""	""	""	""	""	""
"0000303036"	"04214"	"00410946"	"00000"	"Familial, autosomal recessive"	"67y"	"heterochromia irides, night blindness and vision acuity impairment, constriction of the peripheral visual field, with mild-to-severe loss of central vision, attenuation of the retinal vessels, waxy pallor of the optic nerve head, and bone speckle-like pigmentation clumps in the peripheral retina"	""	""	""	""	""	""	""	""	"Usher syndrome type II (USH2)"	"bilateral moderate-to-severe hearing impairment"	""
"0000303037"	"04214"	"00410947"	"00000"	"Familial, autosomal recessive"	"64y"	"night blindness and vision acuity impairment, constriction of the peripheral visual field, with mild-to-severe loss of central vision, attenuation of the retinal vessels, waxy pallor of the optic nerve head, and bone speckle-like pigmentation clumps in the peripheral retina"	""	""	""	""	""	""	""	""	"Usher syndrome type II (USH2)"	"bilateral moderate-to-severe hearing impairment"	""
"0000330627"	"05086"	"00441187"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"hearing loss"	""
"0000330951"	"05086"	"00441513"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"simplex/sporadic age-related hearing loss"	""
"0000351039"	"05086"	"00465491"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"hearing loss"	""


## Screenings ## Do not remove or alter this header ##
## Count = 81
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000089182"	"00089039"	"1"	"01741"	"01741"	"2016-11-28 14:39:39"	""	""	"SEQ"	"DNA"	""	""
"0000286111"	"00284961"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286112"	"00284962"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286114"	"00284964"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286116"	"00284966"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286117"	"00284967"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286118"	"00284968"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286119"	"00284969"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286120"	"00284970"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286121"	"00284971"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286124"	"00284974"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286125"	"00284975"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286126"	"00284976"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286127"	"00284977"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286128"	"00284978"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286131"	"00284981"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286132"	"00284982"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286133"	"00284983"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286135"	"00284985"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286137"	"00284987"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286138"	"00284988"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286139"	"00284989"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286140"	"00284990"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286142"	"00284992"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286145"	"00284995"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286146"	"00284996"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286148"	"00284998"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286150"	"00285000"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286151"	"00285001"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286152"	"00285002"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286153"	"00285003"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286154"	"00285004"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286155"	"00285005"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286156"	"00285006"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286157"	"00285007"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286158"	"00285008"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286159"	"00285009"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286160"	"00285010"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000286162"	"00285012"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000316703"	"00315523"	"1"	"03808"	"03808"	"2009-11-18 15:30:08"	""	""	"?"	"DNA"	""	""
"0000316704"	"00315524"	"1"	"03808"	"03808"	"2009-11-18 15:30:08"	""	""	"?"	"DNA"	""	""
"0000316705"	"00315525"	"1"	"03808"	"03808"	"2009-11-18 15:30:08"	""	""	"?"	"DNA"	""	""
"0000316706"	"00315526"	"1"	"03808"	"03808"	"2009-11-18 15:30:08"	"03808"	"2010-02-04 15:01:36"	"DGGE;SSCA;SEQ"	"DNA"	""	""
"0000316707"	"00315527"	"1"	"03808"	"03808"	"2009-11-18 15:30:08"	"03808"	"2010-02-04 15:02:11"	"SSCA;SEQ"	"DNA"	""	""
"0000316708"	"00315528"	"1"	"03808"	"03808"	"2009-11-18 15:30:08"	""	""	"?"	"DNA"	""	""
"0000316709"	"00315529"	"1"	"03808"	"03808"	"2009-11-18 15:30:08"	""	""	"?"	"DNA"	""	""
"0000316710"	"00315530"	"1"	"03808"	"03808"	"2009-11-18 15:30:08"	"03808"	"2010-02-04 15:02:47"	"SEQ"	"DNA"	""	""
"0000316711"	"00315531"	"1"	"03808"	"03808"	"2009-11-18 15:30:08"	"03808"	"2010-02-04 15:03:16"	"SEQ"	"DNA"	""	""
"0000316712"	"00315532"	"1"	"03808"	"03808"	"2009-11-18 15:30:08"	"03808"	"2010-02-04 15:12:11"	"SSCA;SEQ"	"DNA"	""	""
"0000316713"	"00315533"	"1"	"03808"	"03808"	"2009-11-18 15:30:08"	"03808"	"2010-02-04 15:12:40"	"SEQ"	"DNA"	""	""
"0000316714"	"00315534"	"1"	"03808"	"03808"	"2009-11-18 15:30:08"	"03808"	"2010-02-04 15:13:01"	"SEQ"	"DNA"	""	""
"0000316715"	"00315535"	"1"	"03808"	"03808"	"2009-11-18 15:30:08"	"03808"	"2010-02-04 15:13:32"	"SSCA;SEQ"	"DNA"	""	""
"0000316716"	"00315536"	"1"	"03808"	"03808"	"2009-11-18 15:30:08"	"03808"	"2010-02-04 15:13:56"	"SEQ"	"DNA"	""	""
"0000316717"	"00315537"	"1"	"03808"	"03808"	"2009-11-18 15:30:08"	"03808"	"2010-02-04 15:16:55"	"DGGE;SEQ"	"DNA"	""	""
"0000316718"	"00315538"	"1"	"03808"	"03808"	"2009-11-18 15:30:08"	"03808"	"2010-02-04 15:15:00"	"SEQ"	"DNA"	""	""
"0000316719"	"00315539"	"1"	"03808"	"03808"	"2009-11-18 15:30:08"	"03808"	"2010-02-04 15:15:27"	"SEQ"	"DNA"	""	""
"0000316720"	"00315540"	"1"	"03808"	"03808"	"2009-11-18 15:30:08"	""	""	"?"	"DNA"	""	""
"0000316721"	"00315541"	"1"	"03808"	"03808"	"2009-11-18 15:30:08"	"03808"	"2010-02-04 15:17:35"	"SSCA;SEQ"	"DNA"	""	""
"0000316722"	"00315542"	"1"	"03808"	"03808"	"2009-11-18 15:30:08"	"03808"	"2010-02-04 15:18:07"	"SEQ"	"DNA"	""	""
"0000316723"	"00315543"	"1"	"03808"	"03808"	"2009-11-18 15:30:08"	"03808"	"2010-02-04 15:18:44"	"SEQ"	"DNA"	""	""
"0000316724"	"00315544"	"1"	"03808"	"03808"	"2009-11-18 15:30:08"	"03808"	"2010-02-04 15:19:07"	"SSCA;SEQ"	"DNA"	""	""
"0000316725"	"00315545"	"1"	"03808"	"03808"	"2009-11-18 15:30:08"	"03808"	"2010-02-04 15:19:54"	"SEQ"	"DNA"	""	""
"0000316726"	"00315546"	"1"	"03808"	"03808"	"2009-11-18 15:30:08"	"03808"	"2010-02-04 15:20:19"	"SEQ"	"DNA"	""	""
"0000316727"	"00315547"	"1"	"03808"	"03808"	"2009-11-18 15:30:08"	"03808"	"2010-02-04 15:20:46"	"SSCA;SEQ"	"DNA"	""	""
"0000316728"	"00315548"	"1"	"03808"	"03808"	"2009-11-18 15:30:08"	"03808"	"2013-12-18 17:45:05"	"PCRq"	"DNA"	""	""
"0000316729"	"00315549"	"1"	"03808"	"03808"	"2009-11-18 15:30:08"	"03808"	"2011-11-16 15:43:43"	"SEQ"	"DNA"	""	""
"0000316730"	"00315550"	"1"	"03808"	"03808"	"2009-11-18 15:30:08"	"03808"	"2010-02-04 15:24:17"	"SEQ"	"DNA"	""	""
"0000316731"	"00315551"	"1"	"03808"	"03808"	"2009-11-18 15:30:08"	"03808"	"2010-02-04 15:24:45"	"SEQ"	"DNA"	""	""
"0000316732"	"00315552"	"1"	"03808"	"03808"	"2013-12-18 17:45:20"	""	""	"microscope;arrayCGH"	"DNA"	"lymphocytes"	""
"0000316733"	"00315553"	"1"	"03808"	"03808"	"2013-12-18 17:45:20"	""	""	"microscope;arrayCGH"	"DNA"	"lymphocytes"	""
"0000316734"	"00315554"	"1"	"03808"	"03808"	"2013-12-18 17:45:20"	"03808"	"2013-12-18 17:47:37"	"FISH"	"DNA"	"lymphocytes"	""
"0000316735"	"00315555"	"1"	"03808"	"03808"	"2013-12-18 17:45:20"	"03808"	"2013-12-18 17:48:00"	"FISH"	"DNA"	"lymphocytes"	""
"0000316736"	"00315556"	"1"	"03808"	"03808"	"2013-12-18 17:45:20"	"03808"	"2013-12-18 17:49:03"	"FISH"	"DNA"	"lymphocytes"	""
"0000316737"	"00315557"	"1"	"03808"	"03808"	"2013-12-27 09:27:00"	"00006"	"2020-10-28 09:12:55"	"arrayCGH;SEQ"	"DNA"	""	""
"0000316738"	"00315558"	"1"	"03808"	"03808"	"2013-12-27 09:36:57"	"03808"	"2013-12-30 10:24:13"	"SEQ"	"DNA"	""	""
"0000363131"	"00361903"	"1"	"03219"	"03219"	"2021-04-12 06:45:15"	""	""	"SEQ-NG"	"DNA"	""	""
"0000412210"	"00410946"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"SEQ-NG;SEQ"	"DNA"	"Peripheral blood"	""
"0000412211"	"00410947"	"1"	"00000"	"00008"	"2022-05-31 18:45:49"	""	""	"SEQ;PCR"	"DNA"	"Peripheral blood"	""
"0000442673"	"00441187"	"1"	"00006"	"00006"	"2023-11-07 16:38:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000442999"	"00441513"	"1"	"00006"	"00006"	"2023-11-08 15:20:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000467140"	"00465491"	"1"	"00006"	"00006"	"2025-05-19 19:24:16"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"213-gene panel"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 77
"{{screeningid}}"	"{{geneid}}"
"0000089182"	"EDNRB"
"0000286111"	"EDNRB"
"0000286112"	"EDNRB"
"0000286114"	"EDNRB"
"0000286116"	"EDNRB"
"0000286117"	"EDNRB"
"0000286118"	"EDNRB"
"0000286119"	"EDNRB"
"0000286120"	"EDNRB"
"0000286121"	"EDNRB"
"0000286124"	"EDNRB"
"0000286125"	"EDNRB"
"0000286126"	"EDNRB"
"0000286127"	"EDNRB"
"0000286128"	"EDNRB"
"0000286131"	"EDNRB"
"0000286132"	"EDNRB"
"0000286133"	"EDNRB"
"0000286135"	"EDNRB"
"0000286137"	"EDNRB"
"0000286138"	"EDNRB"
"0000286139"	"EDNRB"
"0000286140"	"EDNRB"
"0000286142"	"EDNRB"
"0000286145"	"EDNRB"
"0000286146"	"EDNRB"
"0000286148"	"EDNRB"
"0000286150"	"EDNRB"
"0000286151"	"EDNRB"
"0000286152"	"EDNRB"
"0000286153"	"EDNRB"
"0000286154"	"EDNRB"
"0000286155"	"EDNRB"
"0000286156"	"EDNRB"
"0000286157"	"EDNRB"
"0000286158"	"EDNRB"
"0000286159"	"EDNRB"
"0000286160"	"EDNRB"
"0000286162"	"EDNRB"
"0000316703"	"EDNRB"
"0000316704"	"EDNRB"
"0000316705"	"EDNRB"
"0000316706"	"EDNRB"
"0000316707"	"EDNRB"
"0000316708"	"EDNRB"
"0000316709"	"EDNRB"
"0000316710"	"EDNRB"
"0000316711"	"EDNRB"
"0000316712"	"EDNRB"
"0000316713"	"EDNRB"
"0000316714"	"EDNRB"
"0000316715"	"EDNRB"
"0000316716"	"EDNRB"
"0000316717"	"EDNRB"
"0000316718"	"EDNRB"
"0000316719"	"EDNRB"
"0000316720"	"EDNRB"
"0000316721"	"EDNRB"
"0000316722"	"EDNRB"
"0000316723"	"EDNRB"
"0000316724"	"EDNRB"
"0000316725"	"EDNRB"
"0000316726"	"EDNRB"
"0000316727"	"EDNRB"
"0000316728"	"EDNRB"
"0000316729"	"EDNRB"
"0000316730"	"EDNRB"
"0000316731"	"EDNRB"
"0000316732"	"EDNRB"
"0000316733"	"EDNRB"
"0000316734"	"EDNRB"
"0000316735"	"EDNRB"
"0000316736"	"EDNRB"
"0000316737"	"EDNRB"
"0000316738"	"EDNRB"
"0000412210"	"GPR98"
"0000412211"	"GPR98"


## 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 = 130
"{{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}}"
"0000147096"	"0"	"70"	"13"	"78474655"	"78474655"	"subst"	"0"	"01741"	"EDNRB_000071"	"g.78474655C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.77900520C>T"	""	"likely pathogenic"	""
"0000248667"	"0"	"10"	"13"	"78477674"	"78477674"	"subst"	"0.995851"	"02325"	"EDNRB_000048"	"g.78477674A>G"	""	""	""	"EDNRB(NM_001201397.1):c.822T>C (p.S274=), EDNRB-AS1(NR_103853.1):n.1695-4153A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77903539A>G"	""	"benign"	""
"0000267764"	"0"	"10"	"13"	"78475313"	"78475313"	"subst"	"0.575844"	"02325"	"EDNRB_000038"	"g.78475313T>C"	""	""	""	"EDNRB(NM_001201397.1):c.1101A>G (p.L367=), EDNRB-AS1(NR_103853.1):n.1695-6514T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77901178T>C"	""	"benign"	""
"0000275905"	"0"	"30"	"13"	"78477314"	"78477314"	"subst"	"0.000854979"	"01943"	"EDNRB_000018"	"g.78477314C>A"	""	""	""	"EDNRB(NM_001201397.1):c.1048G>T (p.V350F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77903179C>A"	""	"likely benign"	""
"0000275906"	"0"	"30"	"13"	"78475259"	"78475259"	"subst"	"0"	"01943"	"EDNRB_000045"	"g.78475259T>C"	""	""	""	"EDNRB(NM_001201397.1):c.1155A>G (p.L385=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77901124T>C"	""	"likely benign"	""
"0000275907"	"0"	"30"	"13"	"78475230"	"78475230"	"subst"	"0.0102307"	"01943"	"EDNRB_000023"	"g.78475230C>T"	""	""	""	"EDNRB(NM_001201397.1):c.1184G>A (p.S395N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77901095C>T"	""	"likely benign"	""
"0000275908"	"0"	"30"	"13"	"78472425"	"78472425"	"subst"	"0.00206063"	"01943"	"EDNRB_000073"	"g.78472425G>C"	""	""	""	"EDNRB(NM_001201397.1):c.1509C>G (p.S503=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77898290G>C"	""	"likely benign"	""
"0000275909"	"0"	"30"	"13"	"78472416"	"78472416"	"subst"	"0"	"01943"	"EDNRB_000080"	"g.78472416T>C"	""	""	""	"EDNRB(NM_001201397.1):c.1518A>G (p.E506=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77898281T>C"	""	"likely benign"	""
"0000275910"	"0"	"30"	"13"	"78492734"	"78492734"	"subst"	"0.00100107"	"01943"	"EDNRB_000051"	"g.78492734C>T"	""	""	""	"EDNRB(NM_001122659.2):c.-26G>A (p.?), EDNRB(NM_001201397.1):c.245G>A (p.R82Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77918599C>T"	""	"likely benign"	""
"0000275911"	"0"	"50"	"13"	"78493653"	"78493653"	"subst"	"0"	"01943"	"EDNRB_000052"	"g.78493653G>T"	""	""	""	"EDNRB(NM_001201397.1):c.98C>A (p.P33H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77919518G>T"	""	"VUS"	""
"0000323443"	"0"	"30"	"13"	"78492462"	"78492462"	"subst"	"0"	"01804"	"EDNRB_000049"	"g.78492462G>C"	""	""	""	"EDNRB(NM_000115.3):c.247C>G (p.(Arg83Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77918327G>C"	""	"likely benign"	""
"0000323444"	"0"	"30"	"13"	"78492540"	"78492540"	"subst"	"0.00512258"	"01804"	"EDNRB_000004"	"g.78492540C>T"	""	""	""	"EDNRB(NM_000115.3):c.169G>A (p.(Gly57Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77918405C>T"	""	"likely benign"	""
"0000338770"	"0"	"90"	"13"	"78472470"	"78472470"	"subst"	"0"	"02327"	"EDNRB_000053"	"g.78472470C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77898335C>T"	""	"pathogenic"	""
"0000341285"	"0"	"50"	"13"	"78492288"	"78492288"	"subst"	"8.12117E-6"	"02327"	"EDNRB_000056"	"g.78492288C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77918153C>A"	""	"VUS"	""
"0000344012"	"0"	"30"	"13"	"78492249"	"78492249"	"subst"	"0"	"02327"	"EDNRB_000055"	"g.78492249C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77918114C>A"	""	"likely benign"	""
"0000349463"	"0"	"50"	"13"	"78474699"	"78474699"	"subst"	"8.16047E-6"	"02327"	"EDNRB_000054"	"g.78474699T>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77900564T>A"	""	"VUS"	""
"0000551078"	"0"	"30"	"13"	"78472407"	"78472407"	"subst"	"6.13382E-5"	"01943"	"EDNRB_000057"	"g.78472407C>T"	""	""	""	"EDNRB(NM_001201397.1):c.1527G>A (p.S509=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77898272C>T"	""	"likely benign"	""
"0000551079"	"0"	"50"	"13"	"78475226"	"78475226"	"subst"	"4.48131E-5"	"02327"	"EDNRB_000058"	"g.78475226G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77901091G>A"	""	"VUS"	""
"0000551081"	"0"	"10"	"13"	"78475313"	"78475313"	"subst"	"0.575844"	"02327"	"EDNRB_000038"	"g.78475313T>C"	""	""	""	"EDNRB(NM_001201397.1):c.1101A>G (p.L367=), EDNRB-AS1(NR_103853.1):n.1695-6514T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77901178T>C"	""	"benign"	""
"0000551082"	"0"	"30"	"13"	"78477314"	"78477314"	"subst"	"0.000162853"	"01804"	"EDNRB_000059"	"g.78477314C>T"	""	""	""	"EDNRB(NM_000115.3):c.778G>A (p.(Val260Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77903179C>T"	""	"likely benign"	""
"0000551083"	"0"	"90"	"13"	"78477425"	"78477425"	"del"	"0"	"01943"	"EDNRB_000060"	"g.78477425del"	""	""	""	"EDNRB(NM_001201397.1):c.937delG (p.V313Ffs*2)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77903290del"	""	"pathogenic"	""
"0000551084"	"0"	"30"	"13"	"78492713"	"78492713"	"subst"	"0"	"01943"	"EDNRB_000061"	"g.78492713C>T"	""	""	""	"EDNRB(NM_001201397.1):c.266G>A (p.S89N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77918578C>T"	""	"likely benign"	""
"0000551085"	"0"	"30"	"13"	"78492763"	"78492763"	"subst"	"1.9218E-5"	"01804"	"EDNRB_000062"	"g.78492763G>C"	""	""	""	"EDNRB(NM_001201397.1):c.220-4C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77918628G>C"	""	"likely benign"	""
"0000551086"	"0"	"50"	"13"	"78493705"	"78493705"	"del"	"8.40605E-6"	"02325"	"EDNRB_000063"	"g.78493705del"	""	""	""	"EDNRB(NM_001201397.1):c.46delC (p.R16Gfs*60)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77919570del"	""	"VUS"	""
"0000551087"	"0"	"50"	"13"	"78493733"	"78493733"	"subst"	"3.80039E-5"	"01943"	"EDNRB_000064"	"g.78493733A>T"	""	""	""	"EDNRB(NM_001201397.1):c.18T>A (p.C6*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77919598A>T"	""	"VUS"	""
"0000614680"	"0"	"30"	"13"	"78475253"	"78475253"	"subst"	"0"	"01943"	"EDNRB_000065"	"g.78475253G>A"	""	""	""	"EDNRB(NM_001201397.1):c.1161C>T (p.T387=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77901118G>A"	""	"likely benign"	""
"0000614681"	"0"	"50"	"13"	"78477406"	"78477406"	"subst"	"0"	"02327"	"EDNRB_000066"	"g.78477406G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77903271G>A"	""	"VUS"	""
"0000614682"	"0"	"30"	"13"	"78492461"	"78492461"	"subst"	"0"	"01943"	"EDNRB_000067"	"g.78492461C>T"	""	""	""	"EDNRB(NM_001201397.1):c.518G>A (p.R173H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77918326C>T"	""	"likely benign"	""
"0000614683"	"0"	"30"	"13"	"78493565"	"78493565"	"subst"	"4.19808E-6"	"01943"	"EDNRB_000068"	"g.78493565G>A"	""	""	""	"EDNRB(NM_001201397.1):c.186C>T (p.F62=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77919430G>A"	""	"likely benign"	""
"0000641853"	"1"	"77"	"13"	"78472364"	"78472364"	"subst"	"4.08904E-6"	"00004"	"EDNRB_000069"	"g.78472364G>A"	""	"{DB:DVD}, {PMID:Soufir 2005:16145050}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77898229G>A"	""	"likely pathogenic"	""
"0000641854"	"1"	"77"	"13"	"78472386"	"78472386"	"subst"	"2.04318E-5"	"00004"	"EDNRB_000070"	"g.78472386A>G"	""	"{DB:DVD}, {PMID:Garcia-Barceló 2004:14633923}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77898251A>G"	""	"likely pathogenic"	""
"0000641856"	"1"	"99"	"13"	"78474018"	"78474018"	"subst"	"0"	"00004"	"EDNRB_000072"	"g.78474018G>T"	""	"{DB:DVD}, {PMID:Tanaka 1998:9556633}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77899883G>T"	""	"pathogenic"	""
"0000641858"	"1"	"99"	"13"	"78474031"	"78474039"	"del"	"0"	"00004"	"EDNRB_000074"	"g.78474031_78474039del"	""	"{DB:DVD}, {PMID:Garcia-Barceló 2004:14633923}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77899896_77899904del"	""	"pathogenic"	""
"0000641859"	"1"	"99"	"13"	"78474040"	"78474040"	"subst"	"0"	"00004"	"EDNRB_000075"	"g.78474040G>A"	""	"{DB:DVD}, {PMID:Amiel 1996:8852660}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77899905G>A"	""	"pathogenic"	""
"0000641860"	"1"	"99"	"13"	"78474055"	"78474055"	"subst"	"0"	"00004"	"EDNRB_000076"	"g.78474055T>C"	""	"{DB:DVD}, {PMID:Doubaj 2015:25852447}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77899920T>C"	""	"pathogenic"	""
"0000641861"	"1"	"99"	"13"	"78474056"	"78474056"	"del"	"0"	"00004"	"EDNRB_000077"	"g.78474056del"	""	"{DB:DVD}, {PMID:Auricchio 1996:8852659}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77899921del"	""	"pathogenic"	""
"0000641862"	"1"	"99"	"13"	"78474066"	"78474066"	"subst"	"0"	"00004"	"EDNRB_000078"	"g.78474066C>T"	""	"{DB:DVD}, {PMID:Hofstra 1996:8630503}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77899931C>T"	""	"pathogenic"	""
"0000641863"	"1"	"99"	"13"	"78474666"	"78474666"	"subst"	"0"	"00004"	"EDNRB_000079"	"g.78474666C>A"	""	"{DB:DVD}, {PMID:Xiong 2015:25525159}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77900531C>A"	""	"pathogenic"	""
"0000641866"	"1"	"99"	"13"	"78474733"	"78474733"	"subst"	"0"	"00004"	"EDNRB_000024"	"g.78474733C>T"	""	"{DB:DVD}, {PMID:Xiong 2015:25525159}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77900598C>T"	""	"pathogenic"	""
"0000641867"	"1"	"77"	"13"	"78474785"	"78474785"	"subst"	"0"	"00004"	"EDNRB_000083"	"g.78474785C>G"	""	"{DB:DVD}, {PMID:Soufir 2007:17223014}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77900650C>G"	""	"likely pathogenic"	""
"0000641868"	"1"	"99"	"13"	"78474786"	"78474786"	"subst"	"1.63324E-5"	"00004"	"EDNRB_000084"	"g.78474786G>A"	""	"{DB:DVD}, {PMID:Amiel 1996:8852660}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77900651G>A"	""	"pathogenic"	""
"0000641869"	"1"	"77"	"13"	"78474803"	"78474803"	"subst"	"6.5376E-5"	"00004"	"EDNRB_000085"	"g.78474803A>G"	""	"{DB:DVD}, {PMID:Garcia-Barceló 2004:14633923}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77900668A>G"	""	"likely pathogenic"	""
"0000641870"	"1"	"99"	"13"	"78475216"	"78475216"	"subst"	"0"	"00004"	"EDNRB_000086"	"g.78475216C>T"	""	"{DB:DVD}, {PMID:Sakai 2000:10664228}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77901081C>T"	""	"pathogenic"	""
"0000641873"	"1"	"99"	"13"	"78475273"	"78475273"	"dup"	"0"	"00004"	"EDNRB_000089"	"g.78475273dup"	""	"{DB:DVD}, {PMID:Kusafuka 1996:8852658}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77901138dup"	""	"pathogenic"	""
"0000641874"	"1"	"99"	"13"	"78475316"	"78475316"	"subst"	"0"	"00004"	"EDNRB_000020"	"g.78475316C>A"	""	"{DB:DVD}, {PMID:Parisi 1993:20301612}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77901181C>A"	""	"pathogenic"	""
"0000641875"	"1"	"99"	"13"	"78475320"	"78475320"	"subst"	"0"	"00004"	"EDNRB_000091"	"g.78475320C>T"	""	"{DB:DVD}, {PMID:Kusafuka 1996:8852658}, {PMID:Xiong 2015:25525159}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77901185C>T"	""	"pathogenic"	""
"0000641877"	"1"	"99"	"13"	"78477289"	"78477289"	"subst"	"0"	"00004"	"EDNRB_000093"	"g.78477289A>G"	""	"{DB:DVD}, {PMID:Inoue 1998:9721987}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77903154A>G"	""	"pathogenic"	""
"0000641879"	"1"	"99"	"13"	"78477335"	"78477335"	"subst"	"0"	"00004"	"EDNRB_000017"	"g.78477335G>A"	""	"{DB:DVD}, {PMID:Xiong 2015:25525159}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77903200G>A"	""	"pathogenic"	""
"0000641880"	"1"	"77"	"13"	"78477355"	"78477356"	"delins"	"0"	"00004"	"EDNRB_000095"	"g.78477355_78477356delinsAA"	""	"{DB:DVD}, {PMID:Soufir 2005:16145050}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77903220_77903221delinsAA"	""	"likely pathogenic"	""
"0000641881"	"1"	"77"	"13"	"78477369"	"78477369"	"subst"	"8.13888E-6"	"00004"	"EDNRB_000096"	"g.78477369A>G"	""	"{DB:DVD}, {PMID:Garcia-Barceló 2004:14633923}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77903234A>G"	""	"likely pathogenic"	""
"0000641882"	"1"	"99"	"13"	"78477414"	"78477414"	"subst"	"0"	"00004"	"EDNRB_000097"	"g.78477414C>A"	""	"{DB:DVD}, {PMID:Svensson 1999:10334478}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77903279C>A"	""	"pathogenic"	""
"0000641884"	"1"	"99"	"13"	"78477491"	"78477491"	"subst"	"4.08047E-6"	"00004"	"EDNRB_000014"	"g.78477491G>A"	""	"{DB:DVD}, {PMID:Gross 1995:7778600}, {PMID:Xiong 2015:25525159}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77903356G>A"	""	"pathogenic"	""
"0000641887"	"1"	"99"	"13"	"78477670"	"78477670"	"subst"	"0"	"00004"	"EDNRB_000011"	"g.78477670C>T"	""	"{DB:DVD}, {PMID:Payne 2001:11565546}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77903535C>T"	""	"pathogenic"	""
"0000641888"	"1"	"99"	"13"	"78477673"	"78477673"	"subst"	"0.00012649"	"00004"	"EDNRB_000010"	"g.78477673C>T"	""	"{DB:DVD}, {PMID:Zhou 2006:16944573}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77903538C>T"	""	"pathogenic"	""
"0000641890"	"1"	"99"	"13"	"78477708"	"78477708"	"subst"	"0"	"00004"	"EDNRB_000105"	"g.78477708A>G"	""	"{DB:DVD}, {PMID:Lin 2008:18162831}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77903573A>G"	""	"pathogenic"	""
"0000641892"	"1"	"99"	"13"	"78492240"	"78492240"	"subst"	"8.1211E-6"	"00004"	"EDNRB_000107"	"g.78492240T>C"	""	"{DB:DVD}, {PMID:Lin 2008:18162831}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77918105T>C"	""	"pathogenic"	""
"0000641893"	"1"	"99"	"13"	"78492243"	"78492243"	"subst"	"0"	"00004"	"EDNRB_000108"	"g.78492243G>A"	""	"{DB:DVD}, {PMID:Sánchez-Mejías 2010:20009762}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77918108G>A"	""	"pathogenic"	""
"0000641894"	"1"	"99"	"13"	"78492312"	"78492312"	"subst"	"0"	"00004"	"EDNRB_000109"	"g.78492312G>A"	""	"{DB:DVD}, {PMID:Granström 2014:24726125}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77918177G>A"	""	"pathogenic"	""
"0000641895"	"1"	"99"	"13"	"78492313"	"78492313"	"subst"	"0"	"00004"	"EDNRB_000110"	"g.78492313C>T"	""	"{DB:DVD}, {PMID:Lin 2008:18162831}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77918178C>T"	""	"pathogenic"	""
"0000641896"	"1"	"99"	"13"	"78492366"	"78492366"	"subst"	"0"	"00004"	"EDNRB_000111"	"g.78492366C>T"	""	"{DB:DVD}, {PMID:Sánchez-Mejías 2010:20009762}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77918231C>T"	""	"pathogenic"	""
"0000641897"	"1"	"99"	"13"	"78492377"	"78492377"	"subst"	"4.06075E-6"	"00004"	"EDNRB_000112"	"g.78492377A>T"	""	"{DB:DVD}, {PMID:Sangkhathat 2006:17009072}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77918242A>T"	""	"pathogenic"	""
"0000641898"	"1"	"99"	"13"	"78492384"	"78492384"	"subst"	"0"	"00004"	"EDNRB_000113"	"g.78492384A>G"	""	"{DB:DVD}, {PMID:Tanaka 1998:9556633}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77918249A>G"	""	"pathogenic"	""
"0000641899"	"1"	"99"	"13"	"78492398"	"78492398"	"subst"	"2.84257E-5"	"00004"	"EDNRB_000114"	"g.78492398T>A"	""	"{DB:DVD}, {PMID:Miyagawa 2013:23967202}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77918263T>A"	""	"pathogenic"	""
"0000641900"	"1"	"99"	"13"	"78492441"	"78492441"	"subst"	"0"	"00004"	"EDNRB_000115"	"g.78492441A>G"	""	"{DB:DVD}, {PMID:Chen 2006:16618617}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77918306A>G"	""	"pathogenic"	""
"0000641901"	"1"	"99"	"13"	"78492542"	"78492542"	"subst"	"3.00378E-5"	"00004"	"EDNRB_000116"	"g.78492542T>G"	""	"{DB:DVD}, {PMID:Sánchez-Mejías 2010:20009762}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77918407T>G"	""	"pathogenic"	""
"0000641902"	"1"	"99"	"13"	"78492664"	"78492667"	"del"	"0"	"00004"	"EDNRB_000117"	"g.78492664_78492667del"	""	"{DB:DVD}, {PMID:Sánchez-Mejías 2010:20009762}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77918529_77918532del"	""	"pathogenic"	""
"0000641904"	"1"	"55"	"13"	"78493708"	"78493708"	"subst"	"0"	"00004"	"EDNRB_000119"	"g.78493708T>A"	""	"{DB:DVD}, {PMID:Parisi 1993:20301612}, {PMID:Sánchez-Mejías 2010:20009762}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.77919573T>A"	""	"VUS"	""
"0000698866"	"0"	"33"	"13"	"78492696"	"78492696"	"subst"	"4.35411E-5"	"03808"	"EDNRB_000001"	"g.78492696G>T"	"0.00-0.006"	""	""	""	""	"Germline"	""	"rs12720160"	"0"	""	""	"g.77918561G>T"	""	"likely benign"	""
"0000698867"	"0"	"33"	"13"	"78492689"	"78492689"	"subst"	"0"	"03808"	"EDNRB_000002"	"g.78492689A>T"	"0.00-0.005"	""	""	""	""	"Germline"	""	"rs5345"	"0"	""	""	"g.77918554A>T"	""	"likely benign"	""
"0000698868"	"0"	"33"	"13"	"78492660"	"78492660"	"subst"	"0.00123044"	"03808"	"EDNRB_000003"	"g.78492660G>A"	"0.00-0.005"	""	""	""	""	"Germline"	""	"rs5346"	"0"	""	""	"g.77918525G>A"	""	"likely benign"	""
"0000698869"	"0"	"73"	"13"	"78492540"	"78492540"	"subst"	"0.00512258"	"03808"	"EDNRB_000004"	"g.78492540C>T"	"0.00-0.08"	"{PMID:Amiel 1996:8852660}, {PMID:Hofstra 1996:8630503}"	""	"G57S"	"initialy referred as a disease-causing variant"	"Germline"	""	"rs1801710"	"0"	""	""	"g.77918405C>T"	""	"likely pathogenic"	""
"0000698870"	"0"	"55"	"13"	"78492531"	"78492531"	"subst"	"1.68927E-5"	"03808"	"EDNRB_000005"	"g.78492531C>T"	""	"{PMID:Zaahl 2003:12628594}"	""	"178G/A"	"found in 3 HD patients and one control"	"Unknown"	""	""	"0"	""	""	"g.77918396C>T"	""	"VUS"	""
"0000698871"	"0"	"33"	"13"	"78492482"	"78492482"	"subst"	"0.000130197"	"03808"	"EDNRB_000006"	"g.78492482C>A"	"0.00-0.006"	""	""	""	""	"Germline"	""	"rs2228271"	"0"	""	""	"g.77918347C>A"	""	"likely benign"	""
"0000698872"	"0"	"33"	"13"	"78492375"	"78492375"	"subst"	"0"	"03808"	"EDNRB_000007"	"g.78492375A>C"	"0.00-0.005"	""	""	""	""	"Germline"	""	"rs5347"	"0"	""	""	"g.77918240A>C"	""	"likely benign"	""
"0000698873"	"0"	"77"	"13"	"78477717"	"78477717"	"subst"	"0"	"03808"	"EDNRB_000008"	"g.78477717C>T"	""	"{PMID:Pingault 2010:20127975}"	""	"-"	""	"Germline"	""	""	"0"	""	""	"g.77903582C>T"	""	"likely pathogenic"	""
"0000698874"	"0"	"77"	"13"	"78477717"	"78477717"	"subst"	"0"	"03808"	"EDNRB_000008"	"g.78477717C>T"	""	"{PMID:Pingault 2010:20127975}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77903582C>T"	""	"likely pathogenic"	""
"0000698875"	"0"	"77"	"13"	"78474011"	"78474011"	"subst"	"0"	"03808"	"EDNRB_000029"	"g.78474011A>G"	""	"{PMID:Pingault 2010:20127975}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77899876A>G"	""	"likely pathogenic"	""
"0000698876"	"0"	"77"	"13"	"78477678"	"78477678"	"subst"	"0"	"03808"	"EDNRB_000009"	"g.78477678G>C"	""	"{PMID:Attie 1995:8634719}"	""	"A183G"	""	"Germline"	""	""	"0"	""	""	"g.77903543G>C"	""	"likely pathogenic"	""
"0000698877"	"0"	"55"	"13"	"78477673"	"78477673"	"subst"	"0.00012649"	"03808"	"EDNRB_000010"	"g.78477673C>T"	""	"{PMID:Garcia-Barcelo 2004:14633923}"	""	"V185M"	"found in HD patients and one control"	"Unknown"	""	""	"0"	""	""	"g.77903538C>T"	""	"VUS"	""
"0000698878"	"0"	"77"	"13"	"78477670"	"78477670"	"subst"	"0"	"03808"	"EDNRB_000011"	"g.78477670C>T"	""	"{PMID:Boardman 2001:11565556}"	""	"-"	"parents not tested; hemizygosity or disomy cannot be ruled out"	"Germline"	""	""	"0"	""	""	"g.77903535C>T"	""	"likely pathogenic"	""
"0000698879"	"0"	"77"	"13"	"78477639"	"78477639"	"subst"	"0"	"03808"	"EDNRB_000012"	"g.78477639C>T"	""	"{PMID:Sangkhathat 2005:16237557}"	""	"-"	""	"Germline"	""	""	"0"	""	""	"g.77903504C>T"	""	"likely pathogenic"	""
"0000698880"	"0"	"77"	"13"	"78477639"	"78477639"	"subst"	"0"	"03808"	"EDNRB_000013"	"g.78477639C>G"	""	"{PMID:Pingault 2010:20127975}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.77903504C>G"	""	"likely pathogenic"	""
"0000698881"	"0"	"99"	"13"	"78477491"	"78477491"	"subst"	"4.08047E-6"	"03808"	"EDNRB_000014"	"g.78477491G>A"	""	"{PMID:Verheij 2002:11891690}"	""	"R201X"	""	"Germline"	""	""	"0"	""	""	"g.77903356G>A"	""	"pathogenic"	""
"0000698882"	"0"	"99"	"13"	"78477491"	"78477491"	"subst"	"4.08047E-6"	"03808"	"EDNRB_000014"	"g.78477491G>A"	""	"{PMID:Pingault 2010:20127975}"	""	"-"	""	"Germline"	""	""	"0"	""	""	"g.77903356G>A"	""	"pathogenic"	""
"0000698883"	"21"	"77"	"13"	"78477487"	"78477487"	"subst"	"0"	"03808"	"EDNRB_000015"	"g.78477487G>T"	""	"{PMID:Pingault 2010:20127975}"	""	"-"	""	"Germline"	""	""	"0"	""	""	"g.77903352G>T"	""	"likely pathogenic"	""
"0000698884"	"0"	"33"	"13"	"78477361"	"78477361"	"subst"	"0.000809997"	"03808"	"EDNRB_000016"	"g.78477361G>A"	"0.00-0.005"	""	""	""	""	"Germline"	""	"rs5350"	"0"	""	""	"g.77903226G>A"	""	"likely benign"	""
"0000698885"	"0"	"99"	"13"	"78477335"	"78477335"	"subst"	"0"	"03808"	"EDNRB_000017"	"g.78477335G>A"	""	"{PMID:Syrris 1999:10528251}"	""	"Arg253→Stop"	""	"Germline"	""	""	"0"	""	""	"g.77903200G>A"	""	"pathogenic"	""
"0000698886"	"0"	"55"	"13"	"78477314"	"78477314"	"subst"	"0.000854979"	"03808"	"EDNRB_000018"	"g.78477314C>A"	""	"{PMID:Pingault 2010:20127975}"	""	"-"	""	"Germline"	""	""	"0"	""	""	"g.77903179C>A"	""	"VUS"	""
"0000698887"	"0"	"99"	"13"	"78474666"	"78474666"	"subst"	"0"	"03808"	"EDNRB_000027"	"g.78474666C>A"	""	"{PMID:Pingault 2010:20127975}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77900531C>A"	""	"pathogenic"	""
"0000698888"	"21"	"99"	"13"	"78475335"	"78475335"	"del"	"0"	"03808"	"EDNRB_000019"	"g.78475335del"	""	"{PMID:Pingault 2010:20127975}"	""	"809delA"	""	"Germline"	""	""	"0"	""	""	"g.77901201del"	""	"pathogenic"	""
"0000698889"	"0"	"77"	"13"	"78475316"	"78475316"	"subst"	"0"	"03808"	"EDNRB_000020"	"g.78475316C>A"	""	"{PMID:Puffenberger 1994:8001158}"	""	"W276C"	"incomplete penetrance"	"Germline"	""	""	"0"	""	""	"g.77901181C>A"	""	"likely pathogenic (!)"	""
"0000698890"	"0"	"77"	"13"	"78475270"	"78475270"	"subst"	"0"	"03808"	"EDNRB_000021"	"g.78475270A>G"	""	"{PMID:Pingault 2002:12189494}"	""	"F292L"	""	"Germline"	""	""	"0"	""	""	"g.77901135A>G"	""	"likely pathogenic"	""
"0000698891"	"0"	"77"	"13"	"78475254"	"78475254"	"subst"	"0"	"03808"	"EDNRB_000022"	"g.78475254G>T"	""	"{PMID:Pingault 2010:20127975}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77901119G>T"	""	"likely pathogenic"	""
"0000698892"	"0"	"73"	"13"	"78475230"	"78475230"	"subst"	"0.0102307"	"03808"	"EDNRB_000023"	"g.78475230C>T"	""	"{PMID:Auricchio 1996:8852659}"	""	"S305N"	"rsinitialy referred as a disease-causing variant"	"Germline"	""	"rs5352"	"0"	""	""	"g.77901095C>T"	""	"likely pathogenic"	""
"0000698893"	"11"	"99"	"13"	"78469616"	"78549664"	""	"0"	"03808"	"EDNRB_000030"	"g.(?_78469616)_(78549664_?)del"	""	"{PMID:Pingault 2010:20127975}"	""	"whole gene deletion"	""	"Germline"	""	""	"0"	""	""	"g.(?_77895481)_(77975529_?)del"	""	"pathogenic"	""
"0000698894"	"21"	"99"	"13"	"78474733"	"78474733"	"subst"	"0"	"03808"	"EDNRB_000024"	"g.78474733C>T"	""	"{PMID:Pingault 2010:20127975}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77900598C>T"	""	"pathogenic"	""
"0000698895"	"0"	"77"	"13"	"78474716"	"78474716"	"subst"	"0"	"03808"	"EDNRB_000025"	"g.78474716C>A"	""	"{PMID:Pingault 2010:20127975}, {PMID:Haddad 2011:21373256}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77900581C>A"	""	"likely pathogenic"	""
"0000698896"	"0"	"99"	"13"	"78474691"	"78474694"	"del"	"0"	"03808"	"EDNRB_000026"	"g.78474691_78474694del"	""	"{PMID:Pingault 2010:20127975}"	""	"1047_1050delTTAT"	""	"Germline"	""	""	"0"	""	""	"g.77900557_77900560del"	""	"pathogenic"	""
"0000698897"	"0"	"99"	"13"	"78474025"	"78474025"	"del"	"0"	"03808"	"EDNRB_000028"	"g.78474025del"	""	"{PMID:Pingault 2010:20127975}"	""	"1163delT"	""	"Germline"	""	""	"0"	""	""	"g.77899892del"	""	"pathogenic"	""
"0000698898"	"0"	"99"	"13"	"78469616"	"78549664"	""	"0"	"03808"	"EDNRB_000030"	"g.(?_78469616)_(78549664_?)del"	""	"{PMID:Van Camp 1995:7562965}"	""	"whole gene deletion"	"non-deleted allele not sequenced"	"De novo"	""	""	"0"	""	""	"g.(?_77895481)_(77975529_?)del"	""	"pathogenic"	""
"0000698899"	"0"	"99"	"13"	"78469616"	"78549664"	""	"0"	"03808"	"EDNRB_000030"	"g.(?_78469616)_(78549664_?)del"	""	"{PMID:Shanske 2001:11484199}"	""	"Whole gene deletion"	"non-deleted allele not sequenced"	"De novo"	""	""	"0"	""	""	"g.(?_77895481)_(77975529_?)del"	""	"pathogenic"	""
"0000698900"	"0"	"99"	"13"	"78469616"	"78549664"	""	"0"	"03808"	"EDNRB_000030"	"g.(?_78469616)_(78549664_?)del"	""	"{PMID:Tuysuz 2009:19764031}"	""	"Whole gene deletion"	"non-deleted allele not sequenced"	"De novo"	""	""	"0"	""	""	"g.(?_77895481)_(77975529_?)del"	""	"pathogenic"	""
"0000698901"	"0"	"99"	"13"	"78469616"	"78549664"	""	"0"	"03808"	"EDNRB_000030"	"g.(?_78469616)_(78549664_?)del"	""	"{PMID:Tuysuz 2009:19764031}}"	""	"Whole gene deletion"	"non-deleted allele not sequenced"	"De novo"	""	""	"0"	""	""	"g.(?_77895481)_(77975529_?)del"	""	"pathogenic"	""
"0000698902"	"0"	"99"	"13"	"78469616"	"78549664"	""	"0"	"03808"	"EDNRB_000030"	"g.(?_78469616)_(78549664_?)del"	""	"{PMID:Tuysuz 2009:19764031}}"	""	"Whole gene deletion"	"non-deleted allele not sequenced"	"De novo"	""	""	"0"	""	""	"g.(?_77895481)_(77975529_?)del"	""	"pathogenic"	""
"0000698903"	"21"	"57"	"13"	"78492708"	"78492708"	"subst"	"0"	"03808"	"EDNRB_000037"	"g.78492708T>C"	""	"{PMID:Cui 2013:23840513}"	""	"p.Met1?"	"incomplete penetrance; different initiation codon used in vitro but variant protein not localized to membrane; also has 45 kb de novo duplication DACH1"	"Germline"	""	""	"0"	""	""	"g.77918573T>C"	""	"VUS (!)"	""
"0000698904"	"1"	"77"	"13"	"78474737"	"78474737"	"subst"	"0"	"03808"	"EDNRB_000036"	"g.78474737C>G"	""	"{PMID:Jabeen 2012:21547364}"	""	"[1004G>C;1082T>C]"	""	"Germline"	""	""	"0"	""	""	"g.77900602C>G"	""	"likely pathogenic"	""
"0000698913"	"0"	"95"	"13"	"78472335"	"78472337"	""	"0"	"03812"	"EDNRB_000046"	"g.(78472335_78472337)?"	""	""	""	"T/- , X/Leu"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000698914"	"1"	"50"	"13"	"78474659"	"78474659"	"subst"	"0"	"03808"	"EDNRB_000050"	"g.78474659A>G"	""	"{PMID:Jabeen 2012:21547364}"	""	"[1004G>C;1082T>C]"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000698916"	"0"	"30"	"13"	"78477673"	"78477673"	"subst"	"0.00012649"	"03808"	"EDNRB_000010"	"g.78477673C>T"	""	"{PMID:Pingault 2010:20127975}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000724581"	"0"	"90"	"13"	"78477491"	"78477491"	"subst"	"4.08047E-6"	"02327"	"EDNRB_000014"	"g.78477491G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000724582"	"0"	"50"	"13"	"78477686"	"78477686"	"subst"	"2.04113E-5"	"01943"	"EDNRB_000120"	"g.78477686T>C"	""	""	""	"EDNRB(NM_000115.4):c.540A>G (p.I180M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000763566"	"11"	"90"	"13"	"78477317"	"78477317"	"del"	"0"	"03219"	"EDNRB_000121"	"g.78477317del"	""	""	""	"777delC"	""	"Germline"	""	""	"0"	""	""	"g.77903182del"	""	"pathogenic"	"ACMG"
"0000806210"	"0"	"30"	"13"	"78477360"	"78477360"	"subst"	"0.000240146"	"01943"	"EDNRB_000122"	"g.78477360C>T"	""	""	""	"EDNRB(NM_000115.4):c.732G>A (p.T244=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000853700"	"0"	"70"	"13"	"78474786"	"78474786"	"subst"	"1.63324E-5"	"02327"	"EDNRB_000084"	"g.78474786G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000853701"	"0"	"50"	"13"	"78492518"	"78492518"	"subst"	"1.65516E-5"	"01943"	"EDNRB_000123"	"g.78492518C>A"	""	""	""	"EDNRB(NM_000115.4):c.191G>T (p.R64L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000869470"	"3"	"90"	"13"	"78477673"	"78477673"	"subst"	"0.00012649"	"00000"	"EDNRB_000010"	"g.78477673C>T"	""	"{PMID:Wang 2017:29106856}"	""	"c.553G > A (p.V185M)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000869472"	"0"	"90"	"13"	"78477673"	"78477673"	"subst"	"0.00012649"	"00000"	"EDNRB_000010"	"g.78477673C>T"	""	"{PMID:Wang 2017:29106856}"	""	"c.553G > A (p.V185M)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000891569"	"0"	"50"	"13"	"78477418"	"78477418"	"subst"	"4.07266E-6"	"02327"	"EDNRB_000124"	"g.78477418A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000891570"	"0"	"50"	"13"	"78477694"	"78477694"	"subst"	"8.16533E-6"	"02327"	"EDNRB_000125"	"g.78477694G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000944000"	"3"	"90"	"13"	"78477673"	"78477673"	"subst"	"0.00012649"	"00006"	"EDNRB_000010"	"g.78477673C>T"	""	"{PMID:Richard 2019: 30303587}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.77903538C>T"	""	"pathogenic (recessive)"	""
"0000944456"	"0"	"70"	"13"	"78475267"	"78475267"	"subst"	"0"	"00006"	"EDNRB_000126"	"g.78475267A>T"	""	"{PMID:Boucher 2020:33229591}"	""	"NM_001201397:c.1147T>A"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.77901132A>T"	""	"likely pathogenic (dominant)"	""
"0001000637"	"0"	"50"	"13"	"78474049"	"78474049"	"subst"	"1.22526E-5"	"01804"	"EDNRB_000127"	"g.78474049C>G"	""	""	""	"EDNRB(NM_001201397.1):c.1409G>C (p.(Cys470Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001000638"	"0"	"50"	"13"	"78477370"	"78477370"	"subst"	"1.22102E-5"	"01804"	"EDNRB_000128"	"g.78477370T>G"	""	""	""	"EDNRB(NM_001201397.1):c.992A>C (p.(Asp331Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001000639"	"0"	"30"	"13"	"78492615"	"78492615"	"subst"	"1.51229E-5"	"01804"	"EDNRB_000129"	"g.78492615G>A"	""	""	""	"EDNRB(NM_001201397.1):c.364C>T (p.(Pro122Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001000640"	"0"	"50"	"13"	"78492729"	"78492729"	"subst"	"0"	"01804"	"EDNRB_000130"	"g.78492729G>A"	""	""	""	"EDNRB(NM_001122659.2):c.-21C>T (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001000641"	"0"	"30"	"13"	"78492734"	"78492734"	"subst"	"0.00100107"	"01804"	"EDNRB_000051"	"g.78492734C>T"	""	""	""	"EDNRB(NM_001122659.2):c.-26G>A (p.?), EDNRB(NM_001201397.1):c.245G>A (p.R82Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001000642"	"0"	"50"	"13"	"78493695"	"78493695"	"subst"	"1.2604E-5"	"01804"	"EDNRB_000131"	"g.78493695A>T"	""	""	""	"EDNRB(NM_001201397.1):c.56T>A (p.(Leu19Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001039746"	"0"	"50"	"13"	"78474776"	"78474776"	"subst"	"0"	"01804"	"EDNRB_000132"	"g.78474776G>C"	""	""	""	"EDNRB(NM_001122659.3):c.965C>G (p.(Ala322Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001044909"	"1"	"90"	"13"	"78477744"	"78477744"	"subst"	"0"	"00006"	"EDNRB_000133"	"g.78477744T>C"	"1/1291 cases hearing loss"	"{PMID:Wu 2019:31581539}"	""	"NM_001201397.1:754-2A>G"	"combination of alleles not reported"	"Germline"	""	""	"0"	""	""	"g.77903609T>C"	""	"pathogenic (dominant)"	""
"0001054693"	"0"	"50"	"13"	"78492395"	"78492395"	"subst"	"7.30947E-5"	"01804"	"EDNRB_000134"	"g.78492395G>A"	""	""	""	"EDNRB(NM_001122659.3):c.314C>T (p.(Thr105Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes EDNRB
## Count = 173
"{{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}}"
"0000147096"	"00006875"	"70"	"1085"	"1"	"1085"	"1"	"c.1085+1G>A"	"r.spl"	"p.?"	"6i"
"0000248667"	"00025878"	"10"	"552"	"0"	"552"	"0"	"c.552="	"r.(=)"	"p.(Ser184=)"	""
"0000248667"	"00006875"	"10"	"552"	"0"	"552"	"0"	"c.552="	"r.(=)"	"p.(Ser184=)"	"3"
"0000267764"	"00025878"	"10"	"831"	"0"	"831"	"0"	"c.831A>G"	"r.(?)"	"p.(Leu277=)"	""
"0000267764"	"00006875"	"10"	"831"	"0"	"831"	"0"	"c.831A>G"	"r.(?)"	"p.(Leu277=)"	"5"
"0000275905"	"00025878"	"30"	"778"	"0"	"778"	"0"	"c.778G>T"	"r.(?)"	"p.(Val260Phe)"	""
"0000275905"	"00006875"	"30"	"778"	"0"	"778"	"0"	"c.778G>T"	"r.(?)"	"p.(Val260Phe)"	"4"
"0000275906"	"00025878"	"30"	"885"	"0"	"885"	"0"	"c.885A>G"	"r.(?)"	"p.(Leu295=)"	""
"0000275906"	"00006875"	"30"	"885"	"0"	"885"	"0"	"c.885A>G"	"r.(?)"	"p.(Leu295=)"	"5"
"0000275907"	"00025878"	"30"	"914"	"0"	"914"	"0"	"c.914G>A"	"r.(?)"	"p.(Ser305Asn)"	""
"0000275907"	"00006875"	"30"	"914"	"0"	"914"	"0"	"c.914G>A"	"r.(?)"	"p.(Ser305Asn)"	"5"
"0000275908"	"00025878"	"30"	"1239"	"0"	"1239"	"0"	"c.1239C>G"	"r.(?)"	"p.(Ser413=)"	""
"0000275908"	"00006875"	"30"	"1239"	"0"	"1239"	"0"	"c.1239C>G"	"r.(?)"	"p.(Ser413=)"	"8"
"0000275909"	"00025878"	"30"	"1248"	"0"	"1248"	"0"	"c.1248A>G"	"r.(?)"	"p.(Glu416=)"	""
"0000275909"	"00006875"	"30"	"1248"	"0"	"1248"	"0"	"c.1248A>G"	"r.(?)"	"p.(Glu416=)"	"8"
"0000275910"	"00025878"	"30"	"-26"	"0"	"-26"	"0"	"c.-26G>A"	"r.(?)"	"p.(=)"	""
"0000275910"	"00006875"	"30"	"-26"	"0"	"-26"	"0"	"c.-26G>A"	"r.(?)"	"p.(=)"	"2"
"0000275911"	"00025878"	"50"	"-945"	"0"	"-945"	"0"	"c.-945C>A"	"r.(?)"	"p.(=)"	""
"0000275911"	"00006875"	"50"	"-51"	"-894"	"-51"	"-894"	"c.-51-894C>A"	"r.(=)"	"p.(=)"	"1i"
"0000323443"	"00025878"	"30"	"247"	"0"	"247"	"0"	"c.247C>G"	"r.(?)"	"p.(Arg83Gly)"	""
"0000323443"	"00006875"	"30"	"247"	"0"	"247"	"0"	"c.247C>G"	"r.(?)"	"p.(Arg83Gly)"	"2"
"0000323444"	"00025878"	"30"	"169"	"0"	"169"	"0"	"c.169G>A"	"r.(?)"	"p.(Gly57Ser)"	""
"0000323444"	"00006875"	"30"	"169"	"0"	"169"	"0"	"c.169G>A"	"r.(?)"	"p.(Gly57Ser)"	"2"
"0000338770"	"00025878"	"90"	"1195"	"-1"	"1195"	"-1"	"c.1195-1G>A"	"r.spl?"	"p.?"	""
"0000338770"	"00006875"	"90"	"1195"	"-1"	"1195"	"-1"	"c.1195-1G>A"	"r.spl?"	"p.?"	"7i"
"0000341285"	"00025878"	"50"	"421"	"0"	"421"	"0"	"c.421G>T"	"r.(?)"	"p.(Ala141Ser)"	""
"0000341285"	"00006875"	"50"	"421"	"0"	"421"	"0"	"c.421G>T"	"r.(?)"	"p.(Ala141Ser)"	"2"
"0000344012"	"00025878"	"30"	"460"	"0"	"460"	"0"	"c.460G>T"	"r.(?)"	"p.(Asp154Tyr)"	""
"0000344012"	"00006875"	"30"	"460"	"0"	"460"	"0"	"c.460G>T"	"r.(?)"	"p.(Asp154Tyr)"	"2"
"0000349463"	"00025878"	"50"	"1042"	"0"	"1042"	"0"	"c.1042A>T"	"r.(?)"	"p.(Thr348Ser)"	""
"0000349463"	"00006875"	"50"	"1042"	"0"	"1042"	"0"	"c.1042A>T"	"r.(?)"	"p.(Thr348Ser)"	"6"
"0000551078"	"00025878"	"30"	"1257"	"0"	"1257"	"0"	"c.1257G>A"	"r.(?)"	"p.(Ser419=)"	""
"0000551078"	"00006875"	"30"	"1257"	"0"	"1257"	"0"	"c.1257G>A"	"r.(?)"	"p.(Ser419=)"	"8"
"0000551079"	"00025878"	"50"	"918"	"0"	"918"	"0"	"c.918C>T"	"r.(?)"	"p.(Gly306=)"	""
"0000551079"	"00006875"	"50"	"918"	"0"	"918"	"0"	"c.918C>T"	"r.(?)"	"p.(Gly306=)"	"5"
"0000551081"	"00025878"	"10"	"831"	"0"	"831"	"0"	"c.831A>G"	"r.(?)"	"p.(Leu277=)"	""
"0000551081"	"00006875"	"10"	"831"	"0"	"831"	"0"	"c.831A>G"	"r.(?)"	"p.(Leu277=)"	"5"
"0000551082"	"00025878"	"30"	"778"	"0"	"778"	"0"	"c.778G>A"	"r.(?)"	"p.(Val260Ile)"	""
"0000551082"	"00006875"	"30"	"778"	"0"	"778"	"0"	"c.778G>A"	"r.(?)"	"p.(Val260Ile)"	"4"
"0000551083"	"00025878"	"90"	"667"	"0"	"667"	"0"	"c.667del"	"r.(?)"	"p.(Val223PhefsTer2)"	""
"0000551083"	"00006875"	"90"	"667"	"0"	"667"	"0"	"c.667del"	"r.(?)"	"p.(Val223PhefsTer2)"	"4"
"0000551084"	"00025878"	"30"	"-5"	"0"	"-5"	"0"	"c.-5G>A"	"r.(?)"	"p.(=)"	""
"0000551084"	"00006875"	"30"	"-5"	"0"	"-5"	"0"	"c.-5G>A"	"r.(?)"	"p.(=)"	"2"
"0000551085"	"00025878"	"30"	"-55"	"0"	"-55"	"0"	"c.-55C>G"	"r.(?)"	"p.(=)"	""
"0000551085"	"00006875"	"30"	"-51"	"-4"	"-51"	"-4"	"c.-51-4C>G"	"r.spl?"	"p.?"	"1i"
"0000551086"	"00025878"	"50"	"-997"	"0"	"-997"	"0"	"c.-997del"	"r.(?)"	"p.(=)"	""
"0000551086"	"00006875"	"50"	"-51"	"-946"	"-51"	"-946"	"c.-51-946del"	"r.(=)"	"p.(=)"	"1i"
"0000551087"	"00025878"	"50"	"-1025"	"0"	"-1025"	"0"	"c.-1025T>A"	"r.(?)"	"p.(=)"	""
"0000551087"	"00006875"	"50"	"-51"	"-974"	"-51"	"-974"	"c.-51-974T>A"	"r.(=)"	"p.(=)"	"1i"
"0000614680"	"00025878"	"30"	"891"	"0"	"891"	"0"	"c.891C>T"	"r.(?)"	"p.(Thr297=)"	""
"0000614680"	"00006875"	"30"	"891"	"0"	"891"	"0"	"c.891C>T"	"r.(?)"	"p.(Thr297=)"	"5"
"0000614681"	"00025878"	"50"	"686"	"0"	"686"	"0"	"c.686C>T"	"r.(?)"	"p.(Ser229Phe)"	""
"0000614681"	"00006875"	"50"	"686"	"0"	"686"	"0"	"c.686C>T"	"r.(?)"	"p.(Ser229Phe)"	"4"
"0000614682"	"00025878"	"30"	"248"	"0"	"248"	"0"	"c.248G>A"	"r.(?)"	"p.(Arg83His)"	""
"0000614682"	"00006875"	"30"	"248"	"0"	"248"	"0"	"c.248G>A"	"r.(?)"	"p.(Arg83His)"	"2"
"0000614683"	"00025878"	"30"	"-857"	"0"	"-857"	"0"	"c.-857C>T"	"r.(?)"	"p.(=)"	""
"0000614683"	"00006875"	"30"	"-51"	"-806"	"-51"	"-806"	"c.-51-806C>T"	"r.(=)"	"p.(=)"	"1i"
"0000641853"	"00006875"	"77"	"1300"	"0"	"1300"	"0"	"c.1300C>T"	"r.(?)"	"p.(Arg434Cys)"	"8"
"0000641854"	"00006875"	"77"	"1278"	"0"	"1278"	"0"	"c.1278T>C"	"r.(=)"	"p.(=)"	"8"
"0000641856"	"00006875"	"99"	"1170"	"0"	"1170"	"0"	"c.1170C>A"	"r.(?)"	"p.(Ser390Arg)"	"7"
"0000641858"	"00006875"	"99"	"1149"	"0"	"1157"	"0"	"c.1149_1157del"	"r.(?)"	"p.(Ile384_Leu386del)"	"7"
"0000641859"	"00006875"	"99"	"1148"	"0"	"1148"	"0"	"c.1148C>T"	"r.(?)"	"p.(Pro383Leu)"	"7"
"0000641860"	"00006875"	"99"	"1133"	"0"	"1133"	"0"	"c.1133A>G"	"r.(?)"	"p.(Asn378Ser)"	"7"
"0000641861"	"00006875"	"99"	"1133"	"0"	"1133"	"0"	"c.1133del"	"r.(?)"	"p.(Asn378Ilefs*12)"	"7"
"0000641862"	"00006875"	"99"	"1122"	"0"	"1122"	"0"	"c.1122G>A"	"r.(?)"	"p.(Met374Ile)"	"7"
"0000641863"	"00006875"	"99"	"1075"	"0"	"1075"	"0"	"c.1075G>T"	"r.(?)"	"p.(Glu359*)"	"6"
"0000641866"	"00006875"	"99"	"1008"	"0"	"1008"	"0"	"c.1008G>A"	"r.(?)"	"p.(Trp336*)"	"6"
"0000641867"	"00006875"	"77"	"956"	"0"	"956"	"0"	"c.956G>C"	"r.(?)"	"p.(Arg319Pro)"	"6"
"0000641868"	"00006875"	"99"	"955"	"0"	"955"	"0"	"c.955C>T"	"r.(?)"	"p.(Arg319Trp)"	"6"
"0000641869"	"00006875"	"77"	"952"	"-14"	"952"	"-14"	"c.952-14T>C"	"r.(=)"	"p.(=)"	"5i"
"0000641870"	"00006875"	"99"	"928"	"0"	"928"	"0"	"c.928G>A"	"r.(?)"	"p.(Ala310Thr)"	"5"
"0000641873"	"00006875"	"99"	"877"	"0"	"877"	"0"	"c.877dup"	"r.(?)"	"p.(Tyr293Leufs*7)"	"5"
"0000641874"	"00006875"	"99"	"828"	"0"	"828"	"0"	"c.828G>T"	"r.(?)"	"p.(Trp276Cys)"	"5"
"0000641875"	"00006875"	"99"	"824"	"0"	"824"	"0"	"c.824G>A"	"r.(?)"	"p.(Trp275*)"	"5"
"0000641877"	"00006875"	"99"	"801"	"2"	"801"	"2"	"c.801+2T>C"	"r.spl?"	"p.?"	"4i"
"0000641879"	"00006875"	"99"	"757"	"0"	"757"	"0"	"c.757C>T"	"r.(?)"	"p.(Arg253*)"	"4"
"0000641880"	"00006875"	"77"	"736"	"0"	"737"	"0"	"c.736_737delinsTT"	"r.(?)"	"p.(Asp246Phe)"	"4"
"0000641881"	"00006875"	"77"	"723"	"0"	"723"	"0"	"c.723T>C"	"r.(=)"	"p.(=)"	"4"
"0000641882"	"00006875"	"99"	"678"	"0"	"678"	"0"	"c.678G>T"	"r.(?)"	"p.(Trp226Cys)"	"4"
"0000641884"	"00006875"	"99"	"601"	"0"	"601"	"0"	"c.601C>T"	"r.(?)"	"p.(Arg201*)"	"4"
"0000641887"	"00006875"	"99"	"556"	"0"	"556"	"0"	"c.556G>A"	"r.(?)"	"p.(Gly186Arg)"	"3"
"0000641888"	"00006875"	"99"	"553"	"0"	"553"	"0"	"c.553G>A"	"r.(?)"	"p.(Val185Met)"	"3"
"0000641890"	"00006875"	"99"	"518"	"0"	"518"	"0"	"c.518T>C"	"r.(?)"	"p.(Met173Thr)"	"3"
"0000641892"	"00006875"	"99"	"469"	"0"	"469"	"0"	"c.469A>G"	"r.(?)"	"p.(Ile157Val)"	"2"
"0000641893"	"00006875"	"99"	"466"	"0"	"466"	"0"	"c.466C>T"	"r.(?)"	"p.(Pro156Ser)"	"2"
"0000641894"	"00006875"	"99"	"397"	"0"	"397"	"0"	"c.397C>T"	"r.(?)"	"p.(Arg133*)"	"2"
"0000641895"	"00006875"	"99"	"396"	"0"	"396"	"0"	"c.396G>A"	"r.(?)"	"p.(Met132Ile)"	"2"
"0000641896"	"00006875"	"99"	"343"	"0"	"343"	"0"	"c.343G>A"	"r.(?)"	"p.(Gly115Arg)"	"2"
"0000641897"	"00006875"	"99"	"332"	"0"	"332"	"0"	"c.332T>A"	"r.(?)"	"p.(Val111Glu)"	"2"
"0000641898"	"00006875"	"99"	"325"	"0"	"325"	"0"	"c.325T>C"	"r.(?)"	"p.(Cys109Arg)"	"2"
"0000641899"	"00006875"	"99"	"311"	"0"	"311"	"0"	"c.311A>T"	"r.(?)"	"p.(Asn104Ile)"	"2"
"0000641900"	"00006875"	"99"	"268"	"0"	"268"	"0"	"c.268T>C"	"r.(?)"	"p.(Cys90Arg)"	"2"
"0000641901"	"00006875"	"99"	"167"	"0"	"167"	"0"	"c.167A>C"	"r.(?)"	"p.(Lys56Thr)"	"2"
"0000641902"	"00006875"	"99"	"43"	"0"	"46"	"0"	"c.43_46del"	"r.(?)"	"p.(Leu15Phefs*30)"	"2"
"0000641904"	"00006875"	"55"	"-51"	"-949"	"-51"	"-949"	"c.-51-949A>T"	"r.(=)"	"p.(=)"	"1i"
"0000698866"	"00006875"	"33"	"13"	"0"	"13"	"0"	"c.13C>A"	"r.(?)"	"p.(Pro5Thr)"	"2"
"0000698867"	"00006875"	"33"	"20"	"0"	"20"	"0"	"c.20T>A"	"r.(?)"	"p.(Leu7Gln)"	"2"
"0000698868"	"00006875"	"33"	"49"	"0"	"49"	"0"	"c.49C>T"	"r.(?)"	"p.(Leu17Phe)"	"2"
"0000698869"	"00006875"	"73"	"169"	"0"	"169"	"0"	"c.169G>A"	"r.(?)"	"p.(Gly57Ser)"	"2"
"0000698870"	"00006875"	"55"	"178"	"0"	"178"	"0"	"c.178G>A"	"r.(?)"	"p.(Ala60Thr)"	"2"
"0000698871"	"00006875"	"33"	"227"	"0"	"227"	"0"	"c.227G>T"	"r.(?)"	"p.(Arg76Met)"	"2"
"0000698872"	"00006875"	"33"	"334"	"0"	"334"	"0"	"c.334T>G"	"r.(?)"	"p.(Phe112Val)"	"2"
"0000698873"	"00006875"	"77"	"509"	"0"	"509"	"0"	"c.509G>A"	"r.(?)"	"p.(Gly170Glu)"	"3"
"0000698874"	"00006875"	"77"	"509"	"0"	"509"	"0"	"c.509G>A"	"r.(?)"	"p.(Gly170Glu)"	"3"
"0000698875"	"00006875"	"77"	"1177"	"0"	"1177"	"0"	"c.1177T>C"	"r.(?)"	"p.(Phe393Leu)"	"7"
"0000698876"	"00006875"	"77"	"548"	"0"	"548"	"0"	"c.548C>G"	"r.(?)"	"p.(Ala183Gly)"	"3"
"0000698877"	"00006875"	"55"	"553"	"0"	"553"	"0"	"c.553G>A"	"r.(?)"	"p.(Val185Met)"	"3"
"0000698878"	"00006875"	"77"	"556"	"0"	"556"	"0"	"c.556G>A"	"r.(?)"	"p.(Gly186Arg)"	"3"
"0000698879"	"00006875"	"77"	"587"	"0"	"587"	"0"	"c.587G>A"	"r.(?)"	"p.(Ser196Asn)"	"3"
"0000698880"	"00006875"	"77"	"587"	"0"	"587"	"0"	"c.587G>C"	"r.(?)"	"p.(Ser196Thr)"	"3"
"0000698881"	"00006875"	"99"	"601"	"0"	"601"	"0"	"c.601C>T"	"r.(?)"	"p.(Arg201*)"	"4"
"0000698882"	"00006875"	"99"	"601"	"0"	"601"	"0"	"c.601C>T"	"r.(?)"	"p.(Arg201*)"	"4"
"0000698883"	"00006875"	"77"	"605"	"0"	"605"	"0"	"c.605C>A"	"r.(?)"	"p.(Ala202Asp)"	"4"
"0000698884"	"00006875"	"33"	"731"	"0"	"731"	"0"	"c.731C>T"	"r.(?)"	"p.(Thr244Met)"	"4"
"0000698885"	"00006875"	"99"	"757"	"0"	"757"	"0"	"c.757C>T"	"r.(?)"	"p.(Arg253*)"	"4"
"0000698886"	"00006875"	"55"	"778"	"0"	"778"	"0"	"c.778G>T"	"r.(?)"	"p.(Val260Phe)"	"4"
"0000698887"	"00006875"	"99"	"1075"	"0"	"1075"	"0"	"c.1075G>T"	"r.(?)"	"p.(Glu359*)"	"6"
"0000698888"	"00006875"	"99"	"809"	"0"	"809"	"0"	"c.809del"	"r.(?)"	"p.(Lys270Argfs*26)"	"5"
"0000698889"	"00006875"	"77"	"828"	"0"	"828"	"0"	"c.828G>T"	"r.(?)"	"p.(Trp276Cys)"	"5"
"0000698890"	"00006875"	"77"	"874"	"0"	"874"	"0"	"c.874T>C"	"r.(?)"	"p.(Phe292Leu)"	"5"
"0000698891"	"00006875"	"77"	"890"	"0"	"890"	"0"	"c.890C>A"	"r.(?)"	"p.(Thr297Asn)"	"5"
"0000698892"	"00006875"	"73"	"914"	"0"	"914"	"0"	"c.914G>A"	"r.(?)"	"p.(Ser305Asn)"	"5"
"0000698893"	"00006875"	"99"	"0"	"0"	"0"	"0"	"c.-234_*2719{0}"	"r.0"	"p.0"	"_1_8_"
"0000698894"	"00006875"	"99"	"1008"	"0"	"1008"	"0"	"c.1008G>A"	"r.(?)"	"p.(Trp336*)"	"6"
"0000698895"	"00006875"	"77"	"1025"	"0"	"1025"	"0"	"c.1025G>T"	"r.(?)"	"p.(Ser342Ile)"	"6"
"0000698896"	"00006875"	"99"	"1047"	"0"	"1050"	"0"	"c.1047_1050del"	"r.(?)"	"p.(Tyr350Ilefs*11)"	"6"
"0000698897"	"00006875"	"99"	"1163"	"0"	"1163"	"0"	"c.1163del"	"r.(?)"	"p.(Leu388Trpfs*2)"	"7"
"0000698898"	"00006875"	"99"	"0"	"0"	"0"	"0"	"c.-234_*2719{0}"	"r.0"	"p.0"	"_1_8_"
"0000698899"	"00006875"	"99"	"0"	"0"	"0"	"0"	"c.-234_*2719{0}"	"r.0"	"p.0"	"_1_8_"
"0000698900"	"00006875"	"99"	"0"	"0"	"0"	"0"	"c.-234_*2719{0}"	"r.0"	"p.0"	"_1_8_"
"0000698901"	"00006875"	"99"	"0"	"0"	"0"	"0"	"c.-234_*2719{0}"	"r.0"	"p.0"	"_1_8_"
"0000698902"	"00006875"	"99"	"0"	"0"	"0"	"0"	"c.-234_*2719{0}"	"r.0"	"p.0"	"_1_8_"
"0000698903"	"00006875"	"57"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.?"	"2"
"0000698904"	"00006875"	"77"	"1004"	"0"	"1004"	"0"	"c.1004G>C"	"r.(?)"	"p.(Cys335Ser)"	"6"
"0000698913"	"00006875"	"95"	"1327"	"0"	"1329"	"0"	"c.(1327_1329)?"	"r.(?)"	"p.(*443fs)"	"8"
"0000698914"	"00006875"	"50"	"1082"	"0"	"1082"	"0"	"c.1082T>C"	"r.(?)"	"p.(Leu361Ser)"	"6"
"0000698916"	"00006875"	"30"	"553"	"0"	"553"	"0"	"c.553G>A"	"r.(?)"	"p.(Val185Met)"	"3"
"0000724581"	"00025878"	"90"	"601"	"0"	"601"	"0"	"c.601C>T"	"r.(?)"	"p.(Arg201*)"	""
"0000724581"	"00006875"	"90"	"601"	"0"	"601"	"0"	"c.601C>T"	"r.(?)"	"p.(Arg201*)"	""
"0000724582"	"00025878"	"50"	"540"	"0"	"540"	"0"	"c.540A>G"	"r.(?)"	"p.(Ile180Met)"	""
"0000724582"	"00006875"	"50"	"540"	"0"	"540"	"0"	"c.540A>G"	"r.(?)"	"p.(Ile180Met)"	""
"0000763566"	"00006875"	"90"	"777"	"0"	"777"	"0"	"c.777delC"	"r.(?)"	"p.(Val260Phefs*36)"	""
"0000806210"	"00025878"	"30"	"732"	"0"	"732"	"0"	"c.732G>A"	"r.(?)"	"p.(Thr244=)"	""
"0000806210"	"00006875"	"30"	"732"	"0"	"732"	"0"	"c.732G>A"	"r.(?)"	"p.(Thr244=)"	""
"0000853700"	"00025878"	"70"	"955"	"0"	"955"	"0"	"c.955C>T"	"r.(?)"	"p.(Arg319Trp)"	""
"0000853700"	"00006875"	"70"	"955"	"0"	"955"	"0"	"c.955C>T"	"r.(?)"	"p.(Arg319Trp)"	""
"0000853701"	"00025878"	"50"	"191"	"0"	"191"	"0"	"c.191G>T"	"r.(?)"	"p.(Arg64Leu)"	""
"0000853701"	"00006875"	"50"	"191"	"0"	"191"	"0"	"c.191G>T"	"r.(?)"	"p.(Arg64Leu)"	""
"0000869470"	"00006875"	"90"	"553"	"0"	"553"	"0"	"c.553G>A"	"r.(?)"	"p.(Val185Met)"	"3"
"0000869472"	"00006875"	"90"	"553"	"0"	"553"	"0"	"c.553G>A"	"r.(?)"	"p.(Val185Met)"	"3"
"0000891569"	"00025878"	"50"	"674"	"0"	"674"	"0"	"c.674T>C"	"r.(?)"	"p.(Ile225Thr)"	""
"0000891569"	"00006875"	"50"	"674"	"0"	"674"	"0"	"c.674T>C"	"r.(?)"	"p.(Ile225Thr)"	""
"0000891570"	"00025878"	"50"	"532"	"0"	"532"	"0"	"c.532C>A"	"r.(?)"	"p.(Pro178Thr)"	""
"0000891570"	"00006875"	"50"	"532"	"0"	"532"	"0"	"c.532C>A"	"r.(?)"	"p.(Pro178Thr)"	""
"0000944000"	"00006875"	"90"	"553"	"0"	"553"	"0"	"c.553G>A"	"r.(?)"	"p.(Val185Met)"	""
"0000944456"	"00025878"	"70"	"877"	"0"	"877"	"0"	"c.877T>A"	"r.(?)"	"p.(Tyr293Asn)"	""
"0001000637"	"00025878"	"50"	"1139"	"0"	"1139"	"0"	"c.1139G>C"	"r.(?)"	"p.(Cys380Ser)"	""
"0001000637"	"00006875"	"50"	"1139"	"0"	"1139"	"0"	"c.1139G>C"	"r.(?)"	"p.(Cys380Ser)"	""
"0001000638"	"00025878"	"50"	"722"	"0"	"722"	"0"	"c.722A>C"	"r.(?)"	"p.(Asp241Ala)"	""
"0001000638"	"00006875"	"50"	"722"	"0"	"722"	"0"	"c.722A>C"	"r.(?)"	"p.(Asp241Ala)"	""
"0001000639"	"00025878"	"30"	"94"	"0"	"94"	"0"	"c.94C>T"	"r.(?)"	"p.(Pro32Ser)"	""
"0001000639"	"00006875"	"30"	"94"	"0"	"94"	"0"	"c.94C>T"	"r.(?)"	"p.(Pro32Ser)"	""
"0001000640"	"00025878"	"50"	"-21"	"0"	"-21"	"0"	"c.-21C>T"	"r.(?)"	"p.(=)"	""
"0001000640"	"00006875"	"50"	"-21"	"0"	"-21"	"0"	"c.-21C>T"	"r.(?)"	"p.(=)"	""
"0001000641"	"00025878"	"30"	"-26"	"0"	"-26"	"0"	"c.-26G>A"	"r.(?)"	"p.(=)"	""
"0001000641"	"00006875"	"30"	"-26"	"0"	"-26"	"0"	"c.-26G>A"	"r.(?)"	"p.(=)"	""
"0001000642"	"00025878"	"50"	"-987"	"0"	"-987"	"0"	"c.-987T>A"	"r.(?)"	"p.(=)"	""
"0001000642"	"00006875"	"50"	"-51"	"-936"	"-51"	"-936"	"c.-51-936T>A"	"r.(=)"	"p.(=)"	""
"0001039746"	"00025878"	"50"	"965"	"0"	"965"	"0"	"c.965C>G"	"r.(?)"	"p.(Ala322Gly)"	""
"0001039746"	"00006875"	"50"	"965"	"0"	"965"	"0"	"c.965C>G"	"r.(?)"	"p.(Ala322Gly)"	""
"0001044909"	"00025878"	"90"	"484"	"-2"	"484"	"-2"	"c.484-2A>G"	"r.spl"	"p.?"	""
"0001054693"	"00025878"	"50"	"314"	"0"	"314"	"0"	"c.314C>T"	"r.(?)"	"p.(Thr105Met)"	""
"0001054693"	"00006875"	"50"	"314"	"0"	"314"	"0"	"c.314C>T"	"r.(?)"	"p.(Thr105Met)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 86
"{{screeningid}}"	"{{variantid}}"
"0000089182"	"0000147096"
"0000286111"	"0000641853"
"0000286112"	"0000641854"
"0000286114"	"0000641856"
"0000286116"	"0000641858"
"0000286117"	"0000641859"
"0000286118"	"0000641860"
"0000286119"	"0000641861"
"0000286120"	"0000641862"
"0000286121"	"0000641863"
"0000286124"	"0000641866"
"0000286125"	"0000641867"
"0000286126"	"0000641868"
"0000286127"	"0000641869"
"0000286128"	"0000641870"
"0000286131"	"0000641873"
"0000286132"	"0000641874"
"0000286133"	"0000641875"
"0000286135"	"0000641877"
"0000286137"	"0000641879"
"0000286138"	"0000641880"
"0000286139"	"0000641881"
"0000286140"	"0000641882"
"0000286142"	"0000641884"
"0000286145"	"0000641887"
"0000286146"	"0000641888"
"0000286148"	"0000641890"
"0000286150"	"0000641892"
"0000286151"	"0000641893"
"0000286152"	"0000641894"
"0000286153"	"0000641895"
"0000286154"	"0000641896"
"0000286155"	"0000641897"
"0000286156"	"0000641898"
"0000286157"	"0000641899"
"0000286158"	"0000641900"
"0000286159"	"0000641901"
"0000286160"	"0000641902"
"0000286162"	"0000641904"
"0000316703"	"0000698866"
"0000316704"	"0000698867"
"0000316705"	"0000698868"
"0000316706"	"0000698869"
"0000316707"	"0000698870"
"0000316708"	"0000698871"
"0000316709"	"0000698872"
"0000316710"	"0000698873"
"0000316711"	"0000698874"
"0000316711"	"0000698875"
"0000316712"	"0000698876"
"0000316713"	"0000698877"
"0000316714"	"0000698878"
"0000316715"	"0000698879"
"0000316716"	"0000698880"
"0000316716"	"0000698916"
"0000316717"	"0000698881"
"0000316718"	"0000698882"
"0000316719"	"0000698883"
"0000316720"	"0000698884"
"0000316721"	"0000698885"
"0000316722"	"0000698886"
"0000316722"	"0000698887"
"0000316723"	"0000698888"
"0000316724"	"0000698889"
"0000316725"	"0000698890"
"0000316726"	"0000698891"
"0000316727"	"0000698892"
"0000316728"	"0000698893"
"0000316728"	"0000698894"
"0000316729"	"0000698895"
"0000316730"	"0000698896"
"0000316731"	"0000698897"
"0000316732"	"0000698898"
"0000316733"	"0000698899"
"0000316734"	"0000698900"
"0000316735"	"0000698901"
"0000316736"	"0000698902"
"0000316737"	"0000698903"
"0000316738"	"0000698904"
"0000316738"	"0000698914"
"0000363131"	"0000763566"
"0000412210"	"0000869470"
"0000412211"	"0000869472"
"0000442673"	"0000944000"
"0000442999"	"0000944456"
"0000467140"	"0001044909"