### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = OAT)
# 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}}"
"OAT"	"ornithine aminotransferase"	"10"	"q26"	"unknown"	"NG_008861.1"	"UD_132118659217"	""	"https://www.LOVD.nl/OAT"	""	"1"	"8091"	"4942"	"613349"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/OAT_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2012-07-16 00:00:00"	"00006"	"2020-08-28 11:57:55"	"00000"	"2024-10-29 21:08:56"


## 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}}"
"00014982"	"OAT"	"transcript variant 1"	"002"	"NM_000274.3"	""	"NP_000265.1"	""	""	""	"-133"	"1959"	"1320"	"126107545"	"126085872"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 3
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"01985"	"GACR;OATD"	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	"AR"	"258870"	""	""	""	"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"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"OAT"	"01985"


## Individuals ## Do not remove or alter this header ##
## Count = 160
"{{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}}"
"00050476"	""	""	""	"2"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, affected sibling(s)"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00059780"	""	""	""	"1"	""	"00235"	""	""	""	""	""	""	"0"	""	""	"Turkey"	""
"00059781"	""	""	""	"1"	""	"00235"	""	""	""	""	"Italy"	""	"0"	""	""	"Southern Italy"	""
"00059782"	""	""	""	"1"	""	"00235"	""	""	""	""	"Italy"	""	"0"	""	""	"Southern Italy"	""
"00059783"	""	""	""	"1"	""	"00235"	""	"1 familie, 2 patients"	""	""	"Italy"	""	"0"	""	""	"Southern Italy"	""
"00059784"	""	""	""	"1"	""	"00235"	""	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"England"	""
"00059785"	""	""	""	"1"	""	"00235"	""	""	""	""	""	""	"0"	""	""	""	""
"00059786"	""	""	""	"1"	""	"00235"	""	""	""	""	"Finland"	""	"0"	""	""	"Finnish"	""
"00059798"	""	""	""	"14"	""	"00015"	"{PMID:Mitchell 1989:2492100}"	"14 Finnish families"	""	""	"Finland"	""	"0"	""	""	"Finnish"	""
"00059799"	""	""	""	"1"	""	"00015"	"{PMID:Mitchell 1989:2492100}"	"Families: Fin 6 and Fin 14"	""	""	"Finland"	""	"0"	""	""	"Finnish"	""
"00059800"	""	""	""	"1"	""	"00015"	"{PMID:Mitchell 1989:2492100}"	""	""	""	"United States"	""	"0"	""	""	"American"	""
"00059801"	""	""	""	"1"	""	"00015"	"{PMID:Ohkubo 2005:15750329}"	"1 familie, 1 patient"	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00059802"	""	""	""	"1"	""	"00015"	"{PMID:Mashima 1992:1609808}"	""	""	""	"Japan"	""	"0"	""	""	""	"Pat5"
"00059803"	""	""	""	"1"	""	"00015"	"{PMID:Brody 1992:1737786}"	"1 familie, 1 patient"	""	""	""	""	"0"	""	""	"Iraq;Jewish"	""
"00059804"	""	""	""	"1"	""	"00015"	"{PMID:Brody 1992:1737786}"	"1 familie, 1 patient"	""	""	""	""	"0"	""	""	"Lebanese Maronite"	""
"00059805"	""	""	""	"1"	""	"00015"	"{PMID:Brody 1992:1737786}"	"1 familie, 1 patient"	""	""	"Finland"	""	"0"	""	""	"Finnish"	""
"00059806"	""	""	""	"1"	""	"00015"	"{PMID:Brody 1992:1737786}"	"1 familie, 1 patient"	""	""	""	""	"0"	""	""	"Finnish/American"	""
"00059807"	""	""	""	"1"	""	"00015"	"{PMID:Brody 1992:1737786}"	"1 familie, 1 patient"	""	""	""	""	"0"	""	""	"West African"	""
"00059808"	""	""	""	"1"	""	"00015"	"{PMID:Brody 1992:1737786}"	"1 familie, 1 patient"	""	""	"India"	""	"0"	""	""	"East Indian"	""
"00059809"	""	""	""	"1"	""	"00015"	"{PMID:Brody 1992:1737786}"	"1 familie, 1 patient"	""	""	""	""	"0"	""	""	"German/American"	""
"00059810"	""	""	""	"1"	""	"00015"	"{PMID:Brody 1992:1737786}"	"1 familie, 1 patient"	""	""	""	""	"0"	""	""	"English/German"	""
"00059811"	""	""	""	"1"	""	"00015"	"{PMID:Brody 1992:1737786}"	"1 familie, 1 patient"	""	""	"France"	""	"0"	""	""	"French"	""
"00059812"	""	""	""	"1"	""	"00015"	"{PMID:Brody 1992:1737786}"	"1 familie, 1 patient"	""	""	"Portugal"	""	"0"	""	""	"Portugese"	""
"00059813"	""	""	""	"1"	""	"00015"	"{PMID:Brody 1992:1737786}"	"1 familie, 1 patient"	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00059814"	""	""	""	"1"	""	"00015"	"{PMID:Brody 1992:1737786}"	"1 familie, 1 patient"	""	""	"Turkey"	""	"0"	""	""	"Turkish (Shephardic)"	""
"00059815"	""	""	""	"1"	""	"00015"	"{PMID:Ramesh 1988:3375240}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00059816"	""	""	""	"1"	""	"00015"	"{PMID:Ramesh 1988:3375240}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00059817"	""	""	""	"1"	""	"00015"	"{PMID:Kobayashi et al.1995:7668253}"	"1 familie, 1 patient"	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00059818"	""	""	""	"1"	""	"00015"	"{PMID:Mashima 1996:8670789}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00059819"	""	""	""	"1"	""	"00015"	"{PMID:Mashima 1996:8670789}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00059820"	""	""	""	"1"	""	"00015"	"{PMID:Mashima 1996:8670789}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00059821"	""	""	""	"1"	""	"00015"	"{PMID:Mashima 1996:8670789}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00059822"	""	""	""	"1"	""	"00015"	"{PMID:Mashima 1996:8670789}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00059823"	""	""	""	"1"	""	"00015"	"{PMID:Park 1992:1427882}"	""	""	""	"Mexico"	""	"0"	""	""	"Mexican"	""
"00059824"	""	""	""	"1"	""	"00015"	"{PMID:Mitchell 1991:1992472}"	""	""	""	"Algeria"	""	"0"	""	""	"Algerian"	""
"00059825"	""	""	""	"1"	""	"00015"	"{PMID:Doimo 2012:23076989}"	""	""	""	"Italy"	""	"0"	""	""	"Southern Italian"	""
"00059826"	""	""	""	"1"	""	"00015"	"{PMID:Doimo 2012:23076989}"	""	""	""	"Italy"	""	"0"	""	""	"Southern Italian"	""
"00059827"	""	""	""	"1"	""	"00015"	"{PMID:Doimo 2012:23076989}"	""	""	""	"Turkey"	""	"0"	""	""	""	""
"00059828"	""	""	""	"1"	""	"00015"	"{PMID:Doimo 2012:23076989}"	""	""	""	"Italy"	""	"0"	""	""	"Southern Italian"	""
"00059829"	""	""	""	"1"	""	"00015"	"{PMID:Doimo 2012:23076989}"	""	""	""	"Italy"	""	"0"	""	""	"Southern Italian"	""
"00059830"	""	""	""	"1"	""	"00015"	"{PMID:Doimo 2012:23076989}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"English"	""
"00059831"	""	""	""	"1"	""	"00015"	"{PMID:Michaud 1995:7887415}"	""	""	""	"Italy"	""	"0"	""	""	"Italian"	""
"00059832"	""	""	""	"1"	""	"00015"	"{PMID:Dietz 1993:8430317}"	""	""	""	""	""	"0"	""	""	""	""
"00059833"	""	""	""	"1"	""	"00015"	"{PMID:Sergouniotis 2012:22182799}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"English"	""
"00059834"	""	""	""	"1"	""	"00015"	"{PMID:Sergouniotis 2012:22182799}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00060097"	""	""	""	"1"	""	"00235"	""	""	""	""	"Greece"	""	"0"	""	""	"Greece"	""
"00060098"	""	""	""	"1"	""	"00235"	""	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"England"	""
"00060099"	""	""	""	"1"	""	"00235"	""	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"England"	""
"00060100"	""	""	""	"1"	""	"00235"	""	""	""	""	""	""	"0"	""	""	"white"	""
"00060118"	""	""	""	"1"	""	"00015"	"{PMID:Park 1992:1301936}"	"1 familie, 1 patient"	""	""	""	""	"0"	""	""	""	""
"00060121"	""	""	""	"1"	""	"00015"	"{PMID:Mashima 1992:1609808}"	""	""	""	"England;Germany"	""	"0"	""	""	""	"Pat3"
"00060122"	""	""	""	"1"	""	"00015"	"{PMID:Mashima 1992:1609808}"	""	""	""	"Ireland;Italy;Netherlands"	""	"0"	""	""	"European"	"Pat4"
"00060123"	""	""	""	"1"	""	"00015"	"{PMID:Michaud 1992:1612597}"	"1 familie, 1 patient"	""	""	""	""	"0"	""	""	""	""
"00060124"	""	""	""	"1"	""	"00015"	"{PMID:Michaud 1992:1612597}"	"1 familie, 1 patient"	""	""	""	""	"0"	""	""	""	""
"00060125"	""	""	""	"1"	""	"00015"	"{PMID:Akaki 1992:1618792}, {PMID:Mashima 1992:1609808}"	"2-generation family, 1 affected"	""	""	"England;France;Germany;Netherlands"	""	"0"	""	""	"Europe"	"patient;Pat2"
"00060126"	""	""	""	"1"	""	"00015"	"{PMID:Brody 1992:1737786}"	"1 familie, 1 patient"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"English"	""
"00060127"	""	""	""	"1"	""	"00015"	"{PMID:Brody 1992:1737786}"	"1 familie, 1 patient"	""	""	""	""	"0"	""	""	""	""
"00060128"	""	""	""	"1"	""	"00015"	"{PMID:Brody 1992:1737786}"	"1 familie, 1 patient"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"English"	""
"00060129"	""	""	""	"1"	""	"00015"	"{PMID:Brody 1992:1737786}"	"1 familie, 1 patient"	""	""	"Spain"	""	"0"	""	""	"Spanish"	""
"00060130"	""	""	""	"1"	""	"00015"	"{PMID:Brody 1992:1737786}"	"1 familie, 1 patient"	""	""	""	""	"0"	""	""	""	""
"00060131"	""	""	""	"1"	""	"00015"	"{PMID:Brody 1992:1737786}"	"1 familie, 1 patient"	""	""	"Finland"	""	"0"	""	""	"Finnish"	""
"00060132"	""	""	""	"1"	""	"00015"	"{PMID:Brody 1992:1737786}"	"1 familie, 1 patient"	""	""	""	""	"0"	""	""	"German/Italian"	""
"00060133"	""	""	""	"1"	""	"00015"	"{PMID:Brody 1992:1737786}"	"1 familie, 1 patient"	""	""	""	""	"0"	""	""	"Welsh"	""
"00060134"	""	""	""	"1"	""	"00015"	"{PMID:Brody 1992:1737786}"	"1 familie, 1 patient"	""	""	"Portugal"	""	"0"	""	""	"Portugese"	""
"00060135"	""	""	""	"1"	""	"00015"	"{PMID:Brody 1992:1737786}"	"1 familie, 1 patient"	""	""	""	""	"0"	""	""	"German/Italian"	""
"00060136"	""	""	""	"1"	""	"00015"	"{PMID:Brody 1992:1737786}"	"1 familie, 1 patient"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"English"	""
"00060137"	""	""	""	"1"	""	"00015"	"{PMID:Brody 1992:1737786}"	"1 familie, 1 patient"	""	""	""	""	"0"	""	""	"Jewish-Ashkenazi"	""
"00060138"	""	""	""	"1"	""	"00015"	"{PMID:Brody 1992:1737786}"	"1 familie, 1 patient"	""	""	""	""	"0"	""	""	"Hispanic (Nicaraguan)"	""
"00060139"	""	""	""	"1"	""	"00015"	"{PMID:Mashima 1996:8670789}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00060140"	""	""	""	"1"	""	"00015"	"{PMID:Mashima 1996:8670789}"	""	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00060141"	""	""	""	"1"	""	"00015"	"{PMID:Park 1992:1427882}"	""	""	""	""	""	"0"	""	""	""	""
"00060142"	""	""	""	"2"	""	"00015"	"{PMID:Mashima 1992:1487247}"	"2-generation family, 2 affected sisters"	"F"	""	"United States"	""	"0"	""	""	""	""
"00060143"	""	""	""	"1"	""	"00015"	"{PMID:McClatchey 1990:2220818}"	""	""	""	""	""	"0"	""	""	"Danish/Swedish"	""
"00060144"	""	""	""	"1"	""	"00015"	"{PMID:Renner et al.2012:22674428}"	""	""	""	"Germany"	""	"0"	""	""	"German"	""
"00060145"	""	""	""	"1"	""	"00015"	"{PMID:Doimo 2012:23076989}"	""	""	""	"Italy"	""	"0"	""	""	"Southern Italian"	""
"00060146"	""	""	""	"1"	""	"00015"	"{PMID:Doimo 2012:23076989}"	""	""	""	"Italy"	""	"0"	""	""	"Southern Italian"	""
"00060147"	""	""	""	"1"	""	"00015"	"{PMID:Doimo 2012:23076989}"	""	""	""	"Greece"	""	"0"	""	""	""	""
"00060148"	""	""	""	"1"	""	"00015"	"{PMID:Doimo 2012:23076989}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"English"	""
"00060149"	""	""	""	"1"	""	"00015"	"{PMID:Michaud 1995:7887415}"	""	""	""	"Australia"	""	"0"	""	""	"Australian"	""
"00060150"	""	""	""	"1"	""	"00015"	"{PMID:Dietz 1993:8430317}"	""	""	""	""	""	"0"	""	""	""	""
"00060151"	""	""	""	"1"	""	"00015"	"{PMID:Sergouniotis 2012:22182799}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"English"	""
"00060152"	""	""	""	"1"	""	"00015"	"{PMID:Sergouniotis 2012:22182799}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"English"	""
"00060153"	""	""	""	"1"	""	"00015"	"{PMID:Sergouniotis 2012:22182799}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"English"	""
"00060154"	""	""	""	"1"	""	"00015"	"{PMID:Sergouniotis 2012:22182799}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"English"	""
"00060155"	""	""	""	"1"	""	"00015"	"{PMID:Sergouniotis 2012:22182799}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"English"	""
"00060156"	""	""	""	"1"	""	"00015"	"{PMID:Inana 1989:2793865}"	"1 familie, 1 patient"	""	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00144157"	""	""	""	"1"	""	"01780"	"{PMID:Katagiri 2014:25268133}"	"index patient"	"M"	"no"	"Japan"	""	"0"	""	""	"Japanese"	""
"00289999"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00290000"	""	""	""	"91"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00304232"	""	""	""	"3"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00309268"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309269"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309270"	""	""	""	"2"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"2 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00328499"	""	""	""	"1"	""	"00000"	"{PMID:Taylor 2017:28341476}"	"no family history retinal disease"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"15017100"
"00334277"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"944"
"00335226"	""	""	""	"1"	""	"00000"	"{PMID:Riera 2017:28181551}"	"patient"	""	""	"Spain"	""	"0"	""	""	""	"Fi15/10"
"00388562"	""	""	""	"1"	""	"00000"	"{PMID:Dineiro 2020:32483926}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"OFTALMO.022"
"00389317"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 217, unclassified / mixed, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"601"
"00392259"	""	""	""	"1"	""	"00000"	"{PMID:Bell 2021:33494148}"	""	"F"	"no"	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"4"
"00393474"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00417538"	""	""	""	"1"	""	"00000"	"{PMID:Mitchell 1988:3339136}"	"sibling pair 1, individual 7"	"F"	""	"Lebanon"	""	"0"	""	""	"Lebanese Maronite"	"7"
"00417539"	""	""	""	"1"	""	"00000"	"{PMID:Mitchell 1988:3339136}"	"sibling pair 1, individual 16"	"M"	""	"Lebanon"	""	"0"	""	""	"Lebanese Maronite"	"16"
"00417540"	""	""	""	"1"	""	"00000"	"{PMID:Mitchell 1988:3339136}"	"sibling pair 2, individual 25"	"F"	""	"Lebanon"	""	"0"	""	""	"Lebanese Maronite"	"25"
"00417541"	""	""	""	"1"	""	"00000"	"{PMID:Mitchell 1988:3339136}"	"sibling pair 2, individual 26"	"M"	""	"Lebanon"	""	"0"	""	""	"Lebanese Maronite"	"26"
"00417542"	""	""	""	"1"	""	"00000"	"{PMID:Hotta 1989:2916581}"	""	"M"	""	""	""	"0"	""	""	"English"	"3"
"00417570"	""	""	""	"1"	""	"00000"	"{PMID:Inana 1988:3417397}"	"also patients 14, 15, 36 and 37 tested, but not sequenced, so no variants found"	""	""	""	""	"0"	""	""	""	"35"
"00417583"	""	""	""	"1"	""	"00000"	"{PMID:Mashima 1999:10617919}"	"sibship 1, patient 1"	"F"	""	""	""	"0"	""	""	"English/German/Scottish"	"patient 1"
"00417584"	""	""	""	"1"	""	"00000"	"{PMID:Mashima 1999:10617919}"	"sibship 1, patient 2"	"F"	""	""	""	"0"	""	""	"English/German/Scottish"	"patient 2"
"00417585"	""	""	""	"1"	""	"00000"	"{PMID:Mashima 1999:10617919}"	""	"F"	""	""	""	"0"	""	""	"English/Scottish/Czech"	"patient 3"
"00417586"	""	""	""	"1"	""	"00000"	"{PMID:Mashima 1999:10617919}"	"patient 4 (patient 6 in Weleber et al., 1982 and Shih et al., 1988)"	"F"	""	""	""	"0"	""	""	"Irish"	"patient 4"
"00417588"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"M"	""	""	""	"0"	""	""	""	"1"
"00417589"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"F"	""	""	""	"0"	""	""	""	"2"
"00417590"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"M"	""	""	""	"0"	""	""	""	"3"
"00417591"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"F"	""	""	""	"0"	""	"guanidinoacetic acid supplementation"	""	"4"
"00417592"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"F"	""	""	""	"0"	""	""	""	"5"
"00417593"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"M"	""	""	""	"0"	""	""	""	"6"
"00417594"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"F"	""	""	""	"0"	""	"guanidinoacetic acid supplementation"	""	"7"
"00417595"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"M"	""	""	""	"0"	""	""	""	"8"
"00417596"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"F"	""	""	""	"0"	""	"guanidinoacetic acid supplementation"	""	"9"
"00417597"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"F"	""	""	""	"0"	""	""	""	"10"
"00417598"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"F"	""	""	""	"0"	""	"guanidinoacetic acid supplementation"	""	"11"
"00417599"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"M"	""	""	""	"0"	""	"guanidinoacetic acid supplementation"	""	"12"
"00417600"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"M"	""	""	""	"0"	""	""	""	"13"
"00417601"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"F"	""	""	""	"0"	""	""	""	"14"
"00417602"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"M"	""	""	""	"0"	""	""	""	"15"
"00417603"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"M"	""	""	""	"0"	""	""	""	"16"
"00417604"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"F"	""	""	""	"0"	""	""	""	"17"
"00417605"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"M"	""	""	""	"0"	""	""	""	"18"
"00417606"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"F"	""	""	""	"0"	""	""	""	"19"
"00417607"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"M"	""	""	""	"0"	""	"creatine supplementation"	""	"20"
"00417608"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"M"	""	""	""	"0"	""	""	""	"21"
"00417609"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"M"	""	""	""	"0"	""	""	""	"22"
"00417610"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"M"	""	""	""	"0"	""	""	""	"23"
"00417611"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"M"	""	""	""	"0"	""	"creatine supplementation"	""	"24"
"00417612"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"M"	""	""	""	"0"	""	"creatine supplementation"	""	"25"
"00417613"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"F"	""	""	""	"0"	""	""	""	"26"
"00417614"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"F"	""	""	""	"0"	""	"creatine supplementation"	""	"27"
"00417615"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"F"	""	""	""	"0"	""	""	""	"28"
"00417616"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"F"	""	""	""	"0"	""	""	""	"29"
"00417617"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"M"	""	""	""	"0"	""	""	""	"30"
"00417618"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"F"	""	""	""	"0"	""	""	""	"31"
"00417619"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"F"	""	""	""	"0"	""	""	""	"32"
"00417620"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"M"	""	""	""	"0"	""	""	""	"33"
"00417621"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"F"	""	""	""	"0"	""	""	""	"34"
"00417622"	""	""	""	"1"	""	"00000"	"{PMID:Peltola 2001:11297489}"	""	"M"	""	""	""	"0"	""	""	""	"35"
"00417623"	""	""	""	"1"	""	"00000"	"{PMID:Howden 2011:21464322}"	"cell line experiments, obtaining patient-specific iPS cells"	""	""	""	""	"0"	""	""	""	"1"
"00417629"	""	""	""	"1"	""	"00000"	"{PMID:Kim 2013:24082780}"	"identical twin 1"	"F"	""	""	""	"0"	""	"B6 (pyridoxine) 300 mg daily and an arginine-restricted diet"	""	"older twin"
"00417630"	""	""	""	"1"	""	"00000"	"{PMID:Kim 2013:24082780}"	"identical twin 2"	"F"	""	""	""	"0"	""	"B6 (pyridoxine) 300 mg daily and an arginine-restricted diet"	""	"younger twin"
"00417646"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2014:24429551}"	"family JU#0213, individual II-1, brother of II-2"	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"II-1 (JU#0213)"
"00417647"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2014:24429551}"	"family JU#0213, individual II-2, brother of II-1"	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	"II-2 (JU#0213)"
"00417668"	""	""	""	"1"	""	"00000"	"{PMID:Heller 2017:28388263}"	""	"F"	""	"Israel"	""	"0"	""	""	"Syrian Jewish"	"Family-A proband"
"00417669"	""	""	""	"1"	""	"00000"	"{PMID:Heller 2017:28388263}"	""	"M"	""	"Israel"	""	"0"	""	""	"Ashkenazi Jewish"	"Family-B proband"
"00417677"	""	""	""	"1"	""	"00000"	"{PMID:Casalino 2018:29654911}"	""	"M"	""	"Italy"	""	"0"	""	"arginine-restricted diet with pyridoxine (vitamin B6; 500 mg daily)"	"Italian"	"?"
"00417680"	""	""	""	"1"	""	"00000"	"{PMID:Cui 2018:29757052}"	"parents first cousins"	"F"	"yes"	"Honduras"	""	"0"	""	""	""	"?"
"00417681"	""	""	""	"1"	""	"00000"	"{PMID:Montioli 2018:30251682}"	"cell line experiment, HEK293 cells"	""	""	""	""	"0"	""	""	""	"?"
"00417682"	""	""	""	"1"	""	"00000"	"{PMID:Zekusic 2018:30429681}"	""	"F"	"no"	"Croatia (Hrvatska)"	""	"0"	""	""	"Croatian"	"?"
"00417692"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2018:30366948}"	"parents first cousins; proband, sister of IV:2"	"F"	"yes"	"China"	""	"0"	""	""	"Chinese"	"IV:1"
"00417693"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2018:30366948}"	"parents first cousins; sister of IV:1"	"F"	"yes"	"China"	""	"0"	""	""	"Chinese"	"IV:2"
"00418720"	""	""	""	"1"	""	"00006"	"{PMID:Mashima 1992:1609808}"	"adopted"	""	""	"Canada"	""	"0"	""	""	""	"Pat1"
"00426901"	""	""	""	"1"	""	"00000"	"{PMID:Zhu 2022:35456422}"	"family 3, individual 4"	"F"	""	""	""	"0"	""	""	""	"3_4"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 160
"{{individualid}}"	"{{diseaseid}}"
"00050476"	"00198"
"00059780"	"01985"
"00059781"	"01985"
"00059782"	"01985"
"00059783"	"01985"
"00059784"	"01985"
"00059785"	"01985"
"00059786"	"01985"
"00059798"	"01985"
"00059799"	"01985"
"00059800"	"01985"
"00059801"	"01985"
"00059802"	"01985"
"00059803"	"01985"
"00059804"	"01985"
"00059805"	"01985"
"00059806"	"01985"
"00059807"	"01985"
"00059808"	"01985"
"00059809"	"01985"
"00059810"	"01985"
"00059811"	"01985"
"00059812"	"01985"
"00059813"	"01985"
"00059814"	"01985"
"00059815"	"01985"
"00059816"	"01985"
"00059817"	"01985"
"00059818"	"01985"
"00059819"	"01985"
"00059820"	"01985"
"00059821"	"01985"
"00059822"	"01985"
"00059823"	"01985"
"00059824"	"01985"
"00059825"	"01985"
"00059826"	"01985"
"00059827"	"01985"
"00059828"	"01985"
"00059829"	"01985"
"00059830"	"01985"
"00059831"	"01985"
"00059832"	"01985"
"00059833"	"01985"
"00059834"	"01985"
"00060097"	"01985"
"00060098"	"01985"
"00060099"	"01985"
"00060100"	"01985"
"00060118"	"01985"
"00060121"	"01985"
"00060122"	"01985"
"00060123"	"01985"
"00060124"	"01985"
"00060125"	"01985"
"00060126"	"01985"
"00060127"	"01985"
"00060128"	"01985"
"00060129"	"01985"
"00060130"	"01985"
"00060131"	"01985"
"00060132"	"01985"
"00060133"	"01985"
"00060134"	"01985"
"00060135"	"01985"
"00060136"	"01985"
"00060137"	"01985"
"00060138"	"01985"
"00060139"	"01985"
"00060140"	"01985"
"00060141"	"01985"
"00060142"	"01985"
"00060143"	"01985"
"00060144"	"01985"
"00060145"	"01985"
"00060146"	"01985"
"00060147"	"01985"
"00060148"	"01985"
"00060149"	"01985"
"00060150"	"01985"
"00060151"	"01985"
"00060152"	"01985"
"00060153"	"01985"
"00060154"	"01985"
"00060155"	"01985"
"00060156"	"01985"
"00144157"	"04214"
"00289999"	"00198"
"00290000"	"00198"
"00304232"	"00198"
"00309268"	"04214"
"00309269"	"04214"
"00309270"	"04214"
"00328499"	"04214"
"00334277"	"04214"
"00335226"	"04214"
"00388562"	"04214"
"00389317"	"04214"
"00392259"	"04214"
"00393474"	"04214"
"00417538"	"01985"
"00417539"	"01985"
"00417540"	"01985"
"00417541"	"01985"
"00417542"	"01985"
"00417570"	"01985"
"00417583"	"01985"
"00417584"	"01985"
"00417585"	"01985"
"00417586"	"01985"
"00417588"	"01985"
"00417589"	"01985"
"00417590"	"01985"
"00417591"	"01985"
"00417592"	"01985"
"00417593"	"01985"
"00417594"	"01985"
"00417595"	"01985"
"00417596"	"01985"
"00417597"	"01985"
"00417598"	"01985"
"00417599"	"01985"
"00417600"	"01985"
"00417601"	"01985"
"00417602"	"01985"
"00417603"	"01985"
"00417604"	"01985"
"00417605"	"01985"
"00417606"	"01985"
"00417607"	"01985"
"00417608"	"01985"
"00417609"	"01985"
"00417610"	"01985"
"00417611"	"01985"
"00417612"	"01985"
"00417613"	"01985"
"00417614"	"01985"
"00417615"	"01985"
"00417616"	"01985"
"00417617"	"01985"
"00417618"	"01985"
"00417619"	"01985"
"00417620"	"01985"
"00417621"	"01985"
"00417622"	"01985"
"00417623"	"01985"
"00417629"	"01985"
"00417630"	"01985"
"00417646"	"01985"
"00417647"	"01985"
"00417668"	"01985"
"00417669"	"01985"
"00417677"	"01985"
"00417680"	"01985"
"00417681"	"01985"
"00417682"	"01985"
"00417692"	"01985"
"00417693"	"01985"
"00418720"	"01985"
"00426901"	"04214"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 01985, 04214
## Count = 156
"{{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}}"
"0000037088"	"00198"	"00050476"	"00006"	"Unknown"	""	"clinodactyly of the 5th finger, specific learning disability, joint hypermobility, lumbar hyperlordosis, gingival overgrowth"	""	""	""	""	""	""	""	""	""	""	""
"0000046272"	"01985"	"00059780"	"00235"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046273"	"01985"	"00059781"	"00235"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046274"	"01985"	"00059782"	"00235"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046275"	"01985"	"00059783"	"00235"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046276"	"01985"	"00059784"	"00235"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046277"	"01985"	"00059785"	"00235"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046278"	"01985"	"00059786"	"00235"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046290"	"01985"	"00059798"	"00015"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046291"	"01985"	"00059799"	"00015"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046292"	"01985"	"00059800"	"00015"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046293"	"01985"	"00059801"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046294"	"01985"	"00059802"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046295"	"01985"	"00059803"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046296"	"01985"	"00059804"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046297"	"01985"	"00059805"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046298"	"01985"	"00059806"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046299"	"01985"	"00059807"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046300"	"01985"	"00059808"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046301"	"01985"	"00059809"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046302"	"01985"	"00059810"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046303"	"01985"	"00059811"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046304"	"01985"	"00059812"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046305"	"01985"	"00059813"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046306"	"01985"	"00059814"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046307"	"01985"	"00059815"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046308"	"01985"	"00059816"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046309"	"01985"	"00059817"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046310"	"01985"	"00059818"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046311"	"01985"	"00059819"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046312"	"01985"	"00059820"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046313"	"01985"	"00059821"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046314"	"01985"	"00059822"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046315"	"01985"	"00059823"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046316"	"01985"	"00059824"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046317"	"01985"	"00059825"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046318"	"01985"	"00059826"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046319"	"01985"	"00059827"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046320"	"01985"	"00059828"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046321"	"01985"	"00059829"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046322"	"01985"	"00059830"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046323"	"01985"	"00059831"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046324"	"01985"	"00059832"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046325"	"01985"	"00059833"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046326"	"01985"	"00059834"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046587"	"01985"	"00060097"	"00235"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046588"	"01985"	"00060098"	"00235"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046589"	"01985"	"00060099"	"00235"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046590"	"01985"	"00060100"	"00235"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046608"	"01985"	"00060118"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046611"	"01985"	"00060121"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046612"	"01985"	"00060122"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046613"	"01985"	"00060123"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046614"	"01985"	"00060124"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046615"	"01985"	"00060125"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046616"	"01985"	"00060126"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046617"	"01985"	"00060127"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046618"	"01985"	"00060128"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046619"	"01985"	"00060129"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046620"	"01985"	"00060130"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046621"	"01985"	"00060131"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046622"	"01985"	"00060132"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046623"	"01985"	"00060133"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046624"	"01985"	"00060134"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046625"	"01985"	"00060135"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046626"	"01985"	"00060136"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046627"	"01985"	"00060137"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046628"	"01985"	"00060138"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046629"	"01985"	"00060139"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046630"	"01985"	"00060140"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046631"	"01985"	"00060141"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046632"	"01985"	"00060142"	"00015"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046633"	"01985"	"00060143"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046634"	"01985"	"00060144"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046635"	"01985"	"00060145"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046636"	"01985"	"00060146"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046637"	"01985"	"00060147"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046638"	"01985"	"00060148"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046639"	"01985"	"00060149"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046640"	"01985"	"00060150"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046641"	"01985"	"00060151"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046642"	"01985"	"00060152"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046643"	"01985"	"00060153"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046644"	"01985"	"00060154"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046645"	"01985"	"00060155"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000046646"	"01985"	"00060156"	"00015"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000116935"	"04214"	"00144157"	"01780"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234588"	"04214"	"00309268"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"gyrate atrophy"	""
"0000234589"	"04214"	"00309269"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"gyrate atrophy"	""
"0000234590"	"04214"	"00309270"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"gyrate atrophy"	""
"0000246725"	"04214"	"00328499"	"00000"	"Familial, autosomal recessive"	"8y"	"chorioretinal dystrophy (HP:0001135)"	""	""	""	""	""	""	""	""	""	"chorioretinal dystrophy"	""
"0000252462"	"04214"	"00334277"	"00000"	"Familial, autosomal recessive"	"7y"	"clinical category IIIA2"	""	""	""	""	""	""	""	""	""	"gyrate atrophy"	""
"0000252941"	"04214"	"00335226"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"gyrate atrophy"	""
"0000282102"	"04214"	"00388562"	"00000"	"Isolated (sporadic)"	""	"Non‐syndrom"	""	"27y"	""	""	""	""	""	""	"Gyrate atrophy of choroid and retina with or without ornithinemia"	"Retinitis pigmentosa"	""
"0000282858"	"04214"	"00389317"	"00000"	"Familial, autosomal recessive"	"33y"	"age at genetic diagnosis mentioned"	""	"29y"	""	""	""	""	""	""	"unclassified / mixed"	""	""
"0000285537"	"04214"	"00392259"	"00000"	"Familial, autosomal recessive"	"42y"	"Posterior subcapsular cataract, retinal dystrophy, exotropia"	""	"23y7m"	""	""	""	""	""	""	"Gyrate atrophy of choroid and retina"	""	""
"0000286680"	"04214"	"00393474"	"00000"	"Isolated (sporadic)"	"16y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000309018"	"01985"	"00417538"	"00000"	"Familial, autosomal recessive"	""	"whole cohort description: typical gyrate atrophy clinical presentation; plasma ornithine values on a normal diet were 745-876 umol/liter (normal, 75-25 umol/liter); fibroblast OAT activity undetectable (<1% of normal) by a radioisotopic assa"	""	""	""	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309019"	"01985"	"00417539"	"00000"	"Familial, autosomal recessive"	""	"whole cohort description: typical gyrate atrophy clinical presentation; plasma ornithine values on a normal diet were 745-876 umol/liter (normal, 75-25 umol/liter); fibroblast OAT activity undetectable (<1% of normal) by a radioisotopic assa"	""	""	""	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309020"	"01985"	"00417540"	"00000"	"Familial, autosomal recessive"	""	"whole cohort description: typical gyrate atrophy clinical presentation; plasma ornithine values on a normal diet were 745-876 umol/liter (normal, 75-25 umol/liter); fibroblast OAT activity undetectable (<1% of normal) by a radioisotopic assa"	""	""	""	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309021"	"01985"	"00417541"	"00000"	"Familial, autosomal recessive"	""	"whole cohort description: typical gyrate atrophy clinical presentation; plasma ornithine values on a normal diet were 745-876 umol/liter (normal, 75-25 umol/liter); fibroblast OAT activity undetectable (<1% of normal) by a radioisotopic assa"	""	""	""	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309022"	"01985"	"00417542"	"00000"	"Familial, autosomal recessive"	"40y"	"40y: visual acuity right, left eye: 20/40, 20/200; mild to moderate cataracts and maculopathy, both worse in the left eye; visual fields constricted to approximately 70deg of remaining field, measured horizontally; severity of disease was mild to moderate clinically; classified as a B6 nonresponder both by failure of serum ornithine levels to decrease after oral pyridoxine supplementation and by failure of pyridoxal phosphate to increase ornithine anminotransferase activity in vitro; clinical characteristics of the patient have been described in detail elsewhere (patient 4 of Weleber et al. [1982] and Weleber and Kennaway [1988])"	""	""	""	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309049"	"01985"	"00417570"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309054"	"01985"	"00417583"	"00000"	"Familial, autosomal recessive"	""	"pyridoxine HCI mg/day 0; serum omithine mg/day: 0.64 +/- 0.17; pyridoxine HCI mg/day 750; serum omithine mg/day: 0.34 +/- 0.10; OAT activity (nmol/mg protein/h): 14 +/- 5; skin fibroblasts incorporation of radioactivity from 3H-ornithine into protein (DPM/ug protein): no pyridoxine in medium: 54 +/- 20; 1.0mg/l pyridoxine in medium: 233 +/- 62; skin fibroblasts Km pyridoxal phosphate: 0.15; skin fibroblasts estimated OAT mRNA level (%):  100"	""	""	""	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309055"	"01985"	"00417584"	"00000"	"Familial, autosomal recessive"	""	"pyridoxine HCI mg/day 0; serum omithine mg/day: 0.57 +/- 0.02; pyridoxine HCI mg/day 600-750; serum omithine mg/day: 0.25 +/- 0.01; OAT activity (nmol/mg protein/h): 18+/- 4; skin fibroblasts incorporation of radioactivity from 3H-ornithine into protein (DPM/ug protein): no pyridoxine in medium: 31 +/- 11; 1.0mg/l pyridoxine in medium: 268 +/- 34; skin fibroblasts Km pyridoxal phosphate: 0.13; skin fibroblasts estimated OAT mRNA level (%):  100"	""	""	""	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309056"	"01985"	"00417585"	"00000"	"Familial, autosomal recessive"	""	"pyridoxine HCI mg/day 0; serum omithine mg/day: 0.77 +/- 0.08; pyridoxine HCI mg/day 600-750; serum omithine mg/day: 0.34 +/- 0.07; OAT activity (nmol/mg protein/h): 21 +/- 8; skin fibroblasts incorporation of radioactivity from 3H-ornithine into protein (DPM/ug protein): no pyridoxine in medium: 74+/- 29; 1.0mg/l pyridoxine in medium: 237 +/- 33; skin fibroblasts Km pyridoxal phosphate: 0.08; skin fibroblasts estimated OAT mRNA level (%):  50"	""	""	""	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309057"	"01985"	"00417586"	"00000"	"Familial, autosomal recessive"	""	"pyridoxine HCI mg/day 0; serum omithine mg/day: 0.53 +/- 0.08;  not available for the clinical trial of pyridoxine supplementation; OAT activity (nmol/mg protein/h): 48 +/- 12; skin fibroblasts incorporation of radioactivity from 3H-ornithine into protein (DPM/ug protein): no pyridoxine in medium: 76 +/- 9; 1.0mg/l pyridoxine in medium: 482 +/- 91; skin fibroblasts Km pyridoxal phosphate: 0.31; skin fibroblasts estimated OAT mRNA level (%):  100"	""	""	""	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309058"	"01985"	"00417588"	"00000"	"Familial, autosomal recessive"	"5y"	"age when first spectacles were ordered: y; plasma ornithine concentration (um): 1696; best corrected visual acuity right/left eye: 0.8 / 0.8; refraction right / left eye:  0 / 0; fundus findings right / left eye: papilla: normal / normal; macula: normal / normal; vessels: pathologic / pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: peripheral atrophy / peripheral atrophy"	""	"1m"	"myopia"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309059"	"01985"	"00417589"	"00000"	"Familial, autosomal recessive"	"5y"	"age when first spectacles were ordered: 4y; plasma ornithine concentration (um): 871; best corrected visual acuity right/left eye:  / ; refraction right / left eye:  -2.5 / -2.5; fundus findings right / left eye: papilla: normal / normal; macula: normal / normal; vessels: normal / normal; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: peripheral atrophy / peripheral atrophy"	""	"4y"	"myopia, night blindness"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309060"	"01985"	"00417590"	"00000"	"Familial, autosomal recessive"	"6y"	"age when first spectacles were ordered: 3y; plasma ornithine concentration (um): 183; best corrected visual acuity right/left eye: 0.4 / 0.6; refraction right / left eye:  -4 / -5; fundus findings right / left eye: papilla: severely pathologic / severely pathologic; macula: pathologic / pathologic; vessels: pathologic / pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: midperipheral atrophy / peripheral atrophy"	""	"4y"	"night blindness"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309061"	"01985"	"00417591"	"00000"	"Familial, autosomal recessive"	"6y"	"age when first spectacles were ordered: 6y; plasma ornithine concentration (um): 2601; best corrected visual acuity right/left eye:  / ; refraction right / left eye:  -3.5 / -3.5; fundus findings right / left eye: papilla: normal / normal; macula: normal / normal; vessels: pathologic / pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: midperipheral atrophy / midperipheral atrophy"	""	"5y"	"no symptoms"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309062"	"01985"	"00417592"	"00000"	"Familial, autosomal recessive"	"7y"	"age when first spectacles were ordered: 6y; plasma ornithine concentration (um): 678; best corrected visual acuity right/left eye: 0.4 / 0.15; refraction right / left eye:  -2.75 / -2.5; fundus findings right / left eye: papilla: normal / normal; macula: severely pathologic / severely pathologic; vessels: pathologic / pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: midperipheral atrophy / peripheral atrophy"	""	"7y"	"myopia, night blindness"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309063"	"01985"	"00417593"	"00000"	"Familial, autosomal recessive"	"13y"	"age when first spectacles were ordered: 6y; plasma ornithine concentration (um): 1050; best corrected visual acuity right/left eye: 0.4 / 0.4; refraction right / left eye:  -7.5 / -6.25; fundus findings right / left eye: papilla: normal / pathologic; macula: normal / normal; vessels: normal / normal; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: midperipheral atrophy / midperipheral atrophy"	""	"8y"	"night blindness"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309064"	"01985"	"00417594"	"00000"	"Familial, autosomal recessive"	"13y"	"age when first spectacles were ordered: 3y; plasma ornithine concentration (um): 800; best corrected visual acuity right/left eye: 0.7 / 0.7; refraction right / left eye:  -19.5 / -19; fundus findings right / left eye: papilla: normal / normal; macula: severely pathologic / severely pathologic; vessels: pathologic / pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: midperipheral atrophy / midperipheral atrophy"	""	"6y"	"myopia, night blindness"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309065"	"01985"	"00417595"	"00000"	"Familial, autosomal recessive"	"14y"	"age when first spectacles were ordered: 11y; plasma ornithine concentration (um): 1041; best corrected visual acuity right/left eye: 0.7 / 0.7; refraction right / left eye:  -0.5 / 0; fundus findings right / left eye: papilla: normal / normal; macula: normal / pathologic; vessels: normal / normal; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: peripheral atrophy / peripheral atrophy"	""	"14y"	"myopia, night blindness"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309066"	"01985"	"00417596"	"00000"	"Familial, autosomal recessive"	"15y"	"age when first spectacles were ordered: 8y; plasma ornithine concentration (um): 1005; best corrected visual acuity right/left eye: 0.4 / 0.9; refraction right / left eye:  -11.25 / -11.25; fundus findings right / left eye: papilla: normal / pathologic; macula: normal / normal; vessels: normal / normal; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: peripheral atrophy / peripheral atrophy"	""	"12y"	"myopia"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309067"	"01985"	"00417597"	"00000"	"Familial, autosomal recessive"	"17y"	"age when first spectacles were ordered: 6y; plasma ornithine concentration (um): 797; best corrected visual acuity right/left eye: 0.2 / 0.3; refraction right / left eye:  -13.5 / -13.5; fundus findings right / left eye: papilla: pathologic / severely pathologic; macula: pathologic / pathologic; vessels: pathologic / pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: peripheral atrophy / peripheral atrophy"	""	"6y"	"night blindness"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309068"	"01985"	"00417598"	"00000"	"Familial, autosomal recessive"	"20y"	"age when first spectacles were ordered: 6y; plasma ornithine concentration (um): 794; best corrected visual acuity right/left eye: 0.3 / 0.3; refraction right / left eye:  -2.25 / -2.5; fundus findings right / left eye: papilla: pathologic / normal; macula: normal / normal; vessels: pathologic / pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: midperipheral atrophy / midperipheral atrophy"	""	"10y"	"myopia"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309069"	"01985"	"00417599"	"00000"	"Familial, autosomal recessive"	"21y"	"age when first spectacles were ordered: 6y; plasma ornithine concentration (um): 663; best corrected visual acuity right/left eye: 0.7 / 0.6; refraction right / left eye:  -9 / -11.25; fundus findings right / left eye: papilla: normal / pathologic; macula: normal / normal; vessels: severely pathologic / severely pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: peripheral atrophy / peripheral atrophy"	""	"9y"	"myopia"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309070"	"01985"	"00417600"	"00000"	"Familial, autosomal recessive"	"26y"	"age when first spectacles were ordered: 7y; plasma ornithine concentration (um): 884; best corrected visual acuity right/left eye: 0.2 / 0.2; refraction right / left eye:  -16 / -16.5; fundus findings right / left eye: papilla: severely pathologic / severely pathologic; macula: pathologic / pathologic; vessels: severely pathologic / severely pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: midperipheral atrophy / midperipheral atrophy"	""	"27y"	"myopia"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309071"	"01985"	"00417601"	"00000"	"Familial, autosomal recessive"	"31y"	"age when first spectacles were ordered: 4y; plasma ornithine concentration (um): 881; best corrected visual acuity right/left eye: 0.2 / 0.2; refraction right / left eye:  -1.25 / 0; fundus findings right / left eye: papilla: severely pathologic / severely pathologic; macula: severely pathologic / severely pathologic; vessels: severely pathologic / severely pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: midperipheral atrophy / central atrophy"	""	"26y"	"myopia, night blindness"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309072"	"01985"	"00417602"	"00000"	"Familial, autosomal recessive"	"32y"	"age when first spectacles were ordered: 5y; plasma ornithine concentration (um): 699; best corrected visual acuity right/left eye: 0.3 / 0.3; refraction right / left eye:  -1.5 / -1; fundus findings right / left eye: papilla: pathologic / pathologic; macula: pathologic / pathologic; vessels: severely pathologic / severely pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: central atrophy / central atrophy"	""	"10y"	"myopia, light sensitivity"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309073"	"01985"	"00417603"	"00000"	"Familial, autosomal recessive"	"34y"	"age when first spectacles were ordered: 7y; plasma ornithine concentration (um): 982; best corrected visual acuity right/left eye: 0.15 / 0.2; refraction right / left eye:  -11 / -11; fundus findings right / left eye: papilla: severely pathologic / severely pathologic; macula: severely pathologic / severely pathologic; vessels: severely pathologic / severely pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: central atrophy / central atrophy"	""	"18y"	"myopia, night blindness"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309074"	"01985"	"00417604"	"00000"	"Familial, autosomal recessive"	"36y"	"age when first spectacles were ordered: 7y; plasma ornithine concentration (um): 828; best corrected visual acuity right/left eye: cf (5 m) / 0.2                  -6               -8; refraction right / left eye:   / ; fundus findings right / left eye: papilla: pathologic / pathologic; macula: severely pathologic / severely pathologic; vessels: severely pathologic / severely pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: central atrophy / central atrophy"	""	"25y"	"myopia"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309075"	"01985"	"00417605"	"00000"	"Familial, autosomal recessive"	"37y"	"age when first spectacles were ordered: 6y; plasma ornithine concentration (um): 854; best corrected visual acuity right/left eye: 0.7 / 0.7                                 -10; refraction right / left eye:   / ; fundus findings right / left eye: papilla: normal / normal; macula: severely pathologic / severely pathologic; vessels: severely pathologic / severely pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: central atrophy / central atrophy"	""	"26y"	"myopia"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309076"	"01985"	"00417606"	"00000"	"Familial, autosomal recessive"	"39y"	"age when first spectacles were ordered: 6y; plasma ornithine concentration (um): 962; best corrected visual acuity right/left eye: 0.4 / 0.2; refraction right / left eye:  8 / 7.5; fundus findings right / left eye: papilla: pathologic / pathologic; macula: severely pathologic / severely pathologic; vessels: severely pathologic / severely pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: central atrophy / central atrophy"	""	"23y"	"myopia, light sensitivity"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309077"	"01985"	"00417607"	"00000"	"Familial, autosomal recessive"	"41y"	"age when first spectacles were ordered: 8y; plasma ornithine concentration (um): 793; best corrected visual acuity right/left eye: 0.2 / cf (3 m); refraction right / left eye:  7 / 10; fundus findings right / left eye: papilla: severely pathologic / pathologic; macula: pathologic / pathologic; vessels: pathologic / severely pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: central atrophy / central atrophy"	""	"20y"	"myopia, night blindness, light sensitivity"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309078"	"01985"	"00417608"	"00000"	"Familial, autosomal recessive"	"42y"	"age when first spectacles were ordered: 10y; plasma ornithine concentration (um): 1134; best corrected visual acuity right/left eye: 0.4 / 0.3; refraction right / left eye:  -4 / -3.5; fundus findings right / left eye: papilla: pathologic / pathologic; macula: normal / pathologic; vessels: severely pathologic / severely pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: central atrophy / central atrophy"	""	""	"night blindness"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309079"	"01985"	"00417609"	"00000"	"Familial, autosomal recessive"	"42y"	"age when first spectacles were ordered: 8y; plasma ornithine concentration (um): 1076; best corrected visual acuity right/left eye: 0.3 / 0.3; refraction right / left eye:  -2.25 / -1.75; fundus findings right / left eye: papilla: severely pathologic / pathologic; macula: pathologic / severely pathologic; vessels: severely pathologic / severely pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: central atrophy / central atrophy"	""	"15y"	"myopia"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309080"	"01985"	"00417610"	"00000"	"Familial, autosomal recessive"	"42y"	"age when first spectacles were ordered: 7y; plasma ornithine concentration (um): 1000; best corrected visual acuity right/left eye: 0.2 / 0.2; refraction right / left eye:  7 / -3; fundus findings right / left eye: papilla: severely pathologic / pathologic; macula: pathologic / severely pathologic; vessels: severely pathologic / pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: midperipheral atrophy / midperipheral atrophy"	""	"27y"	"myopia"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309081"	"01985"	"00417611"	"00000"	"Familial, autosomal recessive"	"42y"	"age when first spectacles were ordered: 6y; plasma ornithine concentration (um): 886; best corrected visual acuity right/left eye: 0.2 / 0.6; refraction right / left eye:  6 / 6.25; fundus findings right / left eye: papilla: severely pathologic / severely pathologic; macula: severely pathologic / severely pathologic; vessels: severely pathologic / severely pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: central atrophy / central atrophy"	""	"27y"	"night blindness"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309082"	"01985"	"00417612"	"00000"	"Familial, autosomal recessive"	"42y"	"age when first spectacles were ordered: 6y; plasma ornithine concentration (um): 931; best corrected visual acuity right/left eye: 0.8 / 0.4; refraction right / left eye:  5.5 / 6; fundus findings right / left eye: papilla: pathologic / pathologic; macula: pathologic / pathologic; vessels: severely pathologic / severely pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: central atrophy / central atrophy"	""	"19y"	"not known"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309083"	"01985"	"00417613"	"00000"	"Familial, autosomal recessive"	"43y"	"age when first spectacles were ordered: 17y; plasma ornithine concentration (um): 739; best corrected visual acuity right/left eye: 0.5 / 0.4; refraction right / left eye:  9 / -1.25; fundus findings right / left eye: papilla: normal / normal; macula: pathologic / pathologic; vessels: pathologic / severely pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: central atrophy / central atrophy"	""	"20y"	"night blindness"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309084"	"01985"	"00417614"	"00000"	"Familial, autosomal recessive"	"47y"	"age when first spectacles were ordered: 7y; plasma ornithine concentration (um): 1530; best corrected visual acuity right/left eye: lp / 0.15; refraction right / left eye:  blind / 5.25; fundus findings right / left eye: papilla: severely pathologic / severely pathologic; macula: severely pathologic / severely pathologic; vessels: severely pathologic / severely pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: central atrophy / central atrophy"	""	"32y"	"night blindness, light sensitivity"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309085"	"01985"	"00417615"	"00000"	"Familial, autosomal recessive"	"48y"	"age when first spectacles were ordered: 6y; plasma ornithine concentration (um): 731; best corrected visual acuity right/left eye: hand movement / 0.4; refraction right / left eye:  blind / 3.75; fundus findings right / left eye: papilla: severely pathologic / severely pathologic; macula: severely pathologic / severely pathologic; vessels: severely pathologic / severely pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: central atrophy / central atrophy"	""	"27y"	"myopia"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309086"	"01985"	"00417616"	"00000"	"Familial, autosomal recessive"	"50y"	"age when first spectacles were ordered: 27y; plasma ornithine concentration (um): 773; best corrected visual acuity right/left eye: 0.4 / 0.3; refraction right / left eye:  4.5 / 4; fundus findings right / left eye: papilla: severely pathologic / severely pathologic; macula: pathologic / normal; vessels: pathologic / pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: central atrophy / central atrophy"	""	"36y"	"myopia"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309087"	"01985"	"00417617"	"00000"	"Familial, autosomal recessive"	"51y"	"age when first spectacles were ordered: 7y; plasma ornithine concentration (um): 954; best corrected visual acuity right/left eye: 0.6 / 0.9; refraction right / left eye:  -3.5 / -7.9; fundus findings right / left eye: papilla: severely pathologic / pathologic; macula: normal / normal; vessels: severely pathologic / severely pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: midperipheral atrophy / peripheral atrophy"	""	"40y"	"myopia"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309088"	"01985"	"00417618"	"00000"	"Familial, autosomal recessive"	"53y"	"age when first spectacles were ordered: 21y; plasma ornithine concentration (um): 856; best corrected visual acuity right/left eye: 0.4 / 0.2; refraction right / left eye:  9 / 4; fundus findings right / left eye: papilla: severely pathologic / severely pathologic; macula: pathologic / pathologic; vessels: severely pathologic / severely pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: central atrophy / central atrophy"	""	"32y"	"myopia"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309089"	"01985"	"00417619"	"00000"	"Familial, autosomal recessive"	"54y"	"age when first spectacles were ordered: 11y; plasma ornithine concentration (um): 1223; best corrected visual acuity right/left eye: 0.1 / cf (5 m); refraction right / left eye:  -1 / -1.5; fundus findings right / left eye: papilla: severely pathologic / severely pathologic; macula: severely pathologic / severely pathologic; vessels: severely pathologic / severely pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: central atrophy / central atrophy"	""	"35y"	"myopia"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309090"	"01985"	"00417620"	"00000"	"Familial, autosomal recessive"	"59y"	"age when first spectacles were ordered: 10y; plasma ornithine concentration (um): 910; best corrected visual acuity right/left eye: 0.5 / 0.4; refraction right / left eye:  1.5 / 0.5; fundus findings right / left eye: papilla: severely pathologic / severely pathologic; macula: severely pathologic / severely pathologic; vessels: severely pathologic / severely pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: central atrophy / central atrophy"	""	"44y"	"myopia"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309091"	"01985"	"00417621"	"00000"	"Familial, autosomal recessive"	"74y"	"age when first spectacles were ordered: 10y; plasma ornithine concentration (um): 836; best corrected visual acuity right/left eye: lp / lp; refraction right / left eye:  blind / blind; fundus findings right / left eye: papilla: severely pathologic / severely pathologic; macula: severely pathologic / severely pathologic; vessels: normal / normal; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: central atrophy / central atrophy"	""	"53y"	"myopia, night blindness"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309092"	"01985"	"00417622"	"00000"	"Familial, autosomal recessive"	""	"age when first spectacles were ordered: nay; plasma ornithine concentration (um): 960; best corrected visual acuity right/left eye: 0.3 / 0.2; refraction right / left eye:   / ; fundus findings right / left eye: papilla: pathologic / pathologic; macula: severely pathologic / normal; vessels: severely pathologic / pathologic; atrophic changes in the fundus typical for gyrate atrophy of the choroid and retina: central atrophy / midperipheral atrophy"	""	""	""	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309093"	"01985"	"00417623"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309096"	"01985"	"00417629"	"00000"	"Familial, autosomal recessive"	"19y"	"older twin best-corrected visual acuity: 20 / 32 both eyes; refractive error right/left eye: -17.75 / -17.25 diopter; bilateral posterior subcapsular cataracts; fundus: bilateral severe chorioretinal atrophy involving the midperiphery; fluorescein angiography: leakage at the margin of chorioretinal atrophy and dye accumulation in the maculae of both eyes; cystoid macular edema evident in both eyes on optical coherence tomography; dynamic Goldmann perimetry: visual field constriction in both eyes; full-field electroretinogram: markedly impaired photopic and scotopic responses; amino acid analysis: markedly elevated plasma levels of ornithine (783 umol/l; normal range, 48 to 195 umol/l); tandem mass spectrometry: plasma ornithine levels of 380 umol/l (cutoff, 290 umol/l) ; treated with vitamin B6 (pyridoxine) 300 mg daily and an arginine-restricted diet, after three months, plasma ornithine levels measured by tandem mass spectrometry: 254 umol/l; visual acuity in each eye were preserved with no progression of chorioretinal atrophy on fundoscopy after 15 months, plasma ornithine levels: 386 umol/l"	""	""	"progressive night vision deterioration occurring over the past several years"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309097"	"01985"	"00417630"	"00000"	"Familial, autosomal recessive"	"19y"	"younger twin best-corrected visual acuity: 20 / 25, 20 / 32 right, left eye: refractive error right/left eye: -17.0 D / -16.0 D; fundoscopy: fluorescein angiography, optical coherence tomography, Goldmann perimetry and full-field electroretinogram findings similar to those of her older twin; plasma levels of ornithine on amino acids analysis and tandem mass spectrometry: 831 umol/l and 424 umol/l, respectively; treated with vitamin B6 (pyridoxine) 300 mg daily and an arginine-restricted diet, after three months, plasma ornithine levels measured by tandem mass spectrometry: 365 umol/l; visual acuity in each eye were preserved with no progression of chorioretinal atrophy on fundoscopy after 15 months, plasma ornithine levels: 408 umol/l"	""	""	"progressive night vision deterioration occurring over the past several years"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309099"	"01985"	"00417646"	"00000"	"Familial, autosomal recessive"	"23y"	"decimal best-corrected visual acuity right/left eye: 1.0/1.0; refraction: -2.50 diopters; sharply demarcated circular areas of chorioretinal atrophy in the entire peripheral retina in both eyes, and an extremely high serum ornithine concentration of 1,041 umol/l (normal range 47-72 umol/l); 7y visual fields: constricted in the I-4 isopters with preserved visual fields of the V-4 isopters in both eyes; 11y electroretinograms: 10y rod responses non-recordable, standard-combined and cone responses: markedly reduced; 11y: fluorescein angiography: hypofluorescence in the peripheral chorioretinal atrophic areas in both of his eyes, and a window defect near the macula in his right eye; comparisons with the visual fields obtained at 7y showed both the I-4 and V-4 isopters became more constricted at 17y; photographic montages of both retinas at 18y: extensive chorioretinal atrophy, with retinal pigment epithelium clumps in the entire periphery; time-domain optical coherence tomography: slight cystic changes in both macular areas; 23y best corrected visual acuity: 0.6 both eyes; mild posterior subcapsular cataracts in both eyes; funduscopic examination demonstrated that there a definite posterior expansion of the chorioretinal atrophy; fundus autofluorescence: loss of autofluorescence corresponding to the chorioretinal atrophic areas, and there ring shaped hyperautofluorescence around the macula in both eyes; spectral-domain optical coherence tomography: moderate cystoid spaces within the inner nucleus layer (INL) and marked thinning of the outer nuclear layer (ONL) with a few smaller cysts in both eyes, marked splitting of the INL in the temporal area of his right eye; 6y: tested for OAT activity using skin fibroblasts: concentrations of 20 or 400 uM of pyridoxal phosphate (an activated form of vitamin B6) resulted in a markedly lower OAT activity in the patient as compared to his father (I-1), his mother (I-2), and a control; received vitamin B6 supplementation but there was no reduction in the serum ornithine concentrations; 6y5m arginine-restricted diet: serum ornithine concentrations repeatedly increased and then decreased, even after being placed on the arginine-restricted diet, serum ornithine concentrations continued to be above the normal range;"	""	"6y"	""	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309100"	"01985"	"00417647"	"00000"	"Familial, autosomal recessive"	"17y"	"6m: serum ornithine concentration 145 umol/l; 2y8m: 952 umol/l; fundus: retinal degeneration in the superior peripheral area in both eyes; 4y: decimal best-corrected visual acuity right/left eye: 1.0/1.2; 7y: constricted visual fields of the I-4 and V-4 isopters; electroretinograms 10y: rod, standard-combined, cone, and 30-Hz flicker ERGs non-recordable; photographic montages at 12y: retinal degeneration similar to retinitis pigmentosa in the entire periphery of both eyes, chorioretinal atrophy at the superior retinal arcade in the right eye; time-domain optical coherence tomography: macular thinning; 17 y best-corrected visual acuity right/left eye: 0.7 / 0.9; no subcapsular cataract in either eye; funduscopic examination: definite posterior expansion of the chorioretinal atrophy; fundus autofluorescence: loss of autofluorescence in the peripheral chorioretinal atrophic areas and ring-shaped hyperautofluorescence around the macula in both eyes; spectral-domain optical coherence tomography moderate cystoid spaces within the inner nucleus layer (INL) and an abnormally thin outer nuclear layer with a few smaller cysts in both eyes; marked splitting of the INL in the temporal area of his left eye; compared to the findings obtained at 7y the visual fields of both the I-4 and V-4 isopters became more constricted at 17y; 2y8m: initially placed on an arginine-restricted diet until he was 9 years of age, his serum ornithine concentrations were well controlled; after 9y serum ornithine concentrations began to increase and remained above the normal range"	""	"2y"	""	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309102"	"01985"	"00417668"	"00000"	"Familial, autosomal recessive"	"28y"	"presented with history of progressive night blindness and visual impairment over several years; no family history of similar complaints; systemic examination: unremarkable; serum ornithine levels: markedly elevated (697 umol/l, reference range 19-81 umol/l); best corrected visual acuity: 6/120 both eyes; refractive error: right / left eye: - 4.0-1.25 X 40 / -7.50 -1.50 X 155; visual fields: constricted; slit-lamp examination: bilateral posterior subcapsular cataracts; fundoscopy: bilateral sharply demarcated circular areas of chorioretinal atrophy involving the mid-periphery, the posterior pole relatively spared of these lesions, large round atrophic lesion at the temporal side of the right\'s eye macula and several tiny spots of atrophy along the superior temporal arcade, both foveal reflexes blunted, suggestive of central macular edema; fundus autofluorescence: loss of autofluorescence corresponding to areas of atrophy at periphery, hyperautofluorescent ring within the macula, center of this ring exhntense foveal autofluorescence, there elevated pinkish-yellow lesions with occasional tiny spots of calcification over both optic discs - their clinical and ultrasonography appearance consistent with optic nerve astrocytic hamartoma (rarely associated with gyrate atrophy); at presentation spectral domain optical coherence tomography exams right / left eye: bilateral severe central macular edema with central macular thickness of 670 um / 565 um; after 3 months of treatment (diet and pyridoxine), a significant decrease in serum ornithine levels from 697 to 450 umol/l measured, and marked improvement in central macular edema seen (central macular thickness reduced by 270 / 161 um); bilateral visual improvement - best corrected visual acuity right, left eye: 6/30, 6/21, waning of the central autofluorescence intensity; 18m follow-up, the patient failed to adhere to treatment and serum ornithine concentrations has elevated back to 589 umol/l - despite this increment, macular thickness and vision remained stable"	""	""	""	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309103"	"01985"	"00417669"	"00000"	"Familial, autosomal recessive"	"16y"	"6y: progressively myopic, unaware of night blindness or visual field disturbances; 16y: deterioration of vision; over the last year he consuming protein enriched dietary as part of a bodybuilding exercising plan; typical gyrate atrophy findings including: high myopia right / left eye: - 8.5 /- 9.0; constricted visual fields, mild posterior subcapsular cataracts, midperiphery chorioretinal atrophic lesions, and mild central macular edema; short-term treatment with oral acetazolamide (250 mg/day) which halted after 4 weeks due to lack of responsiveness; at presentation his best corrected visual acuity right, left eye: 6/15, 6/12 in the left eye; spectral domain optical coherence tomography: macular thickening with flattening of the foveal depression; 3 months of pyridoxine treatment, and with less protein intake (not consistent with the recommendations to keep the same daily protein intake as during the responsiveness trial), serum ornithine levels decreased only by about 15% (from 879 to 739 umol/l), accompanied by a reduction in macular thickness (from 403 to 323 um; and 352 to 305 um, in the right and left eyes, respectively), deepening of foveal depression, and improvement in best corrected visual acuity right, left eye to 6/12, 6/ 8.5"	"6y"	""	"progressive myopia"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309104"	"01985"	"00417677"	"00000"	"Familial, autosomal recessive"	""	"8y: difficulty reading at school; clinical history of failure to thrive, treated with somatotropin (growth hormone); family history: unremarkable for retinal disease; best corrected visual acuity and refraction right, left eye: 20/40, -6.75 -2.50 x170; 20/40, -6.50 -3.25 x180 in the left eye; normal color vision in both eyes and no metamorphopsia; fundus: patches of circumferential chorioretinal atrophy in the peripheral retina of both eyes; spectral domain optical coherence tomography: bilateral foveal-involving cystoid macular edema; full-field electroretinography: abolished responses in both eyes; serum ornithine level: 582 umol/l, normal range, 25.7-92.3 umol/l, consistent with the diagnosis of gyrate atrophy; arginine-restricted diet with pyridoxine (vitamin B6; 500 mg daily): 3m after, serum ornithine levels did not decrease but best-corrected visual acuity improved to 20/25 in both eyes, spectral domain optical coherence tomography: resolution of cystoid macular edema; 3y follow-up: serum ornithine levels were measured at regular intervals and were not found to decrease, despite strict adherence to the arginine-restricted diet and pyridoxine supplementation, anatomical and functional improvement maintained, spectral domain optical coherence tomography: small fluctuations of residual intraretinal cysts with good foveal contour in both"	""	""	""	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309105"	"01985"	"00417680"	"00000"	"Familial, autosomal recessive"	"67y"	"history of hypothyroidism, dementia, and type II diabetes, 67y: worsening vision due to retinal degeneration (diagnosis of retinitis pigmentosa); progressively constricting visual fields in both eyes and nyctalopia; 65y: bilateral cataract extraction; at presentation taking levothyroxine for hypothyroidism and metformin and glipizide for diabetes; most recent hemoglobin A1c level: 7.6% six months before presentation; best corrected visual acuity right, left eye: 20/25, 20/50; fundus: preservation of the retinal pigment epithelium around the macula bilaterally with distinct borders and preservation of retinal pigment epithelium islands in the periphery, along with some intraretinal pigment migration; preserved retinal pigment epithelium islands with very distinct borders that coalesced into a \"scalloped\" pattern; short-wavelength fundus autofluorescence: bilateral retinal pigment epithelium atrophy that encroached from the periphery and surrounds the central macula - sharply demarcated boundary between the spared and atrophied retinal pigment epithelium; spectral-domain optical coherence tomography: extensive choroidal sclerosis and degeneration in the areas of retinal pigment epithelium atrophy; retinal degeneration evident in areas of retinal pigment epithelium atrophy with thinning of the outer nuclear layer; full-field electroretinogram: scotopic rod-specific and maximal responses  extinguished, photopic 30 Hz-flicker amplitudes right / left eye: diminished to 5.6 uV / 3.7 uV in the left eye; sample of urine: elevated level of ornithine, 1906 umol/g (normal: 0-24); start on vitamin B6 supplementation 400 mg/day, baseline plasma amino acid levels  obtained and the ornithine level 586 umol/l (normal: 20-135), after two weeks of treatment with vitamin B6, plasma ornithine levels decreased to 419 umol/l. 69y: no changes in vision; best corrected visual acuity right, left eye: 20/40, 20/60; fundus autofluorescence: minimal disease progression as suggested by the area of retinal pigment epithelium atrophy as compared to the previous visits; optical coherence tomography angiography: spared retinal pigment epithelium around the central macula with paramacular areas of retinal pigment epithelium atrophy; choriocapillarie\'s’ appearance in the spared retinal pigment epithelium homogenous as expected, but the areas of retinal pigment epithelium atrophy show the individual larger choroidal vessels from Sattler\'s and Haller\'s layers, which become visible as the overlying retinal pigment epithelium and choriocapillaries’ atrophy;  plasma ornithine level obtained at this visit 445 umol/l"	""	""	""	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309106"	"01985"	"00417681"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309107"	"01985"	"00417682"	"00000"	"Familial, autosomal recessive"	"10y"	"4y: partial vision loss and strabismus 6y: large retinal atrophic area, gyrate atrophy suspected; optical coherence tomography: bilateral cystoid macular oedema, with numerous circular sharply limited atrophic zones in the retina; therapy with systemic corticosteroids and topical carbonic anhydrase inhibitors; diagnostic workup by a psychologist: attention-deficit with normal intellectual functioning; therapy divided into three phases: 1) pyridoxine at the dose 500 mg daily with unsatisfactory clinical and biochemical effect; Plasma ornithine concentration: measured at two-month intervals while the patient was fasting, 2) the dose of pyridoxine was lowered to 2 x 100 mg daily and a low protein diet was implemented (at first, 1 g/kg/day of natural protein that was further gradually lowered to 0.6 g/kg/day); 3) amino acid L-lysine additionally administered in rising dosages: from 6 to 12 g"	"4y"	""	"partial vision loss and strabismus"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309108"	"01985"	"00417692"	"00000"	"Familial, autosomal recessive"	"19y"	"15y: decreased central vision and visual acuity, prominent presence of fundus flecks in the retina; fundus: optic disc waxy yellow, retinal vasculature thin; retinal pigment epithelium and choroid atrophied with the exception of the unatrophied retina around the optic disc and the fovea of the macula; large choroidal vessels clearly visible in the atrophied area, the sclera visible at the posterior pole, and the atrophied areas were flat and petal-like at the peripheral area; scattered pigment deposits were observed across the entire retina, all results confirmed by fluorescein angiography; macular hypofluorescence; fundus autofluorescence: autofluorescence only appeared in the macular area, around the optic disc and peripheral pole; macular optical coherence tomography: moderate thinning in the retinal nerve fibre layer, cystic oedema in the middle, loss of external limiting membrane and ellipsoid area, significant thinning of the choroid, and only minimal vascular wall reflex, subcentral foveal choroid partially atrophied, extracentral choroidal atrophy more pronounced, strong reflective belt on the sclera under the retina outside of the fovea; full-field electroretinogram: scotopic rod response b-wave heavily reduced, and the scotopic combined rod-cone response flat both eyes; refraction right / left eye: highly myopic (-12.00/-12.50 dioptres)"	"5y6m"	""	"night blindness and reported gradual dark blindness"	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000309109"	"01985"	"00417693"	"00000"	"Familial, autosomal recessive"	"15y"	"similar but milder symptoms compared with the proband"	""	""	""	""	""	""	""	""	"atrophy, gyrate, of choroid and retina (GACR; ornithine aminotransferase deficiency (OATD))"	""	""
"0000318039"	"04214"	"00426901"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"Best Vitelliform Macular Dystrophy"	"Best Vitelliform Macular Dystrophy"	""


## Screenings ## Do not remove or alter this header ##
## Count = 160
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000050421"	"00050476"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000059767"	"00059780"	"1"	"00235"	"00235"	"2012-09-12 17:19:14"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000059768"	"00059781"	"1"	"00235"	"00235"	"2012-09-12 17:30:01"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000059769"	"00059782"	"1"	"00235"	"00235"	"2012-09-12 17:34:06"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000059770"	"00059783"	"1"	"00235"	"00235"	"2012-09-12 17:40:28"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000059771"	"00059784"	"1"	"00235"	"00235"	"2012-09-12 17:57:33"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000059772"	"00059785"	"1"	"00235"	"00235"	"2012-09-13 09:42:29"	""	""	"SEQ"	"DNA"	""	""
"0000059773"	"00059786"	"1"	"00235"	"00235"	"2012-09-13 09:59:14"	""	""	"SEQ"	"DNA"	""	""
"0000059785"	"00059798"	"1"	"00015"	"00015"	"2012-11-13 09:19:24"	""	""	"EMC"	"DNA"	""	""
"0000059786"	"00059799"	"1"	"00015"	"00015"	"2012-11-13 09:35:20"	""	""	"EMC;SEQ;Southern"	"DNA"	""	""
"0000059787"	"00059800"	"1"	"00015"	"00015"	"2012-11-13 10:21:09"	""	""	"EMC;SEQ;Southern"	"DNA"	""	""
"0000059788"	"00059801"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000059789"	"00059802"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000059790"	"00059803"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000059791"	"00059804"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000059792"	"00059805"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000059793"	"00059806"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000059794"	"00059807"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000059795"	"00059808"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000059796"	"00059809"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000059797"	"00059810"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000059798"	"00059811"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000059799"	"00059812"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000059800"	"00059813"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000059801"	"00059814"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000059802"	"00059815"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	"00006"	"2022-10-04 21:24:09"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000059803"	"00059816"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	"00006"	"2022-10-04 21:26:51"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000059804"	"00059817"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000059805"	"00059818"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000059806"	"00059819"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000059807"	"00059820"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000059808"	"00059821"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000059809"	"00059822"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000059810"	"00059823"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000059811"	"00059824"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000059812"	"00059825"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000059813"	"00059826"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000059814"	"00059827"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000059815"	"00059828"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000059816"	"00059829"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000059817"	"00059830"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000059818"	"00059831"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000059819"	"00059832"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000059820"	"00059833"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000059821"	"00059834"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060084"	"00060097"	"1"	"00235"	"00235"	"2012-09-12 17:28:08"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000060085"	"00060098"	"1"	"00235"	"00235"	"2012-09-12 17:53:58"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000060086"	"00060099"	"1"	"00235"	"00235"	"2012-09-13 09:19:32"	""	""	"SEQ"	"DNA"	""	""
"0000060087"	"00060100"	"1"	"00235"	"00235"	"2012-09-13 09:31:05"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000060105"	"00060118"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060108"	"00060121"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060109"	"00060122"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060110"	"00060123"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060111"	"00060124"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060112"	"00060125"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	"00006"	"2022-10-04 20:54:37"	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000060113"	"00060126"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060114"	"00060127"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060115"	"00060128"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060116"	"00060129"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060117"	"00060130"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060118"	"00060131"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060119"	"00060132"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060120"	"00060133"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060121"	"00060134"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060122"	"00060135"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060123"	"00060136"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060124"	"00060137"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060125"	"00060138"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060126"	"00060139"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060127"	"00060140"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060128"	"00060141"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060129"	"00060142"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060130"	"00060143"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060131"	"00060144"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060132"	"00060145"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060133"	"00060146"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060134"	"00060147"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060135"	"00060148"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060136"	"00060149"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060137"	"00060150"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060138"	"00060151"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060139"	"00060152"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060140"	"00060153"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060141"	"00060154"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060142"	"00060155"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000060143"	"00060156"	"1"	"00015"	"00015"	"2013-01-07 17:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000145016"	"00144157"	"1"	"01780"	"00006"	"2017-11-28 22:45:32"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000291167"	"00289999"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291168"	"00290000"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000305361"	"00304232"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000310413"	"00309268"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310414"	"00309269"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310415"	"00309270"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000329714"	"00328499"	"1"	"00000"	"00006"	"2021-01-28 09:35:56"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000335503"	"00334277"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000336455"	"00335226"	"1"	"00000"	"00006"	"2021-03-04 14:06:09"	""	""	"SEQ-NG"	"DNA"	""	"212-gene panel"
"0000389804"	"00388562"	"1"	"00000"	"03840"	"2021-11-04 19:02:37"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood;saliva"	"targeted sequencing with 1 of 4 panels of OFTALMOgenics probes"
"0000390560"	"00389317"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET7 targeted sequencing panel - see paper"
"0000393501"	"00392259"	"1"	"00000"	"03840"	"2021-11-22 09:44:22"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted next-generation sequencing"
"0000394722"	"00393474"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000418831"	"00417538"	"1"	"00000"	"03840"	"2022-09-19 13:08:11"	""	""	"Southern;Northern;RFLP;SEQ"	"DNA"	""	""
"0000418832"	"00417539"	"1"	"00000"	"03840"	"2022-09-19 13:08:11"	""	""	"Southern;Northern;RFLP;SEQ"	"DNA"	""	""
"0000418833"	"00417540"	"1"	"00000"	"03840"	"2022-09-19 13:08:11"	""	""	"Southern;Northern;RFLP;SEQ"	"DNA"	""	""
"0000418834"	"00417541"	"1"	"00000"	"03840"	"2022-09-19 13:08:11"	""	""	"Southern;Northern;RFLP;SEQ"	"DNA"	""	""
"0000418835"	"00417542"	"1"	"00000"	"03840"	"2022-09-19 13:40:29"	""	""	"Southern;Northern;RFLP;SEQ"	"DNA"	""	""
"0000418865"	"00417570"	"1"	"00000"	"03840"	"2022-09-20 11:31:13"	""	""	"Southern;Northern;RFLP"	"DNA"	""	""
"0000418878"	"00417583"	"1"	"00000"	"03840"	"2022-09-20 13:02:56"	""	""	"DGGE;Northern;SEQ"	"DNA"	"skin fibroblasts"	""
"0000418879"	"00417584"	"1"	"00000"	"03840"	"2022-09-20 13:02:56"	""	""	"DGGE;Northern;SEQ"	"DNA"	"skin fibroblasts"	""
"0000418880"	"00417585"	"1"	"00000"	"03840"	"2022-09-20 13:02:56"	""	""	"DGGE;Northern;SEQ"	"DNA"	"skin fibroblasts"	""
"0000418881"	"00417586"	"1"	"00000"	"03840"	"2022-09-20 13:02:56"	""	""	"DGGE;Northern;SEQ"	"DNA"	"skin fibroblasts"	""
"0000418884"	"00417588"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418885"	"00417589"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418886"	"00417590"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418887"	"00417591"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418888"	"00417592"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418889"	"00417593"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418890"	"00417594"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418891"	"00417595"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418892"	"00417596"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418893"	"00417597"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418894"	"00417598"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418895"	"00417599"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418896"	"00417600"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418897"	"00417601"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418898"	"00417602"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418899"	"00417603"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418900"	"00417604"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418901"	"00417605"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418902"	"00417606"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418903"	"00417607"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418904"	"00417608"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418905"	"00417609"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418906"	"00417610"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418907"	"00417611"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418908"	"00417612"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418909"	"00417613"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418910"	"00417614"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418911"	"00417615"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418912"	"00417616"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418913"	"00417617"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418914"	"00417618"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418915"	"00417619"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418916"	"00417620"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418917"	"00417621"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418918"	"00417622"	"1"	"00000"	"03840"	"2022-09-20 14:21:50"	""	""	"?"	"DNA"	""	""
"0000418919"	"00417623"	"1"	"00000"	"03840"	"2022-09-20 15:10:30"	""	""	"SEQ"	"DNA"	"primary dermal fibroblasts"	""
"0000418925"	"00417629"	"1"	"00000"	"03840"	"2022-09-20 20:26:57"	""	""	"SEQ"	"DNA"	""	""
"0000418926"	"00417630"	"1"	"00000"	"03840"	"2022-09-20 20:26:57"	""	""	"SEQ"	"DNA"	""	""
"0000418938"	"00417646"	"1"	"00000"	"03840"	"2022-09-21 10:22:33"	""	""	"SEQ"	"DNA"	""	""
"0000418939"	"00417647"	"1"	"00000"	"03840"	"2022-09-21 10:22:33"	""	""	"SEQ"	"DNA"	""	""
"0000418961"	"00417668"	"1"	"00000"	"03840"	"2022-09-21 12:32:41"	""	""	"SEQ"	"DNA"	""	""
"0000418962"	"00417669"	"1"	"00000"	"03840"	"2022-09-21 12:32:41"	""	""	"SEQ"	"DNA"	""	""
"0000418971"	"00417677"	"1"	"00000"	"03840"	"2022-09-21 14:09:25"	""	""	"SEQ"	"DNA"	""	""
"0000418974"	"00417680"	"1"	"00000"	"03840"	"2022-09-21 15:02:58"	""	""	"SEQ"	"DNA"	""	""
"0000418975"	"00417681"	"1"	"00000"	"03840"	"2022-09-21 15:18:44"	""	""	"SEQ"	"DNA"	""	""
"0000418976"	"00417682"	"1"	"00000"	"03840"	"2022-09-21 15:40:06"	""	""	"SEQ"	"DNA"	"blood"	""
"0000418986"	"00417692"	"1"	"00000"	"03840"	"2022-09-21 20:37:35"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next-generation sequencing, 195 genes"
"0000418987"	"00417693"	"1"	"00000"	"03840"	"2022-09-21 20:37:35"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next-generation sequencing, 195 genes"
"0000420015"	"00418720"	"1"	"00006"	"00006"	"2022-10-04 20:58:20"	""	""	"DGGE;SEQ"	"DNA"	""	""
"0000428221"	"00426901"	"1"	"00000"	"03840"	"2022-12-03 18:53:15"	""	""	"SEQ-NG;SEQ"	"DNA"	"saliva"	"panel-based next generation sequencing"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 156
"{{screeningid}}"	"{{geneid}}"
"0000059767"	"OAT"
"0000059768"	"OAT"
"0000059769"	"OAT"
"0000059770"	"OAT"
"0000059771"	"OAT"
"0000059772"	"OAT"
"0000059773"	"OAT"
"0000059785"	"OAT"
"0000059786"	"OAT"
"0000059787"	"OAT"
"0000059788"	"OAT"
"0000059789"	"OAT"
"0000059790"	"OAT"
"0000059791"	"OAT"
"0000059792"	"OAT"
"0000059793"	"OAT"
"0000059794"	"OAT"
"0000059795"	"OAT"
"0000059796"	"OAT"
"0000059797"	"OAT"
"0000059798"	"OAT"
"0000059799"	"OAT"
"0000059800"	"OAT"
"0000059801"	"OAT"
"0000059802"	"OAT"
"0000059803"	"OAT"
"0000059804"	"OAT"
"0000059805"	"OAT"
"0000059806"	"OAT"
"0000059807"	"OAT"
"0000059808"	"OAT"
"0000059809"	"OAT"
"0000059810"	"OAT"
"0000059811"	"OAT"
"0000059812"	"OAT"
"0000059813"	"OAT"
"0000059814"	"OAT"
"0000059815"	"OAT"
"0000059816"	"OAT"
"0000059817"	"OAT"
"0000059818"	"OAT"
"0000059819"	"OAT"
"0000059820"	"OAT"
"0000059821"	"OAT"
"0000060084"	"OAT"
"0000060085"	"OAT"
"0000060086"	"OAT"
"0000060087"	"OAT"
"0000060105"	"OAT"
"0000060108"	"OAT"
"0000060109"	"OAT"
"0000060110"	"OAT"
"0000060111"	"OAT"
"0000060112"	"OAT"
"0000060113"	"OAT"
"0000060114"	"OAT"
"0000060115"	"OAT"
"0000060116"	"OAT"
"0000060117"	"OAT"
"0000060118"	"OAT"
"0000060119"	"OAT"
"0000060120"	"OAT"
"0000060121"	"OAT"
"0000060122"	"OAT"
"0000060123"	"OAT"
"0000060124"	"OAT"
"0000060125"	"OAT"
"0000060126"	"OAT"
"0000060127"	"OAT"
"0000060128"	"OAT"
"0000060129"	"OAT"
"0000060130"	"OAT"
"0000060131"	"OAT"
"0000060132"	"OAT"
"0000060133"	"OAT"
"0000060134"	"OAT"
"0000060135"	"OAT"
"0000060136"	"OAT"
"0000060137"	"OAT"
"0000060138"	"OAT"
"0000060139"	"OAT"
"0000060140"	"OAT"
"0000060141"	"OAT"
"0000060142"	"OAT"
"0000060143"	"OAT"
"0000145016"	"EYS"
"0000310413"	"OAT"
"0000310414"	"OAT"
"0000310415"	"OAT"
"0000329714"	"OAT"
"0000335503"	"OAT"
"0000336455"	"OAT"
"0000389804"	"OAT"
"0000390560"	"OAT"
"0000393501"	"OAT"
"0000394722"	"OAT"
"0000418831"	"OAT"
"0000418832"	"OAT"
"0000418833"	"OAT"
"0000418834"	"OAT"
"0000418835"	"OAT"
"0000418865"	"OAT"
"0000418878"	"OAT"
"0000418879"	"OAT"
"0000418880"	"OAT"
"0000418881"	"OAT"
"0000418884"	"OAT"
"0000418885"	"OAT"
"0000418886"	"OAT"
"0000418887"	"OAT"
"0000418888"	"OAT"
"0000418889"	"OAT"
"0000418890"	"OAT"
"0000418891"	"OAT"
"0000418892"	"OAT"
"0000418893"	"OAT"
"0000418894"	"OAT"
"0000418895"	"OAT"
"0000418896"	"OAT"
"0000418897"	"OAT"
"0000418898"	"OAT"
"0000418899"	"OAT"
"0000418900"	"OAT"
"0000418901"	"OAT"
"0000418902"	"OAT"
"0000418903"	"OAT"
"0000418904"	"OAT"
"0000418905"	"OAT"
"0000418906"	"OAT"
"0000418907"	"OAT"
"0000418908"	"OAT"
"0000418909"	"OAT"
"0000418910"	"OAT"
"0000418911"	"OAT"
"0000418912"	"OAT"
"0000418913"	"OAT"
"0000418914"	"OAT"
"0000418915"	"OAT"
"0000418916"	"OAT"
"0000418917"	"OAT"
"0000418918"	"OAT"
"0000418919"	"OAT"
"0000418925"	"OAT"
"0000418926"	"OAT"
"0000418938"	"OAT"
"0000418939"	"OAT"
"0000418961"	"OAT"
"0000418962"	"OAT"
"0000418971"	"OAT"
"0000418974"	"OAT"
"0000418975"	"OAT"
"0000418976"	"OAT"
"0000418986"	"OAT"
"0000418987"	"OAT"
"0000420015"	"OAT"
"0000428221"	"BEST1"


## 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 = 233
"{{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}}"
"0000079401"	"0"	"90"	"10"	"123150811"	"135380935"	"dup"	"0"	"00006"	"ACADSB_000015"	"g.123150811_135380935dup"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"increased gene dosage"	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000090875"	"3"	"90"	"10"	"126090318"	"126090318"	"subst"	"2.44666E-5"	"00235"	"OAT_000002"	"g.126090318G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.124401749G>A"	""	"pathogenic"	""
"0000090876"	"1"	"90"	"10"	"126090318"	"126090318"	"subst"	"2.44666E-5"	"00235"	"OAT_000002"	"g.126090318G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.124401749G>A"	""	"pathogenic"	""
"0000090877"	"2"	"90"	"10"	"126097423"	"126097423"	"subst"	"0"	"00235"	"OAT_000004"	"g.126097423T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.124408854T>C"	""	"pathogenic"	""
"0000090878"	"3"	"90"	"10"	"126086650"	"126086650"	"subst"	"0"	"00235"	"OAT_000001"	"g.126086650C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.124398081C>T"	""	"pathogenic"	""
"0000090879"	"3"	"90"	"10"	"126086524"	"126086524"	"subst"	"1.22578E-5"	"00235"	"OAT_000005"	"g.126086524A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.124397955A>T"	""	"pathogenic"	""
"0000090880"	"3"	"90"	"10"	"126090315"	"126090315"	"subst"	"4.07667E-6"	"00235"	"OAT_000006"	"g.126090315C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.124401746C>T"	""	"pathogenic"	""
"0000090881"	"2"	"90"	"10"	"126086581"	"126086581"	"subst"	"1.62758E-5"	"00235"	"OAT_000009"	"g.126086581G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.124398012G>A"	""	"pathogenic"	""
"0000090882"	"2"	"10"	"10"	"126086520"	"126086520"	"subst"	"0.00028617"	"00235"	"OAT_000010"	"g.126086520C>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.124397951C>A"	""	"benign"	""
"0000090883"	"1"	"90"	"10"	"126094057"	"126094057"	"subst"	"8.12242E-6"	"00235"	"OAT_000008"	"g.126094057G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.124405488G>T"	""	"pathogenic"	""
"0000090884"	"3"	"90"	"10"	"126090357"	"126090357"	"subst"	"1.22277E-5"	"00235"	"OAT_000011"	"g.126090357C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.124401788C>T"	""	"pathogenic"	""
"0000090885"	"0"	"70"	"10"	"126086651"	"126086651"	"subst"	"0"	"00235"	"OAT_000012"	"g.126086651A>G"	""	"{PMID:Brody 1992:1737786}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.124398082A>G"	""	"likely pathogenic"	""
"0000090886"	"2"	"90"	"10"	"126086639"	"126086639"	"subst"	"4.06947E-6"	"00235"	"OAT_000014"	"g.126086639G>A"	""	"{PMID:Brody 1992:1737786}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.124398070G>A"	""	"pathogenic"	""
"0000090887"	"1"	"90"	"10"	"126092461"	"126092461"	"subst"	"1.62441E-5"	"00235"	"OAT_000013"	"g.126092461G>A"	""	"{PMID:Brody 1992:1737786}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.124403892G>A"	""	"pathogenic"	""
"0000090888"	"3"	"70"	"10"	"126086555"	"126086555"	"subst"	"4.07349E-6"	"00235"	"OAT_000015"	"g.126086555G>A"	""	"{PMID:Brody 1992:1737786}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.124397986G>A"	""	"likely pathogenic"	""
"0000090889"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00235"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Brody 1992:1737786}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000090919"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00015"	"OAT_000016"	"g.126086626A>G"	"0/19 FIN CON"	"{PMID:Mitchell 1989:2492100}"	""	""	"14 Finnish families (hom). Finnish major mutation. Mutant OAT protein was inactive."	"Germline"	"yes"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000090920"	"3"	"90"	"10"	"126094114"	"126094114"	"subst"	"7.31303E-5"	"00015"	"OAT_000017"	"g.126094114C>G"	"0/19 FIN CON"	"{PMID:Mitchell 1989:2492100}"	""	""	"Mutant OAT protein was inactive."	"Germline"	"yes"	""	"0"	""	""	"g.124405545C>G"	""	"pathogenic"	""
"0000090921"	"3"	"50"	"10"	"126094114"	"126094114"	"subst"	"7.31303E-5"	"00015"	"OAT_000017"	"g.126094114C>G"	"0/19 FIN CON"	"{PMID:Mitchell 1989:2492100}"	""	""	"Mutant OAT protein was inactive."	"Germline"	"yes"	""	"0"	""	""	"g.124405545C>G"	""	"VUS"	""
"0000090922"	"1"	"97"	"10"	"126097149"	"126097163"	"del"	"0"	"00015"	"OAT_000044"	"g.126097149_126097163del"	""	"{PMID:Park 1992:1301936}"	""	"15-bp deletion: del YTVKG"	""	"Germline"	"yes"	""	"0"	""	""	"g.124408580_124408594del"	""	"pathogenic"	""
"0000090923"	"3"	"97"	"10"	"126092428"	"126092428"	"subst"	"4.06068E-6"	"00015"	"OAT_000054"	"g.126092428C>T"	""	"{PMID:Ohkubo 2005:15750329}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.124403859C>T"	""	"pathogenic"	""
"0000090928"	"1"	"97"	"10"	"126089450"	"126089450"	"subst"	"0"	"00015"	"OAT_000024"	"g.126089450C>T"	""	"{PMID:Mashima 1992:1609808}"	""	"Codon 373 GGA (Gly) > GAA (Glu)"	""	"Germline"	"yes"	""	"0"	""	""	"g.124400881C>T"	""	"pathogenic"	""
"0000090929"	"2"	"97"	"10"	"126094026"	"126094026"	"subst"	"1.62456E-5"	"00015"	"OAT_000040"	"g.126094026A>T"	""	"{PMID:Mashima 1992:1609808}"	""	"Codon 209 (exon 6) TAT (Try) > TAA (stop codon)"	""	"Germline"	"yes"	""	"0"	""	""	"g.124405457A>T"	""	"pathogenic"	""
"0000090930"	"2"	"97"	"10"	"126091499"	"126091499"	"subst"	"1.62477E-5"	"00015"	"OAT_000062"	"g.126091499G>C"	""	"{PMID:Mashima 1992:1609808}"	""	"Codon 299 (exon 8) TAC (Tyr)>TAG (stop codon)"	""	"Germline"	"yes"	""	"0"	""	""	"g.124402930G>C"	""	"pathogenic (recessive)"	""
"0000090931"	"1"	"97"	"10"	"126094114"	"126094114"	"subst"	"7.31303E-5"	"00015"	"OAT_000017"	"g.126094114C>G"	""	"{PMID:Mashima 1992:1609808}"	""	"Codon 180 AGG (Arg) > ACG (Thr)"	""	"Germline"	"yes"	""	"0"	""	""	"g.124405545C>G"	""	"pathogenic (recessive)"	""
"0000090932"	"3"	"97"	"10"	"126086555"	"126086555"	"subst"	"4.07349E-6"	"00015"	"OAT_000015"	"g.126086555G>A"	""	"{PMID:Mashima 1992:1609808}"	""	"Codon 426 (exon 11, homozygous) CGA (Arg)>TGA (stop codon)"	""	"Germline"	"yes"	""	"0"	""	""	"g.124397986G>A"	""	"pathogenic (recessive)"	""
"0000090933"	"1"	"97"	"10"	"126086659"	"126086659"	"subst"	"0"	"00015"	"OAT_000026"	"g.126086659C>T"	""	"{PMID:Michaud 1992:1612597}"	""	"1171G>A: W391X"	"Unknown ethnicity"	"Germline"	"yes"	""	"0"	""	""	"g.124398090C>T"	""	"pathogenic"	""
"0000090934"	"1"	"97"	"10"	"126094103"	"126094103"	"subst"	"0"	"00015"	"OAT_000051"	"g.126094103C>T"	""	"{PMID:Michaud 1992:1612597}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.124405534C>T"	""	"pathogenic"	""
"0000090935"	"1"	"97"	"10"	"126093239"	"126094310"	"del"	"0"	"00015"	"OAT_000046"	"g.126093239_126094310del"	""	"{PMID:Akaki 1992:1618792}"	""	"1,072-bp deletion between 172 bp upstream and 772 bp downstream of exon 6: exon 6 skipping."	"very low RNA expression"	"Germline"	"yes"	""	"0"	""	""	"g.124404670_124405741del"	""	"pathogenic (recessive)"	""
"0000090936"	"3"	"97"	"10"	"126100582"	"126100582"	"del"	"4.06075E-6"	"00015"	"OAT_000029"	"g.126100582del"	""	"{PMID:Brody 1992:1737786}"	""	"159delC: H53fs(-l)"	"Iraqi Jew mutation"	"Germline"	"yes"	""	"0"	""	""	"g.124412013del"	""	"pathogenic"	""
"0000090937"	"3"	"97"	"10"	"126100738"	"126100738"	"subst"	"0"	"00015"	"OAT_000039"	"g.126100738C>T"	""	"{PMID:Brody 1992:1737786}, {PMID:Park 1992:1301936}"	""	"3G>A: MI1"	"1 Lebanese Maronite patient and 1 patient of unknown ethnicity. Mutation leads to production of inactive OAT protein."	"Germline"	"yes"	""	"0"	""	""	"g.124412169C>T"	""	"pathogenic"	""
"0000090938"	"1"	"97"	"10"	"126086581"	"126086581"	"subst"	"1.62758E-5"	"00015"	"OAT_000009"	"g.126086581G>A"	""	"{PMID:Brody 1992:1737786}, {PMID:Sergouniotis 2012:22182799}"	""	"1250C>T"	""	"Germline"	"yes"	""	"0"	""	""	"g.124398012G>A"	""	"pathogenic"	""
"0000090939"	"1"	"97"	"10"	"126086520"	"126086520"	"subst"	"0.00028617"	"00015"	"OAT_000010"	"g.126086520C>A"	""	"{PMID:Brody 1992:1737786}"	""	"1311G>T"	"Mutation with undetermined ethnicity."	"Germline"	"yes"	""	"0"	""	""	"g.124397951C>A"	""	"pathogenic"	""
"0000090940"	"1"	"97"	"10"	"126086651"	"126086651"	"subst"	"0"	"00015"	"OAT_000012"	"g.126086651A>G"	""	"{PMID:Brody 1992:1737786}"	""	"1180T>C"	""	"Germline"	"yes"	""	"0"	""	""	"g.124398082A>G"	""	"pathogenic"	""
"0000090941"	"3"	"97"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00015"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Mitchell 1989:2492100}, {PMID:Brody 1992:1737786}"	""	"1205T>C"	"Finnish major mutation. 14 Finnish families (hom). Mutation leads to production of inactive OAT protein."	"Germline"	"yes"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000090942"	"3"	"97"	"10"	"126094114"	"126094114"	"subst"	"7.31303E-5"	"00015"	"OAT_000017"	"g.126094114C>G"	""	"{PMID:Brody 1992:1737786}"	""	"539G>C"	""	"Germline"	"yes"	""	"0"	""	""	"g.124405545C>G"	""	"pathogenic"	""
"0000090943"	"3"	"97"	"10"	"126089540"	"126089540"	"del"	"0"	"00015"	"OAT_000022"	"g.126089540del"	""	"{PMID:Brody 1992:1737786}"	""	"1028-31delA: N334fs(-l)"	"West African  mutation. Very low RNA expression level."	"Germline"	"yes"	""	"0"	""	""	"g.124400971del"	""	"pathogenic"	""
"0000090944"	"1"	"97"	"10"	"126089510"	"126089510"	"subst"	"3.66584E-5"	"00015"	"OAT_000023"	"g.126089510C>T"	""	"{PMID:Brody 1992:1737786}"	""	"1058G>A"	"Spanish  mutation"	"Germline"	"yes"	""	"0"	""	""	"g.124400941C>T"	""	"pathogenic"	""
"0000090945"	"3"	"97"	"10"	"126086645"	"126086645"	"subst"	"0"	"00015"	"OAT_000027"	"g.126086645G>A"	""	"{PMID:Brody 1992:1737786}"	""	"1186C>T"	""	"Germline"	"yes"	""	"0"	""	""	"g.124398076G>A"	""	"pathogenic"	""
"0000090946"	"3"	"97"	"10"	"126086630"	"126086630"	"subst"	"0"	"00015"	"OAT_000028"	"g.126086630C>A"	""	"{PMID:Brody 1992:1737786}"	""	"1201G>T"	""	"Germline"	"yes"	""	"0"	""	""	"g.124398061C>A"	""	"pathogenic"	""
"0000090947"	"1"	"97"	"10"	"126100578"	"126100578"	"subst"	"0"	"00015"	"OAT_000031"	"g.126100578A>G"	""	"{PMID:Ramesh 1988:3375240}, {PMID:Brody 1992:1737786}"	""	"163T>C"	"Australian/Hungarian/English mutation. Mutation leads to very low RNA expression level and production of inactive OAT protein."	"Germline"	"yes"	""	"0"	""	""	"g.124412009A>G"	""	"pathogenic"	""
"0000090948"	"1"	"97"	"10"	"126097467"	"126097467"	"subst"	"0"	"00015"	"OAT_000034"	"g.126097467G>T"	""	"{PMID:Brody 1992:1737786}"	""	"267C>A"	"Finnish mutation"	"Germline"	"yes"	""	"0"	""	""	"g.124408898G>T"	""	"pathogenic"	""
"0000090949"	"1"	"97"	"10"	"126097456"	"126097456"	"subst"	"0"	"00015"	"OAT_000036"	"g.126097456C>A"	""	"{PMID:Brody 1992:1737786}"	""	"278G>T"	"German/Italian  mutation"	"Germline"	"yes"	""	"0"	""	""	"g.124408887C>A"	""	"pathogenic"	""
"0000090950"	"1"	"97"	"10"	"126097354"	"126097354"	"dup"	"0"	"00015"	"OAT_000038"	"g.126097354dup"	""	"{PMID:Brody 1992:1737786}"	""	"380-1insT: 1127fs(+l)"	"Welsh mutation. Reduced RNA expression."	"Germline"	"yes"	""	"0"	""	""	"g.124408785dup"	""	"pathogenic"	""
"0000090951"	"3"	"97"	"10"	"126097170"	"126097170"	"subst"	"0"	"00015"	"OAT_000043"	"g.126097170C>A"	""	"{PMID:Brody 1992:1737786}"	""	"461G>T"	"English/German mutation. Mutation leads to production of inactive OAT protein."	"Germline"	"yes"	""	"0"	""	""	"g.124408601C>A"	""	"pathogenic"	""
"0000090952"	"1"	"97"	"10"	"126094103"	"126094105"	"del"	"0"	"00015"	"OAT_000050"	"g.126094103_126094105del"	""	"{PMID:Brody 1992:1737786}"	""	"550delGCT"	"Portugese  mutation. Mutation leads to production of inactive OAT protein."	"Germline"	"yes"	""	"0"	""	""	"g.124405534_124405536del"	""	"pathogenic"	""
"0000090953"	"1"	"97"	"10"	"126092416"	"126092416"	"subst"	"3.65461E-5"	"00015"	"OAT_000055"	"g.126092416G>A"	""	"{PMID:Brody 1992:1737786}"	""	"722C>T"	"German/Italian  mutation"	"Germline"	"yes"	""	"0"	""	""	"g.124403847G>A"	""	"pathogenic"	""
"0000090954"	"1"	"97"	"10"	"126092404"	"126092404"	"subst"	"4.06065E-6"	"00015"	"OAT_000056"	"g.126092404T>C"	""	"{PMID:Brody 1992:1737786}"	""	"734A>G"	""	"Germline"	"yes"	""	"0"	""	""	"g.124403835T>C"	""	"pathogenic"	""
"0000090955"	"3"	"97"	"10"	"126092389"	"126092389"	"subst"	"0"	"00015"	"OAT_000057"	"g.126092389C>G"	""	"{PMID:Brody 1992:1737786}"	""	"749G>C"	"French  mutation"	"Germline"	"yes"	""	"0"	""	""	"g.124403820C>G"	""	"pathogenic"	""
"0000090956"	"1"	"97"	"10"	"126091596"	"126091596"	"subst"	"4.47646E-5"	"00015"	"OAT_000058"	"g.126091596G>A"	""	"{PMID:Brody 1992:1737786}"	""	"800C>T"	""	"Germline"	"yes"	""	"0"	""	""	"g.124403027G>A"	""	"pathogenic"	""
"0000090957"	"3"	"97"	"10"	"126091588"	"126091588"	"subst"	"0"	"00015"	"OAT_000059"	"g.126091588C>G"	""	"{PMID:Brody 1992:1737786}"	""	"808G>C"	"Portugese  mutation"	"Germline"	"yes"	""	"0"	""	""	"g.124403019C>G"	""	"pathogenic"	""
"0000090958"	"3"	"97"	"10"	"126091584"	"126091584"	"subst"	"0"	"00015"	"OAT_000060"	"g.126091584C>T"	""	"{PMID:Brody 1992:1737786}"	""	"812G>A"	"Japanese  mutation"	"Germline"	"yes"	""	"0"	""	""	"g.124403015C>T"	""	"pathogenic"	""
"0000090959"	"3"	"97"	"10"	"126090360"	"126090360"	"del"	"0"	"00015"	"OAT_000064"	"g.126090360del"	""	"{PMID:Brody 1992:1737786}"	""	"949-52delG: E318fs(-l)"	"Turkish (Shephardic)  mutation. Very low RNA expression level."	"Germline"	"yes"	""	"0"	""	""	"g.124401791del"	""	"pathogenic"	""
"0000090960"	"1"	"97"	"10"	"126089444"	"126089444"	"subst"	"0"	"00015"	"OAT_000025"	"g.126089444C>G"	""	"{PMID:Brody 1992:1737786}"	""	"1124G>C"	""	"Germline"	"yes"	""	"0"	""	""	"g.124400875C>G"	""	"pathogenic"	""
"0000090961"	"3"	"97"	"10"	"126090315"	"126090315"	"subst"	"4.07667E-6"	"00015"	"OAT_000006"	"g.126090315C>T"	""	"{PMID:Ramesh 1988:3375240}"	""	"G>A at 994 bp: Val332 Met"	""	"Germline"	"yes"	""	"0"	""	""	"g.124401746C>T"	""	"pathogenic (recessive)"	""
"0000090962"	"3"	"97"	"10"	"126100579"	"126100579"	"subst"	"1.21824E-5"	"00015"	"OAT_000030"	"g.126100579G>T"	""	"{PMID:Ramesh 1988:3375240}"	""	"C>A at 162 bp, Asp54Lys"	"Mutation leads to inactive OAT protein."	"Germline"	"yes"	""	"0"	""	""	"g.124412010G>T"	""	"pathogenic (recessive)"	""
"0000090963"	"3"	"97"	"10"	"126097466"	"126097466"	"subst"	"0"	"00015"	"OAT_000035"	"g.126097466G>C"	""	"{PMID:Kobayashi et al.1995:7668253}"	""	"268C>G: Q90E"	"Loss of mitocondrial targeting of mutant protein."	"Germline"	"yes"	""	"0"	""	""	"g.124408897G>C"	""	"pathogenic"	""
"0000090964"	"2"	"97"	"10"	"126090331"	"126090331"	"subst"	"0"	"00015"	"OAT_000067"	"g.126090331A>T"	""	"{PMID:Mashima 1996:8670789}"	""	"Codon 326 AAT>AAA: Asn>Lys"	""	"Germline"	"yes"	""	"0"	""	""	"g.124401762A>T"	""	"pathogenic"	""
"0000090965"	"1"	"97"	"10"	"126097362"	"126097364"	"del"	"0"	"00015"	"OAT_000037"	"g.126097362_126097364del"	""	"{PMID:Mashima 1996:8670789}"	""	"Codon 125 GAG Glu deletion"	""	"Germline"	"yes"	""	"0"	""	""	"g.124408793_124408795del"	""	"pathogenic"	""
"0000090966"	"3"	"97"	"10"	"126090354"	"126090354"	"subst"	"0"	"00015"	"OAT_000065"	"g.126090354G>A"	""	"{PMID:Mashima 1996:8670789}"	""	"Codon 319 CAT>TAT: His>Tyr"	""	"Germline"	"yes"	""	"0"	""	""	"g.124401785G>A"	""	"pathogenic"	""
"0000090967"	"3"	"97"	"10"	"126097206"	"126097206"	"subst"	"0"	"00015"	"OAT_000042"	"g.126097206C>T"	""	"{PMID:Mashima 1996:8670789}"	""	"Codon 142 GGA>GAA: Gly>Glu"	""	"Germline"	"yes"	""	"0"	""	""	"g.124408637C>T"	""	"pathogenic"	""
"0000090968"	"3"	"97"	"10"	"126094111"	"126094111"	"subst"	"4.06237E-6"	"00015"	"OAT_000049"	"g.126094111G>A"	""	"{PMID:Mashima 1996:8670789}"	""	"Codon 181 ACG>ATG: Thr>Met"	""	"Germline"	"yes"	""	"0"	""	""	"g.124405542G>A"	""	"pathogenic"	""
"0000090969"	"3"	"97"	"10"	"126086555"	"126086555"	"subst"	"4.07349E-6"	"00015"	"OAT_000015"	"g.126086555G>A"	""	"{PMID:Mashima 1996:8670789}"	""	"Codon 426 CGA>TGA: Arg>Ter"	""	"Germline"	"yes"	""	"0"	""	""	"g.124397986G>A"	""	"pathogenic (recessive)"	""
"0000090970"	"2"	"97"	"10"	"126091584"	"126091584"	"subst"	"0"	"00015"	"OAT_000060"	"g.126091584C>T"	""	"{PMID:Mashima 1996:8670789}"	""	"Codon 271 AGA>AAA: Arg>Lys"	""	"Germline"	"yes"	""	"0"	""	""	"g.124403015C>T"	""	"pathogenic"	""
"0000090971"	"1"	"97"	"10"	"126094070"	"126094070"	"subst"	"0"	"00015"	"OAT_000052"	"g.126094070C>A"	""	"{PMID:Mashima 1996:8670789}"	""	"Codon 195: GAT>TAT: Asp>Tyr"	""	"Germline"	"yes"	""	"0"	""	""	"g.124405501C>A"	""	"pathogenic"	""
"0000090972"	"3"	"97"	"10"	"126091584"	"126091584"	"subst"	"0"	"00015"	"OAT_000060"	"g.126091584C>T"	""	"{PMID:Mashima 1996:8670789}"	""	"Codon 271 AGA>AAA: Arg>Lys"	""	"Germline"	"yes"	""	"0"	""	""	"g.124403015C>T"	""	"pathogenic"	""
"0000090973"	"3"	"97"	"10"	"126092440"	"126092440"	"subst"	"1.62429E-5"	"00015"	"OAT_000053"	"g.126092440T>C"	""	"{PMID:Park 1992:1427882}"	""	"CAG>CGG: Q233R"	""	"Germline"	"yes"	""	"0"	""	""	"g.124403871T>C"	""	"pathogenic"	""
"0000090974"	"2"	"97"	"10"	"126090410"	"126090410"	"subst"	"0"	"00015"	"OAT_000063"	"g.126090410T>C"	""	"{PMID:Park 1992:1427882}"	""	"3\' splice acceptor site of exon 9: del of exon 9: Val300-Glu338del"	"Exon 8 skipping."	"Germline"	"yes"	""	"0"	""	""	"g.124401841T>C"	""	"pathogenic"	""
"0000090975"	"1"	"97"	"10"	"126092461"	"126092461"	"subst"	"1.62441E-5"	"00015"	"OAT_000013"	"g.126092461G>A"	""	"{PMID:Park 1992:1427882}"	""	"677C>G: A226V"	""	"Germline"	"yes"	""	"0"	""	""	"g.124403892G>A"	""	"pathogenic"	""
"0000090976"	"1"	"97"	"10"	"126090357"	"126090357"	"subst"	"1.22277E-5"	"00015"	"OAT_000011"	"g.126090357C>T"	""	"{PMID:Mashima 1992:1487247}"	""	"Glu318Lys"	""	"Germline"	"yes"	""	"0"	""	""	"g.124401788C>T"	""	"pathogenic (recessive)"	""
"0000090977"	"2"	"97"	"10"	"126097208"	"126097208"	"subst"	"0"	"00015"	"OAT_000040"	"g.126097208T>C"	""	"{PMID:Mashima 1992:1487247}"	""	"Exon 5 skipping"	"exon 4 skipping (published exon 5)"	"Germline"	"yes"	""	"0"	""	""	"g.124408639T>C"	""	"pathogenic (recessive)"	""
"0000090978"	"3"	"97"	"10"	"126100239"	"126100239"	"subst"	"0"	"00015"	"OAT_000033"	"g.126100239G>C"	""	"{PMID:Mitchell 1991:1992472}"	""	"OAT G67ins; C>G transition in intron 3: mRNA with 142-bp insertion (new Alu exon\"\") between exon 3 and 4\"\""	"Mutation creates a new donor splice site that activates an upstream cryptic acceptor site. New 142 bp exon\"\" is  created and included into transcript.\"\""	"Germline"	"yes"	""	"0"	""	""	"g.124411670G>C"	""	"pathogenic"	""
"0000090979"	"1"	"97"	"10"	"126097204"	"126097212"	"del"	"0"	"00015"	"OAT_000041"	"g.126097204_126097212del"	""	"{PMID:McClatchey 1990:2220818}"	""	"a 9-bp deletion covering the 3\' splice acceptor region of intron 4: exon 5 skipping; McClatchey-1"	""	"Germline"	"yes"	""	"0"	""	""	"g.124408635_124408643del"	""	"pathogenic"	""
"0000090980"	"2"	"97"	"10"	"126091499"	"126091499"	"subst"	"1.62477E-5"	"00015"	"OAT_000062"	"g.126091499G>C"	""	"{PMID:Renner et al.2012:22674428}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.124402930G>C"	""	"pathogenic"	""
"0000090981"	"1"	"97"	"10"	"126094117"	"126094121"	"del"	"0"	"00015"	"OAT_000047"	"g.126094117_126094121del"	""	"{PMID:Renner et al.2012:22674428}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.124405548_124405552del"	""	"pathogenic"	""
"0000090982"	"3"	"97"	"10"	"126090315"	"126090315"	"subst"	"4.07667E-6"	"00015"	"OAT_000006"	"g.126090315C>T"	""	"{PMID:Ramesh 1988:3375240}, {PMID:Doimo 2012:23076989}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.124401746C>T"	""	"pathogenic"	""
"0000090983"	"3"	"97"	"10"	"126090315"	"126090315"	"subst"	"4.07667E-6"	"00015"	"OAT_000006"	"g.126090315C>T"	""	"{PMID:Ramesh 1988:3375240}, {PMID:Doimo 2012:23076989}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.124401746C>T"	""	"pathogenic"	""
"0000090984"	"1"	"97"	"10"	"126086650"	"126086650"	"subst"	"0"	"00015"	"OAT_000001"	"g.126086650C>T"	""	"{PMID:Doimo 2012:23076989}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.124398081C>T"	""	"pathogenic (recessive)"	""
"0000090985"	"2"	"97"	"10"	"126100589"	"126100589"	"subst"	"1.21821E-5"	"00015"	"OAT_000003"	"g.126100589C>T"	""	"{PMID:Doimo 2012:23076989}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.124412020C>T"	""	"pathogenic (recessive)"	""
"0000090986"	"1"	"97"	"10"	"126086650"	"126086650"	"subst"	"0"	"00015"	"OAT_000001"	"g.126086650C>T"	""	"{PMID:Doimo 2012:23076989}"	""	""	""	"Germline/De novo (untested)"	"yes"	""	"0"	""	""	"g.124398081C>T"	""	"pathogenic (recessive)"	""
"0000090987"	"2"	"97"	"10"	"126100589"	"126100589"	"subst"	"1.21821E-5"	"00015"	"OAT_000003"	"g.126100589C>T"	""	"{PMID:Doimo 2012:23076989}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.124412020C>T"	""	"pathogenic (recessive)"	""
"0000090988"	"3"	"97"	"10"	"126090318"	"126090318"	"subst"	"2.44666E-5"	"00015"	"OAT_000002"	"g.126090318G>A"	""	"{PMID:Doimo 2012:23076989}"	""	""	"1 Turkish patient (hom) and 1 Greek patient (com-het)"	"Germline"	"yes"	""	"0"	""	""	"g.124401749G>A"	""	"pathogenic"	""
"0000090989"	"1"	"97"	"10"	"126090318"	"126090318"	"subst"	"2.44666E-5"	"00015"	"OAT_000002"	"g.126090318G>A"	""	"{PMID:Doimo 2012:23076989}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.124401749G>A"	""	"pathogenic"	""
"0000090990"	"2"	"97"	"10"	"126097423"	"126097423"	"subst"	"0"	"00015"	"OAT_000004"	"g.126097423T>C"	""	"{PMID:Doimo 2012:23076989}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.124408854T>C"	""	"pathogenic"	""
"0000090991"	"3"	"97"	"10"	"126086650"	"126086650"	"subst"	"0"	"00015"	"OAT_000001"	"g.126086650C>T"	""	"{PMID:Doimo 2012:23076989}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.124398081C>T"	""	"pathogenic"	""
"0000090992"	"3"	"97"	"10"	"126086524"	"126086524"	"subst"	"1.22578E-5"	"00015"	"OAT_000005"	"g.126086524A>T"	""	"{PMID:Doimo 2012:23076989}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.124397955A>T"	""	"pathogenic"	""
"0000090993"	"2"	"97"	"10"	"126086581"	"126086581"	"subst"	"1.62758E-5"	"00015"	"OAT_000009"	"g.126086581G>A"	""	"{PMID:Doimo 2012:23076989}"	""	"[1250C>T, 1311G>T]"	""	"Germline"	"yes"	""	"0"	""	""	"g.124398012G>A"	""	"pathogenic"	""
"0000090994"	"2"	"97"	"10"	"126086520"	"126086520"	"subst"	"0.00028617"	"00015"	"OAT_000010"	"g.126086520C>A"	""	"{PMID:Doimo 2012:23076989}"	""	"[1250C>T, 1311G>T]"	""	"Germline"	"yes"	""	"0"	""	""	"g.124397951C>A"	""	"pathogenic"	""
"0000090995"	"1"	"97"	"10"	"126094057"	"126094057"	"subst"	"8.12242E-6"	"00015"	"OAT_000008"	"g.126094057G>T"	""	"{PMID:Doimo 2012:23076989}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.124405488G>T"	""	"pathogenic"	""
"0000090996"	"3"	"97"	"10"	"126090357"	"126090357"	"subst"	"1.22277E-5"	"00015"	"OAT_000011"	"g.126090357C>T"	""	"{PMID:Doimo 2012:23076989}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.124401788C>T"	""	"pathogenic"	""
"0000090997"	"3"	"97"	"10"	"126092461"	"126092461"	"subst"	"1.62441E-5"	"00015"	"OAT_000013"	"g.126092461G>A"	""	"{PMID:Michaud 1995:7887415}"	""	"677C>G: A226V"	""	"Germline"	"yes"	""	"0"	""	""	"g.124403892G>A"	""	"pathogenic"	""
"0000090998"	"2"	"97"	"10"	"126086639"	"126086639"	"subst"	"4.06947E-6"	"00015"	"OAT_000014"	"g.126086639G>A"	""	"{PMID:Michaud 1995:7887415}"	""	"C>T transition at position 1192C>T: R398ter"	"Inactive OAT protein."	"Germline"	"yes"	""	"0"	""	""	"g.124398070G>A"	""	"pathogenic"	""
"0000090999"	"1"	"97"	"10"	"126092461"	"126092461"	"subst"	"1.62441E-5"	"00015"	"OAT_000013"	"g.126092461G>A"	""	"{PMID:Michaud 1995:7887415}"	""	"677C>G: A226V"	""	"Germline"	"yes"	""	"0"	""	""	"g.124403892G>A"	""	"pathogenic"	""
"0000091000"	"3"	"97"	"10"	"126094120"	"126094120"	"subst"	"0"	"00015"	"OAT_000048"	"g.126094120C>T"	""	"{PMID:Dietz 1993:8430317}"	""	"Exon 6 bp +13G>A: W178X and exon 6 skipping"	"Exon 8 skipping in less than 5% of transcripts."	"Germline"	"yes"	""	"0"	""	""	"g.124405551C>T"	""	"pathogenic"	""
"0000091001"	"1"	"97"	"10"	"126091572"	"126091572"	"subst"	"4.06445E-6"	"00015"	"OAT_000061"	"g.126091572C>T"	""	"{PMID:Dietz 1993:8430317}"	""	"Exon 8 bp +53G>A: W275X and exon 8 skipping"	"Exon 5 skipping in less than 5% of transcripts."	"Germline"	"yes"	""	"0"	""	""	"g.124403003C>T"	""	"pathogenic"	""
"0000091002"	"3"	"97"	"10"	"126100589"	"126100589"	"subst"	"1.21821E-5"	"00015"	"OAT_000003"	"g.126100589C>T"	""	"{PMID:Sergouniotis 2012:22182799}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.124412020C>T"	""	"pathogenic"	""
"0000091003"	"1"	"97"	"10"	"126090357"	"126090357"	"subst"	"1.22277E-5"	"00015"	"OAT_000011"	"g.126090357C>T"	""	"{PMID:Sergouniotis 2012:22182799}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.124401788C>T"	""	"pathogenic"	""
"0000091004"	"2"	"97"	"10"	"126086581"	"126086581"	"subst"	"1.62758E-5"	"00015"	"OAT_000009"	"g.126086581G>A"	""	"{PMID:Brody 1992:1737786}, {PMID:Sergouniotis 2012:22182799}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.124398012G>A"	""	"pathogenic"	""
"0000091005"	"1"	"97"	"10"	"126094057"	"126094057"	"subst"	"8.12242E-6"	"00015"	"OAT_000008"	"g.126094057G>T"	""	"{PMID:Sergouniotis 2012:22182799}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.124405488G>T"	""	"pathogenic"	""
"0000091006"	"2"	"97"	"10"	"126086581"	"126086581"	"subst"	"1.62758E-5"	"00015"	"OAT_000009"	"g.126086581G>A"	""	"{PMID:Brody 1992:1737786}, {PMID:Sergouniotis 2012:22182799}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.124398012G>A"	""	"pathogenic"	""
"0000091007"	"1"	"97"	"10"	"126094057"	"126094057"	"subst"	"8.12242E-6"	"00015"	"OAT_000008"	"g.126094057G>T"	""	"{PMID:Sergouniotis 2012:22182799}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.124405488G>T"	""	"pathogenic"	""
"0000091008"	"2"	"97"	"10"	"126091499"	"126091499"	"subst"	"1.62477E-5"	"00015"	"OAT_000062"	"g.126091499G>C"	""	"{PMID:Sergouniotis 2012:22182799}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.124402930G>C"	""	"pathogenic"	""
"0000091009"	"1"	"97"	"10"	"126097372"	"126097372"	"subst"	"0"	"00015"	"OAT_000070"	"g.126097372C>T"	""	"{PMID:Sergouniotis 2012:22182799}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.124408803C>T"	""	"pathogenic"	""
"0000091010"	"2"	"97"	"10"	"126092390"	"126092390"	"subst"	"8.12189E-6"	"00015"	"OAT_000071"	"g.126092390G>A"	""	"{PMID:Sergouniotis 2012:22182799}"	""	"Arg250X"	""	"Germline"	"yes"	""	"0"	""	""	"g.124403821G>A"	""	"pathogenic"	""
"0000091011"	"1"	"97"	"10"	"126100578"	"126100578"	"subst"	"0"	"00015"	"OAT_000031"	"g.126100578A>G"	""	"{PMID:Sergouniotis 2012:22182799}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.124412009A>G"	""	"pathogenic"	""
"0000091012"	"2"	"97"	"10"	"126090354"	"126090354"	"subst"	"0"	"00015"	"OAT_000065"	"g.126090354G>A"	""	"{PMID:Inana 1989:2793865}"	""	"C>T  CAT>TAT: His319Tyr"	"2 Japanese patients (1 hom and 1 het). Second mutation not determined. Mutation leads to degradation of the labile OAT precursor and loss of activity."	"Germline"	"yes"	""	"0"	""	""	"g.124401785G>A"	""	"pathogenic"	""
"0000091013"	"3"	"97"	"10"	"126097462"	"126097462"	"subst"	"1.21852E-5"	"00015"	"OAT_000068"	"g.126097462C>T"	""	"{PMID:Sergouniotis 2012:22182799}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.124408893C>T"	""	"pathogenic"	""
"0000246924"	"0"	"10"	"10"	"126097544"	"126097544"	"subst"	"0.00178025"	"02330"	"OAT_000077"	"g.126097544A>G"	""	""	""	"OAT(NM_001322966.1):c.200-10T>C, OAT(NM_001322966.2):c.200-10T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.124408975A>G"	""	"benign"	""
"0000293340"	"0"	"10"	"10"	"126100522"	"126100522"	"subst"	"2.85731E-5"	"02330"	"OAT_000078"	"g.126100522C>T"	""	""	""	"OAT(NM_000274.4):c.199+20G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.124411953C>T"	""	"benign"	""
"0000293341"	"0"	"10"	"10"	"126094149"	"126094152"	"del"	"0"	"02330"	"OAT_000075"	"g.126094149_126094152del"	""	""	""	"OAT(NM_000274.4):c.521-15_521-12delGTTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.124405580_124405583del"	""	"benign"	""
"0000293342"	"0"	"10"	"10"	"126090340"	"126090340"	"subst"	"0.000293566"	"02330"	"OAT_000073"	"g.126090340G>A"	""	""	""	"OAT(NM_000274.4):c.969C>T (p.Y323=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.124401771G>A"	""	"benign"	""
"0000296655"	"0"	"10"	"10"	"126089434"	"126089434"	"subst"	"0.427519"	"02325"	"OAT_000072"	"g.126089434G>A"	""	""	""	"OAT(NM_000274.4):c.1134C>T (p.N378=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.124400865G>A"	""	"benign"	""
"0000296656"	"0"	"10"	"10"	"126100523"	"126100523"	"subst"	"0.273494"	"02325"	"OAT_000079"	"g.126100523G>A"	""	""	""	"OAT(NM_000274.4):c.199+19C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.124411954G>A"	""	"benign"	""
"0000296657"	"0"	"10"	"10"	"126093991"	"126093991"	"subst"	"0.852729"	"02325"	"OAT_000074"	"g.126093991T>C"	""	""	""	"OAT(NM_000274.4):c.648+14A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.124405422T>C"	""	"benign"	""
"0000337083"	"0"	"10"	"10"	"126093991"	"126093991"	"subst"	"0.852729"	"02327"	"OAT_000074"	"g.126093991T>C"	""	""	""	"OAT(NM_000274.4):c.648+14A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.124405422T>C"	""	"benign"	""
"0000337088"	"0"	"10"	"10"	"126100523"	"126100523"	"subst"	"0.273494"	"02327"	"OAT_000079"	"g.126100523G>A"	""	""	""	"OAT(NM_000274.4):c.199+19C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.124411954G>A"	""	"benign"	""
"0000337089"	"0"	"30"	"10"	"126107465"	"126107465"	"subst"	"0"	"02327"	"OAT_000080"	"g.126107465G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.124418896G>A"	""	"likely benign"	""
"0000337090"	"0"	"10"	"10"	"126107506"	"126107506"	"subst"	"0"	"02327"	"OAT_000081"	"g.126107506A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.124418937A>C"	""	"benign"	""
"0000340703"	"0"	"10"	"10"	"126089434"	"126089434"	"subst"	"0.427519"	"02327"	"OAT_000072"	"g.126089434G>A"	""	""	""	"OAT(NM_000274.4):c.1134C>T (p.N378=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.124400865G>A"	""	"benign"	""
"0000341984"	"0"	"50"	"10"	"126097171"	"126097171"	"subst"	"2.03115E-5"	"02327"	"OAT_000076"	"g.126097171G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.124408602G>A"	""	"VUS"	""
"0000347683"	"0"	"90"	"10"	"126100738"	"126100738"	"subst"	"0"	"02327"	"OAT_000039"	"g.126100738C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.124412169C>T"	""	"pathogenic"	""
"0000539476"	"0"	"90"	"10"	"126091499"	"126091499"	"subst"	"1.62477E-5"	"02327"	"OAT_000062"	"g.126091499G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.124402930G>C"	""	"pathogenic"	""
"0000539477"	"0"	"10"	"10"	"126097544"	"126097544"	"subst"	"0.00178025"	"01943"	"OAT_000077"	"g.126097544A>G"	""	""	""	"OAT(NM_001322966.1):c.200-10T>C, OAT(NM_001322966.2):c.200-10T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.124408975A>G"	""	"benign"	""
"0000539478"	"0"	"70"	"10"	"126100589"	"126100589"	"subst"	"1.21821E-5"	"02327"	"OAT_000003"	"g.126100589C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.124412020C>T"	""	"likely pathogenic"	""
"0000539479"	"0"	"30"	"10"	"126107434"	"126107434"	"subst"	"0"	"01804"	"OAT_000082"	"g.126107434G>A"	""	""	""	"OAT(NM_000274.3):c.-30+8C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.124418865G>A"	""	"likely benign"	""
"0000612355"	"0"	"30"	"10"	"126100693"	"126100693"	"subst"	"0.000166629"	"02330"	"OAT_000085"	"g.126100693G>A"	""	""	""	"OAT(NM_000274.4):c.48C>T (p.R16=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.124412124G>A"	""	"likely benign"	""
"0000622353"	"0"	"30"	"10"	"126094071"	"126094071"	"subst"	"3.24902E-5"	"01943"	"OAT_000083"	"g.126094071G>A"	""	""	""	"OAT(NM_001322966.1):c.582C>T (p.Y194=), OAT(NM_001322966.2):c.582C>T (p.Y194=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.124405502G>A"	""	"likely benign"	""
"0000622354"	"0"	"50"	"10"	"126097436"	"126097436"	"subst"	"0"	"01943"	"OAT_000084"	"g.126097436C>T"	""	""	""	"OAT(NM_001322966.1):c.298G>A (p.A100T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.124408867C>T"	""	"VUS"	""
"0000647856"	"1"	"70"	"10"	"126086524"	"126086524"	"subst"	"1.22578E-5"	"03575"	"OAT_000005"	"g.126086524A>T"	"1/2789 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs386833598}"	"Germline"	""	"rs386833598"	"0"	""	""	"g.124397955A>T"	""	"likely pathogenic"	""
"0000647857"	"1"	"50"	"10"	"126107465"	"126107465"	"subst"	"0"	"03575"	"OAT_000080"	"g.126107465G>A"	"91/2793 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"91 heterozygous; {DB:CLININrs117824913}"	"Germline"	""	"rs117824913"	"0"	""	""	"g.124418896G>A"	""	"VUS"	""
"0000669049"	"3"	"50"	"10"	"126107465"	"126107465"	"subst"	"0"	"03575"	"OAT_000080"	"g.126107465G>A"	"3/2793 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"3 homozygous; {DB:CLININrs117824913}"	"Germline"	""	"rs117824913"	"0"	""	""	"g.124418896G>A"	""	"VUS"	""
"0000678796"	"0"	"50"	"10"	"126089510"	"126089510"	"subst"	"3.66584E-5"	"01943"	"OAT_000023"	"g.126089510C>T"	""	""	""	"OAT(NM_000274.3):c.1058G>A (p.G353D), OAT(NM_001322966.1):c.1058G>A (p.G353D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000678797"	"0"	"50"	"10"	"126089559"	"126089559"	"subst"	"0.000488135"	"01943"	"OAT_000086"	"g.126089559T>C"	""	""	""	"OAT(NM_001322966.1):c.1015-6A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000678798"	"0"	"90"	"10"	"126090318"	"126090318"	"subst"	"2.44666E-5"	"02327"	"OAT_000002"	"g.126090318G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000678799"	"0"	"50"	"10"	"126097462"	"126097462"	"subst"	"1.21852E-5"	"01943"	"OAT_000068"	"g.126097462C>T"	""	""	""	"OAT(NM_001322966.1):c.272G>A (p.G91E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000685324"	"0"	"90"	"10"	"126091495"	"126091495"	"subst"	"0"	"00004"	"OAT_000087"	"g.126091495C>T"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	"IVS7+1G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685325"	"0"	"70"	"10"	"126091596"	"126091596"	"subst"	"4.47646E-5"	"00004"	"OAT_000058"	"g.126091596G>A"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000685326"	"0"	"90"	"10"	"126100582"	"126100582"	"del"	"4.06075E-6"	"00004"	"OAT_000029"	"g.126100582del"	"2/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	"c.159delC"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000714071"	"3"	"70"	"10"	"126092416"	"126092416"	"subst"	"3.65461E-5"	"00000"	"OAT_000055"	"g.126092416G>A"	""	"{PMID:Taylor 2017:28341476}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.124403847G>A"	""	"likely pathogenic (recessive)"	""
"0000722731"	"0"	"30"	"10"	"126097420"	"126097420"	"subst"	"8.52965E-5"	"01943"	"OAT_000088"	"g.126097420A>G"	""	""	""	"OAT(NM_001322966.1):c.314T>C (p.V105A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000733512"	"1"	"70"	"10"	"126097462"	"126097462"	"subst"	"1.21852E-5"	"00000"	"OAT_000068"	"g.126097462C>T"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.124408893C>T"	""	"likely pathogenic"	""
"0000733882"	"2"	"70"	"10"	"126097204"	"126097212"	"del"	"0"	"00000"	"OAT_000041"	"g.126097204_126097212del"	""	"{PMID:Stone 2017:28559085}"	""	"IVS3-6del9cTGATAGGAG"	""	"Germline"	""	""	"0"	""	""	"g.124408635_124408643del"	""	"likely pathogenic"	""
"0000735830"	"3"	"70"	"10"	"126094026"	"126094026"	"subst"	"1.62456E-5"	"00000"	"OAT_000040"	"g.126094026A>T"	""	"{PMID:Riera 2017:28181551}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.124405457A>T"	""	"likely pathogenic"	""
"0000788327"	"0"	"50"	"10"	"126097420"	"126097420"	"subst"	"8.52965E-5"	"00000"	"OAT_000088"	"g.126097420A>G"	""	"{PMID:Katagiri 2014:25268133}"	""	"T314C"	""	"Germline"	""	""	"0"	""	""	"g.124408851A>G"	""	"VUS"	""
"0000804338"	"0"	"90"	"10"	"126089456"	"126089456"	"dup"	"0"	"01943"	"OAT_000089"	"g.126089456dup"	""	""	""	"OAT(NM_001322966.1):c.1112dupT (p.R372Kfs*12)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000819063"	"3"	"70"	"10"	"126097318"	"126097318"	"subst"	"4.06345E-6"	"00000"	"OAT_000090"	"g.126097318A>C"	""	"{PMID:Dineiro 2020:32483926}"	""	"OAT c.416T>G, p.(Met139Arg)"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.124408749A>C"	""	"likely pathogenic"	"ACMG"
"0000819905"	"1"	"70"	"10"	"126091625"	"126091625"	"subst"	"4.09477E-6"	"00000"	"OAT_000091"	"g.126091625C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"OAT, variant 1: c.772-1G>A/p.?, variant 2: c.772-1G>A/p.?"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124403056C>T"	""	"likely pathogenic"	""
"0000824263"	"0"	"90"	"10"	"126086581"	"126086581"	"subst"	"1.62758E-5"	"00000"	"OAT_000009"	"g.126086581G>A"	""	"{PMID:Bell 2021:33494148}"	""	"OAT c.1250C>T, p.Pro417Leu"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.124398012G>A"	""	"pathogenic"	""
"0000824287"	"0"	"90"	"10"	"126094057"	"126094057"	"subst"	"8.12242E-6"	"00000"	"OAT_000008"	"g.126094057G>T"	""	"{PMID:Bell 2021:33494148}"	""	"OAT c.596C>A, p.Pro199Gln"	"compound heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.124405488G>T"	""	"pathogenic"	""
"0000825715"	"0"	"70"	"10"	"126094111"	"126094111"	"subst"	"4.06237E-6"	"00000"	"OAT_000049"	"g.126094111G>A"	""	"{PMID:Liu-2020:33090715}"	""	"c.542C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000825716"	"0"	"70"	"10"	"126092477"	"126092477"	"del"	"0"	"00000"	"OAT_000092"	"g.126092477del"	""	"{PMID:Liu-2020:33090715}"	""	"c.661delG"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000861851"	"0"	"50"	"10"	"126086540"	"126086540"	"subst"	"4.48628E-5"	"01943"	"OAT_000093"	"g.126086540T>C"	""	""	""	"OAT(NM_001322966.1):c.1291A>G (p.I431V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000861852"	"0"	"30"	"10"	"126091487"	"126091487"	"subst"	"7.71912E-5"	"01943"	"OAT_000094"	"g.126091487G>T"	""	""	""	"OAT(NM_001322966.1):c.900+9C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000878726"	"3"	"90"	"10"	"126100738"	"126100738"	"subst"	"0"	"00000"	"OAT_000039"	"g.126100738C>T"	""	"{PMID:Mitchell 1988:3339136}"	""	"OAT G->A transition, changing the initiator ATG (methionine) codon to ATA"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.124412169C>T"	""	"pathogenic"	""
"0000878727"	"3"	"90"	"10"	"126100738"	"126100738"	"subst"	"0"	"00000"	"OAT_000039"	"g.126100738C>T"	""	"{PMID:Mitchell 1988:3339136}"	""	"OAT G->A transition, changing the initiator ATG (methionine) codon to ATA"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.124412169C>T"	""	"pathogenic"	""
"0000878728"	"3"	"90"	"10"	"126100738"	"126100738"	"subst"	"0"	"00000"	"OAT_000039"	"g.126100738C>T"	""	"{PMID:Mitchell 1988:3339136}"	""	"OAT G->A transition, changing the initiator ATG (methionine) codon to ATA"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.124412169C>T"	""	"pathogenic"	""
"0000878729"	"3"	"90"	"10"	"126100738"	"126100738"	"subst"	"0"	"00000"	"OAT_000039"	"g.126100738C>T"	""	"{PMID:Mitchell 1988:3339136}"	""	"OAT G->A transition, changing the initiator ATG (methionine) codon to ATA"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.124412169C>T"	""	"pathogenic"	""
"0000878730"	"11"	"70"	"10"	"0"	"0"	""	"0"	"00000"	"CYP2C9_001038"	"g.?"	""	"{PMID:Hotta 1989:2916581}"	""	"OAT partial deletion EcoRI frgment 5.7 kb to ~5kb"	"heterozygous; second allele unknown"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000878768"	"3"	"70"	"10"	"0"	"0"	""	"0"	"00000"	"CYP2C9_001038"	"g.?"	""	"{PMID:Inana 1988:3417397}"	""	"OAT partial deletion EcoRI frgment ~5.4 Kbp; complete absence of mRNA"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000878784"	"1"	"90"	"10"	"126090357"	"126090357"	"subst"	"1.22277E-5"	"00000"	"OAT_000011"	"g.126090357C>T"	""	"{PMID:Mashima 1999:10617919}"	""	"OAT E318K"	"possible duplicate patient from {PMID:Mashima 1992:1487247}; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.124401788C>T"	""	"pathogenic"	""
"0000878785"	"1"	"90"	"10"	"126090357"	"126090357"	"subst"	"1.22277E-5"	"00000"	"OAT_000011"	"g.126090357C>T"	""	"{PMID:Mashima 1999:10617919}"	""	"OAT E318K"	"possible duplicate patient from {PMID:Mashima 1992:1487247}; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.124401788C>T"	""	"pathogenic"	""
"0000878786"	"1"	"90"	"10"	"126090357"	"126090357"	"subst"	"1.22277E-5"	"00000"	"OAT_000011"	"g.126090357C>T"	""	"{PMID:Mashima 1999:10617919}"	""	"OAT E318K"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.124401788C>T"	""	"pathogenic"	""
"0000878787"	"3"	"90"	"10"	"126090357"	"126090357"	"subst"	"1.22277E-5"	"00000"	"OAT_000011"	"g.126090357C>T"	""	"{PMID:Mashima 1999:10617919}"	""	"OAT E318K"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.124401788C>T"	""	"pathogenic"	""
"0000878788"	"2"	"90"	"10"	"126097208"	"126097208"	"subst"	"0"	"00000"	"OAT_000040"	"g.126097208T>C"	""	"{PMID:Mashima 1999:10617919}"	""	"OAT IVS4 nt-2 a->g"	"exon 4 (described as exon 5) not spliced in; possible duplicate patient from {PMID:Mashima 1992:1487247}; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.124408639T>C"	""	"pathogenic"	""
"0000878789"	"2"	"90"	"10"	"126097208"	"126097208"	"subst"	"0"	"00000"	"OAT_000040"	"g.126097208T>C"	""	"{PMID:Mashima 1999:10617919}"	""	"OAT IVS4 nt-2 a->g"	"exon 4 (described as exon 5) not spliced in; possible duplicate patient from {PMID:Mashima 1992:1487247}; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.124408639T>C"	""	"pathogenic"	""
"0000878790"	"2"	"70"	"10"	"0"	"0"	""	"0"	"00000"	"CYP2C9_001038"	"g.?"	""	"{PMID:Mashima 1999:10617919}"	""	"OAT promoter ?"	"Northern 50% of expression, so probably a heterozygous mutation in the promoter or partial deletion"	"Germline"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000878791"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878792"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878793"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878794"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878795"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878796"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878797"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878798"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878799"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878800"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878801"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878802"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878803"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878804"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878805"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878806"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878807"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878808"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878809"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878810"	"1"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878811"	"2"	"90"	"10"	"126097467"	"126097467"	"subst"	"0"	"00000"	"OAT_000034"	"g.126097467G>T"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT N89K"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124408898G>T"	""	"pathogenic"	""
"0000878812"	"1"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878813"	"2"	"90"	"10"	"126094114"	"126094114"	"subst"	"7.31303E-5"	"00000"	"OAT_000017"	"g.126094114C>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT R180T"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124405545C>G"	""	"pathogenic"	""
"0000878814"	"1"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878815"	"2"	"90"	"10"	"126094114"	"126094114"	"subst"	"7.31303E-5"	"00000"	"OAT_000017"	"g.126094114C>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT R180T"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124405545C>G"	""	"pathogenic"	""
"0000878816"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878817"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878818"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878819"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878820"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878821"	"1"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878822"	"2"	"90"	"10"	"126094114"	"126094114"	"subst"	"7.31303E-5"	"00000"	"OAT_000017"	"g.126094114C>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT R180T"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124405545C>G"	""	"pathogenic"	""
"0000878823"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878824"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878825"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878826"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878827"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878828"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878829"	"3"	"90"	"10"	"126086626"	"126086626"	"subst"	"0.000284611"	"00000"	"OAT_000016"	"g.126086626A>G"	""	"{PMID:Peltola 2001:11297489}"	""	"OAT L402P"	"no nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.124398057A>G"	""	"pathogenic"	""
"0000878830"	"3"	"90"	"10"	"126092461"	"126092461"	"subst"	"1.62441E-5"	"00000"	"OAT_000013"	"g.126092461G>A"	""	"{PMID:Howden 2011:21464322}"	""	"OAT 677C > T, alanine 226 (GCG) to valine (GTG)"	"homozygous"	"In vitro (cloned)"	"?"	""	"0"	""	""	"g.124403892G>A"	""	"pathogenic"	""
"0000878838"	"0"	"90"	"10"	"126097206"	"126097206"	"subst"	"0"	"00000"	"OAT_000042"	"g.126097206C>T"	""	"{PMID:Kim 2013:24082780}"	""	"OAT c.425G>A"	"heterozygous; segregation not performed"	"Germline"	"?"	""	"0"	""	""	"g.124408637C>T"	""	"pathogenic"	""
"0000878839"	"0"	"90"	"10"	"126097206"	"126097206"	"subst"	"0"	"00000"	"OAT_000042"	"g.126097206C>T"	""	"{PMID:Kim 2013:24082780}"	""	"OAT c.425G>A"	"heterozygous; segregation not performed"	"Germline"	"?"	""	"0"	""	""	"g.124408637C>T"	""	"pathogenic"	""
"0000878840"	"0"	"50"	"10"	"126100527"	"126100532"	"dup"	"0"	"00000"	"OAT_000099"	"g.126100527_126100532dup"	""	"{PMID:Kim 2013:24082780}"	""	"OAT c.199+11_199+16dupAATTAA"	"heterozygous; segregation not performed"	"Germline"	"?"	""	"0"	""	""	"g.124411958_124411963dup"	""	"VUS"	""
"0000878841"	"0"	"50"	"10"	"126100527"	"126100532"	"dup"	"0"	"00000"	"OAT_000099"	"g.126100527_126100532dup"	""	"{PMID:Kim 2013:24082780}"	""	"OAT c.199+11_199+16dupAATTAA"	"heterozygous; segregation not performed"	"Germline"	"?"	""	"0"	""	""	"g.124411958_124411963dup"	""	"VUS"	""
"0000878852"	"21"	"70"	"10"	"126097126"	"126097127"	"del"	"0"	"00000"	"OAT_000096"	"g.126097126_126097127del"	""	"{PMID:Katagiri 2014:24429551}"	""	"OAT c.504_505delAA (exon 5) (p.K169DfsX10)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.124408557_124408558del"	""	"likely pathogenic"	""
"0000878853"	"21"	"70"	"10"	"126097126"	"126097127"	"del"	"0"	"00000"	"OAT_000096"	"g.126097126_126097127del"	""	"{PMID:Katagiri 2014:24429551}"	""	"OAT c.504_505delAA (exon 5) (p.K169DfsX10)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.124408557_124408558del"	""	"likely pathogenic"	""
"0000878854"	"11"	"70"	"10"	"126086555"	"126086555"	"subst"	"4.07349E-6"	"00000"	"OAT_000015"	"g.126086555G>A"	""	"{PMID:Katagiri 2014:24429551}"	""	"OAT c.1276C>T (exon 11) (p.R426X)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.124397986G>A"	""	"likely pathogenic"	""
"0000878855"	"11"	"70"	"10"	"126086555"	"126086555"	"subst"	"4.07349E-6"	"00000"	"OAT_000015"	"g.126086555G>A"	""	"{PMID:Katagiri 2014:24429551}"	""	"OAT c.1276C>T (exon 11) (p.R426X)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.124397986G>A"	""	"likely pathogenic"	""
"0000878876"	"3"	"70"	"10"	"126100582"	"126100582"	"del"	"4.06075E-6"	"00000"	"OAT_000029"	"g.126100582del"	""	"{PMID:Heller 2017:28388263}"	""	"OAT c.159delC, p.(H53Qfs7*)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.124412013del"	""	"likely pathogenic"	""
"0000878877"	"21"	"70"	"10"	"126091596"	"126091596"	"subst"	"4.47646E-5"	"00000"	"OAT_000058"	"g.126091596G>A"	""	"{PMID:Heller 2017:28388263}"	""	"OAT c.800C>T, p.Thr267Ile"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.124403027G>A"	""	"likely pathogenic"	""
"0000878878"	"11"	"70"	"10"	"126091495"	"126091495"	"subst"	"0"	"00000"	"OAT_000087"	"g.126091495C>T"	""	"{PMID:Heller 2017:28388263}"	""	"OAT c.900+1 G>A"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.124402926C>T"	""	"likely pathogenic"	""
"0000878893"	"3"	"70"	"10"	"126086524"	"126086524"	"subst"	"1.22578E-5"	"00000"	"OAT_000005"	"g.126086524A>T"	""	"{PMID:Casalino 2018:29654911}"	""	"OAT c.1307T>A, p.Ile436Asn"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.124397955A>T"	""	"likely pathogenic"	""
"0000878896"	"3"	"70"	"10"	"126097158"	"126097158"	"subst"	"0"	"00000"	"OAT_000097"	"g.126097158T>G"	""	"{PMID:Cui 2018:29757052}"	""	"OAT c.473A>C: p.Y158S"	"homozygous"	"Germline"	"?"	""	"0"	""	""	"g.124408589T>G"	""	"likely pathogenic"	""
"0000878897"	"3"	"90"	"10"	"126090315"	"126090315"	"subst"	"4.07667E-6"	"00000"	"OAT_000006"	"g.126090315C>T"	""	"{PMID:Montioli 2018:30251682}"	""	"OAT p.(Val332Met)"	"identified in pyridoxine-responsive patients; data strongly point to misfolding as one of the pathogenic mechanisms explaining the OAT deficit in GA, and support a chaperone role for the PLP coenzyme; no nucleotide annotation, extrapolated from protein and databases; homozygous"	"In vitro (cloned)"	"?"	""	"0"	""	""	"g.124401746C>T"	""	"pathogenic"	""
"0000878898"	"3"	"70"	"10"	"126091526"	"126091528"	"del"	"4.06207E-6"	"00000"	"OAT_000095"	"g.126091526_126091528del"	""	"{PMID:Zekusic 2018:30429681}"	""	"OAT c.868_870delCTT p.(Leu290del)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.124402957_124402959del"	""	"likely pathogenic"	""
"0000878908"	"3"	"70"	"10"	"126097486"	"126097486"	"subst"	"0"	"00000"	"OAT_000098"	"g.126097486C>T"	""	"{PMID:Huang 2018:30366948}"	""	"OAT c.G248A:p.S83N"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.124408917C>T"	""	"likely pathogenic"	""
"0000878909"	"3"	"70"	"10"	"126097486"	"126097486"	"subst"	"0"	"00000"	"OAT_000098"	"g.126097486C>T"	""	"{PMID:Huang 2018:30366948}"	""	"OAT c.G248A:p.S83N"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.124408917C>T"	""	"likely pathogenic"	""
"0000880244"	"2"	"90"	"10"	"126094026"	"126094026"	"subst"	"1.62456E-5"	"00006"	"OAT_000040"	"g.126094026A>T"	""	"{PMID:Mashima 1992:1609808}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000880245"	"1"	"90"	"10"	"126100553"	"126100554"	"del"	"0"	"00006"	"OAT_000032"	"g.126100553_126100554del"	""	"{PMID:Mashima 1992:1609808}"	""	"192_193delAG"	""	"Germline"	""	""	"0"	""	""	"g.124411984_124411985del"	""	"pathogenic (recessive)"	""
"0000880246"	"2"	"90"	"10"	"126094057"	"126094057"	"subst"	"8.12242E-6"	"00006"	"OAT_000008"	"g.126094057G>T"	""	"{PMID:Mashima 1992:1609808}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.124405488G>T"	""	"pathogenic (recessive)"	""
"0000889060"	"0"	"50"	"10"	"126086596"	"126086596"	"subst"	"0"	"02330"	"OAT_000100"	"g.126086596A>G"	""	""	""	"OAT(NM_001322966.2):c.1235T>C (p.I412T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000889061"	"0"	"30"	"10"	"126091643"	"126091643"	"subst"	"0.000357892"	"02330"	"OAT_000101"	"g.126091643A>T"	""	""	""	"OAT(NM_001322966.2):c.772-19T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000905854"	"0"	"90"	"10"	"126090357"	"126090357"	"subst"	"1.22277E-5"	"00000"	"OAT_000011"	"g.126090357C>T"	""	"{PMID:Zhu 2022:35456422}"	""	"OAT c.952G>A, p.(Glu318Lys)"	"heterozygous, probably non-causal incidental finding"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.124401788C>T"	""	"pathogenic"	"ACMG"
"0000925128"	"0"	"30"	"10"	"126094071"	"126094071"	"subst"	"3.24902E-5"	"02330"	"OAT_000083"	"g.126094071G>A"	""	""	""	"OAT(NM_001322966.1):c.582C>T (p.Y194=), OAT(NM_001322966.2):c.582C>T (p.Y194=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000925129"	"0"	"50"	"10"	"126094075"	"126094075"	"subst"	"2.84292E-5"	"02327"	"OAT_000102"	"g.126094075C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000925130"	"0"	"30"	"10"	"126100527"	"126100532"	"dup"	"0"	"02330"	"OAT_000099"	"g.126100527_126100532dup"	""	""	""	"OAT(NM_001322966.2):c.199+11_199+16dupAATTAA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001014608"	"0"	"50"	"10"	"126090372"	"126090372"	"subst"	"8.14876E-6"	"02327"	"OAT_000103"	"g.126090372T>C"	""	""	""	""	"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 OAT
## Count = 233
"{{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}}"
"0000079401"	"00014982"	"00"	"-8388608"	"0"	"2937020"	"0"	"c.-9273523_*2935700dup"	""	""	""
"0000090875"	"00014982"	"90"	"991"	"0"	"991"	"0"	"c.991C>T"	"r.991c>u"	"p.Arg331*"	"8"
"0000090876"	"00014982"	"90"	"991"	"0"	"991"	"0"	"c.991C>T"	"r.991c>u"	"p.Arg331*"	"8"
"0000090877"	"00014982"	"90"	"311"	"0"	"311"	"0"	"c.311A>G"	"r.311a>g"	"p.Gln104Arg"	"3"
"0000090878"	"00014982"	"90"	"1181"	"0"	"1181"	"0"	"c.1181G>A"	"r.1181g>a"	"p.Cys394Tyr"	"10"
"0000090879"	"00014982"	"90"	"1307"	"0"	"1307"	"0"	"c.1307T>A"	"r.1307u>a"	"p.Ile436Asn"	"10"
"0000090880"	"00014982"	"90"	"994"	"0"	"994"	"0"	"c.994G>A"	"r.994g>a"	"p.Val332Met"	"8"
"0000090881"	"00014982"	"90"	"1250"	"0"	"1250"	"0"	"c.1250C>T"	"r.1250c>u"	"p.Pro417Leu"	"10"
"0000090882"	"00014982"	"10"	"1311"	"0"	"1311"	"0"	"c.1311G>T"	"r.1311g>u"	"p.Leu437Phe"	"10"
"0000090883"	"00014982"	"90"	"596"	"0"	"596"	"0"	"c.596C>A"	"r.596c>a"	"p.Pro199Gln"	"5"
"0000090884"	"00014982"	"90"	"952"	"0"	"952"	"0"	"c.952G>A"	"r.952g>a"	"p.Glu318Lys"	"8"
"0000090885"	"00014982"	"70"	"1180"	"0"	"1180"	"0"	"c.1180T>C"	"r.(?)"	"p.(Cys394Arg)"	"10"
"0000090886"	"00014982"	"90"	"1192"	"0"	"1192"	"0"	"c.1192C>T"	"r.(?)"	"p.(Arg398*)"	"10"
"0000090887"	"00014982"	"90"	"677"	"0"	"677"	"0"	"c.677C>T"	"r.(?)"	"p.(Ala226Val)"	"6"
"0000090888"	"00014982"	"70"	"1276"	"0"	"1276"	"0"	"c.1276C>T"	"r.(?)"	"p.(Arg426*)"	"10"
"0000090889"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	"10"
"0000090919"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.1205u>c"	"p.Leu402Pro"	"10"
"0000090920"	"00014982"	"90"	"539"	"0"	"539"	"0"	"c.539G>C"	"r.539g>c"	"p.Arg180Thr"	"5"
"0000090921"	"00014982"	"50"	"539"	"0"	"539"	"0"	"c.539G>C"	"r.539g>c"	"p.Arg180Thr"	"5"
"0000090922"	"00014982"	"97"	"472"	"0"	"486"	"0"	"c.472_486del"	"r.472_486del"	"p.Tyr158_Gly162del"	"4"
"0000090923"	"00014982"	"97"	"710"	"0"	"710"	"0"	"c.710G>A"	"r.(710g>a)"	"p.(Gly237Asp)"	"6"
"0000090928"	"00014982"	"97"	"1118"	"0"	"1118"	"0"	"c.1118G>A"	"r.(1118g>a)"	"p.(Gly373Glu)"	"9"
"0000090929"	"00014982"	"97"	"627"	"0"	"627"	"0"	"c.627T>A"	"r.0"	"p.0"	"5"
"0000090930"	"00014982"	"97"	"897"	"0"	"897"	"0"	"c.897C>G"	"r.(897c>g)"	"p.(Tyr299*)"	"7"
"0000090931"	"00014982"	"97"	"539"	"0"	"539"	"0"	"c.539G>C"	"r.(539g>c)"	"p.(Arg180Thr)"	"5"
"0000090932"	"00014982"	"97"	"1276"	"0"	"1276"	"0"	"c.1276C>T"	"r.(1276c>u)"	"p.(Arg426*)"	"10"
"0000090933"	"00014982"	"97"	"1172"	"0"	"1172"	"0"	"c.1172G>A"	"r.(1172g>a)"	"p.(Trp391*)"	"10"
"0000090934"	"00014982"	"97"	"550"	"0"	"550"	"0"	"c.550G>A"	"r.(550g>a)"	"p.(Ala184Thr)"	"5"
"0000090935"	"00014982"	"97"	"521"	"-172"	"649"	"-744"	"c.521-172_649-744del"	"r.521_648del"	"p.Gly175Cysfs*18"	"4i_5i"
"0000090936"	"00014982"	"97"	"159"	"0"	"159"	"0"	"c.159del"	"r.(?)"	"p.(His53Glnfs*8)"	"2"
"0000090937"	"00014982"	"97"	"3"	"0"	"3"	"0"	"c.3G>A"	"r.(3g>a)"	"p.(Met1?)"	"2"
"0000090938"	"00014982"	"97"	"1250"	"0"	"1250"	"0"	"c.1250C>T"	"r.(1250c>u)"	"p.(Pro417Leu)"	"10"
"0000090939"	"00014982"	"97"	"1311"	"0"	"1311"	"0"	"c.1311G>T"	"r.(1311g>u)"	"p.(Leu437Phe)"	"10"
"0000090940"	"00014982"	"97"	"1180"	"0"	"1180"	"0"	"c.1180T>C"	"r.(1180u>c)"	"p.(Cys394Arg)"	"10"
"0000090941"	"00014982"	"97"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(1205u>c)"	"p.(Leu402Pro)"	"10"
"0000090942"	"00014982"	"97"	"539"	"0"	"539"	"0"	"c.539G>C"	"r.(539g>c)"	"p.(Arg180Thr)"	"5"
"0000090943"	"00014982"	"97"	"1031"	"0"	"1031"	"0"	"c.1031del"	"r.(?)"	"p.(Asn344Thrfs*13)"	"9"
"0000090944"	"00014982"	"97"	"1058"	"0"	"1058"	"0"	"c.1058G>A"	"r.(1058g>a)"	"p.(Gly353Asp)"	"9"
"0000090945"	"00014982"	"97"	"1186"	"0"	"1186"	"0"	"c.1186C>T"	"r.(1186c>u)"	"p.(Arg396*)"	"10"
"0000090946"	"00014982"	"97"	"1201"	"0"	"1201"	"0"	"c.1201G>T"	"r.(1201g>u)"	"p.(Gly401*)"	"10"
"0000090947"	"00014982"	"97"	"163"	"0"	"163"	"0"	"c.163T>C"	"r.(163u>c)"	"p.(Tyr55His)"	"2"
"0000090948"	"00014982"	"97"	"267"	"0"	"267"	"0"	"c.267C>A"	"r.(267c>a)"	"p.(Asn89Lys)"	"3"
"0000090949"	"00014982"	"97"	"278"	"0"	"278"	"0"	"c.278G>T"	"r.(278g>u)"	"p.(Cys93Phe)"	"3"
"0000090950"	"00014982"	"97"	"381"	"0"	"381"	"0"	"c.381dup"	"r.381dupu)"	"p.(Thr128Tyrfs*2)"	"3"
"0000090951"	"00014982"	"97"	"461"	"0"	"461"	"0"	"c.461G>T"	"r.(461g>u)"	"p.(Arg154Leu)"	"4"
"0000090952"	"00014982"	"97"	"550"	"0"	"552"	"0"	"c.550_552del"	"r.(?)"	"p.(Ala184del)"	"5"
"0000090953"	"00014982"	"97"	"722"	"0"	"722"	"0"	"c.722C>T"	"r.(722c>u)"	"p.(Pro241Leu)"	"6"
"0000090954"	"00014982"	"97"	"734"	"0"	"734"	"0"	"c.734A>G"	"r.(734a>g)"	"p.(Tyr245Cys)"	"6"
"0000090955"	"00014982"	"97"	"749"	"0"	"749"	"0"	"c.749G>C"	"r.(749g>c)"	"p.(Arg250Pro)"	"6"
"0000090956"	"00014982"	"97"	"800"	"0"	"800"	"0"	"c.800C>T"	"r.(800c>u)"	"p.(Thr267Ile)"	"7"
"0000090957"	"00014982"	"97"	"808"	"0"	"808"	"0"	"c.808G>C"	"r.(808g>c)"	"p.(Ala270Pro)"	"7"
"0000090958"	"00014982"	"97"	"812"	"0"	"812"	"0"	"c.812G>A"	"r.(812g>a)"	"p.(Arg271Lys)"	"7"
"0000090959"	"00014982"	"97"	"952"	"0"	"952"	"0"	"c.952del"	"r.(?)"	"p.(Glu318Serfs*11)"	"8"
"0000090960"	"00014982"	"97"	"1124"	"0"	"1124"	"0"	"c.1124G>C"	"r.(1124g>c)"	"p.(Gly375Ala)"	"9"
"0000090961"	"00014982"	"97"	"994"	"0"	"994"	"0"	"c.994G>A"	"r.994g>a"	"p.Val332Met"	"8"
"0000090962"	"00014982"	"97"	"162"	"0"	"162"	"0"	"c.162C>A"	"r.162c>a"	"p.Asn54Lys"	"2"
"0000090963"	"00014982"	"97"	"268"	"0"	"268"	"0"	"c.268C>G"	"r.(268c>G)"	"p.(Gln90Glu)"	"3"
"0000090964"	"00014982"	"97"	"978"	"0"	"978"	"0"	"c.978T>A"	"r.(978u>a)"	"p.(Asn326Lys)"	"8"
"0000090965"	"00014982"	"97"	"373"	"0"	"375"	"0"	"c.373_375del"	"r.(?)"	"p.(Glu125del)"	"3"
"0000090966"	"00014982"	"97"	"955"	"0"	"955"	"0"	"c.955C>T"	"r.(955c>u)"	"p.(His319Tyr)"	"8"
"0000090967"	"00014982"	"97"	"425"	"0"	"425"	"0"	"c.425G>A"	"r.(425g>a)"	"p.(Gly142Glu)"	"4"
"0000090968"	"00014982"	"97"	"542"	"0"	"542"	"0"	"c.542C>T"	"r.(542C>u)"	"p.(Thr181Met)"	"5"
"0000090969"	"00014982"	"97"	"1276"	"0"	"1276"	"0"	"c.1276C>T"	"r.(1276c>u)"	"p.(Arg426*)"	"10"
"0000090970"	"00014982"	"97"	"812"	"0"	"812"	"0"	"c.812G>A"	"r.(812g>a)"	"p.(Arg271Lys)"	"7"
"0000090971"	"00014982"	"97"	"583"	"0"	"583"	"0"	"c.583G>T"	"r.(583g>u)"	"p.(Asp195Tyr)"	"5"
"0000090972"	"00014982"	"97"	"812"	"0"	"812"	"0"	"c.812G>A"	"r.(812g>a)"	"p.(Arg271Lys)"	"7"
"0000090973"	"00014982"	"97"	"698"	"0"	"698"	"0"	"c.698A>G"	"r.(698a>g)"	"p.(Gln233Arg)"	"6"
"0000090974"	"00014982"	"97"	"901"	"-2"	"901"	"-2"	"c.901-2A>G"	"r.901_1014del"	"p.(Ser302_Val339del)"	"7i"
"0000090975"	"00014982"	"97"	"677"	"0"	"677"	"0"	"c.677C>T"	"r.(677c>u)"	"p.(Ala226Val)"	"6"
"0000090976"	"00014982"	"97"	"952"	"0"	"952"	"0"	"c.952G>A"	"r.952g>a"	"p.Glu318Lys"	"8"
"0000090977"	"00014982"	"97"	"425"	"-2"	"425"	"-2"	"c.425-2A>G"	"r.425_520del"	"p.Gly142_Ala173del"	"3i"
"0000090978"	"00014982"	"97"	"199"	"303"	"199"	"303"	"c.199+303C>G"	"r.199_200ins199+161_199+302"	"p.(=)"	"2i"
"0000090979"	"00014982"	"97"	"425"	"-4"	"429"	"0"	"c.425-4_429del"	"r.425_520del"	"p.Gly142_Ala173del"	"3i_4"
"0000090980"	"00014982"	"97"	"897"	"0"	"897"	"0"	"c.897C>G"	"r.(897c>g)"	"p.(Tyr299*)"	"7"
"0000090981"	"00014982"	"97"	"533"	"0"	"537"	"0"	"c.533_537del"	"r.(?)"	"p.(Trp178*)"	"5"
"0000090982"	"00014982"	"97"	"994"	"0"	"994"	"0"	"c.994G>A"	"r.(994g>a)"	"p.(Val332Met)"	"8"
"0000090983"	"00014982"	"97"	"994"	"0"	"994"	"0"	"c.994G>A"	"r.(994g>a)"	"p.(Val332Met)"	"8"
"0000090984"	"00014982"	"97"	"1181"	"0"	"1181"	"0"	"c.1181G>A"	"r.(1181g>a)"	"p.(Cys394Tyr)"	"10"
"0000090985"	"00014982"	"97"	"152"	"0"	"152"	"0"	"c.152G>A"	"r.(152g>a)"	"p.(Gly51Asp)"	"2"
"0000090986"	"00014982"	"97"	"1181"	"0"	"1181"	"0"	"c.1181G>A"	"r.(1181g>a)"	"p.(Cys394Tyr)"	"10"
"0000090987"	"00014982"	"97"	"152"	"0"	"152"	"0"	"c.152G>A"	"r.(152g>a)"	"p.(Gly51Asp)"	"2"
"0000090988"	"00014982"	"97"	"991"	"0"	"991"	"0"	"c.991C>T"	"r.(991c>t)"	"p.(Arg331*)"	"8"
"0000090989"	"00014982"	"97"	"991"	"0"	"991"	"0"	"c.991C>T"	"r.(991c>t)"	"p.(Arg331*)"	"8"
"0000090990"	"00014982"	"97"	"311"	"0"	"311"	"0"	"c.311A>G"	"r.(311a>g)"	"p.(Gln104Arg)"	"3"
"0000090991"	"00014982"	"97"	"1181"	"0"	"1181"	"0"	"c.1181G>A"	"r.(1181g>a)"	"p.(Cys394Tyr)"	"10"
"0000090992"	"00014982"	"97"	"1307"	"0"	"1307"	"0"	"c.1307T>A"	"r.(1307t>a)"	"p.(Ile436Asn)"	"10"
"0000090993"	"00014982"	"97"	"1250"	"0"	"1250"	"0"	"c.1250C>T"	"r.1250c>t"	"p.Pro417Leu"	"10"
"0000090994"	"00014982"	"97"	"1311"	"0"	"1311"	"0"	"c.1311G>T"	"r.1311g>t"	"p.Leu437Phe"	"10"
"0000090995"	"00014982"	"97"	"596"	"0"	"596"	"0"	"c.596C>A"	"r.(596c>a)"	"p.(Pro199Gln)"	"5"
"0000090996"	"00014982"	"97"	"952"	"0"	"952"	"0"	"c.952G>A"	"r.(952g>a)"	"p.(Glu318Lys)"	"8"
"0000090997"	"00014982"	"97"	"677"	"0"	"677"	"0"	"c.677C>T"	"r.(677c>u)"	"p.(Ala226Val)"	"6"
"0000090998"	"00014982"	"97"	"1192"	"0"	"1192"	"0"	"c.1192C>T"	"r.(1192c>T)"	"p.(Arg398*)"	"10"
"0000090999"	"00014982"	"97"	"677"	"0"	"677"	"0"	"c.677C>T"	"r.(677c>u)"	"p.(Ala226Val)"	"6"
"0000091000"	"00014982"	"97"	"533"	"0"	"533"	"0"	"c.533G>A"	"r.533g>a"	"p.(Trp178*)"	"5"
"0000091001"	"00014982"	"97"	"824"	"0"	"824"	"0"	"c.824G>A"	"r.901_1014del"	"p.(Trp275*)"	"7"
"0000091002"	"00014982"	"97"	"152"	"0"	"152"	"0"	"c.152G>A"	"r.(152g>a)"	"p.(Gly51Asp)"	"2"
"0000091003"	"00014982"	"97"	"952"	"0"	"952"	"0"	"c.952G>A"	"r.(952g>a)"	"p.(Glu318Lys)"	"8"
"0000091004"	"00014982"	"97"	"1250"	"0"	"1250"	"0"	"c.1250C>T"	"r.(1250c>u)"	"p.(Pro417Leu)"	"10"
"0000091005"	"00014982"	"97"	"596"	"0"	"596"	"0"	"c.596C>A"	"r.(596c>a)"	"p.(Pro199Gln)"	"5"
"0000091006"	"00014982"	"97"	"1250"	"0"	"1250"	"0"	"c.1250C>T"	"r.(1250c>u)"	"p.(Pro417Leu)"	"10"
"0000091007"	"00014982"	"97"	"596"	"0"	"596"	"0"	"c.596C>A"	"r.(596c>a)"	"p.(Pro199Gln)"	"5"
"0000091008"	"00014982"	"97"	"897"	"0"	"897"	"0"	"c.897C>G"	"r.(897c>g)"	"p.(Tyr299*)"	"7"
"0000091009"	"00014982"	"97"	"362"	"0"	"362"	"0"	"c.362G>A"	"r.(362g>a)"	"p.(Gly121Asp)"	"3"
"0000091010"	"00014982"	"97"	"748"	"0"	"748"	"0"	"c.748C>T"	"r.(748c>u)"	"p.(Arg250*)"	"6"
"0000091011"	"00014982"	"97"	"163"	"0"	"163"	"0"	"c.163T>C"	"r.(163u>c)"	"p.(Tyr55His)"	"2"
"0000091012"	"00014982"	"97"	"955"	"0"	"955"	"0"	"c.955C>T"	"r.(955c>u)"	"p.(His319Tyr)"	"8"
"0000091013"	"00014982"	"97"	"272"	"0"	"272"	"0"	"c.272G>A"	"r.(272g>a)"	"p.(Gly91Glu)"	"3"
"0000246924"	"00014982"	"10"	"200"	"-10"	"200"	"-10"	"c.200-10T>C"	"r.(=)"	"p.(=)"	""
"0000293340"	"00014982"	"10"	"199"	"20"	"199"	"20"	"c.199+20G>A"	"r.(=)"	"p.(=)"	""
"0000293341"	"00014982"	"10"	"521"	"-15"	"521"	"-12"	"c.521-15_521-12del"	"r.(=)"	"p.(=)"	""
"0000293342"	"00014982"	"10"	"969"	"0"	"969"	"0"	"c.969C>T"	"r.(?)"	"p.(Tyr323=)"	""
"0000296655"	"00014982"	"10"	"1134"	"0"	"1134"	"0"	"c.1134C>T"	"r.(?)"	"p.(Asn378=)"	""
"0000296656"	"00014982"	"10"	"199"	"19"	"199"	"19"	"c.199+19C>T"	"r.(=)"	"p.(=)"	""
"0000296657"	"00014982"	"10"	"648"	"14"	"648"	"14"	"c.648+14A>G"	"r.(=)"	"p.(=)"	""
"0000337083"	"00014982"	"10"	"648"	"14"	"648"	"14"	"c.648+14A>G"	"r.(=)"	"p.(=)"	""
"0000337088"	"00014982"	"10"	"199"	"19"	"199"	"19"	"c.199+19C>T"	"r.(=)"	"p.(=)"	""
"0000337089"	"00014982"	"30"	"-53"	"0"	"-53"	"0"	"c.-53C>T"	"r.(?)"	"p.(=)"	""
"0000337090"	"00014982"	"10"	"-94"	"0"	"-94"	"0"	"c.-94T>G"	"r.(?)"	"p.(=)"	""
"0000340703"	"00014982"	"10"	"1134"	"0"	"1134"	"0"	"c.1134C>T"	"r.(?)"	"p.(Asn378=)"	""
"0000341984"	"00014982"	"50"	"460"	"0"	"460"	"0"	"c.460C>T"	"r.(?)"	"p.(Arg154Cys)"	""
"0000347683"	"00014982"	"90"	"3"	"0"	"3"	"0"	"c.3G>A"	"r.(?)"	"p.(Met1?)"	""
"0000539476"	"00014982"	"90"	"897"	"0"	"897"	"0"	"c.897C>G"	"r.(?)"	"p.(Tyr299Ter)"	""
"0000539477"	"00014982"	"10"	"200"	"-10"	"200"	"-10"	"c.200-10T>C"	"r.(=)"	"p.(=)"	""
"0000539478"	"00014982"	"70"	"152"	"0"	"152"	"0"	"c.152G>A"	"r.(?)"	"p.(Gly51Asp)"	""
"0000539479"	"00014982"	"30"	"-30"	"8"	"-30"	"8"	"c.-30+8C>T"	"r.(=)"	"p.(=)"	""
"0000612355"	"00014982"	"30"	"48"	"0"	"48"	"0"	"c.48C>T"	"r.(?)"	"p.(Arg16=)"	""
"0000622353"	"00014982"	"30"	"582"	"0"	"582"	"0"	"c.582C>T"	"r.(?)"	"p.(Tyr194=)"	""
"0000622354"	"00014982"	"50"	"298"	"0"	"298"	"0"	"c.298G>A"	"r.(?)"	"p.(Ala100Thr)"	""
"0000647856"	"00014982"	"70"	"1307"	"0"	"1307"	"0"	"c.1307T>A"	"r.(?)"	"p.(Ile436Asn)"	""
"0000647857"	"00014982"	"50"	"-53"	"0"	"-53"	"0"	"c.-53C>T"	"r.(=)"	"p.(=)"	""
"0000669049"	"00014982"	"50"	"-53"	"0"	"-53"	"0"	"c.-53C>T"	"r.(=)"	"p.(=)"	""
"0000678796"	"00014982"	"50"	"1058"	"0"	"1058"	"0"	"c.1058G>A"	"r.(?)"	"p.(Gly353Asp)"	""
"0000678797"	"00014982"	"50"	"1015"	"-6"	"1015"	"-6"	"c.1015-6A>G"	"r.(=)"	"p.(=)"	""
"0000678798"	"00014982"	"90"	"991"	"0"	"991"	"0"	"c.991C>T"	"r.(?)"	"p.(Arg331Ter)"	""
"0000678799"	"00014982"	"50"	"272"	"0"	"272"	"0"	"c.272G>A"	"r.(?)"	"p.(Gly91Glu)"	""
"0000685324"	"00014982"	"90"	"900"	"1"	"900"	"1"	"c.900+1G>A"	"r.spl"	"p.?"	""
"0000685325"	"00014982"	"70"	"800"	"0"	"800"	"0"	"c.800C>T"	"r.(?)"	"p.(Thr267Ile)"	""
"0000685326"	"00014982"	"90"	"159"	"0"	"159"	"0"	"c.159del"	"r.(?)"	"p.(His53Glnfs*8)"	""
"0000714071"	"00014982"	"70"	"722"	"0"	"722"	"0"	"c.722C>T"	"r.(?)"	"p.(Pro241Leu)"	""
"0000722731"	"00014982"	"30"	"314"	"0"	"314"	"0"	"c.314T>C"	"r.(?)"	"p.(Val105Ala)"	""
"0000733512"	"00014982"	"70"	"272"	"0"	"272"	"0"	"c.272G>A"	"r.(?)"	"p.(Gly91Glu)"	""
"0000733882"	"00014982"	"70"	"425"	"-4"	"429"	"0"	"c.425-4_429del"	"r.spl"	"p.?"	""
"0000735830"	"00014982"	"70"	"627"	"0"	"627"	"0"	"c.627T>A"	"r.(?)"	"p.(Tyr209Ter)"	""
"0000788327"	"00014982"	"50"	"314"	"0"	"314"	"0"	"c.314T>C"	"r.(?)"	"p.(Val105Ala)"	"3"
"0000804338"	"00014982"	"90"	"1112"	"0"	"1112"	"0"	"c.1112dup"	"r.(?)"	"p.(Arg372Lysfs*12)"	""
"0000819063"	"00014982"	"70"	"416"	"0"	"416"	"0"	"c.416T>G"	"r.(?)"	"p.(Met139Arg)"	""
"0000819905"	"00014982"	"70"	"772"	"-1"	"772"	"-1"	"c.772-1G>A"	"r.spl"	"p.(?)"	""
"0000824263"	"00014982"	"90"	"1250"	"0"	"1250"	"0"	"c.1250C>T"	"r.(?)"	"p.(Pro417Leu)"	""
"0000824287"	"00014982"	"90"	"596"	"0"	"596"	"0"	"c.596C>A"	"r.(?)"	"p.(Pro199Gln)"	""
"0000825715"	"00014982"	"70"	"542"	"0"	"542"	"0"	"c.542C>T"	"r.(?)"	"p.(Thr181Met)"	"5"
"0000825716"	"00014982"	"70"	"661"	"0"	"661"	"0"	"c.661del"	"r.(?)"	"p.(Asp221Ilefs*9)"	"6"
"0000861851"	"00014982"	"50"	"1291"	"0"	"1291"	"0"	"c.1291A>G"	"r.(?)"	"p.(Ile431Val)"	""
"0000861852"	"00014982"	"30"	"900"	"9"	"900"	"9"	"c.900+9C>A"	"r.(=)"	"p.(=)"	""
"0000878726"	"00014982"	"90"	"3"	"0"	"3"	"0"	"c.3G>A"	"r.(?)"	"p.(Met1?)"	""
"0000878727"	"00014982"	"90"	"3"	"0"	"3"	"0"	"c.3G>A"	"r.(?)"	"p.(Met1?)"	""
"0000878728"	"00014982"	"90"	"3"	"0"	"3"	"0"	"c.3G>A"	"r.(?)"	"p.(Met1?)"	""
"0000878729"	"00014982"	"90"	"3"	"0"	"3"	"0"	"c.3G>A"	"r.(?)"	"p.(Met1?)"	""
"0000878730"	"00014982"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.0"	"p.0"	""
"0000878768"	"00014982"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.0"	"p.0"	""
"0000878784"	"00014982"	"90"	"952"	"0"	"952"	"0"	"c.952G>A"	"r.(?)"	"p.(Glu318Lys)"	""
"0000878785"	"00014982"	"90"	"952"	"0"	"952"	"0"	"c.952G>A"	"r.(?)"	"p.(Glu318Lys)"	""
"0000878786"	"00014982"	"90"	"952"	"0"	"952"	"0"	"c.952G>A"	"r.(?)"	"p.(Glu318Lys)"	""
"0000878787"	"00014982"	"90"	"952"	"0"	"952"	"0"	"c.952G>A"	"r.(?)"	"p.(Glu318Lys)"	""
"0000878788"	"00014982"	"90"	"425"	"-2"	"425"	"-2"	"c.425-2A>G"	"r.spl"	"p.?"	""
"0000878789"	"00014982"	"90"	"425"	"-2"	"425"	"-2"	"c.425-2A>G"	"r.spl"	"p.?"	""
"0000878790"	"00014982"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.0"	"p.0"	""
"0000878791"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878792"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878793"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878794"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878795"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878796"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878797"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878798"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878799"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878800"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878801"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878802"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878803"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878804"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878805"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878806"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878807"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878808"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878809"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878810"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878811"	"00014982"	"90"	"267"	"0"	"267"	"0"	"c.267C>A"	"r.(?)"	"p.(Asn89Lys)"	""
"0000878812"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878813"	"00014982"	"90"	"539"	"0"	"539"	"0"	"c.539G>C"	"r.(?)"	"p.(Arg180Thr)"	""
"0000878814"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878815"	"00014982"	"90"	"539"	"0"	"539"	"0"	"c.539G>C"	"r.(?)"	"p.(Arg180Thr)"	""
"0000878816"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878817"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878818"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878819"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878820"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878821"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878822"	"00014982"	"90"	"539"	"0"	"539"	"0"	"c.539G>C"	"r.(?)"	"p.(Arg180Thr)"	""
"0000878823"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878824"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878825"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878826"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878827"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878828"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878829"	"00014982"	"90"	"1205"	"0"	"1205"	"0"	"c.1205T>C"	"r.(?)"	"p.(Leu402Pro)"	""
"0000878830"	"00014982"	"90"	"677"	"0"	"677"	"0"	"c.677C>T"	"r.(?)"	"p.(Ala226Val)"	""
"0000878838"	"00014982"	"90"	"425"	"0"	"425"	"0"	"c.425G>A"	"r.(?)"	"p.(Gly142Glu)"	""
"0000878839"	"00014982"	"90"	"425"	"0"	"425"	"0"	"c.425G>A"	"r.(?)"	"p.(Gly142Glu)"	""
"0000878840"	"00014982"	"50"	"199"	"11"	"199"	"16"	"c.199+11_199+16dupAATTAA"	"r.spl?"	"p.?"	""
"0000878841"	"00014982"	"50"	"199"	"11"	"199"	"16"	"c.199+11_199+16dupAATTAA"	"r.spl?"	"p.?"	""
"0000878852"	"00014982"	"70"	"505"	"0"	"506"	"0"	"c.505_506del"	"r.(?)"	"p.(Lys169Aspfs*11)"	"5"
"0000878853"	"00014982"	"70"	"505"	"0"	"506"	"0"	"c.505_506del"	"r.(?)"	"p.(Lys169Aspfs*11)"	"5"
"0000878854"	"00014982"	"70"	"1276"	"0"	"1276"	"0"	"c.1276C>T"	"r.(?)"	"p.(Arg426*)"	"11"
"0000878855"	"00014982"	"70"	"1276"	"0"	"1276"	"0"	"c.1276C>T"	"r.(?)"	"p.(Arg426*)"	"11"
"0000878876"	"00014982"	"70"	"159"	"0"	"159"	"0"	"c.159delC"	"r.(?)"	"p.(His53Glnfs*8)"	""
"0000878877"	"00014982"	"70"	"800"	"0"	"800"	"0"	"c.800C>T"	"r.(?)"	"p.(Thr267Ile)"	""
"0000878878"	"00014982"	"70"	"900"	"1"	"900"	"1"	"c.900+1G>A"	"r.772_900del"	"p.(Val258_Pro300del)"	""
"0000878893"	"00014982"	"70"	"1307"	"0"	"1307"	"0"	"c.1307T>A"	"r.(?)"	"p.(Ile436Asn)"	"10"
"0000878896"	"00014982"	"70"	"473"	"0"	"473"	"0"	"c.473A>C"	"r.(?)"	"p.(Tyr158Ser)"	"10"
"0000878897"	"00014982"	"90"	"994"	"0"	"994"	"0"	"c.994G>A"	"r.(?)"	"p.(Val332Met)"	""
"0000878898"	"00014982"	"70"	"868"	"0"	"870"	"0"	"c.868_870delCTT"	"r.(?)"	"p.(Leu290del)"	"10"
"0000878908"	"00014982"	"70"	"248"	"0"	"248"	"0"	"c.248G>A"	"r.(?)"	"p.(Ser83Asn)"	"3"
"0000878909"	"00014982"	"70"	"248"	"0"	"248"	"0"	"c.248G>A"	"r.(?)"	"p.(Ser83Asn)"	"3"
"0000880244"	"00014982"	"90"	"627"	"0"	"627"	"0"	"c.627T>A"	"r.627u>a"	"p.Tyr209*"	"5"
"0000880245"	"00014982"	"90"	"192"	"0"	"193"	"0"	"c.192_193del"	"r.(?)"	"p.(Gly65Lysfs*15)"	""
"0000880246"	"00014982"	"90"	"596"	"0"	"596"	"0"	"c.596C>A"	"r.(?)"	"p.(Pro199Gln)"	""
"0000889060"	"00014982"	"50"	"1235"	"0"	"1235"	"0"	"c.1235T>C"	"r.(?)"	"p.(Ile412Thr)"	""
"0000889061"	"00014982"	"30"	"772"	"-19"	"772"	"-19"	"c.772-19T>A"	"r.(=)"	"p.(=)"	""
"0000905854"	"00014982"	"90"	"952"	"0"	"952"	"0"	"c.952G>A"	"r.(?)"	"p.(Glu318Lys)"	""
"0000925128"	"00014982"	"30"	"582"	"0"	"582"	"0"	"c.582C>T"	"r.(?)"	"p.(Tyr194=)"	""
"0000925129"	"00014982"	"50"	"578"	"0"	"578"	"0"	"c.578G>A"	"r.(?)"	"p.(Ser193Asn)"	""
"0000925130"	"00014982"	"30"	"199"	"11"	"199"	"16"	"c.199+11_199+16dup"	"r.(=)"	"p.(=)"	""
"0001014608"	"00014982"	"50"	"937"	"0"	"937"	"0"	"c.937A>G"	"r.(?)"	"p.(Thr313Ala)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 198
"{{screeningid}}"	"{{variantid}}"
"0000050421"	"0000079401"
"0000059767"	"0000090875"
"0000059768"	"0000090878"
"0000059769"	"0000090879"
"0000059770"	"0000090880"
"0000059771"	"0000090884"
"0000059772"	"0000090888"
"0000059773"	"0000090889"
"0000059785"	"0000090919"
"0000059786"	"0000090920"
"0000059787"	"0000090921"
"0000059788"	"0000090923"
"0000059789"	"0000090932"
"0000059790"	"0000090936"
"0000059791"	"0000090937"
"0000059792"	"0000090941"
"0000059793"	"0000090942"
"0000059794"	"0000090943"
"0000059795"	"0000090945"
"0000059796"	"0000090946"
"0000059797"	"0000090951"
"0000059798"	"0000090955"
"0000059799"	"0000090957"
"0000059800"	"0000090958"
"0000059801"	"0000090959"
"0000059802"	"0000090961"
"0000059803"	"0000090962"
"0000059804"	"0000090963"
"0000059805"	"0000090966"
"0000059806"	"0000090967"
"0000059807"	"0000090968"
"0000059808"	"0000090969"
"0000059809"	"0000090972"
"0000059810"	"0000090973"
"0000059811"	"0000090978"
"0000059812"	"0000090982"
"0000059813"	"0000090983"
"0000059814"	"0000090988"
"0000059815"	"0000090991"
"0000059816"	"0000090992"
"0000059817"	"0000090996"
"0000059818"	"0000090997"
"0000059819"	"0000091000"
"0000059820"	"0000091002"
"0000059821"	"0000091013"
"0000060084"	"0000090876"
"0000060084"	"0000090877"
"0000060085"	"0000090881"
"0000060085"	"0000090882"
"0000060085"	"0000090883"
"0000060086"	"0000090885"
"0000060087"	"0000090886"
"0000060087"	"0000090887"
"0000060105"	"0000090922"
"0000060108"	"0000090928"
"0000060108"	"0000090929"
"0000060109"	"0000090930"
"0000060109"	"0000090931"
"0000060110"	"0000090933"
"0000060111"	"0000090934"
"0000060112"	"0000090935"
"0000060112"	"0000880244"
"0000060113"	"0000090938"
"0000060114"	"0000090939"
"0000060115"	"0000090940"
"0000060116"	"0000090944"
"0000060117"	"0000090947"
"0000060118"	"0000090948"
"0000060119"	"0000090949"
"0000060120"	"0000090950"
"0000060121"	"0000090952"
"0000060122"	"0000090953"
"0000060123"	"0000090954"
"0000060124"	"0000090956"
"0000060125"	"0000090960"
"0000060126"	"0000090964"
"0000060126"	"0000090965"
"0000060127"	"0000090970"
"0000060127"	"0000090971"
"0000060128"	"0000090974"
"0000060128"	"0000090975"
"0000060129"	"0000090976"
"0000060129"	"0000090977"
"0000060130"	"0000090979"
"0000060131"	"0000090980"
"0000060131"	"0000090981"
"0000060132"	"0000090984"
"0000060132"	"0000090985"
"0000060133"	"0000090986"
"0000060133"	"0000090987"
"0000060134"	"0000090989"
"0000060134"	"0000090990"
"0000060135"	"0000090993"
"0000060135"	"0000090994"
"0000060135"	"0000090995"
"0000060136"	"0000090998"
"0000060136"	"0000090999"
"0000060137"	"0000091001"
"0000060138"	"0000091003"
"0000060139"	"0000091004"
"0000060139"	"0000091005"
"0000060140"	"0000091006"
"0000060140"	"0000091007"
"0000060141"	"0000091008"
"0000060141"	"0000091009"
"0000060142"	"0000091010"
"0000060142"	"0000091011"
"0000060143"	"0000091012"
"0000145016"	"0000788327"
"0000291167"	"0000647856"
"0000291168"	"0000647857"
"0000305361"	"0000669049"
"0000310413"	"0000685324"
"0000310414"	"0000685325"
"0000310415"	"0000685326"
"0000329714"	"0000714071"
"0000335503"	"0000733512"
"0000335503"	"0000733882"
"0000336455"	"0000735830"
"0000389804"	"0000819063"
"0000390560"	"0000819905"
"0000393501"	"0000824263"
"0000393501"	"0000824287"
"0000394722"	"0000825715"
"0000394722"	"0000825716"
"0000418831"	"0000878726"
"0000418832"	"0000878727"
"0000418833"	"0000878728"
"0000418834"	"0000878729"
"0000418835"	"0000878730"
"0000418865"	"0000878768"
"0000418878"	"0000878784"
"0000418878"	"0000878788"
"0000418879"	"0000878785"
"0000418879"	"0000878789"
"0000418880"	"0000878786"
"0000418880"	"0000878790"
"0000418881"	"0000878787"
"0000418884"	"0000878791"
"0000418885"	"0000878792"
"0000418886"	"0000878793"
"0000418887"	"0000878794"
"0000418888"	"0000878795"
"0000418889"	"0000878796"
"0000418890"	"0000878797"
"0000418891"	"0000878798"
"0000418892"	"0000878799"
"0000418893"	"0000878800"
"0000418894"	"0000878801"
"0000418895"	"0000878802"
"0000418896"	"0000878803"
"0000418897"	"0000878804"
"0000418898"	"0000878805"
"0000418899"	"0000878806"
"0000418900"	"0000878807"
"0000418901"	"0000878808"
"0000418902"	"0000878809"
"0000418903"	"0000878810"
"0000418903"	"0000878811"
"0000418904"	"0000878812"
"0000418904"	"0000878813"
"0000418905"	"0000878814"
"0000418905"	"0000878815"
"0000418906"	"0000878816"
"0000418907"	"0000878817"
"0000418908"	"0000878818"
"0000418909"	"0000878819"
"0000418910"	"0000878820"
"0000418911"	"0000878821"
"0000418911"	"0000878822"
"0000418912"	"0000878823"
"0000418913"	"0000878824"
"0000418914"	"0000878825"
"0000418915"	"0000878826"
"0000418916"	"0000878827"
"0000418917"	"0000878828"
"0000418918"	"0000878829"
"0000418919"	"0000878830"
"0000418925"	"0000878838"
"0000418925"	"0000878840"
"0000418926"	"0000878839"
"0000418926"	"0000878841"
"0000418938"	"0000878852"
"0000418938"	"0000878854"
"0000418939"	"0000878853"
"0000418939"	"0000878855"
"0000418961"	"0000878876"
"0000418962"	"0000878877"
"0000418962"	"0000878878"
"0000418971"	"0000878893"
"0000418974"	"0000878896"
"0000418975"	"0000878897"
"0000418976"	"0000878898"
"0000418986"	"0000878908"
"0000418987"	"0000878909"
"0000420015"	"0000880245"
"0000420015"	"0000880246"
"0000428221"	"0000905854"