### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RBP3) # 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}}" "RBP3" "retinol binding protein 3, interstitial" "10" "q11.2" "unknown" "NG_029718.1" "UD_132118753466" "" "https://www.LOVD.nl/RBP3" "" "1" "9921" "5949" "180290" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/RBP3_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-13 00:00:00" "00006" "2017-02-01 11:29:31" "00000" "2024-08-28 13:16:32" ## 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}}" "00017559" "RBP3" "retinol binding protein 3, interstitial" "001" "NM_002900.2" "" "NP_002891.1" "" "" "" "-114" "4162" "3744" "48390991" "48381487" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00058" "CORD" "dystrophy, cone-rod (CORD)" "" "" "" "" "" "00006" "2012-09-22 11:31:25" "00006" "2020-08-30 09:43:59" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03862" "RP66" "retinitis pigmentosa, type 66 (RP66)" "AR" "615233" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "RBP3" "03862" ## Individuals ## Do not remove or alter this header ## ## Count = 102 "{{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}}" "00000210" "" "" "" "1" "" "00039" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "(Saudi Arabia)" "" "" "" "" "" "" "00059788" "" "" "" "1" "" "00039" "{PMID:Abu-Safieh-2013:23105016}" "" "" "yes" "" "" "0" "" "" "" "" "00100106" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "61217" "00143966" "" "" "" "1" "" "01780" "{PMID:Xu 2014:24938718}" "" "M" "yes" "China" "" "0" "" "" "Chinese" "" "00144272" "" "" "" "1" "" "01780" "{PMID:Xu 2014:24938718}" "" "F" "no" "China" "" "0" "" "" "Chinese" "" "00155528" "" "" "" "2" "" "01243" "Sharon, submitted" "" "F" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "" "00233133" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233134" "" "" "" "58" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233135" "" "" "" "7" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233136" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233137" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233138" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233139" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233140" "" "" "" "50" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233141" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233142" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233143" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233144" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233145" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233146" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233147" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233148" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233149" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233150" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233151" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233152" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233153" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233154" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233155" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233156" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233157" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233158" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233159" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233160" "" "" "" "5" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233161" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233162" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233163" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233164" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233165" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233166" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233766" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233767" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00290045" "" "" "" "52" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00309331" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00328095" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G005186" "00333360" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat14" "00333365" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat7" "00334411" "" "" "" "1" "" "00000" "{PMID:Huang 2017:28512305}" "patient" "" "" "China" "" "0" "" "" "" "RP-042" "00334412" "" "" "" "1" "" "00000" "{PMID:Huang 2017:28512305}" "patient" "" "" "China" "" "0" "" "" "" "RP-156" "00361424" "" "" "" "2" "" "04036" "{PMID:Xu 2014:24938718}" "index case" "M" "no" "China" "" "0" "" "" "Asia" "RP387_II:1" "00368358" "" "" "" "1" "" "01695" "{PMID:Xu 2014:24938718}" "" "M" "no" "China" "" "0" "" "" "China" "RP365" "00372633" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP144" "00372639" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP325" "00372669" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "F" "" "China" "" "0" "" "" "" "RP281" "00372682" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP231" "00372695" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP319" "00372697" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP341" "00372735" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP196" "00372753" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP403" "00375420" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#012" "00376753" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "F" "" "United States" "" "0" "" "" "" "13" "00376775" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "39" "00376780" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "46" "00376787" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "54" "00376788" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "F" "" "United States" "" "0" "" "" "" "55" "00376793" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "F" "" "United States" "" "0" "" "" "" "60" "00377518" "" "" "" "1" "" "00000" "{PMID:Hosono 2018:29844330}" "proband, family EYE42" "M" "no" "Japan" "" "0" "" "" "Asian" "EYE42" "00381603" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "yes" "Iran" "" "0" "" "" "" "" "00381632" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "M" "yes" "Turkey" "" "0" "" "" "" "" "00381658" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "" "00382868" "" "" "" "1" "" "00000" "{PMID:Ksantini-2010:21067480}" "" "" "" "France" "" "0" "" "" "" "" "00382869" "" "" "" "1" "" "00000" "{PMID:Ksantini-2010:21067480}" "" "" "" "France" "" "0" "" "" "" "" "00382870" "" "" "" "1" "" "00000" "{PMID:Ksantini-2010:21067480}" "" "" "" "France" "" "0" "" "" "" "" "00382871" "" "" "" "1" "" "00000" "{PMID:Ksantini-2010:21067480}" "" "" "" "France" "" "0" "" "" "" "" "00382872" "" "" "" "1" "" "00000" "{PMID:Ksantini-2010:21067480}" "" "" "" "France" "" "0" "" "" "" "" "00382873" "" "" "" "1" "" "00000" "{PMID:Ksantini-2010:21067480}" "" "" "" "France" "" "0" "" "" "" "" "00382874" "" "" "" "1" "" "00000" "{PMID:Ksantini-2010:21067480}" "" "" "" "France" "" "0" "" "" "" "" "00382875" "" "" "" "1" "" "00000" "{PMID:Ksantini-2010:21067480}" "" "" "" "France" "" "0" "" "" "" "" "00382876" "" "" "" "1" "" "00000" "{PMID:Ksantini-2010:21067480}" "" "" "" "France" "" "0" "" "" "" "" "00382877" "" "" "" "1" "" "00000" "{PMID:Ksantini-2010:21067480}" "" "" "" "France" "" "0" "" "" "" "" "00382878" "" "" "" "1" "" "00000" "{PMID:Ksantini-2010:21067480}" "" "" "" "France" "" "0" "" "" "" "" "00382879" "" "" "" "1" "" "00000" "{PMID:Ksantini-2010:21067480}" "" "" "" "France" "" "0" "" "" "" "" "00382880" "" "" "" "1" "" "00000" "{PMID:Ksantini-2010:21067480}" "" "" "" "France" "" "0" "" "" "" "" "00386175" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-131, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-288" "00386189" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-303" "00386261" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-239, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-609" "00386297" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-GG, proband" "F" "" "Spain" "" "0" "" "" "" "RP-506" "00386894" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2878_004463" "00389843" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 771, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1127" "00390358" "" "" "" "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" "" "" "" "G005186" "00392265" "" "" "" "1" "" "00000" "{PMID:Bell 2021:33494148}" "" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "12" "00396420" "" "" "" "1" "" "00006" "{PMID:Ellingford 2016:26872967}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "084928" "00410299" "" "" "" "1" "" "00000" "{PMID:Arno 2015:25766589}" "family GC17452" "M" "yes" "" "" "0" "" "" "" "GC17452_II:1" "00410300" "" "" "" "1" "" "00000" "{PMID:Arno 2015:25766589}" "family GC17453" "F" "yes" "" "" "0" "" "" "" "GC17452_II:2" "00410301" "" "" "" "1" "" "00000" "{PMID:Arno 2015:25766589}" "family GC19774" "M" "yes" "" "" "0" "" "" "" "GC19774_II:1" "00410302" "" "" "" "1" "" "00000" "{PMID:Arno 2015:25766589}" "family GC19774" "M" "yes" "" "" "0" "" "" "" "GC19774_II:2" "00410304" "" "" "" "1" "" "00000" "{PMID:den Hollander 2009:19074801}" "" "M" "yes" "" "" "0" "" "" "" "II:1" "00410305" "" "" "" "1" "" "00000" "{PMID:den Hollander 2009:19074801}" "" "M" "yes" "" "" "0" "" "" "" "II:2" "00410306" "" "" "" "1" "" "00000" "{PMID:den Hollander 2009:19074801}" "" "M" "yes" "" "" "0" "" "" "" "II:3" "00410307" "" "" "" "1" "" "00000" "{PMID:den Hollander 2009:19074801}" "" "F" "yes" "" "" "0" "" "" "" "II:4" "00410308" "" "" "" "1" "" "00000" "{PMID:den Hollander 2009:19074801}" "" "M" "" "" "" "0" "" "" "" "II:3" "00426924" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 28, individual 33" "M" "" "" "" "0" "" "" "" "28_33" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 102 "{{individualid}}" "{{diseaseid}}" "00000210" "00058" "00059788" "00112" "00100106" "04214" "00143966" "04214" "00144272" "04214" "00155528" "04214" "00233133" "04214" "00233134" "04214" "00233135" "04214" "00233136" "04214" "00233137" "04214" "00233138" "04214" "00233139" "04214" "00233140" "04214" "00233141" "04214" "00233142" "04214" "00233143" "04214" "00233144" "04214" "00233145" "04214" "00233146" "04214" "00233147" "04214" "00233148" "04214" "00233149" "04214" "00233150" "04214" "00233151" "04214" "00233152" "04214" "00233153" "04214" "00233154" "04214" "00233155" "04214" "00233156" "04214" "00233157" "04214" "00233158" "04214" "00233159" "04214" "00233160" "04214" "00233161" "04214" "00233162" "04214" "00233163" "04214" "00233164" "04214" "00233165" "04214" "00233166" "04214" "00233766" "04214" "00233767" "04214" "00290045" "00198" "00309331" "04214" "00328095" "04214" "00333360" "04214" "00333365" "04214" "00334411" "04214" "00334412" "04214" "00361424" "04214" "00368358" "04214" "00372633" "04214" "00372639" "04214" "00372669" "04214" "00372682" "04214" "00372695" "04214" "00372697" "04214" "00372735" "04214" "00372753" "04214" "00375420" "04214" "00376753" "04214" "00376775" "04214" "00376780" "04214" "00376787" "04214" "00376788" "04214" "00376793" "04214" "00377518" "04214" "00381603" "04214" "00381632" "04214" "00381658" "04214" "00382868" "04214" "00382869" "04214" "00382870" "04214" "00382871" "04214" "00382872" "04214" "00382873" "04214" "00382874" "04214" "00382875" "04214" "00382876" "04214" "00382877" "04214" "00382878" "04214" "00382879" "04214" "00382880" "04214" "00386175" "04214" "00386189" "04214" "00386261" "04214" "00386297" "04214" "00386894" "04214" "00389843" "04214" "00390358" "04214" "00392265" "04214" "00396420" "04214" "00410299" "04214" "00410300" "04214" "00410301" "04214" "00410302" "04214" "00410304" "04214" "00410305" "04214" "00410306" "04214" "00410307" "04214" "00410308" "04214" "00426924" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00058, 00112, 00198, 03862, 04214 ## Count = 65 "{{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}}" "0000000026" "00058" "00000210" "00039" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000046280" "00112" "00059788" "00039" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078343" "04214" "00100106" "01769" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000116744" "04214" "00143966" "01780" "Familial, autosomal recessive" "" "Age examination 30: first symptom: poor vision, night blindness; visual acuity OD/OS: 0,3/0,4, fundus exam.: attenuated retinal arteries, pigment deposit, no foveal reflex" "13y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000117050" "04214" "00144272" "01780" "Isolated (sporadic)" "" "Age examination 43: first symptom: poor vision, visual acuity OD/OS: 0,8/0,7, fundus exam.: attenuated retinal arteries, pigment deposit" "43y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000128028" "04214" "00155528" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234651" "04214" "00309331" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" "" "0000246322" "04214" "00328095" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000251547" "04214" "00333360" "00000" "Familial, autosomal dominant" "54y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251552" "04214" "00333365" "00000" "Unknown" "59y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252500" "04214" "00334411" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252501" "04214" "00334412" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000256829" "04214" "00361424" "04036" "Familial, autosomal dominant" "" "visual acuity: OD = 0.7, OS = 0.8. ERG: Not performed." "" "" "Poor vision" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000263696" "04214" "00368358" "01695" "Unknown" "" "At the age of 7, the visual acuity was 0.07/0.05 (OD/OS). The fundus showed: attenuated retinal arteries;tapetal-like retinal degeneration. ERG response of the rods was: Extinguished and of the cones was Extinguished." "7y" "" "poor vision" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267912" "04214" "00372633" "00000" "Familial, autosomal dominant" "5y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267918" "04214" "00372639" "00000" "Familial, autosomal dominant" "22y" "see paper; ..." "15y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267948" "04214" "00372669" "00000" "Familial, autosomal recessive" "16y" "see paper; ..." "6y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267961" "04214" "00372682" "00000" "Familial, X-linked" "22y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267974" "04214" "00372695" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267976" "04214" "00372697" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268014" "04214" "00372735" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268032" "04214" "00372753" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270634" "04214" "00375420" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271964" "04214" "00376753" "00000" "Familial, autosomal recessive" "48y" "" "" "" "" "" "" "" "" "" "" "Decreased peripheral vision, photophobia, difficult light-to-dark adaptation, night blindness" "" "0000271986" "04214" "00376775" "00000" "Familial, autosomal dominant" "55y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271991" "04214" "00376780" "00000" "Familial, autosomal dominant" "45y" "" "" "" "" "" "" "" "" "" "" "Night blindness, visual field peripheral restriction, decreased vision, ERG consistent with retinitis pigmentosa" "" "0000271998" "04214" "00376787" "00000" "Unknown" "24y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271999" "04214" "00376788" "00000" "Unknown" "15y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272004" "04214" "00376793" "00000" "Unknown" "7y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272668" "04214" "00377518" "00000" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "retinal disease" "" "0000275445" "04214" "00381603" "00000" "Isolated (sporadic)" "" "" "30y" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" "" "0000275474" "04214" "00381632" "00000" "Familial, autosomal recessive" "" "" "16y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000275500" "04214" "00381658" "00000" "Familial, autosomal recessive" "" "" "6y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000276724" "04214" "00382868" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000276725" "04214" "00382869" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000276726" "04214" "00382870" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000276727" "04214" "00382871" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000276728" "04214" "00382872" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000276729" "04214" "00382873" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000276730" "04214" "00382874" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000276731" "04214" "00382875" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000276732" "04214" "00382876" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000276733" "04214" "00382877" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000276734" "04214" "00382878" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000276735" "04214" "00382879" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000276736" "04214" "00382880" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000279978" "04214" "00386175" "00000" "Familial, autosomal recessive" "44y" "" "" "38y" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000279992" "04214" "00386189" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000280064" "04214" "00386261" "00000" "Familial, autosomal recessive" "54y" "" "" "45y" "" "" "" "" "" "" "Stargardt Disease" "" "" "0000280100" "04214" "00386297" "00000" "Familial, autosomal recessive" "57y" "" "" "10y" "" "" "" "" "" "" "early onset retinitis pigmentosa" "" "" "0000280694" "04214" "00386894" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283384" "04214" "00389843" "00000" "Isolated (sporadic)" "67y" "age at genetic diagnosis mentioned" "" "60y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283896" "04214" "00390358" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000285543" "04214" "00392265" "00000" "Familial, autosomal recessive" "29y" "Pseudophakia, retinal dystrophy, myopia" "" "17y" "" "" "" "" "" "" "Retinitis pigmentosa 66" "" "" "0000289582" "04214" "00396420" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000302404" "04214" "00410299" "00000" "Familial, autosomal recessive" "13y" "fundus: myopic changes; electroretiography: 10 y; cone > rod dysfunction with marked macular involvement; latest visual acuity, logMAR(Snellen equivalent): 0.44 (20/50), 0.42 (20/50); latest refractive error: -23.00/2.50 x 100, -23.00/2.50 x 170; strabismus: slight exophoria" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000302405" "04214" "00410300" "00000" "Familial, autosomal recessive" "12y" "fundus: myopic changes; electroretiography: 9 y; as above but more marked rod system involvement ; latest visual acuity, logMAR(Snellen equivalent): 0.26 (20/40), 0.26 (20/40); latest refractive error: -12.50/2.00 x 20, -1.00/1.75 x 170; strabismus: small left convergent squint, left strabismic amblyopia treated with patching" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000302406" "04214" "00410301" "00000" "Familial, autosomal recessive" "14y" "fundus: myopic changes; electroretiography: 13 y; marked deterioration into cone > rod dysfunction with macular involvement; at age 5 y there was a rod > cone abnormality with macular sparing; latest visual acuity, logMAR(Snellen equivalent): 0.12 (20/25), 0.02 (20/20); latest refractive error: -12.25/1.00 x 50, -13.00/2.00 x 140; strabismus: small exophoria" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000302407" "04214" "00410302" "00000" "Familial, autosomal recessive" "8y" "fundus: myopic changes; electroretiography: 7 y; rod > cone abnormality with relative macular sparing; latest visual acuity, logMAR(Snellen equivalent): 0.42 (20/50), 0.44 (20/50); latest refractive error: -6.25/1.25 x 180, -6.75/1.00 x 5; strabismus: small left/alternating esotropia" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000302409" "04214" "00410304" "00000" "Familial, autosomal recessive" "67y" "67y: best corrected visual acuity right, left eye: 20/60, 20/80; normal color vision on the Farnsworth-D-15 panel; visual field: marked constriction with the I-4e and a midperipheral scotoma with the V-4e test light; fundus: clumped and bone spicule pigment around the periphery, normal color in each disc with a large area of atrophy just temporal to each disc and had attenuated retinal vessels; central macula normal or near-normal color; posterior subcapsular cataracts; electroretinogram: profound loss of rod and cone function, cone ERG amplitudes of both patients substantially smaller than normal and could be detected only by computer averaging and narrow band-pass filtering - delayed cone implicit times were compatible with progressive disease; optical coherence tomography: increased macular thickness due to cystoid macular edema" "60y" "" "loss of central vision" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000302410" "04214" "00410305" "00000" "Familial, autosomal recessive" "" "fundus findings: typical retinitis pigmentosa; electroretinogram: very reduced ERG responses that were virtually nondetectable without computer averaging" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000302411" "04214" "00410306" "00000" "Familial, autosomal recessive" "" "46y: best corrected visual acuity both eyes: 20/200; color vision on the Farnsworth-D-15 panel: tritan axis of confusion; visual field: marked constriction with the I-4e and a midperipheral scotoma with the V-4e test light; fundus: clumped and bone spicule pigment around the periphery, waxy pallor of the optic disc and attenuated retinal vessels; central macula normal or near-normal color; posterior subcapsular cataracts; cataract surgery with posterior chamber lens implants; electroretinogram: profound loss of rod and cone function, cone ERG amplitudes of both patients substantially smaller than normal and could be detected only by computer averaging and narrow band-pass filtering - delayed cone implicit times were compatible with progressive disease; optical coherence tomography: reduced central retinal thickness; evaluated at several time points which permitted an analysis of the progression of visual decline; treatment with vitamin A palmitate, 15,000 IU/d after his second examination; annual decline of his remaining visual field area contiguous to the center was 5.4%, and the annual decline in his remaining cone ERG amplitude was 4.4%, with both values being averages across both eyes. The rates of decline of the remaining field area and cone ERG amplitude were slower, respectively, than the average rates of 7.2% and 10% per year reported for patients with typical RP who were not receiving treatment" "32y" "" "loss of central vision and onset of night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000302412" "04214" "00410307" "00000" "Familial, autosomal recessive" "" "fundus findings: typical retinitis pigmentosa; electroretinogram: very reduced ERG responses that were virtually nondetectable without computer averaging" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000302413" "04214" "00410308" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000318062" "04214" "00426924" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 102 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000211" "00000210" "1" "00039" "00006" "2012-09-22 11:36:24" "" "" "SEQ" "DNA" "" "" "0000059775" "00059788" "1" "00039" "00039" "2012-09-18 13:23:39" "" "" "SEQ" "DNA" "" "" "0000100510" "00100106" "1" "01769" "01769" "2017-01-30 20:20:31" "" "" "SEQ" "DNA" "WBC" "" "0000144825" "00143966" "1" "01780" "00006" "2017-11-28 22:45:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000145131" "00144272" "1" "01780" "00006" "2017-11-28 22:45:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000156393" "00155528" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000234232" "00233133" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234233" "00233134" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234234" "00233135" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234235" "00233136" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234236" "00233137" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234237" "00233138" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234238" "00233139" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234239" "00233140" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234240" "00233141" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234241" "00233142" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234242" "00233143" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234243" "00233144" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234244" "00233145" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234245" "00233146" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234246" "00233147" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234247" "00233148" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234248" "00233149" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234249" "00233150" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234250" "00233151" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234251" "00233152" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234252" "00233153" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234253" "00233154" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234254" "00233155" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234255" "00233156" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234256" "00233157" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234257" "00233158" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234258" "00233159" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234259" "00233160" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234260" "00233161" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234261" "00233162" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234262" "00233163" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234263" "00233164" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234264" "00233165" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234265" "00233166" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234865" "00233766" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234866" "00233767" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000291213" "00290045" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000310476" "00309331" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000329310" "00328095" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000334585" "00333360" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000334590" "00333365" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000335640" "00334411" "1" "00000" "00006" "2021-02-28 16:11:14" "" "" "SEQ-NG" "DNA" "" "WES" "0000335641" "00334412" "1" "00000" "00006" "2021-02-28 16:11:14" "" "" "SEQ-NG" "DNA" "" "WES" "0000362652" "00361424" "1" "04036" "00006" "2021-04-06 16:50:09" "" "" "PCR;SEQ;SEQ-NG" "DNA" "blood" "WES" "0000369586" "00368358" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000373865" "00372633" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373871" "00372639" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373901" "00372669" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373914" "00372682" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373927" "00372695" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373929" "00372697" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373967" "00372735" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373985" "00372753" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000376617" "00375420" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000377959" "00376753" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000377981" "00376775" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000377986" "00376780" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000377993" "00376787" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000377994" "00376788" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000377999" "00376793" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000378721" "00377518" "1" "00000" "03840" "2021-07-22 15:35:32" "00006" "2021-08-06 16:49:30" "SEQ-NG;SEQ" "DNA" "blood" "Targeted next-generation sequencing" "0000382819" "00381603" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382848" "00381632" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382874" "00381658" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000384084" "00382868" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "SEQ;DHPLC" "DNA" "" "" "0000384085" "00382869" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "SEQ;DHPLC" "DNA" "" "" "0000384086" "00382870" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "SEQ;DHPLC" "DNA" "" "" "0000384087" "00382871" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "SEQ;DHPLC" "DNA" "" "" "0000384088" "00382872" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "SEQ;DHPLC" "DNA" "" "" "0000384089" "00382873" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "SEQ;DHPLC" "DNA" "" "" "0000384090" "00382874" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "SEQ;DHPLC" "DNA" "" "" "0000384091" "00382875" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "SEQ;DHPLC" "DNA" "" "" "0000384092" "00382876" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "SEQ;DHPLC" "DNA" "" "" "0000384093" "00382877" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "SEQ;DHPLC" "DNA" "" "" "0000384094" "00382878" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "SEQ;DHPLC" "DNA" "" "" "0000384095" "00382879" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "SEQ;DHPLC" "DNA" "" "" "0000384096" "00382880" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "SEQ;DHPLC" "DNA" "" "" "0000387404" "00386175" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387418" "00386189" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387490" "00386261" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387526" "00386297" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000388122" "00386894" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000391086" "00389843" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000391599" "00390358" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000393507" "00392265" "1" "00000" "03840" "2021-11-22 09:44:22" "" "" "SEQ-NG" "DNA" "blood" "targeted next-generation sequencing" "0000397661" "00396420" "1" "00006" "00006" "2021-12-15 14:29:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000411563" "00410299" "1" "00000" "03840" "2022-05-23 15:52:17" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000411564" "00410300" "1" "00000" "03840" "2022-05-23 15:52:17" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000411565" "00410301" "1" "00000" "03840" "2022-05-23 15:52:17" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000411566" "00410302" "1" "00000" "03840" "2022-05-23 15:52:17" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000411568" "00410304" "1" "00000" "03840" "2022-05-23 20:17:43" "" "" "arraySNP;SEQ" "DNA" "blood" "homozygosity mapping" "0000411569" "00410305" "1" "00000" "03840" "2022-05-23 20:17:43" "" "" "arraySNP;SEQ" "DNA" "blood" "homozygosity mapping" "0000411570" "00410306" "1" "00000" "03840" "2022-05-23 20:17:43" "" "" "arraySNP;SEQ" "DNA" "blood" "homozygosity mapping" "0000411571" "00410307" "1" "00000" "03840" "2022-05-23 20:17:43" "" "" "arraySNP;SEQ" "DNA" "blood" "homozygosity mapping" "0000411572" "00410308" "1" "00000" "03840" "2022-05-23 20:17:43" "" "" "arraySNP;SEQ" "DNA" "blood" "homozygosity mapping" "0000428244" "00426924" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 109 "{{screeningid}}" "{{geneid}}" "0000000211" "MKS1" "0000059775" "RBP3" "0000100510" "RBP3" "0000144825" "EYS" "0000145131" "EYS" "0000156393" "RBP3" "0000234232" "RBP3" "0000234233" "RBP3" "0000234234" "RBP3" "0000234235" "RBP3" "0000234236" "RBP3" "0000234237" "RBP3" "0000234238" "RBP3" "0000234239" "RBP3" "0000234240" "RBP3" "0000234241" "RBP3" "0000234242" "RBP3" "0000234243" "RBP3" "0000234244" "RBP3" "0000234245" "RBP3" "0000234246" "RBP3" "0000234247" "RBP3" "0000234248" "RBP3" "0000234249" "RBP3" "0000234250" "RBP3" "0000234251" "RBP3" "0000234252" "RBP3" "0000234253" "RBP3" "0000234254" "RBP3" "0000234255" "RBP3" "0000234256" "RBP3" "0000234257" "RBP3" "0000234258" "RBP3" "0000234259" "RBP3" "0000234260" "RBP3" "0000234261" "RBP3" "0000234262" "RBP3" "0000234263" "RBP3" "0000234264" "RBP3" "0000234265" "RBP3" "0000234865" "RBP3" "0000234866" "RBP3" "0000310476" "RBP3" "0000329310" "RBP3" "0000334585" "NR2E3" "0000335640" "RBP3" "0000335641" "RBP3" "0000362652" "PRPH2" "0000369586" "ABCA4" "0000382819" "PDE6B" "0000382848" "MERTK" "0000382874" "RPGRIP1" "0000384084" "RBP1" "0000384084" "RBP3" "0000384084" "RGR" "0000384085" "RBP1" "0000384085" "RBP3" "0000384085" "RGR" "0000384086" "RBP1" "0000384086" "RBP3" "0000384086" "RGR" "0000384087" "RBP1" "0000384087" "RBP3" "0000384087" "RGR" "0000384088" "RBP1" "0000384088" "RBP3" "0000384088" "RGR" "0000384089" "RBP1" "0000384089" "RBP3" "0000384089" "RGR" "0000384090" "RBP1" "0000384090" "RBP3" "0000384090" "RGR" "0000384091" "RBP1" "0000384091" "RBP3" "0000384091" "RGR" "0000384092" "RBP1" "0000384092" "RBP3" "0000384092" "RGR" "0000384093" "RBP1" "0000384093" "RBP3" "0000384093" "RGR" "0000384094" "RBP1" "0000384094" "RBP3" "0000384094" "RGR" "0000384095" "RBP1" "0000384095" "RBP3" "0000384095" "RGR" "0000384096" "RBP1" "0000384096" "RBP3" "0000384096" "RGR" "0000387404" "USH2A" "0000387418" "C2orf71" "0000387490" "ABCA4" "0000387526" "C8orf37" "0000388122" "RBP3" "0000391086" "RBP3" "0000391599" "RBP3" "0000393507" "RBP3" "0000411563" "RBP3" "0000411564" "RBP3" "0000411565" "RBP3" "0000411566" "RBP3" "0000411568" "RBP3" "0000411569" "RBP3" "0000411570" "RBP3" "0000411571" "RBP3" "0000411572" "RBP3" "0000428244" "RPE65" ## 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 = 178 "{{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}}" "0000090891" "3" "90" "10" "48389716" "48389716" "subst" "1.23236E-5" "00039" "RBP3_000001" "g.48389716G>A" "" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Germline" "" "" "0" "" "" "g.47349646C>T" "" "pathogenic" "" "0000162809" "3" "90" "10" "48383880" "48383881" "del" "4.06075E-6" "01769" "RBP3_000002" "g.48383880_48383881del" "" "{PMID:Li 2017:28418496}" "" "3353_3354delCT" "" "Germline" "yes" "" "0" "" "" "g.47355483_47355484del" "" "pathogenic" "" "0000246911" "0" "10" "10" "48388402" "48388402" "subst" "0" "02330" "RBP3_000013" "g.48388402A>G" "" "" "" "RBP3(NM_002900.3):c.2476T>C (p.L826=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47350960T>C" "" "benign" "" "0000254746" "0" "30" "10" "48388119" "48388119" "subst" "0" "01943" "RBP3_000009" "g.48388119A>G" "" "" "" "RBP3(NM_002900.2):c.2759T>C (p.M920T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47351243T>C" "" "likely benign" "" "0000294755" "0" "50" "10" "48389737" "48389737" "subst" "0.000332043" "02330" "RBP3_000022" "g.48389737C>G" "" "" "" "RBP3(NM_002900.3):c.1141G>C (p.E381Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47349625G>C" "" "VUS" "" "0000294756" "0" "50" "10" "48389442" "48389442" "subst" "0" "02330" "RBP3_000021" "g.48389442C>T" "" "" "" "RBP3(NM_002900.3):c.1436G>A (p.R479H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47349920G>A" "" "VUS" "" "0000294757" "0" "50" "10" "48389274" "48389274" "subst" "1.22546E-5" "02330" "RBP3_000020" "g.48389274C>T" "" "" "" "RBP3(NM_002900.3):c.1604G>A (p.R535H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47350088G>A" "" "VUS" "" "0000294758" "0" "10" "10" "48389072" "48389072" "subst" "7.07932E-5" "02330" "RBP3_000017" "g.48389072G>A" "" "" "" "RBP3(NM_002900.2):c.1806C>T (p.H602=), RBP3(NM_002900.3):c.1806C>T (p.H602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47350290C>T" "" "benign" "" "0000294759" "0" "10" "10" "48388801" "48388801" "subst" "0.00227291" "02330" "RBP3_000016" "g.48388801C>T" "" "" "" "RBP3(NM_002900.3):c.2077G>A (p.V693M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47350561G>A" "" "benign" "" "0000294760" "0" "10" "10" "48388462" "48388462" "subst" "0.00104079" "02330" "RBP3_000014" "g.48388462G>A" "" "" "" "RBP3(NM_002900.3):c.2416C>T (p.R806C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47350900C>T" "" "benign" "" "0000294761" "0" "10" "10" "48388259" "48388259" "subst" "0.00117572" "02330" "RBP3_000011" "g.48388259G>A" "" "" "" "RBP3(NM_002900.2):c.2619C>T (p.A873=), RBP3(NM_002900.3):c.2619C>T (p.A873=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47351103C>T" "" "benign" "" "0000294763" "0" "10" "10" "48385833" "48385833" "subst" "6.09697E-5" "02330" "RBP3_000007" "g.48385833C>A" "" "" "" "RBP3(NM_002900.3):c.3245+14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47353529G>T" "" "benign" "" "0000294764" "0" "50" "10" "48383844" "48383844" "subst" "0" "02330" "RBP3_000006" "g.48383844C>T" "" "" "" "RBP3(NM_002900.3):c.3388G>A (p.G1130S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47355518G>A" "" "VUS" "" "0000294765" "0" "30" "10" "48382215" "48382215" "subst" "0" "02330" "RBP3_000005" "g.48382215C>A" "" "" "" "RBP3(NM_002900.3):c.3434G>T (p.S1145I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47357147G>T" "" "likely benign" "" "0000294766" "0" "10" "10" "48382103" "48382103" "subst" "0.00186889" "02330" "RBP3_000004" "g.48382103G>A" "" "" "" "RBP3(NM_002900.3):c.3546C>T (p.H1182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47357259C>T" "" "benign" "" "0000294767" "0" "10" "10" "48390062" "48390062" "subst" "0.00115188" "02330" "RBP3_000025" "g.48390062G>T" "" "" "" "RBP3(NM_002900.2):c.816C>A (p.G272=), RBP3(NM_002900.3):c.816C>A (p.G272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47349300C>A" "" "benign" "" "0000294768" "0" "10" "10" "48389951" "48389951" "subst" "0.00138657" "02330" "RBP3_000024" "g.48389951G>A" "" "" "" "RBP3(NM_002900.3):c.927C>T (p.A309=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47349411C>T" "" "benign" "" "0000306882" "0" "30" "10" "48389841" "48389841" "subst" "0.00739397" "01943" "RBP3_000023" "g.48389841C>T" "" "" "" "RBP3(NM_002900.2):c.1037G>A (p.R346H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47349521G>A" "" "likely benign" "" "0000306883" "0" "30" "10" "48389247" "48389247" "subst" "0.00221539" "01943" "RBP3_000019" "g.48389247C>T" "" "" "" "RBP3(NM_002900.2):c.1631G>A (p.R544H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47350115G>A" "" "likely benign" "" "0000306884" "0" "50" "10" "48389083" "48389083" "subst" "0.00114986" "01943" "RBP3_000018" "g.48389083T>C" "" "" "" "RBP3(NM_002900.2):c.1795A>G (p.I599V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47350279A>G" "" "VUS" "" "0000306885" "0" "30" "10" "48388388" "48388388" "subst" "6.62367E-5" "01943" "RBP3_000012" "g.48388388G>A" "" "" "" "RBP3(NM_002900.2):c.2490C>T (p.A830=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47350974C>T" "" "likely benign" "" "0000306886" "0" "50" "10" "48388228" "48388228" "subst" "0.00662818" "01943" "RBP3_000010" "g.48388228C>T" "" "" "" "RBP3(NM_002900.2):c.2650G>A (p.V884M, p.(Val884Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47351134G>A" "" "VUS" "" "0000306887" "0" "50" "10" "48381934" "48381934" "subst" "2.45771E-5" "01943" "RBP3_000003" "g.48381934G>A" "" "" "" "RBP3(NM_002900.2):c.3715C>T (p.R1239W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47357428C>T" "" "VUS" "" "0000341007" "0" "10" "10" "48390041" "48390041" "subst" "0.105482" "02327" "RBP3_000028" "g.48390041C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47349321G>A" "" "benign" "" "0000342694" "0" "10" "10" "48389841" "48389841" "subst" "0.00739397" "02327" "RBP3_000023" "g.48389841C>T" "" "" "" "RBP3(NM_002900.2):c.1037G>A (p.R346H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47349521G>A" "" "benign" "" "0000344872" "0" "50" "10" "48389388" "48389388" "subst" "0.00019612" "02327" "RBP3_000027" "g.48389388T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47349974A>G" "" "VUS" "" "0000346776" "0" "50" "10" "48389083" "48389083" "subst" "0.00114986" "02327" "RBP3_000018" "g.48389083T>C" "" "" "" "RBP3(NM_002900.2):c.1795A>G (p.I599V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47350279A>G" "" "VUS" "" "0000346867" "0" "50" "10" "48381982" "48381982" "subst" "0.000317285" "02327" "RBP3_000026" "g.48381982G>A" "" "" "" "RBP3(NM_002900.2):c.3667C>T (p.L1223F), RBP3(NM_002900.3):c.3667C>T (p.L1223F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47357380C>T" "" "VUS" "" "0000358315" "3" "90" "10" "48383853" "48383853" "subst" "0" "01243" "RBP3_000029" "g.48383853G>A" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.47355509C>T" "" "pathogenic" "" "0000476940" "0" "50" "10" "48381940" "48381940" "subst" "0" "02591" "RBP3_000030" "g.48381940C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.47357422G>A" "" "VUS" "" "0000476941" "0" "50" "10" "48381942" "48381942" "subst" "0.000224437" "02591" "RBP3_000031" "g.48381942C>T" "58/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs3740296" "0" "" "" "g.47357420G>A" "" "VUS" "" "0000476942" "0" "50" "10" "48382014" "48382014" "subst" "0.000495766" "02591" "RBP3_000032" "g.48382014G>A" "7/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs147796755" "0" "" "" "g.47357348C>T" "" "VUS" "" "0000476943" "0" "50" "10" "48383925" "48383925" "subst" "0" "02591" "RBP3_000033" "g.48383925C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.47355437G>A" "" "VUS" "" "0000476944" "0" "50" "10" "48387898" "48387898" "subst" "0.000129961" "02591" "RBP3_000034" "g.48387898C>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs147772956" "0" "" "" "g.47351464G>A" "" "VUS" "" "0000476945" "0" "50" "10" "48387906" "48387908" "del" "0" "02591" "RBP3_000035" "g.48387906_48387908del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.47351454_47351456del" "" "VUS" "" "0000476946" "0" "50" "10" "48387994" "48387994" "subst" "0" "02591" "RBP3_000036" "g.48387994C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.47351368G>A" "" "VUS" "" "0000476947" "0" "10" "10" "48388228" "48388228" "subst" "0.00662818" "02591" "RBP3_000010" "g.48388228C>T" "50/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs11204213" "0" "" "" "g.47351134G>A" "" "benign" "" "0000476948" "0" "50" "10" "48388231" "48388231" "subst" "0" "02591" "RBP3_000037" "g.48388231G>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.47351131C>G" "" "VUS" "" "0000476949" "0" "50" "10" "48388432" "48388432" "subst" "0.000209747" "02591" "RBP3_000038" "g.48388432C>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs544729230" "0" "" "" "g.47350930G>T" "" "VUS" "" "0000476950" "0" "50" "10" "48388471" "48388471" "subst" "3.34955E-5" "02591" "RBP3_000039" "g.48388471C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs782632795" "0" "" "" "g.47350891G>A" "" "VUS" "" "0000476951" "0" "50" "10" "48388506" "48388506" "subst" "9.02912E-5" "02591" "RBP3_000040" "g.48388506G>A" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs561239259" "0" "" "" "g.47350856C>T" "" "VUS" "" "0000476952" "3" "50" "10" "48388537" "48388537" "subst" "1.23037E-5" "02591" "RBP3_000041" "g.48388537C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs145285304" "0" "" "" "g.47350825G>A" "" "VUS" "" "0000476953" "0" "50" "10" "48388976" "48388976" "subst" "0" "02591" "RBP3_000042" "g.48388976T>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.47350386A>C" "" "VUS" "" "0000476954" "0" "50" "10" "48389101" "48389101" "subst" "1.25332E-5" "02591" "RBP3_000043" "g.48389101C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs782377821" "0" "" "" "g.47350261G>A" "" "VUS" "" "0000476955" "0" "50" "10" "48389169" "48389169" "subst" "4.10607E-6" "02591" "RBP3_000044" "g.48389169G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs782172169" "0" "" "" "g.47350193C>T" "" "VUS" "" "0000476956" "0" "50" "10" "48389275" "48389275" "subst" "0.000110324" "02591" "RBP3_000045" "g.48389275G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs143632019" "0" "" "" "g.47350087C>T" "" "VUS" "" "0000476957" "0" "50" "10" "48389289" "48389289" "subst" "4.08914E-6" "02591" "RBP3_000046" "g.48389289C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.47350073G>A" "" "VUS" "" "0000476958" "0" "50" "10" "48389290" "48389290" "subst" "4.08871E-6" "02591" "RBP3_000047" "g.48389290G>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs202162675" "0" "" "" "g.47350072C>A" "" "VUS" "" "0000476959" "0" "50" "10" "48389353" "48389353" "subst" "0" "02591" "RBP3_000048" "g.48389353T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.47350009A>G" "" "VUS" "" "0000476960" "0" "50" "10" "48389524" "48389524" "subst" "0" "02591" "RBP3_000049" "g.48389524C>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.47349838G>T" "" "VUS" "" "0000476961" "0" "50" "10" "48389545" "48389545" "subst" "0.00021573" "02591" "RBP3_000050" "g.48389545C>G" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs569378041" "0" "" "" "g.47349817G>C" "" "VUS" "" "0000476962" "0" "50" "10" "48389613" "48389613" "subst" "2.04469E-5" "02591" "RBP3_000051" "g.48389613C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs781823270" "0" "" "" "g.47349749G>A" "" "VUS" "" "0000476963" "0" "50" "10" "48389662" "48389662" "subst" "7.4071E-5" "02591" "RBP3_000052" "g.48389662C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs576373730" "0" "" "" "g.47349700G>A" "" "VUS" "" "0000476964" "0" "50" "10" "48389715" "48389715" "subst" "0.000106772" "02591" "RBP3_000053" "g.48389715C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs141006781" "0" "" "" "g.47349647G>A" "" "VUS" "" "0000476965" "0" "50" "10" "48389740" "48389740" "subst" "8.19538E-6" "02591" "RBP3_000054" "g.48389740A>C" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs201355398" "0" "" "" "g.47349622T>G" "" "VUS" "" "0000476966" "0" "50" "10" "48389785" "48389785" "subst" "1.63969E-5" "02591" "RBP3_000055" "g.48389785C>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs782662883" "0" "" "" "g.47349577G>A" "" "VUS" "" "0000476967" "0" "90" "10" "48390091" "48390091" "subst" "8.64176E-5" "02591" "RBP3_000056" "g.48390091C>A" "5/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs77257977" "0" "" "" "g.47349271G>T" "" "pathogenic" "" "0000476968" "0" "50" "10" "48390292" "48390292" "subst" "1.21838E-5" "02591" "RBP3_000057" "g.48390292C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs782398712" "0" "" "" "g.47349070G>A" "" "VUS" "" "0000476969" "0" "50" "10" "48390370" "48390370" "subst" "1.62473E-5" "02591" "RBP3_000058" "g.48390370G>A" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs782449660" "0" "" "" "g.47348992C>T" "" "VUS" "" "0000476970" "0" "50" "10" "48390388" "48390388" "subst" "2.03098E-5" "02591" "RBP3_000059" "g.48390388C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs146287986" "0" "" "" "g.47348974G>A" "" "VUS" "" "0000476971" "0" "90" "10" "48390433" "48390433" "subst" "0" "02591" "RBP3_000060" "g.48390433C>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.47348929G>T" "" "pathogenic" "" "0000476972" "0" "50" "10" "48390571" "48390571" "subst" "0" "02591" "RBP3_000061" "g.48390571G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.47348791C>T" "" "VUS" "" "0000476973" "0" "50" "10" "48390638" "48390638" "subst" "0" "02591" "RBP3_000062" "g.48390638G>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.47348724C>A" "" "VUS" "" "0000477573" "3" "50" "10" "48381942" "48381942" "subst" "0.000224437" "02591" "RBP3_000031" "g.48381942C>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs3740296" "0" "" "" "g.47357420G>A" "" "VUS" "" "0000477574" "3" "10" "10" "48388228" "48388228" "subst" "0.00662818" "02591" "RBP3_000010" "g.48388228C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs11204213" "0" "" "" "g.47351134G>A" "" "benign" "" "0000539919" "0" "30" "10" "48381982" "48381982" "subst" "0.000317285" "02330" "RBP3_000026" "g.48381982G>A" "" "" "" "RBP3(NM_002900.2):c.3667C>T (p.L1223F), RBP3(NM_002900.3):c.3667C>T (p.L1223F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47357380C>T" "" "likely benign" "" "0000539920" "0" "50" "10" "48381982" "48381982" "subst" "0.000317285" "01943" "RBP3_000026" "g.48381982G>A" "" "" "" "RBP3(NM_002900.2):c.3667C>T (p.L1223F), RBP3(NM_002900.3):c.3667C>T (p.L1223F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47357380C>T" "" "VUS" "" "0000539921" "0" "50" "10" "48382067" "48382067" "subst" "2.43742E-5" "02330" "RBP3_000063" "g.48382067C>T" "" "" "" "RBP3(NM_002900.3):c.3582G>A (p.T1194=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47357295G>A" "" "VUS" "" "0000539922" "0" "50" "10" "48382113" "48382113" "subst" "0" "02330" "RBP3_000064" "g.48382113T>C" "" "" "" "RBP3(NM_002900.3):c.3536A>G (p.Q1179R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47357249A>G" "" "VUS" "" "0000539923" "0" "50" "10" "48382198" "48382198" "subst" "8.1666E-6" "02327" "RBP3_000065" "g.48382198C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47357164G>A" "" "VUS" "" "0000539924" "0" "10" "10" "48382205" "48382205" "subst" "4.08751E-6" "02330" "RBP3_000066" "g.48382205G>A" "" "" "" "RBP3(NM_002900.2):c.3444C>T (p.A1148=), RBP3(NM_002900.3):c.3444C>T (p.A1148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47357157C>T" "" "benign" "" "0000539925" "0" "50" "10" "48388122" "48388122" "subst" "4.06577E-6" "01943" "RBP3_000067" "g.48388122G>A" "" "" "" "RBP3(NM_002900.2):c.2756C>T (p.P919L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47351240C>T" "" "VUS" "" "0000539926" "0" "30" "10" "48388432" "48388432" "subst" "0.000209747" "02330" "RBP3_000038" "g.48388432C>A" "" "" "" "RBP3(NM_002900.3):c.2446G>T (p.A816S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47350930G>T" "" "likely benign" "" "0000539927" "0" "50" "10" "48388684" "48388684" "subst" "3.26014E-5" "02330" "RBP3_000068" "g.48388684C>T" "" "" "" "RBP3(NM_002900.3):c.2194G>A (p.A732T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47350678G>A" "" "VUS" "" "0000539928" "0" "10" "10" "48388710" "48388710" "subst" "0.00178399" "02330" "RBP3_000069" "g.48388710G>A" "" "" "" "RBP3(NM_002900.2):c.2168C>T (p.P723L), RBP3(NM_002900.3):c.2168C>T (p.P723L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47350652C>T" "" "benign" "" "0000539929" "0" "50" "10" "48388710" "48388710" "subst" "0.00178399" "01943" "RBP3_000069" "g.48388710G>A" "" "" "" "RBP3(NM_002900.2):c.2168C>T (p.P723L), RBP3(NM_002900.3):c.2168C>T (p.P723L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47350652C>T" "" "VUS" "" "0000539930" "0" "50" "10" "48388720" "48388720" "subst" "0" "01943" "RBP3_000070" "g.48388720C>A" "" "" "" "RBP3(NM_002900.2):c.2158G>T (p.V720F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47350642G>T" "" "VUS" "" "0000539931" "0" "70" "10" "48388842" "48388842" "subst" "0" "02330" "RBP3_000071" "g.48388842A>T" "" "" "" "RBP3(NM_002900.3):c.2036T>A (p.L679*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47350520T>A" "" "likely pathogenic" "" "0000539932" "0" "10" "10" "48389375" "48389375" "subst" "0.00186929" "02330" "RBP3_000072" "g.48389375G>A" "" "" "" "RBP3(NM_002900.3):c.1503C>T (p.A501=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47349987C>T" "" "benign" "" "0000539933" "0" "70" "10" "48389409" "48389410" "dup" "0" "02330" "RBP3_000073" "g.48389409_48389410dup" "" "" "" "RBP3(NM_002900.3):c.1470_1471dupCC (p.L491Pfs*76)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47349952_47349953dup" "" "likely pathogenic" "" "0000539935" "0" "30" "10" "48389677" "48389677" "subst" "0" "02330" "RBP3_000075" "g.48389677G>T" "" "" "" "RBP3(NM_002900.3):c.1201C>A (p.P401T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47349685C>A" "" "likely benign" "" "0000539936" "0" "30" "10" "48389699" "48389699" "subst" "0.000287489" "01943" "RBP3_000076" "g.48389699T>C" "" "" "" "RBP3(NM_002900.2):c.1179A>G (p.T393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47349663A>G" "" "likely benign" "" "0000539938" "0" "30" "10" "48389954" "48389954" "subst" "0.000760316" "01943" "RBP3_000078" "g.48389954C>T" "" "" "" "RBP3(NM_002900.2):c.924G>A (p.P308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47349408G>A" "" "likely benign" "" "0000539939" "0" "50" "10" "48389955" "48389955" "subst" "8.36037E-6" "01943" "RBP3_000079" "g.48389955G>A" "" "" "" "RBP3(NM_002900.2):c.923C>T (p.P308L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47349407C>T" "" "VUS" "" "0000539940" "0" "30" "10" "48390035" "48390035" "subst" "0.00228156" "01943" "RBP3_000080" "g.48390035G>A" "" "" "" "RBP3(NM_002900.2):c.843C>T (p.P281=), RBP3(NM_002900.3):c.843C>T (p.P281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47349327C>T" "" "likely benign" "" "0000539941" "0" "10" "10" "48390062" "48390062" "subst" "0.00115188" "01943" "RBP3_000025" "g.48390062G>T" "" "" "" "RBP3(NM_002900.2):c.816C>A (p.G272=), RBP3(NM_002900.3):c.816C>A (p.G272=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47349300C>A" "" "benign" "" "0000539942" "0" "30" "10" "48390370" "48390370" "subst" "4.06184E-6" "01943" "RBP3_000081" "g.48390370G>T" "" "" "" "RBP3(NM_002900.2):c.508C>A (p.R170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47348992C>A" "" "likely benign" "" "0000539943" "0" "10" "10" "48390391" "48390391" "subst" "0.00143784" "02330" "RBP3_000082" "g.48390391A>G" "" "" "" "RBP3(NM_002900.3):c.487T>C (p.S163P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47348971T>C" "" "benign" "" "0000612470" "0" "10" "10" "48383851" "48383851" "subst" "0.00094617" "02330" "RBP3_000083" "g.48383851C>T" "" "" "" "RBP3(NM_002900.3):c.3381G>A (p.Q1127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47355511G>A" "" "benign" "" "0000612471" "0" "30" "10" "48390752" "48390752" "subst" "0.000410602" "01943" "RBP3_000084" "g.48390752C>T" "" "" "" "RBP3(NM_002900.2):c.126G>A (p.P42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47348610G>A" "" "likely benign" "" "0000647902" "1" "10" "10" "48388228" "48388228" "subst" "0.00662818" "03575" "RBP3_000010" "g.48388228C>T" "52/2786 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "52 heterozygous, no homozygous; {DB:CLININrs11204213}" "Germline" "" "rs11204213" "0" "" "" "g.47351134G>A" "" "benign" "" "0000656487" "0" "50" "10" "48383885" "48383885" "subst" "0" "01943" "RBP3_000085" "g.48383885T>A" "" "" "" "RBP3(NM_002900.2):c.3347A>T (p.D1116V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47355477A>T" "" "VUS" "" "0000656488" "0" "50" "10" "48389125" "48389125" "subst" "2.07835E-5" "01943" "RBP3_000086" "g.48389125G>T" "" "" "" "RBP3(NM_002900.2):c.1753C>A (p.P585T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47350237C>A" "" "VUS" "" "0000656489" "0" "50" "10" "48389162" "48389162" "subst" "0" "02325" "RBP3_000087" "g.48389162G>T" "" "" "" "RBP3(NM_002900.3):c.1716C>A (p.N572K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47350200C>A" "" "VUS" "" "0000685387" "0" "90" "10" "48383853" "48383853" "subst" "0" "00004" "RBP3_000029" "g.48383853G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000713433" "3" "90" "10" "48390044" "48390046" "del" "1.66506E-5" "00000" "RBP3_000088" "g.48390044_48390046del" "" "{PMID:Carss 2017:28041643}" "" "10:48390043TGAA>T ENST00000224600.4:c.832_834delTTC (Phe278del)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000722821" "0" "50" "10" "48386007" "48386007" "subst" "2.03209E-5" "02329" "RBP3_000008" "g.48386007T>C" "" "" "" "RBP3(NM_002900.3):c.3085A>G (p.I1029V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722822" "0" "30" "10" "48388259" "48388259" "subst" "0.00117572" "01943" "RBP3_000011" "g.48388259G>A" "" "" "" "RBP3(NM_002900.2):c.2619C>T (p.A873=), RBP3(NM_002900.3):c.2619C>T (p.A873=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722823" "0" "50" "10" "48388573" "48388573" "subst" "0" "02329" "RBP3_000015" "g.48388573A>G" "" "" "" "RBP3(NM_002900.3):c.2305T>C (p.W769R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722824" "0" "30" "10" "48390527" "48390527" "subst" "8.93793E-5" "01943" "RBP3_000089" "g.48390527C>T" "" "" "" "RBP3(NM_002900.2):c.351G>A (p.L117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000732494" "0" "50" "10" "48382103" "48382103" "subst" "0.00186889" "00000" "RBP3_000004" "g.48382103G>A" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.47357259C>T" "" "VUS" "" "0000732514" "0" "90" "10" "48388322" "48388322" "subst" "0.00020184" "00000" "RBP3_000091" "g.48388322G>A" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.47351040C>T" "" "pathogenic" "" "0000734334" "1" "70" "10" "48382014" "48382014" "subst" "0.000495766" "00000" "RBP3_000032" "g.48382014G>A" "" "{PMID:Huang 2017:28512305}" "" "" "" "Germline" "" "" "0" "" "" "g.47357348C>T" "" "likely pathogenic" "" "0000734335" "1" "70" "10" "48390091" "48390091" "subst" "8.64176E-5" "00000" "RBP3_000056" "g.48390091C>A" "" "{PMID:Huang 2017:28512305}" "" "" "" "Germline" "" "" "0" "" "" "g.47349271G>T" "" "likely pathogenic" "" "0000734389" "2" "70" "10" "48388275" "48388275" "subst" "5.37657E-5" "00000" "RBP3_000090" "g.48388275A>G" "" "{PMID:Huang 2017:28512305}" "" "" "" "Germline" "" "" "0" "" "" "g.47351087T>C" "" "likely pathogenic" "" "0000734390" "2" "70" "10" "48390781" "48390781" "subst" "2.8478E-5" "00000" "RBP3_000092" "g.48390781T>C" "" "{PMID:Huang 2017:28512305}" "" "" "" "Germline" "" "" "0" "" "" "g.47348581A>G" "" "likely pathogenic" "" "0000784133" "0" "70" "10" "48390477" "48390477" "subst" "4.0618E-6" "00000" "RBP3_000096" "g.48390477C>T" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.47348885G>A" "" "likely pathogenic (recessive)" "" "0000784141" "0" "70" "10" "48382198" "48382198" "subst" "8.1666E-6" "00000" "RBP3_000065" "g.48382198C>T" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.47357164G>A" "" "likely pathogenic (recessive)" "" "0000784144" "0" "70" "10" "48389841" "48389841" "subst" "0.00739397" "00000" "RBP3_000023" "g.48389841C>T" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs111245635" "0" "" "" "g.47349521G>A" "" "likely pathogenic (recessive)" "" "0000784160" "0" "50" "10" "48382014" "48382014" "subst" "0.000495766" "00000" "RBP3_000032" "g.48382014G>A" "5/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs147796755" "0" "" "" "g.47357348C>T" "" "VUS" "" "0000784298" "0" "50" "10" "48382014" "48382014" "subst" "0.000495766" "00000" "RBP3_000032" "g.48382014G>A" "5/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs147796755" "0" "" "" "g.47357348C>T" "" "VUS" "" "0000784358" "0" "70" "10" "48390460" "48390460" "subst" "0" "00000" "RBP3_000095" "g.48390460C>G" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs34932849" "0" "" "" "g.47348902G>C" "" "likely pathogenic (recessive)" "" "0000784396" "0" "70" "10" "48389545" "48389545" "subst" "0.00021573" "00000" "RBP3_000050" "g.48389545C>G" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.47349817G>C" "" "likely pathogenic (recessive)" "" "0000784442" "0" "50" "10" "48389707" "48389707" "subst" "8.62962E-5" "00000" "RBP3_000094" "g.48389707C>T" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs142210499" "0" "" "" "g.47349655G>A" "" "VUS" "" "0000784457" "0" "50" "10" "48382014" "48382014" "subst" "0.000495766" "00000" "RBP3_000032" "g.48382014G>A" "5/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs147796755" "0" "" "" "g.47357348C>T" "" "VUS" "" "0000784491" "0" "50" "10" "48382014" "48382014" "subst" "0.000495766" "00000" "RBP3_000032" "g.48382014G>A" "5/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs147796755" "0" "" "" "g.47357348C>T" "" "VUS" "" "0000784525" "0" "50" "10" "48382014" "48382014" "subst" "0.000495766" "00000" "RBP3_000032" "g.48382014G>A" "5/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs147796755" "0" "" "" "g.47357348C>T" "" "VUS" "" "0000784539" "0" "50" "10" "48387979" "48387979" "subst" "0.000199067" "00000" "RBP3_000093" "g.48387979C>T" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.47351383G>A" "" "VUS" "" "0000788424" "0" "50" "10" "48389785" "48389785" "subst" "1.63969E-5" "00000" "RBP3_000055" "g.48389785C>T" "" "{PMID:Katagiri 2014:25268133}" "" "G1093A" "" "Germline" "" "" "0" "" "" "g.47349577G>A" "" "VUS" "" "0000790458" "0" "50" "10" "48389247" "48389247" "subst" "0.00221539" "00000" "RBP3_000019" "g.48389247C>T" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs41284962" "0" "" "" "g.47350115G>A" "" "VUS" "" "0000790483" "0" "50" "10" "48390546" "48390546" "subst" "0" "00000" "RBP3_000100" "g.48390546T>C" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "g.47348816A>G" "" "VUS" "" "0000790579" "0" "50" "10" "48390466" "48390466" "subst" "6.49931E-5" "00000" "RBP3_000099" "g.48390466C>T" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs202076554" "0" "" "" "g.47348896G>A" "" "VUS" "" "0000790587" "0" "50" "10" "48389662" "48389662" "subst" "7.4071E-5" "00000" "RBP3_000052" "g.48389662C>T" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "g.47349700G>A" "" "VUS" "" "0000790618" "0" "50" "10" "48390193" "48390193" "subst" "8.12618E-6" "00000" "RBP3_000098" "g.48390193C>A" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "g.47349169G>T" "" "VUS" "" "0000790619" "3" "50" "10" "48390579" "48390579" "subst" "0.00024803" "00000" "RBP3_000101" "g.48390579G>A" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs143076262" "0" "" "" "g.47348783C>T" "" "VUS" "" "0000790634" "0" "50" "10" "48386030" "48386030" "subst" "0.000394646" "00000" "RBP3_000097" "g.48386030G>T" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs148591757" "0" "" "" "g.47353332C>A" "" "VUS" "" "0000791604" "0" "50" "10" "47350291" "47350291" "subst" "0" "00000" "RBP3_000102" "g.47350291G>A" "" "{PMID:Hosono 2018:29844330}" "" "c.1807G>A" "single heterozygous variant in a recessive gene, probably not causative in the patient" "Germline" "no" "rs202017297" "0" "" "" "g.48389071C>T" "" "VUS" "ACMG" "0000796688" "0" "70" "10" "48388786" "48388786" "subst" "0" "00000" "RBP3_000104" "g.48388786G>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.2092C>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796745" "0" "70" "10" "48388089" "48388089" "subst" "4.46987E-5" "00000" "RBP3_000103" "g.48388089A>G" "" "{PMID:Eisenberger-2013:24265693}" "" "c.2789T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796815" "0" "70" "10" "48390388" "48390388" "subst" "2.03098E-5" "00000" "RBP3_000059" "g.48390388C>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.490G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000798515" "3" "10" "10" "48390890" "48390890" "subst" "0.0976182" "00000" "RBP3_000115" "g.48390890G>A" "3.5% of 216 patients" "{PMID:Ksantini-2010:21067480}" "" "c.-13C>T" "" "Germline" "" "rs41284964" "0" "" "" "" "" "benign" "" "0000798516" "0" "30" "10" "48390641" "48390641" "subst" "0" "00000" "RBP3_000114" "g.48390641C>T" "0.5% of 216 patients" "{PMID:Ksantini-2010:21067480}" "" "c.237G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000798517" "3" "10" "10" "48390041" "48390041" "subst" "0.105482" "00000" "RBP3_000028" "g.48390041C>T" "13.2% of 216 patients" "{PMID:Ksantini-2010:21067480}" "" "c.837G>A" "" "Germline" "" "rs2376635" "0" "" "" "" "" "benign" "" "0000798518" "0" "10" "10" "48389954" "48389954" "subst" "0.000760316" "00000" "RBP3_000078" "g.48389954C>T" "0.5% of 216 patients" "{PMID:Ksantini-2010:21067480}" "" "c.924G>A" "" "Germline" "" "rs35746996" "0" "" "" "" "" "benign" "" "0000798519" "0" "10" "10" "48389841" "48389841" "subst" "0.00739397" "00000" "RBP3_000023" "g.48389841C>T" "0.5% of 216 patients" "{PMID:Ksantini-2010:21067480}" "" "c.1037G>A" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000798520" "0" "10" "10" "48388783" "48388783" "subst" "0" "00000" "RBP3_000113" "g.48388783G>A" "0.5% of 216 patients" "{PMID:Ksantini-2010:21067480}" "" "c.2095C>T" "" "Germline" "" "rs17095789" "0" "" "" "" "" "benign" "" "0000798521" "0" "10" "10" "48381686" "48381686" "subst" "0" "00000" "RBP3_000105" "g.48381686G>A" "0.5% of 216 patients" "{PMID:Ksantini-2010:21067480}" "" "c.*219C>T" "" "Germline" "" "rs3494" "0" "" "" "" "" "benign" "" "0000798522" "0" "10" "10" "48388710" "48388710" "subst" "0.00178399" "00000" "RBP3_000069" "g.48388710G>A" "0.5% of 216 patients" "{PMID:Ksantini-2010:21067480}" "" "c.2168C>T" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000798523" "0" "10" "10" "48388631" "48388631" "subst" "0.00598634" "00000" "RBP3_000112" "g.48388631G>A" "0.5% of 216 patients" "{PMID:Ksantini-2010:21067480}" "" "c.2247C>T" "" "Germline" "" "rs34691259" "0" "" "" "" "" "benign" "" "0000798524" "0" "30" "10" "48387852" "48387852" "subst" "4.06256E-5" "00000" "RBP3_000111" "g.48387852T>A" "0.5% of 216 patients" "{PMID:Ksantini-2010:21067480}" "" "c.3026A>T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000798525" "0" "30" "10" "48381840" "48381840" "subst" "0" "00000" "RBP3_000106" "g.48381840G>A" "0.5% of 216 patients" "{PMID:Ksantini-2010:21067480}" "" "c.*65C>T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000798526" "0" "30" "10" "48387788" "48387788" "subst" "0.000742863" "00000" "RBP3_000110" "g.48387788G>A" "0.5% of 216 patients" "{PMID:Ksantini-2010:21067480}" "" "c.3054+36C>T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000798527" "3" "30" "10" "48385703" "48385703" "subst" "0" "00000" "RBP3_000109" "g.48385703C>T" "23.0% of 216 patients" "{PMID:Ksantini-2010:21067480}" "" "c.3245+144G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000798528" "0" "30" "10" "48384075" "48384075" "subst" "0" "00000" "RBP3_000108" "g.48384075T>C" "0.5% of 216 patients" "{PMID:Ksantini-2010:21067480}" "" "c.3246-89A>G" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000798529" "0" "30" "10" "48383856" "48383856" "subst" "0.000263955" "00000" "RBP3_000107" "g.48383856C>T" "0.5% of 216 patients; 0/100 controls" "{PMID:Ksantini-2010:21067480}" "" "c.3376G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000804425" "0" "30" "10" "48382205" "48382205" "subst" "4.08751E-6" "01943" "RBP3_000066" "g.48382205G>A" "" "" "" "RBP3(NM_002900.2):c.3444C>T (p.A1148=), RBP3(NM_002900.3):c.3444C>T (p.A1148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804426" "0" "10" "10" "48389069" "48389069" "subst" "0.00121275" "02330" "RBP3_000116" "g.48389069G>A" "" "" "" "RBP3(NM_002900.3):c.1809C>T (p.G603=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000804427" "0" "30" "10" "48390035" "48390035" "subst" "0.00228156" "02330" "RBP3_000080" "g.48390035G>A" "" "" "" "RBP3(NM_002900.2):c.843C>T (p.P281=), RBP3(NM_002900.3):c.843C>T (p.P281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804428" "0" "30" "10" "48390161" "48390161" "subst" "3.66056E-5" "02330" "RBP3_000117" "g.48390161G>A" "" "" "" "RBP3(NM_002900.3):c.717C>T (p.A239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000815451" "0" "50" "10" "48388252" "48388252" "subst" "0.000453261" "00000" "RBP3_000118" "g.48388252C>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RBP3:NM_002900 c.G2626T, p.A876S" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.47351110G>T" "" "VUS" "ACMG" "0000815522" "0" "50" "10" "48388801" "48388801" "subst" "0.00227291" "00000" "RBP3_000016" "g.48388801C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RBP3:NM_002900 c.G2077A, p.V693M" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.47350561G>A" "" "VUS" "ACMG" "0000815552" "0" "50" "10" "48388561" "48388561" "subst" "2.4591E-5" "00000" "RBP3_000119" "g.48388561C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RBP3:NM_002900 c.G2317A, p.V773M" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.47350801G>A" "" "VUS" "ACMG" "0000815586" "0" "50" "10" "48388608" "48388608" "subst" "1.63248E-5" "00000" "RBP3_000120" "g.48388608A>C" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "RBP3:NM_002900 c.T2270G, p.V757G" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.47350754T>G" "" "VUS" "ACMG" "0000816280" "0" "50" "10" "48388804" "48388804" "subst" "0" "00000" "RBP3_000121" "g.48388804C>A" "" "{PMID:Zampaglione 2020:32037395}" "" "RBP3 c.2074G>T, p.Glu692Ter" "unsolved" "Unknown" "?" "" "0" "" "" "g.47350558G>T" "" "VUS" "" "0000820431" "1" "70" "10" "48390411" "48390411" "subst" "0" "00000" "RBP3_000123" "g.48390411C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "RBP3, variant 1: c.467G>C/p.W156S, variant 2: c.3050T>A/p.M1017K" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.47348951G>C" "" "likely pathogenic" "" "0000820913" "1" "70" "10" "48387828" "48387828" "subst" "0" "00000" "RBP3_000122" "g.48387828A>T" "" "{PMID:Weisschuh 2020:32531858}" "" "RBP3, variant 1: c.467G>C/p.W156S, variant 2: c.3050T>A/p.M1017K" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.47351534T>A" "" "likely pathogenic" "" "0000821348" "3" "70" "10" "48390051" "48390053" "del" "0" "00000" "RBP3_000088" "g.48390051_48390053del" "" "{PMID:Turro 2020:32581362}" "" "RBP3 c.832_834delTTC, p.Phe278del" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.47349316_47349318del" "" "likely pathogenic" "" "0000824269" "0" "70" "10" "48390051" "48390053" "del" "0" "00000" "RBP3_000088" "g.48390051_48390053del" "" "{PMID:Bell 2021:33494148}" "" "RBP3 c.832_834delTTC, p.(Phe278del)" "homozygous" "Germline" "yes" "" "0" "" "" "g.47349316_47349318del" "" "likely pathogenic" "" "0000829709" "1" "70" "10" "48390629" "48390629" "subst" "0" "00006" "RBP3_000125" "g.48390629G>T" "" "{PMID:Ellingford 2016:26872967}" "" "" "" "Germline" "" "" "0" "" "" "g.47348733C>A" "" "likely pathogenic" "" "0000829730" "2" "70" "10" "48389641" "48389641" "subst" "0" "00006" "RBP3_000124" "g.48389641G>A" "" "{PMID:Ellingford 2016:26872967}" "" "" "" "Germline" "" "" "0" "" "" "g.47349721C>T" "" "likely pathogenic" "" "0000852491" "0" "30" "10" "48389072" "48389072" "subst" "7.07932E-5" "01943" "RBP3_000017" "g.48389072G>A" "" "" "" "RBP3(NM_002900.2):c.1806C>T (p.H602=), RBP3(NM_002900.3):c.1806C>T (p.H602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861910" "0" "30" "10" "48388228" "48388228" "subst" "0.00662818" "01804" "RBP3_000010" "g.48388228C>T" "" "" "" "RBP3(NM_002900.2):c.2650G>A (p.V884M, p.(Val884Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861911" "0" "50" "10" "48390388" "48390388" "subst" "0.000800208" "01943" "RBP3_000126" "g.48390388C>A" "" "" "" "RBP3(NM_002900.2):c.490G>T (p.A164S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000868730" "3" "70" "10" "48389348" "48389348" "subst" "0" "00000" "RBP3_000129" "g.48389348A>T" "" "{PMID:Arno 2015:25766589}" "" "RBP3 c.1530T>A;p.Y510*" "homozygous" "Germline" "yes" "" "0" "" "" "g.47350014T>A" "" "likely pathogenic" "" "0000868731" "3" "70" "10" "48389348" "48389348" "subst" "0" "00000" "RBP3_000129" "g.48389348A>T" "" "{PMID:Arno 2015:25766589}" "" "RBP3 c.1530T>A;p.Y510*" "homozygous" "Germline" "yes" "" "0" "" "" "g.47350014T>A" "" "likely pathogenic" "" "0000868732" "3" "70" "10" "48382195" "48382195" "subst" "0" "00000" "RBP3_000127" "g.48382195C>A" "" "{PMID:Arno 2015:25766589}" "" "RBP3 c.3454G>T;p.E1152*" "homozygous" "Germline" "yes" "" "0" "" "" "g.47357167G>T" "" "likely pathogenic" "" "0000868733" "3" "70" "10" "48382195" "48382195" "subst" "0" "00000" "RBP3_000127" "g.48382195C>A" "" "{PMID:Arno 2015:25766589}" "" "RBP3 c.3454G>T;p.E1152*" "homozygous" "Germline" "yes" "" "0" "" "" "g.47357167G>T" "" "likely pathogenic" "" "0000868739" "3" "70" "10" "48385854" "48385854" "subst" "4.06217E-6" "00000" "RBP3_000128" "g.48385854C>T" "" "{PMID:den Hollander 2009:19074801}" "" "RBP3 c.3238G>A, p.Asp1080Asn" "mutation abolishes secretion of IRBP and resulted in formation of insoluble HMCs via disulfide bonds (Li 2013); homozygous" "Germline" "yes" "" "0" "" "" "g.47353508G>A" "" "likely pathogenic" "" "0000868740" "3" "70" "10" "48385854" "48385854" "subst" "4.06217E-6" "00000" "RBP3_000128" "g.48385854C>T" "" "{PMID:den Hollander 2009:19074801}" "" "RBP3 c.3238G>A, p.Asp1080Asn" "mutation abolishes secretion of IRBP and resulted in formation of insoluble HMCs via disulfide bonds (Li 2013); homozygous" "Germline" "yes" "" "0" "" "" "g.47353508G>A" "" "likely pathogenic" "" "0000868741" "3" "70" "10" "48385854" "48385854" "subst" "4.06217E-6" "00000" "RBP3_000128" "g.48385854C>T" "" "{PMID:den Hollander 2009:19074801}" "" "RBP3 c.3238G>A, p.Asp1080Asn" "mutation abolishes secretion of IRBP and resulted in formation of insoluble HMCs via disulfide bonds (Li 2013); homozygous" "Germline" "yes" "" "0" "" "" "g.47353508G>A" "" "likely pathogenic" "" "0000868742" "3" "70" "10" "48385854" "48385854" "subst" "4.06217E-6" "00000" "RBP3_000128" "g.48385854C>T" "" "{PMID:den Hollander 2009:19074801}" "" "RBP3 c.3238G>A, p.Asp1080Asn" "mutation abolishes secretion of IRBP and resulted in formation of insoluble HMCs via disulfide bonds (Li 2013); homozygous" "Germline" "yes" "" "0" "" "" "g.47353508G>A" "" "likely pathogenic" "" "0000868743" "0" "70" "10" "48389662" "48389662" "subst" "0" "00000" "RBP3_000130" "g.48389662C>A" "" "{PMID:den Hollander 2009:19074801}" "" "RBP3 c.1216G>T, p.Glu406X" "heterozygous, probably a chane finding (unaffected brother has the same haplotype on both alleles)" "Germline" "yes" "" "0" "" "" "g.47349700G>T" "" "likely pathogenic" "" "0000889139" "0" "30" "10" "48388547" "48388547" "subst" "0.000180423" "02330" "RBP3_000131" "g.48388547C>T" "" "" "" "RBP3(NM_002900.3):c.2331G>A (p.A777=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889140" "0" "10" "10" "48389582" "48389582" "subst" "0.000909595" "02330" "RBP3_000132" "g.48389582C>T" "" "" "" "RBP3(NM_002900.3):c.1296G>A (p.V432=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000889141" "0" "30" "10" "48389834" "48389834" "subst" "0.00233446" "02330" "RBP3_000133" "g.48389834G>A" "" "" "" "RBP3(NM_002900.3):c.1044C>T (p.P348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000905919" "0" "50" "10" "48388608" "48388608" "subst" "1.63248E-5" "00000" "RBP3_000120" "g.48388608A>C" "" "{PMID:Zhu 2022:35456422}" "" "RBP3 c.2270T>G, p.(Val757Gly)" "heterozygous, probably non-causal incidental finding" "Germline/De novo (untested)" "?" "" "0" "" "" "g.47350754T>G" "" "VUS" "ACMG" "0000949396" "0" "30" "10" "48382022" "48382022" "subst" "8.12698E-6" "02330" "RBP3_000134" "g.48382022C>A" "" "" "" "RBP3(NM_002900.3):c.3627G>T (p.V1209=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998301" "0" "30" "10" "48388600" "48388600" "subst" "8.17434E-6" "01804" "RBP3_000135" "g.48388600C>T" "" "" "" "RBP3(NM_002900.2):c.2278G>A (p.(Val760Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes RBP3 ## Count = 178 "{{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}}" "0000090891" "00017559" "90" "1162" "0" "1162" "0" "c.1162C>T" "r.(?)" "p.(Arg388*)" "1" "0000162809" "00017559" "90" "3353" "0" "3354" "0" "c.3353_3354del" "r.(?)" "p.(Ser1118Cysfs*3)" "3" "0000246911" "00017559" "10" "2476" "0" "2476" "0" "c.2476T>C" "r.(?)" "p.(Leu826=)" "" "0000254746" "00017559" "30" "2759" "0" "2759" "0" "c.2759T>C" "r.(?)" "p.(Met920Thr)" "" "0000294755" "00017559" "50" "1141" "0" "1141" "0" "c.1141G>C" "r.(?)" "p.(Glu381Gln)" "" "0000294756" "00017559" "50" "1436" "0" "1436" "0" "c.1436G>A" "r.(?)" "p.(Arg479His)" "" "0000294757" "00017559" "50" "1604" "0" "1604" "0" "c.1604G>A" "r.(?)" "p.(Arg535His)" "" "0000294758" "00017559" "10" "1806" "0" "1806" "0" "c.1806C>T" "r.(?)" "p.(His602=)" "" "0000294759" "00017559" "10" "2077" "0" "2077" "0" "c.2077G>A" "r.(?)" "p.(Val693Met)" "" "0000294760" "00017559" "10" "2416" "0" "2416" "0" "c.2416C>T" "r.(?)" "p.(Arg806Cys)" "" "0000294761" "00017559" "10" "2619" "0" "2619" "0" "c.2619C>T" "r.(?)" "p.(Ala873=)" "" "0000294763" "00017559" "10" "3245" "14" "3245" "14" "c.3245+14G>T" "r.(=)" "p.(=)" "" "0000294764" "00017559" "50" "3388" "0" "3388" "0" "c.3388G>A" "r.(?)" "p.(Gly1130Ser)" "" "0000294765" "00017559" "30" "3434" "0" "3434" "0" "c.3434G>T" "r.(?)" "p.(Ser1145Ile)" "" "0000294766" "00017559" "10" "3546" "0" "3546" "0" "c.3546C>T" "r.(?)" "p.(His1182=)" "" "0000294767" "00017559" "10" "816" "0" "816" "0" "c.816C>A" "r.(?)" "p.(Gly272=)" "" "0000294768" "00017559" "10" "927" "0" "927" "0" "c.927C>T" "r.(?)" "p.(Ala309=)" "" "0000306882" "00017559" "30" "1037" "0" "1037" "0" "c.1037G>A" "r.(?)" "p.(Arg346His)" "" "0000306883" "00017559" "30" "1631" "0" "1631" "0" "c.1631G>A" "r.(?)" "p.(Arg544His)" "" "0000306884" "00017559" "50" "1795" "0" "1795" "0" "c.1795A>G" "r.(?)" "p.(Ile599Val)" "" "0000306885" "00017559" "30" "2490" "0" "2490" "0" "c.2490C>T" "r.(?)" "p.(Ala830=)" "" "0000306886" "00017559" "50" "2650" "0" "2650" "0" "c.2650G>A" "r.(?)" "p.(Val884Met)" "" "0000306887" "00017559" "50" "3715" "0" "3715" "0" "c.3715C>T" "r.(?)" "p.(Arg1239Trp)" "" "0000341007" "00017559" "10" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Thr279=)" "" "0000342694" "00017559" "10" "1037" "0" "1037" "0" "c.1037G>A" "r.(?)" "p.(Arg346His)" "" "0000344872" "00017559" "50" "1490" "0" "1490" "0" "c.1490A>G" "r.(?)" "p.(Gln497Arg)" "" "0000346776" "00017559" "50" "1795" "0" "1795" "0" "c.1795A>G" "r.(?)" "p.(Ile599Val)" "" "0000346867" "00017559" "50" "3667" "0" "3667" "0" "c.3667C>T" "r.(?)" "p.(Leu1223Phe)" "" "0000358315" "00017559" "90" "3379" "0" "3379" "0" "c.3379C>T" "r.(?)" "p.(Gln1127*)" "3" "0000476940" "00017559" "50" "3709" "0" "3709" "0" "c.3709G>A" "r.(?)" "p.(Val1237Met)" "" "0000476941" "00017559" "50" "3707" "0" "3707" "0" "c.3707G>A" "r.(?)" "p.(Arg1236Lys)" "" "0000476942" "00017559" "50" "3635" "0" "3635" "0" "c.3635C>T" "r.(?)" "p.(Thr1212Ile)" "" "0000476943" "00017559" "50" "3307" "0" "3307" "0" "c.3307G>A" "r.(?)" "p.(Gly1103Ser)" "" "0000476944" "00017559" "50" "2980" "0" "2980" "0" "c.2980G>A" "r.(?)" "p.(Gly994Arg)" "" "0000476945" "00017559" "50" "2971" "0" "2973" "0" "c.2971_2973del" "r.(?)" "p.(Met991del)" "" "0000476946" "00017559" "50" "2884" "0" "2884" "0" "c.2884G>A" "r.(?)" "p.(Ala962Thr)" "" "0000476947" "00017559" "10" "2650" "0" "2650" "0" "c.2650G>A" "r.(?)" "p.(Val884Met)" "" "0000476948" "00017559" "50" "2647" "0" "2647" "0" "c.2647C>G" "r.(?)" "p.(Gln883Glu)" "" "0000476949" "00017559" "50" "2446" "0" "2446" "0" "c.2446G>T" "r.(?)" "p.(Ala816Ser)" "" "0000476950" "00017559" "50" "2407" "0" "2407" "0" "c.2407G>A" "r.(?)" "p.(Ala803Thr)" "" "0000476951" "00017559" "50" "2372" "0" "2372" "0" "c.2372C>T" "r.(?)" "p.(Thr791Met)" "" "0000476952" "00017559" "50" "2341" "0" "2341" "0" "c.2341G>A" "r.(?)" "p.(Asp781Asn)" "" "0000476953" "00017559" "50" "1902" "0" "1902" "0" "c.1902A>C" "r.(?)" "p.(Gln634His)" "" "0000476954" "00017559" "50" "1777" "0" "1777" "0" "c.1777G>A" "r.(?)" "p.(Val593Met)" "" "0000476955" "00017559" "50" "1709" "0" "1709" "0" "c.1709C>T" "r.(?)" "p.(Ala570Val)" "" "0000476956" "00017559" "50" "1603" "0" "1603" "0" "c.1603C>T" "r.(?)" "p.(Arg535Cys)" "" "0000476957" "00017559" "50" "1589" "0" "1589" "0" "c.1589G>A" "r.(?)" "p.(Arg530His)" "" "0000476958" "00017559" "50" "1588" "0" "1588" "0" "c.1588C>A" "r.(?)" "p.(Arg530Ser)" "" "0000476959" "00017559" "50" "1525" "0" "1525" "0" "c.1525A>G" "r.(?)" "p.(Thr509Ala)" "" "0000476960" "00017559" "50" "1354" "0" "1354" "0" "c.1354G>T" "r.(?)" "p.(Val452Phe)" "" "0000476961" "00017559" "50" "1333" "0" "1333" "0" "c.1333G>C" "r.(?)" "p.(Asp445His)" "" "0000476962" "00017559" "50" "1265" "0" "1265" "0" "c.1265G>A" "r.(?)" "p.(Arg422Gln)" "" "0000476963" "00017559" "50" "1216" "0" "1216" "0" "c.1216G>A" "r.(?)" "p.(Glu406Lys)" "" "0000476964" "00017559" "50" "1163" "0" "1163" "0" "c.1163G>A" "r.(?)" "p.(Arg388Gln)" "" "0000476965" "00017559" "50" "1138" "0" "1138" "0" "c.1138T>G" "r.(?)" "p.(Ser380Ala)" "" "0000476966" "00017559" "50" "1093" "0" "1093" "0" "c.1093G>A" "r.(?)" "p.(Glu365Lys)" "" "0000476967" "00017559" "90" "787" "0" "787" "0" "c.787G>T" "r.(?)" "p.(Ala263Ser)" "" "0000476968" "00017559" "50" "586" "0" "586" "0" "c.586G>A" "r.(?)" "p.(Val196Met)" "" "0000476969" "00017559" "50" "508" "0" "508" "0" "c.508C>T" "r.(?)" "p.(Arg170Trp)" "" "0000476970" "00017559" "50" "490" "0" "490" "0" "c.490G>A" "r.(?)" "p.(Ala164Thr)" "" "0000476971" "00017559" "90" "445" "0" "445" "0" "c.445G>T" "r.(?)" "p.(Glu149*)" "" "0000476972" "00017559" "50" "307" "0" "307" "0" "c.307C>T" "r.(?)" "p.(Pro103Ser)" "" "0000476973" "00017559" "50" "240" "0" "240" "0" "c.240C>A" "r.(?)" "p.(Ser80Arg)" "" "0000477573" "00017559" "50" "3707" "0" "3707" "0" "c.3707G>A" "r.(?)" "p.(Arg1236Lys)" "" "0000477574" "00017559" "10" "2650" "0" "2650" "0" "c.2650G>A" "r.(?)" "p.(Val884Met)" "" "0000539919" "00017559" "30" "3667" "0" "3667" "0" "c.3667C>T" "r.(?)" "p.(Leu1223Phe)" "" "0000539920" "00017559" "50" "3667" "0" "3667" "0" "c.3667C>T" "r.(?)" "p.(Leu1223Phe)" "" "0000539921" "00017559" "50" "3582" "0" "3582" "0" "c.3582G>A" "r.(?)" "p.(Thr1194=)" "" "0000539922" "00017559" "50" "3536" "0" "3536" "0" "c.3536A>G" "r.(?)" "p.(Gln1179Arg)" "" "0000539923" "00017559" "50" "3451" "0" "3451" "0" "c.3451G>A" "r.(?)" "p.(Ala1151Thr)" "" "0000539924" "00017559" "10" "3444" "0" "3444" "0" "c.3444C>T" "r.(?)" "p.(Ala1148=)" "" "0000539925" "00017559" "50" "2756" "0" "2756" "0" "c.2756C>T" "r.(?)" "p.(Pro919Leu)" "" "0000539926" "00017559" "30" "2446" "0" "2446" "0" "c.2446G>T" "r.(?)" "p.(Ala816Ser)" "" "0000539927" "00017559" "50" "2194" "0" "2194" "0" "c.2194G>A" "r.(?)" "p.(Ala732Thr)" "" "0000539928" "00017559" "10" "2168" "0" "2168" "0" "c.2168C>T" "r.(?)" "p.(Pro723Leu)" "" "0000539929" "00017559" "50" "2168" "0" "2168" "0" "c.2168C>T" "r.(?)" "p.(Pro723Leu)" "" "0000539930" "00017559" "50" "2158" "0" "2158" "0" "c.2158G>T" "r.(?)" "p.(Val720Phe)" "" "0000539931" "00017559" "70" "2036" "0" "2036" "0" "c.2036T>A" "r.(?)" "p.(Leu679Ter)" "" "0000539932" "00017559" "10" "1503" "0" "1503" "0" "c.1503C>T" "r.(?)" "p.(Ala501=)" "" "0000539933" "00017559" "70" "1470" "0" "1471" "0" "c.1470_1471dup" "r.(?)" "p.(Leu491ProfsTer76)" "" "0000539935" "00017559" "30" "1201" "0" "1201" "0" "c.1201C>A" "r.(?)" "p.(Pro401Thr)" "" "0000539936" "00017559" "30" "1179" "0" "1179" "0" "c.1179A>G" "r.(?)" "p.(Thr393=)" "" "0000539938" "00017559" "30" "924" "0" "924" "0" "c.924G>A" "r.(?)" "p.(Pro308=)" "" "0000539939" "00017559" "50" "923" "0" "923" "0" "c.923C>T" "r.(?)" "p.(Pro308Leu)" "" "0000539940" "00017559" "30" "843" "0" "843" "0" "c.843C>T" "r.(?)" "p.(Pro281=)" "" "0000539941" "00017559" "10" "816" "0" "816" "0" "c.816C>A" "r.(?)" "p.(Gly272=)" "" "0000539942" "00017559" "30" "508" "0" "508" "0" "c.508C>A" "r.(?)" "p.(Arg170=)" "" "0000539943" "00017559" "10" "487" "0" "487" "0" "c.487T>C" "r.(?)" "p.(Ser163Pro)" "" "0000612470" "00017559" "10" "3381" "0" "3381" "0" "c.3381G>A" "r.(?)" "p.(Gln1127=)" "" "0000612471" "00017559" "30" "126" "0" "126" "0" "c.126G>A" "r.(?)" "p.(Pro42=)" "" "0000647902" "00017559" "10" "2650" "0" "2650" "0" "c.2650G>A" "r.(?)" "p.(Val884Met)" "" "0000656487" "00017559" "50" "3347" "0" "3347" "0" "c.3347A>T" "r.(?)" "p.(Asp1116Val)" "" "0000656488" "00017559" "50" "1753" "0" "1753" "0" "c.1753C>A" "r.(?)" "p.(Pro585Thr)" "" "0000656489" "00017559" "50" "1716" "0" "1716" "0" "c.1716C>A" "r.(?)" "p.(Asn572Lys)" "" "0000685387" "00017559" "90" "3379" "0" "3379" "0" "c.3379C>T" "r.(?)" "p.(Gln1127*)" "" "0000713433" "00017559" "90" "832" "0" "834" "0" "c.832_834del" "r.(?)" "p.(Phe278del)" "" "0000722821" "00017559" "50" "3085" "0" "3085" "0" "c.3085A>G" "r.(?)" "p.(Ile1029Val)" "" "0000722822" "00017559" "30" "2619" "0" "2619" "0" "c.2619C>T" "r.(?)" "p.(Ala873=)" "" "0000722823" "00017559" "50" "2305" "0" "2305" "0" "c.2305T>C" "r.(?)" "p.(Trp769Arg)" "" "0000722824" "00017559" "30" "351" "0" "351" "0" "c.351G>A" "r.(?)" "p.(Leu117=)" "" "0000732494" "00017559" "50" "3546" "0" "3546" "0" "c.3546C>T" "r.(?)" "p.(His1182=)" "" "0000732514" "00017559" "90" "2556" "0" "2556" "0" "c.2556C>T" "r.(?)" "p.(Ala852=)" "" "0000734334" "00017559" "70" "3635" "0" "3635" "0" "c.3635C>T" "r.(?)" "p.(Thr1212Ile)" "" "0000734335" "00017559" "70" "787" "0" "787" "0" "c.787G>T" "r.(?)" "p.(Ala263Ser)" "" "0000734389" "00017559" "70" "2603" "0" "2603" "0" "c.2603T>C" "r.(?)" "p.(Ile868Thr)" "" "0000734390" "00017559" "70" "97" "0" "97" "0" "c.97A>G" "r.(?)" "p.(Lys33Glu)" "" "0000784133" "00017559" "70" "401" "0" "401" "0" "c.401G>A" "r.(?)" "p.(Arg134Gln)" "" "0000784141" "00017559" "70" "3451" "0" "3451" "0" "c.3451G>A" "r.(?)" "p.(Ala1151Thr)" "" "0000784144" "00017559" "70" "1037" "0" "1037" "0" "c.1037G>A" "r.(?)" "p.(Arg346His)" "" "0000784160" "00017559" "50" "3635" "0" "3635" "0" "c.3635C>T" "r.(?)" "p.(Thr1212Ile)" "" "0000784298" "00017559" "50" "3635" "0" "3635" "0" "c.3635C>T" "r.(?)" "p.(Thr1212Ile)" "" "0000784358" "00017559" "70" "418" "0" "418" "0" "c.418G>C" "r.(?)" "p.(Gly140Arg)" "" "0000784396" "00017559" "70" "1333" "0" "1333" "0" "c.1333G>C" "r.(?)" "p.(Asp445His)" "" "0000784442" "00017559" "50" "1171" "0" "1171" "0" "c.1171G>A" "r.(?)" "p.(Gly391Arg)" "" "0000784457" "00017559" "50" "3635" "0" "3635" "0" "c.3635C>T" "r.(?)" "p.(Thr1212Ile)" "" "0000784491" "00017559" "50" "3635" "0" "3635" "0" "c.3635C>T" "r.(?)" "p.(Thr1212Ile)" "" "0000784525" "00017559" "50" "3635" "0" "3635" "0" "c.3635C>T" "r.(?)" "p.(Thr1212Ile)" "" "0000784539" "00017559" "50" "2899" "0" "2899" "0" "c.2899G>A" "r.(?)" "p.(Gly967Ser)" "" "0000788424" "00017559" "50" "1093" "0" "1093" "0" "c.1093G>A" "r.(?)" "p.(Glu365Lys)" "1" "0000790458" "00017559" "50" "1631" "0" "1631" "0" "c.1631G>A" "r.(?)" "p.(Arg544His)" "" "0000790483" "00017559" "50" "332" "0" "332" "0" "c.332A>G" "r.(?)" "p.(Glu111Gly)" "" "0000790579" "00017559" "50" "412" "0" "412" "0" "c.412G>A" "r.(?)" "p.(Val138Ile)" "" "0000790587" "00017559" "50" "1216" "0" "1216" "0" "c.1216G>A" "r.(?)" "p.(Glu406Lys)" "" "0000790618" "00017559" "50" "685" "0" "685" "0" "c.685G>T" "r.(?)" "p.(Val229Phe)" "" "0000790619" "00017559" "50" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Pro100Leu)" "" "0000790634" "00017559" "50" "3062" "0" "3062" "0" "c.3062C>A" "r.(?)" "p.(Ser1021Tyr)" "" "0000791604" "00017559" "50" "1807" "0" "1807" "0" "c.1807G>A" "r.(?)" "p.(Gly603Ser)" "1" "0000796688" "00017559" "70" "2092" "0" "2092" "0" "c.2092C>A" "r.(?)" "p.(Arg698Ser)" "1" "0000796745" "00017559" "70" "2789" "0" "2789" "0" "c.2789T>C" "r.(?)" "p.(Ile930Thr)" "1" "0000796815" "00017559" "70" "490" "0" "490" "0" "c.490G>A" "r.(?)" "p.(Ala164Thr)" "1" "0000798515" "00017559" "10" "-13" "0" "-13" "0" "c.-13C>T" "r.(=)" "p.(=)" "1" "0000798516" "00017559" "30" "237" "0" "237" "0" "c.237G>A" "r.(=)" "p.(=)" "1" "0000798517" "00017559" "10" "837" "0" "837" "0" "c.837G>A" "r.(=)" "p.(=)" "1" "0000798518" "00017559" "10" "924" "0" "924" "0" "c.924G>A" "r.(=)" "p.(=)" "1" "0000798519" "00017559" "10" "1037" "0" "1037" "0" "c.1037G>A" "r.(?)" "p.(Arg346His)" "1" "0000798520" "00017559" "10" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "1" "0000798521" "00017559" "10" "3963" "0" "3963" "0" "c.*219C>T" "r.(=)" "p.(=)" "4" "0000798522" "00017559" "10" "2168" "0" "2168" "0" "c.2168C>T" "r.(?)" "p.(Pro723Leu)" "1" "0000798523" "00017559" "10" "2247" "0" "2247" "0" "c.2247C>T" "r.(=)" "p.(=)" "1" "0000798524" "00017559" "30" "3026" "0" "3026" "0" "c.3026A>T" "r.(?)" "p.(Asp1009Val)" "1" "0000798525" "00017559" "30" "3809" "0" "3809" "0" "c.*65C>T" "r.(=)" "p.(=)" "4" "0000798526" "00017559" "30" "3054" "36" "3054" "36" "c.3054+36C>T" "r.(=)" "p.(=)" "1i" "0000798527" "00017559" "30" "3245" "144" "3245" "144" "c.3245+144G>A" "r.(=)" "p.(=)" "2i" "0000798528" "00017559" "30" "3246" "-89" "3246" "-89" "c.3246-89A>G" "r.(=)" "p.(=)" "2i" "0000798529" "00017559" "30" "3376" "0" "3376" "0" "c.3376G>A" "r.(?)" "p.(Ala1126Thr)" "3" "0000804425" "00017559" "30" "3444" "0" "3444" "0" "c.3444C>T" "r.(?)" "p.(Ala1148=)" "" "0000804426" "00017559" "10" "1809" "0" "1809" "0" "c.1809C>T" "r.(?)" "p.(Gly603=)" "" "0000804427" "00017559" "30" "843" "0" "843" "0" "c.843C>T" "r.(?)" "p.(Pro281=)" "" "0000804428" "00017559" "30" "717" "0" "717" "0" "c.717C>T" "r.(?)" "p.(Ala239=)" "" "0000815451" "00017559" "50" "2626" "0" "2626" "0" "c.2626G>T" "r.(?)" "p.(Ala876Ser)" "" "0000815522" "00017559" "50" "2077" "0" "2077" "0" "c.2077G>A" "r.(?)" "p.(Val693Met)" "" "0000815552" "00017559" "50" "2317" "0" "2317" "0" "c.2317G>A" "r.(?)" "p.(Val773Met)" "" "0000815586" "00017559" "50" "2270" "0" "2270" "0" "c.2270T>G" "r.(?)" "p.(Val757Gly)" "" "0000816280" "00017559" "50" "2074" "0" "2074" "0" "c.2074G>T" "r.(?)" "p.(Glu692*)" "" "0000820431" "00017559" "70" "467" "0" "467" "0" "c.467G>C" "r.(?)" "p.(Trp156Ser)" "" "0000820913" "00017559" "70" "3050" "0" "3050" "0" "c.3050T>A" "r.(?)" "p.(Met1017Lys)" "" "0000821348" "00017559" "70" "832" "0" "834" "0" "c.832_834del" "r.(?)" "p.(Phe278del)" "" "0000824269" "00017559" "70" "832" "0" "834" "0" "c.832_834del" "r.(?)" "p.(Phe278del)" "" "0000829709" "00017559" "70" "249" "0" "249" "0" "c.249C>A" "r.(?)" "p.(Asn83Lys)" "" "0000829730" "00017559" "70" "1237" "0" "1237" "0" "c.1237C>T" "r.(?)" "p.(Pro413Ser)" "" "0000852491" "00017559" "30" "1806" "0" "1806" "0" "c.1806C>T" "r.(?)" "p.(His602=)" "" "0000861910" "00017559" "30" "2650" "0" "2650" "0" "c.2650G>A" "r.(?)" "p.(Val884Met)" "" "0000861911" "00017559" "50" "490" "0" "490" "0" "c.490G>T" "r.(?)" "p.(Ala164Ser)" "" "0000868730" "00017559" "70" "1530" "0" "1530" "0" "c.1530T>A" "r.(?)" "p.(Tyr510*)" "" "0000868731" "00017559" "70" "1530" "0" "1530" "0" "c.1530T>A" "r.(?)" "p.(Tyr510*)" "" "0000868732" "00017559" "70" "3454" "0" "3454" "0" "c.3454G>T" "r.(?)" "p.(Glu1152*)" "" "0000868733" "00017559" "70" "3454" "0" "3454" "0" "c.3454G>T" "r.(?)" "p.(Glu1152*)" "" "0000868739" "00017559" "70" "3238" "0" "3238" "0" "c.3238G>A" "r.(?)" "p.(Asp1080Asn)" "" "0000868740" "00017559" "70" "3238" "0" "3238" "0" "c.3238G>A" "r.(?)" "p.(Asp1080Asn)" "" "0000868741" "00017559" "70" "3238" "0" "3238" "0" "c.3238G>A" "r.(?)" "p.(Asp1080Asn)" "" "0000868742" "00017559" "70" "3238" "0" "3238" "0" "c.3238G>A" "r.(?)" "p.(Asp1080Asn)" "" "0000868743" "00017559" "70" "1216" "0" "1216" "0" "c.1216G>T" "r.(?)" "p.(Glu406*)" "" "0000889139" "00017559" "30" "2331" "0" "2331" "0" "c.2331G>A" "r.(?)" "p.(Ala777=)" "" "0000889140" "00017559" "10" "1296" "0" "1296" "0" "c.1296G>A" "r.(?)" "p.(Val432=)" "" "0000889141" "00017559" "30" "1044" "0" "1044" "0" "c.1044C>T" "r.(?)" "p.(Pro348=)" "" "0000905919" "00017559" "50" "2270" "0" "2270" "0" "c.2270T>G" "r.(?)" "p.(Val757Gly)" "" "0000949396" "00017559" "30" "3627" "0" "3627" "0" "c.3627G>T" "r.(?)" "p.(=)" "" "0000998301" "00017559" "30" "2278" "0" "2278" "0" "c.2278G>A" "r.(?)" "p.(Val760Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 108 "{{screeningid}}" "{{variantid}}" "0000000211" "0000790458" "0000059775" "0000090891" "0000100510" "0000162809" "0000144825" "0000784133" "0000145131" "0000784141" "0000156393" "0000358315" "0000234232" "0000476940" "0000234233" "0000476941" "0000234234" "0000476942" "0000234235" "0000476943" "0000234236" "0000476944" "0000234237" "0000476945" "0000234238" "0000476946" "0000234239" "0000476947" "0000234240" "0000476948" "0000234241" "0000476949" "0000234242" "0000476950" "0000234243" "0000476951" "0000234244" "0000476952" "0000234245" "0000476953" "0000234246" "0000476954" "0000234247" "0000476955" "0000234248" "0000476956" "0000234249" "0000476957" "0000234250" "0000476958" "0000234251" "0000476959" "0000234252" "0000476960" "0000234253" "0000476961" "0000234254" "0000476962" "0000234255" "0000476963" "0000234256" "0000476964" "0000234257" "0000476965" "0000234258" "0000476966" "0000234259" "0000476967" "0000234260" "0000476968" "0000234261" "0000476969" "0000234262" "0000476970" "0000234263" "0000476971" "0000234264" "0000476972" "0000234265" "0000476973" "0000234865" "0000477573" "0000234866" "0000477574" "0000291213" "0000647902" "0000310476" "0000685387" "0000329310" "0000713433" "0000334585" "0000732494" "0000334590" "0000732514" "0000335640" "0000734334" "0000335640" "0000734389" "0000335641" "0000734335" "0000335641" "0000734390" "0000362652" "0000784160" "0000369586" "0000784144" "0000373865" "0000784358" "0000373871" "0000784396" "0000373901" "0000784491" "0000373914" "0000784457" "0000373927" "0000784525" "0000373929" "0000784539" "0000373967" "0000784442" "0000373985" "0000784298" "0000376617" "0000788424" "0000377959" "0000790483" "0000377981" "0000790579" "0000377986" "0000790587" "0000377993" "0000790618" "0000377994" "0000790619" "0000377999" "0000790634" "0000378721" "0000791604" "0000382819" "0000796688" "0000382848" "0000796745" "0000382874" "0000796815" "0000384084" "0000798515" "0000384085" "0000798516" "0000384086" "0000798517" "0000384087" "0000798518" "0000384088" "0000798519" "0000384089" "0000798520" "0000384090" "0000798521" "0000384090" "0000798522" "0000384091" "0000798523" "0000384092" "0000798524" "0000384092" "0000798525" "0000384093" "0000798526" "0000384094" "0000798527" "0000384095" "0000798528" "0000384096" "0000798529" "0000387404" "0000815451" "0000387418" "0000815586" "0000387490" "0000815522" "0000387526" "0000815552" "0000388122" "0000816280" "0000391086" "0000820431" "0000391086" "0000820913" "0000391599" "0000821348" "0000393507" "0000824269" "0000397661" "0000829709" "0000397661" "0000829730" "0000411563" "0000868730" "0000411564" "0000868731" "0000411565" "0000868732" "0000411566" "0000868733" "0000411568" "0000868739" "0000411569" "0000868740" "0000411570" "0000868741" "0000411571" "0000868742" "0000411572" "0000868743" "0000428244" "0000905919"