### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = HSD17B4)
# 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}}"
"HSD17B4"	"hydroxysteroid (17-beta) dehydrogenase 4"	"5"	"q2"	"unknown"	"NG_008182.1"	"UD_132118950636"	""	"http://www.LOVD.nl/HSD17B4"	""	"1"	"5213"	"3295"	"601860"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreemen tNo 200754 - the GEN2PHEN project."	""	"g"	"http://databases.lovd.nl/shared/refseq/HSD17B4_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00002"	"2011-04-05 00:00:00"	"00006"	"2015-12-18 07:05:21"	"00000"	"2025-05-05 21:14:00"


## 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}}"
"00024089"	"HSD17B4"	"transcript variant 2"	"001"	"NM_000414.3"	""	"NP_000405.1"	""	""	""	"-133"	"2552"	"2211"	"118788138"	"118878030"	"00006"	"2015-12-18 07:07:09"	"00006"	"2015-12-18 07:47:18"


## Diseases ## Do not remove or alter this header ##
## Count = 9
"{{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"	""	""
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00615"	"DBPD"	"protein deficiency, D-bifunctional (DBPD)"	"AR"	"261515"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"00616"	"PRLTS"	"Perrault syndrome"	""	""	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2025-01-06 10:12:39"
"05079"	"PBD"	"peroxisome biogenesis disorder (Zellweger syndrome)"	"PG"	""	""	""	""	"00006"	"2015-09-25 13:40:55"	"00006"	"2021-12-10 21:51:32"
"05103"	"deafness"	"deafness"	""	""	""	""	""	"00006"	"2015-12-02 12:30:46"	"00006"	"2017-08-25 19:47:08"
"05356"	"ataxia"	"ataxia"	""	""	""	""	""	"00006"	"2017-12-21 19:14:03"	""	""
"05966"	"PRLTS1"	"Perrault syndrome, type 1"	"AR"	"233400"	""	""	""	"00006"	"2021-08-19 09:04:40"	"00006"	"2025-01-06 10:11:54"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{geneid}}"	"{{diseaseid}}"
"HSD17B4"	"00139"
"HSD17B4"	"00615"
"HSD17B4"	"00616"
"HSD17B4"	"05966"


## Individuals ## Do not remove or alter this header ##
## Count = 73
"{{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}}"
"00000076"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00056385"	""	""	""	"1"	""	"01491"	"{PMID:Demain 2016:26970254}, {DOI:Demain 2016:10.1111/cge.12776}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"no"	"United Kingdom (Great Britain)"	""	"0"	""	""	"Brazilian"	""
"00073126"	""	""	""	"1"	""	"01400"	"ATX107"	""	"F"	""	"France"	""	"0"	""	""	""	""
"00087080"	""	""	""	"3"	""	"00006"	"{PMID:Ahmed 2015:25956234}, {DOI:Ahmed 2015:10.1016/j.jns.2015.04.038}"	"5-generation family, 3 affected sibs (F, 2M), unaffected heterozygous carrier parents"	"F;M"	""	"Saudi Arabia"	""	"0"	""	""	""	""
"00274164"	""	""	""	"2"	""	"00006"	"{PMID:Pronicka 2016:27290639}"	"2-generation family, 2 affected brothers"	"F"	""	"Poland"	""	"0"	""	""	""	"Pat30"
"00282832"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}"	""	""	""	""	""	"0"	""	""	""	""
"00282833"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}"	""	""	""	""	""	"0"	""	""	""	""
"00282834"	""	""	""	"1"	""	"00004"	"{PMID:van Grunsven 1999:9915948}, {PMID:Ferdinandusse 2006:16385454}, {PMID:van Grunsven 1998:9482850}"	""	""	""	""	""	"0"	""	""	""	""
"00282835"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}"	""	""	""	""	""	"0"	""	""	""	""
"00282836"	""	""	""	"1"	""	"00004"	"{PMID:van Grunsven 1999:9915948}"	""	""	""	""	""	"0"	""	""	""	""
"00282837"	""	""	""	"1"	""	"00004"	"{PMID:Sawyer 2014:24108619}"	""	""	""	""	""	"0"	""	""	""	""
"00282838"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}"	""	""	""	""	""	"0"	""	""	""	""
"00282839"	""	""	""	"1"	""	"00004"	"{PMID:McMillan 2012:23181892}, {PMID:Ferdinandusse 2006:16385454}"	""	""	""	""	""	"0"	""	""	""	""
"00282840"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}"	""	""	""	""	""	"0"	""	""	""	""
"00282841"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}"	""	""	""	""	""	"0"	""	""	""	""
"00282842"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}"	""	""	""	""	""	"0"	""	""	""	""
"00282843"	""	""	""	"1"	""	"00004"	"{PMID:Paton 2002:11810648}, {PMID:Xiong 2015:25525159}"	""	""	""	""	""	"0"	""	""	""	""
"00282844"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}"	""	""	""	""	""	"0"	""	""	""	""
"00282845"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}, {PMID:Xiong 2015:25525159}"	""	""	""	""	""	"0"	""	""	""	""
"00282846"	""	""	""	"1"	""	"00004"	"{PMID:Nakano 2001:11743515}, {PMID:Ferdinandusse 2006:16385454}, {PMID:Xiong 2015:25525159}"	""	""	""	""	""	"0"	""	""	""	""
"00282847"	""	""	""	"1"	""	"00004"	"{PMID:Richards 2015:25741868}"	""	""	""	""	""	"0"	""	""	""	""
"00282848"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}"	""	""	""	""	""	"0"	""	""	""	""
"00282849"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}, {PMID:Xiong 2015:25525159}"	""	""	""	""	""	"0"	""	""	""	""
"00282850"	""	""	""	"1"	""	"00004"	"{PMID:van Grunsven 1999:9915948}"	""	""	""	""	""	"0"	""	""	""	""
"00282851"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}"	""	""	""	""	""	"0"	""	""	""	""
"00282852"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}"	""	""	""	""	""	"0"	""	""	""	""
"00282853"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}"	""	""	""	""	""	"0"	""	""	""	""
"00282854"	""	""	""	"1"	""	"00004"	"{PMID:Richards 2015:25741868}"	""	""	""	""	""	"0"	""	""	""	""
"00282855"	""	""	""	"1"	""	"00004"	"{PMID:Möller 2001:11165012}"	""	""	""	""	""	"0"	""	""	""	""
"00282856"	""	""	""	"1"	""	"00004"	"{PMID:Lieber 2014:24602372}"	""	""	""	""	""	"0"	""	""	""	""
"00282857"	""	""	""	"1"	""	"00004"	"{PMID:Pierce 2010:20673864}, {PMID:Fiumara 2004:15216544}, {PMID:McCarthy 1985:4061497}"	""	""	""	""	""	"0"	""	""	""	""
"00282858"	""	""	""	"1"	""	"00004"	"{PMID:Möller 2001:11165012}"	""	""	""	""	""	"0"	""	""	""	""
"00282859"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}, {PMID:Xiong 2015:25525159}"	""	""	""	""	""	"0"	""	""	""	""
"00282860"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}"	""	""	""	""	""	"0"	""	""	""	""
"00282861"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}"	""	""	""	""	""	"0"	""	""	""	""
"00282862"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}"	""	""	""	""	""	"0"	""	""	""	""
"00282863"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}"	""	""	""	""	""	"0"	""	""	""	""
"00282864"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}"	""	""	""	""	""	"0"	""	""	""	""
"00282865"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}, {PMID:Xiong 2015:25525159}"	""	""	""	""	""	"0"	""	""	""	""
"00282866"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}"	""	""	""	""	""	"0"	""	""	""	""
"00282867"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}, {PMID:Xiong 2015:25525159}"	""	""	""	""	""	"0"	""	""	""	""
"00282868"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}, {PMID:Xiong 2015:25525159}"	""	""	""	""	""	"0"	""	""	""	""
"00282869"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}"	""	""	""	""	""	"0"	""	""	""	""
"00282870"	""	""	""	"1"	""	"00004"	"{PMID:van Grunsven 1999:9915948}"	""	""	""	""	""	"0"	""	""	""	""
"00282871"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}"	""	""	""	""	""	"0"	""	""	""	""
"00282872"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}"	""	""	""	""	""	"0"	""	""	""	""
"00282873"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}, {PMID:Tsuchida 2012:22864515}"	""	""	""	""	""	"0"	""	""	""	""
"00282874"	""	""	""	"1"	""	"00004"	""	""	""	""	""	""	"0"	""	""	""	""
"00282875"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}, {PMID:Tsuchida 2012:22864515}"	""	""	""	""	""	"0"	""	""	""	""
"00282876"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}, {PMID:Tsuchida 2012:22864515}"	""	""	""	""	""	"0"	""	""	""	""
"00282877"	""	""	""	"1"	""	"00004"	"{PMID:van Grunsven 1999:10400999}, {PMID:Tsuchida 2012:22864515}"	""	""	""	""	""	"0"	""	""	""	""
"00282878"	""	""	""	"1"	""	"00004"	"{PMID:van Grunsven 1999:10400999}, {PMID:Ferdinandusse 2006:16385454}, {PMID:Tsuchida 2012:22864515}"	""	""	""	""	""	"0"	""	""	""	""
"00282879"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}, {PMID:Tsuchida 2012:22864515}"	""	""	""	""	""	"0"	""	""	""	""
"00282880"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}, {PMID:Tsuchida 2012:22864515}"	""	""	""	""	""	"0"	""	""	""	""
"00282881"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}, {PMID:Tsuchida 2012:22864515}"	""	""	""	""	""	"0"	""	""	""	""
"00282882"	""	""	""	"1"	""	"00004"	"{PMID:Sawyer 2014:24108619}"	""	""	""	""	""	"0"	""	""	""	""
"00282883"	""	""	""	"1"	""	"00004"	"{PMID:Lines 2014:24553428}"	""	""	""	""	""	"0"	""	""	""	""
"00282884"	""	""	""	"1"	""	"00004"	"{PMID:Shaheen 2011:20681997}"	""	""	""	""	""	"0"	""	""	""	""
"00282885"	""	""	""	"1"	""	"00004"	"{PMID:McMillan 2012:23181892}, {PMID:Ferdinandusse 2006:16385454}, {PMID:Tsuchida 2012:22864515}"	""	""	""	""	""	"0"	""	""	""	""
"00282886"	""	""	""	"1"	""	"00004"	"{PMID:Mizumoto 2012:22507161}"	""	""	""	""	""	"0"	""	""	""	""
"00282887"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}, {PMID:Tsuchida 2012:22864515}"	""	""	""	""	""	"0"	""	""	""	""
"00282888"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}, {PMID:Tsuchida 2012:22864515}"	""	""	""	""	""	"0"	""	""	""	""
"00282889"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}, {PMID:Tsuchida 2012:22864515}"	""	""	""	""	""	"0"	""	""	""	""
"00282890"	""	""	""	"1"	""	"00004"	"{PMID:Lines 2014:24553428}, {PMID:Sawyer 2014:24108619}"	""	""	""	""	""	"0"	""	""	""	""
"00282891"	""	""	""	"1"	""	"00004"	"{PMID:Pierce 2010:20673864}, {PMID:Xiong 2015:25525159}"	""	""	""	""	""	"0"	""	""	""	""
"00282892"	""	""	""	"1"	""	"00004"	"{PMID:Mizumoto 2012:22507161}"	""	""	""	""	""	"0"	""	""	""	""
"00282893"	""	""	""	"1"	""	"00004"	"{PMID:Ferdinandusse 2006:16385454}, {PMID:Xiong 2015:25525159}"	""	""	""	""	""	"0"	""	""	""	""
"00282894"	""	""	""	"1"	""	"00004"	"{PMID:Shaheen 2011:20681997}"	""	""	""	""	""	"0"	""	""	""	""
"00293704"	""	""	""	"5"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00361690"	""	""	""	"1"	""	"00006"	"{PMID:Anazi 2017:27431290}"	"simplex case"	"F"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"14DG2154"
"00398058"	""	""	""	"1"	""	"00435"	""	""	"F"	"yes"	"Egypt"	""	"0"	""	""	"Egyptian"	""
"00419452"	""	""	""	"1"	""	"04400"	""	""	"M"	""	""	""	""	""	""	""	""
"00427982"	""	""	""	"1"	""	"00006"	"{PMID:Bournazos 2022:34906502}"	"family, 1 affected"	""	""	"Australia"	""	"0"	""	""	""	"A050"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 70
"{{individualid}}"	"{{diseaseid}}"
"00056385"	"00616"
"00073126"	"00616"
"00087080"	"00616"
"00274164"	"00198"
"00282832"	"00615"
"00282833"	"00615"
"00282834"	"00615"
"00282835"	"00615"
"00282836"	"00615"
"00282837"	"00615"
"00282838"	"00615"
"00282839"	"00615"
"00282840"	"00615"
"00282841"	"00615"
"00282842"	"00615"
"00282843"	"00615"
"00282844"	"00198"
"00282845"	"00615"
"00282846"	"00615"
"00282848"	"00615"
"00282849"	"00615"
"00282850"	"00615"
"00282851"	"00615"
"00282852"	"00615"
"00282853"	"00615"
"00282855"	"00615"
"00282856"	"00615"
"00282857"	"00616"
"00282858"	"00615"
"00282859"	"00615"
"00282860"	"00615"
"00282861"	"00615"
"00282862"	"00615"
"00282863"	"00615"
"00282864"	"00615"
"00282865"	"00615"
"00282866"	"00615"
"00282867"	"00615"
"00282868"	"00615"
"00282869"	"00615"
"00282870"	"00615"
"00282871"	"00615"
"00282872"	"00615"
"00282873"	"00615"
"00282874"	"00615"
"00282875"	"00615"
"00282876"	"00615"
"00282877"	"00615"
"00282878"	"00615"
"00282879"	"00615"
"00282880"	"00615"
"00282881"	"00615"
"00282882"	"00615"
"00282883"	"05103"
"00282884"	"05079"
"00282885"	"00615"
"00282886"	"00615"
"00282887"	"00615"
"00282888"	"00615"
"00282889"	"00615"
"00282890"	"00615"
"00282891"	"00616"
"00282892"	"00615"
"00282893"	"00615"
"00282894"	"05079"
"00293704"	"00198"
"00361690"	"00139"
"00398058"	"05356"
"00419452"	"00000"
"00427982"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00615, 00616, 05079, 05103, 05356, 05966
## Count = 68
"{{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}}"
"0000043004"	"00616"	"00056385"	"01491"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000053282"	"00616"	"00073126"	"01400"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000066680"	"00616"	"00087080"	"00006"	"Familial, autosomal recessive"	""	"see paper; profound hearing loss, brain atrophy, lower limb spasticity in early childhood, ..."	""	""	""	""	""	""	""	""	""	""	""
"0000209109"	"00198"	"00274164"	"00006"	"Familial, autosomal recessive"	""	"deceased; neonatal onset; mitochondrial disease criteria score 2; muscle biopsy"	"0d"	""	""	""	""	""	""	""	""	"expected mitochondrial disorder"	""
"0000216651"	"00198"	"00282844"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Bifunctional peroxisomal enzyme deficiency"	""
"0000217797"	"00615"	"00282832"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217798"	"00615"	"00282833"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217799"	"00615"	"00282834"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217800"	"00615"	"00282835"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217801"	"00615"	"00282836"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217802"	"00615"	"00282837"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217803"	"00615"	"00282838"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217804"	"00615"	"00282839"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217805"	"00615"	"00282840"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217806"	"00615"	"00282841"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217807"	"00615"	"00282842"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217808"	"00615"	"00282843"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217809"	"00615"	"00282845"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217810"	"00615"	"00282846"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217811"	"00615"	"00282848"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217812"	"00615"	"00282849"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217813"	"00615"	"00282850"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217814"	"00615"	"00282851"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217815"	"00615"	"00282852"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217816"	"00615"	"00282853"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217817"	"00615"	"00282855"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217818"	"00615"	"00282856"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency with male infertility"	""
"0000217819"	"00615"	"00282858"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217820"	"00615"	"00282859"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217821"	"00615"	"00282860"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217822"	"00615"	"00282861"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217823"	"00615"	"00282862"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217824"	"00615"	"00282863"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217825"	"00615"	"00282864"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217826"	"00615"	"00282865"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217827"	"00615"	"00282866"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217828"	"00615"	"00282867"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217829"	"00615"	"00282868"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217830"	"00615"	"00282869"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217831"	"00615"	"00282870"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217832"	"00615"	"00282871"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217833"	"00615"	"00282872"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217834"	"00615"	"00282873"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217835"	"00615"	"00282874"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217836"	"00615"	"00282875"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217837"	"00615"	"00282876"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217838"	"00615"	"00282877"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217839"	"00615"	"00282878"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217840"	"00615"	"00282879"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217841"	"00615"	"00282880"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217842"	"00615"	"00282881"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217843"	"00615"	"00282882"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217844"	"00615"	"00282885"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217845"	"00615"	"00282886"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217846"	"00615"	"00282887"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217847"	"00615"	"00282888"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217848"	"00615"	"00282889"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217849"	"00615"	"00282890"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217850"	"00615"	"00282892"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217851"	"00615"	"00282893"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"D-bifunctional protein deficiency"	""
"0000217857"	"00616"	"00282857"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Perrault syndrome"	""
"0000217858"	"00616"	"00282891"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Perrault syndrome"	""
"0000218063"	"05079"	"00282884"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"peroxisome biogenesis disorder"	""
"0000218064"	"05079"	"00282894"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"peroxisome biogenesis disorder"	""
"0000218425"	"05103"	"00282883"	"00008"	"Familial, autosomal recessive"	""	"gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance"	""	""	""	""	""	""	""	""	"type 81"	"deafness, autosomal recessive, perrault syndrome 3"	""
"0000257095"	"00139"	"00361690"	"00006"	"Familial, autosomal recessive"	"2y"	"syndromic; global developmental delay, elevated VLCFA, hypotonia, seizures"	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000291168"	"05356"	"00398058"	"00435"	"Familial, autosomal recessive"	"29y"	"A 29 year-old female presented for evaluation of progressive gait disorder started at the age of 10 years which intensified when vision was excluded. She developed intention tremors at the age of 23 years, numbness in upper and lower extremities of stroking and glove distribution at the age of 25 years and dysarthria at the age of 26 years. She had primary amenorrhea and gynecological evaluation confirmed the absence of the uterus and adnexa (ovarian agenesis) but normal secondary sexual characteristics. She was the product of consanguineous of two neurologically healthy parents. She had healthy and fertile sisters and brothers.  Neurological examination revealed, mild dysarthria (staccato speech), gaze-evoked nystagmus, moderate upper and lower extremities dysmetria, moderate gait ataxia (ambulant and walked unassisted), brisk deep tendon jerks but absent ankle tendon jerks, She had bilateral pes cavus and hammer toes. Brain MRI showed cerebellar volume loss. Nerve conduction studies revealed symmetrically reduced nerve conduction velocities of motor median, ulnar, peroneal and tibial nerves; absent electrical response of sensory median, sensory ulnar and sural nerves; markedly reduced amplitudes of motor nerves of the upper and lower extremities indicating demyelinating and axonal sensorimotor neuropathy. Plantar responses were flexor, average intelligence.  Pure tone audiometry was normal."	"10y"	""	"Ataxia"	""	""	""	""	""	"17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) gene mutation"	"Autosomal recessive cerebellar ataxia"	""
"0000318928"	"00198"	"00427982"	"00006"	"Familial, autosomal recessive"	"6y"	""	""	""	""	""	""	""	""	""	"Perrault syndrome 1"	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 74
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000076"	"00000076"	"1"	"00004"	""	"2012-05-11 13:19:02"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000056342"	"00056385"	"1"	"01491"	"01491"	"2015-12-17 12:14:08"	""	""	"SEQ-NG"	"DNA"	""	""
"0000056343"	"00056385"	"1"	"01491"	"01491"	"2015-12-17 12:15:06"	""	""	"SEQ"	"DNA"	""	""
"0000073284"	"00073126"	"1"	"01400"	"01400"	"2016-06-07 17:51:59"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000087217"	"00087080"	"1"	"00006"	"00006"	"2016-11-10 11:41:59"	"00006"	"2016-11-10 11:46:33"	"SEQ;SEQ-NG"	"DNA"	""	""
"0000275319"	"00274164"	"1"	"00006"	"00006"	"2019-12-24 17:05:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000283982"	"00282832"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283983"	"00282833"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283984"	"00282834"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283985"	"00282835"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283986"	"00282836"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283987"	"00282837"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283988"	"00282838"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283989"	"00282839"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283990"	"00282840"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283991"	"00282841"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283992"	"00282842"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283993"	"00282843"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283994"	"00282844"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283995"	"00282845"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283996"	"00282846"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283997"	"00282847"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283998"	"00282848"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283999"	"00282849"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284000"	"00282850"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284001"	"00282851"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284002"	"00282852"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284003"	"00282853"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284004"	"00282854"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284005"	"00282855"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284006"	"00282856"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284007"	"00282857"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284008"	"00282858"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284009"	"00282859"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284010"	"00282860"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284011"	"00282861"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284012"	"00282862"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284013"	"00282863"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284014"	"00282864"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284015"	"00282865"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284016"	"00282866"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284017"	"00282867"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284018"	"00282868"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284019"	"00282869"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284020"	"00282870"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284021"	"00282871"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284022"	"00282872"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284023"	"00282873"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284024"	"00282874"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284025"	"00282875"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284026"	"00282876"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284027"	"00282877"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284028"	"00282878"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284029"	"00282879"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284030"	"00282880"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284031"	"00282881"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284032"	"00282882"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284033"	"00282883"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284034"	"00282884"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284035"	"00282885"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284036"	"00282886"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284037"	"00282887"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284038"	"00282888"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284039"	"00282889"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284040"	"00282890"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284041"	"00282891"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284042"	"00282892"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284043"	"00282893"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284044"	"00282894"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000294872"	"00293704"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000362918"	"00361690"	"1"	"00006"	"00006"	"2021-04-07 19:07:03"	""	""	"SEQ-NG"	"DNA"	""	"758-gene panel"
"0000399301"	"00398058"	"1"	"00435"	"00435"	"2021-12-30 20:42:12"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000420755"	"00419452"	"1"	"04400"	"04400"	"2022-10-20 11:17:44"	""	""	"SEQ-NG-I"	"DNA"	"fibroblasts"	"WES"
"0000429395"	"00427982"	"1"	"00006"	"00006"	"2022-12-19 13:11:26"	""	""	"RT-PCR;SEQ;SEQ-NG-RNA"	"DNA;RNA"	"EBV transformed lymphocytes"	"singleton WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 86
"{{screeningid}}"	"{{geneid}}"
"0000000076"	"ATP7B"
"0000000076"	"BCKDHA"
"0000000076"	"FKRP"
"0000000076"	"GAA"
"0000000076"	"GLB1"
"0000000076"	"HSD17B4"
"0000000076"	"IGHMBP2"
"0000000076"	"MEFV"
"0000000076"	"NHLRC1"
"0000000076"	"NPHS1"
"0000000076"	"PMM2"
"0000000076"	"POMGNT1"
"0000000076"	"PPT1"
"0000000076"	"SERPINA1"
"0000000076"	"SLC26A2"
"0000056343"	"HSD17B4"
"0000073284"	"HSD17B4"
"0000087217"	"CLPP"
"0000087217"	"HSD17B4"
"0000275319"	"HSD17B4"
"0000283982"	"HSD17B4"
"0000283983"	"HSD17B4"
"0000283984"	"HSD17B4"
"0000283985"	"HSD17B4"
"0000283986"	"HSD17B4"
"0000283987"	"HSD17B4"
"0000283988"	"HSD17B4"
"0000283989"	"HSD17B4"
"0000283990"	"HSD17B4"
"0000283991"	"HSD17B4"
"0000283992"	"HSD17B4"
"0000283993"	"HSD17B4"
"0000283994"	"HSD17B4"
"0000283995"	"HSD17B4"
"0000283996"	"HSD17B4"
"0000283997"	"HSD17B4"
"0000283998"	"HSD17B4"
"0000283999"	"HSD17B4"
"0000284000"	"HSD17B4"
"0000284001"	"HSD17B4"
"0000284002"	"HSD17B4"
"0000284003"	"HSD17B4"
"0000284004"	"HSD17B4"
"0000284005"	"HSD17B4"
"0000284006"	"HSD17B4"
"0000284007"	"HSD17B4"
"0000284008"	"HSD17B4"
"0000284009"	"HSD17B4"
"0000284010"	"HSD17B4"
"0000284011"	"HSD17B4"
"0000284012"	"HSD17B4"
"0000284013"	"HSD17B4"
"0000284014"	"HSD17B4"
"0000284015"	"HSD17B4"
"0000284016"	"HSD17B4"
"0000284017"	"HSD17B4"
"0000284018"	"HSD17B4"
"0000284019"	"HSD17B4"
"0000284020"	"HSD17B4"
"0000284021"	"HSD17B4"
"0000284022"	"HSD17B4"
"0000284023"	"HSD17B4"
"0000284024"	"HSD17B4"
"0000284025"	"HSD17B4"
"0000284026"	"HSD17B4"
"0000284027"	"HSD17B4"
"0000284028"	"HSD17B4"
"0000284029"	"HSD17B4"
"0000284030"	"HSD17B4"
"0000284031"	"HSD17B4"
"0000284032"	"HSD17B4"
"0000284033"	"HSD17B4"
"0000284034"	"HSD17B4"
"0000284035"	"HSD17B4"
"0000284036"	"HSD17B4"
"0000284037"	"HSD17B4"
"0000284038"	"HSD17B4"
"0000284039"	"HSD17B4"
"0000284040"	"HSD17B4"
"0000284041"	"HSD17B4"
"0000284042"	"HSD17B4"
"0000284043"	"HSD17B4"
"0000284044"	"HSD17B4"
"0000362918"	"HSD17B4"
"0000399301"	"HSD17B4"
"0000420755"	"HSD17B4"


## 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 = 128
"{{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}}"
"0000001047"	"0"	"50"	"5"	"118829596"	"118829596"	"subst"	"0"	"00002"	"HSD17B4_000001"	"g.118829596A>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.119493901A>T"	""	"VUS"	""
"0000086582"	"21"	"90"	"5"	"118788316"	"118788316"	"subst"	"0.000204195"	"01491"	"HSD17B4_000004"	"g.118788316G>A"	""	"{PMID:Demain 2016:26970254}, {DOI:Demain 2016:10.1111/cge.12776}"	""	""	""	"Germline"	""	"rs137853096"	"0"	""	""	"g.119452621G>A"	""	"pathogenic"	""
"0000086583"	"11"	"70"	"5"	"118810119"	"118810119"	"subst"	"0"	"01491"	"HSD17B4_000003"	"g.118810119G>T"	""	"{PMID:Demain 2016:26970254}, {DOI:Demain 2016:10.1111/cge.12776}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.119474424G>T"	""	"likely pathogenic"	""
"0000116911"	"0"	"90"	"5"	"118829515"	"118829515"	"subst"	"8.14604E-6"	"01400"	"HSD17B4_000006"	"g.118829515C>T"	""	""	""	""	"Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000116912"	"11"	"90"	"5"	"118835171"	"118835171"	"subst"	"0"	"01400"	"HSD17B4_000005"	"g.118835171G>A"	""	""	""	""	"Variant Error [EMISMATCH/EREF]: This transcript variant does not match the reference sequence. Please fix this entry and then remove this message."	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000139994"	"11"	"10"	"5"	"118811533"	"118811533"	"subst"	"0.451426"	"00006"	"HSD17B4_000007"	"g.118811533G>A"	""	"{PMID:Ahmed 2015:25956234}, {DOI:Ahmed 2015:10.1016/j.jns.2015.04.038}"	""	"NM_001199291:c.392G>A (Arg131His)"	""	"Germline"	""	"rs25640"	"0"	""	""	"g.119475838G>A"	""	"benign"	""
"0000139995"	"11"	"10"	"5"	"118861713"	"118861713"	"subst"	"0.418497"	"00006"	"HSD17B4_000008"	"g.118861713A>G"	""	"{PMID:Ahmed 2015:25956234}, {DOI:Ahmed 2015:10.1016/j.jns.2015.04.038}"	""	"NM_001199291:c.1750A>G (Ile584Val)"	""	"Germline"	""	"rs11205"	"0"	""	""	"g.119526018A>G"	""	"benign"	""
"0000248799"	"0"	"10"	"5"	"118861713"	"118861713"	"subst"	"0.418497"	"02325"	"HSD17B4_000008"	"g.118861713A>G"	""	""	""	"HSD17B4(NM_001199291.3):c.1750A>G (p.I584V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119526018A>G"	""	"benign"	""
"0000249669"	"0"	"90"	"5"	"118844871"	"118844871"	"subst"	"2.03079E-5"	"02325"	"HSD17B4_000014"	"g.118844871A>T"	""	""	""	"HSD17B4(NM_000414.4):c.1369A>T (p.N457Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119509176A>T"	""	"pathogenic"	""
"0000256012"	"0"	"50"	"5"	"118814559"	"118814559"	"subst"	"0"	"01943"	"HSD17B4_000010"	"g.118814559A>G"	""	""	""	"HSD17B4(NM_001199291.2):c.540A>G (p.I180M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119478864A>G"	""	"VUS"	""
"0000281422"	"0"	"10"	"5"	"118845139"	"118845139"	"subst"	"0"	"02325"	"HSD17B4_000015"	"g.118845139G>A"	""	""	""	"HSD17B4(NM_001199291.3):c.1512+200G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119509444G>A"	""	"benign"	""
"0000281423"	"0"	"30"	"5"	"118850709"	"118850709"	"subst"	"0.0033571"	"02325"	"HSD17B4_000016"	"g.118850709G>A"	""	""	""	"HSD17B4(NM_001199291.2):c.1546G>A (p.A516T), HSD17B4(NM_001199291.3):c.1546G>A (p.A516T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119515014G>A"	""	"likely benign"	""
"0000281424"	"0"	"10"	"5"	"118811533"	"118811533"	"subst"	"0.451426"	"02325"	"HSD17B4_000007"	"g.118811533G>A"	""	""	""	"HSD17B4(NM_001199291.3):c.392G>A (p.R131H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119475838G>A"	""	"benign"	""
"0000281425"	"0"	"90"	"5"	"118788316"	"118788316"	"subst"	"0.000204195"	"02325"	"HSD17B4_000004"	"g.118788316G>A"	""	""	""	"HSD17B4(NM_000414.3):c.46G>A (p.G16S), HSD17B4(NM_000414.4):c.46G>A (p.G16S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119452621G>A"	""	"pathogenic"	""
"0000283432"	"0"	"70"	"5"	"118788316"	"118788316"	"subst"	"0.000204195"	"02329"	"HSD17B4_000004"	"g.118788316G>A"	""	""	""	"HSD17B4(NM_000414.3):c.46G>A (p.G16S), HSD17B4(NM_000414.4):c.46G>A (p.G16S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119452621G>A"	""	"likely pathogenic"	""
"0000289210"	"0"	"10"	"5"	"118835098"	"118835098"	"subst"	"0.000829687"	"01943"	"HSD17B4_000012"	"g.118835098G>A"	""	""	""	"HSD17B4(NM_001199291.2):c.1134G>A (p.A378=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119499403G>A"	""	"benign"	""
"0000289211"	"0"	"30"	"5"	"118837728"	"118837728"	"subst"	"0.00117581"	"01943"	"HSD17B4_000013"	"g.118837728T>C"	""	""	""	"HSD17B4(NM_001199291.2):c.1285-8T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119502033T>C"	""	"likely benign"	""
"0000289212"	"0"	"50"	"5"	"118862906"	"118862906"	"subst"	"8.54882E-5"	"01943"	"HSD17B4_000018"	"g.118862906C>G"	""	""	""	"HSD17B4(NM_001199291.2):c.1834C>G (p.Q612E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119527211C>G"	""	"VUS"	""
"0000289213"	"0"	"50"	"5"	"118813135"	"118813135"	"subst"	"0.000101638"	"01943"	"HSD17B4_000009"	"g.118813135C>T"	""	""	""	"HSD17B4(NM_001199291.2):c.448C>T (p.R150W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119477440C>T"	""	"VUS"	""
"0000289214"	"0"	"90"	"5"	"118788316"	"118788316"	"subst"	"0.000204195"	"01943"	"HSD17B4_000004"	"g.118788316G>A"	""	""	""	"HSD17B4(NM_000414.3):c.46G>A (p.G16S), HSD17B4(NM_000414.4):c.46G>A (p.G16S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119452621G>A"	""	"pathogenic"	""
"0000289215"	"0"	"30"	"5"	"118829559"	"118829559"	"subst"	"0"	"01943"	"HSD17B4_000011"	"g.118829559C>T"	""	""	""	"HSD17B4(NM_001199291.2):c.861C>T (p.H287=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119493864C>T"	""	"likely benign"	""
"0000330488"	"0"	"50"	"5"	"118829515"	"118829515"	"subst"	"8.14604E-6"	"01804"	"HSD17B4_000006"	"g.118829515C>T"	""	""	""	"HSD17B4(NM_000414.3):c.742C>T (p.(Arg248Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119493820C>T"	""	"VUS"	""
"0000330490"	"0"	"50"	"5"	"118861606"	"118861606"	"subst"	"0"	"01804"	"HSD17B4_000017"	"g.118861606T>C"	""	""	""	"HSD17B4(NM_000414.3):c.1574-6T>C (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119525911T>C"	""	"VUS"	""
"0000341851"	"0"	"10"	"5"	"118811533"	"118811533"	"subst"	"0.451426"	"02327"	"HSD17B4_000007"	"g.118811533G>A"	""	""	""	"HSD17B4(NM_001199291.3):c.392G>A (p.R131H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119475838G>A"	""	"benign"	""
"0000350657"	"0"	"70"	"5"	"118810101"	"118810101"	"subst"	"0"	"02327"	"HSD17B4_000019"	"g.118810101G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.119474406G>T"	""	"likely pathogenic"	""
"0000523881"	"0"	"90"	"5"	"118788316"	"118788316"	"subst"	"0.000204195"	"02327"	"HSD17B4_000004"	"g.118788316G>A"	""	""	""	"HSD17B4(NM_000414.3):c.46G>A (p.G16S), HSD17B4(NM_000414.4):c.46G>A (p.G16S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119452621G>A"	""	"pathogenic"	""
"0000523882"	"0"	"50"	"5"	"118788515"	"118788515"	"subst"	"2.39992E-5"	"01943"	"HSD17B4_000020"	"g.118788515A>G"	""	""	""	"HSD17B4(NM_001199291.2):c.67A>G (p.R23G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119452820A>G"	""	"VUS"	""
"0000523883"	"0"	"50"	"5"	"118814660"	"118814660"	"subst"	"2.44208E-5"	"01943"	"HSD17B4_000021"	"g.118814660G>C"	""	""	""	"HSD17B4(NM_001199291.2):c.641G>C (p.C214S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119478965G>C"	""	"VUS"	""
"0000523884"	"0"	"10"	"5"	"118824930"	"118824930"	"subst"	"0.000764302"	"01943"	"HSD17B4_000022"	"g.118824930C>G"	""	""	""	"HSD17B4(NM_001199291.2):c.741C>G (p.V247=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119489235C>G"	""	"benign"	""
"0000523885"	"0"	"50"	"5"	"118832325"	"118832325"	"subst"	"4.06266E-6"	"01943"	"HSD17B4_000023"	"g.118832325C>T"	""	""	""	"HSD17B4(NM_001199291.2):c.1031C>T (p.T344I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119496630C>T"	""	"VUS"	""
"0000523887"	"0"	"50"	"5"	"118842568"	"118842568"	"subst"	"5.70037E-5"	"01943"	"HSD17B4_000025"	"g.118842568A>G"	""	""	""	"HSD17B4(NM_001199291.2):c.1392A>G (p.V464=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119506873A>G"	""	"VUS"	""
"0000523888"	"0"	"30"	"5"	"118850709"	"118850709"	"subst"	"0.0033571"	"01943"	"HSD17B4_000016"	"g.118850709G>A"	""	""	""	"HSD17B4(NM_001199291.2):c.1546G>A (p.A516T), HSD17B4(NM_001199291.3):c.1546G>A (p.A516T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119515014G>A"	""	"likely benign"	""
"0000523890"	"0"	"70"	"5"	"118862828"	"118862828"	"subst"	"0"	"02327"	"HSD17B4_000026"	"g.118862828G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119527133G>C"	""	"likely pathogenic"	""
"0000523891"	"0"	"30"	"5"	"118865581"	"118865581"	"subst"	"0"	"01804"	"HSD17B4_000027"	"g.118865581C>T"	""	""	""	"HSD17B4(NM_000414.3):c.1768-8C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119529886C>T"	""	"likely benign"	""
"0000523892"	"0"	"50"	"5"	"118865590"	"118865590"	"subst"	"4.0814E-6"	"01804"	"HSD17B4_000028"	"g.118865590T>A"	""	""	""	"HSD17B4(NM_000414.4):c.1769T>A (p.(Val590Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119529895T>A"	""	"VUS"	""
"0000523893"	"0"	"50"	"5"	"118865632"	"118865632"	"subst"	"4.0712E-6"	"01943"	"HSD17B4_000029"	"g.118865632A>C"	""	""	""	"HSD17B4(NM_001199291.2):c.1886A>C (p.D629A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119529937A>C"	""	"VUS"	""
"0000609404"	"0"	"50"	"5"	"118788492"	"118788492"	"subst"	"7.63056E-6"	"01943"	"HSD17B4_000030"	"g.118788492C>A"	""	""	""	"HSD17B4(NM_001199291.2):c.44C>A (p.P15Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119452797C>A"	""	"VUS"	""
"0000609405"	"0"	"30"	"5"	"118835238"	"118835238"	"subst"	"0.000126426"	"01943"	"HSD17B4_000032"	"g.118835238A>G"	""	""	""	"HSD17B4(NM_001199291.2):c.1274A>G (p.N425S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119499543A>G"	""	"likely benign"	""
"0000609406"	"0"	"50"	"5"	"118844919"	"118844919"	"subst"	"0.000105602"	"01943"	"HSD17B4_000034"	"g.118844919C>T"	""	""	""	"HSD17B4(NM_001199291.2):c.1492C>T (p.R498W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119509224C>T"	""	"VUS"	""
"0000609407"	"0"	"50"	"5"	"118862901"	"118862901"	"subst"	"4.06967E-6"	"02325"	"HSD17B4_000035"	"g.118862901A>G"	""	""	""	"HSD17B4(NM_001199291.3):c.1829A>G (p.H610R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119527206A>G"	""	"VUS"	""
"0000621450"	"0"	"30"	"5"	"118835033"	"118835033"	"subst"	"6.10188E-5"	"01943"	"HSD17B4_000031"	"g.118835033C>T"	""	""	""	"HSD17B4(NM_001199291.2):c.1069C>T (p.L357F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119499338C>T"	""	"likely benign"	""
"0000621451"	"0"	"50"	"5"	"118844863"	"118844863"	"subst"	"4.06204E-6"	"01943"	"HSD17B4_000033"	"g.118844863T>C"	""	""	""	"HSD17B4(NM_000414.4):c.1361T>C (p.I454T), HSD17B4(NM_001199291.2):c.1436T>C (p.I479T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119509168T>C"	""	"VUS"	""
"0000629283"	"1"	"90"	"5"	"118788316"	"118788316"	"subst"	"0.000204195"	"00006"	"HSD17B4_000004"	"g.118788316G>A"	"1/113 cases"	"{PMID:Pronicka 2016:27290639}"	""	""	"moderate genotype/phenotype correlation"	"Germline"	""	""	"0"	""	""	"g.119452621G>A"	""	"pathogenic"	""
"0000629343"	"2"	"90"	"5"	"118813129"	"118813129"	"subst"	"0"	"00006"	"HSD17B4_000036"	"g.118813129C>T"	"1/113 cases"	"{PMID:Pronicka 2016:27290639}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.119477434C>T"	""	"pathogenic"	""
"0000639724"	"1"	"99"	"5"	"118788313"	"118788313"	"subst"	"0"	"00004"	"HSD17B4_000037"	"g.118788313A>G"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119452618A>G"	""	"pathogenic"	""
"0000639725"	"1"	"99"	"5"	"118788315"	"118788315"	"del"	"0"	"00004"	"HSD17B4_000038"	"g.118788315del"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119452620del"	""	"pathogenic"	""
"0000639726"	"1"	"99"	"5"	"118788316"	"118788316"	"subst"	"0.000204195"	"00004"	"HSD17B4_000004"	"g.118788316G>A"	""	"{DB:DVD}, {PMID:van Grunsven 1999:9915948}, {PMID:Ferdinandusse 2006:16385454}, {PMID:van Grunsven 1998:9482850}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119452621G>A"	""	"pathogenic"	""
"0000639727"	"1"	"99"	"5"	"118788320"	"118788320"	"subst"	"0"	"00004"	"HSD17B4_000039"	"g.118788320C>T"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119452625C>T"	""	"pathogenic"	""
"0000639728"	"1"	"99"	"5"	"118792014"	"118792014"	"subst"	"0"	"00004"	"HSD17B4_000040"	"g.118792014G>T"	""	"{DB:DVD}, {PMID:van Grunsven 1999:9915948}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119456319G>T"	""	"pathogenic"	""
"0000639729"	"1"	"99"	"5"	"118792022"	"118792022"	"subst"	"0"	"00004"	"HSD17B4_000041"	"g.118792022C>T"	""	"{DB:DVD}, {PMID:Sawyer 2014:24108619}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119456327C>T"	""	"pathogenic"	""
"0000639730"	"1"	"99"	"5"	"118792027"	"118792027"	"subst"	"4.06128E-6"	"00004"	"HSD17B4_000042"	"g.118792027G>C"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119456332G>C"	""	"pathogenic"	""
"0000639731"	"1"	"99"	"5"	"118792052"	"118792052"	"subst"	"8.12262E-6"	"00004"	"HSD17B4_000043"	"g.118792052C>T"	""	"{DB:DVD}, {PMID:McMillan 2012:23181892}, {PMID:Ferdinandusse 2006:16385454}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119456357C>T"	""	"pathogenic"	""
"0000639732"	"1"	"99"	"5"	"118809620"	"118809620"	"del"	"0"	"00004"	"HSD17B4_000044"	"g.118809620del"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119473925del"	""	"pathogenic"	""
"0000639733"	"1"	"99"	"5"	"118809706"	"118809706"	"subst"	"0"	"00004"	"HSD17B4_000045"	"g.118809706C>A"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119474011C>A"	""	"pathogenic"	""
"0000639734"	"1"	"99"	"5"	"118810108"	"118810110"	"del"	"0"	"00004"	"HSD17B4_000046"	"g.118810108_118810110del"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119474413_119474415del"	""	"pathogenic"	""
"0000639735"	"1"	"99"	"5"	"118811423"	"118811423"	"subst"	"0"	"00004"	"HSD17B4_000047"	"g.118811423G>C"	""	"{DB:DVD}, {PMID:Paton 2002:11810648}, {PMID:Xiong 2015:25525159}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119475728G>C"	""	"pathogenic"	""
"0000639736"	"1"	"99"	"5"	"118811425"	"118811428"	"del"	"0"	"00004"	"HSD17B4_000048"	"g.118811425_118811428del"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119475730_119475733del"	""	"pathogenic"	""
"0000639737"	"1"	"99"	"5"	"118811527"	"118811527"	"subst"	"0"	"00004"	"HSD17B4_000049"	"g.118811527G>T"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}, {PMID:Xiong 2015:25525159}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119475832G>T"	""	"pathogenic"	""
"0000639738"	"1"	"99"	"5"	"118811533"	"118811533"	"subst"	"0"	"00004"	"HSD17B4_000050"	"g.118811533G>C"	""	"{DB:DVD}, {PMID:Nakano 2001:11743515}, {PMID:Ferdinandusse 2006:16385454}, {PMID:Xiong 2015:25525159}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119475838G>C"	""	"pathogenic"	""
"0000639739"	"1"	"77"	"5"	"118813129"	"118813129"	"subst"	"0"	"00004"	"HSD17B4_000051"	"g.118813129C>G"	""	"{DB:DVD}, {PMID:Richards 2015:25741868}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119477434C>G"	""	"likely pathogenic"	""
"0000639740"	"1"	"99"	"5"	"118813139"	"118813139"	"subst"	"0"	"00004"	"HSD17B4_000052"	"g.118813139G>T"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119477444G>T"	""	"pathogenic"	""
"0000639741"	"1"	"99"	"5"	"118813156"	"118813156"	"subst"	"2.43839E-5"	"00004"	"HSD17B4_000053"	"g.118813156C>T"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}, {PMID:Xiong 2015:25525159}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119477461C>T"	""	"pathogenic"	""
"0000639742"	"1"	"99"	"5"	"118813185"	"118813186"	"del"	"0"	"00004"	"HSD17B4_000054"	"g.118813185_118813186del"	""	"{DB:DVD}, {PMID:van Grunsven 1999:9915948}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119477490_119477491del"	""	"pathogenic"	""
"0000639743"	"1"	"99"	"5"	"118814552"	"118814552"	"subst"	"0"	"00004"	"HSD17B4_000055"	"g.118814552C>T"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119478857C>T"	""	"pathogenic"	""
"0000639744"	"1"	"99"	"5"	"118814566"	"118814566"	"subst"	"0"	"00004"	"HSD17B4_000056"	"g.118814566A>G"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119478871A>G"	""	"pathogenic"	""
"0000639745"	"1"	"99"	"5"	"118814579"	"118814579"	"subst"	"0"	"00004"	"HSD17B4_000057"	"g.118814579C>A"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119478884C>A"	""	"pathogenic"	""
"0000639746"	"1"	"77"	"5"	"118814620"	"118814620"	"subst"	"0"	"00004"	"HSD17B4_000058"	"g.118814620A>G"	""	"{DB:DVD}, {PMID:Richards 2015:25741868}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119478925A>G"	""	"likely pathogenic"	""
"0000639747"	"1"	"99"	"5"	"118814624"	"118814624"	"subst"	"0"	"00004"	"HSD17B4_000059"	"g.118814624C>T"	""	"{DB:DVD}, {PMID:Möller 2001:11165012}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119478929C>T"	""	"pathogenic"	""
"0000639748"	"1"	"99"	"5"	"118814681"	"118814681"	"subst"	"1.62843E-5"	"00004"	"HSD17B4_000060"	"g.118814681C>T"	""	"{DB:DVD}, {PMID:Lieber 2014:24602372}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119478986C>T"	""	"pathogenic"	""
"0000639749"	"1"	"99"	"5"	"118824914"	"118824914"	"subst"	"0"	"00004"	"HSD17B4_000061"	"g.118824914A>G"	""	"{DB:DVD}, {PMID:Pierce 2010:20673864}, {PMID:Fiumara 2004:15216544}, {PMID:McCarthy 1985:4061497}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119489219A>G"	""	"pathogenic"	""
"0000639750"	"1"	"99"	"5"	"118824916"	"118824916"	"subst"	"0"	"00004"	"HSD17B4_000062"	"g.118824916G>T"	""	"{DB:DVD}, {PMID:Möller 2001:11165012}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119489221G>T"	""	"pathogenic"	""
"0000639751"	"1"	"99"	"5"	"118824936"	"118824936"	"subst"	"8.12995E-6"	"00004"	"HSD17B4_000063"	"g.118824936G>A"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}, {PMID:Xiong 2015:25525159}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119489241G>A"	""	"pathogenic"	""
"0000639752"	"1"	"99"	"5"	"118824958"	"118824958"	"subst"	"0"	"00004"	"HSD17B4_000064"	"g.118824958G>A"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119489263G>A"	""	"pathogenic"	""
"0000639753"	"1"	"99"	"5"	"118824974"	"118824974"	"subst"	"4.06643E-6"	"00004"	"HSD17B4_000065"	"g.118824974T>C"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119489279T>C"	""	"pathogenic"	""
"0000639754"	"1"	"99"	"5"	"118827801"	"118827801"	"subst"	"0"	"00004"	"HSD17B4_000066"	"g.118827801G>A"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119492106G>A"	""	"pathogenic"	""
"0000639755"	"1"	"99"	"5"	"118827805"	"118827805"	"subst"	"0"	"00004"	"HSD17B4_000067"	"g.118827805G>A"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119492110G>A"	""	"pathogenic"	""
"0000639756"	"1"	"99"	"5"	"118829515"	"118829515"	"subst"	"8.14604E-6"	"00004"	"HSD17B4_000006"	"g.118829515C>T"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119493820C>T"	""	"pathogenic"	""
"0000639757"	"1"	"99"	"5"	"118829518"	"118829518"	"subst"	"0"	"00004"	"HSD17B4_000068"	"g.118829518T>G"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}, {PMID:Xiong 2015:25525159}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119493823T>G"	""	"pathogenic"	""
"0000639758"	"1"	"99"	"5"	"118829561"	"118829561"	"del"	"0"	"00004"	"HSD17B4_000069"	"g.118829561del"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119493866del"	""	"pathogenic"	""
"0000639759"	"1"	"99"	"5"	"118829592"	"118829592"	"subst"	"4.06964E-6"	"00004"	"HSD17B4_000070"	"g.118829592G>T"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}, {PMID:Xiong 2015:25525159}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119493897G>T"	""	"pathogenic"	""
"0000639760"	"1"	"99"	"5"	"118829596"	"118829596"	"subst"	"0"	"00004"	"HSD17B4_000001"	"g.118829596A>T"	""	"{DB:DVD}, {PMID:Bell 2011:21228398}, {PMID:Xiong 2015:25525159}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119493901A>T"	""	"pathogenic"	""
"0000639761"	"1"	"99"	"5"	"118829597"	"118829599"	"del"	"0"	"00004"	"HSD17B4_000071"	"g.118829597_118829599del"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119493902_119493904del"	""	"pathogenic"	""
"0000639762"	"1"	"99"	"5"	"118832238"	"118832250"	"del"	"0"	"00004"	"HSD17B4_000072"	"g.118832238_118832250del"	""	"{DB:DVD}, {PMID:van Grunsven 1999:9915948}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119496543_119496555del"	""	"pathogenic"	""
"0000639763"	"1"	"99"	"5"	"118832310"	"118832310"	"dup"	"0"	"00004"	"HSD17B4_000073"	"g.118832310dup"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119496615dup"	""	"pathogenic"	""
"0000639764"	"1"	"99"	"5"	"118835003"	"118835011"	"dup"	"0"	"00004"	"HSD17B4_000074"	"g.118835003_118835011dup"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119499308_119499316dup"	""	"pathogenic"	""
"0000639765"	"1"	"99"	"5"	"118835081"	"118835081"	"subst"	"0"	"00004"	"HSD17B4_000075"	"g.118835081G>A"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}, {PMID:Tsuchida 2012:22864515}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119499386G>A"	""	"pathogenic"	""
"0000639766"	"1"	"99"	"5"	"118835091"	"118835091"	"subst"	"0"	"00004"	"HSD17B4_000076"	"g.118835091T>G"	""	"{DB:DVD}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119499396T>G"	""	"pathogenic"	""
"0000639767"	"1"	"99"	"5"	"118835136"	"118835136"	"subst"	"0"	"00004"	"HSD17B4_000077"	"g.118835136A>G"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}, {PMID:Tsuchida 2012:22864515}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119499441A>G"	""	"pathogenic"	""
"0000639768"	"1"	"99"	"5"	"118837740"	"118837740"	"subst"	"0"	"00004"	"HSD17B4_000078"	"g.118837740T>C"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}, {PMID:Tsuchida 2012:22864515}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119502045T>C"	""	"pathogenic"	""
"0000639769"	"1"	"99"	"5"	"118844871"	"118844871"	"subst"	"4.06157E-6"	"00004"	"HSD17B4_000079"	"g.118844871A>G"	""	"{DB:DVD}, {PMID:van Grunsven 1999:10400999}, {PMID:Tsuchida 2012:22864515}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119509176A>G"	""	"pathogenic"	""
"0000639770"	"1"	"99"	"5"	"118844871"	"118844871"	"subst"	"2.03079E-5"	"00004"	"HSD17B4_000014"	"g.118844871A>T"	""	"{DB:DVD}, {PMID:van Grunsven 1999:10400999}, {PMID:Ferdinandusse 2006:16385454}, {PMID:Tsuchida 2012:22864515}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119509176A>T"	""	"pathogenic"	""
"0000639771"	"1"	"99"	"5"	"118860923"	"118860923"	"subst"	"1.2213E-5"	"00004"	"HSD17B4_000080"	"g.118860923C>T"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}, {PMID:Tsuchida 2012:22864515}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119525228C>T"	""	"pathogenic"	""
"0000639772"	"1"	"99"	"5"	"118860924"	"118860924"	"subst"	"0"	"00004"	"HSD17B4_000081"	"g.118860924G>A"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}, {PMID:Tsuchida 2012:22864515}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119525229G>A"	""	"pathogenic"	""
"0000639773"	"1"	"99"	"5"	"118860935"	"118860935"	"subst"	"0"	"00004"	"HSD17B4_000082"	"g.118860935G>T"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}, {PMID:Tsuchida 2012:22864515}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119525240G>T"	""	"pathogenic"	""
"0000639774"	"1"	"99"	"5"	"118860944"	"118860944"	"subst"	"0"	"00004"	"HSD17B4_000083"	"g.118860944C>A"	""	"{DB:DVD}, {PMID:Sawyer 2014:24108619}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119525249C>A"	""	"pathogenic"	""
"0000639775"	"1"	"99"	"5"	"118860945"	"118860945"	"subst"	"0"	"00004"	"HSD17B4_000084"	"g.118860945C>T"	""	"{DB:DVD}, {PMID:Lines 2014:24553428}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119525250C>T"	""	"pathogenic"	""
"0000639776"	"1"	"99"	"5"	"118860952"	"118860952"	"subst"	"4.06861E-6"	"00004"	"HSD17B4_000085"	"g.118860952C>G"	""	"{DB:DVD}, {PMID:Shaheen 2011:20681997}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119525257C>G"	""	"pathogenic"	""
"0000639777"	"1"	"99"	"5"	"118860954"	"118860954"	"subst"	"0"	"00004"	"HSD17B4_000086"	"g.118860954T>C"	""	"{DB:DVD}, {PMID:McMillan 2012:23181892}, {PMID:Ferdinandusse 2006:16385454}, {PMID:Tsuchida 2012:22864515}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119525259T>C"	""	"pathogenic"	""
"0000639778"	"1"	"99"	"5"	"118861612"	"118861612"	"subst"	"0"	"00004"	"HSD17B4_000087"	"g.118861612G>T"	""	"{DB:DVD}, {PMID:Mizumoto 2012:22507161}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119525917G>T"	""	"pathogenic"	""
"0000639779"	"1"	"99"	"5"	"118861624"	"118861624"	"subst"	"0"	"00004"	"HSD17B4_000088"	"g.118861624C>T"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}, {PMID:Tsuchida 2012:22864515}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119525929C>T"	""	"pathogenic"	""
"0000639780"	"1"	"99"	"5"	"118861633"	"118861633"	"subst"	"0"	"00004"	"HSD17B4_000089"	"g.118861633A>G"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}, {PMID:Tsuchida 2012:22864515}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119525938A>G"	""	"pathogenic"	""
"0000639781"	"1"	"99"	"5"	"118861635"	"118861635"	"subst"	"0"	"00004"	"HSD17B4_000090"	"g.118861635G>C"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}, {PMID:Tsuchida 2012:22864515}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119525940G>C"	""	"pathogenic"	""
"0000639782"	"1"	"99"	"5"	"118861666"	"118861666"	"subst"	"4.06468E-6"	"00004"	"HSD17B4_000091"	"g.118861666G>C"	""	"{DB:DVD}, {PMID:Lines 2014:24553428}, {PMID:Sawyer 2014:24108619}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119525971G>C"	""	"pathogenic"	""
"0000639783"	"1"	"99"	"5"	"118862851"	"118862851"	"subst"	"8.13703E-6"	"00004"	"HSD17B4_000092"	"g.118862851T>A"	""	"{DB:DVD}, {PMID:Pierce 2010:20673864}, {PMID:Xiong 2015:25525159}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119527156T>A"	""	"pathogenic"	""
"0000639784"	"1"	"99"	"5"	"118867078"	"118867078"	"subst"	"0"	"00004"	"HSD17B4_000093"	"g.118867078G>T"	""	"{DB:DVD}, {PMID:Mizumoto 2012:22507161}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119531383G>T"	""	"pathogenic"	""
"0000639785"	"1"	"99"	"5"	"118872153"	"118872153"	"subst"	"4.06712E-6"	"00004"	"HSD17B4_000094"	"g.118872153C>T"	""	"{DB:DVD}, {PMID:Ferdinandusse 2006:16385454}, {PMID:Xiong 2015:25525159}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119536458C>T"	""	"pathogenic"	""
"0000639786"	"1"	"99"	"5"	"118877685"	"118877685"	"subst"	"0"	"00004"	"HSD17B4_000095"	"g.118877685T>A"	""	"{DB:DVD}, {PMID:Shaheen 2011:20681997}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.119541990T>A"	""	"pathogenic"	""
"0000651561"	"1"	"50"	"5"	"118850709"	"118850709"	"subst"	"0.0033571"	"03575"	"HSD17B4_000016"	"g.118850709G>A"	"5/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; {DB:CLININrs28943591}"	"Germline"	""	"rs28943591"	"0"	""	""	"g.119515014G>A"	""	"VUS"	""
"0000655242"	"0"	"50"	"5"	"118811548"	"118811548"	"subst"	"0"	"01943"	"HSD17B4_000096"	"g.118811548T>A"	""	""	""	"HSD17B4(NM_001199291.2):c.407T>A (p.I136K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.119475853T>A"	""	"VUS"	""
"0000677358"	"0"	"30"	"5"	"118811394"	"118811394"	"subst"	"0.00044414"	"01943"	"HSD17B4_000097"	"g.118811394A>G"	""	""	""	"HSD17B4(NM_001199291.2):c.356-7A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000677359"	"0"	"50"	"5"	"118835112"	"118835112"	"subst"	"1.21997E-5"	"01943"	"HSD17B4_000024"	"g.118835112C>T"	""	""	""	"HSD17B4(NM_001199291.2):c.1148C>T (p.P383L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000720089"	"0"	"30"	"5"	"118835129"	"118835129"	"subst"	"1.22003E-5"	"01943"	"HSD17B4_000098"	"g.118835129A>G"	""	""	""	"HSD17B4(NM_001199291.2):c.1165A>G (p.I389V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000763292"	"3"	"70"	"5"	"118877608"	"118877608"	"del"	"0"	"00006"	"HSD17B4_000099"	"g.118877608del"	""	"{PMID:Anazi 2017:27431290}"	""	"NM_001199291.2:c.2205del"	"ACMG PVS1, PM2"	"Germline"	""	""	"0"	""	""	"g.119541913del"	""	"likely pathogenic"	"ACMG"
"0000801809"	"0"	"30"	"5"	"118835083"	"118835083"	"subst"	"0"	"01943"	"HSD17B4_000100"	"g.118835083C>G"	""	""	""	"HSD17B4(NM_001199291.2):c.1119C>G (p.A373=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000801810"	"0"	"30"	"5"	"118867035"	"118867035"	"subst"	"0.000150355"	"01943"	"HSD17B4_000101"	"g.118867035G>A"	""	""	""	"HSD17B4(NM_001199291.2):c.2004G>A (p.V668=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000801811"	"0"	"50"	"5"	"118872248"	"118872248"	"subst"	"4.06868E-6"	"01943"	"HSD17B4_000102"	"g.118872248A>G"	""	""	""	"HSD17B4(NM_001199291.2):c.2196+3A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000831657"	"3"	"90"	"5"	"118814708"	"118814708"	"subst"	"0"	"00435"	"HSD17B4_000103"	"g.118814708T>C"	""	""	""	"g.31561T>C"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000859701"	"0"	"50"	"5"	"118792001"	"118792001"	"subst"	"1.21842E-5"	"01943"	"HSD17B4_000105"	"g.118792001T>G"	""	""	""	"HSD17B4(NM_001199291.2):c.69-9T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000859702"	"0"	"30"	"5"	"118835177"	"118835177"	"subst"	"8.13716E-5"	"01943"	"HSD17B4_000106"	"g.118835177A>G"	""	""	""	"HSD17B4(NM_001199291.2):c.1213A>G (p.I405V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000859703"	"0"	"50"	"5"	"118844863"	"118844863"	"subst"	"4.06204E-6"	"02325"	"HSD17B4_000033"	"g.118844863T>C"	""	""	""	"HSD17B4(NM_000414.4):c.1361T>C (p.I454T), HSD17B4(NM_001199291.2):c.1436T>C (p.I479T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000859704"	"0"	"50"	"5"	"118860973"	"118860973"	"subst"	"0.000431463"	"01943"	"HSD17B4_000107"	"g.118860973T>A"	""	""	""	"HSD17B4(NM_001199291.2):c.1641T>A (p.S547R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000881115"	"0"	"70"	"5"	"118862875"	"118862876"	"del"	"0"	"04400"	"HSD17B4_000108"	"g.118862875_118862876del"	""	""	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.119527180_119527181del"	""	"likely pathogenic (recessive)"	"ACMG"
"0000908868"	"1"	"70"	"5"	"118842585"	"118842585"	"subst"	"0"	"00006"	"HSD17B4_000109"	"g.118842585G>C"	""	"{PMID:Bournazos 2022:34906502}"	""	""	"transcripts cycloheximide insensitive"	"Germline"	""	""	"0"	""	""	"g.119506890G>C"	""	"pathogenic (recessive)"	""
"0000908931"	"2"	"90"	"5"	"118788316"	"118788316"	"subst"	"0.000204195"	"00006"	"HSD17B4_000004"	"g.118788316G>A"	""	"{PMID:Bournazos 2022:34906502}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.119452621G>A"	""	"pathogenic (recessive)"	""
"0000928989"	"0"	"30"	"5"	"118807397"	"118807397"	"subst"	"3.60991E-5"	"02325"	"HSD17B4_000110"	"g.118807397T>C"	""	""	""	"HSD17B4(NM_000414.4):c.113-2206T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000976479"	"0"	"50"	"5"	"118872217"	"118872217"	"subst"	"0"	"01804"	"HSD17B4_000111"	"g.118872217T>C"	""	""	""	"HSD17B4(NM_000414.4):c.2093T>C (p.(Val698Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001034809"	"0"	"50"	"5"	"118809651"	"118809651"	"subst"	"3.65839E-5"	"01804"	"HSD17B4_000112"	"g.118809651C>T"	""	""	""	"HSD17B4(NM_000414.4):c.161C>T (p.(Ala54Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001034810"	"0"	"50"	"5"	"118837739"	"118837739"	"subst"	"5.69513E-5"	"01804"	"HSD17B4_000113"	"g.118837739C>T"	""	""	""	"HSD17B4(NM_000414.4):c.1213C>T (p.(Leu405Phe))"	"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 HSD17B4
## Count = 128
"{{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}}"
"0000001047"	"00024089"	"50"	"823"	"0"	"823"	"0"	"c.823A>T"	"r.(?)"	"p.(Lys275*)"	"11"
"0000086582"	"00024089"	"90"	"46"	"0"	"46"	"0"	"c.46G>A"	"r.(46g>a)"	"p.(Gly16Ser)"	"1"
"0000086583"	"00024089"	"70"	"244"	"0"	"244"	"0"	"c.244G>T"	"r.(244g>u)"	"p.(Val82Phe)"	"4"
"0000116911"	"00024089"	"90"	"817"	"0"	"817"	"0"	"c.817C>T"	"r.(?)"	"p.(Arg273Cys)"	"11"
"0000116912"	"00024089"	"90"	"1207"	"0"	"1207"	"0"	"c.1207G>A"	"r.?"	"p.(Gly403Arg)"	"13"
"0000139994"	"00024089"	"10"	"317"	"0"	"317"	"0"	"c.317G>A"	"r.(?)"	"p.(Arg106His)"	"6"
"0000139995"	"00024089"	"10"	"1675"	"0"	"1675"	"0"	"c.1675A>G"	"r.(1675a>g)"	"p.(Ile559Val)"	"19"
"0000248799"	"00024089"	"10"	"1675"	"0"	"1675"	"0"	"c.1675A>G"	"r.(?)"	"p.(Ile559Val)"	""
"0000249669"	"00024089"	"90"	"1369"	"0"	"1369"	"0"	"c.1369A>T"	"r.(?)"	"p.(Asn457Tyr)"	""
"0000256012"	"00024089"	"50"	"465"	"0"	"465"	"0"	"c.465A>G"	"r.(?)"	"p.(Ile155Met)"	""
"0000281422"	"00024089"	"10"	"1437"	"200"	"1437"	"200"	"c.1437+200G>A"	"r.(=)"	"p.(=)"	""
"0000281423"	"00024089"	"30"	"1471"	"0"	"1471"	"0"	"c.1471G>A"	"r.(?)"	"p.(Ala491Thr)"	""
"0000281424"	"00024089"	"10"	"317"	"0"	"317"	"0"	"c.317G>A"	"r.(?)"	"p.(Arg106His)"	""
"0000281425"	"00024089"	"90"	"46"	"0"	"46"	"0"	"c.46G>A"	"r.(?)"	"p.(Gly16Ser)"	""
"0000283432"	"00024089"	"70"	"46"	"0"	"46"	"0"	"c.46G>A"	"r.(?)"	"p.(Gly16Ser)"	""
"0000289210"	"00024089"	"10"	"1059"	"0"	"1059"	"0"	"c.1059G>A"	"r.(?)"	"p.(Ala353=)"	""
"0000289211"	"00024089"	"30"	"1210"	"-8"	"1210"	"-8"	"c.1210-8T>C"	"r.(=)"	"p.(=)"	""
"0000289212"	"00024089"	"50"	"1759"	"0"	"1759"	"0"	"c.1759C>G"	"r.(?)"	"p.(Gln587Glu)"	""
"0000289213"	"00024089"	"50"	"373"	"0"	"373"	"0"	"c.373C>T"	"r.(?)"	"p.(Arg125Trp)"	""
"0000289214"	"00024089"	"90"	"46"	"0"	"46"	"0"	"c.46G>A"	"r.(?)"	"p.(Gly16Ser)"	""
"0000289215"	"00024089"	"30"	"786"	"0"	"786"	"0"	"c.786C>T"	"r.(?)"	"p.(His262=)"	""
"0000330488"	"00024089"	"50"	"742"	"0"	"742"	"0"	"c.742C>T"	"r.(?)"	"p.(Arg248Cys)"	""
"0000330490"	"00024089"	"50"	"1574"	"-6"	"1574"	"-6"	"c.1574-6T>C"	"r.(=)"	"p.(=)"	""
"0000341851"	"00024089"	"10"	"317"	"0"	"317"	"0"	"c.317G>A"	"r.(?)"	"p.(Arg106His)"	""
"0000350657"	"00024089"	"70"	"226"	"0"	"226"	"0"	"c.226G>T"	"r.(?)"	"p.(Val76Leu)"	""
"0000523881"	"00024089"	"90"	"46"	"0"	"46"	"0"	"c.46G>A"	"r.(?)"	"p.(Gly16Ser)"	""
"0000523882"	"00024089"	"50"	"58"	"187"	"58"	"187"	"c.58+187A>G"	"r.(=)"	"p.(=)"	""
"0000523883"	"00024089"	"50"	"566"	"0"	"566"	"0"	"c.566G>C"	"r.(?)"	"p.(Cys189Ser)"	""
"0000523884"	"00024089"	"10"	"666"	"0"	"666"	"0"	"c.666C>G"	"r.(?)"	"p.(Val222=)"	""
"0000523885"	"00024089"	"50"	"956"	"0"	"956"	"0"	"c.956C>T"	"r.(?)"	"p.(Thr319Ile)"	""
"0000523887"	"00024089"	"50"	"1317"	"0"	"1317"	"0"	"c.1317A>G"	"r.(?)"	"p.(Val439=)"	""
"0000523888"	"00024089"	"30"	"1471"	"0"	"1471"	"0"	"c.1471G>A"	"r.(?)"	"p.(Ala491Thr)"	""
"0000523890"	"00024089"	"70"	"1681"	"0"	"1681"	"0"	"c.1681G>C"	"r.(?)"	"p.(Ala561Pro)"	""
"0000523891"	"00024089"	"30"	"1768"	"-8"	"1768"	"-8"	"c.1768-8C>T"	"r.(=)"	"p.(=)"	""
"0000523892"	"00024089"	"50"	"1769"	"0"	"1769"	"0"	"c.1769T>A"	"r.(?)"	"p.(Val590Asp)"	""
"0000523893"	"00024089"	"50"	"1811"	"0"	"1811"	"0"	"c.1811A>C"	"r.(?)"	"p.(Asp604Ala)"	""
"0000609404"	"00024089"	"50"	"58"	"164"	"58"	"164"	"c.58+164C>A"	"r.(=)"	"p.(=)"	""
"0000609405"	"00024089"	"30"	"1199"	"0"	"1199"	"0"	"c.1199A>G"	"r.(?)"	"p.(Asn400Ser)"	""
"0000609406"	"00024089"	"50"	"1417"	"0"	"1417"	"0"	"c.1417C>T"	"r.(?)"	"p.(Arg473Trp)"	""
"0000609407"	"00024089"	"50"	"1754"	"0"	"1754"	"0"	"c.1754A>G"	"r.(?)"	"p.(His585Arg)"	""
"0000621450"	"00024089"	"30"	"994"	"0"	"994"	"0"	"c.994C>T"	"r.(?)"	"p.(Leu332Phe)"	""
"0000621451"	"00024089"	"50"	"1361"	"0"	"1361"	"0"	"c.1361T>C"	"r.(?)"	"p.(Ile454Thr)"	""
"0000629283"	"00024089"	"90"	"46"	"0"	"46"	"0"	"c.46G>A"	"r.(?)"	"p.(Gly16Ser)"	""
"0000629343"	"00024089"	"90"	"367"	"0"	"367"	"0"	"c.367C>T"	"r.(?)"	"p.(His123Tyr)"	""
"0000639724"	"00024089"	"99"	"43"	"0"	"43"	"0"	"c.43A>G"	"r.(?)"	"p.(Thr15Ala)"	"1"
"0000639725"	"00024089"	"99"	"45"	"0"	"45"	"0"	"c.45del"	"r.(?)"	"p.(Gly16Alafs*20)"	"1"
"0000639726"	"00024089"	"99"	"46"	"0"	"46"	"0"	"c.46G>A"	"r.(?)"	"p.(Gly16Ser)"	"1"
"0000639727"	"00024089"	"99"	"50"	"0"	"50"	"0"	"c.50C>T"	"r.(?)"	"p.(Ala17Val)"	"1"
"0000639728"	"00024089"	"99"	"63"	"0"	"63"	"0"	"c.63G>T"	"r.(?)"	"p.(Leu21Phe)"	"2"
"0000639729"	"00024089"	"99"	"71"	"0"	"71"	"0"	"c.71C>T"	"r.(?)"	"p.(Ala24Val)"	"2"
"0000639730"	"00024089"	"99"	"76"	"0"	"76"	"0"	"c.76G>C"	"r.(?)"	"p.(Ala26Pro)"	"2"
"0000639731"	"00024089"	"99"	"101"	"0"	"101"	"0"	"c.101C>T"	"r.(?)"	"p.(Ala34Val)"	"2"
"0000639732"	"00024089"	"99"	"130"	"0"	"130"	"0"	"c.130del"	"r.(?)"	"p.(Asp44Thrfs*10)"	"3"
"0000639733"	"00024089"	"99"	"216"	"0"	"216"	"0"	"c.216C>A"	"r.(?)"	"p.(Asn72Lys)"	"3"
"0000639734"	"00024089"	"99"	"233"	"0"	"235"	"0"	"c.233_235del"	"r.(?)"	"p.(Glu78del)"	"4"
"0000639735"	"00024089"	"99"	"302"	"1"	"302"	"1"	"c.302+1G>C"	"r.spl?"	"p.?"	"5i"
"0000639736"	"00024089"	"99"	"302"	"3"	"302"	"6"	"c.302+3_302+6del"	"r.spl?"	"p.?"	"5i"
"0000639737"	"00024089"	"99"	"311"	"0"	"311"	"0"	"c.311G>T"	"r.(?)"	"p.(Arg104Met)"	"6"
"0000639738"	"00024089"	"99"	"317"	"0"	"317"	"0"	"c.317G>C"	"r.(?)"	"p.(Arg106Pro)"	"6"
"0000639739"	"00024089"	"77"	"367"	"0"	"367"	"0"	"c.367C>G"	"r.(?)"	"p.(His123Asp)"	"7"
"0000639740"	"00024089"	"99"	"377"	"0"	"377"	"0"	"c.377G>T"	"r.(?)"	"p.(Gly126Val)"	"7"
"0000639741"	"00024089"	"99"	"394"	"0"	"394"	"0"	"c.394C>T"	"r.(?)"	"p.(Arg132Trp)"	"7"
"0000639742"	"00024089"	"99"	"423"	"0"	"424"	"0"	"c.423_424del"	"r.(?)"	"p.(Lys142Valfs*23)"	"7"
"0000639743"	"00024089"	"99"	"458"	"0"	"458"	"0"	"c.458C>T"	"r.(?)"	"p.(Ser153Leu)"	"8"
"0000639744"	"00024089"	"99"	"472"	"0"	"472"	"0"	"c.472A>G"	"r.(?)"	"p.(Asn158Asp)"	"8"
"0000639745"	"00024089"	"99"	"485"	"0"	"485"	"0"	"c.485C>A"	"r.(?)"	"p.(Ala162Asp)"	"8"
"0000639746"	"00024089"	"77"	"526"	"0"	"526"	"0"	"c.526A>G"	"r.(?)"	"p.(Asn176Asp)"	"8"
"0000639747"	"00024089"	"99"	"530"	"0"	"530"	"0"	"c.530C>T"	"r.(?)"	"p.(Ser177Phe)"	"8"
"0000639748"	"00024089"	"99"	"587"	"0"	"587"	"0"	"c.587C>T"	"r.(?)"	"p.(Ala196Val)"	"8"
"0000639749"	"00024089"	"99"	"650"	"0"	"650"	"0"	"c.650A>G"	"r.(?)"	"p.(Tyr217Cys)"	"9"
"0000639750"	"00024089"	"99"	"652"	"0"	"652"	"0"	"c.652G>T"	"r.(?)"	"p.(Val218Leu)"	"9"
"0000639751"	"00024089"	"99"	"672"	"0"	"672"	"0"	"c.672G>A"	"r.(?)"	"p.(Trp224*)"	"9"
"0000639752"	"00024089"	"99"	"694"	"0"	"694"	"0"	"c.694G>A"	"r.(?)"	"p.(Glu232Lys)"	"9"
"0000639753"	"00024089"	"99"	"710"	"0"	"710"	"0"	"c.710T>C"	"r.(?)"	"p.(Phe237Ser)"	"9"
"0000639754"	"00024089"	"99"	"721"	"0"	"721"	"0"	"c.721G>A"	"r.(?)"	"p.(Ala241Thr)"	"10"
"0000639755"	"00024089"	"99"	"725"	"0"	"725"	"0"	"c.725G>A"	"r.(?)"	"p.(Gly242Glu)"	"10"
"0000639756"	"00024089"	"99"	"742"	"0"	"742"	"0"	"c.742C>T"	"r.(?)"	"p.(Arg248Cys)"	"11"
"0000639757"	"00024089"	"99"	"745"	"0"	"745"	"0"	"c.745T>G"	"r.(?)"	"p.(Trp249Gly)"	"11"
"0000639758"	"00024089"	"99"	"788"	"0"	"788"	"0"	"c.788del"	"r.(?)"	"p.(Pro263Glnfs*2)"	"11"
"0000639759"	"00024089"	"99"	"819"	"0"	"819"	"0"	"c.819G>T"	"r.(?)"	"p.(Trp273Cys)"	"11"
"0000639760"	"00024089"	"99"	"823"	"0"	"823"	"0"	"c.823A>T"	"r.(?)"	"p.(Lys275*)"	"11"
"0000639761"	"00024089"	"99"	"824"	"0"	"826"	"0"	"c.824_826del"	"r.(?)"	"p.(Lys275del)"	"11"
"0000639762"	"00024089"	"99"	"869"	"0"	"881"	"0"	"c.869_881del"	"r.(?)"	"p.(Glu290Valfs*2)"	"12"
"0000639763"	"00024089"	"99"	"941"	"0"	"941"	"0"	"c.941dup"	"r.(?)"	"p.(Ser314Argfs*53)"	"12"
"0000639764"	"00024089"	"99"	"973"	"-9"	"973"	"-1"	"c.973-9_973-1dup"	"r.spl?"	"p.?"	"12i"
"0000639765"	"00024089"	"99"	"1042"	"0"	"1042"	"0"	"c.1042G>A"	"r.(?)"	"p.(Ala348Thr)"	"13"
"0000639766"	"00024089"	"99"	"1052"	"0"	"1052"	"0"	"c.1052T>G"	"r.(?)"	"p.(Val351Gly)"	"13"
"0000639767"	"00024089"	"99"	"1097"	"0"	"1097"	"0"	"c.1097A>G"	"r.(?)"	"p.(Glu366Gly)"	"13"
"0000639768"	"00024089"	"99"	"1214"	"0"	"1214"	"0"	"c.1214T>C"	"r.(?)"	"p.(Leu405Pro)"	"14"
"0000639769"	"00024089"	"99"	"1369"	"0"	"1369"	"0"	"c.1369A>G"	"r.(?)"	"p.(Asn457Asp)"	"16"
"0000639770"	"00024089"	"99"	"1369"	"0"	"1369"	"0"	"c.1369A>T"	"r.(?)"	"p.(Asn457Tyr)"	"16"
"0000639771"	"00024089"	"99"	"1516"	"0"	"1516"	"0"	"c.1516C>T"	"r.(?)"	"p.(Arg506Cys)"	"18"
"0000639772"	"00024089"	"99"	"1517"	"0"	"1517"	"0"	"c.1517G>A"	"r.(?)"	"p.(Arg506His)"	"18"
"0000639773"	"00024089"	"99"	"1528"	"0"	"1528"	"0"	"c.1528G>T"	"r.(?)"	"p.(Asp510Tyr)"	"18"
"0000639774"	"00024089"	"99"	"1537"	"0"	"1537"	"0"	"c.1537C>A"	"r.(?)"	"p.(Pro513Thr)"	"18"
"0000639775"	"00024089"	"99"	"1538"	"0"	"1538"	"0"	"c.1538C>T"	"r.(?)"	"p.(Pro513Leu)"	"18"
"0000639776"	"00024089"	"99"	"1545"	"0"	"1545"	"0"	"c.1545C>G"	"r.(?)"	"p.(His515Gln)"	"18"
"0000639777"	"00024089"	"99"	"1547"	"0"	"1547"	"0"	"c.1547T>C"	"r.(?)"	"p.(Ile516Thr)"	"18"
"0000639778"	"00024089"	"99"	"1574"	"0"	"1574"	"0"	"c.1574G>T"	"r.(?)"	"p.(Gly525Val)"	"19"
"0000639779"	"00024089"	"99"	"1586"	"0"	"1586"	"0"	"c.1586C>T"	"r.(?)"	"p.(Pro529Leu)"	"19"
"0000639780"	"00024089"	"99"	"1595"	"0"	"1595"	"0"	"c.1595A>G"	"r.(?)"	"p.(His532Arg)"	"19"
"0000639781"	"00024089"	"99"	"1597"	"0"	"1597"	"0"	"c.1597G>C"	"r.(?)"	"p.(Gly533Arg)"	"19"
"0000639782"	"00024089"	"99"	"1628"	"0"	"1628"	"0"	"c.1628G>C"	"r.(?)"	"p.(Arg543Pro)"	"19"
"0000639783"	"00024089"	"99"	"1704"	"0"	"1704"	"0"	"c.1704T>A"	"r.(?)"	"p.(Tyr568*)"	"20"
"0000639784"	"00024089"	"99"	"1972"	"0"	"1972"	"0"	"c.1972G>T"	"r.(?)"	"p.(Gly658*)"	"22"
"0000639785"	"00024089"	"99"	"2029"	"0"	"2029"	"0"	"c.2029C>T"	"r.(?)"	"p.(Gln677*)"	"23"
"0000639786"	"00024089"	"99"	"2207"	"0"	"2207"	"0"	"c.2207T>A"	"r.(?)"	"p.(Leu736His)"	"24"
"0000651561"	"00024089"	"50"	"1471"	"0"	"1471"	"0"	"c.1471G>A"	"r.(?)"	"p.(Ala491Thr)"	""
"0000655242"	"00024089"	"50"	"332"	"0"	"332"	"0"	"c.332T>A"	"r.(?)"	"p.(Ile111Lys)"	""
"0000677358"	"00024089"	"30"	"281"	"-7"	"281"	"-7"	"c.281-7A>G"	"r.(=)"	"p.(=)"	""
"0000677359"	"00024089"	"50"	"1073"	"0"	"1073"	"0"	"c.1073C>T"	"r.(?)"	"p.(Pro358Leu)"	""
"0000720089"	"00024089"	"30"	"1090"	"0"	"1090"	"0"	"c.1090A>G"	"r.(?)"	"p.(Ile364Val)"	""
"0000763292"	"00024089"	"70"	"2130"	"0"	"2130"	"0"	"c.2130del"	"r.(?)"	"p.(Phe710Leufs*5)"	""
"0000801809"	"00024089"	"30"	"1044"	"0"	"1044"	"0"	"c.1044C>G"	"r.(?)"	"p.(Ala348=)"	""
"0000801810"	"00024089"	"30"	"1929"	"0"	"1929"	"0"	"c.1929G>A"	"r.(?)"	"p.(Val643=)"	""
"0000801811"	"00024089"	"50"	"2121"	"3"	"2121"	"3"	"c.2121+3A>G"	"r.spl?"	"p.?"	""
"0000831657"	"00024089"	"90"	"614"	"0"	"614"	"0"	"c.614T>C"	"r.(?)"	"p.(Met205Thr)"	"8"
"0000859701"	"00024089"	"50"	"59"	"-9"	"59"	"-9"	"c.59-9T>G"	"r.(=)"	"p.(=)"	""
"0000859702"	"00024089"	"30"	"1138"	"0"	"1138"	"0"	"c.1138A>G"	"r.(?)"	"p.(Ile380Val)"	""
"0000859703"	"00024089"	"50"	"1361"	"0"	"1361"	"0"	"c.1361T>C"	"r.(?)"	"p.(Ile454Thr)"	""
"0000859704"	"00024089"	"50"	"1566"	"0"	"1566"	"0"	"c.1566T>A"	"r.(?)"	"p.(Ser522Arg)"	""
"0000881115"	"00024089"	"70"	"1728"	"0"	"1729"	"0"	"c.1728_1729del"	"r.(?)"	"p.(Glu576Aspfs*38)"	"20"
"0000908868"	"00024089"	"70"	"1333"	"1"	"1333"	"1"	"c.1333+1G>C"	"r.1262_1333del"	"p.Gly421_Asp444del"	""
"0000908931"	"00024089"	"90"	"46"	"0"	"46"	"0"	"c.46G>A"	"r.46g>a"	"p.Gly16Ser"	""
"0000928989"	"00024089"	"30"	"113"	"-2206"	"113"	"-2206"	"c.113-2206T>C"	"r.(=)"	"p.(=)"	""
"0000976479"	"00024089"	"50"	"2093"	"0"	"2093"	"0"	"c.2093T>C"	"r.(?)"	"p.(Val698Ala)"	""
"0001034809"	"00024089"	"50"	"161"	"0"	"161"	"0"	"c.161C>T"	"r.(?)"	"p.(Ala54Val)"	""
"0001034810"	"00024089"	"50"	"1213"	"0"	"1213"	"0"	"c.1213C>T"	"r.(?)"	"p.(Leu405Phe)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 80
"{{screeningid}}"	"{{variantid}}"
"0000000076"	"0000001047"
"0000056342"	"0000086582"
"0000056342"	"0000086583"
"0000056343"	"0000086582"
"0000056343"	"0000086583"
"0000073284"	"0000116911"
"0000073284"	"0000116912"
"0000087217"	"0000139994"
"0000087217"	"0000139995"
"0000275319"	"0000629283"
"0000275319"	"0000629343"
"0000283982"	"0000639724"
"0000283983"	"0000639725"
"0000283984"	"0000639726"
"0000283985"	"0000639727"
"0000283986"	"0000639728"
"0000283987"	"0000639729"
"0000283988"	"0000639730"
"0000283989"	"0000639731"
"0000283990"	"0000639732"
"0000283991"	"0000639733"
"0000283992"	"0000639734"
"0000283993"	"0000639735"
"0000283994"	"0000639736"
"0000283995"	"0000639737"
"0000283996"	"0000639738"
"0000283997"	"0000639739"
"0000283998"	"0000639740"
"0000283999"	"0000639741"
"0000284000"	"0000639742"
"0000284001"	"0000639743"
"0000284002"	"0000639744"
"0000284003"	"0000639745"
"0000284004"	"0000639746"
"0000284005"	"0000639747"
"0000284006"	"0000639748"
"0000284007"	"0000639749"
"0000284008"	"0000639750"
"0000284009"	"0000639751"
"0000284010"	"0000639752"
"0000284011"	"0000639753"
"0000284012"	"0000639754"
"0000284013"	"0000639755"
"0000284014"	"0000639756"
"0000284015"	"0000639757"
"0000284016"	"0000639758"
"0000284017"	"0000639759"
"0000284018"	"0000639760"
"0000284019"	"0000639761"
"0000284020"	"0000639762"
"0000284021"	"0000639763"
"0000284022"	"0000639764"
"0000284023"	"0000639765"
"0000284024"	"0000639766"
"0000284025"	"0000639767"
"0000284026"	"0000639768"
"0000284027"	"0000639769"
"0000284028"	"0000639770"
"0000284029"	"0000639771"
"0000284030"	"0000639772"
"0000284031"	"0000639773"
"0000284032"	"0000639774"
"0000284033"	"0000639775"
"0000284034"	"0000639776"
"0000284035"	"0000639777"
"0000284036"	"0000639778"
"0000284037"	"0000639779"
"0000284038"	"0000639780"
"0000284039"	"0000639781"
"0000284040"	"0000639782"
"0000284041"	"0000639783"
"0000284042"	"0000639784"
"0000284043"	"0000639785"
"0000284044"	"0000639786"
"0000294872"	"0000651561"
"0000362918"	"0000763292"
"0000399301"	"0000831657"
"0000420755"	"0000881115"
"0000429395"	"0000908868"
"0000429395"	"0000908931"