### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = LRAT)
# 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}}"
"LRAT"	"lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)"	"4"	"q32.1"	"unknown"	"NG_009110.1"	"UD_139401223535"	""	"https://www.LOVD.nl/LRAT"	""	"1"	"6685"	"9227"	"604863"	"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 supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"http://databases.lovd.nl/shared/refseq/LRAT_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00006"	"2012-07-06 00:00:00"	"00006"	"2017-02-04 22:28:05"	"00000"	"2025-07-08 13:22:38"


## 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}}"
"00023999"	"LRAT"	"lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)"	"002"	"NM_004744.3"	""	"NP_004735.2"	""	""	""	"-213"	"4675"	"693"	"154744011"	"154753118"	"00006"	"2014-12-28 10:08:48"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{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"
"03313"	"LCA14"	"Leber congenital amaurosis, type 14 (LCA-14)"	"AR"	"613341"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04210"	"LCA"	"Leber congenital amaurosis (LCA)"	""	""	""	""	""	"00006"	"2015-02-27 18:57:11"	""	""
"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}}"
"LRAT"	"03313"


## Individuals ## Do not remove or alter this header ##
## Count = 84
"{{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}}"
"00100068"	""	""	""	"1"	""	"01769"	"{PMID:Li 2017:28418496}"	""	"F"	"no"	"Pakistan"	""	"0"	""	""	"Pakistani"	"61076"
"00100080"	""	""	""	"1"	""	"01769"	"{PMID:Li 2017:28418496}"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"61120"
"00170851"	""	""	""	"1"	""	"00244"	"Manuscript under review (González-del Pozo et al., 2018)"	""	"F"	"yes"	"Spain"	""	"0"	""	""	""	"IRD4.0_#21"
"00232606"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00232607"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00308613"	""	""	""	"1"	""	"00004"	"{PMID:Holtan 2020:31429209}"	"1 homozygous patient"	""	""	"Norway"	""	"0"	""	""	""	""
"00308614"	""	""	""	"1"	""	"00004"	"{PMID:Holtan 2020:31429209}"	"1 homozygous patient"	""	""	"Norway"	""	"0"	""	""	""	""
"00325423"	""	""	""	"1"	""	"00006"	"{PMID:Zenteno 2020:31736247}"	""	""	""	"Mexico"	""	"0"	""	""	""	"1274"
"00325487"	""	""	""	"1"	""	"00006"	"{PMID:Zenteno 2020:31736247}"	"single patient"	""	""	"Mexico"	""	"0"	""	""	""	"3580"
"00332271"	""	""	""	"1"	""	"00000"	"{PMID:Porto 2017:29186038}"	"proband"	""	""	"Brazil"	""	"0"	""	""	""	"Fam19PatFBP_55"
"00359080"	""	""	""	"1"	""	"00000"	"{PMID:Ellingford 2016:27208204}"	"patient"	""	""	""	""	"0"	""	""	""	"12004275"
"00363699"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"12DG1182"
"00373837"	""	""	""	"1"	""	"00000"	"{PMID:Zhao 2015:25472526}"	"simplex case"	""	""	"Northern Ireland"	""	"0"	""	""	""	"Rp1"
"00375332"	""	""	""	"1"	""	"00000"	"{PMID:Oishi 2014:25324289}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"K1153"
"00376765"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"F"	""	"United States"	""	"0"	""	""	""	"27"
"00376772"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"36"
"00376784"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"50"
"00376855"	""	""	""	"1"	""	"00000"	"{PMID:Coppieters 2014:24625443}"	"see paper"	""	"yes"	"Turkey"	""	"0"	""	""	""	"Fam2"
"00377540"	""	""	""	"1"	""	"00000"	"{PMID:Hosono 2018:29844330}"	"proband, family JIKEI-145"	"F"	"no"	"Japan"	""	"0"	""	""	"Asian"	"JU1039"
"00377541"	""	""	""	"1"	""	"00000"	"{PMID:Hosono 2018:29844330}"	"sister of JU1039, family JIKEI-145"	"F"	"no"	"Japan"	""	"0"	""	""	"Asian"	"JU1040"
"00379379"	""	""	""	"1"	""	"00000"	"{PMID:Collin-2011:21217109}"	""	"F"	""	"Netherlands"	""	"0"	""	""	""	""
"00379519"	""	""	""	"1"	""	"00000"	"{PMID:Littink-2012:22559933}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00379520"	""	""	""	"1"	""	"00000"	"{PMID:Littink-2012:22559933}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00379521"	""	""	""	"1"	""	"00000"	"{PMID:Littink-2012:22559933}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00379522"	""	""	""	"1"	""	"00000"	"{PMID:Littink-2012:22559933}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00380129"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2018:30054919}"	""	""	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"11DG0632"
"00380133"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2018:30054919}"	""	""	"likely"	"Saudi Arabia"	""	"0"	""	""	""	"12DG0405"
"00381191"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	""	""	"no"	""	""	"0"	""	""	""	""
"00381212"	""	""	""	"1"	""	"00008"	"{PMID:Wang-2013:23847139}"	"novel LOF mutations"	""	"no"	""	""	"0"	""	""	""	""
"00381643"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"M"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	""
"00381644"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"F"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00382560"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"422"
"00382636"	""	""	""	"1"	""	"00000"	"{PMID:Gonzalez del Pozo 2018:30190494}"	""	"?"	"yes"	"Spain"	""	"0"	""	""	""	"D (II:1)"
"00382799"	""	""	""	"1"	""	"00000"	"{PMID:Song-2011:22025579}"	""	"F"	""	""	""	"0"	""	""	""	""
"00383067"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383923"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-0479"
"00384192"	""	""	""	"1"	""	"00000"	"{PMID:Tayebi 2019:30820146}"	""	""	""	"Iran"	""	"0"	""	""	""	"066852"
"00384193"	""	""	""	"1"	""	"00000"	"{PMID:Tayebi 2019:30820146}"	""	""	""	"Iran"	""	"0"	""	""	""	"066853"
"00389509"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 312, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"793"
"00389848"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 780, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1132"
"00391659"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"55"
"00391660"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"56"
"00391661"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"57"
"00391662"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"58"
"00391663"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"59"
"00391664"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"60"
"00391729"	""	""	""	"1"	""	"00000"	"{PMID:Sallum 2020:32865313}"	""	"?"	""	"Brazil"	""	"0"	""	""	""	"116"
"00396209"	""	""	""	"1"	""	"00000"	"{PMID:SkorczykWerner 2020:33308271}"	""	"F"	""	""	""	"0"	""	""	"Polish"	""
"00406595"	""	""	""	"1"	""	"00000"	"{PMID:Preising 2007:17525851}"	"family 293, individual 1"	"?"	""	""	""	"0"	""	""	""	"293_1"
"00409869"	""	""	""	"1"	""	"00000"	"{PMID:Borman 2012:22570351}"	""	"M"	"yes"	""	""	"0"	""	""	"South-east Asian"	"1"
"00409870"	""	""	""	"1"	""	"00000"	"{PMID:Borman 2012:22570351}"	""	"F"	"yes"	""	""	"0"	""	""	"white"	"2"
"00409871"	""	""	""	"1"	""	"00000"	"{PMID:Borman 2012:22570351}"	""	"M"	"no"	""	""	"0"	""	""	"white"	"3"
"00409872"	""	""	""	"1"	""	"00000"	"{PMID:Borman 2012:22570351}"	""	"F"	"no"	""	""	"0"	""	""	"Caribbean"	"4"
"00409873"	""	""	""	"1"	""	"00000"	"{PMID:Thompson 2001:11381255}"	""	"F"	"yes"	""	""	"0"	""	""	""	"arRP186"
"00409874"	""	""	""	"1"	""	"00000"	"{PMID:Thompson 2001:11381255}"	""	"F"	"yes"	""	""	"0"	""	""	""	"arRP824"
"00409875"	""	""	""	"1"	""	"00000"	"{PMID:Thompson 2001:11381255}"	""	"M"	"no"	""	""	"0"	""	""	""	"2910"
"00409876"	""	""	""	"1"	""	"00000"	"{PMID:Senechal 2006:17011878}"	""	"F"	""	""	""	"0"	""	""	""	"1"
"00409877"	""	""	""	"1"	""	"00000"	"{PMID:Senechal 2006:17011878}"	""	"M"	"yes"	""	""	"0"	""	""	""	"2"
"00409878"	""	""	""	"1"	""	"00000"	"{PMID:Bussieres 2007:21821024}"	"cell line investigation (HEK cells)"	""	""	""	""	"0"	""	""	""	"?"
"00409879"	""	""	""	"1"	""	"00000"	"{PMID:Scholl 2015:26656277}"	"M"	""	""	""	""	"0"	""	"daily oral dose of 40 mg/m2/day 9-cis-retinyl acetate (QLT091001)"	""	"110"
"00409880"	""	""	""	"1"	""	"00000"	"{PMID:Scholl 2015:26656277}"	"M"	""	""	""	""	"0"	""	"daily oral dose of 40 mg/m2/day 9-cis-retinyl acetate (QLT091001)"	""	"111"
"00409881"	""	""	""	"1"	""	"00000"	"{PMID:Scholl 2015:26656277}"	"M"	""	""	""	""	"0"	""	"daily oral dose of 40 mg/m2/day 9-cis-retinyl acetate (QLT091001)"	""	"117"
"00409884"	""	""	""	"1"	""	"00000"	"{PMID:Scholl 2015:26656277}"	"F"	""	""	""	""	"0"	""	"daily oral dose of 40 mg/m2/day 9-cis-retinyl acetate (QLT091001)"	""	"202"
"00409886"	""	""	""	"1"	""	"00000"	"{PMID:Scholl 2015:26656277}"	"F"	""	""	""	""	"0"	""	"daily oral dose of 40 mg/m2/day 9-cis-retinyl acetate (QLT091001)"	""	"302"
"00409897"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2018:29973277}"	"family 61254"	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"fam61254pat7"
"00409898"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2018:29973277}"	"family 61254"	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"fam61254pat8"
"00409899"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2018:29973277}"	"family 61254"	"M"	"yes"	"Pakistan"	""	"0"	""	""	""	"fam61254pat32"
"00409900"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2018:29973277}"	"family 61254"	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	"fam61254pat33"
"00409901"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2018:29973277}"	"family 61254"	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	"fam61254pat42"
"00409902"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2018:29973277}"	"family 61254"	"F"	"yes"	"Pakistan"	""	"0"	""	""	""	"fam61254pat43"
"00409929"	""	""	""	"1"	""	"00000"	"{PMID:Talib 2019:31448181}"	"sibling of II"	"M"	""	""	""	"0"	""	""	"Dutch"	"I"
"00409930"	""	""	""	"1"	""	"00000"	"{PMID:Talib 2019:31448181}"	"sibling of I"	"M"	""	""	""	"0"	""	""	"Dutch"	"II"
"00409931"	""	""	""	"1"	""	"00000"	"{PMID:Talib 2019:31448181}"	""	"F"	""	""	""	"0"	""	""	"Dutch"	"III"
"00409932"	""	""	""	"1"	""	"00000"	"{PMID:Talib 2019:31448181}"	""	"M"	""	""	""	"0"	""	""	"Dutch"	"IV"
"00409933"	""	""	""	"1"	""	"00000"	"{PMID:Talib 2019:31448181}"	""	"F"	""	""	""	"0"	""	""	"Dutch"	"V"
"00409934"	""	""	""	"1"	""	"00000"	"{PMID:Talib 2019:31448181}"	""	"M"	""	""	""	"0"	""	""	"Dutch"	"VI"
"00409935"	""	""	""	"1"	""	"00000"	"{PMID:Talib 2019:31448181}"	""	"F"	""	""	""	"0"	""	""	"Dutch"	"VII"
"00409936"	""	""	""	"1"	""	"00000"	"{PMID:Talib 2019:31448181}"	""	"M"	""	""	""	"0"	""	""	"Dutch"	"VIII"
"00409937"	""	""	""	"1"	""	"00000"	"{PMID:Talib 2019:31448181}"	""	"M"	""	""	""	"0"	""	""	"Dutch"	"IX"
"00409938"	""	""	""	"1"	""	"00000"	"{PMID:Talib 2019:31448181}"	""	"F"	""	""	""	"0"	""	""	"Dutch"	"X"
"00409939"	""	""	""	"1"	""	"00000"	"{PMID:Talib 2019:31448181}"	""	"F"	""	""	""	"0"	""	""	"Dutch"	"XI"
"00409940"	""	""	""	"1"	""	"00000"	"{PMID:Talib 2019:31448181}"	""	"F"	""	""	""	"0"	""	""	"Dutch"	"XII"
"00409941"	""	""	""	"1"	""	"00000"	"{PMID:Talib 2019:31448181}"	""	"M"	""	""	""	"0"	""	""	"Turkish-Belgian"	"XIII"
"00447555"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"LCA-156"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 84
"{{individualid}}"	"{{diseaseid}}"
"00100068"	"04214"
"00100080"	"04214"
"00170851"	"04210"
"00232606"	"04214"
"00232607"	"04214"
"00308613"	"04214"
"00308614"	"04214"
"00325423"	"04214"
"00325487"	"04214"
"00332271"	"04214"
"00359080"	"04214"
"00363699"	"04214"
"00373837"	"04214"
"00375332"	"04214"
"00376765"	"04214"
"00376772"	"04214"
"00376784"	"04214"
"00376855"	"04214"
"00377540"	"04214"
"00377541"	"04214"
"00379379"	"04214"
"00379519"	"04214"
"00379520"	"04214"
"00379521"	"04214"
"00379522"	"04214"
"00380129"	"04214"
"00380133"	"04214"
"00381191"	"04214"
"00381212"	"04214"
"00381643"	"04214"
"00381644"	"04214"
"00382560"	"04214"
"00382636"	"04214"
"00382799"	"04214"
"00383067"	"04214"
"00383923"	"04214"
"00384192"	"04214"
"00384193"	"04214"
"00389509"	"04214"
"00389848"	"04214"
"00391659"	"04214"
"00391660"	"04214"
"00391661"	"04214"
"00391662"	"04214"
"00391663"	"04214"
"00391664"	"04214"
"00391729"	"04214"
"00396209"	"04214"
"00406595"	"04214"
"00409869"	"04214"
"00409870"	"04214"
"00409871"	"04214"
"00409872"	"04214"
"00409873"	"04214"
"00409874"	"04214"
"00409875"	"04214"
"00409876"	"04214"
"00409877"	"04214"
"00409878"	"04214"
"00409879"	"04214"
"00409880"	"04214"
"00409881"	"04214"
"00409884"	"04214"
"00409886"	"04214"
"00409897"	"04214"
"00409898"	"04214"
"00409899"	"04214"
"00409900"	"04214"
"00409901"	"04214"
"00409902"	"04214"
"00409929"	"04214"
"00409930"	"04214"
"00409931"	"04214"
"00409932"	"04214"
"00409933"	"04214"
"00409934"	"04214"
"00409935"	"04214"
"00409936"	"04214"
"00409937"	"04214"
"00409938"	"04214"
"00409939"	"04214"
"00409940"	"04214"
"00409941"	"04214"
"00447555"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 03313, 04210, 04214
## Count = 82
"{{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}}"
"0000078309"	"04214"	"00100068"	"01769"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000078320"	"04214"	"00100080"	"01769"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000135712"	"04210"	"00170851"	"00244"	"Familial, autosomal recessive"	"29y"	""	"01y"	""	""	""	""	""	""	""	""	""	""
"0000234041"	"04214"	"00308613"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000234042"	"04214"	"00308614"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000243910"	"04214"	"00325423"	"00006"	"Familial, autosomal recessive"	""	"Leber congenital amaurosis"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000243974"	"04214"	"00325487"	"00006"	"Unknown"	""	"retinitis pigmentosa"	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000250458"	"04214"	"00332271"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis, early-onset retinal dystrophy"	""
"0000254377"	"04214"	"00359080"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis or early onset rod-cone dystrophy"	""
"0000259049"	"04214"	"00363699"	"00000"	"Isolated (sporadic)"	""	"non-syndromic"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, cone-rod dystrophy"	""
"0000269046"	"04214"	"00373837"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270546"	"04214"	"00375332"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000271976"	"04214"	"00376765"	"00000"	"Familial, autosomal recessive"	"39y"	""	""	""	""	""	""	""	""	""	""	"Nyctalopia, decreased peripheral vision, history of plaquenil"	""
"0000271983"	"04214"	"00376772"	"00000"	"Familial, autosomal dominant"	"29y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000271995"	"04214"	"00376784"	"00000"	"Familial, X-linked"	"5y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272066"	"04214"	"00376855"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"early-onset retinal dystrophy"	""
"0000272690"	"04214"	"00377540"	"00000"	"Familial, autosomal recessive"	""	"see paper"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"retinal disease"	""
"0000272691"	"04214"	"00377541"	"00000"	"Familial, autosomal recessive"	""	"see paper"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"retinal disease"	""
"0000273252"	"04214"	"00379379"	"00000"	"Unknown"	"7y"	""	"5y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000273392"	"04214"	"00379519"	"00000"	"Familial, autosomal recessive"	"19y"	"Normal optic disc, slightly attenuated vasculature, absent foveolar reflex, irregular pigmentation with many small white dots in mid-periphery."	"4y"	""	""	""	""	""	""	""	""	"retinitis punctata albescens (RPA)"	""
"0000273393"	"04214"	"00379520"	"00000"	"Familial, autosomal recessive"	"7y"	"Pale optic disc, normal vasculature, small white dots and granular aspect in mid-periphery."	"5y"	""	""	""	""	""	""	""	""	"retinitis punctata albescens (RPA)"	""
"0000273394"	"04214"	"00379521"	"00000"	"Familial, autosomal recessive"	"12y"	"Normal optic disc, mildly attenuated vasculature, normal macula, in periphery white dots and granular appearance."	"4y"	""	""	""	""	""	""	""	""	"retinitis punctata albescens (RPA)"	""
"0000273395"	"04214"	"00379522"	"00000"	"Familial, autosomal recessive"	"12y"	"Normal optic disc, mildly attenuated vasculature, granular aspect of the macula, in periphery few white dots, granular appearance."	"4y"	""	""	""	""	""	""	""	""	"retinitis punctata albescens (RPA)"	""
"0000273984"	"04214"	"00380129"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000273988"	"04214"	"00380133"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000275042"	"04214"	"00381191"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000275063"	"04214"	"00381212"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000275485"	"04214"	"00381643"	"00000"	"Familial, autosomal recessive"	""	""	"19y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000275486"	"04214"	"00381644"	"00000"	"Familial, autosomal recessive"	""	""	"11y"	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000276409"	"04214"	"00382560"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276485"	"04214"	"00382636"	"00000"	"Familial, autosomal recessive"	"1y"	"additional photophobia; consang."	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000276655"	"04214"	"00382799"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Usher syndrome"	""
"0000276857"	"04214"	"00383067"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000277708"	"04214"	"00383923"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277977"	"04214"	"00384192"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277978"	"04214"	"00384193"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000283050"	"04214"	"00389509"	"00000"	"Familial, autosomal recessive"	"43y"	"age at genetic diagnosis mentioned"	""	"40y"	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""	""
"0000283389"	"04214"	"00389848"	"00000"	"Isolated (sporadic)"	"48y"	"age at genetic diagnosis mentioned"	""	"41y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000284984"	"04214"	"00391659"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: 20/200;20/100"	"1y"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284985"	"04214"	"00391660"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: 20/80:20/80"	"6m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284986"	"04214"	"00391661"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: 20/1600;20/1600"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284987"	"04214"	"00391662"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: 20/100;20/60"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284988"	"04214"	"00391663"	"00000"	"Unknown"	""	""	"<1y"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000284989"	"04214"	"00391664"	"00000"	"Unknown"	""	"best corrected visual acuity right/left eye: 20/320;20/320"	"0m"	""	""	""	""	""	""	""	"Leber congenital  amaurosis"	""	""
"0000285054"	"04214"	"00391729"	"00000"	"Unknown"	""	""	"<2y"	""	""	""	""	""	""	""	"early-onset retinal dystrophy"	""	""
"0000289371"	"04214"	"00396209"	"00000"	"Familial, autosomal recessive"	"3y"	"1 month: nystagmus the oculo-digital sign"	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000299070"	"04214"	"00406595"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000301983"	"04214"	"00409869"	"00000"	"Familial, autosomal recessive"	"27y"	"nyctalopia, visual field constriction, reduced vision, photophilia, poor color vision, prolonged photopic to mesopic adaptation; best corrected visual acuity right/left eye: 0.22/0.90; electroretinography (pattern): some bilateral macular preservation, full-field: undetectable"	"3y"	""	""	""	""	""	""	""	"early onset retinal dystrophy"	""	""
"0000301984"	"04214"	"00409870"	"00000"	"Familial, autosomal recessive"	"54y"	"nyctalopia, visual field constriction, reduced vision, no photophilia, poor color vision, prolonged photopic to mesopic adaptation; best corrected visual acuity right/left eye: 0.66/hand movement; electroretinography (pattern): severe bilateral macular dysfunction, full-field: undetectable"	"1y"	""	""	""	""	""	""	""	"early onset retinal dystrophy"	""	""
"0000301985"	"04214"	"00409871"	"00000"	"Familial, autosomal recessive"	"41y"	"nyctalopia, visual field constriction, reduced vision, photophilia, poor color vision, prolonged photopic to mesopic adaptation; best corrected visual acuity right/left eye: hand movement/1.80; electroretinography (pattern): severe bilateral macular dysfunction, full-field: severe photoreceptor dysfunction"	"1y"	""	""	""	""	""	""	""	"early onset retinal dystrophy"	""	""
"0000301986"	"04214"	"00409872"	"00000"	"Familial, autosomal recessive"	"31y"	"nyctalopia, visual field constriction, reduced vision, photophilia, poor color vision; best corrected visual acuity right/left eye: 0.80/0.50; electroretinography (pattern): not available, full-field: not available"	"2y"	""	""	""	""	""	""	""	"early onset retinal dystrophy"	""	""
"0000301987"	"04214"	"00409873"	"00000"	"Familial, autosomal recessive"	"36y"	"visual field of less than 5 degrees"	""	">2y"	"night blindness and poor vision as a child"	""	""	""	""	""	"early onset retinal dystrophy"	""	""
"0000301988"	"04214"	"00409874"	"00000"	"Familial, autosomal recessive"	"23y"	"visual field restricted to tiny central islands; funduscopy: optic disc pallor, attenuated retinal arterioles, peripheral RPE atrophy and perimacular retinal surface wrinkling but little bone-spicule pigment"	""	"7y"	"night blindness and poor vision as a child"	""	""	""	""	""	"early onset retinal dystrophy"	""	""
"0000301989"	"04214"	"00409875"	"00000"	"Familial, autosomal recessive"	"25y"	"no electroretinogram responses at age 15; currently, no central vision"	""	"3y"	"nystagmus"	""	""	""	""	""	"early onset retinal dystrophy"	""	""
"0000301990"	"04214"	"00409876"	"00000"	"Familial, autosomal recessive"	"71y"	"mild form of typical retinitis pigmentosa; peripheral visual field loss >60y"	""	""	"night blindness since childhood"	""	""	""	""	""	"early onset retinal dystrophy"	""	""
"0000301991"	"04214"	"00409877"	"00000"	"Familial, autosomal recessive"	"2y6m"	"did not follow objects at age 2.5 months, but saw lights; had no nystagmus, deeply night blindness; progressively improved so that he recognized various objects (cars, forks) and could move by himself in a bright environment at age 21 months; hyperopaia with refraction right/left eye: +4.25 (-0.50; 30deg) / +4.50 (-0.75; 165deg); subnormal binocular visual acuity (2.5/10) at the baby vision test; fundus: normal-looking maculae with good reflexes and normal optic disks; no pigment deposits either in the posterior pole or in periphery, retinal vessels were slightly narrowed, no depigmentation spots or flecks; electroretinogram: flat for all types of stimulation"	""	""	""	""	""	""	""	""	"early onset retinal dystrophy"	""	""
"0000301992"	"04214"	"00409878"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"early onset retinal dystrophy"	""	""
"0000301993"	"04214"	"00409879"	"00000"	"Familial, autosomal recessive"	"28y"	"baseline visual acuity (ETDRS Letter Score) right/left eye: 70.5/59.5; visual acuity response (ETDRS Letter Score, defined as improvement in logMAR (>=5 letter score, or from 0 to seeing any letters) on at least 2 consecutive visits starting) right/left eye: 8.9/10.5; baseline Goldmann visual field, retinal area (mm2) right/left eye: 42/17;  Goldmann visual field, response percent (defined as improvements in GVF retinal area  20% on at least 2 consecutive visits starting by Month 2) right/left eye:0.68/3.31"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000301994"	"04214"	"00409880"	"00000"	"Familial, autosomal recessive"	"41y"	"baseline visual acuity (ETDRS Letter Score) right/left eye: 0/1.5; visual acuity response (ETDRS Letter Score, defined as improvement in logMAR (>=5 letter score, or from 0 to seeing any letters) on at least 2 consecutive visits starting) right/left eye: no/16; baseline Goldmann visual field, retinal area (mm2) right/left eye: 288/288;  Goldmann visual field, response percent (defined as improvements in GVF retinal area  20% on at least 2 consecutive visits starting by Month 2) right/left eye:no/no"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000301995"	"04214"	"00409881"	"00000"	"Familial, autosomal recessive"	"6y"	"baseline visual acuity (ETDRS Letter Score) right/left eye: 37/39.5; visual acuity response (ETDRS Letter Score, defined as improvement in logMAR (>=5 letter score, or from 0 to seeing any letters) on at least 2 consecutive visits starting) right/left eye: 14.2/11.8; baseline Goldmann visual field, retinal area (mm2) right/left eye: 263/251;  Goldmann visual field, response percent (defined as improvements in GVF retinal area  20% on at least 2 consecutive visits starting by Month 2) right/left eye:0.52/0.42"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000301998"	"04214"	"00409884"	"00000"	"Familial, autosomal recessive"	"20y"	"baseline visual acuity (ETDRS Letter Score) right/left eye: 60.5/40; visual acuity response (ETDRS Letter Score, defined as improvement in logMAR (>=5 letter score, or from 0 to seeing any letters) on at least 2 consecutive visits starting) right/left eye: no/9.5; baseline Goldmann visual field, retinal area (mm2) right/left eye: 34/25;  Goldmann visual field, response percent (defined as improvements in GVF retinal area  20% on at least 2 consecutive visits starting by Month 2) right/left eye:no/no"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302000"	"04214"	"00409886"	"00000"	"Familial, autosomal recessive"	"55y"	"baseline visual acuity (ETDRS Letter Score) right/left eye: 53/27.5; visual acuity response (ETDRS Letter Score, defined as improvement in logMAR (>=5 letter score, or from 0 to seeing any letters) on at least 2 consecutive visits starting) right/left eye: no/no; baseline Goldmann visual field, retinal area (mm2) right/left eye: 145/120;  Goldmann visual field, response percent (defined as improvements in GVF retinal area  20% on at least 2 consecutive visits starting by Month 2) right/left eye: no/no"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302011"	"04214"	"00409897"	"00000"	"Familial, autosomal recessive"	""	""	""	""	"retinal degeneration early in life"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302012"	"04214"	"00409898"	"00000"	"Familial, autosomal recessive"	"35y"	"waxy pale optic discs, attenuation of retinal arteries, bone spicule-like pigment deposits in the midperiphery of the retina, and macular changes"	""	""	"retinal degeneration early in life"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302013"	"04214"	"00409899"	"00000"	"Familial, autosomal recessive"	"10y"	"attenuation of retinal arteries; extinguished electroretinogram"	""	""	"retinal degeneration early in life"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302014"	"04214"	"00409900"	"00000"	"Familial, autosomal recessive"	""	""	""	""	"retinal degeneration early in life"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302015"	"04214"	"00409901"	"00000"	"Familial, autosomal recessive"	""	""	""	""	"retinal degeneration early in life"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302016"	"04214"	"00409902"	"00000"	"Familial, autosomal recessive"	""	""	""	""	"retinal degeneration early in life"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000302043"	"04214"	"00409929"	"00000"	"Familial, autosomal recessive"	"75y"	"nyctalopia in 1st decade of life; visual field loss: 3rd decade of life; visual acuity loss: 2nd decade of life; best corrected visual acuity: counting fingers; macula: profound chorioretinal and retinal pigment epithelium atrophy, sharply demarcated. pigment clumping.; age at visual field testing: 23y - central horizontal diameter V-4e (deg): 1.5/2; central horizontal diameter I-4e (deg): 0/0; minimal isopter size observed on Goldmann kinetic perimetry: III-4e; seeing retinal area V4e (mm2): not available/679.1; pattern: absolute central scotoma. peripheral wedge of vision.  50y - central horizontal diameter V-4e (deg): 0/0; central horizontal diameter I-4e (deg): 0/0; minimal isopter size observed on Goldmann kinetic perimetry: I-4e; seeing retinal area V4e (mm2): 213.6/234.6; pattern: large absolute central scotoma with small island of foveal sparing. midperipheral remaining ring.; change (mm2/year):-16.8"	""	""	""	""	""	""	""	""	"retinal dystrophy"	""	""
"0000302044"	"04214"	"00409930"	"00000"	"Familial, autosomal recessive"	"49y"	"nyctalopia in infancy; visual field loss: 1st decade of life; visual acuity loss: 1st decade of life; best corrected visual acuity: counting fingers; macula: sheen, retinal pigment epithelium alterations; age at visual field testing: 29y - central horizontal diameter V-4e (deg): 73/63; central horizontal diameter I-4e (deg): 0/0; minimal isopter size observed on Goldmann kinetic perimetry: I-3e; seeing retinal area V4e (mm2): 768.3/725.7; pattern: relative central scotoma (���i4e). absolute paracentral s"	""	""	""	""	""	""	""	""	"retinal dystrophy"	""	""
"0000302045"	"04214"	"00409931"	"00000"	"Familial, autosomal recessive"	"52y"	"nyctalopia in infancy; visual field loss: 3rd decade of life; visual acuity loss: 3rd decade of life; best corrected visual acuity: 20/200; macula: retinal and retinal pigment epithelium atrophy; age at visual field testing: 30y - central horizontal diameter V-4e (deg): not available/; central horizontal diameter I-4e (deg): not available/; minimal isopter size observed on Goldmann kinetic perimetry: not available; seeing retinal area V4e (mm2): not available/; pattern: supra-temporal absolute scotoma; relative central scotoma"	""	""	""	""	""	""	""	""	"retinal dystrophy"	""	""
"0000302046"	"04214"	"00409932"	"00000"	"Familial, autosomal recessive"	"49y"	"nyctalopia in infancy; visual field loss: 3rd decade of life; visual acuity loss: 2nd decade of life; best corrected visual acuity: counting fingers; macula: retinal pigment epithelium alterations, choroidal atrophy"	""	""	""	""	""	""	""	""	"retinal dystrophy"	""	""
"0000302047"	"04214"	"00409933"	"00000"	"Familial, autosomal recessive"	"49y"	"nyctalopia in infancy; visual field loss: 2nd decade of life; visual acuity loss: 2nd/3rd decade of life; best corrected visual acuity: counting fingers; macula: sheen, retinal pigment epithelium atrophic alterations"	""	""	""	""	""	""	""	""	"retinal dystrophy"	""	""
"0000302048"	"04214"	"00409934"	"00000"	"Familial, autosomal recessive"	"42y"	"nyctalopia in infancy; visual field loss: 3rd decade of life; visual acuity loss: 2nd decade of life; best corrected visual acuity: 20/200; macula: chorioretinal and retinal pigment epithelium atrophy spanning posterior pole and beyond vascular arcade"	""	""	""	""	""	""	""	""	"retinal dystrophy"	""	""
"0000302049"	"04214"	"00409935"	"00000"	"Familial, autosomal recessive"	"64y"	"nyctalopia in infancy; visual field loss: 3rd decade of life; visual acuity loss: before 4th decade of life; best corrected visual acuity: 20/100; macula: difficult to assess due to synchysis scintillans. small pigmentations; age at visual field testing: 37y - central horizontal diameter V-4e (deg): 145/142; central horizontal diameter I-4e (deg): 48-10/53; minimal isopter size observed on Goldmann kinetic perimetry: I-2e; seeing retinal area V4e (mm2): 782.8/765.7; change (mm2/year):-15.4; pattern: midperipheral absolute scotomas, encroaching towards fovea. relative concentric constriction.52y - central horizontal diameter V-4e (deg): 72/66; central horizontal diameter I-4e (deg): 39-10/55; minimal isopter size observed on Goldmann kinetic perimetry: I-2e; seeing retinal area V4e (mm2): 543.9/543.5; pattern: relative paracentral scotomas. relative concentric constriction, mainly superior hemifield."	""	""	""	""	""	""	""	""	"retinal dystrophy"	""	""
"0000302050"	"04214"	"00409936"	"00000"	"Familial, autosomal recessive"	"55y"	"nyctalopia in 1st decade of life; visual field loss: before 5th decade of life; visual acuity loss: 1st decade of life; best corrected visual acuity: 20/25; macula: sheen, retinal pigment epithelium atrophy around spared fovea; age at visual field testing: 48y - central horizontal diameter V-4e (deg): 153/98; central horizontal diameter I-4e (deg): 44650/11; minimal isopter size observed on Goldmann kinetic perimetry: I-3e; seeing retinal area V4e (mm2): 707.1/691.9; pattern: absolute midperipheral and paracentral scotomas."	""	""	""	""	""	""	""	""	"retinal dystrophy"	""	""
"0000302051"	"04214"	"00409937"	"00000"	"Familial, autosomal recessive"	"20y"	"nyctalopia in 1st decade of life; visual field loss: 1st decade of life; visual acuity loss: ; best corrected visual acuity: 20/20; macula: sheen, normal pigmentation, white dots; age at visual field testing: 11y - central horizontal diameter V-4e (deg): not available (only a description of the visual field in the medical record)/; central horizontal diameter I-4e (deg): not available (only a description of the visual field in the medical record)/; minimal isopter size observed on Goldmann kinetic perimetry: not available (only a description of the visual field in the medical record); seeing retinal area V4e (mm2): not available (only a description of the visual field in the medical record)/; pattern: multiple relative scotomas in periphery."	""	""	""	""	""	""	""	""	"retinal dystrophy"	""	""
"0000302052"	"04214"	"00409938"	"00000"	"Familial, autosomal recessive"	"44y"	"nyctalopia in 1st decade of life; visual field loss: 2nd decade of life; visual acuity loss: 2nd decade of life; best corrected visual acuity: 20/20; macula: no sheen, subtle white dots on a pale retina, subtle granular retinal pigment epithelium changes.; age at visual field testing: 40y - central horizontal diameter V-4e (deg): not available (only a description of the visual field in the medical record)/; central horizontal diameter I-4e (deg): not available (only a description of the visual field in the medical record)/; minimal isopter size observed on Goldmann kinetic perimetry: not available (only a description of the visual field in the medical record); seeing retinal area V4e (mm2): not available (only a description of the visual field in the medical record)/; pattern: absolute concentric constriction, 20deg from fovea"	""	""	""	""	""	""	""	""	"retinal dystrophy"	""	""
"0000302053"	"04214"	"00409939"	"00000"	"Familial, autosomal recessive"	"68y"	"nyctalopia in infancy; visual field loss: 5th decade of life; visual acuity loss: 1st decade of life; best corrected visual acuity: 20/40; macula: atrophic retinal pigment epithelium alterations; age at visual field testing: 38y - central horizontal diameter V-4e (deg): 140/150; central horizontal diameter I-4e (deg): 75/77; minimal isopter size observed on Goldmann kinetic perimetry: I-3e; seeing retinal area V4e (mm2): 718.9/736.2; pattern: absolute concentric constriction. 39y - central horizontal diameter V-4e (deg): 130/140; central horizontal diameter I-4e (deg): 73/70; minimal isopter size observed on Goldmann kinetic perimetry: I-3e; seeing retinal area V4e (mm2): 700.6/716.2; pattern: absolute concentric constriction. ; change (mm2/year):-13.4"	""	""	""	""	""	""	""	""	"retinal dystrophy"	""	""
"0000302054"	"04214"	"00409940"	"00000"	"Familial, autosomal recessive"	"58y"	"nyctalopia in infancy; visual field loss: not available; visual acuity loss: not available; best corrected visual acuity: 20/16; macula: retinal pigment epithelium alterations; age at visual field testing: 54y - central horizontal diameter V-4e (deg)NAd/; central horizontal diameter I-4e (deg): NAd/; minimal isopter size observed on Goldmann kinetic perimetry: NAd; seeing retinal area V4e (mm2): NAd/"	""	""	""	""	""	""	""	""	"retinal dystrophy"	""	""
"0000302055"	"04214"	"00409941"	"00000"	"Familial, autosomal recessive"	"17y"	"nyctalopia in infancy; visual field loss: 2nd decade of life; visual acuity loss: 1st decade of life; best corrected visual acuity: 20/66; macula: central macula with normal appearance, white dots in the superior posterior pole. ; age at visual field testing: 15y - central horizontal diameter V-4e (deg): 116/130; central horizontal diameter I-4e (deg): 4/2; minimal isopter size observed on Goldmann kinetic perimetry: I4e; seeing retinal area V4e (mm2): 452.2/512; pattern: absolute concentric constriction.16y - central horizontal diameter V-4e (deg): 116/128; central horizontal diameter I-4e (deg): 0/2; minimal isopter size observed on Goldmann kinetic perimetry: II4e/ I4e; seeing retinal area V4e (mm2): 455.6/507.2; pattern: increased concentric constriction.17y - central horizontal diameter V-4e (deg): 134/123; central horizontal diameter I-4e (deg): 0/3; minimal isopter size observed on Goldmann kinetic perimetry: II4e/ I4e; seeing retinal area V4e (mm2): 562.5/530; pattern: absolute concentric constriction.; change (mm2/year):41.9"	""	""	""	""	""	""	""	""	"retinal dystrophy"	""	""
"0000336754"	"00198"	"00447555"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""


## Screenings ## Do not remove or alter this header ##
## Count = 84
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000100471"	"00100068"	"1"	"01769"	"01769"	"2017-01-30 15:20:57"	""	""	"SEQ"	"DNA"	"WBC"	""
"0000100484"	"00100080"	"1"	"01769"	"01769"	"2017-01-30 16:17:23"	""	""	"SEQ"	"DNA"	"WBC"	""
"0000171733"	"00170851"	"1"	"00244"	"00244"	"2018-07-26 11:31:20"	""	""	"SEQ-NG-I"	"DNA"	""	"Gene Panel (79 IRD genes)"
"0000233705"	"00232606"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233706"	"00232607"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000309758"	"00308613"	"1"	"00004"	"00006"	"2020-08-27 13:01:07"	""	""	"SEQ"	"DNA"	""	""
"0000309759"	"00308614"	"1"	"00004"	"00006"	"2020-08-27 13:01:07"	""	""	"SEQ"	"DNA"	""	""
"0000326634"	"00325423"	"1"	"00006"	"00006"	"2021-01-03 11:36:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"199 gene panel"
"0000326698"	"00325487"	"1"	"00006"	"00006"	"2021-01-03 11:36:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"199 gene panel"
"0000333491"	"00332271"	"1"	"00000"	"00006"	"2021-02-16 17:14:33"	""	""	"SEQ-NG"	"DNA"	""	"300-gene panel"
"0000360318"	"00359080"	"1"	"00000"	"00006"	"2021-03-18 16:44:20"	""	""	"SEQ"	"DNA"	""	"105-gene panel"
"0000364927"	"00363699"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000375069"	"00373837"	"1"	"00000"	"00006"	"2021-05-21 13:56:05"	""	""	"SEQ-NG"	"DNA"	""	"86-gene panel"
"0000376529"	"00375332"	"1"	"00000"	"00006"	"2021-06-03 08:39:58"	""	""	"SEQ-NG"	"DNA"	""	"193-gene panel"
"0000377971"	"00376765"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377978"	"00376772"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000377990"	"00376784"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000378060"	"00376855"	"1"	"00000"	"00006"	"2021-06-25 17:40:07"	""	""	"SEQ"	"DNA"	""	"WES"
"0000378743"	"00377540"	"1"	"00000"	"03840"	"2021-07-22 15:35:32"	"00006"	"2021-08-06 16:49:30"	"SEQ-NG;SEQ"	"DNA"	"blood"	"Targeted next-generation sequencing"
"0000378744"	"00377541"	"1"	"00000"	"03840"	"2021-07-22 15:35:32"	"00006"	"2021-08-06 16:49:30"	"SEQ-NG;SEQ"	"DNA"	"blood"	"Targeted next-generation sequencing"
"0000380579"	"00379379"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"PCR;SEQ; arraySNP"	"DNA"	"blood"	""
"0000380719"	"00379519"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"PCR"	"DNA"	"blood"	""
"0000380720"	"00379520"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"PCR"	"DNA"	"blood"	""
"0000380721"	"00379521"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"PCR"	"DNA"	"blood"	""
"0000380722"	"00379522"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"PCR"	"DNA"	"blood"	""
"0000381331"	"00380129"	"1"	"00000"	"03840"	"2021-08-10 09:47:12"	""	""	"SEQ-NG"	"DNA"	""	"322 eye disease gene panel"
"0000381335"	"00380133"	"1"	"00000"	"03840"	"2021-08-10 09:47:12"	""	""	"SEQ-NG"	"DNA"	""	"322 eye disease gene panel (negative), WES"
"0000382406"	"00381191"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382427"	"00381212"	"1"	"00009"	"00008"	"2021-08-27 03:00:16"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000382859"	"00381643"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382860"	"00381644"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000383774"	"00382560"	"1"	"00000"	"03840"	"2021-09-09 12:39:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000383850"	"00382636"	"1"	"00000"	"03840"	"2021-09-09 12:59:34"	""	""	"SEQ-NG"	"DNA"	"blood"	"solved"
"0000384015"	"00382799"	"1"	"00000"	"00008"	"2021-09-13 01:01:20"	""	""	"arraySEQ;PCR"	"DNA"	"blood"	""
"0000384291"	"00383067"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000385148"	"00383923"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385417"	"00384192"	"1"	"00000"	"03840"	"2021-09-29 13:14:43"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"108-gene panel targeted resequencing using MIPs library prep"
"0000385418"	"00384193"	"1"	"00000"	"03840"	"2021-09-29 13:14:43"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"108-gene panel targeted resequencing using MIPs library prep"
"0000390752"	"00389509"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000391091"	"00389848"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET2 targeted sequencing panel - see paper"
"0000392900"	"00391659"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392901"	"00391660"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392902"	"00391661"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392903"	"00391662"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392904"	"00391663"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392905"	"00391664"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000392970"	"00391729"	"1"	"00000"	"03840"	"2021-11-18 13:42:28"	""	""	"?"	"DNA"	"blood"	"224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient; SNP array 10 patients; Sanger Sequencing from one gene analysis 2 patien"
"0000397450"	"00396209"	"1"	"00000"	"00008"	"2021-12-15 12:47:34"	""	""	"SEQ-NG"	"DNA"	""	""
"0000407838"	"00406595"	"1"	"00000"	"03840"	"2022-04-01 15:23:22"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000411132"	"00409869"	"1"	"00000"	"03840"	"2022-05-13 10:41:21"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	"APEX analysis"
"0000411133"	"00409870"	"1"	"00000"	"03840"	"2022-05-13 10:41:21"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000411134"	"00409871"	"1"	"00000"	"03840"	"2022-05-13 10:41:21"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000411135"	"00409872"	"1"	"00000"	"03840"	"2022-05-13 10:41:21"	""	""	"arraySNP;SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000411136"	"00409873"	"1"	"00000"	"03840"	"2022-05-13 11:25:44"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000411137"	"00409874"	"1"	"00000"	"03840"	"2022-05-13 11:25:44"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000411138"	"00409875"	"1"	"00000"	"03840"	"2022-05-13 11:25:44"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000411139"	"00409876"	"1"	"00000"	"03840"	"2022-05-13 12:21:32"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000411140"	"00409877"	"1"	"00000"	"03840"	"2022-05-13 12:21:32"	""	""	"DHPLC;SEQ"	"DNA"	"blood"	""
"0000411141"	"00409878"	"1"	"00000"	"03840"	"2022-05-13 12:33:40"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000411142"	"00409879"	"1"	"00000"	"03840"	"2022-05-13 13:40:26"	""	""	"?"	"DNA"	""	"patients already genotyped for clinical trials"
"0000411143"	"00409880"	"1"	"00000"	"03840"	"2022-05-13 13:40:26"	""	""	"?"	"DNA"	""	"patients already genotyped for clinical trials"
"0000411144"	"00409881"	"1"	"00000"	"03840"	"2022-05-13 13:40:26"	""	""	"?"	"DNA"	""	"patients already genotyped for clinical trials"
"0000411147"	"00409884"	"1"	"00000"	"03840"	"2022-05-13 13:40:26"	""	""	"?"	"DNA"	""	"patients already genotyped for clinical trials"
"0000411149"	"00409886"	"1"	"00000"	"03840"	"2022-05-13 13:40:26"	""	""	"?"	"DNA"	""	"patients already genotyped for clinical trials"
"0000411160"	"00409897"	"1"	"00000"	"03840"	"2022-05-13 14:11:51"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000411161"	"00409898"	"1"	"00000"	"03840"	"2022-05-13 14:11:51"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000411162"	"00409899"	"1"	"00000"	"03840"	"2022-05-13 14:11:51"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000411163"	"00409900"	"1"	"00000"	"03840"	"2022-05-13 14:11:51"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000411164"	"00409901"	"1"	"00000"	"03840"	"2022-05-13 14:11:51"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000411165"	"00409902"	"1"	"00000"	"03840"	"2022-05-13 14:11:51"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000411192"	"00409929"	"1"	"00000"	"03840"	"2022-05-14 11:49:20"	""	""	"SEQ"	"DNA"	""	""
"0000411193"	"00409930"	"1"	"00000"	"03840"	"2022-05-14 11:49:20"	""	""	"SEQ"	"DNA"	""	""
"0000411194"	"00409931"	"1"	"00000"	"03840"	"2022-05-14 11:49:20"	""	""	"SEQ"	"DNA"	""	""
"0000411195"	"00409932"	"1"	"00000"	"03840"	"2022-05-14 11:49:20"	""	""	"SEQ"	"DNA"	""	""
"0000411196"	"00409933"	"1"	"00000"	"03840"	"2022-05-14 11:49:20"	""	""	"SEQ"	"DNA"	""	""
"0000411197"	"00409934"	"1"	"00000"	"03840"	"2022-05-14 11:49:20"	""	""	"SEQ"	"DNA"	""	""
"0000411198"	"00409935"	"1"	"00000"	"03840"	"2022-05-14 11:49:20"	""	""	"SEQ"	"DNA"	""	""
"0000411199"	"00409936"	"1"	"00000"	"03840"	"2022-05-14 11:49:20"	""	""	"SEQ"	"DNA"	""	""
"0000411200"	"00409937"	"1"	"00000"	"03840"	"2022-05-14 11:49:20"	""	""	"SEQ"	"DNA"	""	""
"0000411201"	"00409938"	"1"	"00000"	"03840"	"2022-05-14 11:49:20"	""	""	"SEQ"	"DNA"	""	""
"0000411202"	"00409939"	"1"	"00000"	"03840"	"2022-05-14 11:49:20"	""	""	"SEQ"	"DNA"	""	""
"0000411203"	"00409940"	"1"	"00000"	"03840"	"2022-05-14 11:49:20"	""	""	"SEQ"	"DNA"	""	""
"0000411204"	"00409941"	"1"	"00000"	"03840"	"2022-05-14 11:49:20"	""	""	"arraySNP;SEQ"	"DNA"	""	""
"0000449132"	"00447555"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 74
"{{screeningid}}"	"{{geneid}}"
"0000100471"	"LRAT"
"0000100484"	"LRAT"
"0000171733"	"LRAT"
"0000233705"	"LRAT"
"0000233706"	"LRAT"
"0000309758"	"LRAT"
"0000309759"	"LRAT"
"0000326634"	"LRAT"
"0000326698"	"LRAT"
"0000333491"	"LRAT"
"0000364927"	"LRAT"
"0000375069"	"LRAT"
"0000376529"	"LRAT"
"0000380579"	"LRAT"
"0000380719"	"LRAT"
"0000380720"	"LRAT"
"0000380721"	"LRAT"
"0000380722"	"LRAT"
"0000382406"	"LRAT"
"0000382427"	"LRAT"
"0000382859"	"LRAT"
"0000382860"	"LRAT"
"0000383774"	"LRAT"
"0000383850"	"LRAT"
"0000384015"	"GUCY2D"
"0000384291"	"PDE6A"
"0000385148"	"LRAT"
"0000385417"	"LRAT"
"0000385418"	"LRAT"
"0000390752"	"LRAT"
"0000391091"	"LRAT"
"0000392900"	"LRAT"
"0000392901"	"LRAT"
"0000392902"	"LRAT"
"0000392903"	"LRAT"
"0000392904"	"LRAT"
"0000392905"	"LRAT"
"0000392970"	"LRAT"
"0000397450"	"CEP290"
"0000407838"	"LRAT"
"0000411132"	"LRAT"
"0000411133"	"LRAT"
"0000411134"	"LRAT"
"0000411135"	"LRAT"
"0000411136"	"LRAT"
"0000411137"	"LRAT"
"0000411138"	"LRAT"
"0000411139"	"LRAT"
"0000411140"	"LRAT"
"0000411141"	"LRAT"
"0000411142"	"LRAT"
"0000411143"	"LRAT"
"0000411144"	"LRAT"
"0000411147"	"LRAT"
"0000411149"	"LRAT"
"0000411160"	"LRAT"
"0000411161"	"LRAT"
"0000411162"	"LRAT"
"0000411163"	"LRAT"
"0000411164"	"LRAT"
"0000411165"	"LRAT"
"0000411192"	"LRAT"
"0000411193"	"LRAT"
"0000411194"	"LRAT"
"0000411195"	"LRAT"
"0000411196"	"LRAT"
"0000411197"	"LRAT"
"0000411198"	"LRAT"
"0000411199"	"LRAT"
"0000411200"	"LRAT"
"0000411201"	"LRAT"
"0000411202"	"LRAT"
"0000411203"	"LRAT"
"0000411204"	"LRAT"


## 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 = 103
"{{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}}"
"0000162770"	"3"	"90"	"4"	"155665896"	"155665896"	"subst"	"0"	"01769"	"LRAT_000002"	"g.155665896G>T"	""	"{PMID:Li 2017:28418496}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.154744744G>T"	""	"pathogenic"	""
"0000162783"	"3"	"90"	"4"	"155666016"	"155666016"	"subst"	"0"	"01769"	"LRAT_000001"	"g.155666016A>T"	""	"{PMID:Li 2017:28418496}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.154744864A>T"	""	"pathogenic"	""
"0000279461"	"0"	"30"	"4"	"155670291"	"155670291"	"subst"	"0.00194172"	"02330"	"LRAT_000005"	"g.155670291T>G"	""	""	""	"LRAT(NM_004744.5):c.*3T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.154749139T>G"	""	"likely benign"	""
"0000279462"	"0"	"10"	"4"	"155665652"	"155665652"	"subst"	"1.21877E-5"	"02330"	"LRAT_000003"	"g.155665652G>C"	""	""	""	"LRAT(NM_004744.5):c.174G>C (p.L58=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.154744500G>C"	""	"benign"	""
"0000279463"	"0"	"10"	"4"	"155670222"	"155670222"	"subst"	"0.00118199"	"02330"	"LRAT_000004"	"g.155670222G>A"	""	""	""	"LRAT(NM_004744.5):c.627G>A (p.T209=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.154749070G>A"	""	"benign"	""
"0000345619"	"0"	"50"	"4"	"155665777"	"155665777"	"subst"	"0"	"02327"	"LRAT_000006"	"g.155665777G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.154744625G>A"	""	"VUS"	""
"0000346610"	"0"	"90"	"4"	"155665997"	"155665997"	"del"	"0"	"02327"	"LRAT_000007"	"g.155665997del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.154744845del"	""	"pathogenic"	""
"0000392087"	"3"	"70"	"4"	"155665641"	"155665641"	"subst"	"0"	"00244"	"LRAT_000008"	"g.155665641C>G"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.154744489C>G"	""	"likely pathogenic"	""
"0000476413"	"0"	"50"	"4"	"155665589"	"155665589"	"subst"	"4.06194E-6"	"02591"	"LRAT_000009"	"g.155665589C>G"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.154744437C>G"	""	"VUS"	""
"0000476414"	"0"	"50"	"4"	"155665896"	"155665896"	"subst"	"0"	"02591"	"LRAT_000010"	"g.155665896G>A"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.154744744G>A"	""	"VUS"	""
"0000521892"	"0"	"90"	"4"	"155665490"	"155665490"	"del"	"0"	"02330"	"LRAT_000011"	"g.155665490del"	""	""	""	"LRAT(NM_004744.5):c.12delC (p.M5Cfs*54)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.154744338del"	""	"pathogenic"	""
"0000521893"	"0"	"10"	"4"	"155665552"	"155665552"	"subst"	"0.00162045"	"02330"	"LRAT_000012"	"g.155665552T>A"	""	""	""	"LRAT(NM_004744.5):c.74T>A (p.F25Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.154744400T>A"	""	"benign"	""
"0000521894"	"0"	"50"	"4"	"155665626"	"155665626"	"subst"	"0"	"01943"	"LRAT_000013"	"g.155665626G>C"	""	""	""	"LRAT(NM_004744.4):c.148G>C (p.V50L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.154744474G>C"	""	"VUS"	""
"0000621369"	"0"	"30"	"4"	"155665778"	"155665778"	"subst"	"2.84359E-5"	"01943"	"LRAT_000014"	"g.155665778C>T"	""	""	""	"LRAT(NM_004744.4):c.300C>T (p.G100=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.154744626C>T"	""	"likely benign"	""
"0000684631"	"3"	"70"	"4"	"155665790"	"155665790"	"del"	"0"	"00004"	"LRAT_000015"	"g.155665790del"	"1/899 cases"	"{PMID:Holtan 2020:31429209}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.154744638del"	""	"likely pathogenic (recessive)"	""
"0000684632"	"3"	"70"	"4"	"155670239"	"155670240"	"del"	"0"	"00004"	"LRAT_000016"	"g.155670239_155670240del"	"1/899 cases"	"{PMID:Holtan 2020:31429209}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.154749087_154749088del"	""	"likely pathogenic (recessive)"	""
"0000710226"	"3"	"90"	"4"	"155670209"	"155670210"	"del"	"0"	"00006"	"LRAT_000017"	"g.155670209_155670210del"	"1/143 cases"	"{PMID:Zenteno 2020:31736247}"	""	"614_615delCT"	"ACMG PVS1, PM2, PP1PP4"	"Germline"	""	""	"0"	""	""	"g.154749057_154749058del"	""	"pathogenic"	"ACMG"
"0000710290"	"1"	"50"	"4"	"155670253"	"155670253"	"subst"	"0"	"00006"	"LRAT_000018"	"g.155670253A>C"	"1/143 cases"	"{PMID:Zenteno 2020:31736247}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.154749101A>C"	""	"VUS"	""
"0000719798"	"0"	"50"	"4"	"155665792"	"155665792"	"subst"	"4.06187E-6"	"01943"	"LRAT_000019"	"g.155665792T>G"	""	""	""	"LRAT(NM_004744.4):c.314T>G (p.V105G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000731145"	"3"	"90"	"4"	"155665824"	"155665824"	"subst"	"0"	"00000"	"LRAT_000020"	"g.155665824T>C"	""	"{PMID:Porto 2017:29186038}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000760210"	"3"	"50"	"4"	"155665951"	"155665951"	"subst"	"0"	"00000"	"LRAT_000021"	"g.155665951G>A"	""	"{PMID:Ellingford 2016:27208204}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.154744799G>A"	""	"VUS"	""
"0000765869"	"0"	"70"	"4"	"155665711"	"155665720"	"del"	"0"	"00000"	"LRAT_000022"	"g.155665711_155665720del"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.154744559_154744568del"	""	"likely pathogenic"	""
"0000786336"	"1"	"90"	"4"	"155670164"	"155670164"	"subst"	"4.46886E-5"	"00000"	"LRAT_000024"	"g.155670164G>A"	""	"{PMID:Zhao 2015:25472526}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.154749012G>A"	""	"pathogenic"	""
"0000786385"	"2"	"90"	"4"	"155665776"	"155665776"	"subst"	"0"	"00000"	"LRAT_000023"	"g.155665776G>T"	""	"{PMID:Zhao 2015:25472526}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.154744624G>T"	""	"pathogenic"	""
"0000788137"	"3"	"70"	"4"	"155665641"	"155665641"	"subst"	"0"	"00000"	"LRAT_000025"	"g.155665641C>T"	""	"{PMID:Oishi 2014:25324289}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.154744489C>T"	""	"likely pathogenic"	""
"0000790533"	"0"	"50"	"4"	"155665552"	"155665552"	"subst"	"0.00162045"	"00000"	"LRAT_000012"	"g.155665552T>A"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	"rs75368761"	"0"	""	""	"g.154744400T>A"	""	"VUS"	""
"0000790569"	"0"	"50"	"4"	"155665749"	"155665749"	"subst"	"1.21864E-5"	"00000"	"LRAT_000026"	"g.155665749G>A"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.154744597G>A"	""	"VUS"	""
"0000790608"	"0"	"50"	"4"	"155665552"	"155665552"	"subst"	"0.00162045"	"00000"	"LRAT_000012"	"g.155665552T>A"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	"rs75368761"	"0"	""	""	"g.154744400T>A"	""	"VUS"	""
"0000790729"	"3"	"70"	"4"	"155665804"	"155665804"	"subst"	"0"	"00000"	"LRAT_000027"	"g.155665804G>T"	""	"{PMID:Coppieters 2014:24625443}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.154744652G>T"	""	"likely pathogenic"	""
"0000791596"	"11"	"90"	"4"	"155665641"	"155665641"	"subst"	"0"	"00000"	"LRAT_000025"	"g.155665641C>T"	""	"{PMID:Hosono 2018:29844330}"	""	"c.163C>T"	"heterozygous, causative variant"	"Germline"	"yes"	""	"0"	""	""	"g.154744489C>T"	""	"pathogenic"	"ACMG"
"0000791597"	"11"	"90"	"4"	"155665641"	"155665641"	"subst"	"0"	"00000"	"LRAT_000025"	"g.155665641C>T"	""	"{PMID:Hosono 2018:29844330}"	""	"c.163C>T"	"heterozygous, causative variant"	"Germline"	"yes"	""	"0"	""	""	"g.154744489C>T"	""	"pathogenic"	"ACMG"
"0000791631"	"21"	"90"	"4"	"155665253"	"155674270"	"del"	"0"	"00000"	"LRAT_000028"	"g.(?_155665253)_(155674270_?)del"	""	"{PMID:Hosono 2018:29844330}"	""	"Exon1-3deletion"	"heterozygous, causative variant"	"Germline"	"yes"	""	"0"	""	""	"g.(?_154744101)_(154753118_?)del"	""	"pathogenic"	"ACMG"
"0000791632"	"21"	"90"	"4"	"155665253"	"155674270"	"del"	"0"	"00000"	"LRAT_000028"	"g.(?_155665253)_(155674270_?)del"	""	"{PMID:Hosono 2018:29844330}"	""	"Exon1-3deletion"	"heterozygous, causative variant"	"Germline"	"yes"	""	"0"	""	""	"g.(?_154744101)_(154753118_?)del"	""	"pathogenic"	"ACMG"
"0000793724"	"3"	"50"	"4"	"155665997"	"155665997"	"del"	"0"	"00000"	"LRAT_000007"	"g.155665997del"	""	"{PMID:Collin-2011:21217109}"	""	"c.519del"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000793889"	"3"	"70"	"4"	"155665490"	"155665490"	"del"	"0"	"00000"	"LRAT_000011"	"g.155665490del"	""	"{PMID:Littink-2012:22559933}"	""	"c.12delC, p.M5CfsX53"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000793890"	"3"	"70"	"4"	"155665490"	"155665490"	"del"	"0"	"00000"	"LRAT_000011"	"g.155665490del"	""	"{PMID:Littink-2012:22559933}"	""	"c.12delC, p.M5CfsX53"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000793891"	"3"	"70"	"4"	"155665490"	"155665490"	"del"	"0"	"00000"	"LRAT_000011"	"g.155665490del"	""	"{PMID:Littink-2012:22559933}"	""	"c.12delC, p.M5CfsX53"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000793892"	"3"	"70"	"4"	"155665490"	"155665490"	"del"	"0"	"00000"	"LRAT_000011"	"g.155665490del"	""	"{PMID:Littink-2012:22559933}"	""	"c.12delC, p.M5CfsX53"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000794732"	"3"	"90"	"4"	"155665711"	"155665720"	"del"	"0"	"00000"	"LRAT_000022"	"g.155665711_155665720del"	""	"{PMID:Patel 2018:30054919}"	""	"NM_004744.3:c.233_242del; p.(Leu78Argfs*85)"	""	"Germline"	"yes"	""	"0"	""	""	"g.154744559_154744568del"	""	"pathogenic (recessive)"	"ACMG"
"0000794736"	"3"	"90"	"4"	"155665719"	"155665720"	"del"	"0"	"00000"	"LRAT_000029"	"g.155665719_155665720del"	""	"{PMID:Patel 2018:30054919}"	""	"NM_004744.3:c.241_242del; p.(Leu81Aspfs*40)"	""	"Germline"	"yes"	""	"0"	""	""	"g.154744567_154744568del"	""	"pathogenic (recessive)"	"ACMG"
"0000796205"	"3"	"90"	"4"	"155665695"	"155665696"	"del"	"0"	"00000"	"LRAT_000030"	"g.155665695_155665696del"	""	"{PMID:Wang-2013:23847139}"	""	"c.217_218del"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796240"	"3"	"90"	"4"	"155670209"	"155670209"	"subst"	"0"	"00000"	"LRAT_000031"	"g.155670209C>A"	""	"{PMID:Wang-2013:23847139}"	""	"p.S205Yfs×27"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796771"	"3"	"90"	"4"	"155665711"	"155665720"	"del"	"0"	"00000"	"LRAT_000022"	"g.155665711_155665720del"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.233_242del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796772"	"3"	"90"	"4"	"155665927"	"155665927"	"dup"	"0"	"00000"	"LRAT_000032"	"g.155665927dup"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.449dupG"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000798026"	"0"	"70"	"4"	"155665742"	"155665743"	"dup"	"0"	"00000"	"LRAT_000033"	"g.155665742_155665743dup"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"LRAT c.264_265dup, p.(Gln89Argfs*78)"	"single heterozygous variant (recessive)"	"Germline"	"?"	""	"0"	""	""	"g.154744590_154744591dup"	""	"likely pathogenic"	"ACMG"
"0000798134"	"3"	"70"	"4"	"155665641"	"155665641"	"subst"	"0"	"00000"	"LRAT_000008"	"g.155665641C>G"	""	"{PMID:Gonzalez del Pozo 2018:30190494}"	""	"M7: c.163C > G; p.Arg55Gly"	""	"Germline"	"yes"	""	"0"	""	""	"g.154744489C>G"	""	"likely pathogenic"	""
"0000798437"	"0"	"70"	"4"	"0"	"0"	""	"0"	"00000"	"TRAPPC11_000000"	"g.?"	""	"{PMID:Song-2011:22025579}"	""	"c.74T>A"	""	"Unknown"	""	"rs75368761"	"0"	""	""	""	""	"likely pathogenic"	""
"0000801551"	"0"	"90"	"4"	"155670149"	"155670150"	"del"	"0"	"01943"	"LRAT_000034"	"g.155670149_155670150del"	""	""	""	"LRAT(NM_004744.4):c.554_555delTG (p.V185Efs*6)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000810872"	"0"	"30"	"4"	"155670099"	"155670099"	"subst"	"0"	"00000"	"LRAT_000035"	"g.155670099G>A"	""	"{PMID:Anasagasti-2013:24416769}"	""	"g.155670099G>A*"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely benign (recessive)"	""
"0000812033"	"3"	"70"	"4"	"155665641"	"155665641"	"subst"	"0"	"00000"	"LRAT_000008"	"g.155665641C>G"	""	"{PMID:Martin Merida 2019:30902645}"	""	"LRAT Ex.2 c.163C>G p.(Arg55Gly), Ex.2 c.163C>G p.(Arg55Gly)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.154744489C>G"	""	"likely pathogenic"	""
"0000812465"	"3"	"70"	"4"	"155665965"	"155665965"	"subst"	"0"	"00000"	"LRAT_000037"	"g.155665965C>G"	""	"{PMID:Tayebi 2019:30820146}"	""	"c.487C>G, p.(His163Asp)"	"Homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.154744813C>G"	""	"likely pathogenic"	""
"0000812466"	"3"	"70"	"4"	"155665635"	"155665637"	"dup"	"0"	"00000"	"LRAT_000036"	"g.155665635_155665637dup"	""	"{PMID:Tayebi 2019:30820146}"	""	"c.157_159dup, p.(Val53dup)"	"Homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.154744483_154744485dup"	""	"likely pathogenic"	""
"0000820097"	"1"	"70"	"4"	"155665965"	"155665965"	"subst"	"0"	"00000"	"LRAT_000037"	"g.155665965C>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"LRAT, variant 1: c.487C>G/p.H163D, variant 2: c.487C>G/p.H163D"	"possibly solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.154744813C>G"	""	"likely pathogenic"	""
"0000820436"	"1"	"70"	"4"	"155665927"	"155665927"	"dup"	"0"	"00000"	"LRAT_000032"	"g.155665927dup"	""	"{PMID:Weisschuh 2020:32531858}"	""	"LRAT, variant 1: c.449dup/p.F151Lfs*33, variant 2: c.449dup/p.F151Lfs*33"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.154744775dup"	""	"likely pathogenic"	""
"0000823369"	"0"	"50"	"4"	"155665776"	"155665776"	"subst"	"0"	"00000"	"LRAT_000038"	"g.155665776G>A"	""	"{PMID:Sallum 2020:32865313}"	""	"LRAT c.298G>A; p.GIy100Ser"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.154744624G>A"	""	"VUS"	"ACMG"
"0000823370"	"0"	"50"	"4"	"155665824"	"155665824"	"subst"	"0"	"00000"	"LRAT_000020"	"g.155665824T>C"	""	"{PMID:Sallum 2020:32865313}"	""	"LRAT c.346T>C; p.Phe116Leu"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.154744672T>C"	""	"VUS"	"ACMG"
"0000823371"	"0"	"50"	"4"	"155665776"	"155665776"	"subst"	"0"	"00000"	"LRAT_000038"	"g.155665776G>A"	""	"{PMID:Sallum 2020:32865313}"	""	"LRAT c.298G>A; p.GIy100Ser"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.154744624G>A"	""	"VUS"	"ACMG"
"0000823372"	"0"	"50"	"4"	"155665776"	"155665776"	"subst"	"0"	"00000"	"LRAT_000038"	"g.155665776G>A"	""	"{PMID:Sallum 2020:32865313}"	""	"LRAT c.298G>A; p.GIy100Ser"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.154744624G>A"	""	"VUS"	"ACMG"
"0000823373"	"0"	"50"	"4"	"155665641"	"155665641"	"subst"	"0"	"00000"	"LRAT_000008"	"g.155665641C>G"	""	"{PMID:Sallum 2020:32865313}"	""	"LRAT c.163C>G; p.Arg55GIy"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.154744489C>G"	""	"VUS"	"ACMG"
"0000823374"	"0"	"50"	"4"	"155665824"	"155665824"	"subst"	"0"	"00000"	"LRAT_000020"	"g.155665824T>C"	""	"{PMID:Sallum 2020:32865313}"	""	"LRAT c.346T>C; p.Phe116Leu"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.154744672T>C"	""	"VUS"	"ACMG"
"0000823440"	"0"	"50"	"4"	"155665641"	"155665641"	"subst"	"0"	"00000"	"LRAT_000008"	"g.155665641C>G"	""	"{PMID:Sallum 2020:32865313}"	""	"LRAT c.163C>G; p.Arg55GIy"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.154744489C>G"	""	"VUS"	"ACMG"
"0000823502"	"0"	"50"	"4"	"155665776"	"155665776"	"subst"	"0"	"00000"	"LRAT_000038"	"g.155665776G>A"	""	"{PMID:Sallum 2020:32865313}"	""	"LRAT c.298G>A; p.GIy100Ser"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.154744624G>A"	""	"VUS"	"ACMG"
"0000829437"	"0"	"50"	"4"	"155665714"	"155665714"	"subst"	"4.06316E-6"	"00000"	"LRAT_000039"	"g.155665714T>G"	""	"{PMID:SkorczykWerner-2020:33308271}"	""	"c.236T>G (p.(Leu79Trp))"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000844634"	"0"	"70"	"4"	"155665803"	"155665803"	"subst"	"0"	"00000"	"LRAT_000040"	"g.155665803C>T"	""	"{PMID:Preising 2007:17525851}"	""	"LRAT p.R109C (c.371C>T)"	"error in annotation:  p.R109C is caused by c.1984G>A and not c.1986G>A; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.154744651C>T"	""	"likely pathogenic"	""
"0000844647"	"0"	"70"	"4"	"155670164"	"155670164"	"subst"	"4.46886E-5"	"00000"	"LRAT_000024"	"g.155670164G>A"	""	"{PMID:Preising 2007:17525851}"	""	"LRAT  p.R190H (c.605G>A)"	"error in annotation:  p.R190H is caused by c.569G>A and not c.605G>A; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.154749012G>A"	""	"likely pathogenic"	""
"0000868164"	"3"	"70"	"4"	"155666003"	"155666003"	"subst"	"0"	"00000"	"LRAT_000047"	"g.155666003T>A"	""	"{PMID:Borman 2012:22570351}"	""	"LRAT c.525T>A, p.Ser175Arg"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.154744851T>A"	""	"likely pathogenic"	""
"0000868165"	"3"	"70"	"4"	"155665518"	"155665519"	"delins"	"0"	"00000"	"LRAT_000043"	"g.155665518_155665519delinsTT"	""	"{PMID:Borman 2012:22570351}"	""	"LRAT c.40-41delGAinsTT, p.Glu14Leu"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.154744366_154744367delinsTT"	""	"likely pathogenic"	""
"0000868166"	"3"	"70"	"4"	"155665659"	"155665659"	"subst"	"2.03118E-5"	"00000"	"LRAT_000044"	"g.155665659T>A"	""	"{PMID:Borman 2012:22570351}"	""	"LRAT c.181T>A, p.Tyr61Asp"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.154744507T>A"	""	"likely pathogenic"	""
"0000868167"	"3"	"50"	"4"	"155665794"	"155665794"	"subst"	"4.06243E-6"	"00000"	"LRAT_000045"	"g.155665794G>A"	""	"{PMID:Borman 2012:22570351}"	""	"LRAT c.316G>A, p.Ala106Thr"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.154744642G>A"	""	"VUS"	""
"0000868168"	"3"	"70"	"4"	"155666003"	"155666003"	"subst"	"0"	"00000"	"LRAT_000047"	"g.155666003T>A"	""	"{PMID:Thompson 2001:11381255}"	""	"LRAT T->A transversion at nucleotide 525, (S175R)"	"homozygous; S175R mutation leads to loss of LRAT activity, possibly because an essential nucleophilic residue near the active site is lost"	"Germline"	"yes"	""	"0"	""	""	"g.154744851T>A"	""	"likely pathogenic"	""
"0000868169"	"3"	"70"	"4"	"155666003"	"155666003"	"subst"	"0"	"00000"	"LRAT_000047"	"g.155666003T>A"	""	"{PMID:Thompson 2001:11381255}"	""	"LRAT T->A transversion at nucleotide 526, (S175R)"	"homozygous; S175R mutation leads to loss of LRAT activity, possibly because an essential nucleophilic residue near the active site is lost"	"Germline"	"yes"	""	"0"	""	""	"g.154744851T>A"	""	"likely pathogenic"	""
"0000868170"	"0"	"70"	"4"	"110029080"	"110029080"	"subst"	"0"	"00000"	"LRAT_000042"	"g.110029080T>C"	""	"{PMID:Thompson 2001:11381255}"	""	"LRAT 396delAA, shifts the reading frame following codon 133 to encode 11 amino acids (unrelated to the wildtype sequence) followed by a premature stop codon"	"error in annotation, this change should be annotated as c.400_401del; heterozygous; no second allele detected"	"Germline"	"yes"	""	"0"	""	""	"g.109591275T>C"	""	"likely pathogenic"	""
"0000868171"	"0"	"30"	"4"	"155665996"	"155665996"	"subst"	"1.23243E-5"	"00000"	"LRAT_000041"	"g.155665996C>T"	""	"{PMID:Senechal 2006:17011878}"	""	"LRAT c.518C>T, P173L"	"heterozygous; no second allele detected"	"Unknown"	"?"	""	"0"	""	""	"g.154744844C>T"	""	"likely benign"	""
"0000868172"	"3"	"70"	"4"	"155665695"	"155665696"	"del"	"0"	"00000"	"LRAT_000030"	"g.155665695_155665696del"	""	"{PMID:Senechal 2006:17011878}"	""	"LRAT c.217_218delAT, causing a frameshift at codon 73, which leads to a premature stop at alanine 120"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.154744543_154744544del"	""	"likely pathogenic"	""
"0000868173"	"0"	"90"	"4"	"155666003"	"155666003"	"subst"	"0"	"00000"	"LRAT_000047"	"g.155666003T>A"	""	"{PMID:Bussieres 2007:21821024}"	""	"LRAT S175R"	"global secondary structure of tLRAT as well as its membrane binding properties remain almost unchanged with the S175R mutation, but no enzymatic activity was observed"	"In vitro (cloned)"	"?"	""	"0"	""	""	"g.154744851T>A"	""	"pathogenic"	""
"0000868174"	"3"	"90"	"4"	"155666003"	"155666003"	"subst"	"0"	"00000"	"LRAT_000047"	"g.155666003T>A"	""	"{PMID:Scholl 2015:26656277}"	""	"LRAT c.525T>A, p.Ser175Arg"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.154744851T>A"	""	"pathogenic"	""
"0000868175"	"3"	"90"	"4"	"155665659"	"155665659"	"subst"	"2.03118E-5"	"00000"	"LRAT_000044"	"g.155665659T>A"	""	"{PMID:Scholl 2015:26656277}"	""	"LRAT c.181T>A, p.Tyr61Asp"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.154744507T>A"	""	"pathogenic"	""
"0000868176"	"3"	"90"	"4"	"155665905"	"155665906"	"del"	"0"	"00000"	"LRAT_000046"	"g.155665905_155665906del"	""	"{PMID:Scholl 2015:26656277}"	""	"LRAT c.427_428delCG, p.Arg143ValfsX3"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.154744753_154744754del"	""	"pathogenic"	""
"0000868179"	"3"	"90"	"4"	"155665997"	"155665997"	"del"	"0"	"00000"	"LRAT_000007"	"g.155665997del"	""	"{PMID:Scholl 2015:26656277}"	""	"LRAT c.519delG, p.Ile174SerfsX12"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.154744845del"	""	"pathogenic"	""
"0000868181"	"3"	"90"	"4"	"155665518"	"155665519"	"delins"	"0"	"00000"	"LRAT_000043"	"g.155665518_155665519delinsTT"	""	"{PMID:Scholl 2015:26656277}"	""	"LRAT c.40_41delGAinsTT, p.Glu14Leu"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.154744366_154744367delinsTT"	""	"pathogenic"	""
"0000868198"	"3"	"90"	"4"	"155670121"	"155670121"	"subst"	"4.06636E-6"	"00000"	"LRAT_000048"	"g.155670121T>G"	""	"{PMID:Chen 2018:29973277}"	""	"LRAT c.541-15T>G"	"homozygous; exon 3 skipping in minigene assays"	"Germline"	"yes"	""	"0"	""	""	"g.154748969T>G"	""	"pathogenic"	""
"0000868199"	"3"	"90"	"4"	"155670121"	"155670121"	"subst"	"4.06636E-6"	"00000"	"LRAT_000048"	"g.155670121T>G"	""	"{PMID:Chen 2018:29973277}"	""	"LRAT c.541-15T>G"	"homozygous; exon 3 skipping in minigene assays"	"Germline"	"yes"	""	"0"	""	""	"g.154748969T>G"	""	"pathogenic"	""
"0000868200"	"3"	"90"	"4"	"155670121"	"155670121"	"subst"	"4.06636E-6"	"00000"	"LRAT_000048"	"g.155670121T>G"	""	"{PMID:Chen 2018:29973277}"	""	"LRAT c.541-15T>G"	"homozygous; exon 3 skipping in minigene assays"	"Germline"	"yes"	""	"0"	""	""	"g.154748969T>G"	""	"pathogenic"	""
"0000868201"	"3"	"90"	"4"	"155670121"	"155670121"	"subst"	"4.06636E-6"	"00000"	"LRAT_000048"	"g.155670121T>G"	""	"{PMID:Chen 2018:29973277}"	""	"LRAT c.541-15T>G"	"homozygous; exon 3 skipping in minigene assays"	"Germline"	"yes"	""	"0"	""	""	"g.154748969T>G"	""	"pathogenic"	""
"0000868202"	"3"	"90"	"4"	"155670121"	"155670121"	"subst"	"4.06636E-6"	"00000"	"LRAT_000048"	"g.155670121T>G"	""	"{PMID:Chen 2018:29973277}"	""	"LRAT c.541-15T>G"	"homozygous; exon 3 skipping in minigene assays"	"Germline"	"yes"	""	"0"	""	""	"g.154748969T>G"	""	"pathogenic"	""
"0000868203"	"3"	"90"	"4"	"155670121"	"155670121"	"subst"	"4.06636E-6"	"00000"	"LRAT_000048"	"g.155670121T>G"	""	"{PMID:Chen 2018:29973277}"	""	"LRAT c.541-15T>G"	"homozygous; exon 3 skipping in minigene assays"	"Germline"	"yes"	""	"0"	""	""	"g.154748969T>G"	""	"pathogenic"	""
"0000868231"	"3"	"70"	"4"	"155665490"	"155665490"	"del"	"0"	"00000"	"LRAT_000011"	"g.155665490del"	""	"{PMID:Talib 2019:31448181}"	""	"LRAT c.12del, p.[Met5Cysfs*53]"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.154744338del"	""	"likely pathogenic"	""
"0000868232"	"3"	"70"	"4"	"155665490"	"155665490"	"del"	"0"	"00000"	"LRAT_000011"	"g.155665490del"	""	"{PMID:Talib 2019:31448181}"	""	"LRAT c.12del, p.[Met5Cysfs*53]"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.154744338del"	""	"likely pathogenic"	""
"0000868233"	"3"	"70"	"4"	"155665490"	"155665490"	"del"	"0"	"00000"	"LRAT_000011"	"g.155665490del"	""	"{PMID:Talib 2019:31448181}"	""	"LRAT c.12del, p.[Met5Cysfs*53]"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.154744338del"	""	"likely pathogenic"	""
"0000868234"	"3"	"70"	"4"	"155665490"	"155665490"	"del"	"0"	"00000"	"LRAT_000011"	"g.155665490del"	""	"{PMID:Talib 2019:31448181}"	""	"LRAT c.12del, p.[Met5Cysfs*53]"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.154744338del"	""	"likely pathogenic"	""
"0000868235"	"3"	"70"	"4"	"155665490"	"155665490"	"del"	"0"	"00000"	"LRAT_000011"	"g.155665490del"	""	"{PMID:Talib 2019:31448181}"	""	"LRAT c.12del, p.[Met5Cysfs*53]"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.154744338del"	""	"likely pathogenic"	""
"0000868236"	"3"	"70"	"4"	"155665490"	"155665490"	"del"	"0"	"00000"	"LRAT_000011"	"g.155665490del"	""	"{PMID:Talib 2019:31448181}"	""	"LRAT c.12del, p.[Met5Cysfs*53]"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.154744338del"	""	"likely pathogenic"	""
"0000868237"	"3"	"70"	"4"	"155665490"	"155665490"	"del"	"0"	"00000"	"LRAT_000011"	"g.155665490del"	""	"{PMID:Talib 2019:31448181}"	""	"LRAT c.12del, p.[Met5Cysfs*53]"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.154744338del"	""	"likely pathogenic"	""
"0000868238"	"3"	"70"	"4"	"155665490"	"155665490"	"del"	"0"	"00000"	"LRAT_000011"	"g.155665490del"	""	"{PMID:Talib 2019:31448181}"	""	"LRAT c.12del, p.[Met5Cysfs*53]"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.154744338del"	""	"likely pathogenic"	""
"0000868239"	"3"	"70"	"4"	"155665490"	"155665490"	"del"	"0"	"00000"	"LRAT_000011"	"g.155665490del"	""	"{PMID:Talib 2019:31448181}"	""	"LRAT c.12del, p.[Met5Cysfs*53]"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.154744338del"	""	"likely pathogenic"	""
"0000868240"	"3"	"70"	"4"	"155665490"	"155665490"	"del"	"0"	"00000"	"LRAT_000011"	"g.155665490del"	""	"{PMID:Talib 2019:31448181}"	""	"LRAT c.12del, p.[Met5Cysfs*53]"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.154744338del"	""	"likely pathogenic"	""
"0000868241"	"3"	"70"	"4"	"155665490"	"155665490"	"del"	"0"	"00000"	"LRAT_000011"	"g.155665490del"	""	"{PMID:Talib 2019:31448181}"	""	"LRAT c.12del, p.[Met5Cysfs*53]"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.154744338del"	""	"likely pathogenic"	""
"0000868242"	"3"	"70"	"4"	"155665490"	"155665490"	"del"	"0"	"00000"	"LRAT_000011"	"g.155665490del"	""	"{PMID:Talib 2019:31448181}"	""	"LRAT c.12del, p.[Met5Cysfs*53]"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.154744338del"	""	"likely pathogenic"	""
"0000868243"	"3"	"70"	"4"	"155665804"	"155665804"	"subst"	"0"	"00000"	"LRAT_000027"	"g.155665804G>T"	""	"{PMID:Talib 2019:31448181}"	""	"LRAT c.326G>T, p.[Arg109Leu]"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.154744652G>T"	""	"likely pathogenic"	""
"0000886173"	"0"	"30"	"4"	"155665997"	"155665997"	"subst"	"1.23255E-5"	"02330"	"LRAT_000049"	"g.155665997G>T"	""	""	""	"LRAT(NM_004744.5):c.519G>T (p.P173=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000948278"	"0"	"70"	"4"	"155670164"	"155670164"	"subst"	"4.46886E-5"	"02327"	"LRAT_000024"	"g.155670164G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000958899"	"3"	"50"	"4"	"155665966"	"155665966"	"subst"	"0"	"00006"	"LRAT_000050"	"g.155665966A>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PM5"	"Germline"	""	""	"0"	""	""	"g.154744814A>T"	""	"VUS"	"ACMG"
"0001034401"	"0"	"50"	"4"	"155665693"	"155665693"	"subst"	"0"	"02327"	"LRAT_000051"	"g.155665693A>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 LRAT
## Count = 103
"{{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}}"
"0000162770"	"00023999"	"90"	"418"	"0"	"418"	"0"	"c.418G>T"	"r.(?)"	"p.(Glu140*)"	"2"
"0000162783"	"00023999"	"90"	"538"	"0"	"538"	"0"	"c.538A>T"	"r.(?)"	"p.(Lys180*)"	"2"
"0000279461"	"00023999"	"30"	"696"	"0"	"696"	"0"	"c.*3T>G"	"r.(=)"	"p.(=)"	""
"0000279462"	"00023999"	"10"	"174"	"0"	"174"	"0"	"c.174G>C"	"r.(?)"	"p.(Leu58=)"	""
"0000279463"	"00023999"	"10"	"627"	"0"	"627"	"0"	"c.627G>A"	"r.(?)"	"p.(Thr209=)"	""
"0000345619"	"00023999"	"50"	"299"	"0"	"299"	"0"	"c.299G>A"	"r.(?)"	"p.(Gly100Asp)"	""
"0000346610"	"00023999"	"90"	"519"	"0"	"519"	"0"	"c.519del"	"r.(?)"	"p.(Ile174SerfsTer12)"	""
"0000392087"	"00023999"	"70"	"163"	"0"	"163"	"0"	"c.163C>G"	"r.(?)"	"p.(Arg55Gly)"	"2"
"0000476413"	"00023999"	"50"	"111"	"0"	"111"	"0"	"c.111C>G"	"r.(?)"	"p.(Asn37Lys)"	""
"0000476414"	"00023999"	"50"	"418"	"0"	"418"	"0"	"c.418G>A"	"r.(?)"	"p.(Glu140Lys)"	""
"0000521892"	"00023999"	"90"	"12"	"0"	"12"	"0"	"c.12del"	"r.(?)"	"p.(Met5CysfsTer54)"	""
"0000521893"	"00023999"	"10"	"74"	"0"	"74"	"0"	"c.74T>A"	"r.(?)"	"p.(Phe25Tyr)"	""
"0000521894"	"00023999"	"50"	"148"	"0"	"148"	"0"	"c.148G>C"	"r.(?)"	"p.(Val50Leu)"	""
"0000621369"	"00023999"	"30"	"300"	"0"	"300"	"0"	"c.300C>T"	"r.(?)"	"p.(Gly100=)"	""
"0000684631"	"00023999"	"70"	"312"	"0"	"312"	"0"	"c.312del"	"r.(?)"	"p.(Val105Trpfs*61)"	""
"0000684632"	"00023999"	"70"	"644"	"0"	"645"	"0"	"c.644_645del"	"r.(?)"	"p.(Thr215Asnfs*?)"	""
"0000710226"	"00023999"	"90"	"614"	"0"	"615"	"0"	"c.614_615del"	"r.(?)"	"p.(Ser205Tyrfs*51)"	""
"0000710290"	"00023999"	"50"	"658"	"0"	"658"	"0"	"c.658A>C"	"r.(?)"	"p.(Ile220Leu)"	""
"0000719798"	"00023999"	"50"	"314"	"0"	"314"	"0"	"c.314T>G"	"r.(?)"	"p.(Val105Gly)"	""
"0000731145"	"00023999"	"90"	"346"	"0"	"346"	"0"	"c.346T>C"	"r.(?)"	"p.(Phe116Leu)"	""
"0000760210"	"00023999"	"50"	"473"	"0"	"473"	"0"	"c.473G>A"	"r.(?)"	"p.(Trp158*)"	""
"0000765869"	"00023999"	"70"	"233"	"0"	"242"	"0"	"c.233_242del"	"r.(?)"	"p.(Leu78ArgfsTer85)"	""
"0000786336"	"00023999"	"90"	"569"	"0"	"569"	"0"	"c.569G>A"	"r.(?)"	"p.(Arg190His)"	""
"0000786385"	"00023999"	"90"	"298"	"0"	"298"	"0"	"c.298G>T"	"r.(?)"	"p.(Gly100Cys)"	""
"0000788137"	"00023999"	"70"	"163"	"0"	"163"	"0"	"c.163C>T"	"r.(?)"	"p.(Arg55Trp)"	""
"0000790533"	"00023999"	"50"	"74"	"0"	"74"	"0"	"c.74T>A"	"r.(?)"	"p.(Phe25Tyr)"	""
"0000790569"	"00023999"	"50"	"271"	"0"	"271"	"0"	"c.271G>A"	"r.(?)"	"p.(Val91Met)"	""
"0000790608"	"00023999"	"50"	"74"	"0"	"74"	"0"	"c.74T>A"	"r.(?)"	"p.(Phe25Tyr)"	""
"0000790729"	"00023999"	"70"	"326"	"0"	"326"	"0"	"c.326G>T"	"r.(?)"	"p.(Arg109Leu)"	""
"0000791596"	"00023999"	"90"	"163"	"0"	"163"	"0"	"c.163C>T"	"r.(?)"	"p.(Arg55Trp)"	"2"
"0000791597"	"00023999"	"90"	"163"	"0"	"163"	"0"	"c.163C>T"	"r.(?)"	"p.(Arg55Trp)"	"2"
"0000791631"	"00023999"	"90"	""	"0"	""	"0"	"c.-123_*3982{0}"	"r.0"	"p.0"	"_1_3_"
"0000791632"	"00023999"	"90"	""	"0"	""	"0"	"c.-123_*3982{0}"	"r.0"	"p.0"	"_1_3_"
"0000793724"	"00023999"	"50"	"519"	"0"	"519"	"0"	"c.519del"	"r.(?)"	"p.(Ile174Serfs*12)"	"1"
"0000793889"	"00023999"	"70"	"12"	"0"	"12"	"0"	"c.12del"	"r.(?)"	"p.(Met5Cysfs*54)"	"1"
"0000793890"	"00023999"	"70"	"12"	"0"	"12"	"0"	"c.12del"	"r.(?)"	"p.(Met5Cysfs*54)"	"1"
"0000793891"	"00023999"	"70"	"12"	"0"	"12"	"0"	"c.12del"	"r.(?)"	"p.(Met5Cysfs*54)"	"1"
"0000793892"	"00023999"	"70"	"12"	"0"	"12"	"0"	"c.12del"	"r.(?)"	"p.(Met5Cysfs*54)"	"1"
"0000794732"	"00023999"	"90"	"233"	"0"	"242"	"0"	"c.233_242del"	"r.(?)"	"p.(Leu78Argfs*85)"	""
"0000794736"	"00023999"	"90"	"241"	"0"	"242"	"0"	"c.241_242del"	"r.(?)"	"p.(Leu81Aspfs*40)"	""
"0000796205"	"00023999"	"90"	"217"	"0"	"218"	"0"	"c.217_218del"	"r.?"	"p.(Met73Aspfs*48)"	"1"
"0000796240"	"00023999"	"90"	"614"	"0"	"614"	"0"	"c.614C>A"	"r.(?)"	"p.?"	"1"
"0000796771"	"00023999"	"90"	"233"	"0"	"242"	"0"	"c.233_242del"	"r.(?)"	"p.(Leu78Argfs*85)"	"1"
"0000796772"	"00023999"	"90"	"449"	"0"	"449"	"0"	"c.449dup"	"r.(?)"	"p.(Phe151Leufs*33)"	"1"
"0000798026"	"00023999"	"70"	"264"	"0"	"265"	"0"	"c.264_265dup"	"r.(?)"	"p.(Gln89Argfs*78)"	""
"0000798134"	"00023999"	"70"	"163"	"0"	"163"	"0"	"c.163C>G"	"r.(?)"	"p.(Arg55Gly)"	""
"0000798437"	"00023999"	"70"	"74"	"0"	"74"	"0"	"c.74T>A"	"r.(?)"	"p.(Phe25Tyr)"	""
"0000801551"	"00023999"	"90"	"554"	"0"	"555"	"0"	"c.554_555del"	"r.(?)"	"p.(Val185Glufs*6)"	""
"0000810872"	"00023999"	"30"	"541"	"-37"	"541"	"-37"	"c.541-37G>A"	"r.(=)"	"p.(=)"	""
"0000812033"	"00023999"	"70"	"163"	"0"	"163"	"0"	"c.163C>G"	"r.(?)"	"p.(Arg55Gly)"	"2"
"0000812465"	"00023999"	"70"	"487"	"0"	"487"	"0"	"c.487C>G"	"r.(?)"	"p.(His163Asp)"	"2"
"0000812466"	"00023999"	"70"	"157"	"0"	"159"	"0"	"c.157_159dup"	"r.(?)"	"p.(Val53dup)"	"2"
"0000820097"	"00023999"	"70"	"487"	"0"	"487"	"0"	"c.487C>G"	"r.(?)"	"p.(His163Asp)"	""
"0000820436"	"00023999"	"70"	"449"	"0"	"449"	"0"	"c.449dup"	"r.(?)"	"p.(Phe151Leufs*33)"	""
"0000823369"	"00023999"	"50"	"298"	"0"	"298"	"0"	"c.298G>A"	"r.(?)"	"p.(Gly100Ser)"	""
"0000823370"	"00023999"	"50"	"346"	"0"	"346"	"0"	"c.346T>C"	"r.(?)"	"p.(Phe116Leu)"	""
"0000823371"	"00023999"	"50"	"298"	"0"	"298"	"0"	"c.298G>A"	"r.(?)"	"p.(Gly100Ser)"	""
"0000823372"	"00023999"	"50"	"298"	"0"	"298"	"0"	"c.298G>A"	"r.(?)"	"p.(Gly100Ser)"	""
"0000823373"	"00023999"	"50"	"163"	"0"	"163"	"0"	"c.163C>G"	"r.(?)"	"p.(Arg55Gly)"	""
"0000823374"	"00023999"	"50"	"346"	"0"	"346"	"0"	"c.346T>C"	"r.(?)"	"p.(Phe116Leu)"	""
"0000823440"	"00023999"	"50"	"163"	"0"	"163"	"0"	"c.163C>G"	"r.(?)"	"p.(Arg55Gly)"	""
"0000823502"	"00023999"	"50"	"298"	"0"	"298"	"0"	"c.298G>A"	"r.(?)"	"p.(Gly100Ser)"	""
"0000829437"	"00023999"	"50"	"236"	"0"	"236"	"0"	"c.236T>G"	"r.(?)"	"p.?"	"1"
"0000844634"	"00023999"	"70"	"325"	"0"	"325"	"0"	"c.325C>T"	"r.(?)"	"p.(Arg109Cys)"	""
"0000844647"	"00023999"	"70"	"569"	"0"	"569"	"0"	"c.569G>A"	"r.(?)"	"p.(Arg190His)"	""
"0000868164"	"00023999"	"70"	"525"	"0"	"525"	"0"	"c.525T>A"	"r.(?)"	"p.(Ser175Arg)"	""
"0000868165"	"00023999"	"70"	"40"	"0"	"41"	"0"	"c.40_41delinsTT"	"r.(?)"	"p.(Glu14Leu)"	""
"0000868166"	"00023999"	"70"	"181"	"0"	"181"	"0"	"c.181T>A"	"r.(?)"	"p.(Tyr61Asn)"	""
"0000868167"	"00023999"	"50"	"316"	"0"	"316"	"0"	"c.316G>A"	"r.(?)"	"p.(Ala106Thr)"	""
"0000868168"	"00023999"	"70"	"525"	"0"	"525"	"0"	"c.525T>A"	"r.(?)"	"p.(Ser175Arg)"	""
"0000868169"	"00023999"	"70"	"525"	"0"	"525"	"0"	"c.525T>A"	"r.(?)"	"p.(Ser175Arg)"	""
"0000868170"	"00023999"	"70"	"400"	"0"	"401"	"0"	"c.400_401del"	"r.(?)"	"p.(Lys134Glyfs*12)"	""
"0000868171"	"00023999"	"30"	"518"	"0"	"518"	"0"	"c.518C>T"	"r.(?)"	"p.(Pro173Leu)"	""
"0000868172"	"00023999"	"70"	"217"	"0"	"218"	"0"	"c.217_218delAT"	"r.(?)"	"p.(Met73Aspfs*48)"	""
"0000868173"	"00023999"	"90"	"525"	"0"	"525"	"0"	"c.525T>A"	"r.(?)"	"p.(Ser175Arg)"	""
"0000868174"	"00023999"	"90"	"525"	"0"	"525"	"0"	"c.525T>A"	"r.(?)"	"p.(Ser175Arg)"	""
"0000868175"	"00023999"	"90"	"181"	"0"	"181"	"0"	"c.181T>A"	"r.(?)"	"p.(Tyr61Asn)"	""
"0000868176"	"00023999"	"90"	"427"	"0"	"428"	"0"	"c.427_428delCG"	"r.(?)"	"p.(Arg143Glufs*3)"	""
"0000868179"	"00023999"	"90"	"519"	"0"	"519"	"0"	"c.519delG"	"r.(?)"	"p.(Ile174Serfs*12)"	""
"0000868181"	"00023999"	"90"	"40"	"0"	"41"	"0"	"c.40_41delGAinsTT"	"r.(?)"	"p.(Glu14Leu)"	""
"0000868198"	"00023999"	"30"	"541"	"-15"	"541"	"-15"	"c.541-15T>G"	"r.(?)"	"p.(?)"	"2i"
"0000868199"	"00023999"	"30"	"541"	"-15"	"541"	"-15"	"c.541-15T>G"	"r.(?)"	"p.(?)"	"2i"
"0000868200"	"00023999"	"30"	"541"	"-15"	"541"	"-15"	"c.541-15T>G"	"r.(?)"	"p.(?)"	"2i"
"0000868201"	"00023999"	"30"	"541"	"-15"	"541"	"-15"	"c.541-15T>G"	"r.(?)"	"p.(?)"	"2i"
"0000868202"	"00023999"	"30"	"541"	"-15"	"541"	"-15"	"c.541-15T>G"	"r.(?)"	"p.(?)"	"2i"
"0000868203"	"00023999"	"30"	"541"	"-15"	"541"	"-15"	"c.541-15T>G"	"r.(?)"	"p.(?)"	"2i"
"0000868231"	"00023999"	"70"	"12"	"0"	"12"	"0"	"c.12del"	"r.(?)"	"p.(Met5Cysfs*54)"	""
"0000868232"	"00023999"	"70"	"12"	"0"	"12"	"0"	"c.12del"	"r.(?)"	"p.(Met5Cysfs*54)"	""
"0000868233"	"00023999"	"70"	"12"	"0"	"12"	"0"	"c.12del"	"r.(?)"	"p.(Met5Cysfs*54)"	""
"0000868234"	"00023999"	"70"	"12"	"0"	"12"	"0"	"c.12del"	"r.(?)"	"p.(Met5Cysfs*54)"	""
"0000868235"	"00023999"	"70"	"12"	"0"	"12"	"0"	"c.12del"	"r.(?)"	"p.(Met5Cysfs*54)"	""
"0000868236"	"00023999"	"70"	"12"	"0"	"12"	"0"	"c.12del"	"r.(?)"	"p.(Met5Cysfs*54)"	""
"0000868237"	"00023999"	"70"	"12"	"0"	"12"	"0"	"c.12del"	"r.(?)"	"p.(Met5Cysfs*54)"	""
"0000868238"	"00023999"	"70"	"12"	"0"	"12"	"0"	"c.12del"	"r.(?)"	"p.(Met5Cysfs*54)"	""
"0000868239"	"00023999"	"70"	"12"	"0"	"12"	"0"	"c.12del"	"r.(?)"	"p.(Met5Cysfs*54)"	""
"0000868240"	"00023999"	"70"	"12"	"0"	"12"	"0"	"c.12del"	"r.(?)"	"p.(Met5Cysfs*54)"	""
"0000868241"	"00023999"	"70"	"12"	"0"	"12"	"0"	"c.12del"	"r.(?)"	"p.(Met5Cysfs*54)"	""
"0000868242"	"00023999"	"70"	"12"	"0"	"12"	"0"	"c.12del"	"r.(?)"	"p.(Met5Cysfs*54)"	""
"0000868243"	"00023999"	"70"	"326"	"0"	"326"	"0"	"c.326G>T"	"r.(?)"	"p.(Arg109Leu)"	""
"0000886173"	"00023999"	"30"	"519"	"0"	"519"	"0"	"c.519G>T"	"r.(?)"	"p.(Pro173=)"	""
"0000948278"	"00023999"	"70"	"569"	"0"	"569"	"0"	"c.569G>A"	"r.(?)"	"p.(Arg190His)"	""
"0000958899"	"00023999"	"50"	"488"	"0"	"488"	"0"	"c.488A>T"	"r.(?)"	"p.(His163Leu)"	""
"0001034401"	"00023999"	"50"	"215"	"0"	"215"	"0"	"c.215A>C"	"r.(?)"	"p.(His72Pro)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 89
"{{screeningid}}"	"{{variantid}}"
"0000100471"	"0000162770"
"0000100484"	"0000162783"
"0000171733"	"0000392087"
"0000233705"	"0000476413"
"0000233706"	"0000476414"
"0000309758"	"0000684631"
"0000309759"	"0000684632"
"0000326634"	"0000710226"
"0000326698"	"0000710290"
"0000333491"	"0000731145"
"0000360318"	"0000760210"
"0000364927"	"0000765869"
"0000375069"	"0000786336"
"0000375069"	"0000786385"
"0000376529"	"0000788137"
"0000377971"	"0000790533"
"0000377978"	"0000790569"
"0000377990"	"0000790608"
"0000378060"	"0000790729"
"0000378743"	"0000791596"
"0000378743"	"0000791631"
"0000378744"	"0000791597"
"0000378744"	"0000791632"
"0000380579"	"0000793724"
"0000380719"	"0000793889"
"0000380720"	"0000793890"
"0000380721"	"0000793891"
"0000380722"	"0000793892"
"0000381331"	"0000794732"
"0000381335"	"0000794736"
"0000382406"	"0000796205"
"0000382427"	"0000796240"
"0000382859"	"0000796771"
"0000382860"	"0000796772"
"0000383774"	"0000798026"
"0000383850"	"0000798134"
"0000384015"	"0000798437"
"0000384291"	"0000810872"
"0000385148"	"0000812033"
"0000385417"	"0000812465"
"0000385418"	"0000812466"
"0000390752"	"0000820097"
"0000391091"	"0000820436"
"0000392900"	"0000823369"
"0000392901"	"0000823370"
"0000392901"	"0000823502"
"0000392902"	"0000823371"
"0000392903"	"0000823372"
"0000392904"	"0000823373"
"0000392905"	"0000823374"
"0000392970"	"0000823440"
"0000397450"	"0000829437"
"0000407838"	"0000844634"
"0000407838"	"0000844647"
"0000411132"	"0000868164"
"0000411133"	"0000868165"
"0000411134"	"0000868166"
"0000411135"	"0000868167"
"0000411136"	"0000868168"
"0000411137"	"0000868169"
"0000411138"	"0000868170"
"0000411139"	"0000868171"
"0000411140"	"0000868172"
"0000411141"	"0000868173"
"0000411142"	"0000868174"
"0000411143"	"0000868175"
"0000411144"	"0000868176"
"0000411147"	"0000868179"
"0000411149"	"0000868181"
"0000411160"	"0000868198"
"0000411161"	"0000868199"
"0000411162"	"0000868200"
"0000411163"	"0000868201"
"0000411164"	"0000868202"
"0000411165"	"0000868203"
"0000411192"	"0000868231"
"0000411193"	"0000868232"
"0000411194"	"0000868233"
"0000411195"	"0000868234"
"0000411196"	"0000868235"
"0000411197"	"0000868236"
"0000411198"	"0000868237"
"0000411199"	"0000868238"
"0000411200"	"0000868239"
"0000411201"	"0000868240"
"0000411202"	"0000868241"
"0000411203"	"0000868242"
"0000411204"	"0000868243"
"0000449132"	"0000958899"