### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PRPF3)
# 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}}"
"PRPF3"	"PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"	"1"	"q21.1"	"unknown"	"NG_008245.1"	"UD_132118828942"	""	"https://www.LOVD.nl/PRPF3"	""	"1"	"17348"	"9129"	"607301"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/PRPF3_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2012-07-16 00:00:00"	"00006"	"2020-11-25 19:52:55"	"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}}"
"00016895"	"PRPF3"	"PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae)"	"001"	"NM_004698.2"	""	"NP_004689.1"	""	""	""	"-162"	"2301"	"2052"	"150293928"	"150325704"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 6
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00112"	"RP"	"retinitis pigmentosa (RP)"	""	"268000"	""	""	""	"00001"	"2013-02-21 17:12:36"	"00006"	"2021-01-18 09:53:26"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"01680"	"BCD"	"dystrophy, corneoretinal, crystalline, Bietti (BCD)"	"AR"	"210370"	"eyes"	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"02156"	"-"	"retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness"	""	"300455"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"02361"	"RP18"	"retinitis pigmentosa, type 18 (RP18)"	"AD"	"601414"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"PRPF3"	"02361"


## Individuals ## Do not remove or alter this header ##
## Count = 93
"{{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}}"
"00052949"	""	""	""	"1"	""	"01424"	"{PMID:Wang 2014:25097241}"	""	"F"	"?"	"United States"	""	"0"	""	""	""	"32"
"00231978"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1203  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00231979"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1203  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00231980"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00231981"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00309307"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"family"	""	""	"Israel"	""	"0"	""	""	""	""
"00320015"	""	""	""	"1"	""	"00008"	"{PMID:Martínez-Gimeno 2003:12714658}"	""	""	""	""	""	"0"	""	""	"Spanish"	""
"00333506"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"M"	""	"(United States)"	""	"0"	""	""	""	"50"
"00333588"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"297"
"00335646"	""	""	""	"1"	""	"00008"	"{PMID:Sullivan 2006:16799052}"	"1 family"	""	""	"United States"	""	"0"	""	""	""	""
"00335647"	""	""	""	"1"	""	"00008"	"{PMID:Sullivan 2006:16799052}"	"1 family"	""	""	"United States"	""	"0"	""	""	""	""
"00335948"	""	""	""	"1"	""	"00000"	"{PMID:Roberts 2016:27898983}"	"family, see paper"	""	""	"South Africa"	""	"0"	""	""	"Tswana"	"RP391"
"00359381"	""	""	""	"1"	""	"00000"	"{PMID:Bravo-Gil 2016:27032803}"	"see paper"	""	""	"Spain"	""	"0"	""	""	""	"264"
"00363873"	""	""	""	"1"	""	"00004"	"{PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}"	"family"	""	""	"Israel"	""	"0"	""	""	"Jewish-Yemenite"	"MOL0108"
"00372647"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"family"	"M"	""	"China"	""	"0"	""	""	""	"RP259"
"00372698"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP372"
"00373486"	""	""	""	"4"	""	"00000"	"{PMID:Fernandez-San Jose 2015:25698705}"	"family, 4 affected"	""	""	"Spain"	""	"0"	""	""	""	"RP0258"
"00373812"	""	""	""	"1"	""	"00000"	"{PMID:Méndez-Vidal 2014:25494902}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat9"
"00377393"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377394"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377395"	""	""	""	"1"	""	"00000"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00377818"	""	""	""	"1"	""	"00000"	"{PMID:Avila Fernandez 2010:21151602}"	""	""	""	""	""	"0"	""	""	"Spanish"	""
"00377943"	""	""	""	"1"	""	"00000"	"{PMID:_Audo-2012:22277662}"	""	""	""	""	""	"0"	""	""	""	""
"00380246"	""	""	""	"1"	""	"00000"	"{PMID:Kim-2012:23049240}"	""	"F"	""	"China"	""	"0"	""	""	""	""
"00380247"	""	""	""	"1"	""	"00000"	"{PMID:Kim-2012:23049240}"	""	"F"	""	"China"	""	"0"	""	""	""	""
"00383071"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383076"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383077"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383079"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383086"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383099"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00384324"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2019:31106028}"	""	"M"	""	"China"	""	"0"	""	""	""	"13683"
"00385174"	""	""	""	"1"	""	"00000"	"{PMID:Jiman 2020:31836858}"	""	"M"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"67"
"00386193"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-147, proband"	"F"	""	"Spain"	""	"0"	""	""	""	"RPN-309"
"00386194"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-147, family member"	"F"	""	"Spain"	""	"0"	""	""	""	"RPN-310"
"00386264"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-39, proband"	"M"	""	"Spain"	""	"0"	""	""	""	"RPN-106"
"00386603"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"099-025"
"00386769"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI2918_004503"
"00386980"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"M"	""	"(United States)"	""	"0"	""	""	"white"	"6"
"00389504"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 307, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"788"
"00389556"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 347, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"840"
"00389557"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 347, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"841"
"00389558"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 347, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"842"
"00389559"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 347, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"843"
"00389973"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 1049, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1257"
"00390758"	""	""	""	"1"	""	"00000"	"{PMID:Booij-2011:20801516}"	""	""	""	""	""	"0"	""	""	""	""
"00394483"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"M"	"no"	""	""	"0"	""	""	""	""
"00394484"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"F"	"no"	""	""	"0"	""	""	""	""
"00395861"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F257"
"00395925"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F169"
"00407281"	""	""	""	"1"	""	"00000"	"{PMID:Wada 2005:15851576}"	""	"M"	""	"United States"	""	"0"	""	""	"American"	"001-005"
"00409525"	""	""	""	"1"	""	"00000"	"{PMID:Meng 2017:28848678}"	""	"M"	""	""	""	"0"	""	""	"Chinese"	"III:9"
"00409526"	""	""	""	"1"	""	"00000"	"{PMID:Meng 2017:28848678}"	""	"F"	""	""	""	"0"	""	""	"Chinese"	"IV:1"
"00409527"	""	""	""	"1"	""	"00000"	"{PMID:Meng 2017:28848678}"	""	"M"	""	""	""	"0"	""	""	"Chinese"	"IV:10"
"00409528"	""	""	""	"1"	""	"00000"	"{PMID:Meng 2017:28848678}"	""	"M"	""	""	""	"0"	""	""	"Chinese"	"IV:14"
"00409529"	""	""	""	"1"	""	"00000"	"{PMID:Meng 2017:28848678}"	""	"M"	""	""	""	"0"	""	""	"Chinese"	"IV:20"
"00409530"	""	""	""	"1"	""	"00000"	"{PMID:Meng 2017:28848678}"	""	"M"	""	""	""	"0"	""	""	"Chinese"	"IV:6"
"00409531"	""	""	""	"1"	""	"00000"	"{PMID:Meng 2017:28848678}"	""	"M"	""	""	""	"0"	""	""	"Chinese"	"V:12"
"00409532"	""	""	""	"1"	""	"00000"	"{PMID:Meng 2017:28848678}"	""	"F"	""	""	""	"0"	""	""	"Chinese"	"V:3"
"00409533"	""	""	""	"1"	""	"00000"	"{PMID:Meng 2017:28848678}"	""	"M"	""	""	""	"0"	""	""	"Chinese"	"V:9"
"00420490"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F169"
"00420552"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F257"
"00420783"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 21954, individual II:2; parents healthy, untested"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"21954_II:2"
"00420784"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 23188, individual II:2; 2-generation family, 2 affected"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"23188_II:2"
"00420785"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 4635, individual II:1; 2-generation family, 2 affected"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"4635_II:1"
"00420786"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 20827, individual II:1; parents healthy, untested"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"20827_II:1"
"00420787"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 18941, individual II:4; parents healthy, untested"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"18941_II:4"
"00420788"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 9982, individual I:2; 2-generation family, 2 affected"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"9982_I:2"
"00420789"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2022:35138024}"	"family 9982, individual II:1; 2-generation family, 2 affected"	"F"	""	"China"	""	"0"	""	""	"Chinese"	"9982_II:1"
"00426741"	""	""	""	"1"	""	"00000"	"{PMID:Chakarova 2002:11773002}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"English"	""
"00426742"	""	""	""	"1"	""	"00000"	"{PMID:Chakarova 2002:11773002}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"British"	""
"00426743"	""	""	""	"1"	""	"00000"	"{PMID:Chakarova 2002:11773002}"	""	""	""	""	""	"0"	""	""	"Danish"	""
"00426744"	""	""	""	"1"	""	"00000"	"{PMID:Chakarova 2002:11773002}"	""	""	""	""	""	"0"	""	""	""	""
"00426745"	""	""	""	"1"	""	"00000"	"{PMID:Chakarova 2002:11773002}"	""	""	""	""	""	"0"	""	""	""	""
"00426746"	""	""	""	"1"	""	"00000"	"{PMID:Wada 2004:15085354}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00426747"	""	""	""	"1"	""	"00000"	"{PMID:Wada 2004:15085354}"	""	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00426748"	""	""	""	"1"	""	"00000"	"{PMID:Wada 2004:15085354}"	""	"M"	""	"Japan"	""	"0"	""	""	"Japanese"	""
"00426749"	""	""	""	"1"	""	"00000"	"{PMID:Vaclavik 2010:20309403}"	""	"F"	""	"Switzerland"	""	"0"	""	""	"Swiss"	"III.3"
"00426750"	""	""	""	"1"	""	"00000"	"{PMID:Vaclavik 2010:20309403}"	""	"M"	""	"Switzerland"	""	"0"	""	""	"Swiss"	"IV.3"
"00426751"	""	""	""	"1"	""	"00000"	"{PMID:Vaclavik 2010:20309403}"	""	"M"	""	"Switzerland"	""	"0"	""	""	"Swiss"	"IV.4"
"00426752"	""	""	""	"1"	""	"00000"	"{PMID:Vaclavik 2010:20309403}"	""	"M"	""	"Switzerland"	""	"0"	""	""	"Swiss"	"III.8"
"00426753"	""	""	""	"1"	""	"00000"	"{PMID:Vaclavik 2010:20309403}"	""	"F"	""	"Switzerland"	""	"0"	""	""	"Swiss"	"IV.6"
"00426754"	""	""	""	"1"	""	"00000"	"{PMID:Vaclavik 2010:20309403}"	""	"F"	""	"Switzerland"	""	"0"	""	""	"Swiss"	"III.9"
"00426755"	""	""	""	"1"	""	"00000"	"{PMID:Vaclavik 2010:20309403}"	""	"F"	""	"Switzerland"	""	"0"	""	""	"Swiss"	"IV.9"
"00426756"	""	""	""	"1"	""	"00000"	"{PMID:Vaclavik 2010:20309403}"	""	"M"	""	"Switzerland"	""	"0"	""	""	"Swiss"	"V.11"
"00426757"	""	""	""	"1"	""	"00000"	"{PMID:Vaclavik 2010:20309403}"	""	"M"	""	"Switzerland"	""	"0"	""	""	"Swiss"	"III.13"
"00426758"	""	""	""	"7"	""	"00000"	"{PMID:Zhong 2016:27886254}"	""	""	""	"China"	""	"0"	""	""	"Chinese"	"Family 020001"
"00426759"	""	""	""	"3"	""	"00000"	"{PMID:Zhong 2016:27886254}"	""	""	""	"China"	""	"0"	""	""	"Chinese"	"Family 020021"
"00429650"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00436455"	""	""	""	"1"	""	"04552"	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	"M"	"no"	"Mexico"	""	""	""	"none"	"Hispanic"	"3561418"
"00447429"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"USHII-341"
"00447491"	""	""	""	"4"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"family, >3 affected"	"M"	""	"Germany"	""	"0"	""	""	""	"ADRP-507"
"00447625"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"SRP-1300"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 93
"{{individualid}}"	"{{diseaseid}}"
"00052949"	"04214"
"00231978"	"04214"
"00231979"	"04214"
"00231980"	"04214"
"00231981"	"04214"
"00309307"	"04214"
"00320015"	"04214"
"00333506"	"04214"
"00333588"	"04214"
"00335646"	"04214"
"00335647"	"04214"
"00335948"	"04214"
"00359381"	"04214"
"00363873"	"04214"
"00372647"	"04214"
"00372698"	"04214"
"00373486"	"04214"
"00373812"	"04214"
"00377393"	"04214"
"00377394"	"04214"
"00377395"	"04214"
"00377818"	"04214"
"00377943"	"04214"
"00380246"	"04214"
"00380247"	"04214"
"00383071"	"04214"
"00383076"	"04214"
"00383077"	"04214"
"00383079"	"04214"
"00383086"	"04214"
"00383099"	"04214"
"00384324"	"04214"
"00385174"	"04214"
"00386193"	"04214"
"00386194"	"04214"
"00386264"	"04214"
"00386603"	"04214"
"00386769"	"04214"
"00386980"	"04214"
"00389504"	"04214"
"00389556"	"04214"
"00389557"	"04214"
"00389558"	"04214"
"00389559"	"04214"
"00389973"	"04214"
"00390758"	"04214"
"00394483"	"04214"
"00394484"	"04214"
"00395861"	"04214"
"00395925"	"04214"
"00407281"	"04214"
"00409525"	"01680"
"00409526"	"01680"
"00409527"	"01680"
"00409528"	"01680"
"00409529"	"01680"
"00409530"	"01680"
"00409531"	"01680"
"00409532"	"01680"
"00409533"	"01680"
"00420490"	"04214"
"00420552"	"04214"
"00420783"	"04214"
"00420784"	"04214"
"00420785"	"04214"
"00420786"	"04214"
"00420787"	"04214"
"00420788"	"04214"
"00420789"	"04214"
"00426741"	"04214"
"00426742"	"04214"
"00426743"	"04214"
"00426744"	"04214"
"00426745"	"04214"
"00426746"	"04214"
"00426747"	"04214"
"00426748"	"04214"
"00426749"	"04214"
"00426750"	"04214"
"00426751"	"04214"
"00426752"	"04214"
"00426753"	"04214"
"00426754"	"04214"
"00426755"	"04214"
"00426756"	"04214"
"00426757"	"04214"
"00426758"	"04214"
"00426759"	"04214"
"00429650"	"00112"
"00436455"	"02156"
"00447429"	"00198"
"00447491"	"00198"
"00447625"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 01680, 02156, 02361, 04214
## Count = 89
"{{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}}"
"0000039526"	"04214"	"00052949"	"01424"	"Unknown"	""	"retinitis pigmentosa"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234627"	"04214"	"00309307"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000242059"	"04214"	"00320015"	"00008"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Autosomal Dominant Retinitis Pigmentosa (RPAD)"	""
"0000251690"	"04214"	"00333506"	"00000"	"Familial, autosomal dominant"	"15y"	"clinical category IA1a"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000251772"	"04214"	"00333588"	"00000"	"Familial, autosomal dominant"	"46y"	"clinical category IA1aiv"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253566"	"04214"	"00335646"	"00008"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000253567"	"04214"	"00335647"	"00008"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000253849"	"04214"	"00335948"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000254652"	"04214"	"00359381"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000259212"	"04214"	"00363873"	"00004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267926"	"04214"	"00372647"	"00000"	"Familial, autosomal dominant"	"18y"	"see paper; ..."	"5y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267977"	"04214"	"00372698"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268762"	"04214"	"00373486"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000269021"	"04214"	"00373812"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272543"	"04214"	"00377393"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP18"	"retinitis pigmentosa"	""
"0000272544"	"04214"	"00377394"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP18"	"retinitis pigmentosa"	""
"0000272545"	"04214"	"00377395"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"RP18"	"retinitis pigmentosa"	""
"0000272964"	"04214"	"00377818"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Juvenile Retinitis pigmentaria"	""
"0000273089"	"04214"	"00377943"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000274097"	"04214"	"00380246"	"00000"	"Familial, autosomal dominant"	"49y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa"	""
"0000274098"	"04214"	"00380247"	"00000"	"Familial, autosomal dominant"	"27y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa"	""
"0000276861"	"04214"	"00383071"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276866"	"04214"	"00383076"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276867"	"04214"	"00383077"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276869"	"04214"	"00383079"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276876"	"04214"	"00383086"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276889"	"04214"	"00383099"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000278109"	"04214"	"00384324"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000278970"	"04214"	"00385174"	"00000"	"Familial, autosomal dominant"	"33y7m"	"HP:0002652 Skeletal dysplasia; HP:0000510 Rod-cone dystrophy"	""	""	""	""	""	""	""	""	""	"Autosomal Dominant Retinal Dystrophy"	""
"0000279996"	"04214"	"00386193"	"00000"	"Familial, autosomal dominant"	"18y"	""	""	"16y"	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000279997"	"04214"	"00386194"	"00000"	"Familial, autosomal dominant"	"44y"	""	""	"32y"	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000280067"	"04214"	"00386264"	"00000"	"Familial, autosomal recessive"	"41y"	""	""	"9y"	""	""	""	""	""	""	"Best macular dystrophy"	"Stargardt Disease"	""
"0000280403"	"04214"	"00386603"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280569"	"04214"	"00386769"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000280758"	"04214"	"00386980"	"00000"	"Familial, autosomal dominant"	"31y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal dominant"	""	""
"0000283045"	"04214"	"00389504"	"00000"	"Familial, autosomal dominant"	"50y"	"age at genetic diagnosis mentioned"	""	"42y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283097"	"04214"	"00389556"	"00000"	"Familial, autosomal dominant"	"14y"	"age at genetic diagnosis mentioned"	""	"10y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283098"	"04214"	"00389557"	"00000"	"Familial, autosomal dominant"	"45y"	"age at genetic diagnosis mentioned"	""	"41y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283099"	"04214"	"00389558"	"00000"	"Familial, autosomal dominant"	"66y"	"age at genetic diagnosis mentioned"	""	"62y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283100"	"04214"	"00389559"	"00000"	"Familial, autosomal dominant"	"11y"	"age at genetic diagnosis mentioned"	""	"7y"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa"	""	""
"0000283514"	"04214"	"00389973"	"00000"	"Isolated (sporadic)"	"24y"	"age at genetic diagnosis mentioned"	""	"24y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000284246"	"04214"	"00390758"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000287686"	"04214"	"00394483"	"00000"	"Familial, autosomal dominant"	"42y"	""	"7y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000287687"	"04214"	"00394484"	"00000"	"Familial, autosomal dominant"	"68y"	""	"13y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000289023"	"04214"	"00395861"	"00000"	"Unknown"	"38y1m"	""	"31y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000289087"	"04214"	"00395925"	"00000"	"Unknown"	"25y7m"	""	"25y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000299635"	"04214"	"00407281"	"00000"	"Familial, autosomal dominant"	"31y"	"bone-spicule pigment +/+"	"22y"	""	"Night Blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000301642"	"01680"	"00409525"	"00000"	"Familial, autosomal recessive"	"80y"	"best corrected visual acuity right, left eye: light perception, light perception; eye complications: cataract"	""	""	"night blindness"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000301643"	"01680"	"00409526"	"00000"	"Familial, autosomal recessive"	"82y"	"best corrected visual acuity right, left eye: light perception, light perception; eye complications: cataract"	""	""	"night blindness"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000301644"	"01680"	"00409527"	"00000"	"Familial, autosomal recessive"	"39y"	"best corrected visual acuity right, left eye: 20/200, 20/200; eye complications: none"	""	""	"night blindness"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000301645"	"01680"	"00409528"	"00000"	"Familial, autosomal recessive"	"55y"	"best corrected visual acuity right, left eye: 20/100, 20/200; eye complications: cataract"	""	""	"night blindness"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000301646"	"01680"	"00409529"	"00000"	"Familial, autosomal recessive"	"45y"	"best corrected visual acuity right, left eye: 20/100, 20/200; eye complications: none"	""	""	"night blindness"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000301647"	"01680"	"00409530"	"00000"	"Familial, autosomal recessive"	"57y"	"best corrected visual acuity right, left eye: light perception, light perception; eye complications: cataract"	""	""	"night blindness"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000301648"	"01680"	"00409531"	"00000"	"Familial, autosomal recessive"	"22y"	"best corrected visual acuity right, left eye: 20/100, 20/100; eye complications: myopia"	""	""	"night blindness"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000301649"	"01680"	"00409532"	"00000"	"Familial, autosomal recessive"	"55y"	"best corrected visual acuity right, left eye: 20/10, 20/200; eye complications: none; systemic diseases: breast cancer"	""	""	"night blindness"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000301650"	"01680"	"00409533"	"00000"	"Familial, autosomal recessive"	"43y"	"best corrected visual acuity right, left eye: 20/200, light perception; eye complications: myopia"	""	""	"night blindness"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000311738"	"04214"	"00420490"	"00000"	"Familial, autosomal dominant"	"25y7m"	""	"25y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000311800"	"04214"	"00420552"	"00000"	"Familial, autosomal dominant"	"38y1m"	""	"31y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312030"	"04214"	"00420783"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312031"	"04214"	"00420784"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312032"	"04214"	"00420785"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312033"	"04214"	"00420786"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312034"	"04214"	"00420787"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312035"	"04214"	"00420788"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000312036"	"04214"	"00420789"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000317895"	"04214"	"00426741"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317896"	"04214"	"00426742"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317897"	"04214"	"00426743"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317898"	"04214"	"00426744"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000317899"	"04214"	"00426745"	"00000"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000317900"	"04214"	"00426746"	"00000"	"Familial, autosomal dominant"	"48y"	"VA:hand motion in both eyes (40y)"	"15y"	""	"a decrease in visual acuity, night blindness, and constricted visual field"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317901"	"04214"	"00426747"	"00000"	"Familial, autosomal dominant"	"21y"	"VA:0.9 in the right eye; mild attenuation of the retinal vessels and a mottled appearance of the retinal pigment epithelium"	"2y"	""	"retinoblastoma in the left eye, and the eye was enucleated"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317902"	"04214"	"00426748"	"00000"	"Familial, autosomal dominant"	"19y"	"BCVA:s 0.4 with -5.75 to 3.5160 OD and 0.4 with -5.25 to 3.0180 OS"	"7y"	""	"poor night vision"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317903"	"04214"	"00426749"	"00000"	"Familial, autosomal dominant"	"67y"	"VA: OD:0.3/OS:0.4; Bilateral cataract operation; Optic nerve palor, migration of pigment in mid periphery"	"7y"	""	"night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317904"	"04214"	"00426750"	"00000"	"Familial, autosomal dominant"	"45y"	"VA: OD:0.6/OS:0.6; Subcapsular cataract since 25y; AF: ring of high density autofluorescence"	"2y"	""	"night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317905"	"04214"	"00426751"	"00000"	"Familial, autosomal dominant"	"27y"	"VA: OD:0.4/OS:0.3; absent ; migration of retinal pigment epithelium in mid periphery"	"<3y"	""	"night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317906"	"04214"	"00426752"	"00000"	"Familial, autosomal dominant"	"53y"	"VA: OD:0.4/OS:0.1; Bilateral cat op aged 43y; Optic nerve palor"	"7y"	""	"night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317907"	"04214"	"00426753"	"00000"	"Familial, autosomal dominant"	"39y"	"VA: OD:0.9/OS:0.8; Bilateral cat op aged 38y; Previous buckling for bilateral retinal detach."	"15y"	""	"night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317908"	"04214"	"00426754"	"00000"	"Familial, autosomal dominant"	"71y"	"VA: OD:0.8/OS:0.6; Bilateral cat op aged 60y; AF: ring of high density autofluorescence"	">18y"	""	"night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317909"	"04214"	"00426755"	"00000"	"Familial, autosomal dominant"	"46y"	"VA: OD:1.0/OS:1.0; absent ; AF: ring of high density autofluorescence. No obvious pigment deposits."	"15y"	""	"night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317910"	"04214"	"00426756"	"00000"	"Familial, autosomal dominant"	"22y"	"VA: OD:1.0/OS:1.0; absent ; AF: ring of high density autofluorescence"	"7y"	""	"night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317911"	"04214"	"00426757"	"00000"	"Familial, autosomal dominant"	"59y"	"VA: OD:0.5/OS:0.8; Bilateral cat op aged 49y; optic neuritis aged 20 years"	"20y"	""	"night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317912"	"04214"	"00426758"	"00000"	"Familial, autosomal dominant"	""	""	">10y"	""	"night blindness"	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000317913"	"04214"	"00426759"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000320522"	"00112"	"00429650"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000326633"	"02156"	"00436455"	"04552"	"Familial, autosomal dominant"	""	"Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510"	""	""	""	""	""	""	""	""	"RP18"	"Retinitis pigmentosa"	""
"0000336628"	"00198"	"00447429"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Usher syndrome"	""
"0000336690"	"00198"	"00447491"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal dominant"	""
"0000336824"	"00198"	"00447625"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""


## Screenings ## Do not remove or alter this header ##
## Count = 93
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000052897"	"00052949"	"1"	"01424"	"01424"	"2015-10-26 17:05:36"	""	""	"SEQ-NG;PCR;SEQ"	"DNA"	""	""
"0000233077"	"00231978"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233078"	"00231979"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233079"	"00231980"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000233080"	"00231981"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000310452"	"00309307"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000321199"	"00320015"	"1"	"00008"	"00008"	"2020-11-19 10:13:34"	""	""	"DGGE; SEQ"	"DNA"	"Blood"	""
"0000334732"	"00333506"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000334814"	"00333588"	"1"	"00000"	"00006"	"2021-02-26 12:01:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000336874"	"00335646"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"SEQ"	"DNA"	""	""
"0000336875"	"00335647"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"SEQ"	"DNA"	""	""
"0000337178"	"00335948"	"1"	"00000"	"00006"	"2021-03-09 16:40:10"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000360623"	"00359381"	"1"	"00000"	"00006"	"2021-03-19 18:50:51"	""	""	"SEQ-NG"	"DNA"	""	"64-gene panel"
"0000365101"	"00363873"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000373879"	"00372647"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373930"	"00372698"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000374721"	"00373486"	"1"	"00000"	"00006"	"2021-05-14 16:56:19"	""	""	"SEQ-NG"	"DNA"	""	"73-gene panel"
"0000375044"	"00373812"	"1"	"00000"	"00006"	"2021-05-21 12:20:36"	""	""	"arraySEQ"	"DNA"	""	"Asper"
"0000378596"	"00377393"	"1"	"00000"	"03840"	"2021-07-22 14:34:00"	""	""	"?"	"DNA"	""	"various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES"
"0000378597"	"00377394"	"1"	"00000"	"03840"	"2021-07-22 14:34:00"	""	""	"?"	"DNA"	""	"various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES"
"0000378598"	"00377395"	"1"	"00000"	"03840"	"2021-07-22 14:34:00"	""	""	"?"	"DNA"	""	"various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES"
"0000379022"	"00377818"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PE"	"DNA"	"blood"	""
"0000379147"	"00377943"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"SEQ; SEQ-NG-S"	"DNA"	"blood"	""
"0000381460"	"00380246"	"1"	"00000"	"00008"	"2021-08-13 14:56:11"	""	""	"PCR"	"DNA"	"blood"	""
"0000381461"	"00380247"	"1"	"00000"	"00008"	"2021-08-13 14:56:11"	""	""	"PCR"	"DNA"	"blood"	""
"0000384295"	"00383071"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384300"	"00383076"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384301"	"00383077"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384303"	"00383079"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384310"	"00383086"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000384323"	"00383099"	"1"	"00000"	"00008"	"2021-09-23 02:25:49"	""	""	"SEQ"	"DNA"	"blood"	""
"0000385549"	"00384324"	"1"	"00000"	"03840"	"2021-09-29 13:19:55"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 126 genes"
"0000386403"	"00385174"	"1"	"00000"	"03840"	"2021-10-08 17:29:22"	""	""	"SEQ-NG-I"	"DNA"	""	"105 genes panel"
"0000387422"	"00386193"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387423"	"00386194"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387493"	"00386264"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387831"	"00386603"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000387997"	"00386769"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000388206"	"00386980"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000390747"	"00389504"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET2 targeted sequencing panel - see paper"
"0000390799"	"00389556"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390800"	"00389557"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET7 targeted sequencing panel - see paper"
"0000390801"	"00389558"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390802"	"00389559"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000391216"	"00389973"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET9 targeted sequencing panel - see paper"
"0000391999"	"00390758"	"1"	"00000"	"00008"	"2021-11-11 21:56:08"	""	""	"arraySEQ"	"DNA"	"Blood"	""
"0000395730"	"00394483"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000395731"	"00394484"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000397100"	"00395861"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000397164"	"00395925"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000408529"	"00407281"	"1"	"00000"	"00008"	"2022-04-06 13:32:24"	""	""	"SEQ"	"DNA"	""	""
"0000410789"	"00409525"	"1"	"00000"	"03840"	"2022-05-10 09:55:10"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000410790"	"00409526"	"1"	"00000"	"03840"	"2022-05-10 09:55:10"	""	""	"SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000410791"	"00409527"	"1"	"00000"	"03840"	"2022-05-10 09:55:10"	""	""	"SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000410792"	"00409528"	"1"	"00000"	"03840"	"2022-05-10 09:55:10"	""	""	"SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000410793"	"00409529"	"1"	"00000"	"03840"	"2022-05-10 09:55:10"	""	""	"SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000410794"	"00409530"	"1"	"00000"	"03840"	"2022-05-10 09:55:10"	""	""	"SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000410795"	"00409531"	"1"	"00000"	"03840"	"2022-05-10 09:55:10"	""	""	"SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000410796"	"00409532"	"1"	"00000"	"03840"	"2022-05-10 09:55:10"	""	""	"SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000410797"	"00409533"	"1"	"00000"	"03840"	"2022-05-10 09:55:10"	""	""	"SEQ"	"DNA"	"blood"	"targeted next generation sequencing"
"0000421799"	"00420490"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000421861"	"00420552"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000422094"	"00420783"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422095"	"00420784"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422096"	"00420785"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422097"	"00420786"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422098"	"00420787"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422099"	"00420788"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000422100"	"00420789"	"1"	"00000"	"03840"	"2022-11-02 18:49:45"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"exome sequencing"
"0000428061"	"00426741"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000428062"	"00426742"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000428063"	"00426743"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000428064"	"00426744"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000428065"	"00426745"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"DHPLC;SEQ"	"DNA"	""	""
"0000428066"	"00426746"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428067"	"00426747"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428068"	"00426748"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428069"	"00426749"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428070"	"00426750"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428071"	"00426751"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428072"	"00426752"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428073"	"00426753"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428074"	"00426754"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428075"	"00426755"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428076"	"00426756"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428077"	"00426757"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ"	"DNA"	""	""
"0000428078"	"00426758"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000428079"	"00426759"	"1"	"00000"	"00008"	"2022-12-02 14:17:29"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000431063"	"00429650"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000437939"	"00436455"	"1"	"04552"	"04552"	"2023-09-17 04:21:00"	""	""	"SEQ-NG-I"	"DNA"	"BUCCAL SWAB"	""
"0000449006"	"00447429"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449068"	"00447491"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449202"	"00447625"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 87
"{{screeningid}}"	"{{geneid}}"
"0000052897"	"RPE65"
"0000233077"	"PRPF3"
"0000233078"	"PRPF3"
"0000233079"	"PRPF3"
"0000233080"	"PRPF3"
"0000310452"	"PRPF3"
"0000321199"	"PRPF3"
"0000334732"	"PRPF3"
"0000334814"	"PRPF3"
"0000336874"	"PRPF3"
"0000336875"	"PRPF3"
"0000337178"	"PRPF3"
"0000365101"	"PRPF3"
"0000374721"	"PRPF3"
"0000375044"	"PRPF3"
"0000378596"	"PRPF3"
"0000378597"	"PRPF3"
"0000378598"	"PRPF3"
"0000379022"	"PDE6A"
"0000379147"	"PRPF3"
"0000381460"	"PRPF3"
"0000381461"	"PRPF3"
"0000384295"	"PRPF3"
"0000384300"	"PRPF3"
"0000384301"	"PRPF3"
"0000384303"	"PRPF3"
"0000384310"	"ROM1"
"0000384323"	"PRPF3"
"0000385549"	"PRPF3"
"0000386403"	"PRPF3"
"0000387422"	"PRPF3"
"0000387423"	"PRPF3"
"0000387493"	"BEST1"
"0000387831"	"PRPF3"
"0000387997"	"PRPF3"
"0000388206"	"PRPF3"
"0000390747"	"PRPF3"
"0000390799"	"PRPF3"
"0000390800"	"PRPF3"
"0000390801"	"PRPF3"
"0000390802"	"PRPF3"
"0000391216"	"PRPF3"
"0000391999"	"PRPF3"
"0000395730"	"PRPF3"
"0000395731"	"PRPF3"
"0000397100"	"PRPF3"
"0000397164"	"PRPF3"
"0000408529"	"PRPF3"
"0000410789"	"PRPF3"
"0000410790"	"PRPF3"
"0000410791"	"PRPF3"
"0000410792"	"PRPF3"
"0000410793"	"PRPF3"
"0000410794"	"PRPF3"
"0000410795"	"PRPF3"
"0000410796"	"PRPF3"
"0000410797"	"PRPF3"
"0000421799"	"PRPF3"
"0000421861"	"PRPF3"
"0000422094"	"PRPF3"
"0000422095"	"PRPF3"
"0000422096"	"PRPF3"
"0000422097"	"PRPF3"
"0000422098"	"PRPF3"
"0000422099"	"PRPF3"
"0000422100"	"PRPF3"
"0000428061"	"PRPF3"
"0000428062"	"PRPF3"
"0000428063"	"PRPF3"
"0000428064"	"PRPF3"
"0000428065"	"PRPF3"
"0000428066"	"PRPF3"
"0000428067"	"PRPF3"
"0000428068"	"PRPF3"
"0000428069"	"PRPF3"
"0000428070"	"PRPF3"
"0000428071"	"PRPF3"
"0000428072"	"PRPF3"
"0000428073"	"PRPF3"
"0000428074"	"PRPF3"
"0000428075"	"PRPF3"
"0000428076"	"PRPF3"
"0000428077"	"PRPF3"
"0000428078"	"PRPF3"
"0000428079"	"PRPF3"
"0000431063"	"PRPF3"
"0000437939"	"PRPF3"


## 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 = 121
"{{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}}"
"0000255181"	"0"	"30"	"1"	"150297351"	"150297351"	"del"	"2.32258E-5"	"01943"	"PRPF3_000014"	"g.150297351del"	""	""	""	"PRPF3(NM_004698.3):c.-48-2delA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150324893del"	""	"likely benign"	""
"0000294458"	"0"	"10"	"1"	"150297350"	"150297350"	"del"	"0"	"02330"	"PRPF3_000011"	"g.150297350del"	""	""	""	"PRPF3(NM_004698.4):c.-48-3delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150324892del"	""	"benign"	""
"0000294462"	"0"	"10"	"1"	"150297348"	"150297350"	"del"	"0"	"02330"	"PRPF3_000009"	"g.150297348_150297350del"	""	""	""	"PRPF3(NM_004698.4):c.-48-5_-48-3delTTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150324890_150324892del"	""	"benign"	""
"0000294463"	"0"	"10"	"1"	"150297349"	"150297350"	"del"	"0"	"02330"	"PRPF3_000008"	"g.150297349_150297350del"	""	""	""	"PRPF3(NM_004698.4):c.-48-4_-48-3delTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150324891_150324892del"	""	"benign"	""
"0000294470"	"0"	"10"	"1"	"150316751"	"150316751"	"subst"	"2.43728E-5"	"02330"	"PRPF3_000016"	"g.150316751G>T"	""	""	""	"PRPF3(NM_004698.4):c.1526+14G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150344275G>T"	""	"benign"	""
"0000306456"	"0"	"50"	"1"	"150310712"	"150310712"	"subst"	"0"	"01943"	"PRPF3_000015"	"g.150310712C>T"	""	""	""	"PRPF3(NM_004698.3):c.1112C>T (p.A371V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150338236C>T"	""	"VUS"	""
"0000306457"	"0"	"50"	"1"	"150325405"	"150325405"	"subst"	"1.21817E-5"	"01943"	"PRPF3_000017"	"g.150325405C>T"	""	""	""	"PRPF3(NM_004698.3):c.2002C>T (p.H668Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150352929C>T"	""	"VUS"	""
"0000341481"	"0"	"50"	"1"	"150316912"	"150316912"	"subst"	"8.12374E-6"	"02327"	"PRPF3_000020"	"g.150316912C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150344436C>T"	""	"VUS"	""
"0000349426"	"0"	"50"	"1"	"150297486"	"150297486"	"subst"	"4.06088E-6"	"02327"	"PRPF3_000018"	"g.150297486C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150325028C>T"	""	"VUS"	""
"0000349539"	"0"	"90"	"1"	"150316692"	"150316692"	"subst"	"0"	"02327"	"PRPF3_000019"	"g.150316692C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.150344216C>T"	""	"pathogenic"	""
"0000475785"	"0"	"90"	"1"	"150315783"	"150315783"	"subst"	"0"	"02591"	"PRPF3_000021"	"g.150315783A>G"	"1/1203 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.150343307A>G"	""	"pathogenic"	""
"0000475786"	"0"	"50"	"1"	"150315909"	"150315909"	"subst"	"0.000121845"	"02591"	"PRPF3_000022"	"g.150315909G>A"	"1/1203 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs587594838"	"0"	""	""	"g.150343433G>A"	""	"VUS"	""
"0000475787"	"0"	"50"	"1"	"150316688"	"150316688"	"subst"	"0"	"02591"	"PRPF3_000023"	"g.150316688C>G"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.150344212C>G"	""	"VUS"	""
"0000475788"	"0"	"50"	"1"	"150321686"	"150321686"	"subst"	"0.000292417"	"02591"	"PRPF3_000024"	"g.150321686G>C"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs141881079"	"0"	""	""	"g.150349210G>C"	""	"VUS"	""
"0000503069"	"0"	"30"	"1"	"150307457"	"150307457"	"subst"	"0.000312784"	"01943"	"PRPF3_000025"	"g.150307457G>A"	""	""	""	"PRPF3(NM_001350529.1):c.375G>A (p.E125=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150334986G>A"	""	"likely benign"	""
"0000503070"	"0"	"30"	"1"	"150307701"	"150307701"	"subst"	"0"	"01943"	"PRPF3_000026"	"g.150307701T>C"	""	""	""	"PRPF3(NM_004698.3):c.1024T>C (p.L342=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150335230T>C"	""	"likely benign"	""
"0000503071"	"0"	"10"	"1"	"150310701"	"150310701"	"subst"	"8.12684E-6"	"02330"	"PRPF3_000027"	"g.150310701G>A"	""	""	""	"PRPF3(NM_004698.4):c.1101G>A (p.S367=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150338225G>A"	""	"benign"	""
"0000503072"	"0"	"30"	"1"	"150321686"	"150321686"	"subst"	"0.000292417"	"02330"	"PRPF3_000024"	"g.150321686G>C"	""	""	""	"PRPF3(NM_004698.4):c.1897G>C (p.V633L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150349210G>C"	""	"likely benign"	""
"0000503073"	"0"	"30"	"1"	"150325473"	"150325473"	"subst"	"0"	"02330"	"PRPF3_000028"	"g.150325473G>T"	""	""	""	"PRPF3(NM_004698.4):c.*18G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150352997G>T"	""	"likely benign"	""
"0000604778"	"0"	"50"	"1"	"150310795"	"150310795"	"subst"	"8.12321E-6"	"01943"	"PRPF3_000029"	"g.150310795T>A"	""	""	""	"PRPF3(NM_004698.3):c.1195T>A (p.F399I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150338319T>A"	""	"VUS"	""
"0000604779"	"0"	"50"	"1"	"150316921"	"150316921"	"subst"	"0"	"01943"	"PRPF3_000030"	"g.150316921A>G"	""	""	""	"PRPF3(NM_001350529.1):c.1133A>G (p.E378G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150344445A>G"	""	"VUS"	""
"0000653654"	"0"	"50"	"1"	"150298191"	"150298191"	"subst"	"0"	"02330"	"PRPF3_000031"	"g.150298191C>T"	""	""	""	"PRPF3(NM_001350529.1):c.-356-18C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150325733C>T"	""	"VUS"	""
"0000653655"	"0"	"30"	"1"	"150307634"	"150307634"	"subst"	"5.28065E-5"	"01943"	"PRPF3_000032"	"g.150307634T>C"	""	""	""	"PRPF3(NM_001350529.1):c.552T>C (p.P184=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.150335163T>C"	""	"likely benign"	""
"0000685363"	"0"	"90"	"1"	"150316692"	"150316692"	"subst"	"0"	"00004"	"PRPF3_000019"	"g.150316692C>T"	"2/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000704005"	"2"	"90"	"1"	"150316692"	"150316692"	"subst"	"0"	"00008"	"PRPF3_000019"	"g.150316692C>T"	""	"{PMID:Martínez-Gimeno 2003:12714658}"	""	"1482C>T /  T494M"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000716788"	"0"	"30"	"1"	"150325388"	"150325388"	"subst"	"2.03028E-5"	"01943"	"PRPF3_000033"	"g.150325388A>G"	""	""	""	"PRPF3(NM_001350529.1):c.1580A>G (p.K527R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000732739"	"0"	"70"	"1"	"150316692"	"150316692"	"subst"	"0"	"00000"	"PRPF3_000019"	"g.150316692C>T"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.150344216C>T"	""	"likely pathogenic"	""
"0000732821"	"0"	"70"	"1"	"150316692"	"150316692"	"subst"	"0"	"00000"	"PRPF3_000019"	"g.150316692C>T"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.150344216C>T"	""	"likely pathogenic"	""
"0000736412"	"1"	"90"	"1"	"150316688"	"150316688"	"subst"	"0"	"00008"	"PRPF3_000034"	"g.150316688C>T"	""	"{PMID:Sullivan 2006:16799052}"	""	"1477C>T"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000736413"	"1"	"90"	"1"	"150316692"	"150316692"	"subst"	"0"	"00008"	"PRPF3_000019"	"g.150316692C>T"	""	"{PMID:Sullivan 2006:16799052}"	""	"1481C>T"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000736802"	"1"	"70"	"1"	"150316691"	"150316691"	"subst"	"0"	"00000"	"PRPF3_000035"	"g.150316691A>G"	""	"{PMID:Roberts 2016:27898983}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.150344215A>G"	""	"likely pathogenic (dominant)"	"ACMG"
"0000760665"	"1"	"90"	"1"	"150315739"	"150315742"	"del"	"0"	"00000"	"PRPF3_000036"	"g.150315739_150315742del"	""	"{PMID:Bravo-Gil 2016:27032803}"	""	"1283-60_1283-57delATAT"	""	"Germline"	""	""	"0"	""	""	"g.150343263_150343266del"	""	"pathogenic"	""
"0000766056"	"1"	"90"	"1"	"150316692"	"150316692"	"subst"	"0"	"00004"	"PRPF3_000019"	"g.150316692C>T"	"2/2420 IRD families"	"{PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000784192"	"0"	"90"	"1"	"150316692"	"150316692"	"subst"	"0"	"00000"	"PRPF3_000019"	"g.150316692C>T"	""	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.150344216C>T"	""	"pathogenic (dominant)"	""
"0000784547"	"0"	"50"	"1"	"150321700"	"150321700"	"subst"	"3.24939E-5"	"00000"	"PRPF3_000037"	"g.150321700T>G"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.150349224T>G"	""	"VUS"	""
"0000785544"	"0"	"30"	"1"	"150325325"	"150325325"	"subst"	"0"	"00000"	"PRPF3_000038"	"g.150325325G>A"	""	"{PMID:Fernandez-San Jose 2015:25698705}"	""	""	""	"Germline"	""	"rs201590000"	"0"	""	""	"g.150352849G>A"	""	"likely benign"	""
"0000786305"	"1"	"90"	"1"	"150316692"	"150316692"	"subst"	"0"	"00000"	"PRPF3_000019"	"g.150316692C>T"	""	"{PMID:Méndez-Vidal 2014:25494902}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.150344216C>T"	""	"pathogenic"	""
"0000790647"	"0"	"50"	"1"	"150307403"	"150307403"	"subst"	"0"	"00000"	"PRPF3_000039"	"g.150307403C>T"	""	"{PMID:Wang 2014:25097241}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.150334932C>T"	""	"VUS"	""
"0000791445"	"0"	"70"	"1"	"150316692"	"150316692"	"subst"	"0"	"00000"	"PRPF3_000019"	"g.150316692C>T"	"3/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.150344216C>T"	""	"likely pathogenic"	""
"0000791446"	"0"	"70"	"1"	"150316692"	"150316692"	"subst"	"0"	"00000"	"PRPF3_000019"	"g.150316692C>T"	"3/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.150344216C>T"	""	"likely pathogenic"	""
"0000791447"	"0"	"70"	"1"	"150316692"	"150316692"	"subst"	"0"	"00000"	"PRPF3_000019"	"g.150316692C>T"	"3/258"	"{PMID:Martin-Merida 2018:29847639}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.150344216C>T"	""	"likely pathogenic"	""
"0000792043"	"0"	"50"	"1"	"150316677"	"150316677"	"subst"	"0"	"00000"	"PRPF3_000040"	"g.150316677A>C"	""	"{PMID:Gamundi 2008:18412284}"	""	"c.1466A>C,Ala489Asp"	""	"In vitro (cloned)"	""	""	"0"	""	""	""	""	"NA"	""
"0000792233"	"3"	"50"	"1"	"150316692"	"150316692"	"subst"	"0"	"00000"	"PRPF3_000019"	"g.150316692C>T"	""	"{PMID:Tanackovic 2011:21378395}"	""	"p.T494M"	""	"In vitro (cloned)"	""	""	"0"	""	""	""	""	"NA"	""
"0000792234"	"3"	"50"	"1"	"150316688"	"150316688"	"subst"	"0"	"00000"	"PRPF3_000034"	"g.150316688C>T"	""	"{PMID:Tanackovic 2011:21378395}"	""	"p.P493S"	""	"In vitro (cloned)"	""	""	"0"	""	""	""	""	"NA"	""
"0000792235"	"3"	"50"	"1"	"150316692"	"150316692"	"subst"	"0"	"00000"	"PRPF3_000019"	"g.150316692C>T"	""	"{PMID:Tanackovic 2011:21378395}"	""	"p.T494M"	""	"In vitro (cloned)"	""	""	"0"	""	""	""	""	"NA"	""
"0000792244"	"0"	"90"	"1"	"150316692"	"150316692"	"subst"	"0"	"00000"	"PRPF3_000019"	"g.150316692C>T"	""	"{PMID:_Audo-2012:22277662}"	""	"c.1481C>T"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000794920"	"0"	"70"	"1"	"150316692"	"150316692"	"subst"	"0"	"00000"	"PRPF3_000019"	"g.150316692C>T"	"1/336 cases; 0/360 controls"	"{PMID:Kim-2012:23049240}"	""	"c.1481C>T"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000794921"	"0"	"70"	"1"	"150316692"	"150316692"	"subst"	"0"	"00000"	"PRPF3_000019"	"g.150316692C>T"	"1/336 cases; 0/360 controls"	"{PMID:Kim-2012:23049240}"	""	"c.1481C>T"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000810878"	"0"	"30"	"1"	"150351288"	"150351288"	"subst"	"0"	"00000"	"PRPF3_000043"	"g.150351288T>C"	""	"{PMID:Anasagasti-2013:24416769}"	""	"c.2877+25008T>C"	""	"Germline"	"yes"	"rs150312839"	"0"	""	""	""	""	"likely benign (dominant)"	""
"0000810890"	"0"	"10"	"1"	"150316774"	"150316774"	"subst"	"7.73187E-5"	"00000"	"PRPF3_000064"	"g.150316774G>C"	""	"{PMID:Anasagasti-2013:24416769}"	""	"g.150316774G>C"	""	"Germline"	"yes"	""	"0"	""	""	"g.150344298G>C"	""	"likely benign (dominant)"	""
"0000810892"	"0"	"30"	"1"	"0"	"0"	""	""	"00000"	"PRPF3_000040"	"g.?"	""	"{PMID:Anasagasti-2013:24416769}"	""	"g.150325383A>G"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely benign (dominant)"	""
"0000810895"	"0"	"30"	"1"	"0"	"0"	""	""	"00000"	"PRPF3_000040"	"g.?"	""	"{PMID:Anasagasti-2013:24416769}"	""	"g.150325383A>G"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely benign (dominant)"	""
"0000810915"	"0"	"10"	"1"	"150318872"	"150318872"	"subst"	"0.00516779"	"00000"	"PRPF3_000041"	"g.150318872C>T"	""	"{PMID:Anasagasti-2013:24416769}"	""	"c.1760-12C>T"	""	"Germline"	"yes"	"rs116427288"	"0"	""	""	""	""	"likely benign (dominant)"	""
"0000810916"	"0"	"30"	"1"	"150325497"	"150325497"	"subst"	"0.00518202"	"00000"	"PRPF3_000042"	"g.150325497C>T"	""	"{PMID:Anasagasti-2013:24416769}"	""	"c.*42C>T"	""	"Germline"	"yes"	"rs77626125"	"0"	""	""	""	""	"likely benign (dominant)"	""
"0000810932"	"0"	"30"	"1"	"0"	"0"	""	""	"00000"	"PRPF3_000040"	"g.?"	""	"{PMID:Anasagasti-2013:24416769}"	""	"g.150325252->T"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely benign (dominant)"	""
"0000812630"	"0"	"70"	"1"	"150307653"	"150307653"	"subst"	"9.75253E-5"	"00000"	"PRPF3_000044"	"g.150307653A>G"	""	"{PMID:Wang 2019:31106028}"	""	"c.976A>G , p.(Thr326Ala)"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.150335182A>G"	""	"likely pathogenic"	""
"0000813900"	"0"	"70"	"1"	"150315787"	"150315787"	"subst"	"0"	"00000"	"PRPF3_000045"	"g.150315787G>T"	""	"{PMID:Jiman 2020:31836858}"	""	"PRPF3;NM_004698.2;c.[1285G>T];[1285=];p.[(Asp429Tyr)];[(Asp429=)]"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.150343311G>T"	""	"likely pathogenic"	""
"0000815306"	"0"	"90"	"1"	"150316688"	"150316688"	"subst"	"0"	"00000"	"PRPF3_000034"	"g.150316688C>T"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"PRPF3:NM_004698 c.C1477T, p.P493S"	"heterozygous, individual solved, variant causal"	"Germline"	"yes"	""	"0"	""	""	"g.150344212C>T"	""	"pathogenic"	"ACMG"
"0000815307"	"0"	"90"	"1"	"150316688"	"150316688"	"subst"	"0"	"00000"	"PRPF3_000034"	"g.150316688C>T"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"c.1477C>T; p.(Pro493Ser)"	"heterozygous, individual solved, variant causal"	"Germline"	"yes"	""	"0"	""	""	"g.150344212C>T"	""	"pathogenic"	"ACMG"
"0000815527"	"0"	"50"	"1"	"150307507"	"150307507"	"subst"	"4.06408E-6"	"00000"	"PRPF3_000046"	"g.150307507G>A"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"PRPF3:NM_004698 c.G830A, p.R277H"	"heterozygous, individual solved, variant non-causal"	"Germline"	"?"	""	"0"	""	""	"g.150335036G>A"	""	"VUS"	"ACMG"
"0000815989"	"0"	"90"	"1"	"150316692"	"150316692"	"subst"	"0"	"00000"	"PRPF3_000019"	"g.150316692C>T"	""	"{PMID:Zampaglione 2020:32037395}"	""	"PRPF3 c.1481C>T, p.Thr494Met"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.150344216C>T"	""	"pathogenic"	""
"0000816155"	"0"	"50"	"1"	"150315928"	"150315928"	"subst"	"0"	"00000"	"PRPF3_000048"	"g.150315928G>A"	""	"{PMID:Zampaglione 2020:32037395}"	""	"PRPF3 c.1426G>A, p.Val476Met"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.150343452G>A"	""	"VUS"	""
"0000816665"	"0"	"70"	"1"	"150307684"	"150307684"	"subst"	"0"	"00000"	"PRPF3_000047"	"g.150307684A>G"	""	"{PMID:Jauregui 2020:32098976}"	""	"PRPF3 c.1007A>G, p.E336G"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.150335213A>G"	""	"likely pathogenic"	""
"0000820092"	"1"	"70"	"1"	"150316692"	"150316692"	"subst"	"0"	"00000"	"PRPF3_000019"	"g.150316692C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF3, variant 1: c.1481C>T/p.T494M"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.150344216C>T"	""	"likely pathogenic"	""
"0000820144"	"1"	"70"	"1"	"150316707"	"150316707"	"subst"	"0"	"00000"	"PRPF3_000049"	"g.150316707A>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF3, variant 1: c.1496A>C/p.H499P"	"possibly solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.150344231A>C"	""	"likely pathogenic"	""
"0000820145"	"1"	"70"	"1"	"150316707"	"150316707"	"subst"	"0"	"00000"	"PRPF3_000049"	"g.150316707A>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF3, variant 1: c.1496A>C/p.H499P"	"possibly solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.150344231A>C"	""	"likely pathogenic"	""
"0000820146"	"1"	"70"	"1"	"150316707"	"150316707"	"subst"	"0"	"00000"	"PRPF3_000049"	"g.150316707A>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF3, variant 1: c.1496A>C/p.H499P"	"possibly solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.150344231A>C"	""	"likely pathogenic"	""
"0000820147"	"1"	"70"	"1"	"150316707"	"150316707"	"subst"	"0"	"00000"	"PRPF3_000049"	"g.150316707A>C"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF3, variant 1: c.1496A>C/p.H499P"	"possibly solved, heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.150344231A>C"	""	"likely pathogenic"	""
"0000820561"	"1"	"70"	"1"	"150315783"	"150315783"	"subst"	"0"	"00000"	"PRPF3_000021"	"g.150315783A>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"PRPF3, variant 1: c.1283-2A>G/p.?"	"solved, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.150343307A>G"	""	"likely pathogenic"	""
"0000822118"	"0"	"70"	"1"	"150316688"	"150316688"	"subst"	"0"	"00000"	"PRPF3_000034"	"g.150316688C>T"	""	"{PMID:Booij-2011:20801516}"	""	"c.1477C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000827132"	"0"	"90"	"1"	"150316688"	"150316688"	"subst"	"0"	"00000"	"PRPF3_000034"	"g.150316688C>T"	""	"{PMID:Colombo-2020:33576794}"	""	"c.1477C>T"	""	"Germline"	"yes"	"rs121434242"	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000827133"	"0"	"90"	"1"	"150316688"	"150316688"	"subst"	"0"	"00000"	"PRPF3_000034"	"g.150316688C>T"	""	"{PMID:Colombo-2020:33576794}"	""	"c.1477C>T"	""	"Germline"	"yes"	"rs121434242"	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000828846"	"0"	"70"	"1"	"150294043"	"150294043"	"subst"	"0"	"00000"	"PRPF3_000050"	"g.150294043T>C"	""	"{PMID:Chen 2021:43360855}"	""	"PRPF3 c.[-49+2T>C];[-49+2=], V1: c.-49+2T>C,"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.150321594T>C"	""	"likely pathogenic"	"ACMG"
"0000828910"	"0"	"70"	"1"	"150294043"	"150294043"	"subst"	"0"	"00000"	"PRPF3_000050"	"g.150294043T>C"	""	"{PMID:Chen 2021:43360855}"	""	"PRPF3 c.[-49+2T>C];[-49+2=], V1: c.-49+2T>C,"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.150321594T>C"	""	"likely pathogenic"	"ACMG"
"0000845430"	"0"	"70"	"1"	"0"	"0"	""	"0"	"00000"	"NPHS2_000000"	"g.?"	""	"{PMID:Wada 2005:15851576}"	""	"HPRP3: Thr494Met"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000856962"	"0"	"30"	"1"	"150316620"	"150316620"	"subst"	"4.0624E-6"	"02330"	"PRPF3_000051"	"g.150316620G>T"	""	""	""	"PRPF3(NM_001350529.1):c.1022-18G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000867661"	"10"	"70"	"1"	"150316692"	"150316692"	"subst"	"0"	"00000"	"PRPF3_000001"	"g.150316692C>G"	""	"{PMID:Meng 2017:28848678}"	""	"PRPF3 c.1481C>G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.150344216C>G"	""	"likely pathogenic"	""
"0000867662"	"10"	"70"	"4"	"150316692"	"150316692"	"subst"	"0"	"00000"	"PRPF3_000001"	"g.150316692C>G"	""	"{PMID:Meng 2017:28848678}"	""	"PRPF3 c.1481C>G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.150344216C>G"	""	"likely pathogenic"	""
"0000867663"	"10"	"70"	"4"	"150316692"	"150316692"	"subst"	"0"	"00000"	"PRPF3_000001"	"g.150316692C>G"	""	"{PMID:Meng 2017:28848678}"	""	"PRPF3 c.1481C>G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.150344216C>G"	""	"likely pathogenic"	""
"0000867664"	"11"	"70"	"4"	"150316692"	"150316692"	"subst"	"0"	"00000"	"PRPF3_000001"	"g.150316692C>G"	""	"{PMID:Meng 2017:28848678}"	""	"PRPF3 c.1481C>G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.150344216C>G"	""	"likely pathogenic"	""
"0000867665"	"11"	"70"	"4"	"150316692"	"150316692"	"subst"	"0"	"00000"	"PRPF3_000001"	"g.150316692C>G"	""	"{PMID:Meng 2017:28848678}"	""	"PRPF3 c.1481C>G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.150344216C>G"	""	"likely pathogenic"	""
"0000867666"	"10"	"70"	"4"	"150316692"	"150316692"	"subst"	"0"	"00000"	"PRPF3_000001"	"g.150316692C>G"	""	"{PMID:Meng 2017:28848678}"	""	"PRPF3 c.1481C>G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.150344216C>G"	""	"likely pathogenic"	""
"0000867667"	"11"	"70"	"4"	"150316692"	"150316692"	"subst"	"0"	"00000"	"PRPF3_000001"	"g.150316692C>G"	""	"{PMID:Meng 2017:28848678}"	""	"PRPF3 c.1481C>G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.150344216C>G"	""	"likely pathogenic"	""
"0000867668"	"21"	"70"	"4"	"150316692"	"150316692"	"subst"	"0"	"00000"	"PRPF3_000001"	"g.150316692C>G"	""	"{PMID:Meng 2017:28848678}"	""	"PRPF3 c.1481C>G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.150344216C>G"	""	"likely pathogenic"	""
"0000867669"	"21"	"70"	"4"	"150316692"	"150316692"	"subst"	"0"	"00000"	"PRPF3_000001"	"g.150316692C>G"	""	"{PMID:Meng 2017:28848678}"	""	"PRPF3 c.1481C>G"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.150344216C>G"	""	"likely pathogenic"	""
"0000882758"	"0"	"70"	"1"	"150316688"	"150316688"	"subst"	"0"	"02330"	"PRPF3_000034"	"g.150316688C>T"	""	""	""	"PRPF3(NM_001350529.1):c.1072C>T (p.P358S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000896599"	"1"	"70"	"1"	"150294043"	"150294043"	"subst"	"0"	"00000"	"PRPF3_000050"	"g.150294043T>C"	"Taiwan Biobank: 0; GnomAD_exome_East: 0.000643 (genome); GnomAD_All: 0.000032"	"{PMID:Chen 2021:33608557}"	""	"PRPF3 c.[-49+2T>C];[-49+2=]; p.?"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.150321594T>C"	""	"likely pathogenic"	""
"0000896682"	"1"	"70"	"1"	"150294043"	"150294043"	"subst"	"0"	"00000"	"PRPF3_000050"	"g.150294043T>C"	"Taiwan Biobank: 0; GnomAD_exome_East: 0.000643 (genome); GnomAD_All: 0.000032"	"{PMID:Chen 2021:33608557}"	""	"PRPF3 c.[-49+2T>C];[-49+2=]; p.?"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.150321594T>C"	""	"likely pathogenic"	""
"0000896983"	"0"	"70"	"1"	"150316646"	"150316646"	"subst"	"0"	"00000"	"PRPF3_000053"	"g.150316646T>A"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF3 c.1435 T > A, p.(S479T)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.150344170T>A"	""	"likely pathogenic"	"ACMG"
"0000896984"	"10"	"90"	"1"	"150316692"	"150316692"	"subst"	"0"	"00000"	"PRPF3_000019"	"g.150316692C>T"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF3 c.1481C > T, p.(T494M)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.150344216C>T"	""	"pathogenic"	"ACMG"
"0000896985"	"20"	"90"	"1"	"150316692"	"150316692"	"subst"	"0"	"00000"	"PRPF3_000019"	"g.150316692C>T"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF3 c.1481C > T, p.(T494M)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.150344216C>T"	""	"pathogenic"	"ACMG"
"0000896986"	"0"	"90"	"1"	"150316692"	"150316692"	"subst"	"0"	"00000"	"PRPF3_000019"	"g.150316692C>T"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF3 c.1481C > T, p.(T494M)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.150344216C>T"	""	"pathogenic"	"ACMG"
"0000896987"	"0"	"70"	"1"	"150325421"	"150325421"	"subst"	"0"	"00000"	"PRPF3_000054"	"g.150325421C>T"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF3 c.2018C > T, p.(A673V)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.150352945C>T"	""	"likely pathogenic"	"ACMG"
"0000896988"	"0"	"70"	"1"	"150315929"	"150315929"	"subst"	"0"	"00000"	"PRPF3_000052"	"g.150315929G>A"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF3 c.1426 + 1G > A, p.?"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.150343453G>A"	""	"likely pathogenic"	"ACMG"
"0000896989"	"21"	"70"	"1"	"150315929"	"150315929"	"subst"	"0"	"00000"	"PRPF3_000052"	"g.150315929G>A"	""	"{PMID:Wang 2022:35138024}"	""	"PRPF3 c.1426 + 1G > A, p.?"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.150343453G>A"	""	"likely pathogenic"	"ACMG"
"0000905684"	"0"	"90"	"1"	"150316693"	"150316693"	"subst"	"0"	"00000"	"PRPF3_000057"	"g.150316693C>T"	""	"{PMID:Chakarova 2002:11773002}"	""	"HPRP3:Thr494Met (1482C>T)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905685"	"0"	"90"	"1"	"150316689"	"150316689"	"subst"	"0"	"00000"	"PRPF3_000056"	"g.150316689C>T"	""	"{PMID:Chakarova 2002:11773002}"	""	"HPRP3:Pro493Ser (1478C>T)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905686"	"0"	"90"	"1"	"150316693"	"150316693"	"subst"	"0"	"00000"	"PRPF3_000057"	"g.150316693C>T"	""	"{PMID:Chakarova 2002:11773002}"	""	"HPRP3:Thr494Met (1482C>T)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905687"	"0"	"90"	"1"	"150316689"	"150316689"	"subst"	"0"	"00000"	"PRPF3_000056"	"g.150316689C>T"	""	"{PMID:Chakarova 2002:11773002}"	""	"HPRP3:Pro493Ser (1478C>T)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000905688"	"0"	"90"	"1"	"150316689"	"150316689"	"subst"	"0"	"00000"	"PRPF3_000056"	"g.150316689C>T"	""	"{PMID:Chakarova 2002:11773002}"	""	"HPRP3:Pro493Ser (1478C>T)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000905689"	"0"	"90"	"1"	"150316693"	"150316693"	"subst"	"0"	"00000"	"PRPF3_000057"	"g.150316693C>T"	""	"{PMID:Wada 2004:15085354}"	""	"HPRP3:Thr494Met"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905690"	"0"	"90"	"1"	"150316693"	"150316693"	"subst"	"0"	"00000"	"PRPF3_000057"	"g.150316693C>T"	""	"{PMID:Wada 2004:15085354}"	""	"HPRP3:Thr494Met"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905691"	"0"	"90"	"1"	"150316693"	"150316693"	"subst"	"0"	"00000"	"PRPF3_000057"	"g.150316693C>T"	""	"{PMID:Wada 2004:15085354}"	""	"HPRP3:Thr494Met"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905692"	"0"	"90"	"1"	"150316693"	"150316693"	"subst"	"0"	"00000"	"PRPF3_000057"	"g.150316693C>T"	""	"{PMID:Vaclavik 2010:20309403}"	""	"T494M"	"0/96 controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905693"	"0"	"90"	"1"	"150316693"	"150316693"	"subst"	"0"	"00000"	"PRPF3_000057"	"g.150316693C>T"	""	"{PMID:Vaclavik 2010:20309403}"	""	"T494M"	"0/96 controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905694"	"0"	"90"	"1"	"150316693"	"150316693"	"subst"	"0"	"00000"	"PRPF3_000057"	"g.150316693C>T"	""	"{PMID:Vaclavik 2010:20309403}"	""	"T494M"	"0/96 controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905695"	"0"	"90"	"1"	"150316693"	"150316693"	"subst"	"0"	"00000"	"PRPF3_000057"	"g.150316693C>T"	""	"{PMID:Vaclavik 2010:20309403}"	""	"T494M"	"0/96 controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905696"	"0"	"90"	"1"	"150316693"	"150316693"	"subst"	"0"	"00000"	"PRPF3_000057"	"g.150316693C>T"	""	"{PMID:Vaclavik 2010:20309403}"	""	"T494M"	"0/96 controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905697"	"0"	"90"	"1"	"150316693"	"150316693"	"subst"	"0"	"00000"	"PRPF3_000057"	"g.150316693C>T"	""	"{PMID:Vaclavik 2010:20309403}"	""	"T494M"	"0/96 controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905698"	"0"	"90"	"1"	"150316693"	"150316693"	"subst"	"0"	"00000"	"PRPF3_000057"	"g.150316693C>T"	""	"{PMID:Vaclavik 2010:20309403}"	""	"T494M"	"0/96 controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905699"	"0"	"90"	"1"	"150316693"	"150316693"	"subst"	"0"	"00000"	"PRPF3_000057"	"g.150316693C>T"	""	"{PMID:Vaclavik 2010:20309403}"	""	"T494M"	"0/96 controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905700"	"0"	"90"	"1"	"150316693"	"150316693"	"subst"	"0"	"00000"	"PRPF3_000057"	"g.150316693C>T"	""	"{PMID:Vaclavik 2010:20309403}"	""	"T494M"	"0/96 controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905701"	"1"	"90"	"1"	"150315847"	"150315847"	"subst"	"0"	"00000"	"PRPF3_000055"	"g.150315847C>G"	""	"{PMID:Zhong 2016:27886254}"	""	"c.1345C > G (p.R449G)"	"0/200 unrelated ethnically matched healthy controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000905702"	"2"	"90"	"1"	"150316915"	"150316915"	"subst"	"0"	"00000"	"PRPF3_000058"	"g.150316915A>C"	""	"{PMID:Zhong 2016:27886254}"	""	"c.1532A > C (p.H511P)"	"0/200 unrelated ethnically matched healthy controls"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000910775"	"0"	"30"	"1"	"150316675"	"150316675"	"subst"	"0.000361471"	"02330"	"PRPF3_000060"	"g.150316675A>G"	""	""	""	"PRPF3(NM_001350529.1):c.1059A>G (p.E353=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000916014"	"0"	"70"	"1"	"150297351"	"150297351"	"dup"	"0"	"04436"	"PRPF3_000059"	"g.150297351dup"	""	"{PMID:Panneman 2023:36819107}"	""	"c.-48-2dup"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000928006"	"0"	"50"	"1"	"150305615"	"150305615"	"subst"	"0"	"02327"	"PRPF3_000061"	"g.150305615G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000933405"	"0"	"90"	"1"	"150316688"	"150316688"	"subst"	"0"	"04552"	"PRPF3_000034"	"g.150316688C>T"	""	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	""	""	"Germline"	"yes"	"rs121434242"	"0"	""	""	""	"{CV:1426645}"	"pathogenic"	"ACMG"
"0000958835"	"1"	"50"	"1"	"150316707"	"150316707"	"subst"	"0"	"00006"	"PRPF3_000049"	"g.150316707A>C"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2, PP2, PP5"	"Germline"	""	""	"0"	""	""	"g.150344231A>C"	""	"VUS"	"ACMG"
"0000958969"	"0"	"50"	"1"	"150315911"	"150315911"	"subst"	"4.06161E-6"	"00006"	"PRPF3_000063"	"g.150315911C>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2, PP2"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.150343435C>T"	""	"VUS"	"ACMG"
"0000959225"	"0"	"50"	"1"	"150315836"	"150315836"	"subst"	"4.06111E-6"	"00006"	"PRPF3_000062"	"g.150315836A>G"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PP2"	"Germline"	""	""	"0"	""	""	"g.150343360A>G"	""	"VUS"	"ACMG"


## 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 PRPF3
## Count = 121
"{{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}}"
"0000255181"	"00016895"	"30"	"-48"	"-2"	"-48"	"-2"	"c.-48-2del"	"r.spl?"	"p.?"	""
"0000294458"	"00016895"	"10"	"-48"	"-3"	"-48"	"-3"	"c.-48-3del"	"r.spl?"	"p.?"	""
"0000294462"	"00016895"	"10"	"-48"	"-5"	"-48"	"-3"	"c.-48-5_-48-3del"	"r.spl?"	"p.?"	""
"0000294463"	"00016895"	"10"	"-48"	"-4"	"-48"	"-3"	"c.-48-4_-48-3del"	"r.spl?"	"p.?"	""
"0000294470"	"00016895"	"10"	"1526"	"14"	"1526"	"14"	"c.1526+14G>T"	"r.(=)"	"p.(=)"	""
"0000306456"	"00016895"	"50"	"1112"	"0"	"1112"	"0"	"c.1112C>T"	"r.(?)"	"p.(Ala371Val)"	""
"0000306457"	"00016895"	"50"	"2002"	"0"	"2002"	"0"	"c.2002C>T"	"r.(?)"	"p.(His668Tyr)"	""
"0000341481"	"00016895"	"50"	"1529"	"0"	"1529"	"0"	"c.1529C>T"	"r.(?)"	"p.(Ala510Val)"	""
"0000349426"	"00016895"	"50"	"86"	"0"	"86"	"0"	"c.86C>T"	"r.(?)"	"p.(Thr29Met)"	""
"0000349539"	"00016895"	"90"	"1481"	"0"	"1481"	"0"	"c.1481C>T"	"r.(?)"	"p.(Thr494Met)"	""
"0000475785"	"00016895"	"90"	"1283"	"-2"	"1283"	"-2"	"c.1283-2A>G"	"r.spl?"	"p.?"	""
"0000475786"	"00016895"	"50"	"1407"	"0"	"1407"	"0"	"c.1407G>A"	"r.(?)"	"p.(Met469Ile)"	""
"0000475787"	"00016895"	"50"	"1477"	"0"	"1477"	"0"	"c.1477C>G"	"r.(?)"	"p.(Pro493Ala)"	""
"0000475788"	"00016895"	"50"	"1897"	"0"	"1897"	"0"	"c.1897G>C"	"r.(?)"	"p.(Val633Leu)"	""
"0000503069"	"00016895"	"30"	"780"	"0"	"780"	"0"	"c.780G>A"	"r.(?)"	"p.(Glu260=)"	""
"0000503070"	"00016895"	"30"	"1024"	"0"	"1024"	"0"	"c.1024T>C"	"r.(?)"	"p.(Leu342=)"	""
"0000503071"	"00016895"	"10"	"1101"	"0"	"1101"	"0"	"c.1101G>A"	"r.(?)"	"p.(Ser367=)"	""
"0000503072"	"00016895"	"30"	"1897"	"0"	"1897"	"0"	"c.1897G>C"	"r.(?)"	"p.(Val633Leu)"	""
"0000503073"	"00016895"	"30"	"2070"	"0"	"2070"	"0"	"c.*18G>T"	"r.(=)"	"p.(=)"	""
"0000604778"	"00016895"	"50"	"1195"	"0"	"1195"	"0"	"c.1195T>A"	"r.(?)"	"p.(Phe399Ile)"	""
"0000604779"	"00016895"	"50"	"1538"	"0"	"1538"	"0"	"c.1538A>G"	"r.(?)"	"p.(Glu513Gly)"	""
"0000653654"	"00016895"	"50"	"146"	"-18"	"146"	"-18"	"c.146-18C>T"	"r.(=)"	"p.(=)"	""
"0000653655"	"00016895"	"30"	"957"	"0"	"957"	"0"	"c.957T>C"	"r.(?)"	"p.(Pro319=)"	""
"0000685363"	"00016895"	"90"	"1481"	"0"	"1481"	"0"	"c.1481C>T"	"r.(?)"	"p.(Thr494Met)"	""
"0000704005"	"00016895"	"90"	"1481"	"0"	"1481"	"0"	"c.1481C>T"	"r.(?)"	"p.(Thr494Met)"	"11"
"0000716788"	"00016895"	"30"	"1985"	"0"	"1985"	"0"	"c.1985A>G"	"r.(?)"	"p.(Lys662Arg)"	""
"0000732739"	"00016895"	"70"	"1481"	"0"	"1481"	"0"	"c.1481C>T"	"r.(?)"	"p.(Thr494Met)"	""
"0000732821"	"00016895"	"70"	"1481"	"0"	"1481"	"0"	"c.1481C>T"	"r.(?)"	"p.(Thr494Met)"	""
"0000736412"	"00016895"	"90"	"1477"	"0"	"1477"	"0"	"c.1477C>T"	"r.(?)"	"p.(Pro493Ser)"	"11"
"0000736413"	"00016895"	"90"	"1481"	"0"	"1481"	"0"	"c.1481C>T"	"r.(?)"	"p.(Thr494Met)"	"11"
"0000736802"	"00016895"	"70"	"1480"	"0"	"1480"	"0"	"c.1480A>G"	"r.(?)"	"p.(Thr494Ala)"	""
"0000760665"	"00016895"	"90"	"1283"	"-60"	"1283"	"-57"	"c.1283-60_1283-57del"	"r.spl"	"p.?"	""
"0000766056"	"00016895"	"90"	"1481"	"0"	"1481"	"0"	"c.1481C>T"	"r.(?)"	"p.(Thr494Met)"	""
"0000784192"	"00016895"	"90"	"1481"	"0"	"1481"	"0"	"c.1481C>T"	"r.(?)"	"p.(Thr494Met)"	""
"0000784547"	"00016895"	"50"	"1905"	"6"	"1905"	"6"	"c.1905+6T>G"	"r.(=)"	"p.(=)"	""
"0000785544"	"00016895"	"30"	"1922"	"0"	"1922"	"0"	"c.1922G>A"	"r.(?)"	"p.(Arg641Gln)"	""
"0000786305"	"00016895"	"90"	"1481"	"0"	"1481"	"0"	"c.1481C>T"	"r.(?)"	"p.(Thr494Met)"	""
"0000790647"	"00016895"	"50"	"729"	"-3"	"729"	"-3"	"c.729-3C>T"	"r.spl?"	"p.?"	""
"0000791445"	"00016895"	"70"	"1481"	"0"	"1481"	"0"	"c.1481C>T"	"r.(?)"	"p.(Thr494Met)"	"11"
"0000791446"	"00016895"	"70"	"1481"	"0"	"1481"	"0"	"c.1481C>T"	"r.(?)"	"p.(Thr494Met)"	"11"
"0000791447"	"00016895"	"70"	"1481"	"0"	"1481"	"0"	"c.1481C>T"	"r.(?)"	"p.(Thr494Met)"	"11"
"0000792043"	"00016895"	"50"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	"11"
"0000792233"	"00016895"	"50"	"1481"	"0"	"1481"	"0"	"c.1481C>T"	"r.(?)"	"p.(Thr494Met)"	"11"
"0000792234"	"00016895"	"50"	"1477"	"0"	"1477"	"0"	"c.1477C>T"	"r.(?)"	"p.(Pro493Ser)"	"11"
"0000792235"	"00016895"	"50"	"1481"	"0"	"1481"	"0"	"c.1481C>T"	"r.(?)"	"p.(Thr494Met)"	"11"
"0000792244"	"00016895"	"90"	"1481"	"0"	"1481"	"0"	"c.1481C>T"	"r.(?)"	"p.(Thr494Met)"	"11"
"0000794920"	"00016895"	"70"	"1481"	"0"	"1481"	"0"	"c.1481C>T"	"r.(?)"	"p.(Thr494Met)"	"11"
"0000794921"	"00016895"	"70"	"1481"	"0"	"1481"	"0"	"c.1481C>T"	"r.(?)"	"p.(Thr494Met)"	"11"
"0000810878"	"00016895"	"30"	"2877"	"25008"	"2877"	"25008"	"c.2877+25008T>C"	"r.(?)"	"p.(=)"	"16"
"0000810890"	"00016895"	"10"	"1526"	"37"	"1526"	"37"	"c.1526+37G>C"	"r.(?)"	"p.?"	""
"0000810892"	"00016895"	"30"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000810895"	"00016895"	"30"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000810915"	"00016895"	"10"	"1760"	"-12"	"1760"	"-12"	"c.1760-12C>T"	"r.(=)"	"p.(=)"	"13i"
"0000810916"	"00016895"	"30"	"2094"	"0"	"2094"	"0"	"c.*42C>T"	"r.(=)"	"p.(=)"	"16"
"0000810932"	"00016895"	"30"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000812630"	"00016895"	"70"	"976"	"0"	"976"	"0"	"c.976A>G"	"r.(?)"	"p.(Thr326Ala)"	""
"0000813900"	"00016895"	"70"	"1285"	"0"	"1285"	"0"	"c.1285G>T"	"r.(?)"	"p.(Asp429Tyr)"	""
"0000815306"	"00016895"	"90"	"1477"	"0"	"1477"	"0"	"c.1477C>T"	"r.(?)"	"p.(Pro493Ser)"	""
"0000815307"	"00016895"	"90"	"1477"	"0"	"1477"	"0"	"c.1477C>T"	"r.(?)"	"p.(Pro493Ser)"	""
"0000815527"	"00016895"	"50"	"830"	"0"	"830"	"0"	"c.830G>A"	"r.(?)"	"p.(Arg277His)"	""
"0000815989"	"00016895"	"90"	"1481"	"0"	"1481"	"0"	"c.1481C>T"	"r.(?)"	"p.(Thr494Met)"	""
"0000816155"	"00016895"	"50"	"1426"	"0"	"1426"	"0"	"c.1426G>A"	"r.(?)"	"p.(Val476Met)"	""
"0000816665"	"00016895"	"70"	"1007"	"0"	"1007"	"0"	"c.1007A>G"	"r.(?)"	"p.(Glu336Gly)"	""
"0000820092"	"00016895"	"70"	"1481"	"0"	"1481"	"0"	"c.1481C>T"	"r.(?)"	"p.(Thr494Met)"	""
"0000820144"	"00016895"	"70"	"1496"	"0"	"1496"	"0"	"c.1496A>C"	"r.(?)"	"p.(His499Pro)"	""
"0000820145"	"00016895"	"70"	"1496"	"0"	"1496"	"0"	"c.1496A>C"	"r.(?)"	"p.(His499Pro)"	""
"0000820146"	"00016895"	"70"	"1496"	"0"	"1496"	"0"	"c.1496A>C"	"r.(?)"	"p.(His499Pro)"	""
"0000820147"	"00016895"	"70"	"1496"	"0"	"1496"	"0"	"c.1496A>C"	"r.(?)"	"p.(His499Pro)"	""
"0000820561"	"00016895"	"70"	"1283"	"-2"	"1283"	"-2"	"c.1283-2A>G"	"r.spl"	"p.(?)"	""
"0000822118"	"00016895"	"70"	"1477"	"0"	"1477"	"0"	"c.1477C>T"	"r.(?)"	"p.(Pro493Ser)"	"11"
"0000827132"	"00016895"	"90"	"1477"	"0"	"1477"	"0"	"c.1477C>T"	"r.(?)"	"p.(Pro493Ser)"	"11"
"0000827133"	"00016895"	"90"	"1477"	"0"	"1477"	"0"	"c.1477C>T"	"r.(?)"	"p.(Pro493Ser)"	"11"
"0000828846"	"00016895"	"70"	"-49"	"2"	"-49"	"2"	"c.-49+2T>C"	"r.spl"	"p.(?)"	""
"0000828910"	"00016895"	"70"	"-49"	"2"	"-49"	"2"	"c.-49+2T>C"	"r.spl"	"p.(?)"	""
"0000845430"	"00016895"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	"4"
"0000856962"	"00016895"	"30"	"1427"	"-18"	"1427"	"-18"	"c.1427-18G>T"	"r.(=)"	"p.(=)"	""
"0000867661"	"00016895"	"70"	"1481"	"0"	"1481"	"0"	"c.1481C>G"	"r.(?)"	"p.(Thr494Arg)"	"11"
"0000867662"	"00016895"	"70"	"1481"	"0"	"1481"	"0"	"c.1481C>G"	"r.(?)"	"p.(Thr494Arg)"	"11"
"0000867663"	"00016895"	"70"	"1481"	"0"	"1481"	"0"	"c.1481C>G"	"r.(?)"	"p.(Thr494Arg)"	"11"
"0000867664"	"00016895"	"70"	"1481"	"0"	"1481"	"0"	"c.1481C>G"	"r.(?)"	"p.(Thr494Arg)"	"11"
"0000867665"	"00016895"	"70"	"1481"	"0"	"1481"	"0"	"c.1481C>G"	"r.(?)"	"p.(Thr494Arg)"	"11"
"0000867666"	"00016895"	"70"	"1481"	"0"	"1481"	"0"	"c.1481C>G"	"r.(?)"	"p.(Thr494Arg)"	"11"
"0000867667"	"00016895"	"70"	"1481"	"0"	"1481"	"0"	"c.1481C>G"	"r.(?)"	"p.(Thr494Arg)"	"11"
"0000867668"	"00016895"	"70"	"1481"	"0"	"1481"	"0"	"c.1481C>G"	"r.(?)"	"p.(Thr494Arg)"	"11"
"0000867669"	"00016895"	"70"	"1481"	"0"	"1481"	"0"	"c.1481C>G"	"r.(?)"	"p.(Thr494Arg)"	"11"
"0000882758"	"00016895"	"70"	"1477"	"0"	"1477"	"0"	"c.1477C>T"	"r.(?)"	"p.(Pro493Ser)"	""
"0000896599"	"00016895"	"70"	"-49"	"2"	"-49"	"2"	"c.-49+2T>C"	"r.spl"	"p.?"	""
"0000896682"	"00016895"	"70"	"-49"	"2"	"-49"	"2"	"c.-49+2T>C"	"r.spl"	"p.?"	""
"0000896983"	"00016895"	"70"	"1435"	"0"	"1435"	"0"	"c.1435T>A"	"r.(?)"	"p.(Ser479Thr)"	"11"
"0000896984"	"00016895"	"90"	"1481"	"0"	"1481"	"0"	"c.1481C>T"	"r.(?)"	"p.(Thr494Met)"	"11"
"0000896985"	"00016895"	"90"	"1481"	"0"	"1481"	"0"	"c.1481C>T"	"r.(?)"	"p.(Thr494Met)"	"11"
"0000896986"	"00016895"	"90"	"1481"	"0"	"1481"	"0"	"c.1481C>T"	"r.(?)"	"p.(Thr494Met)"	"11"
"0000896987"	"00016895"	"70"	"2018"	"0"	"2018"	"0"	"c.2018C>T"	"r.(?)"	"p.(Ala673Val)"	"16"
"0000896988"	"00016895"	"70"	"1426"	"1"	"1426"	"1"	"c.1426+1G>A"	"r.spl"	"p.?"	"10i"
"0000896989"	"00016895"	"70"	"1426"	"1"	"1426"	"1"	"c.1426+1G>A"	"r.spl"	"p.?"	"10i"
"0000905684"	"00016895"	"90"	"1482"	"0"	"1482"	"0"	"c.1482C>T"	"r.?"	"p.?"	"11"
"0000905685"	"00016895"	"90"	"1478"	"0"	"1478"	"0"	"c.1478C>T"	"r.(?)"	"p.(Pro493Leu)"	"11"
"0000905686"	"00016895"	"90"	"1482"	"0"	"1482"	"0"	"c.1482C>T"	"r.?"	"p.?"	"11"
"0000905687"	"00016895"	"90"	"1478"	"0"	"1478"	"0"	"c.1478C>T"	"r.(?)"	"p.(Pro493Leu)"	"11"
"0000905688"	"00016895"	"90"	"1478"	"0"	"1478"	"0"	"c.1478C>T"	"r.(?)"	"p.(Pro493Leu)"	"11"
"0000905689"	"00016895"	"90"	"1482"	"0"	"1482"	"0"	"c.1482C>T"	"r.?"	"p.?"	"11"
"0000905690"	"00016895"	"90"	"1482"	"0"	"1482"	"0"	"c.1482C>T"	"r.?"	"p.?"	"11"
"0000905691"	"00016895"	"90"	"1482"	"0"	"1482"	"0"	"c.1482C>T"	"r.?"	"p.?"	"11"
"0000905692"	"00016895"	"90"	"1482"	"0"	"1482"	"0"	"c.1482C>T"	"r.?"	"p.?"	"11"
"0000905693"	"00016895"	"90"	"1482"	"0"	"1482"	"0"	"c.1482C>T"	"r.?"	"p.?"	"11"
"0000905694"	"00016895"	"90"	"1482"	"0"	"1482"	"0"	"c.1482C>T"	"r.?"	"p.?"	"11"
"0000905695"	"00016895"	"90"	"1482"	"0"	"1482"	"0"	"c.1482C>T"	"r.?"	"p.?"	"11"
"0000905696"	"00016895"	"90"	"1482"	"0"	"1482"	"0"	"c.1482C>T"	"r.?"	"p.?"	"11"
"0000905697"	"00016895"	"90"	"1482"	"0"	"1482"	"0"	"c.1482C>T"	"r.?"	"p.?"	"11"
"0000905698"	"00016895"	"90"	"1482"	"0"	"1482"	"0"	"c.1482C>T"	"r.?"	"p.?"	"11"
"0000905699"	"00016895"	"90"	"1482"	"0"	"1482"	"0"	"c.1482C>T"	"r.?"	"p.?"	"11"
"0000905700"	"00016895"	"90"	"1482"	"0"	"1482"	"0"	"c.1482C>T"	"r.?"	"p.?"	"11"
"0000905701"	"00016895"	"90"	"1345"	"0"	"1345"	"0"	"c.1345C>G"	"r.(?)"	"p.(Arg449Gly)"	"10"
"0000905702"	"00016895"	"90"	"1532"	"0"	"1532"	"0"	"c.1532A>C"	"r.(?)"	"p.(His511Pro)"	"12"
"0000910775"	"00016895"	"30"	"1464"	"0"	"1464"	"0"	"c.1464A>G"	"r.(?)"	"p.(Glu488=)"	""
"0000916014"	"00016895"	"70"	"-48"	"-2"	"-48"	"-2"	"c.-48-2dup"	"r.spl?"	"p.(?)"	"1i"
"0000928006"	"00016895"	"50"	"673"	"0"	"673"	"0"	"c.673G>A"	"r.(?)"	"p.(Gly225Ser)"	""
"0000933405"	"00016895"	"90"	"1477"	"0"	"1477"	"0"	"c.1477C>T"	"r.(?)"	"p.(Pro493Ser)"	""
"0000958835"	"00016895"	"50"	"1496"	"0"	"1496"	"0"	"c.1496A>C"	"r.(?)"	"p.(His499Pro)"	""
"0000958969"	"00016895"	"50"	"1409"	"0"	"1409"	"0"	"c.1409C>T"	"r.(?)"	"p.(Pro470Leu)"	""
"0000959225"	"00016895"	"50"	"1334"	"0"	"1334"	"0"	"c.1334A>G"	"r.(?)"	"p.(Gln445Arg)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 94
"{{screeningid}}"	"{{variantid}}"
"0000052897"	"0000790647"
"0000233077"	"0000475785"
"0000233078"	"0000475786"
"0000233079"	"0000475787"
"0000233080"	"0000475788"
"0000310452"	"0000685363"
"0000321199"	"0000704005"
"0000334732"	"0000732739"
"0000334814"	"0000732821"
"0000336874"	"0000736412"
"0000336875"	"0000736413"
"0000337178"	"0000736802"
"0000360623"	"0000760665"
"0000365101"	"0000766056"
"0000373879"	"0000784192"
"0000373930"	"0000784547"
"0000374721"	"0000785544"
"0000375044"	"0000786305"
"0000378596"	"0000791445"
"0000378597"	"0000791446"
"0000378598"	"0000791447"
"0000379022"	"0000792043"
"0000379147"	"0000792244"
"0000381460"	"0000794920"
"0000381461"	"0000794921"
"0000384295"	"0000810878"
"0000384300"	"0000810890"
"0000384301"	"0000810892"
"0000384303"	"0000810895"
"0000384310"	"0000810915"
"0000384310"	"0000810916"
"0000384323"	"0000810932"
"0000385549"	"0000812630"
"0000386403"	"0000813900"
"0000387422"	"0000815306"
"0000387423"	"0000815307"
"0000387493"	"0000815527"
"0000387831"	"0000815989"
"0000387997"	"0000816155"
"0000388206"	"0000816665"
"0000390747"	"0000820092"
"0000390799"	"0000820144"
"0000390800"	"0000820145"
"0000390801"	"0000820146"
"0000390802"	"0000820147"
"0000391216"	"0000820561"
"0000391999"	"0000822118"
"0000395730"	"0000827132"
"0000395731"	"0000827133"
"0000397100"	"0000828846"
"0000397164"	"0000828910"
"0000408529"	"0000845430"
"0000410789"	"0000867661"
"0000410790"	"0000867662"
"0000410791"	"0000867663"
"0000410792"	"0000867664"
"0000410793"	"0000867665"
"0000410794"	"0000867666"
"0000410795"	"0000867667"
"0000410796"	"0000867668"
"0000410797"	"0000867669"
"0000421799"	"0000896599"
"0000421861"	"0000896682"
"0000422094"	"0000896983"
"0000422095"	"0000896984"
"0000422096"	"0000896985"
"0000422097"	"0000896986"
"0000422098"	"0000896987"
"0000422099"	"0000896988"
"0000422100"	"0000896989"
"0000428061"	"0000905684"
"0000428062"	"0000905685"
"0000428063"	"0000905686"
"0000428064"	"0000905687"
"0000428065"	"0000905688"
"0000428066"	"0000905689"
"0000428067"	"0000905690"
"0000428068"	"0000905691"
"0000428069"	"0000905692"
"0000428070"	"0000905693"
"0000428071"	"0000905694"
"0000428072"	"0000905695"
"0000428073"	"0000905696"
"0000428074"	"0000905697"
"0000428075"	"0000905698"
"0000428076"	"0000905699"
"0000428077"	"0000905700"
"0000428078"	"0000905701"
"0000428079"	"0000905702"
"0000431063"	"0000916014"
"0000437939"	"0000933405"
"0000449006"	"0000959225"
"0000449068"	"0000958835"
"0000449202"	"0000958969"