### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = RLBP1)
# 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}}"
"RLBP1"	"retinaldehyde binding protein 1"	"15"	"q26.1"	"unknown"	"NG_008116.1"	"UD_132085378782"	""	"https://www.LOVD.nl/RLBP1"	""	"1"	"10024"	"6017"	"180090"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>Establishment 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/RLBP1_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2010-04-29 00:00:00"	"00006"	"2020-02-28 16:50:50"	"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}}"
"00017799"	"RLBP1"	"retinaldehyde binding protein 1"	"001"	"NM_000326.4"	""	"NP_000317.1"	""	""	""	"-380"	"1372"	"954"	"89764922"	"89753098"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 6
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00381"	"RD"	"dystrophy, retinal (RD)"	""	""	""	""	""	"00006"	"2014-05-09 11:59:52"	"00006"	"2015-12-07 07:11:25"
"01339"	"-"	"fundus albipunctatus (retinitis punctata albescens (RPA))"	"AD;AR"	"136880"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2019-12-17 16:27:42"
"02661"	"-"	"dystrophy, retinal, Bothnia"	"AR"	"607475"	"eyes"	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"02662"	"NFRCD"	"Newfoundland rod-cone dystrophy (NFRCD)"	""	"607476"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2016-07-05 08:24:40"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}"	"{{diseaseid}}"
"RLBP1"	"01339"
"RLBP1"	"02661"
"RLBP1"	"02662"


## Individuals ## Do not remove or alter this header ##
## Count = 191
"{{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}}"
"00033170"	""	""	""	"1"	""	"00229"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00087819"	""	""	""	"1"	""	"00229"	"{PMID:Neveling 2012:22334370}"	""	"F"	""	""	""	"0"	""	""	""	""
"00095954"	""	""	""	"1"	""	"01769"	"{PMID:Li 2017:28418496}"	""	"M"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"61064"
"00100074"	""	""	""	"1"	""	"01769"	"{PMID:Li 2017:28418496}"	""	"F"	"yes"	"Pakistan"	""	"0"	""	""	"Pakistani"	"61107"
"00155542"	""	""	""	"1"	""	"01243"	"Sharon, submitted"	""	"F"	"no"	"Israel"	""	"0"	""	""	"Arab-Muslim"	""
"00233292"	""	""	""	"4"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233293"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233294"	""	""	""	"3"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233295"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233296"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233297"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233298"	""	""	""	"46"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233299"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233300"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00246596"	""	""	""	"7"	""	"00006"	"{PMID:Katsanis 2001:11453974}"	"4-generation family, 7 affected males, unaffected non-carrier parents"	"M"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"FamKKESH-099"
"00246597"	""	""	""	"6"	""	"00006"	"{PMID:Naz 2011:21447491}"	"5-generation family, 6 affected (4F, 2M), unaffected heterozygous carrier parents/relatives"	"F;M"	"yes"	"Pakistan"	""	"0"	""	""	""	"FamPKRP064"
"00246598"	""	""	""	"1"	""	"00006"	"pathogenic (recessive) {PMID:Naz 2011:21447491}"	"4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents"	"F;M"	"yes"	"Pakistan"	""	"0"	""	""	""	"FamPKRP107"
"00307824"	""	""	""	"11"	""	"00006"	"{PMID:Al-Bdour 2020:32587456}"	"5-generation family, 11 affected (7F, 4M), unaffected heterozygous carrier parents/relatives"	"F;M"	"yes"	"Jordan"	""	"0"	""	""	""	"Fam4"
"00307825"	""	""	""	"11"	""	"00006"	"{PMID:Al-Bdour 2020:32587456}"	"5-generation family, 11 affected (5F, 6M), unaffected heterozygous carrier parents/relatives"	"F;M"	"yes"	"Jordan"	""	"0"	""	""	""	"Fam5"
"00308405"	""	""	""	"1"	""	"00004"	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	""	""	"France"	""	"0"	""	""	""	"CIC06514"
"00308550"	""	""	""	"1"	""	"00004"	"{PMID:Holtan 2020:31429209}"	"1 patient with variant in heterozygous or compound heterozygous form"	""	""	"Norway"	""	"0"	""	""	""	""
"00308623"	""	""	""	"1"	""	"00004"	"{PMID:Holtan 2020:31429209}"	"1 homozygous patient"	""	""	"Norway"	""	"0"	""	""	""	""
"00309369"	""	""	""	"2"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"2 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00309370"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00309371"	""	""	""	"2"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"2 IRD families"	""	""	"Israel"	""	"0"	""	""	""	""
"00309818"	""	""	""	"1"	""	"00006"	"{PMID:Bocquet 2013:24339724}"	"2-generation family, 1 affected"	"M"	"yes"	"France"	""	"0"	""	""	""	"RP517"
"00309823"	""	""	""	"2"	""	"00006"	"{PMID:Bocquet 2013:24339724}"	"2-generation family, 2 affected brothers"	"M"	""	"France"	""	"0"	""	""	""	"RP1682"
"00328025"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"G001296"
"00333991"	""	""	""	"1"	""	"00000"	"{PMID:Stone 2017:28559085}"	"1 affected"	"F"	""	"(United States)"	""	"0"	""	""	""	"476"
"00335390"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2018:29641573}"	""	""	""	""	""	"0"	""	""	""	"RP055"
"00362241"	""	""	""	"1"	""	"04043"	"Fadaie 2021, submitted"	""	"F"	""	"Netherlands"	""	"0"	""	""	""	"?"
"00362912"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2016:26766544}"	"family"	""	""	"Germany"	""	"0"	""	""	""	"ARRP142"
"00363578"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"09DG00114"
"00363614"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"10DG0529"
"00363724"	""	""	""	"1"	""	"00000"	"{PMID:Patel 2016:26355662}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	"12DG2641"
"00372680"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"family"	"M"	""	"China"	""	"0"	""	""	""	"RP044"
"00372724"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP302"
"00372738"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP237"
"00372752"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	""	""	""	"China"	""	"0"	""	""	""	"RP401"
"00374913"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2015:25356976}"	""	"M"	""	"China"	""	"0"	""	""	""	"F10-1"
"00374917"	""	""	""	"1"	""	"00000"	"{PMID:Huang 2015:25356976}"	""	"M"	""	"China"	""	"0"	""	""	""	"F31-1"
"00375430"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2014:25268133}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"RP#024"
"00376511"	""	""	""	"1"	""	"00000"	"{PMID:Singh 2009:19339744}"	""	""	"yes"	""	""	"0"	""	""	"Indian"	""
"00376768"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2014:25097241}"	""	"M"	""	"United States"	""	"0"	""	""	""	"30"
"00377038"	""	""	""	"1"	""	"00000"	"{PMID:Golovleva-2010:20238024}"	""	""	""	"Sweden"	""	"0"	""	""	""	""
"00377039"	""	""	""	"1"	""	"00000"	"{PMID:Golovleva-2010:20238024}"	""	""	""	"Sweden"	""	"0"	""	""	""	""
"00377040"	""	""	""	"1"	""	"00000"	"{PMID:Golovleva-2010:20238024}"	""	""	""	"Sweden"	""	"0"	""	""	""	""
"00377041"	""	""	""	"1"	""	"00000"	"{PMID:Golovleva-2010:20238024}"	""	""	""	"Sweden"	""	"0"	""	""	""	""
"00377042"	""	""	""	"1"	""	"00000"	"{PMID:Golovleva-2010:20238024}"	""	""	""	"Sweden"	""	"0"	""	""	""	""
"00377043"	""	""	""	"1"	""	"00000"	"{PMID:Golovleva-2010:20238024}"	"unaffected patient\'s mother 223:3, no signs of retinal degenerative changes"	"F"	""	"Sweden"	""	"0"	""	""	""	""
"00377044"	""	""	""	"1"	""	"00000"	"{PMID:Golovleva-2010:20238024}"	""	""	""	"Sweden"	""	"0"	""	""	""	""
"00377824"	""	""	""	"1"	""	"00000"	"{PMID:Avila Fernandez 2010:21151602}"	""	""	""	""	""	"0"	""	""	"Spanish"	""
"00379394"	""	""	""	"1"	""	"00000"	"{PMID:Collin-2011:21217109}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00379395"	""	""	""	"1"	""	"00000"	"{PMID:Collin-2011:21217109}"	""	"F"	""	"Netherlands"	""	"0"	""	""	"Marrocan"	""
"00379510"	""	""	""	"1"	""	"00000"	"{PMID:Littink-2012:22559933}"	""	"M"	""	"Morocco"	""	"0"	""	""	""	""
"00379511"	""	""	""	"1"	""	"00000"	"{PMID:Littink-2012:22559933}"	""	"M"	""	"Morocco"	""	"0"	""	""	""	""
"00379512"	""	""	""	"1"	""	"00000"	"{PMID:Littink-2012:22559933}"	""	"F"	""	"Morocco"	""	"0"	""	""	""	""
"00379513"	""	""	""	"1"	""	"00000"	"{PMID:Littink-2012:22559933}"	""	"F"	""	"Morocco"	""	"0"	""	""	""	""
"00379514"	""	""	""	"1"	""	"00000"	"{PMID:Littink-2012:22559933}"	""	"M"	""	"Morocco"	""	"0"	""	""	""	""
"00379515"	""	""	""	"1"	""	"00000"	"{PMID:Littink-2012:22559933}"	""	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00379516"	""	""	""	"1"	""	"00000"	"{PMID:Littink-2012:22559933}"	""	"F"	""	"Netherlands"	""	"0"	""	""	""	""
"00379517"	""	""	""	"1"	""	"00000"	"{PMID:Littink-2012:22559933}"	"novel mutation, The variant was heterozygously present in the parents and absent in an unaffected sibling"	"F"	""	"Netherlands"	""	"0"	""	""	""	""
"00379875"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2018:30029497}"	""	"M"	"?"	"China"	""	"0"	""	""	"Han Chinese"	"2016112801"
"00380315"	""	""	""	"2"	""	"00000"	"{PMID:Abu-Safieh-2013:23105016}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	""
"00380319"	""	""	""	"4"	""	"00000"	"{PMID:Abu-Safieh-2013:23105016}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	""
"00380376"	""	""	""	"1"	""	"00000"	"{PMID:Bocquet-2013:23350551}"	""	""	"yes"	"France"	""	"0"	""	""	""	""
"00380377"	""	""	""	"1"	""	"00000"	"{PMID:Bocquet-2013:23350551}"	""	""	"yes"	"France"	""	"0"	""	""	""	""
"00381613"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"F"	"no"	"Germany"	""	"0"	""	""	""	""
"00381681"	""	""	""	"1"	""	"00000"	"{PMID:Eisenberger-2013:24265693}"	""	"F"	"?"	"Germany"	""	"0"	""	""	""	""
"00381890"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:30543658}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"40"
"00382328"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"157"
"00382593"	""	""	""	"1"	""	"00000"	"{PMID:Jespersgaar 2019:30718709}"	""	"?"	""	"Denmark"	""	"0"	""	""	""	"455"
"00383928"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-0575"
"00384041"	""	""	""	"1"	""	"00000"	"{PMID:Martin Merida 2019:30902645}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RP-1863"
"00384748"	""	""	""	"1"	""	"00000"	"{PMID:González-del Pozo-2011:22164218}"	""	""	""	""	""	"0"	""	""	"Spanish"	""
"00385404"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2020:31872526}"	""	"F"	""	"Taiwan"	""	"0"	""	""	""	"F15-I-1"
"00389011"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 97, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"295"
"00389260"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 192, unclassified / mixed, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"544"
"00389261"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 192, unclassified / mixed, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"545"
"00389817"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 740, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1101"
"00389857"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 792, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1141"
"00390370"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	"G001296"
"00390479"	""	""	""	"1"	""	"00000"	"{PMID:Turro 2020:32581362}"	"only individuals with mutations in retinal disease genes from this publication were inserted into LOVD"	"?"	""	""	""	"0"	""	""	""	"W000139"
"00392778"	""	""	""	"1"	""	"00000"	"{PMID:Donato-2021:33801777}"	""	"M"	"yes"	"Egypt"	""	"0"	""	""	""	"II:1"
"00392779"	""	""	""	"1"	""	"00000"	"{PMID:Donato-2021:33801777}"	""	"M"	"yes"	"Egypt"	""	"0"	""	""	""	"II:2"
"00393592"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"M"	""	""	""	"0"	""	""	""	""
"00394330"	""	""	""	"1"	""	"00000"	"{PMID:Thorsteinsson 2021:33851411}"	""	"?"	""	"Iceland"	""	"0"	""	""	""	"RP12"
"00394331"	""	""	""	"1"	""	"00000"	"{PMID:Thorsteinsson 2021:33851411}"	""	"?"	""	"Iceland"	""	"0"	""	""	""	"RP13"
"00394332"	""	""	""	"1"	""	"00000"	"{PMID:Thorsteinsson 2021:33851411}"	""	"?"	""	"Iceland"	""	"0"	""	""	""	"RP14"
"00394333"	""	""	""	"1"	""	"00000"	"{PMID:Thorsteinsson 2021:33851411}"	""	"?"	""	"Iceland"	""	"0"	""	""	""	"RP15"
"00394625"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"F"	"no"	""	""	"0"	""	""	""	""
"00394626"	""	""	""	"1"	""	"00000"	"{PMID:Colombo-2020:33576794}"	""	"F"	"yes"	""	""	"0"	""	""	""	""
"00395779"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F109"
"00395864"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F276"
"00395894"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F200"
"00399219"	""	""	""	"1"	""	"00000"	"{PMID:Burstedt 1999:10102298}"	"Family 013"	"F"	"yes"	""	""	"0"	""	""	""	""
"00399220"	""	""	""	"1"	""	"00000"	"{PMID:Burstedt 1999:10102298}"	"Family 013"	"F"	"yes"	""	""	"0"	""	""	""	""
"00399221"	""	""	""	"1"	""	"00000"	"{PMID:Burstedt 1999:10102298}"	"Family 013"	"M"	""	""	""	"0"	""	""	""	""
"00399222"	""	""	""	"1"	""	"00000"	"{PMID:Burstedt 1999:10102298}"	"Family 013"	"M"	""	""	""	"0"	""	""	""	""
"00399223"	""	""	""	"1"	""	"00000"	"{PMID:Burstedt 1999:10102298}"	"Family 013"	"F"	"yes"	""	""	"0"	""	""	""	""
"00399224"	""	""	""	"1"	""	"00000"	"{PMID:Burstedt 1999:10102298}"	"Family 013"	"F"	"yes"	""	""	"0"	""	""	""	""
"00399225"	""	""	""	"1"	""	"00000"	"{PMID:Burstedt 1999:10102298}"	"Family 004"	"F"	""	""	""	"0"	""	""	""	""
"00399226"	""	""	""	"1"	""	"00000"	"{PMID:Burstedt 1999:10102298}"	"Family 004"	"F"	""	""	""	"0"	""	""	""	""
"00399227"	""	""	""	"1"	""	"00000"	"{PMID:Burstedt 1999:10102298}"	"Family 004"	"F"	""	""	""	"0"	""	""	""	""
"00399228"	""	""	""	"1"	""	"00000"	"{PMID:Burstedt 1999:10102298}"	"Family 005"	"F"	""	""	""	"0"	""	""	""	""
"00399229"	""	""	""	"1"	""	"00000"	"{PMID:Burstedt 1999:10102298}"	"Family 005"	"M"	""	""	""	"0"	""	""	""	""
"00399230"	""	""	""	"1"	""	"00000"	"{PMID:Burstedt 1999:10102298}"	"Family 009"	"F"	""	""	""	"0"	""	""	""	""
"00399231"	""	""	""	"1"	""	"00000"	"{PMID:Burstedt 1999:10102298}"	"Family 009"	"M"	""	""	""	"0"	""	""	""	""
"00399232"	""	""	""	"1"	""	"00000"	"{PMID:Burstedt 1999:10102298}"	"Family 013"	"M"	""	""	""	"0"	""	""	""	""
"00399233"	""	""	""	"1"	""	"00000"	"{PMID:Burstedt 1999:10102298}"	"Family 025"	"F"	""	""	""	"0"	""	""	""	""
"00399234"	""	""	""	"1"	""	"00000"	"{PMID:Burstedt 1999:10102298}"	"Family 039"	"F"	""	""	""	"0"	""	""	""	""
"00399235"	""	""	""	"1"	""	"00000"	"{PMID:Burstedt 1999:10102298}"	"Family 039"	"F"	""	""	""	"0"	""	""	""	""
"00399236"	""	""	""	"1"	""	"00000"	"{PMID:Burstedt 1999:10102298}"	"Family 039"	"F"	""	""	""	"0"	""	""	""	""
"00399237"	""	""	""	"1"	""	"00000"	"{PMID:Burstedt 1999:10102298}"	"Family 065"	"M"	""	""	""	"0"	""	""	""	""
"00399238"	""	""	""	"1"	""	"00000"	"{PMID:Burstedt 1999:10102298}"	"Family 065"	"F"	""	""	""	"0"	""	""	""	""
"00399277"	""	""	""	"1"	""	"00000"	"{PMID:Morimura 1999:10102299}"	""	""	"yes"	""	""	"0"	""	""	""	"003-188"
"00399278"	""	""	""	"1"	""	"00000"	"{PMID:Morimura 1999:10102299}"	""	""	""	""	""	"0"	""	""	""	"097-001"
"00399279"	""	""	""	"1"	""	"00000"	"{PMID:Maw 1997:9326942}"	""	""	"yes"	""	""	"0"	""	""	""	""
"00399280"	""	""	""	"1"	""	"00000"	"{PMID:Maw 1997:9326942}"	""	""	"yes"	""	""	"0"	""	""	""	""
"00399281"	""	""	""	"1"	""	"00000"	"{PMID:Maw 1997:9326942}"	""	""	"yes"	""	""	"0"	""	""	""	""
"00399282"	""	""	""	"1"	""	"00000"	"{PMID:Maw 1997:9326942}"	""	""	"yes"	""	""	"0"	""	""	""	""
"00399285"	""	""	""	"1"	""	"00000"	"{PMID:Granse 2001:11449319}"	""	""	""	"Sweden"	""	"0"	""	""	""	""
"00399286"	""	""	""	"1"	""	"00000"	"{PMID:Granse 2001:11449319}"	""	""	""	"Sweden"	""	"0"	""	""	""	""
"00399299"	""	""	""	"1"	""	"00000"	"{PMID:Eichers 2002:11868161}"	"First loop of NF-001, no consanguinity"	""	"no"	""	""	"0"	""	""	""	""
"00399300"	""	""	""	"1"	""	"00000"	"{PMID:Eichers 2002:11868161}"	"First loop of NF-001, no consanguinity"	""	"no"	""	""	"0"	""	""	""	""
"00399301"	""	""	""	"1"	""	"00000"	"{PMID:Eichers 2002:11868161}"	"Second loop of NF-001, no consanguinity"	""	"no"	""	""	"0"	""	""	""	""
"00399302"	""	""	""	"1"	""	"00000"	"{PMID:Eichers 2002:11868161}"	"Second loop of NF-001, no consanguinity"	""	"no"	""	""	"0"	""	""	""	""
"00399303"	""	""	""	"1"	""	"00000"	"{PMID:Eichers 2002:11868161}"	"Second loop of NF-001, no consanguinity"	""	"no"	""	""	"0"	""	""	""	""
"00399304"	""	""	""	"1"	""	"00000"	"{PMID:Eichers 2002:11868161}"	"Thrid loop of NF-001, no consanguinity"	""	"no"	""	""	"0"	""	""	""	""
"00399305"	""	""	""	"1"	""	"00000"	"{PMID:Eichers 2002:11868161}"	"Thrid loop of NF-001, no consanguinity"	""	"no"	""	""	"0"	""	""	""	""
"00399306"	""	""	""	"1"	""	"00000"	"{PMID:Eichers 2002:11868161}"	"Fourth loop of NF-001, no consanguinity"	""	"no"	""	""	"0"	""	""	""	""
"00399307"	""	""	""	"1"	""	"00000"	"{PMID:Eichers 2002:11868161}"	"Firth loop of NF-001, consanguinity (despite this, compound heterozygosity)"	""	"yes"	""	""	"0"	""	""	""	""
"00399308"	""	""	""	"1"	""	"00000"	"{PMID:Eichers 2002:11868161}"	"Family NF-003"	""	"no"	""	""	"0"	""	""	""	""
"00399309"	""	""	""	"1"	""	"00000"	"{PMID:Eichers 2002:11868161}"	"Family NF-004"	""	"no"	""	""	"0"	""	""	""	""
"00399310"	""	""	""	"1"	""	"00000"	"{PMID:Eichers 2002:11868161}"	"Family NF-004"	""	"no"	""	""	"0"	""	""	""	""
"00399311"	""	""	""	"1"	""	"00000"	"{PMID:Eichers 2002:11868161}"	"Family NF-005"	""	"no"	""	""	"0"	""	""	""	""
"00399312"	""	""	""	"1"	""	"00000"	"{PMID:Eichers 2002:11868161}"	"Family NF-005"	""	"no"	""	""	"0"	""	""	""	""
"00399313"	""	""	""	"1"	""	"00000"	"{PMID:Eichers 2002:11868161}"	"Family NF-006"	""	"yes"	""	""	"0"	""	""	""	""
"00399314"	""	""	""	"1"	""	"00000"	"{PMID:Eichers 2002:11868161}"	"Family NF-006"	""	"yes"	""	""	"0"	""	""	""	""
"00399315"	""	""	""	"1"	""	"00000"	"{PMID:Eichers 2002:11868161}"	"Family NF-006"	""	"yes"	""	""	"0"	""	""	""	""
"00399316"	""	""	""	"1"	""	"00000"	"{PMID:Eichers 2002:11868161}"	"Family NF-006"	""	"yes"	""	""	"0"	""	""	""	""
"00399317"	""	""	""	"1"	""	"00000"	"{PMID:Eichers 2002:11868161}"	"Family NF-008"	""	"yes"	""	""	"0"	""	""	""	""
"00399318"	""	""	""	"1"	""	"00000"	"{PMID:Eichers 2002:11868161}"	"Family NF-008"	""	"yes"	""	""	"0"	""	""	""	""
"00399320"	""	""	""	"1"	""	"00000"	"{PMID:Demirci 2004:15234312}"	""	""	"no"	""	""	"0"	""	""	""	"?"
"00399323"	""	""	""	"1"	""	"00000"	"{PMID:Nakamura 2005:15953459}"	""	""	"no"	""	""	"0"	""	""	""	"?"
"00399327"	""	""	""	"1"	""	"00000"	"{PMID:Humbert 2006:17065479}"	""	"M"	"yes"	"France"	""	"0"	""	""	"Moroccan"	"?"
"00399367"	""	""	""	"1"	""	"00000"	"{PMID:Kohn 2008:18344446}"	""	"M"	""	"Sweden"	""	"0"	""	""	""	"242:7"
"00399368"	""	""	""	"1"	""	"00000"	"{PMID:Kohn 2008:18344446}"	""	"F"	""	"Sweden"	""	"0"	""	""	""	"243:3"
"00399369"	""	""	""	"1"	""	"00000"	"{PMID:Kohn 2008:18344446}"	""	"M"	""	"Sweden"	""	"0"	""	""	""	"223:3"
"00399370"	""	""	""	"1"	""	"00000"	"{PMID:Kohn 2008:18344446}"	""	"F"	""	"Sweden"	""	"0"	""	""	""	"44:3"
"00399371"	""	""	""	"1"	""	"00000"	"{PMID:Kohn 2008:18344446}"	""	"F"	""	"Sweden"	""	"0"	""	""	""	"27:3"
"00399372"	""	""	""	"1"	""	"00000"	"{PMID:Kohn 2008:18344446}"	""	"F"	""	"Sweden"	""	"0"	""	""	""	"27:4"
"00399373"	""	""	""	"1"	""	"00000"	"{PMID:Kohn 2008:18344446}"	""	"F"	""	"Sweden"	""	"0"	""	""	""	"20:1"
"00399374"	""	""	""	"1"	""	"00000"	"{PMID:Kohn 2008:18344446}"	""	"M"	""	"Sweden"	""	"0"	""	""	""	"20:2"
"00399375"	""	""	""	"1"	""	"00000"	"{PMID:Kohn 2008:18344446}"	""	"F"	""	"Sweden"	""	"0"	""	""	""	"185:1"
"00399376"	""	""	""	"1"	""	"00000"	"{PMID:Kohn 2008:18344446}"	""	"M"	""	"Sweden"	""	"0"	""	""	""	"211:1"
"00399388"	""	""	""	"1"	""	"00000"	"{PMID:Nojima 2012:22171637}"	"parents from adjacent cities"	"F"	"likely"	"Japan"	""	"0"	""	""	""	"?"
"00399396"	""	""	""	"1"	""	"00000"	"{PMID:Dessalces 2013:23929416}"	""	"M"	"no"	""	""	"0"	""	""	"Morocco"	"MTP702_II-7"
"00399397"	""	""	""	"1"	""	"00000"	"{PMID:Dessalces 2013:23929416}"	""	"F"	"no"	""	""	"0"	""	""	"France"	"MTP857_II-3"
"00399398"	""	""	""	"1"	""	"00000"	"{PMID:Dessalces 2013:23929416}"	""	"F"	"no"	""	""	"0"	""	""	"France"	"MTP857_II-1"
"00399399"	""	""	""	"1"	""	"00000"	"{PMID:Dessalces 2013:23929416}"	""	"M"	"no"	""	""	"0"	""	""	"France"	"MTP1254_II-1"
"00399400"	""	""	""	"1"	""	"00000"	"{PMID:Dessalces 2013:23929416}"	""	"F"	"yes"	""	""	"0"	""	""	"Morocco"	"MTP1633_III-1"
"00399401"	""	""	""	"1"	""	"00000"	"{PMID:Dessalces 2013:23929416}"	""	"M"	"yes"	""	""	"0"	""	""	"Morocco"	"MTP1633_III-2"
"00399402"	""	""	""	"1"	""	"00000"	"{PMID:Dessalces 2013:23929416}"	""	"F"	"yes"	""	""	"0"	""	""	"Morocco"	"MTP1633_III-3"
"00399403"	""	""	""	"1"	""	"00000"	"{PMID:Dessalces 2013:23929416}"	""	"F"	"yes"	""	""	"0"	""	""	"Morocco"	"MTP1554_III-1"
"00399404"	""	""	""	"1"	""	"00000"	"{PMID:Dessalces 2013:23929416}"	""	"M"	"no"	""	""	"0"	""	""	"Morocco"	"MTP1789_II-3"
"00399405"	""	""	""	"1"	""	"00000"	"{PMID:Dessalces 2013:23929416}"	""	"F"	"yes"	""	""	"0"	""	""	"Morocco"	"MTP1838_III-6"
"00399406"	""	""	""	"1"	""	"00000"	"{PMID:Dessalces 2013:23929416}"	""	"M"	"yes"	""	""	"0"	""	""	"Morocco"	"MTP1838_IV-1"
"00399507"	""	""	""	"1"	""	"00000"	"{PMID:Hipp 2015:25429852}"	"Family 1, brother of P2"	"M"	""	""	""	"0"	""	""	"Germany"	"P1"
"00399508"	""	""	""	"1"	""	"00000"	"{PMID:Hipp 2015:25429852}"	"Family 1, brother of P1"	"M"	""	""	""	"0"	""	""	"Germany"	"P2"
"00399509"	""	""	""	"1"	""	"00000"	"{PMID:Hipp 2015:25429852}"	""	"F"	""	""	""	"0"	""	""	"Germany"	"P3"
"00399510"	""	""	""	"1"	""	"00000"	"{PMID:Hipp 2015:25429852}"	"Family 2, sister of P4"	"F"	""	""	""	"0"	""	""	"Germany"	"P4"
"00399511"	""	""	""	"1"	""	"00000"	"{PMID:Hipp 2015:25429852}"	"Family 2, brother of P5"	"M"	""	""	""	"0"	""	""	"Germany"	"P5"
"00399512"	""	""	""	"1"	""	"00000"	"{PMID:Hipp 2015:25429852}"	""	"M"	""	""	""	"0"	""	""	"Germany"	"P6"
"00399513"	""	""	""	"1"	""	"00000"	"{PMID:Hipp 2015:25429852}"	""	"M"	""	""	""	"0"	""	""	"Germany"	"P7"
"00399517"	""	""	""	"1"	""	"00000"	"{PMID:Scimone 2017:28764803}"	""	"F"	"no"	"Italy"	""	"0"	""	""	"Sicilian"	"?"
"00399520"	""	""	""	"1"	""	"00000"	"{PMID:Bagheri 2020:28827498}"	""	"F"	"yes"	""	""	"0"	""	""	"Iranian"	"?"
"00399521"	""	""	""	"1"	""	"00000"	"{PMID:Lima-de-Carvalho 2020:32188692}"	""	"F"	""	""	""	"0"	""	""	""	"II-1"
"00399522"	""	""	""	"1"	""	"00000"	"{PMID:Lima-de-Carvalho 2020:32188692}"	""	"F"	""	""	""	"0"	""	""	""	"II-2"
"00399523"	""	""	""	"1"	""	"00000"	"{PMID:Torres-Costa 2020:32345050}"	""	"F"	"likely"	"Portugal"	""	"0"	""	""	"white"	"II-1"
"00419719"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}"	""	"M"	""	""	""	"0"	""	""	""	"070904"
"00420457"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F109"
"00420512"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F200"
"00420566"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F276"
"00426928"	""	""	""	"1"	""	"00000"	"{PMID:Zhu 2022:35456422}"	"family 31, individual 37"	"F"	""	""	""	"0"	""	""	""	"31_37"
"00426943"	""	""	""	"1"	""	"00000"	"{PMID:Zhu 2022:35456422}"	"family 47, individual 56"	"M"	""	""	""	"0"	""	""	""	"47_56"
"00429930"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00430051"	""	""	""	"1"	""	"04436"	"{PMID:Panneman 2023:36819107}"	""	"F"	""	""	""	"0"	""	""	""	""
"00446989"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"ARRP-436"
"00447584"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"SRP-371"
"00447684"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient"	"M"	""	"Germany"	""	"0"	""	""	""	"MDS-456"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 192
"{{individualid}}"	"{{diseaseid}}"
"00033170"	"04214"
"00087819"	"04214"
"00095954"	"00381"
"00100074"	"00381"
"00155542"	"01339"
"00233292"	"04214"
"00233293"	"04214"
"00233294"	"04214"
"00233295"	"04214"
"00233296"	"04214"
"00233297"	"04214"
"00233298"	"04214"
"00233299"	"04214"
"00233300"	"04214"
"00246596"	"01339"
"00246597"	"01339"
"00246598"	"01339"
"00307824"	"00198"
"00307824"	"04214"
"00307825"	"04214"
"00308405"	"04214"
"00308550"	"04214"
"00308623"	"04214"
"00309369"	"04214"
"00309370"	"04214"
"00309371"	"04214"
"00309818"	"04214"
"00309823"	"04214"
"00328025"	"04214"
"00333991"	"04214"
"00335390"	"04214"
"00362241"	"04214"
"00362912"	"04214"
"00363578"	"04214"
"00363614"	"04214"
"00363724"	"04214"
"00372680"	"04214"
"00372724"	"04214"
"00372738"	"04214"
"00372752"	"04214"
"00374913"	"04214"
"00374917"	"04214"
"00375430"	"04214"
"00376511"	"04214"
"00376768"	"04214"
"00377038"	"04214"
"00377039"	"04214"
"00377040"	"04214"
"00377041"	"04214"
"00377042"	"04214"
"00377043"	"04214"
"00377044"	"04214"
"00377824"	"04214"
"00379394"	"04214"
"00379395"	"04214"
"00379510"	"04214"
"00379511"	"04214"
"00379512"	"04214"
"00379513"	"04214"
"00379514"	"04214"
"00379515"	"04214"
"00379516"	"04214"
"00379517"	"04214"
"00379875"	"04214"
"00380315"	"04214"
"00380319"	"04214"
"00380376"	"04214"
"00380377"	"04214"
"00381613"	"04214"
"00381681"	"04214"
"00381890"	"04214"
"00382328"	"04214"
"00382593"	"04214"
"00383928"	"04214"
"00384041"	"04214"
"00384748"	"04214"
"00385404"	"04214"
"00389011"	"04214"
"00389260"	"04214"
"00389261"	"04214"
"00389817"	"04214"
"00389857"	"04214"
"00390370"	"04214"
"00390479"	"04214"
"00392778"	"04214"
"00392779"	"04214"
"00393592"	"04214"
"00394330"	"04214"
"00394331"	"04214"
"00394332"	"04214"
"00394333"	"04214"
"00394625"	"04214"
"00394626"	"04214"
"00395779"	"04214"
"00395864"	"04214"
"00395894"	"04214"
"00399219"	"04214"
"00399220"	"04214"
"00399221"	"04214"
"00399222"	"04214"
"00399223"	"04214"
"00399224"	"04214"
"00399225"	"04214"
"00399226"	"04214"
"00399227"	"04214"
"00399228"	"04214"
"00399229"	"04214"
"00399230"	"04214"
"00399231"	"04214"
"00399232"	"04214"
"00399233"	"04214"
"00399234"	"04214"
"00399235"	"04214"
"00399236"	"04214"
"00399237"	"04214"
"00399238"	"04214"
"00399277"	"04214"
"00399278"	"04214"
"00399279"	"04214"
"00399280"	"04214"
"00399281"	"04214"
"00399282"	"04214"
"00399285"	"04214"
"00399286"	"04214"
"00399299"	"04214"
"00399300"	"04214"
"00399301"	"04214"
"00399302"	"04214"
"00399303"	"04214"
"00399304"	"04214"
"00399305"	"04214"
"00399306"	"04214"
"00399307"	"04214"
"00399308"	"04214"
"00399309"	"04214"
"00399310"	"04214"
"00399311"	"04214"
"00399312"	"04214"
"00399313"	"04214"
"00399314"	"04214"
"00399315"	"04214"
"00399316"	"04214"
"00399317"	"04214"
"00399318"	"04214"
"00399320"	"04214"
"00399323"	"04214"
"00399327"	"04214"
"00399367"	"04214"
"00399368"	"04214"
"00399369"	"04214"
"00399370"	"04214"
"00399371"	"04214"
"00399372"	"04214"
"00399373"	"04214"
"00399374"	"04214"
"00399375"	"04214"
"00399376"	"04214"
"00399388"	"04214"
"00399396"	"04214"
"00399397"	"04214"
"00399398"	"04214"
"00399399"	"04214"
"00399400"	"04214"
"00399401"	"04214"
"00399402"	"04214"
"00399403"	"04214"
"00399404"	"04214"
"00399405"	"04214"
"00399406"	"04214"
"00399507"	"04214"
"00399508"	"04214"
"00399509"	"04214"
"00399510"	"04214"
"00399511"	"04214"
"00399512"	"04214"
"00399513"	"04214"
"00399517"	"04214"
"00399520"	"04214"
"00399521"	"04214"
"00399522"	"04214"
"00399523"	"04214"
"00419719"	"04214"
"00420457"	"04214"
"00420512"	"04214"
"00420566"	"04214"
"00426928"	"04214"
"00426943"	"04214"
"00429930"	"04214"
"00430051"	"04214"
"00446989"	"00198"
"00447584"	"00198"
"00447684"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00381, 01339, 02661, 02662, 04214
## Count = 182
"{{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}}"
"0000026599"	"04214"	"00033170"	"00229"	"Unknown"	"4y"	"retinal degeneration, severe, early onset (EOSRD)"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000067350"	"04214"	"00087819"	"00229"	"Unknown"	""	"Retinal degeneration, severe, early onset (eosrd)"	"4y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000074232"	"00381"	"00095954"	"01769"	"Familial, autosomal recessive"	""	"Fundus Albipunctatus, stationary"	""	""	""	""	""	""	""	""	""	""	""
"0000078315"	"00381"	"00100074"	"01769"	"Familial, autosomal recessive"	""	"Fundus Albipunctatus, stationary"	""	""	""	""	""	""	""	""	""	""	""
"0000128042"	"01339"	"00155542"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"RPA"	""
"0000186453"	"01339"	"00246596"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""
"0000186454"	"01339"	"00246597"	"00006"	"Familial, autosomal recessive"	""	"SEE PAPER; ..."	""	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""
"0000186455"	"01339"	"00246598"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"fundus albipunctatus"	""
"0000233264"	"04214"	"00307824"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"RPA"	"retinitis pigmentosa"	""
"0000233265"	"04214"	"00307825"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"RPA"	"retinitis pigmentosa"	""
"0000233832"	"04214"	"00308405"	"00004"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000233978"	"04214"	"00308550"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000234051"	"04214"	"00308623"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000234689"	"04214"	"00309369"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234690"	"04214"	"00309370"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"fundus albipunctata"	""
"0000234691"	"04214"	"00309371"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"RAA"	""
"0000235132"	"04214"	"00309818"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000235137"	"04214"	"00309823"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000246252"	"04214"	"00328025"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000252176"	"04214"	"00333991"	"00000"	"Familial, autosomal recessive"	"18y"	"clinical category IA2f"	""	""	""	""	""	""	""	""	""	"congenital stationary night blindness"	""
"0000253336"	"04214"	"00335390"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000257655"	"04214"	"00362241"	"04043"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000258278"	"04214"	"00362912"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""
"0000258928"	"04214"	"00363578"	"00000"	"Isolated (sporadic)"	""	"non-syndromic"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, cone-rod dystrophy"	""
"0000258964"	"04214"	"00363614"	"00000"	"Familial"	""	"non-syndromic"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, cone-rod dystrophy"	""
"0000259074"	"04214"	"00363724"	"00000"	"Isolated (sporadic)"	""	"syndromic"	""	""	""	""	""	""	""	""	""	"fundus flavimaculatus, epilepsy"	""
"0000267959"	"04214"	"00372680"	"00000"	"Familial, X-linked"	"10y"	"see paper; ..."	"<10y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268003"	"04214"	"00372724"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268017"	"04214"	"00372738"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000268031"	"04214"	"00372752"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270123"	"04214"	"00374913"	"00000"	"Familial, autosomal recessive"	"23y"	"best corrected visual acuity 0.25/0.2"	"5y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270127"	"04214"	"00374917"	"00000"	"Isolated (sporadic)"	"20y"	"best corrected visual acuity 0.8/0.8"	"10y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270644"	"04214"	"00375430"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000271718"	"04214"	"00376511"	"00000"	"Familial, autosomal recessive"	""	"typical RP"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000271979"	"04214"	"00376768"	"00000"	"Familial, autosomal recessive"	"37y"	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272229"	"04214"	"00377038"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bothnia dystrophy"	""
"0000272230"	"04214"	"00377039"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bothnia dystrophy"	""
"0000272231"	"04214"	"00377040"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bothnia dystrophy"	""
"0000272232"	"04214"	"00377041"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bothnia dystrophy"	""
"0000272233"	"04214"	"00377042"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Bothnia dystrophy"	""
"0000272234"	"04214"	"00377043"	"00000"	"Familial, autosomal dominant"	"61y"	""	""	""	""	""	""	""	""	""	""	"Bothnia dystrophy"	""
"0000272235"	"04214"	"00377044"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Bothnia dystrophy"	""
"0000272970"	"04214"	"00377824"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Juvenile Retinitis pigmentaria"	""
"0000273267"	"04214"	"00379394"	"00000"	"Unknown"	"53y"	""	"41y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000273268"	"04214"	"00379395"	"00000"	"Unknown"	"32y"	"night blindness and progressive retinal degeneration"	"24y"	""	""	""	""	""	""	""	""	"retinitis punctata albescens (RPA)"	""
"0000273383"	"04214"	"00379510"	"00000"	"Familial, autosomal recessive"	"65y"	"Pale optic disc, severely attenuated vasculature, chorioretinal atrophy throughout retina, intraretinal (bone- spicule) pigmentations. Subretinal pigmentations in macula."	""	""	""	""	""	""	""	""	""	"retinitis punctata albescens (RPA)"	""
"0000273384"	"04214"	"00379511"	"00000"	"Familial, autosomal recessive"	"9y"	"Normal optic disc, normal vasculature, white dots scattered throughout mid- periphery."	"4y"	""	""	""	""	""	""	""	""	"retinitis punctata albescens (RPA)"	""
"0000273385"	"04214"	"00379512"	"00000"	"Familial, autosomal recessive"	"32y"	"Normal optic disc, narrow vasculature, small pigmentary changes and small white dots throughout mid-periphery."	"24y"	""	""	""	""	""	""	""	""	"retinitis punctata albescens (RPA)"	""
"0000273386"	"04214"	"00379513"	"00000"	"Familial, autosomal recessive"	"22y"	"Normal optic disc, normal vasculature, typical white dots throughout peripheral retina."	"19y"	""	""	""	""	""	""	""	""	"retinitis punctata albescens (RPA)"	""
"0000273387"	"04214"	"00379514"	"00000"	"Unknown"	"33y"	"Normal optic disc, narrow vasculature, granular aspect of macula, white dots in peripheral retina. Subtle pigment alterations in periphery."	"26y"	""	""	""	""	""	""	""	""	"retinitis punctata albescens (RPA)"	""
"0000273388"	"04214"	"00379515"	"00000"	"Unknown"	"15y"	"Normal disc, normal vessels, mottled pigmentation in mid-periphery, some small yellow- white punctate lesions in posterior pole and periphery."	"9y"	""	""	""	""	""	""	""	""	"retinitis punctata albescens (RPA)"	""
"0000273389"	"04214"	"00379516"	"00000"	"Unknown"	"16y"	"Normal optic disc, normal vessels, pigment mottling in the mid-periphery, some small, yellow-white punctate lesions in the peripheral retina (not very numerous)."	"11y"	""	""	""	""	""	""	""	""	"retinitis punctata albescens (RPA)"	""
"0000273390"	"04214"	"00379517"	"00000"	"Familial, autosomal recessive"	"22y"	"Normal optic disc, narrow vasculature, multiple white dots mostly in mid- periphery, irregular macular reflexes, atrophy of the RPE in periphery."	"9y"	""	""	""	""	""	""	""	""	"Fundus albipunctatus (FAP)with cone dystrophy"	""
"0000273729"	"04214"	"00379875"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000274166"	"04214"	"00380315"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"leber congenital amaurosis (LCA)"	""
"0000274170"	"04214"	"00380319"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000274227"	"04214"	"00380376"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000274228"	"04214"	"00380377"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000275455"	"04214"	"00381613"	"00000"	"Familial, autosomal dominant"	""	""	"71y"	""	""	""	""	""	""	""	""	"Autosomal dominant RP, adRP"	""
"0000275523"	"04214"	"00381681"	"00000"	"Isolated (sporadic)"	""	""	"27y"	""	""	""	""	""	""	""	""	"Autosomal recessive retinitis pigmentosa, arRP"	""
"0000275732"	"04214"	"00381890"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000276177"	"04214"	"00382328"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000276442"	"04214"	"00382593"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277713"	"04214"	"00383928"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000277826"	"04214"	"00384041"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa"	""
"0000278531"	"04214"	"00384748"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa (RP)"	""
"0000279200"	"04214"	"00385404"	"00000"	"Isolated (sporadic)"	"49y"	"49"	""	""	""	""	""	""	""	""	"Retinitis punctata albescens"	"Retinitis punctata albescens"	""
"0000282552"	"04214"	"00389011"	"00000"	"Isolated (sporadic)"	"27y"	"age at genetic diagnosis mentioned"	""	"21y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000282801"	"04214"	"00389260"	"00000"	"Familial, autosomal recessive"	"66y"	"age at genetic diagnosis mentioned"	""	"60y"	""	""	""	""	""	""	"unclassified / mixed"	""	""
"0000282802"	"04214"	"00389261"	"00000"	"Familial, autosomal recessive"	"74y"	"age at genetic diagnosis mentioned"	""	"68y"	""	""	""	""	""	""	"unclassified / mixed"	""	""
"0000283358"	"04214"	"00389817"	"00000"	"Isolated (sporadic)"	"14y"	"age at genetic diagnosis mentioned"	""	"6y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283398"	"04214"	"00389857"	"00000"	"Isolated (sporadic)"	"39y"	"age at genetic diagnosis mentioned"	""	"32y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283908"	"04214"	"00390370"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000284017"	"04214"	"00390479"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"retinal disease"	"retinal disease"	""
"0000286024"	"04214"	"00392778"	"00000"	"Unknown"	"4y"	""	""	""	""	""	""	""	""	""	"Retinitis punctata albescens"	"Retinitis punctata albescens"	""
"0000286025"	"04214"	"00392779"	"00000"	"Unknown"	"3y"	""	""	""	""	""	""	""	""	""	"Retinitis punctata albescens"	"Retinitis punctata albescens"	""
"0000286798"	"04214"	"00393592"	"00000"	"Isolated (sporadic)"	"11y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Punctata Albescens (RPA)"	""
"0000287534"	"04214"	"00394330"	"00000"	"Familial, autosomal recessive"	""	"Early-onset RP, ERG consistent with RP"	"20y"	""	""	""	""	""	""	""	"retinits pigmentosa"	""	""
"0000287535"	"04214"	"00394331"	"00000"	"Familial, autosomal recessive"	""	"Early-onset RP, ERG consistent with RP"	"20y"	""	""	""	""	""	""	""	"retinits pigmentosa"	""	""
"0000287536"	"04214"	"00394332"	"00000"	"Familial, autosomal recessive"	""	"RP,"	"<30y"	""	""	""	""	""	""	""	"retinits pigmentosa"	""	""
"0000287537"	"04214"	"00394333"	"00000"	"Familial, autosomal recessive"	""	"Early-onset RP, ERG consistent with RP"	""	"24y"	""	""	""	""	""	""	"retinits pigmentosa"	""	""
"0000287828"	"04214"	"00394625"	"00000"	"Familial, autosomal recessive"	"68y"	""	"1y"	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000287829"	"04214"	"00394626"	"00000"	"Familial, autosomal recessive"	"25y"	""	""	""	""	""	""	""	""	""	""	"Nonsyndromic retinitis pigmentosa"	""
"0000288941"	"04214"	"00395779"	"00000"	"Unknown"	"83y"	""	"60y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000289026"	"04214"	"00395864"	"00000"	"Unknown"	"20y1m"	""	"8y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000289056"	"04214"	"00395894"	"00000"	"Unknown"	"18y4m"	""	"1y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000292331"	"04214"	"00399219"	"00000"	"Familial, autosomal recessive"	"49y"	""	""	""	"night blindness"	""	""	""	""	""	"Bothnia Dystrophy"	""	""
"0000292332"	"04214"	"00399220"	"00000"	"Familial, autosomal recessive"	"39y"	""	""	""	"night blindness"	""	""	""	""	""	"Bothnia Dystrophy"	""	""
"0000292333"	"04214"	"00399221"	"00000"	"Familial, autosomal recessive"	""	""	""	""	"night blindness"	""	""	""	""	""	"Bothnia Dystrophy"	""	""
"0000292334"	"04214"	"00399222"	"00000"	"Familial, autosomal recessive"	"49y"	""	""	""	"night blindness"	""	""	""	""	""	"Bothnia Dystrophy"	""	""
"0000292335"	"04214"	"00399223"	"00000"	"Familial, autosomal recessive"	"23y"	""	""	""	"night blindness"	""	""	""	""	""	"Bothnia Dystrophy"	""	""
"0000292336"	"04214"	"00399224"	"00000"	"Familial, autosomal recessive"	""	""	""	""	"night blindness"	""	""	""	""	""	"Bothnia Dystrophy"	""	""
"0000292337"	"04214"	"00399225"	"00000"	"Familial, autosomal recessive"	""	""	""	""	"night blindness"	""	""	""	""	""	"Bothnia Dystrophy"	""	""
"0000292338"	"04214"	"00399226"	"00000"	"Familial, autosomal recessive"	""	""	""	""	"night blindness"	""	""	""	""	""	"Bothnia Dystrophy"	""	""
"0000292339"	"04214"	"00399227"	"00000"	"Familial, autosomal recessive"	""	""	""	""	"night blindness"	""	""	""	""	""	"Bothnia Dystrophy"	""	""
"0000292340"	"04214"	"00399228"	"00000"	"Familial, autosomal recessive"	""	""	""	""	"night blindness"	""	""	""	""	""	"Bothnia Dystrophy"	""	""
"0000292341"	"04214"	"00399229"	"00000"	"Familial, autosomal recessive"	""	""	""	""	"night blindness"	""	""	""	""	""	"Bothnia Dystrophy"	""	""
"0000292342"	"04214"	"00399230"	"00000"	"Familial, autosomal recessive"	""	""	""	""	"night blindness"	""	""	""	""	""	"Bothnia Dystrophy"	""	""
"0000292343"	"04214"	"00399231"	"00000"	"Familial, autosomal recessive"	""	""	""	""	"night blindness"	""	""	""	""	""	"Bothnia Dystrophy"	""	""
"0000292344"	"04214"	"00399232"	"00000"	"Familial, autosomal recessive"	""	""	""	""	"night blindness"	""	""	""	""	""	"Bothnia Dystrophy"	""	""
"0000292345"	"04214"	"00399233"	"00000"	"Familial, autosomal recessive"	""	""	""	""	"night blindness"	""	""	""	""	""	"Bothnia Dystrophy"	""	""
"0000292346"	"04214"	"00399234"	"00000"	"Familial, autosomal recessive"	""	""	""	""	"night blindness"	""	""	""	""	""	"Bothnia Dystrophy"	""	""
"0000292347"	"04214"	"00399235"	"00000"	"Familial, autosomal recessive"	""	""	""	""	"night blindness"	""	""	""	""	""	"Bothnia Dystrophy"	""	""
"0000292348"	"04214"	"00399236"	"00000"	"Familial, autosomal recessive"	""	""	""	""	"night blindness"	""	""	""	""	""	"Bothnia Dystrophy"	""	""
"0000292349"	"04214"	"00399237"	"00000"	"Familial, autosomal recessive"	""	""	""	""	"night blindness"	""	""	""	""	""	"Bothnia Dystrophy"	""	""
"0000292350"	"04214"	"00399238"	"00000"	"Familial, autosomal recessive"	""	""	""	""	"night blindness"	""	""	""	""	""	"Bothnia Dystrophy"	""	""
"0000292387"	"04214"	"00399277"	"00000"	"Familial, autosomal recessive"	""	"small yellow deposits at the level of the retinal pigment epithelium across the fundus"	""	""	""	""	""	""	""	""	"Retinitis Punctata Albescens"	""	""
"0000292388"	"04214"	"00399278"	"00000"	"Familial, autosomal recessive"	""	"small yellow deposits at the level of the retinal pigment epithelium across the fundus"	""	""	""	""	""	""	""	""	"Retinitis Punctata Albescens"	""	""
"0000292389"	"04214"	"00399279"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Retinitis Punctata Albescens"	""	""
"0000292390"	"04214"	"00399280"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Retinitis Punctata Albescens"	""	""
"0000292391"	"04214"	"00399281"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Retinitis Punctata Albescens"	""	""
"0000292392"	"04214"	"00399282"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Retinitis Punctata Albescens"	""	""
"0000292402"	"04214"	"00399285"	"00000"	"Familial, autosomal recessive"	"10y"	"see paper"	""	""	""	""	""	""	""	""	"Bothnia Dystrophy"	""	""
"0000292403"	"04214"	"00399286"	"00000"	"Familial, autosomal recessive"	"11y"	"see paper"	""	""	""	""	""	""	""	""	"Bothnia Dystrophy"	""	""
"0000292415"	"04214"	"00399299"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Newfoundland rod-cone dystrophy"	""	""
"0000292416"	"04214"	"00399300"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Newfoundland rod-cone dystrophy"	""	""
"0000292417"	"04214"	"00399301"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Newfoundland rod-cone dystrophy"	""	""
"0000292418"	"04214"	"00399302"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Newfoundland rod-cone dystrophy"	""	""
"0000292419"	"04214"	"00399303"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Newfoundland rod-cone dystrophy"	""	""
"0000292420"	"04214"	"00399304"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Newfoundland rod-cone dystrophy"	""	""
"0000292421"	"04214"	"00399305"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Newfoundland rod-cone dystrophy"	""	""
"0000292422"	"04214"	"00399306"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Newfoundland rod-cone dystrophy"	""	""
"0000292423"	"04214"	"00399307"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Newfoundland rod-cone dystrophy"	""	""
"0000292424"	"04214"	"00399308"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Newfoundland rod-cone dystrophy"	""	""
"0000292425"	"04214"	"00399309"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Newfoundland rod-cone dystrophy"	""	""
"0000292426"	"04214"	"00399310"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Newfoundland rod-cone dystrophy"	""	""
"0000292427"	"04214"	"00399311"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Newfoundland rod-cone dystrophy"	""	""
"0000292428"	"04214"	"00399312"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Newfoundland rod-cone dystrophy"	""	""
"0000292429"	"04214"	"00399313"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Newfoundland rod-cone dystrophy"	""	""
"0000292430"	"04214"	"00399314"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Newfoundland rod-cone dystrophy"	""	""
"0000292431"	"04214"	"00399315"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Newfoundland rod-cone dystrophy"	""	""
"0000292432"	"04214"	"00399316"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Newfoundland rod-cone dystrophy"	""	""
"0000292433"	"04214"	"00399317"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Newfoundland rod-cone dystrophy"	""	""
"0000292434"	"04214"	"00399318"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Newfoundland rod-cone dystrophy"	""	""
"0000292436"	"04214"	"00399320"	"00000"	"Familial, autosomal recessive"	"17y"	"At 14y: refractive error; no night blindness; no family history of RP; best corrected visual acuity both eyes: 20/20; intraocular pressures and anterior segment findings: normal; funduscopy: extensive subretinal yellow-white dots along the vascular arcades and retinal pigment epithelium changes in the mid and far peripheries; full-field electroretinography: markedly diminished scotopic and mildly reduced photopic responses, with normal implicit times; 16-17y: enlarged blind spots and mild constriction of peripheral vision; 17y: the midperipheral retinas showed progressive areas of retinal pigment epithelium atrophy with continued presence of yellow-white dots in the perimacular areas and far peripheries"	""	""	""	""	""	""	""	""	"Newfoundland rod-cone dystrophy"	""	""
"0000292440"	"04214"	"00399323"	"00000"	"Familial, autosomal recessive"	"18y"	"numerous tiny white dots with diffuse retinal mottling in retinal pigment epithelium throughout the fundus except for the macula in both eyes;  best-corrected visual acuity right (BCVA)(OD) /left (OS) eye 1.2/0; visual fields:normal; standardized full-field electroretinography: nonrecordable rod and cone ERGs as well as the bright-flash mixed rod-cone ERGs; electrooculographic ratio 1.4 OD and 1.2 OS. 18y: BCVA 0.25 OD /0.13 OS; macular degeneration was present bilaterally; fluorescein angiography: granular hyperfluorescence throughout the fundi except in the macula, window defects in the areas corresponding to the macular atrophy; central scotomas of 5 to 10 degrees in both eyes (OU) by Goldmann kinetic perimetry using the I-4e target; EOG ratio was reduced to 1.1 OU; optical coherence tomography: diffuse retinal thinning in the macular area, especially the outer nuclear layer; border between the inner and outer segments of the photoreceptors was blurred, suggesting that the degenerative changes occurred mainly in the outer retinal layer; thickness of the retinal nerve fiber layer appeared normal"	"6y"	""	"night blindness"	""	""	""	""	""	"Retinitis Punctata Albescens"	""	""
"0000292444"	"04214"	"00399327"	"00000"	"Familial, autosomal recessive"	"24y"	"12y: poor distance sight. 24y: severe reading impairment and photophobia; visual acuity right/left eye 10/200 / counting fingers; refraction 1.50(1.25; 75°) / 2.25(1.25; 120°); fundus: many tiny white dots around the fovea and beyond the vascular arcades; retinal vessels slightly narrowed, no pigment deposits, optic discs not pale; Fluorescein angiography: a cystoid macular edema; Goldmann perimetry: some degree of peripheral visual field loss that predominated in the right eye, and an absolute central scotoma that was larger in the left eye; full-field electroretinography: with the patient wearing contact lenses - no rod responses, but highly attenuated mixed rod–cone responses and pure cone responses at 30-Hz flickers were still recordable; dark adaptometry: no rod adaptation after 30 min"	"6y"	""	"night blindness"	""	""	""	""	""	"Retinitis Punctata Albescens"	""	""
"0000292478"	"04214"	"00399367"	"00000"	"Familial, autosomal recessive"	"7y"	"peripheral degeneration, visual acuity right/left eye: 0.9/0.9, retinitis punctata albescens absent, -"	""	""	""	""	""	""	""	""	"Bothnia dystrophy"	""	""
"0000292479"	"04214"	"00399368"	"00000"	"Familial, autosomal recessive"	"27y"	"peripheral degeneration, visual acuity right/left eye: 0.7/1.0, retinitis punctata albescens present, subtle mottling of the macula"	""	""	""	""	""	""	""	""	"Bothnia dystrophy"	""	""
"0000292480"	"04214"	"00399369"	"00000"	"Familial, autosomal recessive"	"31y"	"peripheral degeneration, visual acuity right/left eye: 0.1/0.1, retinitis punctata albescens present, subtle mottling of the macula"	""	""	""	""	""	""	""	""	"Bothnia dystrophy"	""	""
"0000292481"	"04214"	"00399370"	"00000"	"Familial, autosomal recessive"	"34y"	"peripheral degeneration, visual acuity right/left eye: counting fingers 2.5m/0.2, retinitis punctata albescens present, subtle mottling of the macula"	""	""	""	""	""	""	""	""	"Bothnia dystrophy"	""	""
"0000292482"	"04214"	"00399371"	"00000"	"Familial, autosomal recessive"	"44y"	"peripheral degeneration, visual acuity right/left eye: 0.1/0.2, retinitis punctata albescens absent, subtle mottling of the macula"	""	""	""	""	""	""	""	""	"Bothnia dystrophy"	""	""
"0000292483"	"04214"	"00399372"	"00000"	"Familial, autosomal recessive"	"51y"	"peripheral degeneration, visual acuity right/left eye: hand movements/counting fingers 1m, retinitis punctata albescens absent, areolar atrophy of the macula"	""	""	""	""	""	""	""	""	"Bothnia dystrophy"	""	""
"0000292484"	"04214"	"00399373"	"00000"	"Familial, autosomal recessive"	"64y"	"peripheral degeneration, visual acuity right/left eye: counting fingers 0.2m/0.05, retinitis punctata albescens absent, areolar atrophy of the macula"	""	""	""	""	""	""	""	""	"Bothnia dystrophy"	""	""
"0000292485"	"04214"	"00399374"	"00000"	"Familial, autosomal recessive"	"52y"	"peripheral degeneration, visual acuity right/left eye: counting fingers 1.5m/counting fingers 1.5m, retinitis punctata albescens absent, areolar atrophy of the macula"	""	""	""	""	""	""	""	""	"Bothnia dystrophy"	""	""
"0000292486"	"04214"	"00399375"	"00000"	"Familial, autosomal recessive"	"69y"	"peripheral degeneration, visual acuity right/left eye: hand movements/0.25, retinitis punctata albescens absent, areolar atrophy of the macula"	""	""	""	""	""	""	""	""	"Bothnia dystrophy"	""	""
"0000292487"	"04214"	"00399376"	"00000"	"Familial, autosomal recessive"	"84y"	"peripheral degeneration, visual acuity right/left eye: light perception/light perception, retinitis punctata albescens absent, areolar atrophy of the macula"	""	""	""	""	""	""	""	""	"Bothnia dystrophy"	""	""
"0000292499"	"04214"	"00399388"	"00000"	"Familial, autosomal recessive"	"31y"	"Ophthalmoscopy: numerous small white dots in the posterior pole of both eyes; electroretinography: a- and b-waves of the single flash ERGs severely reduced after a standard 30min of dark-adaptation, the amplitudes of both waves increased markedly after 24hr of dark-adaptation. The visual disturbances and visual field scotomas became more evident in her twenties; best-corrected visual acuity right/left eye: 0.2/0.5 OS at 31y. Fundus examinations showed macular degeneration in both eyes"	""	"6y"	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000292507"	"04214"	"00399396"	"00000"	"Familial, autosomal recessive"	"31y"	"night blindness 6y, photophobia, peripheral vision impairment, refraction and visual acuity right/left eye:+1.00 (-0.50; 90°) CF, 1 m +1.25 (-1.00; 105°) CF, 1"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000292508"	"04214"	"00399397"	"00000"	"Familial, autosomal recessive"	"27y"	"night blindness 2y, no photophobia, no peripheral vision impairment, refraction and visual acuity right/left eye:+3.50 (-0.75; 170°) CF, 1 m +3.75 (-1.00; 40°) 0"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000292509"	"04214"	"00399398"	"00000"	"Familial, autosomal recessive"	"32y"	"night blindness always present by medical history, photophobia, no peripheral vision impairment, refraction and visual acuity right/left eye:+0.25 (-2.00; 25°) 0.4 -0.25 (-1.25; 180°) 0"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000292510"	"04214"	"00399399"	"00000"	"Familial, autosomal recessive"	"13y"	"night blindness 5y, photophobia 12y, no peripheral vision impairment, refraction and visual acuity right/left eye:+1.75 (-3.50; 175°) 1.2 +1.25 (-4.00; 180°) 1"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000292511"	"04214"	"00399400"	"00000"	"Familial, autosomal recessive"	"39y"	"night blindness always present by medical history, photophobia always present by medical history, no peripheral vision impairment, refraction and visual acuity right/left eye:+1.00 (-1.50; 15°) 0.8 +1.00 (-1.25; 135°) 1"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000292512"	"04214"	"00399401"	"00000"	"Familial, autosomal recessive"	"32y"	"night blindness always present by medical history, photophobia always present by medical history, no peripheral vision impairment, refraction and visual acuity right/left eye:(-2.25; 5°)c 0.3 -0.50 (-2.00; 180°) 0"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000292513"	"04214"	"00399402"	"00000"	"Familial, autosomal recessive"	"29y"	"night blindness always present by medical history, photophobia always present by medical history, no peripheral vision impairment, refraction and visual acuity right/left eye:-4.00 (-2.75; 10°) 0.5 -3.50 (-1.50; 150°) 0"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000292514"	"04214"	"00399403"	"00000"	"Familial, autosomal recessive"	"4y"	"night blindness 3y, no photophobia, no peripheral vision impairment, refraction and visual acuity right/left eye:+3.25 (-0.75; 15°) 0.5 +2.75 (-0.75; 10°) 0"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000292515"	"04214"	"00399404"	"00000"	"Familial, autosomal recessive"	"3y"	"night blindness 2y, no photophobia, no peripheral vision impairment, refraction and visual acuity right/left eye:+3.50 (-0.50; 175°) 0.8 +3.50 (-0.50; 15°) 0"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000292516"	"04214"	"00399405"	"00000"	"Familial, autosomal recessive"	"22y"	"night blindness always present by medical history, no photophobia, no peripheral vision impairment, refraction and visual acuity right/left eye:-2.25 (-2.50; 15°) 0.7 -1.25 (-2.50; 155°) 0"	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000292517"	"04214"	"00399406"	"00000"	"Familial, autosomal recessive"	"33y"	"night blindness 3y, photophobia 14y, peripheral vision impairment at 22y, refraction and visual acuity right/left eye:+2.50 (-1.50; 165°) 0.05 +2.00 (-1.75; 175°) 0."	""	""	""	""	""	""	""	""	"retinitis punctata albescens"	""	""
"0000292612"	"04214"	"00399507"	"00000"	"Familial, autosomal recessive"	"60y"	"Snellen best corrected visual acuity right/left eye: 0.8/0.6, kinetic visual field with target III4e: visual field constriction, remaining field of 4050 right eye and 3768 deg2 left eye, full-field electroretinography: nondetectable, funduscopic findings: mottling of peripheral pigment epithelium, sharply demarcated choroidal atrophy, foveal thickness (μm) right/left eye: 132/135, color vision: moderate color confusions with no specific axi"	""	""	""	""	""	""	""	""	"Mild Newfoundland rod-cone dystrophy"	""	""
"0000292613"	"04214"	"00399508"	"00000"	"Familial, autosomal recessive"	"68y"	"Snellen best corrected visual acuity right/left eye: 0.7/0.6, kinetic visual field with target III4e: visual field constriction, remaining field of 9372 right eye and 7277 deg2 left eye, full-field electroretinography: nondetectable scotopic responses, markedly reduced photopic responses, funduscopic findings: mottling of peripheral pigment epithelium, mild choroidal atrophy, foveal thickness (μm) right/left eye: 126/97, color vision: moderate color confusions with no specific axi"	""	""	""	""	""	""	""	""	"Mild retinitis pigmentosa sine pigmento"	""	""
"0000292614"	"04214"	"00399509"	"00000"	"Familial, autosomal recessive"	"32y"	"Snellen best corrected visual acuity right/left eye: 0.5/0.5, kinetic visual field with target III4e: ring scotoma remaining visual field 13 001 right eye and 13 192 deg2 left eye, full-field electroretinography: nondetectable scotopic responses, markedly reduced photopic responses, funduscopic findings: mottling of peripheral pigment epithelium, mild retinal pigment epithelium atrophy, foveal thickness (μm) right/left eye: 93/91, color vision: moderate changes along the tritan axi"	""	""	""	""	""	""	""	""	"Mild retinitis pigmentosa sine pigmento"	""	""
"0000292615"	"04214"	"00399510"	"00000"	"Familial, autosomal recessive"	"23y"	"Snellen best corrected visual acuity right/left eye: 0.8/0.63, kinetic visual field with target III4e: visual field constriction, remaining visual field 14 119 right eye and 13 507 deg2 left eye, full-field electroretinography: nondetectable scotopic responses, markedly reduced photopic responses, funduscopic findings: peripheral white dots, foveal thickness (μm) right/left eye: 143/148, color vision: mild changes along the tritan axi"	""	""	""	""	""	""	""	""	"retinitis punctate albescens"	""	""
"0000292616"	"04214"	"00399511"	"00000"	"Familial, autosomal recessive"	"10y"	"Snellen best corrected visual acuity right/left eye: 0.63/0.63, kinetic visual field with target III4e: mildly constricted visual fields, full-field electroretinography: nondetectable scotopic responses, markedly reduced photopic responses, funduscopic findings: peripheral white dots, foveal thickness (μm) right/left eye: n.a., color vision: mild changes along the tritan axi"	""	""	""	""	""	""	""	""	"retinitis punctate albescens"	""	""
"0000292617"	"04214"	"00399512"	"00000"	"Familial, autosomal recessive"	"7y"	"Snellen best corrected visual acuity right/left eye: 0.5/0.5, kinetic visual field with target III4e: not performed, full-field electroretinography: nondetectable, funduscopic findings: peripheral white dots, foveal thickness (μm) right/left eye: 150/154, color vision: mild unspecific change"	""	""	""	""	""	""	""	""	"retinitis punctate albescens"	""	""
"0000292618"	"04214"	"00399513"	"00000"	"Familial, autosomal recessive"	"44y"	"Snellen best corrected visual acuity right/left eye: 0.1/0.2, kinetic visual field with target III4e: mild visual field constriction with mid-peripheral patchy scotomata, full-field electroretinography: nondetectable scotopic responses, markedly reduced photopic responses, funduscopic findings: peripheral white dots and areolar atrophy of the peripheral pigment epithelium, foveal thickness (μm) right/left eye: n.a., color vision: severe color confusions with no specific axi"	""	""	""	""	""	""	""	""	"Bothnia dystrophy"	""	""
"0000292622"	"04214"	"00399517"	"00000"	"Familial, autosomal recessive"	"31y"	"5y: myopia; 7y: night vision disturbance; funduscopy: typical “salt and pepper” aspect without macular involvement; optical coherent tomography: numerous well-demarcated homogenous dome-shaped lesions, originating from the retinal pigment epithelium layer; continuous worsening with reduction of the visual field due to “retinal-tapetum” dege"	""	""	""	""	""	""	""	""	"retinitis punctate albescens"	""	""
"0000292624"	"04214"	"00399520"	"00000"	"Familial, autosomal recessive"	"3y"	"detailed phenotypic description in paper"	""	""	""	""	""	""	""	""	"retinitis punctate albescens"	""	""
"0000292626"	"04214"	"00399521"	"00000"	"Familial, autosomal recessive"	"15y"	"Photophobia, poor night vision; detailed phenotypic description in paper"	""	""	""	""	""	""	""	""	"retinitis punctate albescens"	""	""
"0000292627"	"04214"	"00399522"	"00000"	"Familial, autosomal recessive"	"13y"	"Photophobia, poor night vision; detailed phenotypic description in paper"	""	""	""	""	""	""	""	""	"retinitis punctate albescens"	""	""
"0000292628"	"04214"	"00399523"	"00000"	"Familial, autosomal recessive"	"8y"	"best-corrected visual acuity was 20/20 in both eyes. Anterior segment evaluation and intraocular pressure were normal in both eyes. At fundoscopy, multiple punctate whitish-yellow fleck-like lesions were observed in the proximity of temporal superior and inferior vascular arcades. Scotopic electroretinogram demonstrated severely reduced rod response, without improvement or recovery of rod system function after prolonged dark adaptation"	"6y"	""	"nyctalopia"	""	""	""	""	""	"retinitis punctate albescens"	""	""
"0000310999"	"04214"	"00419719"	"04405"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000311705"	"04214"	"00420457"	"00000"	"Familial, autosomal recessive"	"83y"	""	"60y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000311760"	"04214"	"00420512"	"00000"	"Familial, autosomal recessive"	"18y4m"	""	"1y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000311814"	"04214"	"00420566"	"00000"	"Familial, autosomal recessive"	"20y1m"	""	"8y"	""	""	""	""	""	""	""	"retinitis pigmentosa"	""	""
"0000318066"	"04214"	"00426928"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""
"0000318081"	"04214"	"00426943"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"rod-cone dystrophy"	"rod-cone dystrophy"	""
"0000320802"	"04214"	"00429930"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000320923"	"04214"	"00430051"	"04436"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000336188"	"00198"	"00446989"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal recessive"	""
"0000336783"	"00198"	"00447584"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336883"	"00198"	"00447684"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"macular dystrophy"	""


## Screenings ## Do not remove or alter this header ##
## Count = 191
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000033238"	"00033170"	"1"	"00229"	"00229"	"2012-02-04 15:59:56"	"00006"	"2012-05-18 13:59:33"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000087959"	"00087819"	"1"	"00229"	"00229"	"2012-02-04 15:59:56"	"00006"	"2012-05-18 13:59:33"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000096357"	"00095954"	"1"	"01769"	"01769"	"2017-01-26 22:37:36"	""	""	"SEQ"	"DNA"	"WBC"	""
"0000100477"	"00100074"	"1"	"01769"	"01769"	"2017-01-30 15:47:56"	""	""	"SEQ"	"DNA"	"WBC"	""
"0000156407"	"00155542"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000234391"	"00233292"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234392"	"00233293"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234393"	"00233294"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234394"	"00233295"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234395"	"00233296"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234396"	"00233297"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234397"	"00233298"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234398"	"00233299"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234399"	"00233300"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000247708"	"00246596"	"1"	"00006"	"00006"	"2019-07-14 13:36:45"	""	""	"SEQ"	"DNA"	""	""
"0000247709"	"00246597"	"1"	"00006"	"00006"	"2019-07-14 13:42:59"	""	""	"SEQ"	"DNA"	""	""
"0000247710"	"00246598"	"1"	"00006"	"00006"	"2019-07-14 13:47:02"	""	""	"SEQ"	"DNA"	""	""
"0000308964"	"00307824"	"1"	"00006"	"00006"	"2020-08-18 14:48:39"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000308965"	"00307825"	"1"	"00006"	"00006"	"2020-08-18 14:48:39"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000309549"	"00308405"	"1"	"00004"	"00006"	"2020-08-26 16:56:47"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"123 gene panel"
"0000309695"	"00308550"	"1"	"00004"	"00006"	"2020-08-27 13:01:07"	""	""	"SEQ"	"DNA"	""	""
"0000309768"	"00308623"	"1"	"00004"	"00006"	"2020-08-27 13:01:07"	""	""	"SEQ"	"DNA"	""	""
"0000310514"	"00309369"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310515"	"00309370"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310516"	"00309371"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310963"	"00309818"	"1"	"00006"	"00006"	"2020-09-03 19:48:29"	""	""	"SEQ"	"DNA"	""	""
"0000310968"	"00309823"	"1"	"00006"	"00006"	"2020-09-03 19:48:29"	""	""	"SEQ"	"DNA"	""	""
"0000329240"	"00328025"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000335217"	"00333991"	"1"	"00000"	"00006"	"2021-02-26 16:26:23"	""	""	"SEQ-NG"	"DNA"	""	""
"0000336619"	"00335390"	"1"	"00000"	"00006"	"2021-03-05 16:19:42"	""	""	"SEQ-NG"	"DNA"	""	"283-gene panel"
"0000363470"	"00362241"	"1"	"04043"	"00006"	"2021-04-16 13:26:31"	""	""	"SEQ-NG"	"DNA"	""	""
"0000364140"	"00362912"	"1"	"00000"	"00006"	"2021-04-23 19:25:57"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364806"	"00363578"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364842"	"00363614"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000364952"	"00363724"	"1"	"00000"	"00006"	"2021-04-29 16:11:05"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373912"	"00372680"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373956"	"00372724"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373970"	"00372738"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373984"	"00372752"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000376107"	"00374913"	"1"	"00000"	"00006"	"2021-05-27 14:15:58"	""	""	"SEQ-NG"	"DNA"	""	"284 gene panel"
"0000376111"	"00374917"	"1"	"00000"	"00006"	"2021-05-27 14:15:58"	""	""	"SEQ-NG"	"DNA"	""	"284 gene panel"
"0000376627"	"00375430"	"1"	"00000"	"00006"	"2021-06-04 09:36:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000377716"	"00376511"	"1"	"00000"	"00008"	"2021-06-25 02:22:54"	""	""	"PCRm;SEQ"	"DNA"	"blood"	""
"0000377974"	"00376768"	"1"	"00000"	"00006"	"2021-06-25 14:31:53"	""	""	"SEQ-NG"	"DNA"	""	"66-gene panel"
"0000378243"	"00377038"	"1"	"00000"	"00008"	"2021-06-29 06:08:50"	""	""	"PCR;RFLP"	"DNA"	"blood"	""
"0000378244"	"00377039"	"1"	"00000"	"00008"	"2021-06-29 06:08:50"	""	""	"PCR;RFLP;PE"	"DNA"	"blood"	""
"0000378245"	"00377040"	"1"	"00000"	"00008"	"2021-06-29 06:08:50"	""	""	"PCR;RFLP"	"DNA"	"blood"	""
"0000378246"	"00377041"	"1"	"00000"	"00008"	"2021-06-29 06:08:50"	""	""	"PCR;RFLP"	"DNA"	"blood"	""
"0000378247"	"00377042"	"1"	"00000"	"00008"	"2021-06-29 06:08:50"	""	""	"PCR;RFLP"	"DNA"	"blood"	""
"0000378248"	"00377043"	"1"	"00000"	"00008"	"2021-06-29 06:08:50"	""	""	"PCR;RFLP"	"DNA"	"blood"	""
"0000378249"	"00377044"	"1"	"00000"	"00008"	"2021-06-29 06:08:50"	""	""	"PCR;RFLP;PE"	"DNA"	"blood"	""
"0000379028"	"00377824"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PE"	"DNA"	"blood"	""
"0000380594"	"00379394"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"PCR;SEQ; arraySNP"	"DNA"	"blood"	""
"0000380595"	"00379395"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"PCR;SEQ; arraySNP"	"DNA"	"blood"	""
"0000380710"	"00379510"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"PCR"	"DNA"	"blood"	""
"0000380711"	"00379511"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"PCR"	"DNA"	"blood"	""
"0000380712"	"00379512"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"PCR"	"DNA"	"blood"	""
"0000380713"	"00379513"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"PCR"	"DNA"	"blood"	""
"0000380714"	"00379514"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"PCR"	"DNA"	"blood"	""
"0000380715"	"00379515"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"PCR"	"DNA"	"blood"	""
"0000380716"	"00379516"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"PCR"	"DNA"	"blood"	""
"0000380717"	"00379517"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"PCR"	"DNA"	"blood"	""
"0000381077"	"00379875"	"1"	"00000"	"03840"	"2021-08-10 08:08:19"	""	""	"SEQ-NG"	"DNA"	""	"panel of 441 hereditary eye disease genes including 291 genes related to IRD"
"0000381529"	"00380315"	"1"	"00000"	"00008"	"2021-08-13 14:56:11"	""	""	"SEQ-NG"	"DNA"	"blood"	"autozygome-guided sequencing"
"0000381533"	"00380319"	"1"	"00000"	"00008"	"2021-08-13 14:56:11"	""	""	"SEQ-NG"	"DNA"	"blood"	"exome sequencing"
"0000381590"	"00380376"	"1"	"00000"	"00008"	"2021-08-13 14:56:11"	""	""	"PCR"	"DNA"	"blood"	""
"0000381591"	"00380377"	"1"	"00000"	"00008"	"2021-08-13 14:56:11"	""	""	"PCR"	"DNA"	"blood"	""
"0000382829"	"00381613"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000382897"	"00381681"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"SEQ-NG-I;SEQ-NG-R;SEQ"	"DNA"	"blood"	""
"0000383106"	"00381890"	"1"	"00000"	"03840"	"2021-09-06 14:05:57"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000383542"	"00382328"	"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"
"0000383807"	"00382593"	"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"
"0000385153"	"00383928"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385266"	"00384041"	"1"	"00000"	"03840"	"2021-09-29 13:11:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000385974"	"00384748"	"1"	"00000"	"00008"	"2021-10-05 15:28:49"	""	""	"arraySEQ;MLPA"	"DNA"	""	""
"0000386633"	"00385404"	"1"	"00000"	"03840"	"2021-10-10 19:46:50"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000390254"	"00389011"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET5 targeted sequencing panel - see paper"
"0000390503"	"00389260"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing"
"0000390504"	"00389261"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET4 targeted sequencing panel - see paper"
"0000391060"	"00389817"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET2 targeted sequencing panel - see paper"
"0000391100"	"00389857"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET3 targeted sequencing panel - see paper"
"0000391611"	"00390370"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000391720"	"00390479"	"1"	"00000"	"03840"	"2021-11-10 12:02:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"whole genome sequencing"
"0000394025"	"00392778"	"1"	"00000"	"03840"	"2021-11-24 16:18:10"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing of 4 genes"
"0000394026"	"00392779"	"1"	"00000"	"03840"	"2021-11-24 16:18:10"	""	""	"SEQ"	"DNA"	"blood"	"Sanger sequencing of 4 genes"
"0000394840"	"00393592"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000395577"	"00394330"	"1"	"00000"	"03840"	"2021-12-01 10:17:04"	""	""	"SEQ-NG"	"DNA"	""	"retrospective analysis"
"0000395578"	"00394331"	"1"	"00000"	"03840"	"2021-12-01 10:17:04"	""	""	"SEQ-NG"	"DNA"	""	"retrospective analysis"
"0000395579"	"00394332"	"1"	"00000"	"03840"	"2021-12-01 10:17:04"	""	""	"SEQ-NG"	"DNA"	""	"retrospective analysis"
"0000395580"	"00394333"	"1"	"00000"	"03840"	"2021-12-01 10:17:04"	""	""	"SEQ-NG"	"DNA"	""	"retrospective analysis"
"0000395872"	"00394625"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000395873"	"00394626"	"1"	"00000"	"00008"	"2021-12-02 08:42:19"	""	""	"SEQ"	"DNA"	""	""
"0000397018"	"00395779"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000397103"	"00395864"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000397133"	"00395894"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000400463"	"00399219"	"1"	"00000"	"03840"	"2022-01-17 14:50:50"	""	""	"STR;SSCA;SEQ"	"DNA"	""	"for other techniques see paper"
"0000400464"	"00399220"	"1"	"00000"	"03840"	"2022-01-17 14:50:50"	""	""	"STR;SSCA;SEQ"	"DNA"	""	"for other techniques see paper"
"0000400465"	"00399221"	"1"	"00000"	"03840"	"2022-01-17 14:50:50"	""	""	"STR;SSCA;SEQ"	"DNA"	""	"for other techniques see paper"
"0000400466"	"00399222"	"1"	"00000"	"03840"	"2022-01-17 14:50:50"	""	""	"STR;SSCA;SEQ"	"DNA"	""	"for other techniques see paper"
"0000400467"	"00399223"	"1"	"00000"	"03840"	"2022-01-17 14:50:50"	""	""	"STR;SSCA;SEQ"	"DNA"	""	"for other techniques see paper"
"0000400468"	"00399224"	"1"	"00000"	"03840"	"2022-01-17 14:50:50"	""	""	"STR;SSCA;SEQ"	"DNA"	""	"for other techniques see paper"
"0000400469"	"00399225"	"1"	"00000"	"03840"	"2022-01-17 14:50:50"	""	""	"STR;SSCA;SEQ"	"DNA"	""	"for other techniques see paper"
"0000400470"	"00399226"	"1"	"00000"	"03840"	"2022-01-17 14:50:50"	""	""	"STR;SSCA;SEQ"	"DNA"	""	"for other techniques see paper"
"0000400471"	"00399227"	"1"	"00000"	"03840"	"2022-01-17 14:50:50"	""	""	"STR;SSCA;SEQ"	"DNA"	""	"for other techniques see paper"
"0000400472"	"00399228"	"1"	"00000"	"03840"	"2022-01-17 14:50:50"	""	""	"STR;SSCA;SEQ"	"DNA"	""	"for other techniques see paper"
"0000400473"	"00399229"	"1"	"00000"	"03840"	"2022-01-17 14:50:50"	""	""	"STR;SSCA;SEQ"	"DNA"	""	"for other techniques see paper"
"0000400474"	"00399230"	"1"	"00000"	"03840"	"2022-01-17 14:50:50"	""	""	"STR;SSCA;SEQ"	"DNA"	""	"for other techniques see paper"
"0000400475"	"00399231"	"1"	"00000"	"03840"	"2022-01-17 14:50:50"	""	""	"STR;SSCA;SEQ"	"DNA"	""	"for other techniques see paper"
"0000400476"	"00399232"	"1"	"00000"	"03840"	"2022-01-17 14:50:50"	""	""	"STR;SSCA;SEQ"	"DNA"	""	"for other techniques see paper"
"0000400477"	"00399233"	"1"	"00000"	"03840"	"2022-01-17 14:50:50"	""	""	"STR;SSCA;SEQ"	"DNA"	""	"for other techniques see paper"
"0000400478"	"00399234"	"1"	"00000"	"03840"	"2022-01-17 14:50:50"	""	""	"STR;SSCA;SEQ"	"DNA"	""	"for other techniques see paper"
"0000400479"	"00399235"	"1"	"00000"	"03840"	"2022-01-17 14:50:50"	""	""	"STR;SSCA;SEQ"	"DNA"	""	"for other techniques see paper"
"0000400480"	"00399236"	"1"	"00000"	"03840"	"2022-01-17 14:50:50"	""	""	"STR;SSCA;SEQ"	"DNA"	""	"for other techniques see paper"
"0000400481"	"00399237"	"1"	"00000"	"03840"	"2022-01-17 14:50:50"	""	""	"STR;SSCA;SEQ"	"DNA"	""	"for other techniques see paper"
"0000400482"	"00399238"	"1"	"00000"	"03840"	"2022-01-17 14:50:50"	""	""	"STR;SSCA;SEQ"	"DNA"	""	"for other techniques see paper"
"0000400520"	"00399277"	"1"	"00000"	"03840"	"2022-01-18 12:19:58"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000400521"	"00399278"	"1"	"00000"	"03840"	"2022-01-18 12:19:58"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000400522"	"00399279"	"1"	"00000"	"03840"	"2022-01-18 14:11:19"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000400523"	"00399280"	"1"	"00000"	"03840"	"2022-01-18 14:11:19"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000400524"	"00399281"	"1"	"00000"	"03840"	"2022-01-18 14:11:19"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000400525"	"00399282"	"1"	"00000"	"03840"	"2022-01-18 14:11:19"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000400528"	"00399285"	"1"	"00000"	"03840"	"2022-01-18 17:49:57"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000400529"	"00399286"	"1"	"00000"	"03840"	"2022-01-18 17:49:57"	""	""	"SSCA;SEQ"	"DNA"	""	""
"0000400542"	"00399299"	"1"	"00000"	"03840"	"2022-01-19 12:51:19"	""	""	"STR;SEQ"	"DNA"	""	""
"0000400543"	"00399300"	"1"	"00000"	"03840"	"2022-01-19 12:51:19"	""	""	"STR;SEQ"	"DNA"	""	""
"0000400544"	"00399301"	"1"	"00000"	"03840"	"2022-01-19 12:51:19"	""	""	"STR;SEQ"	"DNA"	""	""
"0000400545"	"00399302"	"1"	"00000"	"03840"	"2022-01-19 12:51:19"	""	""	"STR;SEQ"	"DNA"	""	""
"0000400546"	"00399303"	"1"	"00000"	"03840"	"2022-01-19 12:51:19"	""	""	"STR;SEQ"	"DNA"	""	""
"0000400547"	"00399304"	"1"	"00000"	"03840"	"2022-01-19 12:51:19"	""	""	"STR;SEQ"	"DNA"	""	""
"0000400548"	"00399305"	"1"	"00000"	"03840"	"2022-01-19 12:51:19"	""	""	"STR;SEQ"	"DNA"	""	""
"0000400549"	"00399306"	"1"	"00000"	"03840"	"2022-01-19 12:51:19"	""	""	"STR;SEQ"	"DNA"	""	""
"0000400550"	"00399307"	"1"	"00000"	"03840"	"2022-01-19 12:51:19"	""	""	"STR;SEQ"	"DNA"	""	""
"0000400551"	"00399308"	"1"	"00000"	"03840"	"2022-01-19 12:51:19"	""	""	"STR;SEQ"	"DNA"	""	""
"0000400552"	"00399309"	"1"	"00000"	"03840"	"2022-01-19 12:51:19"	""	""	"STR;SEQ"	"DNA"	""	""
"0000400553"	"00399310"	"1"	"00000"	"03840"	"2022-01-19 12:51:19"	""	""	"STR;SEQ"	"DNA"	""	""
"0000400554"	"00399311"	"1"	"00000"	"03840"	"2022-01-19 12:51:19"	""	""	"STR;SEQ"	"DNA"	""	""
"0000400555"	"00399312"	"1"	"00000"	"03840"	"2022-01-19 12:51:19"	""	""	"STR;SEQ"	"DNA"	""	""
"0000400556"	"00399313"	"1"	"00000"	"03840"	"2022-01-19 12:51:19"	""	""	"STR;SEQ"	"DNA"	""	""
"0000400557"	"00399314"	"1"	"00000"	"03840"	"2022-01-19 12:51:19"	""	""	"STR;SEQ"	"DNA"	""	""
"0000400558"	"00399315"	"1"	"00000"	"03840"	"2022-01-19 12:51:19"	""	""	"STR;SEQ"	"DNA"	""	""
"0000400559"	"00399316"	"1"	"00000"	"03840"	"2022-01-19 12:51:19"	""	""	"STR;SEQ"	"DNA"	""	""
"0000400560"	"00399317"	"1"	"00000"	"03840"	"2022-01-19 12:51:19"	""	""	"STR;SEQ"	"DNA"	""	""
"0000400561"	"00399318"	"1"	"00000"	"03840"	"2022-01-19 12:51:19"	""	""	"STR;SEQ"	"DNA"	""	""
"0000400563"	"00399320"	"1"	"00000"	"03840"	"2022-01-19 13:25:35"	""	""	"SEQ"	"DNA"	""	""
"0000400566"	"00399323"	"1"	"00000"	"03840"	"2022-01-19 14:17:34"	""	""	"SEQ"	"DNA"	""	""
"0000400570"	"00399327"	"1"	"00000"	"03840"	"2022-01-19 15:00:59"	""	""	"SEQ"	"DNA"	""	""
"0000400610"	"00399367"	"1"	"00000"	"03840"	"2022-01-19 23:04:40"	""	""	"arraySNP;SEQ"	"DNA"	""	"arrayed APEX technology"
"0000400611"	"00399368"	"1"	"00000"	"03840"	"2022-01-19 23:04:40"	""	""	"arraySNP;SEQ"	"DNA"	""	"arrayed APEX technology"
"0000400612"	"00399369"	"1"	"00000"	"03840"	"2022-01-19 23:04:40"	""	""	"arraySNP;SEQ"	"DNA"	""	"arrayed APEX technology"
"0000400613"	"00399370"	"1"	"00000"	"03840"	"2022-01-19 23:04:40"	""	""	"arraySNP;SEQ"	"DNA"	""	"arrayed APEX technology"
"0000400614"	"00399371"	"1"	"00000"	"03840"	"2022-01-19 23:04:40"	""	""	"arraySNP;SEQ"	"DNA"	""	"arrayed APEX technology"
"0000400615"	"00399372"	"1"	"00000"	"03840"	"2022-01-19 23:04:40"	""	""	"arraySNP;SEQ"	"DNA"	""	"arrayed APEX technology"
"0000400616"	"00399373"	"1"	"00000"	"03840"	"2022-01-19 23:04:40"	""	""	"arraySNP;SEQ"	"DNA"	""	"arrayed APEX technology"
"0000400617"	"00399374"	"1"	"00000"	"03840"	"2022-01-19 23:04:40"	""	""	"arraySNP;SEQ"	"DNA"	""	"arrayed APEX technology"
"0000400618"	"00399375"	"1"	"00000"	"03840"	"2022-01-19 23:04:40"	""	""	"arraySNP;SEQ"	"DNA"	""	"arrayed APEX technology"
"0000400619"	"00399376"	"1"	"00000"	"03840"	"2022-01-19 23:04:40"	""	""	"arraySNP;SEQ"	"DNA"	""	"arrayed APEX technology"
"0000400629"	"00399388"	"1"	"00000"	"03840"	"2022-01-20 13:34:16"	""	""	"SEQ"	"DNA"	""	""
"0000400638"	"00399396"	"1"	"00000"	"03840"	"2022-01-20 14:57:25"	""	""	"SEQ"	"DNA"	""	""
"0000400639"	"00399397"	"1"	"00000"	"03840"	"2022-01-20 14:57:25"	""	""	"SEQ"	"DNA"	""	""
"0000400640"	"00399398"	"1"	"00000"	"03840"	"2022-01-20 14:57:25"	""	""	"SEQ"	"DNA"	""	""
"0000400641"	"00399399"	"1"	"00000"	"03840"	"2022-01-20 14:57:25"	""	""	"SEQ"	"DNA"	""	""
"0000400642"	"00399400"	"1"	"00000"	"03840"	"2022-01-20 14:57:25"	""	""	"SEQ"	"DNA"	""	""
"0000400643"	"00399401"	"1"	"00000"	"03840"	"2022-01-20 14:57:25"	""	""	"SEQ"	"DNA"	""	""
"0000400644"	"00399402"	"1"	"00000"	"03840"	"2022-01-20 14:57:25"	""	""	"SEQ"	"DNA"	""	""
"0000400645"	"00399403"	"1"	"00000"	"03840"	"2022-01-20 14:57:25"	""	""	"SEQ"	"DNA"	""	""
"0000400646"	"00399404"	"1"	"00000"	"03840"	"2022-01-20 14:57:25"	""	""	"SEQ"	"DNA"	""	""
"0000400647"	"00399405"	"1"	"00000"	"03840"	"2022-01-20 14:57:25"	""	""	"SEQ"	"DNA"	""	""
"0000400648"	"00399406"	"1"	"00000"	"03840"	"2022-01-20 14:57:25"	""	""	"SEQ"	"DNA"	""	""
"0000400750"	"00399507"	"1"	"00000"	"03840"	"2022-01-21 12:18:12"	""	""	"SEQ-NG"	"DNA"	""	"panel-based next-generation sequencing (Glockle et al. 2014)"
"0000400751"	"00399508"	"1"	"00000"	"03840"	"2022-01-21 12:18:12"	""	""	"SEQ-NG"	"DNA"	""	"panel-based next-generation sequencing (Glockle et al. 2014)"
"0000400752"	"00399509"	"1"	"00000"	"03840"	"2022-01-21 12:18:12"	""	""	"SEQ-NG"	"DNA"	""	"panel-based next-generation sequencing (Glockle et al. 2014)"
"0000400753"	"00399510"	"1"	"00000"	"03840"	"2022-01-21 12:18:12"	""	""	"arraySNP;SEQ"	"DNA"	""	"genomewide linkage analysis using Affymetrix"
"0000400754"	"00399511"	"1"	"00000"	"03840"	"2022-01-21 12:18:12"	""	""	"arraySNP;SEQ"	"DNA"	""	"panel-based next-generation sequencing (Glockle et al. 2014)"
"0000400755"	"00399512"	"1"	"00000"	"03840"	"2022-01-21 12:18:12"	""	""	"SEQ-NG"	"DNA"	""	"panel-based next-generation sequencing (Glockle et al. 2014)"
"0000400756"	"00399513"	"1"	"00000"	"03840"	"2022-01-21 12:18:12"	""	""	"SEQ-NG"	"DNA"	""	"panel-based next-generation sequencing (Glockle et al. 2014)"
"0000400760"	"00399517"	"1"	"00000"	"03840"	"2022-01-21 12:51:56"	""	""	"SEQ"	"DNA"	"blood"	""
"0000400762"	"00399520"	"1"	"00000"	"03840"	"2022-01-21 13:29:48"	""	""	"SEQ"	"DNA"	"blood"	""
"0000400764"	"00399521"	"1"	"00000"	"03840"	"2022-01-21 13:54:57"	""	""	"SEQ"	"DNA"	"blood"	""
"0000400765"	"00399522"	"1"	"00000"	"03840"	"2022-01-21 13:54:57"	""	""	"SEQ"	"DNA"	"blood"	""
"0000400766"	"00399523"	"1"	"00000"	"03840"	"2022-01-21 14:08:15"	""	""	"SEQ"	"DNA"	"blood"	""
"0000421024"	"00419719"	"1"	"04405"	"00006"	"2022-10-21 12:50:15"	""	""	"MIPsm"	"DNA"	""	"smMIPs 105 iMD/AMD genes"
"0000421766"	"00420457"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000421821"	"00420512"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000421875"	"00420566"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000428248"	"00426928"	"1"	"00000"	"03840"	"2022-12-03 18:53:15"	""	""	"SEQ-NG;SEQ"	"DNA"	"saliva"	"panel-based next generation sequencing"
"0000428263"	"00426943"	"1"	"00000"	"03840"	"2022-12-03 18:53:15"	""	""	"SEQ-NG;SEQ"	"DNA"	"saliva"	"panel-based next generation sequencing"
"0000431343"	"00429930"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000431464"	"00430051"	"1"	"04436"	"00008"	"2023-01-11 18:53:49"	""	""	"SEQ"	"DNA"	""	"RP-LCA smMIPs sequencing"
"0000448566"	"00446989"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449161"	"00447584"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449261"	"00447684"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 182
"{{screeningid}}"	"{{geneid}}"
"0000033238"	"BEST1"
"0000033238"	"CRB1"
"0000033238"	"NPHP4"
"0000033238"	"RLBP1"
"0000087959"	"RLBP1"
"0000096357"	"RLBP1"
"0000100477"	"RLBP1"
"0000156407"	"RLBP1"
"0000234391"	"RLBP1"
"0000234392"	"RLBP1"
"0000234393"	"RLBP1"
"0000234394"	"RLBP1"
"0000234395"	"RLBP1"
"0000234396"	"RLBP1"
"0000234397"	"RLBP1"
"0000234398"	"RLBP1"
"0000234399"	"RLBP1"
"0000247708"	"RLBP1"
"0000247709"	"RLBP1"
"0000247710"	"RLBP1"
"0000308964"	"RLBP1"
"0000308965"	"RLBP1"
"0000309549"	"RLBP1"
"0000309695"	"RLBP1"
"0000309768"	"RLBP1"
"0000310514"	"RLBP1"
"0000310515"	"RLBP1"
"0000310516"	"RLBP1"
"0000310963"	"RLBP1"
"0000310968"	"RLBP1"
"0000329240"	"RLBP1"
"0000335217"	"RLBP1"
"0000336619"	"RLBP1"
"0000363470"	"RLBP1"
"0000364140"	"RLBP1"
"0000364806"	"RLBP1"
"0000364842"	"RLBP1"
"0000364952"	"RLBP1"
"0000377716"	"RLBP1"
"0000378243"	"RLBP1"
"0000378244"	"RLBP1"
"0000378245"	"RLBP1"
"0000378246"	"RLBP1"
"0000378247"	"RLBP1"
"0000378248"	"RLBP1"
"0000378249"	"RLBP1"
"0000379028"	"RLBP1"
"0000380594"	"RLBP1"
"0000380595"	"RLBP1"
"0000380710"	"RLBP1"
"0000380711"	"RLBP1"
"0000380712"	"RLBP1"
"0000380713"	"RLBP1"
"0000380714"	"RLBP1"
"0000380715"	"RLBP1"
"0000380716"	"RLBP1"
"0000380717"	"RLBP1"
"0000381077"	"RLBP1"
"0000381529"	"RLBP1"
"0000381533"	"RLBP1"
"0000381590"	"RLBP1"
"0000381591"	"RLBP1"
"0000382829"	"RHO"
"0000382897"	"ABCA4"
"0000383106"	"RLBP1"
"0000383542"	"NR2E3"
"0000383807"	"RLBP1"
"0000385153"	"RLBP1"
"0000385266"	"RLBP1"
"0000385974"	"RLBP1"
"0000386633"	"RLBP1"
"0000390254"	"RLBP1"
"0000390503"	"RLBP1"
"0000390504"	"RLBP1"
"0000391060"	"RLBP1"
"0000391100"	"RLBP1"
"0000391611"	"RLBP1"
"0000391720"	"RLBP1"
"0000394025"	"PRPH2"
"0000394026"	"PRPH2"
"0000394840"	"RLBP1"
"0000395577"	"RLBP1"
"0000395578"	"RLBP1"
"0000395579"	"RLBP1"
"0000395580"	"RLBP1"
"0000395872"	"RLBP1"
"0000395873"	"RLBP1"
"0000397018"	"RLBP1"
"0000397103"	"RLBP1"
"0000397133"	"RLBP1"
"0000400463"	"RLBP1"
"0000400464"	"RLBP1"
"0000400465"	"RLBP1"
"0000400466"	"RLBP1"
"0000400467"	"RLBP1"
"0000400468"	"RLBP1"
"0000400469"	"RLBP1"
"0000400470"	"RLBP1"
"0000400471"	"RLBP1"
"0000400472"	"RLBP1"
"0000400473"	"RLBP1"
"0000400474"	"RLBP1"
"0000400475"	"RLBP1"
"0000400476"	"RLBP1"
"0000400477"	"RLBP1"
"0000400478"	"RLBP1"
"0000400479"	"RLBP1"
"0000400480"	"RLBP1"
"0000400481"	"RLBP1"
"0000400482"	"RLBP1"
"0000400520"	"RLBP1"
"0000400521"	"RLBP1"
"0000400522"	"RLBP1"
"0000400523"	"RLBP1"
"0000400524"	"RLBP1"
"0000400525"	"RLBP1"
"0000400528"	"RLBP1"
"0000400529"	"RLBP1"
"0000400542"	"RLBP1"
"0000400543"	"RLBP1"
"0000400544"	"RLBP1"
"0000400545"	"RLBP1"
"0000400546"	"RLBP1"
"0000400547"	"RLBP1"
"0000400548"	"RLBP1"
"0000400549"	"RLBP1"
"0000400550"	"RLBP1"
"0000400551"	"RLBP1"
"0000400552"	"RLBP1"
"0000400553"	"RLBP1"
"0000400554"	"RLBP1"
"0000400555"	"RLBP1"
"0000400556"	"RLBP1"
"0000400557"	"RLBP1"
"0000400558"	"RLBP1"
"0000400559"	"RLBP1"
"0000400560"	"RLBP1"
"0000400561"	"RLBP1"
"0000400563"	"RLBP1"
"0000400566"	"RLBP1"
"0000400570"	"RLBP1"
"0000400610"	"RLBP1"
"0000400611"	"RLBP1"
"0000400612"	"RLBP1"
"0000400613"	"RLBP1"
"0000400614"	"RLBP1"
"0000400615"	"RLBP1"
"0000400616"	"RLBP1"
"0000400617"	"RLBP1"
"0000400618"	"RLBP1"
"0000400619"	"RLBP1"
"0000400629"	"RLBP1"
"0000400638"	"RLBP1"
"0000400639"	"RLBP1"
"0000400640"	"RLBP1"
"0000400641"	"RLBP1"
"0000400642"	"RLBP1"
"0000400643"	"RLBP1"
"0000400644"	"RLBP1"
"0000400645"	"RLBP1"
"0000400646"	"RLBP1"
"0000400647"	"RLBP1"
"0000400648"	"RLBP1"
"0000400750"	"RLBP1"
"0000400751"	"RLBP1"
"0000400752"	"RLBP1"
"0000400753"	"RLBP1"
"0000400754"	"RLBP1"
"0000400755"	"RLBP1"
"0000400756"	"RLBP1"
"0000400760"	"RLBP1"
"0000400762"	"RLBP1"
"0000400764"	"RLBP1"
"0000400765"	"RLBP1"
"0000400766"	"RLBP1"
"0000421766"	"RLBP1"
"0000421821"	"RLBP1"
"0000421875"	"RLBP1"
"0000428248"	"CEP290"
"0000428263"	"RLBP1"
"0000431343"	"RLBP1"
"0000431464"	"RLBP1"


## 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 = 277
"{{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}}"
"0000060190"	"2"	"90"	"15"	"89753526"	"89758292"	"del"	"0"	"00229"	"RLBP1_000001"	"g.89753526_89758292del"	""	"{PMID:Neveling 2012:22334370}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.89210295_89215061del"	""	"pathogenic"	""
"0000060191"	"1"	"90"	"15"	"89753526"	"89758292"	"del"	"0"	"00229"	"RLBP1_000001"	"g.89753526_89758292del"	""	"{PMID:Neveling 2012:22334370}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.89210295_89215061del"	""	"pathogenic"	""
"0000140768"	"3"	"95"	"15"	"89753526"	"89758292"	"del"	"0"	"00229"	"RLBP1_000001"	"g.89753526_89758292del"	""	"{PMID:Neveling 2012:22334370}"	""	""	"segregates in family"	"Germline"	""	""	"0"	""	""	"g.89210295_89215061del"	""	"pathogenic"	""
"0000158350"	"3"	"90"	"15"	"89758350"	"89758350"	"subst"	"2.03031E-5"	"01769"	"RLBP1_000002"	"g.89758350G>A"	""	"{PMID:Li 2017:28418496}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.89215119G>A"	""	"pathogenic"	""
"0000162776"	"3"	"90"	"15"	"89760351"	"89760351"	"subst"	"4.09313E-6"	"01769"	"RLBP1_000003"	"g.89760351C>G"	""	"{PMID:Li 2017:28418496}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.89217120C>G"	""	"pathogenic"	""
"0000254284"	"0"	"30"	"15"	"89755019"	"89755019"	"subst"	"4.06095E-6"	"01943"	"RLBP1_000007"	"g.89755019A>G"	""	""	""	"RLBP1(NM_000326.4):c.639T>C (p.A213=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.89211788A>G"	""	"likely benign"	""
"0000254944"	"0"	"30"	"15"	"89761880"	"89761880"	"subst"	"1.21835E-5"	"01943"	"RLBP1_000011"	"g.89761880A>G"	""	""	""	"RLBP1(NM_000326.4):c.57T>C (p.R19=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.89218649A>G"	""	"likely benign"	""
"0000255944"	"0"	"50"	"15"	"89755113"	"89755113"	"subst"	"0.000719103"	"01943"	"RLBP1_000028"	"g.89755113A>C"	""	""	""	"RLBP1(NM_000326.4):c.545T>G (p.F182C), RLBP1(NM_000326.5):c.545T>G (p.F182C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.89211882A>C"	""	"VUS"	""
"0000294874"	"0"	"70"	"15"	"89760405"	"89760416"	"del"	"0"	"02330"	"RLBP1_000009"	"g.89760405_89760416del"	""	""	""	"RLBP1(NM_000326.5):c.286_297delTTCCTGCGCTTC (p.F96_F99del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.89217174_89217185del"	""	"likely pathogenic"	""
"0000294875"	"0"	"10"	"15"	"89760343"	"89760348"	"del"	"0.00886363"	"02330"	"RLBP1_000008"	"g.89760343_89760348del"	""	""	""	"RLBP1(NM_000326.5):c.346+3_346+8delGAGGCC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.89217112_89217117del"	""	"benign"	""
"0000294876"	"0"	"50"	"15"	"89754015"	"89754015"	"subst"	"0"	"02330"	"RLBP1_000006"	"g.89754015G>A"	""	""	""	"RLBP1(NM_000326.5):c.710C>T (p.A237V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.89210784G>A"	""	"VUS"	""
"0000294877"	"0"	"10"	"15"	"89753915"	"89753915"	"subst"	"0.000968437"	"02330"	"RLBP1_000005"	"g.89753915G>A"	""	""	""	"RLBP1(NM_000326.5):c.795+15C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.89210684G>A"	""	"benign"	""
"0000294878"	"0"	"10"	"15"	"89753913"	"89753913"	"subst"	"0.00111171"	"02330"	"RLBP1_000004"	"g.89753913G>A"	""	""	""	"RLBP1(NM_000326.5):c.795+17C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.89210682G>A"	""	"benign"	""
"0000307115"	"0"	"30"	"15"	"89761811"	"89761811"	"subst"	"0.000564551"	"01943"	"RLBP1_000010"	"g.89761811G>A"	""	""	""	"RLBP1(NM_000326.4):c.126C>T (p.R42=), RLBP1(NM_000326.5):c.126C>T (p.R42=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.89218580G>A"	""	"likely benign"	""
"0000341292"	"0"	"50"	"15"	"89754015"	"89754015"	"subst"	"0"	"02327"	"RLBP1_000006"	"g.89754015G>A"	""	""	""	"RLBP1(NM_000326.5):c.710C>T (p.A237V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.89210784G>A"	""	"VUS"	""
"0000358329"	"3"	"90"	"15"	"89760388"	"89760399"	"del"	"0"	"01243"	"RLBP1_000009"	"g.89760388_89760399del"	""	"Sharon, submitted"	""	""	"Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000477099"	"0"	"90"	"15"	"89753595"	"89753595"	"subst"	"3.66324E-5"	"02591"	"RLBP1_000013"	"g.89753595G>A"	"4/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs201588178"	"0"	""	""	"g.89210364G>A"	""	"pathogenic"	""
"0000477100"	"0"	"50"	"15"	"89753629"	"89753629"	"subst"	"1.63164E-5"	"02591"	"RLBP1_000014"	"g.89753629C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs749162238"	"0"	""	""	"g.89210398C>T"	""	"VUS"	""
"0000477101"	"0"	"50"	"15"	"89755032"	"89755032"	"subst"	"8.12183E-6"	"02591"	"RLBP1_000015"	"g.89755032A>G"	"3/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs775355367"	"0"	""	""	"g.89211801A>G"	""	"VUS"	""
"0000477102"	"0"	"50"	"15"	"89758406"	"89758406"	"subst"	"8.1217E-6"	"02591"	"RLBP1_000016"	"g.89758406C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs772116454"	"0"	""	""	"g.89215175C>T"	""	"VUS"	""
"0000477103"	"0"	"50"	"15"	"89760468"	"89760468"	"subst"	"1.63583E-5"	"02591"	"RLBP1_000017"	"g.89760468C>G"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs755885208"	"0"	""	""	"g.89217237C>G"	""	"VUS"	""
"0000477104"	"0"	"50"	"15"	"89760476"	"89760476"	"subst"	"0"	"02591"	"RLBP1_000018"	"g.89760476G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.89217245G>A"	""	"VUS"	""
"0000477105"	"0"	"10"	"15"	"89760506"	"89760506"	"subst"	"0.000980118"	"02591"	"RLBP1_000019"	"g.89760506C>T"	"46/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs201865787"	"0"	""	""	"g.89217275C>T"	""	"benign"	""
"0000477106"	"0"	"50"	"15"	"89761882"	"89761882"	"subst"	"0"	"02591"	"RLBP1_000020"	"g.89761882G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs369127471"	"0"	""	""	"g.89218651G>A"	""	"VUS"	""
"0000477107"	"0"	"50"	"15"	"89761895"	"89761895"	"subst"	"0"	"02591"	"RLBP1_000021"	"g.89761895C>A"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.89218664C>A"	""	"VUS"	""
"0000500577"	"3"	"90"	"15"	"89758364"	"89758364"	"subst"	"8.12117E-6"	"00006"	"RLBP1_000022"	"g.89758364C>T"	""	"{PMID:Katsanis 2001:11453974}"	""	"R150Q"	""	"Germline"	"yes"	"rs137853290"	"0"	""	""	"g.89215133C>T"	""	"pathogenic (recessive)"	""
"0000500578"	"3"	"90"	"15"	"89758350"	"89758350"	"subst"	"2.03031E-5"	"00006"	"RLBP1_000002"	"g.89758350G>A"	""	"{PMID:Naz 2011:21447491}"	""	""	"not in 192 ethnically matched control chromosomes"	"Germline"	"yes"	""	"0"	""	""	"g.89215119G>A"	""	"pathogenic (recessive)"	""
"0000500579"	"3"	"90"	"15"	"89760351"	"89760351"	"subst"	"4.09313E-6"	"00006"	"RLBP1_000003"	"g.89760351C>G"	""	"{PMID:Naz 2011:21447491}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.89217120C>G"	""	"pathogenic (recessive)"	""
"0000555967"	"0"	"70"	"15"	"89753577"	"89753577"	"subst"	"2.03204E-5"	"01943"	"RLBP1_000023"	"g.89753577C>T"	""	""	""	"RLBP1(NM_000326.4):c.893G>A (p.G298D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.89210346C>T"	""	"likely pathogenic"	""
"0000555968"	"0"	"10"	"15"	"89753663"	"89753663"	"subst"	"0.00175378"	"02330"	"RLBP1_000024"	"g.89753663G>A"	""	""	""	"RLBP1(NM_000326.5):c.807C>T (p.H269=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.89210432G>A"	""	"benign"	""
"0000555969"	"0"	"30"	"15"	"89754044"	"89754044"	"subst"	"0"	"02330"	"RLBP1_000025"	"g.89754044C>T"	""	""	""	"RLBP1(NM_000326.5):c.685-4G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.89210813C>T"	""	"likely benign"	""
"0000555970"	"0"	"30"	"15"	"89755011"	"89755011"	"subst"	"7.30964E-5"	"01943"	"RLBP1_000026"	"g.89755011C>T"	""	""	""	"RLBP1(NM_000326.4):c.647G>A (p.R216Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.89211780C>T"	""	"likely benign"	""
"0000555971"	"0"	"50"	"15"	"89755020"	"89755020"	"subst"	"0.000142138"	"01943"	"RLBP1_000027"	"g.89755020G>C"	""	""	""	"RLBP1(NM_000326.4):c.638C>G (p.A213G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.89211789G>C"	""	"VUS"	""
"0000555972"	"0"	"70"	"15"	"89758320"	"89758320"	"subst"	"4.06058E-6"	"02330"	"RLBP1_000029"	"g.89758320A>C"	""	""	""	"RLBP1(NM_000326.5):c.496T>G (p.W166G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.89215089A>C"	""	"likely pathogenic"	""
"0000555973"	"0"	"50"	"15"	"89758329"	"89758329"	"subst"	"5.2788E-5"	"02330"	"RLBP1_000030"	"g.89758329T>C"	""	""	""	"RLBP1(NM_000326.5):c.487A>G (p.I163V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.89215098T>C"	""	"VUS"	""
"0000555974"	"0"	"30"	"15"	"89760391"	"89760391"	"subst"	"0.00203732"	"02330"	"RLBP1_000031"	"g.89760391T>G"	""	""	""	"RLBP1(NM_000326.4):c.306A>C (p.A102=), RLBP1(NM_000326.5):c.306A>C (p.A102=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.89217160T>G"	""	"likely benign"	""
"0000555975"	"0"	"10"	"15"	"89760391"	"89760391"	"subst"	"0.00203732"	"01943"	"RLBP1_000031"	"g.89760391T>G"	""	""	""	"RLBP1(NM_000326.4):c.306A>C (p.A102=), RLBP1(NM_000326.5):c.306A>C (p.A102=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.89217160T>G"	""	"benign"	""
"0000555976"	"0"	"10"	"15"	"89760506"	"89760506"	"subst"	"0.000980118"	"01943"	"RLBP1_000019"	"g.89760506C>T"	""	""	""	"RLBP1(NM_000326.4):c.191G>A (p.R64Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.89217275C>T"	""	"benign"	""
"0000555977"	"0"	"10"	"15"	"89761790"	"89761790"	"subst"	"0.00135674"	"02330"	"RLBP1_000032"	"g.89761790C>T"	""	""	""	"RLBP1(NM_000326.4):c.141+6G>A, RLBP1(NM_000326.5):c.141+6G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.89218559C>T"	""	"benign"	""
"0000555978"	"0"	"30"	"15"	"89761790"	"89761790"	"subst"	"0.00135674"	"01943"	"RLBP1_000032"	"g.89761790C>T"	""	""	""	"RLBP1(NM_000326.4):c.141+6G>A, RLBP1(NM_000326.5):c.141+6G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.89218559C>T"	""	"likely benign"	""
"0000555979"	"0"	"10"	"15"	"89761811"	"89761811"	"subst"	"0.000564551"	"02330"	"RLBP1_000010"	"g.89761811G>A"	""	""	""	"RLBP1(NM_000326.4):c.126C>T (p.R42=), RLBP1(NM_000326.5):c.126C>T (p.R42=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.89218580G>A"	""	"benign"	""
"0000555980"	"0"	"50"	"15"	"89761813"	"89761813"	"subst"	"1.6349E-5"	"01943"	"RLBP1_000033"	"g.89761813G>A"	""	""	""	"RLBP1(NM_000326.4):c.124C>T (p.R42C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.89218582G>A"	""	"VUS"	""
"0000657688"	"0"	"70"	"15"	"89755056"	"89755056"	"subst"	"2.43659E-5"	"01943"	"RLBP1_000034"	"g.89755056A>G"	""	""	""	"RLBP1(NM_000326.4):c.602T>C (p.I201T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.89211825A>G"	""	"likely pathogenic"	""
"0000657689"	"0"	"30"	"15"	"89760466"	"89760466"	"subst"	"4.08817E-6"	"01943"	"RLBP1_000035"	"g.89760466C>T"	""	""	""	"RLBP1(NM_000326.4):c.231G>A (p.G77=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.89217235C>T"	""	"likely benign"	""
"0000683403"	"3"	"90"	"15"	"89761858"	"89761858"	"del"	"0"	"00006"	"RLBP1_000036"	"g.89761858del"	""	"{PMID:Al-Bdour 2020:32587456}"	""	"79delA"	"ACMG PVS1, PM2, PP1"	"Germline"	"yes"	"rs1567124404"	"0"	""	""	"g.89218627del"	""	"pathogenic (recessive)"	"ACMG"
"0000683404"	"3"	"90"	"15"	"89758418"	"89758418"	"del"	"0"	"00006"	"RLBP1_000037"	"g.89758418del"	""	"{PMID:Al-Bdour 2020:32587456}"	""	"398delC"	"ACMG PVS1, PM2, PP1"	"Germline"	"yes"	""	"0"	""	""	"g.89215187del"	""	"pathogenic (recessive)"	"ACMG"
"0000684414"	"3"	"70"	"15"	"0"	"0"	""	"0"	"00004"	"IGF1R_000000"	"g.?"	""	"{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}"	""	"c.526-?_c.954+?del"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000684568"	"1"	"70"	"15"	"89754981"	"89754981"	"subst"	"4.06141E-5"	"00004"	"RLBP1_000039"	"g.89754981A>T"	"1/899 cases"	"{PMID:Holtan 2020:31429209}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000684641"	"3"	"70"	"15"	"89754981"	"89754981"	"subst"	"4.06141E-5"	"00004"	"RLBP1_000039"	"g.89754981A>T"	"1/899 cases"	"{PMID:Holtan 2020:31429209}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000685425"	"0"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00004"	"RLBP1_000038"	"g.89754025G>A"	"2/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685426"	"0"	"70"	"15"	"89755056"	"89755056"	"subst"	"2.43659E-5"	"00004"	"RLBP1_000034"	"g.89755056A>G"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000685427"	"0"	"90"	"15"	"89760400"	"89760411"	"del"	"4.07093E-6"	"00004"	"RLBP1_000009"	"g.89760400_89760411del"	"2/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000686107"	"3"	"90"	"15"	"0"	"0"	""	"0"	"00006"	"IGF1R_000000"	"g.?"	""	"{PMID:Bocquet 2013:24339724}"	""	"del ex7-9"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000686112"	"3"	"90"	"15"	"89758329"	"89758329"	"dup"	"0"	"00006"	"RLBP1_000040"	"g.89758329dup"	""	"{PMID:Bocquet 2013:24339724}"	""	"488insA"	""	"Germline"	""	""	"0"	""	""	"g.89215098dup"	""	"pathogenic (recessive)"	""
"0000691896"	"0"	"30"	"15"	"89758479"	"89758479"	"subst"	"0.000109987"	"01943"	"RLBP1_000041"	"g.89758479G>A"	""	""	""	"RLBP1(NM_000326.4):c.347-10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000691897"	"0"	"30"	"15"	"89760394"	"89760394"	"subst"	"0.000615131"	"01943"	"RLBP1_000042"	"g.89760394G>A"	""	""	""	"RLBP1(NM_000326.4):c.303C>T (p.R101=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000713363"	"3"	"90"	"15"	"89754981"	"89754981"	"subst"	"4.06141E-5"	"00000"	"RLBP1_000039"	"g.89754981A>T"	""	"{PMID:Carss 2017:28041643}"	""	"15:89754981A>T ENST00000268125.5:c.677T>A (Met226Lys)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000725355"	"0"	"50"	"15"	"89758291"	"89758291"	"subst"	"0"	"02327"	"RLBP1_000043"	"g.89758291C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000733226"	"3"	"70"	"15"	"89761912"	"89761912"	"subst"	"3.6566E-5"	"00000"	"RLBP1_000044"	"g.89761912G>A"	""	"{PMID:Stone 2017:28559085}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.89218681G>A"	""	"likely pathogenic"	""
"0000736064"	"3"	"90"	"15"	"89758350"	"89758350"	"subst"	"2.03031E-5"	"00000"	"RLBP1_000002"	"g.89758350G>A"	""	"{PMID:Huang 2018:29641573}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.89215119G>A"	""	"pathogenic"	""
"0000764125"	"1"	"90"	"15"	"89755113"	"89755113"	"subst"	"0.000719103"	"04043"	"RLBP1_000028"	"g.89755113A>C"	""	"{PMID:Fadaie 2021:34795310}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.89211882A>C"	""	"pathogenic (recessive)"	""
"0000764154"	"2"	"70"	"15"	"89757858"	"89757866"	"delins"	"0"	"04043"	"RLBP1_000045"	"g.89757858_89757866delinsTAT"	""	"{PMID:Fadaie 2021:34795310}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.89214627_89214635delinsTAT"	""	"likely pathogenic (recessive)"	""
"0000764902"	"3"	"70"	"15"	"89758421"	"89758421"	"del"	"0"	"00000"	"RLBP1_000037"	"g.89758421del"	""	"{PMID:Weisschuh 2016:26766544}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.89215190del"	""	"likely pathogenic (recessive)"	""
"0000765748"	"0"	"70"	"15"	"89758364"	"89758364"	"subst"	"8.12117E-6"	"00000"	"RLBP1_000022"	"g.89758364C>T"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.89215133C>T"	""	"likely pathogenic"	""
"0000765784"	"0"	"70"	"15"	"89760405"	"89760416"	"del"	"0"	"00000"	"RLBP1_000009"	"g.89760405_89760416del"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.89217174_89217185del"	""	"likely pathogenic"	""
"0000765894"	"0"	"70"	"15"	"89753952"	"89753952"	"subst"	"0"	"00000"	"RLBP1_000046"	"g.89753952A>C"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.89210721A>C"	""	"likely pathogenic"	""
"0000784350"	"0"	"70"	"15"	"89758328"	"89758328"	"subst"	"0.000133999"	"00000"	"RLBP1_000047"	"g.89758328A>G"	"1/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	"rs116677006"	"0"	""	""	"g.89215097A>G"	""	"likely pathogenic (recessive)"	""
"0000784463"	"0"	"50"	"15"	"89760506"	"89760506"	"subst"	"0.000980118"	"00000"	"RLBP1_000019"	"g.89760506C>T"	"3/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	"rs201865787"	"0"	""	""	"g.89217275C>T"	""	"VUS"	""
"0000784507"	"0"	"50"	"15"	"89760506"	"89760506"	"subst"	"0.000980118"	"00000"	"RLBP1_000019"	"g.89760506C>T"	"3/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.89217275C>T"	""	"VUS"	""
"0000784568"	"0"	"50"	"15"	"89760506"	"89760506"	"subst"	"0.000980118"	"00000"	"RLBP1_000019"	"g.89760506C>T"	"3/314 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.89217275C>T"	""	"VUS"	""
"0000787640"	"3"	"70"	"15"	"89760415"	"89760415"	"del"	"8.94774E-5"	"00000"	"RLBP1_000012"	"g.89760415del"	""	"{PMID:Huang 2015:25356976}"	""	"282delC"	""	"Germline"	"yes"	""	"0"	""	""	"g.89217184del"	""	"likely pathogenic"	""
"0000787644"	"3"	"70"	"15"	"89760415"	"89760415"	"del"	"8.94774E-5"	"00000"	"RLBP1_000012"	"g.89760415del"	""	"{PMID:Huang 2015:25356976}"	""	"282delC"	""	"Germline"	"yes"	""	"0"	""	""	"g.89217184del"	""	"likely pathogenic"	""
"0000788488"	"0"	"50"	"15"	"89755011"	"89755011"	"subst"	"7.30964E-5"	"00000"	"RLBP1_000026"	"g.89755011C>T"	""	"{PMID:Katagiri 2014:25268133}"	""	"G647A"	""	"Germline"	""	"rs200488706"	"0"	""	""	"g.89211780C>T"	""	"VUS"	""
"0000790139"	"3"	"90"	"15"	"89758365"	"89758365"	"subst"	"0"	"00000"	"RLBP1_000048"	"g.89758365G>A"	""	"{PMID:Singh 2009:19339744}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000790140"	"3"	"90"	"15"	"89758365"	"89758365"	"subst"	"0"	"00000"	"RLBP1_000048"	"g.89758365G>A"	""	"{PMID:Singh 2009:19339744}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000790545"	"0"	"50"	"15"	"89760343"	"89760348"	"del"	"0.00886363"	"00000"	"RLBP1_000008"	"g.89760343_89760348del"	""	"{PMID:Wang 2014:25097241}"	""	"c.346+3_346+8delGAGGCC"	""	"Germline"	""	""	"0"	""	""	"g.89217112_89217117del"	""	"VUS"	""
"0000790938"	"0"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	""	"{PMID:Golovleva-2010:20238024}"	""	"c.700C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000790939"	"0"	"90"	"15"	"89754981"	"89754981"	"subst"	"4.06141E-5"	"00000"	"RLBP1_000039"	"g.89754981A>T"	""	"{PMID:Golovleva-2010:20238024}"	""	"c.677T>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000790940"	"0"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	""	"{PMID:Golovleva-2010:20238024}"	""	"c.700C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000790941"	"0"	"90"	"15"	"89754981"	"89754981"	"subst"	"4.06141E-5"	"00000"	"RLBP1_000039"	"g.89754981A>T"	""	"{PMID:Golovleva-2010:20238024}"	""	"c.677T>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000790942"	"0"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	""	"{PMID:Golovleva-2010:20238024}"	""	"c.700C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000790943"	"0"	"90"	"15"	"89754981"	"89754981"	"subst"	"4.06141E-5"	"00000"	"RLBP1_000039"	"g.89754981A>T"	""	"{PMID:Golovleva-2010:20238024}"	""	"c.677T>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000790944"	"0"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	""	"{PMID:Golovleva-2010:20238024}"	""	"c.700C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000790945"	"0"	"90"	"15"	"89754981"	"89754981"	"subst"	"4.06141E-5"	"00000"	"RLBP1_000039"	"g.89754981A>T"	""	"{PMID:Golovleva-2010:20238024}"	""	"c.677T>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000790946"	"0"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	""	"{PMID:Golovleva-2010:20238024}"	""	"c.700C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000790947"	"0"	"90"	"15"	"89754981"	"89754981"	"subst"	"4.06141E-5"	"00000"	"RLBP1_000039"	"g.89754981A>T"	""	"{PMID:Golovleva-2010:20238024}"	""	"c.677T>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000790948"	"0"	"30"	"15"	"0"	"0"	"subst"	"0"	"00000"	"IGF1R_000000"	"g.?"	""	"{PMID:Golovleva-2010:20238024}"	""	"c.40C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000790949"	"0"	"30"	"15"	"0"	"0"	"subst"	"0"	"00000"	"IGF1R_000000"	"g.?"	"6/143 healthy blood donors"	"{PMID:Golovleva-2010:20238024}"	""	"c.40C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000792060"	"3"	"90"	"15"	"89758365"	"89758365"	"subst"	"0"	"00000"	"RLBP1_000048"	"g.89758365G>A"	""	"{PMID:Avila Fernandez 2010:21151602}"	""	"c.451C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792061"	"3"	"90"	"15"	"89758365"	"89758365"	"subst"	"0"	"00000"	"RLBP1_000048"	"g.89758365G>A"	""	"{PMID:Avila Fernandez 2010:21151602}"	""	"c.451C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000793739"	"3"	"70"	"15"	"89760483"	"89760483"	"subst"	"0"	"00000"	"RLBP1_000051"	"g.89760483C>G"	"0/360 controls"	"{PMID:Collin-2011:21217109}"	""	"c.214G>C"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000793740"	"3"	"50"	"15"	"89753516"	"89758291"	"del"	"0"	"00000"	"RLBP1_000050"	"g.89753516_89758291del"	""	"{PMID:Collin-2011:21217109}"	""	"c.525_954del"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000793879"	"3"	"70"	"15"	"89753097"	"89755133"	"del"	"0"	"00000"	"RLBP1_000049"	"g.89753097_89755133del"	""	"{PMID:Littink-2012:22559933}"	""	"c.Exon7-9_del"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000793880"	"3"	"70"	"15"	"89753097"	"89755133"	"del"	"0"	"00000"	"RLBP1_000049"	"g.89753097_89755133del"	""	"{PMID:Littink-2012:22559933}"	""	"c.Exon7-9_del"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000793881"	"3"	"70"	"15"	"89753097"	"89755133"	"del"	"0"	"00000"	"RLBP1_000049"	"g.89753097_89755133del"	""	"{PMID:Littink-2012:22559933}"	""	"c.Exon7-9_del"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000793882"	"3"	"70"	"15"	"89753097"	"89755133"	"del"	"0"	"00000"	"RLBP1_000049"	"g.89753097_89755133del"	""	"{PMID:Littink-2012:22559933}"	""	"c.Exon7-9_del"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000793883"	"3"	"70"	"15"	"89753097"	"89755133"	"del"	"0"	"00000"	"RLBP1_000049"	"g.89753097_89755133del"	""	"{PMID:Littink-2012:22559933}"	""	"c.Exon7-9_del"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000793884"	"3"	"70"	"15"	"89760556"	"89760556"	"subst"	"0"	"00000"	"RLBP1_000052"	"g.89760556C>T"	""	"{PMID:Littink-2012:22559933}"	""	"c.142-1G>A, splice defect"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000793885"	"3"	"70"	"15"	"89760556"	"89760556"	"subst"	"0"	"00000"	"RLBP1_000052"	"g.89760556C>T"	""	"{PMID:Littink-2012:22559933}"	""	"c.142-1G>A, splice defect"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000793886"	"3"	"70"	"15"	"89753577"	"89753577"	"subst"	"2.03204E-5"	"00000"	"RLBP1_000023"	"g.89753577C>T"	"0/376 controls"	"{PMID:Littink-2012:22559933}"	""	"c.893G>A, p.G298D"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000794373"	"0"	"90"	"15"	"89753662"	"89753662"	"del"	"0"	"00000"	"RLBP1_000053"	"g.89753662del"	""	"{PMID:Wang 2018:30029497}"	""	"NM_000326.4:c.811del, NP_000317.1:p.(Asp271MetfsTer58), NC_000015.9:g.89753662del"	""	"Germline"	"?"	""	"0"	""	""	"g.89210431del"	""	"pathogenic"	"ACMG"
"0000794374"	"0"	"90"	"15"	"89761894"	"89761904"	"del"	"0"	"00000"	"RLBP1_000056"	"g.89761894_89761904del"	""	"{PMID:Wang 2018:30029497}"	""	"NM_000326.4:c.34_44del, NP_000317.1:p.(Pro12ThrfsTer36), NC_000015.9:g.89761894_89761904del"	""	"Germline"	"?"	""	"0"	""	""	"g.89218663_89218673del"	""	"pathogenic"	"ACMG"
"0000794990"	"3"	"50"	"15"	"89758370"	"89758370"	"subst"	"0"	"00000"	"RLBP1_000055"	"g.89758370G>A"	""	"{PMID:Abu-Safieh-2013:23105016}"	""	"c.446C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000794994"	"3"	"50"	"15"	"89758364"	"89758364"	"subst"	"8.12117E-6"	"00000"	"RLBP1_000022"	"g.89758364C>T"	""	"{PMID:Abu-Safieh-2013:23105016}"	""	"c.452G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000795068"	"3"	"90"	"15"	"89758327"	"89758328"	"ins"	"0"	"00000"	"RLBP1_000054"	"g.89758327_89758328insT"	""	"{PMID:Bocquet-2013:23350551}"	""	"c.488insA"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000795069"	"3"	"90"	"15"	"89753097"	"89755133"	"del"	"0"	"00000"	"RLBP1_000049"	"g.89753097_89755133del"	""	"{PMID:Bocquet-2013:23350551}"	""	"DelExons7-9 (p.Ile176_Phe317del)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000796706"	"0"	"70"	"15"	"89755113"	"89755113"	"subst"	"0.000719103"	"00000"	"RLBP1_000028"	"g.89755113A>C"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.545T>G"	""	"Germline"	""	"rs142244640"	"0"	""	""	""	""	"likely pathogenic"	""
"0000796851"	"0"	"70"	"15"	"89760443"	"89760443"	"subst"	"8.15694E-6"	"00000"	"RLBP1_000057"	"g.89760443G>A"	""	"{PMID:Eisenberger-2013:24265693}"	""	"c.254C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000797098"	"3"	"90"	"15"	"89758365"	"89758365"	"subst"	"0"	"00000"	"RLBP1_000048"	"g.89758365G>A"	""	"{PMID:Birtel 2018:30543658}"	""	"c.451C>T, p.Arg151Trp"	"Homozygous"	"Germline"	"?"	""	"0"	""	""	"g.89215134G>A"	""	"pathogenic"	"ACMG"
"0000797701"	"0"	"90"	"15"	"0"	"0"	""	"0"	"00000"	"IGF1R_000000"	"g.?"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"NR2E3 c.119-2A>C, p.(?) c.932G>A, p.(Arg311Gln) RLBP1 c.(525+1_526-1) _(*1_?)del"	""	"Germline"	"?"	""	"0"	""	""	"g.?"	""	"pathogenic"	"ACMG"
"0000798065"	"0"	"70"	"15"	"89760351"	"89760351"	"subst"	"4.09313E-6"	"00000"	"RLBP1_000003"	"g.89760351C>G"	""	"{PMID:Jespersgaar 2019:30718709}"	""	"RLBP1 c.346G>C, p.(Gly116Arg)"	"single heterozygous variant (recessive)"	"Germline"	"?"	""	"0"	""	""	"g.89217120C>G"	""	"likely pathogenic"	"ACMG"
"0000806992"	"0"	"30"	"15"	"89755113"	"89755113"	"subst"	"0.000719103"	"02330"	"RLBP1_000028"	"g.89755113A>C"	""	""	""	"RLBP1(NM_000326.4):c.545T>G (p.F182C), RLBP1(NM_000326.5):c.545T>G (p.F182C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000812041"	"3"	"70"	"15"	"89758311"	"89758315"	"del"	"0"	"00000"	"RLBP1_000058"	"g.89758311_89758315del"	""	"{PMID:Martin Merida 2019:30902645}"	""	"RLBP1 Ex.6 c.504_508del p.(Ser168Argfs*5), Ex.6 c.504_508del p.(Ser168Argfs*5)"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.89215080_89215084del"	""	"likely pathogenic"	""
"0000812226"	"0"	"70"	"15"	"89760365"	"89760365"	"dup"	"0"	"00000"	"RLBP1_000059"	"g.89760365dup"	""	"{PMID:Martin Merida 2019:30902645}"	""	"RLBP1 Ex.5 c.332dup p.(Tyr111*), Ex.6 c.504_508del p.(Ser168Argfs*5)"	"compound heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.89217134dup"	""	"likely pathogenic"	""
"0000812227"	"0"	"70"	"15"	"89758311"	"89758315"	"del"	"0"	"00000"	"RLBP1_000058"	"g.89758311_89758315del"	""	"{PMID:Martin Merida 2019:30902645}"	""	"RLBP1 Ex.5 c.332dup p.(Tyr111*), Ex.6 c.504_508del p.(Ser168Argfs*5)"	"compound heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.89215080_89215084del"	""	"likely pathogenic"	""
"0000813191"	"0"	"70"	"15"	"89753595"	"89753595"	"subst"	"0"	"00000"	"RLBP1_000060"	"g.89753595T>A"	"0/200 controls"	"{PMID:González-del Pozo-2011:22164218}"	""	"c.875A.T"	"A not found at position 1255, found C instead."	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000814271"	"1"	"70"	"15"	"89760415"	"89760415"	"del"	"8.94774E-5"	"00000"	"RLBP1_000012"	"g.89760415del"	""	"{PMID:Chen 2020:31872526}"	""	"RLBP1:NM_000326:exon5:c.282delC:p.G94fs"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.89217184del"	""	"likely pathogenic"	""
"0000814298"	"2"	"70"	"15"	"89760349"	"89760349"	"subst"	"0"	"00000"	"RLBP1_000061"	"g.89760349A>C"	""	"{PMID:Chen 2020:31872526}"	""	"RLBP1:splicing:c.346+2T>G"	"compound heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.89217118A>C"	""	"likely pathogenic"	""
"0000819599"	"1"	"70"	"15"	"89760439"	"89760442"	"dup"	"0"	"00000"	"RLBP1_000064"	"g.89760439_89760442dup"	""	"{PMID:Weisschuh 2020:32531858}"	""	"RLBP1, variant 1: c.255_258dup/p.R87Gfs*27, variant 2: c.255_258dup/p.R87Gfs*27"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.89217208_89217211dup"	""	"likely pathogenic"	""
"0000819848"	"1"	"70"	"15"	"89754974"	"89754974"	"del"	"0"	"00000"	"RLBP1_000062"	"g.89754974del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"RLBP1, variant 1: c.684+1delG/p.?, variant 2: c.684+1delG/p.?"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.89211743del"	""	"likely pathogenic"	""
"0000819849"	"1"	"70"	"15"	"89754974"	"89754974"	"del"	"0"	"00000"	"RLBP1_000062"	"g.89754974del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"RLBP1, variant 1: c.684+1delG/p.?, variant 2: c.684+1delG/p.?"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.89211743del"	""	"likely pathogenic"	""
"0000820405"	"1"	"70"	"15"	"89760494"	"89760494"	"del"	"0"	"00000"	"RLBP1_000065"	"g.89760494del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"RLBP1, variant 1: c.203del/p.E68Gfs*51, variant 2: c.203del/p.E68Gfs*51"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.89217263del"	""	"likely pathogenic"	""
"0000820445"	"1"	"70"	"15"	"89758308"	"89758308"	"subst"	"0"	"00000"	"RLBP1_000063"	"g.89758308C>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"RLBP1, variant 1: c.508G>T/p.E170*, variant 2: c.893G>A/p.G298D"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.89215077C>A"	""	"likely pathogenic"	""
"0000820917"	"1"	"70"	"15"	"89753577"	"89753577"	"subst"	"2.03204E-5"	"00000"	"RLBP1_000023"	"g.89753577C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"RLBP1, variant 1: c.508G>T/p.E170*, variant 2: c.893G>A/p.G298D"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.89210346C>T"	""	"likely pathogenic"	""
"0000821360"	"3"	"90"	"15"	"89754981"	"89754981"	"subst"	"4.06141E-5"	"00000"	"RLBP1_000039"	"g.89754981A>T"	""	"{PMID:Turro 2020:32581362}"	""	"RLBP1 c.677T>A, p.Met226Lys"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.89211750A>T"	""	"pathogenic"	""
"0000821361"	"0"	"70"	"15"	"89750128"	"89757489"	"del"	"0"	"00000"	"IGF1R_000000"	"g.89750128_89757489del"	""	"{PMID:Turro 2020:32581362}"	""	"chr15:g.89750128_89757489del"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000821470"	"3"	"70"	"15"	"89750128"	"89757489"	"del"	"0"	"00000"	"IGF1R_000000"	"g.89750128_89757489del"	""	"{PMID:Turro 2020:32581362}"	""	"chr15:g.89750128_89757489del"	"homozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000824933"	"11"	"50"	"15"	"89762276"	"89762276"	"subst"	"0"	"00000"	"RLBP1_000066"	"g.89762276C>T"	""	"{PMID:Donato-2021:33801777}"	""	"RLBP1 c.-70 G > A, p.(?), rs3743384"	"heterozygous"	"Germline"	"yes"	"rs3743384"	"0"	""	""	"g.89219045C>T"	""	"VUS"	""
"0000824937"	"11"	"50"	"15"	"89762276"	"89762276"	"subst"	"0"	"00000"	"RLBP1_000066"	"g.89762276C>T"	""	"{PMID:Donato-2021:33801777}"	""	"RLBP1 c.-70 G > A, p.(?), rs3743384"	"heterozygous"	"Germline"	"yes"	"rs3743384"	"0"	""	""	"g.89219045C>T"	""	"VUS"	""
"0000825892"	"0"	"70"	"15"	"89753659"	"89753659"	"del"	"0"	"00000"	"RLBP1_000053"	"g.89753659del"	""	"{PMID:Liu-2020:33090715}"	""	"c.811delG"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000825893"	"0"	"70"	"15"	"89761893"	"89761903"	"del"	"0"	"00000"	"RLBP1_000056"	"g.89761893_89761903del"	""	"{PMID:Liu-2020:33090715}"	""	"c.34_44del11bp"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000826948"	"0"	"90"	"15"	"89754981"	"89754981"	"subst"	"4.06141E-5"	"00000"	"RLBP1_000039"	"g.89754981A>T"	""	"{PMID:Thorsteinsson 2021:33851411}"	""	"RLBP1 c.677T>A, p.Met226Lys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.89211750A>T"	""	"pathogenic"	""
"0000826949"	"0"	"90"	"15"	"89753638"	"89753638"	"subst"	"1.22466E-5"	"00000"	"RLBP1_000067"	"g.89753638G>A"	""	"{PMID:Thorsteinsson 2021:33851411}"	""	"RLBP1 c.832C>T, p.Gln278*"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.89210407G>A"	""	"pathogenic"	""
"0000826950"	"0"	"90"	"15"	"89754981"	"89754981"	"subst"	"4.06141E-5"	"00000"	"RLBP1_000039"	"g.89754981A>T"	""	"{PMID:Thorsteinsson 2021:33851411}"	""	"RLBP1 c.677T>A, p.Met226Lys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.89211750A>T"	""	"pathogenic"	""
"0000826951"	"0"	"90"	"15"	"89753638"	"89753638"	"subst"	"1.22466E-5"	"00000"	"RLBP1_000067"	"g.89753638G>A"	""	"{PMID:Thorsteinsson 2021:33851411}"	""	"RLBP1 c.832C>T, p.Gln278*"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.89210407G>A"	""	"pathogenic"	""
"0000826952"	"0"	"90"	"15"	"89754981"	"89754981"	"subst"	"4.06141E-5"	"00000"	"RLBP1_000039"	"g.89754981A>T"	""	"{PMID:Thorsteinsson 2021:33851411}"	""	"RLBP1 c.677T>A, p.Met226Lys"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.89211750A>T"	""	"pathogenic"	""
"0000826953"	"0"	"90"	"15"	"89753638"	"89753638"	"subst"	"1.22466E-5"	"00000"	"RLBP1_000067"	"g.89753638G>A"	""	"{PMID:Thorsteinsson 2021:33851411}"	""	"RLBP1 c.832C>T, p.Gln278*"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.89210407G>A"	""	"pathogenic"	""
"0000826954"	"3"	"90"	"15"	"89753638"	"89753638"	"subst"	"1.22466E-5"	"00000"	"RLBP1_000067"	"g.89753638G>A"	""	"{PMID:Thorsteinsson 2021:33851411}"	""	"RLBP1 c.832C>T, p.Gln278*"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.89210407G>A"	""	"pathogenic"	""
"0000827319"	"0"	"70"	"15"	"89758379"	"89758379"	"subst"	"8.12123E-6"	"00000"	"RLBP1_000068"	"g.89758379C>T"	""	"{PMID:Colombo-2020:33576794}"	""	"c.437G>A"	""	"Germline"	""	"rs757444687"	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000827320"	"0"	"90"	"15"	"89761925"	"89761926"	"delins"	"0"	"00000"	"RLBP1_000069"	"g.89761925_89761926delinsGG"	""	"{PMID:Colombo-2020:33576794}"	""	"c.(13-2)_(13-1)delinsCC"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000827321"	"3"	"90"	"15"	"89758418"	"89758418"	"del"	"0"	"00000"	"RLBP1_000037"	"g.89758418del"	""	"{PMID:Colombo-2020:33576794}"	""	"c.398del"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000828764"	"0"	"50"	"15"	"89761882"	"89761882"	"subst"	"0"	"00000"	"RLBP1_000020"	"g.89761882G>A"	""	"{PMID:Chen 2021:43360855}"	""	"RLBP1 c.55C>T(;)282del, V1: c.55C>T, (p.Arg19Cys)"	"alleles in cis or trans; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.89218651G>A"	""	"VUS"	"ACMG"
"0000828849"	"3"	"90"	"15"	"89760415"	"89760415"	"del"	"8.94774E-5"	"00000"	"RLBP1_000012"	"g.89760415del"	""	"{PMID:Chen 2021:43360855}"	""	"RLBP1 c.[282del];[282del], V1: c.282delC, (p.Phe95SerfsTer24)"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.89217184del"	""	"pathogenic"	"ACMG"
"0000828879"	"0"	"90"	"15"	"89760415"	"89760415"	"del"	"8.94774E-5"	"00000"	"RLBP1_000012"	"g.89760415del"	""	"{PMID:Chen 2021:43360855}"	""	"RLBP1 c.[282del];[282del], V1: c.282delC, (p.Phe95SerfsTer24)"	"alleles in trans; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.89217184del"	""	"pathogenic"	"ACMG"
"0000828969"	"0"	"90"	"15"	"89760415"	"89760415"	"del"	"8.94774E-5"	"00000"	"RLBP1_000012"	"g.89760415del"	""	"{PMID:Chen 2021:43360855}"	""	"RLBP1 c.55C>T(;)282del, V2: c.282delC, (p.Phe95SerfsTer24)"	"alleles in cis or trans; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.89217184del"	""	"pathogenic"	"ACMG"
"0000833354"	"3"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	"3 heterozygous/250"	"{PMID:Burstedt 1999:10102298}"	""	"RLPB1 c.700C>T, p.(Arg234Trp)"	"homozygous"	"Germline"	"yes"	"rs28933990"	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833355"	"3"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	"3 heterozygous/250"	"{PMID:Burstedt 1999:10102298}"	""	"RLPB1 c.700C>T, p.(Arg234Trp)"	"homozygous"	"Germline"	"yes"	"rs28933990"	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833356"	"3"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	"3 heterozygous/250"	"{PMID:Burstedt 1999:10102298}"	""	"RLPB1 c.700C>T, p.(Arg234Trp)"	"homozygous"	"Germline"	"yes"	"rs28933990"	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833357"	"3"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	"3 heterozygous/250"	"{PMID:Burstedt 1999:10102298}"	""	"RLPB1 c.700C>T, p.(Arg234Trp)"	"homozygous"	"Germline"	"yes"	"rs28933990"	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833358"	"3"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	"3 heterozygous/250"	"{PMID:Burstedt 1999:10102298}"	""	"RLPB1 c.700C>T, p.(Arg234Trp)"	"homozygous"	"Germline"	"yes"	"rs28933990"	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833359"	"3"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	"3 heterozygous/250"	"{PMID:Burstedt 1999:10102298}"	""	"RLPB1 c.700C>T, p.(Arg234Trp)"	"homozygous"	"Germline"	"yes"	"rs28933990"	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833360"	"3"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	"3 heterozygous/250"	"{PMID:Burstedt 1999:10102298}"	""	"RLPB1 c.700C>T, p.(Arg234Trp)"	"homozygous"	"Germline"	"yes"	"rs28933990"	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833361"	"3"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	"3 heterozygous/250"	"{PMID:Burstedt 1999:10102298}"	""	"RLPB1 c.700C>T, p.(Arg234Trp)"	"homozygous"	"Germline"	"yes"	"rs28933990"	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833362"	"3"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	"3 heterozygous/250"	"{PMID:Burstedt 1999:10102298}"	""	"RLPB1 c.700C>T, p.(Arg234Trp)"	"homozygous"	"Germline"	"yes"	"rs28933990"	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833363"	"3"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	"3 heterozygous/250"	"{PMID:Burstedt 1999:10102298}"	""	"RLPB1 c.700C>T, p.(Arg234Trp)"	"homozygous"	"Germline"	"yes"	"rs28933990"	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833364"	"3"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	"3 heterozygous/250"	"{PMID:Burstedt 1999:10102298}"	""	"RLPB1 c.700C>T, p.(Arg234Trp)"	"homozygous"	"Germline"	"yes"	"rs28933990"	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833365"	"3"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	"3 heterozygous/250"	"{PMID:Burstedt 1999:10102298}"	""	"RLPB1 c.700C>T, p.(Arg234Trp)"	"homozygous"	"Germline"	"yes"	"rs28933990"	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833366"	"3"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	"3 heterozygous/250"	"{PMID:Burstedt 1999:10102298}"	""	"RLPB1 c.700C>T, p.(Arg234Trp)"	"homozygous"	"Germline"	"yes"	"rs28933990"	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833367"	"3"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	"3 heterozygous/250"	"{PMID:Burstedt 1999:10102298}"	""	"RLPB1 c.700C>T, p.(Arg234Trp)"	"homozygous"	"Germline"	"yes"	"rs28933990"	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833368"	"3"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	"3 heterozygous/250"	"{PMID:Burstedt 1999:10102298}"	""	"RLPB1 c.700C>T, p.(Arg234Trp)"	"homozygous"	"Germline"	"yes"	"rs28933990"	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833369"	"3"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	"3 heterozygous/250"	"{PMID:Burstedt 1999:10102298}"	""	"RLPB1 c.700C>T, p.(Arg234Trp)"	"homozygous"	"Germline"	"yes"	"rs28933990"	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833370"	"3"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	"3 heterozygous/250"	"{PMID:Burstedt 1999:10102298}"	""	"RLPB1 c.700C>T, p.(Arg234Trp)"	"homozygous"	"Germline"	"yes"	"rs28933990"	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833371"	"3"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	"3 heterozygous/250"	"{PMID:Burstedt 1999:10102298}"	""	"RLPB1 c.700C>T, p.(Arg234Trp)"	"homozygous"	"Germline"	"yes"	"rs28933990"	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833372"	"3"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	"3 heterozygous/250"	"{PMID:Burstedt 1999:10102298}"	""	"RLPB1 c.700C>T, p.(Arg234Trp)"	"homozygous"	"Germline"	"yes"	"rs28933990"	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833373"	"3"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	"3 heterozygous/250"	"{PMID:Burstedt 1999:10102298}"	""	"RLPB1 c.700C>T, p.(Arg234Trp)"	"homozygous"	"Germline"	"yes"	"rs28933990"	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833432"	"3"	"70"	"15"	"89753639"	"89753639"	"del"	"0"	"00000"	"RLBP1_000070"	"g.89753639del"	"0/69 controls"	"{PMID:Morimura 1999:10102299}"	""	"9483delC,  Gln*278(l-bp del) (GAG to -AG)"	"error in annotation, del C is CAG to -AG, and not GAG to -AG; annotation obsolete, this change is probably c.832del"	"Germline"	"yes"	""	"0"	""	""	"g.89210408del"	""	"likely pathogenic"	""
"0000833433"	"21"	"70"	"15"	"89761794"	"89761794"	"subst"	"8.1242E-6"	"00000"	"RLBP1_000073"	"g.89761794A>G"	"0/69 controls"	"{PMID:Morimura 1999:10102299}"	""	"1335T>C,  IVS3+2 (GT to GC)"	"annotation obsolete, this change is probably c.141+2T>C, transcript used not indicated but was probably different without exon 1 that is present in NM_000326.4"	"Germline"	"yes"	""	"0"	""	""	"g.89218563A>G"	""	"likely pathogenic"	""
"0000833434"	"11"	"70"	"15"	"89754981"	"89754981"	"subst"	"4.06141E-5"	"00000"	"RLBP1_000039"	"g.89754981A>T"	"0/69 controls"	"{PMID:Morimura 1999:10102299}"	""	"8140T>A, Met226Lys+ (ATG to AAG)"	"annotation obsolete, this change is probably 700C>T"	"Germline"	"yes"	""	"0"	""	""	"g.89211750A>T"	""	"likely pathogenic"	""
"0000833435"	"3"	"90"	"15"	"89758364"	"89758364"	"subst"	"8.12117E-6"	"00000"	"RLBP1_000022"	"g.89758364C>T"	""	"{PMID:Maw 1997:9326942}"	""	"G4763A, R150Q"	"annotation obsolete, this change is probably c.452G>A; other transcriot used, arginine is not on position 150 but 151 in NM_000326.4; homozygous"	"Germline"	"yes"	"rs137853290"	"0"	""	""	"g.89215133C>T"	"VCV000013097.3"	"pathogenic"	""
"0000833436"	"3"	"90"	"15"	"89758364"	"89758364"	"subst"	"8.12117E-6"	"00000"	"RLBP1_000022"	"g.89758364C>T"	""	"{PMID:Maw 1997:9326942}"	""	"G4763A, R150Q"	"annotation obsolete, this change is probably c.452G>A; other transcriot used, arginine is not on position 150 but 151 in NM_000326.4; homozygous"	"Germline"	"yes"	"rs137853290"	"0"	""	""	"g.89215133C>T"	"VCV000013097.4"	"pathogenic"	""
"0000833437"	"3"	"90"	"15"	"89758364"	"89758364"	"subst"	"8.12117E-6"	"00000"	"RLBP1_000022"	"g.89758364C>T"	""	"{PMID:Maw 1997:9326942}"	""	"G4763A, R150Q"	"annotation obsolete, this change is probably c.452G>A; other transcriot used, arginine is not on position 150 but 151 in NM_000326.4; homozygous"	"Germline"	"yes"	"rs137853290"	"0"	""	""	"g.89215133C>T"	"VCV000013097.5"	"pathogenic"	""
"0000833438"	"3"	"90"	"15"	"89758364"	"89758364"	"subst"	"8.12117E-6"	"00000"	"RLBP1_000022"	"g.89758364C>T"	""	"{PMID:Maw 1997:9326942}"	""	"G4763A, R150Q"	"annotation obsolete, this change is probably c.452G>A; other transcriot used, arginine is not on position 150 but 151 in NM_000326.4; homozygous"	"Germline"	"yes"	"rs137853290"	"0"	""	""	"g.89215133C>T"	"VCV000013097.6"	"pathogenic"	""
"0000833441"	"3"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	""	"{PMID:Granse 2001:11449319}"	""	"RLBP1 p.(Arg234Trp)"	"annotation obsolete, this change is probably c.700C>T; homozygous"	"Germline"	"yes"	"rs28933988"	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833442"	"3"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	""	"{PMID:Granse 2001:11449319}"	""	"RLBP1 p.(Arg234Trp)"	"annotation obsolete, this change is probably c.700C>T; homozygous"	"Germline"	"yes"	"rs28933990"	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833458"	"3"	"70"	"15"	"89761796"	"89761796"	"subst"	"8.12407E-6"	"00000"	"RLBP1_000074"	"g.89761796C>T"	""	"{PMID:Eichers 2002:11868161}"	""	"324G>A"	"annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous"	"Germline"	"yes"	"rs766278489"	"0"	""	""	"g.89218565C>T"	""	"likely pathogenic"	""
"0000833459"	"3"	"70"	"15"	"89761796"	"89761796"	"subst"	"8.12407E-6"	"00000"	"RLBP1_000074"	"g.89761796C>T"	""	"{PMID:Eichers 2002:11868161}"	""	"324G>A"	"annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous"	"Germline"	"yes"	"rs766278489"	"0"	""	""	"g.89218565C>T"	""	"likely pathogenic"	""
"0000833460"	"3"	"70"	"15"	"89761796"	"89761796"	"subst"	"8.12407E-6"	"00000"	"RLBP1_000074"	"g.89761796C>T"	""	"{PMID:Eichers 2002:11868161}"	""	"324G>A"	"annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous"	"Germline"	"yes"	"rs766278489"	"0"	""	""	"g.89218565C>T"	""	"likely pathogenic"	""
"0000833461"	"3"	"70"	"15"	"89761796"	"89761796"	"subst"	"8.12407E-6"	"00000"	"RLBP1_000074"	"g.89761796C>T"	""	"{PMID:Eichers 2002:11868161}"	""	"324G>A"	"annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous"	"Germline"	"yes"	"rs766278489"	"0"	""	""	"g.89218565C>T"	""	"likely pathogenic"	""
"0000833462"	"3"	"70"	"15"	"89761796"	"89761796"	"subst"	"8.12407E-6"	"00000"	"RLBP1_000074"	"g.89761796C>T"	""	"{PMID:Eichers 2002:11868161}"	""	"324G>A"	"annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous"	"Germline"	"yes"	"rs766278489"	"0"	""	""	"g.89218565C>T"	""	"likely pathogenic"	""
"0000833463"	"21"	"70"	"15"	"89761794"	"89761794"	"subst"	"8.1242E-6"	"00000"	"RLBP1_000073"	"g.89761794A>G"	""	"{PMID:Eichers 2002:11868161}"	""	"IVS3+2 T>C"	"annotation obsolete, this change is probably c.141+2T>C, transcript used not indicated but was probably different without exon 1 that is present in NM_000326.4; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89218563A>G"	""	"likely pathogenic"	""
"0000833464"	"21"	"70"	"15"	"89761794"	"89761794"	"subst"	"8.1242E-6"	"00000"	"RLBP1_000073"	"g.89761794A>G"	""	"{PMID:Eichers 2002:11868161}"	""	"IVS3+2 T>C"	"annotation obsolete, this change is probably c.141+2T>C, transcript used not indicated but was probably different without exon 1 that is present in NM_000326.4; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89218563A>G"	""	"likely pathogenic"	""
"0000833465"	"3"	"70"	"15"	"89761794"	"89761794"	"subst"	"8.1242E-6"	"00000"	"RLBP1_000073"	"g.89761794A>G"	""	"{PMID:Eichers 2002:11868161}"	""	"IVS3+2 T>C"	"annotation obsolete, this change is probably c.141+2T>C, transcript used not indicated but was probably different without exon 1 that is present in NM_000326.4; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89218563A>G"	""	"likely pathogenic"	""
"0000833466"	"11"	"70"	"15"	"89761794"	"89761794"	"subst"	"8.1242E-6"	"00000"	"RLBP1_000073"	"g.89761794A>G"	""	"{PMID:Eichers 2002:11868161}"	""	"IVS3+2 T>C"	"annotation obsolete, this change is probably c.141+2T>C, transcript used not indicated but was probably different without exon 1 that is present in NM_000326.4; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89218563A>G"	""	"likely pathogenic"	""
"0000833467"	"3"	"70"	"15"	"89761796"	"89761796"	"subst"	"8.12407E-6"	"00000"	"RLBP1_000074"	"g.89761796C>T"	""	"{PMID:Eichers 2002:11868161}"	""	"324G>A"	"annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous"	"Germline"	"yes"	"rs766278489"	"0"	""	""	"g.89218565C>T"	""	"likely pathogenic"	""
"0000833468"	"3"	"70"	"15"	"89761796"	"89761796"	"subst"	"8.12407E-6"	"00000"	"RLBP1_000074"	"g.89761796C>T"	""	"{PMID:Eichers 2002:11868161}"	""	"324G>A"	"annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous"	"Germline"	"yes"	"rs766278489"	"0"	""	""	"g.89218565C>T"	""	"likely pathogenic"	""
"0000833469"	"3"	"70"	"15"	"89761796"	"89761796"	"subst"	"8.12407E-6"	"00000"	"RLBP1_000074"	"g.89761796C>T"	""	"{PMID:Eichers 2002:11868161}"	""	"324G>A"	"annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous"	"Germline"	"yes"	"rs766278489"	"0"	""	""	"g.89218565C>T"	""	"likely pathogenic"	""
"0000833470"	"10"	"70"	"15"	"89761794"	"89761794"	"subst"	"8.1242E-6"	"00000"	"RLBP1_000073"	"g.89761794A>G"	""	"{PMID:Eichers 2002:11868161}"	""	"IVS3+2 T>C"	"annotation obsolete, this change is probably c.141+2T>C, transcript used not indicated but was probably different without exon 1 that is present in NM_000326.4; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89218563A>G"	""	"likely pathogenic"	""
"0000833471"	"10"	"70"	"15"	"89761794"	"89761794"	"subst"	"8.1242E-6"	"00000"	"RLBP1_000073"	"g.89761794A>G"	""	"{PMID:Eichers 2002:11868161}"	""	"IVS3+2 T>C"	"annotation obsolete, this change is probably c.141+2T>C, transcript used not indicated but was probably different without exon 1 that is present in NM_000326.4; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89218563A>G"	""	"likely pathogenic"	""
"0000833472"	"3"	"70"	"15"	"89761796"	"89761796"	"subst"	"8.12407E-6"	"00000"	"RLBP1_000074"	"g.89761796C>T"	""	"{PMID:Eichers 2002:11868161}"	""	"324G>A"	"annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous"	"Germline"	"yes"	"rs766278489"	"0"	""	""	"g.89218565C>T"	""	"likely pathogenic"	""
"0000833473"	"3"	"70"	"15"	"89761796"	"89761796"	"subst"	"8.12407E-6"	"00000"	"RLBP1_000074"	"g.89761796C>T"	""	"{PMID:Eichers 2002:11868161}"	""	"324G>A"	"annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous"	"Germline"	"yes"	"rs766278489"	"0"	""	""	"g.89218565C>T"	""	"likely pathogenic"	""
"0000833474"	"3"	"70"	"15"	"89761796"	"89761796"	"subst"	"8.12407E-6"	"00000"	"RLBP1_000074"	"g.89761796C>T"	""	"{PMID:Eichers 2002:11868161}"	""	"324G>A"	"annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous"	"Germline"	"yes"	"rs766278489"	"0"	""	""	"g.89218565C>T"	""	"likely pathogenic"	""
"0000833475"	"3"	"70"	"15"	"89761796"	"89761796"	"subst"	"8.12407E-6"	"00000"	"RLBP1_000074"	"g.89761796C>T"	""	"{PMID:Eichers 2002:11868161}"	""	"324G>A"	"annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; homozygous"	"Germline"	"yes"	"rs766278489"	"0"	""	""	"g.89218565C>T"	""	"likely pathogenic"	""
"0000833476"	"1"	"70"	"15"	"89761794"	"89761794"	"subst"	"8.1242E-6"	"00000"	"RLBP1_000073"	"g.89761794A>G"	""	"{PMID:Eichers 2002:11868161}"	""	"IVS3+2 T>C"	"annotation obsolete, this change is probably c.141+2T>C, transcript used not indicated but was probably different without exon 1 that is present in NM_000326.4; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89218563A>G"	""	"likely pathogenic"	""
"0000833477"	"1"	"70"	"15"	"89761794"	"89761794"	"subst"	"8.1242E-6"	"00000"	"RLBP1_000073"	"g.89761794A>G"	""	"{PMID:Eichers 2002:11868161}"	""	"IVS3+2 T>C"	"annotation obsolete, this change is probably c.141+2T>C, transcript used not indicated but was probably different without exon 1 that is present in NM_000326.4; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89218563A>G"	""	"likely pathogenic"	""
"0000833478"	"11"	"70"	"15"	"89761796"	"89761796"	"subst"	"8.12407E-6"	"00000"	"RLBP1_000074"	"g.89761796C>T"	""	"{PMID:Eichers 2002:11868161}"	""	"324G>A"	"annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; heterozygous"	"Germline"	"yes"	"rs766278489"	"0"	""	""	"g.89218565C>T"	""	"likely pathogenic"	""
"0000833479"	"11"	"70"	"15"	"89761796"	"89761796"	"subst"	"8.12407E-6"	"00000"	"RLBP1_000074"	"g.89761796C>T"	""	"{PMID:Eichers 2002:11868161}"	""	"324G>A"	"annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; heterozygous"	"Germline"	"yes"	"rs766278489"	"0"	""	""	"g.89218565C>T"	""	"likely pathogenic"	""
"0000833480"	"21"	"70"	"15"	"89761796"	"89761796"	"subst"	"8.12407E-6"	"00000"	"RLBP1_000074"	"g.89761796C>T"	""	"{PMID:Eichers 2002:11868161}"	""	"324G>A"	"annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; heterozygous"	"Germline"	"yes"	"rs766278489"	"0"	""	""	"g.89218565C>T"	""	"likely pathogenic"	""
"0000833481"	"21"	"70"	"15"	"89761796"	"89761796"	"subst"	"8.12407E-6"	"00000"	"RLBP1_000074"	"g.89761796C>T"	""	"{PMID:Eichers 2002:11868161}"	""	"324G>A"	"annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; heterozygous"	"Germline"	"yes"	"rs766278489"	"0"	""	""	"g.89218565C>T"	""	"likely pathogenic"	""
"0000833482"	"21"	"70"	"15"	"89761796"	"89761796"	"subst"	"8.12407E-6"	"00000"	"RLBP1_000074"	"g.89761796C>T"	""	"{PMID:Eichers 2002:11868161}"	""	"324G>A"	"annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; heterozygous"	"Germline"	"yes"	"rs766278489"	"0"	""	""	"g.89218565C>T"	""	"likely pathogenic"	""
"0000833483"	"2"	"70"	"15"	"89761796"	"89761796"	"subst"	"8.12407E-6"	"00000"	"RLBP1_000074"	"g.89761796C>T"	""	"{PMID:Eichers 2002:11868161}"	""	"324G>A"	"annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; heterozygous"	"Germline"	"yes"	"rs766278489"	"0"	""	""	"g.89218565C>T"	""	"likely pathogenic"	""
"0000833484"	"2"	"70"	"15"	"89761796"	"89761796"	"subst"	"8.12407E-6"	"00000"	"RLBP1_000074"	"g.89761796C>T"	""	"{PMID:Eichers 2002:11868161}"	""	"324G>A"	"annotation obsolete, this change is probably c.141G>A; silent mutation with a strong suspiction of splicing alteration; heterozygous"	"Germline"	"yes"	"rs766278489"	"0"	""	""	"g.89218565C>T"	""	"likely pathogenic"	""
"0000833485"	"21"	"70"	"15"	"89758379"	"89758379"	"subst"	"8.12123E-6"	"00000"	"RLBP1_000068"	"g.89758379C>T"	""	"{PMID:Demirci 2004:15234312}"	""	"Gly145Asp (exon 5, GGTGAT)"	"annotation obsolete, this change is probably c.437G>A, p.(Gly146Asp); transcript used not indicated but was probably different without exon 1 that is present in NM_000326.4; heterozygous"	"Germline"	"yes"	"rs766278489"	"0"	""	""	"g.89215148C>T"	""	"likely pathogenic"	""
"0000833486"	"11"	"70"	"15"	"89755056"	"89755056"	"subst"	"2.43659E-5"	"00000"	"RLBP1_000034"	"g.89755056A>G"	""	"{PMID:Demirci 2004:15234312}"	""	"Ile200Thr (exon 6, ATTACT)"	"annotation obsolete, this change is probably c.602T>C , p.(Ile201Thr); transcript used not indicated but was probably different without exon 1 that is present in NM_000326.4; heterozygous"	"Germline"	"yes"	"rs766278489"	"0"	""	""	"g.89211825A>G"	""	"likely pathogenic"	""
"0000833490"	"11"	"70"	"15"	"89758379"	"89758379"	"subst"	"8.12123E-6"	"00000"	"RLBP1_000068"	"g.89758379C>T"	""	"{PMID:Nakamura 2005:15953459}"	""	"C to T at nucleotide 307 (Arg103Trp)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89215148C>T"	""	"likely pathogenic"	""
"0000833491"	"21"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	""	"{PMID:Nakamura 2005:15953459}"	""	"C to T at nucleotide 700 (Arg234Trp)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833495"	"11"	"70"	"15"	"0"	"0"	""	"0"	"00000"	"IGF1R_000000"	"g.?"	""	"{PMID:Humbert 2006:17065479}"	""	"7.36-kb homozygous deletion encompassing the last 3 exons of RLBP1 (7, 8, and 9) and part of the intergenic region between RLBP1 and ABHD2"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000833555"	"21"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	""	"{PMID:Kohn 2008:18344446}"	""	"c.[677T A]+[700C T]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833556"	"11"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	""	"{PMID:Kohn 2008:18344446}"	""	"c.[677T A]+[700C T]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833557"	"21"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	""	"{PMID:Kohn 2008:18344446}"	""	"c.[677T A]+[700C T]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833558"	"11"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	""	"{PMID:Kohn 2008:18344446}"	""	"c.[677T A]+[700C T]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833559"	"11"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	""	"{PMID:Kohn 2008:18344446}"	""	"c.[677T A]+[700C T]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833560"	"11"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	""	"{PMID:Kohn 2008:18344446}"	""	"c.[677T A]+[700C T]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833561"	"1"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	""	"{PMID:Kohn 2008:18344446}"	""	"c.[677T A]+[700C T]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833562"	"1"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	""	"{PMID:Kohn 2008:18344446}"	""	"c.[677T A]+[700C T]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833563"	"1"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	""	"{PMID:Kohn 2008:18344446}"	""	"c.[677T A]+[700C T]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833564"	"1"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	""	"{PMID:Kohn 2008:18344446}"	""	"c.[677T A]+[700C T]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833565"	"11"	"90"	"15"	"89754981"	"89754981"	"subst"	"4.06141E-5"	"00000"	"RLBP1_000039"	"g.89754981A>T"	"1/233"	"{PMID:Kohn 2008:18344446}"	""	"c.[677T A]+[700C T]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89211750A>T"	""	"pathogenic"	""
"0000833566"	"21"	"90"	"15"	"89754981"	"89754981"	"subst"	"4.06141E-5"	"00000"	"RLBP1_000039"	"g.89754981A>T"	"1/233"	"{PMID:Kohn 2008:18344446}"	""	"c.[677T A]+[700C T]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89211750A>T"	""	"pathogenic"	""
"0000833567"	"11"	"90"	"15"	"89754981"	"89754981"	"subst"	"4.06141E-5"	"00000"	"RLBP1_000039"	"g.89754981A>T"	"1/233"	"{PMID:Kohn 2008:18344446}"	""	"c.[677T A]+[700C T]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89211750A>T"	""	"pathogenic"	""
"0000833568"	"21"	"90"	"15"	"89754981"	"89754981"	"subst"	"4.06141E-5"	"00000"	"RLBP1_000039"	"g.89754981A>T"	"1/233"	"{PMID:Kohn 2008:18344446}"	""	"c.[677T A]+[700C T]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89211750A>T"	""	"pathogenic"	""
"0000833569"	"21"	"90"	"15"	"89754981"	"89754981"	"subst"	"4.06141E-5"	"00000"	"RLBP1_000039"	"g.89754981A>T"	"1/233"	"{PMID:Kohn 2008:18344446}"	""	"c.[677T A]+[700C T]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89211750A>T"	""	"pathogenic"	""
"0000833570"	"21"	"90"	"15"	"89754981"	"89754981"	"subst"	"4.06141E-5"	"00000"	"RLBP1_000039"	"g.89754981A>T"	"1/233"	"{PMID:Kohn 2008:18344446}"	""	"c.[677T A]+[700C T]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89211750A>T"	""	"pathogenic"	""
"0000833571"	"2"	"90"	"15"	"89754981"	"89754981"	"subst"	"4.06141E-5"	"00000"	"RLBP1_000039"	"g.89754981A>T"	"1/233"	"{PMID:Kohn 2008:18344446}"	""	"c.[677T A]+[700C T]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89211750A>T"	""	"pathogenic"	""
"0000833572"	"2"	"90"	"15"	"89754981"	"89754981"	"subst"	"4.06141E-5"	"00000"	"RLBP1_000039"	"g.89754981A>T"	"1/233"	"{PMID:Kohn 2008:18344446}"	""	"c.[677T A]+[700C T]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89211750A>T"	""	"pathogenic"	""
"0000833573"	"2"	"90"	"15"	"89754981"	"89754981"	"subst"	"4.06141E-5"	"00000"	"RLBP1_000039"	"g.89754981A>T"	"1/233"	"{PMID:Kohn 2008:18344446}"	""	"c.[677T A]+[700C T]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89211750A>T"	""	"pathogenic"	""
"0000833574"	"2"	"90"	"15"	"89754981"	"89754981"	"subst"	"4.06141E-5"	"00000"	"RLBP1_000039"	"g.89754981A>T"	"1/233"	"{PMID:Kohn 2008:18344446}"	""	"c.[677T A]+[700C T]"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89211750A>T"	""	"pathogenic"	""
"0000833585"	"21"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	""	"{PMID:Nojima 2012:22171637}"	""	"c.700C>T, p.R234W"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833597"	"3"	"70"	"15"	"0"	"0"	""	"0"	"00000"	"IGF1R_000000"	"g.?"	""	"{PMID:Dessalces 2013:23929416}"	""	"Exons7_9del/Exons7_9del"	"deletion of exons 7 through 9; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000833598"	"11"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	""	"{PMID:Dessalces 2013:23929416}"	""	"p.R234W/p.Y111stop"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833599"	"11"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	""	"{PMID:Dessalces 2013:23929416}"	""	"p.R234W/p.Y111stop"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89210794G>A"	""	"pathogenic"	""
"0000833600"	"10"	"70"	"15"	"89761912"	"89761912"	"subst"	"3.6566E-5"	"00000"	"RLBP1_000044"	"g.89761912G>A"	"0/112 alleles"	"{PMID:Dessalces 2013:23929416}"	""	"p.R9C/p.Y111stop"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89218681G>A"	""	"likely pathogenic"	""
"0000833601"	"3"	"70"	"15"	"0"	"0"	""	"0"	"00000"	"IGF1R_000000"	"g.?"	""	"{PMID:Dessalces 2013:23929416}"	""	"Exons7_9del/Exons7_9del"	"deletion of exons 7 through 9; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000833602"	"3"	"70"	"15"	"0"	"0"	""	"0"	"00000"	"IGF1R_000000"	"g.?"	""	"{PMID:Dessalces 2013:23929416}"	""	"Exons7_9del/Exons7_9del"	"deletion of exons 7 through 9; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000833603"	"3"	"70"	"15"	"0"	"0"	""	"0"	"00000"	"IGF1R_000000"	"g.?"	""	"{PMID:Dessalces 2013:23929416}"	""	"Exons7_9del/Exons7_9del"	"deletion of exons 7 through 9; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000833604"	"3"	"70"	"15"	"0"	"0"	""	"0"	"00000"	"IGF1R_000000"	"g.?"	""	"{PMID:Dessalces 2013:23929416}"	""	"Exons7_9del/Exons7_9del"	"deletion of exons 7 through 9; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000833605"	"3"	"70"	"15"	"0"	"0"	""	"0"	"00000"	"IGF1R_000000"	"g.?"	""	"{PMID:Dessalces 2013:23929416}"	""	"Exons7_9del/Exons7_9del"	"deletion of exons 7 through 9; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000833606"	"3"	"70"	"15"	"0"	"0"	""	"0"	"00000"	"IGF1R_000000"	"g.?"	""	"{PMID:Dessalces 2013:23929416}"	""	"Exons7_9del/Exons7_9del"	"deletion of exons 7 through 9; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000833607"	"3"	"70"	"15"	"0"	"0"	""	"0"	"00000"	"IGF1R_000000"	"g.?"	""	"{PMID:Dessalces 2013:23929416}"	""	"Exons7_9del/Exons7_9del"	"deletion of exons 7 through 9; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000833608"	"21"	"70"	"15"	"89760364"	"89760364"	"subst"	"8.1672E-6"	"00000"	"RLBP1_000072"	"g.89760364A>C"	""	"{PMID:Dessalces 2013:23929416}"	""	"p.R234W/p.Y111stop"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89217133A>C"	""	"likely pathogenic"	""
"0000833609"	"21"	"70"	"15"	"89760364"	"89760364"	"subst"	"8.1672E-6"	"00000"	"RLBP1_000072"	"g.89760364A>C"	""	"{PMID:Dessalces 2013:23929416}"	""	"p.R234W/p.Y111stop"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89217133A>C"	""	"likely pathogenic"	""
"0000833610"	"21"	"70"	"15"	"89760364"	"89760364"	"subst"	"8.1672E-6"	"00000"	"RLBP1_000072"	"g.89760364A>C"	""	"{PMID:Dessalces 2013:23929416}"	""	"p.R9C/p.Y111stop"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89217133A>C"	""	"likely pathogenic"	""
"0000833731"	"3"	"70"	"15"	"89754974"	"89754974"	"del"	"0"	"00000"	"RLBP1_000062"	"g.89754974del"	""	"{PMID:Hipp 2015:25429852}"	""	"RLBP1 c.684+1del, p.(?)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89211743del"	""	"likely pathogenic"	""
"0000833732"	"3"	"70"	"15"	"89754974"	"89754974"	"del"	"0"	"00000"	"RLBP1_000062"	"g.89754974del"	""	"{PMID:Hipp 2015:25429852}"	""	"RLBP1 c.684+1del, p.(?)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89211743del"	""	"likely pathogenic"	""
"0000833733"	"0"	"70"	"15"	"89758308"	"89758308"	"subst"	"0"	"00000"	"RLBP1_000063"	"g.89758308C>A"	""	"{PMID:Hipp 2015:25429852}"	""	"RLBP1 c.508G>T, p.(Glu170*)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89215077C>A"	""	"likely pathogenic"	""
"0000833734"	"3"	"70"	"15"	"89758421"	"89758421"	"del"	"0"	"00000"	"RLBP1_000037"	"g.89758421del"	""	"{PMID:Hipp 2015:25429852}"	""	"RLBP1 c.398del, p.(Pro133Glnfs*126)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89215190del"	""	"likely pathogenic"	""
"0000833735"	"3"	"70"	"15"	"89758421"	"89758421"	"del"	"0"	"00000"	"RLBP1_000037"	"g.89758421del"	""	"{PMID:Hipp 2015:25429852}"	""	"RLBP1 c.398del, p.(Pro133Glnfs*126)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89215190del"	""	"likely pathogenic"	""
"0000833736"	"3"	"70"	"15"	"89760494"	"89760494"	"del"	"0"	"00000"	"RLBP1_000065"	"g.89760494del"	""	"{PMID:Hipp 2015:25429852}"	""	"RLBP1 c.203del, p.(Glu68Glyfs*51)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89217263del"	""	"likely pathogenic"	""
"0000833737"	"3"	"70"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"00000"	"RLBP1_000038"	"g.89754025G>A"	""	"{PMID:Hipp 2015:25429852}"	""	"RLBP1 c.700C>T, p.(Arg234Trp)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89210794G>A"	""	"likely pathogenic"	""
"0000833738"	"0"	"70"	"15"	"89753577"	"89753577"	"subst"	"2.03204E-5"	"00000"	"RLBP1_000023"	"g.89753577C>T"	""	"{PMID:Hipp 2015:25429852}"	""	"RLBP1 c.893G>A, p.(Gly298Asp)"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89210346C>T"	""	"likely pathogenic"	""
"0000833742"	"3"	"70"	"15"	"89758421"	"89758421"	"del"	"0"	"00000"	"RLBP1_000037"	"g.89758421del"	""	"{PMID:Scimone 2017:28764803}"	""	"RLBP1 c.398delC (p.P133Qfs*258)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89215190del"	""	"likely pathogenic"	""
"0000833744"	"3"	"70"	"15"	"89756051"	"89759644"	"del"	"0"	"00000"	"RLBP1_000071"	"g.89756051_89759644del"	""	"{PMID:Bagheri 2020:28827498}"	""	"RLBP1 c.346+721_526-905del, g.89756037_89759630del"	"error in annotation: genomic ends of the deletion in paper do not correspond to actual coding DNA; homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89212820_89216413del"	""	"likely pathogenic"	""
"0000833746"	"11"	"90"	"15"	"89761912"	"89761912"	"subst"	"3.6566E-5"	"00000"	"RLBP1_000044"	"g.89761912G>A"	""	"{PMID:Lima-de-Carvalho 2020:32188692}"	""	"RLBP1 c.25C T:pArg9Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89218681G>A"	""	"pathogenic"	""
"0000833747"	"11"	"90"	"15"	"89761912"	"89761912"	"subst"	"3.6566E-5"	"00000"	"RLBP1_000044"	"g.89761912G>A"	""	"{PMID:Lima-de-Carvalho 2020:32188692}"	""	"RLBP1 c.25C T:pArg9Cys"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89218681G>A"	""	"pathogenic"	""
"0000833748"	"21"	"90"	"15"	"89760405"	"89760416"	"del"	"0"	"00000"	"RLBP1_000009"	"g.89760405_89760416del"	""	"{PMID:Lima-de-Carvalho 2020:32188692}"	""	"RLBP1 c.286_297:p.Phe96_99 deletion"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89217174_89217185del"	""	"pathogenic"	""
"0000833749"	"21"	"90"	"15"	"89760405"	"89760416"	"del"	"0"	"00000"	"RLBP1_000009"	"g.89760405_89760416del"	""	"{PMID:Lima-de-Carvalho 2020:32188692}"	""	"RLBP1 c.286_297:p.Phe96_99 deletion"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89217174_89217185del"	""	"pathogenic"	""
"0000833750"	"11"	"70"	"15"	"89758311"	"89758315"	"del"	"0"	"00000"	"RLBP1_000058"	"g.89758311_89758315del"	""	"{PMID:Torres-Costa 2020:32345050}"	""	"RLBP1 c.504_508del, p.(Ser168Argfs*5)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89215080_89215084del"	""	"likely pathogenic"	""
"0000854230"	"0"	"50"	"15"	"89758455"	"89758455"	"subst"	"4.47176E-5"	"01943"	"RLBP1_000075"	"g.89758455G>A"	""	""	""	"RLBP1(NM_000326.4):c.361C>T (p.R121W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000881442"	"3"	"70"	"15"	"89755133"	"89758290"	"del"	"0"	"04405"	"RLBP1_000076"	"g.(89755133_89758290)_(89753098_?)del"	""	"{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}"	""	"del ex7-9, (?_526)_(954_?)del"	""	"Germline"	""	""	"0"	""	""	"g.(89211902_89215059)_(89209867_?)del"	""	"likely pathogenic"	"ACMG"
"0000892400"	"0"	"10"	"15"	"89753681"	"89753681"	"subst"	"0.00100614"	"02330"	"RLBP1_000077"	"g.89753681G>C"	""	""	""	"RLBP1(NM_000326.5):c.796-7C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000892401"	"0"	"50"	"15"	"89753969"	"89753969"	"subst"	"8.75887E-6"	"02330"	"RLBP1_000078"	"g.89753969A>C"	""	""	""	"RLBP1(NM_000326.5):c.756T>G (p.N252K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000896551"	"0"	"50"	"15"	"89761882"	"89761882"	"subst"	"0"	"00000"	"RLBP1_000020"	"g.89761882G>A"	"Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0.00000796"	"{PMID:Chen 2021:33608557}"	""	"RLBP1 c.55C>T(;)282del; p.(Arg19Cys)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.89218651G>A"	""	"VUS"	""
"0000896552"	"0"	"90"	"15"	"89760415"	"89760415"	"del"	"8.94774E-5"	"00000"	"RLBP1_000012"	"g.89760415del"	"Taiwan Biobank: 0.000989; GnomAD_exome_East: 0.00125; GnomAD_All: 0.0000916"	"{PMID:Chen 2021:33608557}"	""	"RLBP1 c.55C>T(;)282del; p.(Phe95SerfsTer24)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.89217184del"	""	"pathogenic"	""
"0000896629"	"3"	"90"	"15"	"89760415"	"89760415"	"del"	"8.94774E-5"	"00000"	"RLBP1_000012"	"g.89760415del"	"Taiwan Biobank: 0..000989; GnomAD_exome_East: 0.00125; GnomAD_All: 0.0000916"	"{PMID:Chen 2021:33608557}"	""	"RLBP1 c.[282del];[282del]; p.(Phe95SerfsTer24)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89217184del"	""	"pathogenic"	""
"0000896704"	"3"	"90"	"15"	"89760415"	"89760415"	"del"	"8.94774E-5"	"00000"	"RLBP1_000012"	"g.89760415del"	"Taiwan Biobank: 0..000989; GnomAD_exome_East: 0.00125; GnomAD_All: 0.0000916"	"{PMID:Chen 2021:33608557}"	""	"RLBP1 c.[282del];[282del]; p.(Phe95SerfsTer24)"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.89217184del"	""	"pathogenic"	""
"0000905929"	"0"	"50"	"15"	"89755011"	"89755011"	"subst"	"7.30964E-5"	"00000"	"RLBP1_000026"	"g.89755011C>T"	""	"{PMID:Zhu 2022:35456422}"	""	"RLBP1 c.647G>A, p.(Arg216Gln)"	"heterozygous, probably non-causal incidental finding"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.89211780C>T"	""	"VUS"	"ACMG"
"0000905966"	"0"	"90"	"15"	"89758350"	"89758350"	"subst"	"2.03031E-5"	"00000"	"RLBP1_000002"	"g.89758350G>A"	""	"{PMID:Zhu 2022:35456422}"	""	"RLBP1 c.466C>T, p.(Arg156*)"	"compound heterozygous, probably causal"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.89215119G>A"	""	"pathogenic"	"ACMG"
"0000905967"	"0"	"70"	"15"	"89761925"	"89761925"	"subst"	"4.06468E-6"	"00000"	"RLBP1_000079"	"g.89761925C>G"	""	"{PMID:Zhu 2022:35456422}"	""	"RLBP1 c.13-1G>C, p.?"	"compound heterozygous, probably causal"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.89218694C>G"	""	"likely pathogenic"	"ACMG"
"0000914410"	"0"	"90"	"15"	"89754025"	"89754025"	"subst"	"8.33145E-5"	"02330"	"RLBP1_000038"	"g.89754025G>A"	""	""	""	"RLBP1(NM_000326.5):c.700C>T (p.R234W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000914411"	"0"	"30"	"15"	"89758360"	"89758360"	"subst"	"0"	"02330"	"RLBP1_000081"	"g.89758360G>A"	""	""	""	"RLBP1(NM_000326.5):c.456C>T (p.D152=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000916444"	"1"	"70"	"15"	"89758364"	"89758364"	"subst"	"8.12117E-6"	"04436"	"RLBP1_000022"	"g.89758364C>T"	""	"{PMID:Panneman 2023:36819107}"	""	"c.452G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916445"	"2"	"70"	"15"	"0"	"0"	""	"0"	"04436"	"IGF1R_000000"	"g.?"	""	"{PMID:Panneman 2023:36819107}"	""	"c.(526+1_527-1)_(954+?)del"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000916635"	"3"	"70"	"15"	"89753638"	"89753638"	"del"	"0"	"04436"	"RLBP1_000080"	"g.89753638del"	""	"{PMID:Panneman 2023:36819107}"	""	"c.832del"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000958052"	"3"	"90"	"15"	"89760439"	"89760442"	"dup"	"0"	"00006"	"RLBP1_000064"	"g.89760439_89760442dup"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.89217208_89217211dup"	""	"pathogenic (recessive)"	"ACMG"
"0000959028"	"0"	"50"	"15"	"89761897"	"89761897"	"subst"	"0"	"00006"	"RLBP1_000083"	"g.89761897C>G"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2; no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.89218666C>G"	""	"VUS"	"ACMG"
"0000959369"	"0"	"50"	"15"	"89760456"	"89760456"	"subst"	"0"	"00006"	"RLBP1_000082"	"g.89760456C>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2"	"Germline"	""	""	"0"	""	""	"g.89217225C>T"	""	"VUS"	"ACMG"
"0001026534"	"0"	"50"	"15"	"89755113"	"89755113"	"subst"	"0.000719103"	"02325"	"RLBP1_000028"	"g.89755113A>C"	""	""	""	"RLBP1(NM_000326.4):c.545T>G (p.F182C), RLBP1(NM_000326.5):c.545T>G (p.F182C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001040652"	"0"	"50"	"15"	"89758338"	"89758338"	"subst"	"3.65453E-5"	"01804"	"RLBP1_000084"	"g.89758338G>T"	""	""	""	"RLBP1(NM_000326.5):c.478C>A (p.(Leu160Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes RLBP1
## Count = 277
"{{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}}"
"0000060190"	"00017799"	"90"	"525"	"1"	"946"	"0"	"c.525+1_946del"	"r.(?)"	"p.(Ile176ProfsTer13)"	"5i_9i"
"0000060191"	"00017799"	"90"	"525"	"1"	"946"	"0"	"c.525+1_946del"	"r.(?)"	"p.(Ile176ProfsTer13)"	"5i_9i"
"0000140768"	"00017799"	"95"	"525"	"1"	"946"	"0"	"c.525+1_946del"	"r.spl?"	"p.(Ile176ProfsTer13)"	"6_9"
"0000158350"	"00017799"	"90"	"466"	"0"	"466"	"0"	"c.466C>T"	"r.(?)"	"p.(Arg156*)"	"6"
"0000162776"	"00017799"	"90"	"346"	"0"	"346"	"0"	"c.346G>C"	"r.spl?"	"p.(Gly116Arg)"	"5"
"0000254284"	"00017799"	"30"	"639"	"0"	"639"	"0"	"c.639T>C"	"r.(?)"	"p.(Ala213=)"	""
"0000254944"	"00017799"	"30"	"57"	"0"	"57"	"0"	"c.57T>C"	"r.(?)"	"p.(Arg19=)"	""
"0000255944"	"00017799"	"50"	"545"	"0"	"545"	"0"	"c.545T>G"	"r.(?)"	"p.(Phe182Cys)"	""
"0000294874"	"00017799"	"70"	"286"	"0"	"297"	"0"	"c.286_297del"	"r.(?)"	"p.(Phe96_Phe99del)"	""
"0000294875"	"00017799"	"10"	"346"	"3"	"346"	"8"	"c.346+3_346+8del"	"r.spl?"	"p.?"	""
"0000294876"	"00017799"	"50"	"710"	"0"	"710"	"0"	"c.710C>T"	"r.(?)"	"p.(Ala237Val)"	""
"0000294877"	"00017799"	"10"	"795"	"15"	"795"	"15"	"c.795+15C>T"	"r.(=)"	"p.(=)"	""
"0000294878"	"00017799"	"10"	"795"	"17"	"795"	"17"	"c.795+17C>T"	"r.(=)"	"p.(=)"	""
"0000307115"	"00017799"	"30"	"126"	"0"	"126"	"0"	"c.126C>T"	"r.(?)"	"p.(Arg42=)"	""
"0000341292"	"00017799"	"50"	"710"	"0"	"710"	"0"	"c.710C>T"	"r.(?)"	"p.(Ala237Val)"	""
"0000358329"	"00017799"	"90"	"286"	"0"	"297"	"0"	"c.286_297del"	"r.(?)"	"p.(Phe96_Phe99del)"	"5"
"0000477099"	"00017799"	"90"	"875"	"0"	"875"	"0"	"c.875C>T"	"r.(?)"	"p.(Thr292Met)"	""
"0000477100"	"00017799"	"50"	"841"	"0"	"841"	"0"	"c.841G>A"	"r.(?)"	"p.(Asp281Asn)"	""
"0000477101"	"00017799"	"50"	"626"	"0"	"626"	"0"	"c.626T>C"	"r.(?)"	"p.(Met209Thr)"	""
"0000477102"	"00017799"	"50"	"410"	"0"	"410"	"0"	"c.410G>A"	"r.(?)"	"p.(Arg137His)"	""
"0000477103"	"00017799"	"50"	"229"	"0"	"229"	"0"	"c.229G>C"	"r.(?)"	"p.(Gly77Arg)"	""
"0000477104"	"00017799"	"50"	"221"	"0"	"221"	"0"	"c.221C>T"	"r.(?)"	"p.(Ala74Val)"	""
"0000477105"	"00017799"	"10"	"191"	"0"	"191"	"0"	"c.191G>A"	"r.(?)"	"p.(Arg64Gln)"	""
"0000477106"	"00017799"	"50"	"55"	"0"	"55"	"0"	"c.55C>T"	"r.(?)"	"p.(Arg19Cys)"	""
"0000477107"	"00017799"	"50"	"42"	"0"	"42"	"0"	"c.42G>T"	"r.(?)"	"p.(Glu14Asp)"	""
"0000500577"	"00017799"	"90"	"452"	"0"	"452"	"0"	"c.452G>A"	"r.(?)"	"p.(Arg151Gln)"	"6"
"0000500578"	"00017799"	"90"	"466"	"0"	"466"	"0"	"c.466C>T"	"r.(?)"	"p.(Arg156*)"	"6"
"0000500579"	"00017799"	"90"	"346"	"0"	"346"	"0"	"c.346G>C"	"r.(?)"	"p.(Gly116Arg)"	"5"
"0000555967"	"00017799"	"70"	"893"	"0"	"893"	"0"	"c.893G>A"	"r.(?)"	"p.(Gly298Asp)"	""
"0000555968"	"00017799"	"10"	"807"	"0"	"807"	"0"	"c.807C>T"	"r.(?)"	"p.(His269=)"	""
"0000555969"	"00017799"	"30"	"685"	"-4"	"685"	"-4"	"c.685-4G>A"	"r.spl?"	"p.?"	""
"0000555970"	"00017799"	"30"	"647"	"0"	"647"	"0"	"c.647G>A"	"r.(?)"	"p.(Arg216Gln)"	""
"0000555971"	"00017799"	"50"	"638"	"0"	"638"	"0"	"c.638C>G"	"r.(?)"	"p.(Ala213Gly)"	""
"0000555972"	"00017799"	"70"	"496"	"0"	"496"	"0"	"c.496T>G"	"r.(?)"	"p.(Trp166Gly)"	""
"0000555973"	"00017799"	"50"	"487"	"0"	"487"	"0"	"c.487A>G"	"r.(?)"	"p.(Ile163Val)"	""
"0000555974"	"00017799"	"30"	"306"	"0"	"306"	"0"	"c.306A>C"	"r.(?)"	"p.(Ala102=)"	""
"0000555975"	"00017799"	"10"	"306"	"0"	"306"	"0"	"c.306A>C"	"r.(?)"	"p.(Ala102=)"	""
"0000555976"	"00017799"	"10"	"191"	"0"	"191"	"0"	"c.191G>A"	"r.(?)"	"p.(Arg64Gln)"	""
"0000555977"	"00017799"	"10"	"141"	"6"	"141"	"6"	"c.141+6G>A"	"r.(=)"	"p.(=)"	""
"0000555978"	"00017799"	"30"	"141"	"6"	"141"	"6"	"c.141+6G>A"	"r.(=)"	"p.(=)"	""
"0000555979"	"00017799"	"10"	"126"	"0"	"126"	"0"	"c.126C>T"	"r.(?)"	"p.(Arg42=)"	""
"0000555980"	"00017799"	"50"	"124"	"0"	"124"	"0"	"c.124C>T"	"r.(?)"	"p.(Arg42Cys)"	""
"0000657688"	"00017799"	"70"	"602"	"0"	"602"	"0"	"c.602T>C"	"r.(?)"	"p.(Ile201Thr)"	""
"0000657689"	"00017799"	"30"	"231"	"0"	"231"	"0"	"c.231G>A"	"r.(?)"	"p.(Gly77=)"	""
"0000683403"	"00017799"	"90"	"79"	"0"	"79"	"0"	"c.79del"	"r.(?)"	"p.(Thr27Profs*26)"	""
"0000683404"	"00017799"	"90"	"398"	"0"	"398"	"0"	"c.398del"	"r.(?)"	"p.(Pro133Glnfs*126)"	""
"0000684414"	"00017799"	"70"	"526"	"-1"	"954"	"1"	"c.(525+1_526-1)_(954+1_955-1)del"	"r.?"	"p.?"	"6i_9i"
"0000684568"	"00017799"	"70"	"677"	"0"	"677"	"0"	"c.677T>A"	"r.(?)"	"p.(Met226Lys)"	""
"0000684641"	"00017799"	"70"	"677"	"0"	"677"	"0"	"c.677T>A"	"r.(?)"	"p.(Met226Lys)"	""
"0000685425"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	""
"0000685426"	"00017799"	"70"	"602"	"0"	"602"	"0"	"c.602T>C"	"r.(?)"	"p.(Ile201Thr)"	""
"0000685427"	"00017799"	"90"	"286"	"0"	"297"	"0"	"c.286_297del"	"r.(?)"	"p.(Phe96_Phe99del)"	""
"0000686107"	"00017799"	"90"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	"6i_9i"
"0000686112"	"00017799"	"90"	"487"	"0"	"487"	"0"	"c.487dup"	"r.(?)"	"p.(Ile163Asnfs*2)"	""
"0000691896"	"00017799"	"30"	"347"	"-10"	"347"	"-10"	"c.347-10C>T"	"r.(=)"	"p.(=)"	""
"0000691897"	"00017799"	"30"	"303"	"0"	"303"	"0"	"c.303C>T"	"r.(?)"	"p.(Arg101=)"	""
"0000713363"	"00017799"	"90"	"677"	"0"	"677"	"0"	"c.677T>A"	"r.(?)"	"p.(Met226Lys)"	""
"0000725355"	"00017799"	"50"	"525"	"0"	"525"	"0"	"c.525G>C"	"r.(?)"	"p.(Glu175Asp)"	""
"0000733226"	"00017799"	"70"	"25"	"0"	"25"	"0"	"c.25C>T"	"r.(?)"	"p.(Arg9Cys)"	""
"0000736064"	"00017799"	"90"	"466"	"0"	"466"	"0"	"c.466C>T"	"r.(?)"	"p.(Arg156*)"	""
"0000764125"	"00017799"	"90"	"545"	"0"	"545"	"0"	"c.545T>G"	"r.545u>g"	"p.(Phe182Cys)"	"7"
"0000764154"	"00017799"	"70"	"525"	"425"	"525"	"433"	"c.525+425_525+433delinsATA"	"r.?"	"p.?"	"6i"
"0000764902"	"00017799"	"70"	"398"	"0"	"398"	"0"	"c.398del"	"r.(?)"	"p.(Pro133GlnfsTer126)"	""
"0000765748"	"00017799"	"70"	"452"	"0"	"452"	"0"	"c.452G>A"	"r.(?)"	"p.(Arg151Gln)"	""
"0000765784"	"00017799"	"70"	"286"	"0"	"297"	"0"	"c.286_297del"	"r.(?)"	"p.(Phe96_Phe99del)"	""
"0000765894"	"00017799"	"70"	"773"	"0"	"773"	"0"	"c.773T>G"	"r.(?)"	"p.(Leu258Trp)"	""
"0000784350"	"00017799"	"70"	"488"	"0"	"488"	"0"	"c.488T>C"	"r.(?)"	"p.(Ile163Thr)"	""
"0000784463"	"00017799"	"50"	"191"	"0"	"191"	"0"	"c.191G>A"	"r.(?)"	"p.(Arg64Gln)"	""
"0000784507"	"00017799"	"50"	"191"	"0"	"191"	"0"	"c.191G>A"	"r.(?)"	"p.(Arg64Gln)"	""
"0000784568"	"00017799"	"50"	"191"	"0"	"191"	"0"	"c.191G>A"	"r.(?)"	"p.(Arg64Gln)"	""
"0000787640"	"00017799"	"70"	"282"	"0"	"282"	"0"	"c.282del"	"r.(?)"	"p.(Phe95SerfsTer24)"	""
"0000787644"	"00017799"	"70"	"282"	"0"	"282"	"0"	"c.282del"	"r.(?)"	"p.(Phe95SerfsTer24)"	""
"0000788488"	"00017799"	"50"	"647"	"0"	"647"	"0"	"c.647G>A"	"r.(?)"	"p.(Arg216Gln)"	"7"
"0000790139"	"00017799"	"90"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Arg151Trp)"	"6"
"0000790140"	"00017799"	"90"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Arg151Trp)"	"6"
"0000790545"	"00017799"	"50"	"346"	"3"	"346"	"8"	"c.346+3_346+8del"	"r.spl?"	"p.?"	""
"0000790938"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	"8"
"0000790939"	"00017799"	"90"	"677"	"0"	"677"	"0"	"c.677T>A"	"r.(?)"	"p.(Met226Lys)"	"7"
"0000790940"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	"8"
"0000790941"	"00017799"	"90"	"677"	"0"	"677"	"0"	"c.677T>A"	"r.(?)"	"p.(Met226Lys)"	"7"
"0000790942"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	"8"
"0000790943"	"00017799"	"90"	"677"	"0"	"677"	"0"	"c.677T>A"	"r.(?)"	"p.(Met226Lys)"	"7"
"0000790944"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	"8"
"0000790945"	"00017799"	"90"	"677"	"0"	"677"	"0"	"c.677T>A"	"r.(?)"	"p.(Met226Lys)"	"7"
"0000790946"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	"8"
"0000790947"	"00017799"	"90"	"677"	"0"	"677"	"0"	"c.677T>A"	"r.(?)"	"p.(Met226Lys)"	"7"
"0000790948"	"00017799"	"30"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	"4"
"0000790949"	"00017799"	"30"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	"4"
"0000792060"	"00017799"	"90"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Arg151Trp)"	"6"
"0000792061"	"00017799"	"90"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Arg151Trp)"	"6"
"0000793739"	"00017799"	"70"	"214"	"0"	"214"	"0"	"c.214G>C"	"r.(?)"	"p.(Ala72Pro)"	"5"
"0000793740"	"00017799"	"50"	"525"	"0"	"954"	"0"	"c.525_954del"	"r.(?)"	"p.(Ile176Asnfs*10)"	"6_9"
"0000793879"	"00017799"	"70"	"526"	"-1"	"1372"	"1"	"c.(?_526-1)_(*418+1_?)del"	"r.spl?"	"p.?"	"6i_9"
"0000793880"	"00017799"	"70"	"526"	"-1"	"1372"	"1"	"c.(?_526-1)_(*418+1_?)del"	"r.spl?"	"p.?"	"6i_9"
"0000793881"	"00017799"	"70"	"526"	"-1"	"1372"	"1"	"c.(?_526-1)_(*418+1_?)del"	"r.spl?"	"p.?"	"6i_9"
"0000793882"	"00017799"	"70"	"526"	"-1"	"1372"	"1"	"c.(?_526-1)_(*418+1_?)del"	"r.spl?"	"p.?"	"6i_9"
"0000793883"	"00017799"	"70"	"526"	"-1"	"1372"	"1"	"c.(?_526-1)_(*418+1_?)del"	"r.spl?"	"p.?"	"6i_9"
"0000793884"	"00017799"	"70"	"142"	"-1"	"142"	"-1"	"c.142-1G>A"	"r.spl?"	"p.?"	"4i"
"0000793885"	"00017799"	"70"	"142"	"-1"	"142"	"-1"	"c.142-1G>A"	"r.spl?"	"p.?"	"4i"
"0000793886"	"00017799"	"70"	"893"	"0"	"893"	"0"	"c.893G>A"	"r.(?)"	"p.(Gly298Asp)"	"9"
"0000794373"	"00017799"	"90"	"811"	"0"	"811"	"0"	"c.811del"	"r.(?)"	"p.(Asp271Metfs*58)"	"9"
"0000794374"	"00017799"	"90"	"34"	"0"	"44"	"0"	"c.34_44del"	"r.(?)"	"p.(Pro12Thrfs*36)"	"4"
"0000794990"	"00017799"	"50"	"446"	"0"	"446"	"0"	"c.446C>T"	"r.(?)"	"p.(Ser149Phe)"	"6"
"0000794994"	"00017799"	"50"	"452"	"0"	"452"	"0"	"c.452G>A"	"r.(?)"	"p.(Arg151Gln)"	"6"
"0000795068"	"00017799"	"90"	"488"	"0"	"489"	"0"	"c.488_489insA"	"r.(?)"	"p.(Glu164*)"	"6"
"0000795069"	"00017799"	"90"	"526"	"-1"	"1372"	"1"	"c.(?_526-1)_(*418+1_?)del"	"r.spl?"	"p.?"	"6i_9"
"0000796706"	"00017799"	"70"	"545"	"0"	"545"	"0"	"c.545T>G"	"r.(?)"	"p.(Phe182Cys)"	"7"
"0000796851"	"00017799"	"70"	"254"	"0"	"254"	"0"	"c.254C>T"	"r.(?)"	"p.(Ala85Val)"	"5"
"0000797098"	"00017799"	"90"	"451"	"0"	"451"	"0"	"c.451C>T"	"r.(?)"	"p.(Arg151Trp)"	"6"
"0000797701"	"00017799"	"90"	"526"	"-1"	"955"	"0"	"c.(525+1_526-1)_(*1_?)del"	"r.(?)"	"p.(?)"	""
"0000798065"	"00017799"	"70"	"346"	"0"	"346"	"0"	"c.346G>C"	"r.(?)"	"p.(Gly116Arg)"	""
"0000806992"	"00017799"	"30"	"545"	"0"	"545"	"0"	"c.545T>G"	"r.(?)"	"p.(Phe182Cys)"	""
"0000812041"	"00017799"	"70"	"504"	"0"	"508"	"0"	"c.504_508del"	"r.(?)"	"p.(Ser168Argfs*5)"	"6"
"0000812226"	"00017799"	"70"	"332"	"0"	"332"	"0"	"c.332dup"	"r.(?)"	"p.(Tyr111*)"	"5"
"0000812227"	"00017799"	"70"	"504"	"0"	"508"	"0"	"c.504_508del"	"r.(?)"	"p.(Ser168Argfs*5)"	"6"
"0000813191"	"00017799"	"70"	"875"	"0"	"875"	"0"	"c.875A>T"	"r.?"	"p.T292M"	"9"
"0000814271"	"00017799"	"70"	"282"	"0"	"282"	"0"	"c.282del"	"r.(?)"	"p.(Phe95Serfs*24)"	"5"
"0000814298"	"00017799"	"70"	"346"	"2"	"346"	"2"	"c.346+2T>G"	"r.(?)"	"p.(?)"	""
"0000819599"	"00017799"	"70"	"255"	"0"	"258"	"0"	"c.255_258dup"	"r.(?)"	"p.(Arg87Glyfs*27)"	""
"0000819848"	"00017799"	"70"	"684"	"1"	"684"	"1"	"c.684+1del"	"r.spl"	"p.(?)"	""
"0000819849"	"00017799"	"70"	"684"	"1"	"684"	"1"	"c.684+1del"	"r.spl"	"p.(?)"	""
"0000820405"	"00017799"	"70"	"203"	"0"	"203"	"0"	"c.203del"	"r.(?)"	"p.(Glu68Glyfs*51)"	""
"0000820445"	"00017799"	"70"	"508"	"0"	"508"	"0"	"c.508G>T"	"r.(?)"	"p.(Glu170*)"	""
"0000820917"	"00017799"	"70"	"893"	"0"	"893"	"0"	"c.893G>A"	"r.(?)"	"p.(Gly298Asp)"	""
"0000821360"	"00017799"	"90"	"677"	"0"	"677"	"0"	"c.677T>A"	"r.(?)"	"p.(Met226Lys)"	""
"0000821361"	"00017799"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.0?"	"p.0?"	""
"0000821470"	"00017799"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.0?"	"p.0?"	""
"0000824933"	"00017799"	"50"	"-70"	"0"	"-70"	"0"	"c.-70G>A"	"r.(?)"	"p.(?)"	""
"0000824937"	"00017799"	"50"	"-70"	"0"	"-70"	"0"	"c.-70G>A"	"r.(?)"	"p.(?)"	""
"0000825892"	"00017799"	"70"	"811"	"0"	"811"	"0"	"c.811del"	"r.(?)"	"p.(Asp271Metfs*58)"	"9"
"0000825893"	"00017799"	"70"	"34"	"0"	"44"	"0"	"c.34_44del"	"r.(?)"	"p.(Pro12Thrfs*36)"	"4"
"0000826948"	"00017799"	"90"	"677"	"0"	"677"	"0"	"c.677T>A"	"r.(?)"	"p.(Met226Lys)"	""
"0000826949"	"00017799"	"90"	"832"	"0"	"832"	"0"	"c.832C>T"	"r.(?)"	"p.(Gln278*)"	""
"0000826950"	"00017799"	"90"	"677"	"0"	"677"	"0"	"c.677T>A"	"r.(?)"	"p.(Met226Lys)"	""
"0000826951"	"00017799"	"90"	"832"	"0"	"832"	"0"	"c.832C>T"	"r.(?)"	"p.(Gln278*)"	""
"0000826952"	"00017799"	"90"	"677"	"0"	"677"	"0"	"c.677T>A"	"r.(?)"	"p.(Met226Lys)"	""
"0000826953"	"00017799"	"90"	"832"	"0"	"832"	"0"	"c.832C>T"	"r.(?)"	"p.(Gln278*)"	""
"0000826954"	"00017799"	"90"	"832"	"0"	"832"	"0"	"c.832C>T"	"r.(?)"	"p.(Gln278*)"	""
"0000827319"	"00017799"	"70"	"437"	"0"	"437"	"0"	"c.437G>A"	"r.(?)"	"p.(Gly146Asp)"	"6"
"0000827320"	"00017799"	"90"	"13"	"-2"	"13"	"-1"	"c.13-2_13-1delinsCC"	"r.spl?"	"p.?"	"3i"
"0000827321"	"00017799"	"90"	"398"	"0"	"398"	"0"	"c.398del"	"r.(?)"	"p.(Pro133Glnfs*126)"	"6"
"0000828764"	"00017799"	"50"	"55"	"0"	"55"	"0"	"c.55C>T"	"r.(?)"	"p.(Arg19Cys)"	""
"0000828849"	"00017799"	"90"	"282"	"0"	"282"	"0"	"c.282del"	"r.(?)"	"p.(Phe95Serfs*24)"	""
"0000828879"	"00017799"	"90"	"282"	"0"	"282"	"0"	"c.282del"	"r.(?)"	"p.(Phe95Serfs*24)"	""
"0000828969"	"00017799"	"90"	"282"	"0"	"282"	"0"	"c.282del"	"r.(?)"	"p.(Phe95Serfs*24)"	""
"0000833354"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	"8"
"0000833355"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	"8"
"0000833356"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	"8"
"0000833357"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	"8"
"0000833358"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	"8"
"0000833359"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	"8"
"0000833360"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	"8"
"0000833361"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	"8"
"0000833362"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	"8"
"0000833363"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	"8"
"0000833364"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	"8"
"0000833365"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	"8"
"0000833366"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	"8"
"0000833367"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	"8"
"0000833368"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	"8"
"0000833369"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	"8"
"0000833370"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	"8"
"0000833371"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	"8"
"0000833372"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	"8"
"0000833373"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	"8"
"0000833432"	"00017799"	"70"	"832"	"0"	"832"	"0"	"c.832delC"	"r.(?)"	"p.(Gln278Argfs*51)"	"9"
"0000833433"	"00017799"	"70"	"141"	"2"	"141"	"2"	"c.141+2T>C"	"r.spl"	"p.(?)"	"4i"
"0000833434"	"00017799"	"70"	"677"	"0"	"677"	"0"	"c.677T>A"	"r.(?)"	"p.(Met226Lys)"	"7"
"0000833435"	"00017799"	"90"	"452"	"0"	"452"	"0"	"c.452G>A"	"r.(?)"	"p.(Arg151Gln)"	"8"
"0000833436"	"00017799"	"90"	"452"	"0"	"452"	"0"	"c.452G>A"	"r.(?)"	"p.(Arg151Gln)"	"8"
"0000833437"	"00017799"	"90"	"452"	"0"	"452"	"0"	"c.452G>A"	"r.(?)"	"p.(Arg151Gln)"	"8"
"0000833438"	"00017799"	"90"	"452"	"0"	"452"	"0"	"c.452G>A"	"r.(?)"	"p.(Arg151Gln)"	"8"
"0000833441"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	"8"
"0000833442"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	"8"
"0000833458"	"00017799"	"70"	"141"	"0"	"141"	"0"	"c.141G>A"	"r.(?)"	"p.[Lys47=;?]"	"4"
"0000833459"	"00017799"	"70"	"141"	"0"	"141"	"0"	"c.141G>A"	"r.(?)"	"p.[Lys47=;?]"	"4"
"0000833460"	"00017799"	"70"	"141"	"0"	"141"	"0"	"c.141G>A"	"r.(?)"	"p.[Lys47=;?]"	"4"
"0000833461"	"00017799"	"70"	"141"	"0"	"141"	"0"	"c.141G>A"	"r.(?)"	"p.[Lys47=;?]"	"4"
"0000833462"	"00017799"	"70"	"141"	"0"	"141"	"0"	"c.141G>A"	"r.(?)"	"p.[Lys47=;?]"	"4"
"0000833463"	"00017799"	"70"	"141"	"2"	"141"	"2"	"c.141+2T>C"	"r.spl"	"p.(?)"	"4i"
"0000833464"	"00017799"	"70"	"141"	"2"	"141"	"2"	"c.141+2T>C"	"r.spl"	"p.(?)"	"4i"
"0000833465"	"00017799"	"70"	"141"	"2"	"141"	"2"	"c.141+2T>C"	"r.spl"	"p.(?)"	"4i"
"0000833466"	"00017799"	"70"	"141"	"2"	"141"	"2"	"c.141+2T>C"	"r.spl"	"p.(?)"	"4i"
"0000833467"	"00017799"	"70"	"141"	"0"	"141"	"0"	"c.141G>A"	"r.(?)"	"p.[Lys47=;?]"	"4"
"0000833468"	"00017799"	"70"	"141"	"0"	"141"	"0"	"c.141G>A"	"r.(?)"	"p.[Lys47=;?]"	"4"
"0000833469"	"00017799"	"70"	"141"	"0"	"141"	"0"	"c.141G>A"	"r.(?)"	"p.[Lys47=;?]"	"4"
"0000833470"	"00017799"	"70"	"141"	"2"	"141"	"2"	"c.141+2T>C"	"r.spl"	"p.(?)"	"4i"
"0000833471"	"00017799"	"70"	"141"	"2"	"141"	"2"	"c.141+2T>C"	"r.spl"	"p.(?)"	"4i"
"0000833472"	"00017799"	"70"	"141"	"0"	"141"	"0"	"c.141G>A"	"r.(?)"	"p.[Lys47=;?]"	"4"
"0000833473"	"00017799"	"70"	"141"	"0"	"141"	"0"	"c.141G>A"	"r.(?)"	"p.[Lys47=;?]"	"4"
"0000833474"	"00017799"	"70"	"141"	"0"	"141"	"0"	"c.141G>A"	"r.(?)"	"p.[Lys47=;?]"	"4"
"0000833475"	"00017799"	"70"	"141"	"0"	"141"	"0"	"c.141G>A"	"r.(?)"	"p.[Lys47=;?]"	"4"
"0000833476"	"00017799"	"70"	"141"	"2"	"141"	"2"	"c.141+2T>C"	"r.spl"	"p.(?)"	"4i"
"0000833477"	"00017799"	"70"	"141"	"2"	"141"	"2"	"c.141+2T>C"	"r.spl"	"p.(?)"	"4i"
"0000833478"	"00017799"	"70"	"141"	"0"	"141"	"0"	"c.141G>A"	"r.(?)"	"p.[Lys47=;?]"	"4"
"0000833479"	"00017799"	"70"	"141"	"0"	"141"	"0"	"c.141G>A"	"r.(?)"	"p.[Lys47=;?]"	"4"
"0000833480"	"00017799"	"70"	"141"	"0"	"141"	"0"	"c.141G>A"	"r.(?)"	"p.[Lys47=;?]"	"4"
"0000833481"	"00017799"	"70"	"141"	"0"	"141"	"0"	"c.141G>A"	"r.(?)"	"p.[Lys47=;?]"	"4"
"0000833482"	"00017799"	"70"	"141"	"0"	"141"	"0"	"c.141G>A"	"r.(?)"	"p.[Lys47=;?]"	"4"
"0000833483"	"00017799"	"70"	"141"	"0"	"141"	"0"	"c.141G>A"	"r.(?)"	"p.[Lys47=;?]"	"4"
"0000833484"	"00017799"	"70"	"141"	"0"	"141"	"0"	"c.141G>A"	"r.(?)"	"p.[Lys47=;?]"	"4"
"0000833485"	"00017799"	"70"	"437"	"0"	"437"	"0"	"c.437G>A"	"r.(?)"	"p.(Gly146Asp)"	"6"
"0000833486"	"00017799"	"70"	"602"	"0"	"602"	"0"	"c.602T>C"	"r.(?)"	"p.(Ile201Thr)"	"7"
"0000833490"	"00017799"	"70"	"307"	"0"	"307"	"0"	"c.307C>T"	"r.(?)"	"p.(Arg103Trp)"	"6"
"0000833491"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	"8"
"0000833495"	"00017799"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.(?)"	""
"0000833555"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	""
"0000833556"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	""
"0000833557"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	""
"0000833558"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	""
"0000833559"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	""
"0000833560"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	""
"0000833561"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	""
"0000833562"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	""
"0000833563"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	""
"0000833564"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	""
"0000833565"	"00017799"	"90"	"677"	"0"	"677"	"0"	"c.677T>A"	"r.(?)"	"p.(Met226Lys)"	""
"0000833566"	"00017799"	"90"	"677"	"0"	"677"	"0"	"c.677T>A"	"r.(?)"	"p.(Met226Lys)"	""
"0000833567"	"00017799"	"90"	"677"	"0"	"677"	"0"	"c.677T>A"	"r.(?)"	"p.(Met226Lys)"	""
"0000833568"	"00017799"	"90"	"677"	"0"	"677"	"0"	"c.677T>A"	"r.(?)"	"p.(Met226Lys)"	""
"0000833569"	"00017799"	"90"	"677"	"0"	"677"	"0"	"c.677T>A"	"r.(?)"	"p.(Met226Lys)"	""
"0000833570"	"00017799"	"90"	"677"	"0"	"677"	"0"	"c.677T>A"	"r.(?)"	"p.(Met226Lys)"	""
"0000833571"	"00017799"	"90"	"677"	"0"	"677"	"0"	"c.677T>A"	"r.(?)"	"p.(Met226Lys)"	""
"0000833572"	"00017799"	"90"	"677"	"0"	"677"	"0"	"c.677T>A"	"r.(?)"	"p.(Met226Lys)"	""
"0000833573"	"00017799"	"90"	"677"	"0"	"677"	"0"	"c.677T>A"	"r.(?)"	"p.(Met226Lys)"	""
"0000833574"	"00017799"	"90"	"677"	"0"	"677"	"0"	"c.677T>A"	"r.(?)"	"p.(Met226Lys)"	""
"0000833585"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	""
"0000833597"	"00017799"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.(?)"	""
"0000833598"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	""
"0000833599"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	""
"0000833600"	"00017799"	"70"	"25"	"0"	"25"	"0"	"c.25C>T"	"r.(?)"	"p.(Arg9Cys)"	""
"0000833601"	"00017799"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.(?)"	""
"0000833602"	"00017799"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.(?)"	""
"0000833603"	"00017799"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.(?)"	""
"0000833604"	"00017799"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.(?)"	""
"0000833605"	"00017799"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.(?)"	""
"0000833606"	"00017799"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.(?)"	""
"0000833607"	"00017799"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.(?)"	"p.(?)"	""
"0000833608"	"00017799"	"70"	"333"	"0"	"333"	"0"	"c.333T>G"	"r.(?)"	"p.(Tyr111*)"	""
"0000833609"	"00017799"	"70"	"333"	"0"	"333"	"0"	"c.333T>G"	"r.(?)"	"p.(Tyr111*)"	""
"0000833610"	"00017799"	"70"	"333"	"0"	"333"	"0"	"c.333T>G"	"r.(?)"	"p.(Tyr111*)"	""
"0000833731"	"00017799"	"70"	"684"	"1"	"684"	"1"	"c.684+1del"	"r.spl"	"p.(?)"	""
"0000833732"	"00017799"	"70"	"684"	"1"	"684"	"1"	"c.684+1del"	"r.spl"	"p.(?)"	""
"0000833733"	"00017799"	"70"	"508"	"0"	"508"	"0"	"c.508G>T"	"r.(?)"	"p.(Glu170*)"	""
"0000833734"	"00017799"	"70"	"398"	"0"	"398"	"0"	"c.398del"	"r.(?)"	"p.(Pro133Glnfs*126)"	""
"0000833735"	"00017799"	"70"	"398"	"0"	"398"	"0"	"c.398del"	"r.(?)"	"p.(Pro133Glnfs*126)"	""
"0000833736"	"00017799"	"70"	"203"	"0"	"203"	"0"	"c.203del"	"r.(?)"	"p.(Glu68Glyfs*51)"	""
"0000833737"	"00017799"	"70"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	""
"0000833738"	"00017799"	"70"	"893"	"0"	"893"	"0"	"c.893G>A"	"r.(?)"	"p.(Gly298Asp)"	""
"0000833742"	"00017799"	"70"	"398"	"0"	"398"	"0"	"c.398delC"	"r.(?)"	"p.(Pro133Glnfs*126)"	"6"
"0000833744"	"00017799"	"70"	"346"	"721"	"526"	"-905"	"c.346+721_526-905del"	"r.(?)"	"p.(?)"	"5i_6i"
"0000833746"	"00017799"	"90"	"25"	"0"	"25"	"0"	"c.25C>T"	"r.(?)"	"p.(Arg9Cys)"	""
"0000833747"	"00017799"	"90"	"25"	"0"	"25"	"0"	"c.25C>T"	"r.(?)"	"p.(Arg9Cys)"	""
"0000833748"	"00017799"	"90"	"286"	"0"	"297"	"0"	"c.286_297del"	"r.(?)"	"p.(Phe96_Phe99del)"	""
"0000833749"	"00017799"	"90"	"286"	"0"	"297"	"0"	"c.286_297del"	"r.(?)"	"p.(Phe96_Phe99del)"	""
"0000833750"	"00017799"	"70"	"504"	"0"	"508"	"0"	"c.504_508del"	"r.(?)"	"p.(Ser168Argfs*5)"	"6"
"0000854230"	"00017799"	"50"	"361"	"0"	"361"	"0"	"c.361C>T"	"r.(?)"	"p.(Arg121Trp)"	""
"0000881442"	"00017799"	"70"	""	"0"	""	"0"	"c.(525+1_526-1)_*418{0}5"	"r.?"	"p.?"	"6i_9_"
"0000892400"	"00017799"	"10"	"796"	"-7"	"796"	"-7"	"c.796-7C>G"	"r.(=)"	"p.(=)"	""
"0000892401"	"00017799"	"50"	"756"	"0"	"756"	"0"	"c.756T>G"	"r.(?)"	"p.(Asn252Lys)"	""
"0000896551"	"00017799"	"50"	"55"	"0"	"55"	"0"	"c.55C>T"	"r.(?)"	"p.(Arg19Cys)"	""
"0000896552"	"00017799"	"90"	"282"	"0"	"282"	"0"	"c.282delC"	"r.(?)"	"p.(Phe95SerfsTer24)"	""
"0000896629"	"00017799"	"90"	"282"	"0"	"282"	"0"	"c.282delC"	"r.(?)"	"p.(Phe95SerfsTer24)"	""
"0000896704"	"00017799"	"90"	"282"	"0"	"282"	"0"	"c.282delC"	"r.(?)"	"p.(Phe95SerfsTer24)"	""
"0000905929"	"00017799"	"50"	"647"	"0"	"647"	"0"	"c.647G>A"	"r.(?)"	"p.(Arg216Gln)"	""
"0000905966"	"00017799"	"90"	"466"	"0"	"466"	"0"	"c.466C>T"	"r.(?)"	"p.(Arg156*)"	""
"0000905967"	"00017799"	"70"	"13"	"-1"	"13"	"-1"	"c.13-1G>C"	"r.spl"	"p.?"	""
"0000914410"	"00017799"	"90"	"700"	"0"	"700"	"0"	"c.700C>T"	"r.(?)"	"p.(Arg234Trp)"	""
"0000914411"	"00017799"	"30"	"456"	"0"	"456"	"0"	"c.456C>T"	"r.(?)"	"p.(Asp152=)"	""
"0000916444"	"00017799"	"70"	"452"	"0"	"452"	"0"	"c.452G>A"	"r.(?)"	"p.(Arg151Gln)"	"6"
"0000916445"	"00017799"	"70"	""	"0"	""	"0"	"c.(526+1_527-1)_(954+?)del"	"r.?"	"p.(Ile176Argfs*36)"	""
"0000916635"	"00017799"	"70"	"832"	"0"	"832"	"0"	"c.832del"	"r.(?)"	"p.(Gln278Argfs*51)"	"9"
"0000958052"	"00017799"	"90"	"255"	"0"	"258"	"0"	"c.255_258dup"	"r.(?)"	"p.(Arg87GlyfsTer27)"	""
"0000959028"	"00017799"	"50"	"40"	"0"	"40"	"0"	"c.40G>C"	"r.(?)"	"p.(Glu14Gln)"	""
"0000959369"	"00017799"	"50"	"241"	"0"	"241"	"0"	"c.241G>A"	"r.(?)"	"p.(Ala81Thr)"	""
"0001026534"	"00017799"	"50"	"545"	"0"	"545"	"0"	"c.545T>G"	"r.(?)"	"p.(Phe182Cys)"	""
"0001040652"	"00017799"	"50"	"478"	"0"	"478"	"0"	"c.478C>A"	"r.(?)"	"p.(Leu160Ile)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 240
"{{screeningid}}"	"{{variantid}}"
"0000033238"	"0000060190"
"0000033238"	"0000060191"
"0000087959"	"0000140768"
"0000096357"	"0000158350"
"0000100477"	"0000162776"
"0000156407"	"0000358329"
"0000234391"	"0000477099"
"0000234392"	"0000477100"
"0000234393"	"0000477101"
"0000234394"	"0000477102"
"0000234395"	"0000477103"
"0000234396"	"0000477104"
"0000234397"	"0000477105"
"0000234398"	"0000477106"
"0000234399"	"0000477107"
"0000247708"	"0000500577"
"0000247709"	"0000500578"
"0000247710"	"0000500579"
"0000308964"	"0000683403"
"0000308965"	"0000683404"
"0000309549"	"0000684414"
"0000309695"	"0000684568"
"0000309768"	"0000684641"
"0000310514"	"0000685425"
"0000310515"	"0000685426"
"0000310516"	"0000685427"
"0000310963"	"0000686107"
"0000310968"	"0000686112"
"0000329240"	"0000713363"
"0000335217"	"0000733226"
"0000336619"	"0000736064"
"0000363470"	"0000764125"
"0000363470"	"0000764154"
"0000364140"	"0000764902"
"0000364806"	"0000765748"
"0000364842"	"0000765784"
"0000364952"	"0000765894"
"0000373912"	"0000784350"
"0000373956"	"0000784507"
"0000373970"	"0000784463"
"0000373984"	"0000784568"
"0000376107"	"0000787640"
"0000376111"	"0000787644"
"0000376627"	"0000788488"
"0000377716"	"0000790139"
"0000377716"	"0000790140"
"0000377974"	"0000790545"
"0000378243"	"0000790938"
"0000378243"	"0000790939"
"0000378244"	"0000790940"
"0000378244"	"0000790941"
"0000378245"	"0000790942"
"0000378245"	"0000790943"
"0000378246"	"0000790944"
"0000378246"	"0000790945"
"0000378247"	"0000790946"
"0000378247"	"0000790947"
"0000378248"	"0000790948"
"0000378249"	"0000790949"
"0000379028"	"0000792060"
"0000379028"	"0000792061"
"0000380594"	"0000793739"
"0000380595"	"0000793740"
"0000380710"	"0000793879"
"0000380711"	"0000793880"
"0000380712"	"0000793881"
"0000380713"	"0000793882"
"0000380714"	"0000793883"
"0000380715"	"0000793884"
"0000380716"	"0000793885"
"0000380717"	"0000793886"
"0000381077"	"0000794373"
"0000381077"	"0000794374"
"0000381529"	"0000794990"
"0000381533"	"0000794994"
"0000381590"	"0000795068"
"0000381591"	"0000795069"
"0000382829"	"0000796706"
"0000382897"	"0000796851"
"0000383106"	"0000797098"
"0000383542"	"0000797701"
"0000383807"	"0000798065"
"0000385153"	"0000812041"
"0000385266"	"0000812226"
"0000385266"	"0000812227"
"0000385974"	"0000813191"
"0000386633"	"0000814271"
"0000386633"	"0000814298"
"0000390254"	"0000819599"
"0000390503"	"0000819848"
"0000390504"	"0000819849"
"0000391060"	"0000820405"
"0000391100"	"0000820445"
"0000391100"	"0000820917"
"0000391611"	"0000821360"
"0000391611"	"0000821361"
"0000391720"	"0000821470"
"0000394025"	"0000824933"
"0000394026"	"0000824937"
"0000394840"	"0000825892"
"0000394840"	"0000825893"
"0000395577"	"0000826948"
"0000395577"	"0000826949"
"0000395578"	"0000826950"
"0000395578"	"0000826951"
"0000395579"	"0000826952"
"0000395579"	"0000826953"
"0000395580"	"0000826954"
"0000395872"	"0000827319"
"0000395872"	"0000827320"
"0000395873"	"0000827321"
"0000397018"	"0000828764"
"0000397018"	"0000828969"
"0000397103"	"0000828849"
"0000397133"	"0000828879"
"0000400463"	"0000833354"
"0000400464"	"0000833355"
"0000400465"	"0000833356"
"0000400466"	"0000833357"
"0000400467"	"0000833358"
"0000400468"	"0000833359"
"0000400469"	"0000833360"
"0000400470"	"0000833361"
"0000400471"	"0000833362"
"0000400472"	"0000833363"
"0000400473"	"0000833364"
"0000400474"	"0000833365"
"0000400475"	"0000833366"
"0000400476"	"0000833367"
"0000400477"	"0000833368"
"0000400478"	"0000833369"
"0000400479"	"0000833370"
"0000400480"	"0000833371"
"0000400481"	"0000833372"
"0000400482"	"0000833373"
"0000400520"	"0000833432"
"0000400521"	"0000833433"
"0000400521"	"0000833434"
"0000400522"	"0000833435"
"0000400523"	"0000833436"
"0000400524"	"0000833437"
"0000400525"	"0000833438"
"0000400528"	"0000833441"
"0000400529"	"0000833442"
"0000400542"	"0000833458"
"0000400543"	"0000833459"
"0000400544"	"0000833460"
"0000400545"	"0000833461"
"0000400546"	"0000833462"
"0000400547"	"0000833463"
"0000400547"	"0000833478"
"0000400548"	"0000833464"
"0000400548"	"0000833479"
"0000400549"	"0000833465"
"0000400550"	"0000833466"
"0000400550"	"0000833480"
"0000400551"	"0000833467"
"0000400552"	"0000833468"
"0000400553"	"0000833469"
"0000400554"	"0000833470"
"0000400554"	"0000833481"
"0000400555"	"0000833471"
"0000400555"	"0000833482"
"0000400556"	"0000833472"
"0000400557"	"0000833473"
"0000400558"	"0000833474"
"0000400559"	"0000833475"
"0000400560"	"0000833476"
"0000400560"	"0000833483"
"0000400561"	"0000833477"
"0000400561"	"0000833484"
"0000400563"	"0000833485"
"0000400563"	"0000833486"
"0000400566"	"0000833490"
"0000400566"	"0000833491"
"0000400570"	"0000833495"
"0000400610"	"0000833555"
"0000400610"	"0000833565"
"0000400611"	"0000833556"
"0000400611"	"0000833566"
"0000400612"	"0000833557"
"0000400612"	"0000833567"
"0000400613"	"0000833558"
"0000400613"	"0000833568"
"0000400614"	"0000833559"
"0000400614"	"0000833569"
"0000400615"	"0000833560"
"0000400615"	"0000833570"
"0000400616"	"0000833561"
"0000400616"	"0000833571"
"0000400617"	"0000833562"
"0000400617"	"0000833572"
"0000400618"	"0000833563"
"0000400618"	"0000833573"
"0000400619"	"0000833564"
"0000400619"	"0000833574"
"0000400629"	"0000833585"
"0000400638"	"0000833597"
"0000400639"	"0000833598"
"0000400639"	"0000833608"
"0000400640"	"0000833599"
"0000400640"	"0000833609"
"0000400641"	"0000833600"
"0000400641"	"0000833610"
"0000400642"	"0000833601"
"0000400643"	"0000833602"
"0000400644"	"0000833603"
"0000400645"	"0000833604"
"0000400646"	"0000833605"
"0000400647"	"0000833606"
"0000400648"	"0000833607"
"0000400750"	"0000833731"
"0000400751"	"0000833732"
"0000400752"	"0000833733"
"0000400752"	"0000833738"
"0000400753"	"0000833734"
"0000400754"	"0000833735"
"0000400755"	"0000833736"
"0000400756"	"0000833737"
"0000400760"	"0000833742"
"0000400762"	"0000833744"
"0000400764"	"0000833746"
"0000400764"	"0000833748"
"0000400765"	"0000833747"
"0000400765"	"0000833749"
"0000400766"	"0000833750"
"0000421024"	"0000881442"
"0000421766"	"0000896551"
"0000421766"	"0000896552"
"0000421821"	"0000896629"
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