### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PRPF8) # 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}}" "PRPF8" "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)" "17" "p13.3" "unknown" "NG_009118.1" "UD_132085424939" "" "https://www.LOVD.nl/PRPF8" "" "1" "17340" "10594" "607300" "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" "https://databases.lovd.nl/shared/refseq/PRPF8_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-04 00:00:00" "00006" "2024-05-27 08:56:20" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00016899" "PRPF8" "PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)" "001" "NM_006445.3" "" "NP_006436.3" "" "" "" "-114" "7181" "7008" "1588176" "1553923" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02282" "RP13" "retinitis pigmentosa, type 13 (RP13)" "AD" "600059" "" "" "" "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" "04250" "-" "retinal degeneration" "" "" "" "" "" "00006" "2015-05-04 22:12:01" "" "" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PRPF8" "00112" "PRPF8" "02282" ## Individuals ## Do not remove or alter this header ## ## Count = 295 "{{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}}" "00001806" "" "" "" "1" "" "00102" "" "" "" "" "(United States)" "" "0" "" "" "" "" "00143966" "" "" "" "1" "" "01780" "{PMID:Xu 2014:24938718}" "" "M" "yes" "China" "" "0" "" "" "Chinese" "" "00207592" "" "" "" "3" "" "01244" "" "" "F" "" "" "" "0" "" "" "" "" "00207606" "" "" "" "1" "" "01244" "" "" "F" "" "" "" "0" "" "" "" "" "00233442" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233443" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233444" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233445" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233446" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233447" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233448" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233449" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233450" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233451" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233452" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233453" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233454" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233455" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233456" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233457" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233458" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233459" "" "" "" "8" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233460" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233461" "" "" "" "129" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233462" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233796" "" "" "" "7" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00291637" "" "" "" "19" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00309313" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309314" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00320014" "" "" "" "1" "" "00008" "{PMID:Martínez-Gimeno 2003:12714658}" "" "" "" "" "" "0" "" "" "Spanish" "" "00320016" "" "" "" "1" "" "00008" "{PMID:Martínez-Gimeno 2003:12714658}" "" "" "" "" "" "0" "" "" "Spanish" "" "00320017" "" "" "" "1" "" "00008" "{PMID:Martínez-Gimeno 2003:12714658}" "" "" "" "" "" "0" "" "" "Spanish" "" "00320018" "" "" "" "1" "" "00008" "{PMID:Martínez-Gimeno 2003:12714658}" "" "" "" "" "" "0" "" "" "Spanish" "" "00320019" "" "" "" "1" "" "00008" "{PMID:Martínez-Gimeno 2003:12714658}" "" "" "" "" "" "0" "" "" "Spanish" "" "00320020" "" "" "" "1" "" "00008" "{PMID:Martínez-Gimeno 2003:12714658}" "" "" "" "" "" "0" "" "" "Spanish" "" "00320021" "" "" "" "1" "" "00008" "{PMID:Martínez-Gimeno 2003:12714658}" "" "" "" "" "" "0" "" "" "Spanish" "" "00320022" "" "" "" "1" "" "00008" "{PMID:Martínez-Gimeno 2003:12714658}" "" "" "" "" "" "0" "" "" "Spanish" "" "00320023" "" "" "" "1" "" "00008" "{PMID:Martínez-Gimeno 2003:12714658}" "" "" "" "" "" "0" "" "" "Spanish" "" "00320024" "" "" "" "1" "" "00008" "{PMID:Martínez-Gimeno 2003:12714658}" "" "" "" "" "" "0" "" "" "Spanish" "" "00320025" "" "" "" "1" "" "00008" "{PMID:Martínez-Gimeno 2003:12714658}" "" "" "" "" "" "0" "" "" "Spanish" "" "00320026" "" "" "" "1" "" "00008" "{PMID:Martínez-Gimeno 2003:12714658}" "" "" "" "" "" "0" "" "" "Spanish" "" "00320027" "" "" "" "1" "" "00008" "{PMID:Martínez-Gimeno 2003:12714658}" "" "" "" "" "" "0" "" "" "Spanish" "" "00320028" "" "" "" "1" "" "00008" "{PMID:Martínez-Gimeno 2003:12714658}" "" "" "" "" "" "0" "" "" "Spanish" "" "00320029" "" "" "" "1" "" "00008" "{PMID:Martínez-Gimeno 2003:12714658}" "" "" "" "" "" "0" "" "" "Spanish" "" "00320030" "" "" "" "1" "" "00008" "{PMID:Martínez-Gimeno 2003:12714658}" "" "" "" "" "" "0" "" "" "Spanish" "" "00325498" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "family" "" "" "Mexico" "" "0" "" "" "" "3650" "00326684" "" "" "" "1" "" "00008" "{PMID:Ziviello 2005:15994872}" "" "" "" "Italy" "" "0" "" "" "" "" "00328332" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "W000359" "00328409" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690487" "00328410" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "690929" "00332501" "" "" "" "1" "" "00000" "{PMID:Avela 2018:29068140}" "" "" "" "Finland" "" "0" "" "" "" "Pat26" "00333353" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat9" "00333357" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat6" "00333437" "" "" "00333436" "1" "" "00000" "{PMID:Jones 2017:28761320}" "relative" "F" "" "United States" "" "0" "" "" "" "FAM2-10228" "00333438" "" "" "00333436" "1" "" "00000" "{PMID:Jones 2017:28761320}" "relative" "F" "" "United States" "" "0" "" "" "" "FAM2-10524" "00333579" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "M" "" "(United States)" "" "0" "" "" "" "281" "00333852" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "56" "00333977" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "441" "00335218" "" "" "" "2" "" "00000" "{PMID:Riera 2017:28181551}" "family, several affected" "" "" "Spain" "" "0" "" "" "" "Fi15/05" "00335298" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "family" "" "" "Spain" "" "0" "" "" "" "Pat7" "00335309" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "patient" "" "" "Spain" "" "0" "" "" "" "Pat104" "00335414" "" "" "" "1" "" "00000" "{PMID:Huang 2018:29641573}" "" "" "" "" "" "0" "" "" "" "RP011" "00335567" "" "" "" "1" "" "00000" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Belgium" "" "0" "" "" "" "FAM_025" "00335568" "" "" "" "1" "" "00000" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Belgium" "" "0" "" "" "" "FAM_026" "00335569" "" "" "" "1" "" "00000" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Belgium" "" "0" "" "" "" "FAM_027" "00335570" "" "" "" "1" "" "00000" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Belgium" "" "0" "" "" "" "FAM_028" "00335571" "" "" "" "1" "" "00000" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Belgium" "" "0" "" "" "" "FAM_029" "00335648" "" "" "" "2" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" "" "00335649" "" "" "" "2" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" "" "00335650" "" "" "" "2" "" "00008" "{PMID:Sullivan 2006:16799052}" "2 families" "" "" "United States" "" "0" "" "" "" "" "00335651" "" "" "" "1" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" "" "00335652" "" "" "" "1" "" "00008" "{PMID:Sullivan 2006:16799052}" "1 family" "" "" "United States" "" "0" "" "" "" "" "00335732" "" "" "" "1" "" "00000" "{PMID:Ezquerra-Inchausti 2017:28045043}" "" "" "" "Spain" "" "0" "" "" "" "RP90" "00335733" "" "" "" "1" "" "00000" "{PMID:Ezquerra-Inchausti 2017:28045043}" "" "" "" "Spain" "" "0" "" "" "" "RP113" "00358733" "" "" "" "1" "" "00000" "{PMID:Carrigan 2016:27624628}" "" "" "" "Ireland" "" "0" "" "" "" "" "00358796" "" "" "" "1" "" "00000" "{PMID:Zhang 2016:27596865}" "simplex case" "F" "" "United States" "" "0" "" "" "Hispanic" "BLM045" "00358929" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27391102}" "" "" "" "Switzerland" "" "0" "" "" "" "Case23880" "00359106" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "12003878" "00359158" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "12002571" "00359167" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "12011157" "00359181" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13008349" "00359319" "" "" "" "1" "" "00000" "{PMID:Khan 2017:27160483}" "see paper" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "3083" "00359371" "" "" "" "1" "" "00000" "{PMID:Bravo-Gil 2016:27032803}" "see paper" "" "" "Spain" "" "0" "" "" "" "359" "00362262" "" "" "" "1" "" "02404" "{PMID:Bahena 2021:34148116}" "" "F" "yes" "Iran" "" "0" "" "" "" "Pat53" "00363389" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM693" "00363509" "" "" "" "1" "" "00000" "{PMID:Yang 2015:26496393}" "family" "F" "" "China" "" "0" "" "" "Han" "RP128" "00372636" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP335" "00372637" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP353" "00372638" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "M" "" "China" "" "0" "" "" "" "RP305" "00373482" "" "" "" "2" "" "00000" "{PMID:Fernandez-San Jose 2015:25698705}" "family, 2 affected" "" "" "Spain" "" "0" "" "" "" "RP1187" "00373487" "" "" "" "2" "" "00000" "{PMID:Fernandez-San Jose 2015:25698705}" "family, 2 affected" "" "" "Spain" "" "0" "" "" "" "RP1649" "00373934" "" "" "" "1" "" "00000" "{PMID:Consugar 2015:25412400}" "" "" "" "United States" "" "0" "" "" "" "OGI-570-1170" "00376295" "" "" "" "1" "" "00000" "{PMID:Avela 2019:18487375}" "" "" "" "Finland" "" "0" "" "" "Finnish" "" "00376774" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "38" "00377190" "" "" "" "1" "" "00000" "Tracewska 2021, MolVis in press" "proband" "F" "" "Poland" "" "0" "yes" "" "Slavic" "263" "00377413" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "?" "00377414" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "?" "00377415" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "?" "00377726" "" "" "" "1" "" "00000" "{PMID:Bowne 2011:20861475}" "" "" "no" "" "" "0" "" "" "white" "" "00377814" "" "" "" "1" "" "00000" "{PMID:Gonzalez Rodriguez 2010:20494911}" "" "" "" "Mexico" "" "0" "" "" "Mexican-mestizo" "" "00377815" "" "" "" "1" "" "00000" "{PMID:Avila Fernandez 2010:21151602}" "" "" "" "" "" "0" "" "" "Spanish" "" "00377816" "" "" "" "1" "" "00000" "{PMID:Avila Fernandez 2010:21151602}" "" "" "" "" "" "0" "" "" "Spanish" "" "00377817" "" "" "" "1" "" "00000" "{PMID:Avila Fernandez 2010:21151602}" "" "" "" "" "" "0" "" "" "Spanish" "" "00377947" "" "" "" "1" "" "00000" "{PMID:_Audo-2012:22277662}" "" "" "" "" "" "0" "" "" "" "" "00377948" "" "" "" "1" "" "00000" "{PMID:_Audo-2012:22277662}" "" "" "" "" "" "0" "" "" "" "" "00377949" "" "" "" "1" "" "00000" "{PMID:_Audo-2012:22277662}" "" "" "" "" "" "0" "" "" "" "" "00379419" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379420" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" "" "00379556" "" "" "" "1" "" "00000" "{PMID:O\'Sullivan-2012:22581970}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00379863" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "F" "?" "China" "" "0" "" "" "Han Chinese" "2016062801" "00379864" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "F" "?" "China" "" "0" "" "" "Han Chinese" "2016111421" "00380175" "" "" "" "1" "" "00000" "{PMID:Ezquerra-Inchausti 2018:30337596}" "Family RP148, III:2" "?" "no" "Spain" "" "0" "" "" "" "III:2" "00381014" "" "" "" "1" "" "00000" "{PMID:Schorderet-2013:23484092}" "" "" "" "Switzerland" "" "0" "" "" "Swiss, Algerian or Tunisian" "" "00381714" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "no" "" "" "0" "" "" "" "" "00381775" "" "" "" "1" "" "00000" "{PMID:Sullivan-2013:23950152}" "" "" "no" "" "" "0" "" "" "" "" "00381776" "" "" "" "1" "" "00000" "{PMID:Sullivan-2013:23950152}" "" "" "no" "" "" "0" "" "" "" "" "00381777" "" "" "" "1" "" "00000" "{PMID:Sullivan-2013:23950152}" "" "" "no" "" "" "0" "" "" "" "" "00381806" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "" "" "" "0" "" "" "" "" "00381807" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "" "" "" "0" "" "" "" "" "00381915" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:30543658}" "" "F" "" "Germany" "" "0" "" "" "" "65" "00382582" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "444" "00383453" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "M" "" "" "" "0" "" "" "" "" "00385009" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "19254" "00386287" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-AP, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-461" "00386561" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "001-430" "00386586" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "003-334" "00386792" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2946_004531" "00386803" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2960_004545" "00386838" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI665_001342" "00386991" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "M" "" "(United States)" "" "0" "" "" "white" "17" "00386992" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "F" "" "(United States)" "" "0" "" "" "Asian" "18" "00386993" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "F" "" "(United States)" "" "0" "" "" "Hispanic" "19" "00386994" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "M" "" "(United States)" "" "0" "" "" "white" "20" "00389331" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 221, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "615" "00389599" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 368, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "883" "00389600" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 368, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "884" "00389661" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 417, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "945" "00389667" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 423, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "951" "00389668" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 423, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "952" "00389681" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 431, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "965" "00389699" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 446, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "983" "00389751" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 599, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1035" "00389970" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 1038, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1254" "00389979" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 1060, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1263" "00390353" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000359" "00392137" "" "" "" "1" "" "00000" "{PMID:Rodriguez Munoz 2021:33411470}" "family ID fRPN-194, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-432" "00392162" "" "" "" "1" "" "00000" "{PMID:Rodriguez Munoz 2021:33411470}" "family ID fRPN-194, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-432" "00392271" "" "" "" "1" "" "00000" "{PMID:Bell 2021:33494148}" "" "F" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "24" "00392317" "" "" "" "1" "" "00000" "{PMID:Xiao-2021:33598457}" "" "M" "" "China" "" "0" "" "" "" "10215" "00392338" "" "" "" "1" "" "00000" "{PMID:Xiao-2021:33598457}" "" "M" "" "China" "" "0" "" "" "" "191422" "00392358" "" "" "" "1" "" "00000" "{PMID:Xiao-2021:33598457}" "" "M" "" "China" "" "0" "" "" "" "19444" "00392369" "" "" "" "1" "" "00000" "{PMID:Xiao-2021:33598457}" "" "F" "" "China" "" "0" "" "" "" "19616" "00392388" "" "" "" "1" "" "00000" "{PMID:Xiao-2021:33598457}" "" "F" "" "China" "" "0" "" "" "" "19917" "00392592" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "49" "00392635" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "115" "00393507" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393581" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00394335" "" "" "" "1" "" "00000" "{PMID:Thorsteinsson 2021:33851411}" "" "?" "" "Iceland" "" "0" "" "" "" "RP17" "00394492" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394493" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394494" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394495" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394496" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394497" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00394498" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394499" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "no" "" "" "0" "" "" "" "" "00395853" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F020" "00395932" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F292" "00396485" "" "" "" "1" "" "00000" "{PMID:Dockery 2017:29099798}" "no patient numbers in the paper, consecutive numbers given" "?" "" "Ireland" "" "0" "" "" "" "18" "00396536" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00396560" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00396634" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00396642" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00408422" "" "" "" "1" "" "00000" "{PMID:Avela 2019:31087526}" "" "?" "" "Finland" "" "0" "" "" "" "14" "00411618" "" "" "" "1" "" "00000" "{PMID:To 2004:15126168}" "no numbering in the original paper; post-mortem, assumed same mutation as an affected daughter" "F" "" "" "63y" "0" "" "" "" "?" "00411619" "" "" "" "1" "" "00000" "{PMID:To 2004:15126168}" "no numbering in the original paper; affected daughter of 1" "F" "" "" "" "0" "" "" "" "?" "00416303" "" "" "" "1" "" "00000" "De Erkenez 2002" "" "" "" "" "" "0" "" "" "" "?" "00416304" "" "" "" "1" "" "00000" "De Erkenez 2002" "" "" "" "" "" "0" "" "" "" "?" "00416305" "" "" "" "1" "" "00000" "De Erkenez 2002" "" "" "" "" "" "0" "" "" "" "?" "00416306" "" "" "" "1" "" "00000" "De Erkenez 2002" "Family 1, proband" "" "" "" "" "0" "" "" "" "?" "00416307" "" "" "" "1" "" "00000" "De Erkenez 2002" "Family 1, relative 1" "" "" "" "" "0" "" "" "" "?" "00416308" "" "" "" "1" "" "00000" "De Erkenez 2002" "Family 1, relative 2" "" "" "" "" "0" "" "" "" "?" "00416309" "" "" "" "1" "" "00000" "De Erkenez 2002" "Family 1, relative 3" "" "" "" "" "0" "" "" "" "?" "00416310" "" "" "" "1" "" "00000" "De Erkenez 2002" "Family 1, relative 4" "" "" "" "" "0" "" "" "" "?" "00416311" "" "" "" "1" "" "00000" "De Erkenez 2002" "Family 1, relative 5" "" "" "" "" "0" "" "" "" "?" "00416312" "" "" "" "1" "" "00000" "De Erkenez 2002" "Family 1, relative 6" "" "" "" "" "0" "" "" "" "?" "00416313" "" "" "" "1" "" "00000" "De Erkenez 2002" "Family 1, relative 7" "" "" "" "" "0" "" "" "" "?" "00416314" "" "" "" "1" "" "00000" "De Erkenez 2002" "Family 1, relative 8" "" "" "" "" "0" "" "" "" "?" "00416315" "" "" "" "1" "" "00000" "De Erkenez 2002" "Family 1, relative 9" "" "" "" "" "0" "" "" "" "?" "00416316" "" "" "" "1" "" "00000" "De Erkenez 2002" "Family 1, relative 10" "" "" "" "" "0" "" "" "" "?" "00416317" "" "" "" "1" "" "00000" "De Erkenez 2002" "Family 1, relative 11" "" "" "" "" "0" "" "" "" "?" "00416318" "" "" "" "1" "" "00000" "De Erkenez 2002" "Family 1, relative 12, unaffected/preclinical" "" "" "" "" "0" "" "" "" "?" "00416323" "" "" "" "1" "" "00000" "{PMID:McKie 2001:11468273}" "" "F" "" "" "" "0" "" "" "" "1" "00416324" "" "" "" "1" "" "00000" "{PMID:McKie 2001:11468273}" "" "F" "" "" "" "0" "" "" "" "3" "00416325" "" "" "" "1" "" "00000" "{PMID:McKie 2001:11468273}" "" "F" "" "" "" "0" "" "" "" "4" "00416326" "" "" "" "1" "" "00000" "{PMID:McKie 2001:11468273}" "" "F" "" "" "" "0" "" "" "" "6" "00416327" "" "" "" "1" "" "00000" "{PMID:McKie 2001:11468273}" "" "M" "" "" "" "0" "" "" "" "10" "00416328" "" "" "" "1" "" "00000" "{PMID:McKie 2001:11468273}" "" "F" "" "" "" "0" "" "" "" "2" "00416329" "" "" "" "1" "" "00000" "{PMID:McKie 2001:11468273}" "" "F" "" "" "" "0" "" "" "" "5" "00416330" "" "" "" "1" "" "00000" "{PMID:McKie 2001:11468273}" "" "F" "" "" "" "0" "" "" "" "SA family_I:2" "00416331" "" "" "" "1" "" "00000" "{PMID:McKie 2001:11468273}" "" "F" "" "" "" "0" "" "" "" "SA family_II:2" "00416332" "" "" "" "1" "" "00000" "{PMID:McKie 2001:11468273}" "" "F" "" "" "" "0" "" "" "" "SA family_IV:1" "00416333" "" "" "" "1" "" "00000" "{PMID:McKie 2001:11468273}" "" "F" "" "" "" "0" "" "" "" "SA family_V:1" "00416334" "" "" "" "1" "" "00000" "{PMID:McKie 2001:11468273}" "" "F" "" "" "" "0" "" "" "" "SA family_V:2" "00416335" "" "" "" "1" "" "00000" "{PMID:McKie 2001:11468273}" "" "" "" "" "" "0" "" "" "" "NL family" "00416336" "" "" "" "1" "" "00000" "{PMID:McKie 2001:11468273}" "" "" "" "" "" "0" "" "" "" "614 (UK)" "00416337" "" "" "" "1" "" "00000" "{PMID:McKie 2001:11468273}" "" "" "" "" "" "0" "" "" "" "161 (UK)" "00416338" "" "" "" "1" "" "00000" "{PMID:McKie 2001:11468273}" "" "" "" "" "" "0" "" "" "" "162 (UK)" "00416339" "" "" "" "1" "" "00000" "{PMID:McKie 2001:11468273}" "" "" "" "" "" "0" "" "" "" "622 (UK)" "00416340" "" "" "" "1" "" "00000" "{PMID:McKie 2001:11468273}" "" "" "" "" "" "0" "" "" "" "189 (UK)" "00416341" "" "" "" "1" "" "00000" "{PMID:McKie 2001:11468273}" "" "" "" "" "" "0" "" "" "" "690 (UK)" "00416342" "" "" "" "1" "" "00000" "{PMID:Kondo 2003:12601059}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "II-2" "00416343" "" "" "" "1" "" "00000" "{PMID:Kondo 2003:12601059}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "II-3" "00416344" "" "" "" "1" "" "00000" "{PMID:Kondo 2003:12601059}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "II-4" "00416345" "" "" "" "1" "" "00000" "{PMID:Kondo 2003:12601059}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "III:2" "00416346" "" "" "" "1" "" "00000" "{PMID:Kondo 2003:12601059}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "III:3" "00416347" "" "" "" "1" "" "00000" "{PMID:Testa 2006:17061239}" "" "F" "" "" "" "0" "" "" "" "II-2" "00416348" "" "" "" "1" "" "00000" "{PMID:Testa 2006:17061239}" "" "F" "" "" "" "0" "" "" "" "III-3" "00416349" "" "" "" "1" "" "00000" "{PMID:Testa 2006:17061239}" "" "F" "" "" "" "0" "" "" "" "III-4" "00416350" "" "" "" "1" "" "00000" "{PMID:Testa 2006:17061239}" "" "F" "" "" "" "0" "" "" "" "III-6" "00416351" "" "" "" "1" "" "00000" "{PMID:Testa 2006:17061239}" "" "M" "" "" "" "0" "" "" "" "IV-5" "00416352" "" "" "" "1" "" "00000" "{PMID:Testa 2006:17061239}" "" "F" "" "" "" "0" "" "" "" "IV-6" "00416353" "" "" "" "1" "" "00000" "{PMID:Walia 2008:18695108}" "" "F" "" "United States" "" "0" "" "" "black" "II:5" "00416354" "" "" "" "1" "" "00000" "{PMID:Walia 2008:18695108}" "" "F" "" "United States" "" "0" "" "" "black" "III:6" "00416355" "" "" "" "1" "" "00000" "{PMID:Walia 2008:18695108}" "" "F" "" "United States" "" "0" "" "" "black" "III:7" "00416356" "" "" "" "1" "" "00000" "{PMID:Walia 2008:18695108}" "" "F" "" "United States" "" "0" "" "" "black" "III:10" "00416357" "" "" "" "1" "" "00000" "{PMID:Walia 2008:18695108}" "" "F" "" "United States" "" "0" "" "" "black" "III:11" "00416358" "" "" "" "1" "" "00000" "{PMID:Walia 2008:18695108}" "" "F" "" "United States" "" "0" "" "" "black" "III:12" "00416359" "" "" "" "1" "" "00000" "{PMID:Walia 2008:18695108}" "" "M" "" "United States" "" "0" "" "" "black" "IV:8" "00416360" "" "" "" "1" "" "00000" "{PMID:Walia 2008:18695108}" "" "M" "" "United States" "" "0" "" "" "black" "IV:12" "00416361" "" "" "" "1" "" "00000" "{PMID:Walia 2008:18695108}" "" "M" "" "United States" "" "0" "" "" "black" "IV:16" "00416362" "" "" "" "1" "" "00000" "{PMID:Walia 2008:18695108}" "" "F" "" "United States" "" "0" "" "" "black" "IV:19" "00416363" "" "" "" "1" "" "00000" "{PMID:Walia 2008:18695108}" "" "F" "" "United States" "" "0" "" "" "black" "IV:20" "00416364" "" "" "" "1" "" "00000" "{PMID:Walia 2008:18695108}" "" "F" "" "United States" "" "0" "" "" "black" "IV:21" "00416365" "" "" "" "1" "" "00000" "{PMID:Walia 2008:18695108}" "" "M" "" "United States" "" "0" "" "" "black" "IV:25" "00416366" "" "" "" "1" "" "00000" "{PMID:Walia 2008:18695108}" "" "M" "" "United States" "" "0" "" "" "black" "V:6" "00416367" "" "" "" "1" "" "00000" "{PMID:Towns 2010:20232351}" "" "M" "" "" "" "0" "" "" "British" "De novo case" "00416368" "" "" "" "1" "" "00000" "{PMID:Towns 2010:20232351}" "" "M" "" "" "" "0" "" "" "British" "MEH-GC16993 proband\'s father" "00416369" "" "" "" "1" "" "00000" "{PMID:Towns 2010:20232351}" "" "M" "" "" "" "0" "" "" "British" "MEH-GC16993 proband" "00416370" "" "" "" "1" "" "00000" "{PMID:Towns 2010:20232351}" "" "M" "" "" "" "0" "" "" "British" "MEH-GC16993 proband\'s son" "00416371" "" "" "" "1" "" "00000" "{PMID:Towns 2010:20232351}" "" "M" "" "" "" "0" "" "" "British" "MEH-GC16352" "00416372" "" "" "" "1" "" "00000" "{PMID:Towns 2010:20232351}" "" "M" "" "" "" "0" "" "" "British" "MEH-GC171" "00416373" "" "" "" "1" "" "00000" "{PMID:Korir 2014:24969741}" "study for splicing quantitative trait loci – sQTLs testing in patient\'s cel" "?" "" "" "" "0" "" "" "" "?" "00416374" "" "" "" "1" "" "00000" "{PMID:Korir 2014:24969741}" "study for splicing quantitative trait loci – sQTLs testing in patient\'s cel" "?" "" "" "" "0" "" "" "" "?" "00416375" "" "" "" "1" "" "00000" "{PMID:Korir 2014:24969741}" "study for splicing quantitative trait loci – sQTLs testing in patient\'s cel" "?" "" "" "" "0" "" "" "" "?" "00416376" "" "" "" "1" "" "00000" "{PMID:Korir 2014:24969741}" "study for splicing quantitative trait loci – sQTLs testing in patient\'s cel" "?" "" "" "" "0" "" "" "" "?" "00416377" "" "" "" "1" "" "00000" "{PMID:Korir 2014:24969741}" "study for splicing quantitative trait loci – sQTLs testing in patient\'s cel" "?" "" "" "" "0" "" "" "" "?" "00416380" "" "" "" "1" "" "00000" "{PMID:Escher 2018:29087248}" "proband" "M" "" "" "" "0" "" "" "Ashkenazi and Sepharade" "II.1" "00416381" "" "" "" "1" "" "00000" "{PMID:Escher 2018:29087248}" "proband\'s daughter" "F" "" "" "" "0" "" "" "Ashkenazi and Sepharade" "III.1" "00416382" "" "" "" "1" "" "00000" "{PMID:Micheal 2018:28707069}" "family A, proband" "M" "" "Netherlands" "" "0" "" "" "Dutch" "A_II:3" "00416383" "" "" "" "1" "" "00000" "{PMID:Micheal 2018:28707069}" "family A, proband\'s brother 2" "M" "" "Netherlands" "" "0" "" "" "Dutch" "A_II:4" "00416384" "" "" "" "1" "" "00000" "{PMID:Micheal 2018:28707069}" "family A, proband\'s brother 3" "M" "" "Netherlands" "" "0" "" "" "Dutch" "A_II:5" "00416385" "" "" "" "1" "" "00000" "{PMID:Micheal 2018:28707069}" "family A, proband\'s brother 4" "M" "" "Netherlands" "" "0" "" "" "Dutch" "A_II:7" "00416386" "" "" "" "1" "" "00000" "{PMID:Micheal 2018:28707069}" "family B, proband" "F" "" "Pakistan" "" "0" "" "" "Pakistani" "B_II:2" "00416387" "" "" "" "1" "" "00000" "{PMID:Micheal 2018:28707069}" "family B, proband\'s mother" "F" "" "Pakistan" "" "0" "" "" "Pakistani" "B_I:2" "00416388" "" "" "" "1" "" "00000" "{PMID:Micheal 2018:28707069}" "family B, proband\'s brother 2" "M" "" "Pakistan" "" "0" "" "" "Pakistani" "B_II:3" "00416389" "" "" "" "1" "" "00000" "{PMID:Micheal 2018:28707069}" "family B, proband\'s sister 1" "F" "" "Pakistan" "" "0" "" "" "Pakistani" "B_II:4" "00416390" "" "" "" "1" "" "00000" "{PMID:Micheal 2018:28707069}" "family B, proband\'s brother 3" "M" "" "Pakistan" "" "0" "" "" "Pakistani" "B_II:5" "00416391" "" "" "" "1" "" "00000" "{PMID:Micheal 2018:28707069}" "family B, proband\'s sister 2" "F" "" "Pakistan" "" "0" "" "" "Pakistani" "B_II:6" "00416392" "" "" "" "1" "" "00000" "{PMID:Micheal 2018:28707069}" "family C, proband" "F" "" "Pakistan" "" "0" "" "" "Pakistani" "C_III:1" "00416393" "" "" "" "1" "" "00000" "{PMID:Micheal 2018:28707069}" "family C, proband\'s cousin" "F" "" "Pakistan" "" "0" "" "" "Pakistani" "C_III:2" "00420404" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F020" "00420579" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F292" "00420790" "" "" "" "1" "" "00000" "{PMID:Wang 2022:35138024}" "family 8543, individual I:2; 2-generation family, 2 affected" "F" "" "China" "" "0" "" "" "Chinese" "8543_I:2" "00420791" "" "" "" "1" "" "00000" "{PMID:Wang 2022:35138024}" "family 8543, individual II:1; 2-generation family, 2 affected" "F" "" "China" "" "0" "" "" "Chinese" "8543_II:1" "00420792" "" "" "" "1" "" "00000" "{PMID:Wang 2022:35138024}" "family 7437, individual II:1; parents healthy, untested" "F" "" "China" "" "0" "" "" "Chinese" "7437_II:1" "00420793" "" "" "" "1" "" "00000" "{PMID:Wang 2022:35138024}" "family 20339, individual II:1; parents healthy, untested" "F" "" "China" "" "0" "" "" "Chinese" "20339_II:1" "00420794" "" "" "" "1" "" "00000" "{PMID:Wang 2022:35138024}" "family 20458, individual II:2; parents healthy, untested" "M" "" "China" "" "0" "" "" "Chinese" "20458_II:2" "00420795" "" "" "" "1" "" "00000" "{PMID:Wang 2022:35138024}" "family 15134, individual I:2; 2-generation family, 2 affected" "M" "" "China" "" "0" "" "" "Chinese" "15134_I:2" "00420796" "" "" "" "1" "" "00000" "{PMID:Wang 2022:35138024}" "family 15134, individual II:1; 2-generation family, 2 affected" "M" "" "China" "" "0" "" "" "Chinese" "15134_II:1" "00420797" "" "" "" "1" "" "00000" "{PMID:Wang 2022:35138024}" "family 21441, individual II:1; parents healthy, untested" "F" "" "China" "" "0" "" "" "Chinese" "21441_II:1" "00420798" "" "" "" "1" "" "00000" "{PMID:Wang 2022:35138024}" "family 5875, individual II:1; parents healthy, untested" "M" "" "China" "" "0" "" "" "Chinese" "5875_II:1" "00426932" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 37, individual 43" "F" "" "" "" "0" "" "" "" "37_43" "00429498" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00429546" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00429761" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00429812" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00429951" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00446928" "" "" "" "4" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, >3 affected" "F" "" "Germany" "" "0" "" "" "" "ADRP-221-1" "00446929" "" "" "00446928" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "relative" "M" "" "Germany" "" "0" "" "" "" "ADRP-221-2" "00446949" "" "" "" "4" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, >3 affected" "F" "" "Germany" "" "0" "" "" "" "ADRP-496" "00447153" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "MDS-383" "00447288" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "SRP-1164" "00447317" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "SRP-1247" "00447321" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-1267" "00447411" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "USHI-88" "00447489" "" "" "" "4" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, >3 affected" "M" "" "Germany" "" "0" "" "" "" "ADRP-466" "00447502" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "ARRP-427" "00450434" "" "" "" "1" "" "04695" "" "" "F" "no" "China" ">26y" "0" "" "" "Asia" "patient" "00451567" "" "" "" "6" "" "04543" "{PMID:Basharat 2024:38815792}" "6-generation family, 6 affected (6M)" "M" "yes" "Pakistan" "" "0" "" "" "" "FamLPatVI1" "00451568" "" "" "00451567" "1" "" "04543" "{PMID:Basharat 2024:38815792}" "brother" "M" "yes" "Pakistan" "" "0" "" "" "" "FamLPatVI3" "00451569" "" "" "00451567" "1" "" "04543" "{PMID:Basharat 2024:38815792}" "brother" "M" "yes" "Pakistan" "" "0" "" "" "" "FamLPatVI4" "00451570" "" "" "00451567" "1" "" "04543" "{PMID:Basharat 2024:38815792}" "nephew" "M" "yes" "Pakistan" "" "0" "" "" "" "FamLPatV1" "00451571" "" "" "00451567" "1" "" "04543" "{PMID:Basharat 2024:38815792}" "nephew" "M" "yes" "Pakistan" "" "0" "" "" "" "FamLPatV4" "00451572" "" "" "00451567" "1" "" "04543" "{PMID:Basharat 2024:38815792}" "nephew" "M" "yes" "Pakistan" "" "0" "" "" "" "FamLPatV5" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 296 "{{individualid}}" "{{diseaseid}}" "00001806" "00112" "00143966" "04214" "00207592" "04214" "00207606" "04214" "00233442" "04214" "00233443" "04214" "00233444" "04214" "00233445" "04214" "00233446" "04214" "00233447" "04214" "00233448" "04214" "00233449" "04214" "00233450" "04214" "00233451" "04214" "00233452" "04214" "00233453" "04214" "00233454" "04214" "00233455" "04214" "00233456" "04214" "00233457" "04214" "00233458" "04214" "00233459" "04214" "00233460" "04214" "00233461" "04214" "00233462" "04214" "00233796" "04214" "00291637" "00198" "00309313" "04214" "00309314" "04214" "00320014" "04214" "00320016" "04214" "00320017" "04214" "00320018" "04214" "00320019" "04214" "00320020" "04214" "00320021" "04214" "00320022" "04214" "00320023" "04214" "00320024" "04214" "00320025" "04214" "00320026" "04214" "00320027" "04214" "00320028" "04214" "00320029" "04214" "00320030" "04214" "00325498" "04214" "00326684" "04214" "00328332" "04214" "00328409" "04214" "00328410" "04214" "00332501" "04214" "00333353" "04214" "00333357" "04214" "00333437" "04214" "00333438" "04214" "00333579" "04214" "00333852" "04214" "00333977" "04214" "00335218" "04214" "00335298" "04214" "00335309" "04214" "00335414" "04214" "00335567" "04214" "00335568" "04214" "00335569" "04214" "00335570" "04214" "00335571" "04214" "00335648" "04214" "00335649" "04214" "00335650" "04214" "00335651" "04214" "00335652" "04214" "00335732" "04214" "00335733" "04214" "00358733" "04214" "00358796" "04214" "00358929" "04214" "00359106" "04214" "00359158" "04214" "00359167" "04214" "00359181" "04214" "00359319" "04214" "00359371" "04214" "00362262" "04250" "00362262" "05103" "00363389" "04214" "00363509" "04214" "00372636" "04214" "00372637" "04214" "00372638" "04214" "00373482" "04214" "00373487" "04214" "00373934" "04214" "00376295" "04214" "00376774" "04214" "00377190" "04214" "00377413" "04214" "00377414" "04214" "00377415" "04214" "00377726" "04214" "00377814" "04214" "00377815" "04214" "00377816" "04214" "00377817" "04214" "00377947" "04214" "00377948" "04214" "00377949" "04214" "00379419" "04214" "00379420" "04214" "00379556" "04214" "00379863" "04214" "00379864" "04214" "00380175" "04214" "00381014" "04214" "00381714" "04214" "00381775" "04214" "00381776" "04214" "00381777" "04214" "00381806" "04214" "00381807" "04214" "00381915" "04214" "00382582" "04214" "00383453" "04214" "00385009" "04214" "00386287" "04214" "00386561" "04214" "00386586" "04214" "00386792" "04214" "00386803" "04214" "00386838" "04214" "00386991" "04214" "00386992" "04214" "00386993" "04214" "00386994" "04214" "00389331" "04214" "00389599" "04214" "00389600" "04214" "00389661" "04214" "00389667" "04214" "00389668" "04214" "00389681" "04214" "00389699" "04214" "00389751" "04214" "00389970" "04214" "00389979" "04214" "00390353" "04214" "00392137" "04214" "00392162" "04214" "00392271" "04214" "00392317" "04214" "00392338" "04214" "00392358" "04214" "00392369" "04214" "00392388" "04214" "00392592" "04214" "00392635" "04214" "00393507" "04214" "00393581" "04214" "00394335" "04214" "00394492" "04214" "00394493" "04214" "00394494" "04214" "00394495" "04214" "00394496" "04214" "00394497" "04214" "00394498" "04214" "00394499" "04214" "00395853" "04214" "00395932" "04214" "00396485" "04214" "00396536" "04214" "00396560" "04214" "00396634" "04214" "00396642" "04214" "00408422" "04214" "00411618" "04214" "00411619" "04214" "00416303" "04214" "00416304" "04214" "00416305" "04214" "00416306" "04214" "00416307" "04214" "00416308" "04214" "00416309" "04214" "00416310" "04214" "00416311" "04214" "00416312" "04214" "00416313" "04214" "00416314" "04214" "00416315" "04214" "00416316" "04214" "00416317" "04214" "00416318" "04214" "00416323" "04214" "00416324" "04214" "00416325" "04214" "00416326" "04214" "00416327" "04214" "00416328" "04214" "00416329" "04214" "00416330" "04214" "00416331" "04214" "00416332" "04214" "00416333" "04214" "00416334" "04214" "00416335" "04214" "00416336" "04214" "00416337" "04214" "00416338" "04214" "00416339" "04214" "00416340" "04214" "00416341" "04214" "00416342" "04214" "00416343" "04214" "00416344" "04214" "00416345" "04214" "00416346" "04214" "00416347" "04214" "00416348" "04214" "00416349" "04214" "00416350" "04214" "00416351" "04214" "00416352" "04214" "00416353" "04214" "00416354" "04214" "00416355" "04214" "00416356" "04214" "00416357" "04214" "00416358" "04214" "00416359" "04214" "00416360" "04214" "00416361" "04214" "00416362" "04214" "00416363" "04214" "00416364" "04214" "00416365" "04214" "00416366" "04214" "00416367" "04214" "00416368" "04214" "00416369" "04214" "00416370" "04214" "00416371" "04214" "00416372" "04214" "00416373" "04214" "00416374" "04214" "00416375" "04214" "00416376" "04214" "00416377" "04214" "00416380" "04214" "00416381" "04214" "00416382" "04214" "00416383" "04214" "00416384" "04214" "00416385" "04214" "00416386" "04214" "00416387" "04214" "00416388" "04214" "00416389" "04214" "00416390" "04214" "00416391" "04214" "00416392" "04214" "00416393" "04214" "00420404" "04214" "00420579" "04214" "00420790" "04214" "00420791" "04214" "00420792" "04214" "00420793" "04214" "00420794" "04214" "00420795" "04214" "00420796" "04214" "00420797" "04214" "00420798" "04214" "00426932" "04214" "00429498" "00112" "00429546" "00112" "00429761" "00112" "00429812" "00112" "00429951" "00112" "00446928" "00198" "00446929" "00198" "00446949" "00198" "00447153" "00198" "00447288" "00198" "00447317" "00198" "00447321" "00198" "00447411" "00198" "00447489" "00198" "00447502" "00198" "00450434" "02282" "00451567" "00198" "00451568" "00198" "00451569" "00198" "00451570" "00198" "00451571" "00198" "00451572" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 02282, 04214, 04250, 05103 ## Count = 269 "{{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}}" "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" "" "0000155403" "04214" "00207592" "01244" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000155417" "04214" "00207606" "01244" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234633" "04214" "00309313" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234634" "04214" "00309314" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000242058" "04214" "00320014" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Autosomal Dominant Retinitis Pigmentosa (RPAD)" "" "0000242060" "04214" "00320016" "00008" "Familial, autosomal dominant" "" "age: 77y" "" "" "" "" "" "" "" "" "" "Autosomal Dominant Retinitis Pigmentosa (RPAD)" "" "0000242061" "04214" "00320017" "00008" "Familial, autosomal dominant" "" "age: 50y" "" "" "" "" "" "" "" "" "" "Autosomal Dominant Retinitis Pigmentosa (RPAD)" "" "0000242062" "04214" "00320018" "00008" "Familial, autosomal dominant" "" "age: 18y" "" "" "" "" "" "" "" "" "" "Autosomal Dominant Retinitis Pigmentosa (RPAD)" "" "0000242063" "04214" "00320019" "00008" "Familial, autosomal dominant" "" "age: 45y" "" "" "" "" "" "" "" "" "" "Autosomal Dominant Retinitis Pigmentosa (RPAD)" "" "0000242064" "04214" "00320020" "00008" "Familial, autosomal dominant" "" "age: 19y" "" "" "" "" "" "" "" "" "" "Autosomal Dominant Retinitis Pigmentosa (RPAD)" "" "0000242065" "04214" "00320021" "00008" "Familial, autosomal dominant" "" "age: 70y" "" "" "" "" "" "" "" "" "" "Autosomal Dominant Retinitis Pigmentosa (RPAD)" "" "0000242066" "04214" "00320022" "00008" "Familial, autosomal dominant" "" "age: 68y" "" "" "" "" "" "" "" "" "" "Autosomal Dominant Retinitis Pigmentosa (RPAD)" "" "0000242067" "04214" "00320023" "00008" "Familial, autosomal dominant" "" "age: 65y" "" "" "" "" "" "" "" "" "" "Autosomal Dominant Retinitis Pigmentosa (RPAD)" "" "0000242068" "04214" "00320024" "00008" "Familial, autosomal dominant" "" "age: 30y" "" "" "" "" "" "" "" "" "" "Autosomal Dominant Retinitis Pigmentosa (RPAD)" "" "0000242069" "04214" "00320025" "00008" "Familial, autosomal dominant" "" "age: 29y" "" "" "" "" "" "" "" "" "" "Autosomal Dominant Retinitis Pigmentosa (RPAD)" "" "0000242070" "04214" "00320026" "00008" "Familial, autosomal dominant" "" "age: 28y" "" "" "" "" "" "" "" "" "" "Autosomal Dominant Retinitis Pigmentosa (RPAD)" "" "0000242071" "04214" "00320027" "00008" "Familial, autosomal dominant" "" "age: 64y" "" "" "" "" "" "" "" "" "" "Autosomal Dominant Retinitis Pigmentosa (RPAD)" "" "0000242072" "04214" "00320028" "00008" "Familial, autosomal dominant" "" "age: 40y" "" "" "" "" "" "" "" "" "" "Autosomal Dominant Retinitis Pigmentosa (RPAD)" "" "0000242073" "04214" "00320029" "00008" "Familial, autosomal dominant" "" "age: 34y" "" "" "" "" "" "" "" "" "" "Autosomal Dominant Retinitis Pigmentosa (RPAD)" "" "0000242074" "04214" "00320030" "00008" "Familial, autosomal dominant" "" "age: 31y" "" "" "" "" "" "" "" "" "" "Autosomal Dominant Retinitis Pigmentosa (RPAD)" "" "0000243985" "04214" "00325498" "00006" "Familial, autosomal dominant" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000245150" "04214" "00326684" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (ADRP)" "" "0000246559" "04214" "00328332" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246635" "04214" "00328409" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000246636" "04214" "00328410" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia" "" "0000250685" "04214" "00332501" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (AD)" "" "0000251540" "04214" "00333353" "00000" "Familial, autosomal dominant" "27y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251544" "04214" "00333357" "00000" "Familial, X-linked recessive" "39y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251623" "04214" "00333437" "00000" "Unknown" "24y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251624" "04214" "00333438" "00000" "Unknown" "53y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251763" "04214" "00333579" "00000" "Familial, autosomal dominant" "59y" "clinical category IA1aiii" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252037" "04214" "00333852" "00000" "Isolated (sporadic)" "15y" "clinical category IA1a" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252162" "04214" "00333977" "00000" "Isolated (sporadic)" "14y" "clinical category IA2c" "" "" "" "" "" "" "" "" "" "early childhood onset retinal dystrophy" "" "0000252933" "04214" "00335218" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253013" "04214" "00335298" "02485" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253024" "04214" "00335309" "02485" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253360" "04214" "00335414" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253512" "04214" "00335567" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253513" "04214" "00335568" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253514" "04214" "00335569" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253515" "04214" "00335570" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253516" "04214" "00335571" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253568" "04214" "00335648" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253569" "04214" "00335649" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253570" "04214" "00335650" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253571" "04214" "00335651" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253572" "04214" "00335652" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (adRP)" "" "0000253650" "04214" "00335732" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253651" "04214" "00335733" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253948" "04214" "00358733" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254011" "04214" "00358796" "00000" "Unknown" "20y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254228" "04214" "00358929" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254403" "04214" "00359106" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254455" "04214" "00359158" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254464" "04214" "00359167" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254478" "04214" "00359181" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254615" "04214" "00359319" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000254642" "04214" "00359371" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000258754" "04214" "00363389" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" "0000258859" "04214" "00363509" "00000" "Familial, autosomal dominant" "23y" "visual acuity R 0.8, L 0.8; bilateral attenuation of retinal arterioles, widespread RPE degeneration, macular epimembrane" "3y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267915" "04214" "00372636" "00000" "Familial, autosomal dominant" "33y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267916" "04214" "00372637" "00000" "Familial, autosomal dominant" "5y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267917" "04214" "00372638" "00000" "Isolated (sporadic)" "24y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268758" "04214" "00373482" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268763" "04214" "00373487" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269143" "04214" "00373934" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271503" "04214" "00376295" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa ( RP)" "" "0000271985" "04214" "00376774" "00000" "Familial, autosomal dominant" "7y" "" "" "" "" "" "" "" "" "" "" "Rod dystrophy" "" "0000272348" "04214" "00377190" "00000" "Isolated (sporadic)" "14y" "see paper" "4y" "7y" "" "" "" "" "" "" "" "retinal disease" "" "0000272563" "04214" "00377413" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "RP13" "retinitis pigmentosa" "" "0000272564" "04214" "00377414" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "RP13" "retinitis pigmentosa" "" "0000272565" "04214" "00377415" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "RP13" "retinitis pigmentosa" "" "0000272877" "04214" "00377726" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Autosomal Dominant Retinitis Pigmentosa" "" "0000272960" "04214" "00377814" "00000" "Familial" "" "Bilateral nanophthalmia None" "" "" "" "" "" "" "" "" "" "microphthalmia anophthalmia coloboma (MAC)" "" "0000272961" "04214" "00377815" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Juvenile Retinitis pigmentaria" "" "0000272962" "04214" "00377816" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Juvenile Retinitis pigmentaria" "" "0000272963" "04214" "00377817" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Juvenile Retinitis pigmentaria" "" "0000273093" "04214" "00377947" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000273094" "04214" "00377948" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000273095" "04214" "00377949" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000273292" "04214" "00379419" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273293" "04214" "00379420" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early-onset high myopia (eoHM)" "" "0000273717" "04214" "00379863" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000273718" "04214" "00379864" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000274030" "04214" "00380175" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000274865" "04214" "00381014" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000275556" "04214" "00381714" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa Simplex" "" "0000275617" "04214" "00381775" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000275618" "04214" "00381776" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000275619" "04214" "00381777" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" "" "0000275648" "04214" "00381806" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa Simplex" "" "0000275649" "04214" "00381807" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa Simplex" "" "0000275757" "04214" "00381915" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000276431" "04214" "00382582" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277238" "04214" "00383453" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Rod-cone dystrophy" "" "0000278793" "04214" "00385009" "00000" "Isolated (sporadic)" "5y" "nyctalopia, no nystagmus, ERG extinguished, best corrected visual acuity right/left eye: NA" "3y" "" "" "" "" "" "" "" "early onset severe retinal dystrophy" "early onset severe retinal dystrophy" "" "0000280090" "04214" "00386287" "00000" "Familial, autosomal dominant" "54y" "" "" "33y" "" "" "" "" "" "" "retinitis pigmentosa" "autosomal recessive retinitis pigmentosa" "" "0000280361" "04214" "00386561" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280386" "04214" "00386586" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280592" "04214" "00386792" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280603" "04214" "00386803" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280638" "04214" "00386838" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280769" "04214" "00386991" "00000" "Familial, autosomal dominant" "38y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "" "" "0000280770" "04214" "00386992" "00000" "Familial, autosomal dominant" "16y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "" "" "0000280771" "04214" "00386993" "00000" "Familial, autosomal dominant" "58y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "" "" "0000280772" "04214" "00386994" "00000" "Familial, autosomal dominant" "64y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "" "" "0000282872" "04214" "00389331" "00000" "Familial, autosomal dominant" "42y" "age at genetic diagnosis mentioned" "" "36y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000283140" "04214" "00389599" "00000" "Familial, autosomal dominant" "54y" "age at genetic diagnosis mentioned" "" "49y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000283141" "04214" "00389600" "00000" "Familial, autosomal dominant" "92y" "age at genetic diagnosis mentioned" "" "87y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000283202" "04214" "00389661" "00000" "Familial, autosomal dominant" "25y" "age at genetic diagnosis mentioned" "" "22y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000283208" "04214" "00389667" "00000" "Familial, autosomal dominant" "56y" "age at genetic diagnosis mentioned" "" "53y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000283209" "04214" "00389668" "00000" "Familial, autosomal dominant" "27y" "age at genetic diagnosis mentioned" "" "24y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000283222" "04214" "00389681" "00000" "Familial, autosomal dominant" "43y" "age at genetic diagnosis mentioned" "" "40y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000283240" "04214" "00389699" "00000" "Familial, autosomal dominant" "36y" "age at genetic diagnosis mentioned" "" "35y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000283292" "04214" "00389751" "00000" "Isolated (sporadic)" "45y" "age at genetic diagnosis mentioned" "" "40y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283511" "04214" "00389970" "00000" "Isolated (sporadic)" "31y" "age at genetic diagnosis mentioned" "" "30y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283520" "04214" "00389979" "00000" "Isolated (sporadic)" "20y" "age at genetic diagnosis mentioned" "" "18y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283891" "04214" "00390353" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000285415" "04214" "00392137" "00000" "Unknown" "17y" "best corrected visual acuity right/left eye: 0.8/0.8, visual field: constricted, fundus: RPE atrophy, fundus autofluorescence: hyperautofluorescence macular ring, optical coherence tomography: paracentral thinning, center spared" "" "9y" "" "" "" "" "" "" "RPN-432" "rod-cone dystrophy" "" "0000285440" "04214" "00392162" "00000" "Unknown" "17y" "best corrected visual acuity right/left eye: 0.8/0.8, visual field: constricted, fundus: RPE atrophy, fundus autofluorescence: hyperautofluorescence macular ring, optical coherence tomography: paracentral thinning, center spared" "" "9y" "" "" "" "" "" "" "RPN-432" "rod-cone dystrophy" "" "0000285549" "04214" "00392271" "00000" "Familial, autosomal dominant" "17y" "Posterior subcapsular cataract retinal dystrophy" "" "15y6m" "" "" "" "" "" "" "Retinitis pigmentosa 13" "" "" "0000285593" "04214" "00392317" "00000" "Familial, autosomal dominant" "6y" "best corrected visual acuity right/left eye: 0.2/0.1, electroretinograhy responses: not available" "<5y" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "Retinitis pigmentosa, autosomal dominant" "" "0000285614" "04214" "00392338" "00000" "Familial, autosomal dominant" "36y" "best corrected visual acuity right/left eye: hand movement/0.2, electroretinograhy responses: not available" "1y6m" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "Retinitis pigmentosa, autosomal dominant" "" "0000285634" "04214" "00392358" "00000" "Familial, autosomal dominant" "8y" "best corrected visual acuity right/left eye: 0.3/0.2, electroretinograhy responses: not available" "<5y" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "Retinitis pigmentosa, autosomal dominant" "" "0000285645" "04214" "00392369" "00000" "Familial, autosomal dominant" "5y" "best corrected visual acuity right/left eye: 0.7/0.5, electroretinograhy responses: not available" "2y" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "Retinitis pigmentosa, autosomal dominant" "" "0000285664" "04214" "00392388" "00000" "Familial, autosomal dominant" "40y" "best corrected visual acuity right/left eye: 0.2/0.7, electroretinograhy responses: extinguished" "20y" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "Retinitis pigmentosa, autosomal dominant" "" "0000285839" "04214" "00392592" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000285882" "04214" "00392635" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000286713" "04214" "00393507" "00000" "Isolated (sporadic)" "39y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286787" "04214" "00393581" "00000" "Familial, autosomal dominant" "44y" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" "" "0000287539" "04214" "00394335" "00000" "Unknown" "" "" "" "20y" "" "" "" "" "" "" "retinits pigmentosa" "" "" "0000287695" "04214" "00394492" "00000" "Familial, autosomal dominant" "34y" "" "" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287696" "04214" "00394493" "00000" "Familial, autosomal dominant" "71y" "" "33y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287697" "04214" "00394494" "00000" "Familial, autosomal dominant" "55y" "" "6y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287698" "04214" "00394495" "00000" "Familial, autosomal dominant" "62y" "" "" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287699" "04214" "00394496" "00000" "Familial, autosomal dominant" "32y" "" "5y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287700" "04214" "00394497" "00000" "Familial, autosomal dominant" "20y" "" "20y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287701" "04214" "00394498" "00000" "Familial, autosomal dominant" "40y" "" "30y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287702" "04214" "00394499" "00000" "Familial, autosomal dominant" "63y" "" "30y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000289015" "04214" "00395853" "00000" "Unknown" "53y" "" "50y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000289094" "04214" "00395932" "00000" "Unknown" "33y8m" "" "8y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000289646" "04214" "00396485" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (Dominant) N" "" "" "0000289697" "04214" "00396536" "00000" "Familial, autosomal recessive" "54y" "night blindness" "<12y" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000289721" "04214" "00396560" "00000" "Isolated (sporadic)" "35y" "" "35y" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000289795" "04214" "00396634" "00000" "Unknown" "82y" "decreased visual acuity" "55y" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000289803" "04214" "00396642" "00000" "Isolated (sporadic)" "21y" "night blindness" "20y" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000300538" "04214" "00408422" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000303645" "04214" "00411618" "00000" "Familial, autosomal dominant" "63y" "post-mortem eye morphology: no rod photoreceptors and a reduced number of cone photoreceptors with shortened or absent outer segments; the cones contained perinuclear membranous swirls and inclusion in the inner segments; intact retinal pigment epithelium and choroid" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000303646" "04214" "00411619" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308070" "04214" "00416303" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308071" "04214" "00416304" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308072" "04214" "00416305" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308073" "04214" "00416306" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308074" "04214" "00416307" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308075" "04214" "00416308" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308076" "04214" "00416309" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308077" "04214" "00416310" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308078" "04214" "00416311" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308079" "04214" "00416312" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308080" "04214" "00416313" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308081" "04214" "00416314" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308082" "04214" "00416315" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308083" "04214" "00416316" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308084" "04214" "00416317" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308085" "04214" "00416318" "00000" "Familial, autosomal dominant" "" "asymptomatic by history but not yet clinically tested" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308088" "04214" "00416323" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308089" "04214" "00416324" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308090" "04214" "00416325" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308091" "04214" "00416326" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308092" "04214" "00416327" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308093" "04214" "00416328" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308094" "04214" "00416329" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308095" "04214" "00416330" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308096" "04214" "00416331" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308097" "04214" "00416332" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308098" "04214" "00416333" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308099" "04214" "00416334" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308100" "04214" "00416335" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308101" "04214" "00416336" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308102" "04214" "00416337" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308103" "04214" "00416338" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308104" "04214" "00416339" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308105" "04214" "00416340" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308106" "04214" "00416341" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308107" "04214" "00416342" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308108" "04214" "00416343" "00000" "Familial, autosomal dominant" "59y" "time course of disease expression similar to that of the proband; 59y: visual acuity declined to hand motion in both eyes" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308109" "04214" "00416344" "00000" "Familial, autosomal dominant" "56y" "best corrected visual acuity: 0.8 in both eyes; fundus: degenerative retina with typical peripheral bone spicules; visual field constricted to 10deg in both eyes; dark-adapted electroretinogram: nonrecordable pattern in both eyes" ">10y" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308110" "04214" "00416345" "00000" "Familial, autosomal dominant" "" "electroretinogram: nonrecordable at the time of diagnosis" "" "3y" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308111" "04214" "00416346" "00000" "Familial, autosomal dominant" "" "electroretinogram: nonrecordable at the time of diagnosis" "" "2y" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308112" "04214" "00416347" "00000" "Familial, autosomal dominant" "" "whole family description: mean age of onset: 10.3 years (+/-6.4 SD) with night blindness; best corrected visual acuity: between 1 and 0.2 (mean values 0.68+/-0.36 SD); myopic refraction: between -4 and -2 diopters in 4 of 6 patients. Individual description: color vision: normal; fundus: atrophy of the retinal pigmented epithelium in the midperiphery; bone spicule pigmentation diffuse in all retinal quadrants, retinal vessels narrowed; scanning laser ophthalmoscopy: no possibility of evaluation due to the size of the cataract; scotopic electroretinogram: non recordable, photopic reduced (mean amplitude of five photopic traces: 47 uV (+/-67 SD)" "" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308113" "04214" "00416348" "00000" "Familial, autosomal dominant" "" "whole family description: mean age of onset: 10.3 years (+/-6.4 SD) with night blindness; best corrected visual acuity: between 1 and 0.2 (mean values 0.68+/-0.36 SD); myopic refraction: between -4 and -2 diopters in 4 of 6 patients. Individual description: color vision: achromatopsia; fundus: atrophy of the retinal pigmented epithelium in the midperiphery; bone spicule pigmentation diffuse in all retinal quadrants, retinal vessels narrowed; scanning laser ophthalmoscopy: no possibility of evaluation due to the size of the cataract; scotopic electroretinogram: non recordable, photopic extinguishe" "" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308114" "04214" "00416349" "00000" "Familial, autosomal dominant" "" "whole family description: mean age of onset: 10.3 years (+/-6.4 SD) with night blindness; best corrected visual acuity: between 1 and 0.2 (mean values 0.68+/-0.36 SD); myopic refraction: between -4 and -2 diopters in 4 of 6 patients. Individual description: color vision: normal; fundus: atrophy of the retinal pigmented epithelium in the midperiphery; bone spicule pigmentation diffuse in all retinal quadrants, retinal vessels narrowed; scanning laser ophthalmoscopy: parafoveal hyperautofluorescent ring; scotopic electroretinogram: non recordable, photopic reduced (mean amplitude of five photopic traces: 47 uV (+/-67 SD)" "" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308115" "04214" "00416350" "00000" "Familial, autosomal dominant" "" "whole family description: mean age of onset: 10.3 years (+/-6.4 SD) with night blindness; best corrected visual acuity: between 1 and 0.2 (mean values 0.68+/-0.36 SD); myopic refraction: between -4 and -2 diopters in 4 of 6 patients. Individual description: color vision: normal; fundus: atrophy of the retinal pigmented epithelium in the midperiphery; bone spicule pigmentation diffuse in all retinal quadrants, retinal vessels narrowed; optical coherence tomography: cystoid macular edema; scanning laser ophthalmoscopy: parafoveal hyperautofluorescent ring; scotopic electroretinogram: non recordable, photopic reduced (mean amplitude of five photopic traces: 47 uV (+/-67 SD)" "" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308116" "04214" "00416351" "00000" "Familial, autosomal dominant" "" "whole family description: mean age of onset: 10.3 years (+/-6.4 SD) with night blindness; best corrected visual acuity: between 1 and 0.2 (mean values 0.68+/-0.36 SD); myopic refraction: between -4 and -2 diopters in 4 of 6 patients. Individual description: color vision: normal; \"\"salt-and-pepper\"\" pigmented fundus; scanning laser ophthalmoscopy: parafoveal hyperautofluorescent ring; scotopic electroretinogram: recordable, photopic reduced (mean amplitude of five photopic traces: 47 uV (+/-67" "" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308117" "04214" "00416352" "00000" "Familial, autosomal dominant" "" "whole family description: mean age of onset: 10.3 years (+/-6.4 SD) with night blindness; best corrected visual acuity: between 1 and 0.2 (mean values 0.68+/-0.36 SD); myopic refraction: between -4 and -2 diopters in 4 of 6 patients. Individual description: color vision: normal; fundus: scattered intraretinal bone spicule pigment deposits in the inferotemporal sectors; scanning laser ophthalmoscopy: parafoveal hyperautofluorescent ring; scotopic electroretinogram: non recordable, photopic reduced (mean amplitude of five photopic traces: 47 uV (+/-67 SD)" "" "" "night blindness" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308118" "04214" "00416353" "00000" "Familial, autosomal dominant" "54y" "best corrected visual acuity right/left eye: 20/200, 20/200; lens status (qualitatively graded from 1 to 4 according to the severity of cataractous changes) right, left eye: 1 posterior subcapsular cataract, 1 posterior subcapsular cataract; refractive status right, left eye: -4.25+1.00x105, -3.50+1.00x" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308119" "04214" "00416354" "00000" "Familial, autosomal dominant" "43y" "best corrected visual acuity right/left eye: 20/30, 20/30; lens status (qualitatively graded from 1 to 4 according to the severity of cataractous changes) right, left eye: 2.5 posterior subcapsular cataract, 2.5 posterior subcapsular cataract; refractive status right, left eye: -5.50+3.00x110, -4.25+1.25x" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308120" "04214" "00416355" "00000" "Familial, autosomal dominant" "44y" "best corrected visual acuity right/left eye: 20/25-2, 20/25-2; lens status (qualitatively graded from 1 to 4 according to the severity of cataractous changes) right, left eye: clear, clear; refractive status right, left eye: -7.00+1.75x94," "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308121" "04214" "00416356" "00000" "Familial, autosomal dominant" "28y" "best corrected visual acuity right/left eye: 20/200, 20/80; lens status (qualitatively graded from 1 to 4 according to the severity of cataractous changes) right, left eye: clear, clear; refractive status right, left eye: Plano+1.50x100, +1.00+1.50x100" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308122" "04214" "00416357" "00000" "Familial, autosomal dominant" "35y" "best corrected visual acuity right/left eye: 20/30+2, 2/200-1; lens status (qualitatively graded from 1 to 4 according to the severity of cataractous changes) right, left eye: clear, clear; refractive status right, left eye: -0.75+0.25x90, -1.25+0.5" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308123" "04214" "00416358" "00000" "Familial, autosomal dominant" "26y" "best corrected visual acuity right/left eye: 20/40+2, 20/40+3; lens status (qualitatively graded from 1 to 4 according to the severity of cataractous changes) right, left eye: clear, clear; refractive status right, left eye: -1.00+0.50x175, -1." "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308124" "04214" "00416359" "00000" "Familial, autosomal dominant" "33y" "best corrected visual acuity right/left eye: 20/40+2, 20/30+2; lens status (qualitatively graded from 1 to 4 according to the severity of cataractous changes) right, left eye: punctate cortical, +0.5 posterior subcapsular cataract; refractive status right, left eye: -4.50+1.75x95, -4.25+1.75x" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308125" "04214" "00416360" "00000" "Familial, autosomal dominant" "8y" "best corrected visual acuity right/left eye: 20/25-3, 20/25-3; lens status (qualitatively graded from 1 to 4 according to the severity of cataractous changes) right, left eye: clear, clear; refractive status right, left eye: -2.75+2.25x90, -1.00+1" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308126" "04214" "00416361" "00000" "Familial, autosomal dominant" "14y" "best corrected visual acuity right/left eye: 20/20-2, 20/25+2; lens status (qualitatively graded from 1 to 4 according to the severity of cataractous changes) right, left eye: clear, clear; refractive status right, left eye: -3.00+2.00x90, -2.75+1.0" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308127" "04214" "00416362" "00000" "Familial, autosomal dominant" "29y" "best corrected visual acuity right/left eye: 20/200, 20/400; lens status (qualitatively graded from 1 to 4 according to the severity of cataractous changes) right, left eye: 0.25 posterior subcapsular cataract, clear; refractive status right, left eye: -1.50, -1" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308128" "04214" "00416363" "00000" "Familial, autosomal dominant" "25y" "best corrected visual acuity right/left eye: 8/350, 8/400; lens status (qualitatively graded from 1 to 4 according to the severity of cataractous changes) right, left eye: 1 posterior subcapsular cataract, 1 posterior subcapsular cataract; refractive status right, left eye: -4.00+2.50x90, -6.00+3.25x" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308129" "04214" "00416364" "00000" "Familial, autosomal dominant" "5y" "best corrected visual acuity right/left eye: 20/25-2, 20/25-2; lens status (qualitatively graded from 1 to 4 according to the severity of cataractous changes) right, left eye: clear, clear; refractive status right, left eye: -1.25+1.25x60, -1.00+1." "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308130" "04214" "00416365" "00000" "Familial, autosomal dominant" "12y" "best corrected visual acuity right/left eye: 20/25-2, 20/25-2; lens status (qualitatively graded from 1 to 4 according to the severity of cataractous changes) right, left eye: clear, clear; refractive status right, left eye: -6.00+3.00x100, -4.75+2" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308131" "04214" "00416366" "00000" "Familial, autosomal dominant" "7y" "best corrected visual acuity right/left eye: 20/40, 20/40; lens status (qualitatively graded from 1 to 4 according to the severity of cataractous changes) right, left eye: clear, clear; refractive status right, left eye: Plano, -1.25+1.50x90" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308132" "04214" "00416367" "00000" "Familial, autosomal dominant" "11y" "best corrected visual acuity right, left eye: 6/12, 6/12; visual field: 10 deg; electroretinogram: non-recordable; comments: central macular oedema" "8y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308133" "04214" "00416368" "00000" "Familial, autosomal dominant" "67y" "best corrected visual acuity right, left eye: 6/18, 6/24; visual field: 5 deg" ">15y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308134" "04214" "00416369" "00000" "Familial, autosomal dominant" "48y" "best corrected visual acuity right, left eye: 6/9, 6/9; comments: cataract 50y" "<8y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308135" "04214" "00416370" "00000" "Familial, autosomal dominant" "15y" "best corrected visual acuity right, left eye: 6/9, 6/9; electroretinogram: non-recordable; comments: central macular oedema" "16y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308136" "04214" "00416371" "00000" "Familial, autosomal dominant" "35y" "best corrected visual acuity right, left eye: 6/24, 2/60; visual field: 5 deg; comments: cataract 24y" "18y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308137" "04214" "00416372" "00000" "Familial, autosomal dominant" "57y" "best corrected visual acuity right, left eye: hand movement, 6/18; visual field: 15 deg; comments: cataract 55y" ">25y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308138" "04214" "00416373" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308139" "04214" "00416374" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308140" "04214" "00416375" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308141" "04214" "00416376" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308142" "04214" "00416377" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308145" "04214" "00416380" "00000" "Familial, autosomal dominant" "62y" "6y: visual acuity decreased; no central macular edema reported, suggesting atrophic changes as a cause of the decrease in visual acuity; 40y: operated for bilateral cataract; 59y: visual acuity: counting fingers bilaterally, 62y: hand movement; fundus: 59y: extensive macular atrophy, retinal vascular attenuation, prominent bone spicule-like pigment deposits extending from the vascular arcades toward the periphery; fundus autofluorescence: large confluent areas of hypoautofluorescence, also extending from the vascular arcades toward the periphery and areas of hypoautofluorescence in the macula within 10 deg of fixation, sparing an area of normal autofluorescence at the mid-periphery; spectral domain optical coherence tomography of the macular region: a severely disrupted retinal architecture in the right eye; photoreceptor inner/outer segment boundary and the outer limiting membrane not identifiable, drusen-like deposits were observed in the outer retina, as well as the presence of numerous intraretinal cysts and microcysts; inner limiting membrane had detached from the inner retina, probably because of the presence of a tractional epiretinal membrane; retinal layering of the left eye was similarly severely affecte; 59y: undetectable photopic and scotopic full field electroretinograms" "" "6y" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308146" "04214" "00416381" "00000" "Familial, autosomal dominant" "31y" "macular atrophy caused further decrease in visual acuity; 28y: best corrected visual acuity: 0.2 bilaterally; 31y: visual acuity further decreased to 0.16 in both eyes; 30y: bilateral cataract extraction; 28y: fundus: retinal vascular attenuation and diffuse bone spicule-like pigments in the periphery; fundus autofluorescence: numerous hypoautofluorescent areas at the periphery, small perifoveal ring of hyperautofluorescence became further constricted over the three-year-period of clinical observation and progressed to a hypoautofluorescent area in the left eye, optical coherence tomography: foveal thinning evident, with a central retinal thickness right/left eye: 178 / 180 um, retinal layers partially disrupted in the macular and perimacular region, outer limiting membrane present, hyperautofluorescent drusen-like deposits mainly in the perimacular region; 31y: macular architecture further affected, an epiretinal membrane had started to form in the macular periphery of the left eye, without evidence of ion; 28y: undetectable photopic and scotopic full field electroretinograms" "" "05y" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000308147" "04214" "00416382" "00000" "Familial, autosomal dominant" "" "whole family description: bilateral glaucomatous optic neuropathy with a cup-to-disc ratio (CDR) >0.7 on fundoscopy with compatible glaucomatous visual field loss; intraocular pressure: >22 mmHg, and the anterior chamber angles: open; abnormal results on Heidelberg Retina Tomography (HRT) II testing" "" "6y" "" "" "" "" "" "" "primary open angle glaucoma" "" "" "0000308148" "04214" "00416383" "00000" "Familial, autosomal dominant" "" "whole family description: bilateral glaucomatous optic neuropathy with a cup-to-disc ratio (CDR) >0.7 on fundoscopy with compatible glaucomatous visual field loss; intraocular pressure: >22 mmHg, and the anterior chamber angles: open; abnormal results on Heidelberg Retina Tomography (HRT) II testing" "" "6y" "" "" "" "" "" "" "primary open angle glaucoma" "" "" "0000308149" "04214" "00416384" "00000" "Familial, autosomal dominant" "" "whole family description: bilateral glaucomatous optic neuropathy with a cup-to-disc ratio (CDR) >0.7 on fundoscopy with compatible glaucomatous visual field loss; intraocular pressure: >22 mmHg, and the anterior chamber angles: open; abnormal results on Heidelberg Retina Tomography (HRT) II testing" "" "6y" "" "" "" "" "" "" "primary open angle glaucoma" "" "" "0000308150" "04214" "00416385" "00000" "Familial, autosomal dominant" "" "whole family description: bilateral glaucomatous optic neuropathy with a cup-to-disc ratio (CDR) >0.7 on fundoscopy with compatible glaucomatous visual field loss; intraocular pressure: >22 mmHg, and the anterior chamber angles: open; abnormal results on Heidelberg Retina Tomography (HRT) II testing" "" "6y" "" "" "" "" "" "" "primary open angle glaucoma" "" "" "0000308151" "04214" "00416386" "00000" "Familial, autosomal dominant" "" "" "" "6y" "" "" "" "" "" "" "primary open angle glaucoma" "" "" "0000308152" "04214" "00416387" "00000" "Familial, autosomal dominant" "" "" "" "6y" "" "" "" "" "" "" "primary open angle glaucoma" "" "" "0000308153" "04214" "00416388" "00000" "Familial, autosomal dominant" "" "" "" "6y" "" "" "" "" "" "" "primary open angle glaucoma" "" "" "0000308154" "04214" "00416389" "00000" "Familial, autosomal dominant" "" "" "" "6y" "" "" "" "" "" "" "primary open angle glaucoma" "" "" "0000308155" "04214" "00416390" "00000" "Familial, autosomal dominant" "" "" "" "6y" "" "" "" "" "" "" "primary open angle glaucoma" "" "" "0000308156" "04214" "00416391" "00000" "Familial, autosomal dominant" "" "" "" "6y" "" "" "" "" "" "" "primary open angle glaucoma" "" "" "0000308157" "04214" "00416392" "00000" "Familial, autosomal dominant" "" "" "" "6y" "" "" "" "" "" "" "primary open angle glaucoma" "" "" "0000308158" "04214" "00416393" "00000" "Familial, autosomal dominant" "" "" "" "6y" "" "" "" "" "" "" "primary open angle glaucoma" "" "" "0000311652" "04214" "00420404" "00000" "Familial, autosomal dominant" "53y" "" "50y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000311827" "04214" "00420579" "00000" "Familial, autosomal dominant" "33y8m" "" "8y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000312037" "04214" "00420790" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000312038" "04214" "00420791" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000312039" "04214" "00420792" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000312040" "04214" "00420793" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000312041" "04214" "00420794" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000312042" "04214" "00420795" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000312043" "04214" "00420796" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000312044" "04214" "00420797" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000312045" "04214" "00420798" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000318070" "04214" "00426932" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "rod-cone dystrophy" "rod-cone dystrophy" "" "0000320370" "00112" "00429498" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320418" "00112" "00429546" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320633" "00112" "00429761" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320684" "00112" "00429812" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320823" "00112" "00429951" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000336127" "00198" "00446928" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal dominant" "" "0000336128" "00198" "00446929" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal dominant" "" "0000336148" "00198" "00446949" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal dominant" "" "0000336352" "00198" "00447153" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000336487" "00198" "00447288" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336516" "00198" "00447317" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336520" "00198" "00447321" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336610" "00198" "00447411" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000336688" "00198" "00447489" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal dominant" "" "0000336701" "00198" "00447502" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000339495" "02282" "00450434" "04695" "Isolated (sporadic)" "" "macular edema,retinitis pigmentosa,blind" "" "" "" "" "" "" "" "" "Retinitis pigmentosa 13" "retinitis pigmentosa" "" "0000340242" "00198" "00451567" "04543" "Familial, autosomal recessive" "8y" "no night vision; day vision 20/30; normal color vision; no nystagmus; no corneal haze; no photophobia" "5y" "" "" "" "" "" "" "" "RP13" "congenital stationary night-blindness" "" "0000340243" "00198" "00451568" "04543" "Familial, autosomal recessive" "11y" "no night vision; day vision 20/40; normal color vision; no nystagmus; no corneal haze; no photophobia" "5y" "" "" "" "" "" "" "" "RP13" "congenital stationary night-blindness" "" "0000340244" "00198" "00451569" "04543" "Familial, autosomal recessive" "7y" "no night vision; day vision 20/30; normal color vision; no nystagmus; no corneal haze; no photophobia" "5y" "" "" "" "" "" "" "" "RP13" "congenital stationary night-blindness" "" "0000340245" "00198" "00451570" "04543" "Familial, autosomal recessive" "30y" "no night vision; day vision 20/100; normal color vision; no nystagmus; no corneal haze; no photophobia" "6y" "" "" "" "" "" "" "" "RP13" "congenital stationary night-blindness" "" "0000340246" "00198" "00451571" "04543" "Familial, autosomal recessive" "33y" "no night vision; day vision 20/100; normal color vision; no nystagmus; no corneal haze; no photophobia" "<6y" "" "" "" "" "" "" "" "RP13" "congenital stationary night-blindness" "" "0000340247" "00198" "00451572" "04543" "Familial, autosomal recessive" "35y" "no night vision; day vision 20/80; normal color vision; no nystagmus; no corneal haze; no photophobia" "5y" "" "" "" "" "" "" "" "RP13" "congenital stationary night-blindness" "" ## Screenings ## Do not remove or alter this header ## ## Count = 295 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000001609" "00001806" "1" "00102" "00102" "2013-08-08 21:28:01" "" "" "SEQ-NG-I" "DNA" "" "" "0000144825" "00143966" "1" "01780" "00006" "2017-11-28 22:45:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000208629" "00207592" "1" "01244" "01244" "2018-11-26 11:26:56" "" "" "SEQ-NG-I" "DNA" "Peripheral blood" "" "0000208643" "00207606" "1" "01244" "01244" "2018-11-26 15:54:54" "" "" "SEQ-NG-I" "DNA" "Peripheral blood" "" "0000234541" "00233442" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234542" "00233443" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234543" "00233444" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234544" "00233445" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234545" "00233446" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234546" "00233447" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234547" "00233448" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234548" "00233449" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234549" "00233450" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234550" "00233451" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234551" "00233452" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234552" "00233453" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234553" "00233454" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234554" "00233455" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234555" "00233456" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234556" "00233457" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234557" "00233458" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234558" "00233459" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234559" "00233460" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234560" "00233461" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234561" "00233462" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234895" "00233796" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000292805" "00291637" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000310458" "00309313" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310459" "00309314" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000321198" "00320014" "1" "00008" "00008" "2020-11-19 10:13:34" "" "" "DGGE; SEQ" "DNA" "Blood" "" "0000321200" "00320016" "1" "00008" "00008" "2020-11-19 10:13:34" "" "" "DGGE; SEQ" "DNA" "Blood" "" "0000321201" "00320017" "1" "00008" "00008" "2020-11-19 10:13:34" "" "" "DGGE; SEQ" "DNA" "Blood" "" "0000321202" "00320018" "1" "00008" "00008" "2020-11-19 10:13:34" "" "" "DGGE; SEQ" "DNA" "Blood" "" "0000321203" "00320019" "1" "00008" "00008" "2020-11-19 10:13:34" "" "" "DGGE; SEQ" "DNA" "Blood" "" "0000321204" "00320020" "1" "00008" "00008" "2020-11-19 10:13:34" "" "" "DGGE; SEQ" "DNA" "Blood" "" "0000321205" "00320021" "1" "00008" "00008" "2020-11-19 10:13:34" "" "" "DGGE; SEQ" "DNA" "Blood" "" "0000321206" "00320022" "1" "00008" "00008" "2020-11-19 10:13:34" "" "" "DGGE; SEQ" "DNA" "Blood" "" "0000321207" "00320023" "1" "00008" "00008" "2020-11-19 10:13:34" "" "" "DGGE; SEQ" "DNA" "Blood" "" "0000321208" "00320024" "1" "00008" "00008" "2020-11-19 10:13:34" "" "" "DGGE; SEQ" "DNA" "Blood" "" "0000321209" "00320025" "1" "00008" "00008" "2020-11-19 10:13:34" "" "" "DGGE; SEQ" "DNA" "Blood" "" "0000321210" "00320026" "1" "00008" "00008" "2020-11-19 10:13:34" "" "" "DGGE; SEQ" "DNA" "Blood" "" "0000321211" "00320027" "1" "00008" "00008" "2020-11-19 10:13:34" "" "" "DGGE; SEQ" "DNA" "Blood" "" "0000321212" "00320028" "1" "00008" "00008" "2020-11-19 10:13:34" "" "" "DGGE; SEQ" "DNA" "Blood" "" "0000321213" "00320029" "1" "00008" "00008" "2020-11-19 10:13:34" "" "" "DGGE; SEQ" "DNA" "Blood" "" "0000321214" "00320030" "1" "00008" "00008" "2020-11-19 10:13:34" "" "" "DGGE; SEQ" "DNA" "Blood" "" "0000326709" "00325498" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000327897" "00326684" "1" "00008" "00008" "2021-01-14 12:28:06" "" "" "DHPLC" "DNA" "blood" "" "0000329547" "00328332" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329623" "00328409" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000329624" "00328410" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES" "0000333725" "00332501" "1" "00000" "00006" "2021-02-19 16:33:37" "" "" "SEQ-NG" "DNA" "" "" "0000334578" "00333353" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000334582" "00333357" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000334662" "00333437" "1" "00000" "00006" "2021-02-25 13:46:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000334663" "00333438" "1" "00000" "00006" "2021-02-25 13:46:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000334805" "00333579" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000335078" "00333852" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335203" "00333977" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000336447" "00335218" "1" "00000" "00006" "2021-03-04 14:06:09" "" "" "SEQ-NG" "DNA" "" "212-gene panel" "0000336527" "00335298" "1" "02485" "00006" "2021-03-04 16:18:39" "" "" "SEQ-NG" "DNA" "" "68-gene panel" "0000336538" "00335309" "1" "02485" "00006" "2021-03-04 16:18:39" "" "" "SEQ-NG" "DNA" "" "68-gene panel" "0000336643" "00335414" "1" "00000" "00006" "2021-03-05 16:19:42" "" "" "SEQ-NG" "DNA" "" "283-gene panel" "0000336795" "00335567" "1" "00000" "00006" "2021-03-07 17:58:39" "" "" "arraySNP;SEQ" "DNA" "" "" "0000336796" "00335568" "1" "00000" "00006" "2021-03-07 17:58:39" "" "" "SEQ-NG" "DNA" "" "WES" "0000336797" "00335569" "1" "00000" "00006" "2021-03-07 17:58:39" "" "" "SEQ-NG" "DNA" "" "WES" "0000336798" "00335570" "1" "00000" "00006" "2021-03-07 17:58:39" "" "" "SEQ-NG" "DNA" "" "WES" "0000336799" "00335571" "1" "00000" "00006" "2021-03-07 17:58:39" "" "" "SEQ" "DNA" "" "" "0000336876" "00335648" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000336877" "00335649" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000336878" "00335650" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000336879" "00335651" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000336880" "00335652" "1" "00008" "00008" "2021-03-07 20:43:50" "" "" "SEQ" "DNA" "" "" "0000336961" "00335732" "1" "00000" "00006" "2021-03-08 18:54:41" "" "" "SEQ-NG" "DNA" "" "31-gene panel" "0000336962" "00335733" "1" "00000" "00006" "2021-03-08 18:54:41" "" "" "SEQ-NG" "DNA" "" "31-gene panel" "0000359963" "00358733" "1" "00000" "00006" "2021-03-11 13:59:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000360026" "00358796" "1" "00000" "00006" "2021-03-12 09:26:03" "" "" "SEQ-NG" "DNA" "" "226-gene panel" "0000360162" "00358929" "1" "00000" "00006" "2021-03-17 15:00:07" "" "" "SEQ-NG" "DNA" "" "WES" "0000360344" "00359106" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360396" "00359158" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360405" "00359167" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360419" "00359181" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360560" "00359319" "1" "00000" "00006" "2021-03-19 13:20:32" "" "" "SEQ-NG" "DNA" "" "105-gene panel" "0000360613" "00359371" "1" "00000" "00006" "2021-03-19 18:50:51" "" "" "SEQ-NG" "DNA" "" "64-gene panel" "0000363491" "00362262" "1" "02404" "02404" "2021-04-18 12:19:28" "" "" "SEQ-NG-I" "DNA" "" "Exome sequencing" "0000364617" "00363389" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000364737" "00363509" "1" "00000" "00006" "2021-04-29 10:58:03" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373868" "00372636" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373869" "00372637" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373870" "00372638" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000374717" "00373482" "1" "00000" "00006" "2021-05-14 16:56:19" "" "" "SEQ-NG" "DNA" "" "73-gene panel" "0000374722" "00373487" "1" "00000" "00006" "2021-05-14 16:56:19" "" "" "SEQ-NG" "DNA" "" "73-gene panel" "0000375166" "00373934" "1" "00000" "00006" "2021-05-21 15:01:30" "" "" "SEQ-NG" "DNA" "" "238-gene panel" "0000377491" "00376295" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "SEQ-NG" "DNA" "blood" "" "0000377980" "00376774" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000378395" "00377190" "1" "00000" "03840" "2021-07-16 14:18:12" "00006" "2021-08-06 16:49:30" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378616" "00377413" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "?" "DNA" "" "various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES" "0000378617" "00377414" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "?" "DNA" "" "various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES" "0000378618" "00377415" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "?" "DNA" "" "various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES" "0000378930" "00377726" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ; SEQ-NG-S" "DNA" "Lymphoblast" "" "0000379018" "00377814" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ" "DNA" "Blood" "" "0000379019" "00377815" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PE" "DNA" "blood" "" "0000379020" "00377816" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PE" "DNA" "blood" "" "0000379021" "00377817" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PE" "DNA" "blood" "" "0000379151" "00377947" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ; SEQ-NG-S" "DNA" "blood" "" "0000379152" "00377948" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ; SEQ-NG-S" "DNA" "blood" "" "0000379153" "00377949" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ; SEQ-NG-S" "DNA" "blood" "" "0000380619" "00379419" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380620" "00379420" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES" "0000380755" "00379556" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "SEQ-NG" "DNA" "blood" "" "0000381065" "00379863" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ-NG" "DNA" "" "panel of 441 hereditary eye disease genes including 291 genes related to IRD" "0000381066" "00379864" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ-NG" "DNA" "" "panel of 441 hereditary eye disease genes including 291 genes related to IRD" "0000381377" "00380175" "1" "00000" "03840" "2021-08-11 10:47:34" "" "" "SEQ-NG" "DNA" "blood" "" "0000382228" "00381014" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ-NG;SEQp" "DNA" "blood" "targeted exon capture/IROme assay" "0000382930" "00381714" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR;SEQ-NG" "DNA" "blood or a saliva sample" "" "0000382991" "00381775" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382992" "00381776" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ;PCR" "DNA" "blood" "" "0000382993" "00381777" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ;PCR" "DNA" "blood" "" "0000383022" "00381806" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR;SEQ-NG" "DNA" "blood or a saliva sample" "" "0000383023" "00381807" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR;SEQ-NG" "DNA" "blood or a saliva sample" "" "0000383131" "00381915" "1" "00000" "03840" "2021-09-06 14:05:57" "" "" "SEQ-NG" "DNA" "blood" "" "0000383796" "00382582" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000384678" "00383453" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study" "0000386238" "00385009" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG;SEQ" "DNA" "" "targeted next-generation sequencing/Sanger sequencing" "0000387516" "00386287" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387789" "00386561" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387814" "00386586" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388020" "00386792" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388031" "00386803" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388066" "00386838" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388217" "00386991" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388218" "00386992" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388219" "00386993" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388220" "00386994" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000390574" "00389331" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390842" "00389599" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET5 targeted sequencing panel - see paper" "0000390843" "00389600" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390904" "00389661" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390910" "00389667" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390911" "00389668" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390924" "00389681" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390942" "00389699" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000390994" "00389751" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET5 targeted sequencing panel - see paper" "0000391213" "00389970" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000391222" "00389979" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000391594" "00390353" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000393379" "00392137" "1" "00000" "03840" "2021-11-21 15:06:43" "" "" "SEQ-NG" "DNA" "blood" "custom panel of 117 IRD-associated genes" "0000393404" "00392162" "1" "00000" "03840" "2021-11-21 15:43:04" "" "" "SEQ-NG" "DNA" "blood" "custom panel of 117 IRD-associated genes" "0000393513" "00392271" "1" "00000" "03840" "2021-11-22 09:44:22" "" "" "SEQ-NG" "DNA" "blood" "targeted next-generation sequencing" "0000393559" "00392317" "1" "00000" "03840" "2021-11-22 16:18:49" "" "" "SEQ-NG" "DNA" "blood" "gene panel testing" "0000393580" "00392338" "1" "00000" "03840" "2021-11-22 16:18:49" "" "" "SEQ-NG" "DNA" "blood" "gene panel testing" "0000393600" "00392358" "1" "00000" "03840" "2021-11-22 16:18:49" "" "" "SEQ-NG" "DNA" "blood" "gene panel testing" "0000393611" "00392369" "1" "00000" "03840" "2021-11-22 16:18:49" "" "" "SEQ-NG" "DNA" "blood" "gene panel testing" "0000393630" "00392388" "1" "00000" "03840" "2021-11-22 16:18:49" "" "" "SEQ-NG" "DNA" "blood" "gene panel testing" "0000393839" "00392592" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000393882" "00392635" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000394755" "00393507" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394829" "00393581" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395582" "00394335" "1" "00000" "03840" "2021-12-01 10:17:04" "" "" "SEQ-NG" "DNA" "" "retrospective analysis" "0000395739" "00394492" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395740" "00394493" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395741" "00394494" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395742" "00394495" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395743" "00394496" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395744" "00394497" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395745" "00394498" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395746" "00394499" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000397092" "00395853" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397171" "00395932" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397728" "00396485" "1" "00000" "03840" "2021-12-16 12:35:05" "" "" "SEQ-NG-I" "DNA" "blood" "panel of 254 genes implicated in retinopathies" "0000397779" "00396536" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000397803" "00396560" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000397877" "00396634" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000397885" "00396642" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000409679" "00408422" "1" "00000" "03840" "2022-04-21 15:58:46" "" "" "SEQ-NG;SEQ" "DNA" "" "targeted gene analysis or a next-generation sequencing-based gene panel" "0000412890" "00411618" "1" "00000" "03840" "2022-06-17 18:03:47" "" "" "ARMS;RFLP" "DNA" "blood" "" "0000412891" "00411619" "1" "00000" "03840" "2022-06-17 18:03:47" "" "" "ARMS;RFLP" "DNA" "blood" "" "0000417583" "00416303" "1" "00000" "03840" "2022-08-26 17:43:20" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000417584" "00416304" "1" "00000" "03840" "2022-08-26 17:43:20" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000417585" "00416305" "1" "00000" "03840" "2022-08-26 17:43:20" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000417586" "00416306" "1" "00000" "03840" "2022-08-26 17:43:20" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000417587" "00416307" "1" "00000" "03840" "2022-08-26 17:43:20" "" "" "SSCA" "DNA" "blood" "" "0000417588" "00416308" "1" "00000" "03840" "2022-08-26 17:43:20" "" "" "SSCA" "DNA" "blood" "" "0000417589" "00416309" "1" "00000" "03840" "2022-08-26 17:43:20" "" "" "SSCA" "DNA" "blood" "" "0000417590" "00416310" "1" "00000" "03840" "2022-08-26 17:43:20" "" "" "SSCA" "DNA" "blood" "" "0000417591" "00416311" "1" "00000" "03840" "2022-08-26 17:43:20" "" "" "SSCA" "DNA" "blood" "" "0000417592" "00416312" "1" "00000" "03840" "2022-08-26 17:43:20" "" "" "SSCA" "DNA" "blood" "" "0000417593" "00416313" "1" "00000" "03840" "2022-08-26 17:43:20" "" "" "SSCA" "DNA" "blood" "" "0000417594" "00416314" "1" "00000" "03840" "2022-08-26 17:43:20" "" "" "SSCA" "DNA" "blood" "" "0000417595" "00416315" "1" "00000" "03840" "2022-08-26 17:43:20" "" "" "SSCA" "DNA" "blood" "" "0000417596" "00416316" "1" "00000" "03840" "2022-08-26 17:43:20" "" "" "SSCA" "DNA" "blood" "" "0000417597" "00416317" "1" "00000" "03840" "2022-08-26 17:43:20" "" "" "SSCA" "DNA" "blood" "" "0000417598" "00416318" "1" "00000" "03840" "2022-08-26 17:43:20" "" "" "SSCA" "DNA" "blood" "" "0000417603" "00416323" "1" "00000" "03840" "2022-08-27 13:26:54" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000417604" "00416324" "1" "00000" "03840" "2022-08-27 13:26:54" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000417605" "00416325" "1" "00000" "03840" "2022-08-27 13:26:54" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000417606" "00416326" "1" "00000" "03840" "2022-08-27 13:26:54" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000417607" "00416327" "1" "00000" "03840" "2022-08-27 13:26:54" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000417608" "00416328" "1" "00000" "03840" "2022-08-27 13:26:54" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000417609" "00416329" "1" "00000" "03840" "2022-08-27 13:26:54" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000417610" "00416330" "1" "00000" "03840" "2022-08-27 13:26:54" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000417611" "00416331" "1" "00000" "03840" "2022-08-27 13:26:54" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000417612" "00416332" "1" "00000" "03840" "2022-08-27 13:26:54" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000417613" "00416333" "1" "00000" "03840" "2022-08-27 13:26:54" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000417614" "00416334" "1" "00000" "03840" "2022-08-27 13:26:54" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000417615" "00416335" "1" "00000" "03840" "2022-08-27 13:26:54" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000417616" "00416336" "1" "00000" "03840" "2022-08-27 13:26:54" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000417617" "00416337" "1" "00000" "03840" "2022-08-27 13:26:54" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000417618" "00416338" "1" "00000" "03840" "2022-08-27 13:26:54" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000417619" "00416339" "1" "00000" "03840" "2022-08-27 13:26:54" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000417620" "00416340" "1" "00000" "03840" "2022-08-27 13:26:54" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000417621" "00416341" "1" "00000" "03840" "2022-08-27 13:26:54" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000417622" "00416342" "1" "00000" "03840" "2022-08-27 14:12:06" "" "" "STR;SEQ" "DNA" "blood" "" "0000417623" "00416343" "1" "00000" "03840" "2022-08-27 14:12:06" "" "" "STR;SEQ" "DNA" "blood" "" "0000417624" "00416344" "1" "00000" "03840" "2022-08-27 14:12:06" "" "" "STR;SEQ" "DNA" "blood" "" "0000417625" "00416345" "1" "00000" "03840" "2022-08-27 14:12:06" "" "" "STR;SEQ" "DNA" "blood" "" "0000417626" "00416346" "1" "00000" "03840" "2022-08-27 14:12:06" "" "" "STR;SEQ" "DNA" "blood" "" "0000417627" "00416347" "1" "00000" "03840" "2022-08-27 15:35:13" "" "" "?" "DNA" "" "" "0000417628" "00416348" "1" "00000" "03840" "2022-08-27 15:35:13" "" "" "?" "DNA" "" "" "0000417629" "00416349" "1" "00000" "03840" "2022-08-27 15:35:13" "" "" "?" "DNA" "" "" "0000417630" "00416350" "1" "00000" "03840" "2022-08-27 15:35:13" "" "" "?" "DNA" "" "" "0000417631" "00416351" "1" "00000" "03840" "2022-08-27 15:35:13" "" "" "?" "DNA" "" "" "0000417632" "00416352" "1" "00000" "03840" "2022-08-27 15:35:13" "" "" "?" "DNA" "" "" "0000417633" "00416353" "1" "00000" "03840" "2022-08-27 17:20:09" "" "" "arraySNP;SEQ" "DNA" "" "" "0000417634" "00416354" "1" "00000" "03840" "2022-08-27 17:20:09" "" "" "arraySNP;SEQ" "DNA" "" "" "0000417635" "00416355" "1" "00000" "03840" "2022-08-27 17:20:09" "" "" "arraySNP;SEQ" "DNA" "" "" "0000417636" "00416356" "1" "00000" "03840" "2022-08-27 17:20:09" "" "" "arraySNP;SEQ" "DNA" "" "" "0000417637" "00416357" "1" "00000" "03840" "2022-08-27 17:20:09" "" "" "arraySNP;SEQ" "DNA" "" "" "0000417638" "00416358" "1" "00000" "03840" "2022-08-27 17:20:09" "" "" "arraySNP;SEQ" "DNA" "" "" "0000417639" "00416359" "1" "00000" "03840" "2022-08-27 17:20:09" "" "" "arraySNP;SEQ" "DNA" "" "" "0000417640" "00416360" "1" "00000" "03840" "2022-08-27 17:20:09" "" "" "arraySNP;SEQ" "DNA" "" "" "0000417641" "00416361" "1" "00000" "03840" "2022-08-27 17:20:09" "" "" "arraySNP;SEQ" "DNA" "" "" "0000417642" "00416362" "1" "00000" "03840" "2022-08-27 17:20:09" "" "" "arraySNP;SEQ" "DNA" "" "" "0000417643" "00416363" "1" "00000" "03840" "2022-08-27 17:20:09" "" "" "arraySNP;SEQ" "DNA" "" "" "0000417644" "00416364" "1" "00000" "03840" "2022-08-27 17:20:09" "" "" "arraySNP;SEQ" "DNA" "" "" "0000417645" "00416365" "1" "00000" "03840" "2022-08-27 17:20:09" "" "" "arraySNP;SEQ" "DNA" "" "" "0000417646" "00416366" "1" "00000" "03840" "2022-08-27 17:20:09" "" "" "arraySNP;SEQ" "DNA" "" "" "0000417647" "00416367" "1" "00000" "03840" "2022-08-28 18:24:22" "" "" "arraySNP;SEQ" "DNA" "" "" "0000417648" "00416368" "1" "00000" "03840" "2022-08-28 18:24:22" "" "" "arraySNP;SEQ" "DNA" "" "" "0000417649" "00416369" "1" "00000" "03840" "2022-08-28 18:24:22" "" "" "arraySNP;SEQ" "DNA" "" "" "0000417650" "00416370" "1" "00000" "03840" "2022-08-28 18:24:22" "" "" "arraySNP;SEQ" "DNA" "" "" "0000417651" "00416371" "1" "00000" "03840" "2022-08-28 18:24:22" "" "" "arraySNP;SEQ" "DNA" "" "" "0000417652" "00416372" "1" "00000" "03840" "2022-08-28 18:24:22" "" "" "arraySNP;SEQ" "DNA" "" "" "0000417653" "00416373" "1" "00000" "03840" "2022-08-28 18:55:53" "" "" "?" "DNA" "blood" "" "0000417654" "00416374" "1" "00000" "03840" "2022-08-28 18:55:53" "" "" "?" "DNA" "blood" "" "0000417655" "00416375" "1" "00000" "03840" "2022-08-28 18:55:53" "" "" "?" "DNA" "blood" "" "0000417656" "00416376" "1" "00000" "03840" "2022-08-28 18:55:53" "" "" "?" "DNA" "blood" "" "0000417657" "00416377" "1" "00000" "03840" "2022-08-28 18:55:53" "" "" "?" "DNA" "blood" "" "0000417660" "00416380" "1" "00000" "03840" "2022-08-29 20:50:03" "" "" "SEQ" "DNA" "" "" "0000417661" "00416381" "1" "00000" "03840" "2022-08-29 20:50:03" "" "" "SEQ" "DNA" "" "" "0000417662" "00416382" "1" "00000" "03840" "2022-08-29 21:19:29" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000417663" "00416383" "1" "00000" "03840" "2022-08-29 21:19:29" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole exome sequencing" "0000417664" "00416384" "1" "00000" "03840" "2022-08-29 21:19:29" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000417665" "00416385" "1" "00000" "03840" "2022-08-29 21:19:29" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000417666" "00416386" "1" "00000" "03840" "2022-08-29 21:19:29" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000417667" "00416387" "1" "00000" "03840" "2022-08-29 21:19:29" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000417668" "00416388" "1" "00000" "03840" "2022-08-29 21:19:29" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000417669" "00416389" "1" "00000" "03840" "2022-08-29 21:19:29" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000417670" "00416390" "1" "00000" "03840" "2022-08-29 21:19:29" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000417671" "00416391" "1" "00000" "03840" "2022-08-29 21:19:29" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000417672" "00416392" "1" "00000" "03840" "2022-08-29 21:19:29" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000417673" "00416393" "1" "00000" "03840" "2022-08-29 21:19:29" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000421713" "00420404" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000421888" "00420579" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000422101" "00420790" "1" "00000" "03840" "2022-11-02 18:49:45" "" "" "SEQ-NG;SEQ" "DNA" "blood" "exome sequencing" "0000422102" "00420791" "1" "00000" "03840" "2022-11-02 18:49:45" "" "" "SEQ-NG;SEQ" "DNA" "blood" "exome sequencing" "0000422103" "00420792" "1" "00000" "03840" "2022-11-02 18:49:45" "" "" "SEQ-NG;SEQ" "DNA" "blood" "exome sequencing" "0000422104" "00420793" "1" "00000" "03840" "2022-11-02 18:49:45" "" "" "SEQ-NG;SEQ" "DNA" "blood" "exome sequencing" "0000422105" "00420794" "1" "00000" "03840" "2022-11-02 18:49:45" "" "" "SEQ-NG;SEQ" "DNA" "blood" "exome sequencing" "0000422106" "00420795" "1" "00000" "03840" "2022-11-02 18:49:45" "" "" "SEQ-NG;SEQ" "DNA" "blood" "exome sequencing" "0000422107" "00420796" "1" "00000" "03840" "2022-11-02 18:49:45" "" "" "SEQ-NG;SEQ" "DNA" "blood" "exome sequencing" "0000422108" "00420797" "1" "00000" "03840" "2022-11-02 18:49:45" "" "" "SEQ-NG;SEQ" "DNA" "blood" "exome sequencing" "0000422109" "00420798" "1" "00000" "03840" "2022-11-02 18:49:45" "" "" "SEQ-NG;SEQ" "DNA" "blood" "exome sequencing" "0000428252" "00426932" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" "0000430911" "00429498" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000430959" "00429546" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431174" "00429761" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431225" "00429812" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431364" "00429951" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000448505" "00446928" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448506" "00446929" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448526" "00446949" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448730" "00447153" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448865" "00447288" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448894" "00447317" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448898" "00447321" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448988" "00447411" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449066" "00447489" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449079" "00447502" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000452031" "00450434" "1" "04695" "04695" "2024-05-27 04:55:32" "" "" "SEQ-NG" "DNA" "" "" "0000453168" "00451567" "1" "04543" "00006" "2024-06-10 15:00:36" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIPs" "0000453169" "00451568" "1" "04543" "00006" "2024-06-10 15:00:36" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIPs" "0000453170" "00451569" "1" "04543" "00006" "2024-06-10 15:00:36" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIPs" "0000453171" "00451570" "1" "04543" "00006" "2024-06-10 15:00:36" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIPs" "0000453172" "00451571" "1" "04543" "00006" "2024-06-10 15:00:36" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIPs" "0000453173" "00451572" "1" "04543" "00006" "2024-06-10 15:00:36" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIPs" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 263 "{{screeningid}}" "{{geneid}}" "0000144825" "EYS" "0000234541" "PRPF8" "0000234542" "PRPF8" "0000234543" "PRPF8" "0000234544" "PRPF8" "0000234545" "PRPF8" "0000234546" "PRPF8" "0000234547" "PRPF8" "0000234548" "PRPF8" "0000234549" "PRPF8" "0000234550" "PRPF8" "0000234551" "PRPF8" "0000234552" "PRPF8" "0000234553" "PRPF8" "0000234554" "PRPF8" "0000234555" "PRPF8" "0000234556" "PRPF8" "0000234557" "PRPF8" "0000234558" "PRPF8" "0000234559" "PRPF8" "0000234560" "PRPF8" "0000234561" "PRPF8" "0000234895" "PRPF8" "0000310458" "PRPF8" "0000310459" "PRPF8" "0000321198" "PRPF8" "0000321200" "PRPF8" "0000321201" "PRPF8" "0000321202" "PRPF8" "0000321203" "PRPF8" "0000321204" "PRPF8" "0000321205" "PRPF8" "0000321206" "PRPF8" "0000321207" "PRPF8" "0000321208" "PRPF8" "0000321209" "PRPF8" "0000321210" "PRPF8" "0000321211" "PRPF8" "0000321212" "PRPF8" "0000321213" "PRPF8" "0000321214" "PRPF8" "0000326709" "PRPF8" "0000327897" "PRPF8" "0000329547" "PRPF8" "0000329623" "PRPF8" "0000329624" "PRPF8" "0000333725" "PRPF8" "0000334578" "ROM1" "0000334582" "RPGR" "0000334805" "PRPF8" "0000335078" "PRPF8" "0000335203" "PRPF8" "0000336447" "PRPF8" "0000336527" "PRPF8" "0000336538" "PRPF8" "0000336643" "PRPF8" "0000336795" "PRPF8" "0000336796" "PRPF8" "0000336797" "PRPF8" "0000336798" "PRPF8" "0000336799" "PRPF8" "0000336876" "PRPF8" "0000336877" "PRPF8" "0000336878" "PRPF8" "0000336879" "PRPF8" "0000336880" "PRPF8" "0000336961" "PRPF8" "0000336962" "PRPF8" "0000359963" "PRPF8" "0000360026" "PRPF8" "0000360162" "PRPF8" "0000360560" "PRPF8" "0000364617" "PRPF8" "0000364737" "PRPF8" "0000374717" "PRPF8" "0000374722" "PRPF8" "0000375166" "PRPF8" "0000377491" "PRPF8" "0000378395" "PRPF8" "0000378616" "PRPF8" "0000378617" "PRPF8" "0000378618" "PRPF8" "0000378930" "PRPF8" "0000379018" "GDF6" "0000379019" "CNGA1" "0000379020" "CRB1" "0000379021" "CRB1" "0000379151" "PRPF8" "0000379152" "PRPF8" "0000379153" "PRPF8" "0000380619" "PRPF8" "0000380620" "PRPF8" "0000380755" "PRPF8" "0000381065" "PRPF8" "0000381066" "PRPF8" "0000381377" "PRPF8" "0000382228" "PRPF8" "0000382930" "PRPF8" "0000382991" "PRPF8" "0000382992" "PRPF8" "0000382993" "PRPF8" "0000383022" "PRPF8" "0000383023" "PRPF8" "0000383131" "PRPF8" "0000383796" "PRPF8" "0000384678" "PRPF8" "0000386238" "PRPF8" "0000387516" "ROM1" "0000387789" "PRPF31" "0000387814" "PRPF8" "0000388020" "PRPF8" "0000388031" "PRPF8" "0000388066" "PRPF8" "0000388217" "PRPF8" "0000388218" "PRPF8" "0000388219" "PRPF8" "0000388220" "PRPF8" "0000390574" "PRPF8" "0000390842" "PRPF8" "0000390843" "PRPF8" "0000390904" "PRPF8" "0000390910" "PRPF8" "0000390911" "PRPF8" "0000390924" "PRPF8" "0000390942" "PRPF8" "0000390994" "PRPF8" "0000391213" "PRPF8" "0000391222" "PRPF8" "0000391594" "PRPF8" "0000393379" "CNGA3" "0000393404" "CNGA3" "0000393513" "PRPF8" "0000393559" "PRPF8" "0000393580" "PRPF8" "0000393600" "PRPF8" "0000393611" "PRPF8" "0000393630" "PRPF8" "0000393839" "PRPF8" "0000393882" "PRPF8" "0000394755" "PRPF8" "0000394829" "PRPF8" "0000395582" "RPE65" "0000395739" "PRPF8" "0000395740" "PRPF8" "0000395741" "PRPF8" "0000395742" "PRPF8" "0000395743" "PRPF8" "0000395744" "PRPF8" "0000395745" "PRPF8" "0000395746" "PRPF8" "0000397092" "PRPF8" "0000397171" "PRPF8" "0000397728" "PRPF8" "0000397779" "CNGA1" "0000397803" "EYS" "0000397877" "IFT140" "0000397885" "EYS" "0000409679" "PRPF8" "0000412890" "PRPF8" "0000412891" "RHO" "0000417583" "PRPF8" "0000417584" "PRPF8" "0000417585" "PRPF8" "0000417586" "PRPF8" "0000417587" "PRPF8" "0000417588" "PRPF8" "0000417589" "PRPF8" "0000417590" "PRPF8" "0000417591" "PRPF8" "0000417592" "PRPF8" "0000417593" "PRPF8" "0000417594" "PRPF8" "0000417595" "PRPF8" "0000417596" "PRPF8" "0000417597" "PRPF8" "0000417598" "PRPF8" "0000417603" "PRPF8" "0000417604" "PRPF8" "0000417605" "PRPF8" "0000417606" "PRPF8" "0000417607" "PRPF8" "0000417608" "PRPF8" "0000417609" "PRPF8" "0000417610" "PRPF8" "0000417611" "PRPF8" "0000417612" "PRPF8" "0000417613" "PRPF8" "0000417614" "PRPF8" "0000417615" "PRPF8" "0000417616" "PRPF8" "0000417617" "PRPF8" "0000417618" "PRPF8" "0000417619" "PRPF8" "0000417620" "PRPF8" "0000417621" "PRPF8" "0000417622" "PRPF8" "0000417623" "PRPF8" "0000417624" "PRPF8" "0000417625" "PRPF8" "0000417626" "PRPF8" "0000417627" "PRPF8" "0000417628" "PRPF8" "0000417629" "PRPF8" "0000417630" "PRPF8" "0000417631" "PRPF8" "0000417632" "PRPF8" "0000417633" "PRPF8" "0000417634" "PRPF8" "0000417635" "PRPF8" "0000417636" "PRPF8" "0000417637" "PRPF8" "0000417638" "PRPF8" "0000417639" "PRPF8" "0000417640" "PRPF8" "0000417641" "PRPF8" "0000417642" "PRPF8" "0000417643" "PRPF8" "0000417644" "PRPF8" "0000417645" "PRPF8" "0000417646" "PRPF8" "0000417647" "PRPF8" "0000417648" "PRPF8" "0000417649" "PRPF8" "0000417650" "PRPF8" "0000417651" "PRPF8" "0000417652" "PRPF8" "0000417653" "PRPF8" "0000417654" "PRPF8" "0000417655" "PRPF8" "0000417656" "PRPF8" "0000417657" "PRPF8" "0000417660" "PRPF8" "0000417661" "PRPF8" "0000417662" "PRPF8" "0000417663" "PRPF8" "0000417664" "PRPF8" "0000417665" "PRPF8" "0000417666" "PRPF8" "0000417667" "PRPF8" "0000417668" "PRPF8" "0000417669" "PRPF8" "0000417670" "PRPF8" "0000417671" "PRPF8" "0000417672" "PRPF8" "0000417673" "PRPF8" "0000421713" "PRPF8" "0000421888" "PRPF8" "0000422101" "PRPF8" "0000422102" "PRPF8" "0000422103" "PRPF8" "0000422104" "PRPF8" "0000422105" "PRPF8" "0000422106" "PRPF8" "0000422107" "PRPF8" "0000422108" "PRPF8" "0000422109" "PRPF8" "0000428252" "PRPF8" "0000430911" "PRPF8" "0000430959" "PRPF8" "0000431174" "PRPF8" "0000431225" "PRPF8" "0000431364" "PRPF8" "0000452031" "PRPF8" ## 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 = 407 "{{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}}" "0000019513" "0" "55" "17" "1554138" "1554138" "del" "0" "00102" "PRPF8_000001" "g.1554138del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.1650844del" "" "VUS" "" "0000247448" "0" "10" "17" "1577951" "1577951" "subst" "0.000232974" "02330" "PRPF8_000016" "g.1577951A>G" "" "" "" "PRPF8(NM_006445.3):c.3084T>C (p.Y1028=), PRPF8(NM_006445.4):c.3084T>C (p.Y1028=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1674657A>G" "" "benign" "" "0000247457" "0" "10" "17" "1580009" "1580009" "subst" "4.06812E-6" "02330" "PRPF8_000017" "g.1580009A>G" "" "" "" "PRPF8(NM_006445.4):c.2182-4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1676715A>G" "" "benign" "" "0000255308" "0" "30" "17" "1554850" "1554850" "subst" "0.000105598" "01943" "PRPF8_000006" "g.1554850A>G" "" "" "" "PRPF8(NM_006445.3):c.6511-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1651556A>G" "" "likely benign" "" "0000294497" "0" "10" "17" "1582890" "1582890" "subst" "0.00148369" "02330" "PRPF8_000019" "g.1582890G>A" "" "" "" "PRPF8(NM_006445.4):c.1289+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1679596G>A" "" "benign" "" "0000294498" "0" "10" "17" "1582722" "1582722" "subst" "4.88083E-5" "02330" "PRPF8_000018" "g.1582722C>G" "" "" "" "PRPF8(NM_006445.4):c.1290-18G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1679428C>G" "" "benign" "" "0000294499" "0" "30" "17" "1565185" "1565185" "subst" "0.000292459" "02330" "PRPF8_000014" "g.1565185T>C" "" "" "" "PRPF8(NM_006445.4):c.4022+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1661891T>C" "" "likely benign" "" "0000294500" "0" "10" "17" "1563804" "1563804" "subst" "0.000836582" "02330" "PRPF8_000012" "g.1563804C>T" "" "" "" "PRPF8(NM_006445.3):c.4707G>A (p.L1569=), PRPF8(NM_006445.4):c.4707G>A (p.L1569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1660510C>T" "" "benign" "" "0000294501" "0" "10" "17" "1563709" "1563709" "subst" "3.24926E-5" "02330" "PRPF8_000011" "g.1563709C>T" "" "" "" "PRPF8(NM_006445.4):c.4785+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1660415C>T" "" "benign" "" "0000294502" "0" "10" "17" "1561844" "1561844" "subst" "0.000934124" "02330" "PRPF8_000010" "g.1561844G>A" "" "" "" "PRPF8(NM_006445.3):c.5352C>T (p.N1784=), PRPF8(NM_006445.4):c.5352C>T (p.N1784=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1658550G>A" "" "benign" "" "0000294503" "0" "10" "17" "1559926" "1559926" "subst" "0.0020556" "02330" "PRPF8_000007" "g.1559926C>G" "" "" "" "PRPF8(NM_006445.4):c.5619+16G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1656632C>G" "" "benign" "" "0000294504" "0" "50" "17" "1554112" "1554112" "subst" "0" "02330" "PRPF8_000002" "g.1554112T>A" "" "" "" "PRPF8(NM_006445.4):c.6992A>T (p.E2331V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1650818T>A" "" "VUS" "" "0000306474" "0" "30" "17" "1576786" "1576786" "subst" "8.12163E-6" "01943" "PRPF8_000015" "g.1576786G>A" "" "" "" "PRPF8(NM_006445.3):c.3522C>T (p.F1174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1673492G>A" "" "likely benign" "" "0000306475" "0" "30" "17" "1564328" "1564328" "subst" "0.00437378" "01943" "PRPF8_000013" "g.1564328G>A" "" "" "" "PRPF8(NM_006445.3):c.4467C>T (p.L1489=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1661034G>A" "" "likely benign" "" "0000306476" "0" "30" "17" "1563804" "1563804" "subst" "0.000836582" "01943" "PRPF8_000012" "g.1563804C>T" "" "" "" "PRPF8(NM_006445.3):c.4707G>A (p.L1569=), PRPF8(NM_006445.4):c.4707G>A (p.L1569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1660510C>T" "" "likely benign" "" "0000306477" "0" "50" "17" "1561674" "1561674" "subst" "0" "01943" "PRPF8_000009" "g.1561674G>T" "" "" "" "PRPF8(NM_006445.3):c.5378C>A (p.T1793N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1658380G>T" "" "VUS" "" "0000306478" "0" "10" "17" "1561640" "1561640" "subst" "0.00112478" "01943" "PRPF8_000008" "g.1561640G>A" "" "" "" "PRPF8(NM_006445.3):c.5412C>T (p.N1804=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1658346G>A" "" "benign" "" "0000306479" "0" "30" "17" "1554728" "1554728" "subst" "5.685E-5" "01943" "PRPF8_000005" "g.1554728C>T" "" "" "" "PRPF8(NM_006445.3):c.6630G>A (p.K2210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1651434C>T" "" "likely benign" "" "0000306480" "0" "90" "17" "1554178" "1554178" "subst" "0" "01943" "PRPF8_000004" "g.1554178T>C" "" "" "" "PRPF8(NM_006445.3):c.6926A>G (p.H2309R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1650884T>C" "" "pathogenic" "" "0000306481" "0" "50" "17" "1554166" "1554166" "subst" "0" "01943" "PRPF8_000003" "g.1554166T>C" "" "" "" "PRPF8(NM_006445.3):c.6938A>G (p.H2313R), PRPF8(NM_006445.4):c.6938A>G (p.H2313R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1650872T>C" "" "VUS" "" "0000307094" "0" "50" "17" "1552537" "1552537" "subst" "0" "01943" "RILP_000001" "g.1552537G>C" "" "" "" "RILP(NM_031430.2):c.386C>G (p.A129G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1649243G>C" "" "VUS" "" "0000339183" "0" "70" "17" "1554098" "1554098" "subst" "0" "02327" "PRPF8_000020" "g.1554098A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1650804A>G" "" "likely pathogenic" "" "0000342166" "0" "90" "17" "1558827" "1558827" "subst" "0" "02327" "PRPF8_000023" "g.1558827C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1655533C>T" "" "pathogenic" "" "0000342327" "0" "70" "17" "1554175" "1554175" "subst" "0" "02327" "PRPF8_000022" "g.1554175C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1650881C>T" "" "likely pathogenic" "" "0000347994" "0" "50" "17" "1554162" "1554162" "subst" "0" "02327" "PRPF8_000021" "g.1554162G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1650868G>T" "" "VUS" "" "0000438549" "0" "90" "17" "1554986" "1554986" "subst" "0" "01244" "PRPF8_000025" "g.1554986T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1651692T>G" "" "pathogenic" "" "0000438565" "0" "90" "17" "1554174" "1554174" "subst" "0" "01244" "PRPF8_000024" "g.1554174C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1650880C>G" "" "pathogenic" "" "0000477249" "0" "50" "17" "1554113" "1554113" "subst" "0" "02591" "PRPF8_000026" "g.1554113C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1650819C>T" "" "VUS" "" "0000477250" "0" "90" "17" "1554143" "1554143" "subst" "0" "02591" "PRPF8_000027" "g.1554143G>A" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1650849G>A" "" "pathogenic" "" "0000477251" "0" "90" "17" "1554176" "1554176" "subst" "0" "02591" "PRPF8_000028" "g.1554176T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1650882T>C" "" "pathogenic" "" "0000477252" "0" "50" "17" "1554194" "1554194" "subst" "0" "02591" "PRPF8_000029" "g.1554194A>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1650900A>C" "" "VUS" "" "0000477253" "0" "90" "17" "1554477" "1554477" "subst" "0" "02591" "PRPF8_000030" "g.1554477G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1651183G>A" "" "pathogenic" "" "0000477254" "0" "90" "17" "1558641" "1558644" "del" "0" "02591" "PRPF8_000031" "g.1558641_1558644del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1655347_1655350del" "" "pathogenic" "" "0000477255" "0" "50" "17" "1562847" "1562847" "subst" "4.47861E-5" "02591" "PRPF8_000032" "g.1562847G>A" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs190909610" "0" "" "" "g.1659553G>A" "" "VUS" "" "0000477256" "0" "50" "17" "1565338" "1565338" "subst" "0" "02591" "PRPF8_000033" "g.1565338A>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1662044A>G" "" "VUS" "" "0000477257" "0" "50" "17" "1576695" "1576695" "subst" "0" "02591" "PRPF8_000034" "g.1576695C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1673401C>T" "" "VUS" "" "0000477258" "0" "50" "17" "1576785" "1576785" "subst" "0" "02591" "PRPF8_000035" "g.1576785C>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1673491C>G" "" "VUS" "" "0000477259" "0" "50" "17" "1577755" "1577755" "subst" "1.62501E-5" "02591" "PRPF8_000036" "g.1577755G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1674461G>A" "" "VUS" "" "0000477260" "0" "50" "17" "1583050" "1583050" "subst" "1.62578E-5" "02591" "PRPF8_000037" "g.1583050G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs745441870" "0" "" "" "g.1679756G>A" "" "VUS" "" "0000477261" "0" "50" "17" "1584244" "1584244" "subst" "4.06055E-6" "02591" "PRPF8_000038" "g.1584244G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1680950G>A" "" "VUS" "" "0000477262" "0" "50" "17" "1584250" "1584250" "subst" "3.24844E-5" "02591" "PRPF8_000039" "g.1584250T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs953338" "0" "" "" "g.1680956T>C" "" "VUS" "" "0000477263" "0" "50" "17" "1584258" "1584258" "subst" "0" "02591" "PRPF8_000040" "g.1584258C>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1680964C>A" "" "VUS" "" "0000477264" "0" "50" "17" "1584353" "1584353" "subst" "1.62692E-5" "02591" "PRPF8_000041" "g.1584353G>A" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs538689803" "0" "" "" "g.1681059G>A" "" "VUS" "" "0000477265" "0" "50" "17" "1584935" "1584935" "subst" "0" "02591" "PRPF8_000042" "g.1584935T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1681641T>C" "" "VUS" "" "0000477266" "0" "50" "17" "1584989" "1584989" "subst" "2.43694E-5" "02591" "PRPF8_000043" "g.1584989G>A" "8/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs143954665" "0" "" "" "g.1681695G>A" "" "VUS" "" "0000477267" "0" "50" "17" "1585142" "1585142" "subst" "0" "02591" "PRPF8_000044" "g.1585142C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1681848C>T" "" "VUS" "" "0000477268" "0" "10" "17" "1586998" "1586998" "subst" "0.0144733" "02591" "PRPF8_000045" "g.1586998G>A" "129/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs75670228" "0" "" "" "g.1683704G>A" "" "benign" "" "0000477269" "0" "50" "17" "1587798" "1587798" "subst" "0" "02591" "PRPF8_000046" "g.1587798T>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1684504T>A" "" "VUS" "" "0000477603" "3" "10" "17" "1586998" "1586998" "subst" "0.0144733" "02591" "PRPF8_000045" "g.1586998G>A" "7/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs75670228" "0" "" "" "g.1683704G>A" "" "benign" "" "0000560333" "0" "50" "17" "1554221" "1554221" "subst" "0" "01943" "PRPF8_000048" "g.1554221C>T" "" "" "" "PRPF8(NM_006445.3):c.6883G>A (p.E2295K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1650927C>T" "" "VUS" "" "0000560335" "0" "10" "17" "1554421" "1554421" "subst" "0.000751495" "02330" "PRPF8_000050" "g.1554421C>T" "" "" "" "PRPF8(NM_006445.4):c.6834G>A (p.S2278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1651127C>T" "" "benign" "" "0000560337" "0" "10" "17" "1554589" "1554589" "subst" "0" "02330" "PRPF8_000052" "g.1554589G>A" "" "" "" "PRPF8(NM_006445.4):c.6666C>T (p.S2222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1651295G>A" "" "benign" "" "0000560339" "0" "10" "17" "1554860" "1554860" "subst" "8.12394E-6" "02330" "PRPF8_000053" "g.1554860A>G" "" "" "" "PRPF8(NM_006445.4):c.6511-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1651566A>G" "" "benign" "" "0000560340" "0" "50" "17" "1554990" "1554990" "subst" "0" "01943" "PRPF8_000054" "g.1554990G>C" "" "" "" "PRPF8(NM_006445.3):c.6462C>G (p.H2154Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1651696G>C" "" "VUS" "" "0000560341" "0" "10" "17" "1555070" "1555070" "subst" "0.000194968" "02330" "PRPF8_000055" "g.1555070G>A" "" "" "" "PRPF8(NM_006445.4):c.6382C>T (p.L2128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1651776G>A" "" "benign" "" "0000560342" "0" "10" "17" "1561583" "1561583" "subst" "0.00134812" "02330" "PRPF8_000056" "g.1561583G>A" "" "" "" "PRPF8(NM_006445.4):c.5469C>T (p.H1823=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1658289G>A" "" "benign" "" "0000560343" "0" "30" "17" "1561844" "1561844" "subst" "0.000934124" "01943" "PRPF8_000010" "g.1561844G>A" "" "" "" "PRPF8(NM_006445.3):c.5352C>T (p.N1784=), PRPF8(NM_006445.4):c.5352C>T (p.N1784=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1658550G>A" "" "likely benign" "" "0000560344" "0" "30" "17" "1562722" "1562722" "subst" "2.84245E-5" "01943" "PRPF8_000057" "g.1562722G>A" "" "" "" "PRPF8(NM_006445.3):c.5067C>T (p.T1689=), PRPF8(NM_006445.4):c.5067C>T (p.T1689=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1659428G>A" "" "likely benign" "" "0000560345" "0" "10" "17" "1564292" "1564292" "subst" "0.000893466" "02330" "PRPF8_000058" "g.1564292A>G" "" "" "" "PRPF8(NM_006445.4):c.4503T>C (p.L1501=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1660998A>G" "" "benign" "" "0000560346" "0" "30" "17" "1564361" "1564361" "subst" "5.27945E-5" "01943" "PRPF8_000059" "g.1564361C>G" "" "" "" "PRPF8(NM_006445.3):c.4434G>C (p.L1478=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1661067C>G" "" "likely benign" "" "0000560347" "0" "10" "17" "1580947" "1580947" "subst" "0.000341983" "02330" "PRPF8_000060" "g.1580947G>A" "" "" "" "PRPF8(NM_006445.3):c.1896C>T (p.A632=), PRPF8(NM_006445.4):c.1896C>T (p.A632=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1677653G>A" "" "benign" "" "0000560348" "0" "10" "17" "1582194" "1582194" "dup" "0" "02330" "PRPF8_000061" "g.1582194dup" "" "" "" "PRPF8(NM_006445.4):c.1600-14dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1678900dup" "" "benign" "" "0000560349" "0" "50" "17" "1582486" "1582486" "subst" "0" "02327" "PRPF8_000062" "g.1582486G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1679192G>A" "" "VUS" "" "0000560350" "0" "10" "17" "1584113" "1584113" "subst" "4.06065E-6" "02330" "PRPF8_000063" "g.1584113G>A" "" "" "" "PRPF8(NM_006445.4):c.1005C>T (p.P335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1680819G>A" "" "benign" "" "0000560351" "0" "10" "17" "1584205" "1584205" "subst" "0.000763384" "02330" "PRPF8_000064" "g.1584205G>T" "" "" "" "PRPF8(NM_006445.4):c.992+18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1680911G>T" "" "benign" "" "0000560352" "0" "50" "17" "1584250" "1584250" "subst" "3.24844E-5" "02330" "PRPF8_000039" "g.1584250T>C" "" "" "" "PRPF8(NM_006445.4):c.965A>G (p.N322S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1680956T>C" "" "VUS" "" "0000560353" "0" "10" "17" "1584948" "1584948" "subst" "0.000592884" "02330" "PRPF8_000065" "g.1584948G>A" "" "" "" "PRPF8(NM_006445.4):c.690C>T (p.F230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1681654G>A" "" "benign" "" "0000560355" "0" "50" "17" "1586941" "1586941" "subst" "0" "02330" "PRPF8_000067" "g.1586941C>A" "" "" "" "PRPF8(NM_006445.4):c.155G>T (p.G52V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1683647C>A" "" "VUS" "" "0000560356" "0" "10" "17" "1587003" "1587003" "subst" "0.000219557" "02330" "PRPF8_000068" "g.1587003G>A" "" "" "" "PRPF8(NM_006445.4):c.101-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1683709G>A" "" "benign" "" "0000560357" "0" "10" "17" "1587828" "1587828" "subst" "9.93451E-5" "02327" "PRPF8_000069" "g.1587828G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1684534G>A" "" "benign" "" "0000616351" "0" "30" "17" "1558733" "1558733" "subst" "4.46668E-5" "02330" "PRPF8_000070" "g.1558733G>A" "" "" "" "PRPF8(NM_006445.4):c.5898C>T (p.H1966=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1655439G>A" "" "likely benign" "" "0000616352" "0" "30" "17" "1558750" "1558750" "subst" "2.84241E-5" "01943" "PRPF8_000071" "g.1558750T>C" "" "" "" "PRPF8(NM_006445.3):c.5881A>G (p.I1961V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1655456T>C" "" "likely benign" "" "0000616353" "0" "30" "17" "1559675" "1559675" "subst" "1.62427E-5" "02330" "PRPF8_000072" "g.1559675G>A" "" "" "" "PRPF8(NM_006445.4):c.5793+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1656381G>A" "" "likely benign" "" "0000616354" "0" "30" "17" "1564028" "1564028" "subst" "0" "02330" "PRPF8_000073" "g.1564028G>A" "" "" "" "PRPF8(NM_006445.4):c.4602C>T (p.F1534=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1660734G>A" "" "likely benign" "" "0000616355" "0" "30" "17" "1576732" "1576732" "subst" "3.65467E-5" "01943" "PRPF8_000074" "g.1576732G>A" "" "" "" "PRPF8(NM_006445.3):c.3576C>T (p.F1192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1673438G>A" "" "likely benign" "" "0000616356" "0" "50" "17" "1584145" "1584145" "subst" "0" "02330" "PRPF8_000075" "g.1584145C>T" "" "" "" "PRPF8(NM_006445.4):c.993-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1680851C>T" "" "VUS" "" "0000623616" "0" "30" "17" "1584345" "1584345" "subst" "0" "01943" "PRPF8_000076" "g.1584345A>G" "" "" "" "PRPF8(NM_006445.3):c.870T>C (p.D290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1681051A>G" "" "likely benign" "" "0000649494" "1" "30" "17" "1577985" "1577985" "subst" "0.0102798" "03575" "PRPF8_000077" "g.1577985A>C" "19/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "19 heterozygous, no homozygous; {DB:CLININrs11652160}" "Germline" "" "rs11652160" "0" "" "" "g.1674691A>C" "" "likely benign" "" "0000658039" "0" "50" "17" "1580883" "1580883" "subst" "0" "01943" "PRPF8_000078" "g.1580883T>G" "" "" "" "PRPF8(NM_006445.3):c.1960A>C (p.N654H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1677589T>G" "" "VUS" "" "0000680785" "0" "30" "17" "1564106" "1564106" "subst" "0.000225271" "01943" "PRPF8_000079" "g.1564106G>A" "" "" "" "PRPF8(NM_006445.3):c.4524C>T (p.G1508=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680786" "0" "30" "17" "1585105" "1585105" "subst" "0" "01943" "PRPF8_000080" "g.1585105A>C" "" "" "" "PRPF8(NM_006445.3):c.653+9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000685369" "0" "70" "17" "1558827" "1558827" "subst" "0" "00004" "PRPF8_000023" "g.1558827C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000685370" "0" "70" "17" "1577090" "1577092" "del" "0" "00004" "PRPF8_000081" "g.1577090_1577092del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000692260" "0" "30" "17" "1560055" "1560055" "subst" "0.000285165" "01943" "PRPF8_000082" "g.1560055A>G" "" "" "" "PRPF8(NM_006445.3):c.5506T>C (p.L1836=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692261" "0" "30" "17" "1579222" "1579222" "subst" "8.12255E-6" "01943" "PRPF8_000083" "g.1579222C>T" "" "" "" "PRPF8(NM_006445.3):c.2679G>A (p.E893=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692262" "0" "50" "17" "1582052" "1582052" "subst" "1.22698E-5" "01943" "PRPF8_000084" "g.1582052T>C" "" "" "" "PRPF8(NM_006445.3):c.1719+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000704004" "1" "90" "17" "1554098" "1554098" "subst" "0" "00008" "PRPF8_000020" "g.1554098A>G" "" "{PMID:Martínez-Gimeno 2003:12714658}" "" "7006T>C / Stop2336fsX2377" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000704006" "1" "90" "17" "1554176" "1554176" "subst" "0" "00008" "PRPF8_000028" "g.1554176T>C" "" "{PMID:Martínez-Gimeno 2003:12714658}" "" "6928A>G / R2310G" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000704007" "1" "90" "17" "1554176" "1554176" "subst" "0" "00008" "PRPF8_000028" "g.1554176T>C" "" "{PMID:Martínez-Gimeno 2003:12714658}" "" "6928A>G / R2310G" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000704008" "1" "90" "17" "1554176" "1554176" "subst" "0" "00008" "PRPF8_000028" "g.1554176T>C" "" "{PMID:Martínez-Gimeno 2003:12714658}" "" "6928A>G / R2310G" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000704009" "1" "90" "17" "1554208" "1554211" "delins" "0" "00008" "PRPF8_000087" "g.1554208_1554211delinsN[7]" "" "{PMID:Martínez-Gimeno 2003:12714658}" "" "6893-6896delins / L2298fsX2337" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000704010" "1" "90" "17" "1554208" "1554211" "delins" "0" "00008" "PRPF8_000087" "g.1554208_1554211delinsN[7]" "" "{PMID:Martínez-Gimeno 2003:12714658}" "" "6893-6896delins / L2298fsX2337" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000704011" "1" "90" "17" "1554110" "1554130" "del" "0" "00008" "PRPF8_000085" "g.1554110_1554130del" "" "{PMID:Martínez-Gimeno 2003:12714658}" "" "6974-6994del / V2325fsX2329" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000704012" "1" "90" "17" "1554110" "1554130" "del" "0" "00008" "PRPF8_000085" "g.1554110_1554130del" "" "{PMID:Martínez-Gimeno 2003:12714658}" "" "6974-6994del / V2325fsX2329" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000704013" "1" "90" "17" "1554110" "1554130" "del" "0" "00008" "PRPF8_000085" "g.1554110_1554130del" "" "{PMID:Martínez-Gimeno 2003:12714658}" "" "6974-6994del / V2325fsX2329" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000704014" "1" "90" "17" "1554110" "1554130" "del" "0" "00008" "PRPF8_000085" "g.1554110_1554130del" "" "{PMID:Martínez-Gimeno 2003:12714658}" "" "6974-6994del / V2325fsX2329" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000704015" "1" "90" "17" "1554110" "1554130" "del" "0" "00008" "PRPF8_000085" "g.1554110_1554130del" "" "{PMID:Martínez-Gimeno 2003:12714658}" "" "6974-6994del / V2325fsX2329" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000704016" "1" "90" "17" "1554110" "1554130" "del" "0" "00008" "PRPF8_000085" "g.1554110_1554130del" "" "{PMID:Martínez-Gimeno 2003:12714658}" "" "6974-6994del / V2325fsX2329" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000704017" "1" "90" "17" "1554161" "1554161" "del" "0" "00008" "PRPF8_000086" "g.1554161del" "" "{PMID:Martínez-Gimeno 2003:12714658}" "" "6943-6944delC / L2315fsX2358" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000704018" "1" "90" "17" "1554161" "1554161" "del" "0" "00008" "PRPF8_000086" "g.1554161del" "" "{PMID:Martínez-Gimeno 2003:12714658}" "" "6943-6944delC / L2315fsX2358" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000704019" "1" "90" "17" "1554161" "1554161" "del" "0" "00008" "PRPF8_000086" "g.1554161del" "" "{PMID:Martínez-Gimeno 2003:12714658}" "" "6943-6944delC / L2315fsX2358" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000704020" "1" "90" "17" "1554161" "1554161" "del" "0" "00008" "PRPF8_000086" "g.1554161del" "" "{PMID:Martínez-Gimeno 2003:12714658}" "" "6943-6944delC / L2315fsX2358" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000710301" "1" "90" "17" "1554176" "1554176" "subst" "0" "00006" "PRPF8_000028" "g.1554176T>C" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "" "Germline" "" "" "0" "" "" "g.1650882T>C" "" "pathogenic" "" "0000711690" "1" "70" "17" "1554203" "1554203" "subst" "0" "00008" "PRPF8_000088" "g.1554203G>A" "" "{PMID:Ziviello 2005:15994872}" "" "P2301S" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000713670" "0" "90" "17" "1554176" "1554176" "subst" "0" "00000" "PRPF8_000028" "g.1554176T>C" "" "{PMID:Carss 2017:28041643}" "" "17:1554176T>C ENST00000572621.1:c.6928A>G (Arg2310Gly)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000713971" "1" "70" "17" "1554742" "1554742" "subst" "0" "00000" "PRPF8_000089" "g.1554742A>G" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.1651448A>G" "" "likely pathogenic (dominant)" "" "0000713972" "1" "70" "17" "1556858" "1556858" "subst" "0" "00000" "PRPF8_000090" "g.1556858C>T" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.1653564C>T" "" "likely pathogenic (dominant)" "" "0000726184" "0" "50" "17" "1557179" "1557179" "subst" "4.06072E-6" "01943" "PRPF8_000091" "g.1557179G>A" "" "" "" "PRPF8(NM_006445.3):c.6119C>T (p.T2040M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726185" "0" "50" "17" "1578954" "1578954" "subst" "0" "02330" "PRPF8_000092" "g.1578954G>C" "" "" "" "PRPF8(NM_006445.4):c.2832C>G (p.D944E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000731488" "1" "90" "17" "1554982" "1554982" "subst" "0" "00000" "PRPF8_000093" "g.1554982A>T" "" "{PMID:Avela 2018:29068140}" "" "" "" "Germline" "" "" "0" "" "" "g.1651688A>T" "" "pathogenic (dominant)" "" "0000732457" "0" "50" "17" "1584930" "1584930" "subst" "1.21819E-5" "00000" "PRPF8_000096" "g.1584930C>T" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.1681636C>T" "" "VUS" "" "0000732474" "3" "50" "17" "1563804" "1563804" "subst" "0.000836582" "00000" "PRPF8_000012" "g.1563804C>T" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.1660510C>T" "" "VUS" "" "0000732636" "0" "90" "17" "1559687" "1559687" "subst" "0" "00000" "PRPF8_000095" "g.1559687G>A" "" "{PMID:Jones 2017:28761320}" "" "" "" "Germline" "" "" "0" "" "" "g.1656393G>A" "" "pathogenic" "" "0000732650" "0" "90" "17" "1559687" "1559687" "subst" "0" "00000" "PRPF8_000095" "g.1559687G>A" "" "{PMID:Jones 2017:28761320}" "" "" "" "Germline" "" "" "0" "" "" "g.1656393G>A" "" "pathogenic" "" "0000732812" "0" "70" "17" "1559687" "1559687" "subst" "0" "00000" "PRPF8_000095" "g.1559687G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.1656393G>A" "" "likely pathogenic" "" "0000733087" "0" "70" "17" "1554140" "1554140" "subst" "0" "00000" "PRPF8_000094" "g.1554140C>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "De novo" "" "" "0" "" "" "g.1650846C>A" "" "likely pathogenic" "" "0000733212" "0" "70" "17" "1559687" "1559687" "subst" "0" "00000" "PRPF8_000095" "g.1559687G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "De novo" "" "" "0" "" "" "g.1656393G>A" "" "likely pathogenic" "" "0000735822" "0" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000004" "g.1554178T>C" "" "{PMID:Riera 2017:28181551}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1650884T>C" "" "likely pathogenic" "" "0000735923" "0" "70" "17" "1554111" "1554111" "dup" "0" "02485" "PRPF8_000097" "g.1554111dup" "" "{PMID:Bravo-Gil 2017:28157192}" "" "c.6994dupG" "" "De novo" "yes" "" "0" "" "" "g.1650817dup" "" "likely pathogenic" "" "0000735934" "0" "70" "17" "1554178" "1554178" "subst" "0" "02485" "PRPF8_000004" "g.1554178T>C" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Germline" "" "" "0" "" "" "g.1650884T>C" "" "likely pathogenic" "" "0000736088" "0" "70" "17" "1556880" "1556880" "subst" "0" "00000" "PRPF8_000103" "g.1556880T>C" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.1653586T>C" "" "likely pathogenic" "" "0000736331" "1" "70" "17" "1554415" "1554415" "subst" "0" "00000" "PRPF8_000101" "g.1554415G>T" "" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1651121G>T" "" "likely pathogenic (dominant)" "ACMG" "0000736332" "1" "90" "17" "1554192" "1554192" "subst" "0" "00000" "PRPF8_000100" "g.1554192G>C" "" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Germline" "" "" "0" "" "" "g.1650898G>C" "" "pathogenic (dominant)" "ACMG" "0000736333" "1" "90" "17" "1554192" "1554192" "subst" "0" "00000" "PRPF8_000100" "g.1554192G>C" "" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Germline" "" "" "0" "" "" "g.1650898G>C" "" "pathogenic (dominant)" "ACMG" "0000736334" "1" "90" "17" "1554140" "1554140" "subst" "0" "00000" "PRPF8_000094" "g.1554140C>A" "" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1650846C>A" "" "pathogenic (dominant)" "ACMG" "0000736335" "1" "90" "17" "1554098" "1554098" "subst" "0" "00000" "PRPF8_000020" "g.1554098A>G" "" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1650804A>G" "" "pathogenic (dominant)" "ACMG" "0000736414" "1" "90" "17" "1554192" "1554192" "subst" "0" "00008" "PRPF8_000100" "g.1554192G>C" "" "{PMID:Sullivan 2006:16799052}" "" "6912C>G" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000736415" "1" "90" "17" "1554176" "1554176" "subst" "0" "00008" "PRPF8_000028" "g.1554176T>C" "" "{PMID:Sullivan 2006:16799052}" "" "6928A>G" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000736416" "1" "90" "17" "1554113" "1554113" "del" "0" "00008" "PRPF8_000098" "g.1554113delC" "" "{PMID:Sullivan 2006:16799052}" "" "6991delG" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000736417" "1" "70" "17" "1554608" "1554608" "subst" "0" "00008" "PRPF8_000102" "g.1554608C>T" "" "{PMID:Sullivan 2006:16799052}" "" "IVS41-4G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000736418" "1" "70" "17" "1554121" "1554121" "subst" "1.62471E-5" "00008" "PRPF8_000099" "g.1554121G>A" "" "{PMID:Sullivan 2006:16799052}" "" "6983C>T" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000736501" "1" "90" "17" "1554116" "1554136" "del" "0" "00000" "PRPF8_000085" "g.1554116_1554136del" "" "{PMID:Ezquerra-Inchausti 2017:28045043}" "" "Val2325_Glu2330del)" "" "Germline" "" "" "0" "" "" "g.1650822_1650842del" "" "pathogenic (dominant)" "" "0000736502" "1" "90" "17" "1554159" "1554159" "del" "0" "00000" "PRPF8_000104" "g.1554159del" "" "{PMID:Ezquerra-Inchausti 2017:28045043}" "" "6945delG" "" "Germline" "" "" "0" "" "" "g.1650865del" "" "pathogenic (dominant)" "" "0000759594" "1" "90" "17" "1554174" "1554174" "subst" "0" "00000" "PRPF8_000024" "g.1554174C>G" "" "{PMID:Carrigan 2016:27624628}" "" "" "" "Germline" "" "" "0" "" "" "g.1650880C>G" "" "pathogenic" "" "0000759668" "0" "70" "17" "1562748" "1562748" "subst" "0" "00000" "PRPF8_000105" "g.1562748G>A" "" "{PMID:Zhang 2016:27596865}" "" "c.C5041T" "" "Germline" "" "" "0" "" "" "g.1659454G>A" "" "likely pathogenic" "ACMG" "0000759889" "1" "70" "17" "1554104" "1554104" "dup" "0" "00000" "PRPF8_000106" "g.1554104dup" "" "{PMID:Tiwari 2016:27391102}" "" "" "" "Germline" "" "" "0" "" "" "g.1650810dup" "" "likely pathogenic (dominant)" "" "0000760236" "0" "50" "17" "1564976" "1564976" "subst" "3.658E-5" "00000" "PRPF8_000107" "g.1564976G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.1661682G>A" "" "VUS" "" "0000760288" "0" "50" "17" "1565312" "1565316" "del" "0" "00000" "PRPF8_000108" "g.1565312_1565316del" "" "{PMID:Ellingford 2016:27208204}" "" "3910_3914delAACTC" "" "Germline" "" "" "0" "" "" "g.1662018_1662022del" "" "VUS" "" "0000760297" "0" "50" "17" "1554143" "1554143" "subst" "0" "00000" "PRPF8_000027" "g.1554143G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.1650849G>A" "" "VUS" "" "0000760311" "0" "50" "17" "1554982" "1554982" "subst" "0" "00000" "PRPF8_000093" "g.1554982A>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.1651688A>T" "" "VUS" "" "0000760592" "1" "90" "17" "1558827" "1558827" "subst" "0" "00000" "PRPF8_000023" "g.1558827C>T" "" "{PMID:Khan 2017:27160483}" "" "" "" "Germline" "" "" "0" "" "" "g.1655533C>T" "" "pathogenic" "" "0000760655" "1" "90" "17" "1554111" "1554111" "dup" "0" "00000" "PRPF8_000097" "g.1554111dup" "" "{PMID:Bravo-Gil 2016:27032803}" "" "6994dupG" "" "Germline" "" "" "0" "" "" "g.1650817dup" "" "pathogenic" "" "0000764184" "0" "50" "17" "1554990" "1554990" "subst" "0" "02404" "PRPF8_000109" "g.1554990G>T" "" "{PMID:Bahena 2021:34148116}" "" "" "" "Unknown" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000765482" "1" "70" "17" "1554124" "1554124" "subst" "4.06105E-6" "00000" "PRPF8_000111" "g.1554124G>A" "1/596 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 624 control chromosomes" "Germline" "" "" "0" "" "" "g.1650830G>A" "" "likely pathogenic" "" "0000765641" "0" "70" "17" "1554096" "1554096" "subst" "0" "00000" "PRPF8_000110" "g.1554096T>C" "" "{PMID:Yang 2015:26496393}" "" "" "not in 100 controls" "Germline" "" "" "0" "" "" "g.1650802T>C" "" "likely pathogenic (dominant)" "" "0000784150" "0" "50" "17" "1585312" "1585312" "subst" "0" "00000" "PRPF8_000116" "g.1585312C>G" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.1682018C>G" "" "VUS" "" "0000784181" "0" "90" "17" "1558827" "1558827" "subst" "0" "00000" "PRPF8_000023" "g.1558827C>T" "" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.1655533C>T" "" "pathogenic (dominant)" "" "0000784182" "0" "90" "17" "1554194" "1554194" "subst" "0" "00000" "PRPF8_000113" "g.1554194A>G" "" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.1650900A>G" "" "pathogenic (dominant)" "" "0000784183" "0" "90" "17" "1554119" "1554119" "subst" "0" "00000" "PRPF8_000112" "g.1554119C>T" "" "{PMID:Xu 2014:24938718}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.1650825C>T" "" "pathogenic (dominant)" "" "0000785540" "0" "50" "17" "1554420" "1554420" "subst" "0" "00000" "PRPF8_000114" "g.1554420A>C" "" "{PMID:Fernandez-San Jose 2015:25698705}" "" "" "" "Germline" "" "" "0" "" "" "g.1651126A>C" "" "VUS" "" "0000785545" "0" "30" "17" "1577067" "1577067" "subst" "4.06062E-6" "00000" "PRPF8_000115" "g.1577067A>G" "" "{PMID:Fernandez-San Jose 2015:25698705}" "" "" "" "Germline" "" "" "0" "" "" "g.1673773A>G" "" "likely benign" "" "0000786461" "1" "90" "17" "1558827" "1558827" "subst" "0" "00000" "PRPF8_000023" "g.1558827C>T" "" "{PMID:Consugar 2015:25412400}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1655533C>T" "" "pathogenic (dominant)" "" "0000789849" "0" "70" "17" "1554162" "1554162" "subst" "0" "00000" "PRPF8_000117" "g.1554162G>C" "" "{PMID:Avela 2019:31087526}" "" "c.6942C>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790430" "0" "70" "17" "1554143" "1554143" "subst" "0" "00000" "PRPF8_000027" "g.1554143G>A" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "g.1650849G>A" "" "likely pathogenic" "" "0000791150" "0" "70" "17" "1559687" "1559687" "subst" "0" "00000" "PRPF8_000095" "g.1559687G>A" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "" "" "0" "" "" "g.1656393G>A" "" "likely pathogenic" "ACMG" "0000791465" "0" "70" "17" "1554208" "1554211" "delins" "0" "00000" "PRPF8_000118" "g.1554208_1554211delinsTCTATGG" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.1650914_1650917delinsTCTATGG" "" "likely pathogenic" "" "0000791466" "0" "70" "17" "1554116" "1554136" "del" "0" "00000" "PRPF8_000085" "g.1554116_1554136del" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.1650822_1650842del" "" "likely pathogenic" "" "0000791467" "0" "70" "17" "1554176" "1554176" "subst" "0" "00000" "PRPF8_000028" "g.1554176T>C" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.1650882T>C" "" "likely pathogenic" "" "0000791920" "0" "10" "17" "1588112" "1588112" "subst" "0" "00000" "PRPF8_000123" "g.1588112C>T" "" "{PMID:Bowne 2011:20861475}" "" "c.1-51G>A" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000792039" "0" "50" "17" "1554110" "1554130" "del" "0" "00000" "PRPF8_000120" "g.1554110_1554130del21" "" "{PMID:Gamundi 2008:18412284}" "" "AB007510.1:c.6974_6994del21" "" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000792040" "0" "50" "17" "1554110" "1554130" "del" "0" "00000" "PRPF8_000120" "g.1554110_1554130del21" "" "{PMID:Gamundi 2008:18412284}" "" "AB007510.1:c.6974_6994del21" "" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000792041" "0" "50" "17" "0" "0" "delins" "0" "00000" "PRPF8_000087" "g.?" "" "{PMID:Gamundi 2008:18412284}" "" "AB007510.1:c.6893_6896delins7" "" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000792042" "0" "50" "17" "0" "0" "delins" "0" "00000" "PRPF8_000087" "g.?" "" "{PMID:Gamundi 2008:18412284}" "" "AB007510.1:c.6893_6896delins7" "" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000792236" "3" "50" "17" "1554176" "1554176" "subst" "0" "00000" "PRPF8_000028" "g.1554176T>C" "" "{PMID:Tanackovic 2011:21378395}" "" "p.R2310G" "" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000792237" "3" "50" "17" "1554104" "1554104" "subst" "0" "00000" "PRPF8_000119" "g.1554104A>T" "" "{PMID:Tanackovic 2011:21378395}" "" "p.Y2334N" "" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000792238" "3" "50" "17" "1554176" "1554176" "subst" "0" "00000" "PRPF8_000028" "g.1554176T>C" "" "{PMID:Tanackovic 2011:21378395}" "" "p.R2310G" "" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000792239" "3" "50" "17" "1554104" "1554104" "subst" "0" "00000" "PRPF8_000119" "g.1554104A>T" "" "{PMID:Tanackovic 2011:21378395}" "" "p.Y2334N" "" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000792248" "0" "90" "17" "1554112" "1554112" "subst" "0" "00000" "PRPF8_000121" "g.1554112T>C" "" "{PMID:_Audo-2012:22277662}" "" "c.6992A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000792249" "0" "90" "17" "1554112" "1554112" "subst" "0" "00000" "PRPF8_000121" "g.1554112T>C" "" "{PMID:_Audo-2012:22277662}" "" "c.6992A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000792250" "0" "90" "17" "1554112" "1554112" "subst" "0" "00000" "PRPF8_000121" "g.1554112T>C" "" "{PMID:_Audo-2012:22277662}" "" "c.6992A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000793771" "0" "70" "17" "1554742" "1554742" "subst" "0" "00000" "PRPF8_000089" "g.1554742A>G" "" "{PMID:Zhou-2011:21677794}" "" "c.6616T>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793772" "0" "70" "17" "1556858" "1556858" "subst" "0" "00000" "PRPF8_000090" "g.1556858C>T" "" "{PMID:Zhou-2011:21677794}" "" "c.6347G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793945" "0" "70" "17" "1556866" "1556868" "del" "0" "00000" "PRPF8_000122" "g.1556866_1556868del" "" "{PMID:O\'Sullivan-2012:22581970}" "" "c.6337_6339del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000794360" "0" "90" "17" "1554176" "1554176" "subst" "0" "00000" "PRPF8_000028" "g.1554176T>C" "" "{PMID:Wang 2018:30029497}" "" "NM_006445.3:c.6928A>G, NP_006436.3:p.(Arg2310Gly), NC_000017.10:g.1554176T>C" "" "Germline" "?" "" "0" "" "" "g.1650882T>C" "" "pathogenic" "ACMG" "0000794361" "0" "70" "17" "1554166" "1554166" "subst" "0" "00000" "PRPF8_000003" "g.1554166T>C" "" "{PMID:Wang 2018:30029497}" "" "NM_006445.3:c.6938A>G, NP_006436.3:p.(His2313Arg), NC_000017.10:g.1554166T>C" "" "Germline" "?" "" "0" "" "" "g.1650872T>C" "" "likely pathogenic" "ACMG" "0000794804" "0" "50" "17" "1554420" "1554420" "subst" "0" "00000" "PRPF8_000114" "g.1554420A>C" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "NM_006445, c.6835T>G, p.Trp2279Gly" "" "Germline" "?" "" "0" "" "" "g.1651126A>C" "" "VUS" "" "0000795944" "0" "90" "17" "0" "0" "" "0" "00000" "MYH2_000008" "g.?" "" "{PMID:Schorderet-2013:23484092}" "" "p.PRPF8-E2331X" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000796896" "0" "90" "17" "1554134" "1554134" "del" "0" "00000" "PRPF8_000001" "g.1554134del" "" "{PMID:Wang-2014:24154662}" "" "c.6970delG" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796969" "0" "70" "17" "1554203" "1554203" "subst" "0" "00000" "PRPF8_000088" "g.1554203G>A" "" "{PMID:Sullivan-2013:23950152}" "" "c.6901C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796970" "0" "70" "17" "1554192" "1554192" "subst" "0" "00000" "PRPF8_000100" "g.1554192G>C" "" "{PMID:Sullivan-2013:23950152}" "" "c.6912C>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796971" "0" "70" "17" "1554113" "1554113" "del" "0" "00000" "PRPF8_000124" "g.1554113del" "" "{PMID:Sullivan-2013:23950152}" "" "c.6991delG" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000797006" "0" "50" "17" "1558827" "1558827" "subst" "0" "00000" "PRPF8_000023" "g.1558827C>T" "" "{PMID:Wang-2014:24154662}" "" "c.5804G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000797007" "0" "50" "17" "1564669" "1564669" "subst" "0" "00000" "PRPF8_000125" "g.1564669A>G" "" "{PMID:Wang-2014:24154662}" "" "c.4234T>C" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000797123" "0" "50" "17" "1554990" "1555006" "delins" "0" "00000" "PRPF8_000127" "g.1554990_1555006delinsCATGGTGTGGTGGT" "" "{PMID:Birtel 2018:30543658}" "" "c.6446_6462delinsACCACCACACCATG, p.Pro2149_His2154" "Heterozygous" "Germline" "?" "" "0" "" "" "g.1651696_1651712delinsCATGGTGTGGTGGT" "" "VUS" "ACMG" "0000798054" "0" "50" "17" "1554966" "1554977" "del" "0" "00000" "PRPF8_000126" "g.1554966_1554977del" "" "{PMID:Jespersgaar 2019:30718709}" "" "PRPF8 c.6480_6491del, p.(Gly2161_Pro2164del)" "" "Germline" "?" "" "0" "" "" "g.1651672_1651683del" "" "VUS" "ACMG" "0000807813" "0" "30" "17" "1554094" "1554094" "subst" "0.000296574" "02330" "PRPF8_000128" "g.1554094G>A" "" "" "" "PRPF8(NM_006445.4):c.*2C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807814" "0" "70" "17" "1554418" "1554418" "subst" "0" "02327" "PRPF8_000129" "g.1554418C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000807815" "0" "30" "17" "1576638" "1576638" "subst" "0.000244523" "02330" "PRPF8_000130" "g.1576638G>A" "" "" "" "PRPF8(NM_006445.4):c.3657+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807816" "0" "50" "17" "1578923" "1578923" "subst" "0" "01943" "PRPF8_000131" "g.1578923A>G" "" "" "" "PRPF8(NM_006445.3):c.2863T>C (p.W955R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807817" "0" "30" "17" "1579805" "1579805" "subst" "0.000195085" "01943" "PRPF8_000132" "g.1579805G>A" "" "" "" "PRPF8(NM_006445.3):c.2382C>T (p.Y794=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000811439" "0" "70" "17" "1554176" "1554176" "subst" "0" "00000" "PRPF8_000028" "g.1554176T>C" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.6928A>G p.(Arg2310Gly), Allele 2 Wildtype" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.1650882T>C" "" "likely pathogenic" "" "0000813645" "1" "90" "17" "1554097" "1554097" "subst" "0" "00000" "PRPF8_000133" "g.1554097C>G" "" "{PMID:Xu 2020:31630094}" "" "PRPF8 NM_006445: g.34080G>C, c.7007G>C, p.X2336S" "" "Germline" "yes" "" "0" "" "" "g.1650803C>G" "" "pathogenic" "ACMG" "0000815440" "0" "50" "17" "1585420" "1585420" "subst" "1.62703E-5" "00000" "PRPF8_000134" "g.1585420C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "PRPF8:NM_006445 c.434+3G>A, p.?" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.1682126C>T" "" "VUS" "ACMG" "0000815972" "0" "90" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000004" "g.1554178T>C" "" "{PMID:Zampaglione 2020:32037395}" "" "PRPF8 c.6926A>G, p.His2309Arg" "Located at end of transcript, heterozygous" "Unknown" "?" "" "0" "" "" "g.1650884T>C" "" "pathogenic" "" "0000816178" "0" "50" "17" "1554192" "1554192" "subst" "0" "00000" "PRPF8_000100" "g.1554192G>C" "" "{PMID:Zampaglione 2020:32037395}" "" "PRPF8 c.6912C>G, p.Phe2304Leu" "Located at end of transcript, heterozygous" "Unknown" "?" "" "0" "" "" "g.1650898G>C" "" "VUS" "" "0000816189" "0" "50" "17" "1554162" "1554162" "del" "0" "00000" "PRPF8_000086" "g.1554162del" "" "{PMID:Zampaglione 2020:32037395}" "" "PRPF8 c.6943del, p.Leu2315SerfsTer44" "Located at end of transcript, heterozygous" "Unknown" "?" "" "0" "" "" "g.1650868del" "" "VUS" "" "0000816224" "0" "50" "17" "1561581" "1561581" "subst" "0" "00000" "PRPF8_000136" "g.1561581G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "PRPF8 c.5471C>T, p.Thr1824Met" "heterozygous" "Unknown" "?" "" "0" "" "" "g.1658287G>A" "" "VUS" "" "0000816302" "0" "70" "17" "1554097" "1554097" "subst" "0" "00000" "PRPF8_000133" "g.1554097C>G" "" "{PMID:Zampaglione 2020:32037395}" "" "c.7007G>C, p.Ter2336SerextTer41" "heterozygous" "Unknown" "?" "" "0" "" "" "g.1650803C>G" "" "likely pathogenic" "" "0000816676" "0" "70" "17" "1554192" "1554192" "subst" "0" "00000" "PRPF8_000100" "g.1554192G>C" "" "{PMID:Jauregui 2020:32098976}" "" "PRPF8 c.6912C>G, p.Phe2304Leu" "heterozygous" "Unknown" "?" "" "0" "" "" "g.1650898G>C" "" "likely pathogenic" "" "0000816677" "0" "70" "17" "1558827" "1558827" "subst" "0" "00000" "PRPF8_000023" "g.1558827C>T" "" "{PMID:Jauregui 2020:32098976}" "" "PRPF8 c.5804G>A, p.R1935M" "error in annotation: c.5804G>A casues known p.R1935H and not p.R1935M, heterozygous" "Unknown" "?" "" "0" "" "" "g.1655533C>T" "" "likely pathogenic" "" "0000816678" "0" "70" "17" "1554144" "1554159" "del" "0" "00000" "PRPF8_000135" "g.1554144_1554159del" "" "{PMID:Jauregui 2020:32098976}" "" "PRPF8 c.6947_6962del, p.N2316RfsX38" "heterozygous" "Unknown" "?" "" "0" "" "" "g.1650850_1650865del" "" "likely pathogenic" "" "0000816679" "0" "70" "17" "1554115" "1554115" "del" "0" "00000" "PRPF8_000124" "g.1554115del" "" "{PMID:Jauregui 2020:32098976}" "" "PRPF8 c.6991delG, p.E2331fs" "heterozygous" "Unknown" "?" "" "0" "" "" "g.1650821del" "" "likely pathogenic" "" "0000819919" "1" "70" "17" "1554194" "1554194" "subst" "0" "00000" "PRPF8_000113" "g.1554194A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPF8, variant 1: c.6910T>C/p.F2304L" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.1650900A>G" "" "likely pathogenic" "" "0000820187" "1" "70" "17" "1555075" "1555075" "subst" "0" "00000" "PRPF8_000140" "g.1555075C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPF8, variant 1: c.6377G>A/p.G2126E" "possibly solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.1651781C>T" "" "likely pathogenic" "" "0000820188" "1" "70" "17" "1555075" "1555075" "subst" "0" "00000" "PRPF8_000140" "g.1555075C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPF8, variant 1: c.6377G>A/p.G2126E" "possibly solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.1651781C>T" "" "likely pathogenic" "" "0000820249" "1" "70" "17" "1554175" "1554175" "subst" "0" "00000" "PRPF8_000022" "g.1554175C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPF8, variant 1: c.6929G>A/p.R2310K" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.1650881C>T" "" "likely pathogenic" "" "0000820255" "1" "70" "17" "1554138" "1554138" "dup" "0" "00000" "PRPF8_000137" "g.1554138dup" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPF8, variant 1: c.6970dup/p.E2324Gfs*61" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.1650844dup" "" "likely pathogenic" "" "0000820256" "1" "70" "17" "1554138" "1554138" "dup" "0" "00000" "PRPF8_000137" "g.1554138dup" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPF8, variant 1: c.6970dup/p.E2324Gfs*61" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.1650844dup" "" "likely pathogenic" "" "0000820269" "1" "70" "17" "1554166" "1554166" "subst" "0" "00000" "PRPF8_000003" "g.1554166T>C" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPF8, variant 1: c.6938A>G/p.H2313R" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.1650872T>C" "" "likely pathogenic" "" "0000820287" "1" "70" "17" "1554607" "1554607" "subst" "0" "00000" "PRPF8_000139" "g.1554607G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPF8, variant 1: c.6651-3C>A/p.?" "possibly solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.1651313G>T" "" "likely pathogenic" "" "0000820339" "1" "70" "17" "1558828" "1558828" "subst" "0" "00000" "PRPF8_000141" "g.1558828G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPF8, variant 1: c.5803C>T/p.R1935C" "possibly solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.1655534G>A" "" "likely pathogenic" "" "0000820558" "1" "70" "17" "1558827" "1558827" "subst" "0" "00000" "PRPF8_000023" "g.1558827C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPF8, variant 1: c.5804G>A/p.R1935H" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.1655533C>T" "" "likely pathogenic" "" "0000820567" "1" "70" "17" "1554138" "1554138" "subst" "0" "00000" "PRPF8_000138" "g.1554138C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PRPF8, variant 1: c.6966G>T/p.E2322D" "possibly solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.1650844C>A" "" "likely pathogenic" "" "0000821343" "0" "90" "17" "1554176" "1554176" "subst" "0" "00000" "PRPF8_000028" "g.1554176T>C" "" "{PMID:Turro 2020:32581362}" "" "PRPF8 c.6928A>G, p.Arg2310Gly" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.1650882T>C" "" "pathogenic" "" "0000824122" "0" "90" "17" "1554202" "1554202" "subst" "0" "00000" "PRPF8_000142" "g.1554202G>A" "" "{PMID:Rodriguez Munoz 2021:33411470}" "" "PRPF8 c.6902C>T, p.(Pro2301Leu)" "" "De novo" "yes" "" "0" "" "" "g.1650908G>A" "" "pathogenic" "ACMG" "0000824160" "0" "90" "17" "1554202" "1554202" "subst" "0" "00000" "PRPF8_000142" "g.1554202G>A" "" "{PMID:Rodriguez Munoz 2021:33411470}" "" "PRPF8 c.6902C>T, p.(Pro2301Leu)" "" "De novo" "yes" "" "0" "" "" "g.1650908G>A" "" "pathogenic" "ACMG" "0000824275" "0" "70" "17" "1558827" "1558827" "subst" "0" "00000" "PRPF8_000023" "g.1558827C>T" "" "{PMID:Bell 2021:33494148}" "" "PRPF8 c.5804G>A, p.(Arg1935His)" "heterozygous" "De novo" "yes" "" "0" "" "" "g.1655533C>T" "" "likely pathogenic" "" "0000824336" "0" "90" "17" "1564957" "1564957" "subst" "0" "00000" "PRPF8_000146" "g.1564957G>A" "" "{PMID:Xiao-2021:33598457}" "" "PRPF8 c.4150C>T, p.(R1384W)" "" "Unknown" "yes" "" "0" "" "" "g.1661663G>A" "" "pathogenic" "ACMG" "0000824359" "0" "90" "17" "1554108" "1554108" "del" "0" "00000" "PRPF8_000143" "g.1554108del" "" "{PMID:Xiao-2021:33598457}" "" "PRPF8 c.6997delC, p.(L2333Cfs*26)" "" "Unknown" "yes" "" "0" "" "" "g.1650814del" "" "pathogenic" "ACMG" "0000824380" "0" "90" "17" "1559687" "1559687" "subst" "0" "00000" "PRPF8_000095" "g.1559687G>A" "" "{PMID:Xiao-2021:33598457}" "" "PRPF8 c.5792C>T, p.(T1931M)" "" "Unknown" "yes" "" "0" "" "" "g.1656393G>A" "" "pathogenic" "ACMG" "0000824391" "0" "70" "17" "1554110" "1554110" "subst" "0" "00000" "PRPF8_000144" "g.1554110C>A" "" "{PMID:Xiao-2021:33598457}" "" "PRPF8 c.6994G>T, p.(D2332Y)" "incomplete penetrance in the family" "Unknown" "yes" "" "0" "" "" "g.1650816C>A" "" "likely pathogenic" "ACMG" "0000824411" "0" "90" "17" "1554166" "1554166" "subst" "0" "00000" "PRPF8_000003" "g.1554166T>C" "" "{PMID:Xiao-2021:33598457}" "" "PRPF8 c.6938A>G, p.(H2313R)" "" "Unknown" "yes" "" "0" "" "" "g.1650872T>C" "" "pathogenic" "ACMG" "0000824661" "0" "50" "17" "1582418" "1582418" "subst" "0" "00000" "PRPF8_000147" "g.1582418G>A" "" "{PMID:Ma 2021:33691693}" "" "PRPF8 c.C1492T, p.R498C" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.1679124G>A" "" "VUS" "ACMG" "0000824704" "0" "70" "17" "1554123" "1554123" "dup" "0" "00000" "PRPF8_000145" "g.1554123dup" "" "{PMID:Ma 2021:33691693}" "" "PRPF8 c.6981dupT, p.A2328fs" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.1650829dup" "" "likely pathogenic" "ACMG" "0000825770" "0" "70" "17" "1554176" "1554176" "subst" "0" "00000" "PRPF8_000028" "g.1554176T>C" "" "{PMID:Liu-2020:33090715}" "" "c.6928A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000825877" "0" "70" "17" "1554166" "1554166" "subst" "0" "00000" "PRPF8_000003" "g.1554166T>C" "" "{PMID:Liu-2020:33090715}" "" "c.6938A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000826957" "0" "50" "17" "1587829" "1587829" "subst" "0.000136558" "00000" "PRPF8_000152" "g.1587829G>C" "" "{PMID:Thorsteinsson 2021:33851411}" "" "PRPF8 c.37C>G, p.Pro13Ala" "heterozygous" "Unknown" "?" "" "0" "" "" "g.1684535G>C" "" "VUS" "" "0000827141" "0" "90" "17" "1554119" "1554119" "subst" "0" "00000" "PRPF8_000112" "g.1554119C>T" "" "{PMID:Colombo-2020:33576794}" "" "c.6985G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000827142" "0" "90" "17" "1554103" "1554110" "delins" "0" "00000" "PRPF8_000148" "g.1554103_1554110delinsGAGTAAA" "" "{PMID:Colombo-2020:33576794}" "" "c.6994_7001delinsTTTACTC" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000827143" "0" "90" "17" "1554097" "1554097" "subst" "0" "00000" "PRPF8_000133" "g.1554097C>G" "" "{PMID:Colombo-2020:33576794}" "" "c.7007G>C" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000827144" "0" "90" "17" "1562719" "1562719" "subst" "0" "00000" "PRPF8_000150" "g.1562719G>C" "" "{PMID:Colombo-2020:33576794}" "" "c.5070C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000827145" "0" "90" "17" "1554194" "1554194" "subst" "0" "00000" "PRPF8_000029" "g.1554194A>C" "" "{PMID:Colombo-2020:33576794}" "" "c.6910T>G" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000827146" "0" "90" "17" "1556852" "1556852" "subst" "0" "00000" "PRPF8_000149" "g.1556852G>A" "" "{PMID:Colombo-2020:33576794}" "" "c.6353C>T" "" "Germline" "" "rs387906971" "0" "" "" "" "" "pathogenic (dominant)" "" "0000827147" "0" "90" "17" "1554110" "1554110" "subst" "0" "00000" "PRPF8_000144" "g.1554110C>A" "" "{PMID:Colombo-2020:33576794}" "" "c.6994G>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000827148" "0" "50" "17" "1580340" "1580340" "subst" "0" "00000" "PRPF8_000151" "g.1580340T>G" "" "{PMID:Colombo-2020:33576794}" "" "c.2111A>C" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000828838" "0" "70" "17" "1554121" "1554121" "subst" "1.62471E-5" "00000" "PRPF8_000099" "g.1554121G>A" "" "{PMID:Chen 2021:43360855}" "" "PRPF8 c.[6983C>T];[6983=], V1: c.6983C>T, (p.Ala2328Val)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.1650827G>A" "" "likely pathogenic" "ACMG" "0000828917" "0" "90" "17" "1554162" "1554162" "del" "0" "00000" "PRPF8_000086" "g.1554162del" "" "{PMID:Chen 2021:43360855}" "" "PRPF8 c.[6943del];[6943=], V1: c.6943delC, (p.Leu2315SerfsTer44)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.1650868del" "" "pathogenic" "ACMG" "0000829796" "0" "70" "17" "1556869" "1556871" "del" "0" "00000" "PRPF8_000122" "g.1556869_1556871del" "" "{PMID:Dockery 2017:29099798}" "" "PRPF8 c.6337_6339delAAG, p.Lys2113del" "only novel variants described in detail in the paper; original cohort contained over 750 patients from over 520 pedigrees," "Germline" "yes" "" "0" "" "" "g.1653575_1653577del" "" "likely pathogenic" "" "0000829870" "0" "90" "17" "1559687" "1559687" "subst" "0" "00000" "PRPF8_000095" "g.1559687G>A" "" "{PMID:Numa-2020:33247286}" "" "c.5792C>T:p.T1931M" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000829887" "0" "90" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000153" "g.1554178T>G" "" "{PMID:Numa-2020:33247286}" "" "c.6926A>C:p.H2309P" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000829940" "0" "90" "17" "1554175" "1554175" "subst" "0" "00000" "PRPF8_000022" "g.1554175C>T" "" "{PMID:Numa-2020:33247286}" "" "c.6929G>A:p.R2310K" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000829986" "0" "50" "17" "1556860" "1556860" "subst" "0" "00000" "PRPF8_000154" "g.1556860G>C" "" "{PMID:Numa-2020:33247286}" "" "c.6345C>G:p.I2115M" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000846883" "11" "70" "17" "1554162" "1554162" "subst" "0" "00000" "PRPF8_000117" "g.1554162G>C" "" "{PMID:Avela 2019:31087526}" "" "PRPF8 c.6942C>G , p.(Phe2314Leu)" "heterozygous, also present in affected father" "Germline" "yes" "" "0" "" "" "g.1650868G>C" "" "likely pathogenic" "" "0000854758" "0" "30" "17" "1554743" "1554743" "subst" "4.06078E-6" "01943" "PRPF8_000155" "g.1554743A>G" "" "" "" "PRPF8(NM_006445.3):c.6615T>C (p.S2205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854759" "0" "50" "17" "1561680" "1561680" "subst" "0" "02330" "PRPF8_000157" "g.1561680A>T" "" "" "" "PRPF8(NM_006445.4):c.5377-5T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854760" "0" "30" "17" "1580947" "1580947" "subst" "0.000341983" "01943" "PRPF8_000060" "g.1580947G>A" "" "" "" "PRPF8(NM_006445.3):c.1896C>T (p.A632=), PRPF8(NM_006445.4):c.1896C>T (p.A632=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854761" "0" "30" "17" "1585167" "1585167" "subst" "2.03044E-5" "01943" "PRPF8_000161" "g.1585167G>A" "" "" "" "PRPF8(NM_006445.3):c.600C>T (p.D200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865071" "0" "50" "17" "1554166" "1554166" "subst" "0" "02330" "PRPF8_000003" "g.1554166T>C" "" "" "" "PRPF8(NM_006445.3):c.6938A>G (p.H2313R), PRPF8(NM_006445.4):c.6938A>G (p.H2313R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865072" "0" "30" "17" "1559773" "1559773" "subst" "2.43635E-5" "02330" "PRPF8_000156" "g.1559773G>A" "" "" "" "PRPF8(NM_006445.4):c.5706C>T (p.F1902=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865073" "0" "30" "17" "1576873" "1576873" "subst" "0.000410389" "02330" "PRPF8_000158" "g.1576873G>A" "" "" "" "PRPF8(NM_006445.4):c.3447-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865074" "0" "30" "17" "1577951" "1577951" "subst" "0.000232974" "01943" "PRPF8_000016" "g.1577951A>G" "" "" "" "PRPF8(NM_006445.3):c.3084T>C (p.Y1028=), PRPF8(NM_006445.4):c.3084T>C (p.Y1028=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865075" "0" "70" "17" "1578489" "1578489" "subst" "0" "02327" "PRPF8_000159" "g.1578489G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000865076" "0" "50" "17" "1580264" "1580264" "subst" "0" "01943" "PRPF8_000160" "g.1580264A>G" "" "" "" "PRPF8(NM_006445.3):c.2181+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865077" "0" "50" "17" "1587858" "1587858" "subst" "0" "02330" "PRPF8_000162" "g.1587858C>G" "" "" "" "PRPF8(NM_006445.4):c.8G>C (p.G3A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000870265" "0" "70" "3" "1554176" "1554176" "subst" "0" "00000" "PRPF8_000028" "g.1554176T>C" "" "{PMID:To 2004:15126168}" "" "PRPC8 Arg2310Gly" "heterozygous; no nucleotide annotation, extrapolated from protein and databases" "Unknown" "?" "" "0" "" "" "g.1650882T>C" "" "likely pathogenic (dominant)" "" "0000870266" "21" "70" "3" "1554176" "1554176" "subst" "0" "00000" "PRPF8_000028" "g.1554176T>C" "" "{PMID:To 2004:15126168}" "" "PRPC8 Arg2310Gly" "heterozygous; no nucleotide annotation, extrapolated from protein and databases" "Germline" "yes" "" "0" "" "" "g.1650882T>C" "" "likely pathogenic (dominant)" "" "0000877301" "0" "70" "17" "1554176" "1554176" "subst" "0" "00000" "PRPF8_000028" "g.1554176T>C" "" "De Erkenez 2002" "" "PRPF8 Arg2310Gly (AGG>GGG)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.1650882T>C" "" "likely pathogenic" "" "0000877302" "0" "70" "17" "1554143" "1554143" "subst" "0" "00000" "PRPF8_000027" "g.1554143G>A" "" "De Erkenez 2002" "" "PRPF8 Gln2321End, CAG>TAG" "heterozygous" "Unknown" "?" "" "0" "" "" "g.1650849G>A" "" "likely pathogenic" "" "0000877303" "0" "70" "17" "1554115" "1554115" "del" "0" "00000" "PRPF8_000124" "g.1554115del" "" "De Erkenez 2002" "" "PRPF8 Glu2331, 1-bp del, GAG>-AG" "heterozygous" "Unknown" "?" "" "0" "" "" "g.1650821del" "" "likely pathogenic" "" "0000877304" "0" "70" "17" "1554104" "1554104" "subst" "0" "00000" "PRPF8_000119" "g.1554104A>T" "" "De Erkenez 2002" "" "PRPF8 Tyr2334Asn, TAT>AAT" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1650810A>T" "" "likely pathogenic" "" "0000877305" "0" "70" "17" "1554104" "1554104" "subst" "0" "00000" "PRPF8_000119" "g.1554104A>T" "" "De Erkenez 2002" "" "PRPF8 Tyr2334Asn, TAT>AAT" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1650810A>T" "" "likely pathogenic" "" "0000877306" "0" "70" "17" "1554104" "1554104" "subst" "0" "00000" "PRPF8_000119" "g.1554104A>T" "" "De Erkenez 2002" "" "PRPF8 Tyr2334Asn, TAT>AAT" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1650810A>T" "" "likely pathogenic" "" "0000877307" "0" "70" "17" "1554104" "1554104" "subst" "0" "00000" "PRPF8_000119" "g.1554104A>T" "" "De Erkenez 2002" "" "PRPF8 Tyr2334Asn, TAT>AAT" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1650810A>T" "" "likely pathogenic" "" "0000877308" "0" "70" "17" "1554104" "1554104" "subst" "0" "00000" "PRPF8_000119" "g.1554104A>T" "" "De Erkenez 2002" "" "PRPF8 Tyr2334Asn, TAT>AAT" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1650810A>T" "" "likely pathogenic" "" "0000877309" "0" "70" "17" "1554104" "1554104" "subst" "0" "00000" "PRPF8_000119" "g.1554104A>T" "" "De Erkenez 2002" "" "PRPF8 Tyr2334Asn, TAT>AAT" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1650810A>T" "" "likely pathogenic" "" "0000877310" "0" "70" "17" "1554104" "1554104" "subst" "0" "00000" "PRPF8_000119" "g.1554104A>T" "" "De Erkenez 2002" "" "PRPF8 Tyr2334Asn, TAT>AAT" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1650810A>T" "" "likely pathogenic" "" "0000877311" "0" "70" "17" "1554104" "1554104" "subst" "0" "00000" "PRPF8_000119" "g.1554104A>T" "" "De Erkenez 2002" "" "PRPF8 Tyr2334Asn, TAT>AAT" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1650810A>T" "" "likely pathogenic" "" "0000877312" "0" "70" "17" "1554104" "1554104" "subst" "0" "00000" "PRPF8_000119" "g.1554104A>T" "" "De Erkenez 2002" "" "PRPF8 Tyr2334Asn, TAT>AAT" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1650810A>T" "" "likely pathogenic" "" "0000877313" "0" "70" "17" "1554104" "1554104" "subst" "0" "00000" "PRPF8_000119" "g.1554104A>T" "" "De Erkenez 2002" "" "PRPF8 Tyr2334Asn, TAT>AAT" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1650810A>T" "" "likely pathogenic" "" "0000877314" "0" "70" "17" "1554104" "1554104" "subst" "0" "00000" "PRPF8_000119" "g.1554104A>T" "" "De Erkenez 2002" "" "PRPF8 Tyr2334Asn, TAT>AAT" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1650810A>T" "" "likely pathogenic" "" "0000877315" "0" "70" "17" "1554104" "1554104" "subst" "0" "00000" "PRPF8_000119" "g.1554104A>T" "" "De Erkenez 2002" "" "PRPF8 Tyr2334Asn, TAT>AAT" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1650810A>T" "" "likely pathogenic" "" "0000877316" "0" "70" "17" "1554104" "1554104" "subst" "0" "00000" "PRPF8_000119" "g.1554104A>T" "" "De Erkenez 2002" "" "PRPF8 Tyr2334Asn, TAT>AAT" "heterozygous, incomplete penetrance possible in this case" "Germline" "yes" "" "0" "" "" "g.1650810A>T" "" "likely pathogenic" "" "0000877322" "10" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000153" "g.1554178T>G" "" "{PMID:McKie 2001:11468273}" "" "PRPF8 c.6967A->C, H2309P" "heterozygous; error, probably obsolete nucleotide annotation, shifted by 41 nucleotides, should be c.6926A>C and not c.6967A->C" "Germline" "yes" "" "0" "" "" "g.1650884T>G" "" "likely pathogenic" "" "0000877323" "10" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000153" "g.1554178T>G" "" "{PMID:McKie 2001:11468273}" "" "PRPF8 c.6967A->C, H2309P" "heterozygous; error, probably obsolete nucleotide annotation, shifted by 41 nucleotides, should be c.6926A>C and not c.6967A->C" "Germline" "yes" "" "0" "" "" "g.1650884T>G" "" "likely pathogenic" "" "0000877324" "10" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000153" "g.1554178T>G" "" "{PMID:McKie 2001:11468273}" "" "PRPF8 c.6967A->C, H2309P" "heterozygous; error, probably obsolete nucleotide annotation, shifted by 41 nucleotides, should be c.6926A>C and not c.6967A->C" "Germline" "yes" "" "0" "" "" "g.1650884T>G" "" "likely pathogenic" "" "0000877325" "10" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000153" "g.1554178T>G" "" "{PMID:McKie 2001:11468273}" "" "PRPF8 c.6967A->C, H2309P" "heterozygous; error, probably obsolete nucleotide annotation, shifted by 41 nucleotides, should be c.6926A>C and not c.6967A->C" "Germline" "yes" "" "0" "" "" "g.1650884T>G" "" "likely pathogenic" "" "0000877326" "10" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000153" "g.1554178T>G" "" "{PMID:McKie 2001:11468273}" "" "PRPF8 c.6967A->C, H2309P" "heterozygous; error, probably obsolete nucleotide annotation, shifted by 41 nucleotides, should be c.6926A>C and not c.6967A->C" "Germline" "yes" "" "0" "" "" "g.1650884T>G" "" "likely pathogenic" "" "0000877327" "21" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000153" "g.1554178T>G" "" "{PMID:McKie 2001:11468273}" "" "PRPF8 c.6967A->C, H2309P" "heterozygous; error, probably obsolete nucleotide annotation, shifted by 41 nucleotides, should be c.6926A>C and not c.6967A->C" "Germline" "yes" "" "0" "" "" "g.1650884T>G" "" "likely pathogenic" "" "0000877328" "21" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000153" "g.1554178T>G" "" "{PMID:McKie 2001:11468273}" "" "PRPF8 c.6967A->C, H2309P" "heterozygous; error, probably obsolete nucleotide annotation, shifted by 41 nucleotides, should be c.6926A>C and not c.6967A->C" "Germline" "yes" "" "0" "" "" "g.1650884T>G" "" "likely pathogenic" "" "0000877329" "0" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000004" "g.1554178T>C" "" "{PMID:McKie 2001:11468273}" "" "PRPF8 c.6967A->G, H2309R" "heterozygous; error, probably obsolete nucleotide annotation, shifted by 41 nucleotides, should be c.6926A>G and not c.6967A->G" "Germline" "yes" "" "0" "" "" "g.1650884T>C" "" "likely pathogenic" "" "0000877330" "10" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000004" "g.1554178T>C" "" "{PMID:McKie 2001:11468273}" "" "PRPF8 c.6967A->G, H2309R" "heterozygous; error, probably obsolete nucleotide annotation, shifted by 41 nucleotides, should be c.6926A>G and not c.6967A->G" "Germline" "yes" "" "0" "" "" "g.1650884T>C" "" "likely pathogenic" "" "0000877331" "20" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000004" "g.1554178T>C" "" "{PMID:McKie 2001:11468273}" "" "PRPF8 c.6967A->G, H2309R" "heterozygous; error, probably obsolete nucleotide annotation, shifted by 41 nucleotides, should be c.6926A>G and not c.6967A->G" "Germline" "yes" "" "0" "" "" "g.1650884T>C" "" "likely pathogenic" "" "0000877332" "11" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000004" "g.1554178T>C" "" "{PMID:McKie 2001:11468273}" "" "PRPF8 c.6967A->G, H2309R" "heterozygous; error, probably obsolete nucleotide annotation, shifted by 41 nucleotides, should be c.6926A>G and not c.6967A->G" "Germline" "yes" "" "0" "" "" "g.1650884T>C" "" "likely pathogenic" "" "0000877333" "11" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000004" "g.1554178T>C" "" "{PMID:McKie 2001:11468273}" "" "PRPF8 c.6967A->G, H2309R" "heterozygous; error, probably obsolete nucleotide annotation, shifted by 41 nucleotides, should be c.6926A>G and not c.6967A->G" "Germline" "yes" "" "0" "" "" "g.1650884T>C" "" "likely pathogenic" "" "0000877334" "0" "70" "17" "1554175" "1554175" "subst" "0" "00000" "PRPF8_000022" "g.1554175C>T" "" "{PMID:McKie 2001:11468273}" "" "PRPF8 c.6970G->A, R2310K" "heterozygous; error, probably obsolete nucleotide annotation, shifted by 41 nucleotides, should be c.6929G>A and not c.6970G->A" "Germline" "yes" "" "0" "" "" "g.1650881C>T" "" "likely pathogenic" "" "0000877335" "0" "70" "17" "1554203" "1554203" "subst" "0" "00000" "PRPF8_000021" "g.1554203G>T" "" "{PMID:McKie 2001:11468273}" "" "PRPF8 c.6942C->A, P2301T" "heterozygous; error, probably obsolete nucleotide annotation, shifted by 41 nucleotides, should be c.6901C>A and not c.6942C->A" "Unknown" "?" "" "0" "" "" "g.1650909G>T" "" "likely pathogenic" "" "0000877336" "0" "70" "17" "1554192" "1554192" "subst" "0" "00000" "PRPF8_000100" "g.1554192G>C" "" "{PMID:McKie 2001:11468273}" "" "PRPF8 c.6953C->G, F2304L" "heterozygous; error, probably obsolete nucleotide annotation, shifted by 41 nucleotides, should be c.6912C>G and not c.6953C->G" "Unknown" "?" "" "0" "" "" "g.1650898G>C" "" "likely pathogenic" "" "0000877337" "0" "70" "17" "1554192" "1554192" "subst" "0" "00000" "PRPF8_000100" "g.1554192G>C" "" "{PMID:McKie 2001:11468273}" "" "PRPF8 c.6953C->G, F2304L" "heterozygous; error, probably obsolete nucleotide annotation, shifted by 41 nucleotides, should be c.6912C>G and not c.6953C->G" "Unknown" "?" "" "0" "" "" "g.1650898G>C" "" "likely pathogenic" "" "0000877338" "0" "70" "17" "1554192" "1554192" "subst" "0" "00000" "PRPF8_000100" "g.1554192G>C" "" "{PMID:McKie 2001:11468273}" "" "PRPF8 c.6953C->G, F2304L" "heterozygous; error, probably obsolete nucleotide annotation, shifted by 41 nucleotides, should be c.6912C>G and not c.6953C->G" "Unknown" "?" "" "0" "" "" "g.1650898G>C" "" "likely pathogenic" "" "0000877339" "0" "70" "17" "1554176" "1554176" "subst" "0" "00000" "PRPF8_000028" "g.1554176T>C" "" "{PMID:McKie 2001:11468273}" "" "PRPF8 c.6969A->G, R2310G" "heterozygous; error, probably obsolete nucleotide annotation, shifted by 41 nucleotides, should be c.6928A>G and not c.6969A->G" "Unknown" "?" "" "0" "" "" "g.1650882T>C" "" "likely pathogenic" "" "0000877340" "0" "70" "17" "1554162" "1554162" "subst" "0" "00000" "PRPF8_000021" "g.1554162G>T" "" "{PMID:McKie 2001:11468273}" "" "PRPF8 c.6983C->A, F2314L" "heterozygous; error, probably obsolete nucleotide annotation, shifted by 41 nucleotides, should be c.6942C>A and not c.6983C->A" "Unknown" "?" "" "0" "" "" "g.1650868G>T" "" "likely pathogenic" "" "0000877341" "10" "70" "17" "1554127" "1554132" "delins" "0" "00000" "PRPF8_000163" "g.1554127_1554132delinsAGCAGAGGGTT" "" "{PMID:Kondo 2003:12601059}" "" "PRPF8 6-bp deletion and 11-bp insertion of the coding nucleotides at nucleotides 6972 to 6977, last 11 amino acids (codons 2325 to 2335: VYSADREDLYA) were replaced by a longer putative sequence (TLCSLRIGRTCMPDRFPASCFSLPRPKPQPLQTGR)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1650833_1650838delinsAGCAGAGGGTT" "" "likely pathogenic" "" "0000877342" "10" "70" "17" "1554127" "1554132" "delins" "0" "00000" "PRPF8_000163" "g.1554127_1554132delinsAGCAGAGGGTT" "" "{PMID:Kondo 2003:12601059}" "" "PRPF8 6-bp deletion and 11-bp insertion of the coding nucleotides at nucleotides 6972 to 6977, last 11 amino acids (codons 2325 to 2335: VYSADREDLYA) were replaced by a longer putative sequence (TLCSLRIGRTCMPDRFPASCFSLPRPKPQPLQTGR)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1650833_1650838delinsAGCAGAGGGTT" "" "likely pathogenic" "" "0000877343" "10" "70" "17" "1554127" "1554132" "delins" "0" "00000" "PRPF8_000163" "g.1554127_1554132delinsAGCAGAGGGTT" "" "{PMID:Kondo 2003:12601059}" "" "PRPF8 6-bp deletion and 11-bp insertion of the coding nucleotides at nucleotides 6972 to 6977, last 11 amino acids (codons 2325 to 2335: VYSADREDLYA) were replaced by a longer putative sequence (TLCSLRIGRTCMPDRFPASCFSLPRPKPQPLQTGR)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1650833_1650838delinsAGCAGAGGGTT" "" "likely pathogenic" "" "0000877344" "11" "70" "17" "1554127" "1554132" "delins" "0" "00000" "PRPF8_000163" "g.1554127_1554132delinsAGCAGAGGGTT" "" "{PMID:Kondo 2003:12601059}" "" "PRPF8 6-bp deletion and 11-bp insertion of the coding nucleotides at nucleotides 6972 to 6977, last 11 amino acids (codons 2325 to 2335: VYSADREDLYA) were replaced by a longer putative sequence (TLCSLRIGRTCMPDRFPASCFSLPRPKPQPLQTGR)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1650833_1650838delinsAGCAGAGGGTT" "" "likely pathogenic" "" "0000877345" "11" "70" "17" "1554127" "1554132" "delins" "0" "00000" "PRPF8_000163" "g.1554127_1554132delinsAGCAGAGGGTT" "" "{PMID:Kondo 2003:12601059}" "" "PRPF8 6-bp deletion and 11-bp insertion of the coding nucleotides at nucleotides 6972 to 6977, last 11 amino acids (codons 2325 to 2335: VYSADREDLYA) were replaced by a longer putative sequence (TLCSLRIGRTCMPDRFPASCFSLPRPKPQPLQTGR)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1650833_1650838delinsAGCAGAGGGTT" "" "likely pathogenic" "" "0000877346" "10" "70" "17" "1554203" "1554203" "subst" "0" "00000" "PRPF8_000088" "g.1554203G>A" "" "{PMID:Testa 2006:17061239}" "" "PRPF8 P2301S" "no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.1650909G>A" "" "likely pathogenic" "" "0000877347" "10" "70" "17" "1554203" "1554203" "subst" "0" "00000" "PRPF8_000088" "g.1554203G>A" "" "{PMID:Testa 2006:17061239}" "" "PRPF8 P2301S" "no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.1650909G>A" "" "likely pathogenic" "" "0000877348" "10" "70" "17" "1554203" "1554203" "subst" "0" "00000" "PRPF8_000088" "g.1554203G>A" "" "{PMID:Testa 2006:17061239}" "" "PRPF8 P2301S" "no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.1650909G>A" "" "likely pathogenic" "" "0000877349" "21" "70" "17" "1554203" "1554203" "subst" "0" "00000" "PRPF8_000088" "g.1554203G>A" "" "{PMID:Testa 2006:17061239}" "" "PRPF8 P2301S" "no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.1650909G>A" "" "likely pathogenic" "" "0000877350" "21" "70" "17" "1554203" "1554203" "subst" "0" "00000" "PRPF8_000088" "g.1554203G>A" "" "{PMID:Testa 2006:17061239}" "" "PRPF8 P2301S" "no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.1650909G>A" "" "likely pathogenic" "" "0000877351" "21" "70" "17" "1554203" "1554203" "subst" "0" "00000" "PRPF8_000088" "g.1554203G>A" "" "{PMID:Testa 2006:17061239}" "" "PRPF8 P2301S" "no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.1650909G>A" "" "likely pathogenic" "" "0000877352" "20" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000004" "g.1554178T>C" "" "{PMID:Walia 2008:18695108}" "" "PRPF8 H2309R" "no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.1650884T>C" "" "likely pathogenic" "" "0000877353" "21" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000004" "g.1554178T>C" "" "{PMID:Walia 2008:18695108}" "" "PRPF8 H2309R" "no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.1650884T>C" "" "likely pathogenic" "" "0000877354" "21" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000004" "g.1554178T>C" "" "{PMID:Walia 2008:18695108}" "" "PRPF8 H2309R" "no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.1650884T>C" "" "likely pathogenic" "" "0000877355" "21" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000004" "g.1554178T>C" "" "{PMID:Walia 2008:18695108}" "" "PRPF8 H2309R" "no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.1650884T>C" "" "likely pathogenic" "" "0000877356" "21" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000004" "g.1554178T>C" "" "{PMID:Walia 2008:18695108}" "" "PRPF8 H2309R" "no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.1650884T>C" "" "likely pathogenic" "" "0000877357" "21" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000004" "g.1554178T>C" "" "{PMID:Walia 2008:18695108}" "" "PRPF8 H2309R" "no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.1650884T>C" "" "likely pathogenic" "" "0000877358" "21" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000004" "g.1554178T>C" "" "{PMID:Walia 2008:18695108}" "" "PRPF8 H2309R" "no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.1650884T>C" "" "likely pathogenic" "" "0000877359" "21" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000004" "g.1554178T>C" "" "{PMID:Walia 2008:18695108}" "" "PRPF8 H2309R" "no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.1650884T>C" "" "likely pathogenic" "" "0000877360" "21" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000004" "g.1554178T>C" "" "{PMID:Walia 2008:18695108}" "" "PRPF8 H2309R" "no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.1650884T>C" "" "likely pathogenic" "" "0000877361" "21" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000004" "g.1554178T>C" "" "{PMID:Walia 2008:18695108}" "" "PRPF8 H2309R" "no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.1650884T>C" "" "likely pathogenic" "" "0000877362" "21" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000004" "g.1554178T>C" "" "{PMID:Walia 2008:18695108}" "" "PRPF8 H2309R" "no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.1650884T>C" "" "likely pathogenic" "" "0000877363" "21" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000004" "g.1554178T>C" "" "{PMID:Walia 2008:18695108}" "" "PRPF8 H2309R" "no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.1650884T>C" "" "likely pathogenic" "" "0000877364" "21" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000004" "g.1554178T>C" "" "{PMID:Walia 2008:18695108}" "" "PRPF8 H2309R" "no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.1650884T>C" "" "likely pathogenic" "" "0000877365" "21" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000004" "g.1554178T>C" "" "{PMID:Walia 2008:18695108}" "" "PRPF8 H2309R" "no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.1650884T>C" "" "likely pathogenic" "" "0000877366" "0" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000153" "g.1554178T>G" "" "{PMID:Towns 2010:20232351}" "" "PRPF8 c.6926A>C, H2309P" "heterozygous" "De novo" "?" "" "0" "" "" "g.1650884T>G" "" "likely pathogenic" "" "0000877367" "0" "70" "17" "1554104" "1554104" "subst" "0" "00000" "PRPF8_000119" "g.1554104A>T" "" "{PMID:Towns 2010:20232351}" "" "PRPF8 c.7000T>A, Y2334N" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1650810A>T" "" "likely pathogenic" "" "0000877368" "11" "70" "17" "1554104" "1554104" "subst" "0" "00000" "PRPF8_000119" "g.1554104A>T" "" "{PMID:Towns 2010:20232351}" "" "PRPF8 c.7000T>A, Y2334N" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1650810A>T" "" "likely pathogenic" "" "0000877369" "11" "70" "17" "1554104" "1554104" "subst" "0" "00000" "PRPF8_000119" "g.1554104A>T" "" "{PMID:Towns 2010:20232351}" "" "PRPF8 c.7000T>A, Y2334N" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1650810A>T" "" "likely pathogenic" "" "0000877370" "0" "70" "17" "1554174" "1554174" "subst" "0" "00000" "PRPF8_000024" "g.1554174C>G" "" "{PMID:Towns 2010:20232351}" "" "PRPF8 c.6930G>C, R2310S" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1650880C>G" "" "likely pathogenic" "" "0000877371" "0" "70" "17" "1556852" "1556852" "subst" "0" "00000" "PRPF8_000149" "g.1556852G>A" "" "{PMID:Towns 2010:20232351}" "" "PRPF8 c.6353C>T, S2118F" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1653558G>A" "" "likely pathogenic" "" "0000877372" "0" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000153" "g.1554178T>G" "" "{PMID:Korir 2014:24969741}" "" "PRPF8 H2309R" "splicing quantitative trait loci – sQTLs testing; no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygo" "Unknown" "?" "" "0" "" "" "g.1650884T>G" "" "likely pathogenic" "" "0000877373" "0" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000153" "g.1554178T>G" "" "{PMID:Korir 2014:24969741}" "" "PRPF8 H2309R" "splicing quantitative trait loci – sQTLs testing; no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygo" "Unknown" "?" "" "0" "" "" "g.1650884T>G" "" "likely pathogenic" "" "0000877374" "0" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000153" "g.1554178T>G" "" "{PMID:Korir 2014:24969741}" "" "PRPF8 H2309R" "splicing quantitative trait loci – sQTLs testing; no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygo" "Unknown" "?" "" "0" "" "" "g.1650884T>G" "" "likely pathogenic" "" "0000877375" "0" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000153" "g.1554178T>G" "" "{PMID:Korir 2014:24969741}" "" "PRPF8 H2309R" "splicing quantitative trait loci – sQTLs testing; no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygo" "Unknown" "?" "" "0" "" "" "g.1650884T>G" "" "likely pathogenic" "" "0000877376" "0" "70" "17" "1554178" "1554178" "subst" "0" "00000" "PRPF8_000153" "g.1554178T>G" "" "{PMID:Korir 2014:24969741}" "" "PRPF8 H2309R" "splicing quantitative trait loci – sQTLs testing; no nucleotide annotation, extrapolated from protein, sequence and databases; heterozygo" "Unknown" "?" "" "0" "" "" "g.1650884T>G" "" "likely pathogenic" "" "0000877381" "0" "70" "17" "1554113" "1554113" "subst" "0" "00000" "PRPF8_000164" "g.1554113C>A" "" "{PMID:Escher 2018:29087248}" "" "PRPF8 c.6991G>T, Glu2331*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1650819C>A" "" "likely pathogenic" "" "0000877382" "11" "70" "17" "1554113" "1554113" "subst" "0" "00000" "PRPF8_000164" "g.1554113C>A" "" "{PMID:Escher 2018:29087248}" "" "PRPF8 c.6991G>T, Glu2331*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1650819C>A" "" "likely pathogenic" "" "0000877383" "0" "90" "17" "1578612" "1578612" "subst" "0" "00000" "PRPF8_000165" "g.1578612A>C" "" "{PMID:Micheal 2018:28707069}" "" "PRPF8 c.2894T>G, p.Val965Gly" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1675318A>C" "" "pathogenic" "" "0000877384" "0" "90" "17" "1578612" "1578612" "subst" "0" "00000" "PRPF8_000165" "g.1578612A>C" "" "{PMID:Micheal 2018:28707069}" "" "PRPF8 c.2894T>G, p.Val965Gly" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1675318A>C" "" "pathogenic" "" "0000877385" "0" "90" "17" "1578612" "1578612" "subst" "0" "00000" "PRPF8_000165" "g.1578612A>C" "" "{PMID:Micheal 2018:28707069}" "" "PRPF8 c.2894T>G, p.Val965Gly" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1675318A>C" "" "pathogenic" "" "0000877386" "0" "90" "17" "1578612" "1578612" "subst" "0" "00000" "PRPF8_000165" "g.1578612A>C" "" "{PMID:Micheal 2018:28707069}" "" "PRPF8 c.2894T>G, p.Val965Gly" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1675318A>C" "" "pathogenic" "" "0000877387" "21" "90" "17" "1587828" "1587828" "subst" "9.93451E-5" "00000" "PRPF8_000069" "g.1587828G>A" "" "{PMID:Micheal 2018:28707069}" "" "PRPF8 c.38C>T, p.Pro13Leu" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1684534G>A" "" "pathogenic" "" "0000877388" "0" "90" "17" "1587828" "1587828" "subst" "9.93451E-5" "00000" "PRPF8_000069" "g.1587828G>A" "" "{PMID:Micheal 2018:28707069}" "" "PRPF8 c.38C>T, p.Pro13Leu" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1684534G>A" "" "pathogenic" "" "0000877389" "21" "90" "17" "1587828" "1587828" "subst" "9.93451E-5" "00000" "PRPF8_000069" "g.1587828G>A" "" "{PMID:Micheal 2018:28707069}" "" "PRPF8 c.38C>T, p.Pro13Leu" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1684534G>A" "" "pathogenic" "" "0000877390" "21" "90" "17" "1587828" "1587828" "subst" "9.93451E-5" "00000" "PRPF8_000069" "g.1587828G>A" "" "{PMID:Micheal 2018:28707069}" "" "PRPF8 c.38C>T, p.Pro13Leu" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1684534G>A" "" "pathogenic" "" "0000877391" "21" "90" "17" "1587828" "1587828" "subst" "9.93451E-5" "00000" "PRPF8_000069" "g.1587828G>A" "" "{PMID:Micheal 2018:28707069}" "" "PRPF8 c.38C>T, p.Pro13Leu" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1684534G>A" "" "pathogenic" "" "0000877392" "21" "90" "17" "1587828" "1587828" "subst" "9.93451E-5" "00000" "PRPF8_000069" "g.1587828G>A" "" "{PMID:Micheal 2018:28707069}" "" "PRPF8 c.38C>T, p.Pro13Leu" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1684534G>A" "" "pathogenic" "" "0000877393" "0" "90" "17" "1587792" "1587792" "subst" "2.87817E-5" "00000" "PRPF8_000166" "g.1587792A>G" "" "{PMID:Micheal 2018:28707069}" "" "PRPF8 c.74T>C, p.Met25Thr" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1684498A>G" "" "pathogenic" "" "0000877394" "0" "90" "17" "1587792" "1587792" "subst" "2.87817E-5" "00000" "PRPF8_000166" "g.1587792A>G" "" "{PMID:Micheal 2018:28707069}" "" "PRPF8 c.74T>C, p.Met25Thr" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1684498A>G" "" "pathogenic" "" "0000893353" "0" "30" "17" "1554577" "1554577" "subst" "8.13319E-6" "02327" "PRPF8_000169" "g.1554577C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893354" "0" "30" "17" "1564476" "1564476" "subst" "0.000121846" "02330" "PRPF8_000172" "g.1564476C>T" "" "" "" "PRPF8(NM_006445.4):c.4339-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893355" "0" "30" "17" "1564646" "1564646" "subst" "0" "02330" "PRPF8_000173" "g.1564646G>A" "" "" "" "PRPF8(NM_006445.4):c.4257C>T (p.I1419=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893356" "0" "30" "17" "1565195" "1565195" "subst" "0" "02330" "PRPF8_000174" "g.1565195T>A" "" "" "" "PRPF8(NM_006445.4):c.4022+5A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893357" "0" "70" "17" "1584788" "1584788" "subst" "4.06068E-6" "02327" "PRPF8_000175" "g.1584788G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000893358" "0" "30" "17" "1585164" "1585164" "subst" "0.000276131" "02330" "PRPF8_000176" "g.1585164G>A" "" "" "" "PRPF8(NM_006445.4):c.603C>T (p.A201=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893359" "0" "30" "17" "1585560" "1585560" "subst" "4.06085E-6" "02330" "PRPF8_000177" "g.1585560G>A" "" "" "" "PRPF8(NM_006445.4):c.297C>T (p.V99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896467" "1" "70" "17" "1554121" "1554121" "subst" "1.62471E-5" "00000" "PRPF8_000099" "g.1554121G>A" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0.0000159" "{PMID:Chen 2021:33608557}" "" "PRPF8 c.[6983C>T];[6983=]; p.(Ala2328Val)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1650827G>A" "" "likely pathogenic" "" "0000896722" "1" "90" "17" "1554162" "1554162" "del" "0" "00000" "PRPF8_000086" "g.1554162del" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "PRPF8 c.[6943del];[6943=]; p.(Leu2315SerfsTer44)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1650868del" "" "pathogenic" "" "0000896990" "0" "70" "17" "1559688" "1559688" "subst" "0" "00000" "PRPF8_000171" "g.1559688T>C" "" "{PMID:Wang 2022:35138024}" "" "PRPF8 c.5791A > G, p.(T1931A)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.1656394T>C" "" "likely pathogenic" "ACMG" "0000896991" "21" "70" "17" "1559688" "1559688" "subst" "0" "00000" "PRPF8_000171" "g.1559688T>C" "" "{PMID:Wang 2022:35138024}" "" "PRPF8 c.5791A > G, p.(T1931A)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1656394T>C" "" "likely pathogenic" "ACMG" "0000896992" "0" "70" "17" "1558827" "1558827" "subst" "0" "00000" "PRPF8_000170" "g.1558827C>A" "" "{PMID:Wang 2022:35138024}" "" "PRPF8 c.5804G > T, p.(R1935L)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.1655533C>A" "" "likely pathogenic" "ACMG" "0000896993" "0" "70" "17" "1554177" "1554180" "delins" "0" "00000" "PRPF8_000168" "g.1554177_1554180delinsT" "" "{PMID:Wang 2022:35138024}" "" "PRPF8 c.6924_6927delinsA, p.(H2309del)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.1650883_1650886delinsT" "" "likely pathogenic" "ACMG" "0000896994" "0" "90" "17" "1554143" "1554143" "subst" "0" "00000" "PRPF8_000027" "g.1554143G>A" "" "{PMID:Wang 2022:35138024}" "" "PRPF8 c.6961C > T, p.(Q2321*)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.1650849G>A" "" "pathogenic" "ACMG" "0000896995" "0" "90" "17" "1554119" "1554119" "subst" "0" "00000" "PRPF8_000112" "g.1554119C>T" "" "{PMID:Wang 2022:35138024}" "" "PRPF8 c.6985G > A, p.(D2329N)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.1650825C>T" "" "pathogenic" "ACMG" "0000896996" "11" "90" "17" "1554119" "1554119" "subst" "0" "00000" "PRPF8_000112" "g.1554119C>T" "" "{PMID:Wang 2022:35138024}" "" "PRPF8 c.6985G > A, p.(D2329N)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.1650825C>T" "" "pathogenic" "ACMG" "0000896997" "0" "90" "17" "1554104" "1554107" "del" "0" "00000" "PRPF8_000167" "g.1554104_1554107del" "" "{PMID:Wang 2022:35138024}" "" "PRPF8 c.6997_7000del, p.(L2333Mfs*25)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.1650810_1650813del" "" "pathogenic" "ACMG" "0000896998" "0" "90" "17" "1554096" "1554096" "subst" "0" "00000" "PRPF8_000110" "g.1554096T>C" "" "{PMID:Wang 2022:35138024}" "" "PRPF8 c.7008A > G, p.(*2336Wext*41)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.1650802T>C" "" "pathogenic" "ACMG" "0000905944" "0" "70" "17" "1554154" "1554155" "del" "0" "00000" "PRPF8_000178" "g.1554154_1554155del" "" "{PMID:Zhu 2022:35456422}" "" "PRPF8 c.6950_6951del, p.(Phe2317Cysfs*67)" "heterozygous, probably causal" "Germline/De novo (untested)" "?" "" "0" "" "" "g.1650860_1650861del" "" "likely pathogenic" "ACMG" "0000915802" "0" "70" "17" "1554178" "1554178" "subst" "0" "04436" "PRPF8_000181" "g.1554178T>A" "" "{PMID:Panneman 2023:36819107}" "" "c.6926A>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000915868" "0" "70" "17" "1554103" "1554103" "subst" "0" "04436" "PRPF8_000179" "g.1554103T>C" "" "{PMID:Panneman 2023:36819107}" "" "c.7001A>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916178" "0" "70" "17" "1559687" "1559687" "subst" "0" "04436" "PRPF8_000095" "g.1559687G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.5792C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916265" "0" "70" "17" "1559687" "1559687" "subst" "0" "04436" "PRPF8_000095" "g.1559687G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.5792C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916478" "0" "70" "17" "1554166" "1554166" "subst" "0" "04436" "PRPF8_000180" "g.1554166T>G" "" "{PMID:Panneman 2023:36819107}" "" "c.6938A>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000930693" "0" "50" "17" "1554416" "1554416" "subst" "0" "02327" "PRPF8_000182" "g.1554416T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950803" "0" "30" "17" "1554463" "1554463" "subst" "0.000134046" "02330" "PRPF8_000183" "g.1554463C>T" "" "" "" "PRPF8(NM_006445.4):c.6792G>A (p.S2264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950804" "0" "30" "17" "1579300" "1579300" "subst" "0.00083244" "02330" "PRPF8_000184" "g.1579300G>A" "" "" "" "PRPF8(NM_006445.4):c.2601C>T (p.I867=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000957991" "1" "90" "17" "1554194" "1554194" "subst" "0" "00006" "PRPF8_000113" "g.1554194A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PS1, PP3, PM2, PM1, PP2, PP5" "Germline" "" "" "0" "" "" "g.1650900A>G" "" "pathogenic (dominant)" "ACMG" "0000957992" "1" "90" "17" "1554194" "1554194" "subst" "0" "00006" "PRPF8_000113" "g.1554194A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PS1, PP3, PM2, PM1, PP2, PP5" "Germline" "" "" "0" "" "" "g.1650900A>G" "" "pathogenic (dominant)" "ACMG" "0000958012" "1" "90" "17" "1554138" "1554138" "dup" "0" "00006" "PRPF8_000137" "g.1554138dup" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline" "" "" "0" "" "" "g.1650844dup" "" "pathogenic (dominant)" "ACMG" "0000958351" "0" "90" "17" "1554192" "1554192" "subst" "0" "00006" "PRPF8_000100" "g.1554192G>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PS1, PP3, PM2, PM1, PP2, PP5" "De novo" "" "" "0" "" "" "g.1650898G>C" "" "pathogenic (dominant)" "ACMG" "0000958380" "0" "90" "17" "1554113" "1554113" "subst" "0" "00006" "PRPF8_000026" "g.1554113C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PM1, PP2, PP5_STRONG" "Germline/De novo (untested)" "" "" "0" "" "" "g.1650819C>T" "" "pathogenic (dominant)" "ACMG" "0000958384" "0" "90" "17" "1558827" "1558827" "subst" "0" "00006" "PRPF8_000023" "g.1558827C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PS1_MODERATE, PP3, PM2, PM5_SUPPORTING, PP2, PP5_STRONG" "Germline/De novo (untested)" "" "" "0" "" "" "g.1655533C>T" "546782" "pathogenic (dominant)" "ACMG" "0000958557" "0" "50" "17" "1580945" "1580945" "subst" "0" "00006" "PRPF8_000187" "g.1580945C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP2" "Germline" "" "" "0" "" "" "g.1677651C>T" "" "VUS" "ACMG" "0000958833" "1" "50" "17" "1554417" "1554417" "subst" "0" "00006" "PRPF8_000185" "g.1554417T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2" "Germline" "" "" "0" "" "" "g.1651123T>C" "" "VUS" "ACMG" "0000959206" "0" "50" "17" "1579959" "1579959" "subst" "0" "00006" "PRPF8_000186" "g.1579959A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP2" "Germline" "" "" "0" "" "" "g.1676665A>G" "" "VUS" "ACMG" "0000959278" "0" "50" "17" "1587829" "1587829" "subst" "0.000136558" "00006" "PRPF8_000152" "g.1587829G>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP2" "Germline" "" "" "0" "" "" "g.1684535G>C" "" "VUS" "ACMG" "0000968682" "0" "30" "17" "1557063" "1557063" "subst" "0.000243647" "02330" "PRPF8_000188" "g.1557063G>A" "" "" "" "PRPF8(NM_006445.4):c.6227+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968683" "0" "30" "17" "1559679" "1559679" "subst" "0" "02330" "PRPF8_000189" "g.1559679T>C" "" "" "" "PRPF8(NM_006445.4):c.5793+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968684" "0" "30" "17" "1562722" "1562722" "subst" "2.84245E-5" "02330" "PRPF8_000057" "g.1562722G>A" "" "" "" "PRPF8(NM_006445.3):c.5067C>T (p.T1689=), PRPF8(NM_006445.4):c.5067C>T (p.T1689=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968686" "0" "30" "17" "1565189" "1565189" "subst" "4.0624E-6" "02330" "PRPF8_000190" "g.1565189C>T" "" "" "" "PRPF8(NM_006445.4):c.4022+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968687" "0" "30" "17" "1579889" "1579889" "subst" "7.7173E-5" "02330" "PRPF8_000191" "g.1579889A>G" "" "" "" "PRPF8(NM_006445.4):c.2298T>C (p.T766=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968688" "0" "30" "17" "1580914" "1580914" "subst" "0.000422452" "02330" "PRPF8_000192" "g.1580914G>A" "" "" "" "PRPF8(NM_006445.4):c.1929C>T (p.G643=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968689" "0" "30" "17" "1582109" "1582109" "subst" "0.000423401" "02330" "PRPF8_000193" "g.1582109G>A" "" "" "" "PRPF8(NM_006445.4):c.1666C>T (p.L556=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982317" "0" "50" "17" "1554190" "1554192" "del" "0" "02330" "PRPF8_000194" "g.1554190_1554192del" "" "" "" "PRPF8(NM_006445.4):c.6913_6915delTAC (p.Y2305del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985979" "0" "90" "17" "1554134" "1554134" "subst" "0" "04695" "PRPF8_000195" "g.1554134C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.1650840C>A" "" "pathogenic (dominant)" "ACMG" "0000987680" "3" "70" "17" "1554183" "1554185" "del" "0" "04543" "PRPF8_000196" "g.1554183_1554185del" "" "{PMID:Basharat 2024:38815792}" "" "" "ACMG PM2, PM4, PM1" "Germline" "yes" "" "0" "" "" "g.1650889_1650891del" "" "likely pathogenic (recessive)" "ACMG" "0000987681" "3" "70" "17" "1554183" "1554185" "del" "0" "04543" "PRPF8_000196" "g.1554183_1554185del" "" "{PMID:Basharat 2024:38815792}" "" "" "ACMG PM2, PM4, PM1" "Germline" "yes" "" "0" "" "" "g.1650889_1650891del" "" "likely pathogenic (recessive)" "ACMG" "0000987682" "3" "70" "17" "1554183" "1554185" "del" "0" "04543" "PRPF8_000196" "g.1554183_1554185del" "" "{PMID:Basharat 2024:38815792}" "" "" "ACMG PM2, PM4, PM1" "Germline" "yes" "" "0" "" "" "g.1650889_1650891del" "" "likely pathogenic (recessive)" "ACMG" "0000987683" "3" "70" "17" "1554183" "1554185" "del" "0" "04543" "PRPF8_000196" "g.1554183_1554185del" "" "{PMID:Basharat 2024:38815792}" "" "" "ACMG PM2, PM4, PM1" "Germline" "yes" "" "0" "" "" "g.1650889_1650891del" "" "likely pathogenic (recessive)" "ACMG" "0000987684" "3" "70" "17" "1554183" "1554185" "del" "0" "04543" "PRPF8_000196" "g.1554183_1554185del" "" "{PMID:Basharat 2024:38815792}" "" "" "ACMG PM2, PM4, PM1" "Germline" "yes" "" "0" "" "" "g.1650889_1650891del" "" "likely pathogenic (recessive)" "ACMG" "0000987685" "3" "70" "17" "1554183" "1554185" "del" "0" "04543" "PRPF8_000196" "g.1554183_1554185del" "" "{PMID:Basharat 2024:38815792}" "" "" "ACMG PM2, PM4, PM1" "Germline" "yes" "" "0" "" "" "g.1650889_1650891del" "" "likely pathogenic (recessive)" "ACMG" "0001002932" "0" "50" "17" "1554009" "1554009" "subst" "0" "01804" "PRPF8_000197" "g.1554009A>C" "" "" "" "PRPF8(NM_006445.3):c.*87T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002933" "0" "50" "17" "1554440" "1554440" "subst" "0" "01804" "PRPF8_000198" "g.1554440A>T" "" "" "" "PRPF8(NM_006445.3):c.6815T>A (p.(Met2272Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002934" "0" "50" "17" "1554744" "1554744" "subst" "0" "02325" "PRPF8_000199" "g.1554744G>A" "" "" "" "PRPF8(NM_006445.4):c.6614C>T (p.S2205F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002935" "0" "50" "17" "1558765" "1558765" "subst" "4.06062E-6" "01804" "PRPF8_000200" "g.1558765G>C" "" "" "" "PRPF8(NM_006445.3):c.5866C>G (p.(Pro1956Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002937" "0" "50" "17" "1576778" "1576778" "subst" "0" "01804" "PRPF8_000201" "g.1576778A>G" "" "" "" "PRPF8(NM_006445.3):c.3530T>C (p.(Val1177Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002938" "0" "50" "17" "1577859" "1577859" "subst" "0" "01804" "PRPF8_000202" "g.1577859C>A" "" "" "" "PRPF8(NM_006445.3):c.3176G>T (p.(Ser1059Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002939" "0" "30" "17" "1585551" "1585551" "subst" "0.000304561" "02330" "PRPF8_000203" "g.1585551G>A" "" "" "" "PRPF8(NM_006445.4):c.306C>T (p.L102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015473" "0" "30" "17" "1580974" "1580974" "subst" "0.000109969" "02327" "PRPF8_000204" "g.1580974C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015474" "0" "50" "17" "1585184" "1585184" "subst" "0" "02327" "PRPF8_000205" "g.1585184G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041624" "0" "50" "17" "1557098" "1557098" "subst" "0" "01804" "PRPF8_000206" "g.1557098A>C" "" "" "" "PRPF8(NM_006445.4):c.6200T>G (p.(Phe2067Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041625" "0" "30" "17" "1564976" "1564976" "subst" "3.658E-5" "01804" "PRPF8_000107" "g.1564976G>A" "" "" "" "PRPF8(NM_006445.4):c.4131C>T (p.(Ser1377=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041626" "0" "50" "17" "1578567" "1578567" "subst" "1.6243E-5" "01804" "PRPF8_000207" "g.1578567C>T" "" "" "" "PRPF8(NM_006445.4):c.2939G>A (p.(Arg980His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041627" "0" "50" "17" "1583071" "1583071" "subst" "0" "01804" "PRPF8_000208" "g.1583071T>G" "" "" "" "PRPF8(NM_006445.4):c.1121A>C (p.(Asp374Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041628" "0" "50" "17" "1584325" "1584325" "subst" "2.43665E-5" "01804" "PRPF8_000209" "g.1584325T>C" "" "" "" "PRPF8(NM_006445.4):c.890A>G (p.(Asn297Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PRPF8 ## Count = 407 "{{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}}" "0000019513" "00016899" "95" "6970" "0" "6970" "0" "c.6970del" "r.(?)" "p.(Glu2324ArgfsTer35)" "43" "0000247448" "00016899" "10" "3084" "0" "3084" "0" "c.3084T>C" "r.(?)" "p.(Tyr1028=)" "" "0000247457" "00016899" "10" "2182" "-4" "2182" "-4" "c.2182-4T>C" "r.spl?" "p.?" "" "0000255308" "00016899" "30" "6511" "-3" "6511" "-3" "c.6511-3T>C" "r.spl?" "p.?" "" "0000294497" "00016899" "10" "1289" "13" "1289" "13" "c.1289+13C>T" "r.(=)" "p.(=)" "" "0000294498" "00016899" "10" "1290" "-18" "1290" "-18" "c.1290-18G>C" "r.(=)" "p.(=)" "" "0000294499" "00016899" "30" "4022" "15" "4022" "15" "c.4022+15A>G" "r.(=)" "p.(=)" "" "0000294500" "00016899" "10" "4707" "0" "4707" "0" "c.4707G>A" "r.(?)" "p.(Leu1569=)" "" "0000294501" "00016899" "10" "4785" "17" "4785" "17" "c.4785+17G>A" "r.(=)" "p.(=)" "" "0000294502" "00016899" "10" "5352" "0" "5352" "0" "c.5352C>T" "r.(?)" "p.(Asn1784=)" "" "0000294503" "00016899" "10" "5619" "16" "5619" "16" "c.5619+16G>C" "r.(=)" "p.(=)" "" "0000294504" "00016899" "50" "6992" "0" "6992" "0" "c.6992A>T" "r.(?)" "p.(Glu2331Val)" "" "0000306474" "00016899" "30" "3522" "0" "3522" "0" "c.3522C>T" "r.(?)" "p.(Phe1174=)" "" "0000306475" "00016899" "30" "4467" "0" "4467" "0" "c.4467C>T" "r.(?)" "p.(Leu1489=)" "" "0000306476" "00016899" "30" "4707" "0" "4707" "0" "c.4707G>A" "r.(?)" "p.(Leu1569=)" "" "0000306477" "00016899" "50" "5378" "0" "5378" "0" "c.5378C>A" "r.(?)" "p.(Thr1793Asn)" "" "0000306478" "00016899" "10" "5412" "0" "5412" "0" "c.5412C>T" "r.(?)" "p.(Asn1804=)" "" "0000306479" "00016899" "30" "6630" "0" "6630" "0" "c.6630G>A" "r.(?)" "p.(Lys2210=)" "" "0000306480" "00016899" "90" "6926" "0" "6926" "0" "c.6926A>G" "r.(?)" "p.(His2309Arg)" "" "0000306481" "00016899" "50" "6938" "0" "6938" "0" "c.6938A>G" "r.(?)" "p.(His2313Arg)" "" "0000307094" "00016899" "50" "8567" "0" "8567" "0" "c.*1559C>G" "r.(=)" "p.(=)" "" "0000339183" "00016899" "70" "7006" "0" "7006" "0" "c.7006T>C" "r.(?)" "p.(Ter2336ArgextTer41)" "" "0000342166" "00016899" "90" "5804" "0" "5804" "0" "c.5804G>A" "r.(?)" "p.(Arg1935His)" "" "0000342327" "00016899" "70" "6929" "0" "6929" "0" "c.6929G>A" "r.(?)" "p.(Arg2310Lys)" "" "0000347994" "00016899" "50" "6942" "0" "6942" "0" "c.6942C>A" "r.(?)" "p.(Phe2314Leu)" "" "0000438549" "00016899" "90" "6466" "0" "6466" "0" "c.6466A>C" "r.(?)" "p.(Thr2156Pro)" "" "0000438565" "00016899" "90" "6930" "0" "6930" "0" "c.6930G>C" "r.(?)" "p.(Arg2310Ser)" "43" "0000477249" "00016899" "50" "6991" "0" "6991" "0" "c.6991G>A" "r.(?)" "p.(Glu2331Lys)" "" "0000477250" "00016899" "90" "6961" "0" "6961" "0" "c.6961C>T" "r.(?)" "p.(Gln2321*)" "" "0000477251" "00016899" "90" "6928" "0" "6928" "0" "c.6928A>G" "r.(?)" "p.(Arg2310Gly)" "" "0000477252" "00016899" "50" "6910" "0" "6910" "0" "c.6910T>G" "r.(?)" "p.(Phe2304Val)" "" "0000477253" "00016899" "90" "6778" "0" "6778" "0" "c.6778C>T" "r.(?)" "p.(Gln2260*)" "" "0000477254" "00016899" "90" "5987" "2" "5987" "5" "c.5987+2_5987+5del" "r.spl?" "p.?" "" "0000477255" "00016899" "50" "4947" "-5" "4947" "-5" "c.4947-5C>T" "r.spl?" "p.?" "" "0000477256" "00016899" "50" "3884" "0" "3884" "0" "c.3884T>C" "r.(?)" "p.(Ile1295Thr)" "" "0000477257" "00016899" "50" "3613" "0" "3613" "0" "c.3613G>A" "r.(?)" "p.(Glu1205Lys)" "" "0000477258" "00016899" "50" "3523" "0" "3523" "0" "c.3523G>C" "r.(?)" "p.(Val1175Leu)" "" "0000477259" "00016899" "50" "3280" "0" "3280" "0" "c.3280C>T" "r.(?)" "p.(Arg1094Cys)" "" "0000477260" "00016899" "50" "1142" "0" "1142" "0" "c.1142C>T" "r.(?)" "p.(Pro381Leu)" "" "0000477261" "00016899" "50" "971" "0" "971" "0" "c.971C>T" "r.(?)" "p.(Pro324Leu)" "" "0000477262" "00016899" "50" "965" "0" "965" "0" "c.965A>G" "r.(?)" "p.(Asn322Ser)" "" "0000477263" "00016899" "50" "957" "0" "957" "0" "c.957G>T" "r.(?)" "p.(Leu319Phe)" "" "0000477264" "00016899" "50" "867" "-5" "867" "-5" "c.867-5C>T" "r.spl?" "p.?" "" "0000477265" "00016899" "50" "703" "0" "703" "0" "c.703A>G" "r.(?)" "p.(Met235Val)" "" "0000477266" "00016899" "50" "654" "-5" "654" "-5" "c.654-5C>T" "r.spl?" "p.?" "" "0000477267" "00016899" "50" "625" "0" "625" "0" "c.625G>A" "r.(?)" "p.(Asp209Asn)" "" "0000477268" "00016899" "10" "101" "-3" "101" "-3" "c.101-3C>T" "r.spl?" "p.?" "" "0000477269" "00016899" "50" "68" "0" "68" "0" "c.68A>T" "r.(?)" "p.(Asp23Val)" "" "0000477603" "00016899" "10" "101" "-3" "101" "-3" "c.101-3C>T" "r.spl?" "p.?" "" "0000560333" "00016899" "50" "6883" "0" "6883" "0" "c.6883G>A" "r.(?)" "p.(Glu2295Lys)" "" "0000560335" "00016899" "10" "6834" "0" "6834" "0" "c.6834G>A" "r.(?)" "p.(Ser2278=)" "" "0000560337" "00016899" "10" "6666" "0" "6666" "0" "c.6666C>T" "r.(?)" "p.(Ser2222=)" "" "0000560339" "00016899" "10" "6511" "-13" "6511" "-13" "c.6511-13T>C" "r.(=)" "p.(=)" "" "0000560340" "00016899" "50" "6462" "0" "6462" "0" "c.6462C>G" "r.(?)" "p.(His2154Gln)" "" "0000560341" "00016899" "10" "6382" "0" "6382" "0" "c.6382C>T" "r.(?)" "p.(Leu2128=)" "" "0000560342" "00016899" "10" "5469" "0" "5469" "0" "c.5469C>T" "r.(?)" "p.(His1823=)" "" "0000560343" "00016899" "30" "5352" "0" "5352" "0" "c.5352C>T" "r.(?)" "p.(Asn1784=)" "" "0000560344" "00016899" "30" "5067" "0" "5067" "0" "c.5067C>T" "r.(?)" "p.(Thr1689=)" "" "0000560345" "00016899" "10" "4503" "0" "4503" "0" "c.4503T>C" "r.(?)" "p.(Leu1501=)" "" "0000560346" "00016899" "30" "4434" "0" "4434" "0" "c.4434G>C" "r.(?)" "p.(Leu1478=)" "" "0000560347" "00016899" "10" "1896" "0" "1896" "0" "c.1896C>T" "r.(?)" "p.(Ala632=)" "" "0000560348" "00016899" "10" "1600" "-14" "1600" "-14" "c.1600-14dup" "r.(=)" "p.(=)" "" "0000560349" "00016899" "50" "1424" "0" "1424" "0" "c.1424C>T" "r.(?)" "p.(Ser475Phe)" "" "0000560350" "00016899" "10" "1005" "0" "1005" "0" "c.1005C>T" "r.(?)" "p.(Pro335=)" "" "0000560351" "00016899" "10" "992" "18" "992" "18" "c.992+18C>A" "r.(=)" "p.(=)" "" "0000560352" "00016899" "50" "965" "0" "965" "0" "c.965A>G" "r.(?)" "p.(Asn322Ser)" "" "0000560353" "00016899" "10" "690" "0" "690" "0" "c.690C>T" "r.(?)" "p.(Phe230=)" "" "0000560355" "00016899" "50" "155" "0" "155" "0" "c.155G>T" "r.(?)" "p.(Gly52Val)" "" "0000560356" "00016899" "10" "101" "-8" "101" "-8" "c.101-8C>T" "r.(=)" "p.(=)" "" "0000560357" "00016899" "10" "38" "0" "38" "0" "c.38C>T" "r.(?)" "p.(Pro13Leu)" "" "0000616351" "00016899" "30" "5898" "0" "5898" "0" "c.5898C>T" "r.(?)" "p.(His1966=)" "" "0000616352" "00016899" "30" "5881" "0" "5881" "0" "c.5881A>G" "r.(?)" "p.(Ile1961Val)" "" "0000616353" "00016899" "30" "5793" "11" "5793" "11" "c.5793+11C>T" "r.(=)" "p.(=)" "" "0000616354" "00016899" "30" "4602" "0" "4602" "0" "c.4602C>T" "r.(?)" "p.(Phe1534=)" "" "0000616355" "00016899" "30" "3576" "0" "3576" "0" "c.3576C>T" "r.(?)" "p.(Phe1192=)" "" "0000616356" "00016899" "50" "993" "-20" "993" "-20" "c.993-20G>A" "r.(=)" "p.(=)" "" "0000623616" "00016899" "30" "870" "0" "870" "0" "c.870T>C" "r.(?)" "p.(Asp290=)" "" "0000649494" "00016899" "30" "3061" "-11" "3061" "-11" "c.3061-11T>G" "r.(=)" "p.(=)" "" "0000658039" "00016899" "50" "1960" "0" "1960" "0" "c.1960A>C" "r.(?)" "p.(Asn654His)" "" "0000680785" "00016899" "30" "4524" "0" "4524" "0" "c.4524C>T" "r.(?)" "p.(Gly1508=)" "" "0000680786" "00016899" "30" "653" "9" "653" "9" "c.653+9T>G" "r.(=)" "p.(=)" "" "0000685369" "00016899" "70" "5804" "0" "5804" "0" "c.5804G>A" "r.(?)" "p.(Arg1935His)" "" "0000685370" "00016899" "70" "3394" "0" "3396" "0" "c.3394_3396del" "r.(?)" "p.(Lys1132del)" "" "0000692260" "00016899" "30" "5506" "0" "5506" "0" "c.5506T>C" "r.(?)" "p.(Leu1836=)" "" "0000692261" "00016899" "30" "2679" "0" "2679" "0" "c.2679G>A" "r.(?)" "p.(Glu893=)" "" "0000692262" "00016899" "50" "1719" "4" "1719" "4" "c.1719+4A>G" "r.spl?" "p.?" "" "0000704004" "00016899" "90" "7006" "0" "7006" "0" "c.7006T>C" "r.(?)" "p.(*2336Argext*41)" "43" "0000704006" "00016899" "90" "6928" "0" "6928" "0" "c.6928A>G" "r.(?)" "p.(Arg2310Gly)" "43" "0000704007" "00016899" "90" "6928" "0" "6928" "0" "c.6928A>G" "r.(?)" "p.(Arg2310Gly)" "43" "0000704008" "00016899" "90" "6928" "0" "6928" "0" "c.6928A>G" "r.(?)" "p.(Arg2310Gly)" "43" "0000704009" "00016899" "90" "6893" "0" "6896" "0" "c.6893_6896delins(7)" "r.(?)" "p.(Leu2298fs*2337)" "43" "0000704010" "00016899" "90" "6893" "0" "6896" "0" "c.6893_6896delins(7)" "r.(?)" "p.(Leu2298fs*2337)" "43" "0000704011" "00016899" "90" "6974" "0" "6994" "0" "c.6974_6994del" "r.(?)" "p.(Val2325_Glu2331del)" "43" "0000704012" "00016899" "90" "6974" "0" "6994" "0" "c.6974_6994del" "r.(?)" "p.(Val2325_Glu2331del)" "43" "0000704013" "00016899" "90" "6974" "0" "6994" "0" "c.6974_6994del" "r.(?)" "p.(Val2325_Glu2331del)" "43" "0000704014" "00016899" "90" "6974" "0" "6994" "0" "c.6974_6994del" "r.(?)" "p.(Val2325_Glu2331del)" "43" "0000704015" "00016899" "90" "6974" "0" "6994" "0" "c.6974_6994del" "r.(?)" "p.(Val2325_Glu2331del)" "43" "0000704016" "00016899" "90" "6974" "0" "6994" "0" "c.6974_6994del" "r.(?)" "p.(Val2325_Glu2331del)" "43" "0000704017" "00016899" "90" "6943" "0" "6943" "0" "c.6943del" "r.(?)" "p.(Leu2315Serfs*44)" "43" "0000704018" "00016899" "90" "6943" "0" "6943" "0" "c.6943del" "r.(?)" "p.(Leu2315Serfs*44)" "43" "0000704019" "00016899" "90" "6943" "0" "6943" "0" "c.6943del" "r.(?)" "p.(Leu2315Serfs*44)" "43" "0000704020" "00016899" "90" "6943" "0" "6943" "0" "c.6943del" "r.(?)" "p.(Leu2315Serfs*44)" "43" "0000710301" "00016899" "90" "6928" "0" "6928" "0" "c.6928A>G" "r.(?)" "p.(Arg2310Gly)" "" "0000711690" "00016899" "70" "6901" "0" "6901" "0" "c.6901C>T" "r.(?)" "p.(Pro2301Ser)" "43" "0000713670" "00016899" "90" "6928" "0" "6928" "0" "c.6928A>G" "r.(?)" "p.(Arg2310Gly)" "" "0000713971" "00016899" "70" "6616" "0" "6616" "0" "c.6616T>C" "r.(?)" "p.(Trp2206Arg)" "" "0000713972" "00016899" "70" "6347" "0" "6347" "0" "c.6347G>A" "r.(?)" "p.(Cys2116Tyr)" "" "0000726184" "00016899" "50" "6119" "0" "6119" "0" "c.6119C>T" "r.(?)" "p.(Thr2040Met)" "" "0000726185" "00016899" "50" "2832" "0" "2832" "0" "c.2832C>G" "r.(?)" "p.(Asp944Glu)" "" "0000731488" "00016899" "90" "6470" "0" "6470" "0" "c.6470T>A" "r.(?)" "p.(Val2157Glu)" "" "0000732457" "00016899" "50" "708" "0" "708" "0" "c.708G>A" "r.(?)" "p.(Ser236=)" "" "0000732474" "00016899" "50" "4707" "0" "4707" "0" "c.4707G>A" "r.(?)" "p.(Leu1569=)" "" "0000732636" "00016899" "90" "5792" "0" "5792" "0" "c.5792C>T" "r.(?)" "p.(Thr1931Met)" "" "0000732650" "00016899" "90" "5792" "0" "5792" "0" "c.5792C>T" "r.(?)" "p.(Thr1931Met)" "" "0000732812" "00016899" "70" "5792" "0" "5792" "0" "c.5792C>T" "r.(?)" "p.(Thr1931Met)" "" "0000733087" "00016899" "70" "6964" "0" "6964" "0" "c.6964G>T" "r.(?)" "p.(Glu2322*)" "" "0000733212" "00016899" "70" "5792" "0" "5792" "0" "c.5792C>T" "r.(?)" "p.(Thr1931Met)" "" "0000735822" "00016899" "70" "6926" "0" "6926" "0" "c.6926A>G" "r.(?)" "p.(His2309Arg)" "" "0000735923" "00016899" "70" "6994" "0" "6994" "0" "c.6994dupG" "r.(?)" "p.(Asp2332GlyfsTer53)" "" "0000735934" "00016899" "70" "6926" "0" "6926" "0" "c.6926A>G" "r.(?)" "p.(His2309Arg)" "" "0000736088" "00016899" "70" "6325" "0" "6325" "0" "c.6325A>G" "r.(?)" "p.(Asn2109Asp)" "" "0000736331" "00016899" "70" "6840" "0" "6840" "0" "c.6840C>A" "r.(?)" "p.(Asn2280Lys)" "42" "0000736332" "00016899" "90" "6912" "0" "6912" "0" "c.6912C>G" "r.(?)" "p.(Phe2304Leu)" "16" "0000736333" "00016899" "90" "6912" "0" "6912" "0" "c.6912C>G" "r.(?)" "p.(Phe2304Leu)" "16" "0000736334" "00016899" "90" "6964" "0" "6964" "0" "c.6964G>T" "r.(?)" "p.(Glu2322*)" "43" "0000736335" "00016899" "90" "7006" "0" "7006" "0" "c.7006T>C" "r.(?)" "p.(*2336Argext*41)" "43" "0000736414" "00016899" "90" "6912" "0" "6912" "0" "c.6912C>G" "r.(?)" "p.(Phe2304Leu)" "43" "0000736415" "00016899" "90" "6928" "0" "6928" "0" "c.6928A>G" "r.(?)" "p.(Arg2310Gly)" "43" "0000736416" "00016899" "90" "6991" "0" "6991" "0" "c.6991delG" "r.(?)" "p.(Glu2331Argfs*28)" "43" "0000736417" "00016899" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "41i" "0000736418" "00016899" "70" "6983" "0" "6983" "0" "c.6983C>T" "r.(?)" "p.(Ala2328Val)" "43" "0000736501" "00016899" "90" "6974" "0" "6994" "0" "c.6974_6994del" "r.(?)" "p.(Val2325_Glu2331del)" "" "0000736502" "00016899" "90" "6945" "0" "6945" "0" "c.6945del" "r.(?)" "p.(Asn2316Thrfs*43)" "" "0000759594" "00016899" "90" "6930" "0" "6930" "0" "c.6930G>C" "r.(?)" "p.(Arg2310Ser)" "" "0000759668" "00016899" "70" "5041" "0" "5041" "0" "c.5041C>T" "r.(?)" "p.(Arg1681Trp)" "" "0000759889" "00016899" "70" "7000" "0" "7000" "0" "c.7000dup" "r.(?)" "p.(Tyr2334LeufsTer51)" "" "0000760236" "00016899" "50" "4131" "0" "4131" "0" "c.4131C>T" "r.(?)" "p.(Ser1377=)" "" "0000760288" "00016899" "50" "3910" "0" "3914" "0" "c.3910_3914del" "r.(?)" "p.(Asn1304Glnfs*15)" "" "0000760297" "00016899" "50" "6961" "0" "6961" "0" "c.6961C>T" "r.(?)" "p.(Gln2321*)" "" "0000760311" "00016899" "50" "6470" "0" "6470" "0" "c.6470T>A" "r.(?)" "p.(Val2157Glu)" "" "0000760592" "00016899" "90" "5804" "0" "5804" "0" "c.5804G>A" "r.(?)" "p.(Arg1935His)" "" "0000760655" "00016899" "90" "6994" "0" "6994" "0" "c.6994dup" "r.(?)" "p.(Asp2332GlyfsTer53)" "" "0000764184" "00016899" "50" "6462" "0" "6462" "0" "c.6462C>A" "r.(?)" "p.(His2154Gln)" "40" "0000765482" "00016899" "70" "6980" "0" "6980" "0" "c.6980C>T" "r.(?)" "p.(Ser2327Phe)" "" "0000765641" "00016899" "70" "7008" "0" "7008" "0" "c.7008A>G" "r.(?)" "p.(Ter2336TrpextTer41)" "43" "0000784150" "00016899" "50" "455" "0" "455" "0" "c.455G>C" "r.(?)" "p.(Arg152Pro)" "" "0000784181" "00016899" "90" "5804" "0" "5804" "0" "c.5804G>A" "r.(?)" "p.(Arg1935His)" "" "0000784182" "00016899" "90" "6910" "0" "6910" "0" "c.6910T>C" "r.(?)" "p.(Phe2304Leu)" "" "0000784183" "00016899" "90" "6985" "0" "6985" "0" "c.6985G>A" "r.(?)" "p.(Asp2329Asn)" "" "0000785540" "00016899" "50" "6835" "0" "6835" "0" "c.6835T>G" "r.(?)" "p.(Trp2279Gly)" "" "0000785545" "00016899" "30" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Met1140Thr)" "" "0000786461" "00016899" "90" "5804" "0" "5804" "0" "c.5804G>A" "r.(?)" "p.(Arg1935His)" "" "0000789849" "00016899" "70" "6942" "0" "6942" "0" "c.6942C>G" "r.(?)" "p.(Phe2314Leu)" "43" "0000790430" "00016899" "70" "6961" "0" "6961" "0" "c.6961C>T" "r.(?)" "p.(Gln2321Ter)" "" "0000791150" "00016899" "70" "5792" "0" "5792" "0" "c.5792C>T" "r.(?)" "p.(Thr1931Met)" "36" "0000791465" "00016899" "70" "6893" "0" "6896" "0" "c.6893_6896delinsCCATAGA" "r.(?)" "p.(Leu2298_Ala2299delinsProIleGlu)" "43" "0000791466" "00016899" "70" "6974" "0" "6994" "0" "c.6974_6994del" "r.(?)" "p.(Val2325_Glu2331del)" "43" "0000791467" "00016899" "70" "6928" "0" "6928" "0" "c.6928A>G" "r.(?)" "p.(Arg2310Gly)" "43" "0000791920" "00016899" "10" "-50" "0" "-50" "0" "c.-50G>A" "r.(=)" "p.(=)" "1" "0000792039" "00016899" "50" "6974" "0" "6994" "0" "c.6974_6994del21" "r.(?)" "p.(Val2325_Glu2331del)" "43" "0000792040" "00016899" "50" "6974" "0" "6994" "0" "c.6974_6994del21" "r.(?)" "p.(Val2325_Glu2331del)" "43" "0000792041" "00016899" "50" "6893" "0" "6896" "0" "c.6893_6896delins7" "r.(?)" "p.?" "43" "0000792042" "00016899" "50" "6893" "0" "6896" "0" "c.6893_6896delins7" "r.(?)" "p.?" "43" "0000792236" "00016899" "50" "6928" "0" "6928" "0" "c.6928A>G" "r.(?)" "p.(Arg2310Gly)" "43" "0000792237" "00016899" "50" "7000" "0" "7000" "0" "c.7000T>A" "r.(?)" "p.(Tyr2334Asn)" "43" "0000792238" "00016899" "50" "6928" "0" "6928" "0" "c.6928A>G" "r.(?)" "p.(Arg2310Gly)" "43" "0000792239" "00016899" "50" "7000" "0" "7000" "0" "c.7000T>A" "r.(?)" "p.(Tyr2334Asn)" "43" "0000792248" "00016899" "90" "6992" "0" "6992" "0" "c.6992A>G" "r.(?)" "p.(Glu2331Gly)" "43" "0000792249" "00016899" "90" "6992" "0" "6992" "0" "c.6992A>G" "r.(?)" "p.(Glu2331Gly)" "43" "0000792250" "00016899" "90" "6992" "0" "6992" "0" "c.6992A>G" "r.(?)" "p.(Glu2331Gly)" "43" "0000793771" "00016899" "70" "6616" "0" "6616" "0" "c.6616T>C" "r.(?)" "p.(Trp2206Arg)" "41" "0000793772" "00016899" "70" "6347" "0" "6347" "0" "c.6347G>A" "r.(?)" "p.(Cys2116Tyr)" "39" "0000793945" "00016899" "70" "6337" "0" "6339" "0" "c.6337_6339del" "r.(?)" "p.(Lys2113del)" "39" "0000794360" "00016899" "90" "6928" "0" "6928" "0" "c.6928A>G" "r.(?)" "p.(Arg2310Gly)" "43" "0000794361" "00016899" "70" "6938" "0" "6938" "0" "c.6938A>G" "r.(?)" "p.(His2313Arg)" "43" "0000794804" "00016899" "50" "6835" "0" "6835" "0" "c.6835T>G" "r.(?)" "p.(Trp2279Gly)" "" "0000795944" "00016899" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000796896" "00016899" "90" "6970" "0" "6970" "0" "c.6970del" "r.(?)" "p.(Glu2324Argfs*35)" "43" "0000796969" "00016899" "70" "6901" "0" "6901" "0" "c.6901C>T" "r.(?)" "p.(Pro2301Ser)" "43" "0000796970" "00016899" "70" "6912" "0" "6912" "0" "c.6912C>G" "r.(?)" "p.(Phe2304Leu)" "43" "0000796971" "00016899" "70" "6991" "0" "6991" "0" "c.6991del" "r.(?)" "p.(Glu2331Argfs*28)" "43" "0000797006" "00016899" "50" "5804" "0" "5804" "0" "c.5804G>A" "r.(?)" "p.(Arg1935His)" "37" "0000797007" "00016899" "50" "4234" "0" "4234" "0" "c.4234T>C" "r.(?)" "p.(Trp1412Arg)" "27" "0000797123" "00016899" "50" "6446" "0" "6462" "0" "c.6446_6462delinsACCACCACACCATG" "r.(?)" "p.(Pro2149_His2154delinsHisHisHisThrMet)" "40" "0000798054" "00016899" "50" "6480" "0" "6491" "0" "c.6480_6491del" "r.(?)" "p.(Gly2161_Pro2164del)" "" "0000807813" "00016899" "30" "7010" "0" "7010" "0" "c.*2C>T" "r.(=)" "p.(=)" "" "0000807814" "00016899" "70" "6837" "0" "6837" "0" "c.6837G>C" "r.(?)" "p.(Trp2279Cys)" "" "0000807815" "00016899" "30" "3657" "13" "3657" "13" "c.3657+13C>T" "r.(=)" "p.(=)" "" "0000807816" "00016899" "50" "2863" "0" "2863" "0" "c.2863T>C" "r.(?)" "p.(Trp955Arg)" "" "0000807817" "00016899" "30" "2382" "0" "2382" "0" "c.2382C>T" "r.(?)" "p.(Tyr794=)" "" "0000811439" "00016899" "70" "6928" "0" "6928" "0" "c.6928A>G" "r.(?)" "p.(Arg2310Gly)" "" "0000813645" "00016899" "90" "7007" "0" "7007" "0" "c.7007G>C" "r.(?)" "p.(*2336Serext*41)" "" "0000815440" "00016899" "50" "434" "3" "434" "3" "c.434+3G>A" "r.spl" "p.(?)" "" "0000815972" "00016899" "90" "6926" "0" "6926" "0" "c.6926A>G" "r.(?)" "p.(His2309Arg)" "" "0000816178" "00016899" "50" "6912" "0" "6912" "0" "c.6912C>G" "r.(?)" "p.(Phe2304Leu)" "" "0000816189" "00016899" "50" "6943" "0" "6943" "0" "c.6943del" "r.(?)" "p.(Leu2315Serfs*44)" "" "0000816224" "00016899" "50" "5471" "0" "5471" "0" "c.5471C>T" "r.(?)" "p.(Thr1824Met)" "" "0000816302" "00016899" "70" "7007" "0" "7007" "0" "c.7007G>C" "r.(?)" "p.(*2336Serext*41)" "" "0000816676" "00016899" "70" "6912" "0" "6912" "0" "c.6912C>G" "r.(?)" "p.(Phe2304Leu)" "" "0000816677" "00016899" "70" "5804" "0" "5804" "0" "c.5804G>A" "r.(?)" "p.(Arg1935His)" "" "0000816678" "00016899" "70" "6947" "0" "6962" "0" "c.6947_6962del" "r.(?)" "p.(Asn2316Argfs*38)" "" "0000816679" "00016899" "70" "6991" "0" "6991" "0" "c.6991del" "r.(?)" "p.(Glu2331Argfs*28)" "" "0000819919" "00016899" "70" "6910" "0" "6910" "0" "c.6910T>C" "r.(?)" "p.(Phe2304Leu)" "" "0000820187" "00016899" "70" "6377" "0" "6377" "0" "c.6377G>A" "r.(?)" "p.(Gly2126Glu)" "" "0000820188" "00016899" "70" "6377" "0" "6377" "0" "c.6377G>A" "r.(?)" "p.(Gly2126Glu)" "" "0000820249" "00016899" "70" "6929" "0" "6929" "0" "c.6929G>A" "r.(?)" "p.(Arg2310Lys)" "" "0000820255" "00016899" "70" "6970" "0" "6970" "0" "c.6970dup" "r.(?)" "p.(Glu2324Glyfs*61)" "" "0000820256" "00016899" "70" "6970" "0" "6970" "0" "c.6970dup" "r.(?)" "p.(Glu2324Glyfs*61)" "" "0000820269" "00016899" "70" "6938" "0" "6938" "0" "c.6938A>G" "r.(?)" "p.(His2313Arg)" "" "0000820287" "00016899" "70" "6651" "-3" "6651" "-3" "c.6651-3C>A" "r.spl?" "p.(?)" "" "0000820339" "00016899" "70" "5803" "0" "5803" "0" "c.5803C>T" "r.(?)" "p.(Arg1935Cys)" "" "0000820558" "00016899" "70" "5804" "0" "5804" "0" "c.5804G>A" "r.(?)" "p.(Arg1935His)" "" "0000820567" "00016899" "70" "6966" "0" "6966" "0" "c.6966G>T" "r.(?)" "p.(Glu2322Asp)" "" "0000821343" "00016899" "90" "6928" "0" "6928" "0" "c.6928A>G" "r.(?)" "p.(Arg2310Gly)" "" "0000824122" "00016899" "90" "6902" "0" "6902" "0" "c.6902C>T" "r.(?)" "p.(Pro2301Leu)" "" "0000824160" "00016899" "90" "6902" "0" "6902" "0" "c.6902C>T" "r.(?)" "p.(Pro2301Leu)" "" "0000824275" "00016899" "70" "5804" "0" "5804" "0" "c.5804G>A" "r.(?)" "p.(Arg1935His)" "" "0000824336" "00016899" "90" "4150" "0" "4150" "0" "c.4150C>T" "r.(?)" "p.(Arg1384Trp)" "26" "0000824359" "00016899" "90" "6997" "0" "6997" "0" "c.6997del" "r.(?)" "p.(Leu2333Cysfs*26)" "43" "0000824380" "00016899" "90" "5792" "0" "5792" "0" "c.5792C>T" "r.(?)" "p.(Thr1931Met)" "36" "0000824391" "00016899" "70" "6994" "0" "6994" "0" "c.6994G>T" "r.(?)" "p.(Asp2332Tyr)" "43" "0000824411" "00016899" "90" "6938" "0" "6938" "0" "c.6938A>G" "r.(?)" "p.(His2313Arg)" "43" "0000824661" "00016899" "50" "1492" "0" "1492" "0" "c.1492C>T" "r.(?)" "p.(Arg498Cys)" "" "0000824704" "00016899" "70" "6981" "0" "6981" "0" "c.6981dup" "r.(?)" "p.(Ala2328CysfsTer57)" "" "0000825770" "00016899" "70" "6928" "0" "6928" "0" "c.6928A>G" "r.(?)" "p.(Arg2310Gly)" "43" "0000825877" "00016899" "70" "6938" "0" "6938" "0" "c.6938A>G" "r.(?)" "p.(His2313Arg)" "43" "0000826957" "00016899" "50" "37" "0" "37" "0" "c.37C>G" "r.(?)" "p.(Pro13Ala)" "" "0000827141" "00016899" "90" "6985" "0" "6985" "0" "c.6985G>A" "r.(?)" "p.(Asp2329Asn)" "43" "0000827142" "00016899" "90" "6994" "0" "7001" "0" "c.6994_7001delinsTTTACTC" "r.(?)" "p.(Asp2332Phefs*27)" "43" "0000827143" "00016899" "90" "7007" "0" "7007" "0" "c.7007G>C" "r.(?)" "p.(*2336Serext*41)" "43" "0000827144" "00016899" "90" "5070" "0" "5070" "0" "c.5070C>G" "r.(?)" "p.(Asp1690Glu)" "32" "0000827145" "00016899" "90" "6910" "0" "6910" "0" "c.6910T>G" "r.(?)" "p.(Phe2304Val)" "43" "0000827146" "00016899" "90" "6353" "0" "6353" "0" "c.6353C>T" "r.(?)" "p.(Ser2118Phe)" "39" "0000827147" "00016899" "90" "6994" "0" "6994" "0" "c.6994G>T" "r.(?)" "p.(Asp2332Tyr)" "43" "0000827148" "00016899" "50" "2111" "0" "2111" "0" "c.2111A>C" "r.(?)" "p.(Asn704Thr)" "15" "0000828838" "00016899" "70" "6983" "0" "6983" "0" "c.6983C>T" "r.(?)" "p.(Ala2328Val)" "" "0000828917" "00016899" "90" "6943" "0" "6943" "0" "c.6943del" "r.(?)" "p.(Leu2315Serfs*44)" "" "0000829796" "00016899" "70" "6337" "0" "6339" "0" "c.6337_6339del" "r.(?)" "p.(Lys2113del)" "" "0000829870" "00016899" "90" "5792" "0" "5792" "0" "c.5792C>T" "r.(?)" "p.(Thr1931Met)" "36" "0000829887" "00016899" "90" "6926" "0" "6926" "0" "c.6926A>C" "r.(?)" "p.(His2309Pro)" "43" "0000829940" "00016899" "90" "6929" "0" "6929" "0" "c.6929G>A" "r.(?)" "p.(Arg2310Lys)" "43" "0000829986" "00016899" "50" "6345" "0" "6345" "0" "c.6345C>G" "r.(?)" "p.(Ile2115Met)" "39" "0000846883" "00016899" "70" "6942" "0" "6942" "0" "c.6942C>G" "r.(?)" "p.(Phe2314Leu)" "" "0000854758" "00016899" "30" "6615" "0" "6615" "0" "c.6615T>C" "r.(?)" "p.(Ser2205=)" "" "0000854759" "00016899" "50" "5377" "-5" "5377" "-5" "c.5377-5T>A" "r.spl?" "p.?" "" "0000854760" "00016899" "30" "1896" "0" "1896" "0" "c.1896C>T" "r.(?)" "p.(Ala632=)" "" "0000854761" "00016899" "30" "600" "0" "600" "0" "c.600C>T" "r.(?)" "p.(Asp200=)" "" "0000865071" "00016899" "50" "6938" "0" "6938" "0" "c.6938A>G" "r.(?)" "p.(His2313Arg)" "" "0000865072" "00016899" "30" "5706" "0" "5706" "0" "c.5706C>T" "r.(?)" "p.(Phe1902=)" "" "0000865073" "00016899" "30" "3447" "-12" "3447" "-12" "c.3447-12C>T" "r.(=)" "p.(=)" "" "0000865074" "00016899" "30" "3084" "0" "3084" "0" "c.3084T>C" "r.(?)" "p.(Tyr1028=)" "" "0000865075" "00016899" "70" "3017" "0" "3017" "0" "c.3017C>T" "r.(?)" "p.(Ala1006Val)" "" "0000865076" "00016899" "50" "2181" "6" "2181" "6" "c.2181+6T>C" "r.(=)" "p.(=)" "" "0000865077" "00016899" "50" "8" "0" "8" "0" "c.8G>C" "r.(?)" "p.(Gly3Ala)" "" "0000870265" "00016899" "70" "6928" "0" "6928" "0" "c.6928A>G" "r.(?)" "p.(Arg2310Gly)" "" "0000870266" "00016899" "70" "6928" "0" "6928" "0" "c.6928A>G" "r.(?)" "p.(Arg2310Gly)" "" "0000877301" "00016899" "70" "6928" "0" "6928" "0" "c.6928A>G" "r.(?)" "p.(Arg2310Gly)" "" "0000877302" "00016899" "70" "6961" "0" "6961" "0" "c.6961C>T" "r.(?)" "p.(Gln2321*)" "" "0000877303" "00016899" "70" "6991" "0" "6991" "0" "c.6991del" "r.(?)" "p.(Glu2331Argfs*28)" "" "0000877304" "00016899" "70" "7000" "0" "7000" "0" "c.7000T>A" "r.(?)" "p.(Tyr2334Asn)" "" "0000877305" "00016899" "70" "7000" "0" "7000" "0" "c.7000T>A" "r.(?)" "p.(Tyr2334Asn)" "" "0000877306" "00016899" "70" "7000" "0" "7000" "0" "c.7000T>A" "r.(?)" "p.(Tyr2334Asn)" "" "0000877307" "00016899" "70" "7000" "0" "7000" "0" "c.7000T>A" "r.(?)" "p.(Tyr2334Asn)" "" "0000877308" "00016899" "70" "7000" "0" "7000" "0" "c.7000T>A" "r.(?)" "p.(Tyr2334Asn)" "" "0000877309" "00016899" "70" "7000" "0" "7000" "0" "c.7000T>A" "r.(?)" "p.(Tyr2334Asn)" "" "0000877310" "00016899" "70" "7000" "0" "7000" "0" "c.7000T>A" "r.(?)" "p.(Tyr2334Asn)" "" "0000877311" "00016899" "70" "7000" "0" "7000" "0" "c.7000T>A" "r.(?)" "p.(Tyr2334Asn)" "" "0000877312" "00016899" "70" "7000" "0" "7000" "0" "c.7000T>A" "r.(?)" "p.(Tyr2334Asn)" "" "0000877313" "00016899" "70" "7000" "0" "7000" "0" "c.7000T>A" "r.(?)" "p.(Tyr2334Asn)" "" "0000877314" "00016899" "70" "7000" "0" "7000" "0" "c.7000T>A" "r.(?)" "p.(Tyr2334Asn)" "" "0000877315" "00016899" "70" "7000" "0" "7000" "0" "c.7000T>A" "r.(?)" "p.(Tyr2334Asn)" "" "0000877316" "00016899" "70" "7000" "0" "7000" "0" "c.7000T>A" "r.(?)" "p.(Tyr2334Asn)" "" "0000877322" "00016899" "70" "6967" "0" "6967" "0" "c.6967A>C" "r.(?)" "p.(His2309Pro)" "" "0000877323" "00016899" "70" "6967" "0" "6967" "0" "c.6967A>C" "r.(?)" "p.(His2309Pro)" "" "0000877324" "00016899" "70" "6967" "0" "6967" "0" "c.6967A>C" "r.(?)" "p.(His2309Pro)" "" "0000877325" "00016899" "70" "6967" "0" "6967" "0" "c.6967A>C" "r.(?)" "p.(His2309Pro)" "" "0000877326" "00016899" "70" "6967" "0" "6967" "0" "c.6967A>C" "r.(?)" "p.(His2309Pro)" "" "0000877327" "00016899" "70" "6967" "0" "6967" "0" "c.6967A>C" "r.(?)" "p.(His2309Pro)" "" "0000877328" "00016899" "70" "6967" "0" "6967" "0" "c.6967A>C" "r.(?)" "p.(His2309Pro)" "" "0000877329" "00016899" "70" "6967" "0" "6967" "0" "c.6967A>G" "r.(?)" "p.(His2309Arg)" "" "0000877330" "00016899" "70" "6967" "0" "6967" "0" "c.6967A>G" "r.(?)" "p.(His2309Arg)" "" "0000877331" "00016899" "70" "6967" "0" "6967" "0" "c.6967A>G" "r.(?)" "p.(His2309Arg)" "" "0000877332" "00016899" "70" "6967" "0" "6967" "0" "c.6967A>G" "r.(?)" "p.(His2309Arg)" "" "0000877333" "00016899" "70" "6967" "0" "6967" "0" "c.6967A>G" "r.(?)" "p.(His2309Arg)" "" "0000877334" "00016899" "70" "6970" "0" "6970" "0" "c.6970G>A" "r.(?)" "p.(Arg2310Lys)" "" "0000877335" "00016899" "70" "6942" "0" "6942" "0" "c.6942C>A" "r.(?)" "p.(Pro2301Thr)" "" "0000877336" "00016899" "70" "6953" "0" "6953" "0" "c.6953C>G" "r.(?)" "p.(Phe2304Leu)" "" "0000877337" "00016899" "70" "6953" "0" "6953" "0" "c.6953C>G" "r.(?)" "p.(Phe2304Leu)" "" "0000877338" "00016899" "70" "6953" "0" "6953" "0" "c.6953C>G" "r.(?)" "p.(Phe2304Leu)" "" "0000877339" "00016899" "70" "6969" "0" "6969" "0" "c.6969A>G" "r.(?)" "p.(Arg2310Gly)" "" "0000877340" "00016899" "70" "6983" "0" "6983" "0" "c.6983C>A" "r.(?)" "p.(Phe2314Leu)" "" "0000877341" "00016899" "70" "6972" "0" "6977" "0" "c.6972_6977delinsAACCCTCTGCT" "r.(?)" "p.(Val2325Thrfs*36)" "" "0000877342" "00016899" "70" "6972" "0" "6977" "0" "c.6972_6977delinsAACCCTCTGCT" "r.(?)" "p.(Val2325Thrfs*36)" "" "0000877343" "00016899" "70" "6972" "0" "6977" "0" "c.6972_6977delinsAACCCTCTGCT" "r.(?)" "p.(Val2325Thrfs*36)" "" "0000877344" "00016899" "70" "6972" "0" "6977" "0" "c.6972_6977delinsAACCCTCTGCT" "r.(?)" "p.(Val2325Thrfs*36)" "" "0000877345" "00016899" "70" "6972" "0" "6977" "0" "c.6972_6977delinsAACCCTCTGCT" "r.(?)" "p.(Val2325Thrfs*36)" "" "0000877346" "00016899" "70" "6901" "0" "6901" "0" "c.6901C>T" "r.(?)" "p.(Pro2301Ser)" "" "0000877347" "00016899" "70" "6901" "0" "6901" "0" "c.6901C>T" "r.(?)" "p.(Pro2301Ser)" "" "0000877348" "00016899" "70" "6901" "0" "6901" "0" "c.6901C>T" "r.(?)" "p.(Pro2301Ser)" "" "0000877349" "00016899" "70" "6901" "0" "6901" "0" "c.6901C>T" "r.(?)" "p.(Pro2301Ser)" "" "0000877350" "00016899" "70" "6901" "0" "6901" "0" "c.6901C>T" "r.(?)" "p.(Pro2301Ser)" "" "0000877351" "00016899" "70" "6901" "0" "6901" "0" "c.6901C>T" "r.(?)" "p.(Pro2301Ser)" "" "0000877352" "00016899" "70" "6926" "0" "6926" "0" "c.6926A>G" "r.(?)" "p.(His2309Arg)" "" "0000877353" "00016899" "70" "6926" "0" "6926" "0" "c.6926A>G" "r.(?)" "p.(His2309Arg)" "" "0000877354" "00016899" "70" "6926" "0" "6926" "0" "c.6926A>G" "r.(?)" "p.(His2309Arg)" "" "0000877355" "00016899" "70" "6926" "0" "6926" "0" "c.6926A>G" "r.(?)" "p.(His2309Arg)" "" "0000877356" "00016899" "70" "6926" "0" "6926" "0" "c.6926A>G" "r.(?)" "p.(His2309Arg)" "" "0000877357" "00016899" "70" "6926" "0" "6926" "0" "c.6926A>G" "r.(?)" "p.(His2309Arg)" "" "0000877358" "00016899" "70" "6926" "0" "6926" "0" "c.6926A>G" "r.(?)" "p.(His2309Arg)" "" "0000877359" "00016899" "70" "6926" "0" "6926" "0" "c.6926A>G" "r.(?)" "p.(His2309Arg)" "" "0000877360" "00016899" "70" "6926" "0" "6926" "0" "c.6926A>G" "r.(?)" "p.(His2309Arg)" "" "0000877361" "00016899" "70" "6926" "0" "6926" "0" "c.6926A>G" "r.(?)" "p.(His2309Arg)" "" "0000877362" "00016899" "70" "6926" "0" "6926" "0" "c.6926A>G" "r.(?)" "p.(His2309Arg)" "" "0000877363" "00016899" "70" "6926" "0" "6926" "0" "c.6926A>G" "r.(?)" "p.(His2309Arg)" "" "0000877364" "00016899" "70" "6926" "0" "6926" "0" "c.6926A>G" "r.(?)" "p.(His2309Arg)" "" "0000877365" "00016899" "70" "6926" "0" "6926" "0" "c.6926A>G" "r.(?)" "p.(His2309Arg)" "" "0000877366" "00016899" "70" "6926" "0" "6926" "0" "c.6926A>C" "r.(?)" "p.(His2309Pro)" "" "0000877367" "00016899" "70" "7000" "0" "7000" "0" "c.7000T>A" "r.(?)" "p.(Tyr2334Asn)" "" "0000877368" "00016899" "70" "7000" "0" "7000" "0" "c.7000T>A" "r.(?)" "p.(Tyr2334Asn)" "" "0000877369" "00016899" "70" "7000" "0" "7000" "0" "c.7000T>A" "r.(?)" "p.(Tyr2334Asn)" "" "0000877370" "00016899" "70" "6930" "0" "6930" "0" "c.6930G>C" "r.(?)" "p.(Arg2310Ser)" "" "0000877371" "00016899" "70" "6353" "0" "6353" "0" "c.6353C>T" "r.(?)" "p.(Ser2118Phe)" "" "0000877372" "00016899" "70" "6926" "0" "6926" "0" "c.6926A>C" "r.(?)" "p.(His2309Pro)" "" "0000877373" "00016899" "70" "6926" "0" "6926" "0" "c.6926A>C" "r.(?)" "p.(His2309Pro)" "" "0000877374" "00016899" "70" "6926" "0" "6926" "0" "c.6926A>C" "r.(?)" "p.(His2309Pro)" "" "0000877375" "00016899" "70" "6926" "0" "6926" "0" "c.6926A>C" "r.(?)" "p.(His2309Pro)" "" "0000877376" "00016899" "70" "6926" "0" "6926" "0" "c.6926A>C" "r.(?)" "p.(His2309Pro)" "" "0000877381" "00016899" "70" "6991" "0" "6991" "0" "c.6991G>T" "r.(?)" "p.(Glu2331*)" "" "0000877382" "00016899" "70" "6991" "0" "6991" "0" "c.6991G>T" "r.(?)" "p.(Glu2331*)" "" "0000877383" "00016899" "90" "2894" "0" "2894" "0" "c.2894T>G" "r.(?)" "p.(Val965Gly)" "" "0000877384" "00016899" "90" "2894" "0" "2894" "0" "c.2894T>G" "r.(?)" "p.(Val965Gly)" "" "0000877385" "00016899" "90" "2894" "0" "2894" "0" "c.2894T>G" "r.(?)" "p.(Val965Gly)" "" "0000877386" "00016899" "90" "2894" "0" "2894" "0" "c.2894T>G" "r.(?)" "p.(Val965Gly)" "" "0000877387" "00016899" "90" "38" "0" "38" "0" "c.38C>T" "r.(?)" "p.(Pro13Leu)" "" "0000877388" "00016899" "90" "38" "0" "38" "0" "c.38C>T" "r.(?)" "p.(Pro13Leu)" "" "0000877389" "00016899" "90" "38" "0" "38" "0" "c.38C>T" "r.(?)" "p.(Pro13Leu)" "" "0000877390" "00016899" "90" "38" "0" "38" "0" "c.38C>T" "r.(?)" "p.(Pro13Leu)" "" "0000877391" "00016899" "90" "38" "0" "38" "0" "c.38C>T" "r.(?)" "p.(Pro13Leu)" "" "0000877392" "00016899" "90" "38" "0" "38" "0" "c.38C>T" "r.(?)" "p.(Pro13Leu)" "" "0000877393" "00016899" "90" "74" "0" "74" "0" "c.74T>C" "r.(?)" "p.(Met25Thr)" "" "0000877394" "00016899" "90" "74" "0" "74" "0" "c.74T>C" "r.(?)" "p.(Met25Thr)" "" "0000893353" "00016899" "30" "6678" "0" "6678" "0" "c.6678G>A" "r.(?)" "p.(Thr2226=)" "" "0000893354" "00016899" "30" "4339" "-20" "4339" "-20" "c.4339-20G>A" "r.(=)" "p.(=)" "" "0000893355" "00016899" "30" "4257" "0" "4257" "0" "c.4257C>T" "r.(?)" "p.(Ile1419=)" "" "0000893356" "00016899" "30" "4022" "5" "4022" "5" "c.4022+5A>T" "r.spl?" "p.?" "" "0000893357" "00016899" "70" "850" "0" "850" "0" "c.850C>T" "r.(?)" "p.(Arg284*)" "" "0000893358" "00016899" "30" "603" "0" "603" "0" "c.603C>T" "r.(?)" "p.(Ala201=)" "" "0000893359" "00016899" "30" "297" "0" "297" "0" "c.297C>T" "r.(?)" "p.(Val99=)" "" "0000896467" "00016899" "70" "6983" "0" "6983" "0" "c.6983C>T" "r.(?)" "p.(Ala2328Val)" "" "0000896722" "00016899" "90" "6943" "0" "6943" "0" "c.6943delC" "r.(?)" "p.(Leu2315SerfsTer44)" "" "0000896990" "00016899" "70" "5791" "0" "5791" "0" "c.5791A>G" "r.(?)" "p.(Thr1931Ala)" "36" "0000896991" "00016899" "70" "5791" "0" "5791" "0" "c.5791A>G" "r.(?)" "p.(Thr1931Ala)" "36" "0000896992" "00016899" "70" "5804" "0" "5804" "0" "c.5804G>T" "r.(?)" "p.(Arg1935Leu)" "37" "0000896993" "00016899" "70" "6924" "0" "6927" "0" "c.6924_6927delinsA" "r.(?)" "p.(His2309del)" "43" "0000896994" "00016899" "90" "6961" "0" "6961" "0" "c.6961C>T" "r.(?)" "p.(Gln2321*)" "43" "0000896995" "00016899" "90" "6985" "0" "6985" "0" "c.6985G>A" "r.(?)" "p.(Asp2329Asn)" "43" "0000896996" "00016899" "90" "6985" "0" "6985" "0" "c.6985G>A" "r.(?)" "p.(Asp2329Asn)" "43" "0000896997" "00016899" "90" "6997" "0" "7000" "0" "c.6997_7000del" "r.(?)" "p.(Leu2333Metfs*25)" "43" "0000896998" "00016899" "90" "7008" "0" "7008" "0" "c.7008A>G" "r.(?)" "p.(*2336Trpext*41)" "43" "0000905944" "00016899" "70" "6950" "0" "6951" "0" "c.6950_6951del" "r.(?)" "p.(Phe2317Cysfs*67)" "" "0000915802" "00016899" "70" "6926" "0" "6926" "0" "c.6926A>T" "r.(?)" "p.(His2309Leu)" "43" "0000915868" "00016899" "70" "7001" "0" "7001" "0" "c.7001A>G" "r.(?)" "p.(Tyr2334Cys)" "43" "0000916178" "00016899" "70" "5792" "0" "5792" "0" "c.5792C>T" "r.(?)" "p.(Thr1931Met)" "36" "0000916265" "00016899" "70" "5792" "0" "5792" "0" "c.5792C>T" "r.(?)" "p.(Thr1931Met)" "36" "0000916478" "00016899" "70" "6938" "0" "6938" "0" "c.6938A>C" "r.(?)" "p.(His2313Pro)" "43" "0000930693" "00016899" "50" "6839" "0" "6839" "0" "c.6839A>C" "r.(?)" "p.(Asn2280Thr)" "" "0000950803" "00016899" "30" "6792" "0" "6792" "0" "c.6792G>A" "r.(?)" "p.(=)" "" "0000950804" "00016899" "30" "2601" "0" "2601" "0" "c.2601C>T" "r.(?)" "p.(=)" "" "0000957991" "00016899" "90" "6910" "0" "6910" "0" "c.6910T>C" "r.(?)" "p.(Phe2304Leu)" "" "0000957992" "00016899" "90" "6910" "0" "6910" "0" "c.6910T>C" "r.(?)" "p.(Phe2304Leu)" "" "0000958012" "00016899" "90" "6970" "0" "6970" "0" "c.6970dup" "r.(?)" "p.(Glu2324GlyfsTer61)" "" "0000958351" "00016899" "90" "6912" "0" "6912" "0" "c.6912C>G" "r.(?)" "p.(Phe2304Leu)" "" "0000958380" "00016899" "90" "6991" "0" "6991" "0" "c.6991G>A" "r.(?)" "p.(Glu2331Lys)" "" "0000958384" "00016899" "90" "5804" "0" "5804" "0" "c.5804G>A" "r.(?)" "p.(Arg1935His)" "" "0000958557" "00016899" "50" "1898" "0" "1898" "0" "c.1898G>A" "r.(?)" "p.(Gly633Asp)" "" "0000958833" "00016899" "50" "6838" "0" "6838" "0" "c.6838A>G" "r.(?)" "p.(Asn2280Asp)" "" "0000959206" "00016899" "50" "2228" "0" "2228" "0" "c.2228T>C" "r.(?)" "p.(Val743Ala)" "" "0000959278" "00016899" "50" "37" "0" "37" "0" "c.37C>G" "r.(?)" "p.(Pro13Ala)" "" "0000968682" "00016899" "30" "6227" "8" "6227" "8" "c.6227+8C>T" "r.(=)" "p.(=)" "" "0000968683" "00016899" "30" "5793" "7" "5793" "7" "c.5793+7A>G" "r.(=)" "p.(=)" "" "0000968684" "00016899" "30" "5067" "0" "5067" "0" "c.5067C>T" "r.(?)" "p.(Thr1689=)" "" "0000968686" "00016899" "30" "4022" "11" "4022" "11" "c.4022+11G>A" "r.(=)" "p.(=)" "" "0000968687" "00016899" "30" "2298" "0" "2298" "0" "c.2298T>C" "r.(?)" "p.(=)" "" "0000968688" "00016899" "30" "1929" "0" "1929" "0" "c.1929C>T" "r.(?)" "p.(=)" "" "0000968689" "00016899" "30" "1666" "0" "1666" "0" "c.1666C>T" "r.(?)" "p.(=)" "" "0000982317" "00016899" "50" "6913" "0" "6915" "0" "c.6913_6915del" "r.(?)" "p.(Tyr2305del)" "" "0000985979" "00016899" "90" "6970" "0" "6970" "0" "c.6970G>T" "r.(?)" "p.(Glu2324*)" "" "0000987680" "00016899" "70" "6920" "0" "6922" "0" "c.6920_6922del" "r.(?)" "p.(Glu2307del)" "" "0000987681" "00016899" "70" "6920" "0" "6922" "0" "c.6920_6922del" "r.(?)" "p.(Glu2307del)" "" "0000987682" "00016899" "70" "6920" "0" "6922" "0" "c.6920_6922del" "r.(?)" "p.(Glu2307del)" "" "0000987683" "00016899" "70" "6920" "0" "6922" "0" "c.6920_6922del" "r.(?)" "p.(Glu2307del)" "" "0000987684" "00016899" "70" "6920" "0" "6922" "0" "c.6920_6922del" "r.(?)" "p.(Glu2307del)" "" "0000987685" "00016899" "70" "6920" "0" "6922" "0" "c.6920_6922del" "r.(?)" "p.(Glu2307del)" "" "0001002932" "00016899" "50" "7095" "0" "7095" "0" "c.*87T>G" "r.(=)" "p.(=)" "" "0001002933" "00016899" "50" "6815" "0" "6815" "0" "c.6815T>A" "r.(?)" "p.(Met2272Lys)" "" "0001002934" "00016899" "50" "6614" "0" "6614" "0" "c.6614C>T" "r.(?)" "p.(Ser2205Phe)" "" "0001002935" "00016899" "50" "5866" "0" "5866" "0" "c.5866C>G" "r.(?)" "p.(Pro1956Ala)" "" "0001002937" "00016899" "50" "3530" "0" "3530" "0" "c.3530T>C" "r.(?)" "p.(Val1177Ala)" "" "0001002938" "00016899" "50" "3176" "0" "3176" "0" "c.3176G>T" "r.(?)" "p.(Ser1059Ile)" "" "0001002939" "00016899" "30" "306" "0" "306" "0" "c.306C>T" "r.(?)" "p.(=)" "" "0001015473" "00016899" "30" "1869" "0" "1869" "0" "c.1869G>C" "r.(?)" "p.(Lys623Asn)" "" "0001015474" "00016899" "50" "583" "0" "583" "0" "c.583C>G" "r.(?)" "p.(Leu195Val)" "" "0001041624" "00016899" "50" "6200" "0" "6200" "0" "c.6200T>G" "r.(?)" "p.(Phe2067Cys)" "" "0001041625" "00016899" "30" "4131" "0" "4131" "0" "c.4131C>T" "r.(?)" "p.(=)" "" "0001041626" "00016899" "50" "2939" "0" "2939" "0" "c.2939G>A" "r.(?)" "p.(Arg980His)" "" "0001041627" "00016899" "50" "1121" "0" "1121" "0" "c.1121A>C" "r.(?)" "p.(Asp374Ala)" "" "0001041628" "00016899" "50" "890" "0" "890" "0" "c.890A>G" "r.(?)" "p.(Asn297Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 295 "{{screeningid}}" "{{variantid}}" "0000001609" "0000019513" "0000144825" "0000784150" "0000208629" "0000438549" "0000208643" "0000438565" "0000234541" "0000477249" "0000234542" "0000477250" "0000234543" "0000477251" "0000234544" "0000477252" "0000234545" "0000477253" "0000234546" "0000477254" "0000234547" "0000477255" "0000234548" "0000477256" "0000234549" "0000477257" "0000234550" "0000477258" "0000234551" "0000477259" "0000234552" "0000477260" "0000234553" "0000477261" "0000234554" "0000477262" "0000234555" "0000477263" "0000234556" "0000477264" "0000234557" "0000477265" "0000234558" "0000477266" "0000234559" "0000477267" "0000234560" "0000477268" "0000234561" "0000477269" "0000234895" "0000477603" "0000292805" "0000649494" "0000310458" "0000685369" "0000310459" "0000685370" "0000321198" "0000704004" "0000321200" "0000704006" "0000321201" "0000704007" "0000321202" "0000704008" "0000321203" "0000704009" "0000321204" "0000704010" "0000321205" "0000704011" "0000321206" "0000704012" "0000321207" "0000704013" "0000321208" "0000704014" "0000321209" "0000704015" "0000321210" "0000704016" "0000321211" "0000704017" "0000321212" "0000704018" "0000321213" "0000704019" "0000321214" "0000704020" "0000326709" "0000710301" "0000327897" "0000711690" "0000329547" "0000713670" "0000329623" "0000713971" "0000329624" "0000713972" "0000333725" "0000731488" "0000334578" "0000732457" "0000334582" "0000732474" "0000334662" "0000732650" "0000334663" "0000732636" "0000334805" "0000732812" "0000335078" "0000733087" "0000335203" "0000733212" "0000336447" "0000735822" "0000336527" "0000735923" "0000336538" "0000735934" "0000336643" "0000736088" "0000336795" "0000736331" "0000336796" "0000736332" "0000336797" "0000736333" "0000336798" "0000736334" "0000336799" "0000736335" "0000336876" "0000736414" "0000336877" "0000736415" "0000336878" "0000736416" "0000336879" "0000736417" "0000336880" "0000736418" "0000336961" "0000736501" "0000336962" "0000736502" "0000359963" "0000759594" "0000360026" "0000759668" "0000360162" "0000759889" "0000360344" "0000760236" "0000360396" "0000760288" "0000360405" "0000760297" "0000360419" "0000760311" "0000360560" "0000760592" "0000360613" "0000760655" "0000363491" "0000764184" "0000364617" "0000765482" "0000364737" "0000765641" "0000373868" "0000784181" "0000373869" "0000784182" "0000373870" "0000784183" "0000374717" "0000785540" "0000374722" "0000785545" "0000375166" "0000786461" "0000377491" "0000789849" "0000377980" "0000790430" "0000378395" "0000791150" "0000378616" "0000791465" "0000378617" "0000791466" "0000378618" "0000791467" "0000378930" "0000791920" "0000379018" "0000792039" "0000379019" "0000792040" "0000379020" "0000792041" "0000379021" "0000792042" "0000379151" "0000792248" "0000379152" "0000792249" "0000379153" "0000792250" "0000380619" "0000793771" "0000380620" "0000793772" "0000380755" "0000793945" "0000381065" "0000794360" "0000381066" "0000794361" "0000381377" "0000794804" "0000382228" "0000795944" "0000382930" "0000796896" "0000382991" "0000796969" "0000382992" "0000796970" "0000382993" "0000796971" "0000383022" "0000797006" "0000383023" "0000797007" "0000383131" "0000797123" "0000383796" "0000798054" "0000384678" "0000811439" "0000386238" "0000813645" "0000387516" "0000815440" "0000387789" "0000816302" "0000387814" "0000815972" "0000388020" "0000816178" "0000388031" "0000816189" "0000388066" "0000816224" "0000388217" "0000816676" "0000388218" "0000816677" "0000388219" "0000816678" "0000388220" "0000816679" "0000390574" "0000819919" "0000390842" "0000820187" "0000390843" "0000820188" "0000390904" "0000820249" "0000390910" "0000820255" "0000390911" "0000820256" "0000390924" "0000820269" "0000390942" "0000820287" "0000390994" "0000820339" "0000391213" "0000820558" "0000391222" "0000820567" "0000391594" "0000821343" "0000393379" "0000824122" "0000393404" "0000824160" "0000393513" "0000824275" "0000393559" 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