### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = TOPORS)
# 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}}"
"TOPORS" "topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase" "9" "p21" "unknown" "NG_017050.1" "UD_132118507153" "" "http://www.LOVD.nl/TOPORS" "" "1" "21653" "10210" "609507" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/TOPORS_NM_005802.4_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-02-13 00:00:00" "00006" "2015-02-28 14:08:22" "00006" "2025-04-07 13:47:05"
## 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}}"
"00021645" "TOPORS" "transcript variant 1" "002" "NM_005802.4" "" "NP_005793.2" "" "" "" "-192" "3981" "3138" "32552626" "32540542" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 5
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00058" "CORD" "dystrophy, cone-rod (CORD)" "" "" "" "" "" "00006" "2012-09-22 11:31:25" "00006" "2020-08-30 09:43:59"
"00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"02885" "RP31" "retinitis pigmentosa, type 31 (RP31)" "" "609923" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-04-09 15:05:56"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"TOPORS" "02885"
## Individuals ## Do not remove or alter this header ##
## Count = 148
"{{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}}"
"00033088" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" ""
"00033091" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" ""
"00033092" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" ""
"00033093" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" ""
"00033107" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" ""
"00033111" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" ""
"00033126" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" ""
"00033129" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" ""
"00033141" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" ""
"00173886" "" "" "" "1" "" "02449" "{PMID:Xu 2014:24938718}" "" "" "" "United States" "" "0" "" "" "" "RP282"
"00173892" "" "" "" "1" "" "02449" "{PMID:Wang 2014b:25097241}" "" "F" "" "United States" "" "0" "" "" "" "31"
"00233117" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1200 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233118" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233119" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233120" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233121" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233122" "" "" "" "6" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233123" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233124" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233125" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233126" "" "" "" "4" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233127" "" "" "" "7" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233128" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233129" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233130" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233765" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00294842" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00294843" "" "" "" "26" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00294844" "" "" "" "30" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00308569" "" "" "" "1" "" "00004" "{PMID:Holtan 2020:31429209}" "1 patient with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" ""
"00309431" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00309432" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00325514" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "family" "" "" "Mexico" "" "0" "" "" "" "EC17"
"00328092" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G005181"
"00328310" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "W000191"
"00333387" "" "" "" "1" "" "00000" "{PMID:Wang 2017:28838317}" "" "" "" "United States" "" "0" "" "" "" "RD14–07"
"00334571" "" "" "" "1" "" "00000" "{PMID:Vincent 2017:28488341}" "patient, no family history" "F" "no" "Samoa" "" "0" "" "" "" "349"
"00335171" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "family" "" "no" "Netherlands" "" "0" "" "" "" "9237"
"00335311" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "patient" "" "" "Spain" "" "0" "" "" "" "Pat50"
"00335438" "" "" "" "1" "" "00000" "{PMID:Huang 2018:29641573}" "" "" "" "" "" "0" "" "" "" "RP083"
"00335450" "" "" "" "2" "" "00006" "{PMID:Todorova 2017:28147405}" "2-generation family, 2 affected" "" "" "Switzerland" "" "0" "" "" "" "Fam6"
"00335590" "" "" "" "1" "" "00000" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Belgium" "" "0" "" "" "" "FAM_048"
"00359133" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13006275"
"00363393" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM785"
"00363396" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM654"
"00363422" "" "" "" "1" "" "00000" "{PMID:Coussa 2015:26720483}" "index patient" "" "" "Canada" "" "0" "" "" "French-Canadian" ""
"00363423" "" "" "" "1" "" "00000" "{PMID:Coussa 2015:26720483}" "index patient" "" "" "Canada" "" "0" "" "" "French-Canadian" ""
"00363424" "" "" "" "1" "" "00000" "{PMID:Coussa 2015:26720483}" "index patient" "" "" "Canada" "" "0" "" "" "French-Canadian" ""
"00372085" "" "" "" "1" "" "00000" "{PMID:Yoon 2015:26155838}" "family" "" "" "Korea" "" "0" "" "" "" "XF1"
"00372497" "" "" "" "1" "" "00000" "{PMID:Wang 2015:26047050}" "index case" "" "" "China" "" "0" "" "" "" "107"
"00372640" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "M" "" "China" "" "0" "" "" "" "RP316"
"00372641" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP021"
"00372668" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "M" "" "China" "" "0" "" "" "" "RP397"
"00373488" "" "" "" "2" "" "00000" "{PMID:Fernandez-San Jose 2015:25698705}" "family, 2 affected" "" "" "Spain" "" "0" "" "" "" "RP1608"
"00373869" "" "" "" "1" "" "00000" "{PMID:Zhao 2015:25472526}" "simplex case" "" "" "Northern Ireland" "" "0" "" "" "" "Rp201"
"00374930" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "F" "" "China" "" "0" "" "" "" "W136-1"
"00375291" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "family" "" "" "Japan" "" "0" "" "" "" "K6210"
"00376747" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "43"
"00376794" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "61"
"00376797" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "F" "" "United States" "" "0" "" "" "" "64"
"00377168" "" "" "" "2" "" "00000" "Tracewska 2021, MolVis in press" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "227"
"00377169" "" "" "00377168" "1" "" "00000" "Tracewska 2021, MolVis in press" "son" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "441"
"00377486" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "?"
"00377487" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "?"
"00377488" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "?"
"00379566" "" "" "" "1" "" "00000" "{PMID:O\'Sullivan-2012:22581970}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00381024" "" "" "" "1" "" "00000" "{PMID:Chen-2013:23462753}" "" "F" "" "China" "" "0" "" "" "Chinese" ""
"00381046" "" "" "" "1" "" "00000" "{PMID:Chen-2013:23661368}" "" "" "" "China" "" "0" "" "" "Chinese" ""
"00381056" "" "" "" "1" "" "00000" "{PMID:Chen-2013:23661368}" "" "" "" "China" "" "0" "" "" "Chinese" ""
"00381653" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "no" "Germany" "" "0" "" "" "" ""
"00381655" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "no" "Germany" "" "0" "" "" "" ""
"00381779" "" "" "" "1" "" "00000" "{PMID:Sullivan-2013:23950152}" "" "" "no" "" "" "0" "" "" "" ""
"00381780" "" "" "" "1" "" "00000" "{PMID:Sullivan-2013:23950152}" "" "" "no" "" "" "0" "" "" "" ""
"00381789" "" "" "" "1" "" "00000" "{PMID:Sullivan-2013:23950152}" "" "" "no" "" "" "0" "" "" "" ""
"00381911" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:30543658}" "" "F" "" "Germany" "" "0" "" "" "" "61"
"00381912" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:30543658}" "" "F" "" "Germany" "" "0" "" "" "" "62"
"00382440" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "269"
"00382605" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "468"
"00384504" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "15283"
"00386193" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-147, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-309"
"00389670" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 424, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "954"
"00389671" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 424, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "955"
"00389672" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 424, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "956"
"00389852" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 783, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1136"
"00389994" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 1095, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1278"
"00390004" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 1135, sporadic retinitis pigmentosa , no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1288"
"00390404" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G005181"
"00390405" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000191"
"00392326" "" "" "" "1" "" "00000" "{PMID:Xiao-2021:33598457}" "" "F" "" "China" "" "0" "" "" "" "19118"
"00392353" "" "" "" "1" "" "00000" "{PMID:Xiao-2021:33598457}" "" "M" "" "China" "" "0" "" "" "" "19364"
"00392389" "" "" "" "1" "" "00000" "{PMID:Xiao-2021:33598457}" "" "F" "" "China" "" "0" "" "" "" "19937"
"00392591" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "47"
"00394542" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" ""
"00396422" "" "" "" "1" "" "00006" "{PMID:Ellingford 2016:26872967}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "087384"
"00396596" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "M" "" "Japan" "" "0" "" "" "Japanese" ""
"00416568" "" "" "" "1" "" "00000" "{PMID:Chakarova 2007:17924349}" "family 1, individual II:1" "F" "" "" "" "0" "" "" "Canadian" "1_II:1"
"00416569" "" "" "" "1" "" "00000" "{PMID:Chakarova 2007:17924349}" "family 1, individual II:6" "F" "" "" "" "0" "" "" "Canadian" "1_II:6"
"00416570" "" "" "" "1" "" "00000" "{PMID:Chakarova 2007:17924349}" "family 1, individual III:1" "F" "" "" "" "0" "" "" "Canadian" "1_III:1"
"00416571" "" "" "" "1" "" "00000" "{PMID:Chakarova 2007:17924349}" "family 1, individual III:2" "M" "" "" "" "0" "" "" "Canadian" "1_III:2"
"00416572" "" "" "" "1" "" "00000" "{PMID:Chakarova 2007:17924349}" "family 1, individual III:4" "M" "" "" "" "0" "" "" "Canadian" "1_III:4"
"00416573" "" "" "" "1" "" "00000" "{PMID:Chakarova 2007:17924349}" "family 1, individual III:5" "F" "" "" "" "0" "" "" "Canadian" "1_III:5"
"00416574" "" "" "" "1" "" "00000" "{PMID:Chakarova 2007:17924349}" "family 1, individual III:6" "F" "" "" "" "0" "" "" "Canadian" "1_III:6"
"00416575" "" "" "" "1" "" "00000" "{PMID:Chakarova 2007:17924349}" "family 1, individual III:8" "F" "" "" "" "0" "" "" "Canadian" "1_III:8"
"00416576" "" "" "" "1" "" "00000" "{PMID:Chakarova 2007:17924349}" "family 1, individual III:16" "F" "" "" "" "0" "" "" "Canadian" "1_III:16"
"00416577" "" "" "" "1" "" "00000" "{PMID:Chakarova 2007:17924349}" "family 1, individual III:17" "F" "" "" "" "0" "" "" "Canadian" "1_III:17"
"00416578" "" "" "" "1" "" "00000" "{PMID:Chakarova 2007:17924349}" "family 1, individual III:18" "M" "" "" "" "0" "" "" "Canadian" "1_III:18"
"00416579" "" "" "" "1" "" "00000" "{PMID:Chakarova 2007:17924349}" "family 1, individual III:19" "M" "" "" "" "0" "" "" "Canadian" "1_III:19"
"00416580" "" "" "" "1" "" "00000" "{PMID:Chakarova 2007:17924349}" "family 1, individual IV:1" "M" "" "" "" "0" "" "" "Canadian" "1_IV:1"
"00416581" "" "" "" "1" "" "00000" "{PMID:Chakarova 2007:17924349}" "family 1, individual IV:2" "M" "" "" "" "0" "" "" "Canadian" "1_IV:2"
"00416582" "" "" "" "1" "" "00000" "{PMID:Chakarova 2007:17924349}" "family 1, individual IV:3" "M" "" "" "" "0" "" "" "Canadian" "1_IV:3"
"00416583" "" "" "" "1" "" "00000" "{PMID:Chakarova 2007:17924349}" "family 1, individual IV:4" "F" "" "" "" "0" "" "" "Canadian" "1_IV:4"
"00416584" "" "" "" "1" "" "00000" "{PMID:Chakarova 2007:17924349}" "family 1, individual IV:5" "M" "" "" "" "0" "" "" "Canadian" "1_IV:5"
"00416585" "" "" "" "1" "" "00000" "{PMID:Chakarova 2007:17924349}" "family 2, individual III:2" "M" "" "" "" "0" "" "" "German" "2_III:2"
"00416586" "" "" "" "1" "" "00000" "{PMID:Chakarova 2007:17924349}" "family 2, individual IV:1" "F" "" "" "" "0" "" "" "German" "2_IV:1"
"00416587" "" "" "" "1" "" "00000" "{PMID:Bowne 2008:18509552}" "family UTAD102, individual II:5 - proband; two brothers and three children diagnosed with RP" "M" "" "" "" "0" "" "" "Hispanic" "UTAD102_II:5"
"00416588" "" "" "" "1" "" "00000" "{PMID:Bowne 2008:18509552}" "family RFS169, individual IV:3 - proband" "M" "" "" "" "0" "" "" "white" "RFS169_IV:3"
"00416589" "" "" "" "1" "" "00000" "{PMID:Bowne 2008:18509552}" "family RFS169, individual III:1 - proband\'s mother" "F" "" "" "" "0" "" "" "" "RFS169_III:1"
"00416590" "" "" "" "1" "" "00000" "{PMID:Bowne 2008:18509552}" "family RFS169, individual III:5 - proband\'s maternal aunt 3" "F" "" "" "" "0" "" "" "" "RFS169_III:5"
"00416591" "" "" "" "1" "" "00000" "{PMID:Bowne 2008:18509552}" "family RFS169, individual IV:2 - proband\'s sister" "F" "" "" "" "0" "" "" "" "RFS169_IV:2"
"00416592" "" "" "" "1" "" "00000" "{PMID:Bowne 2008:18509552}" "family RFS169, individual IV:6 - proband\'s maternal aunt 3\'s son 1" "M" "" "" "" "0" "" "" "" "RFS169_IV:6"
"00416593" "" "" "" "1" "" "00000" "{PMID:Bowne 2008:18509552}" "family RFS169, individual IV:6 - proband\'s maternal aunt 3\'s son 2" "M" "" "" "" "0" "" "" "" "RFS169_IV:7"
"00416594" "" "" "" "1" "" "00000" "{PMID:Bowne 2008:18509552}" "family RFS169, individual IV:6 - proband\'s maternal aunt 3\'s son 3" "M" "" "" "" "0" "" "" "" "RFS169_IV:9"
"00416595" "" "" "" "1" "" "00000" "{PMID:Selmer 2010:19183411}" "7 generation large Norwegian family with pericentral retinal dystrophy" "F" "" "Norway" "" "0" "" "" "Norwegian" "VI:3"
"00416596" "" "" "" "1" "" "00000" "{PMID:Selmer 2010:19183411}" "7 generation large Norwegian family with pericentral retinal dystrophy" "F" "" "Norway" "" "0" "" "" "Norwegian" "VI:6"
"00416597" "" "" "" "1" "" "00000" "{PMID:Selmer 2010:19183411}" "7 generation large Norwegian family with pericentral retinal dystrophy" "F" "" "Norway" "" "0" "" "" "Norwegian" "VI:9"
"00416598" "" "" "" "1" "" "00000" "{PMID:Selmer 2010:19183411}" "7 generation large Norwegian family with pericentral retinal dystrophy" "F" "" "Norway" "" "0" "" "" "Norwegian" "VI:16"
"00416599" "" "" "" "1" "" "00000" "{PMID:Selmer 2010:19183411}" "7 generation large Norwegian family with pericentral retinal dystrophy" "M" "" "Norway" "" "0" "" "" "Norwegian" "VI:28"
"00416600" "" "" "" "1" "" "00000" "{PMID:Selmer 2010:19183411}" "7 generation large Norwegian family with pericentral retinal dystrophy" "F" "" "Norway" "" "0" "" "" "Norwegian" "VI:31"
"00416601" "" "" "" "1" "" "00000" "{PMID:Selmer 2010:19183411}" "7 generation large Norwegian family with pericentral retinal dystrophy" "F" "" "Norway" "" "0" "" "" "Norwegian" "VI:33"
"00416602" "" "" "" "1" "" "00000" "{PMID:Selmer 2010:19183411}" "7 generation large Norwegian family with pericentral retinal dystrophy" "M" "" "Norway" "" "0" "" "" "Norwegian" "VII:4"
"00416603" "" "" "" "1" "" "00000" "{PMID:Selmer 2010:19183411}" "7 generation large Norwegian family with pericentral retinal dystrophy" "F" "" "Norway" "" "0" "" "" "Norwegian" "VII:5"
"00416604" "" "" "" "1" "" "00000" "{PMID:Selmer 2010:19183411}" "7 generation large Norwegian family with pericentral retinal dystrophy" "M" "" "Norway" "" "0" "" "" "Norwegian" "VII:13"
"00416605" "" "" "" "1" "" "00000" "{PMID:Schob 2009:19373681}" "" "M" "" "" "" "0" "" "" "" "1"
"00416606" "" "" "" "1" "" "00000" "{PMID:Schob 2009:19373681}" "mother of 3" "F" "" "" "" "0" "" "" "" "2"
"00416607" "" "" "" "1" "" "00000" "{PMID:Schob 2009:19373681}" "son of 2" "M" "" "" "" "0" "" "" "" "3"
"00416609" "" "" "" "1" "" "00000" "{PMID:Latasiewicz 2017:28453362}" "mother of patient 2 and 3" "F" "" "" "" "0" "" "" "British white" "Patient 1"
"00416610" "" "" "" "1" "" "00000" "{PMID:Latasiewicz 2017:28453362}" "daughter of patient 1, sister of patient 3" "F" "" "" "" "0" "" "" "British white" "Patient 2"
"00416611" "" "" "" "1" "" "00000" "{PMID:Latasiewicz 2017:28453362}" "daughter of patient 1, sister of patient 2" "F" "" "" "" "0" "" "" "British white" "Patient 3"
"00429505" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" ""
"00430010" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" ""
"00430048" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" ""
"00430050" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" ""
"00430138" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" ""
"00430142" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" ""
"00446954" "" "" "" "3" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 3 affected" "M" "" "Germany" "" "0" "" "" "" "ADRP-504"
"00447007" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "ARRP-469"
"00447600" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "M" "" "Germany" "" "0" "" "" "" "SRP-1023"
"00447616" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "SRP-1243"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 148
"{{individualid}}" "{{diseaseid}}"
"00033088" "04214"
"00033091" "04214"
"00033092" "04214"
"00033093" "04214"
"00033107" "04214"
"00033111" "04214"
"00033126" "04214"
"00033129" "04214"
"00033141" "04214"
"00173886" "04214"
"00173892" "00058"
"00233117" "04214"
"00233118" "04214"
"00233119" "04214"
"00233120" "04214"
"00233121" "04214"
"00233122" "04214"
"00233123" "04214"
"00233124" "04214"
"00233125" "04214"
"00233126" "04214"
"00233127" "04214"
"00233128" "04214"
"00233129" "04214"
"00233130" "04214"
"00233765" "04214"
"00294842" "00198"
"00294843" "00198"
"00294844" "00198"
"00308569" "04214"
"00309431" "04214"
"00309432" "04214"
"00325514" "04214"
"00328092" "04214"
"00328310" "04214"
"00333387" "04214"
"00334571" "04214"
"00335171" "00198"
"00335311" "04214"
"00335438" "04214"
"00335450" "04214"
"00335590" "04214"
"00359133" "04214"
"00363393" "04214"
"00363396" "04214"
"00363422" "04214"
"00363423" "04214"
"00363424" "04214"
"00372085" "04214"
"00372497" "04214"
"00372640" "04214"
"00372641" "04214"
"00372668" "04214"
"00373488" "04214"
"00373869" "04214"
"00374930" "04214"
"00375291" "04214"
"00376747" "04214"
"00376794" "04214"
"00376797" "04214"
"00377168" "04214"
"00377169" "04214"
"00377486" "04214"
"00377487" "04214"
"00377488" "04214"
"00379566" "04214"
"00381024" "04214"
"00381046" "04214"
"00381056" "04214"
"00381653" "04214"
"00381655" "04214"
"00381779" "04214"
"00381780" "04214"
"00381789" "04214"
"00381911" "04214"
"00381912" "04214"
"00382440" "04214"
"00382605" "04214"
"00384504" "04214"
"00386193" "04214"
"00389670" "04214"
"00389671" "04214"
"00389672" "04214"
"00389852" "04214"
"00389994" "04214"
"00390004" "04214"
"00390404" "04214"
"00390405" "04214"
"00392326" "04214"
"00392353" "04214"
"00392389" "04214"
"00392591" "04214"
"00394542" "04214"
"00396422" "04214"
"00396596" "04214"
"00416568" "04214"
"00416569" "04214"
"00416570" "04214"
"00416571" "04214"
"00416572" "04214"
"00416573" "04214"
"00416574" "04214"
"00416575" "04214"
"00416576" "04214"
"00416577" "04214"
"00416578" "04214"
"00416579" "04214"
"00416580" "04214"
"00416581" "04214"
"00416582" "04214"
"00416583" "04214"
"00416584" "04214"
"00416585" "04214"
"00416586" "04214"
"00416587" "04214"
"00416588" "04214"
"00416589" "04214"
"00416590" "04214"
"00416591" "04214"
"00416592" "04214"
"00416593" "04214"
"00416594" "04214"
"00416595" "04214"
"00416596" "04214"
"00416597" "04214"
"00416598" "04214"
"00416599" "04214"
"00416600" "04214"
"00416601" "04214"
"00416602" "04214"
"00416603" "04214"
"00416604" "04214"
"00416605" "04214"
"00416606" "04214"
"00416607" "04214"
"00416609" "04214"
"00416610" "04214"
"00416611" "04214"
"00429505" "00112"
"00430010" "00112"
"00430048" "00112"
"00430050" "00112"
"00430138" "00112"
"00430142" "00112"
"00446954" "00198"
"00447007" "00198"
"00447600" "00198"
"00447616" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00058, 00112, 00198, 02885, 04214
## Count = 129
"{{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}}"
"0000026517" "04214" "00033088" "00229" "Unknown" "38y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000026520" "04214" "00033091" "00229" "Unknown" "<10y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000026521" "04214" "00033092" "00229" "Unknown" "20y" "hearing loss" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000026522" "04214" "00033093" "00229" "Unknown" "20y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000026536" "04214" "00033107" "00229" "Unknown" "25y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000026540" "04214" "00033111" "00229" "Unknown" "29y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000026555" "04214" "00033126" "00229" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000026558" "04214" "00033129" "00229" "Unknown" "" "onset childhood; retinal degeneration, severe, early onset (EOSRD); Leber congenital amaurosis; tinnitus: BAE normal" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000026570" "04214" "00033141" "00229" "Unknown" "16y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000138739" "04214" "00173886" "02449" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "RP-38" "retinitis pigmentosa/rod-cone dystrophy" ""
"0000138745" "00058" "00173892" "02449" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "conr-rod dystrophy" ""
"0000233997" "04214" "00308569" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000234751" "04214" "00309431" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000234752" "04214" "00309432" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000244001" "04214" "00325514" "00006" "Familial, autosomal dominant" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000246319" "04214" "00328092" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000246537" "04214" "00328310" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000251574" "04214" "00333387" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP" ""
"0000252611" "04214" "00334571" "00000" "Familial, autosomal recessive" "51y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000252886" "00198" "00335171" "00000" "Familial, autosomal dominant" "" "58y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000253026" "04214" "00335311" "02485" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000253384" "04214" "00335438" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000253395" "04214" "00335450" "00006" "Familial, autosomal dominant" "" "congenital nystagmus, rod-cone dystrophy, prominent optic disc with dilated, tortuous, with excessive branching pattern peri- papillary vessels" "" "" "" "" "" "" "" "" "" "" ""
"0000253535" "04214" "00335590" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000254430" "04214" "00359133" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" ""
"0000258758" "04214" "00363393" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" ""
"0000258761" "04214" "00363396" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" ""
"0000258783" "04214" "00363422" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000258784" "04214" "00363423" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000258785" "04214" "00363424" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000267414" "04214" "00372085" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000267812" "04214" "00372497" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" ""
"0000267919" "04214" "00372640" "00000" "Isolated (sporadic)" "19y" "see paper; ..." "11y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000267920" "04214" "00372641" "00000" "Familial, autosomal dominant" "39y" "see paper; ..." "20y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000267947" "04214" "00372668" "00000" "Familial, autosomal recessive" "6y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000268764" "04214" "00373488" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000269078" "04214" "00373869" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000270140" "04214" "00374930" "00000" "Familial, autosomal dominant" "42y" "best corrected visual acuity 0.8/0.7" "32y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000270505" "04214" "00375291" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000271958" "04214" "00376747" "00000" "Familial, autosomal dominant" "11y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, likely AD inheritance" ""
"0000272005" "04214" "00376794" "00000" "Unknown" "55y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000272008" "04214" "00376797" "00000" "Unknown" "24y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000272326" "04214" "00377168" "00000" "Familial, autosomal dominant" "35y" "see paper" "17y" "31y" "" "" "" "" "" "" "retinitis pigmentosa, type 31 (RP31)" "retinal disease" ""
"0000272327" "04214" "00377169" "00000" "Familial, autosomal dominant" "" "see paper" "10y" "10y" "" "" "" "" "" "" "retinitis pigmentosa, type 31 (RP31)" "retinal disease" ""
"0000272636" "04214" "00377486" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "RP33" "retinitis pigmentosa" ""
"0000272637" "04214" "00377487" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "RP33" "retinitis pigmentosa" ""
"0000272638" "04214" "00377488" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "RP33" "retinitis pigmentosa" ""
"0000274875" "04214" "00381024" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa (RP)" ""
"0000274897" "04214" "00381046" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" ""
"0000274907" "04214" "00381056" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" ""
"0000275495" "04214" "00381653" "00000" "Familial, autosomal dominant" "" "" "30y" "" "" "" "" "" "" "" "" "Autosomal dominant RP, adRP" ""
"0000275497" "04214" "00381655" "00000" "Familial, autosomal dominant" "" "" "59y" "" "" "" "" "" "" "" "" "Autosomal dominant RP, adRP" ""
"0000275621" "04214" "00381779" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" ""
"0000275622" "04214" "00381780" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" ""
"0000275631" "04214" "00381789" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa" ""
"0000275753" "04214" "00381911" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000275754" "04214" "00381912" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000276289" "04214" "00382440" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000276454" "04214" "00382605" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000278289" "04214" "00384504" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000279996" "04214" "00386193" "00000" "Familial, autosomal dominant" "18y" "" "" "16y" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000283211" "04214" "00389670" "00000" "Familial, autosomal dominant" "67y" "age at genetic diagnosis mentioned" "" "64y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" ""
"0000283212" "04214" "00389671" "00000" "Familial, autosomal dominant" "40y" "age at genetic diagnosis mentioned" "" "37y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" ""
"0000283213" "04214" "00389672" "00000" "Familial, autosomal dominant" "47y" "age at genetic diagnosis mentioned" "" "44y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" ""
"0000283393" "04214" "00389852" "00000" "Isolated (sporadic)" "67y" "age at genetic diagnosis mentioned" "" "60y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" ""
"0000283535" "04214" "00389994" "00000" "Isolated (sporadic)" "22y" "age at genetic diagnosis mentioned" "" "21y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" ""
"0000283545" "04214" "00390004" "00000" "Isolated (sporadic)" "65y" "age at genetic diagnosis mentioned" "" "57y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" ""
"0000283942" "04214" "00390404" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000283943" "04214" "00390405" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000285602" "04214" "00392326" "00000" "Familial, autosomal dominant" "22y" "best corrected visual acuity right/left eye: 0.5/0.3, electroretinograhy responses: not available" "<5y" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "Retinitis pigmentosa, autosomal dominant" ""
"0000285629" "04214" "00392353" "00000" "Familial, autosomal dominant" "29y" "best corrected visual acuity right/left eye: 0.8/0.8, electroretinograhy responses: not available" "<5y" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "Retinitis pigmentosa, autosomal dominant" ""
"0000285665" "04214" "00392389" "00000" "Familial, autosomal dominant" "30y" "best corrected visual acuity right/left eye: 0.7/0.7, electroretinograhy responses: extinguished" "20y" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "Retinitis pigmentosa, autosomal dominant" ""
"0000285838" "04214" "00392591" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000287745" "04214" "00394542" "00000" "Familial, autosomal dominant" "43y" "" "10y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" ""
"0000289584" "04214" "00396422" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000289757" "04214" "00396596" "00000" "Isolated (sporadic)" "44y" "night blindness" "30y" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" ""
"0000308288" "04214" "00416568" "00000" "Familial, autosomal dominant" "" "whole cohort description: age at onset: 10-50y, differed between the generations, three affected patients found to be asymptomatic with a completely normal retinal appearance; visual acuities (range 20/20 to finger counting); 16 of 17 had better than 20/40 acuity and 11 of 17 had 20/20 acuity at the most recent visit; visual-field sizes: 10-80 deg; electroretinography abnormalities: highly variable, with early rod dysfunction followed by cone defects; earliest sign of disease (found in four children) - an unusual perivascular cuff of retinal pigment epithelium atrophy, which was found surrounding the superior and inferior arcades; this progressed to a diffuse pigmentary retinopathy with choroidal sclerosis" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308289" "04214" "00416569" "00000" "Familial, autosomal dominant" "" "whole cohort description: age at onset: 10-50y, differed between the generations, three affected patients found to be asymptomatic with a completely normal retinal appearance; visual acuities (range 20/20 to finger counting); 16 of 17 had better than 20/40 acuity and 11 of 17 had 20/20 acuity at the most recent visit; visual-field sizes: 10-80 deg; electroretinography abnormalities: highly variable, with early rod dysfunction followed by cone defects; earliest sign of disease (found in four children) - an unusual perivascular cuff of retinal pigment epithelium atrophy, which was found surrounding the superior and inferior arcades; this progressed to a diffuse pigmentary retinopathy with choroidal sclerosis" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308290" "04214" "00416570" "00000" "Familial, autosomal dominant" "" "whole cohort description: age at onset: 10-50y, differed between the generations, three affected patients found to be asymptomatic with a completely normal retinal appearance; visual acuities (range 20/20 to finger counting); 16 of 17 had better than 20/40 acuity and 11 of 17 had 20/20 acuity at the most recent visit; visual-field sizes: 10-80 deg; electroretinography abnormalities: highly variable, with early rod dysfunction followed by cone defects; earliest sign of disease (found in four children) - an unusual perivascular cuff of retinal pigment epithelium atrophy, which was found surrounding the superior and inferior arcades; this progressed to a diffuse pigmentary retinopathy with choroidal sclerosis" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308291" "04214" "00416571" "00000" "Familial, autosomal dominant" "" "whole cohort description: age at onset: 10-50y, differed between the generations, three affected patients found to be asymptomatic with a completely normal retinal appearance; visual acuities (range 20/20 to finger counting); 16 of 17 had better than 20/40 acuity and 11 of 17 had 20/20 acuity at the most recent visit; visual-field sizes: 10-80 deg; electroretinography abnormalities: highly variable, with early rod dysfunction followed by cone defects; earliest sign of disease (found in four children) - an unusual perivascular cuff of retinal pigment epithelium atrophy, which was found surrounding the superior and inferior arcades; this progressed to a diffuse pigmentary retinopathy with choroidal sclerosis" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308292" "04214" "00416572" "00000" "Familial, autosomal dominant" "" "whole cohort description: age at onset: 10-50y, differed between the generations, three affected patients found to be asymptomatic with a completely normal retinal appearance; visual acuities (range 20/20 to finger counting); 16 of 17 had better than 20/40 acuity and 11 of 17 had 20/20 acuity at the most recent visit; visual-field sizes: 10-80 deg; electroretinography abnormalities: highly variable, with early rod dysfunction followed by cone defects; earliest sign of disease (found in four children) - an unusual perivascular cuff of retinal pigment epithelium atrophy, which was found surrounding the superior and inferior arcades; this progressed to a diffuse pigmentary retinopathy with choroidal sclerosis" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308293" "04214" "00416573" "00000" "Familial, autosomal dominant" "" "whole cohort description: age at onset: 10-50y, differed between the generations, three affected patients found to be asymptomatic with a completely normal retinal appearance; visual acuities (range 20/20 to finger counting); 16 of 17 had better than 20/40 acuity and 11 of 17 had 20/20 acuity at the most recent visit; visual-field sizes: 10-80 deg; electroretinography abnormalities: highly variable, with early rod dysfunction followed by cone defects; earliest sign of disease (found in four children) - an unusual perivascular cuff of retinal pigment epithelium atrophy, which was found surrounding the superior and inferior arcades; this progressed to a diffuse pigmentary retinopathy with choroidal sclerosis" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308294" "04214" "00416574" "00000" "Familial, autosomal dominant" "" "whole cohort description: age at onset: 10-50y, differed between the generations, three affected patients found to be asymptomatic with a completely normal retinal appearance; visual acuities (range 20/20 to finger counting); 16 of 17 had better than 20/40 acuity and 11 of 17 had 20/20 acuity at the most recent visit; visual-field sizes: 10-80 deg; electroretinography abnormalities: highly variable, with early rod dysfunction followed by cone defects; earliest sign of disease (found in four children) - an unusual perivascular cuff of retinal pigment epithelium atrophy, which was found surrounding the superior and inferior arcades; this progressed to a diffuse pigmentary retinopathy with choroidal sclerosis" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308295" "04214" "00416575" "00000" "Familial, autosomal dominant" "" "whole cohort description: age at onset: 10-50y, differed between the generations, three affected patients found to be asymptomatic with a completely normal retinal appearance; visual acuities (range 20/20 to finger counting); 16 of 17 had better than 20/40 acuity and 11 of 17 had 20/20 acuity at the most recent visit; visual-field sizes: 10-80 deg; electroretinography abnormalities: highly variable, with early rod dysfunction followed by cone defects; earliest sign of disease (found in four children) - an unusual perivascular cuff of retinal pigment epithelium atrophy, which was found surrounding the superior and inferior arcades; this progressed to a diffuse pigmentary retinopathy with choroidal sclerosis" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308296" "04214" "00416576" "00000" "Familial, autosomal dominant" "" "whole cohort description: age at onset: 10-50y, differed between the generations, three affected patients found to be asymptomatic with a completely normal retinal appearance; visual acuities (range 20/20 to finger counting); 16 of 17 had better than 20/40 acuity and 11 of 17 had 20/20 acuity at the most recent visit; visual-field sizes: 10-80 deg; electroretinography abnormalities: highly variable, with early rod dysfunction followed by cone defects; earliest sign of disease (found in four children) - an unusual perivascular cuff of retinal pigment epithelium atrophy, which was found surrounding the superior and inferior arcades; this progressed to a diffuse pigmentary retinopathy with choroidal sclerosis" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308297" "04214" "00416577" "00000" "Familial, autosomal dominant" "" "whole cohort description: age at onset: 10-50y, differed between the generations, three affected patients found to be asymptomatic with a completely normal retinal appearance; visual acuities (range 20/20 to finger counting); 16 of 17 had better than 20/40 acuity and 11 of 17 had 20/20 acuity at the most recent visit; visual-field sizes: 10-80 deg; electroretinography abnormalities: highly variable, with early rod dysfunction followed by cone defects; earliest sign of disease (found in four children) - an unusual perivascular cuff of retinal pigment epithelium atrophy, which was found surrounding the superior and inferior arcades; this progressed to a diffuse pigmentary retinopathy with choroidal sclerosis" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308298" "04214" "00416578" "00000" "Familial, autosomal dominant" "" "whole cohort description: age at onset: 10-50y, differed between the generations, three affected patients found to be asymptomatic with a completely normal retinal appearance; visual acuities (range 20/20 to finger counting); 16 of 17 had better than 20/40 acuity and 11 of 17 had 20/20 acuity at the most recent visit; visual-field sizes: 10-80 deg; electroretinography abnormalities: highly variable, with early rod dysfunction followed by cone defects; earliest sign of disease (found in four children) - an unusual perivascular cuff of retinal pigment epithelium atrophy, which was found surrounding the superior and inferior arcades; this progressed to a diffuse pigmentary retinopathy with choroidal sclerosis" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308299" "04214" "00416579" "00000" "Familial, autosomal dominant" "" "whole cohort description: age at onset: 10-50y, differed between the generations, three affected patients found to be asymptomatic with a completely normal retinal appearance; visual acuities (range 20/20 to finger counting); 16 of 17 had better than 20/40 acuity and 11 of 17 had 20/20 acuity at the most recent visit; visual-field sizes: 10-80 deg; electroretinography abnormalities: highly variable, with early rod dysfunction followed by cone defects; earliest sign of disease (found in four children) - an unusual perivascular cuff of retinal pigment epithelium atrophy, which was found surrounding the superior and inferior arcades; this progressed to a diffuse pigmentary retinopathy with choroidal sclerosis" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308300" "04214" "00416580" "00000" "Familial, autosomal dominant" "" "whole cohort description: age at onset: 10-50y, differed between the generations, three affected patients found to be asymptomatic with a completely normal retinal appearance; visual acuities (range 20/20 to finger counting); 16 of 17 had better than 20/40 acuity and 11 of 17 had 20/20 acuity at the most recent visit; visual-field sizes: 10-80 deg; electroretinography abnormalities: highly variable, with early rod dysfunction followed by cone defects; earliest sign of disease (found in four children) - an unusual perivascular cuff of retinal pigment epithelium atrophy, which was found surrounding the superior and inferior arcades; this progressed to a diffuse pigmentary retinopathy with choroidal sclerosis" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308301" "04214" "00416581" "00000" "Familial, autosomal dominant" "" "whole cohort description: age at onset: 10-50y, differed between the generations, three affected patients found to be asymptomatic with a completely normal retinal appearance; visual acuities (range 20/20 to finger counting); 16 of 17 had better than 20/40 acuity and 11 of 17 had 20/20 acuity at the most recent visit; visual-field sizes: 10-80 deg; electroretinography abnormalities: highly variable, with early rod dysfunction followed by cone defects; earliest sign of disease (found in four children) - an unusual perivascular cuff of retinal pigment epithelium atrophy, which was found surrounding the superior and inferior arcades; this progressed to a diffuse pigmentary retinopathy with choroidal sclerosis" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308302" "04214" "00416582" "00000" "Familial, autosomal dominant" "" "whole cohort description: age at onset: 10-50y, differed between the generations, three affected patients found to be asymptomatic with a completely normal retinal appearance; visual acuities (range 20/20 to finger counting); 16 of 17 had better than 20/40 acuity and 11 of 17 had 20/20 acuity at the most recent visit; visual-field sizes: 10-80 deg; electroretinography abnormalities: highly variable, with early rod dysfunction followed by cone defects; earliest sign of disease (found in four children) - an unusual perivascular cuff of retinal pigment epithelium atrophy, which was found surrounding the superior and inferior arcades; this progressed to a diffuse pigmentary retinopathy with choroidal sclerosis" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308303" "04214" "00416583" "00000" "Familial, autosomal dominant" "" "whole cohort description: age at onset: 10-50y, differed between the generations, three affected patients found to be asymptomatic with a completely normal retinal appearance; visual acuities (range 20/20 to finger counting); 16 of 17 had better than 20/40 acuity and 11 of 17 had 20/20 acuity at the most recent visit; visual-field sizes: 10-80 deg; electroretinography abnormalities: highly variable, with early rod dysfunction followed by cone defects; earliest sign of disease (found in four children) - an unusual perivascular cuff of retinal pigment epithelium atrophy, which was found surrounding the superior and inferior arcades; this progressed to a diffuse pigmentary retinopathy with choroidal sclerosis" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308304" "04214" "00416584" "00000" "Familial, autosomal dominant" "" "whole cohort description: age at onset: 10-50y, differed between the generations, three affected patients found to be asymptomatic with a completely normal retinal appearance; visual acuities (range 20/20 to finger counting); 16 of 17 had better than 20/40 acuity and 11 of 17 had 20/20 acuity at the most recent visit; visual-field sizes: 10-80 deg; electroretinography abnormalities: highly variable, with early rod dysfunction followed by cone defects; earliest sign of disease (found in four children) - an unusual perivascular cuff of retinal pigment epithelium atrophy, which was found surrounding the superior and inferior arcades; this progressed to a diffuse pigmentary retinopathy with choroidal sclerosis" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308305" "04214" "00416585" "00000" "Familial, autosomal dominant" "" "whole cohort description: age at onset: 10-50y, differed between the generations, three affected patients found to be asymptomatic with a completely normal retinal appearance; visual acuities (range 20/20 to finger counting); 16 of 17 had better than 20/40 acuity and 11 of 17 had 20/20 acuity at the most recent visit; visual-field sizes: 10-80 deg; electroretinography abnormalities: highly variable, with early rod dysfunction followed by cone defects; earliest sign of disease (found in four children) - an unusual perivascular cuff of retinal pigment epithelium atrophy, which was found surrounding the superior and inferior arcades; this progressed to a diffuse pigmentary retinopathy with choroidal sclerosis" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308306" "04214" "00416586" "00000" "Familial, autosomal dominant" "" "whole cohort description: age at onset: 10-50y, differed between the generations, three affected patients found to be asymptomatic with a completely normal retinal appearance; visual acuities (range 20/20 to finger counting); 16 of 17 had better than 20/40 acuity and 11 of 17 had 20/20 acuity at the most recent visit; visual-field sizes: 10-80 deg; electroretinography abnormalities: highly variable, with early rod dysfunction followed by cone defects; earliest sign of disease (found in four children) - an unusual perivascular cuff of retinal pigment epithelium atrophy, which was found surrounding the superior and inferior arcades; this progressed to a diffuse pigmentary retinopathy with choroidal sclerosis" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308307" "04214" "00416587" "00000" "Familial, autosomal dominant" "52y" "visual acuity: hand motion in both eyes; fundus: extensive bone-spicule-like pigment deposits and severely attenuated blood vessels bilaterally, consistent with end stage RP; optic disc pallor, macular retinal pigment epithelium atrophy; Goldman visual fields not possible due to the patient���s poo" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308308" "04214" "00416588" "00000" "Familial, autosomal dominant" "31y" "major complaint: difficulty going down steps and curbs in dim light or at night; peripheral vision poor, frequent inability to locate objects; best corrected visual acuity right, left eye: 20/20���2, 20/20���2; slit lamp findings: normal bilaterally; ophthalmoscopy: clear vitreous both eyes, normal discs; both maculae normal without edema; the midperiphery: numerous bone-spicule-like pigment deposits; retinal arterioles: slightly narrowed by comparison to the veins; static perimetry: sensitivity was minimally disturbed in the fovea and central 15 deg; sensitivity zero at most locations beyond 7.5 deg eccentricity, region of preserved function in the lower temporal field; visual thresholds following 45 min of dark adaptation: elevated by 1.5 log unit; full-field electroretinograms: standard rod response was not detectable; the maximum rod photoresponse to a 4.2 log scot td-sec flash:10 uV, compared to a lower limit of normal of 155 uV, cone b-wave amplitude to 31 Hz flicker was 6.4 uV, compared to normal of 35 uV., cone b-wave implicit time delayed by 9.3 msec; the maximum cone photoresponse obtained in the presence of a 3.2 log td background:7.7 uV, compared to a lower limit of normal of 33.7 uV" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308309" "04214" "00416589" "00000" "Familial, autosomal dominant" "60y" "extremely poor vision" "20y" "" "severe night blindness" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308310" "04214" "00416590" "00000" "Familial, autosomal dominant" "66y" "asymptomatic; 66y: self-reported questionnaire, no trouble with vision other than glasses needed for acuity correction, no trouble seeing at night or with her peripheral vision" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308311" "04214" "00416591" "00000" "Familial, autosomal dominant" "41y" "night vision and side vision impairment, poor central vision; ophthalmoscopy: clear vitreous both eyes and normal discs; both maculae: normal without edema; the midperiphery - numerous bone-spicule-like pigment deposits; retinal arterioles were - slightly narrowed by comparison to the veins; best corrected visual acuity right, left eye: 20/20-2, 20/20-2; visual field: Humphrey perimetric values could only be obtained from the central four locations on the 30-2 field; all locations decreased in sensitivity by at least 20 dB with the exception of the fovea, where sensitivity within the normal range; full-field electroretinograms: standard rod response was not detectable, as was the maximum rod photoresponse; cone b-wave amplitude to 31 Hz flicker was 0.5 uV, compared to a lower limit of normal of 35 uV; cone b-wave implicit time was within the normal range" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308312" "04214" "00416592" "00000" "Familial, autosomal dominant" "42y" "best corrected visual acuity: 20/20; severe field constriction (reported - no fields testing history available); fundus: crescent-like areas of atrophy around the arcades" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308313" "04214" "00416593" "00000" "Familial, autosomal dominant" "30y" "best corrected visual acuity: 20/30 both eyes; Humphrey fields: <10 degrees in each eye,;standard electroretinograms (no computer averaging): not detectable; fundus: typical for RP; no note of atrophy around the arcade vessels" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308314" "04214" "00416594" "00000" "Familial, autosomal dominant" "32y" "best corrected visual acuity: 20/150 both eyes; long history of keratoconus with corneal grafts in each eye; due to these corneal problems, no fundus or visual field information available" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308315" "04214" "00416595" "00000" "Familial, autosomal dominant" "62y" "best corrected visual acuity right / left eye: 0.8 / 0.8, 0.1; refractive error: right, left eye: not available, not available; fundus appearance both eyes: macular degeneration, waxy optic disk, artery attenuation, pigment deposits; electroretinogram: diminished; visual field, V-4e: 45 (9-36); full-field electroretinogram amplitude (uV), rod: non-recordable, cone: 12; Goldmann-Weeker\'s dark adaptation, elevation of rod final threshold in log units: 2.9; Farnsworth D-15 colour vision test: no defect" "30y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308316" "04214" "00416596" "00000" "Familial, autosomal dominant" "51y" "best corrected visual acuity right / left eye: 0.6 / 0.8, 0.6; refractive error: right, left eye: -1.75 DS , -2.25 DS; fundus appearance both eyes: macular degeneration, waxy optic disk, artery attenuation, pigment deposits; electroretinogram: diminished; visual field, V-4e: 62 (10-23); full-field electroretinogram amplitude (uV), rod: 21, cone: 22; Goldmann-Weeker\'s dark adaptation, elevation of rod final threshold in log units: 1.9; Farnsworth D-15 colour vision test: no defect" "20y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308317" "04214" "00416597" "00000" "Familial, autosomal dominant" "55y" "best corrected visual acuity right / left eye: 0.5 / 1.0, 0.5; refractive error: right, left eye: -1.50 DS , -2.00 DS; fundus appearance both eyes: macular degeneration, waxy optic disk, artery attenuation, pigment deposits; electroretinogram: diminished; visual field, V-4e: 58 (9-27); full-field electroretinogram amplitude (uV), rod: 17, cone: 17; Goldmann-Weeker\'s dark adaptation, elevation of rod final threshold in log units: 2; Farnsworth D-15 colour vision test: minor defect" "<18y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308318" "04214" "00416598" "00000" "Familial, autosomal dominant" "78y" "best corrected visual acuity right / left eye: 0.5 / 0.6, 1; refractive error: right, left eye:-0.50 DS , -1.00 DS/-0.50 DCx120; fundus appearance both eyes: normal; electroretinogram: reduced; visual field, V-4e: 44 (5-19); full-field electroretinogram amplitude (uV), rod: not available; Goldmann-Weeker\'s dark adaptation, elevation of rod final threshold in log units: 2.9; Farnsworth D-15 colour vision test: tritan" "50y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308319" "04214" "00416599" "00000" "Familial, autosomal dominant" "64y" "best corrected visual acuity right / left eye: 0.8 / 0.8; visual field, I-4e: 50 (4-23); full-field electroretinogram amplitude (uV), rod: 32, cone: 33; Goldmann-Weeker\'s dark adaptation, elevation of rod final threshold in log units: 2.1; Farnsworth D-15 colour vision test: no defect" "30y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308320" "04214" "00416600" "00000" "Familial, autosomal dominant" "58y" "best corrected visual acuity right / left eye: 1.0 / 1.0; visual field, V-4e: 56, other: II-4e: 44 (7-15); full-field electroretinogram amplitude (uV), rod: not available; Farnsworth D-15 colour vision test: no defect" "30y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308321" "04214" "00416601" "00000" "Familial, autosomal dominant" "66y" "best corrected visual acuity right / left eye: 0.2 / light perception; full-field electroretinogram amplitude (uV), rod: 28, cone: 38" "25y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308322" "04214" "00416602" "00000" "Familial, autosomal dominant" "23y" "best corrected visual acuity right / left eye: 1.2 / 1.2, other: II-4e: 55, II-2e: 36; full-field electroretinogram amplitude (uV), rod: 101, cone: 100; Goldmann-Weeker\'s dark adaptation, elevation of rod final threshold in log units: 0; Farnsworth D-15 colour vision test: no defect" "20y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308323" "04214" "00416603" "00000" "Familial, autosomal dominant" "27y" "best corrected visual acuity right / left eye: 1.0 / 1.0; visual field, I-4e: 55 (10-15); full-field electroretinogram amplitude (uV), rod: 50, cone: 78; Goldmann-Weeker\'s dark adaptation, elevation of rod final threshold in log units: 0.3; Farnsworth D-15 colour vision test: no defect" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308324" "04214" "00416604" "00000" "Familial, autosomal dominant" "29y" "best corrected visual acuity right / left eye: 1.0 / 1.0; visual field, I-4e: 51 (6-14); full-field electroretinogram amplitude (uV), rod: 120, cone: 79; Farnsworth D-15 colour vision test: no defect" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308325" "04214" "00416605" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308326" "04214" "00416606" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308327" "04214" "00416607" "00000" "Familial, autosomal dominant" "10y" "a- or presymptomatic" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308329" "04214" "00416609" "00000" "Familial, autosomal dominant" "59y" "best corrected visual acuity: light perception; fundus: very advanced disease with diffuse spicule-like changes in the whole periphery protruding toward the vascular arcades; attenuation of the vessels; autofluorescence: diffuse hypofluoresence along the vascular arcades in a pattern consistent with retinal pigment epithelium cells loss, partially preserved in the macula but lost in the area of highest rod density, a circular dark area of hypofluorescence at the end of the superior vascular arcade in the right eye, corresponding to an area of retinal pigment epithelium atrophy; optic coherence tomography: preservation of the inner retina, thinning of the outer plexiform layer, and disappearance of the outer retinal layers (myoid, ellipsoid, outer segment, and interdigitation layers)" "" "30y" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308330" "04214" "00416610" "00000" "Familial, autosomal dominant" "40y" "best-corrected visual acuity: 6/6 both eyes; fundus: intermediate stage of the disease, with vascular attenuation and atrophy in the periphery, but only a few pigmented spiculae due to early pigment migration along the capillaries in the inner retina; autofluorescence: clear hyperautofluorescent ring surrounding the fovea and encircling a preserved area, consistent with an abnormal shedding of the disc membranes and the consequent degradation of the photoreceptor outer segments" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000308331" "04214" "00416611" "00000" "Familial, autosomal dominant" "37y" "best-corrected visual acuity: 6/9 both eyes; fundus: widespread spiculae peripherally; autofluorescence: macula: an external hypoautofluorescence ring in the area of maximal rod density that corresponded to photoreceptor layer loss on the optic coherence tomography scans, internal hyperautofluorescence ring encircled a residual small central island of preserved photoreceptors that was consistent with a BCVA of 6/9" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000320377" "00112" "00429505" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320882" "00112" "00430010" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320920" "00112" "00430048" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000320922" "00112" "00430050" "04436" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000321010" "00112" "00430138" "04436" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000321014" "00112" "00430142" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000336153" "00198" "00446954" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal dominant" ""
"0000336206" "00198" "00447007" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" ""
"0000336799" "00198" "00447600" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" ""
"0000336815" "00198" "00447616" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" ""
## Screenings ## Do not remove or alter this header ##
## Count = 148
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000033156" "00033088" "1" "00229" "00229" "2012-03-02 16:00:54" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" ""
"0000033159" "00033091" "1" "00229" "00229" "2012-02-04 16:07:37" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" ""
"0000033160" "00033092" "1" "00229" "00229" "2012-02-13 08:29:44" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" ""
"0000033161" "00033093" "1" "00229" "00229" "2012-02-04 14:23:49" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" ""
"0000033175" "00033107" "1" "00229" "00229" "2012-02-04 14:49:23" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" ""
"0000033179" "00033111" "1" "00229" "00229" "2012-03-02 16:00:54" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" ""
"0000033194" "00033126" "1" "00229" "00229" "2012-02-04 15:20:01" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" ""
"0000033197" "00033129" "1" "00229" "00229" "2012-02-04 16:10:11" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" ""
"0000033209" "00033141" "1" "00229" "00229" "2012-02-04 15:42:15" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" ""
"0000174776" "00173886" "1" "02449" "02449" "2018-04-11 18:11:48" "" "" "SEQ" "DNA" "" ""
"0000174782" "00173892" "1" "02449" "02449" "2018-04-11 18:11:48" "" "" "SEQ" "DNA" "" ""
"0000234216" "00233117" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234217" "00233118" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234218" "00233119" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234219" "00233120" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234220" "00233121" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234221" "00233122" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234222" "00233123" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234223" "00233124" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234224" "00233125" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234225" "00233126" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234226" "00233127" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234227" "00233128" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234228" "00233129" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234229" "00233130" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234864" "00233765" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000296010" "00294842" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000296011" "00294843" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000296012" "00294844" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000309714" "00308569" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" ""
"0000310576" "00309431" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310577" "00309432" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000326725" "00325514" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel"
"0000329307" "00328092" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000329525" "00328310" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000334612" "00333387" "1" "00000" "00006" "2021-02-25 11:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "184-gene panel"
"0000335800" "00334571" "1" "00000" "00006" "2021-03-01 15:50:09" "" "" "SEQ-NG" "DNA" "" "105-gene panel"
"0000336400" "00335171" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000336540" "00335311" "1" "02485" "00006" "2021-03-04 16:18:39" "" "" "SEQ-NG" "DNA" "" "68-gene panel"
"0000336667" "00335438" "1" "00000" "00006" "2021-03-05 16:19:42" "" "" "SEQ-NG" "DNA" "" "283-gene panel"
"0000336679" "00335450" "1" "00006" "00006" "2021-03-05 17:05:57" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000336818" "00335590" "1" "00000" "00006" "2021-03-07 17:58:39" "" "" "SEQ" "DNA" "" ""
"0000360371" "00359133" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel"
"0000364621" "00363393" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES"
"0000364624" "00363396" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES"
"0000364650" "00363422" "1" "00000" "00006" "2021-04-27 10:42:53" "" "" "SEQ" "DNA" "" "gene panel"
"0000364651" "00363423" "1" "00000" "00006" "2021-04-27 10:42:53" "" "" "SEQ" "DNA" "" "gene panel"
"0000364652" "00363424" "1" "00000" "00006" "2021-04-27 10:42:53" "" "" "SEQ" "DNA" "" "gene panel"
"0000373313" "00372085" "1" "00000" "00006" "2021-05-06 19:05:11" "" "" "SEQ-NG" "DNA" "" "53-gene panel"
"0000373730" "00372497" "1" "00000" "00006" "2021-05-08 09:43:10" "" "" "SEQ-NG" "DNA" "" "163-gene panel"
"0000373872" "00372640" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000373873" "00372641" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000373900" "00372668" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000374723" "00373488" "1" "00000" "00006" "2021-05-14 16:56:19" "" "" "SEQ-NG" "DNA" "" "73-gene panel"
"0000375101" "00373869" "1" "00000" "00006" "2021-05-21 13:56:05" "" "" "SEQ-NG" "DNA" "" "86-gene panel"
"0000376124" "00374930" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel"
"0000376488" "00375291" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel"
"0000377953" "00376747" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel"
"0000378000" "00376794" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel"
"0000378003" "00376797" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel"
"0000378373" "00377168" "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"
"0000378374" "00377169" "1" "00000" "03840" "2021-07-16 14:18:12" "" "" "SEQ" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel"
"0000378689" "00377486" "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"
"0000378690" "00377487" "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"
"0000378691" "00377488" "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"
"0000380765" "00379566" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "SEQ-NG" "DNA" "blood" ""
"0000382238" "00381024" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "arraySEQ;SEQ;PCR" "DNA" "blood" ""
"0000382260" "00381046" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" ""
"0000382270" "00381056" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ" "DNA" "blood" ""
"0000382869" "00381653" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382871" "00381655" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" ""
"0000382995" "00381779" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ;PCR" "DNA" "blood" ""
"0000382996" "00381780" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ;PCR" "DNA" "blood" ""
"0000383005" "00381789" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ;PCR" "DNA" "blood" ""
"0000383127" "00381911" "1" "00000" "03840" "2021-09-06 14:05:57" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383128" "00381912" "1" "00000" "03840" "2021-09-06 14:05:57" "" "" "SEQ-NG" "DNA" "blood" ""
"0000383654" "00382440" "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"
"0000383819" "00382605" "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"
"0000385729" "00384504" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000387422" "00386193" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000390913" "00389670" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing"
"0000390914" "00389671" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing"
"0000390915" "00389672" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper"
"0000391095" "00389852" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper"
"0000391237" "00389994" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper"
"0000391247" "00390004" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper"
"0000391645" "00390404" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000391646" "00390405" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000393568" "00392326" "1" "00000" "03840" "2021-11-22 16:18:49" "" "" "SEQ-NG" "DNA" "blood" "gene panel testing"
"0000393595" "00392353" "1" "00000" "03840" "2021-11-22 16:18:49" "" "" "SEQ-NG" "DNA" "blood" "gene panel testing"
"0000393631" "00392389" "1" "00000" "03840" "2021-11-22 16:18:49" "" "" "SEQ-NG" "DNA" "blood" "gene panel testing"
"0000393838" "00392591" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing"
"0000395789" "00394542" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" ""
"0000397663" "00396422" "1" "00006" "00006" "2021-12-15 14:29:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS"
"0000397839" "00396596" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000417850" "00416568" "1" "00000" "03840" "2022-09-05 14:43:53" "" "" "STR;SEQ-NG;SEQ" "DNA" "" ""
"0000417851" "00416569" "1" "00000" "03840" "2022-09-05 14:43:53" "" "" "STR;SEQ-NG;SEQ" "DNA" "" ""
"0000417852" "00416570" "1" "00000" "03840" "2022-09-05 14:43:53" "" "" "STR;SEQ-NG;SEQ" "DNA" "" ""
"0000417853" "00416571" "1" "00000" "03840" "2022-09-05 14:43:53" "" "" "STR;SEQ-NG;SEQ" "DNA" "" ""
"0000417854" "00416572" "1" "00000" "03840" "2022-09-05 14:43:53" "" "" "STR;SEQ-NG;SEQ" "DNA" "" ""
"0000417855" "00416573" "1" "00000" "03840" "2022-09-05 14:43:53" "" "" "STR;SEQ-NG;SEQ" "DNA" "" ""
"0000417856" "00416574" "1" "00000" "03840" "2022-09-05 14:43:53" "" "" "STR;SEQ-NG;SEQ" "DNA" "" ""
"0000417857" "00416575" "1" "00000" "03840" "2022-09-05 14:43:53" "" "" "STR;SEQ-NG;SEQ" "DNA" "" ""
"0000417858" "00416576" "1" "00000" "03840" "2022-09-05 14:43:53" "" "" "STR;SEQ-NG;SEQ" "DNA" "" ""
"0000417859" "00416577" "1" "00000" "03840" "2022-09-05 14:43:53" "" "" "STR;SEQ-NG;SEQ" "DNA" "" ""
"0000417860" "00416578" "1" "00000" "03840" "2022-09-05 14:43:53" "" "" "STR;SEQ-NG;SEQ" "DNA" "" ""
"0000417861" "00416579" "1" "00000" "03840" "2022-09-05 14:43:53" "" "" "STR;SEQ-NG;SEQ" "DNA" "" ""
"0000417862" "00416580" "1" "00000" "03840" "2022-09-05 14:43:53" "" "" "STR;SEQ-NG;SEQ" "DNA" "" ""
"0000417863" "00416581" "1" "00000" "03840" "2022-09-05 14:43:53" "" "" "STR;SEQ-NG;SEQ" "DNA" "" ""
"0000417864" "00416582" "1" "00000" "03840" "2022-09-05 14:43:53" "" "" "STR;SEQ-NG;SEQ" "DNA" "" ""
"0000417865" "00416583" "1" "00000" "03840" "2022-09-05 14:43:53" "" "" "STR;SEQ-NG;SEQ" "DNA" "" ""
"0000417866" "00416584" "1" "00000" "03840" "2022-09-05 14:43:53" "" "" "STR;SEQ-NG;SEQ" "DNA" "" ""
"0000417867" "00416585" "1" "00000" "03840" "2022-09-05 14:43:53" "" "" "STR;SEQ-NG;SEQ" "DNA" "" ""
"0000417868" "00416586" "1" "00000" "03840" "2022-09-05 14:43:53" "" "" "STR;SEQ-NG;SEQ" "DNA" "" ""
"0000417869" "00416587" "1" "00000" "03840" "2022-09-05 15:54:25" "" "" "SEQ" "DNA" "" ""
"0000417870" "00416588" "1" "00000" "03840" "2022-09-05 15:54:25" "" "" "SEQ" "DNA" "" ""
"0000417871" "00416589" "1" "00000" "03840" "2022-09-05 15:54:25" "" "" "SEQ" "DNA" "" ""
"0000417872" "00416590" "1" "00000" "03840" "2022-09-05 15:54:25" "" "" "SEQ" "DNA" "" ""
"0000417873" "00416591" "1" "00000" "03840" "2022-09-05 15:54:25" "" "" "SEQ" "DNA" "" ""
"0000417874" "00416592" "1" "00000" "03840" "2022-09-05 15:54:25" "" "" "SEQ" "DNA" "" ""
"0000417875" "00416593" "1" "00000" "03840" "2022-09-05 15:54:25" "" "" "SEQ" "DNA" "" ""
"0000417876" "00416594" "1" "00000" "03840" "2022-09-05 15:54:25" "" "" "SEQ" "DNA" "" ""
"0000417877" "00416595" "1" "00000" "03840" "2022-09-05 18:40:22" "" "" "arraySNP;SEQ" "DNA" "" "RHO, RP1, RDS and IMPDH1 genes as a cause of adRP in this family were excluded"
"0000417878" "00416596" "1" "00000" "03840" "2022-09-05 18:40:22" "" "" "arraySNP;SEQ" "DNA" "" "RHO, RP1, RDS and IMPDH1 genes as a cause of adRP in this family were excluded"
"0000417879" "00416597" "1" "00000" "03840" "2022-09-05 18:40:22" "" "" "arraySNP;SEQ" "DNA" "" "RHO, RP1, RDS and IMPDH1 genes as a cause of adRP in this family were excluded"
"0000417880" "00416598" "1" "00000" "03840" "2022-09-05 18:40:22" "" "" "arraySNP;SEQ" "DNA" "" "RHO, RP1, RDS and IMPDH1 genes as a cause of adRP in this family were excluded"
"0000417881" "00416599" "1" "00000" "03840" "2022-09-05 18:40:22" "" "" "arraySNP;SEQ" "DNA" "" "RHO, RP1, RDS and IMPDH1 genes as a cause of adRP in this family were excluded"
"0000417882" "00416600" "1" "00000" "03840" "2022-09-05 18:40:22" "" "" "arraySNP;SEQ" "DNA" "" "RHO, RP1, RDS and IMPDH1 genes as a cause of adRP in this family were excluded"
"0000417883" "00416601" "1" "00000" "03840" "2022-09-05 18:40:22" "" "" "arraySNP;SEQ" "DNA" "" "RHO, RP1, RDS and IMPDH1 genes as a cause of adRP in this family were excluded"
"0000417884" "00416602" "1" "00000" "03840" "2022-09-05 18:40:22" "" "" "arraySNP;SEQ" "DNA" "" "RHO, RP1, RDS and IMPDH1 genes as a cause of adRP in this family were excluded"
"0000417885" "00416603" "1" "00000" "03840" "2022-09-05 18:40:22" "" "" "arraySNP;SEQ" "DNA" "" "RHO, RP1, RDS and IMPDH1 genes as a cause of adRP in this family were excluded"
"0000417886" "00416604" "1" "00000" "03840" "2022-09-05 18:40:22" "" "" "arraySNP;SEQ" "DNA" "" "RHO, RP1, RDS and IMPDH1 genes as a cause of adRP in this family were excluded"
"0000417887" "00416605" "1" "00000" "03840" "2022-09-05 18:55:07" "" "" "SSCA;SEQ" "DNA" "" ""
"0000417888" "00416606" "1" "00000" "03840" "2022-09-05 18:55:07" "" "" "SSCA;SEQ" "DNA" "" ""
"0000417889" "00416607" "1" "00000" "03840" "2022-09-05 18:55:07" "" "" "SSCA;SEQ" "DNA" "" ""
"0000417891" "00416609" "1" "00000" "03840" "2022-09-06 11:10:43" "" "" "SEQ-NG-S;SEQ" "DNA" "" "targeted resequencing of 105 genes associated with retinal dystrophy"
"0000417892" "00416610" "1" "00000" "03840" "2022-09-06 11:10:43" "" "" "SEQ-NG-S;SEQ" "DNA" "" "targeted resequencing of 105 genes associated with retinal dystrophy"
"0000417893" "00416611" "1" "00000" "03840" "2022-09-06 11:10:43" "" "" "SEQ-NG-S;SEQ" "DNA" "" "targeted resequencing of 105 genes associated with retinal dystrophy"
"0000430918" "00429505" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000431423" "00430010" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000431461" "00430048" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000431463" "00430050" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000431551" "00430138" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000431555" "00430142" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing"
"0000448531" "00446954" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448584" "00447007" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449177" "00447600" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449193" "00447616" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 149
"{{screeningid}}" "{{geneid}}"
"0000033156" "TOPORS"
"0000033159" "CC2D2A"
"0000033159" "CRB1"
"0000033159" "RP2"
"0000033159" "SEMA4A"
"0000033159" "TOPORS"
"0000033160" "CRB1"
"0000033160" "TOPORS"
"0000033161" "ABCA4"
"0000033161" "CRB1"
"0000033161" "SEMA4A"
"0000033161" "TOPORS"
"0000033175" "CACNA1F"
"0000033175" "TOPORS"
"0000033179" "TOPORS"
"0000033194" "CA4"
"0000033194" "PDE6B"
"0000033194" "TOPORS"
"0000033197" "RPE65"
"0000033197" "TOPORS"
"0000033209" "GUCY2D"
"0000033209" "PROM1"
"0000033209" "RPGR"
"0000033209" "TOPORS"
"0000174776" "MERTK"
"0000174782" "MERTK"
"0000234216" "TOPORS"
"0000234217" "TOPORS"
"0000234218" "TOPORS"
"0000234219" "TOPORS"
"0000234220" "TOPORS"
"0000234221" "TOPORS"
"0000234222" "TOPORS"
"0000234223" "TOPORS"
"0000234224" "TOPORS"
"0000234225" "TOPORS"
"0000234226" "TOPORS"
"0000234227" "TOPORS"
"0000234228" "TOPORS"
"0000234229" "TOPORS"
"0000234864" "TOPORS"
"0000309714" "TOPORS"
"0000310576" "TOPORS"
"0000310577" "TOPORS"
"0000326725" "TOPORS"
"0000329307" "TOPORS"
"0000329525" "TOPORS"
"0000334612" "TOPORS"
"0000335800" "TOPORS"
"0000335800" "USH2A"
"0000336400" "TOPORS"
"0000336540" "TOPORS"
"0000336667" "TOPORS"
"0000336679" "TOPORS"
"0000336818" "TOPORS"
"0000364621" "TOPORS"
"0000364624" "CEP290"
"0000364650" "TOPORS"
"0000364651" "TOPORS"
"0000364652" "TOPORS"
"0000373313" "TOPORS"
"0000373730" "CRB1"
"0000373730" "TOPORS"
"0000374723" "TOPORS"
"0000375101" "TOPORS"
"0000376488" "TOPORS"
"0000378373" "TOPORS"
"0000378374" "TOPORS"
"0000378689" "TOPORS"
"0000378690" "TOPORS"
"0000378691" "TOPORS"
"0000380765" "TOPORS"
"0000382238" "TOPORS"
"0000382260" "TOPORS"
"0000382270" "TOPORS"
"0000382869" "TOPORS"
"0000382871" "TOPORS"
"0000382995" "TOPORS"
"0000382996" "TOPORS"
"0000383005" "TOPORS"
"0000383127" "TOPORS"
"0000383128" "TOPORS"
"0000383654" "TOPORS"
"0000383819" "TOPORS"
"0000385729" "TOPORS"
"0000387422" "PRPF3"
"0000390913" "TOPORS"
"0000390914" "TOPORS"
"0000390915" "TOPORS"
"0000391095" "TOPORS"
"0000391237" "TOPORS"
"0000391247" "TOPORS"
"0000391645" "TOPORS"
"0000391646" "TOPORS"
"0000393568" "TOPORS"
"0000393595" "TOPORS"
"0000393631" "TOPORS"
"0000393838" "TOPORS"
"0000395789" "TOPORS"
"0000397839" "EYS"
"0000417850" "TOPORS"
"0000417851" "TOPORS"
"0000417852" "TOPORS"
"0000417853" "TOPORS"
"0000417854" "TOPORS"
"0000417855" "TOPORS"
"0000417856" "TOPORS"
"0000417857" "TOPORS"
"0000417858" "TOPORS"
"0000417859" "TOPORS"
"0000417860" "TOPORS"
"0000417861" "TOPORS"
"0000417862" "TOPORS"
"0000417863" "TOPORS"
"0000417864" "TOPORS"
"0000417865" "TOPORS"
"0000417866" "TOPORS"
"0000417867" "TOPORS"
"0000417868" "TOPORS"
"0000417869" "TOPORS"
"0000417870" "TOPORS"
"0000417871" "TOPORS"
"0000417872" "TOPORS"
"0000417873" "TOPORS"
"0000417874" "TOPORS"
"0000417875" "TOPORS"
"0000417876" "TOPORS"
"0000417877" "TOPORS"
"0000417878" "TOPORS"
"0000417879" "TOPORS"
"0000417880" "TOPORS"
"0000417881" "TOPORS"
"0000417882" "TOPORS"
"0000417883" "TOPORS"
"0000417884" "TOPORS"
"0000417885" "TOPORS"
"0000417886" "TOPORS"
"0000417887" "TOPORS"
"0000417888" "TOPORS"
"0000417889" "TOPORS"
"0000417891" "TOPORS"
"0000417892" "TOPORS"
"0000417893" "TOPORS"
"0000430918" "TOPORS"
"0000431423" "TOPORS"
"0000431461" "TOPORS"
"0000431463" "TOPORS"
"0000431551" "TOPORS"
"0000431555" "TOPORS"
## 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 = 200
"{{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}}"
"0000060534" "1" "30" "9" "32542793" "32542793" "subst" "0.00151262" "00229" "TOPORS_000001" "g.32542793G>T" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted to affect function, present at significant fraction in Exome Variant Server" "Germline" "" "" "0" "" "" "g.32542795G>T" "" "likely benign" ""
"0000060535" "1" "90" "9" "32542793" "32542793" "subst" "0.00151262" "00229" "TOPORS_000001" "g.32542793G>T" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted to affect function, present at significant fraction in Exome Variant Server" "Germline" "yes" "" "0" "" "" "g.32542795G>T" "" "pathogenic" ""
"0000060536" "1" "10" "9" "32550912" "32550912" "subst" "0.0206085" "00229" "TOPORS_000002" "g.32550912G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "not segregating with disease in other families" "Germline" "no" "" "0" "" "" "g.32550914G>A" "" "benign" ""
"0000060537" "1" "10" "9" "32550912" "32550912" "subst" "0.0206085" "00229" "TOPORS_000002" "g.32550912G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "not segregating with disease in other families" "Germline" "no" "" "0" "" "" "g.32550914G>A" "" "benign" ""
"0000060538" "1" "10" "9" "32550912" "32550912" "subst" "0.0206085" "00229" "TOPORS_000002" "g.32550912G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign; not segregating with disease in other families" "Germline" "no" "" "0" "" "" "g.32550914G>A" "" "benign" ""
"0000060539" "1" "10" "9" "32550912" "32550912" "subst" "0.0206085" "00229" "TOPORS_000002" "g.32550912G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign; not segregating with disease in other families" "Germline" "no" "" "0" "" "" "g.32550914G>A" "" "benign" ""
"0000060540" "1" "10" "9" "32550912" "32550912" "subst" "0.0206085" "00229" "TOPORS_000002" "g.32550912G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign; not segregating with disease in other families" "Germline" "yes" "" "0" "" "" "g.32550914G>A" "" "benign" ""
"0000060541" "1" "10" "9" "32550912" "32550912" "subst" "0.0206085" "00229" "TOPORS_000002" "g.32550912G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign; not segregating with disease in other family" "Germline" "no" "" "0" "" "" "g.32550914G>A" "" "benign" ""
"0000060542" "1" "10" "9" "32550912" "32550912" "subst" "0.0206085" "00229" "TOPORS_000002" "g.32550912G>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign; not segregating with disease in other families" "Germline" "no" "" "0" "" "" "g.32550914G>A" "" "benign" ""
"0000246864" "0" "50" "9" "32542003" "32542003" "subst" "4.06402E-6" "02330" "TOPORS_000004" "g.32542003A>C" "" "" "" "TOPORS(NM_005802.5):c.2520T>G (p.S840R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32542005A>C" "" "VUS" ""
"0000248619" "0" "10" "9" "32541532" "32541532" "subst" "0.181682" "02325" "TOPORS_000003" "g.32541532A>G" "" "" "" "TOPORS(NM_005802.5):c.2991T>C (p.D997=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32541534A>G" "" "benign" ""
"0000309373" "0" "50" "9" "32543309" "32543309" "subst" "1.62754E-5" "02330" "TOPORS_000010" "g.32543309T>C" "" "" "" "TOPORS(NM_005802.5):c.1214A>G (p.D405G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32543311T>C" "" "VUS" ""
"0000309374" "0" "10" "9" "32542963" "32542963" "subst" "0.00186035" "02330" "TOPORS_000008" "g.32542963T>C" "" "" "" "TOPORS(NM_005802.4):c.1560A>G (p.Q520=), TOPORS(NM_005802.5):c.1560A>G (p.Q520=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32542965T>C" "" "benign" ""
"0000309375" "0" "30" "9" "32542363" "32542363" "subst" "0.00600299" "02330" "TOPORS_000007" "g.32542363G>A" "" "" "" "TOPORS(NM_005802.4):c.2160C>T (p.Y720=), TOPORS(NM_005802.5):c.2160C>T (p.Y720=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32542365G>A" "" "likely benign" ""
"0000309376" "0" "90" "9" "32542007" "32542008" "del" "0" "02330" "TOPORS_000005" "g.32542007_32542008del" "" "" "" "TOPORS(NM_005802.5):c.2518_2519delAG (p.S840*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32542009_32542010del" "" "pathogenic" ""
"0000316923" "0" "50" "9" "32543285" "32543285" "subst" "0.00155751" "01943" "TOPORS_000009" "g.32543285T>G" "" "" "" "TOPORS(NM_005802.4):c.1238A>C (p.Q413P), TOPORS(NM_005802.5):c.1238A>C (p.Q413P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32543287T>G" "" "VUS" ""
"0000316924" "0" "30" "9" "32542963" "32542963" "subst" "0.00186035" "01943" "TOPORS_000008" "g.32542963T>C" "" "" "" "TOPORS(NM_005802.4):c.1560A>G (p.Q520=), TOPORS(NM_005802.5):c.1560A>G (p.Q520=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32542965T>C" "" "likely benign" ""
"0000316925" "0" "30" "9" "32542363" "32542363" "subst" "0.00600299" "01943" "TOPORS_000007" "g.32542363G>A" "" "" "" "TOPORS(NM_005802.4):c.2160C>T (p.Y720=), TOPORS(NM_005802.5):c.2160C>T (p.Y720=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32542365G>A" "" "likely benign" ""
"0000316926" "0" "30" "9" "32542209" "32542209" "subst" "0.000483555" "01943" "TOPORS_000006" "g.32542209G>A" "" "" "" "TOPORS(NM_005802.4):c.2314C>T (p.L772=), TOPORS(NM_005802.5):c.2314C>T (p.L772=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32542211G>A" "" "likely benign" ""
"0000344198" "0" "90" "9" "32541974" "32541977" "del" "0" "02327" "TOPORS_000011" "g.32541974_32541977del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32541976_32541979del" "" "pathogenic" ""
"0000476924" "0" "50" "9" "32541434" "32541434" "subst" "1.62496E-5" "02591" "TOPORS_000012" "g.32541434C>T" "1/1200 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs537145680" "0" "" "" "g.32541436C>T" "" "VUS" ""
"0000476925" "0" "50" "9" "32541740" "32541740" "subst" "8.12315E-6" "02591" "TOPORS_000013" "g.32541740T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.32541742T>C" "" "VUS" ""
"0000476926" "0" "50" "9" "32541848" "32541848" "subst" "0" "02591" "TOPORS_000014" "g.32541848T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.32541850T>C" "" "VUS" ""
"0000476927" "0" "90" "9" "32541984" "32541984" "subst" "0" "02591" "TOPORS_000015" "g.32541984G>A" "1/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs869312183" "0" "" "" "g.32541986G>A" "" "pathogenic" ""
"0000476928" "0" "50" "9" "32542025" "32542025" "subst" "0" "02591" "TOPORS_000016" "g.32542025T>A" "1/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.32542027T>A" "" "VUS" ""
"0000476929" "0" "50" "9" "32542039" "32542041" "del" "0" "02591" "TOPORS_000017" "g.32542039_32542041del" "6/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs750237658" "0" "" "" "g.32542041_32542043del" "" "VUS" ""
"0000476930" "0" "90" "9" "32542070" "32542071" "ins" "0" "02591" "TOPORS_000018" "g.32542070_32542071insT" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.32542072_32542073insT" "" "pathogenic" ""
"0000476931" "0" "50" "9" "32542083" "32542083" "subst" "3.65848E-5" "02591" "TOPORS_000019" "g.32542083G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs539334628" "0" "" "" "g.32542085G>A" "" "VUS" ""
"0000476932" "0" "90" "9" "32542101" "32542101" "subst" "0" "02591" "TOPORS_000020" "g.32542101C>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.32542103C>A" "" "pathogenic" ""
"0000476933" "0" "50" "9" "32542154" "32542154" "subst" "2.0331E-5" "02591" "TOPORS_000021" "g.32542154T>C" "4/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs752030562" "0" "" "" "g.32542156T>C" "" "VUS" ""
"0000476934" "0" "50" "9" "32542674" "32542674" "subst" "4.06798E-6" "02591" "TOPORS_000022" "g.32542674T>G" "7/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs191872498" "0" "" "" "g.32542676T>G" "" "VUS" ""
"0000476935" "0" "50" "9" "32542678" "32542678" "subst" "0" "02591" "TOPORS_000023" "g.32542678A>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.32542680A>C" "" "VUS" ""
"0000476936" "0" "50" "9" "32543562" "32543562" "subst" "0" "02591" "TOPORS_000024" "g.32543562T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.32543564T>C" "" "VUS" ""
"0000476937" "0" "50" "9" "32550806" "32550806" "subst" "0" "02591" "TOPORS_000025" "g.32550806C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.32550808C>T" "" "VUS" ""
"0000477572" "3" "50" "9" "32542674" "32542674" "subst" "4.06798E-6" "02591" "TOPORS_000022" "g.32542674T>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs191872498" "0" "" "" "g.32542676T>G" "" "VUS" ""
"0000537925" "0" "30" "9" "32541376" "32541376" "subst" "0.00140621" "02330" "TOPORS_000026" "g.32541376T>C" "" "" "" "TOPORS(NM_005802.5):c.*9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32541378T>C" "" "likely benign" ""
"0000537926" "0" "50" "9" "32541468" "32541468" "subst" "0.000178721" "02330" "TOPORS_000027" "g.32541468G>C" "" "" "" "TOPORS(NM_005802.5):c.3055C>G (p.Q1019E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32541470G>C" "" "VUS" ""
"0000537927" "0" "50" "9" "32541476" "32541476" "subst" "4.06164E-6" "02330" "TOPORS_000028" "g.32541476A>G" "" "" "" "TOPORS(NM_005802.4):c.3047T>C (p.V1016A), TOPORS(NM_005802.5):c.3047T>C (p.V1016A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32541478A>G" "" "VUS" ""
"0000537928" "0" "50" "9" "32541476" "32541476" "subst" "4.06164E-6" "01943" "TOPORS_000028" "g.32541476A>G" "" "" "" "TOPORS(NM_005802.4):c.3047T>C (p.V1016A), TOPORS(NM_005802.5):c.3047T>C (p.V1016A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32541478A>G" "" "VUS" ""
"0000537929" "0" "10" "9" "32541535" "32541535" "subst" "0.0024694" "02330" "TOPORS_000029" "g.32541535G>A" "" "" "" "TOPORS(NM_005802.5):c.2988C>T (p.L996=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32541537G>A" "" "benign" ""
"0000537930" "0" "10" "9" "32541880" "32541880" "subst" "0.00286609" "02330" "TOPORS_000030" "g.32541880G>C" "" "" "" "TOPORS(NM_005802.4):c.2643C>G (p.H881Q), TOPORS(NM_005802.5):c.2643C>G (p.H881Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32541882G>C" "" "benign" ""
"0000537931" "0" "30" "9" "32541880" "32541880" "subst" "0.00286609" "01943" "TOPORS_000030" "g.32541880G>C" "" "" "" "TOPORS(NM_005802.4):c.2643C>G (p.H881Q), TOPORS(NM_005802.5):c.2643C>G (p.H881Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32541882G>C" "" "likely benign" ""
"0000537932" "0" "90" "9" "32541984" "32541984" "subst" "0" "02327" "TOPORS_000015" "g.32541984G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32541986G>A" "" "pathogenic" ""
"0000537933" "0" "10" "9" "32541998" "32541998" "subst" "0.00096722" "02330" "TOPORS_000031" "g.32541998G>T" "" "" "" "TOPORS(NM_005802.5):c.2525C>A (p.T842N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32542000G>T" "" "benign" ""
"0000537934" "0" "30" "9" "32542056" "32542056" "subst" "0.000288517" "01943" "TOPORS_000032" "g.32542056T>C" "" "" "" "TOPORS(NM_005802.4):c.2467A>G (p.S823G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32542058T>C" "" "likely benign" ""
"0000537935" "0" "30" "9" "32542209" "32542209" "subst" "0.000483555" "02330" "TOPORS_000006" "g.32542209G>A" "" "" "" "TOPORS(NM_005802.4):c.2314C>T (p.L772=), TOPORS(NM_005802.5):c.2314C>T (p.L772=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32542211G>A" "" "likely benign" ""
"0000537936" "0" "10" "9" "32542801" "32542801" "subst" "0.00176555" "01943" "TOPORS_000033" "g.32542801C>T" "" "" "" "TOPORS(NM_005802.4):c.1722G>A (p.L574=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32542803C>T" "" "benign" ""
"0000537937" "0" "30" "9" "32542803" "32542803" "subst" "0.000154954" "02330" "TOPORS_000034" "g.32542803G>C" "" "" "" "TOPORS(NM_005802.5):c.1720C>G (p.L574V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32542805G>C" "" "likely benign" ""
"0000537938" "0" "30" "9" "32543134" "32543134" "subst" "0.00047138" "01943" "TOPORS_000035" "g.32543134G>A" "" "" "" "TOPORS(NM_005802.4):c.1389C>T (p.T463=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32543136G>A" "" "likely benign" ""
"0000537939" "0" "50" "9" "32543444" "32543444" "subst" "4.0811E-5" "02330" "TOPORS_000036" "g.32543444C>T" "" "" "" "TOPORS(NM_005802.5):c.1079G>A (p.R360Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32543446C>T" "" "VUS" ""
"0000537940" "0" "30" "9" "32543709" "32543709" "subst" "0.000653024" "01943" "TOPORS_000037" "g.32543709T>C" "" "" "" "TOPORS(NM_005802.4):c.814A>G (p.I272V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32543711T>C" "" "likely benign" ""
"0000537941" "0" "50" "9" "32543852" "32543852" "subst" "8.53124E-5" "02330" "TOPORS_000038" "g.32543852T>C" "" "" "" "TOPORS(NM_005802.5):c.671A>G (p.D224G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32543854T>C" "" "VUS" ""
"0000537942" "0" "30" "9" "32543980" "32543980" "subst" "6.90518E-5" "02330" "TOPORS_000039" "g.32543980A>G" "" "" "" "TOPORS(NM_005802.5):c.543T>C (p.R181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32543982A>G" "" "likely benign" ""
"0000537943" "0" "50" "9" "32544020" "32544020" "subst" "0" "01943" "TOPORS_000040" "g.32544020T>C" "" "" "" "TOPORS(NM_005802.4):c.503A>G (p.N168S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32544022T>C" "" "VUS" ""
"0000537944" "0" "30" "9" "32544333" "32544333" "subst" "0" "02330" "TOPORS_000041" "g.32544333G>A" "" "" "" "TOPORS(NM_005802.5):c.199-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32544335G>A" "" "likely benign" ""
"0000537945" "0" "30" "9" "32550811" "32550811" "subst" "4.21994E-6" "01943" "NDUFB6_000001" "g.32550811C>G" "" "" "" "TOPORS(NM_005802.4):c.159G>C (p.A53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32550813C>G" "" "likely benign" ""
"0000537946" "0" "10" "9" "32550817" "32550817" "subst" "4.20929E-6" "02330" "NDUFB6_000002" "g.32550817C>T" "" "" "" "TOPORS(NM_005802.5):c.153G>A (p.E51=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32550819C>T" "" "benign" ""
"0000612074" "0" "70" "9" "32543606" "32543618" "del" "0" "02327" "TOPORS_000043" "g.32543606_32543618del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32543608_32543620del" "" "likely pathogenic" ""
"0000612075" "0" "30" "9" "32544034" "32544034" "subst" "0" "02330" "TOPORS_000044" "g.32544034T>C" "" "" "" "TOPORS(NM_005802.5):c.489A>G (p.L163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32544036T>C" "" "likely benign" ""
"0000622253" "0" "50" "9" "32542203" "32542203" "subst" "0" "02330" "TOPORS_000042" "g.32542203T>C" "" "" "" "TOPORS(NM_005802.5):c.2320A>G (p.S774G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32542205T>C" "" "VUS" ""
"0000652699" "1" "50" "9" "32541880" "32541880" "subst" "0.00286609" "03575" "TOPORS_000030" "g.32541880G>C" "8/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 8 heterozygous, no homozygous; {DB:CLININrs41302222}" "Germline" "" "rs41302222" "0" "" "" "g.32541882G>C" "" "VUS" ""
"0000652700" "1" "30" "9" "32542278" "32542278" "subst" "0.0160981" "03575" "TOPORS_000045" "g.32542278T>C" "26/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "26 heterozygous, no homozygous; {DB:CLININrs17857515}" "Germline" "" "rs17857515" "0" "" "" "g.32542280T>C" "" "likely benign" ""
"0000652701" "1" "30" "9" "32550912" "32550912" "subst" "0.0206085" "03575" "TOPORS_000002" "g.32550912G>A" "30/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "30 heterozygous, no homozygous; {DB:CLININrs112527210}" "Germline" "" "rs112527210" "0" "" "" "g.32550914G>A" "" "likely benign" ""
"0000678658" "0" "30" "9" "32542089" "32542089" "subst" "2.43928E-5" "01943" "TOPORS_000046" "g.32542089G>A" "" "" "" "TOPORS(NM_005802.4):c.2434C>T (p.P812S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000684587" "1" "70" "9" "32543318" "32543318" "subst" "0" "00004" "TOPORS_000049" "g.32543318T>G" "1/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000685487" "0" "90" "9" "32541966" "32541969" "del" "0" "00004" "TOPORS_000047" "g.32541966_32541969del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000685488" "0" "90" "9" "32541999" "32541999" "dup" "0" "00004" "TOPORS_000048" "g.32541999dup" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.2524dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000690518" "0" "90" "9" "32541971" "32541972" "del" "0" "02330" "TOPORS_000050" "g.32541971_32541972del" "" "" "" "TOPORS(NM_005802.5):c.2556_2557delGA (p.E852Dfs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000690519" "0" "30" "9" "32542793" "32542793" "subst" "0.00151262" "01943" "TOPORS_000001" "g.32542793G>T" "" "" "" "TOPORS(NM_005802.4):c.1730C>A (p.S577Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000690520" "0" "50" "9" "32544171" "32544171" "subst" "0.000199391" "02330" "TOPORS_000051" "g.32544171G>A" "" "" "" "TOPORS(NM_005802.5):c.352C>T (p.R118C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000710317" "1" "90" "9" "32541969" "32541972" "del" "0" "00006" "TOPORS_000047" "g.32541969_32541972del" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "2554_2557delGAGA" "" "Germline" "" "" "0" "" "" "g.32541971_32541974del" "" "pathogenic" ""
"0000713430" "0" "90" "9" "32541954" "32541954" "del" "0" "00000" "TOPORS_000052" "g.32541954del" "" "{PMID:Carss 2017:28041643}" "" "9:32541953CT>C ENST00000360538.2:c.2569delA (Arg857GlyfsTer9)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000713648" "0" "90" "9" "32541966" "32541967" "del" "0" "00000" "TOPORS_000050" "g.32541966_32541967del" "" "{PMID:Carss 2017:28041643}" "" "9:32541965GTC>G ENST00000360538.2:c.2556_2557delGA (Glu852AspfsTer20)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000722487" "0" "30" "9" "32542830" "32542830" "subst" "1.22316E-5" "01943" "TOPORS_000053" "g.32542830A>G" "" "" "" "TOPORS(NM_005802.4):c.1693T>C (p.S565P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000732544" "1" "90" "9" "32542049" "32542049" "dup" "0" "00000" "TOPORS_000054" "g.32542049dup" "" "{PMID:Wang 2017:28838317}" "" "2474dupA" "" "Germline" "" "" "0" "" "" "g.32542051dup" "" "pathogenic (dominant)" ""
"0000734712" "0" "50" "9" "32542039" "32542041" "del" "0" "00000" "TOPORS_000017" "g.32542039_32542041del" "" "{PMID:Vincent 2017:28488341}" "" "2484_2486delTTC" "" "Germline" "" "" "0" "" "" "g.32542041_32542043del" "" "VUS" ""
"0000735675" "0" "90" "9" "32541974" "32541977" "del" "0" "00000" "TOPORS_000011" "g.32541974_32541977del" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "yes" "" "0" "" "" "g.32541976_32541979del" "" "pathogenic" ""
"0000735936" "0" "70" "9" "32541999" "32541999" "dup" "0" "02485" "TOPORS_000048" "g.32541999dup" "" "{PMID:Bravo-Gil 2017:28157192}" "" "c.2524dupA" "" "Germline" "" "" "0" "" "" "g.32542001dup" "" "likely pathogenic" ""
"0000736112" "0" "70" "9" "32542476" "32542476" "subst" "0.000353817" "00000" "TOPORS_000056" "g.32542476G>A" "" "{PMID:Huang 2018:29641573}" "" "" "" "Germline" "" "" "0" "" "" "g.32542478G>A" "" "likely pathogenic" ""
"0000736167" "1" "90" "9" "32542016" "32542016" "subst" "0.000219389" "00006" "TOPORS_000055" "g.32542016T>C" "" "{PMID:Todorova 2017:28147405}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000736354" "1" "90" "9" "32541971" "32541972" "del" "0" "00000" "TOPORS_000050" "g.32541971_32541972del" "" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Germline" "" "" "0" "" "" "g.32541973_32541974del" "" "pathogenic (dominant)" "ACMG"
"0000760263" "0" "70" "9" "32541984" "32541984" "subst" "0" "00000" "TOPORS_000015" "g.32541984G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.32541986G>A" "" "likely pathogenic" ""
"0000765486" "1" "70" "9" "32542382" "32542382" "subst" "2.84553E-5" "00000" "TOPORS_000058" "g.32542382T>C" "1/596 chromosomes" "{PMID:Sun 2015:26747767}" "" "1946A>G (D649G)" "not in 624 control chromosomes" "Germline" "" "" "0" "" "" "g.32542384T>C" "" "likely pathogenic" ""
"0000765506" "1" "70" "9" "32550947" "32550947" "subst" "0" "00000" "TOPORS_000059" "g.32550947C>G" "1/596 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 624 control chromosomes" "Germline" "" "" "0" "" "" "g.32550949C>G" "" "likely pathogenic" ""
"0000765525" "1" "90" "9" "32542049" "32542049" "dup" "0" "00000" "TOPORS_000054" "g.32542049dup" "2/60 cases" "{PMID:Coussa 2015:26720483}" "" "2474_2475insA" "not in 192 controls" "Germline" "" "" "0" "" "" "g.32542051dup" "" "pathogenic (dominant)" ""
"0000765526" "1" "90" "9" "32542049" "32542049" "dup" "0" "00000" "TOPORS_000054" "g.32542049dup" "2/60 cases" "{PMID:Coussa 2015:26720483}" "" "2474_2475insA" "not in 192 controls" "Germline" "" "" "0" "" "" "g.32542051dup" "" "pathogenic (dominant)" ""
"0000765527" "1" "70" "9" "32541857" "32541857" "subst" "0" "00000" "TOPORS_000057" "g.32541857T>G" "1/60 cases" "{PMID:Coussa 2015:26720483}" "" "" "not in 192 controls" "Germline" "" "" "0" "" "" "g.32541859T>G" "" "likely pathogenic (dominant)" ""
"0000783285" "0" "70" "9" "32541984" "32541984" "subst" "0" "00000" "TOPORS_000015" "g.32541984G>A" "" "{PMID:Yoon 2015:26155838}" "" "2344C>T" "" "Germline" "" "" "0" "" "" "g.32541986G>A" "" "likely pathogenic (dominant)" ""
"0000783897" "0" "50" "9" "32541579" "32541580" "del" "0" "00000" "TOPORS_000060" "g.32541579_32541580del" "" "{PMID:Wang 2015:26047050}" "" "" "" "Germline" "" "" "0" "" "" "g.32541581_32541582del" "" "VUS" ""
"0000784124" "0" "90" "9" "32541969" "32541972" "del" "0" "00000" "TOPORS_000047" "g.32541969_32541972del" "" "{PMID:Xu 2014:24938718}" "" "c.2554_2557delGAGA" "" "Germline" "" "" "0" "" "" "g.32541971_32541974del" "" "pathogenic (dominant)" ""
"0000784185" "0" "90" "9" "32541974" "32541977" "del" "0" "00000" "TOPORS_000011" "g.32541974_32541977del" "" "{PMID:Xu 2014:24938718}" "" "c.2550_2553delCAGA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.32541976_32541979del" "" "pathogenic (dominant)" ""
"0000784186" "0" "90" "9" "32541971" "32541972" "del" "0" "00000" "TOPORS_000050" "g.32541971_32541972del" "" "{PMID:Xu 2014:24938718}" "" "c.2556_2557delGA" "" "Germline" "" "" "0" "" "" "g.32541973_32541974del" "" "pathogenic (dominant)" ""
"0000784563" "0" "50" "9" "32542986" "32542986" "subst" "0" "00000" "TOPORS_000061" "g.32542986C>G" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.32542988C>G" "" "VUS" ""
"0000785546" "0" "30" "9" "32542793" "32542793" "subst" "0.00151262" "00000" "TOPORS_000001" "g.32542793G>T" "" "{PMID:Fernandez-San Jose 2015:25698705}" "" "" "" "Germline" "" "rs79708790" "0" "" "" "g.32542795G>T" "" "likely benign" ""
"0000786368" "1" "70" "9" "32542666" "32542666" "subst" "4.06924E-6" "00000" "TOPORS_000062" "g.32542666A>T" "" "{PMID:Zhao 2015:25472526}" "" "" "" "Germline" "" "" "0" "" "" "g.32542668A>T" "" "likely pathogenic" ""
"0000787657" "1" "70" "9" "32541914" "32541925" "del" "0" "00000" "TOPORS_000063" "g.32541914_32541925del" "" "{PMID:Huang 2015:25356976}" "" "2598_2609del11bp" "" "Germline" "yes" "" "0" "" "" "g.32541916_32541927del" "" "likely pathogenic" ""
"0000788096" "1" "90" "9" "32541969" "32541972" "del" "0" "00000" "TOPORS_000047" "g.32541969_32541972del" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.32541971_32541974del" "" "pathogenic" ""
"0000790403" "0" "70" "9" "32550896" "32550896" "subst" "0.00831182" "00000" "TOPORS_000064" "g.32550896G>C" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "g.32550898G>C" "" "likely pathogenic" ""
"0000790639" "0" "50" "9" "32541880" "32541880" "subst" "0.00286609" "00000" "TOPORS_000030" "g.32541880G>C" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs41302222" "0" "" "" "g.32541882G>C" "" "VUS" ""
"0000790646" "0" "50" "9" "32543709" "32543709" "subst" "0.000653024" "00000" "TOPORS_000037" "g.32543709T>C" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs115436019" "0" "" "" "g.32543711T>C" "" "VUS" ""
"0000790659" "0" "50" "9" "32543285" "32543285" "subst" "0.00155751" "00000" "TOPORS_000009" "g.32543285T>G" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs61758062" "0" "" "" "g.32543287T>G" "" "VUS" ""
"0000791128" "11" "90" "9" "32542085" "32542086" "del" "0" "00000" "TOPORS_000065" "g.32542085_32542086del" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.32542087_32542088del" "" "pathogenic" "ACMG"
"0000791129" "21" "90" "9" "32542085" "32542086" "del" "0" "00000" "TOPORS_000065" "g.32542085_32542086del" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.32542087_32542088del" "" "pathogenic" "ACMG"
"0000791538" "0" "70" "9" "32542007" "32542008" "del" "0" "00000" "TOPORS_000005" "g.32542007_32542008del" "2/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.32542009_32542010del" "" "likely pathogenic" ""
"0000791539" "0" "70" "9" "32542007" "32542008" "del" "0" "00000" "TOPORS_000005" "g.32542007_32542008del" "2/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.32542009_32542010del" "" "likely pathogenic" ""
"0000791540" "0" "70" "9" "32541999" "32541999" "dup" "0" "00000" "TOPORS_000048" "g.32541999dup" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.32542001dup" "" "likely pathogenic" ""
"0000793957" "0" "70" "9" "32541984" "32541984" "subst" "0" "00000" "TOPORS_000015" "g.32541984G>A" "" "{PMID:O\'Sullivan-2012:22581970}" "" "c.2539C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000795954" "0" "70" "9" "32541953" "32541953" "subst" "0" "00000" "TOPORS_000066" "g.32541953C>A" "0/384 controls" "{PMID:Chen-2013:23462753}" "" "c.2570G>T(p.Arg857Met)" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" ""
"0000795999" "0" "50" "9" "32543852" "32543852" "subst" "8.53124E-5" "00000" "TOPORS_000038" "g.32543852T>C" "" "{PMID:Chen-2013:23661368}" "" "c.671A>G" "" "Unknown" "" "rs147071021" "0" "" "" "" "" "VUS" ""
"0000796014" "0" "50" "9" "32543852" "32543852" "subst" "8.53124E-5" "00000" "TOPORS_000038" "g.32543852T>C" "" "{PMID:Chen-2013:23661368}" "" "c.671A>G" "" "Unknown" "" "rs147071021" "0" "" "" "" "" "VUS" ""
"0000796801" "0" "90" "9" "32541966" "32541969" "del" "0" "00000" "TOPORS_000047" "g.32541966_32541969del" "" "{PMID:Eisenberger-2013:24265693}" "" "c.2554_2557del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796805" "0" "90" "9" "32541970" "32541973" "del" "0" "00000" "TOPORS_000011" "g.32541970_32541973del" "" "{PMID:Eisenberger-2013:24265693}" "" "c.2550_2553del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000796973" "0" "70" "9" "32541966" "32541969" "del" "0" "00000" "TOPORS_000047" "g.32541966_32541969del" "" "{PMID:Sullivan-2013:23950152}" "" "c.2554_2557del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000796974" "0" "70" "9" "32541966" "32541967" "del" "0" "00000" "TOPORS_000050" "g.32541966_32541967del" "" "{PMID:Sullivan-2013:23950152}" "" "c.2556_2557delGA" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000796983" "0" "50" "9" "32542259" "32542259" "subst" "1.21926E-5" "00000" "TOPORS_000067" "g.32542259T>C" "" "{PMID:Sullivan-2013:23950152}" "" "c.2264A>G" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000797119" "0" "90" "9" "32541974" "32541977" "del" "0" "00000" "TOPORS_000011" "g.32541974_32541977del" "" "{PMID:Birtel 2018:30543658}" "" "c.2550_2553delCAGA, p.Asp850Glufs*15" "Heterozygous" "Germline" "?" "" "0" "" "" "g.32541976_32541979del" "" "pathogenic" "ACMG"
"0000797120" "0" "90" "9" "32542008" "32542008" "subst" "0" "00000" "TOPORS_000069" "g.32542008C>A" "" "{PMID:Birtel 2018:30543658}" "" "c.2515G>T, p.Glu839*" "Heterozygous" "Germline" "?" "" "0" "" "" "g.32542010C>A" "" "pathogenic" "ACMG"
"0000797840" "0" "90" "9" "32541969" "32541972" "del" "0" "00000" "TOPORS_000047" "g.32541969_32541972del" "" "{PMID:Jespersgaar 2019:30718709}" "" "TOPORS c.2554_2557del, p.(Glu852Glnfs*13)" "" "Germline" "?" "" "0" "" "" "g.32541971_32541974del" "" "pathogenic" "ACMG"
"0000798087" "0" "50" "9" "32541650" "32541650" "subst" "8.12374E-6" "00000" "TOPORS_000068" "g.32541650T>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "TOPORS c.2873A>T, p.(Glu958Val)" "" "Germline" "?" "" "0" "" "" "g.32541652T>A" "" "VUS" "ACMG"
"0000804092" "0" "30" "9" "32542420" "32542420" "subst" "8.13365E-6" "01943" "TOPORS_000070" "g.32542420T>C" "" "" "" "TOPORS(NM_005802.4):c.2103A>G (p.K701=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000804093" "0" "30" "9" "32543150" "32543150" "subst" "1.62561E-5" "01943" "TOPORS_000071" "g.32543150A>G" "" "" "" "TOPORS(NM_005802.4):c.1373T>C (p.I458T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000804094" "0" "50" "9" "32543301" "32543301" "subst" "0" "01943" "TOPORS_000072" "g.32543301C>T" "" "" "" "TOPORS(NM_005802.4):c.1222G>A (p.V408I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000812843" "0" "90" "9" "32541969" "32541972" "del" "0" "00000" "TOPORS_000047" "g.32541969_32541972del" "" "{PMID:Wang 2019:31106028}" "" "c.2554_2557del, p.(Glu852Glnfs*13)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32541971_32541974del" "" "pathogenic" ""
"0000815434" "0" "50" "9" "32543642" "32543642" "subst" "0" "00000" "TOPORS_000073" "g.32543642T>C" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "TOPORS:NM_005802 c.A881G, p.H294R" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.32543644T>C" "" "VUS" "ACMG"
"0000820258" "1" "70" "9" "32541984" "32541984" "subst" "0" "00000" "TOPORS_000015" "g.32541984G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "TOPORS, variant 1: c.2539C>T/p.R847*" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.32541986G>A" "" "likely pathogenic" ""
"0000820259" "1" "70" "9" "32541984" "32541984" "subst" "0" "00000" "TOPORS_000015" "g.32541984G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "TOPORS, variant 1: c.2539C>T/p.R847*" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.32541986G>A" "" "likely pathogenic" ""
"0000820260" "1" "70" "9" "32541984" "32541984" "subst" "0" "00000" "TOPORS_000015" "g.32541984G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "TOPORS, variant 1: c.2539C>T/p.R847*" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.32541986G>A" "" "likely pathogenic" ""
"0000820440" "1" "70" "9" "32541969" "32541972" "del" "0" "00000" "TOPORS_000047" "g.32541969_32541972del" "" "{PMID:Weisschuh 2020:32531858}" "" "TOPORS, variant 1: c.2554_2557del/p.E852Qfs*13" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.32541971_32541974del" "" "likely pathogenic" ""
"0000820582" "1" "70" "9" "32541434" "32541434" "dup" "0" "00000" "TOPORS_000074" "g.32541434dup" "" "{PMID:Weisschuh 2020:32531858}" "" "TOPORS, variant 1: c.3090dup/p.T1031Dfs*10" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.32541436dup" "" "likely pathogenic" ""
"0000820592" "1" "70" "9" "32541969" "32541972" "del" "0" "00000" "TOPORS_000047" "g.32541969_32541972del" "" "{PMID:Weisschuh 2020:32531858}" "" "TOPORS, variant 1: c.2554_2557del/p.E852Qfs*13" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.32541971_32541974del" "" "likely pathogenic" ""
"0000821395" "0" "90" "9" "32541957" "32541957" "del" "0" "00000" "TOPORS_000052" "g.32541957del" "" "{PMID:Turro 2020:32581362}" "" "TOPORS c.2569delA, p.Arg857GlyfsTer9" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.32541959del" "" "pathogenic" ""
"0000821396" "0" "90" "9" "32541971" "32541972" "del" "0" "00000" "TOPORS_000050" "g.32541971_32541972del" "" "{PMID:Turro 2020:32581362}" "" "TOPORS c.2556_2557delGA, p.Glu852AspfsTer20" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.32541973_32541974del" "" "pathogenic" ""
"0000824345" "0" "90" "9" "32541953" "32541953" "subst" "0" "00000" "TOPORS_000066" "g.32541953C>A" "" "{PMID:Xiao-2021:33598457}" "" "TOPORS c.2570G>T, p.(R857M)" "" "Unknown" "yes" "" "0" "" "" "g.32541955C>A" "" "pathogenic" "ACMG"
"0000824375" "0" "90" "9" "32541971" "32541972" "del" "0" "00000" "TOPORS_000050" "g.32541971_32541972del" "" "{PMID:Xiao-2021:33598457}" "" "TOPORS c.2556_2557delGA, p.(E852Dfs*20)" "incomplete penetrance in the family" "Unknown" "?" "" "0" "" "" "g.32541973_32541974del" "" "pathogenic" "ACMG"
"0000824412" "0" "90" "9" "32542104" "32542104" "dup" "0" "00000" "TOPORS_000076" "g.32542104dup" "" "{PMID:Xiao-2021:33598457}" "" "TOPORS c.2420dupA, p.(N807Kfs*9)" "" "Unknown" "?" "" "0" "" "" "g.32542106dup" "" "pathogenic" "ACMG"
"0000824660" "0" "50" "9" "32542008" "32542009" "del" "0" "00000" "TOPORS_000075" "g.32542008_32542009del" "" "{PMID:Ma 2021:33691693}" "" "TOPORS c.2514_2515del, p.N838fs" "marked as causative, heterozygous" "Unknown" "?" "" "0" "" "" "g.32542010_32542011del" "" "VUS" "ACMG"
"0000827191" "0" "90" "9" "32541984" "32541984" "subst" "0" "00000" "TOPORS_000015" "g.32541984G>A" "" "{PMID:Colombo-2020:33576794}" "" "c.2539C>T" "" "Germline" "" "rs869312183" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000829711" "1" "70" "9" "32541984" "32541984" "subst" "0" "00006" "TOPORS_000015" "g.32541984G>A" "" "{PMID:Ellingford 2016:26872967}" "" "" "" "Germline" "" "" "0" "" "" "g.32541986G>A" "" "likely pathogenic" ""
"0000829984" "0" "50" "9" "32542445" "32542445" "subst" "0" "00000" "TOPORS_000077" "g.32542445C>A" "" "{PMID:Numa-2020:33247286}" "" "c.2078G>T:p.R693I" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000852252" "0" "50" "9" "32542039" "32542041" "del" "0" "01943" "TOPORS_000017" "g.32542039_32542041del" "" "" "" "TOPORS(NM_005802.4):c.2484_2486delTTC (p.S830del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000852253" "0" "30" "9" "32542546" "32542546" "subst" "4.0618E-6" "01943" "TOPORS_000079" "g.32542546A>G" "" "" "" "TOPORS(NM_005802.4):c.1977T>C (p.T659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000861626" "0" "30" "9" "32542016" "32542016" "subst" "0.000219389" "02330" "TOPORS_000055" "g.32542016T>C" "" "" "" "TOPORS(NM_005802.5):c.2507A>G (p.Y836C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000861627" "0" "30" "9" "32542174" "32542174" "subst" "0.000223579" "02330" "TOPORS_000078" "g.32542174C>T" "" "" "" "TOPORS(NM_005802.5):c.2349G>A (p.G783=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000861628" "0" "30" "9" "32543665" "32543665" "subst" "1.63572E-5" "02330" "TOPORS_000080" "g.32543665G>A" "" "" "" "TOPORS(NM_005802.5):c.858C>T (p.F286=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000877582" "20" "70" "9" "32542049" "32542049" "dup" "0" "00000" "TOPORS_000054" "g.32542049dup" "0/200 white controls" "{PMID:Chakarova 2007:17924349}" "" "TOPORS c.2474_2475insA (p.Tyr825fs)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32542051dup" "" "likely pathogenic" ""
"0000877583" "20" "70" "9" "32542049" "32542049" "dup" "0" "00000" "TOPORS_000054" "g.32542049dup" "0/200 white controls" "{PMID:Chakarova 2007:17924349}" "" "TOPORS c.2474_2475insA (p.Tyr825fs)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32542051dup" "" "likely pathogenic" ""
"0000877584" "21" "70" "9" "32542049" "32542049" "dup" "0" "00000" "TOPORS_000054" "g.32542049dup" "0/200 white controls" "{PMID:Chakarova 2007:17924349}" "" "TOPORS c.2474_2475insA (p.Tyr825fs)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32542051dup" "" "likely pathogenic" ""
"0000877585" "21" "70" "9" "32542049" "32542049" "dup" "0" "00000" "TOPORS_000054" "g.32542049dup" "0/200 white controls" "{PMID:Chakarova 2007:17924349}" "" "TOPORS c.2474_2475insA (p.Tyr825fs)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32542051dup" "" "likely pathogenic" ""
"0000877586" "21" "70" "9" "32542049" "32542049" "dup" "0" "00000" "TOPORS_000054" "g.32542049dup" "0/200 white controls" "{PMID:Chakarova 2007:17924349}" "" "TOPORS c.2474_2475insA (p.Tyr825fs)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32542051dup" "" "likely pathogenic" ""
"0000877587" "21" "70" "9" "32542049" "32542049" "dup" "0" "00000" "TOPORS_000054" "g.32542049dup" "0/200 white controls" "{PMID:Chakarova 2007:17924349}" "" "TOPORS c.2474_2475insA (p.Tyr825fs)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32542051dup" "" "likely pathogenic" ""
"0000877588" "21" "70" "9" "32542049" "32542049" "dup" "0" "00000" "TOPORS_000054" "g.32542049dup" "0/200 white controls" "{PMID:Chakarova 2007:17924349}" "" "TOPORS c.2474_2475insA (p.Tyr825fs)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32542051dup" "" "likely pathogenic" ""
"0000877589" "21" "70" "9" "32542049" "32542049" "dup" "0" "00000" "TOPORS_000054" "g.32542049dup" "0/200 white controls" "{PMID:Chakarova 2007:17924349}" "" "TOPORS c.2474_2475insA (p.Tyr825fs)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32542051dup" "" "likely pathogenic" ""
"0000877590" "21" "70" "9" "32542049" "32542049" "dup" "0" "00000" "TOPORS_000054" "g.32542049dup" "0/200 white controls" "{PMID:Chakarova 2007:17924349}" "" "TOPORS c.2474_2475insA (p.Tyr825fs)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32542051dup" "" "likely pathogenic" ""
"0000877591" "21" "70" "9" "32542049" "32542049" "dup" "0" "00000" "TOPORS_000054" "g.32542049dup" "0/200 white controls" "{PMID:Chakarova 2007:17924349}" "" "TOPORS c.2474_2475insA (p.Tyr825fs)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32542051dup" "" "likely pathogenic" ""
"0000877592" "21" "70" "9" "32542049" "32542049" "dup" "0" "00000" "TOPORS_000054" "g.32542049dup" "0/200 white controls" "{PMID:Chakarova 2007:17924349}" "" "TOPORS c.2474_2475insA (p.Tyr825fs)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32542051dup" "" "likely pathogenic" ""
"0000877593" "21" "70" "9" "32542049" "32542049" "dup" "0" "00000" "TOPORS_000054" "g.32542049dup" "0/200 white controls" "{PMID:Chakarova 2007:17924349}" "" "TOPORS c.2474_2475insA (p.Tyr825fs)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32542051dup" "" "likely pathogenic" ""
"0000877594" "21" "70" "9" "32542049" "32542049" "dup" "0" "00000" "TOPORS_000054" "g.32542049dup" "0/200 white controls" "{PMID:Chakarova 2007:17924349}" "" "TOPORS c.2474_2475insA (p.Tyr825fs)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32542051dup" "" "likely pathogenic" ""
"0000877595" "11" "70" "9" "32542049" "32542049" "dup" "0" "00000" "TOPORS_000054" "g.32542049dup" "0/200 white controls" "{PMID:Chakarova 2007:17924349}" "" "TOPORS c.2474_2475insA (p.Tyr825fs)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32542051dup" "" "likely pathogenic" ""
"0000877596" "11" "70" "9" "32542049" "32542049" "dup" "0" "00000" "TOPORS_000054" "g.32542049dup" "0/200 white controls" "{PMID:Chakarova 2007:17924349}" "" "TOPORS c.2474_2475insA (p.Tyr825fs)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32542051dup" "" "likely pathogenic" ""
"0000877597" "21" "70" "9" "32542049" "32542049" "dup" "0" "00000" "TOPORS_000054" "g.32542049dup" "0/200 white controls" "{PMID:Chakarova 2007:17924349}" "" "TOPORS c.2474_2475insA (p.Tyr825fs)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32542051dup" "" "likely pathogenic" ""
"0000877598" "21" "70" "9" "32542049" "32542049" "dup" "0" "00000" "TOPORS_000054" "g.32542049dup" "0/200 white controls" "{PMID:Chakarova 2007:17924349}" "" "TOPORS c.2474_2475insA (p.Tyr825fs)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32542051dup" "" "likely pathogenic" ""
"0000877599" "20" "70" "9" "32541971" "32541972" "del" "0" "00000" "TOPORS_000050" "g.32541971_32541972del" "0/200 white controls" "{PMID:Chakarova 2007:17924349}" "" "TOPORS c.2552_2553delGA (p.Arg851fs)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32541973_32541974del" "" "likely pathogenic" ""
"0000877600" "11" "70" "9" "32541971" "32541972" "del" "0" "00000" "TOPORS_000050" "g.32541971_32541972del" "0/200 white controls" "{PMID:Chakarova 2007:17924349}" "" "TOPORS c.2552_2553delGA (p.Arg851fs)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32541973_32541974del" "" "likely pathogenic" ""
"0000877602" "0" "70" "9" "32541957" "32541957" "del" "0" "00000" "TOPORS_000052" "g.32541957del" "" "{PMID:Bowne 2008:18509552}" "" "TOPORS p.Arg857GlyfsX9 (c.2569delA)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32541959del" "" "likely pathogenic" ""
"0000877603" "21" "70" "9" "32542101" "32542101" "subst" "0" "00000" "TOPORS_000020" "g.32542101C>A" "" "{PMID:Bowne 2008:18509552}" "" "TOPORS p.Glu808X (c.2422C>T)" "error in annotation: should be c.2422G>T and not c.2422C>T; heterozygous" "Germline" "yes" "" "0" "" "" "g.32542103C>A" "" "likely pathogenic" ""
"0000877604" "10" "70" "9" "32542101" "32542101" "subst" "0" "00000" "TOPORS_000020" "g.32542101C>A" "" "{PMID:Bowne 2008:18509552}" "" "TOPORS p.Glu808X (c.2422C>T)" "error in annotation: should be c.2422G>T and not c.2422C>T; heterozygous" "Germline" "yes" "" "0" "" "" "g.32542103C>A" "" "likely pathogenic" ""
"0000877605" "10" "70" "9" "32542101" "32542101" "subst" "0" "00000" "TOPORS_000020" "g.32542101C>A" "" "{PMID:Bowne 2008:18509552}" "" "TOPORS p.Glu808X (c.2422C>T)" "error in annotation: should be c.2422G>T and not c.2422C>T; heterozygous" "Germline" "yes" "" "0" "" "" "g.32542103C>A" "" "likely pathogenic" ""
"0000877606" "21" "70" "9" "32542101" "32542101" "subst" "0" "00000" "TOPORS_000020" "g.32542101C>A" "" "{PMID:Bowne 2008:18509552}" "" "TOPORS p.Glu808X (c.2422C>T)" "error in annotation: should be c.2422G>T and not c.2422C>T; heterozygous" "Germline" "yes" "" "0" "" "" "g.32542103C>A" "" "likely pathogenic" ""
"0000877607" "21" "70" "9" "32542101" "32542101" "subst" "0" "00000" "TOPORS_000020" "g.32542101C>A" "" "{PMID:Bowne 2008:18509552}" "" "TOPORS p.Glu808X (c.2422C>T)" "error in annotation: should be c.2422G>T and not c.2422C>T; heterozygous" "Germline" "yes" "" "0" "" "" "g.32542103C>A" "" "likely pathogenic" ""
"0000877608" "21" "70" "9" "32542101" "32542101" "subst" "0" "00000" "TOPORS_000020" "g.32542101C>A" "" "{PMID:Bowne 2008:18509552}" "" "TOPORS p.Glu808X (c.2422C>T)" "error in annotation: should be c.2422G>T and not c.2422C>T; heterozygous" "Germline" "yes" "" "0" "" "" "g.32542103C>A" "" "likely pathogenic" ""
"0000877609" "21" "70" "9" "32542101" "32542101" "subst" "0" "00000" "TOPORS_000020" "g.32542101C>A" "" "{PMID:Bowne 2008:18509552}" "" "TOPORS p.Glu808X (c.2422C>T)" "error in annotation: should be c.2422G>T and not c.2422C>T; heterozygous" "Germline" "yes" "" "0" "" "" "g.32542103C>A" "" "likely pathogenic" ""
"0000877610" "20" "70" "9" "32543318" "32543318" "subst" "0" "00000" "TOPORS_000049" "g.32543318T>G" "0/207 healthy control subjects of Norwegian origin" "{PMID:Selmer 2010:19183411}" "" "TOPORS c.1205a>c, p.Q402P" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32543320T>G" "" "likely pathogenic" ""
"0000877611" "10" "70" "9" "32543318" "32543318" "subst" "0" "00000" "TOPORS_000049" "g.32543318T>G" "0/207 healthy control subjects of Norwegian origin" "{PMID:Selmer 2010:19183411}" "" "TOPORS c.1205a>c, p.Q402P" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32543320T>G" "" "likely pathogenic" ""
"0000877612" "10" "70" "9" "32543318" "32543318" "subst" "0" "00000" "TOPORS_000049" "g.32543318T>G" "0/207 healthy control subjects of Norwegian origin" "{PMID:Selmer 2010:19183411}" "" "TOPORS c.1205a>c, p.Q402P" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32543320T>G" "" "likely pathogenic" ""
"0000877613" "10" "70" "9" "32543318" "32543318" "subst" "0" "00000" "TOPORS_000049" "g.32543318T>G" "0/207 healthy control subjects of Norwegian origin" "{PMID:Selmer 2010:19183411}" "" "TOPORS c.1205a>c, p.Q402P" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32543320T>G" "" "likely pathogenic" ""
"0000877614" "10" "70" "9" "32543318" "32543318" "subst" "0" "00000" "TOPORS_000049" "g.32543318T>G" "0/207 healthy control subjects of Norwegian origin" "{PMID:Selmer 2010:19183411}" "" "TOPORS c.1205a>c, p.Q402P" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32543320T>G" "" "likely pathogenic" ""
"0000877615" "10" "70" "9" "32543318" "32543318" "subst" "0" "00000" "TOPORS_000049" "g.32543318T>G" "0/207 healthy control subjects of Norwegian origin" "{PMID:Selmer 2010:19183411}" "" "TOPORS c.1205a>c, p.Q402P" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32543320T>G" "" "likely pathogenic" ""
"0000877616" "20" "70" "9" "32543318" "32543318" "subst" "0" "00000" "TOPORS_000049" "g.32543318T>G" "0/207 healthy control subjects of Norwegian origin" "{PMID:Selmer 2010:19183411}" "" "TOPORS c.1205a>c, p.Q402P" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32543320T>G" "" "likely pathogenic" ""
"0000877617" "21" "70" "9" "32543318" "32543318" "subst" "0" "00000" "TOPORS_000049" "g.32543318T>G" "0/207 healthy control subjects of Norwegian origin" "{PMID:Selmer 2010:19183411}" "" "TOPORS c.1205a>c, p.Q402P" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32543320T>G" "" "likely pathogenic" ""
"0000877618" "21" "70" "9" "32543318" "32543318" "subst" "0" "00000" "TOPORS_000049" "g.32543318T>G" "0/207 healthy control subjects of Norwegian origin" "{PMID:Selmer 2010:19183411}" "" "TOPORS c.1205a>c, p.Q402P" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32543320T>G" "" "likely pathogenic" ""
"0000877619" "21" "70" "9" "32543318" "32543318" "subst" "0" "00000" "TOPORS_000049" "g.32543318T>G" "0/207 healthy control subjects of Norwegian origin" "{PMID:Selmer 2010:19183411}" "" "TOPORS c.1205a>c, p.Q402P" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32543320T>G" "" "likely pathogenic" ""
"0000877620" "0" "70" "9" "32543318" "32543318" "subst" "0" "00000" "TOPORS_000049" "g.32543318T>G" "" "{PMID:Schob 2009:19373681}" "" "TOPORS c.1205A>C/p.Q402P" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32543320T>G" "" "likely pathogenic" ""
"0000877621" "0" "70" "9" "32542705" "32542705" "subst" "4.06775E-6" "00000" "TOPORS_000081" "g.32542705A>C" "" "{PMID:Schob 2009:19373681}" "" "TOPORS c.1818T>G/p.S606R" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32542707A>C" "" "likely pathogenic" ""
"0000877622" "21" "70" "9" "32542705" "32542705" "subst" "4.06775E-6" "00000" "TOPORS_000081" "g.32542705A>C" "" "{PMID:Schob 2009:19373681}" "" "TOPORS c.1818T>G/p.S606R" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32542707A>C" "" "likely pathogenic" ""
"0000877623" "0" "70" "9" "32541984" "32541984" "subst" "0" "00000" "TOPORS_000015" "g.32541984G>A" "" "{PMID:Latasiewicz 2017:28453362}" "" "TOPORS c.2539 C>T p.(Arg847Ter)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32541986G>A" "" "likely pathogenic" ""
"0000877624" "21" "70" "9" "32541984" "32541984" "subst" "0" "00000" "TOPORS_000015" "g.32541984G>A" "" "{PMID:Latasiewicz 2017:28453362}" "" "TOPORS c.2539 C>T p.(Arg847Ter)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32541986G>A" "" "likely pathogenic" ""
"0000877625" "21" "70" "9" "32541984" "32541984" "subst" "0" "00000" "TOPORS_000015" "g.32541984G>A" "" "{PMID:Latasiewicz 2017:28453362}" "" "TOPORS c.2539 C>T p.(Arg847Ter)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.32541986G>A" "" "likely pathogenic" ""
"0000915809" "0" "90" "9" "32541966" "32541969" "del" "0" "04436" "TOPORS_000047" "g.32541966_32541969del" "" "{PMID:Panneman 2023:36819107}" "" "c.2554_2557del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000916566" "0" "70" "9" "32541999" "32541999" "dup" "0" "04436" "TOPORS_000048" "g.32541999dup" "" "{PMID:Panneman 2023:36819107}" "" "c.2524dup" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000916632" "0" "70" "9" "32541954" "32541960" "del" "0" "04436" "TOPORS_000082" "g.32541954_32541960del" "" "{PMID:Panneman 2023:36819107}" "" "c.2563_2569del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000916634" "0" "70" "9" "32542049" "32542049" "dup" "0" "04436" "TOPORS_000054" "g.32542049dup" "" "{PMID:Panneman 2023:36819107}" "" "c.2474dup" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000916757" "0" "70" "9" "32542049" "32542049" "dup" "0" "04436" "TOPORS_000054" "g.32542049dup" "" "{PMID:Panneman 2023:36819107}" "" "c.2474dup" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000916762" "0" "70" "9" "32541954" "32541960" "del" "0" "04436" "TOPORS_000082" "g.32541954_32541960del" "" "{PMID:Panneman 2023:36819107}" "" "c.2563_2569del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000949270" "0" "50" "9" "32541627" "32541627" "subst" "0" "02330" "TOPORS_000083" "g.32541627A>C" "" "" "" "TOPORS(NM_005802.5):c.2896T>G (p.C966G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000958017" "1" "90" "9" "32541964" "32541965" "ins" "0" "00006" "TOPORS_000084" "g.32541964_32541965insA" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline" "" "" "0" "" "" "g.32541966_32541967insA" "" "pathogenic (dominant)" "ACMG"
"0000958460" "0" "50" "9" "32542394" "32542394" "subst" "0" "00006" "TOPORS_000086" "g.32542394T>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.32542396T>A" "" "VUS" "ACMG"
"0000958960" "0" "50" "9" "32543318" "32543318" "subst" "0" "00006" "TOPORS_000049" "g.32543318T>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.32543320T>G" "" "VUS" "ACMG"
"0000959384" "1" "50" "9" "32542379" "32542379" "subst" "4.06577E-6" "00006" "TOPORS_000085" "g.32542379C>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.32542381C>G" "" "VUS" "ACMG"
"0000965374" "0" "30" "9" "32543285" "32543285" "subst" "0.00155751" "02330" "TOPORS_000009" "g.32543285T>G" "" "" "" "TOPORS(NM_005802.4):c.1238A>C (p.Q413P), TOPORS(NM_005802.5):c.1238A>C (p.Q413P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000965375" "0" "30" "9" "32543947" "32543947" "subst" "0.00132862" "02330" "TOPORS_000087" "g.32543947C>A" "" "" "" "TOPORS(NM_005802.5):c.576G>T (p.V192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes TOPORS
## Count = 200
"{{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}}"
"0000060534" "00021645" "30" "1730" "0" "1730" "0" "c.1730C>A" "r.(?)" "p.(Ser577Tyr)" "3"
"0000060535" "00021645" "90" "1730" "0" "1730" "0" "c.1730C>A" "r.(?)" "p.(Ser577Tyr)" "3"
"0000060536" "00021645" "10" "58" "0" "58" "0" "c.58C>T" "r.(?)" "p.(Pro20Ser)" "2"
"0000060537" "00021645" "10" "58" "0" "58" "0" "c.58C>T" "r.(?)" "p.(Pro20Ser)" "2"
"0000060538" "00021645" "10" "58" "0" "58" "0" "c.58C>T" "r.(?)" "p.(Pro20Ser)" "2"
"0000060539" "00021645" "10" "58" "0" "58" "0" "c.58C>T" "r.(?)" "p.(Pro20Ser)" "2"
"0000060540" "00021645" "10" "58" "0" "58" "0" "c.58C>T" "r.(?)" "p.(Pro20Ser)" "2"
"0000060541" "00021645" "10" "58" "0" "58" "0" "c.58C>T" "r.(?)" "p.(Pro20Ser)" "2"
"0000060542" "00021645" "10" "58" "0" "58" "0" "c.58C>T" "r.(?)" "p.(Pro20Ser)" "2"
"0000246864" "00021645" "50" "2520" "0" "2520" "0" "c.2520T>G" "r.(?)" "p.(Ser840Arg)" ""
"0000248619" "00021645" "10" "2991" "0" "2991" "0" "c.2991T>C" "r.(?)" "p.(Asp997=)" ""
"0000309373" "00021645" "50" "1214" "0" "1214" "0" "c.1214A>G" "r.(?)" "p.(Asp405Gly)" ""
"0000309374" "00021645" "10" "1560" "0" "1560" "0" "c.1560A>G" "r.(?)" "p.(Gln520=)" ""
"0000309375" "00021645" "30" "2160" "0" "2160" "0" "c.2160C>T" "r.(?)" "p.(Tyr720=)" ""
"0000309376" "00021645" "90" "2518" "0" "2519" "0" "c.2518_2519del" "r.(?)" "p.(Ser840Ter)" ""
"0000316923" "00021645" "50" "1238" "0" "1238" "0" "c.1238A>C" "r.(?)" "p.(Gln413Pro)" ""
"0000316924" "00021645" "30" "1560" "0" "1560" "0" "c.1560A>G" "r.(?)" "p.(Gln520=)" ""
"0000316925" "00021645" "30" "2160" "0" "2160" "0" "c.2160C>T" "r.(?)" "p.(Tyr720=)" ""
"0000316926" "00021645" "30" "2314" "0" "2314" "0" "c.2314C>T" "r.(?)" "p.(Leu772=)" ""
"0000344198" "00021645" "90" "2550" "0" "2553" "0" "c.2550_2553del" "r.(?)" "p.(Asp850GlufsTer15)" ""
"0000476924" "00021645" "50" "3089" "0" "3089" "0" "c.3089G>A" "r.(?)" "p.(Arg1030Gln)" ""
"0000476925" "00021645" "50" "2783" "0" "2783" "0" "c.2783A>G" "r.(?)" "p.(Asn928Ser)" ""
"0000476926" "00021645" "50" "2675" "0" "2675" "0" "c.2675A>G" "r.(?)" "p.(Lys892Arg)" ""
"0000476927" "00021645" "90" "2539" "0" "2539" "0" "c.2539C>T" "r.(?)" "p.(Arg847*)" ""
"0000476928" "00021645" "50" "2498" "0" "2498" "0" "c.2498A>T" "r.(?)" "p.(Asp833Val)" ""
"0000476929" "00021645" "50" "2484" "0" "2486" "0" "c.2484_2486del" "r.(?)" "p.(Ser830del)" ""
"0000476930" "00021645" "90" "2452" "0" "2453" "0" "c.2452_2453insA" "r.(?)" "p.(Ser818Tyrfs*2)" ""
"0000476931" "00021645" "50" "2440" "0" "2440" "0" "c.2440C>T" "r.(?)" "p.(Arg814Cys)" ""
"0000476932" "00021645" "90" "2422" "0" "2422" "0" "c.2422G>T" "r.(?)" "p.(Glu808*)" ""
"0000476933" "00021645" "50" "2369" "0" "2369" "0" "c.2369A>G" "r.(?)" "p.(Glu790Gly)" ""
"0000476934" "00021645" "50" "1849" "0" "1849" "0" "c.1849A>C" "r.(?)" "p.(Lys617Gln)" ""
"0000476935" "00021645" "50" "1845" "0" "1845" "0" "c.1845T>G" "r.(?)" "p.(His615Gln)" ""
"0000476936" "00021645" "50" "961" "0" "961" "0" "c.961A>G" "r.(?)" "p.(Ile321Val)" ""
"0000476937" "00021645" "50" "164" "0" "164" "0" "c.164G>A" "r.(?)" "p.(Ser55Asn)" ""
"0000477572" "00021645" "50" "1849" "0" "1849" "0" "c.1849A>C" "r.(?)" "p.(Lys617Gln)" ""
"0000537925" "00021645" "30" "3147" "0" "3147" "0" "c.*9A>G" "r.(=)" "p.(=)" ""
"0000537926" "00021645" "50" "3055" "0" "3055" "0" "c.3055C>G" "r.(?)" "p.(Gln1019Glu)" ""
"0000537927" "00021645" "50" "3047" "0" "3047" "0" "c.3047T>C" "r.(?)" "p.(Val1016Ala)" ""
"0000537928" "00021645" "50" "3047" "0" "3047" "0" "c.3047T>C" "r.(?)" "p.(Val1016Ala)" ""
"0000537929" "00021645" "10" "2988" "0" "2988" "0" "c.2988C>T" "r.(?)" "p.(Leu996=)" ""
"0000537930" "00021645" "10" "2643" "0" "2643" "0" "c.2643C>G" "r.(?)" "p.(His881Gln)" ""
"0000537931" "00021645" "30" "2643" "0" "2643" "0" "c.2643C>G" "r.(?)" "p.(His881Gln)" ""
"0000537932" "00021645" "90" "2539" "0" "2539" "0" "c.2539C>T" "r.(?)" "p.(Arg847Ter)" ""
"0000537933" "00021645" "10" "2525" "0" "2525" "0" "c.2525C>A" "r.(?)" "p.(Thr842Asn)" ""
"0000537934" "00021645" "30" "2467" "0" "2467" "0" "c.2467A>G" "r.(?)" "p.(Ser823Gly)" ""
"0000537935" "00021645" "30" "2314" "0" "2314" "0" "c.2314C>T" "r.(?)" "p.(Leu772=)" ""
"0000537936" "00021645" "10" "1722" "0" "1722" "0" "c.1722G>A" "r.(?)" "p.(Leu574=)" ""
"0000537937" "00021645" "30" "1720" "0" "1720" "0" "c.1720C>G" "r.(?)" "p.(Leu574Val)" ""
"0000537938" "00021645" "30" "1389" "0" "1389" "0" "c.1389C>T" "r.(?)" "p.(Thr463=)" ""
"0000537939" "00021645" "50" "1079" "0" "1079" "0" "c.1079G>A" "r.(?)" "p.(Arg360Gln)" ""
"0000537940" "00021645" "30" "814" "0" "814" "0" "c.814A>G" "r.(?)" "p.(Ile272Val)" ""
"0000537941" "00021645" "50" "671" "0" "671" "0" "c.671A>G" "r.(?)" "p.(Asp224Gly)" ""
"0000537942" "00021645" "30" "543" "0" "543" "0" "c.543T>C" "r.(?)" "p.(Arg181=)" ""
"0000537943" "00021645" "50" "503" "0" "503" "0" "c.503A>G" "r.(?)" "p.(Asn168Ser)" ""
"0000537944" "00021645" "30" "199" "-9" "199" "-9" "c.199-9C>T" "r.(=)" "p.(=)" ""
"0000537945" "00021645" "30" "159" "0" "159" "0" "c.159G>C" "r.(?)" "p.(Ala53=)" ""
"0000537946" "00021645" "10" "153" "0" "153" "0" "c.153G>A" "r.(?)" "p.(Glu51=)" ""
"0000612074" "00021645" "70" "905" "0" "917" "0" "c.905_917del" "r.(?)" "p.(Arg302LeufsTer9)" ""
"0000612075" "00021645" "30" "489" "0" "489" "0" "c.489A>G" "r.(?)" "p.(Leu163=)" ""
"0000622253" "00021645" "50" "2320" "0" "2320" "0" "c.2320A>G" "r.(?)" "p.(Ser774Gly)" ""
"0000652699" "00021645" "50" "2643" "0" "2643" "0" "c.2643C>G" "r.(?)" "p.(His881Gln)" ""
"0000652700" "00021645" "30" "2245" "0" "2245" "0" "c.2245A>G" "r.(?)" "p.(Asn749Asp)" ""
"0000652701" "00021645" "30" "58" "0" "58" "0" "c.58C>T" "r.(?)" "p.(Pro20Ser)" ""
"0000678658" "00021645" "30" "2434" "0" "2434" "0" "c.2434C>T" "r.(?)" "p.(Pro812Ser)" ""
"0000684587" "00021645" "70" "1205" "0" "1205" "0" "c.1205A>C" "r.(?)" "p.(Gln402Pro)" ""
"0000685487" "00021645" "90" "2554" "0" "2557" "0" "c.2554_2557del" "r.(?)" "p.(Glu852Glnfs*13)" ""
"0000685488" "00021645" "90" "2524" "0" "2524" "0" "c.2524dup" "r.(?)" "p.(Thr842Asnfs*31)" ""
"0000690518" "00021645" "90" "2556" "0" "2557" "0" "c.2556_2557del" "r.(?)" "p.(Glu852AspfsTer20)" ""
"0000690519" "00021645" "30" "1730" "0" "1730" "0" "c.1730C>A" "r.(?)" "p.(Ser577Tyr)" ""
"0000690520" "00021645" "50" "352" "0" "352" "0" "c.352C>T" "r.(?)" "p.(Arg118Cys)" ""
"0000710317" "00021645" "90" "2554" "0" "2557" "0" "c.2554_2557del" "r.(?)" "p.(Glu852Glnfs*13)" ""
"0000713430" "00021645" "90" "2569" "0" "2569" "0" "c.2569del" "r.(?)" "p.(Arg857Glyfs*9)" ""
"0000713648" "00021645" "90" "2556" "0" "2557" "0" "c.2556_2557del" "r.(?)" "p.(Glu852Aspfs*20)" ""
"0000722487" "00021645" "30" "1693" "0" "1693" "0" "c.1693T>C" "r.(?)" "p.(Ser565Pro)" ""
"0000732544" "00021645" "90" "2474" "0" "2474" "0" "c.2474dup" "r.(?)" "p.(Tyr825*)" ""
"0000734712" "00021645" "50" "2484" "0" "2486" "0" "c.2484_2486del" "r.(?)" "p.(Ser830del)" ""
"0000735675" "00021645" "90" "2550" "0" "2553" "0" "c.2550_2553del" "r.(?)" "p.(Asp850Glufs*15)" ""
"0000735936" "00021645" "70" "2524" "0" "2524" "0" "c.2524dupA" "r.(?)" "p.(Thr842AsnfsTer31)" ""
"0000736112" "00021645" "70" "2047" "0" "2047" "0" "c.2047C>T" "r.(?)" "p.(Arg683Trp)" ""
"0000736167" "00021645" "90" "2507" "0" "2507" "0" "c.2507A>G" "r.(?)" "p.(Tyr836Cys)" ""
"0000736354" "00021645" "90" "2556" "0" "2557" "0" "c.2556_2557del" "r.(?)" "p.(Glu852Aspfs*20)" "3"
"0000760263" "00021645" "70" "2539" "0" "2539" "0" "c.2539C>T" "r.(?)" "p.(Arg847*)" ""
"0000765486" "00021645" "70" "2141" "0" "2141" "0" "c.2141A>G" "r.(?)" "p.(Asp714Gly)" ""
"0000765506" "00021645" "70" "23" "0" "23" "0" "c.23G>C" "r.(?)" "p.(Gly8Ala)" ""
"0000765525" "00021645" "90" "2474" "0" "2474" "0" "c.2474dup" "r.(?)" "p.(Tyr825Ter)" "3"
"0000765526" "00021645" "90" "2474" "0" "2474" "0" "c.2474dup" "r.(?)" "p.(Tyr825Ter)" "3"
"0000765527" "00021645" "70" "2666" "0" "2666" "0" "c.2666A>C" "r.(?)" "p.(His889Pro)" "3"
"0000783285" "00021645" "70" "2539" "0" "2539" "0" "c.2539C>T" "r.(?)" "p.(Arg847*)" "2"
"0000783897" "00021645" "50" "2944" "0" "2945" "0" "c.2944_2945del" "r.(?)" "p.(Val982ArgfsTer2)" ""
"0000784124" "00021645" "90" "2554" "0" "2557" "0" "c.2554_2557del" "r.(?)" "p.(Glu852GlnfsTer13)" ""
"0000784185" "00021645" "90" "2550" "0" "2553" "0" "c.2550_2553del" "r.(?)" "p.(Asp850GlufsTer15)" ""
"0000784186" "00021645" "90" "2556" "0" "2557" "0" "c.2556_2557del" "r.(?)" "p.(Glu852AspfsTer20)" ""
"0000784563" "00021645" "50" "1537" "0" "1537" "0" "c.1537G>C" "r.(?)" "p.(Val513Leu)" ""
"0000785546" "00021645" "30" "1730" "0" "1730" "0" "c.1730C>A" "r.(?)" "p.(Ser577Tyr)" ""
"0000786368" "00021645" "70" "1857" "0" "1857" "0" "c.1857T>A" "r.(?)" "p.(His619Gln)" ""
"0000787657" "00021645" "70" "2599" "0" "2610" "0" "c.2599_2610del" "r.(?)" "p.(Val867_Val870del)" ""
"0000788096" "00021645" "90" "2554" "0" "2557" "0" "c.2554_2557del" "r.(?)" "p.(Glu852GlnfsTer13)" ""
"0000790403" "00021645" "70" "74" "0" "74" "0" "c.74C>G" "r.(?)" "p.(Ser25Trp)" ""
"0000790639" "00021645" "50" "2643" "0" "2643" "0" "c.2643C>G" "r.(?)" "p.(His881Gln)" ""
"0000790646" "00021645" "50" "814" "0" "814" "0" "c.814A>G" "r.(?)" "p.(Ile272Val)" ""
"0000790659" "00021645" "50" "1238" "0" "1238" "0" "c.1238A>C" "r.(?)" "p.(Gln413Pro)" ""
"0000791128" "00021645" "90" "2439" "0" "2440" "0" "c.2439_2440del" "r.(?)" "p.(Arg814*)" "3"
"0000791129" "00021645" "90" "2439" "0" "2440" "0" "c.2439_2440del" "r.(?)" "p.(Arg814*)" "3"
"0000791538" "00021645" "70" "2518" "0" "2519" "0" "c.2518_2519del" "r.(?)" "p.(Ser840*)" "3"
"0000791539" "00021645" "70" "2518" "0" "2519" "0" "c.2518_2519del" "r.(?)" "p.(Ser840*)" "3"
"0000791540" "00021645" "70" "2524" "0" "2524" "0" "c.2524dup" "r.(?)" "p.(Thr842Asnfs*31)" "3"
"0000793957" "00021645" "70" "2539" "0" "2539" "0" "c.2539C>T" "r.(?)" "p.(Arg847*)" "3"
"0000795954" "00021645" "70" "2570" "0" "2570" "0" "c.2570G>T" "r.(?)" "p.(Arg857Met)" "3"
"0000795999" "00021645" "50" "671" "0" "671" "0" "c.671A>G" "r.(?)" "p.(Asp224Gly)" "3"
"0000796014" "00021645" "50" "671" "0" "671" "0" "c.671A>G" "r.(?)" "p.(Asp224Gly)" "3"
"0000796801" "00021645" "90" "2554" "0" "2557" "0" "c.2554_2557del" "r.(?)" "p.(Glu852Glnfs*13)" "3"
"0000796805" "00021645" "90" "2550" "0" "2553" "0" "c.2550_2553del" "r.(?)" "p.(Asp850Glufs*15)" "3"
"0000796973" "00021645" "70" "2554" "0" "2557" "0" "c.2554_2557del" "r.(?)" "p.(Glu852Glnfs*13)" "3"
"0000796974" "00021645" "70" "2556" "0" "2557" "0" "c.2556_2557del" "r.(?)" "p.(Glu852Aspfs*20)" "3"
"0000796983" "00021645" "50" "2264" "0" "2264" "0" "c.2264A>G" "r.(?)" "p.(Asn755Ser)" "3"
"0000797119" "00021645" "90" "2550" "0" "2553" "0" "c.2550_2553del" "r.(?)" "p.(Asp850Glufs*15)" "3"
"0000797120" "00021645" "90" "2515" "0" "2515" "0" "c.2515G>T" "r.(?)" "p.(Glu839*)" "3"
"0000797840" "00021645" "90" "2554" "0" "2557" "0" "c.2554_2557del" "r.(?)" "p.(Glu852Glnfs*13)" ""
"0000798087" "00021645" "50" "2873" "0" "2873" "0" "c.2873A>T" "r.(?)" "p.(Glu958Val)" ""
"0000804092" "00021645" "30" "2103" "0" "2103" "0" "c.2103A>G" "r.(?)" "p.(Lys701=)" ""
"0000804093" "00021645" "30" "1373" "0" "1373" "0" "c.1373T>C" "r.(?)" "p.(Ile458Thr)" ""
"0000804094" "00021645" "50" "1222" "0" "1222" "0" "c.1222G>A" "r.(?)" "p.(Val408Ile)" ""
"0000812843" "00021645" "90" "2554" "0" "2557" "0" "c.2554_2557del" "r.(?)" "p.(Glu852Glnfs*13)" ""
"0000815434" "00021645" "50" "881" "0" "881" "0" "c.881A>G" "r.(?)" "p.(His294Arg)" ""
"0000820258" "00021645" "70" "2539" "0" "2539" "0" "c.2539C>T" "r.(?)" "p.(Arg847*)" ""
"0000820259" "00021645" "70" "2539" "0" "2539" "0" "c.2539C>T" "r.(?)" "p.(Arg847*)" ""
"0000820260" "00021645" "70" "2539" "0" "2539" "0" "c.2539C>T" "r.(?)" "p.(Arg847*)" ""
"0000820440" "00021645" "70" "2554" "0" "2557" "0" "c.2554_2557del" "r.(?)" "p.(Glu852Glnfs*13)" ""
"0000820582" "00021645" "70" "3090" "0" "3090" "0" "c.3090dup" "r.(?)" "p.(Thr1031Aspfs*10)" ""
"0000820592" "00021645" "70" "2554" "0" "2557" "0" "c.2554_2557del" "r.(?)" "p.(Glu852Glnfs*13)" ""
"0000821395" "00021645" "90" "2569" "0" "2569" "0" "c.2569del" "r.(?)" "p.(Arg857Glyfs*9)" ""
"0000821396" "00021645" "90" "2556" "0" "2557" "0" "c.2556_2557del" "r.(?)" "p.(Glu852Aspfs*20)" ""
"0000824345" "00021645" "90" "2570" "0" "2570" "0" "c.2570G>T" "r.(?)" "p.(Arg857Met)" "3"
"0000824375" "00021645" "90" "2556" "0" "2557" "0" "c.2556_2557del" "r.(?)" "p.(Glu852Aspfs*20)" "3"
"0000824412" "00021645" "90" "2420" "0" "2420" "0" "c.2420dup" "r.(?)" "p.(Asn807Lysfs*9)" "3"
"0000824660" "00021645" "50" "2514" "0" "2515" "0" "c.2514_2515del" "r.(?)" "p.(Asn838LysfsTer3)" ""
"0000827191" "00021645" "90" "2539" "0" "2539" "0" "c.2539C>T" "r.(?)" "p.(Arg847*)" "3"
"0000829711" "00021645" "70" "2539" "0" "2539" "0" "c.2539C>T" "r.(?)" "p.(Arg847Ter)" ""
"0000829984" "00021645" "50" "2078" "0" "2078" "0" "c.2078G>T" "r.(?)" "p.(Arg693Ile)" "3"
"0000852252" "00021645" "50" "2484" "0" "2486" "0" "c.2484_2486del" "r.(?)" "p.(Ser830del)" ""
"0000852253" "00021645" "30" "1977" "0" "1977" "0" "c.1977T>C" "r.(?)" "p.(Thr659=)" ""
"0000861626" "00021645" "30" "2507" "0" "2507" "0" "c.2507A>G" "r.(?)" "p.(Tyr836Cys)" ""
"0000861627" "00021645" "30" "2349" "0" "2349" "0" "c.2349G>A" "r.(?)" "p.(Gly783=)" ""
"0000861628" "00021645" "30" "858" "0" "858" "0" "c.858C>T" "r.(?)" "p.(Phe286=)" ""
"0000877582" "00021645" "70" "2474" "0" "2475" "0" "c.2474_2475insA" "r.(?)" "p.(Tyr825*)" "3"
"0000877583" "00021645" "70" "2474" "0" "2475" "0" "c.2474_2475insA" "r.(?)" "p.(Tyr825*)" "3"
"0000877584" "00021645" "70" "2474" "0" "2475" "0" "c.2474_2475insA" "r.(?)" "p.(Tyr825*)" "3"
"0000877585" "00021645" "70" "2474" "0" "2475" "0" "c.2474_2475insA" "r.(?)" "p.(Tyr825*)" "3"
"0000877586" "00021645" "70" "2474" "0" "2475" "0" "c.2474_2475insA" "r.(?)" "p.(Tyr825*)" "3"
"0000877587" "00021645" "70" "2474" "0" "2475" "0" "c.2474_2475insA" "r.(?)" "p.(Tyr825*)" "3"
"0000877588" "00021645" "70" "2474" "0" "2475" "0" "c.2474_2475insA" "r.(?)" "p.(Tyr825*)" "3"
"0000877589" "00021645" "70" "2474" "0" "2475" "0" "c.2474_2475insA" "r.(?)" "p.(Tyr825*)" "3"
"0000877590" "00021645" "70" "2474" "0" "2475" "0" "c.2474_2475insA" "r.(?)" "p.(Tyr825*)" "3"
"0000877591" "00021645" "70" "2474" "0" "2475" "0" "c.2474_2475insA" "r.(?)" "p.(Tyr825*)" "3"
"0000877592" "00021645" "70" "2474" "0" "2475" "0" "c.2474_2475insA" "r.(?)" "p.(Tyr825*)" "3"
"0000877593" "00021645" "70" "2474" "0" "2475" "0" "c.2474_2475insA" "r.(?)" "p.(Tyr825*)" "3"
"0000877594" "00021645" "70" "2474" "0" "2475" "0" "c.2474_2475insA" "r.(?)" "p.(Tyr825*)" "3"
"0000877595" "00021645" "70" "2474" "0" "2475" "0" "c.2474_2475insA" "r.(?)" "p.(Tyr825*)" "3"
"0000877596" "00021645" "70" "2474" "0" "2475" "0" "c.2474_2475insA" "r.(?)" "p.(Tyr825*)" "3"
"0000877597" "00021645" "70" "2474" "0" "2475" "0" "c.2474_2475insA" "r.(?)" "p.(Tyr825*)" "3"
"0000877598" "00021645" "70" "2474" "0" "2475" "0" "c.2474_2475insA" "r.(?)" "p.(Tyr825*)" "3"
"0000877599" "00021645" "70" "2552" "0" "2553" "0" "c.2552_2553delGA" "r.(?)" "p.(Glu852Aspfs*20)" ""
"0000877600" "00021645" "70" "2552" "0" "2553" "0" "c.2552_2553delGA" "r.(?)" "p.(Glu852Aspfs*20)" ""
"0000877602" "00021645" "70" "2569" "0" "2569" "0" "c.2569delA" "r.(?)" "p.(Arg857Glyfs*9)" "3"
"0000877603" "00021645" "70" "2422" "0" "2422" "0" "c.2422G>T" "r.(?)" "p.(Glu808*)" "3"
"0000877604" "00021645" "70" "2422" "0" "2422" "0" "c.2422G>T" "r.(?)" "p.(Glu808*)" "3"
"0000877605" "00021645" "70" "2422" "0" "2422" "0" "c.2422G>T" "r.(?)" "p.(Glu808*)" "3"
"0000877606" "00021645" "70" "2422" "0" "2422" "0" "c.2422G>T" "r.(?)" "p.(Glu808*)" "3"
"0000877607" "00021645" "70" "2422" "0" "2422" "0" "c.2422G>T" "r.(?)" "p.(Glu808*)" "3"
"0000877608" "00021645" "70" "2422" "0" "2422" "0" "c.2422G>T" "r.(?)" "p.(Glu808*)" "3"
"0000877609" "00021645" "70" "2422" "0" "2422" "0" "c.2422G>T" "r.(?)" "p.(Glu808*)" "3"
"0000877610" "00021645" "70" "1205" "0" "1205" "0" "c.1205A>C" "r.(?)" "p.(Gln402Pro)" "3"
"0000877611" "00021645" "70" "1205" "0" "1205" "0" "c.1205A>C" "r.(?)" "p.(Gln402Pro)" "3"
"0000877612" "00021645" "70" "1205" "0" "1205" "0" "c.1205A>C" "r.(?)" "p.(Gln402Pro)" "3"
"0000877613" "00021645" "70" "1205" "0" "1205" "0" "c.1205A>C" "r.(?)" "p.(Gln402Pro)" "3"
"0000877614" "00021645" "70" "1205" "0" "1205" "0" "c.1205A>C" "r.(?)" "p.(Gln402Pro)" "3"
"0000877615" "00021645" "70" "1205" "0" "1205" "0" "c.1205A>C" "r.(?)" "p.(Gln402Pro)" "3"
"0000877616" "00021645" "70" "1205" "0" "1205" "0" "c.1205A>C" "r.(?)" "p.(Gln402Pro)" "3"
"0000877617" "00021645" "70" "1205" "0" "1205" "0" "c.1205A>C" "r.(?)" "p.(Gln402Pro)" "3"
"0000877618" "00021645" "70" "1205" "0" "1205" "0" "c.1205A>C" "r.(?)" "p.(Gln402Pro)" "3"
"0000877619" "00021645" "70" "1205" "0" "1205" "0" "c.1205A>C" "r.(?)" "p.(Gln402Pro)" "3"
"0000877620" "00021645" "70" "1205" "0" "1205" "0" "c.1205A>C" "r.(?)" "p.(Gln402Pro)" "3"
"0000877621" "00021645" "70" "1818" "0" "1818" "0" "c.1818T>G" "r.(?)" "p.(Ser606Arg)" "3"
"0000877622" "00021645" "70" "1818" "0" "1818" "0" "c.1818T>G" "r.(?)" "p.(Ser606Arg)" "3"
"0000877623" "00021645" "70" "2539" "0" "2539" "0" "c.2539C>T" "r.(?)" "p.(Arg847*)" "3"
"0000877624" "00021645" "70" "2539" "0" "2539" "0" "c.2539C>T" "r.(?)" "p.(Arg847*)" "3"
"0000877625" "00021645" "70" "2539" "0" "2539" "0" "c.2539C>T" "r.(?)" "p.(Arg847*)" "3"
"0000915809" "00021645" "90" "2554" "0" "2557" "0" "c.2554_2557del" "r.(?)" "p.(Glu852Glnfs*13)" "3"
"0000916566" "00021645" "70" "2524" "0" "2524" "0" "c.2524dup" "r.(?)" "p.(Thr842Asnfs*31)" "3"
"0000916632" "00021645" "70" "2563" "0" "2569" "0" "c.2563_2569del" "r.(?)" "p.(His855Glyfs*9)" "3"
"0000916634" "00021645" "70" "2474" "0" "2474" "0" "c.2474dup" "r.(?)" "p.(Tyr825*)" "3"
"0000916757" "00021645" "70" "2474" "0" "2474" "0" "c.2474dup" "r.(?)" "p.(Tyr825*)" "3"
"0000916762" "00021645" "70" "2563" "0" "2569" "0" "c.2563_2569del" "r.(?)" "p.(His855Glyfs*9)" "3"
"0000949270" "00021645" "50" "2896" "0" "2896" "0" "c.2896T>G" "r.(?)" "p.(Cys966Gly)" ""
"0000958017" "00021645" "90" "2558" "0" "2559" "0" "c.2558_2559insT" "r.(?)" "p.(His855ThrfsTer18)" ""
"0000958460" "00021645" "50" "2129" "0" "2129" "0" "c.2129A>T" "r.(?)" "p.(Asn710Ile)" ""
"0000958960" "00021645" "50" "1205" "0" "1205" "0" "c.1205A>C" "r.(?)" "p.(Gln402Pro)" ""
"0000959384" "00021645" "50" "2144" "0" "2144" "0" "c.2144G>C" "r.(?)" "p.(Gly715Ala)" ""
"0000965374" "00021645" "30" "1238" "0" "1238" "0" "c.1238A>C" "r.(?)" "p.(Gln413Pro)" ""
"0000965375" "00021645" "30" "576" "0" "576" "0" "c.576G>T" "r.(?)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 148
"{{screeningid}}" "{{variantid}}"
"0000033156" "0000060534"
"0000033159" "0000060536"
"0000033160" "0000060537"
"0000033161" "0000060538"
"0000033175" "0000060539"
"0000033179" "0000060540"
"0000033194" "0000060535"
"0000033197" "0000060541"
"0000033209" "0000060542"
"0000174776" "0000784124"
"0000174782" "0000790659"
"0000234216" "0000476924"
"0000234217" "0000476925"
"0000234218" "0000476926"
"0000234219" "0000476927"
"0000234220" "0000476928"
"0000234221" "0000476929"
"0000234222" "0000476930"
"0000234223" "0000476931"
"0000234224" "0000476932"
"0000234225" "0000476933"
"0000234226" "0000476934"
"0000234227" "0000476935"
"0000234228" "0000476936"
"0000234229" "0000476937"
"0000234864" "0000477572"
"0000296010" "0000652699"
"0000296011" "0000652700"
"0000296012" "0000652701"
"0000309714" "0000684587"
"0000310576" "0000685487"
"0000310577" "0000685488"
"0000326725" "0000710317"
"0000329307" "0000713430"
"0000329525" "0000713648"
"0000334612" "0000732544"
"0000335800" "0000734712"
"0000336400" "0000735675"
"0000336540" "0000735936"
"0000336667" "0000736112"
"0000336679" "0000736167"
"0000336818" "0000736354"
"0000360371" "0000760263"
"0000364621" "0000765486"
"0000364624" "0000765506"
"0000364650" "0000765525"
"0000364651" "0000765526"
"0000364652" "0000765527"
"0000373313" "0000783285"
"0000373730" "0000783897"
"0000373872" "0000784185"
"0000373873" "0000784186"
"0000373900" "0000784563"
"0000374723" "0000785546"
"0000375101" "0000786368"
"0000376124" "0000787657"
"0000376488" "0000788096"
"0000377953" "0000790403"
"0000378000" "0000790639"
"0000378003" "0000790646"
"0000378373" "0000791128"
"0000378374" "0000791129"
"0000378689" "0000791538"
"0000378690" "0000791539"
"0000378691" "0000791540"
"0000380765" "0000793957"
"0000382238" "0000795954"
"0000382260" "0000795999"
"0000382270" "0000796014"
"0000382869" "0000796801"
"0000382871" "0000796805"
"0000382995" "0000796973"
"0000382996" "0000796974"
"0000383005" "0000796983"
"0000383127" "0000797119"
"0000383128" "0000797120"
"0000383654" "0000797840"
"0000383819" "0000798087"
"0000385729" "0000812843"
"0000387422" "0000815434"
"0000390913" "0000820258"
"0000390914" "0000820259"
"0000390915" "0000820260"
"0000391095" "0000820440"
"0000391237" "0000820582"
"0000391247" "0000820592"
"0000391645" "0000821395"
"0000391646" "0000821396"
"0000393568" "0000824345"
"0000393595" "0000824375"
"0000393631" "0000824412"
"0000393838" "0000824660"
"0000395789" "0000827191"
"0000397663" "0000829711"
"0000397839" "0000829984"
"0000417850" "0000877582"
"0000417851" "0000877583"
"0000417852" "0000877584"
"0000417853" "0000877585"
"0000417854" "0000877586"
"0000417855" "0000877587"
"0000417856" "0000877588"
"0000417857" "0000877589"
"0000417858" "0000877590"
"0000417859" "0000877591"
"0000417860" "0000877592"
"0000417861" "0000877593"
"0000417862" "0000877594"
"0000417863" "0000877595"
"0000417864" "0000877596"
"0000417865" "0000877597"
"0000417866" "0000877598"
"0000417867" "0000877599"
"0000417868" "0000877600"
"0000417869" "0000877602"
"0000417870" "0000877603"
"0000417871" "0000877604"
"0000417872" "0000877605"
"0000417873" "0000877606"
"0000417874" "0000877607"
"0000417875" "0000877608"
"0000417876" "0000877609"
"0000417877" "0000877610"
"0000417878" "0000877611"
"0000417879" "0000877612"
"0000417880" "0000877613"
"0000417881" "0000877614"
"0000417882" "0000877615"
"0000417883" "0000877616"
"0000417884" "0000877617"
"0000417885" "0000877618"
"0000417886" "0000877619"
"0000417887" "0000877620"
"0000417888" "0000877621"
"0000417889" "0000877622"
"0000417891" "0000877623"
"0000417892" "0000877624"
"0000417893" "0000877625"
"0000430918" "0000915809"
"0000431423" "0000916566"
"0000431461" "0000916632"
"0000431463" "0000916634"
"0000431551" "0000916757"
"0000431555" "0000916762"
"0000448531" "0000958017"
"0000448584" "0000958460"
"0000449177" "0000959384"
"0000449193" "0000958960"