### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CNGA1) # 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}}" "CNGA1" "cyclic nucleotide gated channel alpha 1" "4" "p12" "unknown" "NG_009193.1" "UD_132118416176" "" "https://www.LOVD.nl/CNGA1" "" "1" "2148" "1259" "123825" "1" "1" "1" "1" "MANE select NM_001379270.1\r\nThis database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/CNGA1_NM_001142564.1_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-06 00:00:00" "00006" "2024-01-24 20:04:12" "00006" "2025-04-07 13:47:05" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00005378" "CNGA1" "transcript variant 2" "001" "NM_000087.3" "" "NP_000078.2" "" "" "" "-266" "2517" "2073" "48014961" "47937994" "" "0000-00-00 00:00:00" "" "" "00025403" "CNGA1" "transcript variant 1" "003" "NM_001142564.1" "" "NP_001136036.1" "" "" "" "-141" "2724" "2280" "47983550" "47937994" "00008" "2019-05-03 20:52:51" "" "" ## 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}}" "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" "03418" "RP49" "retinitis pigmentosa, type 49 (RP49)" "" "613756" "" "" "" "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" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CNGA1" "03418" ## Individuals ## Do not remove or alter this header ## ## Count = 182 "{{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}}" "00001805" "" "" "" "1" "" "00102" "" "" "" "" "(United States)" "" "0" "" "" "" "" "00095947" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "61039" "00143966" "" "" "" "1" "" "01780" "{PMID:Xu 2014:24938718}" "" "M" "yes" "China" "" "0" "" "" "Chinese" "" "00155419" "" "" "" "3" "" "01243" "{PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}" "family" "F" "no" "Israel" "" "0" "" "" "Morocco;Jewish" "MOL0927" "00232580" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232581" "" "" "" "5" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232582" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232583" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232584" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232585" "" "" "" "12" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232586" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232587" "" "" "" "4" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232588" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232589" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232590" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232591" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232592" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232593" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232594" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232595" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232596" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232597" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232598" "" "" "" "562" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232599" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232600" "" "" "" "5" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1196 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232601" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232602" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232603" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232604" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232605" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233676" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233677" "" "" "" "181" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233678" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1196 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00234321" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00293620" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293621" "" "" "" "28" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308494" "" "" "" "2" "" "00004" "{PMID:Holtan 2020:31429209}" "2 patients with variant in heterozygous or compound heterozygous form" "" "" "Norway" "" "0" "" "" "" "" "00309056" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309057" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309058" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309059" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309060" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00309061" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309062" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309063" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00328115" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G005237" "00328331" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "W000341" "00331276" "" "" "" "1" "" "00000" "{PMID:Maeda 2018:29785639}" "patient, no family history" "F" "" "Japan" "" "0" "" "" "" "Pat30" "00331701" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "family" "" "no" "China" "" "0" "" "" "" "19512" "00331702" "" "" "" "1" "" "00000" "{PMID:Sun 2018:29625443}" "family" "" "no" "China" "" "0" "" "" "" "19650" "00332528" "" "" "" "1" "" "00006" "{PMID:Comander 2017:28981474}" "proband" "F" "" "United States" "" "0" "" "" "" "Pat6" "00333352" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat5" "00335400" "" "" "" "1" "" "00000" "{PMID:Huang 2018:29641573}" "" "" "" "" "" "0" "" "" "" "RP038" "00359153" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13000106" "00359183" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13009346" "00362171" "" "" "" "1" "" "00000" "{PMID:Perez-Carro 2016:26806561}" "" "" "" "Spain" "" "0" "" "" "" "RP-1147" "00363511" "" "" "" "1" "" "00000" "{PMID:Yang 2015:26496393}" "family" "M" "" "China" "" "0" "" "" "Han" "RP88" "00363512" "" "" "" "1" "" "00000" "{PMID:Yang 2015:26496393}" "family" "M" "" "China" "" "0" "" "" "Han" "RP135" "00372623" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP314" "00372656" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "F" "" "China" "" "0" "" "" "" "RP309" "00372665" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "F" "" "China" "" "0" "" "" "" "RP313" "00372671" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "F" "" "China" "" "0" "" "" "" "RP193" "00372675" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "M" "" "China" "" "0" "" "" "" "RP298" "00372688" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP065" "00372715" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP252" "00372746" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP329" "00373412" "" "" "" "3" "" "00000" "{PMID:Maria 2015:25775262}" "family" "" "" "Pakistan" "" "0" "" "" "" "Fam08" "00373505" "" "" "" "1" "" "00000" "{PMID:Liu 2015:25611614}" "" "F" "" "China" "" "0" "" "" "" "RH20-PatII1" "00373810" "" "" "" "1" "" "00000" "{PMID:Méndez-Vidal 2014:25494902}" "" "" "" "Spain" "" "0" "" "" "" "Pat7" "00374901" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "M" "yes" "China" "" "0" "" "" "" "W146-1" "00375328" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "family" "" "" "Japan" "" "0" "" "" "" "K6118" "00375329" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "simplex case" "" "" "Japan" "" "0" "" "" "" "K6263" "00375330" "" "" "" "1" "" "00000" "{PMID:Oishi 2014:25324289}" "family" "" "" "Japan" "" "0" "" "" "" "K6377" "00375411" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#002" "00375425" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#019" "00375427" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#021" "00375434" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#029" "00376187" "" "" "" "1" "" "00000" "{PMID:Jin 2008:18310263}" "" "" "" "Japan" "" "0" "" "" "" "" "00376516" "" "" "" "1" "" "00000" "{PMID:Singh 2009:19339744}" "" "" "yes" "" "" "0" "" "" "Indian" "" "00376775" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "39" "00376782" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "48" "00377218" "" "" "" "1" "" "00000" "Tracewska 2021, MolVis in press" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "317" "00377501" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "RP-0038" "00377815" "" "" "" "1" "" "00000" "{PMID:Avila Fernandez 2010:21151602}" "" "" "" "" "" "0" "" "" "Spanish" "" "00377836" "" "" "" "1" "" "00000" "{PMID:Avila Fernandez 2010:21151602}" "" "" "yes" "" "" "0" "" "" "Spanish" "" "00377837" "" "" "" "1" "" "00000" "{PMID:Avila Fernandez 2010:21151602}" "" "" "" "" "" "0" "" "" "Spanish" "" "00377838" "" "" "" "1" "" "00000" "{PMID:Avila Fernandez 2010:21151602}" "" "" "" "" "" "0" "" "" "Spanish" "" "00379399" "" "" "" "1" "" "00000" "{PMID:Simpson-2011:21147909}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00379659" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0042" "00379820" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "F" "?" "China" "" "0" "" "" "Han Chinese" "2016111416" "00380209" "" "" "" "1" "" "00000" "{PMID:Ezquerra-Inchausti 2018:30337596}" "Family RP77, II:3" "?" "no" "Spain" "" "0" "" "" "" "II:3" "00380210" "" "" "" "1" "" "00000" "{PMID:Ezquerra-Inchausti 2018:30337596}" "Family RP77, II:4" "?" "no" "Spain" "" "0" "" "" "" "II:4" "00381015" "" "" "" "1" "" "00000" "{PMID:Chen-2013:23462753}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00381621" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "M" "no" "Germany" "" "0" "" "" "" "" "00381635" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "M" "no" "Germany" "" "0" "" "" "" "" "00381713" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "no" "" "" "0" "" "" "" "" "00381881" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:30543658}" "" "F" "" "Germany" "" "0" "" "" "" "31" "00382519" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "381" "00382520" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "382" "00382521" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "383" "00383746" "" "" "" "1" "" "00000" "{PMID:Gao 2019:31054281}" "" "?" "" "China" "" "0" "" "" "" "RD17021577_A" "00383805" "" "" "" "1" "" "00000" "{PMID:Gao 2019:31054281}" "" "?" "" "China" "" "0" "" "" "" "RD18184138_B" "00383966" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1080" "00384012" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1647" "00384013" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1656" "00384057" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1984" "00384069" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2093" "00384095" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2262" "00384097" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2284" "00384105" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2320" "00384739" "" "" "" "1" "" "00000" "{PMID:González-del Pozo-2011:22164218}" "" "" "" "" "" "0" "" "" "Spanish" "" "00384751" "" "" "" "3" "" "00000" "{PMID:González-del Pozo-2011:22164218}" "" "" "" "" "" "0" "" "" "Spanish" "" "00384752" "" "" "" "1" "" "00000" "{PMID:González-del Pozo-2011:22164218}" "" "" "" "" "" "0" "" "" "Spanish" "" "00384753" "" "" "" "1" "" "00000" "{PMID:González-del Pozo-2011:22164218}" "" "" "" "" "" "0" "" "" "Spanish" "" "00385704" "" "" "" "1" "" "00000" "{PMID:Dan 2020:31960602}" "" "F" "?" "China" "" "0" "" "" "" "16" "00385712" "" "" "" "1" "" "00000" "{PMID:Dan 2020:31960602}" "" "M" "?" "China" "" "0" "" "" "" "58" "00386174" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-287" "00386211" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-166, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-332" "00386255" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-536" "00386264" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-39, proband" "M" "" "Spain" "" "0" "" "" "" "RPN-106" "00386615" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "121-050" "00386620" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "121-095" "00386633" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "121-144" "00388794" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 40, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "78" "00389444" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 276, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "728" "00389663" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 422, autosomal recessive retinitis pigmentosa , no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "947" "00389855" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 789, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1139" "00389883" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 837, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1167" "00389885" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 840, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1169" "00390221" "" "" "" "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" "" "" "" "G005237" "00390222" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000341" "00390777" "" "" "" "1" "" "00000" "{PMID:Booij-2011:20801516}" "" "" "" "" "" "0" "" "" "" "" "00391358" "" "" "" "1" "" "00000" "{PMID:Méjécase 2020:3278337" "" "?" "" "United Arab Emirates" "" "0" "" "" "" "14" "00392580" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "31" "00393578" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393660" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393683" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393692" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393734" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393775" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393781" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393879" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00394549" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394550" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394551" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00394552" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "M" "yes" "" "" "0" "" "" "" "" "00396494" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00396499" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00396546" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00396548" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00396570" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00396594" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00409206" "" "" "" "1" "" "00000" "{PMID:Paloma 2002:12362048}" "family M-68, individual II:6, proband" "M" "" "Spain" "" "0" "" "" "" "M-68_II:6" "00409207" "" "" "" "1" "" "00000" "{PMID:Paloma 2002:12362048}" "family M-68, individual II:1, proband\'s sister" "F" "" "Spain" "" "0" "" "" "" "M-68_II:1" "00409208" "" "" "" "1" "" "00000" "{PMID:Zhang 2004:15570217}" "" "M" "" "Pakistan" "" "0" "" "" "" "34" "00409209" "" "" "" "1" "" "00000" "{PMID:Zhang 2004:15570217}" "" "M" "" "Pakistan" "" "0" "" "" "" "11" "00409210" "" "" "" "1" "" "00000" "{PMID:Zhang 2004:15570217}" "" "M" "" "Pakistan" "" "0" "" "" "" "18" "00409211" "" "" "" "1" "" "00000" "{PMID:Zhang 2004:15570217}" "" "M" "" "Pakistan" "" "0" "" "" "" "19" "00409212" "" "" "" "1" "" "00000" "{PMID:Zhang 2004:15570217}" "" "F" "" "Pakistan" "" "0" "" "" "" "30" "00409213" "" "" "" "1" "" "00000" "{PMID:Zhang 2004:15570217}" "" "M" "" "Pakistan" "" "0" "" "" "" "36" "00409214" "" "" "" "1" "" "00000" "{PMID:Zhang 2004:15570217}" "" "F" "" "Pakistan" "" "0" "" "" "" "41" "00409215" "" "" "" "1" "" "00000" "{PMID:Jin 2016:26802146}" "" "F" "" "China" "" "0" "" "" "" "" "00409216" "" "" "" "1" "" "00000" "{PMID:Jin 2016:26802146}" "" "F" "" "China" "" "0" "" "" "" "" "00409217" "" "" "" "1" "" "00000" "{PMID:Wang 2016:27391953}" "" "M" "" "China" "" "0" "" "" "" "II:3" "00409218" "" "" "" "1" "" "00000" "{PMID:Wang 2016:27391953}" "" "M" "" "China" "" "0" "" "" "" "II:1" "00409220" "" "" "" "1" "" "00000" "{PMID:Gao 2018:30652268}" "" "F" "" "China" "" "0" "" "" "" "II:3" "00414401" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP68" "00426919" "" "" "" "1" "" "00000" "{PMID:Zhu 2022:35456422}" "family 25, individual 28" "M" "" "" "" "0" "" "" "" "25_28" "00429596" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00429696" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00429711" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00429728" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00430076" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00430088" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00430103" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00436428" "" "" "" "1" "" "04552" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "F" "no" "Mexico" "" "" "" "none" "Hispanic" "2694980" "00446979" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "ARRP-408" "00446980" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "ARRP-409" "00447566" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "MISC-194" "00447688" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "OAK-801" "00447694" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "F" "" "Germany" "" "0" "" "" "" "SRP-326" "00447711" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "SRP-1213" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 182 "{{individualid}}" "{{diseaseid}}" "00001805" "00112" "00095947" "04214" "00143966" "04214" "00155419" "04214" "00232580" "04214" "00232581" "04214" "00232582" "04214" "00232583" "04214" "00232584" "04214" "00232585" "04214" "00232586" "04214" "00232587" "04214" "00232588" "04214" "00232589" "04214" "00232590" "04214" "00232591" "04214" "00232592" "04214" "00232593" "04214" "00232594" "04214" "00232595" "04214" "00232596" "04214" "00232597" "04214" "00232598" "04214" "00232599" "04214" "00232600" "04214" "00232601" "04214" "00232602" "04214" "00232603" "04214" "00232604" "04214" "00232605" "04214" "00233676" "04214" "00233677" "04214" "00233678" "04214" "00234321" "00198" "00293620" "00198" "00293621" "00198" "00308494" "04214" "00309056" "04214" "00309057" "04214" "00309058" "04214" "00309059" "04214" "00309060" "04214" "00309061" "04214" "00309062" "04214" "00309063" "04214" "00328115" "04214" "00328331" "04214" "00331276" "04214" "00331701" "05086" "00331702" "05086" "00332528" "04214" "00333352" "04214" "00335400" "04214" "00359153" "04214" "00359183" "04214" "00362171" "04214" "00363511" "04214" "00363512" "04214" "00372623" "04214" "00372656" "04214" "00372665" "04214" "00372671" "04214" "00372675" "04214" "00372688" "04214" "00372715" "04214" "00372746" "04214" "00373412" "04214" "00373505" "04214" "00373810" "04214" "00374901" "04214" "00375328" "04214" "00375329" "04214" "00375330" "04214" "00375411" "04214" "00375425" "04214" "00375427" "04214" "00375434" "04214" "00376187" "04214" "00376516" "04214" "00376775" "04214" "00376782" "04214" "00377218" "04214" "00377501" "04214" "00377815" "04214" "00377836" "04214" "00377837" "04214" "00377838" "04214" "00379399" "04214" "00379659" "00112" "00379820" "04214" "00380209" "04214" "00380210" "04214" "00381015" "04214" "00381621" "04214" "00381635" "04214" "00381713" "04214" "00381881" "04214" "00382519" "04214" "00382520" "04214" "00382521" "04214" "00383746" "04214" "00383805" "04214" "00383966" "04214" "00384012" "04214" "00384013" "04214" "00384057" "04214" "00384069" "04214" "00384095" "04214" "00384097" "04214" "00384105" "04214" "00384739" "04214" "00384751" "04214" "00384752" "04214" "00384753" "04214" "00385704" "04214" "00385712" "04214" "00386174" "04214" "00386211" "04214" "00386255" "04214" "00386264" "04214" "00386615" "04214" "00386620" "04214" "00386633" "04214" "00388794" "04214" "00389444" "04214" "00389663" "04214" "00389855" "04214" "00389883" "04214" "00389885" "04214" "00390221" "04214" "00390222" "04214" "00390777" "04214" "00391358" "04214" "00392580" "04214" "00393578" "04214" "00393660" "04214" "00393683" "04214" "00393692" "04214" "00393734" "04214" "00393775" "04214" "00393781" "04214" "00393879" "04214" "00394549" "04214" "00394550" "04214" "00394551" "04214" "00394552" "04214" "00396494" "04214" "00396499" "04214" "00396546" "04214" "00396548" "04214" "00396570" "04214" "00396594" "04214" "00409206" "04214" "00409207" "04214" "00409208" "04214" "00409209" "04214" "00409210" "04214" "00409211" "04214" "00409212" "04214" "00409213" "04214" "00409214" "04214" "00409215" "04214" "00409216" "04214" "00409217" "04214" "00409218" "04214" "00409220" "04214" "00414401" "00198" "00426919" "04214" "00429596" "00112" "00429696" "00112" "00429711" "00112" "00429728" "00112" "00430076" "00112" "00430088" "00112" "00430103" "00112" "00436428" "00112" "00446979" "00198" "00446980" "00198" "00447566" "00198" "00447688" "00198" "00447694" "00198" "00447711" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 03418, 04214, 05086 ## Count = 150 "{{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}}" "0000074224" "04214" "00095947" "01769" "Familial, autosomal recessive" "" "progressive RP" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000116744" "04214" "00143966" "01780" "Familial, autosomal recessive" "" "Age examination 30: first symptom: poor vision, night blindness; visual acuity OD/OS: 0,3/0,4, fundus exam.: attenuated retinal arteries, pigment deposit, no foveal reflex" "13y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000127919" "04214" "00155419" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000174740" "00198" "00234321" "01807" "Unknown" "" "HP:0000510 (Rod-cone dystrophy)" "" "" "" "" "" "" "" "" "" "" "" "0000233922" "04214" "00308494" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000234376" "04214" "00309056" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234377" "04214" "00309057" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234378" "04214" "00309058" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234379" "04214" "00309059" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234380" "04214" "00309060" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234381" "04214" "00309061" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234382" "04214" "00309062" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234383" "04214" "00309063" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246342" "04214" "00328115" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246558" "04214" "00328331" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000249470" "04214" "00331276" "00000" "Familial, autosomal recessive" "23y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000249893" "05086" "00331701" "00000" "Familial, autosomal recessive" "44y" "childhood onset" "" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000249894" "05086" "00331702" "00000" "Familial, autosomal recessive" "33y" "profound hearing loss; history ototoxic drug usage" "2y" "" "" "" "" "" "" "" "" "Usher syndrome, type II" "" "0000250716" "04214" "00332528" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "pericentral retinitis pigmentosa" "" "0000251539" "04214" "00333352" "00000" "Familial, autosomal recessive" "64y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253346" "04214" "00335400" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254450" "04214" "00359153" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254480" "04214" "00359183" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000257585" "04214" "00362171" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000258861" "04214" "00363511" "00000" "Familial, autosomal recessive" "48y" "childhood onset; visual acuity R finger counting, L finger counting; bilateral retinal vascular attenuation, bone spicule like pigmentation throughout the fundus, chorioretinal degeneration, pale optic disc" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000258862" "04214" "00363512" "00000" "Familial, autosomal recessive" "36y" "visual acuity R 0.3, L 0.2; bilateral attenuation of retinal arterioles, bone spicule like pigmentation in the mid-periphery retina, RPE degeneration, pale optic disc" "5y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267902" "04214" "00372623" "00000" "Familial, autosomal dominant" "28y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267935" "04214" "00372656" "00000" "Familial, autosomal recessive" "53y" "see paper; ..." "25y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267944" "04214" "00372665" "00000" "Familial, autosomal recessive" "45y" "see paper; ..." "30y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267950" "04214" "00372671" "00000" "Familial, autosomal recessive" "25y" "see paper; ..." "22y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267954" "04214" "00372675" "00000" "Familial, autosomal recessive" "33y" "see paper; ..." "28y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267967" "04214" "00372688" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267994" "04214" "00372715" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268025" "04214" "00372746" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268688" "04214" "00373412" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268781" "04214" "00373505" "00000" "Familial, autosomal recessive" "15y" "see paper; ..." "4y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269019" "04214" "00373810" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270111" "04214" "00374901" "00000" "Isolated (sporadic)" "32y" "best corrected visual acuity 0.6/0.6" "5y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270542" "04214" "00375328" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270543" "04214" "00375329" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270544" "04214" "00375330" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270625" "04214" "00375411" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270639" "04214" "00375425" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270641" "04214" "00375427" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270648" "04214" "00375434" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271397" "04214" "00376187" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "simplex renitis pigmentosa" "" "0000271723" "04214" "00376516" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000271986" "04214" "00376775" "00000" "Familial, autosomal dominant" "55y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271993" "04214" "00376782" "00000" "Familial, autosomal dominant" "41y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272376" "04214" "00377218" "00000" "Familial, autosomal recessive" "66y" "see paper" "8y" "9y" "" "" "" "" "" "" "retinitis pigmentosa, type 49 (RP49)" "retinal disease" "" "0000272651" "04214" "00377501" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "RP49" "retinitis pigmentosa" "" "0000272961" "04214" "00377815" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Juvenile Retinitis pigmentaria" "" "0000272982" "04214" "00377836" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Typical Retinitis pigmentaria" "" "0000272983" "04214" "00377837" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Typical Retinitis pigmentaria" "" "0000272984" "04214" "00377838" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Typical Retinitis pigmentaria" "" "0000273272" "04214" "00379399" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000273503" "00112" "00379659" "03508" "Familial, autosomal recessive" "" "HP:0032037,\tHP:0000662,\tHP:0000007,\tHP:0000510,\tHP:0001133" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000273674" "04214" "00379820" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000274064" "04214" "00380209" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000274065" "04214" "00380210" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000274866" "04214" "00381015" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa (RP)" "" "0000275463" "04214" "00381621" "00000" "Isolated (sporadic)" "" "" "43y" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" "" "0000275477" "04214" "00381635" "00000" "Isolated (sporadic)" "" "" "50y" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" "" "0000275555" "04214" "00381713" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000275723" "04214" "00381881" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000276368" "04214" "00382519" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276369" "04214" "00382520" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Macular dystrophy unspecified" "" "0000276370" "04214" "00382521" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000277531" "04214" "00383746" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000277590" "04214" "00383805" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000277751" "04214" "00383966" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277797" "04214" "00384012" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277798" "04214" "00384013" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277842" "04214" "00384057" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277854" "04214" "00384069" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277880" "04214" "00384095" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277882" "04214" "00384097" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277890" "04214" "00384105" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000278522" "04214" "00384739" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278534" "04214" "00384751" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278535" "04214" "00384752" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278536" "04214" "00384753" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000279517" "04214" "00385704" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279525" "04214" "00385712" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000279977" "04214" "00386174" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Best macular dystrophy" "" "0000280014" "04214" "00386211" "00000" "Familial, autosomal dominant" "37y" "" "" "30y" "" "" "" "" "" "" "adult-onset vitelliform macular dystrophy" "" "" "0000280058" "04214" "00386255" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000280067" "04214" "00386264" "00000" "Familial, autosomal recessive" "41y" "" "" "9y" "" "" "" "" "" "" "Best macular dystrophy" "Stargardt Disease" "" "0000280415" "04214" "00386615" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280420" "04214" "00386620" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280433" "04214" "00386633" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000282335" "04214" "00388794" "00000" "Isolated (sporadic)" "36y" "age at genetic diagnosis mentioned" "" "29y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000282985" "04214" "00389444" "00000" "Familial, autosomal recessive" "48y" "age at genetic diagnosis mentioned" "" "44y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "" "0000283204" "04214" "00389663" "00000" "Familial, autosomal recessive" "45y" "age at genetic diagnosis mentioned" "" "41y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "" "0000283396" "04214" "00389855" "00000" "Isolated (sporadic)" "54y" "age at genetic diagnosis mentioned" "" "47y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283424" "04214" "00389883" "00000" "Isolated (sporadic)" "66y" "age at genetic diagnosis mentioned" "" "62y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283426" "04214" "00389885" "00000" "Isolated (sporadic)" "42y" "age at genetic diagnosis mentioned" "" "38y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283759" "04214" "00390221" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283760" "04214" "00390222" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284265" "04214" "00390777" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000284798" "04214" "00391358" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa 49 (613756)" "Retinitis pigmentosa 49 (613756)" "" "0000285827" "04214" "00392580" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000286784" "04214" "00393578" "00000" "Isolated (sporadic)" "32y" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" "" "0000286866" "04214" "00393660" "00000" "Isolated (sporadic)" "8y" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" "" "0000286889" "04214" "00393683" "00000" "Isolated (sporadic)" "49y" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" "" "0000286898" "04214" "00393692" "00000" "Isolated (sporadic)" "42y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286940" "04214" "00393734" "00000" "Isolated (sporadic)" "54y" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" "" "0000286981" "04214" "00393775" "00000" "Isolated (sporadic)" "51y" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" "" "0000286987" "04214" "00393781" "00000" "Familial, autosomal recessive" "27y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287085" "04214" "00393879" "00000" "Isolated (sporadic)" "9y" "" "" "" "" "" "" "" "" "" "" "Leber Congenital Amaurosis (LCA)" "" "0000287752" "04214" "00394549" "00000" "Familial, autosomal recessive" "57y" "" "6y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287753" "04214" "00394550" "00000" "Familial, autosomal recessive" "45y" "" "7y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287754" "04214" "00394551" "00000" "Familial, autosomal recessive" "76y" "" "" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000287755" "04214" "00394552" "00000" "Familial, autosomal recessive" "66y" "" "26y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000289655" "04214" "00396494" "00000" "Familial, autosomal recessive" "57y" "night blindness" "43y" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000289660" "04214" "00396499" "00000" "Familial, autosomal recessive" "58y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000289707" "04214" "00396546" "00000" "Isolated (sporadic)" "66y" "night blindness" "12y-18y" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000289709" "04214" "00396548" "00000" "Familial, autosomal recessive" "66y" "decreased visual acuity" "<12y" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000289731" "04214" "00396570" "00000" "Isolated (sporadic)" "39y" "" "27y" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000289755" "04214" "00396594" "00000" "Isolated (sporadic)" "63y" "night blindness" "<12y" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000301324" "04214" "00409206" "00000" "Familial, autosomal recessive" "" "night blindness: 2-3y, visual field constriction: 24y, decreased visual acuity: 30y; ophthalmic examination at age 40: visual acuity right, left eye: 8/105/10, biomicroscopy: normal, visual field: peripheral constriction, fundus: pale disc, arteriolar constriction, paravascular bone spicule pigmentation, macula: right eye: normal, left eye: macular hole, electroretinogram: extinguished" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301325" "04214" "00409207" "00000" "Familial, autosomal recessive" "" "night blindness: 2-3y, visual field constriction: 25y, decreased visual acuity: 40y; ophthalmic examination at age 40: visual acuity right, left eye: 8/105/10, biomicroscopy: normal, visual field: loss of upper visual field, fundus: pale disc, arteriolar constriction, bone spicule pigmentation, macula: normal, electroretinogram: extinguished" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301326" "04214" "00409208" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301327" "04214" "00409209" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301328" "04214" "00409210" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301329" "04214" "00409211" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301330" "04214" "00409212" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301331" "04214" "00409213" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301332" "04214" "00409214" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301333" "04214" "00409215" "00000" "Familial, autosomal recessive" "50y" "night blindness: 2-3y, visual field constriction: 6-7y, decreased visual acuity: 40y; ophthalmic examination0: best corrected visual acuity right/left eye: 0.60.7, visual field: both eyes: 15 deg, fundus: pale disc, artery attenuation, perivascular bone spicule pigmentation, electroretinogram: extinguished" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301334" "04214" "00409216" "00000" "Familial, autosomal recessive" "42y" "night blindness: 2-3y, visual field constriction: 6-7y, decreased visual acuity: 40y; ophthalmic examination0: best corrected visual acuity right/left eye: 0.80.9, visual field: both eyes: 20 deg, fundus: pale disc, artery attenuation, perivascular bone spicule pigmentation, electroretinogram: extinguished" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301335" "04214" "00409217" "00000" "Familial, autosomal recessive" "" "night blindness: 5y, visual field constriction: 16y, decreased visual acuity: 20y; ophthalmic examination: best corrected visual acuity right, left eye: counting fingers/10, counting fingers/20, slit lamp: mild cataract, visual field: not detectable, fundus: paravascular bone spicule pigmentation, retinal pigment epithelium atrophy, pale disc, arteriolar constriction, optical coherence tomography: extensive ellipsoid band loss, retinal pigment epithelium thinning, fundus autofluorescence: extensive hypofluorescence in the posterior pole, electroretinogram: extinguished" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301336" "04214" "00409218" "00000" "Familial, autosomal recessive" "" "night blindness: 7y, visual field constriction: 24y, decreased visual acuity: 31y; ophthalmic examination: best corrected visual acuity right, left eye: 20/60, 20/80, slit lamp: normal, visual field: nasal and temporal defects, fundus: paravascular bone spicule pigmentation, retinal pigment epithelium atrophy, pale disc, arteriolar constriction, optical coherence tomography: peripheral ellipsoid band loss, peripheral retinal pigment epithelium thinning, fundus autofluorescence: hyperfluorescent ring in the macula, electroretinogram: extinguished" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000301338" "04214" "00409220" "00000" "Familial, autosomal recessive" "26y" "best corrected visual acuity: 20/20 both eyes; fundus: pale peripheral area with no obvious deposits at the posterior pole; visual field: central vision field residual both eyes; macular optical coherence tomography: normal; electroretinogram: extinguished responses with significant decline of a and b amplitudes" "26y" "" "night blindness and narrow vision field" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000306236" "00198" "00414401" "00000" "Familial, autosomal recessive" "27y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa 49" "" "" "0000318057" "04214" "00426919" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "Best Vitelliform Macular Dystrophy" "" "0000320468" "00112" "00429596" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320568" "00112" "00429696" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320583" "00112" "00429711" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320600" "00112" "00429728" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320948" "00112" "00430076" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320960" "00112" "00430088" "04436" "Paternal, Y-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320975" "00112" "00430103" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000326607" "00112" "00436428" "04552" "Familial, autosomal recessive" "15y" "Reduced visual acuity HP:0007663; Nyctalopia HP:0000662; Peripheral visual field loss HP:0007994; Retinitis pigmentosa HP:0000510" "15y" "35y" "15y" "" "" "" "" "" "RP49" "Retinitis pigmentosa" "" "0000336178" "00198" "00446979" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336179" "00198" "00446980" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336765" "00198" "00447566" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "eye diseaes" "" "0000336887" "00198" "00447688" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" "0000336893" "00198" "00447694" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336910" "00198" "00447711" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" ## Screenings ## Do not remove or alter this header ## ## Count = 182 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000001608" "00001805" "1" "00102" "00102" "2013-08-08 20:02:08" "" "" "SEQ-NG-I" "DNA" "" "" "0000096350" "00095947" "1" "01769" "01769" "2017-01-26 20:15:09" "" "" "SEQ" "DNA" "WBC" "" "0000144825" "00143966" "1" "01780" "00006" "2017-11-28 22:45:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000156284" "00155419" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000233679" "00232580" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233680" "00232581" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233681" "00232582" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233682" "00232583" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233683" "00232584" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233684" "00232585" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233685" "00232586" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233686" "00232587" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233687" "00232588" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233688" "00232589" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233689" "00232590" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233690" "00232591" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233691" "00232592" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233692" "00232593" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233693" "00232594" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233694" "00232595" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233695" "00232596" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233696" "00232597" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233697" "00232598" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233698" "00232599" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233699" "00232600" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233700" "00232601" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233701" "00232602" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233702" "00232603" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233703" "00232604" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233704" "00232605" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234775" "00233676" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234776" "00233677" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234777" "00233678" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000235421" "00234321" "1" "01807" "01807" "2019-05-07 14:50:30" "" "" "SEQ" "DNA" "" "" "0000294788" "00293620" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294789" "00293621" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309639" "00308494" "1" "00004" "00006" "2020-08-27 13:01:07" "" "" "SEQ" "DNA" "" "" "0000310201" "00309056" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310202" "00309057" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310203" "00309058" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310204" "00309059" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310205" "00309060" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310206" "00309061" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310207" "00309062" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310208" "00309063" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000329330" "00328115" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329546" "00328331" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000332496" "00331276" "1" "00000" "00006" "2021-02-11 10:36:53" "" "" "SEQ;SEQ-NG" "DNA" "" "39-gene panel" "0000332920" "00331701" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ-NG" "DNA" "" "" "0000332921" "00331702" "1" "00000" "00006" "2021-02-12 13:51:13" "" "" "SEQ-NG" "DNA" "" "" "0000333752" "00332528" "1" "00000" "00006" "2021-02-20 09:48:27" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000334577" "00333352" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000336629" "00335400" "1" "00000" "00006" "2021-03-05 16:19:42" "" "" "SEQ-NG" "DNA" "" "283-gene panel" "0000360391" "00359153" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360421" "00359183" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000363400" "00362171" "1" "00000" "00006" "2021-04-15 17:02:42" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364739" "00363511" "1" "00000" "00006" "2021-04-29 10:58:03" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364740" "00363512" "1" "00000" "00006" "2021-04-29 10:58:03" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373855" "00372623" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373888" "00372656" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373897" "00372665" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373903" "00372671" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373907" "00372675" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373920" "00372688" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373947" "00372715" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373978" "00372746" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000374647" "00373412" "1" "00000" "00006" "2021-05-14 15:17:31" "" "" "arraySNP;SEQ" "DNA" "" "" "0000374740" "00373505" "1" "00000" "00006" "2021-05-14 19:24:06" "" "" "SEQ-NG" "DNA" "" "316-gene panel" "0000375042" "00373810" "1" "00000" "00006" "2021-05-21 12:20:36" "" "" "arraySEQ" "DNA" "" "Reseq" "0000376095" "00374901" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376525" "00375328" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel" "0000376526" "00375329" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel" "0000376527" "00375330" "1" "00000" "00006" "2021-06-03 08:39:58" "" "" "SEQ-NG" "DNA" "" "193-gene panel" "0000376608" "00375411" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376622" "00375425" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376624" "00375427" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376631" "00375434" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000377383" "00376187" "1" "00000" "00008" "2021-06-19 02:19:40" "" "" "DHPLC" "DNA" "blood" "" "0000377721" "00376516" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "PCRm;SEQ" "DNA" "blood" "" "0000377981" "00376775" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000377988" "00376782" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000378423" "00377218" "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" "0000378704" "00377501" "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" "0000379019" "00377815" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PE" "DNA" "blood" "" "0000379040" "00377836" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PE" "DNA" "blood" "" "0000379041" "00377837" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PE" "DNA" "blood" "" "0000379042" "00377838" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "PE" "DNA" "blood" "" "0000380599" "00379399" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "arraySEQ;PCR;SEQ" "DNA" "blood" "" "0000380859" "00379659" "1" "03508" "03508" "2021-08-06 07:49:14" "" "" "SEQ-NG-I" "DNA" "" "" "0000381022" "00379820" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ-NG" "DNA" "" "panel of 441 hereditary eye disease genes including 291 genes related to IRD" "0000381411" "00380209" "1" "00000" "03840" "2021-08-11 10:47:34" "" "" "SEQ-NG" "DNA" "blood" "" "0000381412" "00380210" "1" "00000" "03840" "2021-08-11 10:47:34" "" "" "SEQ-NG" "DNA" "blood" "" "0000382229" "00381015" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "arraySEQ;SEQ;PCR" "DNA" "blood" "" "0000382837" "00381621" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382851" "00381635" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382929" "00381713" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR;SEQ-NG" "DNA" "blood or a saliva sample" "" "0000383097" "00381881" "1" "00000" "03840" "2021-09-06 14:05:57" "" "" "SEQ-NG" "DNA" "blood" "" "0000383733" "00382519" "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" "0000383734" "00382520" "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" "0000383735" "00382521" "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" "0000384971" "00383746" "1" "00000" "03840" "2021-09-29 12:39:39" "" "" "SEQ-NG" "DNA" "" "" "0000385030" "00383805" "1" "00000" "03840" "2021-09-29 12:39:39" "" "" "SEQ-NG" "DNA" "" "" "0000385191" "00383966" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "arraySNP" "DNA" "" "" "0000385237" "00384012" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000385238" "00384013" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "arraySNP" "DNA" "" "" "0000385282" "00384057" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "arraySNP" "DNA" "" "" "0000385294" "00384069" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "arraySNP" "DNA" "" "" "0000385320" "00384095" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000385322" "00384097" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000385330" "00384105" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000385965" "00384739" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySEQ;MLPA" "DNA" "" "" "0000385977" "00384751" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySEQ;MLPA" "DNA" "" "" "0000385978" "00384752" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySEQ;MLPA" "DNA" "" "" "0000385979" "00384753" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySEQ;MLPA" "DNA" "" "" "0000386932" "00385704" "1" "00000" "03840" "2021-10-14 15:38:02" "" "" "SEQ-NG" "DNA" "blood" "Panel 3 containing 78 genes" "0000386940" "00385712" "1" "00000" "03840" "2021-10-14 15:38:02" "" "" "SEQ-NG" "DNA" "blood" "Panel 4 containing 370 genes" "0000387403" "00386174" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387440" "00386211" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387484" "00386255" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387493" "00386264" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387843" "00386615" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387848" "00386620" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387861" "00386633" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000390037" "00388794" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390687" "00389444" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000390906" "00389663" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000391098" "00389855" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000391126" "00389883" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000391128" "00389885" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000391462" "00390221" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391463" "00390222" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000392018" "00390777" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "arraySEQ" "DNA" "Blood" "" "0000392600" "00391358" "1" "00000" "03840" "2021-11-15 18:02:17" "" "" "SEQ-NG" "DNA" "" "retrospective case note review, targeted gene panel testing" "0000393827" "00392580" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000394826" "00393578" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394908" "00393660" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394931" "00393683" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394940" "00393692" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000394982" "00393734" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395023" "00393775" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395029" "00393781" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395127" "00393879" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395796" "00394549" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395797" "00394550" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395798" "00394551" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000395799" "00394552" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000397737" "00396494" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000397742" "00396499" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000397789" "00396546" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000397791" "00396548" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000397813" "00396570" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000397837" "00396594" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000410471" "00409206" "1" "00000" "03840" "2022-05-05 13:07:17" "" "" "STR;SEQ;RFLP" "DNA" "blood" "" "0000410472" "00409207" "1" "00000" "03840" "2022-05-05 13:07:17" "" "" "STR;SEQ;RFLP" "DNA" "blood" "" "0000410473" "00409208" "1" "00000" "03840" "2022-05-05 13:20:01" "" "" "STR;SEQ;RFLP" "DNA" "" "" "0000410474" "00409209" "1" "00000" "03840" "2022-05-05 13:20:01" "" "" "STR;SEQ;RFLP" "DNA" "" "" "0000410475" "00409210" "1" "00000" "03840" "2022-05-05 13:20:01" "" "" "STR;SEQ;RFLP" "DNA" "" "" "0000410476" "00409211" "1" "00000" "03840" "2022-05-05 13:20:01" "" "" "STR;SEQ;RFLP" "DNA" "" "" "0000410477" "00409212" "1" "00000" "03840" "2022-05-05 13:20:01" "" "" "STR;SEQ;RFLP" "DNA" "" "" "0000410478" "00409213" "1" "00000" "03840" "2022-05-05 13:20:01" "" "" "STR;SEQ;RFLP" "DNA" "" "" "0000410479" "00409214" "1" "00000" "03840" "2022-05-05 13:20:01" "" "" "STR;SEQ;RFLP" "DNA" "" "" "0000410480" "00409215" "1" "00000" "03840" "2022-05-05 13:43:27" "00006" "2022-05-06 09:25:18" "SEQ;SEQ-NG" "DNA" "" "" "0000410481" "00409216" "1" "00000" "03840" "2022-05-05 13:43:27" "03840" "2022-05-05 13:47:24" "SEQ;SEQ-NG" "DNA" "" "" "0000410482" "00409217" "1" "00000" "03840" "2022-05-05 14:21:41" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000410483" "00409218" "1" "00000" "03840" "2022-05-05 14:21:41" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000410485" "00409220" "1" "00000" "03840" "2022-05-05 14:37:49" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415681" "00414401" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000428239" "00426919" "1" "00000" "03840" "2022-12-03 18:53:15" "" "" "SEQ-NG;SEQ" "DNA" "saliva" "panel-based next generation sequencing" "0000431009" "00429596" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431109" "00429696" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431124" "00429711" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431141" "00429728" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431489" "00430076" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431501" "00430088" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431516" "00430103" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000437912" "00436428" "1" "04552" "04552" "2023-09-15 18:57:24" "" "" "SEQ-NG-I" "DNA" "BUCCAL SWAB" "" "0000448556" "00446979" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448557" "00446980" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449143" "00447566" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449265" "00447688" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449271" "00447694" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449288" "00447711" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 154 "{{screeningid}}" "{{geneid}}" "0000096350" "CNGA1" "0000144825" "EYS" "0000156284" "CNGA1" "0000233679" "CNGA1" "0000233680" "CNGA1" "0000233681" "CNGA1" "0000233682" "CNGA1" "0000233683" "CNGA1" "0000233684" "CNGA1" "0000233685" "CNGA1" "0000233686" "CNGA1" "0000233687" "CNGA1" "0000233688" "CNGA1" "0000233689" "CNGA1" "0000233690" "CNGA1" "0000233691" "CNGA1" "0000233692" "CNGA1" "0000233693" "CNGA1" "0000233694" "CNGA1" "0000233695" "CNGA1" "0000233696" "CNGA1" "0000233697" "CNGA1" "0000233698" "CNGA1" "0000233699" "CNGA1" "0000233700" "CNGA1" "0000233701" "CNGA1" "0000233702" "CNGA1" "0000233703" "CNGA1" "0000233704" "CNGA1" "0000234775" "CNGA1" "0000234776" "CNGA1" "0000234777" "CNGA1" "0000309639" "CNGA1" "0000310201" "CNGA1" "0000310202" "CNGA1" "0000310203" "CNGA1" "0000310204" "CNGA1" "0000310205" "CNGA1" "0000310206" "CNGA1" "0000310207" "CNGA1" "0000310208" "CNGA1" "0000329330" "CNGA1" "0000329546" "CNGA1" "0000332496" "CNGA1" "0000332920" "CNGA1" "0000332921" "CNGA1" "0000333752" "CNGA1" "0000334577" "CRB1" "0000336629" "CNGA1" "0000363400" "CNGA1" "0000364739" "CNGA1" "0000364740" "CNGA1" "0000374647" "CNGA1" "0000374740" "CNGA1" "0000375042" "CNGA1" "0000376525" "CNGA1" "0000376526" "CNGA1" "0000376527" "CNGA1" "0000377383" "CNGA1" "0000377721" "CNGA1" "0000378423" "CNGA1" "0000378704" "CNGA1" "0000379019" "CNGA1" "0000379040" "CNGA1" "0000379041" "CNGA1" "0000379042" "CNGA1" "0000380599" "ABCA4" "0000381022" "CNGA1" "0000381411" "CNGA1" "0000381412" "CNGA1" "0000382229" "CNGA1" "0000382837" "CNGA1" "0000382851" "CNGA1" "0000382929" "CNGA1" "0000383097" "CNGA1" "0000383733" "CNGA1" "0000383734" "CNGA1" "0000383735" "CNGA1" "0000384971" "CNGA1" "0000385030" "CNGA1" "0000385191" "CNGA1" "0000385237" "CNGA1" "0000385238" "CNGA1" "0000385282" "CNGA1" "0000385294" "CNGA1" "0000385320" "USH2A" "0000385322" "CNGA1" "0000385330" "CNGA1" "0000385965" "CNGA1" "0000385977" "CNGA1" "0000385978" "CNGA1" "0000385979" "CNGA1" "0000386932" "CNGA1" "0000386940" "CNGA1" "0000387403" "AIPL1" "0000387440" "PRPH2" "0000387484" "ABCA4" "0000387493" "BEST1" "0000387843" "CNGA1" "0000387848" "CNGA1" "0000387861" "CNGA1" "0000390037" "CNGA1" "0000390687" "CNGA1" "0000390906" "CNGA1" "0000391098" "CNGA1" "0000391126" "CNGA1" "0000391128" "CNGA1" "0000391462" "CNGA1" "0000391463" "CNGA1" "0000392018" "CNGA1" "0000392600" "CNGA1" "0000393827" "CNGA1" "0000394826" "CNGA1" "0000394908" "CNGA1" "0000394931" "CNGA1" "0000394940" "CNGA1" "0000394982" "CNGA1" "0000395023" "CNGA1" "0000395029" "CNGA1" "0000395127" "CNGA1" "0000395796" "CNGA1" "0000395797" "CNGA1" "0000395798" "CNGA1" "0000395799" "CNGA1" "0000397737" "EYS" "0000397742" "EYS" "0000397789" "EYS" "0000397791" "USH2A" "0000397813" "EYS" "0000397837" "EYS" "0000410471" "CNGA1" "0000410472" "CNGA1" "0000410473" "CNGA1" "0000410474" "CNGA1" "0000410475" "CNGA1" "0000410476" "CNGA1" "0000410477" "CNGA1" "0000410478" "CNGA1" "0000410479" "CNGA1" "0000410480" "CNGA1" "0000410481" "CNGA1" "0000410482" "CNGA1" "0000410483" "CNGA1" "0000410485" "CNGA1" "0000415681" "CNGA1" "0000428239" "NYX" "0000431009" "CNGA1" "0000431109" "CNGA1" "0000431124" "CNGA1" "0000431141" "CNGA1" "0000431489" "CNGA1" "0000431501" "CNGA1" "0000431516" "CNGA1" "0000437912" "CNGA1" ## 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 = 282 "{{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}}" "0000019511" "0" "55" "4" "47938626" "47938626" "subst" "6.50623E-5" "00102" "CNGA1_000001" "g.47938626G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47936609G>A" "" "VUS" "" "0000019512" "0" "55" "4" "47954602" "47954602" "subst" "4.06981E-6" "00102" "CNGA1_000002" "g.47954602G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.47952585G>T" "" "VUS" "" "0000158343" "3" "90" "4" "47942818" "47942819" "del" "0" "01769" "CNGA1_000003" "g.47942818_47942819del" "" "{PMID:Li 2017:28418496}" "" "626_627delTA" "" "Germline" "yes" "" "0" "" "" "g.47940801_47940802del" "" "pathogenic" "" "0000246249" "0" "10" "4" "47944120" "47944120" "subst" "0.000950431" "02330" "CNGA1_000023" "g.47944120A>G" "" "" "" "CNGA1(NM_001142564.2):c.483T>C (p.Y161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47942103A>G" "" "benign" "" "0000246263" "0" "10" "4" "47944047" "47944047" "subst" "0.00207785" "02330" "CNGA1_000021" "g.47944047A>G" "" "" "" "CNGA1(NM_001142564.2):c.545+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47942030A>G" "" "benign" "" "0000246264" "0" "10" "4" "47973131" "47973131" "del" "0" "02330" "CNGA1_000014" "g.47973131del" "" "" "" "CNGA1(NM_001142564.2):c.-219-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47971114del" "" "benign" "" "0000249051" "0" "10" "4" "47944047" "47944047" "del" "0" "02325" "CNGA1_000022" "g.47944047del" "" "" "" "CNGA1(NM_001142564.2):c.545+28delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47942030del" "" "benign" "" "0000264671" "0" "10" "4" "47939404" "47939404" "subst" "4.4999E-5" "02330" "CNGA1_000008" "g.47939404G>A" "" "" "" "CNGA1(NM_001142564.2):c.1095C>T (p.P365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47937387G>A" "" "benign" "" "0000264672" "0" "10" "4" "47939092" "47939092" "subst" "0.000350271" "02330" "CNGA1_000007" "g.47939092T>C" "" "" "" "CNGA1(NM_001142564.1):c.1626A>G (p.T542=), CNGA1(NM_001142564.2):c.1407A>G (p.T469=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47937075T>C" "" "benign" "" "0000264673" "0" "10" "4" "47938712" "47938712" "subst" "4.47606E-5" "02330" "CNGA1_000006" "g.47938712T>C" "" "" "" "CNGA1(NM_001142564.2):c.1787A>G (p.K596R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47936695T>C" "" "benign" "" "0000264674" "0" "50" "4" "47938560" "47938560" "subst" "0.000333398" "02330" "CNGA1_000005" "g.47938560T>C" "" "" "" "CNGA1(NM_001142564.1):c.2158A>G (p.M720V), CNGA1(NM_001142564.2):c.1939A>G (p.M647V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47936543T>C" "" "VUS" "" "0000264675" "0" "10" "4" "47938450" "47938450" "subst" "1.62912E-5" "02330" "CNGA1_000004" "g.47938450G>A" "" "" "" "CNGA1(NM_001142564.2):c.2049C>T (p.I683=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47936433G>A" "" "benign" "" "0000264676" "0" "10" "4" "47953415" "47953415" "subst" "4.0623E-6" "02330" "CNGA1_000025" "g.47953415C>T" "" "" "" "CNGA1(NM_001142564.2):c.179G>A (p.G60D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47951398C>T" "" "benign" "" "0000273639" "0" "70" "4" "47939552" "47939552" "subst" "0.00106971" "01943" "CNGA1_000011" "g.47939552G>A" "" "" "" "CNGA1(NM_000087.5):c.947C>T (p.S316F), CNGA1(NM_001142564.1):c.1166C>T (p.S389F), CNGA1(NM_001142564.2):c.947C>T (p.S316F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47937535G>A" "" "likely pathogenic" "" "0000273640" "0" "30" "4" "47939480" "47939480" "subst" "0.0020883" "01943" "CNGA1_000010" "g.47939480C>T" "" "" "" "CNGA1(NM_001142564.1):c.1238G>A (p.R413H), CNGA1(NM_001142564.2):c.1019G>A (p.R340H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47937463C>T" "" "likely benign" "" "0000273641" "0" "50" "4" "47939468" "47939468" "subst" "0.000518253" "01943" "CNGA1_000009" "g.47939468T>C" "" "" "" "CNGA1(NM_001142564.1):c.1250A>G (p.K417R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47937451T>C" "" "VUS" "" "0000273642" "0" "30" "4" "47945275" "47945275" "subst" "0.000838346" "01943" "CNGA1_000024" "g.47945275G>A" "" "" "" "CNGA1(NM_001142564.1):c.579C>T (p.N193=), CNGA1(NM_001142564.2):c.360C>T (p.N120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47943258G>A" "" "likely benign" "" "0000273643" "0" "50" "4" "47944132" "47944132" "subst" "1.21858E-5" "01943" "CNGA1_000013" "g.47944132C>T" "" "" "" "CNGA1(NM_001142564.1):c.690G>A (p.S230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47942115C>T" "" "VUS" "" "0000338243" "0" "10" "4" "48012817" "48012817" "subst" "0" "02327" "CNGA1_000019" "g.48012817G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48010800G>A" "" "benign" "" "0000340163" "0" "10" "4" "48014977" "48014977" "subst" "0" "02327" "CNGA1_000020" "g.48014977A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48012960A>C" "" "benign" "" "0000343038" "0" "90" "4" "47938971" "47938971" "subst" "4.88297E-5" "02327" "CNGA1_000015" "g.47938971G>A" "" "" "" "CNGA1(NM_001142564.2):c.1528C>T (p.R510*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47936954G>A" "" "pathogenic" "" "0000343084" "0" "50" "4" "47939078" "47939078" "subst" "2.03616E-5" "02327" "CNGA1_000016" "g.47939078C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47937061C>T" "" "VUS" "" "0000347008" "0" "90" "4" "47939825" "47939825" "del" "0" "02327" "CNGA1_000018" "g.47939825del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47937808del" "" "pathogenic" "" "0000348936" "0" "70" "4" "47939552" "47939552" "subst" "0.00106971" "02327" "CNGA1_000011" "g.47939552G>A" "" "" "" "CNGA1(NM_000087.5):c.947C>T (p.S316F), CNGA1(NM_001142564.1):c.1166C>T (p.S389F), CNGA1(NM_001142564.2):c.947C>T (p.S316F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47937535G>A" "" "likely pathogenic" "" "0000358206" "11" "90" "4" "47938971" "47938971" "subst" "4.88297E-5" "01243" "CNGA1_000015" "g.47938971G>A" "" "{PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "g.47936954G>A" "" "pathogenic (recessive)" "" "0000358419" "21" "90" "4" "47954625" "47954625" "subst" "7.73842E-5" "01243" "CNGA1_000026" "g.47954625G>A" "" "{PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "g.47952608G>A" "" "pathogenic (recessive)" "" "0000476387" "0" "50" "4" "47938469" "47938469" "subst" "2.44168E-5" "02591" "CNGA1_000027" "g.47938469C>G" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs759258126" "0" "" "" "g.47936452C>G" "" "VUS" "" "0000476388" "0" "50" "4" "47938826" "47938826" "subst" "9.75649E-5" "02591" "CNGA1_000028" "g.47938826G>A" "5/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs151223668" "0" "" "" "g.47936809G>A" "" "VUS" "" "0000476389" "0" "50" "4" "47939063" "47939063" "subst" "0" "02591" "CNGA1_000029" "g.47939063C>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.47937046C>G" "" "VUS" "" "0000476390" "0" "90" "4" "47939081" "47939081" "del" "0" "02591" "CNGA1_000030" "g.47939081del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.47937064del" "" "pathogenic" "" "0000476391" "0" "50" "4" "47939121" "47939121" "del" "0" "02591" "CNGA1_000031" "g.47939121del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.47937104del" "" "VUS" "" "0000476392" "0" "50" "4" "47939240" "47939240" "subst" "0.00098044" "02591" "CNGA1_000032" "g.47939240C>T" "12/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs192912733" "0" "" "" "g.47937223C>T" "" "VUS" "" "0000476393" "0" "90" "4" "47939241" "47939241" "subst" "8.13643E-6" "02591" "CNGA1_000033" "g.47939241G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs369717052" "0" "" "" "g.47937224G>A" "" "pathogenic" "" "0000476394" "0" "50" "4" "47939324" "47939324" "subst" "4.07425E-6" "02591" "CNGA1_000034" "g.47939324A>G" "4/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.47937307A>G" "" "VUS" "" "0000476395" "0" "50" "4" "47939393" "47939393" "subst" "0" "02591" "CNGA1_000035" "g.47939393G>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.47937376G>T" "" "VUS" "" "0000476396" "0" "90" "4" "47939522" "47939522" "subst" "4.06994E-6" "02591" "CNGA1_000036" "g.47939522T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs527236059" "0" "" "" "g.47937505T>C" "" "pathogenic" "" "0000476397" "0" "50" "4" "47939651" "47939651" "subst" "4.06683E-6" "02591" "CNGA1_000037" "g.47939651C>T" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs577505007" "0" "" "" "g.47937634C>T" "" "VUS" "" "0000476398" "0" "90" "4" "47939672" "47939672" "subst" "3.25486E-5" "02591" "CNGA1_000038" "g.47939672C>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs375412499" "0" "" "" "g.47937655C>T" "" "pathogenic" "" "0000476399" "0" "50" "4" "47939805" "47939805" "subst" "0" "02591" "CNGA1_000039" "g.47939805G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.47937788G>A" "" "VUS" "" "0000476400" "0" "50" "4" "47939846" "47939846" "subst" "0" "02591" "CNGA1_000040" "g.47939846C>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.47937829C>A" "" "VUS" "" "0000476401" "0" "50" "4" "47942791" "47942791" "subst" "2.44533E-5" "02591" "CNGA1_000041" "g.47942791C>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs776929323" "0" "" "" "g.47940774C>T" "" "VUS" "" "0000476402" "0" "90" "4" "47942792" "47942792" "subst" "6.11222E-5" "02591" "CNGA1_000042" "g.47942792G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs759781200" "0" "" "" "g.47940775G>A" "" "pathogenic" "" "0000476403" "0" "50" "4" "47944133" "47944133" "subst" "1.21856E-5" "02591" "CNGA1_000043" "g.47944133G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs769046389" "0" "" "" "g.47942116G>A" "" "VUS" "" "0000476404" "0" "50" "4" "47944155" "47944155" "subst" "0" "02591" "CNGA1_000044" "g.47944155C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.47942138C>T" "" "VUS" "" "0000476405" "0" "10" "4" "47945295" "47945295" "subst" "0.160567" "02591" "CNGA1_000045" "g.47945295C>T" "562/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs28642966" "0" "" "" "g.47943278C>T" "" "benign" "" "0000476406" "0" "50" "4" "47945432" "47945432" "subst" "0" "02591" "CNGA1_000046" "g.47945432A>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.47943415A>G" "" "VUS" "" "0000476407" "0" "90" "4" "47951883" "47951883" "del" "0" "02591" "CNGA1_000047" "g.47951883del" "5/1196 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs749012133" "0" "" "" "g.47949866del" "" "pathogenic" "" "0000476408" "0" "50" "4" "47953414" "47953414" "del" "0" "02591" "CNGA1_000048" "g.47953414del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs527236058" "0" "" "" "g.47951397del" "" "VUS" "" "0000476409" "0" "50" "4" "47954624" "47954624" "subst" "0.0122689" "02591" "CNGA1_000049" "g.47954624C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs76537883" "0" "" "" "g.47952607C>T" "" "VUS" "" "0000476410" "0" "90" "4" "47954625" "47954625" "subst" "7.73842E-5" "02591" "CNGA1_000026" "g.47954625G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs199636364" "0" "" "" "g.47952608G>A" "" "pathogenic" "" "0000476411" "0" "50" "4" "47954678" "47954678" "subst" "0" "02591" "CNGA1_000050" "g.47954678T>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.47952661T>A" "" "VUS" "" "0000476412" "0" "50" "4" "47972954" "47972954" "subst" "0" "02591" "CNGA1_000051" "g.47972954C>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.47970937C>T" "" "VUS" "" "0000477483" "3" "50" "4" "47939121" "47939121" "del" "0" "02591" "CNGA1_000031" "g.47939121del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.47937104del" "" "VUS" "" "0000477484" "3" "10" "4" "47945295" "47945295" "subst" "0.160567" "02591" "CNGA1_000045" "g.47945295C>T" "181/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs28642966" "0" "" "" "g.47943278C>T" "" "benign" "" "0000477485" "3" "90" "4" "47951883" "47951883" "del" "0" "02591" "CNGA1_000047" "g.47951883del" "3/1196 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "rs749012133" "0" "" "" "" "" "pathogenic" "" "0000478175" "3" "90" "4" "47931965" "47946798" "del" "0" "01807" "CNGA1_000052" "g.47931965_47946798del" "" "" "" "300-1369_*444+6029del" "" "Unknown" "" "" "0" "" "" "g.47929948_47944781del" "" "pathogenic" "" "0000522611" "0" "50" "4" "47938537" "47938537" "subst" "0" "02330" "CNGA1_000053" "g.47938537T>C" "" "" "" "CNGA1(NM_001142564.2):c.1962A>G (p.R654=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47936520T>C" "" "VUS" "" "0000522612" "0" "90" "4" "47938626" "47938626" "subst" "6.50623E-5" "02330" "CNGA1_000001" "g.47938626G>A" "" "" "" "CNGA1(NM_001142564.2):c.1873C>T (p.R625*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47936609G>A" "" "pathogenic" "" "0000522613" "0" "50" "4" "47938958" "47938958" "subst" "0" "02327" "CNGA1_000054" "g.47938958A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47936941A>C" "" "VUS" "" "0000522614" "0" "90" "4" "47939112" "47939112" "del" "0" "02327" "CNGA1_000055" "g.47939112del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47937095del" "" "pathogenic" "" "0000522615" "0" "50" "4" "47939190" "47939190" "subst" "1.2204E-5" "02330" "CNGA1_000056" "g.47939190G>C" "" "" "" "CNGA1(NM_001142564.2):c.1309C>G (p.L437V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47937173G>C" "" "VUS" "" "0000522616" "0" "70" "4" "47939552" "47939552" "subst" "0.00106971" "02330" "CNGA1_000011" "g.47939552G>A" "" "" "" "CNGA1(NM_000087.5):c.947C>T (p.S316F), CNGA1(NM_001142564.1):c.1166C>T (p.S389F), CNGA1(NM_001142564.2):c.947C>T (p.S316F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47937535G>A" "" "likely pathogenic" "" "0000522617" "0" "90" "4" "47939808" "47939808" "dup" "0" "01943" "CNGA1_000017" "g.47939808dup" "" "" "" "CNGA1(NM_001142564.1):c.912dupA (p.L305Tfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47937791dup" "" "pathogenic" "" "0000522618" "0" "50" "4" "47953415" "47953415" "subst" "0.000320922" "02330" "CNGA1_000057" "g.47953415C>A" "" "" "" "CNGA1(NM_001142564.1):c.398G>T (p.G133V), CNGA1(NM_001142564.2):c.179G>T (p.G60V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47951398C>A" "" "VUS" "" "0000522619" "0" "30" "4" "47953415" "47953415" "subst" "0.000320922" "01943" "CNGA1_000057" "g.47953415C>A" "" "" "" "CNGA1(NM_001142564.1):c.398G>T (p.G133V), CNGA1(NM_001142564.2):c.179G>T (p.G60V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47951398C>A" "" "likely benign" "" "0000522620" "0" "70" "4" "47954625" "47954625" "subst" "7.73842E-5" "02330" "CNGA1_000026" "g.47954625G>A" "" "" "" "CNGA1(NM_000087.3):c.94C>T (p.(Arg32Ter)), CNGA1(NM_001142564.2):c.82C>T (p.R28*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47952608G>A" "" "likely pathogenic" "" "0000522621" "0" "50" "4" "47973078" "47973078" "subst" "0.000228822" "02330" "CNGA1_000058" "g.47973078C>T" "" "" "" "CNGA1(NM_001142564.1):c.40G>A (p.A14T), CNGA1(NM_001142564.2):c.-180G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47971061C>T" "" "VUS" "" "0000522622" "0" "30" "4" "47973101" "47973101" "subst" "0.000506148" "01943" "CNGA1_000059" "g.47973101G>A" "" "" "" "CNGA1(NM_001142564.1):c.17C>T (p.S6L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47971084G>A" "" "likely benign" "" "0000522623" "0" "10" "4" "47973110" "47973110" "subst" "0.565872" "02327" "CNGA1_000060" "g.47973110G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47971093G>A" "" "benign" "" "0000522624" "0" "30" "4" "47973131" "47973131" "subst" "0.00163832" "02330" "CNGA1_000061" "g.47973131A>T" "" "" "" "CNGA1(NM_001142564.2):c.-219-14T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47971114A>T" "" "likely benign" "" "0000522625" "0" "10" "4" "47973131" "47973131" "dup" "0" "02330" "CNGA1_000062" "g.47973131dup" "" "" "" "CNGA1(NM_001142564.2):c.-219-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47971114dup" "" "benign" "" "0000609215" "0" "30" "4" "47945275" "47945275" "subst" "0.000838346" "02330" "CNGA1_000024" "g.47945275G>A" "" "" "" "CNGA1(NM_001142564.1):c.579C>T (p.N193=), CNGA1(NM_001142564.2):c.360C>T (p.N120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47943258G>A" "" "likely benign" "" "0000609216" "0" "90" "4" "47951884" "47951884" "del" "0.000101684" "01943" "CNGA1_000047" "g.47951884del" "" "" "" "CNGA1(NM_001142564.1):c.472delC (p.L158Ffs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47949867del" "" "pathogenic" "" "0000651477" "1" "50" "4" "47939240" "47939240" "subst" "0.00098044" "03575" "CNGA1_000032" "g.47939240C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs192912733}" "Germline" "" "rs192912733" "0" "" "" "g.47937223C>T" "" "VUS" "" "0000651478" "1" "50" "4" "47954624" "47954624" "subst" "0.0122689" "03575" "CNGA1_000049" "g.47954624C>T" "28/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "28 heterozygous, no homozygous; {DB:CLININrs76537883}" "Germline" "" "rs76537883" "0" "" "" "g.47952607C>T" "" "VUS" "" "0000655148" "0" "30" "4" "47945287" "47945287" "subst" "0" "02330" "CNGA1_000063" "g.47945287G>A" "" "" "" "CNGA1(NM_001142564.2):c.348C>T (p.N116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47943270G>A" "" "likely benign" "" "0000655149" "0" "90" "4" "47954625" "47954625" "subst" "7.73842E-5" "01804" "CNGA1_000026" "g.47954625G>A" "" "" "" "CNGA1(NM_000087.3):c.94C>T (p.(Arg32Ter)), CNGA1(NM_001142564.2):c.82C>T (p.R28*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47952608G>A" "" "pathogenic" "" "0000677279" "0" "30" "4" "47939092" "47939092" "subst" "0.000350271" "01943" "CNGA1_000007" "g.47939092T>C" "" "" "" "CNGA1(NM_001142564.1):c.1626A>G (p.T542=), CNGA1(NM_001142564.2):c.1407A>G (p.T469=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677280" "0" "50" "4" "47939672" "47939672" "subst" "0" "02327" "CNGA1_000064" "g.47939672C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677281" "0" "50" "4" "47944084" "47944084" "subst" "0" "01943" "CNGA1_000065" "g.47944084C>T" "" "" "" "CNGA1(NM_001142564.1):c.738G>A (p.M246I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677282" "0" "90" "4" "47945286" "47945286" "subst" "0" "01943" "CNGA1_000066" "g.47945286C>A" "" "" "" "CNGA1(NM_001142564.1):c.568G>T (p.E190*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000684512" "1" "70" "4" "47939552" "47939552" "subst" "0.00106971" "00004" "CNGA1_000011" "g.47939552G>A" "2/899 cases" "{PMID:Holtan 2020:31429209}" "" "" "" "Germline" "" "" "0" "" "" "g.47937535G>A" "" "likely pathogenic" "" "0000685112" "0" "70" "4" "47938880" "47938880" "subst" "0" "00004" "CNGA1_000067" "g.47938880A>C" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000685113" "0" "90" "4" "47938971" "47938971" "subst" "4.88297E-5" "00004" "CNGA1_000015" "g.47938971G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685114" "0" "70" "4" "47939455" "47939455" "subst" "0" "00004" "CNGA1_000068" "g.47939455G>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000685115" "0" "70" "4" "47939552" "47939552" "subst" "0.00106971" "00004" "CNGA1_000011" "g.47939552G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000685116" "0" "90" "4" "47942792" "47942792" "subst" "6.11222E-5" "00004" "CNGA1_000042" "g.47942792G>A" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685117" "0" "70" "4" "47944100" "47944100" "subst" "1.21872E-5" "00004" "CNGA1_000069" "g.47944100A>C" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000685118" "0" "90" "4" "47945412" "47945412" "del" "0" "00004" "CNGA1_000070" "g.47945412del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.524del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685119" "0" "90" "4" "47954625" "47954625" "subst" "7.73842E-5" "00004" "CNGA1_000026" "g.47954625G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000689304" "0" "30" "4" "47954680" "47954680" "subst" "8.17568E-6" "01943" "CNGA1_000071" "g.47954680C>T" "" "" "" "CNGA1(NM_001142564.1):c.246G>A (p.Q82=), CNGA1(NM_001142564.2):c.27G>A (p.Q9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000689305" "0" "50" "4" "47973078" "47973078" "subst" "0.000228822" "01943" "CNGA1_000058" "g.47973078C>T" "" "" "" "CNGA1(NM_001142564.1):c.40G>A (p.A14T), CNGA1(NM_001142564.2):c.-180G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000713453" "0" "90" "4" "47938833" "47938833" "subst" "8.13048E-6" "00000" "CNGA1_000072" "g.47938833G>A" "" "{PMID:Carss 2017:28041643}" "" "4:47938833G>A ENST00000402813.3:c.1885C>T (Arg629Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713669" "3" "90" "4" "47938833" "47938833" "subst" "8.13048E-6" "00000" "CNGA1_000072" "g.47938833G>A" "" "{PMID:Carss 2017:28041643}" "" "4:47938833G>A ENST00000402813.3:c.1885C>T (Arg629Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713783" "0" "90" "4" "47938971" "47938971" "subst" "4.88297E-5" "00000" "CNGA1_000015" "g.47938971G>A" "" "{PMID:Carss 2017:28041643}" "" "4:47938971G>A ENST00000402813.3:c.1747C>T (Arg583Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000719919" "0" "30" "4" "47973100" "47973100" "subst" "3.30972E-5" "01943" "CNGA1_000074" "g.47973100C>T" "" "" "" "CNGA1(NM_001142564.1):c.18G>A (p.S6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729751" "1" "70" "4" "47939672" "47939672" "subst" "3.25486E-5" "00000" "CNGA1_000038" "g.47939672C>T" "" "{PMID:Maeda 2018:29785639}" "" "NM_000087.3:c.839G>A" "" "Germline" "" "rs375412499" "0" "" "" "g.47937655C>T" "" "likely pathogenic" "" "0000729786" "2" "90" "4" "47942792" "47942792" "subst" "6.11222E-5" "00000" "CNGA1_000042" "g.47942792G>A" "" "{PMID:Maeda 2018:29785639}" "" "NM_000087.3:c.652C>T" "" "Germline" "" "rs759781200" "0" "" "" "g.47940775G>A" "" "pathogenic" "" "0000730208" "3" "90" "4" "47954661" "47954661" "del" "0" "00000" "CNGA1_000073" "g.47954661del" "" "{PMID:Sun 2018:29625443}" "" "c.265delC" "" "Germline" "" "" "0" "" "" "g.47952644del" "" "pathogenic" "ACMG" "0000730209" "3" "90" "4" "47954661" "47954661" "del" "0" "00000" "CNGA1_000073" "g.47954661del" "" "{PMID:Sun 2018:29625443}" "" "c.265delC" "" "Germline" "" "" "0" "" "" "g.47952644del" "" "pathogenic" "ACMG" "0000731542" "1" "90" "4" "47938755" "47938758" "del" "0" "00000" "CNGA1_000075" "g.47938755_47938758del" "" "{PMID:Comander 2017:28981474}" "" "NM_000087.3:c.1755_1758delAACT" "" "Germline" "" "" "0" "" "" "g.47936738_47936741del" "" "pathogenic" "" "0000731567" "2" "90" "4" "47939552" "47939552" "subst" "0.00106971" "00000" "CNGA1_000011" "g.47939552G>A" "" "{PMID:Comander 2017:28981474}" "" "NM_000087.3:c.959C>T" "" "Germline" "" "" "0" "" "" "g.47937535G>A" "" "pathogenic" "" "0000732448" "0" "50" "4" "47939403" "47939403" "subst" "1.63605E-5" "00000" "CNGA1_000076" "g.47939403C>T" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.47937386C>T" "" "VUS" "" "0000736074" "3" "70" "4" "47951884" "47951884" "del" "0.000101684" "00000" "CNGA1_000047" "g.47951884del" "" "{PMID:Huang 2018:29641573}" "" "c.472_472delC" "" "Germline" "" "" "0" "" "" "g.47949867del" "" "likely pathogenic" "" "0000760283" "3" "50" "4" "47938971" "47938971" "subst" "4.88297E-5" "00000" "CNGA1_000015" "g.47938971G>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.47936954G>A" "" "VUS" "" "0000760313" "0" "50" "4" "47942803" "47942803" "subst" "8.14498E-6" "00000" "CNGA1_000078" "g.47942803T>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.47940786T>A" "" "VUS" "" "0000760492" "0" "50" "4" "47938964" "47938964" "subst" "1.62743E-5" "00000" "CNGA1_000077" "g.47938964A>C" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.47936947A>C" "" "VUS" "" "0000764038" "1" "70" "4" "47954625" "47954625" "subst" "7.73842E-5" "00000" "CNGA1_000026" "g.47954625G>A" "" "{PMID:Perez-Carro 2016:26806561}" "" "NM_000087.3:c.94C>T" "" "Germline" "yes" "" "0" "" "" "g.47952608G>A" "" "likely pathogenic" "" "0000764064" "2" "70" "4" "47939681" "47939681" "subst" "8.13696E-6" "00000" "CNGA1_000079" "g.47939681C>T" "" "{PMID:Perez-Carro 2016:26806561}" "" "NM_000087.3:c.830G>A" "" "Germline" "yes" "" "0" "" "" "g.47937664C>T" "" "likely pathogenic" "" "0000765643" "3" "70" "4" "47939241" "47939241" "subst" "8.13643E-6" "00000" "CNGA1_000033" "g.47939241G>A" "" "{PMID:Yang 2015:26496393}" "" "" "not in 100 controls" "Germline" "" "" "0" "" "" "g.47937224G>A" "" "likely pathogenic (recessive)" "" "0000765644" "3" "70" "4" "47951884" "47951884" "del" "0.000101684" "00000" "CNGA1_000047" "g.47951884del" "" "{PMID:Yang 2015:26496393}" "" "472delC" "not in 100 controls" "Germline" "" "" "0" "" "" "g.47949867del" "" "likely pathogenic (recessive)" "" "0000784148" "0" "50" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "4/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "NM_000087.3:c.1018C>A (P340T)" "" "Germline" "" "rs192912733" "0" "" "" "" "" "VUS" "" "0000784291" "0" "50" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "4/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "c.1271G>A (R424Q)" "" "Germline" "" "rs192912733" "0" "" "" "" "" "VUS" "" "0000784361" "0" "70" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "NM_000087.3:c.265delC (L89Ffs*4)" "" "Germline" "" "rs150374036" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000784392" "0" "70" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "NM_000087.3:c.844T>A (F282I)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000784393" "0" "70" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "NM_000087.3:c.1951A>C (M651L)" "" "Germline" "" "rs138053512" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000784429" "0" "50" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "NM_000087.3:c.1271G>A (R424Q)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000784470" "0" "50" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "NM_000087.3:c.1271G>A (R424Q)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000784502" "0" "50" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "4/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "NM_000087.3:c.1271G>A (R424Q)" "" "Germline" "" "rs192912733" "0" "" "" "" "" "VUS" "" "0000784518" "0" "50" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "4/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "NM_000087.3:c.1271G>A (R424Q)" "" "Germline" "" "rs192912733" "0" "" "" "" "" "VUS" "" "0000785460" "3" "90" "4" "47939420" "47939420" "subst" "0" "00000" "CNGA1_000080" "g.47939420C>T" "" "{PMID:Maria 2015:25775262}" "" "" "" "Germline" "" "" "0" "" "" "g.47937403C>T" "" "pathogenic (recessive)" "" "0000785565" "1" "90" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Liu 2015:25611614}" "" "c.1678G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000785586" "2" "90" "4" "47953418" "47953418" "del" "0" "00000" "CNGA1_000081" "g.47953418del" "" "{PMID:Liu 2015:25611614}" "" "397del" "" "Germline" "" "" "0" "" "" "g.47951401del" "" "pathogenic (recessive)" "" "0000786303" "3" "90" "4" "47954625" "47954625" "subst" "7.73842E-5" "00000" "CNGA1_000026" "g.47954625G>A" "" "{PMID:Méndez-Vidal 2014:25494902}" "" "" "" "Germline" "" "" "0" "" "" "g.47952608G>A" "" "pathogenic" "" "0000787628" "3" "70" "4" "47939447" "47939447" "subst" "0" "00000" "CNGA1_000082" "g.47939447C>T" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.47937430C>T" "" "likely pathogenic" "" "0000788133" "3" "70" "4" "47938878" "47938878" "subst" "8.13696E-6" "00000" "CNGA1_000083" "g.47938878C>T" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.47936861C>T" "" "likely pathogenic" "" "0000788134" "1" "70" "4" "47953418" "47953418" "del" "0" "00000" "CNGA1_000081" "g.47953418del" "" "{PMID:Oishi 2014:25324289}" "" "398delG" "" "Germline" "" "" "0" "" "" "g.47951401del" "" "likely pathogenic" "" "0000788135" "3" "70" "4" "47939672" "47939672" "subst" "3.25486E-5" "00000" "CNGA1_000038" "g.47939672C>T" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.47937655C>T" "" "likely pathogenic" "" "0000788172" "2" "70" "4" "47939522" "47939522" "subst" "4.06994E-6" "00000" "CNGA1_000036" "g.47939522T>C" "" "{PMID:Oishi 2014:25324289}" "" "" "" "Germline" "" "" "0" "" "" "g.47937505T>C" "" "likely pathogenic" "" "0000788371" "3" "70" "4" "47972927" "47972927" "del" "0" "00000" "CNGA1_000085" "g.47972927del" "" "{PMID:Katagiri 2014:25268133}" "" "191delG" "" "Germline" "" "" "0" "" "" "g.47970910del" "" "likely pathogenic" "" "0000788446" "0" "70" "4" "47939289" "47939289" "del" "0" "00000" "CNGA1_000084" "g.47939289del" "" "{PMID:Katagiri 2014:25268133}" "" "1429delG" "" "Germline" "" "" "0" "" "" "g.47937272del" "" "likely pathogenic" "" "0000788447" "0" "70" "4" "47954661" "47954661" "del" "0" "00000" "CNGA1_000073" "g.47954661del" "" "{PMID:Katagiri 2014:25268133}" "" "265delC" "" "Germline" "" "" "0" "" "" "g.47952644del" "" "likely pathogenic" "" "0000788458" "3" "70" "4" "47972927" "47972927" "del" "0" "00000" "CNGA1_000085" "g.47972927del" "" "{PMID:Katagiri 2014:25268133}" "" "191delG" "" "Germline" "" "" "0" "" "" "g.47970910del" "" "likely pathogenic" "" "0000788510" "3" "70" "4" "47954661" "47954661" "del" "0" "00000" "CNGA1_000073" "g.47954661del" "" "{PMID:Katagiri 2014:25268133}" "" "265delC" "" "Germline" "" "" "0" "" "" "g.47952644del" "" "likely pathogenic" "" "0000789702" "0" "70" "4" "47939447" "47939447" "subst" "0" "00000" "CNGA1_000082" "g.47939447C>T" "" "{PMID:Jin 2008:18310263}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790146" "3" "50" "4" "47954734" "47954734" "subst" "0" "00000" "CNGA1_000086" "g.47954734G>A" "" "{PMID:Singh 2009:19339744}" "" "rs1972883" "Other changes detected in the proband: rs59800634, rs6819506" "Germline" "" "rs1972883" "0" "" "" "" "" "VUS" "" "0000790578" "0" "50" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Wang 2014:25097241}" "" "NM_000087.3:c.95G>A" "" "Germline" "" "rs76537883" "0" "" "" "" "" "VUS" "" "0000790590" "1" "50" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Wang 2014:25097241}" "" "NM_000087.3:c.521T>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000791178" "3" "90" "4" "47954625" "47954625" "subst" "7.73842E-5" "00000" "CNGA1_000026" "g.47954625G>A" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "" "" "0" "" "" "g.47952608G>A" "" "pathogenic" "ACMG" "0000791553" "21" "70" "4" "47954625" "47954625" "subst" "7.73842E-5" "00000" "CNGA1_000026" "g.47954625G>A" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "c.94C>T, p.(Arg32*) NM_000087.3" "another transcript in publication" "Germline" "yes" "" "0" "" "" "g.47952608G>A" "" "likely pathogenic" "" "0000791565" "11" "70" "4" "47953475" "47953475" "del" "0" "00000" "CNGA1_000087" "g.47953475del" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "c.131del, p.(Glu44Glyfs*49) NM_000087.3" "another transcript in publication" "Germline" "yes" "" "0" "" "" "g.47951458del" "" "likely pathogenic" "" "0000792044" "3" "90" "4" "0" "0" "subst" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Avila Fernandez 2010:21151602}" "" "c.94G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792045" "3" "90" "4" "0" "0" "subst" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Avila Fernandez 2010:21151602}" "" "c.94G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792084" "3" "10" "4" "0" "0" "subst" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Avila Fernandez 2010:21151602}" "" "c.94G>A" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000792085" "3" "90" "4" "0" "0" "subst" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Avila Fernandez 2010:21151602}" "" "c.94G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792086" "3" "90" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Avila Fernandez 2010:21151602}" "" "C. 94G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000792087" "3" "90" "4" "0" "0" "subst" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Avila Fernandez 2010:21151602}" "" "c.94G>A" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000793747" "0" "10" "4" "47973023" "47973023" "subst" "0" "00000" "TRAPPC11_000000" "g.47973023C>T" "1.90% in 360 controls" "{PMID:Simpson-2011:21147909}" "" "c.95G>A" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000794076" "0" "70" "4" "47951884" "47951884" "del" "0.000101684" "03508" "CNGA1_000047" "g.47951884del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.47949867del" "" "pathogenic" "ACMG" "0000794077" "0" "70" "4" "47953418" "47953418" "del" "0" "03508" "CNGA1_000081" "g.47953418del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" ".47951401del" "" "pathogenic" "ACMG" "0000794298" "3" "90" "4" "47951884" "47951884" "del" "0.000101684" "00000" "CNGA1_000047" "g.47951884del" "" "{PMID:Wang 2018:30029497}" "" "NM_000087.3:c.265del, NP_000078.2:p.(Leu89PhefsTer4), NC_000004.11:g.47951884del" "different transcript (NM_000087.3) in publication" "Germline" "?" "" "0" "" "" "g.47949867del" "" "pathogenic" "ACMG" "0000794851" "0" "70" "4" "47954625" "47954625" "subst" "7.73842E-5" "00000" "CNGA1_000026" "g.47954625G>A" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "NM_001142564, c.301C>T, p.Arg101Ter" "" "Germline" "yes" "" "0" "" "" "g.47952608G>A" "" "likely pathogenic" "" "0000794852" "0" "70" "4" "47938971" "47938971" "subst" "4.88297E-5" "00000" "CNGA1_000015" "g.47938971G>A" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "NM_001142564, c.1747C>T, p.Arg583Ter" "" "Germline" "yes" "" "0" "" "" "g.47936954G>A" "" "likely pathogenic" "" "0000794853" "0" "70" "4" "47954625" "47954625" "subst" "7.73842E-5" "00000" "CNGA1_000026" "g.47954625G>A" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "NM_001142564, c.301C>T, p.Arg101Ter" "" "Germline" "yes" "" "0" "" "" "g.47952608G>A" "" "likely pathogenic" "" "0000794854" "0" "70" "4" "47938971" "47938971" "subst" "4.88297E-5" "00000" "CNGA1_000015" "g.47938971G>A" "" "{PMID:Ezquerra-Inchausti 2018:30337596}" "" "NM_001142564, c.1747C>T, p.Arg583Ter" "" "Germline" "yes" "" "0" "" "" "g.47936954G>A" "" "likely pathogenic" "" "0000795945" "3" "90" "4" "47951884" "47951884" "del" "0" "00000" "CNGA1_000047" "g.47951884delG" "" "{PMID:Chen-2013:23462753}" "" "c.472delC(p.Leu158Phefs*4)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796720" "0" "90" "4" "47939682" "47939682" "subst" "1.62746E-5" "00000" "CNGA1_000090" "g.47939682G>A" "" "{PMID:Eisenberger-2013:24265693}" "" "c.1036C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796721" "0" "90" "4" "47939552" "47939552" "subst" "0.00106971" "00000" "CNGA1_000011" "g.47939552G>A" "" "{PMID:Eisenberger-2013:24265693}" "" "c.1166C>T" "" "Germline" "" "rs62625014" "0" "" "" "" "" "pathogenic" "" "0000796750" "3" "90" "4" "47938523" "47938523" "subst" "0" "00000" "CNGA1_000089" "g.47938523T>C" "" "{PMID:Eisenberger-2013:24265693}" "" "c.2195A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796894" "0" "90" "4" "47973001" "47973001" "subst" "0" "00000" "TRAPPC11_000000" "g.47973001G>T" "" "{PMID:Wang-2014:24154662}" "" "c.117C>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796895" "0" "90" "4" "47938833" "47938833" "subst" "8.13048E-6" "00000" "CNGA1_000072" "g.47938833G>A" "" "{PMID:Wang-2014:24154662}" "" "c.1885C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000797089" "0" "50" "4" "47939552" "47939552" "subst" "0.00106971" "00000" "CNGA1_000011" "g.47939552G>A" "" "{PMID:Birtel 2018:30543658}" "" "c.1166C>T , p.Ser389Phe" "Heterozygous" "Germline" "?" "rs62625014" "0" "" "" "g.47937535G>A" "" "VUS" "ACMG" "0000797160" "0" "50" "4" "47939438" "47939438" "subst" "4.08851E-6" "00000" "CNGA1_000091" "g.47939438A>G" "" "{PMID:Birtel 2018:30543658}" "" "c.1280T>C, p.Leu427Pro" "Heterozygous" "Germline" "" "rs748126956" "0" "" "" "g.47937421A>G" "" "VUS" "ACMG" "0000797975" "0" "70" "4" "47939552" "47939552" "subst" "0.00106971" "00000" "CNGA1_000011" "g.47939552G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "CNGA1 c.959C>T, p.(Ser320Phe)" "NM_000087.3(CNGA1):c.959C>T, p.(Ser320Phe); single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.47937535G>A" "" "likely pathogenic" "ACMG" "0000797976" "0" "70" "4" "47939552" "47939552" "subst" "0.00106971" "00000" "CNGA1_000011" "g.47939552G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "CNGA1 c.959C>T (pSer320Phe), ABCA4 c.768G>T, p.(Val256=), splice mutation" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.47937535G>A" "" "likely pathogenic" "ACMG" "0000797978" "0" "70" "4" "47939552" "47939552" "subst" "0.00106971" "00000" "CNGA1_000011" "g.47939552G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "CNGA1 c.959C>T, p.(Ser320Phe)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.47937535G>A" "" "likely pathogenic" "ACMG" "0000811812" "0" "70" "6" "47939552" "47939552" "subst" "0" "00000" "CNGA1_000011" "g.47939552G>A" "" "{PMID:Gao 2019:31054281}" "" "c.959C>T, p.Ser320Phe" "heterozygous" "Germline" "?" "" "0" "" "" "g.47937535G>A" "" "likely pathogenic" "" "0000811871" "0" "70" "11" "47951884" "47951884" "del" "0" "00000" "CNGA1_000047" "g.47951884del" "" "{PMID:Gao 2019:31054281}" "" "c.472delC, p.Leu158Phefs4" "heterozygous" "Germline" "?" "" "0" "" "" "g.47949867del" "" "likely pathogenic" "" "0000812100" "3" "70" "4" "47954625" "47954625" "subst" "7.73842E-5" "00000" "CNGA1_000026" "g.47954625G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "CNGA1 Ex.4 c.94C>T p.(Arg32*), Ex.4 c.94C>T p.(Arg32*)" "homozygous" "Germline" "yes" "" "0" "" "" "g.47952608G>A" "" "likely pathogenic" "" "0000812177" "3" "70" "4" "47938971" "47938971" "subst" "4.88297E-5" "00000" "CNGA1_000015" "g.47938971G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "CNGA1 Ex.11 c.1540C>T p.(Arg514*), Ex.11 c.1540C>T p.(Arg514*)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.47936954G>A" "" "likely pathogenic" "" "0000812178" "3" "70" "4" "47954625" "47954625" "subst" "7.73842E-5" "00000" "CNGA1_000026" "g.47954625G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "CNGA1 Ex.4 c.94C>T p.(Arg32*), Ex.4 c.94C>T p.(Arg32*)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.47952608G>A" "" "likely pathogenic" "" "0000812250" "3" "70" "4" "47954625" "47954625" "subst" "7.73842E-5" "00000" "CNGA1_000026" "g.47954625G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "CNGA1 Ex.4 c.94C>T p.(Arg32*), Ex.4 c.94C>T p.(Arg32*)" "homozygous" "Germline" "yes" "" "0" "" "" "g.47952608G>A" "" "likely pathogenic" "" "0000812267" "3" "70" "4" "47954625" "47954625" "subst" "7.73842E-5" "00000" "CNGA1_000026" "g.47954625G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "CNGA1 Ex.4 c.94C>T p.(Arg32*), Ex.4 c.94C>T p.(Arg32*)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.47952608G>A" "" "likely pathogenic" "" "0000812308" "0" "70" "4" "47954625" "47954625" "subst" "7.73842E-5" "00000" "CNGA1_000026" "g.47954625G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "USH2A Ex.13 c.2276G>T p.(Cys759Phe), IVS40 c.7595-2144A>G p.(?), CNGA1 : Ex.4 c.94C>T p.(Arg32*)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.47952608G>A" "" "likely pathogenic" "" "0000812311" "0" "70" "4" "47939552" "47939552" "subst" "0.00106971" "00000" "CNGA1_000011" "g.47939552G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "CNGA1 Ex.11 c.959C>T p.(Ser320Phe), Ex.11 c.1734del p.(Asp579Metfs*7)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.47937535G>A" "" "likely pathogenic" "" "0000812312" "0" "70" "4" "47938780" "47938780" "del" "0" "00000" "CNGA1_000092" "g.47938780del" "" "{PMID:Martin Merida 2019:30902645}" "" "CNGA1 Ex.11 c.959C>T p.(Ser320Phe), Ex.11 c.1734del p.(Asp579Metfs*7)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.47936763del" "" "likely pathogenic" "" "0000812331" "3" "70" "4" "47939672" "47939672" "subst" "3.25486E-5" "00000" "CNGA1_000038" "g.47939672C>T" "" "{PMID:Martin Merida 2019:30902645}" "" "CNGA1 Ex.11 c.839G>A p.(Arg280His), Ex.11 c.839G>A p.(Arg280His)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.47937655C>T" "" "likely pathogenic" "" "0000813180" "0" "70" "4" "47939567" "47939567" "subst" "0" "00000" "CNGA1_000094" "g.47939567A>G" "0/200 controls" "{PMID:González-del Pozo-2011:22164218}" "" "c.1151T.C" "T not found at position 1292, found C instead." "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813194" "0" "30" "4" "47953441" "47953441" "subst" "0" "00000" "CNGA1_000096" "g.47953441G>A" "" "{PMID:González-del Pozo-2011:22164218}" "" "c.372C>T" "C not found at position 513, found A instead." "Germline" "no" "" "0" "" "" "" "" "likely benign" "" "0000813195" "0" "30" "4" "47951861" "47951861" "subst" "0" "00000" "CNGA1_000095" "g.47951861A>G" "" "{PMID:González-del Pozo-2011:22164218}" "" "c.495T>C" "T not found at position 636, found C instead." "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000813196" "0" "30" "4" "47938884" "47938884" "subst" "0" "00000" "CNGA1_000093" "g.47938884T>G" "" "{PMID:González-del Pozo-2011:22164218}" "" "c.1834A>C" "A not found at position 1975, found T instead." "Germline" "no" "" "0" "" "" "" "" "likely benign" "" "0000814755" "0" "90" "4" "47942822" "47942822" "subst" "0" "00000" "CNGA1_000088" "g.47942822C>T" "" "{PMID:Dan 2020:31960602}" "" "CNGA1 c.829G>A, p.(Asp277Asn)" "heterozygous" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.47940805C>T" "" "pathogenic" "ACMG" "0000814763" "3" "90" "4" "47951884" "47951884" "del" "0.000101684" "00000" "CNGA1_000047" "g.47951884del" "" "{PMID:Dan 2020:31960602}" "" "CNGA1 c.472delC, p.(Leu158Phefs*4)" "homozygous" "Germline" "yes" "" "0" "" "" "g.47949867del" "" "pathogenic" "ACMG" "0000814797" "0" "90" "4" "47951884" "47951884" "del" "0.000101684" "00000" "CNGA1_000047" "g.47951884del" "" "{PMID:Dan 2020:31960602}" "" "CNGA1 c.472delC, p.(Leu158Phefs*4)" "heterozygous" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.47949867del" "" "pathogenic" "ACMG" "0000815435" "0" "50" "4" "47939441" "47939441" "subst" "0.000425247" "00000" "CNGA1_000098" "g.47939441G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "CNGA1:NM_001142564 c.C1277T, p.T426I" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.47937424G>A" "" "VUS" "ACMG" "0000815526" "0" "50" "4" "47938595" "47938595" "subst" "0" "00000" "CNGA1_000097" "g.47938595G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "CNGA1:NM_001142564 c.C2123T, p.T708I" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.47936578G>A" "" "VUS" "ACMG" "0000815580" "0" "70" "4" "47954623" "47954623" "dup" "0" "00000" "CNGA1_000099" "g.47954623dup" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "CNGA1:NM_001142564 c.304dupA, p.R102fs" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.47952606dup" "" "likely pathogenic" "ACMG" "0000815617" "0" "70" "4" "47938826" "47938826" "subst" "9.75649E-5" "00000" "CNGA1_000028" "g.47938826G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "CNGA1:NM_001142564 c.C1892T, p.T631M" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.47936809G>A" "" "likely pathogenic" "ACMG" "0000816001" "0" "90" "4" "47938971" "47938971" "subst" "4.88297E-5" "00000" "CNGA1_000015" "g.47938971G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "CNGA1 c.1540C>T, p.Arg583Ter" "different transcript, error in annotation, NM_000087.3(CNGA1):c.1540C>T, p.(Arg514*), heterozygous" "Unknown" "?" "" "0" "" "" "g.47936954G>A" "" "pathogenic" "" "0000816006" "0" "90" "4" "47938971" "47938971" "subst" "4.88297E-5" "00000" "CNGA1_000015" "g.47938971G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "CNGA1 c.1540C>T, p.Arg583Ter" "different transcript, error in annotation, NM_000087.3(CNGA1):c.1540C>T, p.(Arg514*), heterozygous" "Unknown" "?" "" "0" "" "" "g.47936954G>A" "" "pathogenic" "" "0000816019" "0" "50" "4" "47939000" "47939000" "subst" "4.06706E-6" "00000" "CNGA1_000101" "g.47939000T>C" "" "{PMID:Zampaglione 2020:32037395}" "" "CNGA1 c.1511A>G, p.Asp573Gly" "different transcript, error in annotation, NM_000087.3(CNGA1):c.1511A>G, p.(Asp504Gly), heterozygous" "Unknown" "?" "" "0" "" "" "g.47936983T>C" "" "VUS" "" "0000816344" "0" "90" "4" "47942847" "47942847" "subst" "0" "00000" "CNGA1_000102" "g.47942847A>C" "" "{PMID:Zampaglione 2020:32037395}" "" "c.597T>G, p.Tyr268Ter" "different transcript, error in annotation, NM_000087.3(CNGA1):c.597T>G, p.(Tyr199*), heterozygous" "Unknown" "?" "" "0" "" "" "g.47940830A>C" "" "pathogenic" "" "0000816347" "3" "90" "4" "47938971" "47938971" "subst" "4.88297E-5" "00000" "CNGA1_000015" "g.47938971G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "c.1540C>T, p.Arg583Ter" "different transcript, error in annotation, NM_000087.3(CNGA1):c.1540C>T, p.(Arg514*), homozygous" "Unknown" "?" "" "0" "" "" "g.47936954G>A" "" "pathogenic" "" "0000816362" "0" "90" "4" "47938811" "47938811" "del" "0" "00000" "CNGA1_000100" "g.47938811del" "" "{PMID:Zampaglione 2020:32037395}" "" "c.1907del, p.Ser636IlefsTer19" "heterozygous" "Unknown" "?" "" "0" "" "" "g.47936794del" "" "pathogenic" "" "0000819382" "1" "70" "4" "47939552" "47939552" "subst" "0.00106971" "00000" "CNGA1_000011" "g.47939552G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA1, variant 1: c.959C>T/p.S320F, variant 2: c.1105C>A/p.P369T" "error in annotation, variant matches transcript NM_000087.3 and not the indicated NM_001142564.1, possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.47937535G>A" "" "likely pathogenic" "" "0000820032" "1" "70" "4" "47939378" "47939378" "subst" "2.45072E-5" "00000" "CNGA1_000104" "g.47939378A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA1, variant 1 :[c.1133T>C/p.V378A; c.1154G>C/p.G385A], variant 2 :[c.1133T>C/p.V378A; c.1154G>C/p.G385A]" "error in annotation, variant matches transcript NM_000087.3 and not the indicated NM_001142564.1, possibly solved, homozygous" "Unknown" "?" "" "0" "" "" "g.47937361A>G" "" "likely pathogenic" "" "0000820251" "1" "70" "4" "47938833" "47938833" "subst" "8.13048E-6" "00000" "CNGA1_000072" "g.47938833G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA1, variant 1: c.1678C>T/p.R560*, variant 2: c.1678C>T/p.R560*" "error in annotation, variant matches transcript NM_000087.3 and not the indicated NM_001142564.1, solved, homozygous" "Unknown" "?" "" "0" "" "" "g.47936816G>A" "" "likely pathogenic" "" "0000820443" "1" "70" "4" "47939455" "47939455" "subst" "0" "00000" "CNGA1_000068" "g.47939455G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA1, variant 1: c.1056C>A/p.S352R, variant 2: c.1056C>A/p.S352R" "error in annotation, variant matches transcript NM_000087.3 and not the indicated NM_001142564.1, possibly solved, homozygous" "Unknown" "?" "" "0" "" "" "g.47937438G>T" "" "likely pathogenic" "" "0000820471" "1" "70" "4" "47939289" "47939293" "del" "0" "00000" "CNGA1_000103" "g.47939289_47939293del" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA1, variant 1: c.1222_1226del/p.A408Ifs*6, variant 2: c.1040G>C/p.R347T" "error in annotation, variant matches transcript NM_000087.3 and not the indicated NM_001142564.1, possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.47937272_47937276del" "" "likely pathogenic" "" "0000820473" "1" "70" "4" "47939552" "47939552" "subst" "0.00106971" "00000" "CNGA1_000011" "g.47939552G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA1, variant 1: c.959C>T/p.S320F, variant 2: c.959C>T/p.S320F" "error in annotation, variant matches transcript NM_000087.3 and not the indicated NM_001142564.1, solved, homozygous" "Unknown" "?" "" "0" "" "" "g.47937535G>A" "" "likely pathogenic" "" "0000820629" "1" "70" "4" "47939406" "47939406" "subst" "0" "00000" "CNGA1_000105" "g.47939406G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA1, variant 1: c.959C>T/p.S320F, variant 2: c.1105C>A/p.P369T" "error in annotation, variant matches transcript NM_000087.3 and not the indicated NM_001142564.1, possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.47937389G>T" "" "likely pathogenic" "" "0000820931" "1" "70" "4" "47939471" "47939471" "subst" "0" "00000" "CNGA1_000106" "g.47939471C>G" "" "{PMID:Weisschuh 2020:32531858}" "" "CNGA1, variant 1: c.1222_1226del/p.A408Ifs*6, variant 2: c.1040G>C/p.R347T" "error in annotation, variant matches transcript NM_000087.3 and not the indicated NM_001142564.1, possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.47937454C>G" "" "likely pathogenic" "" "0000821211" "0" "90" "4" "47938971" "47938971" "subst" "4.88297E-5" "00000" "CNGA1_000015" "g.47938971G>A" "" "{PMID:Turro 2020:32581362}" "" "CNGA1 c.1747C>T, p.Arg583Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.47936954G>A" "" "pathogenic" "" "0000821212" "3" "90" "4" "47938833" "47938833" "subst" "8.13048E-6" "00000" "CNGA1_000072" "g.47938833G>A" "" "{PMID:Turro 2020:32581362}" "" "CNGA1 c.1885C>T, p.Arg629Ter" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.47936816G>A" "" "pathogenic" "" "0000821536" "0" "90" "4" "47938833" "47938833" "subst" "8.13048E-6" "00000" "CNGA1_000072" "g.47938833G>A" "" "{PMID:Turro 2020:32581362}" "" "CNGA1 c.1885C>T, p.Arg629Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.47936816G>A" "" "pathogenic" "" "0000822088" "0" "70" "4" "47939771" "47939771" "subst" "0" "00000" "CNGA1_000107" "g.47939771G>A" "" "{PMID:Booij-2011:20801516}" "" "c.947C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822943" "3" "70" "4" "47939683" "47939683" "dup" "0" "00000" "CNGA1_000108" "g.47939683dup" "" "{PMID:Méjécase 2020:32783370}" "" "CNGA1 c.1035dup p.(Arg346Thrfs *7)" "homozygous" "Unknown" "?" "" "0" "" "" "g.47937666dup" "" "likely pathogenic" "" "0000824649" "3" "90" "4" "47972927" "47972927" "del" "0" "00000" "CNGA1_000085" "g.47972927del" "" "{PMID:Ma 2021:33691693}" "" "CNGA1 c.191delG, p.G64fs" "marked as causative, homozygous" "Unknown" "?" "" "0" "" "" "g.47970910del" "" "pathogenic" "ACMG" "0000825874" "3" "70" "4" "47954659" "47954659" "del" "0" "00000" "CNGA1_000073" "g.47954659del" "" "{PMID:Liu-2020:33090715}" "" "c.265delC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000825994" "3" "70" "4" "47954659" "47954659" "del" "0" "00000" "CNGA1_000073" "g.47954659del" "" "{PMID:Liu-2020:33090715}" "" "c.265delC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826030" "3" "70" "4" "47954659" "47954659" "del" "0" "00000" "CNGA1_000073" "g.47954659del" "" "{PMID:Liu-2020:33090715}" "" "c.265delC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826047" "3" "70" "4" "47954659" "47954659" "del" "0" "00000" "CNGA1_000073" "g.47954659del" "" "{PMID:Liu-2020:33090715}" "" "c.265delC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826116" "0" "70" "4" "47945398" "47945398" "subst" "0" "00000" "CNGA1_000112" "g.47945398A>G" "" "{PMID:Liu-2020:33090715}" "" "c.538T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826117" "0" "70" "4" "47954659" "47954659" "del" "0" "00000" "CNGA1_000073" "g.47954659del" "" "{PMID:Liu-2020:33090715}" "" "c.265delC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826177" "0" "70" "4" "47954659" "47954659" "del" "0" "00000" "CNGA1_000073" "g.47954659del" "" "{PMID:Liu-2020:33090715}" "" "c.265delC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826178" "0" "70" "4" "47939480" "47939480" "subst" "0" "00000" "CNGA1_000110" "g.47939480C>A" "" "{PMID:Liu-2020:33090715}" "" "c.1238G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826188" "3" "70" "4" "47954659" "47954659" "del" "0" "00000" "CNGA1_000073" "g.47954659del" "" "{PMID:Liu-2020:33090715}" "" "c.265delC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826338" "0" "70" "4" "47942812" "47942812" "subst" "0" "00000" "CNGA1_000038" "g.47942812C>T" "" "{PMID:Liu-2020:33090715}" "" "c.839G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826339" "0" "70" "4" "47954659" "47954659" "del" "0" "00000" "CNGA1_000073" "g.47954659del" "" "{PMID:Liu-2020:33090715}" "" "c.265delC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000827200" "0" "50" "4" "47939172" "47939172" "dup" "5.29023E-5" "00000" "CNGA1_000109" "g.47939172dup" "" "{PMID:Colombo-2020:33576794}" "" "c.1339dup" "" "Germline" "" "rs772867912" "0" "" "" "" "" "VUS" "" "0000827201" "0" "50" "4" "47938971" "47938971" "subst" "4.88297E-5" "00000" "CNGA1_000015" "g.47938971G>A" "" "{PMID:Colombo-2020:33576794}" "" "c.1540C>T (p.(Arg514*))" "" "Germline" "" "rs199584830" "0" "" "" "" "" "VUS" "" "0000827202" "3" "50" "4" "47938971" "47938971" "subst" "4.88297E-5" "00000" "CNGA1_000015" "g.47938971G>A" "" "{PMID:Colombo-2020:33576794}" "" "c.1540C>T (p.(Arg514*))" "" "Germline" "" "rs199584830" "0" "" "" "" "" "VUS" "" "0000827203" "3" "50" "4" "47938753" "47938756" "del" "1.62688E-5" "00000" "CNGA1_000075" "g.47938753_47938756del" "" "{PMID:Colombo-2020:33576794}" "" "c.1755_1758del" "" "Germline" "" "rs768694789" "0" "" "" "" "" "VUS" "" "0000827204" "3" "90" "4" "47944167" "47944167" "subst" "0" "00000" "CNGA1_000111" "g.47944167T>C" "" "{PMID:Colombo-2020:33576794}" "" "c.450-2A>G" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000829823" "3" "90" "4" "47954659" "47954659" "del" "0" "00000" "CNGA1_000073" "g.47954659del" "" "{PMID:Numa-2020:33247286}" "" "c.265delC:p.L89fs" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000829878" "0" "90" "4" "47972927" "47972927" "del" "0" "00000" "CNGA1_000085" "g.47972927del" "" "{PMID:Numa-2020:33247286}" "" "c.191delG:p.G64fs" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000829879" "0" "90" "4" "47954659" "47954659" "del" "0" "00000" "CNGA1_000073" "g.47954659del" "" "{PMID:Numa-2020:33247286}" "" "c.265delC:p.L89fs" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000829880" "3" "90" "4" "47954659" "47954659" "del" "0" "00000" "CNGA1_000073" "g.47954659del" "" "{PMID:Numa-2020:33247286}" "" "c.265delC:p.L89fs" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000829891" "0" "90" "4" "47972927" "47972927" "del" "0" "00000" "CNGA1_000085" "g.47972927del" "" "{PMID:Numa-2020:33247286}" "" "c.191delG:p.G64fs" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000829892" "0" "90" "4" "47954659" "47954659" "del" "0" "00000" "CNGA1_000073" "g.47954659del" "" "{PMID:Numa-2020:33247286}" "" "c.265delC:p.L89fs" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000829911" "3" "90" "4" "47972927" "47972927" "del" "0" "00000" "CNGA1_000085" "g.47972927del" "" "{PMID:Numa-2020:33247286}" "" "c.191delG:p.G64fs" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000829988" "3" "50" "4" "47973077" "47973077" "subst" "0" "00000" "TRAPPC11_000000" "g.47973077T>A" "" "{PMID:Numa-2020:33247286}" "" "c.41A>T:p.Q14L" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000847763" "3" "70" "4" "47954625" "47954625" "subst" "7.73842E-5" "00000" "CNGA1_000026" "g.47954625G>A" "" "{PMID:Paloma 2002:12362048}" "" "CNGA1 c.82C>T; R28X" "different transcript; NM_001379270.1(CNGA1):c.82C>T, p.(Arg28*) = NM_001142564.1(CNGA1):c.301C>T, p.(Arg101*); homozygous" "Germline" "?" "" "0" "" "" "g.47952608G>A" "" "likely pathogenic" "" "0000847764" "3" "70" "4" "47954625" "47954625" "subst" "7.73842E-5" "00000" "CNGA1_000026" "g.47954625G>A" "" "{PMID:Paloma 2002:12362048}" "" "CNGA1 c.82C>T; R28X" "different transcript; NM_001379270.1(CNGA1):c.82C>T, p.(Arg28*) = NM_001142564.1(CNGA1):c.301C>T, p.(Arg101*); homozygous" "Germline" "?" "" "0" "" "" "g.47952608G>A" "" "likely pathogenic" "" "0000847765" "3" "70" "4" "47945241" "47945242" "del" "0" "00000" "CNGA1_000114" "g.47945241_47945242del" "" "{PMID:Zhang 2004:15570217}" "" "CNGA1 c.626_627delTA, p.Ser209fsX26" "different, unknown transcript; extrapolating from sequence this change should be annotated c.614_615del, p.(Ile205Serfs*26); homozygous" "Germline" "?" "" "0" "" "" "g.47943224_47943225del" "" "likely pathogenic" "" "0000847766" "3" "70" "4" "47945241" "47945242" "del" "0" "00000" "CNGA1_000114" "g.47945241_47945242del" "" "{PMID:Zhang 2004:15570217}" "" "CNGA1 c.626_627delTA, p.Ser209fsX26" "different, unknown transcript; extrapolating from sequence this change should be annotated c.614_615del, p.(Ile205Serfs*26); homozygous" "Germline" "?" "" "0" "" "" "g.47943224_47943225del" "" "likely pathogenic" "" "0000847767" "3" "70" "4" "47945241" "47945242" "del" "0" "00000" "CNGA1_000114" "g.47945241_47945242del" "" "{PMID:Zhang 2004:15570217}" "" "CNGA1 c.626_627delTA, p.Ser209fsX26" "different, unknown transcript; extrapolating from sequence this change should be annotated c.614_615del, p.(Ile205Serfs*26); homozygous" "Germline" "?" "" "0" "" "" "g.47943224_47943225del" "" "likely pathogenic" "" "0000847768" "3" "70" "4" "47945241" "47945242" "del" "0" "00000" "CNGA1_000114" "g.47945241_47945242del" "" "{PMID:Zhang 2004:15570217}" "" "CNGA1 c.626_627delTA, p.Ser209fsX26" "different, unknown transcript; extrapolating from sequence this change should be annotated c.614_615del, p.(Ile205Serfs*26); homozygous" "Germline" "?" "" "0" "" "" "g.47943224_47943225del" "" "likely pathogenic" "" "0000847769" "3" "70" "4" "47945241" "47945242" "del" "0" "00000" "CNGA1_000114" "g.47945241_47945242del" "" "{PMID:Zhang 2004:15570217}" "" "CNGA1 c.626_627delTA, p.Ser209fsX26" "different, unknown transcript; extrapolating from sequence this change should be annotated c.614_615del, p.(Ile205Serfs*26); homozygous" "Germline" "?" "" "0" "" "" "g.47943224_47943225del" "" "likely pathogenic" "" "0000847770" "3" "70" "4" "47945241" "47945242" "del" "0" "00000" "CNGA1_000114" "g.47945241_47945242del" "" "{PMID:Zhang 2004:15570217}" "" "CNGA1 c.626_627delTA, p.Ser209fsX26" "different, unknown transcript; extrapolating from sequence this change should be annotated c.614_615del, p.(Ile205Serfs*26); homozygous" "Germline" "?" "" "0" "" "" "g.47943224_47943225del" "" "likely pathogenic" "" "0000847771" "3" "70" "4" "47945241" "47945242" "del" "0" "00000" "CNGA1_000114" "g.47945241_47945242del" "" "{PMID:Zhang 2004:15570217}" "" "CNGA1 c.626_627delTA, p.Ser209fsX26" "different, unknown transcript; extrapolating from sequence this change should be annotated c.614_615del, p.(Ile205Serfs*26); homozygous" "Germline" "?" "" "0" "" "" "g.47943224_47943225del" "" "likely pathogenic" "" "0000847772" "21" "70" "4" "47938974" "47938974" "subst" "8.13875E-6" "00000" "CNGA1_000113" "g.47938974C>T" "" "{PMID:Jin 2016:26802146}" "" "CNGA1 c.1537G>A, p.G513R" "different transcript: NM_000087.3(CNGA1):c.1537G>A, p.(Gly513Arg) = NM_001142564.1(CNGA1):c.1744G>A, p.(Gly582Arg); heterozygous" "Germline" "yes" "" "0" "" "" "g.47936957C>T" "" "likely pathogenic" "" "0000847773" "21" "70" "4" "47938974" "47938974" "subst" "8.13875E-6" "00000" "CNGA1_000113" "g.47938974C>T" "" "{PMID:Jin 2016:26802146}" "" "CNGA1 c.1537G>A, p.G513R" "different transcript: NM_000087.3(CNGA1):c.1537G>A, p.(Gly513Arg) = NM_001142564.1(CNGA1):c.1744G>A, p.(Gly582Arg); heterozygous" "Germline" "yes" "" "0" "" "" "g.47936957C>T" "" "likely pathogenic" "" "0000847774" "10" "70" "4" "47951884" "47951884" "del" "0.000101684" "00000" "CNGA1_000047" "g.47951884del" "" "{PMID:Jin 2016:26802146}" "" "CNGA1 c.265del, p.L89Ffs*4" "different transcript: NM_000087.3(CNGA1):c.265del, p.(Leu89Phefs*4) = NM_001142564.1(CNGA1):c.472del, p.(Leu158Phefs*4); heterozygous" "Germline" "yes" "" "0" "" "" "g.47949867del" "" "likely pathogenic" "" "0000847775" "10" "70" "4" "47951884" "47951884" "del" "0.000101684" "00000" "CNGA1_000047" "g.47951884del" "" "{PMID:Jin 2016:26802146}" "" "CNGA1 c.265del, p.L89Ffs*4" "different transcript: NM_000087.3(CNGA1):c.265del, p.(Leu89Phefs*4) = NM_001142564.1(CNGA1):c.472del, p.(Leu158Phefs*4); heterozygous" "Germline" "yes" "" "0" "" "" "g.47949867del" "" "likely pathogenic" "" "0000847776" "2" "70" "4" "47951884" "47951884" "del" "0.000101684" "00000" "CNGA1_000047" "g.47951884del" "" "{PMID:Wang 2016:27391953}" "" "CNGA1 c.265delC, p.L89fs" "different transcript: NM_000087.3(CNGA1):c.265del, p.(Leu89Phefs*4) = NM_001142564.1(CNGA1):c.472del, p.(Leu158Phefs*4); heterozygous" "Germline" "yes" "" "0" "" "" "g.47949867del" "" "likely pathogenic" "" "0000847777" "2" "70" "4" "47951884" "47951884" "del" "0.000101684" "00000" "CNGA1_000047" "g.47951884del" "" "{PMID:Wang 2016:27391953}" "" "CNGA1 c.265delC, p.L89fs" "different transcript: NM_000087.3(CNGA1):c.265del, p.(Leu89Phefs*4) = NM_001142564.1(CNGA1):c.472del, p.(Leu158Phefs*4); heterozygous" "Germline" "yes" "" "0" "" "" "g.47949867del" "" "likely pathogenic" "" "0000847778" "1" "70" "4" "47951903" "47951903" "subst" "4.06759E-6" "00000" "CNGA1_000115" "g.47951903G>T" "" "{PMID:Wang 2016:27391953}" "" "CNGA1 c.246C > A, p.Y82X" "different transcript: NM_000087.3(CNGA1):c.246C>A, p.(Tyr82*) = NM_001142564.1(CNGA1):c.453C>A, p.(Tyr151*); heterozygous" "Germline" "yes" "" "0" "" "" "g.47949886G>T" "" "likely pathogenic" "" "0000847779" "1" "70" "4" "47951903" "47951903" "subst" "4.06759E-6" "00000" "CNGA1_000115" "g.47951903G>T" "" "{PMID:Wang 2016:27391953}" "" "CNGA1 c.246C > A, p.Y82X" "different transcript: NM_000087.3(CNGA1):c.246C>A, p.(Tyr82*) = NM_001142564.1(CNGA1):c.453C>A, p.(Tyr151*); heterozygous" "Germline" "yes" "" "0" "" "" "g.47949886G>T" "" "likely pathogenic" "" "0000847781" "11" "70" "4" "47942822" "47942822" "subst" "0" "00000" "CNGA1_000088" "g.47942822C>T" "" "{PMID:Gao 2018:30652268}" "" "CNGA1 c.G622A" "different transcript: NM_000087.3(CNGA1):c.622G>A, p.(Asp208Asn) = NM_001142564.1(CNGA1):c.829G>A, p.(Asp277Asn); heterozygous" "Germline" "yes" "" "0" "" "" "g.47940805C>T" "" "likely pathogenic" "" "0000847782" "21" "70" "4" "47951884" "47951884" "del" "0.000101684" "00000" "CNGA1_000047" "g.47951884del" "" "{PMID:Gao 2018:30652268}" "" "CNGA1 .c.472delC, p.(L158Ffs*4)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.47949867del" "" "likely pathogenic" "" "0000850617" "0" "50" "4" "47938560" "47938560" "subst" "0.000333398" "01943" "CNGA1_000005" "g.47938560T>C" "" "" "" "CNGA1(NM_001142564.1):c.2158A>G (p.M720V), CNGA1(NM_001142564.2):c.1939A>G (p.M647V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850618" "0" "50" "4" "47938902" "47938902" "subst" "0" "01943" "CNGA1_000116" "g.47938902C>T" "" "" "" "CNGA1(NM_001142564.1):c.1816G>A (p.V606I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850619" "0" "30" "4" "47954680" "47954680" "subst" "8.17568E-6" "02330" "CNGA1_000071" "g.47954680C>T" "" "" "" "CNGA1(NM_001142564.1):c.246G>A (p.Q82=), CNGA1(NM_001142564.2):c.27G>A (p.Q9=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859441" "0" "30" "4" "47972990" "47972990" "subst" "0" "01943" "CNGA1_000117" "g.47972990T>C" "" "" "" "CNGA1(NM_001142564.1):c.128A>G (p.H43R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000873535" "0" "70" "4" "47942822" "47942822" "subst" "0" "00000" "CNGA1_000088" "g.47942822C>T" "168" "{PMID:Sun 2018:30076350}" "" "CNGA1(NM_001142564.1):c.829G>A (p.D277N)/c.472delC(p.L158Ffs*4)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.47940805C>T" "" "likely pathogenic" "" "0000873536" "0" "70" "4" "47951884" "47951884" "del" "0.000101684" "00000" "CNGA1_000047" "g.47951884del" "168" "{PMID:Sun 2018:30076350}" "" "CNGA1(NM_001142564.1):c.829G>A (p.D277N)/c.472delC(p.L158Ffs*4)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.47949867del" "" "likely pathogenic" "" "0000886290" "0" "90" "4" "47938971" "47938971" "subst" "4.88297E-5" "02330" "CNGA1_000015" "g.47938971G>A" "" "" "" "CNGA1(NM_001142564.2):c.1528C>T (p.R510*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000886291" "0" "30" "4" "47939240" "47939240" "subst" "0.00098044" "02330" "CNGA1_000032" "g.47939240C>T" "" "" "" "CNGA1(NM_001142564.2):c.1259G>A (p.R420Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886292" "0" "10" "4" "47939480" "47939480" "subst" "0.0020883" "02330" "CNGA1_000010" "g.47939480C>T" "" "" "" "CNGA1(NM_001142564.1):c.1238G>A (p.R413H), CNGA1(NM_001142564.2):c.1019G>A (p.R340H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886293" "0" "90" "4" "47942792" "47942792" "subst" "6.11222E-5" "02327" "CNGA1_000042" "g.47942792G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000905904" "0" "90" "4" "47939552" "47939552" "subst" "0.00106971" "00000" "CNGA1_000011" "g.47939552G>A" "" "{PMID:Zhu 2022:35456422}" "" "CNGA1 c.1166C>T, p.(Ser389Phe)" "heterozygous, probably non-causal incidental finding" "Germline/De novo (untested)" "?" "" "0" "" "" "g.47937535G>A" "" "pathogenic" "ACMG" "0000915938" "3" "70" "4" "47939691" "47939691" "subst" "4.06841E-6" "04436" "CNGA1_000121" "g.47939691T>C" "" "{PMID:Panneman 2023:36819107}" "" "c.1027A>G" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916076" "3" "90" "4" "47939190" "47939190" "subst" "8.13597E-6" "04436" "CNGA1_000119" "g.47939190G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.1528C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916093" "1" "90" "4" "47939190" "47939190" "subst" "8.13597E-6" "04436" "CNGA1_000119" "g.47939190G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.1528C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916094" "2" "70" "4" "0" "0" "" "0" "04436" "TRAPPC11_000000" "g.?" "" "{PMID:Panneman 2023:36819107}" "" "c.(287+1_288-1)_(652+1_653-1)del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916124" "1" "90" "4" "47973036" "47973036" "subst" "0" "04436" "CNGA1_000123" "g.47973036G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.82C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916125" "2" "90" "4" "47939190" "47939190" "subst" "8.13597E-6" "04436" "CNGA1_000119" "g.47939190G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.1528C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916672" "1" "70" "4" "47939643" "47939643" "dup" "0" "04436" "CNGA1_000120" "g.47939643dup" "" "{PMID:Panneman 2023:36819107}" "" "c.1075dup" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916673" "2" "90" "4" "47938971" "47938971" "subst" "4.88297E-5" "04436" "CNGA1_000015" "g.47938971G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.1747C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916691" "3" "70" "4" "47939017" "47939017" "del" "0" "04436" "CNGA1_000118" "g.47939017del" "" "{PMID:Panneman 2023:36819107}" "" "c.1701del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916709" "3" "90" "4" "47954673" "47954673" "del" "0" "04436" "CNGA1_000122" "g.47954673del" "" "{PMID:Panneman 2023:36819107}" "" "c.253del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000933367" "0" "90" "4" "47942792" "47942792" "subst" "6.11222E-5" "04552" "CNGA1_000042" "g.47942792G>A" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs759781200" "0" "" "" "" "{CV:167431}" "pathogenic" "ACMG" "0000933368" "0" "50" "4" "47939446" "47939446" "subst" "0" "04552" "CNGA1_000124" "g.47939446C>G" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "" "0" "" "" "" "{CV:437983}" "VUS" "ACMG" "0000958042" "3" "90" "4" "47954625" "47954625" "subst" "7.73842E-5" "00006" "CNGA1_000026" "g.47954625G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.47952608G>A" "548707" "pathogenic (recessive)" "ACMG" "0000958043" "3" "70" "4" "47931965" "47946798" "del" "0" "00006" "CNGA1_000052" "g.47931965_47946798del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.47929948_47944781del" "" "likely pathogenic (recessive)" "ACMG" "0000959032" "0" "90" "4" "47939552" "47939552" "subst" "0.00106971" "00006" "CNGA1_000011" "g.47939552G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.47937535G>A" "" "pathogenic (recessive)" "ACMG" "0000959038" "0" "70" "4" "48003012" "48022989" "dup" "0" "00006" "CNGA1_000125" "g.48003012_48022989dup" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.48000995_48020972dup" "" "likely pathogenic (recessive)" "ACMG" "0000959344" "0" "90" "4" "47939552" "47939552" "subst" "0.00106971" "00006" "CNGA1_000011" "g.47939552G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.47937535G>A" "" "pathogenic (recessive)" "ACMG" "0000959473" "0" "90" "4" "47939552" "47939552" "subst" "0.00106971" "00006" "CNGA1_000011" "g.47939552G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.47937535G>A" "" "pathogenic (recessive)" "ACMG" "0000994310" "0" "30" "4" "47945293" "47945293" "subst" "0" "01804" "CNGA1_000126" "g.47945293A>T" "" "" "" "CNGA1(NM_000087.3):c.354T>A (p.(Asp118Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013969" "0" "70" "4" "47939552" "47939552" "subst" "0.00106971" "02325" "CNGA1_000011" "g.47939552G>A" "" "" "" "CNGA1(NM_000087.5):c.947C>T (p.S316F), CNGA1(NM_001142564.1):c.1166C>T (p.S389F), CNGA1(NM_001142564.2):c.947C>T (p.S316F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## 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 CNGA1 ## Count = 417 "{{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}}" "0000019511" "00005378" "95" "1885" "0" "1885" "0" "c.1885C>T" "r.(?)" "p.(Arg629*)" "11" "0000019512" "00005378" "95" "117" "0" "117" "0" "c.117C>A" "r.(?)" "p.(Cys39*)" "4" "0000158343" "00005378" "90" "626" "0" "627" "0" "c.626_627del" "r.(?)" "p.(Ile209Serfs*26)" "7" "0000246249" "00005378" "10" "495" "0" "495" "0" "c.495T>C" "r.(?)" "p.(Tyr165=)" "" "0000246249" "00025403" "10" "702" "0" "702" "0" "c.702T>C" "r.(?)" "p.(Tyr234=)" "" "0000246263" "00005378" "10" "557" "11" "557" "11" "c.557+11T>C" "r.(=)" "p.(=)" "" "0000246263" "00025403" "10" "764" "11" "764" "11" "c.764+11T>C" "r.(=)" "p.(=)" "" "0000246264" "00005378" "10" "-3" "10290" "-3" "10290" "c.-3+10290del" "r.(=)" "p.(=)" "" "0000246264" "00025403" "10" "1" "-3" "1" "-3" "c.1-3del" "r.spl?" "p.?" "" "0000249051" "00005378" "10" "557" "28" "557" "28" "c.557+28del" "r.(=)" "p.(=)" "" "0000249051" "00025403" "10" "764" "28" "764" "28" "c.764+28del" "r.(=)" "p.(=)" "" "0000264671" "00005378" "10" "1107" "0" "1107" "0" "c.1107C>T" "r.(?)" "p.(Pro369=)" "" "0000264671" "00025403" "10" "1314" "0" "1314" "0" "c.1314C>T" "r.(?)" "p.(Pro438=)" "" "0000264672" "00005378" "10" "1419" "0" "1419" "0" "c.1419A>G" "r.(?)" "p.(Thr473=)" "" "0000264672" "00025403" "10" "1626" "0" "1626" "0" "c.1626A>G" "r.(?)" "p.(Thr542=)" "" "0000264673" "00005378" "10" "1799" "0" "1799" "0" "c.1799A>G" "r.(?)" "p.(Lys600Arg)" "" "0000264673" "00025403" "10" "2006" "0" "2006" "0" "c.2006A>G" "r.(?)" "p.(Lys669Arg)" "" "0000264674" "00005378" "50" "1951" "0" "1951" "0" "c.1951A>G" "r.(?)" "p.(Met651Val)" "" "0000264674" "00025403" "50" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Met720Val)" "" "0000264675" "00005378" "10" "2061" "0" "2061" "0" "c.2061C>T" "r.(?)" "p.(Ile687=)" "" "0000264675" "00025403" "10" "2268" "0" "2268" "0" "c.2268C>T" "r.(?)" "p.(Ile756=)" "" "0000264676" "00005378" "10" "191" "0" "191" "0" "c.191G>A" "r.(?)" "p.(Gly64Asp)" "" "0000264676" "00025403" "10" "398" "0" "398" "0" "c.398G>A" "r.(?)" "p.(Gly133Asp)" "" "0000273639" "00005378" "70" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "" "0000273639" "00025403" "70" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Ser389Phe)" "" "0000273640" "00005378" "30" "1031" "0" "1031" "0" "c.1031G>A" "r.(?)" "p.(Arg344His)" "" "0000273640" "00025403" "30" "1238" "0" "1238" "0" "c.1238G>A" "r.(?)" "p.(Arg413His)" "" "0000273641" "00005378" "50" "1043" "0" "1043" "0" "c.1043A>G" "r.(?)" "p.(Lys348Arg)" "" "0000273641" "00025403" "50" "1250" "0" "1250" "0" "c.1250A>G" "r.(?)" "p.(Lys417Arg)" "" "0000273642" "00005378" "30" "372" "0" "372" "0" "c.372C>T" "r.(?)" "p.(Asn124=)" "" "0000273642" "00025403" "30" "579" "0" "579" "0" "c.579C>T" "r.(?)" "p.(Asn193=)" "" "0000273643" "00005378" "50" "483" "0" "483" "0" "c.483G>A" "r.(?)" "p.(Ser161=)" "" "0000273643" "00025403" "50" "690" "0" "690" "0" "c.690G>A" "r.(?)" "p.(Ser230=)" "" "0000338243" "00005378" "10" "-117" "0" "-117" "0" "c.-117C>T" "r.(?)" "p.(=)" "" "0000338243" "00025403" "10" "-29408" "0" "-29408" "0" "c.-29408C>T" "r.(?)" "p.(=)" "" "0000340163" "00005378" "10" "-282" "0" "-282" "0" "c.-282T>G" "r.(?)" "p.(=)" "" "0000340163" "00025403" "10" "-31568" "0" "-31568" "0" "c.-31568T>G" "r.(?)" "p.(=)" "" "0000343038" "00005378" "90" "1540" "0" "1540" "0" "c.1540C>T" "r.(?)" "p.(Arg514Ter)" "" "0000343038" "00025403" "90" "1747" "0" "1747" "0" "c.1747C>T" "r.(?)" "p.(Arg583Ter)" "" "0000343084" "00005378" "50" "1433" "0" "1433" "0" "c.1433G>A" "r.(?)" "p.(Arg478His)" "" "0000343084" "00025403" "50" "1640" "0" "1640" "0" "c.1640G>A" "r.(?)" "p.(Arg547His)" "" "0000347008" "00005378" "90" "686" "0" "686" "0" "c.686del" "r.(?)" "p.(Leu229ArgfsTer2)" "" "0000347008" "00025403" "90" "893" "0" "893" "0" "c.893del" "r.(?)" "p.(Leu298ArgfsTer2)" "" "0000348936" "00005378" "70" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "" "0000348936" "00025403" "70" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Ser389Phe)" "" "0000358206" "00005378" "90" "1540" "0" "1540" "0" "c.1540C>T" "r.(?)" "p.(Arg514*)" "15" "0000358419" "00005378" "90" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Arg32*)" "5" "0000476387" "00005378" "50" "2042" "0" "2042" "0" "c.2042G>C" "r.(?)" "p.(Gly681Ala)" "" "0000476387" "00025403" "50" "2249" "0" "2249" "0" "c.2249G>C" "r.(?)" "p.(Gly750Ala)" "" "0000476388" "00005378" "50" "1685" "0" "1685" "0" "c.1685C>T" "r.(?)" "p.(Thr562Met)" "" "0000476388" "00025403" "50" "1892" "0" "1892" "0" "c.1892C>T" "r.(?)" "p.(Thr631Met)" "" "0000476389" "00005378" "50" "1448" "0" "1448" "0" "c.1448G>C" "r.(?)" "p.(Cys483Ser)" "" "0000476389" "00025403" "50" "1655" "0" "1655" "0" "c.1655G>C" "r.(?)" "p.(Cys552Ser)" "" "0000476390" "00005378" "90" "1430" "0" "1430" "0" "c.1430del" "r.(?)" "p.(Val477Aspfs*17)" "" "0000476390" "00025403" "90" "1637" "0" "1637" "0" "c.1637del" "r.(?)" "p.(Val546Aspfs*17)" "" "0000476391" "00005378" "50" "1390" "0" "1390" "0" "c.1390del" "r.(?)" "p.(Glu464Lysfs*8)" "" "0000476391" "00025403" "50" "1597" "0" "1597" "0" "c.1597del" "r.(?)" "p.(Glu533Lysfs*8)" "" "0000476392" "00005378" "50" "1271" "0" "1271" "0" "c.1271G>A" "r.(?)" "p.(Arg424Gln)" "" "0000476392" "00025403" "50" "1478" "0" "1478" "0" "c.1478G>A" "r.(?)" "p.(Arg493Gln)" "" "0000476393" "00005378" "90" "1270" "0" "1270" "0" "c.1270C>T" "r.(?)" "p.(Arg424*)" "" "0000476393" "00025403" "90" "1477" "0" "1477" "0" "c.1477C>T" "r.(?)" "p.(Arg493*)" "" "0000476394" "00005378" "50" "1187" "0" "1187" "0" "c.1187T>C" "r.(?)" "p.(Ile396Thr)" "" "0000476394" "00025403" "50" "1394" "0" "1394" "0" "c.1394T>C" "r.(?)" "p.(Ile465Thr)" "" "0000476395" "00005378" "50" "1118" "0" "1118" "0" "c.1118C>A" "r.(?)" "p.(Ser373Tyr)" "" "0000476395" "00025403" "50" "1325" "0" "1325" "0" "c.1325C>A" "r.(?)" "p.(Ser442Tyr)" "" "0000476396" "00005378" "90" "989" "0" "989" "0" "c.989A>G" "r.(?)" "p.(Asp330Gly)" "" "0000476396" "00025403" "90" "1196" "0" "1196" "0" "c.1196A>G" "r.(?)" "p.(Asp399Gly)" "" "0000476397" "00005378" "50" "860" "0" "860" "0" "c.860G>A" "r.(?)" "p.(Arg287Lys)" "" "0000476397" "00025403" "50" "1067" "0" "1067" "0" "c.1067G>A" "r.(?)" "p.(Arg356Lys)" "" "0000476398" "00005378" "90" "839" "0" "839" "0" "c.839G>A" "r.(?)" "p.(Arg280His)" "" "0000476398" "00025403" "90" "1046" "0" "1046" "0" "c.1046G>A" "r.(?)" "p.(Arg349His)" "" "0000476399" "00005378" "50" "706" "0" "706" "0" "c.706C>T" "r.(?)" "p.(Leu236Phe)" "" "0000476399" "00025403" "50" "913" "0" "913" "0" "c.913C>T" "r.(?)" "p.(Leu305Phe)" "" "0000476400" "00005378" "50" "665" "0" "665" "0" "c.665G>T" "r.(?)" "p.(Gly222Val)" "" "0000476400" "00025403" "50" "872" "0" "872" "0" "c.872G>T" "r.(?)" "p.(Gly291Val)" "" "0000476401" "00005378" "50" "653" "0" "653" "0" "c.653G>A" "r.(?)" "p.(Arg218Gln)" "" "0000476401" "00025403" "50" "860" "0" "860" "0" "c.860G>A" "r.(?)" "p.(Arg287Gln)" "" "0000476402" "00005378" "90" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218*)" "" "0000476402" "00025403" "90" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Arg287*)" "" "0000476403" "00005378" "50" "482" "0" "482" "0" "c.482C>T" "r.(?)" "p.(Ser161Leu)" "" "0000476403" "00025403" "50" "689" "0" "689" "0" "c.689C>T" "r.(?)" "p.(Ser230Leu)" "" "0000476404" "00005378" "50" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Glu154Lys)" "" "0000476404" "00025403" "50" "667" "0" "667" "0" "c.667G>A" "r.(?)" "p.(Glu223Lys)" "" "0000476405" "00005378" "10" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Asp118Asn)" "" "0000476405" "00025403" "10" "559" "0" "559" "0" "c.559G>A" "r.(?)" "p.(Asp187Asn)" "" "0000476406" "00005378" "50" "300" "-3" "300" "-3" "c.300-3T>C" "r.spl?" "p.?" "" "0000476406" "00025403" "50" "507" "-3" "507" "-3" "c.507-3T>C" "r.spl?" "p.?" "" "0000476407" "00005378" "90" "270" "0" "270" "0" "c.270del" "r.(?)" "p.(Phe90Leufs*3)" "" "0000476407" "00025403" "90" "477" "0" "477" "0" "c.477del" "r.(?)" "p.(Phe159Leufs*3)" "" "0000476408" "00005378" "50" "193" "0" "193" "0" "c.193del" "r.(?)" "p.(Ser65Profs*28)" "" "0000476408" "00025403" "50" "400" "0" "400" "0" "c.400del" "r.(?)" "p.(Ser134Profs*28)" "" "0000476409" "00005378" "50" "95" "0" "95" "0" "c.95G>A" "r.(?)" "p.(Arg32Gln)" "" "0000476409" "00025403" "50" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Arg101Gln)" "" "0000476410" "00005378" "90" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Arg32*)" "" "0000476410" "00025403" "90" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101*)" "" "0000476411" "00005378" "50" "41" "0" "41" "0" "c.41A>T" "r.(?)" "p.(Gln14Leu)" "" "0000476411" "00025403" "50" "248" "0" "248" "0" "c.248A>T" "r.(?)" "p.(Gln83Leu)" "" "0000476412" "00005378" "50" "-3" "10456" "-3" "10456" "c.-3+10456G>A" "r.(=)" "p.(=)" "" "0000476412" "00025403" "50" "164" "0" "164" "0" "c.164G>A" "r.(?)" "p.(Ser55Asn)" "" "0000477483" "00005378" "50" "1390" "0" "1390" "0" "c.1390del" "r.(?)" "p.(Glu464Lysfs*8)" "" "0000477483" "00025403" "50" "1597" "0" "1597" "0" "c.1597del" "r.(?)" "p.(Glu533Lysfs*8)" "" "0000477484" "00005378" "10" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Asp118Asn)" "" "0000477484" "00025403" "10" "559" "0" "559" "0" "c.559G>A" "r.(?)" "p.(Asp187Asn)" "" "0000477485" "00005378" "90" "265" "0" "265" "0" "c.265del" "r.(?)" "p.(Leu89Phefs*4)" "" "0000477485" "00025403" "90" "472" "0" "472" "0" "c.472del" "r.(?)" "p.(Leu158Phefs*4)" "" "0000478175" "00005378" "90" "300" "-1369" "8546" "0" "c.300-1369_*6473del" "r.?" "p.?" "" "0000522611" "00005378" "50" "1974" "0" "1974" "0" "c.1974A>G" "r.(?)" "p.(Arg658=)" "" "0000522611" "00025403" "50" "2181" "0" "2181" "0" "c.2181A>G" "r.(?)" "p.(Arg727=)" "" "0000522612" "00005378" "90" "1885" "0" "1885" "0" "c.1885C>T" "r.(?)" "p.(Arg629Ter)" "" "0000522612" "00025403" "90" "2092" "0" "2092" "0" "c.2092C>T" "r.(?)" "p.(Arg698Ter)" "" "0000522613" "00005378" "50" "1553" "0" "1553" "0" "c.1553T>G" "r.(?)" "p.(Ile518Ser)" "" "0000522613" "00025403" "50" "1760" "0" "1760" "0" "c.1760T>G" "r.(?)" "p.(Ile587Ser)" "" "0000522614" "00005378" "90" "1399" "0" "1399" "0" "c.1399del" "r.(?)" "p.(Ile467SerfsTer5)" "" "0000522614" "00025403" "90" "1606" "0" "1606" "0" "c.1606del" "r.(?)" "p.(Ile536SerfsTer5)" "" "0000522615" "00005378" "50" "1321" "0" "1321" "0" "c.1321C>G" "r.(?)" "p.(Leu441Val)" "" "0000522615" "00025403" "50" "1528" "0" "1528" "0" "c.1528C>G" "r.(?)" "p.(Leu510Val)" "" "0000522616" "00005378" "70" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "" "0000522616" "00025403" "70" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Ser389Phe)" "" "0000522617" "00005378" "90" "705" "0" "705" "0" "c.705dup" "r.(?)" "p.(Leu236ThrfsTer4)" "" "0000522617" "00025403" "90" "912" "0" "912" "0" "c.912dup" "r.(?)" "p.(Leu305ThrfsTer4)" "" "0000522618" "00005378" "50" "191" "0" "191" "0" "c.191G>T" "r.(?)" "p.(Gly64Val)" "" "0000522618" "00025403" "50" "398" "0" "398" "0" "c.398G>T" "r.(?)" "p.(Gly133Val)" "" "0000522619" "00005378" "30" "191" "0" "191" "0" "c.191G>T" "r.(?)" "p.(Gly64Val)" "" "0000522619" "00025403" "30" "398" "0" "398" "0" "c.398G>T" "r.(?)" "p.(Gly133Val)" "" "0000522620" "00005378" "70" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Arg32Ter)" "" "0000522620" "00025403" "70" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101Ter)" "" "0000522621" "00005378" "50" "-3" "10332" "-3" "10332" "c.-3+10332G>A" "r.(=)" "p.(=)" "" "0000522621" "00025403" "50" "40" "0" "40" "0" "c.40G>A" "r.(?)" "p.(Ala14Thr)" "" "0000522622" "00005378" "30" "-3" "10309" "-3" "10309" "c.-3+10309C>T" "r.(=)" "p.(=)" "" "0000522622" "00025403" "30" "17" "0" "17" "0" "c.17C>T" "r.(?)" "p.(Ser6Leu)" "" "0000522623" "00005378" "10" "-3" "10300" "-3" "10300" "c.-3+10300C>T" "r.(=)" "p.(=)" "" "0000522623" "00025403" "10" "8" "0" "8" "0" "c.8C>T" "r.(?)" "p.(Ser3Phe)" "" "0000522624" "00005378" "30" "-3" "10279" "-3" "10279" "c.-3+10279T>A" "r.(=)" "p.(=)" "" "0000522624" "00025403" "30" "1" "-14" "1" "-14" "c.1-14T>A" "r.(=)" "p.(=)" "" "0000522625" "00005378" "10" "-3" "10290" "-3" "10290" "c.-3+10290dup" "r.(=)" "p.(=)" "" "0000522625" "00025403" "10" "1" "-3" "1" "-3" "c.1-3dup" "r.spl?" "p.?" "" "0000609215" "00005378" "30" "372" "0" "372" "0" "c.372C>T" "r.(?)" "p.(Asn124=)" "" "0000609215" "00025403" "30" "579" "0" "579" "0" "c.579C>T" "r.(?)" "p.(Asn193=)" "" "0000609216" "00005378" "90" "265" "0" "265" "0" "c.265del" "r.(?)" "p.(Leu89PhefsTer4)" "" "0000609216" "00025403" "90" "472" "0" "472" "0" "c.472del" "r.(?)" "p.(Leu158PhefsTer4)" "" "0000651477" "00005378" "50" "1271" "0" "1271" "0" "c.1271G>A" "r.(?)" "p.(Arg424Gln)" "" "0000651477" "00025403" "50" "1478" "0" "1478" "0" "c.1478G>A" "r.(?)" "p.(Arg493Gln)" "" "0000651478" "00005378" "50" "95" "0" "95" "0" "c.95G>A" "r.(?)" "p.(Arg32Gln)" "" "0000651478" "00025403" "50" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Arg101Gln)" "" "0000655148" "00005378" "30" "360" "0" "360" "0" "c.360C>T" "r.(?)" "p.(Asn120=)" "" "0000655148" "00025403" "30" "567" "0" "567" "0" "c.567C>T" "r.(?)" "p.(Asn189=)" "" "0000655149" "00005378" "90" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Arg32Ter)" "" "0000655149" "00025403" "90" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101Ter)" "" "0000677279" "00005378" "30" "1419" "0" "1419" "0" "c.1419A>G" "r.(?)" "p.(Thr473=)" "" "0000677279" "00025403" "30" "1626" "0" "1626" "0" "c.1626A>G" "r.(?)" "p.(Thr542=)" "" "0000677280" "00005378" "50" "839" "0" "839" "0" "c.839G>C" "r.(?)" "p.(Arg280Pro)" "" "0000677280" "00025403" "50" "1046" "0" "1046" "0" "c.1046G>C" "r.(?)" "p.(Arg349Pro)" "" "0000677281" "00005378" "50" "531" "0" "531" "0" "c.531G>A" "r.(?)" "p.(Met177Ile)" "" "0000677281" "00025403" "50" "738" "0" "738" "0" "c.738G>A" "r.(?)" "p.(Met246Ile)" "" "0000677282" "00005378" "90" "361" "0" "361" "0" "c.361G>T" "r.(?)" "p.(Glu121Ter)" "" "0000677282" "00025403" "90" "568" "0" "568" "0" "c.568G>T" "r.(?)" "p.(Glu190Ter)" "" "0000684512" "00005378" "70" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "" "0000685112" "00025403" "70" "1838" "0" "1838" "0" "c.1838T>G" "r.(?)" "p.(Phe613Cys)" "" "0000685113" "00025403" "90" "1747" "0" "1747" "0" "c.1747C>T" "r.(?)" "p.(Arg583*)" "" "0000685114" "00025403" "70" "1263" "0" "1263" "0" "c.1263C>A" "r.(?)" "p.(Ser421Arg)" "" "0000685115" "00025403" "70" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Ser389Phe)" "" "0000685116" "00025403" "90" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Arg287*)" "" "0000685117" "00025403" "70" "722" "0" "722" "0" "c.722T>G" "r.(?)" "p.(Ile241Ser)" "" "0000685118" "00025403" "90" "524" "0" "524" "0" "c.524del" "r.(?)" "p.(Lys175Argfs*92)" "" "0000685119" "00025403" "90" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101*)" "" "0000689304" "00005378" "30" "39" "0" "39" "0" "c.39G>A" "r.(?)" "p.(Gln13=)" "" "0000689304" "00025403" "30" "246" "0" "246" "0" "c.246G>A" "r.(?)" "p.(Gln82=)" "" "0000689305" "00005378" "50" "-3" "10332" "-3" "10332" "c.-3+10332G>A" "r.(=)" "p.(=)" "" "0000689305" "00025403" "50" "40" "0" "40" "0" "c.40G>A" "r.(?)" "p.(Ala14Thr)" "" "0000713453" "00005378" "90" "1678" "0" "1678" "0" "c.1678C>T" "r.(?)" "p.(Arg560*)" "" "0000713453" "00025403" "90" "1885" "0" "1885" "0" "c.1885C>T" "r.(?)" "p.(Arg629*)" "" "0000713669" "00005378" "90" "1678" "0" "1678" "0" "c.1678C>T" "r.(?)" "p.(Arg560*)" "" "0000713669" "00025403" "90" "1885" "0" "1885" "0" "c.1885C>T" "r.(?)" "p.(Arg629*)" "" "0000713783" "00005378" "90" "1540" "0" "1540" "0" "c.1540C>T" "r.(?)" "p.(Arg514*)" "" "0000713783" "00025403" "90" "1747" "0" "1747" "0" "c.1747C>T" "r.(?)" "p.(Arg583*)" "" "0000719919" "00005378" "30" "-3" "10310" "-3" "10310" "c.-3+10310G>A" "r.(=)" "p.(=)" "" "0000719919" "00025403" "30" "18" "0" "18" "0" "c.18G>A" "r.(?)" "p.(Ser6=)" "" "0000729751" "00025403" "70" "1046" "0" "1046" "0" "c.1046G>A" "r.(?)" "p.(Arg349His)" "" "0000729786" "00025403" "90" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Arg287*)" "" "0000730208" "00025403" "90" "267" "0" "267" "0" "c.267del" "r.(?)" "p.(Asn90Metfs*2)" "" "0000730209" "00025403" "90" "267" "0" "267" "0" "c.267del" "r.(?)" "p.(Asn90Metfs*2)" "" "0000731542" "00025403" "90" "1962" "0" "1965" "0" "c.1962_1965del" "r.(?)" "p.(Thr655Serfs*17)" "" "0000731567" "00025403" "90" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Ser389Phe)" "" "0000732448" "00025403" "50" "1315" "0" "1315" "0" "c.1315G>A" "r.(?)" "p.(Val439Met)" "" "0000736074" "00025403" "70" "472" "0" "472" "0" "c.472del" "r.(?)" "p.(Leu158Phefs*4)" "" "0000760283" "00025403" "50" "1747" "0" "1747" "0" "c.1747C>T" "r.(?)" "p.(Arg583*)" "" "0000760313" "00025403" "50" "848" "0" "848" "0" "c.848A>T" "r.(?)" "p.(Asp283Val)" "" "0000760492" "00025403" "50" "1754" "0" "1754" "0" "c.1754T>G" "r.(?)" "p.(Met585Arg)" "" "0000764038" "00025403" "70" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101*)" "" "0000764064" "00025403" "70" "1037" "0" "1037" "0" "c.1037G>A" "r.(?)" "p.(Arg346Gln)" "" "0000765643" "00025403" "70" "1477" "0" "1477" "0" "c.1477C>T" "r.(?)" "p.(Arg493Ter)" "12" "0000765644" "00025403" "70" "472" "0" "472" "0" "c.472del" "r.(?)" "p.(Leu158PhefsTer4)" "5" "0000784148" "00025403" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000784291" "00025403" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000784361" "00025403" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000784392" "00025403" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000784393" "00025403" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000784429" "00025403" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000784470" "00025403" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000784502" "00025403" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000784518" "00025403" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000785460" "00025403" "90" "1298" "0" "1298" "0" "c.1298G>A" "r.(?)" "p.(Gly433Asp)" "" "0000785565" "00025403" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000785586" "00025403" "90" "398" "0" "398" "0" "c.398del" "r.(?)" "p.(Gly133ValfsTer29)" "" "0000786303" "00025403" "90" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101Ter)" "" "0000787628" "00025403" "70" "1271" "0" "1271" "0" "c.1271G>A" "r.(?)" "p.(Trp424Ter)" "" "0000788133" "00025403" "70" "1840" "0" "1840" "0" "c.1840G>A" "r.(?)" "p.(Gly614Ser)" "" "0000788134" "00025403" "70" "398" "0" "398" "0" "c.398del" "r.(?)" "p.(Gly133ValfsTer29)" "" "0000788135" "00025403" "70" "1046" "0" "1046" "0" "c.1046G>A" "r.(?)" "p.(Arg349His)" "" "0000788172" "00025403" "70" "1196" "0" "1196" "0" "c.1196A>G" "r.(?)" "p.(Asp399Gly)" "" "0000788371" "00025403" "70" "191" "0" "191" "0" "c.191del" "r.(?)" "p.(Ser64MetfsTer7)" "5" "0000788446" "00025403" "70" "1429" "0" "1429" "0" "c.1429del" "p.V477fs" "p.(Ala477GlnfsTer19)" "11" "0000788447" "00025403" "70" "267" "0" "267" "0" "c.267del" "r.(?)" "p.(Asn90MetfsTer2)" "6" "0000788458" "00025403" "70" "191" "0" "191" "0" "c.191del" "r.(?)" "p.(Ser64MetfsTer7)" "5" "0000788510" "00025403" "70" "267" "0" "267" "0" "c.267del" "r.(?)" "p.(Asn90MetfsTer2)" "6" "0000789702" "00025403" "70" "1271" "0" "1271" "0" "c.1271G>A" "r.(?)" "p.(Trp424*)" "10" "0000790146" "00025403" "50" "225" "-33" "225" "-33" "c.225-33C>T" "r.spl?" "p.?" "2i" "0000790578" "00025403" "50" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(?)" "" "0000790590" "00025403" "50" "728" "0" "728" "0" "c.728T>A" "r.(?)" "p.(?)" "" "0000791178" "00025403" "90" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101*)" "5" "0000791553" "00025403" "70" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101*)" "5" "0000791565" "00025403" "70" "338" "0" "338" "0" "c.338del" "r.(?)" "p.(Glu113Glyfs*49)" "6" "0000792044" "00025403" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "2" "0000792045" "00025403" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "2" "0000792084" "00025403" "10" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "2" "0000792085" "00025403" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "2" "0000792086" "00025403" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000792087" "00025403" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "2" "0000793747" "00025403" "10" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "2" "0000794076" "00005378" "70" "265" "0" "265" "0" "c.265del" "r.(?)" "p.(Leu89Phefs*4)" "" "0000794076" "00025403" "70" "472" "0" "472" "0" "c.472del" "r.(?)" "p.(Leu158Phefs*4)" "" "0000794077" "00005378" "70" "191" "0" "191" "0" "c.191del" "r.(?)" "p.(Gly64Valfs*29)" "" "0000794077" "00025403" "70" "398" "0" "398" "0" "c.398delG" "r.(?)" "p.(Gly133Valfs*29)" "" "0000794298" "00025403" "90" "472" "0" "472" "0" "c.472del" "r.(?)" "p.(Leu158Phefs*4)" "6" "0000794851" "00025403" "70" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101*)" "" "0000794852" "00025403" "70" "1747" "0" "1747" "0" "c.1747C>T" "r.(?)" "p.(Arg583*)" "" "0000794853" "00025403" "70" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101*)" "" "0000794854" "00025403" "70" "1747" "0" "1747" "0" "c.1747C>T" "r.(?)" "p.(Arg583*)" "" "0000795945" "00025403" "90" "472" "0" "472" "0" "c.472del" "r.(?)" "p.(Leu158Phefs*4)" "5" "0000796720" "00025403" "90" "1036" "0" "1036" "0" "c.1036C>T" "r.(?)" "p.(Arg346Trp)" "10" "0000796721" "00025403" "90" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Ser389Phe)" "10" "0000796750" "00025403" "90" "2195" "0" "2195" "0" "c.2195A>G" "r.(?)" "p.(Glu732Gly)" "10" "0000796894" "00025403" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "2" "0000796895" "00025403" "90" "1885" "0" "1885" "0" "c.1885C>T" "r.(?)" "p.(Arg629*)" "10" "0000797089" "00025403" "50" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Ser389Phe)" "10" "0000797160" "00025403" "50" "1280" "0" "1280" "0" "c.1280T>C" "r.(?)" "p.(Leu427Pro)" "10" "0000797975" "00025403" "70" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Ser389Phe)" "" "0000797976" "00025403" "70" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Ser389Phe)" "" "0000797978" "00025403" "70" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Ser389Phe)" "" "0000811812" "00005378" "70" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "" "0000811871" "00025403" "70" "472" "0" "472" "0" "c.472del" "r.(?)" "p.(Leu158Phefs*4)" "" "0000812100" "00005378" "70" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Arg32*)" "4" "0000812177" "00005378" "70" "1540" "0" "1540" "0" "c.1540C>T" "r.(?)" "p.(Arg514*)" "11" "0000812178" "00005378" "70" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Arg32*)" "4" "0000812250" "00005378" "70" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Arg32*)" "4" "0000812267" "00005378" "70" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Arg32*)" "4" "0000812308" "00005378" "70" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Arg32*)" "4" "0000812311" "00005378" "70" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "11" "0000812312" "00025403" "70" "1734" "0" "1734" "0" "c.1734del" "r.(?)" "p.(Asp579Metfs*7)" "11" "0000812331" "00025403" "70" "839" "0" "839" "0" "c.839G>A" "r.(?)" "p.(Arg280His)" "11" "0000813180" "00025403" "70" "1151" "0" "1151" "0" "c.1151T>C" "r.(?)" "p.I384T" "10" "0000813194" "00025403" "30" "372" "0" "372" "0" "c.372C>T" "r.(?)" "p.N124N" "4" "0000813195" "00025403" "30" "495" "0" "495" "0" "c.495T>C" "r.(?)" "p.Y165Y" "5" "0000813196" "00025403" "30" "1834" "0" "1834" "0" "c.1834A>C" "r.(?)" "p.N612H" "10" "0000814755" "00005378" "90" "622" "0" "622" "0" "c.622G>A" "r.(?)" "p.(Asp208Asn)" "" "0000814755" "00025403" "90" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Asp277Asn)" "9" "0000814763" "00005378" "90" "265" "0" "265" "0" "c.265del" "r.(?)" "p.(Leu89Phefs*4)" "" "0000814763" "00025403" "90" "472" "0" "472" "0" "c.472del" "r.(?)" "p.(Leu158Phefs*4)" "5" "0000814797" "00005378" "90" "265" "0" "265" "0" "c.265del" "r.(?)" "p.(Leu89Phefs*4)" "" "0000814797" "00025403" "90" "472" "0" "472" "0" "c.472del" "r.(?)" "p.(Leu158Phefs*4)" "5" "0000815435" "00005378" "50" "1070" "0" "1070" "0" "c.1070C>T" "r.(?)" "p.(Thr357Ile)" "" "0000815435" "00025403" "50" "1277" "0" "1277" "0" "c.1277C>T" "r.(?)" "p.(Thr426Ile)" "" "0000815526" "00005378" "50" "1916" "0" "1916" "0" "c.1916C>T" "r.(?)" "p.(Thr639Ile)" "" "0000815526" "00025403" "50" "2123" "0" "2123" "0" "c.2123C>T" "r.(?)" "p.(Thr708Ile)" "" "0000815580" "00005378" "70" "96" "0" "96" "0" "c.96dup" "r.(?)" "p.(Arg33Lysfs*12)" "" "0000815580" "00025403" "70" "304" "0" "304" "0" "c.304dup" "r.(?)" "p.(Arg102Lysfs*12)" "" "0000815617" "00005378" "70" "1685" "0" "1685" "0" "c.1685C>T" "r.(?)" "p.(Thr562Met)" "" "0000815617" "00025403" "70" "1892" "0" "1892" "0" "c.1892C>T" "r.(?)" "p.(Thr631Met)" "" "0000816001" "00025403" "90" "1747" "0" "1747" "0" "c.1747C>T" "r.(?)" "p.(Arg583*)" "" "0000816006" "00025403" "90" "1747" "0" "1747" "0" "c.1747C>T" "r.(?)" "p.(Arg583*)" "" "0000816019" "00025403" "50" "1718" "0" "1718" "0" "c.1718A>G" "r.(?)" "p.(Asp573Gly)" "" "0000816344" "00025403" "90" "804" "0" "804" "0" "c.804T>G" "r.(?)" "p.(Tyr268*)" "" "0000816347" "00025403" "90" "1747" "0" "1747" "0" "c.1747C>T" "r.(?)" "p.(Arg583*)" "" "0000816362" "00025403" "90" "1907" "0" "1907" "0" "c.1907del" "r.(?)" "p.(Ser636Ilefs*19)" "" "0000819382" "00005378" "70" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "" "0000819382" "00025403" "70" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "" "0000820032" "00005378" "70" "1133" "0" "1133" "0" "c.1133T>C" "r.(?)" "p.(Val378Ala)" "" "0000820032" "00025403" "70" "1133" "0" "1133" "0" "c.1133T>C" "r.(?)" "p.(Val378Ala)" "" "0000820251" "00005378" "70" "1678" "0" "1678" "0" "c.1678C>T" "r.(?)" "p.(Arg560*)" "" "0000820251" "00025403" "70" "1678" "0" "1678" "0" "c.1678C>T" "r.(?)" "p.(Arg560*)" "" "0000820443" "00005378" "70" "1056" "0" "1056" "0" "c.1056C>A" "r.(?)" "p.(Ser352Arg)" "" "0000820443" "00025403" "70" "1056" "0" "1056" "0" "c.1056C>A" "r.(?)" "p.(Ser352Arg)" "" "0000820471" "00005378" "70" "1218" "0" "1222" "0" "c.1218_1222del" "r.(?)" "p.(Ala408Ilefs*6)" "" "0000820471" "00025403" "70" "1222" "0" "1226" "0" "c.1222_1226del" "r.(?)" "p.(Ala408Ilefs*6)" "" "0000820473" "00005378" "70" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "" "0000820473" "00025403" "70" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "" "0000820629" "00005378" "70" "1105" "0" "1105" "0" "c.1105C>A" "r.(?)" "p.(Pro369Thr)" "" "0000820629" "00025403" "70" "1105" "0" "1105" "0" "c.1105C>A" "r.(?)" "p.(Pro369Thr)" "" "0000820931" "00005378" "70" "1040" "0" "1040" "0" "c.1040G>C" "r.(?)" "p.(Arg347Thr)" "" "0000820931" "00025403" "70" "1040" "0" "1040" "0" "c.1040G>C" "r.(?)" "p.(Arg347Thr)" "" "0000821211" "00005378" "90" "1540" "0" "1540" "0" "c.1540C>T" "r.(?)" "p.(Arg514*)" "" "0000821211" "00025403" "90" "1747" "0" "1747" "0" "c.1747C>T" "r.(?)" "p.(Arg583*)" "" "0000821212" "00005378" "90" "1678" "0" "1678" "0" "c.1678C>T" "r.(?)" "p.(Arg560*)" "" "0000821212" "00025403" "90" "1885" "0" "1885" "0" "c.1885C>T" "r.(?)" "p.(Arg629*)" "" "0000821536" "00005378" "90" "1678" "0" "1678" "0" "c.1678C>T" "r.(?)" "p.(Arg560*)" "" "0000821536" "00025403" "90" "1885" "0" "1885" "0" "c.1885C>T" "r.(?)" "p.(Arg629*)" "" "0000822088" "00025403" "70" "947" "0" "947" "0" "c.947C>T" "r.(?)" "p.?" "10" "0000822943" "00005378" "70" "828" "0" "828" "0" "c.828dup" "r.(?)" "p.(Arg277Thrfs*7)" "" "0000822943" "00025403" "70" "1035" "0" "1035" "0" "c.1035dup" "r.(?)" "p.(Arg346Thrfs*7)" "" "0000824649" "00005378" "90" "-3" "10483" "-3" "10483" "c.-3+10483del" "r.(=)" "p.(=)" "" "0000824649" "00025403" "90" "191" "0" "191" "0" "c.191del" "r.(?)" "p.(Ser64MetfsTer7)" "" "0000825874" "00025403" "70" "267" "0" "267" "0" "c.267del" "r.(?)" "p.(Asn90Metfs*2)" "3" "0000825994" "00025403" "70" "267" "0" "267" "0" "c.267del" "r.(?)" "p.(Asn90Metfs*2)" "3" "0000826030" "00025403" "70" "267" "0" "267" "0" "c.267del" "r.(?)" "p.(Asn90Metfs*2)" "3" "0000826047" "00025403" "70" "267" "0" "267" "0" "c.267del" "r.(?)" "p.(Asn90Metfs*2)" "3" "0000826116" "00025403" "70" "538" "0" "538" "0" "c.538T>C" "r.(?)" "p.?" "6" "0000826117" "00025403" "70" "267" "0" "267" "0" "c.267del" "r.(?)" "p.(Asn90Metfs*2)" "3" "0000826177" "00025403" "70" "267" "0" "267" "0" "c.267del" "r.(?)" "p.(Asn90Metfs*2)" "3" "0000826178" "00025403" "70" "1238" "0" "1238" "0" "c.1238G>T" "r.(?)" "p.(Arg413Leu)" "10" "0000826188" "00025403" "70" "267" "0" "267" "0" "c.267del" "r.(?)" "p.(Asn90Metfs*2)" "3" "0000826338" "00025403" "70" "839" "0" "839" "0" "c.839G>A" "r.(?)" "p.?" "9" "0000826339" "00025403" "70" "267" "0" "267" "0" "c.267del" "r.(?)" "p.(Asn90Metfs*2)" "3" "0000827200" "00025403" "50" "1546" "0" "1546" "0" "c.1546dup" "r.(?)" "p.(Thr516Asnfs*3)" "10" "0000827201" "00025403" "50" "1747" "0" "1747" "0" "c.1747C>T" "r.(?)" "p.(Arg583*)" "10" "0000827202" "00025403" "50" "1747" "0" "1747" "0" "c.1747C>T" "r.(?)" "p.(Arg583*)" "10" "0000827203" "00025403" "50" "1962" "0" "1965" "0" "c.1962_1965del" "r.(?)" "p.(Thr655Serfs*17)" "10" "0000827204" "00025403" "90" "657" "-2" "657" "-2" "c.657-2A>G" "r.spl?" "p.?" "7i" "0000829823" "00025403" "90" "267" "0" "267" "0" "c.267del" "r.(?)" "p.(Asn90Metfs*2)" "3" "0000829878" "00025403" "90" "191" "0" "191" "0" "c.191del" "r.(?)" "p.(Ser64Metfs*7)" "2" "0000829879" "00025403" "90" "267" "0" "267" "0" "c.267del" "r.(?)" "p.(Asn90Metfs*2)" "3" "0000829880" "00025403" "90" "267" "0" "267" "0" "c.267del" "r.(?)" "p.(Asn90Metfs*2)" "3" "0000829891" "00025403" "90" "191" "0" "191" "0" "c.191del" "r.(?)" "p.(Ser64Metfs*7)" "2" "0000829892" "00025403" "90" "267" "0" "267" "0" "c.267del" "r.(?)" "p.(Asn90Metfs*2)" "3" "0000829911" "00025403" "90" "191" "0" "191" "0" "c.191del" "r.(?)" "p.(Ser64Metfs*7)" "2" "0000829988" "00025403" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "2" "0000847763" "00005378" "70" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Arg32*)" "" "0000847763" "00025403" "70" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101*)" "6" "0000847764" "00005378" "70" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Arg32*)" "" "0000847764" "00025403" "70" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg101*)" "6" "0000847765" "00005378" "70" "405" "0" "406" "0" "c.405_406del" "r.(?)" "p.(Lys137Glufs*10)" "" "0000847765" "00025403" "70" "614" "0" "615" "0" "c.614_615del" "r.(?)" "p.(Ile205Serfs*26)" "6" "0000847766" "00005378" "70" "405" "0" "406" "0" "c.405_406del" "r.(?)" "p.(Lys137Glufs*10)" "" "0000847766" "00025403" "70" "614" "0" "615" "0" "c.614_615del" "r.(?)" "p.(Ile205Serfs*26)" "6" "0000847767" "00005378" "70" "405" "0" "406" "0" "c.405_406del" "r.(?)" "p.(Lys137Glufs*10)" "" "0000847767" "00025403" "70" "614" "0" "615" "0" "c.614_615del" "r.(?)" "p.(Ile205Serfs*26)" "6" "0000847768" "00005378" "70" "405" "0" "406" "0" "c.405_406del" "r.(?)" "p.(Lys137Glufs*10)" "" "0000847768" "00025403" "70" "614" "0" "615" "0" "c.614_615del" "r.(?)" "p.(Ile205Serfs*26)" "6" "0000847769" "00005378" "70" "405" "0" "406" "0" "c.405_406del" "r.(?)" "p.(Lys137Glufs*10)" "" "0000847769" "00025403" "70" "614" "0" "615" "0" "c.614_615del" "r.(?)" "p.(Ile205Serfs*26)" "6" "0000847770" "00005378" "70" "405" "0" "406" "0" "c.405_406del" "r.(?)" "p.(Lys137Glufs*10)" "" "0000847770" "00025403" "70" "614" "0" "615" "0" "c.614_615del" "r.(?)" "p.(Ile205Serfs*26)" "6" "0000847771" "00005378" "70" "405" "0" "406" "0" "c.405_406del" "r.(?)" "p.(Lys137Glufs*10)" "" "0000847771" "00025403" "70" "614" "0" "615" "0" "c.614_615del" "r.(?)" "p.(Ile205Serfs*26)" "6" "0000847772" "00005378" "70" "1537" "0" "1537" "0" "c.1537G>A" "r.(?)" "p.(Gly513Arg)" "" "0000847772" "00025403" "70" "1744" "0" "1744" "0" "c.1744G>A" "r.(?)" "p.(Gly582Arg)" "" "0000847773" "00005378" "70" "1537" "0" "1537" "0" "c.1537G>A" "r.(?)" "p.(Gly513Arg)" "" "0000847773" "00025403" "70" "1744" "0" "1744" "0" "c.1744G>A" "r.(?)" "p.(Gly582Arg)" "" "0000847774" "00005378" "70" "265" "0" "265" "0" "c.265del" "r.(?)" "p.(Leu89Phefs*4)" "" "0000847774" "00025403" "70" "472" "0" "472" "0" "c.472del" "r.(?)" "p.(Leu158Phefs*4)" "" "0000847775" "00005378" "70" "265" "0" "265" "0" "c.265del" "r.(?)" "p.(Leu89Phefs*4)" "" "0000847775" "00025403" "70" "472" "0" "472" "0" "c.472del" "r.(?)" "p.(Leu158Phefs*4)" "" "0000847776" "00005378" "70" "265" "0" "265" "0" "c.265del" "r.(?)" "p.(Leu89Phefs*4)" "" "0000847776" "00025403" "70" "472" "0" "472" "0" "c.472del" "r.(?)" "p.(Leu158Phefs*4)" "6" "0000847777" "00005378" "70" "265" "0" "265" "0" "c.265del" "r.(?)" "p.(Leu89Phefs*4)" "" "0000847777" "00025403" "70" "472" "0" "472" "0" "c.472del" "r.(?)" "p.(Leu158Phefs*4)" "6" "0000847778" "00005378" "70" "246" "0" "246" "0" "c.246C>A" "r.(?)" "p.(Tyr82*)" "" "0000847778" "00025403" "70" "453" "0" "453" "0" "c.453C>A" "r.(?)" "p.(Tyr151*)" "6" "0000847779" "00005378" "70" "246" "0" "246" "0" "c.246C>A" "r.(?)" "p.(Tyr82*)" "" "0000847779" "00025403" "70" "453" "0" "453" "0" "c.453C>A" "r.(?)" "p.(Tyr151*)" "6" "0000847781" "00005378" "70" "622" "0" "622" "0" "c.622G>A" "r.(?)" "p.(Asp208Asn)" "" "0000847781" "00025403" "70" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Asp277Asn)" "9" "0000847782" "00005378" "70" "265" "0" "265" "0" "c.265del" "r.(?)" "p.(Leu89Phefs*4)" "" "0000847782" "00025403" "70" "472" "0" "472" "0" "c.472del" "r.(?)" "p.(Leu158Phefs*4)" "6" "0000850617" "00005378" "50" "1951" "0" "1951" "0" "c.1951A>G" "r.(?)" "p.(Met651Val)" "" "0000850617" "00025403" "50" "2158" "0" "2158" "0" "c.2158A>G" "r.(?)" "p.(Met720Val)" "" "0000850618" "00005378" "50" "1609" "0" "1609" "0" "c.1609G>A" "r.(?)" "p.(Val537Ile)" "" "0000850618" "00025403" "50" "1816" "0" "1816" "0" "c.1816G>A" "r.(?)" "p.(Val606Ile)" "" "0000850619" "00005378" "30" "39" "0" "39" "0" "c.39G>A" "r.(?)" "p.(Gln13=)" "" "0000850619" "00025403" "30" "246" "0" "246" "0" "c.246G>A" "r.(?)" "p.(Gln82=)" "" "0000859441" "00005378" "30" "-3" "10420" "-3" "10420" "c.-3+10420A>G" "r.(=)" "p.(=)" "" "0000859441" "00025403" "30" "128" "0" "128" "0" "c.128A>G" "r.(?)" "p.(His43Arg)" "" "0000873535" "00025403" "70" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Asp277Asn)" "" "0000873536" "00025403" "70" "472" "0" "472" "0" "c.472del" "r.(?)" "p.(Leu158Phefs*4)" "" "0000886290" "00005378" "90" "1540" "0" "1540" "0" "c.1540C>T" "r.(?)" "p.(Arg514Ter)" "" "0000886290" "00025403" "90" "1747" "0" "1747" "0" "c.1747C>T" "r.(?)" "p.(Arg583Ter)" "" "0000886291" "00005378" "30" "1271" "0" "1271" "0" "c.1271G>A" "r.(?)" "p.(Arg424Gln)" "" "0000886291" "00025403" "30" "1478" "0" "1478" "0" "c.1478G>A" "r.(?)" "p.(Arg493Gln)" "" "0000886292" "00005378" "10" "1031" "0" "1031" "0" "c.1031G>A" "r.(?)" "p.(Arg344His)" "" "0000886292" "00025403" "10" "1238" "0" "1238" "0" "c.1238G>A" "r.(?)" "p.(Arg413His)" "" "0000886293" "00005378" "90" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218*)" "" "0000886293" "00025403" "90" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Arg287*)" "" "0000905904" "00005378" "90" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "" "0000905904" "00025403" "90" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Ser389Phe)" "" "0000915938" "00025403" "70" "1027" "0" "1027" "0" "c.1027A>G" "r.(?)" "p.(Arg343Gly)" "10" "0000916076" "00025403" "90" "1528" "0" "1528" "0" "c.1528C>T" "r.(=)" "p.(Arg510*)" "10" "0000916093" "00025403" "90" "1528" "0" "1528" "0" "c.1528C>T" "r.(=)" "p.(Arg510*)" "10" "0000916094" "00025403" "70" "288" "-1" "652" "1" "c.(287+1_288-1)_(652+1_653-1)del" "r.?" "p.(Glu97Leufs*13)" "" "0000916124" "00025403" "90" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Arg28*)" "2" "0000916125" "00025403" "90" "1528" "0" "1528" "0" "c.1528C>T" "r.(=)" "p.(Arg510*)" "10" "0000916672" "00025403" "70" "1075" "0" "1075" "0" "c.1075dup" "r.(?)" "p.(Thr359Asnfs*34)" "10" "0000916673" "00025403" "90" "1747" "0" "1747" "0" "c.1747C>T" "r.(?)" "p.(Arg583*)" "10" "0000916691" "00025403" "70" "1701" "0" "1701" "0" "c.1701del" "r.(?)" "p.(Val568Serfs*40)" "10" "0000916709" "00025403" "90" "253" "0" "253" "0" "c.253del" "r.(?)" "p.(Leu85Phefs*4)" "3" "0000933367" "00005378" "90" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218*)" "" "0000933367" "00025403" "90" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Arg287*)" "" "0000933368" "00005378" "50" "1065" "0" "1065" "0" "c.1065G>C" "r.(?)" "p.(Trp355Cys)" "" "0000933368" "00025403" "50" "1272" "0" "1272" "0" "c.1272G>C" "r.(?)" "p.(Trp424Cys)" "" "0000958042" "00025403" "90" "301" "0" "301" "0" "c.301C>T" "r.(?)" "p.(Arg32Ter)" "" "0000958043" "00025403" "70" "" "0" "" "0" "c.300-1369_*444{0}" "r.?" "p.?" "" "0000959032" "00025403" "90" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Ser320Phe)" "" "0000959038" "00025403" "70" "" "0" "" "0" "c.-141_-111+9799{2}" "r.?" "p.?" "" "0000959344" "00025403" "90" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Ser320Phe)" "" "0000959473" "00025403" "90" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Ser320Phe)" "" "0000994310" "00005378" "30" "354" "0" "354" "0" "c.354T>A" "r.(?)" "p.(Asp118Glu)" "" "0000994310" "00025403" "30" "561" "0" "561" "0" "c.561T>A" "r.(?)" "p.(Asp187Glu)" "" "0001013969" "00005378" "70" "959" "0" "959" "0" "c.959C>T" "r.(?)" "p.(Ser320Phe)" "" "0001013969" "00025403" "70" "1166" "0" "1166" "0" "c.1166C>T" "r.(?)" "p.(Ser389Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 225 "{{screeningid}}" "{{variantid}}" "0000001608" "0000019511" "0000001608" "0000019512" "0000096350" "0000158343" "0000144825" "0000784148" "0000156284" "0000358206" "0000156284" "0000358419" "0000233679" "0000476387" "0000233680" "0000476388" "0000233681" "0000476389" "0000233682" "0000476390" "0000233683" "0000476391" "0000233684" "0000476392" "0000233685" "0000476393" "0000233686" "0000476394" "0000233687" "0000476395" "0000233688" "0000476396" "0000233689" "0000476397" "0000233690" "0000476398" "0000233691" "0000476399" "0000233692" "0000476400" "0000233693" "0000476401" "0000233694" "0000476402" "0000233695" "0000476403" "0000233696" "0000476404" "0000233697" "0000476405" "0000233698" "0000476406" "0000233699" "0000476407" "0000233700" "0000476408" "0000233701" "0000476409" "0000233702" "0000476410" "0000233703" "0000476411" "0000233704" "0000476412" "0000234775" "0000477483" "0000234776" "0000477484" "0000234777" "0000477485" "0000235421" "0000478175" "0000294788" "0000651477" "0000294789" "0000651478" "0000309639" "0000684512" "0000310201" "0000685112" "0000310202" "0000685113" "0000310203" "0000685114" "0000310204" "0000685115" "0000310205" "0000685116" "0000310206" "0000685117" "0000310207" "0000685118" "0000310208" "0000685119" "0000329330" "0000713453" "0000329330" "0000713783" "0000329546" "0000713669" "0000332496" "0000729751" "0000332496" "0000729786" "0000332920" "0000730208" "0000332921" "0000730209" "0000333752" "0000731542" "0000333752" "0000731567" "0000334577" "0000732448" "0000336629" "0000736074" "0000360391" "0000760283" "0000360421" "0000760313" "0000360421" "0000760492" "0000363400" "0000764038" "0000363400" "0000764064" "0000364739" "0000765643" "0000364740" "0000765644" "0000373855" "0000784393" "0000373888" "0000784392" "0000373897" "0000784518" "0000373903" "0000784361" "0000373907" "0000784502" "0000373920" "0000784429" "0000373947" "0000784470" "0000373978" "0000784291" "0000374647" "0000785460" "0000374740" "0000785565" "0000374740" "0000785586" "0000375042" "0000786303" "0000376095" "0000787628" "0000376525" "0000788133" "0000376526" "0000788134" "0000376526" "0000788172" "0000376527" "0000788135" "0000376608" "0000788371" "0000376622" "0000788446" "0000376622" "0000788447" "0000376624" "0000788458" "0000376631" "0000788510" "0000377383" "0000789702" "0000377721" "0000790146" "0000377981" "0000790578" "0000377988" "0000790590" "0000378423" "0000791178" "0000378704" "0000791553" "0000378704" "0000791565" "0000379019" "0000792044" "0000379019" "0000792045" "0000379040" "0000792084" "0000379041" "0000792085" "0000379041" "0000792086" "0000379042" "0000792087" "0000380599" "0000793747" "0000380859" "0000794076" "0000380859" "0000794077" "0000381022" "0000794298" "0000381411" "0000794851" "0000381411" "0000794852" "0000381412" "0000794853" "0000381412" "0000794854" "0000382229" "0000795945" "0000382837" "0000796720" "0000382837" "0000796721" "0000382851" "0000796750" "0000382929" "0000796894" "0000382929" "0000796895" "0000383097" "0000797089" "0000383097" "0000797160" "0000383733" "0000797975" "0000383734" "0000797976" "0000383735" "0000797978" "0000384971" "0000811812" "0000385030" "0000811871" "0000385191" "0000812100" "0000385237" "0000812177" "0000385238" "0000812178" "0000385282" "0000812250" "0000385294" "0000812267" "0000385320" "0000812308" "0000385322" "0000812311" "0000385322" "0000812312" "0000385330" "0000812331" "0000385965" "0000813180" "0000385977" "0000813194" "0000385978" "0000813195" "0000385979" "0000813196" "0000386932" "0000814755" "0000386932" "0000814797" "0000386940" "0000814763" "0000387403" "0000815580" "0000387440" "0000815435" "0000387484" "0000815617" "0000387493" "0000815526" "0000387843" "0000816001" "0000387843" "0000816344" "0000387848" "0000816006" "0000387848" "0000816347" "0000387861" "0000816019" "0000387861" "0000816362" "0000390037" "0000819382" "0000390037" "0000820629" "0000390687" "0000820032" "0000390906" "0000820251" "0000391098" "0000820443" "0000391126" "0000820471" "0000391126" "0000820931" "0000391128" "0000820473" "0000391462" "0000821211" "0000391462" "0000821536" "0000391463" "0000821212" "0000392018" "0000822088" "0000392600" "0000822943" "0000393827" "0000824649" "0000394826" "0000825874" "0000394908" "0000825994" "0000394931" "0000826030" "0000394940" "0000826047" "0000394982" "0000826116" "0000394982" "0000826117" "0000395023" "0000826177" "0000395023" "0000826178" "0000395029" "0000826188" "0000395127" "0000826338" "0000395127" "0000826339" "0000395796" "0000827200" "0000395796" "0000827201" "0000395797" "0000827202" "0000395798" "0000827203" "0000395799" "0000827204" "0000397737" "0000829988" "0000397742" "0000829823" "0000397789" "0000829878" "0000397789" "0000829879" "0000397791" "0000829880" "0000397813" "0000829891" "0000397813" "0000829892" "0000397837" "0000829911" "0000410471" "0000847763" "0000410472" "0000847764" "0000410473" "0000847765" "0000410474" "0000847766" "0000410475" "0000847767" "0000410476" "0000847768" "0000410477" "0000847769" "0000410478" "0000847770" "0000410479" "0000847771" "0000410480" "0000847772" "0000410480" "0000847774" "0000410481" "0000847773" "0000410481" "0000847775" "0000410482" "0000847776" "0000410482" "0000847778" "0000410483" "0000847777" "0000410483" "0000847779" "0000410485" "0000847781" "0000410485" "0000847782" "0000415681" "0000873535" "0000415681" "0000873536" "0000428239" "0000905904" "0000431009" "0000915938" "0000431109" "0000916076" "0000431124" "0000916093" "0000431124" "0000916094" "0000431141" "0000916124" "0000431141" "0000916125" "0000431489" "0000916672" "0000431489" "0000916673" "0000431501" "0000916691" "0000431516" "0000916709" "0000437912" "0000933367" "0000437912" "0000933368" "0000448556" "0000958042" "0000448557" "0000958043" "0000449143" "0000959344" "0000449265" "0000959032" "0000449271" "0000959038" "0000449288" "0000959473"