### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ROM1)
# 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}}"
"ROM1"	"retinal outer segment membrane protein 1"	"11"	"q13"	"unknown"	"NG_009845.1"	"UD_132119131651"	""	"https://www.LOVD.nl/ROM1"	""	"1"	"10254"	"6094"	"180721"	"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"	"https://databases.lovd.nl/shared/refseq/ROM1_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2012-07-04 00:00:00"	"00006"	"2017-06-16 16:01:37"	"00000"	"2025-05-05 21:14:00"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00018040"	"ROM1"	"retinal outer segment membrane protein 1"	"001"	"NM_000327.3"	""	"NP_000318.1"	""	""	""	"-541"	"1337"	"1056"	"62380213"	"62382592"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 8
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"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"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"04249"	"macular dystrophy"	"dystrophy, macular"	""	""	""	""	""	"00006"	"2015-05-04 22:10:58"	"00006"	"2024-02-15 21:18:39"
"05412"	"maculopathy"	"maculopathy"	""	""	""	""	""	"00006"	"2018-03-23 12:21:26"	""	""
"05415"	"USH"	"Usher syndrome (USH)"	""	""	""	""	""	"00006"	"2018-04-02 16:40:44"	""	""
"06107"	"RP7"	"retinitis pigmentosa 7, digenic form"	"AD;AR"	"608133"	""	""	""	"00006"	"2021-12-10 23:20:41"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"ROM1"	"06107"


## Individuals ## Do not remove or alter this header ##
## Count = 92
"{{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}}"
"00001783"	""	""	""	"1"	""	"00102"	""	""	""	""	"(United States)"	""	"0"	""	""	""	""
"00105022"	""	""	""	"1"	""	"01244"	"{PMID:de Castro-Miró 2016:28005958}"	""	"F"	"no"	"Spain"	""	"0"	""	""	""	"22ORG1"
"00204287"	""	""	""	"1"	""	"00717"	""	""	""	""	""	""	"0"	""	""	""	""
"00233210"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233211"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233212"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233213"	""	""	""	"21"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233214"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233215"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233216"	""	""	""	"4"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233217"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00308416"	""	""	""	"1"	""	"00004"	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	""	""	"France"	""	"0"	""	""	""	"CIC05007"
"00309670"	""	""	""	"1"	""	"00006"	"{PMID:Jinda 2014:24618324}"	""	"M"	""	"Thailand"	""	"0"	""	""	""	"RP038"
"00309836"	""	""	""	"1"	""	"00006"	"{PMID:Shah 2018:30300315}"	""	"F"	""	"United States"	""	"0"	""	""	"white"	""
"00328402"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2018:29453956}"	""	""	""	"China"	""	"0"	""	""	""	"690924"
"00328403"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2018:29453956}"	""	""	""	"China"	""	"0"	""	""	""	"680853"
"00328404"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2018:29453956}"	""	""	""	"China"	""	"0"	""	""	""	"681086"
"00332379"	""	""	""	"1"	""	"00006"	"{PMID:Essilfie 2018:29155698}"	""	"F"	""	"United States"	""	"0"	""	""	""	"patient"
"00332525"	""	""	""	"1"	""	"00006"	"{PMID:Comander 2017:28981474}"	""	"M"	""	"United States"	""	"0"	""	""	""	"Pat3"
"00333353"	""	""	""	"1"	""	"00000"	"{PMID:Costa 2017:28912962}"	""	"F"	""	"Brazil"	""	"0"	""	""	""	"Pat9"
"00334431"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2017:28512305}"	"family"	""	""	"China"	""	"0"	""	""	""	"RP-111"
"00334564"	""	""	""	"1"	""	"00000"	"{PMID:Jinda 2017:28453600}"	"patient"	""	""	"Thailand"	""	"0"	""	""	""	"RP038"
"00335493"	""	""	""	"1"	""	"00000"	"{PMID:Bernardis 2016:28127548}"	" "	""	""	"Italy"	""	"0"	""	""	""	"IRD016"
"00335707"	""	""	""	"3"	""	"00008"	"{PMID:Sullivan 2006:16799052}"	"1 family"	""	""	"United States"	""	"0"	""	""	""	""
"00335708"	""	""	""	"1"	""	"00008"	"{PMID:Sullivan 2006:16799052}"	"1 family"	""	""	"United States"	""	"0"	""	""	""	""
"00335709"	""	""	""	"1"	""	"00008"	"{PMID:Sullivan 2006:16799052}"	"1 family"	""	""	"United States"	""	"0"	""	""	""	""
"00335710"	""	""	""	"1"	""	"00008"	"{PMID:Sullivan 2006:16799052}"	"1 family"	""	""	"United States"	""	"0"	""	""	""	""
"00335711"	""	""	""	"1"	""	"00008"	"{PMID:Sullivan 2006:16799052}"	"1 family"	""	""	"United States"	""	"0"	""	""	""	""
"00358968"	""	""	""	"1"	""	"00000"	"{PMID:Tiwari 2016:27353947}"	"see paper"	"F"	""	"Switzerland"	""	"0"	""	""	""	"Case29303"
"00358976"	""	""	""	"1"	""	"00000"	"{PMID:Tiwari 2016:27353947}"	"see paper"	"M"	""	"Switzerland"	""	"0"	""	""	""	"Case27419"
"00360605"	""	""	""	"1"	""	"04036"	"{PMID:Poloschek 2010:20335603)"	"Mother IV-1/index case, sister III-4, aunt IV-7, grand mother V-1/V-2/V-7"	"F"	"no"	"Germany"	""	"0"	""	""	"white"	"28589 (III-2)"
"00360606"	""	""	""	"1"	""	"04036"	"{PMID:Poloschek 2010:20335603)"	"Son III-2, brother index case, father V-1/V-2, uncle V-4, cousin IV-7, family member III-2"	"M"	"no"	"Germany"	""	"0"	""	""	"white"	"28590 (IV-1)"
"00360607"	""	""	""	"1"	""	"04036"	"{PMID:Poloschek 2010:20335603)"	"Son IV-1, brother V-2, cousin V-4/index case, grand son III-2, familymember III-4, IV-7"	"M"	"no"	"Germany"	""	"0"	""	""	"white"	"28582 (V-1)"
"00360608"	""	""	""	"1"	""	"04036"	"{PMID:Poloschek 2010:20335603)"	"index case, mother V-4, aunt V-1/V-2, daughter III-2, sister IV-1, niece IV-7, family member III-4"	"F"	"no"	"Germany"	""	"0"	""	""	"white"	"26593 (IV-4)"
"00360609"	""	""	""	"1"	""	"04036"	"{PMID:Poloschek 2010:20335603)"	"Daughter index case, niece V-1/V-2/IV-1, grand daughter III-2, family member III-4/IV-7"	"F"	"no"	"Germany"	""	"0"	""	""	"white"	"28583 (V-4)"
"00362260"	""	""	""	"1"	""	"02404"	"{PMID:Bahena 2021:34148116}"	""	"F"	"yes"	"Iran"	""	"0"	""	""	""	"Pat42"
"00363373"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2015:26747767}"	"proband"	""	""	"China"	""	"0"	""	""	""	"HM384"
"00368356"	""	""	""	"1"	""	"01695"	"{PMID:Xu 2014:24938718}"	"Younger brother affected as well"	"M"	"no"	"China"	""	"0"	""	""	"China"	"RP250"
"00372649"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"family"	"F"	""	"China"	""	"0"	""	""	""	"RP053"
"00372668"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"patient"	"M"	""	"China"	""	"0"	""	""	""	"RP397"
"00372670"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"patient"	"F"	""	"China"	""	"0"	""	""	""	"RP201"
"00372683"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"family"	"M"	""	"China"	""	"0"	""	""	""	"RP396"
"00372695"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP319"
"00372708"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP200"
"00372725"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP308"
"00375287"	""	""	""	"1"	""	"00000"	"{PMID:Oishi 2014:25324289}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"K6451"
"00377046"	""	""	""	"1"	""	"00000"	"{PMID:Poloschek-2010:20335603}"	""	"F"	""	"Germany"	""	"0"	""	""	"German"	""
"00377047"	""	""	""	"1"	""	"00000"	"{PMID:Poloschek-2010:20335603}"	""	"M"	""	"Germany"	""	"0"	""	""	"German"	""
"00379399"	""	""	""	"1"	""	"00000"	"{PMID:Simpson-2011:21147909}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00379412"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2011:29453956}"	""	""	""	"China"	""	"0"	""	""	""	""
"00379413"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2011:29453956}"	""	""	""	"China"	""	"0"	""	""	""	""
"00379414"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2011:29453956}"	""	""	""	"China"	""	"0"	""	""	""	""
"00379618"	""	""	""	"1"	""	"00000"	"{PMID:Nishiguchi-2012:22848652}"	""	""	""	""	""	"0"	""	""	"European American"	""
"00379619"	""	""	""	"1"	""	"00000"	"{PMID:Nishiguchi-2012:22848652}"	""	""	""	""	""	"0"	""	""	"African American"	""
"00381055"	""	""	""	"1"	""	"00000"	"{PMID:Chen-2013:23661368}"	""	""	""	"China"	""	"0"	""	""	"Chinese"	""
"00381647"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"F"	"no"	"Germany"	""	"0"	""	""	""	""
"00381697"	""	""	""	"1"	""	"00000"	"{PMID:Wang-2014:24154662}"	""	""	"no"	""	""	"0"	""	""	""	""
"00382372"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"201"
"00383080"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383086"	""	""	""	"1"	""	"00000"	"{PMID:Anasagasti-2013:24416769}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00383759"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31054281}"	""	"?"	""	"China"	""	"0"	""	""	""	"RD18070017_A"
"00383845"	""	""	""	"1"	""	"00000"	"{PMID:Hariri 2018:31047384}"	""	"?"	""	""	""	"0"	""	""	""	""
"00386186"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-140, family member"	"M"	""	"Spain"	""	"0"	""	""	""	"RPN-271"
"00386187"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-140, proband"	"F"	""	"Spain"	""	"0"	""	""	""	"RPN-297"
"00386256"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-226, proband"	"M"	""	"Spain"	""	"0"	""	""	""	"RPN-551"
"00386287"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-AP, proband"	"F"	""	"Spain"	""	"0"	""	""	""	"RPN-461"
"00387630"	""	""	""	"1"	""	"00000"	"{PMID:Zanolli 2020:32141364}"	"individual ID not present in paper, consecutive numbers given"	"?"	""	"Chile"	""	"0"	""	""	""	"15"
"00392562"	""	""	""	"1"	""	"00000"	"{PMID:Verdina 2021:33688152}"	"family T"	"M"	""	"Italy"	""	"0"	""	""	""	"P15"
"00416458"	""	""	""	"1"	""	"00000"	"{PMID:Bascom 1995:8595413}"	"family 1, proband"	"M"	""	""	""	"0"	""	""	""	"HS770_I-1"
"00416459"	""	""	""	"1"	""	"00000"	"{PMID:Bascom 1995:8595413}"	"family 1, proband\'s father"	"M"	""	""	""	"0"	""	""	""	"HS770_II-1"
"00416460"	""	""	""	"1"	""	"00000"	"{PMID:Bascom 1995:8595413}"	"proband"	"F"	""	""	""	"0"	""	""	""	"86-1_II-2"
"00416461"	""	""	""	"1"	""	"00000"	"{PMID:Bascom 1995:8595413}"	"proband"	"M"	""	""	""	"0"	""	""	""	"56-1_II-1"
"00416462"	""	""	""	"1"	""	"00000"	"{PMID:Bascom 1995:8595413}"	"proband"	"M"	""	""	""	"0"	""	""	""	"10-1_II-2"
"00416464"	""	""	""	"1"	""	"00000"	"{PMID:Martinez-Mir 1997:9187681}"	"family V-8, proband\'s mother; consanguinity between parents, husband from the same small village, but the pattern of inheritance resembles autosomal dominant, brother affected but deseased, DNA not available"	"F"	"likely"	"Spain"	""	"0"	""	""	"Spanish"	"V-8_I-2"
"00416465"	""	""	""	"1"	""	"00000"	"{PMID:Martinez-Mir 1997:9187681}"	"family V-8, proband; consanguinity between grandparents, parents from the same small village, but the pattern of inheritance resembles autosomal dominant; mother\'s  brother affected but deseased, DNA not available"	"F"	"likely"	"Spain"	""	"0"	""	""	"Spanish"	"V-8_II-4"
"00416466"	""	""	""	"1"	""	"00000"	"{PMID:Martinez-Mir 1997:9187681}"	"family V-8, proband\'s sister; consanguinity between grandparents, parents from the same small village, but the pattern of inheritance resembles autosomal dominant; mother\'s  brother affected but deseased, DNA not available"	"F"	"likely"	"Spain"	""	"0"	""	""	"Spanish"	"V-8_II-5"
"00416467"	""	""	""	"1"	""	"00000"	"{PMID:Reig 2000:10980553}"	"Spanish family, additional mutation carriers 2, 6, 9 and 11 are unaffected - normal electroretingram and no symptom of disease"	""	""	"Spain"	""	"0"	""	""	"Spanish"	"3"
"00416468"	""	""	""	"1"	""	"00000"	"{PMID:Reig 2000:10980553}"	"Spanish family, additional mutation carriers 2, 6, 9 and 11 are unaffected - normal electroretingram and no symptom of disease"	""	""	"Spain"	""	"0"	""	""	"Spanish"	"7"
"00416469"	""	""	""	"1"	""	"00000"	"{PMID:Ma 2019:30630813}"	""	"F"	""	""	""	"0"	""	""	"Polish"	"?"
"00419693"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}"	""	"M"	""	""	""	"0"	""	""	""	"070227"
"00419720"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}"	""	"M"	""	""	""	"0"	""	""	""	"070594"
"00419721"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}"	""	"M"	""	""	""	"0"	""	""	""	"070604"
"00426046"	""	""	""	"1"	""	"00000"	"{PMID:Xiao 2017:28430325}"	"5-generation family, 33  members  with 15 affected members, individual IV:14, son of III:6"	"M"	""	"China"	""	"0"	""	""	"Chinese"	"IV:14"
"00426930"	""	""	""	"1"	""	"00000"	"{PMID:Zhu 2022:35456422}"	"family 33, individual 39"	"F"	""	""	""	"0"	""	""	""	"33_39"
"00429651"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00430097"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"M"	""	""	""	"0"	""	""	""	""
"00447159"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"MDS-404"
"00447509"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"ARRP-467"
"00447690"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"SRP-52"
"00447727"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"UD-108"
"00450983"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"M"	""	""	""	"0"	""	""	""	"079830"
"00451066"	""	""	""	"1"	""	"00006"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	""	""	"0"	""	""	""	"066828"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 92
"{{individualid}}"	"{{diseaseid}}"
"00001783"	"00112"
"00105022"	"04214"
"00204287"	"05412"
"00233210"	"04214"
"00233211"	"04214"
"00233212"	"04214"
"00233213"	"04214"
"00233214"	"04214"
"00233215"	"04214"
"00233216"	"04214"
"00233217"	"04214"
"00308416"	"04214"
"00309670"	"04214"
"00309836"	"04214"
"00328402"	"04214"
"00328403"	"04214"
"00328404"	"04214"
"00332379"	"04214"
"00332525"	"04214"
"00333353"	"04214"
"00334431"	"04214"
"00334564"	"04214"
"00335493"	"04214"
"00335707"	"04214"
"00335708"	"04214"
"00335709"	"04214"
"00335710"	"04214"
"00335711"	"04214"
"00358968"	"04214"
"00358976"	"04214"
"00360605"	"04214"
"00360606"	"04214"
"00360607"	"04214"
"00360608"	"04214"
"00360609"	"04214"
"00362260"	"05415"
"00363373"	"04214"
"00368356"	"04214"
"00372649"	"04214"
"00372668"	"04214"
"00372670"	"04214"
"00372683"	"04214"
"00372695"	"04214"
"00372708"	"04214"
"00372725"	"04214"
"00375287"	"04214"
"00377046"	"04214"
"00377047"	"04214"
"00379399"	"04214"
"00379412"	"04214"
"00379413"	"04214"
"00379414"	"04214"
"00379618"	"00000"
"00379619"	"00000"
"00381055"	"04214"
"00381647"	"04214"
"00381697"	"04214"
"00382372"	"04214"
"00383080"	"04214"
"00383086"	"04214"
"00383759"	"04214"
"00383845"	"04214"
"00386186"	"04214"
"00386187"	"04214"
"00386256"	"04214"
"00386287"	"04214"
"00387630"	"04214"
"00392562"	"04214"
"00416458"	"04214"
"00416459"	"04214"
"00416460"	"04214"
"00416461"	"04214"
"00416462"	"04214"
"00416464"	"04214"
"00416465"	"04214"
"00416466"	"04214"
"00416467"	"04214"
"00416468"	"04214"
"00416469"	"04214"
"00419693"	"04214"
"00419720"	"04214"
"00419721"	"04214"
"00426046"	"04214"
"00426930"	"04214"
"00429651"	"00112"
"00430097"	"00112"
"00447159"	"00198"
"00447509"	"00198"
"00447690"	"00198"
"00447727"	"00198"
"00450983"	"04249"
"00451066"	"04249"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00112, 00198, 04214, 04249, 05412, 05415, 06107
## Count = 78
"{{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}}"
"0000082936"	"04214"	"00105022"	"01244"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000233843"	"04214"	"00308416"	"00004"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000234989"	"04214"	"00309670"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235150"	"04214"	"00309836"	"00006"	"Unknown"	"65y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"vitelliform macular dystrophy"	""
"0000246628"	"04214"	"00328402"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia"	""
"0000246629"	"04214"	"00328403"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia"	""
"0000246630"	"04214"	"00328404"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia"	""
"0000250565"	"04214"	"00332379"	"00006"	"Unknown"	"60y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Bull’s eye maculopathy"	""
"0000250713"	"04214"	"00332525"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"pericentral retinitis pigmentosa"	""
"0000251540"	"04214"	"00333353"	"00000"	"Familial, autosomal dominant"	"27y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252520"	"04214"	"00334431"	"00000"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252604"	"04214"	"00334564"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253438"	"04214"	"00335493"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000253627"	"04214"	"00335707"	"00008"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000253628"	"04214"	"00335708"	"00008"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000253629"	"04214"	"00335709"	"00008"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000253630"	"04214"	"00335710"	"00008"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000253631"	"04214"	"00335711"	"00008"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"autosomal dominant retinitis pigmentosa (adRP)"	""
"0000254266"	"04214"	"00358968"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000254274"	"04214"	"00358976"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Usher syndrome"	""
"0000256010"	"04214"	"00360605"	"04036"	"Familial, autosomal dominant"	""	"visual acuity: OD = 0.05, OS = 0.02. Visual field: Stable. Colour vision: not possible to perform testing."	"30y"	""	"Loss in visual acuity."	""	""	""	""	""	""	"retinal dystrophy"	""
"0000256011"	"04214"	"00360606"	"04036"	"Familial, autosomal dominant"	""	"visual acuity: OD = 0.8, OS = 0.7. Visual field: paracentral scotoma from 1 - 10° radius. Colour vision: mild unspecific defects."	"50y"	""	"Adaptation difficulties"	""	""	""	""	""	""	"retinal dystrophy"	""
"0000256012"	"04214"	"00360607"	"04036"	"Familial, autosomal dominant"	""	"visual acuity: OD = 0.9, OS = 0.9. Visual field: OD =normal, OS = paracentral defects 10° from center. Colour vision: normal in both eyes."	"22y"	""	"Flickering light sensation"	""	""	""	""	""	""	"retinal dystrophy"	""
"0000256013"	"04214"	"00360608"	"04036"	"Familial, autosomal dominant"	""	"visual acuity: OD = 0.2, OS = 0.3. Visual field: OD = paracentral scotoma 10°, sensitivity loss for I/1, and I/2, OS = central scotoma 40° extending temporally. Colour vision: marked protan and deutan defects in both eyes."	"13y"	""	"Mild visual acuity loss"	""	""	""	""	""	""	"retinal dystrophy"	""
"0000256014"	"04214"	"00360609"	"04036"	"Familial, autosomal dominant"	""	"visual acuity: OD = 1.0, OS = 1.2. Visual field: supmild constriction (I/3,I/2,I/1) in both eyes, and in OS a paracentral scotoma 5° was observed. Colour vision: normal in both eyes."	"22y"	""	"Photophobia in bright light and mild nyctalopia"	""	""	""	""	""	""	"retinal dystrophy"	""
"0000258738"	"04214"	"00363373"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"early onset high myopia"	""
"0000263694"	"04214"	"00368356"	"01695"	"Unknown"	""	"At the age of 19, the visual acuity was 0.04/0.03 (OD/OS). The fundus showed: attenuated retinal arteries;macular degeneration. ERG response of the rods was: Extinguished and of the cones was Severe."	"12y"	""	"poor vision"	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267928"	"04214"	"00372649"	"00000"	"Familial, autosomal dominant"	"33y"	"see paper; ..."	"12y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267947"	"04214"	"00372668"	"00000"	"Familial, autosomal recessive"	"6y"	"see paper; ..."	"<10y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267949"	"04214"	"00372670"	"00000"	"Familial, autosomal recessive"	"29y"	"see paper; ..."	"15y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267962"	"04214"	"00372683"	"00000"	"Familial, X-linked"	"40y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267974"	"04214"	"00372695"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267987"	"04214"	"00372708"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268004"	"04214"	"00372725"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270501"	"04214"	"00375287"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272237"	"04214"	"00377046"	"00000"	"Familial"	"68y"	""	""	""	""	""	""	""	""	""	""	"Macular distrophy"	""
"0000272238"	"04214"	"00377047"	"00000"	"Familial"	"36y"	""	""	""	""	""	""	""	""	""	""	"Macular distrophy"	""
"0000273272"	"04214"	"00379399"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000273285"	"04214"	"00379412"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia (eoHM)"	""
"0000273286"	"04214"	"00379413"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia (eoHM)"	""
"0000273287"	"04214"	"00379414"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia (eoHM)"	""
"0000274906"	"04214"	"00381055"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis (LCA)"	""
"0000275489"	"04214"	"00381647"	"00000"	"Familial, autosomal dominant"	""	""	"31y"	""	""	""	""	""	""	""	""	"Autosomal dominant RP, adRP"	""
"0000275539"	"04214"	"00381697"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276221"	"04214"	"00382372"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Macular dystrophy unspecified"	""
"0000276870"	"04214"	"00383080"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000276876"	"04214"	"00383086"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000277544"	"04214"	"00383759"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000277630"	"04214"	"00383845"	"00000"	"Familial, autosomal dominant"	"62y"	"BCVA OD-OS: 20/30-20/25"	""	"50y"	""	""	""	""	""	""	""	""	""
"0000279989"	"04214"	"00386186"	"00000"	"Familial, autosomal dominant"	"97y"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000279990"	"04214"	"00386187"	"00000"	"Familial, autosomal dominant"	"61y"	""	""	"32y"	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000280059"	"04214"	"00386256"	"00000"	"Familial, autosomal recessive"	"61y"	""	""	"40y"	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000280090"	"04214"	"00386287"	"00000"	"Familial, autosomal dominant"	"54y"	""	""	"33y"	""	""	""	""	""	""	"retinitis pigmentosa"	"autosomal recessive retinitis pigmentosa"	""
"0000281193"	"04214"	"00387630"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	"Adult retinal dystrophy"	""
"0000285809"	"04214"	"00392562"	"00000"	"Familial, autosomal dominant"	"56y"	"best corrected visual acuity right_left eye: 20/50_, affected sector: inferior_"	"50y"	""	""	""	""	""	""	""	""	"sector retinitis pigmentosa"	""
"0000308178"	"04214"	"00416458"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308179"	"04214"	"00416459"	"00000"	"Familial, autosomal dominant"	"19y"	"asymptomatic (or presymptomatic, but he would be expected to have manifestations of RP already)"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308180"	"04214"	"00416460"	"00000"	"Familial, autosomal dominant"	""	"54y: noted decreased visual acuity; fundus: diffuse retinal pigment epithelial atrophy; 58y: diagnosis of RP was suggested by the presence in the peripheral retina of some atrophic areas and a few bone spicule-like clumps of pigment; macular degeneration was thought to be \'old cystoid macular edema\'; electroretinogram: non-recordable; best corrected visual acuity right, left eye: 20/40, 20/100"	"54y"	"58y"	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308181"	"04214"	"00416461"	"00000"	"Familial, autosomal dominant"	""	"atypical retinitis pigmentosa; 40y: best corrected visual acuity right, left eye: 20/20, 20/40; optic disks pale, one disc area zone of retinal pigment epithelial atrophy centered on fixationin in each eye; yiny drusen-like deposits most notable at the edges of the atrophic areas, right eye:a 1.5x4 disc diameter zone of retinal pigment epithelium atrophy with some clumps of pigment within the atrophic zone; no classic bone spicules; fluorescein angiography: normal choroidal filling with relative hyperfluorescence in the area of retinal pigment epithelium atrophy; electroretinography: essentially normal except for diminished light adapted responses"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308182"	"04214"	"00416462"	"00000"	"Familial, autosomal dominant"	"50y"	"38y: poor night vision and constricted visual fields; electroretinogram: nonrecordable; 50y: fundus: waxy pallor of both optic disks with very attenuated vessels,bone spicule-like pigmentation and RPE atrophy were observed extending from the main temporal arcades to the periphery, and only a small area of retinal epithelium remained unaffected. Visual acuity was 20/100 in the right eye and 20/200 in the left eye"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308183"	"04214"	"00416464"	"00000"	"Familial, autosomal dominant"	"72y"	"fundus: normal; best corrected visual acuity right, left eye: 0.4, 0.6; visual field: normal; electroretinogram, right, left eye: rod function: 133, 106; cone function: 49, 47; cone and rod function: 240, 204; electrooculogram Arden ratio: <150"	""	""	"asymptomatic"	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308184"	"04214"	"00416465"	"00000"	"Familial, autosomal dominant"	"45y"	"fundus: diffuse retinitis pigmentosa; best corrected visual acuity: finger counting; visual field: tunnel vision; electroretinogram, right, left eye: rod function: 0, 0; cone function: 8 ,7; cone and rod function: 9, 8"	"30y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308185"	"04214"	"00416466"	"00000"	"Familial, autosomal dominant"	"45y"	"fundus: diffuse retinitis pigmentosa; best corrected visual acuity: finger counting; visual field: tunnel vision; electroretinogram, right, left eye: rod function: 0, 0; cone function: 8 ,7; cone and rod function: 9, 8"	"30y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308186"	"04214"	"00416467"	"00000"	"Familial, autosomal dominant"	""	"abundant spicule-like pigmentation, a moderate waxy pallor of both optic discs and attenuated vessels; visual field: severely affected; electroretingram in photopic and scotopic conditions: abolished"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308187"	"04214"	"00416468"	"00000"	"Familial, autosomal dominant"	""	"abundant spicule-like pigmentation, a moderate waxy pallor of both optic discs and attenuated vessels; visual field: severely affected; electroretingram in photopic and scotopic conditions: abolished"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000308189"	"04214"	"00416469"	"00000"	"Familial, autosomal dominant"	"63y"	"best-corrected visual acuity: 20/25, 20/40 and remained stable in the following 2 years; history of smoking, no history of ocular trauma or inflammation; brother diagnosed with advanced neovascular age-related macular degeneration; slit-lamp examination of the anterior segment: normal; fundus: revealed healthy optic nerves with no disk pallor and normal retinal vasculature appropriate for age without significant thinning or attenuation, diffuse yellow flecks in the peripheral macula extending out into the mid-periphery; clustered, confluent patterns in the temporal macula arranged radially in the central macula; pigment stippling/mottling around the fovea; flecks autofluorescent with dark borders; spectral-domain optical coherence tomography: loss of foveal pit contour, inner retinal thickening, hyper-reflective inner limiting membrane in the left eye consistent with a developing epiretinal membrane; flecks visible as hyper-reflective deposits traversing photoreceptor layers emanating from the retinal pigment epithelium; ellipsoid zone and external limiting membrane layers are disrupted at the position of flecks, flecks of sufficient height impinged on the outer nuclear layer; microperimetry testing (10-2 visual field pattern): reduced visual sensitivity and function over flecked areas (10-16 dB); foveal fixation was stable (BCEA = 1.26 deg2) at 95.4%; full-field electroretinogram: single flash cone and 30-Hz flicker stimuli: normal waveform amplitudes and no implicit time delays indicating no generalized dysfunction of the cone system"	""	""	""	""	""	""	""	""	"late-onset pattern macular dystrophy"	"age-related macular degeneration (AMD)"	""
"0000310973"	"04214"	"00419693"	"04405"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000311000"	"04214"	"00419720"	"04405"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000311001"	"04214"	"00419721"	"04405"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000317210"	"04214"	"00426046"	"00000"	"Familial, autosomal dominant"	"27y"	"poor binocular vision from an early age; rapid decrease of visual acuity from age 24 on; uncorrected visual acuity: 0.05 with -9.50/-2.50210->0.6+ right eye and 0.02 with -9.25/-2.7525->0.6- left eye; intraocular pressure right/left eye: 15 mm Hg / 18 mm Hg; slit-lamp, anterior segment: transparent cornea, normal anterior chamber depth, round pupil, light reflex sensitivity, transparent lens; indirect ophthalmoscope examination: mottled peripheral retinal pigment epithelium, also in color fundus photographs using retinal camera; fundus changes: waxy yellow optic disc, some visible osteoclastic-like melanin in the retinal equatorial region, and the attenutation of retinal vasculature; ophthalmic AB type ultrasound scan: vitreous body turbidity and posterior vitreous detachment; macular optical coherence tomography: areflexia of nasal and temporal macula oval belt and crack-like dark cavity with low reflection in endodermis of nerve; fluorescein fundus angiography: mottled transmitted fluorescence and blocked fluorescence in peripheral retina and attenuation of retinal blood vessels; visual Įeld analysis using perimetry (Humphrey 740): central tunnel vision (about 10deg) and peripheral visual field defect; standard binocular full-field electroretinogram: did not detect any wav"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000318068"	"04214"	"00426930"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000320523"	"00112"	"00429651"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320969"	"00112"	"00430097"	"04436"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000336358"	"00198"	"00447159"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"macular dystrophy"	""
"0000336708"	"00198"	"00447509"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal recessive"	""
"0000336889"	"00198"	"00447690"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336926"	"00198"	"00447727"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"unclear diagnosis"	""
"0000340038"	"04249"	"00450983"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"central areolar choroidal dystrophy (AR)"	""


## Screenings ## Do not remove or alter this header ##
## Count = 92
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000001586"	"00001783"	"1"	"00102"	"00102"	"2013-08-08 17:35:35"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000105518"	"00105022"	"1"	"01244"	"00006"	"2017-06-16 15:57:25"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000205316"	"00204287"	"1"	"00717"	"00717"	"2018-11-07 21:47:57"	""	""	"SEQ-NG-I"	"DNA"	""	"WES"
"0000234309"	"00233210"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234310"	"00233211"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234311"	"00233212"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234312"	"00233213"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234313"	"00233214"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234314"	"00233215"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234315"	"00233216"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234316"	"00233217"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000309560"	"00308416"	"1"	"00004"	"00006"	"2020-08-26 16:56:47"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"123 gene panel"
"0000310815"	"00309670"	"1"	"00006"	"00006"	"2020-08-31 18:12:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000310981"	"00309836"	"1"	"00006"	"00006"	"2020-09-04 09:03:30"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000329616"	"00328402"	"1"	"00000"	"00006"	"2021-01-27 14:27:38"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000329617"	"00328403"	"1"	"00000"	"00006"	"2021-01-27 14:27:38"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000329618"	"00328404"	"1"	"00000"	"00006"	"2021-01-27 14:27:38"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000333601"	"00332379"	"1"	"00006"	"00006"	"2021-02-18 11:35:25"	""	""	"SEQ"	"DNA"	""	""
"0000333749"	"00332525"	"1"	"00000"	"00006"	"2021-02-20 09:48:27"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000334578"	"00333353"	"1"	"00000"	"00006"	"2021-02-25 10:13:46"	""	""	"SEQ-NG"	"DNA"	""	"132-gene panel"
"0000335660"	"00334431"	"1"	"00000"	"00006"	"2021-02-28 16:11:14"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000335793"	"00334564"	"1"	"00000"	"00006"	"2021-03-01 15:50:09"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000336722"	"00335493"	"1"	"00000"	"00006"	"2021-03-05 19:30:17"	""	""	"SEQ-NG"	"DNA"	""	"72-gene panel"
"0000336935"	"00335707"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"SEQ"	"DNA"	""	""
"0000336936"	"00335708"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"SEQ"	"DNA"	""	""
"0000336937"	"00335709"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"SEQ"	"DNA"	""	""
"0000336938"	"00335710"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"SEQ"	"DNA"	""	""
"0000336939"	"00335711"	"1"	"00008"	"00008"	"2021-03-07 20:43:50"	""	""	"SEQ"	"DNA"	""	""
"0000360205"	"00358968"	"1"	"00000"	"00006"	"2021-03-18 12:15:00"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000360213"	"00358976"	"1"	"00000"	"00006"	"2021-03-18 12:15:00"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000361833"	"00360605"	"1"	"04036"	"00006"	"2021-04-06 16:50:09"	""	""	"arraySNP;PCR;SEQ"	"DNA"	"blood"	""
"0000361834"	"00360606"	"1"	"04036"	"00006"	"2021-04-06 16:50:09"	""	""	"arraySNP;PCR;SEQ"	"DNA"	"blood"	""
"0000361835"	"00360607"	"1"	"04036"	"00006"	"2021-04-06 16:50:09"	""	""	"arraySNP;PCR;SEQ"	"DNA"	"blood"	""
"0000361836"	"00360608"	"1"	"04036"	"00006"	"2021-04-06 16:50:09"	""	""	"arraySNP;PCR;SEQ"	"DNA"	"blood"	""
"0000361837"	"00360609"	"1"	"04036"	"00006"	"2021-04-06 16:50:09"	""	""	"arraySNP;PCR;SEQ"	"DNA"	"blood"	""
"0000363489"	"00362260"	"1"	"02404"	"02404"	"2021-04-18 11:15:35"	""	""	"SEQ-NG-I"	"DNA"	""	"Exome sequencing"
"0000364601"	"00363373"	"1"	"00000"	"00006"	"2021-04-26 18:22:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000369584"	"00368356"	"1"	"01695"	"01695"	"2021-05-03 14:25:36"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000373881"	"00372649"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373900"	"00372668"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373902"	"00372670"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373915"	"00372683"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373927"	"00372695"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373940"	"00372708"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373957"	"00372725"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376484"	"00375287"	"1"	"00000"	"00006"	"2021-06-03 08:39:58"	""	""	"SEQ-NG"	"DNA"	""	"193-gene panel"
"0000378251"	"00377046"	"1"	"00000"	"00008"	"2021-06-29 06:08:50"	""	""	"arraySEQ"	"DNA"	"blood"	""
"0000378252"	"00377047"	"1"	"00000"	"00008"	"2021-06-29 06:08:50"	""	""	"arraySEQ"	"DNA"	"blood"	""
"0000380598"	"00379399"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"arraySEQ;PCR;SEQ"	"DNA"	"blood"	""
"0000380612"	"00379412"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"SEQ"	"DNA"	"blood"	"WES"
"0000380613"	"00379413"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"SEQ"	"DNA"	"blood"	"WES"
"0000380614"	"00379414"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"SEQ"	"DNA"	"blood"	"WES"
"0000380817"	"00379618"	"1"	"00000"	"00008"	"2021-08-06 03:44:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000380818"	"00379619"	"1"	"00000"	"00008"	"2021-08-06 03:44:17"	""	""	"SEQ"	"DNA"	"blood"	""
"0000382269"	"00381055"	"1"	"00000"	"00008"	"2021-08-25 12:56:54"	""	""	"SEQ"	"DNA"	"blood"	""
"0000382863"	"00381647"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382913"	"00381697"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"PCR;SEQ-NG"	"DNA"	"blood or a saliva sample"	""
"0000383586"	"00382372"	"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"
"0000384304"	"00383080"	"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"	""
"0000384984"	"00383759"	"1"	"00000"	"03840"	"2021-09-29 12:39:39"	""	""	"SEQ-NG"	"DNA"	""	""
"0000385070"	"00383845"	"1"	"00000"	"03840"	"2021-09-29 12:44:05"	""	""	"SEQ"	"DNA"	""	"retrospective analysis"
"0000387415"	"00386186"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387416"	"00386187"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387485"	"00386256"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387516"	"00386287"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000388856"	"00387630"	"1"	"00000"	"03840"	"2021-10-29 23:13:01"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000393809"	"00392562"	"1"	"00000"	"03840"	"2021-11-23 11:29:41"	""	""	"SEQ-NG"	"DNA"	"blood"	"panel of 137 genes associated with retinal dystrophies"
"0000417737"	"00416458"	"1"	"00000"	"03840"	"2022-08-31 11:23:45"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000417738"	"00416459"	"1"	"00000"	"03840"	"2022-08-31 11:23:45"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000417739"	"00416460"	"1"	"00000"	"03840"	"2022-08-31 11:23:45"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000417740"	"00416461"	"1"	"00000"	"03840"	"2022-08-31 11:23:45"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000417741"	"00416462"	"1"	"00000"	"03840"	"2022-08-31 11:23:45"	""	""	"SSCA;SEQ"	"DNA"	"blood"	""
"0000417742"	"00416464"	"1"	"00000"	"03840"	"2022-08-31 12:05:33"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000417743"	"00416465"	"1"	"00000"	"03840"	"2022-08-31 12:05:33"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000417744"	"00416466"	"1"	"00000"	"03840"	"2022-08-31 12:05:33"	""	""	"STR;SEQ"	"DNA"	"blood"	""
"0000417745"	"00416467"	"1"	"00000"	"03840"	"2022-08-31 12:18:53"	""	""	"DGGE"	"DNA"	"blood"	""
"0000417746"	"00416468"	"1"	"00000"	"03840"	"2022-08-31 12:18:53"	""	""	"DGGE"	"DNA"	"blood"	""
"0000417749"	"00416469"	"1"	"00000"	"03840"	"2022-08-31 13:36:50"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"whole-exome sequencing"
"0000420998"	"00419693"	"1"	"04405"	"00006"	"2022-10-21 12:50:15"	""	""	"MIPsm"	"DNA"	""	"smMIPs 105 iMD/AMD genes"
"0000421025"	"00419720"	"1"	"04405"	"00006"	"2022-10-21 12:50:15"	""	""	"MIPsm"	"DNA"	""	"smMIPs 105 iMD/AMD genes"
"0000421026"	"00419721"	"1"	"04405"	"00006"	"2022-10-21 12:50:15"	""	""	"MIPsm"	"DNA"	""	"smMIPs 105 iMD/AMD genes"
"0000427366"	"00426046"	"1"	"00000"	"03840"	"2022-11-26 21:04:37"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	""
"0000428250"	"00426930"	"1"	"00000"	"03840"	"2022-12-03 18:53:15"	""	""	"SEQ-NG;SEQ"	"DNA"	"saliva"	"panel-based next generation sequencing"
"0000431064"	"00429651"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431510"	"00430097"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000448736"	"00447159"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449086"	"00447509"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449267"	"00447690"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449304"	"00447727"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000452581"	"00450983"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452665"	"00451066"	"1"	"00006"	"00006"	"2024-05-31 11:39:36"	""	""	"SEQ"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 75
"{{screeningid}}"	"{{geneid}}"
"0000105518"	"CNGB3"
"0000105518"	"CRB1"
"0000105518"	"ROM1"
"0000234309"	"ROM1"
"0000234310"	"ROM1"
"0000234311"	"ROM1"
"0000234312"	"ROM1"
"0000234313"	"ROM1"
"0000234314"	"ROM1"
"0000234315"	"ROM1"
"0000234316"	"ROM1"
"0000309560"	"ROM1"
"0000310815"	"ROM1"
"0000329616"	"ROM1"
"0000329617"	"ROM1"
"0000329618"	"ROM1"
"0000333601"	"PRPH2"
"0000333601"	"ROM1"
"0000333749"	"COL11A1"
"0000333749"	"ROM1"
"0000334578"	"ROM1"
"0000335660"	"ROM1"
"0000335793"	"C8orf37"
"0000335793"	"ROM1"
"0000335793"	"TULP1"
"0000336722"	"ROM1"
"0000336935"	"ROM1"
"0000336936"	"ROM1"
"0000336937"	"ROM1"
"0000336938"	"ROM1"
"0000336939"	"ROM1"
"0000361833"	"PRPH2"
"0000361834"	"PRPH2"
"0000361835"	"PRPH2"
"0000361836"	"PRPH2"
"0000361837"	"PRPH2"
"0000364601"	"ROM1"
"0000369584"	"ABCA4"
"0000376484"	"ROM1"
"0000378251"	"ROM1"
"0000378252"	"ROM1"
"0000380598"	"ROM1"
"0000380612"	"ROM1"
"0000380613"	"ROM1"
"0000380614"	"ROM1"
"0000380817"	"ROM1"
"0000380818"	"ROM1"
"0000382269"	"ROM1"
"0000382863"	"ROM1"
"0000382913"	"PRPH2"
"0000383586"	"PRPH2"
"0000384304"	"ROM1"
"0000384310"	"ROM1"
"0000384984"	"ROM1"
"0000387415"	"ROM1"
"0000387416"	"ROM1"
"0000387485"	"USH2A"
"0000387516"	"ROM1"
"0000388856"	"ROM1"
"0000393809"	"USH2A"
"0000417737"	"ROM1"
"0000417738"	"ROM1"
"0000417739"	"ROM1"
"0000417740"	"ROM1"
"0000417741"	"ROM1"
"0000417742"	"ROM1"
"0000417743"	"ROM1"
"0000417744"	"ROM1"
"0000417745"	"ROM1"
"0000417746"	"ROM1"
"0000417749"	"ROM1"
"0000427366"	"PRPF31"
"0000428250"	"RDH12"
"0000431064"	"ROM1"
"0000431510"	"ROM1"


## 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 = 151
"{{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}}"
"0000019481"	"0"	"55"	"11"	"62380992"	"62380992"	"dup"	"0"	"00102"	"ROM1_000001"	"g.62380992dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.62613520dup"	""	"VUS"	""
"0000170965"	"0"	"70"	"11"	"62381807"	"62381807"	"subst"	"0.000113714"	"01244"	"ROM1_000002"	"g.62381807G>A"	""	"{PMID:de Castro-Miró 2016:28005958}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62614335G>A"	""	"VUS"	"ACMG"
"0000251492"	"0"	"10"	"11"	"62383716"	"62383716"	"subst"	"0"	"02326"	"B3GAT3_000015"	"g.62383716A>C"	""	""	""	"B3GAT3(NM_001288723.2):c.910-4T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62616244A>C"	""	"benign"	""
"0000251493"	"0"	"10"	"11"	"62383730"	"62383730"	"del"	"0"	"02326"	"B3GAT3_000006"	"g.62383730del"	""	""	""	"B3GAT3(NM_001288723.2):c.910-4del, B3GAT3(NM_001288723.2):c.910-4delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62616258del"	""	"benign"	""
"0000260316"	"0"	"10"	"11"	"62384066"	"62384066"	"subst"	"0.00127137"	"02329"	"B3GAT3_000007"	"g.62384066G>T"	""	""	""	"B3GAT3(NM_012200.3):c.821C>A (p.(Thr274Asn)), B3GAT3(NM_012200.4):c.821C>A (p.T274N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62616594G>T"	""	"benign"	""
"0000260317"	"0"	"30"	"11"	"62383251"	"62383251"	"subst"	"0.00142787"	"02329"	"B3GAT3_000002"	"g.62383251C>T"	""	""	""	"B3GAT3(NM_012200.4):c.930G>A (p.R310=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62615779C>T"	""	"likely benign"	""
"0000261363"	"0"	"10"	"11"	"62383715"	"62383715"	"del"	"0"	"02326"	"B3GAT3_000004"	"g.62383715del"	""	""	""	"B3GAT3(NM_001288723.1):c.910-3delC, B3GAT3(NM_001288723.2):c.910-3delC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62616243del"	""	"benign"	""
"0000263480"	"0"	"30"	"11"	"62383715"	"62383715"	"subst"	"0"	"01943"	"B3GAT3_000005"	"g.62383715G>A"	""	""	""	"B3GAT3(NM_001288723.1):c.910-3C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62616243G>A"	""	"likely benign"	""
"0000263481"	"0"	"10"	"11"	"62383715"	"62383715"	"del"	"0"	"01943"	"B3GAT3_000004"	"g.62383715del"	""	""	""	"B3GAT3(NM_001288723.1):c.910-3delC, B3GAT3(NM_001288723.2):c.910-3delC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62616243del"	""	"benign"	""
"0000263482"	"0"	"10"	"11"	"62383709"	"62383710"	"del"	"0"	"01943"	"B3GAT3_000003"	"g.62383709_62383710del"	""	""	""	"B3GAT3(NM_001288722.1):c.910_911del (p.(Leu305ArgfsTer10)), B3GAT3(NM_001288723.1):c.914_915delAG (p.E305Vfs*35), B3GAT3(NM_001288723.2):c.914_915d..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62616237_62616238del"	""	"benign"	""
"0000294884"	"0"	"50"	"11"	"62381265"	"62381265"	"subst"	"0.000265138"	"02330"	"ROM1_000008"	"g.62381265G>A"	""	""	""	"ROM1(NM_000327.4):c.512G>A (p.R171H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62613793G>A"	""	"VUS"	""
"0000294885"	"0"	"10"	"11"	"62381324"	"62381324"	"subst"	"8.34766E-5"	"02330"	"ROM1_000009"	"g.62381324G>A"	""	""	""	"ROM1(NM_000327.4):c.571G>A (p.G191S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62613852G>A"	""	"benign"	""
"0000294886"	"0"	"30"	"11"	"62381825"	"62381825"	"subst"	"0.00345175"	"02330"	"ROM1_000010"	"g.62381825G>A"	""	""	""	"ROM1(NM_000327.3):c.686G>A (p.(Arg229His)), ROM1(NM_000327.4):c.686G>A (p.R229H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62614353G>A"	""	"likely benign"	""
"0000294887"	"0"	"10"	"11"	"62380834"	"62380834"	"subst"	"0.00124262"	"02330"	"ROM1_000003"	"g.62380834G>T"	""	""	""	"ROM1(NM_000327.3):c.81G>T (p.L27=), ROM1(NM_000327.4):c.81G>T (p.L27=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62613362G>T"	""	"benign"	""
"0000297709"	"0"	"10"	"11"	"62381106"	"62381106"	"subst"	"0.985093"	"02325"	"ROM1_000007"	"g.62381106G>C"	""	""	""	"ROM1(NM_000327.4):c.353G>C (p.G118A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62613634G>C"	""	"benign"	""
"0000307196"	"0"	"30"	"11"	"62380931"	"62380931"	"subst"	"0.000210618"	"01943"	"ROM1_000004"	"g.62380931C>A"	""	""	""	"ROM1(NM_000327.3):c.178C>A (p.P60T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62613459C>A"	""	"likely benign"	""
"0000307197"	"0"	"30"	"11"	"62381076"	"62381076"	"subst"	"0.000259284"	"01943"	"ROM1_000005"	"g.62381076C>T"	""	""	""	"ROM1(NM_000327.3):c.323C>T (p.T108M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62613604C>T"	""	"likely benign"	""
"0000307198"	"0"	"90"	"11"	"62381092"	"62381092"	"del"	"0"	"01943"	"ROM1_000006"	"g.62381092del"	""	""	""	"ROM1(NM_000327.3):c.339delG (p.L114Sfs*8), ROM1(NM_000327.4):c.339delG (p.L114Sfs*8)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62613620del"	""	"pathogenic"	""
"0000322265"	"0"	"30"	"11"	"62381825"	"62381825"	"subst"	"0.00345175"	"01804"	"ROM1_000010"	"g.62381825G>A"	""	""	""	"ROM1(NM_000327.3):c.686G>A (p.(Arg229His)), ROM1(NM_000327.4):c.686G>A (p.R229H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62614353G>A"	""	"likely benign"	""
"0000322266"	"0"	"50"	"11"	"62382261"	"62382261"	"subst"	"7.71611E-5"	"01804"	"ROM1_000011"	"g.62382261G>A"	""	""	""	"ROM1(NM_000327.3):c.1006G>A (p.E336K), ROM1(NM_000327.4):c.1006G>A (p.(Glu336Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62614789G>A"	""	"VUS"	""
"0000345981"	"0"	"50"	"11"	"62382196"	"62382196"	"subst"	"0.00015837"	"02327"	"ROM1_000012"	"g.62382196G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.62614724G>A"	""	"VUS"	""
"0000434677"	"3"	"70"	"11"	"62381851"	"62381851"	"del"	"0"	"00717"	"ROM1_000013"	"g.62381851del"	""	""	""	"712delC"	""	"Germline"	""	""	"0"	""	""	"g.62614379del"	""	"pathogenic (recessive)"	""
"0000477017"	"0"	"50"	"11"	"62380800"	"62380800"	"subst"	"0.000895887"	"02591"	"ROM1_000014"	"g.62380800G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs143166696"	"0"	""	""	"g.62613328G>A"	""	"VUS"	""
"0000477018"	"3"	"50"	"11"	"62380983"	"62380983"	"subst"	"0"	"02591"	"ROM1_000015"	"g.62380983G>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62613511G>T"	""	"VUS"	""
"0000477019"	"0"	"50"	"11"	"62381083"	"62381083"	"dup"	"0"	"02591"	"ROM1_000016"	"g.62381083dup"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs527236104"	"0"	""	""	"g.62613611dup"	""	"VUS"	""
"0000477020"	"0"	"50"	"11"	"62381175"	"62381175"	"subst"	"9.36856E-5"	"02591"	"ROM1_000017"	"g.62381175T>C"	"21/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs190642059"	"0"	""	""	"g.62613703T>C"	""	"VUS"	""
"0000477021"	"0"	"50"	"11"	"62381261"	"62381261"	"subst"	"1.6559E-5"	"02591"	"ROM1_000018"	"g.62381261G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs142496524"	"0"	""	""	"g.62613789G>A"	""	"VUS"	""
"0000477022"	"0"	"50"	"11"	"62381265"	"62381265"	"subst"	"0.000265138"	"02591"	"ROM1_000008"	"g.62381265G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs150926409"	"0"	""	""	"g.62613793G>A"	""	"VUS"	""
"0000477023"	"0"	"50"	"11"	"62381744"	"62381744"	"subst"	"0"	"02591"	"ROM1_000019"	"g.62381744A>T"	"4/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62614272A>T"	""	"VUS"	""
"0000477024"	"0"	"50"	"11"	"62381863"	"62381863"	"subst"	"0.000182743"	"02591"	"ROM1_000020"	"g.62381863C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs147065010"	"0"	""	""	"g.62614391C>T"	""	"VUS"	""
"0000544753"	"0"	"50"	"11"	"62380851"	"62380851"	"subst"	"1.2338E-5"	"02327"	"B3GAT3_000010"	"g.62380851G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.62613379G>A"	""	"VUS"	""
"0000544754"	"0"	"50"	"11"	"62381092"	"62381092"	"dup"	"0"	"02330"	"B3GAT3_000011"	"g.62381092dup"	""	""	""	"ROM1(NM_000327.3):c.339dupG (p.L114Afs*18), ROM1(NM_000327.4):c.339dupG (p.L114Afs*18)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.62613620dup"	""	"VUS"	""
"0000544755"	"0"	"90"	"11"	"62381092"	"62381092"	"dup"	"0"	"01943"	"B3GAT3_000011"	"g.62381092dup"	""	""	""	"ROM1(NM_000327.3):c.339dupG (p.L114Afs*18), ROM1(NM_000327.4):c.339dupG (p.L114Afs*18)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.62613620dup"	""	"pathogenic"	""
"0000544757"	"0"	"30"	"11"	"62381934"	"62381934"	"subst"	"0"	"01943"	"B3GAT3_000013"	"g.62381934A>T"	""	""	""	"ROM1(NM_000327.3):c.795A>T (p.A265=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.62614462A>T"	""	"likely benign"	""
"0000544759"	"0"	"10"	"11"	"62383714"	"62383715"	"ins"	"0"	"01943"	"B3GAT3_000014"	"g.62383714_62383715insC"	""	""	""	"B3GAT3(NM_001288723.1):c.910-3_910-2insG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.62616242_62616243insC"	""	"benign"	""
"0000544763"	"0"	"30"	"11"	"62384066"	"62384066"	"subst"	"0.00127137"	"01804"	"B3GAT3_000007"	"g.62384066G>T"	""	""	""	"B3GAT3(NM_012200.3):c.821C>A (p.(Thr274Asn)), B3GAT3(NM_012200.4):c.821C>A (p.T274N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.62616594G>T"	""	"likely benign"	""
"0000613485"	"0"	"10"	"11"	"62382123"	"62382123"	"del"	"0.00163241"	"02330"	"B3GAT3_000024"	"g.62382123del"	""	""	""	"ROM1(NM_000327.4):c.868delC (p.Q290Kfs*26)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.62614651del"	""	"benign"	""
"0000613486"	"0"	"50"	"11"	"62383252"	"62383252"	"subst"	"4.0802E-6"	"01804"	"B3GAT3_000025"	"g.62383252C>G"	""	""	""	"B3GAT3(NM_012200.3):c.929G>C (p.(Arg310Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.62615780C>G"	""	"VUS"	""
"0000613487"	"0"	"30"	"11"	"62383709"	"62383710"	"del"	"0"	"02325"	"B3GAT3_000003"	"g.62383709_62383710del"	""	""	""	"B3GAT3(NM_001288722.1):c.910_911del (p.(Leu305ArgfsTer10)), B3GAT3(NM_001288723.1):c.914_915delAG (p.E305Vfs*35), B3GAT3(NM_001288723.2):c.914_915d..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.62616237_62616238del"	""	"likely benign"	""
"0000622656"	"0"	"50"	"11"	"62381092"	"62381092"	"del"	"0"	"02330"	"ROM1_000006"	"g.62381092del"	""	""	""	"ROM1(NM_000327.3):c.339delG (p.L114Sfs*8), ROM1(NM_000327.4):c.339delG (p.L114Sfs*8)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.62613620del"	""	"VUS"	""
"0000622657"	"0"	"30"	"11"	"62383730"	"62383730"	"del"	"0"	"02325"	"B3GAT3_000006"	"g.62383730del"	""	""	""	"B3GAT3(NM_001288723.2):c.910-4del, B3GAT3(NM_001288723.2):c.910-4delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.62616258del"	""	"likely benign"	""
"0000656826"	"0"	"50"	"11"	"62384647"	"62384647"	"subst"	"6.93481E-5"	"02325"	"B3GAT3_000027"	"g.62384647G>A"	""	""	""	"B3GAT3(NM_001288723.2):c.430C>T (p.R144W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.62617175G>A"	""	"VUS"	""
"0000679238"	"0"	"10"	"11"	"62381106"	"62381106"	"subst"	"0.985093"	"02327"	"ROM1_000007"	"g.62381106G>C"	""	""	""	"ROM1(NM_000327.4):c.353G>C (p.G118A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000684425"	"1"	"50"	"11"	"62381092"	"62381092"	"del"	"0"	"00004"	"ROM1_000006"	"g.62381092del"	""	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62613620del"	""	"VUS"	""
"0000685838"	"0"	"70"	"11"	"62381092"	"62381092"	"dup"	"0"	"00006"	"B3GAT3_000011"	"g.62381092dup"	""	"{PMID:Jinda 2014:24618324}"	""	"330_331insG"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000686129"	"0"	"50"	"11"	"62381265"	"62381265"	"subst"	"0.000265138"	"00006"	"ROM1_000008"	"g.62381265G>A"	""	"{PMID:Shah 2018:30300315}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"VUS"	""
"0000713964"	"1"	"70"	"11"	"62381095"	"62381115"	"del"	"0"	"00000"	"ROM1_000021"	"g.62381095_62381115del"	""	"{PMID:Zhou 2018:29453956}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62613623_62613643del"	""	"likely pathogenic (dominant)"	""
"0000713965"	"1"	"70"	"11"	"62381095"	"62381115"	"del"	"0"	"00000"	"ROM1_000021"	"g.62381095_62381115del"	""	"{PMID:Zhou 2018:29453956}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62613623_62613643del"	""	"likely pathogenic (dominant)"	""
"0000713966"	"1"	"70"	"11"	"62381851"	"62381852"	"del"	"2.43643E-5"	"00000"	"ROM1_000022"	"g.62381851_62381852del"	""	"{PMID:Zhou 2018:29453956}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62614379_62614380del"	""	"likely pathogenic (dominant)"	""
"0000723530"	"0"	"30"	"11"	"62381104"	"62381104"	"subst"	"0"	"01943"	"B3GAT3_000029"	"g.62381104C>T"	""	""	""	"ROM1(NM_000327.3):c.351C>T (p.V117=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000723531"	"0"	"30"	"11"	"62381150"	"62381150"	"subst"	"0.000993372"	"01943"	"B3GAT3_000030"	"g.62381150C>T"	""	""	""	"ROM1(NM_000327.3):c.397C>T (p.L133=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000723532"	"0"	"30"	"11"	"62383675"	"62383675"	"subst"	"0"	"01943"	"B3GAT3_000031"	"g.62383675T>C"	""	""	""	"B3GAT3(NM_012200.3):c.909+303A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000723533"	"0"	"10"	"11"	"62383715"	"62383715"	"subst"	"0"	"02329"	"B3GAT3_000032"	"g.62383715G>C"	""	""	""	"B3GAT3(NM_001288723.2):c.910-3C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000723534"	"0"	"30"	"11"	"62383978"	"62383978"	"subst"	"0"	"01943"	"B3GAT3_000033"	"g.62383978C>T"	""	""	""	"B3GAT3(NM_001288723.1):c.909G>A (p.R303=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000731303"	"0"	"90"	"11"	"62381092"	"62381092"	"del"	"0"	"00006"	"ROM1_000006"	"g.62381092del"	""	"{PMID:Essilfie 2018:29155698}"	""	"339delG"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000731539"	"1"	"50"	"11"	"62381851"	"62381851"	"del"	"0"	"00000"	"ROM1_000013"	"g.62381851del"	""	"{PMID:Comander 2017:28981474}"	""	"708delC"	""	"Germline"	""	""	"0"	""	""	"g.62614379del"	""	"VUS"	""
"0000732434"	"1"	"90"	"11"	"62381810"	"62381810"	"subst"	"4.06121E-5"	"00000"	"ROM1_000024"	"g.62381810C>T"	""	"{PMID:Costa 2017:28912962}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62614338C>T"	""	"pathogenic"	""
"0000734354"	"0"	"70"	"11"	"62380870"	"62380870"	"subst"	"0"	"00000"	"ROM1_000023"	"g.62380870T>G"	""	"{PMID:Huang 2017:28512305}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.62613398T>G"	""	"likely pathogenic"	""
"0000734700"	"0"	"70"	"11"	"62381092"	"62381092"	"dup"	"0"	"00000"	"B3GAT3_000011"	"g.62381092dup"	""	"{PMID:Jinda 2017:28453600}"	""	"330_331insG"	""	"Germline"	""	""	"0"	""	""	"g.62613620dup"	""	"likely pathogenic (recessive)"	""
"0000736212"	"1"	"90"	"11"	"62380931"	"62380931"	"subst"	"0.000210618"	"00000"	"ROM1_000004"	"g.62380931C>A"	""	"{PMID:Bernardis 2016:28127548}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62613459C>A"	""	"pathogenic"	""
"0000736259"	"2"	"90"	"11"	"62381076"	"62381076"	"subst"	"0.000259284"	"00000"	"ROM1_000005"	"g.62381076C>T"	""	"{PMID:Bernardis 2016:28127548}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62613604C>T"	""	"pathogenic"	""
"0000736473"	"1"	"90"	"11"	"62381092"	"62381092"	"dup"	"0"	"00008"	"B3GAT3_000011"	"g.62381092dup"	""	"{PMID:Sullivan 2006:16799052}"	""	"339insG"	"NA Digenic with RDS Leu185Pro"	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000736474"	"1"	"10"	"11"	"62381825"	"62381825"	"subst"	"0.00345175"	"00008"	"ROM1_000010"	"g.62381825G>A"	""	"{PMID:Sullivan 2006:16799052}"	""	"686G>A"	"Rare population variant"	"Germline"	"yes"	""	"0"	""	""	""	""	"benign"	""
"0000736475"	"1"	"10"	"11"	"62381841"	"62381841"	"subst"	"0.000211164"	"00008"	"ROM1_000025"	"g.62381841C>T"	""	"{PMID:Sullivan 2006:16799052}"	""	"702C>T"	"Silent substitution"	"Germline"	"yes"	""	"0"	""	""	""	""	"benign"	""
"0000736476"	"1"	"10"	"11"	"62381951"	"62381951"	"subst"	"0.00998903"	"00008"	"ROM1_000026"	"g.62381951T>C"	""	"{PMID:Sullivan 2006:16799052}"	""	"812T>C"	"Rare population variant"	"Germline"	"yes"	""	"0"	""	""	""	""	"benign"	""
"0000736477"	"1"	"10"	"11"	"62382114"	"62382114"	"subst"	"2.84257E-5"	"00008"	"ROM1_000027"	"g.62382114C>T"	""	"{PMID:Sullivan 2006:16799052}"	""	"859C>T"	""	"Germline"	"no"	""	"0"	""	""	""	""	"benign"	""
"0000760046"	"0"	"50"	"11"	"62381825"	"62381825"	"subst"	"0.00345175"	"00000"	"ROM1_000010"	"g.62381825G>A"	""	"{PMID:Tiwari 2016:27353947}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62614353G>A"	""	"VUS"	""
"0000760081"	"0"	"50"	"11"	"62380800"	"62380800"	"subst"	"0.000895887"	"00000"	"ROM1_000014"	"g.62380800G>A"	""	"{PMID:Tiwari 2016:27353947}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62613328G>A"	""	"VUS"	""
"0000764180"	"0"	"50"	"11"	"62382114"	"62382114"	"subst"	"2.84257E-5"	"02404"	"ROM1_000027"	"g.62382114C>T"	""	"{PMID:Bahena 2021:34148116}"	""	""	""	"Germline"	"?"	""	""	""	""	""	""	"VUS"	"ACMG"
"0000765466"	"1"	"70"	"11"	"62380881"	"62380881"	"subst"	"0"	"00000"	"ROM1_000028"	"g.62380881T>G"	"1/596 chromosomes"	"{PMID:Sun 2015:26747767}"	""	""	"not in 624 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.62613409T>G"	""	"likely pathogenic"	""
"0000784157"	"0"	"50"	"11"	"62381863"	"62381863"	"subst"	"0.000182743"	"00000"	"ROM1_000020"	"g.62381863C>T"	"3/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	"rs147065010"	"0"	""	""	"g.62614391C>T"	""	"VUS"	""
"0000784194"	"0"	"90"	"11"	"62381806"	"62381806"	"subst"	"4.06154E-6"	"00000"	"ROM1_000030"	"g.62381806C>T"	""	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62614334C>T"	""	"pathogenic (dominant)"	""
"0000784444"	"0"	"50"	"11"	"62380823"	"62380823"	"subst"	"1.64167E-5"	"00000"	"ROM1_000029"	"g.62380823C>T"	"3/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62613351C>T"	""	"VUS"	""
"0000784446"	"0"	"50"	"11"	"62380823"	"62380823"	"subst"	"1.64167E-5"	"00000"	"ROM1_000029"	"g.62380823C>T"	"3/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62613351C>T"	""	"VUS"	""
"0000784511"	"0"	"50"	"11"	"62381863"	"62381863"	"subst"	"0.000182743"	"00000"	"ROM1_000020"	"g.62381863C>T"	"3/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	"rs147065010"	"0"	""	""	"g.62614391C>T"	""	"VUS"	""
"0000784526"	"0"	"50"	"11"	"62380823"	"62380823"	"subst"	"1.64167E-5"	"00000"	"ROM1_000029"	"g.62380823C>T"	"3/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62613351C>T"	""	"VUS"	""
"0000784558"	"0"	"50"	"11"	"62381095"	"62381115"	"del"	"0"	"00000"	"ROM1_000021"	"g.62381095_62381115del"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	"c.337_357del21"	""	"Germline"	""	""	"0"	""	""	"g.62613623_62613643del"	""	"VUS"	""
"0000784562"	"0"	"50"	"11"	"62381863"	"62381863"	"subst"	"0.000182743"	"00000"	"ROM1_000020"	"g.62381863C>T"	"3/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	"rs147065010"	"0"	""	""	"g.62614391C>T"	""	"VUS"	""
"0000788092"	"0"	"90"	"11"	"62381092"	"62381092"	"dup"	"0"	"00000"	"B3GAT3_000011"	"g.62381092dup"	""	"{PMID:Oishi 2014:25324289}"	""	"331dupG"	""	"Germline"	""	""	"0"	""	""	"g.62613620dup"	""	"pathogenic"	""
"0000790950"	"0"	"50"	"11"	"62381825"	"62381825"	"subst"	"0.00345175"	"00000"	"ROM1_000010"	"g.62381825G>A"	""	"{PMID:Poloschek-2010:20335603}"	""	"c.686G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000790951"	"0"	"50"	"11"	"62381825"	"62381825"	"subst"	"0.00345175"	"00000"	"ROM1_000010"	"g.62381825G>A"	""	"{PMID:Poloschek-2010:20335603}"	""	"c.686G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000790952"	"0"	"50"	"11"	"62381825"	"62381825"	"subst"	"0.00345175"	"00000"	"ROM1_000010"	"g.62381825G>A"	""	"{PMID:Poloschek-2010:20335603}"	""	"c.686G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000790954"	"0"	"50"	"11"	"62381825"	"62381825"	"subst"	"0.00345175"	"00000"	"ROM1_000010"	"g.62381825G>A"	""	"{PMID:Poloschek-2010:20335603}"	""	"c.686G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000790956"	"0"	"50"	"11"	"62381825"	"62381825"	"subst"	"0.00345175"	"00000"	"ROM1_000010"	"g.62381825G>A"	""	"{PMID:Poloschek-2010:20335603}"	""	"c.686G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000790957"	"0"	"50"	"11"	"62381825"	"62381825"	"subst"	"0.00345175"	"00000"	"ROM1_000010"	"g.62381825G>A"	""	"{PMID:Poloschek-2010:20335603}"	""	"c.686G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000790958"	"0"	"50"	"11"	"62381825"	"62381825"	"subst"	"0.00345175"	"00000"	"ROM1_000010"	"g.62381825G>A"	""	"{PMID:Poloschek-2010:20335603}"	""	"c.686G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000793744"	"0"	"10"	"11"	"62381825"	"62381825"	"subst"	"0.00345175"	"00000"	"ROM1_000010"	"g.62381825G>A"	"0.00% in 360 controls"	"{PMID:Simpson-2011:21147909}"	""	"c.686G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000793764"	"0"	"70"	"11"	"62381095"	"62381115"	"del"	"0"	"00000"	"ROM1_000021"	"g.62381095_62381115del"	""	"{PMID:Zhou-2011:21677794}"	""	"c.342_362del"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000793765"	"0"	"70"	"11"	"62381095"	"62381115"	"del"	"0"	"00000"	"ROM1_000021"	"g.62381095_62381115del"	""	"{PMID:Zhou-2011:21677794}"	""	"c.342_362del"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000793766"	"0"	"70"	"11"	"62381851"	"62381852"	"del"	"2.43643E-5"	"00000"	"ROM1_000022"	"g.62381851_62381852del"	""	"{PMID:Zhou-2011:21677794}"	""	"c.712_713del"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000794015"	"0"	"90"	"11"	"62381246"	"62381247"	"ins"	"0"	"00000"	"ROM1_000031"	"g.62381246_62381247insA"	""	"{PMID:Nishiguchi-2012:22848652}"	""	"c.493_494insA"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000794016"	"0"	"90"	"11"	"62382123"	"62382123"	"del"	"0"	"00000"	"B3GAT3_000024"	"g.62382123delC"	""	"{PMID:Nishiguchi-2012:22848652}"	""	"c.868delC"	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000796013"	"0"	"50"	"11"	"62381863"	"62381863"	"subst"	"0.000182743"	"00000"	"ROM1_000020"	"g.62381863C>T"	""	"{PMID:Chen-2013:23661368}"	""	"c.724C>T"	""	"Unknown"	""	"rs147065010"	"0"	""	""	""	""	"VUS"	""
"0000796779"	"0"	"70"	"11"	"62380931"	"62380931"	"subst"	"0.000210618"	"00000"	"ROM1_000004"	"g.62380931C>A"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.178C>A"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000796781"	"0"	"70"	"11"	"62381076"	"62381076"	"subst"	"0.000259284"	"00000"	"ROM1_000005"	"g.62381076C>T"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.323C>T"	""	"Germline"	""	"rs146358003"	"0"	""	""	""	""	"likely pathogenic"	""
"0000796873"	"0"	"90"	"11"	"62380989"	"62380990"	"ins"	"8.17956E-6"	"00000"	"ROM1_000032"	"g.62380989_62380990insG"	""	"{PMID:Wang-2014:24154662}"	""	"c.236_237insG"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000797763"	"0"	"50"	"11"	"62381768"	"62381768"	"subst"	"0.000121982"	"00000"	"ROM1_000033"	"g.62381768A>T"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"PRPH2,ROM1 c.623G>A, p.(Gly208Asp), ROM1 c.629A>T, p.(Asp210Val), ABCA4 c.6230G>A, p.(Arg2077Gln)"	""	"Germline"	"?"	""	"0"	""	""	"g.62614296A>T"	""	"VUS"	"ACMG"
"0000810897"	"0"	"70"	"11"	"62382123"	"62382123"	"del"	"0.00163241"	"00000"	"B3GAT3_000024"	"g.62382123del"	""	"{PMID:Anasagasti-2013:24416769}"	""	"g.62382123C>_*"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000810913"	"0"	"70"	"11"	"62383378"	"62383378"	"del"	"0"	"00000"	"ROM1_000034"	"g.62383378delC"	""	"{PMID:Anasagasti-2013:24416769}"	""	"del2123C"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000811825"	"0"	"70"	"1"	"62381092"	"62381092"	"del"	"0"	"00000"	"ROM1_000006"	"g.62381092del"	""	"{PMID:Gao 2019:31054281}"	""	"c.331delG, p.Leu114Serfs*8"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.62613620del"	""	"likely pathogenic"	""
"0000811941"	"0"	"70"	"11"	"62381807"	"62381808"	"delins"	"0"	"00000"	"ROM1_000035"	"g.62381807_62381808delinsAC"	""	"{PMID:Hariri 2018:31047384}"	""	"p.Arg223His:c.668_669GG/AC (heterozygous, autosomal dominant)x"	""	"Germline"	"?"	""	"0"	""	""	"g.62614335_62614336delinsAC"	""	"likely pathogenic"	""
"0000815299"	"0"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"Duplication of ROM1"	"heterozygous, individual solved, variant causal"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	"ACMG"
"0000815300"	"0"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"ROM1:NM_000327 ROM1 dup, p.?"	"heterozygous, individual solved, variant causal"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	"ACMG"
"0000815400"	"0"	"70"	"11"	"0"	"0"	""	"0"	"00000"	"DRD4_000002"	"g.?"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"Duplication of ROM1"	"heterozygous, individual solved, variant causal"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	"ACMG"
"0000815517"	"0"	"50"	"11"	"62381803"	"62381803"	"subst"	"0"	"00000"	"ROM1_000036"	"g.62381803C>T"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"ROM1:NM_000327 c.C664T, p.P222S"	"heterozygous, individual solved, variant non-causal"	"Germline"	"?"	""	"0"	""	""	"g.62614331C>T"	""	"VUS"	"ACMG"
"0000817636"	"0"	"70"	"11"	"62381852"	"62381852"	"subst"	"2.84255E-5"	"00000"	"ROM1_000037"	"g.62381852T>C"	""	"{PMID:Zanolli 2020:32141364}"	""	"ROM1 c.713T>C"	"no protein change given, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.62614380T>C"	""	"likely pathogenic"	""
"0000824629"	"21"	"50"	"11"	"62380931"	"62380931"	"subst"	"0.000210618"	"00000"	"ROM1_000004"	"g.62380931C>A"	""	"{PMID:Verdina 2021:33688152}"	""	"ROM1/c.178C>A(p.Pro60Thr)"	"in cis with c.323C>T (p.Thr108Met)"	"Germline"	"yes"	""	"0"	""	""	"g.62613459C>A"	""	"VUS"	""
"0000824630"	"21"	"50"	"11"	"62381076"	"62381076"	"subst"	"0.000259284"	"00000"	"ROM1_000005"	"g.62381076C>T"	""	"{PMID:Verdina 2021:33688152}"	""	"ROM1/c.323C>T (p.Thr108Met)"	"in cis with c.178C>A (p.Pro60Thr)"	"Germline"	"yes"	""	"0"	""	""	"g.62613604C>T"	""	"VUS"	""
"0000853058"	"0"	"30"	"11"	"62380834"	"62380834"	"subst"	"0.00124262"	"01943"	"ROM1_000003"	"g.62380834G>T"	""	""	""	"ROM1(NM_000327.3):c.81G>T (p.L27=), ROM1(NM_000327.4):c.81G>T (p.L27=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000853059"	"0"	"50"	"11"	"62382261"	"62382261"	"subst"	"7.71611E-5"	"01943"	"ROM1_000011"	"g.62382261G>A"	""	""	""	"ROM1(NM_000327.3):c.1006G>A (p.E336K), ROM1(NM_000327.4):c.1006G>A (p.(Glu336Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000853060"	"0"	"30"	"11"	"62383981"	"62383981"	"subst"	"0.000113904"	"02329"	"B3GAT3_000036"	"g.62383981A>C"	""	""	""	"B3GAT3(NM_012200.4):c.906T>G (p.T302=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000877462"	"0"	"70"	"11"	"62380931"	"62380931"	"subst"	"0.000210618"	"00000"	"ROM1_000004"	"g.62380931C>A"	""	"{PMID:Bascom 1995:8595413}"	""	"ROM1 P60T TCC->TCA"	"heterozygous; two variants on the same allele, causality unknown, one of them is likely pathogenic"	"Germline"	"yes"	""	"0"	""	""	"g.62613459C>A"	""	"likely pathogenic"	""
"0000877463"	"11"	"70"	"11"	"62381076"	"62381076"	"subst"	"0.000259284"	"00000"	"ROM1_000005"	"g.62381076C>T"	""	"{PMID:Bascom 1995:8595413}"	""	"ROM1 T108M ACG->ATG"	"heterozygous; two variants on the same allele, causality unknown, one of them is likely pathogenic"	"Germline"	"yes"	""	"0"	""	""	"g.62613604C>T"	""	"likely pathogenic"	""
"0000877464"	"0"	"70"	"11"	"62380977"	"62380977"	"subst"	"0"	"00000"	"ROM1_000038"	"g.62380977G>A"	""	"{PMID:Bascom 1995:8595413}"	""	"ROM1 G75D"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.62613505G>A"	""	"likely pathogenic"	""
"0000877465"	"0"	"70"	"11"	"62381092"	"62381092"	"del"	"0"	"00000"	"ROM1_000006"	"g.62381092del"	""	"{PMID:Bascom 1995:8595413}"	""	"ROM1 L114 del1bp"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.62613620del"	""	"likely pathogenic"	""
"0000877466"	"0"	"70"	"11"	"62381864"	"62381864"	"subst"	"8.12203E-6"	"00000"	"ROM1_000039"	"g.62381864G>A"	""	"{PMID:Bascom 1995:8595413}"	""	"ROM1 R242Q"	"heterozygous"	"Unknown"	"yes"	""	"0"	""	""	"g.62614392G>A"	""	"likely pathogenic"	""
"0000877467"	"0"	"70"	"11"	"62380931"	"62380931"	"subst"	"0.000210618"	"00000"	"ROM1_000004"	"g.62380931C>A"	""	"{PMID:Bascom 1995:8595413}"	""	"ROM1 P60T TCC->TCA"	"heterozygous; two variants on the same allele, causality unknown, one of them is likely pathogenic"	"Germline"	"yes"	""	"0"	""	""	"g.62613459C>A"	""	"likely pathogenic"	""
"0000877468"	"11"	"70"	"11"	"62381076"	"62381076"	"subst"	"0.000259284"	"00000"	"ROM1_000005"	"g.62381076C>T"	""	"{PMID:Bascom 1995:8595413}"	""	"ROM1 T108M ACG->ATG"	"heterozygous; two variants on the same allele, causality unknown, one of them is likely pathogenic"	"Germline"	"yes"	""	"0"	""	""	"g.62613604C>T"	""	"likely pathogenic"	""
"0000877469"	"0"	"70"	"11"	"62380931"	"62380931"	"subst"	"0.000210618"	"00000"	"ROM1_000004"	"g.62380931C>A"	""	"{PMID:Martinez-Mir 1997:9187681}"	""	"ROM1 P60T TCC->TCA"	"heterozygous; two variants on the same allele, causality unknown, one of them is likely pathogenic"	"Germline"	"yes"	""	"0"	""	""	"g.62613459C>A"	""	"likely pathogenic"	""
"0000877470"	"21"	"70"	"11"	"62380931"	"62380931"	"subst"	"0.000210618"	"00000"	"ROM1_000004"	"g.62380931C>A"	""	"{PMID:Martinez-Mir 1997:9187681}"	""	"ROM1 P60T TCC->TCA"	"heterozygous; two variants on the same allele, causality unknown, one of them is likely pathogenic"	"Germline"	"yes"	""	"0"	""	""	"g.62613459C>A"	""	"likely pathogenic"	""
"0000877471"	"21"	"70"	"11"	"62380931"	"62380931"	"subst"	"0.000210618"	"00000"	"ROM1_000004"	"g.62380931C>A"	""	"{PMID:Martinez-Mir 1997:9187681}"	""	"ROM1 P60T TCC->TCA"	"heterozygous; two variants on the same allele, causality unknown, one of them is likely pathogenic"	"Germline"	"yes"	""	"0"	""	""	"g.62613459C>A"	""	"likely pathogenic"	""
"0000877472"	"0"	"70"	"11"	"62381076"	"62381076"	"subst"	"0.000259284"	"00000"	"ROM1_000005"	"g.62381076C>T"	""	"{PMID:Martinez-Mir 1997:9187681}"	""	"ROM1 T108M ACG->ATG"	"heterozygous; two variants on the same allele, causality unknown, one of them is likely pathogenic"	"Germline"	"yes"	""	"0"	""	""	"g.62613604C>T"	""	"likely pathogenic"	""
"0000877473"	"21"	"70"	"11"	"62381076"	"62381076"	"subst"	"0.000259284"	"00000"	"ROM1_000005"	"g.62381076C>T"	""	"{PMID:Martinez-Mir 1997:9187681}"	""	"ROM1 T108M ACG->ATG"	"heterozygous; two variants on the same allele, causality unknown, one of them is likely pathogenic"	"Germline"	"yes"	""	"0"	""	""	"g.62613604C>T"	""	"likely pathogenic"	""
"0000877474"	"21"	"70"	"11"	"62381076"	"62381076"	"subst"	"0.000259284"	"00000"	"ROM1_000005"	"g.62381076C>T"	""	"{PMID:Martinez-Mir 1997:9187681}"	""	"ROM1 T108M ACG->ATG"	"heterozygous; two variants on the same allele, causality unknown, one of them is likely pathogenic"	"Germline"	"yes"	""	"0"	""	""	"g.62613604C>T"	""	"likely pathogenic"	""
"0000877475"	"0"	"30"	"11"	"62381897"	"62381897"	"subst"	"1.21855E-5"	"00000"	"ROM1_000040"	"g.62381897G>A"	""	"{PMID:Reig 2000:10980553}"	""	"ROM1 G1796G>A, C253Y"	"obsolete nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"no"	""	"0"	""	""	"g.62614425G>A"	""	"likely benign"	""
"0000877476"	"0"	"30"	"11"	"62381897"	"62381897"	"subst"	"1.21855E-5"	"00000"	"ROM1_000040"	"g.62381897G>A"	""	"{PMID:Reig 2000:10980553}"	""	"ROM1 G1796G>A, C253Y"	"obsolete nucleotide annotation, extrapolated from protein and databases; heterozygous"	"Germline"	"no"	""	"0"	""	""	"g.62614425G>A"	""	"likely benign"	""
"0000877478"	"3"	"70"	"11"	"62381851"	"62381851"	"del"	"0"	"00000"	"ROM1_000013"	"g.62381851del"	""	"{PMID:Ma 2019:30630813}"	""	"ROM1 c.712delC (p.Leu238Cysfs*78)"	"homozygous"	"Germline"	"yes"	"rs747855165"	"0"	""	""	"g.62614379del"	""	"likely pathogenic"	""
"0000881443"	"1"	"70"	"11"	"62381073"	"62381073"	"del"	"0"	"04405"	"ROM1_000041"	"g.62381073del"	""	"{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62613601del"	""	"likely pathogenic"	"ACMG"
"0000881444"	"1"	"70"	"11"	"62381092"	"62381092"	"dup"	"0"	"04405"	"B3GAT3_000011"	"g.62381092dup"	""	"{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62613620dup"	""	"likely pathogenic"	"ACMG"
"0000881465"	"1"	"50"	"11"	"62381807"	"62381807"	"subst"	"0.000113714"	"04405"	"ROM1_000002"	"g.62381807G>A"	""	"{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62614335G>A"	""	"VUS"	"ACMG"
"0000890012"	"0"	"30"	"11"	"62382261"	"62382261"	"subst"	"7.71611E-5"	"02327"	"ROM1_000011"	"g.62382261G>A"	""	""	""	"ROM1(NM_000327.3):c.1006G>A (p.E336K), ROM1(NM_000327.4):c.1006G>A (p.(Glu336Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000904724"	"21"	"70"	"11"	"62381092"	"62381092"	"dup"	"0"	"00000"	"B3GAT3_000011"	"g.62381092dup"	""	"{PMID:Xiao 2017:28430325}"	""	"ROM1 c.330_331insG, (p.L114Afs*18)"	"heterozygous"	"Germline"	"no"	""	"0"	""	""	"g.62613620dup"	""	"likely pathogenic (dominant)"	""
"0000905938"	"0"	"50"	"11"	"62381092"	"62381092"	"dup"	"0"	"00000"	"B3GAT3_000011"	"g.62381092dup"	""	"{PMID:Zhu 2022:35456422}"	""	"ROM1 c.339dup, p.(Leu114Alafs*18)"	"heterozygous, probably non-causal incidental finding"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.62613620dup"	""	"VUS"	"ACMG"
"0000916015"	"0"	"50"	"11"	"62380754"	"62380754"	"del"	"0"	"04436"	"ROM1_000042"	"g.62380754del"	""	"{PMID:Panneman 2023:36819107}"	""	"c.1del"	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000916700"	"0"	"70"	"11"	"62381092"	"62381092"	"dup"	"0"	"04436"	"B3GAT3_000011"	"g.62381092dup"	""	"{PMID:Panneman 2023:36819107}"	""	"c.339dup"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000949733"	"0"	"50"	"11"	"62383709"	"62383710"	"del"	"0"	"01804"	"B3GAT3_000003"	"g.62383709_62383710del"	""	""	""	"B3GAT3(NM_001288722.1):c.910_911del (p.(Leu305ArgfsTer10)), B3GAT3(NM_001288723.1):c.914_915delAG (p.E305Vfs*35), B3GAT3(NM_001288723.2):c.914_915d..."	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000958560"	"0"	"50"	"11"	"62381824"	"62381824"	"subst"	"4.06081E-6"	"00006"	"ROM1_000044"	"g.62381824C>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, BP4"	"Germline"	""	""	"0"	""	""	"g.62614352C>T"	""	"VUS"	"ACMG"
"0000959288"	"0"	"50"	"11"	"62380817"	"62380817"	"subst"	"1.64247E-5"	"00006"	"ROM1_000043"	"g.62380817T>G"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2"	"Germline"	""	""	"0"	""	""	"g.62613345T>G"	""	"VUS"	"ACMG"
"0000959464"	"0"	"50"	"11"	"62381810"	"62381810"	"subst"	"4.06121E-5"	"00006"	"ROM1_000024"	"g.62381810C>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PP3, PM2; no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.62614338C>T"	""	"VUS"	"ACMG"
"0000959477"	"0"	"50"	"11"	"62382261"	"62382261"	"subst"	"7.71611E-5"	"00006"	"ROM1_000011"	"g.62382261G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, BP4; no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.62614789G>A"	""	"VUS"	"ACMG"
"0000979695"	"0"	"50"	"11"	"62382181"	"62382181"	"subst"	"4.87282E-5"	"01804"	"B3GAT3_000043"	"g.62382181A>C"	""	""	""	"ROM1(NM_000327.4):c.926A>C (p.(Tyr309Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000979696"	"0"	"30"	"11"	"62383730"	"62383730"	"del"	"0"	"01804"	"B3GAT3_000006"	"g.62383730del"	""	""	""	"B3GAT3(NM_001288723.2):c.910-4del, B3GAT3(NM_001288723.2):c.910-4delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000986564"	"1"	"70"	"11"	"62381092"	"62381092"	"dup"	"0"	"04405"	"B3GAT3_000011"	"g.62381092dup"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62613620dup"	""	"likely pathogenic"	"ACMG"
"0000986954"	"2"	"90"	"11"	"62381851"	"62381851"	"del"	"0"	"04405"	"ROM1_000013"	"g.62381851del"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.62614379del"	""	"pathogenic"	"ACMG"
"0000987010"	"0"	"70"	"11"	"62381348"	"62381351"	"del"	"0"	"00006"	"ROM1_000045"	"g.62381348_62381351del"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	"case unsolved"	"Germline"	""	""	"0"	""	""	"g.62613876_62613879del"	""	"likely pathogenic"	"ACMG"
"0000999201"	"0"	"50"	"11"	"62384144"	"62384144"	"subst"	"3.24997E-5"	"01804"	"B3GAT3_000044"	"g.62384144G>C"	""	""	""	"B3GAT3(NM_012200.3):c.743C>G (p.(Pro248Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001014851"	"0"	"30"	"11"	"62384178"	"62384178"	"subst"	"0.00124558"	"02329"	"B3GAT3_000045"	"g.62384178C>T"	""	""	""	"B3GAT3(NM_012200.4):c.709G>A (p.(Val237Met), p.V237M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001038556"	"0"	"50"	"11"	"62380817"	"62380817"	"subst"	"1.64247E-5"	"01804"	"ROM1_000043"	"g.62380817T>G"	""	""	""	"ROM1(NM_000327.4):c.64T>G (p.(Trp22Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038557"	"0"	"50"	"11"	"62381768"	"62381768"	"subst"	"0.000121982"	"01804"	"ROM1_000033"	"g.62381768A>T"	""	""	""	"ROM1(NM_000327.4):c.629A>T (p.(Asp210Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038558"	"0"	"50"	"11"	"62383201"	"62383201"	"subst"	"3.67188E-5"	"01804"	"B3GAT3_000046"	"g.62383201C>T"	""	""	""	"B3GAT3(NM_012200.4):c.980G>A (p.(Arg327Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038559"	"0"	"30"	"11"	"62384178"	"62384178"	"subst"	"0.00124558"	"01804"	"B3GAT3_000045"	"g.62384178C>T"	""	""	""	"B3GAT3(NM_012200.4):c.709G>A (p.(Val237Met), p.V237M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""


## 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 ROM1
## Count = 151
"{{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}}"
"0000019481"	"00018040"	"55"	"239"	"0"	"239"	"0"	"c.239dup"	"r.(?)"	"p.(Val81Cysfs*51)"	"1"
"0000170965"	"00018040"	"70"	"668"	"0"	"668"	"0"	"c.668G>A"	"r.(?)"	"p.(Arg223Gln)"	"2"
"0000251492"	"00018040"	"10"	"2461"	"0"	"2461"	"0"	"c.*1405A>C"	"r.(=)"	"p.(=)"	""
"0000251493"	"00018040"	"10"	"2475"	"0"	"2475"	"0"	"c.*1419del"	"r.(?)"	"p.(=)"	""
"0000260316"	"00018040"	"10"	"2811"	"0"	"2811"	"0"	"c.*1755G>T"	"r.(=)"	"p.(=)"	""
"0000260317"	"00018040"	"30"	"1996"	"0"	"1996"	"0"	"c.*940C>T"	"r.(=)"	"p.(=)"	""
"0000261363"	"00018040"	"10"	"2460"	"0"	"2460"	"0"	"c.*1404del"	"r.(?)"	"p.(=)"	""
"0000263480"	"00018040"	"30"	"2460"	"0"	"2460"	"0"	"c.*1404G>A"	"r.(=)"	"p.(=)"	""
"0000263481"	"00018040"	"10"	"2460"	"0"	"2460"	"0"	"c.*1404del"	"r.(?)"	"p.(=)"	""
"0000263482"	"00018040"	"10"	"2454"	"0"	"2455"	"0"	"c.*1398_*1399del"	"r.(=)"	"p.(=)"	""
"0000294884"	"00018040"	"50"	"512"	"0"	"512"	"0"	"c.512G>A"	"r.(?)"	"p.(Arg171His)"	""
"0000294885"	"00018040"	"10"	"571"	"0"	"571"	"0"	"c.571G>A"	"r.(?)"	"p.(Gly191Ser)"	""
"0000294886"	"00018040"	"30"	"686"	"0"	"686"	"0"	"c.686G>A"	"r.(?)"	"p.(Arg229His)"	""
"0000294887"	"00018040"	"10"	"81"	"0"	"81"	"0"	"c.81G>T"	"r.(?)"	"p.(Leu27=)"	""
"0000297709"	"00018040"	"10"	"353"	"0"	"353"	"0"	"c.353="	"r.(=)"	"p.(Ala118=)"	""
"0000307196"	"00018040"	"30"	"178"	"0"	"178"	"0"	"c.178C>A"	"r.(?)"	"p.(Pro60Thr)"	""
"0000307197"	"00018040"	"30"	"323"	"0"	"323"	"0"	"c.323C>T"	"r.(?)"	"p.(Thr108Met)"	""
"0000307198"	"00018040"	"90"	"339"	"0"	"339"	"0"	"c.339del"	"r.(?)"	"p.(Leu114SerfsTer8)"	""
"0000322265"	"00018040"	"30"	"686"	"0"	"686"	"0"	"c.686G>A"	"r.(?)"	"p.(Arg229His)"	""
"0000322266"	"00018040"	"50"	"1006"	"0"	"1006"	"0"	"c.1006G>A"	"r.(?)"	"p.(Glu336Lys)"	""
"0000345981"	"00018040"	"50"	"941"	"0"	"941"	"0"	"c.941G>A"	"r.(?)"	"p.(Gly314Glu)"	""
"0000434677"	"00018040"	"70"	"712"	"0"	"712"	"0"	"c.712del"	"r.(?)"	"p.(Leu238Cysfs*78)"	""
"0000477017"	"00018040"	"50"	"47"	"0"	"47"	"0"	"c.47G>A"	"r.(?)"	"p.(Arg16His)"	""
"0000477018"	"00018040"	"50"	"230"	"0"	"230"	"0"	"c.230G>T"	"r.(?)"	"p.(Gly77Val)"	""
"0000477019"	"00018040"	"50"	"330"	"0"	"330"	"0"	"c.330dup"	"r.(?)"	"p.(Gly111Trpfs*21)"	""
"0000477020"	"00018040"	"50"	"422"	"0"	"422"	"0"	"c.422T>C"	"r.(?)"	"p.(Leu141Ser)"	""
"0000477021"	"00018040"	"50"	"508"	"0"	"508"	"0"	"c.508G>A"	"r.(?)"	"p.(Gly170Arg)"	""
"0000477022"	"00018040"	"50"	"512"	"0"	"512"	"0"	"c.512G>A"	"r.(?)"	"p.(Arg171His)"	""
"0000477023"	"00018040"	"50"	"605"	"0"	"605"	"0"	"c.605A>T"	"r.(?)"	"p.(Asn202Ile)"	""
"0000477024"	"00018040"	"50"	"724"	"0"	"724"	"0"	"c.724C>T"	"r.(?)"	"p.(Arg242*)"	""
"0000544753"	"00018040"	"50"	"98"	"0"	"98"	"0"	"c.98G>A"	"r.(?)"	"p.(Gly33Asp)"	""
"0000544754"	"00018040"	"50"	"339"	"0"	"339"	"0"	"c.339dup"	"r.(?)"	"p.(Leu114AlafsTer18)"	""
"0000544755"	"00018040"	"90"	"339"	"0"	"339"	"0"	"c.339dup"	"r.(?)"	"p.(Leu114AlafsTer18)"	""
"0000544757"	"00018040"	"30"	"795"	"0"	"795"	"0"	"c.795A>T"	"r.(?)"	"p.(Ala265=)"	""
"0000544759"	"00018040"	"10"	"2459"	"0"	"2460"	"0"	"c.*1403_*1404insC"	"r.(=)"	"p.(=)"	""
"0000544763"	"00018040"	"30"	"2811"	"0"	"2811"	"0"	"c.*1755G>T"	"r.(=)"	"p.(=)"	""
"0000613485"	"00018040"	"10"	"868"	"0"	"868"	"0"	"c.868del"	"r.(?)"	"p.(Gln290LysfsTer26)"	""
"0000613486"	"00018040"	"50"	"1997"	"0"	"1997"	"0"	"c.*941C>G"	"r.(=)"	"p.(=)"	""
"0000613487"	"00018040"	"30"	"2454"	"0"	"2455"	"0"	"c.*1398_*1399del"	"r.(=)"	"p.(=)"	""
"0000622656"	"00018040"	"50"	"339"	"0"	"339"	"0"	"c.339del"	"r.(?)"	"p.(Leu114SerfsTer8)"	""
"0000622657"	"00018040"	"30"	"2475"	"0"	"2475"	"0"	"c.*1419del"	"r.(?)"	"p.(=)"	""
"0000656826"	"00018040"	"50"	"3392"	"0"	"3392"	"0"	"c.*2336G>A"	"r.(=)"	"p.(=)"	""
"0000679238"	"00018040"	"10"	"353"	"0"	"353"	"0"	"c.353="	"r.(=)"	"p.(Ala118=)"	""
"0000684425"	"00018040"	"50"	"339"	"0"	"339"	"0"	"c.339del"	"r.(?)"	"p.(Leu114Serfs*8)"	"1"
"0000685838"	"00018040"	"70"	"339"	"0"	"339"	"0"	"c.339dup"	"r.(?)"	"p.(Leu114Alafs*18)"	""
"0000686129"	"00018040"	"50"	"512"	"0"	"512"	"0"	"c.512G>A"	"r.(?)"	"p.(Arg171His)"	""
"0000713964"	"00018040"	"70"	"342"	"0"	"362"	"0"	"c.342_362del"	"r.(?)"	"p.(Leu115_Leu121del)"	""
"0000713965"	"00018040"	"70"	"342"	"0"	"362"	"0"	"c.342_362del"	"r.(?)"	"p.(Leu115_Leu121del)"	""
"0000713966"	"00018040"	"70"	"712"	"0"	"713"	"0"	"c.712_713del"	"r.(?)"	"p.(Leu238Valfs*17)"	""
"0000723530"	"00018040"	"30"	"351"	"0"	"351"	"0"	"c.351C>T"	"r.(?)"	"p.(Val117=)"	""
"0000723531"	"00018040"	"30"	"397"	"0"	"397"	"0"	"c.397C>T"	"r.(?)"	"p.(Leu133=)"	""
"0000723532"	"00018040"	"30"	"2420"	"0"	"2420"	"0"	"c.*1364T>C"	"r.(=)"	"p.(=)"	""
"0000723533"	"00018040"	"10"	"2460"	"0"	"2460"	"0"	"c.*1404G>C"	"r.(=)"	"p.(=)"	""
"0000723534"	"00018040"	"30"	"2723"	"0"	"2723"	"0"	"c.*1667C>T"	"r.(=)"	"p.(=)"	""
"0000731303"	"00018040"	"90"	"339"	"0"	"339"	"0"	"c.339del"	"r.(?)"	"p.(Leu114Serfs*8)"	""
"0000731539"	"00018040"	"50"	"712"	"0"	"712"	"0"	"c.712del"	"r.(?)"	"p.(Leu238Cysfs*78)"	""
"0000732434"	"00018040"	"90"	"671"	"0"	"671"	"0"	"c.671C>T"	"r.(?)"	"p.(Pro224Leu)"	""
"0000734354"	"00018040"	"70"	"117"	"0"	"117"	"0"	"c.117T>G"	"r.(?)"	"p.(Ser39Arg)"	""
"0000734700"	"00018040"	"70"	"339"	"0"	"339"	"0"	"c.339dup"	"r.(?)"	"p.(Leu114Alafs*18)"	""
"0000736212"	"00018040"	"90"	"178"	"0"	"178"	"0"	"c.178C>A"	"r.(?)"	"p.(Pro60Thr)"	"1"
"0000736259"	"00018040"	"90"	"323"	"0"	"323"	"0"	"c.323C>T"	"r.(?)"	"p.(Thr108Met)"	"1"
"0000736473"	"00018040"	"90"	"339"	"0"	"339"	"0"	"c.339dup"	"r.(?)"	"p.(Leu114Alafs*18)"	"1"
"0000736474"	"00018040"	"10"	"686"	"0"	"686"	"0"	"c.686G>A"	"r.(?)"	"p.(Arg229His)"	"2"
"0000736475"	"00018040"	"10"	"702"	"0"	"702"	"0"	"c.702C>T"	"r.(=)"	"p.(=)"	"2"
"0000736476"	"00018040"	"10"	"812"	"0"	"812"	"0"	"c.812T>C"	"r.(?)"	"p.(Met271Thr)"	"2"
"0000736477"	"00018040"	"10"	"859"	"0"	"859"	"0"	"c.859C>T"	"r.(?)"	"p.(Arg287Trp)"	"3"
"0000760046"	"00018040"	"50"	"686"	"0"	"686"	"0"	"c.686G>A"	"r.(?)"	"p.(Arg229His)"	""
"0000760081"	"00018040"	"50"	"47"	"0"	"47"	"0"	"c.47G>A"	"r.(?)"	"p.(Arg16His)"	""
"0000764180"	"00018040"	"50"	"859"	"0"	"859"	"0"	"c.859C>T"	"r.(?)"	"p.(Arg287Trp)"	"3"
"0000765466"	"00018040"	"70"	"128"	"0"	"128"	"0"	"c.128T>G"	"r.(?)"	"p.(Leu43Arg)"	""
"0000784157"	"00018040"	"50"	"724"	"0"	"724"	"0"	"c.724C>T"	"r.(?)"	"p.(Arg242Ter)"	""
"0000784194"	"00018040"	"90"	"667"	"0"	"667"	"0"	"c.667C>T"	"r.(?)"	"p.(Arg223Trp)"	""
"0000784444"	"00018040"	"50"	"70"	"0"	"70"	"0"	"c.70C>T"	"r.(?)"	"p.(Leu24Phe)"	""
"0000784446"	"00018040"	"50"	"70"	"0"	"70"	"0"	"c.70C>T"	"r.(?)"	"p.(Leu24Phe)"	""
"0000784511"	"00018040"	"50"	"724"	"0"	"724"	"0"	"c.724C>T"	"r.(?)"	"p.(Arg242Ter)"	""
"0000784526"	"00018040"	"50"	"70"	"0"	"70"	"0"	"c.70C>T"	"r.(?)"	"p.(Leu24Phe)"	""
"0000784558"	"00018040"	"50"	"337"	"0"	"357"	"0"	"c.337_357del"	"r.(?)"	"p.(Leu115_Leu121del)"	""
"0000784562"	"00018040"	"50"	"724"	"0"	"724"	"0"	"c.724C>T"	"r.(?)"	"p.(Arg242Ter)"	""
"0000788092"	"00018040"	"90"	"339"	"0"	"339"	"0"	"c.339dup"	"r.(?)"	"p.(Leu114AlafsTer18)"	""
"0000790950"	"00018040"	"50"	"686"	"0"	"686"	"0"	"c.686G>A"	"r.(?)"	"p.(Arg229His)"	"2"
"0000790951"	"00018040"	"50"	"686"	"0"	"686"	"0"	"c.686G>A"	"r.(?)"	"p.(Arg229His)"	"2"
"0000790952"	"00018040"	"50"	"686"	"0"	"686"	"0"	"c.686G>A"	"r.(?)"	"p.(Arg229His)"	"2"
"0000790954"	"00018040"	"50"	"686"	"0"	"686"	"0"	"c.686G>A"	"r.(?)"	"p.(Arg229His)"	"2"
"0000790956"	"00018040"	"50"	"686"	"0"	"686"	"0"	"c.686G>A"	"r.(?)"	"p.(Arg229His)"	"2"
"0000790957"	"00018040"	"50"	"686"	"0"	"686"	"0"	"c.686G>A"	"r.(?)"	"p.(Arg229His)"	"2"
"0000790958"	"00018040"	"50"	"686"	"0"	"686"	"0"	"c.686G>A"	"r.(?)"	"p.(Arg229His)"	"2"
"0000793744"	"00018040"	"10"	"686"	"0"	"686"	"0"	"c.686G>A"	"r.(?)"	"p.(Arg229His)"	"2"
"0000793764"	"00018040"	"70"	"342"	"0"	"362"	"0"	"c.342_362del"	"r.(?)"	"p.(Leu115_Leu121del)"	"1"
"0000793765"	"00018040"	"70"	"342"	"0"	"362"	"0"	"c.342_362del"	"r.(?)"	"p.(Leu115_Leu121del)"	"1"
"0000793766"	"00018040"	"70"	"712"	"0"	"713"	"0"	"c.712_713del"	"r.(?)"	"p.(Leu238Valfs*17)"	"2"
"0000794015"	"00018040"	"90"	"493"	"0"	"493"	"0"	"c.493dup"	"r.(?)"	"p.(Arg165Lysfs*28)"	"1"
"0000794016"	"00018040"	"90"	"868"	"0"	"868"	"0"	"c.868del"	"r.(?)"	"p.(Gln290Lysfs*26)"	"3"
"0000796013"	"00018040"	"50"	"724"	"0"	"724"	"0"	"c.724C>T"	"r.(?)"	"p.(Arg242*)"	"2"
"0000796779"	"00018040"	"70"	"178"	"0"	"178"	"0"	"c.178C>A"	"r.(?)"	"p.(Pro60Thr)"	"1"
"0000796781"	"00018040"	"70"	"323"	"0"	"323"	"0"	"c.323C>T"	"r.(?)"	"p.(Thr108Met)"	"1"
"0000796873"	"00018040"	"90"	"236"	"0"	"237"	"0"	"c.236_237insG"	"r.(?)"	"p.(Val81Cysfs*51)"	"1"
"0000797763"	"00018040"	"50"	"629"	"0"	"629"	"0"	"c.629A>T"	"r.(?)"	"p.(Asp210Val)"	""
"0000810897"	"00018040"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.?"	""
"0000810913"	"00018040"	"70"	"2123"	"0"	"2123"	"0"	"c.2123delC"	"r.(=)"	"p.(=)"	"3"
"0000811825"	"00018040"	"70"	"339"	"0"	"339"	"0"	"c.339del"	"r.(?)"	"p.(Leu114Serfs*8)"	""
"0000811941"	"00018040"	"70"	"668"	"0"	"669"	"0"	"c.668_669delinsAC"	"r.(?)"	"p.(Arg223His)"	""
"0000815299"	"00018040"	"70"	"-541"	"0"	"1337"	"0"	"c.(?_-541)_(*281_?)dup"	"r.0"	"p.0"	""
"0000815300"	"00018040"	"70"	"-541"	"0"	"1337"	"0"	"c.(?_-541)_(*281_?)dup"	"r.0"	"p.0"	""
"0000815400"	"00018040"	"70"	"-541"	"0"	"1337"	"0"	"c.(?_-541)_(*281_?)dup"	"r.0"	"p.0"	""
"0000815517"	"00018040"	"50"	"664"	"0"	"664"	"0"	"c.664C>T"	"r.(?)"	"p.(Pro222Ser)"	""
"0000817636"	"00018040"	"70"	"713"	"0"	"713"	"0"	"c.713T>C"	"r.(?)"	"p.(Leu238Pro)"	""
"0000824629"	"00018040"	"50"	"178"	"0"	"178"	"0"	"c.178C>A"	"r.(?)"	"p.(Pro60Thr)"	""
"0000824630"	"00018040"	"50"	"323"	"0"	"323"	"0"	"c.323C>T"	"r.(?)"	"p.(Thr108Met)"	""
"0000853058"	"00018040"	"30"	"81"	"0"	"81"	"0"	"c.81G>T"	"r.(?)"	"p.(Leu27=)"	""
"0000853059"	"00018040"	"50"	"1006"	"0"	"1006"	"0"	"c.1006G>A"	"r.(?)"	"p.(Glu336Lys)"	""
"0000853060"	"00018040"	"30"	"2726"	"0"	"2726"	"0"	"c.*1670A>C"	"r.(=)"	"p.(=)"	""
"0000877462"	"00018040"	"70"	"178"	"0"	"178"	"0"	"c.178C>A"	"r.(?)"	"p.(Pro60Thr)"	""
"0000877463"	"00018040"	"70"	"323"	"0"	"323"	"0"	"c.323C>T"	"r.(?)"	"p.(Thr108Met)"	""
"0000877464"	"00018040"	"70"	"224"	"0"	"224"	"0"	"c.224G>A"	"r.(?)"	"p.(Gly75Asp)"	""
"0000877465"	"00018040"	"70"	"339"	"0"	"339"	"0"	"c.339del"	"r.(?)"	"p.(Leu114Serfs*8)"	""
"0000877466"	"00018040"	"70"	"725"	"0"	"725"	"0"	"c.725G>A"	"r.(?)"	"p.(Arg242Gln)"	""
"0000877467"	"00018040"	"70"	"178"	"0"	"178"	"0"	"c.178C>A"	"r.(?)"	"p.(Pro60Thr)"	""
"0000877468"	"00018040"	"70"	"323"	"0"	"323"	"0"	"c.323C>T"	"r.(?)"	"p.(Thr108Met)"	""
"0000877469"	"00018040"	"70"	"178"	"0"	"178"	"0"	"c.178C>A"	"r.(?)"	"p.(Pro60Thr)"	""
"0000877470"	"00018040"	"70"	"178"	"0"	"178"	"0"	"c.178C>A"	"r.(?)"	"p.(Pro60Thr)"	""
"0000877471"	"00018040"	"70"	"178"	"0"	"178"	"0"	"c.178C>A"	"r.(?)"	"p.(Pro60Thr)"	""
"0000877472"	"00018040"	"70"	"323"	"0"	"323"	"0"	"c.323C>T"	"r.(?)"	"p.(Thr108Met)"	""
"0000877473"	"00018040"	"70"	"323"	"0"	"323"	"0"	"c.323C>T"	"r.(?)"	"p.(Thr108Met)"	""
"0000877474"	"00018040"	"70"	"323"	"0"	"323"	"0"	"c.323C>T"	"r.(?)"	"p.(Thr108Met)"	""
"0000877475"	"00018040"	"30"	"758"	"0"	"758"	"0"	"c.758G>A"	"r.(?)"	"p.(Cys253Tyr)"	""
"0000877476"	"00018040"	"30"	"758"	"0"	"758"	"0"	"c.758G>A"	"r.(?)"	"p.(Cys253Tyr)"	""
"0000877478"	"00018040"	"30"	"712"	"0"	"712"	"0"	"c.712delC"	"r.(?)"	"p.(Leu238Cysfs*78)"	""
"0000881443"	"00018040"	"70"	"320"	"0"	"320"	"0"	"c.320del"	"r.(?)"	"p.(Gly107Alafs*15)"	""
"0000881444"	"00018040"	"70"	"339"	"0"	"339"	"0"	"c.339dup"	"r.(?)"	"p.(Leu114Alafs*18)"	""
"0000881465"	"00018040"	"50"	"668"	"0"	"668"	"0"	"c.668G>A"	"r.(?)"	"p.(Arg223Gln)"	""
"0000890012"	"00018040"	"30"	"1006"	"0"	"1006"	"0"	"c.1006G>A"	"r.(?)"	"p.(Glu336Lys)"	""
"0000904724"	"00018040"	"70"	"339"	"0"	"339"	"0"	"c.339dupG"	"r.(?)"	"p.(Leu114Alafs*18)"	""
"0000905938"	"00018040"	"50"	"339"	"0"	"339"	"0"	"c.339dup"	"r.(?)"	"p.(Leu114Alafs*18)"	""
"0000916015"	"00018040"	"50"	"1"	"0"	"1"	"0"	"c.1del"	"r.?"	"p.(?)"	"1"
"0000916700"	"00018040"	"70"	"339"	"0"	"339"	"0"	"c.339dup"	"r.(?)"	"p.(Leu114Alafs*18)"	"1"
"0000949733"	"00018040"	"50"	"2454"	"0"	"2455"	"0"	"c.*1398_*1399del"	"r.(=)"	"p.(=)"	""
"0000958560"	"00018040"	"50"	"685"	"0"	"685"	"0"	"c.685C>T"	"r.(?)"	"p.(Arg229Cys)"	""
"0000959288"	"00018040"	"50"	"64"	"0"	"64"	"0"	"c.64T>G"	"r.(?)"	"p.(Trp22Gly)"	""
"0000959464"	"00018040"	"50"	"671"	"0"	"671"	"0"	"c.671C>T"	"r.(?)"	"p.(Pro224Leu)"	""
"0000959477"	"00018040"	"50"	"1006"	"0"	"1006"	"0"	"c.1006G>A"	"r.(?)"	"p.(Glu336Lys)"	""
"0000979695"	"00018040"	"50"	"926"	"0"	"926"	"0"	"c.926A>C"	"r.(?)"	"p.(Tyr309Ser)"	""
"0000979696"	"00018040"	"30"	"2475"	"0"	"2475"	"0"	"c.*1419del"	"r.(?)"	"p.(=)"	""
"0000986564"	"00018040"	"70"	"339"	"0"	"339"	"0"	"c.339dup"	"r.(?)"	"p.(Leu114AlafsTer18)"	"1"
"0000986954"	"00018040"	"90"	"712"	"0"	"712"	"0"	"c.712del"	"r.(?)"	"p.(Leu238CysfsTer78)"	"2"
"0000987010"	"00018040"	"70"	"590"	"5"	"590"	"8"	"c.590+5_590+8del"	"r.spl?"	"p.?"	""
"0000999201"	"00018040"	"50"	"2889"	"0"	"2889"	"0"	"c.*1833G>C"	"r.(=)"	"p.(=)"	""
"0001014851"	"00018040"	"30"	"2923"	"0"	"2923"	"0"	"c.*1867C>T"	"r.(=)"	"p.(=)"	""
"0001038556"	"00018040"	"50"	"64"	"0"	"64"	"0"	"c.64T>G"	"r.(?)"	"p.(Trp22Gly)"	""
"0001038557"	"00018040"	"50"	"629"	"0"	"629"	"0"	"c.629A>T"	"r.(?)"	"p.(Asp210Val)"	""
"0001038558"	"00018040"	"50"	"1946"	"0"	"1946"	"0"	"c.*890C>T"	"r.(=)"	"p.(=)"	""
"0001038559"	"00018040"	"30"	"2923"	"0"	"2923"	"0"	"c.*1867C>T"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 101
"{{screeningid}}"	"{{variantid}}"
"0000001586"	"0000019481"
"0000105518"	"0000170965"
"0000205316"	"0000434677"
"0000234309"	"0000477017"
"0000234310"	"0000477018"
"0000234311"	"0000477019"
"0000234312"	"0000477020"
"0000234313"	"0000477021"
"0000234314"	"0000477022"
"0000234315"	"0000477023"
"0000234316"	"0000477024"
"0000309560"	"0000684425"
"0000310815"	"0000685838"
"0000310981"	"0000686129"
"0000329616"	"0000713964"
"0000329617"	"0000713965"
"0000329618"	"0000713966"
"0000333601"	"0000731303"
"0000333749"	"0000731539"
"0000334578"	"0000732434"
"0000335660"	"0000734354"
"0000335793"	"0000734700"
"0000336722"	"0000736212"
"0000336722"	"0000736259"
"0000336935"	"0000736473"
"0000336936"	"0000736474"
"0000336937"	"0000736475"
"0000336938"	"0000736476"
"0000336939"	"0000736477"
"0000360205"	"0000760046"
"0000360213"	"0000760081"
"0000361833"	"0000790952"
"0000361834"	"0000790951"
"0000361835"	"0000790950"
"0000361836"	"0000790956"
"0000361837"	"0000790954"
"0000363489"	"0000764180"
"0000364601"	"0000765466"
"0000369584"	"0000784157"
"0000373881"	"0000784194"
"0000373900"	"0000784562"
"0000373902"	"0000784446"
"0000373915"	"0000784558"
"0000373927"	"0000784526"
"0000373940"	"0000784444"
"0000373957"	"0000784511"
"0000376484"	"0000788092"
"0000378251"	"0000790958"
"0000378252"	"0000790957"
"0000380598"	"0000793744"
"0000380612"	"0000793764"
"0000380613"	"0000793765"
"0000380614"	"0000793766"
"0000380817"	"0000794015"
"0000380818"	"0000794016"
"0000382269"	"0000796013"
"0000382863"	"0000796779"
"0000382863"	"0000796781"
"0000382913"	"0000796873"
"0000383586"	"0000797763"
"0000384304"	"0000810897"
"0000384310"	"0000810913"
"0000384984"	"0000811825"
"0000385070"	"0000811941"
"0000387415"	"0000815299"
"0000387416"	"0000815300"
"0000387485"	"0000815517"
"0000387516"	"0000815400"
"0000388856"	"0000817636"
"0000393809"	"0000824629"
"0000393809"	"0000824630"
"0000417737"	"0000877462"
"0000417737"	"0000877467"
"0000417738"	"0000877463"
"0000417738"	"0000877468"
"0000417739"	"0000877464"
"0000417740"	"0000877465"
"0000417741"	"0000877466"
"0000417742"	"0000877469"
"0000417742"	"0000877472"
"0000417743"	"0000877470"
"0000417743"	"0000877473"
"0000417744"	"0000877471"
"0000417744"	"0000877474"
"0000417745"	"0000877475"
"0000417746"	"0000877476"
"0000417749"	"0000877478"
"0000420998"	"0000881465"
"0000421025"	"0000881443"
"0000421026"	"0000881444"
"0000427366"	"0000904724"
"0000428250"	"0000905938"
"0000431064"	"0000916015"
"0000431510"	"0000916700"
"0000448736"	"0000958560"
"0000449086"	"0000959288"
"0000449267"	"0000959464"
"0000449304"	"0000959477"
"0000452581"	"0000986564"
"0000452581"	"0000986954"
"0000452665"	"0000987010"