### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PROM1) # 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}}" "PROM1" "prominin 1" "4" "p15" "unknown" "NG_011696.1" "UD_129543507479" "" "http://www.LOVD.nl/PROM1" "" "1" "9454" "8842" "604365" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/PROM1_NM_006017.2_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2009-10-13 00:00:00" "00006" "2017-01-26 21:42:30" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00016885" "PROM1" "transcript variant 1" "007" "NM_006017.2" "" "NP_006008.1" "" "" "" "-212" "3765" "2598" "16077741" "15969849" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00058" "CORD" "dystrophy, cone-rod (CORD)" "" "" "" "" "" "00006" "2012-09-22 11:31:25" "00006" "2020-08-30 09:43:59" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00381" "RD" "dystrophy, retinal (RD)" "" "" "" "" "" "00006" "2014-05-09 11:59:52" "00006" "2015-12-07 07:11:25" "02467" "STGD4" "Stargardt disease, type 4 (STGD-4)" "AD" "603786" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02732" "MCDR2" "dystrophy, macular, retinal, type 2 (MCDR2, Bull\'s eye macular dystrophy)" "AD" "608051" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-07-28 14:30:25" "02733" "ARPHM;PVNH2" "heterotopia, periventricular, autosomal recessive (ARPHM, periventricular heterotopia type 2 (PVNH-2))" "AR" "608097" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02952" "PPROM" "preterm premature rupture of membranes (PPROM)" "" "610504" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2016-03-20 12:15:43" "03087" "RP41" "retinitis pigmentosa, type 41 (RP41)" "AR" "612095" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03176" "CORD12" "dystrophy, cone-rod, type 12 (CORD-12)" "AD;AR" "612657" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03257" "CACD2" "dystrophy, choroidal, areolar, central, type 2 (CACD2)" "AD" "613105" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-12-17 16:26:44" "04210" "LCA" "Leber congenital amaurosis (LCA)" "" "" "" "" "" "00006" "2015-02-27 18:57:11" "" "" "04211" "RPar" "retinitis pigmentosa, autosomal recessive (RPar)" "" "" "" "" "" "00006" "2015-02-27 18:58:57" "" "" "04213" "COD" "dystrophy, cone (COD)" "" "" "" "" "" "00006" "2015-02-27 19:22:18" "" "" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04215" "STGD" "Stargardt disease (STGD)" "" "" "" "" "" "00006" "2015-02-27 20:01:12" "" "" "04249" "macular dystrophy" "dystrophy, macular" "" "" "" "" "" "00006" "2015-05-04 22:10:58" "00006" "2024-02-15 21:18:39" "05412" "maculopathy" "maculopathy" "" "" "" "" "" "00006" "2018-03-23 12:21:26" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "PROM1" "02467" "PROM1" "02732" "PROM1" "03087" "PROM1" "03176" ## Individuals ## Do not remove or alter this header ## ## Count = 520 "{{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}}" "00001804" "" "" "" "1" "" "00102" "" "" "" "" "(United States)" "" "0" "" "" "" "" "00001807" "" "" "" "1" "" "00102" "" "" "" "" "(United States)" "" "0" "" "" "" "" "00016607" "" "" "" "1" "" "00552" "" "" "" "" "" "" "0" "" "" "" "" "00032824" "" "" "" "4" "" "00223" "{PMID:Maw 2000:10587575}" "" "" "" "India" "" "0" "" "" "Indian" "" "00032825" "" "" "" "6" "" "00223" "{PMID:Zhang 2007:17605048}" "" "" "" "Pakistan" "" "0" "" "" "Pundjab" "" "00032826" "" "" "" "23" "" "00223" "{PMID:Kniazeva 1999:10205271}" "" "" "" "" "" "0" "" "" "Caribbean" "" "00032827" "" "" "" "10" "" "00223" "{PMID:Michaelides 2003:12657606}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "British" "" "00032828" "" "" "" "8" "" "00223" "Michaelides et al., Submitted" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00032829" "" "" "" "3" "" "00223" "Michaelides et al., Submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "British" "" "00032830" "" "" "" "3" "" "00223" "Michaelides et al., Submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "British" "" "00032831" "" "" "" "3" "" "00223" "{PMID:Pras 2009:19718270}" "" "" "" "" "" "0" "" "" "Arabic" "" "00033105" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00033141" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00033147" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" "" "00033351" "" "" "" "1" "" "00039" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "" "" "0" "" "" "" "" "00033679" "" "" "" "2" "" "01244" "{PMID:de Castro-Miró 2014:24516651}" "" "" "?" "Spain" "" "0" "" "" "" "" "00095946" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "61037" "00155525" "" "" "" "2" "" "01243" "Sharon, submitted" "" "M" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "" "00155526" "" "" "" "3" "" "01243" "Sharon, submitted" "" "F" "yes" "Israel" "" "0" "" "" "Arab Christian" "" "00173872" "" "" "" "1" "" "02449" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP191" "00209002" "" "" "" "1" "" "00006" "{PMID:Lionel 2018:28771251}" "" "M" "" "Canada" "" "0" "" "" "" "28771251-Pat02" "00232526" "" "" "" "9" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232527" "" "" "" "4" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232528" "" "" "" "77" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232529" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232530" "" "" "" "511" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232531" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232532" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232533" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232534" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232535" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232536" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232537" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232538" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232539" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232540" "" "" "" "17" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232541" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232542" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232543" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232544" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232545" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232546" "" "" "" "15" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232547" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232548" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232549" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232550" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232551" "" "" "" "16" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232552" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232553" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232554" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232555" "" "" "" "16" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232556" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232557" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233667" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233668" "" "" "" "102" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233669" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00293572" "" "" "" "71" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293573" "" "" "" "36" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293574" "" "" "" "35" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00299640" "" "" "" "1" "" "00006" "{PMID:Arno 2017:28132693}" "3-generation family, 1 affeted, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "FamGC18203Pat1" "00304987" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308389" "" "" "" "1" "" "00004" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "France" "" "0" "" "" "" "CIC00535" "00308390" "" "" "" "1" "" "00004" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "France" "" "0" "" "" "" "CIC01196" "00308391" "" "" "" "1" "" "00004" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "France" "" "0" "" "" "" "CIC07188" "00308392" "" "" "" "1" "" "00004" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "France" "" "0" "" "" "" "CIC07045" "00308393" "" "" "" "1" "" "00004" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "France" "" "0" "" "" "" "CIC06642" "00308401" "" "" "" "1" "" "00004" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "France" "" "0" "" "" "" "CIC04945" "00308660" "" "" "" "1" "" "00004" "{PMID:Kim 2019:31144483}" "" "" "" "Korea" "" "0" "" "" "" "" "00309304" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309305" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309306" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309671" "" "" "" "1" "" "00006" "{PMID:Jinda 2014:24618324}" "" "M" "" "Thailand" "" "0" "" "" "" "RP069" "00324526" "" "" "" "1" "" "03960" "{PMID:Kominami 2019:31390656}, {PMID:Kominami 2017:29220607}, {DOI:Kominami 2017:10.1080/13816810.2017.1408846}" "2-generation family, 1 affected, unaffected parents" "M" "no" "Japan" ">20y" "0" "" "" "" "patient" "00325517" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "" "" "" "Mexico" "" "0" "" "" "" "EC07" "00325527" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "" "" "" "Mexico" "" "0" "" "" "" "4079" "00326802" "" "" "" "1" "" "03849" "{PMID:Kominami 2017:29220607}, {PMID:Kominami 2017:10.1080/13816810.2017.1408846}" "" "M" "no" "Japan" ">20y" "0" "" "" "Japan" "patient" "00327915" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "B240022" "00327955" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "B240220" "00328208" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G007724" "00328276" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "W000141" "00328303" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "W000180" "00328308" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "W000188" "00328343" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "W000382" "00331295" "" "" "" "1" "" "00000" "{PMID:Wawrocka 2018:29769798}" "" "" "" "Poland" "" "0" "" "" "" "Fam5" "00331968" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "F" "" "Germany" "" "0" "" "" "" "Pat106" "00331969" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "family" "F" "" "Germany" "" "0" "" "" "" "Pat107" "00331970" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "F" "" "Germany" "" "0" "" "" "" "Pat108" "00331971" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "family" "F" "" "Germany" "" "0" "" "" "" "Pat109" "00331972" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "family" "F" "" "Germany" "" "0" "" "" "" "Pat110" "00332047" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "family" "M" "" "Germany" "" "0" "" "" "" "Pat185" "00332210" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB284" "00332229" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB189" "00332230" "" "" "" "1" "" "00000" "{PMID:Bryant 2018:29343940}" "" "" "" "United States" "" "0" "" "" "" "JB241" "00332267" "" "" "" "1" "" "00000" "{PMID:Porto 2017:29186038}" "proband" "" "" "Brazil" "" "0" "" "" "" "Fam12PatFBP_34" "00332282" "" "" "" "1" "" "00000" "{PMID:Porto 2017:29186038}" "proband" "" "" "Brazil" "" "0" "" "" "" "Fam22PatFBP_60" "00333334" "" "" "" "2" "" "00000" "{PMID:Sheremet 2017:28980559}" "family, 2 affected" "F" "" "Russia" "" "0" "" "" "" "Pat20-I" "00333335" "" "" "00333334" "1" "" "00000" "{PMID:Sheremet 2017:28980559}" "" "F" "" "Russia" "" "0" "" "" "" "Pat21-II" "00333336" "" "" "" "1" "" "00000" "{PMID:Sheremet 2017:28980559}" "patient" "F" "" "Russia" "" "0" "" "" "" "Pat22" "00333617" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "352" "00333705" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "F" "" "(United States)" "" "0" "" "" "" "879" "00333731" "" "" "" "4" "" "00000" "{PMID:Stone 2017:28559085}" "family, 4 affected" "F" "" "(United States)" "" "0" "" "" "" "912" "00333732" "" "" "" "8" "" "00000" "{PMID:Stone 2017:28559085}" "family, 8 affected" "F" "" "(United States)" "" "0" "" "" "" "913" "00333929" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "353" "00333930" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "354" "00334422" "" "" "" "1" "" "00000" "{PMID:Huang 2017:28512305}" "patient" "" "" "China" "" "0" "" "" "" "RP-029" "00334423" "" "" "" "1" "" "00000" "{PMID:Huang 2017:28512305}" "family" "" "" "China" "" "0" "" "" "" "RP-041" "00334468" "" "" "" "1" "" "00000" "{PMID:Habibi 2016:27874104}" "family" "" "" "Tunisia" "" "0" "" "" "" "F8" "00334565" "" "" "" "1" "" "00000" "{PMID:Jinda 2017:28453600}" "patient" "" "" "Thailand" "" "0" "" "" "" "RP069" "00334897" "" "" "" "1" "" "00000" "{PMID:Li 2017:28418496}" "" "" "" "Pakistan" "" "0" "" "" "" "61237" "00334898" "" "" "" "1" "" "00000" "{PMID:Li 2017:28418496}" "" "" "" "Pakistan" "" "0" "" "" "" "61267" "00335142" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "no" "Netherlands" "" "0" "" "" "" "6568" "00335143" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "family" "" "no" "Netherlands" "" "0" "" "" "" "4999" "00335144" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "yes" "Netherlands" "" "0" "" "" "" "1420" "00335237" "" "" "" "1" "" "00000" "{PMID:Riera 2017:28181551}" "patient" "" "" "Spain" "" "0" "" "" "" "Fi15/09" "00335280" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "family" "" "" "Spain" "" "0" "" "" "" "Pat122" "00335312" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "family" "" "" "Spain" "" "0" "" "" "" "Pat22" "00335313" "" "" "" "1" "" "02485" "{PMID:Bravo-Gil 2017:28157192}" "patient" "" "" "Spain" "" "0" "" "" "" "Pat91" "00335404" "" "" "" "1" "" "00000" "{PMID:Huang 2018:29641573}" "" "" "" "" "" "0" "" "" "" "RP 066" "00335587" "" "" "" "1" "" "00000" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Belgium" "" "0" "" "" "" "FAM_045" "00335588" "" "" "" "1" "" "00000" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Belgium" "" "0" "" "" "" "FAM_046" "00335589" "" "" "" "1" "" "00000" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Belgium" "" "0" "" "" "" "FAM_047" "00358957" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case71918" "00358980" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case71094" "00359037" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "88301" "00359044" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "12013927" "00359045" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "familial segregation analysis requested" "" "" "" "" "0" "" "" "" "12009616" "00359075" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "familial segregation analysis requested" "" "" "" "" "0" "" "" "" "13002979" "00359107" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "12011770" "00359142" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "familial segregation analysis requested" "" "" "" "" "0" "" "" "" "13004232" "00359180" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "familial segregation analysis requested" "" "" "" "" "0" "" "" "" "75849" "00359194" "" "" "" "1" "" "00000" "{PMID:Ellingford 2016:27208204}" "patient" "" "" "" "" "0" "" "" "" "13018482" "00359335" "" "" "" "1" "" "00000" "{PMID:Khan 2017:27160483}" "see paper" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "1796" "00362161" "" "" "" "5" "" "00000" "{PMID:Oishi 2016:26957898}" "4-generation family, 5 affected (5F)" "F" "" "Japan" "" "0" "" "" "" "K6073/K6205" "00362898" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2016:26766544}" "family" "" "" "Germany" "" "0" "" "" "" "RCD 82" "00362899" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2016:26766544}" "family" "" "" "Germany" "" "0" "" "" "" "RCD512" "00362928" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2016:26766544}" "family" "" "" "Germany" "" "0" "" "" "" "RCD49" "00362933" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2016:26766544}" "family" "" "" "Germany" "" "0" "" "" "" "RCD285" "00363464" "" "" "" "1" "" "00000" "{PMID:Ge 2015:26667666}" "simplex case" "" "" "United States" "" "0" "" "" "" "N6+A.15" "00363589" "" "" "" "2" "" "00000" "{PMID:Patel 2016:26355662}" "2-generation family, affected father/son, variant homozygous in father, heterozygous in less severely affected son" "M" "" "Saudi Arabia" "" "0" "" "" "" "09DG00585-father" "00363685" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "12DG0402" "00363754" "" "" "00363589" "1" "" "00000" "{PMID:Patel 2016:26355662}" "son" "M" "" "Saudi Arabia" "" "0" "" "" "" "09DG0058son" "00368139" "" "" "" "1" "" "01695" "{PMID:Lee 2019:31576780}" "Only one mutation identified in the ABCA4 gene. Furthermore, a mutation (c.400C>T) in PROM1 was found." "F" "no" "" "" "0" "" "" "white (German-Czech-Hungarian)" "Unknown 1071" "00368956" "" "" "" "1" "" "01695" "{PMID:Wang 2014:25097241}" "" "M" "?" "United States" "" "0" "" "" "" "3" "00372624" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "M" "" "China" "" "0" "" "" "" "RP209" "00372638" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "M" "" "China" "" "0" "" "" "" "RP305" "00372668" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "M" "" "China" "" "0" "" "" "" "RP397" "00372674" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP101" "00372676" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP233" "00372679" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "family" "M" "" "China" "" "0" "" "" "" "RP122" "00372685" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "M" "" "China" "" "0" "" "" "" "RP056" "00372694" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP301" "00372696" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP332" "00372707" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP160" "00372710" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP206" "00372715" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP252" "00372731" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP402" "00372738" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP237" "00373494" "" "" "" "3" "" "00000" "{PMID:Liu 2015:25611614}" "family, 3 affected" "M" "" "China" "" "0" "" "" "" "RH9-PatV1" "00373495" "" "" "00373494" "1" "" "00000" "{PMID:Liu 2015:25611614}" "" "F" "" "China" "" "0" "" "" "" "RH9-PatV2" "00373496" "" "" "00373494" "1" "" "00000" "{PMID:Liu 2015:25611614}" "" "M" "" "China" "" "0" "" "" "" "RH9-PatV3" "00373528" "" "" "" "1" "" "00000" "{PMID:Zaneveld 2015:25474345}" "" "" "" "Canada" "" "0" "" "" "French-Canadian" "Pat105" "00373529" "" "" "" "1" "" "00000" "{PMID:Zaneveld 2015:25474345}" "" "" "" "China" "" "0" "" "" "" "Pat145" "00373855" "" "" "" "1" "" "00000" "{PMID:Zhao 2015:25472526}" "family" "" "" "Northern Ireland" "" "0" "" "" "" "Rp116" "00373885" "" "" "" "1" "" "00000" "{PMID:Consugar 2015:25412400}" "" "" "" "United States" "" "0" "" "" "" "OGI-300-666" "00373888" "" "" "" "1" "" "00000" "{PMID:Consugar 2015:25412400}" "" "" "" "United States" "" "0" "" "" "" "OGI-300-667" "00373926" "" "" "" "1" "" "00000" "{PMID:Consugar 2015:25412400}" "" "" "" "United States" "" "0" "" "" "" "OGI-088-220" "00374918" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "M" "" "China" "" "0" "" "" "" "F33-1" "00374936" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "M" "" "China" "" "0" "" "" "" "W92-1" "00374964" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "M" "yes" "China" "" "0" "" "" "" "W205-1" "00374965" "" "" "" "1" "" "00000" "{PMID:Huang 2015:25356976}" "" "M" "" "China" "" "0" "" "" "" "W142-1" "00375410" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#001" "00375426" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#020" "00375438" "" "" "" "1" "" "00000" "{PMID:Watson 2014:25133751}" "family" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "MA7" "00376341" "" "" "" "1" "" "00006" "{PMID:Zhang 2014:24763286}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "" "FamE" "00376792" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "59" "00376821" "" "" "" "1" "" "00000" "{PMID:Daiger 2014:24664689}" "" "" "" "United States" "" "0" "" "" "" "RFS397" "00377180" "" "" "" "1" "" "00000" "Tracewska 2021, MolVis in press" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "251" "00377263" "" "" "" "1" "" "00000" "Tracewska 2021, MolVis in press" "proband" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "394" "00377266" "" "" "" "2" "" "00000" "Tracewska 2021, MolVis in press" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "400" "00377267" "" "" "00377266" "1" "" "00000" "Tracewska 2021, MolVis in press" "brother" "M" "no" "Poland" "" "0" "yes" "" "Slavic" "651" "00377272" "" "" "" "1" "" "00000" "Tracewska 2021, MolVis in press" "proband" "F" "no" "Poland" "" "0" "yes" "" "Slavic" "422" "00377392" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "?" "00377718" "" "" "" "1" "" "00000" "{PMID:Bowne 2011:20861475}" "" "" "no" "" "" "0" "" "" "white" "" "00377799" "" "" "" "1" "" "00000" "{PMID:Littink 2010:20554613}" "" "" "" "" "" "0" "" "" "" "" "00377803" "" "" "" "1" "" "00000" "{PMID:Littink 2010:20554613}" "" "" "no" "Netherlands" "" "0" "" "" "Greek" "" "00377804" "" "" "" "1" "" "00000" "{PMID:Littink 2010:20554613}" "" "" "no" "Netherlands" "" "0" "" "" "Greek" "" "00377956" "" "" "" "1" "" "00000" "{PMID:_Audo-2012:22277662}" "false positive, not found by Sanger" "" "" "" "" "0" "" "" "" "" "00378027" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_SH_0012" "00379560" "" "" "" "1" "" "00000" "{PMID:O\'Sullivan-2012:22581970}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00379565" "" "" "" "1" "" "00000" "{PMID:O\'Sullivan-2012:22581970}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00379773" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0131" "00379859" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "F" "?" "China" "" "0" "" "" "Han Chinese" "2016121206" "00380105" "" "" "" "1" "" "00000" "{PMID:Kersten 2018:30215852}" "" "F" "" "" "" "0" "" "" "" "?" "00380106" "" "" "" "1" "" "00000" "{PMID:Kersten 2018:30215852}" "" "F" "" "" "" "0" "" "" "" "?" "00380120" "" "" "" "1" "" "00000" "{PMID:Kersten 2018:30215852}" "" "F" "" "" "" "0" "" "" "" "?" "00380916" "" "" "" "1" "" "00000" "{PMID:Perez-Carro 2018:29912909}" "family RP-1899" "M" "no" "Spain" "" "0" "" "" "" "RP-1899" "00381003" "" "" "" "1" "" "00000" "{PMID:Schorderet-2013:23484092}" "" "" "" "Switzerland" "" "0" "" "" "Swiss, Algerian or Tunisian" "" "00381018" "" "" "" "1" "" "00000" "{PMID:Chen-2013:23462753}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00381627" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "M" "no" "Germany" "" "0" "" "" "" "" "00381662" "" "" "" "1" "" "00000" "{PMID:Eisenberger-2013:24265693}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "" "00381712" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "no" "" "" "0" "" "" "" "" "00381715" "" "" "" "1" "" "00000" "{PMID:Wang-2014:24154662}" "" "" "no" "" "" "0" "" "" "" "" "00381892" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:30543658}" "" "F" "" "Germany" "" "0" "" "" "" "42" "00381955" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2018:30576320}" "" "M" "" "Germany" "" "0" "" "" "" "24" "00382142" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "325" "00382285" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "114" "00382346" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "175" "00382348" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "177" "00382349" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "178" "00382350" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "179" "00382441" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "270" "00382452" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "281" "00382578" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "440" "00382804" "" "" "" "1" "" "00000" "{PMID:Song-2011:22025579}" "" "M" "" "" "" "0" "" "" "" "" "00382845" "" "" "" "3" "" "00000" "{PMID:Beryozkin-2014:24474277}" "" "" "yes" "" "" "0" "" "" "Arab-Christian" "" "00383506" "" "" "" "1" "" "00000" "{PMID:Kim 2019:31496144}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "?" "00383664" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "MD-0001" "00383665" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "MD-0059" "00383666" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "MD-0100_III.3" "00383667" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "MD-0123_V:2" "00383668" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "MD-0235_II:1" "00383669" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "MD-0289" "00383670" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "MD-0383_III:2" "00383671" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "MD-0649_IV:1" "00383672" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "MD-0654_IV:1" "00383673" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "MD-0682_III:1" "00383674" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "MD-0762_III:1" "00383675" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "MD-0803_III:2" "00383676" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "MD-0838_III:2" "00383677" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "MD-0873_V:3" "00383678" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "MD-0875" "00383679" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "MD-0934_III:8" "00383680" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "MD-0934_III:6" "00383681" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "MD-0934_III:1" "00383682" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "MD-1074" "00383683" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "RP-0365" "00383684" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "RP-0586_III:1" "00383685" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "RP-0855_III:2" "00383686" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "RP-0878_III:6" "00383687" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "RP-1110_III:7" "00383688" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "RP-1110_IV:1" "00383689" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "RP-1243" "00383690" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "RP-1740" "00383691" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "RP-1852_IV:4" "00383692" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "RP-1899_III:4" "00383693" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "RP-2604_III:1" "00383694" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "RP-2645" "00383695" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "RP-2680" "00383696" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "RP-2752_III:1" "00383697" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "RP-2831" "00383698" "" "" "" "1" "" "00000" "{PMID:Del Pozo-Valero:31129250}" "individual ID family_patient or only family number for probands with unknown pedigree" "?" "" "Spain" "" "0" "" "" "" "RP-2924_III:3" "00383778" "" "" "" "1" "" "00000" "{PMID:Gao 2019:31054281}" "" "?" "" "China" "" "0" "" "" "" "RD18081320_A" "00383779" "" "" "" "1" "" "00000" "{PMID:Gao 2019:31054281}" "" "?" "" "China" "" "0" "" "" "" "RD18081321_A" "00383856" "" "" "" "1" "" "00000" "{PMID:Wolock 2019:30926958}" "" "" "" "United States" "" "0" "" "" "" "3459" "00383861" "" "" "" "1" "" "00000" "{PMID:Wolock 2019:30926958}" "" "" "" "United States" "" "0" "" "" "" "3922" "00383862" "" "" "" "1" "" "00000" "{PMID:Wolock 2019:30926958}" "" "" "" "United States" "" "0" "" "" "" "4246" "00383863" "" "" "" "1" "" "00000" "{PMID:Wolock 2019:30926958}" "" "" "" "United States" "" "0" "" "" "" "4337" "00383866" "" "" "" "1" "" "00000" "{PMID:Wolock 2019:30926958}" "" "" "" "United States" "" "0" "" "" "" "4539" "00383929" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-0586" "00383948" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-0878" "00384038" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1852" "00384046" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1899" "00384172" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2924" "00384202" "" "" "" "1" "" "00000" "{PMID:Tayebi 2019:30820146}" "" "" "" "Iran" "" "0" "" "" "" "066865" "00384423" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14435" "00384440" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "14540" "00384745" "" "" "" "1" "" "00000" "{PMID:González-del Pozo-2011:22164218}" "" "" "" "" "" "0" "" "" "Spanish" "" "00384769" "" "" "" "2" "" "00000" "{PMID:González-del Pozo-2011:22164218}" "" "" "" "" "" "0" "" "" "Spanish" "" "00384770" "" "" "" "1" "" "00000" "{PMID:González-del Pozo-2011:22164218}" "" "" "" "" "" "0" "" "" "Spanish" "" "00384771" "" "" "" "3" "" "00000" "{PMID:González-del Pozo-2011:22164218}" "" "" "" "" "" "0" "" "" "Spanish" "" "00384772" "" "" "" "2" "" "00000" "{PMID:González-del Pozo-2011:22164218}" "" "" "" "" "" "0" "" "" "Spanish" "" "00384773" "" "" "" "3" "" "00000" "{PMID:González-del Pozo-2011:22164218}" "" "" "" "" "" "0" "" "" "Spanish" "" "00385029" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "19440" "00385173" "" "" "" "1" "" "00000" "{PMID:Jiman 2020:31836858}" "" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "66" "00385610" "" "" "" "1" "" "00000" "{PMID:de Castro-Miró-2014:24516651}" "" "" "" "" "" "0" "" "" "" "22NCE" "00386200" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-319" "00386255" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-536" "00386288" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-BT, proband" "F" "" "Spain" "" "0" "" "" "" "RP-543" "00386289" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-BT, family member" "M" "" "Spain" "" "0" "" "" "" "RP-545" "00386290" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-BT, family member" "M" "" "Spain" "" "0" "" "" "" "RP-547" "00386657" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "121-243" "00386870" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "099-032" "00386893" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2867_004452" "00387073" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "F" "" "(United States)" "" "0" "" "" "white" "99" "00387513" "" "" "" "1" "" "00000" "{PMID:Matsui 2015:26393467}" "" "F" "" "United States" "" "0" "" "" "" "" "00388549" "" "" "" "1" "" "00000" "{PMID:Dineiro 2020:32483926}" "" "?" "" "Spain" "" "0" "" "" "" "OFTALMO.010" "00389292" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 208, macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "576" "00389356" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 228, cone-rod dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "640" "00389438" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 270, Stargardt Disease, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "722" "00389535" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 334, cone-rod dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "819" "00389561" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 348, cone-rod dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "845" "00389576" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 355, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "860" "00389577" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 355, autosomal dominant retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "861" "00389594" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 366, cone-rod dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "878" "00389598" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 368, macular dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "882" "00389742" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 549, cone dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1026" "00389764" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 622, cone-rod dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1048" "00389768" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 641, cone-rod dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1052" "00389772" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 657, cone-rod dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1056" "00389773" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 657, cone-rod dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1057" "00389774" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 657, cone-rod dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1058" "00389778" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 665, cone-rod dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1062" "00389779" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 665, cone-rod dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1063" "00389791" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 703, cone-rod dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1075" "00389792" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 703, cone-rod dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1076" "00389793" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 705, cone-rod dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1077" "00389794" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 705, cone-rod dystrophy, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1078" "00389830" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 762, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1114" "00389831" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 762, cone-rod dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1115" "00389832" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 762, cone-rod dystrophy, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1116" "00389841" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 768, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1125" "00389962" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 1025, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1246" "00390022" "" "" "" "2" "" "03840" "{PMID:Hu 2020:32534057}" "has an affected mother with the same mutation" "M" "no" "China" "" "0" "" "" "" "F10:III:1" "00390344" "" "" "" "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" "" "" "" "G007724" "00390345" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G009825" "00390346" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000141" "00390347" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000180" "00390348" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000188" "00390349" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000382" "00390877" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00390925" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" "" "00390942" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00390983" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" "" "00391180" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "F" "" "(Germany)" "" "0" "" "" "" "142" "00391181" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "F" "" "(Germany)" "" "0" "" "" "" "143" "00391182" "" "" "" "1" "" "00000" "{PMID:Gliem 2020:32646556}" "" "F" "" "(Germany)" "" "0" "" "" "" "144" "00391365" "" "" "" "1" "" "00000" "{PMID:Méjécase 2020:3278337" "" "?" "" "United Arab Emirates" "" "0" "" "" "" "33" "00391564" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "?" "" "New Zealand" "" "0" "" "" "white" "61" "00391565" "" "" "" "1" "" "00000" "{PMID:Hull 2020:32856788}" "" "?" "" "New Zealand" "" "0" "" "" "Maori" "62" "00393313" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "STGD-1" "00393342" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-017" "00393343" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-048" "00393741" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "F" "" "" "" "0" "" "" "" "" "00393782" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393881" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00395765" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F235" "00395776" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F009" "00395905" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F030" "00395906" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F217" "00395940" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F103" "00396424" "" "" "" "1" "" "00006" "{PMID:Ellingford 2016:26872967}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "10009624" "00396464" "" "" "" "1" "" "00006" "{PMID:Ellingford 2017:28378820}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "15017248" "00406376" "" "" "" "1" "" "00000" "{PMID:Kohl 2012:22183351}" "" "?" "" "Germany" "" "0" "" "" "" "?" "00407355" "" "" "" "1" "" "00000" "{PMID:Borràs 2013:23534816}" "" "" "" "Spain" "" "0" "" "" "Spanish" "RP-93" "00408399" "" "" "" "1" "" "03468" "" "" "" "" "" "" "" "" "" "" "" "00408400" "" "" "" "1" "" "03468" "" "" "" "" "" "" "" "" "" "" "" "00410354" "" "" "" "1" "" "00000" "{PMID:Permanyer 2010:20042663}" "" "M" "yes" "Spain" "" "0" "" "" "" "IV:2" "00410355" "" "" "" "1" "" "00000" "{PMID:Permanyer 2010:20042663}" "" "F" "yes" "Spain" "" "0" "" "" "" "IV:3" "00410356" "" "" "" "1" "" "00000" "{PMID:Permanyer 2010:20042663}" "" "M" "yes" "Spain" "" "0" "" "" "" "IV:4" "00410377" "" "" "" "1" "" "00000" "{PMID:Michaelides 2010:20393116}" "proband" "F" "" "" "" "0" "" "" "" "CII:1" "00410378" "" "" "" "1" "" "00000" "{PMID:Michaelides 2010:20393116}" "proband\'s daughter 1" "F" "" "" "" "0" "" "" "" "CIII:1" "00410379" "" "" "" "1" "" "00000" "{PMID:Michaelides 2010:20393116}" "proband\'s daughter 2" "F" "" "" "" "0" "" "" "" "CIII:3" "00410380" "" "" "" "1" "" "00000" "{PMID:Michaelides 2010:20393116}" "proband\'s daughter 3" "F" "" "" "" "0" "" "" "" "CIII:6" "00410381" "" "" "" "1" "" "00000" "{PMID:Michaelides 2010:20393116}" "proband\'s granddaughter 1" "F" "" "" "" "0" "" "" "" "CIV:1" "00410382" "" "" "" "1" "" "00000" "{PMID:Michaelides 2010:20393116}" "proband\'s granddaughter 2" "F" "" "" "" "0" "" "" "" "CIV:5" "00410383" "" "" "" "1" "" "00000" "{PMID:Michaelides 2010:20393116}" "proband\'s mother" "F" "" "" "" "0" "" "" "" "DII:2" "00410384" "" "" "" "1" "" "00000" "{PMID:Michaelides 2010:20393116}" "proband" "F" "" "" "" "0" "" "" "" "DIII:1" "00410385" "" "" "" "1" "" "00000" "{PMID:Michaelides 2010:20393116}" "proband" "F" "" "" "" "0" "" "" "" "EIII:1" "00410386" "" "" "" "1" "" "00000" "{PMID:Michaelides 2010:20393116}" "proband\'s sister" "F" "" "" "" "0" "" "" "" "EIII:3" "00410393" "" "" "" "1" "" "00000" "{PMID:Arrigoni 2011:20859302}" "maternal grandmother" "F" "" "" "" "0" "" "" "" "A-III:6" "00410394" "" "" "" "1" "" "00000" "{PMID:Arrigoni 2011:20859302}" "maternal aunt" "F" "" "" "" "0" "" "" "" "A-IV:4" "00410395" "" "" "" "1" "" "00000" "{PMID:Arrigoni 2011:20859302}" "mother" "F" "" "" "" "0" "" "" "" "A-IV:2" "00410396" "" "" "" "1" "" "00000" "{PMID:Arrigoni 2011:20859302}" "proband" "" "" "" "" "0" "" "" "" "A-V:1" "00410397" "" "" "" "1" "" "00000" "{PMID:Arrigoni 2011:20859302}" "mother" "F" "" "" "" "0" "" "" "" "B-I:1" "00410398" "" "" "" "1" "" "00000" "{PMID:Arrigoni 2011:20859302}" "daughter" "F" "" "" "" "0" "" "" "" "B-II:1" "00410399" "" "" "" "1" "" "00000" "{PMID:Khan 2015:24547909}" "" "" "" "" "" "0" "" "" "" "?" "00410401" "" "" "" "1" "" "00000" "{PMID:Mayer 2016:26153215}" "" "M" "yes" "Germany" "" "0" "" "" "" "II:1" "00410402" "" "" "" "1" "" "00000" "{PMID:Mayer 2016:26153215}" "" "F" "yes" "Germany" "" "0" "" "" "" "II:4" "00410403" "" "" "" "1" "" "00000" "{PMID:Liu 2016:27082927}" "" "F" "yes" "Germany" "" "0" "" "" "" "FamAPatII:2" "00410404" "" "" "" "1" "" "00000" "{PMID:Liu 2016:27082927}" "" "M" "yes" "Germany" "" "0" "" "" "" "FamBPatII:1" "00410405" "" "" "" "1" "" "00000" "{PMID:Eidinger 2015:26702251}" "family TB126 - Jewish family of Kurdish Iraqi" "F" "likely" "Israel" "" "0" "" "" "Jewish, Kurdish Iraqi" "famTB126patII:1" "00410406" "" "" "" "1" "" "00000" "{PMID:Eidinger 2015:26702251}" "family TB126 - Jewish family of Kurdish Iraqi" "F" "likely" "Israel" "" "0" "" "" "Jewish, Kurdish Iraqi" "famTB126patII-3" "00410407" "" "" "" "1" "" "00000" "{PMID:Eidinger 2015:26702251}" "family TB126 - Jewish family of Kurdish Iraqi" "M" "likely" "Israel" "" "0" "" "" "Jewish, Kurdish Iraqi" "famTB126patII-4" "00410408" "" "" "" "1" "" "00000" "{PMID:Randhawa 2017:27571428}" "" "F" "" "United States" "" "0" "" "" "white" "?" "00410409" "" "" "" "1" "" "00000" "{PMID:Vallim-Salles 2017:28095140}" "" "M" "" "" "" "0" "" "" "" "1" "00410410" "" "" "" "1" "" "00000" "{PMID:Vallim-Salles 2017:28095140}" "" "M" "" "" "" "0" "" "" "" "2" "00410411" "" "" "" "1" "" "00000" "{PMID:Vallim-Salles 2017:28095140}" "" "M" "" "" "" "0" "" "" "" "3" "00410412" "" "" "" "1" "" "00000" "{PMID:Kim 2017:28840994}" "" "M" "" "" "" "0" "" "" "" "?" "00410469" "" "" "" "1" "" "00000" "{PMID:Imani 2018:29416601}" "proband\'s mother; four-generation pedigree" "F" "" "China" "" "0" "" "" "" "I:2" "00410470" "" "" "" "1" "" "00000" "{PMID:Imani 2018:29416601}" "proband; four-generation pedigree" "F" "" "China" "" "0" "" "" "" "II:2" "00410471" "" "" "" "1" "" "00000" "{PMID:Imani 2018:29416601}" "proband\'s sister; four-generation pedigree" "F" "" "China" "" "0" "" "" "" "II:6" "00410472" "" "" "" "1" "" "00000" "{PMID:Imani 2018:29416601}" "proband\'s daughter; four-generation pedigree" "F" "" "China" "" "0" "" "" "" "III:3" "00410473" "" "" "" "1" "" "00000" "{PMID:Imani 2018:29416601}" "proband\'s sister\'s son; four-generation pedigree" "M" "" "China" "" "0" "" "" "" "III:6" "00410474" "" "" "" "1" "" "00000" "{PMID:Strauss 2018:30110705}" "" "" "" "" "" "0" "" "" "" "1" "00410475" "" "" "" "1" "" "00000" "{PMID:Strauss 2018:30110705}" "" "" "" "" "" "0" "" "" "" "2" "00410476" "" "" "" "1" "" "00000" "{PMID:Strauss 2018:30110705}" "" "" "" "" "" "0" "" "" "" "3" "00410477" "" "" "" "1" "" "00000" "{PMID:Strauss 2018:30110705}" "" "" "" "" "" "0" "" "" "" "4" "00410478" "" "" "" "1" "" "00000" "{PMID:Strauss 2018:30110705}" "" "" "" "" "" "0" "" "" "" "5" "00410479" "" "" "" "1" "" "00000" "{PMID:Strauss 2018:30110705}" "" "" "" "" "" "0" "" "" "" "7" "00410480" "" "" "" "1" "" "00000" "{PMID:Strauss 2018:30110705}" "" "" "" "" "" "0" "" "" "" "8" "00410481" "" "" "" "1" "" "00000" "{PMID:Strauss 2018:30110705}" "" "" "" "" "" "0" "" "" "" "9" "00410482" "" "" "" "1" "" "00000" "{PMID:Strauss 2018:30110705}" "" "" "" "" "" "0" "" "" "" "10" "00410483" "" "" "" "1" "" "00000" "{PMID:Strauss 2018:30110705}" "" "" "" "" "" "0" "" "" "" "12" "00410484" "" "" "" "1" "" "00000" "{PMID:Strauss 2018:30110705}" "" "" "" "" "" "0" "" "" "" "13" "00410485" "" "" "" "1" "" "00000" "{PMID:Strauss 2018:30110705}" "" "" "" "" "" "0" "" "" "" "14" "00410486" "" "" "" "1" "" "00000" "{PMID:Strauss 2018:30110705}" "" "" "" "" "" "0" "" "" "" "15" "00410487" "" "" "" "1" "" "00000" "{PMID:Strauss 2018:30110705}" "" "" "" "" "" "0" "" "" "" "16" "00410488" "" "" "" "1" "" "00000" "{PMID:Strauss 2018:30110705}" "" "" "" "" "" "0" "" "" "" "18" "00410491" "" "" "" "1" "" "00000" "{PMID:Liang 2019:30588538}" "" "M" "" "" "" "0" "" "" "Han Chinese" "II-1" "00410492" "" "" "" "1" "" "00000" "{PMID:Liang 2019:30588538}" "" "M" "" "" "" "0" "" "" "Han Chinese" "II-2" "00410493" "" "" "" "1" "" "00000" "{PMID:Collison 2019:31136651}" "proband, Family A" "M" "" "United States" "" "0" "" "" "Syrian-Lebanese Christian (paternal), Bohemian/Scotch-Irish/Greek (maternal)" "Patient 1 (Family A)" "00410494" "" "" "" "1" "" "00000" "{PMID:Collison 2019:31136651}" "proband, Family B" "M" "" "United States" "" "0" "" "" "Polish" "Patient 2 (Family B)" "00410495" "" "" "" "1" "" "00000" "{PMID:Collison 2019:31136651}" "proband\'s brother, Family B" "M" "" "United States" "" "0" "" "" "Polish" "Patient 3 (Family B)" "00410496" "" "" "" "1" "" "00000" "{PMID:Collison 2019:31136651}" "proband, Family C" "F" "" "United States" "" "0" "" "" "Scottish/English/German (maternal), German/English/Polish (paternal)" "Patient 4 (Family C)" "00410497" "" "" "" "1" "" "00000" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "F" "" "" "" "0" "" "" "" "AD1" "00410498" "" "" "" "1" "" "00000" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "M" "" "" "" "0" "" "" "" "AD2" "00410499" "" "" "" "1" "" "00000" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "F" "" "" "" "0" "" "" "" "AD3" "00410500" "" "" "" "1" "" "00000" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "F" "" "" "" "0" "" "" "" "AD4" "00410501" "" "" "" "1" "" "00000" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "F" "" "" "" "0" "" "" "" "AD5" "00410502" "" "" "" "1" "" "00000" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "F" "" "" "" "0" "" "" "" "AD6" "00410503" "" "" "" "1" "" "00000" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "F" "" "" "" "0" "" "" "" "AR1" "00410504" "" "" "" "1" "" "00000" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "F" "" "" "" "0" "" "" "" "AR10" "00410505" "" "" "" "1" "" "00000" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "F" "" "" "" "0" "" "" "" "AR11" "00410506" "" "" "" "1" "" "00000" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "F" "" "" "" "0" "" "" "" "AR12" "00410507" "" "" "" "1" "" "00000" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "M" "" "" "" "0" "" "" "" "AR13" "00410508" "" "" "" "1" "" "00000" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "M" "" "" "" "0" "" "" "" "AR2" "00410509" "" "" "" "1" "" "00000" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "F" "" "" "" "0" "" "" "" "AR3" "00410510" "" "" "" "1" "" "00000" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "M" "" "" "" "0" "" "" "" "AR4" "00410511" "" "" "" "1" "" "00000" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "F" "" "" "" "0" "" "" "" "AR5" "00410512" "" "" "" "1" "" "00000" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "M" "" "" "" "0" "" "" "" "AR6" "00410513" "" "" "" "1" "" "00000" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "F" "" "" "" "0" "" "" "" "AR7" "00410514" "" "" "" "1" "" "00000" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "M" "" "" "" "0" "" "" "" "AR8" "00410515" "" "" "" "1" "" "00000" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "F" "" "" "" "0" "" "" "" "AR9" "00410516" "" "" "" "1" "" "00000" "{PMID:Ragi 2019:31836589}" "" "M" "" "" "" "0" "" "" "" "II:2" "00410518" "" "" "" "1" "" "00000" "{PMID:Fujinami 2020:32820593}" "family 1, proband" "M" "" "" "" "0" "" "" "" "1" "00410519" "" "" "" "1" "" "00000" "{PMID:Fujinami 2020:32820593}" "family 1, proband\'s daughter" "F" "" "" "" "0" "" "" "" "1" "00410520" "" "" "" "1" "" "00000" "{PMID:Fujinami 2020:32820593}" "family 2, proband" "M" "" "" "" "0" "" "" "" "2" "00410521" "" "" "" "1" "" "00000" "{PMID:Fujinami 2020:32820593}" "family 2, proband\'s mother" "M" "" "" "" "0" "" "" "" "2" "00410522" "" "" "" "1" "" "00000" "{PMID:Fujinami 2020:32820593}" "family 3, proband" "F" "" "" "" "0" "" "" "" "3" "00410523" "" "" "" "1" "" "00000" "{PMID:Fujinami 2020:32820593}" "family 4, proband" "F" "" "" "" "0" "" "" "" "4" "00410524" "" "" "" "1" "" "00000" "{PMID:Fujinami 2020:32820593}" "family 5, proband" "M" "" "" "" "0" "" "" "" "5" "00410525" "" "" "" "1" "" "00000" "{PMID:Fujinami 2020:32820593}" "family 6, proband" "F" "" "" "" "0" "" "" "" "6" "00410526" "" "" "" "1" "" "00000" "{PMID:Fujinami 2020:32820593}" "family 6, proband\'s mother" "F" "" "" "" "0" "" "" "" "6" "00410527" "" "" "" "1" "" "00000" "{PMID:Fujinami 2020:32820593}" "family 7, proband" "M" "" "" "" "0" "" "" "" "7" "00410528" "" "" "" "1" "" "00000" "{PMID:Fujinami 2020:32820593}" "family 8, proband" "F" "" "" "" "0" "" "" "" "8" "00410529" "" "" "" "1" "" "00000" "{PMID:Wang 2021:34008001}" "Fam4960patI2" "M" "" "China" "" "0" "" "" "" "4960-I2" "00410530" "" "" "" "1" "" "00000" "{PMID:Wang 2021:34008001}" "Fam4960patII2" "F" "" "China" "" "0" "" "" "" "4960-II2" "00410531" "" "" "" "1" "" "00000" "{PMID:Wang 2021:34008001}" "Fam4960patII3" "M" "" "China" "" "0" "" "" "" "4960-II3" "00410532" "" "" "" "1" "" "00000" "{PMID:Wang 2021:34008001}" "Fam4960patIII1" "M" "" "China" "" "0" "" "" "" "4960-III1" "00410533" "" "" "" "1" "" "00000" "{PMID:Wang 2021:34008001}" "Fam14435patII2" "F" "" "China" "" "0" "" "" "" "14435-II2" "00410534" "" "" "" "1" "" "00000" "{PMID:Wang 2021:34008001}" "Fam14435patII4" "M" "" "China" "" "0" "" "" "" "14435-II4" "00410535" "" "" "" "1" "" "00000" "{PMID:Wang 2021:34008001}" "Fam14435patIII1" "F" "" "China" "" "0" "" "" "" "14435-III1" "00410536" "" "" "" "1" "" "00000" "{PMID:Wang 2021:34008001}" "Fam14435patIII2" "M" "" "China" "" "0" "" "" "" "14435-III2" "00410537" "" "" "" "1" "" "00000" "{PMID:Wang 2021:34008001}" "Fam14540patII1" "F" "" "China" "" "0" "" "" "" "14540-II1" "00410538" "" "" "" "1" "" "00000" "{PMID:Wang 2021:34008001}" "Fam17364patII2" "M" "" "China" "" "0" "" "" "" "17364-II2" "00419713" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "M" "" "" "" "0" "" "" "" "070872" "00419714" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "M" "" "" "" "0" "" "" "" "070900" "00419715" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "F" "" "" "" "0" "" "" "" "070944" "00420394" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F009" "00420412" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F030" "00420453" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F103" "00420526" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F217" "00420538" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F235" "00425880" "" "" "" "1" "" "00000" "{PMID:Xiao 2017:29260190}" "family RP-F1, individual III:1; proband" "M" "" "China" "" "0" "" "" "Chinese" "III:1" "00425888" "" "" "" "1" "" "00000" "{PMID:Xiao 2017:29260190}" "family RP-F2, individual II:5, sibling of II:1" "F" "" "China" "" "0" "" "" "Chinese" "II:5" "00429605" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00429609" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00429665" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00429682" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00429686" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00429751" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00429777" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00429838" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00429878" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00429898" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00429919" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00429929" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00429932" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00430011" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00430100" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00430914" "" "" "" "1" "" "04091" "{PMID:Reurink 2023:36785559}, {DOI:Reurink 2023:10.1016/j.xhgg.2023.100181}" "" "" "" "" "" "0" "" "" "" "arRP29" "00435132" "" "" "" "1" "" "04473" "{PMID:Bianco 2023:36563963}" "" "F" "no" "Italy" "" "" "" "" "Italian" "IV.1" "00436465" "" "" "" "1" "" "04552" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "M" "no" "(Mexico)" "" "" "" "none" "Hispanic" "2324887" "00436472" "" "" "" "1" "" "04552" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "F" "no" "Mexico" "" "" "" "none" "Hispanic" "2694968" "00436474" "" "" "" "1" "" "04552" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "F" "no" "Mexico" "" "" "" "none" "Hispanic" "2696196" "00436589" "" "" "" "1" "" "04552" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "M" "likely" "Mexico" "" "" "" "" "Hispanic" "2637825" "00446958" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "ADRP-515" "00447017" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "ARRP-485" "00447103" "" "" "" "4" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, >3 affected" "F" "" "Germany" "" "0" "" "" "" "CRD-804" "00447124" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "M" "" "Germany" "" "0" "" "" "" "CRD-853" "00447333" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "STGD-100" "00447582" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-53" "00447617" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-1250" "00447641" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "USHII-351-1" "00447642" "" "" "00447641" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "relative" "M" "" "Germany" "" "0" "" "" "" "USHII-351-2" "00447666" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "CRD-295" "00447668" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "CRD-635" "00447705" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-1157" "00447723" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "UD-103" "00449984" "" "" "" "1" "" "02230" "{PMID:Zeuli 2024:38816995}" "" "M" "" "Italy" "" "0" "" "" "white" "Pt-5" "00449985" "" "" "" "1" "" "02230" "{PMID:Zeuli 2024:38816995}" "" "F" "" "Italy" "" "0" "" "" "white" "Pt-6" "00450911" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "067119" "00450912" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "067132" "00450913" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "067256" "00450914" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "067299" "00450915" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "070530" "00450916" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "071071" "00450917" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "071090" "00450918" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "071215" "00450919" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "071370" "00450920" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "071528" "00450921" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "072097" "00450922" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "072155" "00450923" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "072841" "00450924" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "072842" "00450925" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "072843" "00450926" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "073305" "00450927" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "073395" "00450928" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "073544" "00450929" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "073736" "00450930" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "M" "" "" "" "0" "" "" "" "074091" "00450931" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "079868" "00450932" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "DNA16-10298" "00451059" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "066789" "00451080" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "067163" "00451207" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072047" "00451354" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "DNA18-01480" "00451546" "" "" "" "3" "" "04543" "{PMID:Basharat 2024:38815792}" "5-generation family, 3 affected (F, 2M)" "F" "yes" "Pakistan" "" "0" "" "" "" "FamFPatV1" "00451547" "" "" "00451546" "1" "" "04543" "{PMID:Basharat 2024:38815792}" "brother" "M" "yes" "Pakistan" "" "0" "" "" "" "FamFPatV2" "00451548" "" "" "00451546" "1" "" "04543" "{PMID:Basharat 2024:38815792}" "brother" "M" "yes" "Pakistan" "" "0" "" "" "" "FamFPatV4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 519 "{{individualid}}" "{{diseaseid}}" "00001804" "00112" "00001807" "00112" "00032824" "03087" "00032825" "03087" "00032826" "02467" "00032827" "02732" "00032828" "00198" "00032829" "02732" "00032830" "02733" "00032831" "00058" "00033105" "04214" "00033141" "04214" "00033147" "04214" "00033351" "04214" "00033679" "04214" "00095946" "04211" "00155525" "04214" "00155526" "04210" "00173872" "04214" "00209002" "00381" "00232526" "04214" "00232527" "04214" "00232528" "04214" "00232529" "04214" "00232530" "04214" "00232531" "04214" "00232532" "04214" "00232533" "04214" "00232534" "04214" "00232535" "04214" "00232536" "04214" "00232537" "04214" "00232538" "04214" "00232539" "04214" "00232540" "04214" "00232541" "04214" "00232542" "04214" "00232543" "04214" "00232544" "04214" "00232545" "04214" "00232546" "04214" "00232547" "04214" "00232548" "04214" "00232549" "04214" "00232550" "04214" "00232551" "04214" "00232552" "04214" "00232553" "04214" "00232554" "04214" "00232555" "04214" "00232556" "04214" "00232557" "04214" "00233667" "04214" "00233668" "04214" "00233669" "04214" "00293572" "00198" "00293573" "00198" "00293574" "00198" "00299640" "04214" "00304987" "00198" "00308389" "04214" "00308390" "04214" "00308391" "04214" "00308392" "04214" "00308393" "04214" "00308401" "04214" "00308660" "04214" "00309304" "04214" "00309305" "04214" "00309306" "04214" "00309671" "04214" "00324526" "04213" "00325517" "04214" "00325527" "04214" "00326802" "04213" "00327915" "04214" "00327955" "04214" "00328208" "04214" "00328276" "04214" "00328303" "04214" "00328308" "04214" "00328343" "04214" "00331295" "04214" "00331968" "04214" "00331969" "04214" "00331970" "04214" "00331971" "04214" "00331972" "04214" "00332047" "04214" "00332210" "04214" "00332229" "04214" "00332230" "04214" "00332267" "04214" "00332282" "04214" "00333334" "04214" "00333335" "04214" "00333336" "04214" "00333617" "04214" "00333705" "04214" "00333731" "04214" "00333732" "04214" "00333929" "04214" "00333930" "04214" "00334422" "04214" "00334423" "04214" "00334468" "04214" "00334565" "04214" "00334897" "04214" "00334898" "04214" "00335142" "00198" "00335143" "00198" "00335144" "00198" "00335237" "04214" "00335280" "04214" "00335312" "04214" "00335313" "04214" "00335404" "04214" "00335587" "04214" "00335588" "04214" "00335589" "04214" "00358957" "04214" "00358980" "04214" "00359037" "04214" "00359044" "04214" "00359045" "04214" "00359075" "04214" "00359107" "04214" "00359142" "04214" "00359180" "04214" "00359194" "04214" "00359335" "04214" "00362161" "04214" "00362898" "04214" "00362899" "04214" "00362928" "04214" "00362933" "04214" "00363464" "04214" "00363589" "04214" "00363685" "04214" "00363754" "04214" "00368139" "04214" "00368956" "04214" "00372624" "04214" "00372638" "04214" "00372668" "04214" "00372674" "04214" "00372676" "04214" "00372679" "04214" "00372685" "04214" "00372694" "04214" "00372696" "04214" "00372707" "04214" "00372710" "04214" "00372715" "04214" "00372731" "04214" "00372738" "04214" "00373494" "04214" "00373495" "04214" "00373496" "04214" "00373528" "04214" "00373529" "04214" "00373855" "04214" "00373885" "04214" "00373888" "04214" "00373926" "04214" "00374918" "04214" "00374936" "04214" "00374964" "04214" "00374965" "04214" "00375410" "04214" "00375426" "04214" "00375438" "04214" "00376341" "04214" "00376792" "04214" "00376821" "04214" "00377180" "04214" "00377263" "04214" "00377266" "04214" "00377267" "04214" "00377272" "04214" "00377392" "04214" "00377718" "04214" "00377799" "04214" "00377803" "04214" "00377804" "04214" "00377956" "04214" "00378027" "00112" "00379560" "04214" "00379565" "04214" "00379773" "04210" "00379859" "04214" "00380105" "04214" "00380106" "04214" "00380120" "04214" "00380916" "04214" "00381003" "04214" "00381018" "04214" "00381627" "04214" "00381662" "04214" "00381712" "04214" "00381715" "04214" "00381892" "04214" "00381955" "04214" "00382142" "02732" "00382285" "04214" "00382346" "04214" "00382348" "04214" "00382349" "04214" "00382350" "04214" "00382441" "04214" "00382452" "04214" "00382578" "04214" "00382804" "04214" "00382845" "04214" "00383506" "04214" "00383664" "04214" "00383665" "04214" "00383666" "04214" "00383667" "04214" "00383668" "04214" "00383669" "04214" "00383670" "04214" "00383671" "04214" "00383672" "04214" "00383673" "04214" "00383674" "04214" "00383675" "04214" "00383676" "04214" "00383677" "04214" "00383678" "04214" "00383679" "04214" "00383680" "04214" "00383681" "04214" "00383682" "04214" "00383683" "04214" "00383684" "04214" "00383685" "04214" "00383686" "04214" "00383687" "04214" "00383688" "04214" "00383689" "04214" "00383690" "04214" "00383691" "04214" "00383692" "04214" "00383693" "04214" "00383694" "04214" "00383695" "04214" "00383696" "04214" "00383697" "04214" "00383698" "04214" "00383778" "04214" "00383779" "04214" "00383856" "04214" "00383861" "04214" "00383862" "04214" "00383863" "04214" "00383866" "04214" "00383929" "04214" "00383948" "04214" "00384038" "04214" "00384046" "04214" "00384172" "04214" "00384202" "04214" "00384423" "04214" "00384440" "04214" "00384745" "04214" "00384769" "04214" "00384770" "04214" "00384771" "04214" "00384772" "04214" "00384773" "04214" "00385029" "04214" "00385173" "04214" "00385610" "04214" "00386200" "04214" "00386255" "04214" "00386288" "04214" "00386289" "04214" "00386290" "04214" "00386657" "04214" "00386870" "04214" "00386893" "04214" "00387073" "04214" "00387513" "04214" "00388549" "04214" "00389292" "04214" "00389356" "04214" "00389438" "04214" "00389535" "04214" "00389561" "04214" "00389576" "04214" "00389577" "04214" "00389594" "04214" "00389598" "04214" "00389742" "04214" "00389764" "04214" "00389768" "04214" "00389772" "04214" "00389773" "04214" "00389774" "04214" "00389778" "04214" "00389779" "04214" "00389791" "04214" "00389792" "04214" "00389793" "04214" "00389794" "04214" "00389830" "04214" "00389831" "04214" "00389832" "04214" "00389841" "04214" "00389962" "04214" "00390022" "04215" "00390344" "04214" "00390345" "04214" "00390346" "04214" "00390347" "04214" "00390348" "04214" "00390349" "04214" "00390877" "04214" "00390925" "04214" "00390942" "04214" "00390983" "04214" "00391180" "04214" "00391181" "04214" "00391182" "04214" "00391365" "04214" "00391564" "04214" "00391565" "04214" "00393313" "04214" "00393342" "04214" "00393343" "04214" "00393741" "04214" "00393782" "04214" "00393881" "04214" "00395765" "04214" "00395776" "04214" "00395905" "04214" "00395906" "04214" "00395940" "04214" "00396424" "04214" "00396464" "04214" "00406376" "04214" "00407355" "04214" "00408399" "05412" "00408400" "05412" "00410354" "04214" "00410355" "04214" "00410356" "04214" "00410377" "04214" "00410378" "04214" "00410379" "04214" "00410380" "04214" "00410381" "04214" "00410382" "04214" "00410383" "04214" "00410384" "04214" "00410385" "04214" "00410386" "04214" "00410393" "04214" "00410394" "04214" "00410395" "04214" "00410396" "04214" "00410397" "04214" "00410398" "04214" "00410399" "04214" "00410401" "04214" "00410402" "04214" "00410403" "04214" "00410404" "04214" "00410405" "04214" "00410406" "04214" "00410407" "04214" "00410408" "04214" "00410409" "04214" "00410410" "04214" "00410411" "04214" "00410412" "04214" "00410469" "04214" "00410470" "04214" "00410471" "04214" "00410472" "04214" "00410473" "04214" "00410474" "04214" "00410475" "04214" "00410476" "04214" "00410477" "04214" "00410478" "04214" "00410479" "04214" "00410480" "04214" "00410481" "04214" "00410482" "04214" "00410483" "04214" "00410484" "04214" "00410485" "04214" "00410486" "04214" "00410487" "04214" "00410488" "04214" "00410491" "04214" "00410492" "04214" "00410493" "04214" "00410494" "04214" "00410495" "04214" "00410496" "04214" "00410497" "04214" "00410498" "04214" "00410499" "04214" "00410500" "04214" "00410501" "04214" "00410502" "04214" "00410503" "04214" "00410504" "04214" "00410505" "04214" "00410506" "04214" "00410507" "04214" "00410508" "04214" "00410509" "04214" "00410510" "04214" "00410511" "04214" "00410512" "04214" "00410513" "04214" "00410514" "04214" "00410515" "04214" "00410516" "04214" "00410518" "04214" "00410519" "04214" "00410520" "04214" "00410521" "04214" "00410522" "04214" "00410523" "04214" "00410524" "04214" "00410525" "04214" "00410526" "04214" "00410527" "04214" "00410528" "04214" "00410529" "04214" "00410530" "04214" "00410531" "04214" "00410532" "04214" "00410533" "04214" "00410534" "04214" "00410535" "04214" "00410536" "04214" "00410537" "04214" "00410538" "04214" "00419713" "04214" "00419714" "04214" "00419715" "04214" "00420394" "04214" "00420412" "04214" "00420453" "04214" "00420526" "04214" "00420538" "04214" "00425880" "04214" "00425888" "04214" "00429605" "00112" "00429609" "00112" "00429665" "04214" "00429682" "00112" "00429686" "00112" "00429751" "00112" "00429777" "00112" "00429838" "00112" "00429878" "04210" "00429898" "04214" "00429919" "00112" "00429929" "04210" "00429932" "00112" "00430011" "00112" "00430100" "00112" "00430914" "04214" "00435132" "03257" "00436465" "02467" "00436472" "02467" "00436474" "02467" "00436589" "02952" "00446958" "00198" "00447017" "00198" "00447103" "00198" "00447124" "00198" "00447333" "00198" "00447582" "00198" "00447617" "00198" "00447641" "00198" "00447642" "00198" "00447666" "00198" "00447668" "00198" "00447705" "00198" "00447723" "00198" "00449984" "04214" "00449985" "04214" "00450911" "04249" "00450912" "04249" "00450913" "04249" "00450914" "04249" "00450915" "04249" "00450916" "04249" "00450917" "04249" "00450918" "04249" "00450919" "04249" "00450920" "04249" "00450921" "04249" "00450922" "04249" "00450923" "04249" "00450924" "04249" "00450925" "04249" "00450926" "04249" "00450927" "04249" "00450928" "04249" "00450929" "04249" "00450930" "04249" "00450931" "04249" "00450932" "04249" "00451059" "04249" "00451080" "04249" "00451207" "04249" "00451354" "04249" "00451546" "00198" "00451547" "00198" "00451548" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00058, 00112, 00198, 00381, 02467, 02732, 02733, 02952, 03087, 03176, 03257, 04210, 04211, 04213, 04214, 04215, 04249, 05412 ## Count = 469 "{{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}}" "0000026253" "03087" "00032824" "00223" "Unknown" "" "retinal degeneration" "" "" "" "" "" "" "" "" "" "" "" "0000026254" "03087" "00032825" "00223" "Unknown" "" "retinal degeneration" "" "" "" "" "" "" "" "" "" "" "" "0000026255" "02467" "00032826" "00223" "Unknown" "" "macular degeneration" "" "" "" "" "" "" "" "" "" "" "" "0000026256" "02732" "00032827" "00223" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026257" "00198" "00032828" "00223" "Unknown" "" "RP-BEM" "" "" "" "" "" "" "" "" "" "" "" "0000026258" "02732" "00032829" "00223" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026259" "02733" "00032830" "00223" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026260" "00058" "00032831" "00223" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000026534" "04214" "00033105" "00229" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026570" "04214" "00033141" "00229" "Unknown" "16y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026576" "04214" "00033147" "00229" "Unknown" "18y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026780" "04214" "00033351" "00039" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000027108" "04214" "00033679" "01244" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000074223" "04211" "00095946" "01769" "Familial, autosomal recessive" "" "Progressive RP" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000128025" "04214" "00155525" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000128026" "04210" "00155526" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000138725" "04214" "00173872" "02449" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "RP-38" "retinitis pigmentosa" "" "0000157607" "00381" "00209002" "00006" "Familial, autosomal recessive" "" "Retinal dystrophy" "" "" "" "" "" "" "" "" "RP-41" "retinal dystrophy" "" "0000226950" "04214" "00299640" "00006" "Familial, autosomal recessive" "37y" "see paper; ..., 20y-reduced acuity (HP:0007663), mild nyctalopia (HP:0000662), blind spots (HP:0000575); irregular peripheral pigment (HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), vitreous opacities (HP:0007648), attenuated sheathed vessels (HP:0007843), peripheral retinal exudate (HP:0001147); 30y-subnormal PERG, rod specific ERG markedly subnormal, bright flash subnormal with unusual bifid b waves, cone specific delayed and subnormal, profound rod>cone dysfunction; 29y-colour vision Ishihara R 17/17 L 13/17; 36y-octopus visual fields central 20-30 degrees retained on R, 30-50 degrees on L;37y 24-2 central scotomas, fields constricted to 15 degrees each eye; presenting VA logMAR (Snellen) R 0.3 (20/40), L 0.18 (20/30); latest VA logMAR R 0.6 (20/80), L 0.6 (20/80); latest refractive error, dioptres R 0/-0.50x100, L +1.00/-0.75x110" "20y" "" "" "" "" "" "" "" "RP78" "retinitis pigmentosa" "" "0000233816" "04214" "00308389" "00004" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000233817" "04214" "00308390" "00004" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000233818" "04214" "00308391" "00004" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000233819" "04214" "00308392" "00004" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000233820" "04214" "00308393" "00004" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000233828" "04214" "00308401" "00004" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000234088" "04214" "00308660" "00004" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000234624" "04214" "00309304" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" "" "0000234625" "04214" "00309305" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234626" "04214" "00309306" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" "" "0000234990" "04214" "00309671" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000243071" "04213" "00324526" "03960" "Familial, autosomal recessive" "" "see paper; ..., decreased central vision (HP:0007663), extreme photophobia (HP:0000613), progressive visual loss in both eyes (HP:0000529), dyschromatopsia (HP:0007641), absent rod-and cone-mediated responses on ERG (HP:0007688)" "06y" "20y" "photophobia, reduiced visual acuity" "" "" "" "" "" "" "cone dystrophy" "" "0000244004" "04214" "00325517" "00006" "Unknown" "" "macular dystrophy" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000244014" "04214" "00325527" "00006" "Unknown" "" "macular dystrophy" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000245278" "04213" "00326802" "03849" "Familial, autosomal recessive" "20y" "photophobia (HP:0000613), progressive visual loss in both eyes (HP:0000529), reduced visual acuity (HP:0007663), Dyschromatopsia (HP:0007641), Absent rod-and cone-mediated responses on ERG (HP:0007688)" "" "" "photophobia (HP:0000613)" "" "" "" "" "" "" "cone dystrophy" "" "0000246142" "04214" "00327915" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000246182" "04214" "00327955" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000246435" "04214" "00328208" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000246503" "04214" "00328276" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000246530" "04214" "00328303" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000246535" "04214" "00328308" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000246570" "04214" "00328343" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000249488" "04214" "00331295" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000250159" "04214" "00331968" "00000" "Familial, autosomal dominant" "32y" "reduced visual acuity; scotopic ERG extinguished; photopic ERG extinguished" "16y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250160" "04214" "00331969" "00000" "Familial, autosomal recessive" "28y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG extinguished" "" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250161" "04214" "00331970" "00000" "Familial, autosomal dominant" "44y" "reduced visual acuity; scotopic ERG extinguished; photopic ERG extinguished" "6y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250162" "04214" "00331971" "00000" "Familial, autosomal recessive" "28y" "night vision problems; scotopic ERG not analyzable; photopic ERG not analyzable" "" "" "night vision problems" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250163" "04214" "00331972" "00000" "Familial, autosomal recessive" "24y" "reduced visual acuity; scotopic ERG normalreduced; photopic ERG borderline" "18y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250238" "04214" "00332047" "00000" "Familial, autosomal dominant" "33y" "reduced visual acuity; scotopic ERG normal; photopic ERG normal" "31y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" "" "0000250397" "04214" "00332210" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000250416" "04214" "00332229" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000250417" "04214" "00332230" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone dystrophy" "" "0000250454" "04214" "00332267" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis, early-onset retinal dystrophy" "" "0000250469" "04214" "00332282" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis, early-onset retinal dystrophy" "" "0000251520" "04214" "00333334" "00000" "Unknown" "" "" "25y" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000251521" "04214" "00333335" "00000" "Unknown" "" "" "4y" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000251522" "04214" "00333336" "00000" "Familial, autosomal recessive" "" "" "6y" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000251801" "04214" "00333617" "00000" "Familial, autosomal dominant" "48y" "clinical category IA1b" "" "" "" "" "" "" "" "" "" "cone rod dystrophy" "" "0000251889" "04214" "00333705" "00000" "Familial, autosomal dominant" "32y" "clinical category IIC" "" "" "" "" "" "" "" "" "" "pattern dystrophy v retinitis pigmentosa" "" "0000251915" "04214" "00333731" "00000" "Familial, autosomal dominant" "49y" "clinical category IID" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000251916" "04214" "00333732" "00000" "Familial, autosomal dominant" "58y" "clinical category IID" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000252114" "04214" "00333929" "00000" "Familial, autosomal recessive" "32y" "clinical category IA1b" "" "" "" "" "" "" "" "" "" "cone rod dystrophy" "" "0000252115" "04214" "00333930" "00000" "Familial, autosomal recessive" "25y" "clinical category IA1b" "" "" "" "" "" "" "" "" "" "cone rod dystrophy" "" "0000252511" "04214" "00334422" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252512" "04214" "00334423" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252557" "04214" "00334468" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252605" "04214" "00334565" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252683" "04214" "00334897" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252684" "04214" "00334898" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252857" "00198" "00335142" "00000" "Unknown" "" "Usher syndrome" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252858" "00198" "00335143" "00000" "Familial, autosomal dominant" "" "26y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252859" "00198" "00335144" "00000" "Unknown" "" "10y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000252952" "04214" "00335237" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000252995" "04214" "00335280" "02485" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253027" "04214" "00335312" "02485" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253028" "04214" "00335313" "02485" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253350" "04214" "00335404" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253532" "04214" "00335587" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253533" "04214" "00335588" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000253534" "04214" "00335589" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254255" "04214" "00358957" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254278" "04214" "00358980" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000254334" "04214" "00359037" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000254341" "04214" "00359044" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000254342" "04214" "00359045" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000254372" "04214" "00359075" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis or early onset rod-cone dystrophy" "" "0000254404" "04214" "00359107" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254439" "04214" "00359142" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254477" "04214" "00359180" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254491" "04214" "00359194" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa or rod-cone dystrophy" "" "0000254631" "04214" "00359335" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000257575" "04214" "00362161" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000258264" "04214" "00362898" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000258265" "04214" "00362899" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000258294" "04214" "00362928" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000258299" "04214" "00362933" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000258825" "04214" "00363464" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000258939" "04214" "00363589" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" "" "0000259035" "04214" "00363685" "00000" "Isolated (sporadic)" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" "" "0000259104" "04214" "00363754" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, cone-rod dystrophy" "" "0000263477" "04214" "00368139" "01695" "Isolated (sporadic)" "" "Visual acuity was 20/200 in the right eye and 20/40 in the left eye after correcting for moderate refractive error (?6.5 ? 0.25 × 50 right eye; ?6.25 ? 0.25 × 190 left eye). Intro-ocular pressures (IOP) were 12 mmHg and optic cup-to-disk ratios 0.2 in both eyes. Slit-lamp examination of the anterior segment was unremarkable. Dilated fundus examination found granular mottling of the retinal pigment epithelium (RPE) and welldelineated lesions of chorioretinal atrophy in both eyes. Fundus autofluorescence (FAF) imaging confirmed the presence of bright granular deposition corresponding to the RPE mottling observed on fundoscopy. Peripapillary sparing of disease changes around the optic nerve, a pathognomonic feature of ABCA4, was noted in both eyes." "30y" "" "central vision loss" "" "" "" "" "" "STGD1" "Stargardt disease" "" "0000264294" "04214" "00368956" "01695" "Unknown" "" "" "<11y" "" "unknown" "" "" "" "" "" "" "Bull’s-eye maculopathy, cone dystrophy" "" "0000267903" "04214" "00372624" "00000" "Isolated (sporadic)" "41y" "see paper; ..." "31y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267917" "04214" "00372638" "00000" "Isolated (sporadic)" "24y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267947" "04214" "00372668" "00000" "Familial, autosomal recessive" "6y" "see paper; ..." "<10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267953" "04214" "00372674" "00000" "Familial, autosomal recessive" "34y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267955" "04214" "00372676" "00000" "Familial, autosomal recessive" "20y" "see paper; ..." "15y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267958" "04214" "00372679" "00000" "Familial, X-linked" "5y" "see paper; ..." "5y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267964" "04214" "00372685" "00000" "Isolated (sporadic)" "34y" "see paper; ..." "6y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267973" "04214" "00372694" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267975" "04214" "00372696" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267986" "04214" "00372707" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267989" "04214" "00372710" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000267994" "04214" "00372715" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268010" "04214" "00372731" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268017" "04214" "00372738" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000268770" "04214" "00373494" "00000" "Familial, autosomal recessive" "23y" "see paper; ..." "5m" "" "" "" "" "" "" "" "" "retinitis pigmentosa, macula degeneration" "" "0000268771" "04214" "00373495" "00000" "Familial, autosomal recessive" "21y" "see paper; ..." "7m" "" "" "" "" "" "" "" "" "retinitis pigmentosa, macula degeneration" "" "0000268772" "04214" "00373496" "00000" "Familial, autosomal recessive" "19y" "see paper; ..." "12m" "" "" "" "" "" "" "" "" "retinitis pigmentosa, macula degeneration" "" "0000268804" "04214" "00373528" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt macular dystrophy" "" "0000268805" "04214" "00373529" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt macular dystrophy" "" "0000269064" "04214" "00373855" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000269094" "04214" "00373885" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000269097" "04214" "00373888" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000269135" "04214" "00373926" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270128" "04214" "00374918" "00000" "Isolated (sporadic)" "21y" "best corrected visual acuity 0.2/0.2" "15y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270146" "04214" "00374936" "00000" "Familial, autosomal dominant" "41y" "best corrected visual acuity 0.1/0.08" "21y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270174" "04214" "00374964" "00000" "Familial, autosomal recessive" "48y" "best corrected visual acuity light perception/light perception" "18y" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000270175" "04214" "00374965" "00000" "Familial, autosomal dominant" "43y" "best corrected visual acuity 0.16/0.1" "30y" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000270624" "04214" "00375410" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270640" "04214" "00375426" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270652" "04214" "00375438" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000271549" "04214" "00376341" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000272003" "04214" "00376792" "00000" "Unknown" "20y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272031" "04214" "00376821" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272338" "04214" "00377180" "00000" "Isolated (sporadic)" "7y" "see paper" "9m" "4y" "" "" "" "" "" "" "" "retinal disease" "" "0000272421" "04214" "00377263" "00000" "Familial, autosomal recessive" "57y" "see paper" "" "" "" "" "" "" "" "" "retinitis pigmentosa, type 41 (RP41)" "retinal disease" "" "0000272424" "04214" "00377266" "00000" "Familial, autosomal recessive" "26y" "see paper" "15y" "16y" "" "" "" "" "" "" "retinitis pigmentosa, type 41 (RP41)" "retinal disease" "" "0000272425" "04214" "00377267" "00000" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "retinitis pigmentosa, type 41 (RP41)" "retinal disease" "" "0000272430" "04214" "00377272" "00000" "Familial, autosomal recessive" "38y" "see paper" "3y" "7y" "" "" "" "" "" "" "retinitis pigmentosa, type 41 (RP41)" "retinal disease" "" "0000272542" "04214" "00377392" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "RP41" "retinitis pigmentosa" "" "0000272869" "04214" "00377718" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Autosomal Dominant Retinitis Pigmentosa" "" "0000272945" "04214" "00377799" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "ConeRod Dystrophy" "" "0000272949" "04214" "00377803" "00000" "Unknown" "18y" "" "13y" "" "" "" "" "" "" "" "" "ConeRod Dystrophy" "" "0000272950" "04214" "00377804" "00000" "Unknown" "16y" "" "9y" "" "" "" "" "" "" "" "" "ConeRod Dystrophy" "" "0000273102" "04214" "00377956" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000273173" "00112" "00378027" "03508" "Familial, autosomal dominant" "" "HP:0032122, HP:0000662, HP:0001139, HP:0000006, HP:0000510" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000273627" "04210" "00379773" "03508" "Familial, autosomal recessive" "" "HP:0032122,\tHP:0000662,\tHP:0000613,\tHP:0001129,\tHP:0000639,\tHP:0000551" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000273713" "04214" "00379859" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000273959" "04214" "00380105" "00000" "Unknown" "79y" "Central geographic atrophy surrounded by intermediate to large drusen and some peripheral drusen" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000273960" "04214" "00380106" "00000" "Unknown" "81y" "Drusen deposition throughout the macula" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000273974" "04214" "00380120" "00000" "Unknown" "91y" "Small to intermediate hard drusen extending beyond the vascular arcades into the periphery" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000274769" "04214" "00380916" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa 41" "" "0000274854" "04214" "00381003" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000274869" "04214" "00381018" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa (RP)" "" "0000275469" "04214" "00381627" "00000" "Isolated (sporadic)" "" "" "26y" "" "" "" "" "" "" "" "" "Autosomal recessive retinitis pigmentosa, arRP" "" "0000275504" "04214" "00381662" "00000" "Familial, autosomal recessive" "" "" "2y" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000275554" "04214" "00381712" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000275557" "04214" "00381715" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000275734" "04214" "00381892" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000275797" "04214" "00381955" "00000" "Familial, autosomal recessive" "50y" "BCVA OD-OS:light perception; nystagmus; strabismus" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "" "0000275984" "02732" "00382142" "00000" "Familial, autosomal dominant" "" "retinal dystrophy; MIM, 608051" "" "" "" "" "" "" "" "" "" "MIM, 608051" "" "0000276134" "04214" "00382285" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276195" "04214" "00382346" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease" "" "0000276197" "04214" "00382348" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Macular dystrophy unspecified" "" "0000276198" "04214" "00382349" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276199" "04214" "00382350" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276290" "04214" "00382441" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276301" "04214" "00382452" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276427" "04214" "00382578" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000276660" "04214" "00382804" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000276701" "04214" "00382845" "00000" "Familial, autosomal recessive" "22y" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy (CRD)" "" "0000277291" "04214" "00383506" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Cone dystrophy" "" "0000277449" "04214" "00383664" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Macular dystrophy" "" "0000277450" "04214" "00383665" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000277451" "04214" "00383666" "00000" "Familial, autosomal recessive" "" "" "" "14y" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000277452" "04214" "00383667" "00000" "Familial, autosomal recessive" "" "" "" "26y" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000277453" "04214" "00383668" "00000" "Familial, autosomal dominant" "" "" "" "65y" "" "" "" "" "" "" "" "Macular dystrophy" "" "0000277454" "04214" "00383669" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000277455" "04214" "00383670" "00000" "Familial, autosomal recessive" "" "" "" "3y" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000277456" "04214" "00383671" "00000" "Familial, autosomal recessive" "" "" "" "16y" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000277457" "04214" "00383672" "00000" "Familial, autosomal recessive" "" "" "" "21y" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000277458" "04214" "00383673" "00000" "Familial, autosomal recessive" "" "" "" "20y" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000277459" "04214" "00383674" "00000" "Familial, autosomal recessive" "" "" "" "22y" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000277460" "04214" "00383675" "00000" "Familial, autosomal recessive" "" "" "" "9y" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000277461" "04214" "00383676" "00000" "Familial, autosomal recessive" "" "" "" "8y" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000277462" "04214" "00383677" "00000" "Familial, autosomal recessive" "" "" "" "18y" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000277463" "04214" "00383678" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000277464" "04214" "00383679" "00000" "Familial, autosomal dominant" "" "" "" "45y" "" "" "" "" "" "" "" "Cone-rod dystrophy/Macular dystrophy" "" "0000277465" "04214" "00383680" "00000" "Familial, autosomal dominant" "" "" "" "54y" "" "" "" "" "" "" "" "Cone-rod dystrophy/Macular dystrophy" "" "0000277466" "04214" "00383681" "00000" "Familial, autosomal dominant" "" "" "" "60y" "" "" "" "" "" "" "" "Cone-rod dystrophy/Macular dystrophy" "" "0000277467" "04214" "00383682" "00000" "Familial, autosomal dominant" "" "" "" "4y" "" "" "" "" "" "" "" "Cone-rod dystrophy/Macular dystrophy" "" "0000277468" "04214" "00383683" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277469" "04214" "00383684" "00000" "Familial, autosomal recessive" "" "" "" "12y" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000277470" "04214" "00383685" "00000" "Familial, autosomal recessive" "" "" "" "13y" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000277471" "04214" "00383686" "00000" "Familial, autosomal recessive" "" "" "" "26y" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277472" "04214" "00383687" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000277473" "04214" "00383688" "00000" "Familial, autosomal recessive" "" "" "" "18y" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000277474" "04214" "00383689" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277475" "04214" "00383690" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277476" "04214" "00383691" "00000" "Familial, autosomal recessive" "" "" "" "40y" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000277477" "04214" "00383692" "00000" "Familial, autosomal recessive" "" "" "" "28y" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000277478" "04214" "00383693" "00000" "Familial, autosomal dominant" "" "" "" "33y" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277479" "04214" "00383694" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277480" "04214" "00383695" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000277481" "04214" "00383696" "00000" "Familial, autosomal recessive" "" "" "" "25y" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000277482" "04214" "00383697" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277483" "04214" "00383698" "00000" "Familial, autosomal recessive" "" "" "" "18y" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000277563" "04214" "00383778" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000277564" "04214" "00383779" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000277641" "04214" "00383856" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Pattern dystrophy" "" "0000277646" "04214" "00383861" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 1" "" "0000277647" "04214" "00383862" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Pattern dystrophy" "" "0000277648" "04214" "00383863" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 1" "" "0000277651" "04214" "00383866" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000277714" "04214" "00383929" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000277733" "04214" "00383948" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000277823" "04214" "00384038" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000277831" "04214" "00384046" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000277957" "04214" "00384172" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy" "" "0000277987" "04214" "00384202" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000278208" "04214" "00384423" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000278225" "04214" "00384440" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease ?" "" "0000278528" "04214" "00384745" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278552" "04214" "00384769" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278553" "04214" "00384770" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278554" "04214" "00384771" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278555" "04214" "00384772" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278556" "04214" "00384773" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000278813" "04214" "00385029" "00000" "Isolated (sporadic)" "29y" "nyctalopia, nystagmus, no oculodigital sign, best corrected visual acuity right/left eye: 0.04/0.04" "1y" "" "" "" "" "" "" "" "Leber congenital amaurosis" "Leber congenital amaurosis" "" "0000278969" "04214" "00385173" "00000" "Familial, autosomal recessive" "16y6m" "HP:0001251 Ataxia; HP:0000556 Retinal dystrophy" "" "" "" "" "" "" "" "" "" "Autosomal Recessive Retinal Dystrophy" "" "0000279405" "04214" "00385610" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa (RP)" "" "0000280003" "04214" "00386200" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000280058" "04214" "00386255" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000280091" "04214" "00386288" "00000" "Familial, autosomal recessive" "48y" "" "" "9y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000280092" "04214" "00386289" "00000" "Familial, autosomal recessive" "51y" "" "" "8y" "" "" "" "" "" "" "early onset retinitis pigmentosa" "" "" "0000280093" "04214" "00386290" "00000" "Familial, autosomal recessive" "55y" "" "" "13y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000280457" "04214" "00386657" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280670" "04214" "00386870" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280693" "04214" "00386893" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280851" "04214" "00387073" "00000" "Familial, autosomal recessive" "50y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal recessive" "" "" "0000281076" "04214" "00387513" "00000" "Unknown" "" "" "48y" "" "" "" "" "" "" "" "" "Pericentral Retinal Degeneration (PRD) simplex" "" "0000282089" "04214" "00388549" "00000" "Isolated (sporadic)" "" "Non‐syndrom" "" "18y" "" "" "" "" "" "" "Retinitis pigmentosa type 41" "Retinitis pigmentosa" "" "0000282833" "04214" "00389292" "00000" "Familial, autosomal recessive" "49y" "age at genetic diagnosis mentioned" "" "44y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000282897" "04214" "00389356" "00000" "Familial, autosomal recessive" "56y" "age at genetic diagnosis mentioned" "" "50y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000282979" "04214" "00389438" "00000" "Familial, autosomal dominant" "29y" "age at genetic diagnosis mentioned" "" "24y" "" "" "" "" "" "" "Stargardt Disease" "" "" "0000283076" "04214" "00389535" "00000" "Familial, autosomal recessive" "27y" "age at genetic diagnosis mentioned" "" "25y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000283102" "04214" "00389561" "00000" "Familial, autosomal dominant" "68y" "age at genetic diagnosis mentioned" "" "67y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000283117" "04214" "00389576" "00000" "Familial, autosomal dominant" "69y" "age at genetic diagnosis mentioned" "" "64y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000283118" "04214" "00389577" "00000" "Familial, autosomal dominant" "71y" "age at genetic diagnosis mentioned" "" "66y" "" "" "" "" "" "" "autosomal dominant retinitis pigmentosa" "" "" "0000283135" "04214" "00389594" "00000" "Familial, autosomal recessive" "25y" "age at genetic diagnosis mentioned" "" "19y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000283139" "04214" "00389598" "00000" "Familial, autosomal dominant" "37y" "age at genetic diagnosis mentioned" "" "36y" "" "" "" "" "" "" "macular dystrophy" "" "" "0000283283" "04214" "00389742" "00000" "Familial, autosomal dominant" "37y" "age at genetic diagnosis mentioned" "" "32y" "" "" "" "" "" "" "cone dystrophy" "" "" "0000283305" "04214" "00389764" "00000" "Familial, autosomal recessive" "52y" "age at genetic diagnosis mentioned" "" "47y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000283309" "04214" "00389768" "00000" "Familial, autosomal recessive" "32y" "age at genetic diagnosis mentioned" "" "27y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000283313" "04214" "00389772" "00000" "Familial, autosomal recessive" "54y" "age at genetic diagnosis mentioned" "" "51y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000283314" "04214" "00389773" "00000" "Familial, autosomal recessive" "30y" "age at genetic diagnosis mentioned" "" "27y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000283315" "04214" "00389774" "00000" "Familial, autosomal recessive" "39y" "age at genetic diagnosis mentioned" "" "36y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000283319" "04214" "00389778" "00000" "Familial, autosomal recessive" "23y" "age at genetic diagnosis mentioned" "" "23y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000283320" "04214" "00389779" "00000" "Familial, autosomal recessive" "27y" "age at genetic diagnosis mentioned" "" "26y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000283332" "04214" "00389791" "00000" "Familial, autosomal dominant" "53y" "age at genetic diagnosis mentioned" "" "51y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000283333" "04214" "00389792" "00000" "Familial, autosomal dominant" "24y" "age at genetic diagnosis mentioned" "" "22y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000283334" "04214" "00389793" "00000" "Familial, autosomal recessive" "19y" "age at genetic diagnosis mentioned" "" "16y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000283335" "04214" "00389794" "00000" "Familial, autosomal recessive" "25y" "age at genetic diagnosis mentioned" "" "22y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000283371" "04214" "00389830" "00000" "Isolated (sporadic)" "43y" "age at genetic diagnosis mentioned" "" "43y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283372" "04214" "00389831" "00000" "Familial, autosomal recessive" "14y" "age at genetic diagnosis mentioned" "" "12y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000283373" "04214" "00389832" "00000" "Familial, autosomal recessive" "18y" "age at genetic diagnosis mentioned" "" "17y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000283382" "04214" "00389841" "00000" "Isolated (sporadic)" "20y" "age at genetic diagnosis mentioned" "" "15y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283503" "04214" "00389962" "00000" "Isolated (sporadic)" "45y" "age at genetic diagnosis mentioned" "" "44y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283562" "04215" "00390022" "03840" "Familial, autosomal dominant" "25y" "Fndus: macular atrophy, hyper-reflective deposition, thinning of the retina in the macular area" "15y" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000283882" "04214" "00390344" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283883" "04214" "00390345" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" "" "0000283884" "04214" "00390346" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283885" "04214" "00390347" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" "" "0000283886" "04214" "00390348" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283887" "04214" "00390349" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284365" "04214" "00390877" "00000" "Unknown" "36y-40y" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy (CRD)" "" "0000284413" "04214" "00390925" "00000" "Familial, autosomal recessive" "16y-20y" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy (CRD)" "" "0000284430" "04214" "00390942" "00000" "Unknown" "51y-55y" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy (CRD)" "" "0000284471" "04214" "00390983" "00000" "Familial, autosomal recessive" "21y-25y" "" "" "" "" "" "" "" "" "" "" "macular dystrophy (MD)" "" "0000284622" "04214" "00391180" "00000" "Unknown" "30y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284623" "04214" "00391181" "00000" "Unknown" "33y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284624" "04214" "00391182" "00000" "Unknown" "53y" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000284805" "04214" "00391365" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Cone-rod dystrophy 12 (612657)" "Cone-rod dystrophy 12 (612657)" "" "0000284900" "04214" "00391564" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "rod-cone dystrophy" "" "0000284901" "04214" "00391565" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000286554" "04214" "00393313" "00000" "Isolated (sporadic)" "42y" "" "" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" "" "0000286583" "04214" "00393342" "00000" "Isolated (sporadic)" "56y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000286584" "04214" "00393343" "00000" "Isolated (sporadic)" "9y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000286947" "04214" "00393741" "00000" "Familial, autosomal dominant" "45y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000286988" "04214" "00393782" "00000" "Isolated (sporadic)" "27y" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" "" "0000287087" "04214" "00393881" "00000" "Familial, autosomal recessive" "34y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000288927" "04214" "00395765" "00000" "Unknown" "24y2m" "" "15y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000288938" "04214" "00395776" "00000" "Unknown" "29y11m" "" "20y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000289067" "04214" "00395905" "00000" "Unknown" "64y5m" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "" "0000289068" "04214" "00395906" "00000" "Unknown" "61y5m" "" "40y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000289102" "04214" "00395940" "00000" "Unknown" "40y10m" "" "33y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000289586" "04214" "00396424" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000289625" "04214" "00396464" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000298863" "04214" "00406376" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000299709" "04214" "00407355" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" "" "0000302458" "04214" "00410354" "00000" "Familial, autosomal dominant" "35y" "slit-lamp biomicroscopic assessment of the anterior segment: normal; funduscopy: waxy-pale discs, discrete attenuation of retinal arterioles, pigmentary bone spicules in the midperipheral retina, alteration in the retinal pigment epithelium in the macular area; myopia axial length (mm) right, left eye: 23.62, 24.22; refraction right/left eye: -0.50; -0.75 x 60deg / -1.00; -2.25 x115deg; best corrected visual acuity right, left eye: light perception, 20/60" "" "" "night blindness in early childhood and bilateral progressive decline in visual acuity" "" "" "" "" "" "autosomal recessive retinitis pigmentosa (arRP) with premature macular atrophy and myopia" "" "" "0000302459" "04214" "00410355" "00000" "Familial, autosomal dominant" "27y" "noncongenital nystagmus; slit-lamp biomicroscopic assessment of the anterior segment: normal; funduscopy: waxy-pale discs, discrete attenuation of retinal arterioles pigmentary bone spicules in the midperipheral retina, alteration in the retinal pigment epithelium in the macular area with sparing of the retinal pigment epithelium in discrete areas of the posterior pole; myopia axial length (mm) right, left eye: 23.84, 23.39; refraction right/left eye: -6.25; -0.50 x 130deg / -5.50; -0.75 x 65deg; best corrected visual acuity right, left eye: 20/800, 20/400; severe nystagmus, complete optical coherence tomography impossible; electroretinograms: undetectable bilaterally; visual field: extensive constriction in both eyes" "" "" "night blindness in early childhood and bilateral progressive decline in visual acuity" "" "" "" "" "" "autosomal recessive retinitis pigmentosa (arRP) with premature macular atrophy and myopia" "" "" "0000302460" "04214" "00410356" "00000" "Familial, autosomal dominant" "18y" "slit-lamp biomicroscopic assessment of the anterior segment: normal; funduscopy: waxy-pale discs, discrete attenuation of retinal arterioles, alteration in the retinal pigment epithelium in the macular area with sparing of the retinal pigment epithelium in discrete areas of the posterior pole; myopia axial length (mm) right, left eye: 25.96, 25.75; refraction right/left eye: -10.00; -1.00 x 25deg / -8.75; -1.50 x 175deg; best corrected visual acuity right, left eye: 20/100, 20/60; complete optical coherence tomography: discrete bilaterally reduced retinal thickness; electroretinograms: undetectable bilaterally; visual field: extensive constriction in both eyes" "" "" "night blindness in early childhood and bilateral progressive decline in visual acuity" "" "" "" "" "" "autosomal recessive retinitis pigmentosa (arRP) with premature macular atrophy and myopia" "" "" "0000302481" "04214" "00410377" "00000" "Familial, autosomal dominant" "60y" "symptoms: subcapsular cataract (50y) night blindness (58y); presenting visual acuity right, left eye: 6/6, 6/6 (39y); current visual acuity right, left eye: 6/7.5, 6/7.5 (50y), 6/12, 6/15 (58y); fundus: bull\'s eye maculopathy (50y) macular atrophy left eye (58y) right eye (62y) peripheral pigment (55y) attenuated arteries (58y) ; fundus autofluorescence: not performed; electroretinogram: undetectable rod and cone responses (55y); pattern electroretinogram: not performed; visual fields: right eye 60deg / left eye 50deg (58y); color vision: not performed" "" "" "" "" "" "" "" "" "bull\'s eye maculopathy associated with rod, rod-cone, and macular dystrophy" "" "" "0000302482" "04214" "00410378" "00000" "Familial, autosomal dominant" "58y" "symptoms: photopsia (35y) reading difficulties (45y) night blindness (46y) visual field loss (58y); presenting visual acuity right, left eye: 6/6, 6/6 (19y); current visual acuity right, left eye: hand movement, 6/6 (46y)<6/120<6/120 (56y); fundus: bull\'s eye maculopathy (46y) macular atrophy (56y) peripheral pigment (46y) attenuated arteries (58y) pale disc (58y); fundus autofluorescence: macular ring; electroretinogram: moderately reduced rod responses, mildly reduced cone responses (46y); pattern electroretinogram: not performed; visual fields: normal (46y), right eye complete loss / left eye 50deg (58y); color vision: not performed" "" "" "" "" "" "" "" "" "bull\'s eye maculopathy associated with rod, rod-cone, and macular dystrophy" "" "" "0000302483" "04214" "00410379" "00000" "Familial, autosomal dominant" "58y" "symptoms: reading difficulties (36y) photophobia (48y) visual field loss (48y night blindness (52y) photopsia (52y); presenting visual acuity right, left eye: 6/4.8, 6/4.8 (34y); current visual acuity right, left eye: 6/4.8, 6/4.8 (34y), 6/15, 6/12 (52y); fundus: bull\'s eye maculopathy (34y) macular atrophy (52y) salt and pepper dystrophy (50y) attenuated arteries (50y) pale disc (56y); fundus autofluorescence: mottled; electroretinogram: undetectable rod responses, severely reduced cone responses (56y); pattern electroretinogram: not performed; visual fields: normal (34y), both eyes 50deg (56y); color vision: not performed" "" "" "" "" "" "" "" "" "bull\'s eye maculopathy associated with rod, rod-cone, and macular dystrophy" "" "" "0000302484" "04214" "00410380" "00000" "Familial, autosomal dominant" "58y" "symptoms: reading difficulties (16y) night blindness (30y); presenting visual acuity right, left eye: 6/4.8, 6/6 (16y); current visual acuity right, left eye: 6/19, 6/19 (28y), 6/60, 6/30 (42y); fundus: bull\'s eye maculopathy (28y) macular atrophy (42y) peripheral pigment (28y) attenuated arteries (28y) pale disc (28y); fundus autofluorescence: mottled; electroretinogram: moderately reduced rod responses, mildly reduced cone responses (35y); pattern electroretinogram: not performed; visual fields: normal (28y), right eye 90deg / left eye 75deg (30y), right eye complete loss / left eye 2–3deg (58y); color vision: not perform" "" "" "" "" "" "" "" "" "bull\'s eye maculopathy associated with rod, rod-cone, and macular dystrophy" "" "" "0000302485" "04214" "00410381" "00000" "Familial, autosomal dominant" "41y" "symptoms: subcapsular cataract (42y) reading difficulties (24y); presenting visual acuity right, left eye: 6/6, 6/15 (24y); current visual acuity right, left eye: 6/6, 6/15 (24y), 6/60, 6/60 (39y); fundus: bull\'s eye maculopathy (24y) macular atrophy (39y) attenuated arteries (39y) pale disc (41y); fundus autofluorescence: macular ring; electroretinogram: moderately reduced rod responses, mildly reduced cone responses (39y); pattern electroretinogram: not performed; visual fields: bilateral central scotomata (39y); color vision: not performed" "" "" "" "" "" "" "" "" "bull\'s eye maculopathy associated with rod, rod-cone, and macular dystrophy" "" "" "0000302486" "04214" "00410382" "00000" "Familial, autosomal dominant" "31y" "symptoms: reading difficulties (14y) photophobia (29y) subcapsular cataract (31y); presenting visual acuity right, left eye: 6/7.5, 6/4.8 (7y); current visual acuity right, left eye: 6/7.5, 6/4.8 (7y), 6/120, 6/60 (26y); fundus: bull\'s eye maculopathy (7y) macular atrophy (26y) attenuated arteries (29y) pale disc (29y); fundus autofluorescence: mottled; electroretinogram: undetectable rod and cone responses (29y); pattern electroretinogram: not performed; visual fields: normal (10y), both eyes 30deg (29y); color vision: not performed" "" "" "" "" "" "" "" "" "bull\'s eye maculopathy associated with rod, rod-cone, and macular dystrophy" "" "" "0000302487" "04214" "00410383" "00000" "Familial, autosomal dominant" "65y" "symptoms: reading difficulties (40y); presenting visual acuity right, left eye: 6/60, 6/60 (64y); current visual acuity right, left eye: 6/60, 6/60; fundus: bilateral macular atrophy and pigmentation (64y); fundus autofluorescence: bilateral reduced macular autofluorescence corresponding to atrophy, surrounded by high intensity autofluorescence rings; electroretinogram: mildly reduced rod responses and borderline cone responses; pattern electroretinogram: markedly reduced; visual fields: bilateral central scotomata (64y); color vision: not performed" "" "" "" "" "" "" "" "" "bull\'s eye maculopathy associated with rod, rod-cone, and macular dystrophy" "" "" "0000302488" "04214" "00410384" "00000" "Familial, autosomal dominant" "32y" "symptoms: central scotomata (29y) right amblyopia; presenting visual acuity right, left eye: 6/18, 6/9 (29y); current visual acuity right, left eye: 6/18, 6/12; fundus: bilateral bull\'s eye maculopathy and optic nerve head drusen (29y); fundus autofluorescence: bilateral perifoveal rings of increased autofluorescence surrounding mildly reduced foveal autofluorescence; electroretinogram: normal; pattern electroretinogram: undetectable; visual fields: bilateral central scotomata (29y); color vision: not performed" "" "" "" "" "" "" "" "" "bull\'s eye maculopathy associated with rod, rod-cone, and macular dystrophy" "" "" "0000302489" "04214" "00410385" "00000" "Familial, autosomal dominant" "44y" "symptoms: photophobia (since childhood); presenting visual acuity right, left eye: 6/5, 6/5 (34y); current visual acuity right, left eye: 6/6, 6/6; fundus: bilateral bull\'s eye maculopathy (34y); fundus autofluorescence: bilateral “bull’s eye’ lesions: ring of decreased perifoveal autofluorescence bordered peripherally > centrally by annuli of increased autofluorescence; electroretinogram: normal (35y); pattern electroretinogram: markedly reduced; visual fields: bilateral central scotomata (34y); color vision: mild generalized dyschroma" "" "" "" "" "" "" "" "" "bull\'s eye maculopathy associated with rod, rod-cone, and macular dystrophy" "" "" "0000302490" "04214" "00410386" "00000" "Familial, autosomal dominant" "54y" "symptoms: reading difficulties (44y) reduced color vision (44y) ; presenting visual acuity right, left eye: 6/9, 6/5 (44y); current visual acuity right, left eye: 6/12, 6/6; fundus: bilateral bull\'s eye maculopathy and optic nerve head drusen (44y); fundus autofluorescence: speckled appearance with areas of increased and decreased autofluorescence; electroretinogram: normal (44y); pattern electroretinogram: markedly reduced; visual fields: bilateral central scotomata (44y); color vision: mild generealized dyschromatopsia" "" "" "" "" "" "" "" "" "bull\'s eye maculopathy associated with rod, rod-cone, and macular dystrophy" "" "" "0000302497" "04214" "00410393" "00000" "Familial, autosomal dominant" "65y" "age-corrected cognitive performance (in italics poor or impaired scores) and extraocular findings: verbal intelligence quotient: 114; verbal learning trials: 46 (50th); verbal learning delay: 7 (25th); verbal recall immediate: 38 (75th); verbal recall %: 105 (90th); fluency phonemic \'s\': 12; fluency animals: 19; Hayling\'s total score: 14; cognitive estimates: 5; extraocular medical history: renal infections, microsmia, miscarriages; magnetic resonance imaging findings: white matter hyperintensities, empty sella turcica; blood/vasculature tests: percentage of flow-mediated dilatation: 4.88; flow-mediated dilatation/glyceryl trinitrate: 0.96; average intima-media thickness (mm): 0.75; angiopoetin (pg/ml): 1838.8; vascular endothelial growth factor (pg/ml): 568; circulating endothelial cell (ml blood): 48; CD 133+: 0.03; CD 34+: 0.2; CD 144+:4.69; KDR/CD34+: 0.05; CD144/CD34+: 0.09; colo" "" "" "" "" "" "" "" "" "autosomal dominant bull\'s eye maculopathy associated with rod, rod–cone, and macular dystrop" "" "" "0000302498" "04214" "00410394" "00000" "Familial, autosomal dominant" "41y" "age-corrected cognitive performance (in italics poor or impaired scores) and extraocular findings: verbal intelligence quotient: 90; verbal learning trials: 46 (25th); verbal learning delay: 9 (10th); verbal recall immediate: 31 (25th); verbal recall %: 90 (50th); fluency phonemic \'s\': 19; fluency animals: 15; Hayling\'s total score: 16; cognitive estimates: 12; extraocular medical history: microsmia; magnetic resonance imaging findings: white matter hyperintensities, empty sel" "" "" "" "" "" "" "" "" "autosomal dominant bull’s eye maculopathy associated with rod, rod–cone, and macular dystr" "" "" "0000302499" "04214" "00410395" "00000" "Familial, autosomal dominant" "44y" "age-corrected cognitive performance (in italics poor or impaired scores) and extraocular findings: verbal intelligence quotient: 96; verbal learning trials: 51 (50th); verbal learning delay: 13 (75th); verbal recall immediate: 43 (90th); verbal recall %: 102 (90th); fluency phonemic \'s\': 16; fluency animals: 26; Hayling\'s total score: 13; cognitive estimates: 8; extraocular medical history: microscopic haematuria, RI, MC; magnetic resonance imaging findings: empty sella turcica; blood/vasculature tests: percentage of flow-mediated dilatation: 4.06; flow-mediated dilatation/glyceryl trinitrate: 0.98; average intima-media thickness (mm): 0.52; angiopoetin (pg/ml): 1030; vascular endothelial growth factor (pg/ml): 643.5; circulating endothelial cell (ml blood): 56; CD 133+: 0; CD 34+: 0.2; CD 144+:1.34; KDR/CD34+: 0.02; CD144/CD34+: 0.08; co" "" "" "" "" "" "" "" "" "autosomal dominant bull’s eye maculopathy associated with rod, rod–cone, and macular dystr" "" "" "0000302500" "04214" "00410396" "00000" "Familial, autosomal dominant" "21y" "age-corrected cognitive performance (in italics poor or impaired scores) and extraocular findings: verbal intelligence quotient: 110; verbal learning trials: 50 (25th); verbal learning delay: 12 (50th); verbal recall immediate: 49 (90th); verbal recall %: 98 (90th); fluency phonemic \'s\': 18; fluency animals: 24; Hayling\'s total score: 18; cognitive estimates: 7; extraocular medical history: steroid-resistant asthma, microscopic haematuria, not examined; magnetic resonance imaging findings: normal; blood/vasculature tests: percentage of flow-mediated dilatation: 12.27; flow-mediated dilatation/glyceryl trinitrate: 1.02; average intima-media thickness (mm): 0.48; angiopoetin (pg/ml): 1234.2; vascular endothelial growth factor (pg/ml): 413.9; circulating endothelial cell (ml blood): 28; CD 133+: 0.05; CD 34+: 0.01; CD 144+:0.76; KDR/CD34+: 0.06; CD144/CD34+: 0.03; colon" "" "" "" "" "" "" "" "" "autosomal dominant bull’s eye maculopathy associated with rod, rod–cone, and macular dystr" "" "" "0000302501" "04214" "00410397" "00000" "Familial, autosomal dominant" "65y" "age-corrected cognitive performance (in italics poor or impaired scores) and extraocular findings: verbal intelligence quotient: 106; verbal learning trials: 22 (1st); verbal learning delay: 6 (10th); verbal recall immediate: 17 (10th); verbal recall %: 88 (50th); fluency phonemic \'s\': 15; fluency animals: 20; Hayling\'s total score: 11; cognitive estimates: 4; extraocular medical history: Normal; magnetic resonance imaging findings: white matter hyperi" "" "" "" "" "" "" "" "" "autosomal dominant bull’s eye maculopathy associated with rod, rod–cone, and macular dystr" "" "" "0000302502" "04214" "00410398" "00000" "Familial, autosomal dominant" "32y" "age-corrected cognitive performance (in italics poor or impaired scores) and extraocular findings: verbal intelligence quotient: 110; verbal learning trials: 56 (50th); verbal learning delay: 14 (75th); verbal recall immediate: 48 (90th); verbal recall %: 92 (50th); fluency phonemic \'s\': 24; fluency animals: 28; Hayling\'s total score: 17; cognitive estimates: 5; extraocular medical history: M; magnetic resonance imaging findings: normal; blood/vasculature tests: percentage of flow-mediated dilatation: ; circulating endothelial cell (ml blood): 16; CD 133+: 0.25; CD 34+: 0.17; CD 144+:; KDR/CD34+: 0.07; CD144/CD34+: 0.02; colon" "" "" "" "" "" "" "" "" "autosomal dominant bull’s eye maculopathy associated with rod, rod–cone, and macular dystr" "" "" "0000302503" "04214" "00410399" "00000" "Familial, autosomal recessive" "20y" "photophobic since early childhood; 10y: bilateral bull\'s eye maculopathy, high myopia. 20y: uncorrected visual acuity right, left eye: 2/200, 4/200; low-amplitude high-frequency pendular nystagmus with full ductions; no strabismus; anterior segment and pupillary examinations: unremarkable; retinal examination: bilateral macular discoloration (replacement of normal darkened appearance by a central reddish-orange hue and surrounding mottling), peripheral mottling with intraretinal pigment clumping; fundus autofluorescence: areas of increased and decreased signal; optical coherence tomography: loss of outer retinal architecture, particularly in the macula; cycloplegic refraction: 9.00 diopters in both eyes; visual acuity did not improve with correction; Goldmann visual fields: depressed central fixation of less than 10 degrees with an inferotemporal island of vision in both eyes; non-recordable electroretinogram b" "" "" "poor vision since the first few years of life, nystagmus 3-4y" "PROM1_000178" "" "" "" "" "cone-rod dystrophy with high myopia" "" "" "0000302504" "04214" "00410401" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302505" "04214" "00410402" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302506" "04214" "00410403" "00000" "Familial, autosomal recessive" "" "severely impaired visual acuity right, left eye: 0.05, 0.05, 26y: severe defects of the peripheral visual field; fundus examination: bone spicule-shaped pigment deposits, retinal vessel attenuation as well as retinal atrophy; electroretinograms: no recordable responses under either scotopic or photopic conditions, indicating a significant loss of function of both the rods and the cones" "8y" "" "night blindness" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302507" "04214" "00410404" "00000" "Familial, autosomal recessive" "" "23y: markedly decreased visual acuity right, left eye: 0.04, 0.04, severe defects of the peripheral visual field; fundus examination: bone spicule-shaped pigment deposits, retinal vessel attenuation as well as retinal atrophy; electroretinograms: no recordable responses under either scotopic or photopic conditions, indicating a significant loss of function of both the rods and the cones" "14y" "" "defective dark adaptation" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302508" "04214" "00410405" "00000" "Familial, autosomal recessive" "17y" "best corrected visual acuity right, left eye: 3/60, 6/60; electroretinogram: single flash amplitude; latency (uV; mS)12; 57; flicker (30Hz) amplitude; latency (uV; mS): 0; dark adaptation rod response (uV): 15; mixed rod-cone (moderate stimulus) (uv):a 11, b 77; mixed rod-cone (bright stimulus) (uV):a 16, b 84; pattern visual evoked potentials: no typical responses were recorded both eyes; flash visual evoked potentials: typical waves of normal latency both eyes; electrooculography Arden ratios right, left eye: 1.92, 1.86; color vision: Ishihara: BE 1st panel not seen D-15: BE no typical axis was observed; visual field:large central scotomas with residual paracentral is" "" "" "" "PROM1_000178" "" "" "" "" "cone-rod dystrophy" "" "" "0000302509" "04214" "00410406" "00000" "Familial, autosomal recessive" "08y" "best corrected visual acuity right, left eye: 6/12, 6/12; electroretinogram: single flash amplitude; latency (uV; mS)0; flicker (30Hz) amplitude; latency (uV; mS): 0; dark adaptation rod response (uV): 0; mixed rod-cone (moderate stimulus) (uv):a 10, b 90; mixed rod-cone (bright stimulus) (uv):a 17, b 76; pattern visual evoked potentials: normal amplitudes and delayed latency both eyes; flash visual evoked potentials: typical waves of normal latency both eyes; electrooculography Arden ratios right, left eye: not determined; color vision: not determined; visual field:paracentral scotomas both eyes" "" "" "" "PROM1_000178" "" "" "" "" "cone-rod dystrophy" "" "" "0000302510" "04214" "00410407" "00000" "Familial, autosomal recessive" "09y" "best corrected visual acuity right, left eye: 6/12, 6/20; electroretinogram: single flash amplitude; latency (uV; mS)14; 42; flicker (30Hz) amplitude; latency (uV; mS): 11; 41; dark adaptation rod response (uV): 0; mixed rod-cone (moderate stimulus) (uv):a 7, b 84; mixed rod-cone (bright stimulus) (uv):a 27, b 89; pattern visual evoked potentials: slightly reduced amplitudes and prolonged latency both eyes; flash visual evoked potentials: typical waves of normal latency both eyes; electrooculography Arden ratios right, left eye: not determined; color vision: not determined; visual field:extensive central scotomas both eyes" "" "" "" "PROM1_000178" "" "" "" "" "cone-rod dystrophy" "" "" "0000302511" "04214" "00410408" "00000" "Unknown" "51y" "visual acuity: 20/30 for both eyes; anterior segment: unremarkable, intraocular pressure: normal; fundus examination: an irregular yellow area in the superior parafoveal area in the right eye and a circumscribed nummular atrophic area in the left eye with a yellow rim; fluorescein angiography: window defect corresponding to the abnormal area in the macula in both eyes; optical coherence tomography: right eye: an outer lamellar defect (hyporeflective area with disruption of the ellipsoid zone and the interdigitation zone) with some hyperreflective material within the defect, left eye: area of circumscribed central atrophy (disruption of the outer nuclear layer, ellipsoid zone, and the interdigitation zone corresponding to the lesion) and some hyperreflective material within the atrophy at the fovea; fundus autofluorescence: central hypofluorescent area corresponding to the area of atrophy surrounded by a rim of hyperautofluorescence; disk drusen in both eyes; color vision testing (Farnswell D15): tritanomaly in both eyes; electrooculogram: abnormal Arden ratio of 1.70 right eye and 1.85 left eye; full-field electroretinogram: rod-mediated responses, the mixed rod and cone-mediated a waves and b waves and cone-mediated responses: normal in amplitude and timing in both eyes" "" "" "" "" "" "" "" "" "macular atrophy" "" "" "0000302512" "04214" "00410409" "00000" "Familial, autosomal recessive" "24y" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "" "0000302513" "04214" "00410410" "00000" "Unknown" "28y" "best corrected visual acuity right, left eye: 20/40 -1, 20/50 +2" "" "" "" "" "" "" "" "" "macular dystrophy" "" "" "0000302514" "04214" "00410411" "00000" "Unknown" "6y" "best corrected visual acuity right, left eye: 20/150, 20/200" "" "" "" "" "" "" "" "" "macular dystrophy" "" "" "0000302515" "04214" "00410412" "00000" "Familial, autosomal dominant" "38y" "family history with dominant inheritance pattern; best corrected visual acuity: 0.6 both eyes; slit lamp biomicroscopy: anterior segments normal; fundus: bilateral atrophic macular lesions with small flecks in the posterior pole; fundus autofluorescence: bull\'s-eye pattern of hypoautofluorescent macular lesions surrounded by hyperautofluorescence; spectral-domain optical coherence tomography: retinal pigment epithelium atrophy and photoreceptor layer defects; visual field test: bilateral central scotoma; full-field electroretinogram: slightly reduced amplitudes in both cone and rod respons" "38y" "" "central visual disturbance without photophobia" "" "" "" "" "" "Stargardt-like macular dystrophy" "" "" "0000302573" "04214" "00410469" "00000" "Familial, autosomal dominant" "" "similar clinical and ophthalmological abnormalities to proband; tunnel vision and loss of peripheral vision" "" "" "" "" "" "" "" "" "Stargardt-like macular dystrophy" "" "" "0000302574" "04214" "00410470" "00000" "Familial, autosomal dominant" "63y" "tunnel vision and loss of peripheral vision; bilateral Bull\'s eye maculopathy; fundus autofluorescence: the absence of a normal darkened presence, replacement of a central reddish orange hue and close mottling (especially in the left eye), bilateral macular discoloration, and peripheral mottling with intraretinal pigment clumping (especially in the right eye); dark choroid with limited staining of some white fundus flecks in both eyes -possible chorioretinal atrophy in the right eye, highlighted by perifoveal and parafoveal hypofluorescent; optical coherence tomography: outer retinal architecture in both eyes was lost, extremely apparent in the macula" "42y" "" "night blindness" "" "" "" "" "" "Stargardt-like macular dystrophy" "" "" "0000302575" "04214" "00410471" "00000" "Familial, autosomal dominant" "" "similar clinical and ophthalmological abnormalities to proband; tunnel vision and loss of peripheral vision decreased central vision and visual acuity, and a prominent presence of fundus flecks in the posterior pole of the retina" "" "" "night blindness" "" "" "" "" "" "Stargardt-like macular dystrophy" "" "" "0000302576" "04214" "00410472" "00000" "Familial, autosomal dominant" "" "similar clinical and ophthalmological abnormalities to proband; tunnel vision and loss of peripheral vision" "" "" "" "" "" "" "" "" "Stargardt-like macular dystrophy" "" "" "0000302577" "04214" "00410473" "00000" "Familial, autosomal dominant" "" "similar clinical and ophthalmological abnormalities to proband; tunnel vision and loss of peripheral vision" "" "" "" "" "" "" "" "" "Stargardt-like macular dystrophy" "" "" "0000302578" "04214" "00410474" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 4" "" "" "0000302579" "04214" "00410474" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 5" "" "" "0000302580" "04214" "00410474" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 6" "" "" "0000302581" "04214" "00410474" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 7" "" "" "0000302582" "04214" "00410474" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 8" "" "" "0000302583" "04214" "00410474" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 9" "" "" "0000302584" "04214" "00410474" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 10" "" "" "0000302585" "04214" "00410474" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 11" "" "" "0000302586" "04214" "00410474" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 12" "" "" "0000302587" "04214" "00410474" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 13" "" "" "0000302588" "04214" "00410474" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 14" "" "" "0000302589" "04214" "00410474" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 15" "" "" "0000302590" "04214" "00410474" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 16" "" "" "0000302591" "04214" "00410474" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 17" "" "" "0000302592" "04214" "00410474" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 18" "" "" "0000302595" "04214" "00410491" "00000" "Familial, autosomal recessive" "41y" "best corrected visual acuity right, left eye: finger counting 30 cm, light perception; refraction right, left eye: - 3.00DS/ - 0.5 DC x 105deg, - 2.5DS/ - 0.75 DC x 115deg; fundus:grayish retinal degeneration, macular dystrophy and choroid capillary atrophy; fundus autofluorescence: hypofluorescent lesion at the macular region, a semi-ring of high-density fundus autofluorescence at the nasal side of the lesion in the right eye; optical coherence tomography: outer retinal atrophy, disrupted ellipsoid band and diffuse atrophy of Sattler layer; electroretinogram: a-wave: 10.1 uV and 14.9 uV in scotopic 3.0, 3.7 uV and 0.93 uV in the photopic 3.0; b-wave: 4.48 uV and 1.59 uV in scotopic 0.01, 3.04 uV and 0.96 uV in the scotopic 3.0, 4.11 uV and 13.0 uV in the photopic 3.0" "22y" "" "nyctalopia and progressive decline of visual acuity" "" "" "" "" "" "maculopathy with rod-cone dystrophy" "" "" "0000302596" "04214" "00410492" "00000" "Familial, autosomal recessive" "32y" "best corrected visual acuity right, left eye: finger counting 30 cm, finger counting 30cm; refraction right, left eye: - 3.25DS/ - 0.5 DC x 20deg, - 2.0DS/ - 1.25 DC x 165deg; fundus:grayish retinal degeneration, maculopathy and choroid capillary atrophy, retinal creases; fundus autofluorescence: hypofluorescent lesion at the macular region; optical coherence tomography: outer retinal atrophy, disrupted ellipsoid band and diffuse atrophy of Sattler layer, focal posterial sclecal staphyloma below the macula; electroretinogram: a-wave: 16.8 uV and 34.1 uV in scotopic 3.0, 8.29 uV and 6.31 uV in the photopic 3.0; b-wave: 5.05 uV and 1.42 uV in scotopic 0.01, 12.7 uV and 28.1 uV in the scotopic 3.0, 2.46 uV and 5.22 uV in the photopic 3.0." "15y" "" "nyctalopia and progressive decline of visual acuity" "" "" "" "" "" "maculopathy with rod-cone dystrophy" "" "" "0000302597" "04214" "00410493" "00000" "Familial, autosomal recessive" "27y" "early teens: photoaversion; night vision had always been at least mildly reduced, driving without difficulty at night until his late teens then worsening nyctalopia and slight loss of peripheral vision; 22y: reduced color, central, and night vision had all progressed significantly within the previous year; occasional brief photopsia since childhood; no nystagmus; medical diagnoses of borderline hypertension, bipolar disorder, anxiety, and hyperhidrosis, past history of a heart murmur that had resolved by the age of 12; maternal grandfather was believed to have been color deficient, but no other family history of retinal or visual problems was noted; father in family A spectral domain optical coherence tomography of macula: normal in the right eye, a few small drusenoid deposits in the left eye." "" "3y" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302598" "04214" "00410494" "00000" "Familial, autosomal recessive" "35y" "failed a school vision screening in first grade, visual acuity never fully correctable with spectacles; no nystagmus; referred by an outside eye doctor who found macular abnormalities" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302599" "04214" "00410495" "00000" "Familial, autosomal recessive" "29y" "less severe symptoms than the brother21y: color vision complaints( begun in his mid-late teens), mild photoaversion; mild micronystagmus was noted on examination; medical history unremarkable aside from asthma" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302600" "04214" "00410496" "00000" "Familial, autosomal recessive" "33y" "4y: failed a school acuity screening. photoaversion (poor vision in bright light) in mid-late teens, as well as poor color vision; no nyctalopia and peripheral vision complaints; photoaversion complaints increased throughout the patient��s 20s; no nystagmus; 25y: slow dark adaptation; diagnosed with bipolar disorder in her mid-20s and treated with Lamictal and Prozac; however, by age 30 she was off me" "4y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302601" "04214" "00410497" "00000" "Familial, autosomal dominant" "55y" "decade of life: 70s; presenting symptoms (duration of symptoms, years): central visual loss, scotoma (25y); visual acuity, logMAR: 1.0, 0.0; severity of phenotype: mild to moderate macular dystrophy; other ophthalmic features: none" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302602" "04214" "00410498" "00000" "Familial, autosomal dominant" "40y" "decade of life: 50s; presenting symptoms (duration of symptoms, years): photophobia, central visual loss (14y); visual acuity, logMAR: 0.2, 0.6; severity of phenotype: mild macular dystrophy; other ophthalmic features: none" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302603" "04214" "00410499" "00000" "Familial, autosomal dominant" "42y" "decade of life: 50s; presenting symptoms (duration of symptoms, years): photophobia, central visual loss (10y); visual acuity, logMAR: 0.4 both eyes; severity of phenotype: mild macular dystrophy; other ophthalmic features: none" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302604" "04214" "00410500" "00000" "Familial, autosomal dominant" "41y" "decade of life: 50s; presenting symptoms (duration of symptoms, years): central visual loss (12y); visual acuity, logMAR: 1.0 both eyes; severity of phenotype: moderate dystrophy; other ophthalmic features: none" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302605" "04214" "00410501" "00000" "Familial, autosomal dominant" "29y" "decade of life: 30s; presenting symptoms (duration of symptoms, years): central visual loss, scotoma (2y); visual acuity, logMAR: 0.1, 0.0; severity of phenotype: mild macular dystrophy; other ophthalmic features: none" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302606" "04214" "00410502" "00000" "Familial, autosomal dominant" "25y" "decade of life: 30s; presenting symptoms (duration of symptoms, years): central visual loss, scotoma (5y); visual acuity, logMAR: 1.00, 0.8; severity of phenotype: mild macular dystrophy; other ophthalmic features: none" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302607" "04214" "00410503" "00000" "Familial, autosomal recessive" "20y" "decade of life: 60s; presenting symptoms (duration of symptoms, years): photophobia, central visual loss (44y); visual acuity, logMAR: hand movement, light perception; severity of phenotype: severe panretinal dystrophy; other ophthalmic features: cataract in right eye; intraocular lens implant in left eye" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302608" "04214" "00410504" "00000" "Familial, autosomal recessive" "<18y" "decade of life: 20s; presenting symptoms (duration of symptoms, years): central visual loss, nyctalopia (more than20y); visual acuity, logMAR: light perception both eyes; severity of phenotype: severe panretinal dystrophy; other ophthalmic features: myopia; posterior subcapsular lens opacity in both eyes" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302609" "04214" "00410505" "00000" "Familial, autosomal recessive" "<18y" "decade of life: teenage; presenting symptoms (duration of symptoms, years): central visual loss (more than5y); visual acuity, logMAR: 0.2, 0.3; severity of phenotype: mild panretinal dystrophy; other ophthalmic features: strabismus in left eye" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302610" "04214" "00410506" "00000" "Familial, autosomal recessive" "<18y" "decade of life: 30s; presenting symptoms (duration of symptoms, years): central visual loss (more than25y); visual acuity, logMAR: counting fingers both eyes; severity of phenotype: severe panretinal dystrophy; other ophthalmic features: none" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302611" "04214" "00410507" "00000" "Familial, autosomal recessive" "40y" "decade of life: 60s; presenting symptoms (duration of symptoms, years): central visual loss (20y); visual acuity, logMAR: counting fingers, 0.2; severity of phenotype: moderate macular dystrophy; other ophthalmic features: none" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302612" "04214" "00410508" "00000" "Familial, autosomal recessive" "12y" "decade of life: 50s; presenting symptoms (duration of symptoms, years): photophobia, central visual loss (40y); visual acuity, logMAR: hand movement both eyes; severity of phenotype: severe panretinal dystrophy; other ophthalmic features: oscillopsia; cataract in right eye; intraocular lens implant in left eye" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302613" "04214" "00410509" "00000" "Familial, autosomal recessive" "14y" "decade of life: 50s; presenting symptoms (duration of symptoms, years): central visual loss (40y); visual acuity, logMAR: light perception both eyes; severity of phenotype: severe panretinal dystrophy; other ophthalmic features: nystagmus; intraocular lens implant and retinal implant in right eye; cataract in left eye" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302614" "04214" "00410510" "00000" "Familial, autosomal recessive" "8y" "decade of life: 50s; presenting symptoms (duration of symptoms, years): photophobia, central visual loss (44y); visual acuity, logMAR: light perception both eyes; severity of phenotype: severe panretinal dystrophy; other ophthalmic features: posterior subcapsular lens opacity in both eyes" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302615" "04214" "00410511" "00000" "Familial, autosomal recessive" "6y" "decade of life: 40s; presenting symptoms (duration of symptoms, years): central visual loss (41y); visual acuity, logMAR: 1.6, 1.4; severity of phenotype: severe panretinal dystrophy; other ophthalmic features: myopia; nystagmus; posterior subcapsular lens opacity in both eyes" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302616" "04214" "00410512" "00000" "Familial, autosomal recessive" "<18y" "decade of life: 20s; presenting symptoms (duration of symptoms, years): central visual loss, scotoma (more than20y); visual acuity, logMAR: 1.3, 1.3; severity of phenotype: severe panretinal dystrophy; other ophthalmic features: myopia; nystagmus" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302617" "04214" "00410513" "00000" "Familial, autosomal recessive" "16y" "decade of life: 30s; presenting symptoms (duration of symptoms, years): photophobia, daylight vision problems (22y); visual acuity, logMAR: hand movement both eyes; severity of phenotype: severe panretinal dystrophy; other ophthalmic features: cataract in right eye; intraocular lens implant in left eye" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302618" "04214" "00410514" "00000" "Familial, autosomal recessive" "28y" "decade of life: 50s; presenting symptoms (duration of symptoms, years): central visual loss, slow dark adaptation (30y); visual acuity, logMAR: light perception both eyes; severity of phenotype: severe panretinal dystrophy; other ophthalmic features: none" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302619" "04214" "00410515" "00000" "Familial, autosomal recessive" "18y" "decade of life: 20s; presenting symptoms (duration of symptoms, years): central visual loss (7y); visual acuity, logMAR: 1.7, 1.6; severity of phenotype: severe panretinal dystrophy; other ophthalmic features: myopia; nystagmus; posterior subcapsular lens opacity in both eyes" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302620" "04214" "00410516" "00000" "Familial, autosomal recessive" "12y" "3y: wearing glasses; continually decreased visual acuity; no family history of eye diseases; best-corrected visual acuity right, left eye: 20/80, 20/70; pendular horizontal nystagmus; anterior segments and lense: normal; intraocular tension right, left eye: 15 / 14 mmHg; fundus: optic nerves normal, extensive mottled appearance outside the maculae and a bull\'s eye pattern of continuous atrophy in the maculae; full-field electroretinography- scotopic rod-specific responses, maximum electroretinogram, photopic 30-Hz flicker electroretinogram, and transient photopic electroretinogram: extinguish" "2y" "" "slight photodysphoria and nystagmus" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000302621" "04214" "00410518" "00000" "Familial, autosomal dominant" "73y" "chief complaint: reduced visual acuity; best corrected visual acuity right, left eye: 1.4, 1" "45y" "" "" "" "" "" "" "" "cone-(rod) dystrophy" "" "" "0000302622" "04214" "00410519" "00000" "Familial, autosomal dominant" "41y" "chief complaint: reduced visual acuity; best corrected visual acuity right, left eye: 0.7, 0.15" "31y" "" "" "" "" "" "" "" "cone-(rod) dystrophy" "" "" "0000302623" "04214" "00410520" "00000" "Familial, autosomal dominant" "44y" "chief complaint: reduced visual acuity; best corrected visual acuity right, left eye: 0.7, 0.1" "31y" "" "" "" "" "" "" "" "cone-(rod) dystrophy" "" "" "0000302624" "04214" "00410521" "00000" "Familial, autosomal dominant" "68y" "chief complaint: reduced visual acuity; best corrected visual acuity right, left eye: 1.05, 1.3" "40y" "" "" "" "" "" "" "" "cone-(rod) dystrophy" "" "" "0000302625" "04214" "00410522" "00000" "Familial, autosomal dominant" "40y" "chief complaint: photophobia; best corrected visual acuity right, left eye: 1.3, 1.22" "10y" "" "" "" "" "" "" "" "cone-(rod) dystrophy" "" "" "0000302626" "04214" "00410523" "00000" "Familial, autosomal dominant" "38y" "chief complaint: reduced visual acuity; best corrected visual acuity right, left eye: 0.7, 1" "30y" "" "" "" "" "" "" "" "cone-(rod) dystrophy" "" "" "0000302627" "04214" "00410524" "00000" "Familial, autosomal dominant" "45y" "chief complaint: reduced visual acuity; best corrected visual acuity right, left eye: 0.05, 0.1" "34y" "" "" "" "" "" "" "" "cone-(rod) dystrophy" "" "" "0000302628" "04214" "00410525" "00000" "Familial, autosomal dominant" "22y" "chief complaint: reduced visual acuity; best corrected visual acuity right, left eye: 1, 0.7" "10y" "" "" "" "" "" "" "" "cone-(rod) dystrophy" "" "" "0000302629" "04214" "00410526" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "cone-(rod) dystrophy" "" "" "0000302630" "04214" "00410527" "00000" "Familial, autosomal dominant" "64y" "chief complaint: central visual field loss; best corrected visual acuity right, left eye: 0.3, 1" "40y" "" "" "" "" "" "" "" "cone-(rod) dystrophy" "" "" "0000302631" "04214" "00410528" "00000" "Familial, autosomal dominant" "57y" "chief complaint: reduced visual acuity; best corrected visual acuity right, left eye: 0.7, 0.82" "10y" "" "" "" "" "" "" "" "cone-(rod) dystrophy" "" "" "0000302632" "04214" "00410529" "00000" "Familial, autosomal dominant" "75y" "best corrected visual acuity right/left eye: 0.03 / no light perception; refraction: not available; fundus both eyes: not available; electroretinogram: not available" "23y" "" "poor vision, color blindness" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302633" "04214" "00410530" "00000" "Familial, autosomal dominant" "49y" "best corrected visual acuity right/left eye: 0.30 / 0.10; refraction: not available; fundus both eyes: macular dystrophy; electroretinogram: not available" "23y" "" "poor vision, color blindness" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302634" "04214" "00410531" "00000" "Familial, autosomal dominant" "45y" "best corrected visual acuity right/left eye: 0.10 / 0.05; refraction: +0.5/+0.75; fundus both eyes: macular dystrophy, peripheral pigment deposits; electroretinogram rods: undetectable, cones: undetectable" "4y" "" "poor vision, color blindness" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302635" "04214" "00410532" "00000" "Familial, autosomal dominant" "19y" "best corrected visual acuity right/left eye: 0.60 / 0.30; refraction: not available; fundus both eyes: macular dystrophy; electroretinogram: not available" "<5y" "" "poor vision, color blindness" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302636" "04214" "00410533" "00000" "Familial, autosomal dominant" "53y" "best corrected visual acuity right/left eye: not available / not available; refraction: not available; fundus both eyes: macular dystrophy, peripheral pigment deposits; electroretinogram: not available" "50y" "" "poor vision, night blindness" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302637" "04214" "00410534" "00000" "Familial, autosomal dominant" "47y" "best corrected visual acuity right/left eye: 0.40 / 0.30; refraction: not available; fundus both eyes: macular dystrophy, peripheral pigment deposits; electroretinogram: not available" "30y" "" "poor vision, night blindness" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302638" "04214" "00410535" "00000" "Familial, autosomal dominant" "30y" "best corrected visual acuity right/left eye: not available / not available; refraction: -4.75/-3.75; fundus both eyes: macular dystrophy, peripheral pigment deposits; electroretinogram: not available" "" "" "poor vision, night blindness" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302639" "04214" "00410536" "00000" "Familial, autosomal dominant" "24y" "best corrected visual acuity right/left eye: 0.20 / 0.20; refraction: 1; fundus both eyes: macular dystrophy, peripheral pigment deposits; electroretinogram rods: undetectable, cones: undetectable" "<5y" "" "poor vision, night blindness" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302640" "04214" "00410537" "00000" "Familial, autosomal dominant" "39y" "best corrected visual acuity right/left eye: 0.12 / 0.12; refraction: -2.25/-3.25; fundus both eyes: macular dystrophy, peripheral pigment deposits; electroretinogram rods: moderately reduced, cones: severely reduced" "<5y" "" "poor vision, night blindness" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000302641" "04214" "00410538" "00000" "Familial, autosomal dominant" "43y" "best corrected visual acuity right/left eye: 0.15 / 0.15; refraction: not available; fundus both eyes: macular dystrophy; electroretinogram: not available" "16y" "" "poor vision" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000310993" "04214" "00419713" "04405" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease1" "" "0000310994" "04214" "00419714" "04405" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000310995" "04214" "00419715" "04405" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000311642" "04214" "00420394" "00000" "Familial, autosomal recessive" "29y11m" "" "20y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000311660" "04214" "00420412" "00000" "Familial, autosomal dominant" "64y5m" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "" "0000311701" "04214" "00420453" "00000" "Familial, autosomal dominant" "40y10m" "" "33y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000311774" "04214" "00420526" "00000" "Familial, autosomal dominant" "61y5m" "" "40y" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "" "0000311786" "04214" "00420538" "00000" "Familial, autosomal recessive" "24y2m" "" "15y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000317050" "04214" "00425880" "00000" "Familial, autosomal dominant" "" "" "" "" "" "expressed at a lower quantity than wild type" "" "" "" "" "retinitis pigmentosa" "" "" "0000317058" "04214" "00425888" "00000" "Familial, autosomal dominant" "" "" "" "" "" "expressed at a lower quantity than wild type" "" "" "" "" "retinitis pigmentosa" "" "" "0000320477" "00112" "00429605" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320481" "00112" "00429609" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320537" "04214" "00429665" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320554" "00112" "00429682" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320558" "00112" "00429686" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320623" "00112" "00429751" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320649" "00112" "00429777" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320710" "00112" "00429838" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320750" "04210" "00429878" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320770" "04214" "00429898" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320791" "00112" "00429919" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320801" "04210" "00429929" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320804" "00112" "00429932" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320883" "00112" "00430011" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320972" "00112" "00430100" "04436" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321523" "04214" "00430914" "04091" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "RP41" "retinitis pigmentosa" "" "0000326642" "02467" "00436465" "04552" "Familial, autosomal recessive" "10y" "Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551, Central scotoma HP: 0000603, Abnormality of macular pigmentation HP: 0008002" "05y" "22y" "" "" "" "" "" "" "STGD4" "Stargardt" "" "0000326650" "02467" "00436472" "04552" "Familial, autosomal recessive" "38y" "Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551, Central scotoma HP: 0000603, Abnormality of macular pigmentation HP: 0008002" "23y" "38y" "23y" "" "" "" "" "" "STGD4" "Stargardt" "" "0000326652" "02467" "00436474" "04552" "Familial, autosomal recessive" "28y" "Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551, Central scotoma HP: 0000603, Abnormality of macular pigmentation HP: 0008002" "08y" "28y" "8y" "" "" "" "" "" "STGD4" "Stargardt" "" "0000326739" "02952" "00436589" "04552" "Familial, autosomal recessive" "03y" "Photophobia HP:0000613, Reduced visual acuity HP:0007663, Large central visual field defect HP:0001129, Color vision defect HP: 0000551" "03y" "30y" "3y" "" "" "" "" "" "# 608051" "Retinal dystrophy" "" "0000336157" "00198" "00446958" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal dominant" "" "0000336216" "00198" "00447017" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336302" "00198" "00447103" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000336323" "00198" "00447124" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000336532" "00198" "00447333" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000336781" "00198" "00447582" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336816" "00198" "00447617" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336840" "00198" "00447641" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000336841" "00198" "00447642" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" "" "0000336865" "00198" "00447666" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000336867" "00198" "00447668" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000336904" "00198" "00447705" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336922" "00198" "00447723" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "unclear diagnosis" "" "0000339044" "04214" "00449984" "02230" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "STGD" "retinal disease" "" "0000339045" "04214" "00449985" "02230" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "STGD" "retinal disease" "" "0000339966" "04249" "00450911" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339967" "04249" "00450912" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339968" "04249" "00450913" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339969" "04249" "00450914" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339970" "04249" "00450915" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339971" "04249" "00450916" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339972" "04249" "00450917" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339973" "04249" "00450918" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339974" "04249" "00450919" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339975" "04249" "00450920" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal pigment epithelium dystrophy-BEM" "" "0000339976" "04249" "00450921" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339977" "04249" "00450922" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000339978" "04249" "00450923" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000339979" "04249" "00450924" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000339980" "04249" "00450925" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000339981" "04249" "00450926" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000339982" "04249" "00450927" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339983" "04249" "00450928" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000339984" "04249" "00450929" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339985" "04249" "00450930" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000339986" "04249" "00450931" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000339987" "04249" "00450932" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000340221" "00198" "00451546" "04543" "Familial, autosomal recessive" "30y" "no night vision; perception of light; nystagmus; no corneal haze; no photophobia" "10y" "" "" "" "" "" "" "" "RP41" "retinitis pigmentosa" "" "0000340222" "00198" "00451547" "04543" "Familial, autosomal recessive" "26y" "no night vision; day vision 20/40; normal color vision; nystagmus; corneal haze; no photophobia" "10y" "" "" "" "" "" "" "" "RP41" "retinitis pigmentosa" "" "0000340223" "00198" "00451548" "04543" "Familial, autosomal recessive" "28y" "no night vision; day vision 20/60; normal color vision; nystagmus; no corneal haze; no photophobia" "14y" "" "" "" "" "" "" "" "RP41" "retinitis pigmentosa" "" ## Screenings ## Do not remove or alter this header ## ## Count = 521 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000001607" "00001804" "1" "00102" "00102" "2013-08-08 19:57:45" "" "" "SEQ-NG-I" "DNA" "" "" "0000001610" "00001807" "1" "00102" "00102" "2013-08-08 21:34:21" "" "" "SEQ-NG-I" "DNA" "" "" "0000016560" "00016607" "1" "00552" "00552" "2014-05-23 13:28:27" "" "" "SEQ-NG-I" "DNA" "" "" "0000032892" "00032824" "1" "00223" "00223" "2009-10-13 15:12:09" "00006" "2012-05-18 13:59:33" "SEQ" "DNA" "" "" "0000032893" "00032825" "1" "00223" "00223" "2009-10-13 15:12:09" "00006" "2012-05-18 13:59:33" "SEQ" "DNA" "" "" "0000032894" "00032826" "1" "00223" "00223" "2009-10-13 15:12:09" "00006" "2012-05-18 13:59:33" "SEQ" "DNA" "" "" "0000032895" "00032827" "1" "00223" "00223" "2009-10-13 15:12:09" "00006" "2012-05-18 13:59:33" "SEQ" "DNA" "" "" "0000032896" "00032828" "1" "00223" "00223" "2009-10-13 15:12:09" "00006" "2012-05-18 13:59:33" "SEQ" "DNA" "" "" "0000032897" "00032829" "1" "00223" "00223" "2009-10-13 15:12:09" "00006" "2012-05-18 13:59:33" "SEQ" "DNA" "" "" "0000032898" "00032830" "1" "00223" "00223" "2009-10-13 15:12:09" "00006" "2012-05-18 13:59:33" "SEQ" "DNA" "" "" "0000032899" "00032831" "1" "00223" "00223" "2009-10-13 15:12:09" "00006" "2012-05-18 13:59:33" "SEQ" "DNA" "" "" "0000033173" "00033105" "1" "00229" "00229" "2012-02-04 14:49:23" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033209" "00033141" "1" "00229" "00229" "2012-02-04 15:42:15" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033215" "00033147" "1" "00229" "00229" "2012-02-04 15:42:15" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033419" "00033351" "1" "00039" "00039" "2012-09-18 14:06:41" "" "" "SEQ" "DNA" "" "" "0000033747" "00033679" "1" "01244" "01244" "2014-11-25 17:44:46" "" "" "SEQ" "DNA" "" "" "0000096349" "00095946" "1" "01769" "01769" "2017-01-26 19:18:28" "" "" "SEQ" "DNA" "WBC" "" "0000156390" "00155525" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156391" "00155526" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000174762" "00173872" "1" "02449" "02449" "2018-04-11 18:11:48" "" "" "SEQ" "DNA" "" "" "0000210059" "00209002" "1" "00006" "00006" "2018-12-22 15:10:51" "" "" "SEQ-NG" "DNA" "" "WGS" "0000233625" "00232526" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233626" "00232527" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233627" "00232528" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233628" "00232529" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233629" "00232530" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233630" "00232531" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233631" "00232532" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233632" "00232533" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233633" "00232534" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233634" "00232535" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233635" "00232536" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233636" "00232537" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233637" "00232538" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233638" "00232539" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233639" "00232540" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233640" "00232541" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233641" "00232542" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233642" "00232543" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233643" "00232544" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233644" "00232545" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233645" "00232546" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233646" "00232547" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233647" "00232548" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233648" "00232549" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233649" "00232550" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233650" "00232551" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233651" "00232552" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233652" "00232553" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233653" "00232554" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233654" "00232555" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233655" "00232556" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233656" "00232557" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234766" "00233667" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234767" "00233668" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234768" "00233669" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000294740" "00293572" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294741" "00293573" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294742" "00293574" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000300750" "00299640" "1" "00006" "00006" "2020-04-18 08:53:03" "00006" "2020-04-18 08:55:30" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000306116" "00304987" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309533" "00308389" "1" "00004" "00006" "2020-08-26 16:56:47" "" "" "SEQ;SEQ-NG" "DNA" "" "123 gene panel" "0000309534" "00308390" "1" "00004" "00006" "2020-08-26 16:56:47" "" "" "SEQ;SEQ-NG" "DNA" "" "123 gene panel" "0000309535" "00308391" "1" "00004" "00006" "2020-08-26 16:56:47" "" "" "SEQ;SEQ-NG" "DNA" "" "123 gene panel" "0000309536" "00308392" "1" "00004" "00006" "2020-08-26 16:56:47" "" "" "SEQ;SEQ-NG" "DNA" "" "123 gene panel" "0000309537" "00308393" "1" "00004" "00006" "2020-08-26 16:56:47" "" "" "SEQ;SEQ-NG" "DNA" "" "123 gene panel" "0000309545" "00308401" "1" "00004" "00006" "2020-08-26 16:56:47" "" "" "SEQ;SEQ-NG" "DNA" "" "123 gene panel" "0000309805" "00308660" "1" "00004" "00006" "2020-08-27 14:47:58" "" "" "SEQ;SEQ-NG" "DNA" "" "204 gene panel" "0000310449" "00309304" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310450" "00309305" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310451" "00309306" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310816" "00309671" "1" "00006" "00006" "2020-08-31 18:12:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000325718" "00324526" "1" "03960" "03960" "2020-12-18 10:26:14" "00006" "2021-01-05 14:19:27" "SEQ;SEQ-NG" "DNA" "Blood" "WES" "0000326728" "00325517" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000326738" "00325527" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000328015" "00326802" "1" "03849" "03849" "2021-01-14 17:12:03" "" "" "SEQ" "DNA" "Blood" "" "0000329130" "00327915" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WES" "0000329170" "00327955" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WES" "0000329423" "00328208" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329491" "00328276" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329518" "00328303" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329523" "00328308" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329558" "00328343" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000332514" "00331295" "1" "00000" "00006" "2021-02-11 11:33:52" "" "" "SEQ" "DNA" "" "" "0000333187" "00331968" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000333188" "00331969" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000333189" "00331970" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000333190" "00331971" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000333191" "00331972" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000333266" "00332047" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" "" "0000333430" "00332210" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES" "0000333449" "00332229" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES" "0000333450" "00332230" "1" "00000" "00006" "2021-02-15 18:54:26" "" "" "SEQ-NG" "DNA" "" "WES" "0000333487" "00332267" "1" "00000" "00006" "2021-02-16 17:14:33" "" "" "SEQ-NG" "DNA" "" "300-gene panel" "0000333502" "00332282" "1" "00000" "00006" "2021-02-16 17:14:33" "" "" "SEQ-NG" "DNA" "" "300-gene panel" "0000334559" "00333334" "1" "00000" "00006" "2021-02-24 17:21:42" "" "" "SEQ" "DNA" "peripheral blood lymphocytes" "" "0000334560" "00333335" "1" "00000" "00006" "2021-02-24 17:21:42" "" "" "SEQ" "DNA" "peripheral blood lymphocytes" "" "0000334561" "00333336" "1" "00000" "00006" "2021-02-24 17:21:42" "" "" "SEQ" "DNA" "peripheral blood lymphocytes" "" "0000334843" "00333617" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334931" "00333705" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334957" "00333731" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334958" "00333732" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000335155" "00333929" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335156" "00333930" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335651" "00334422" "1" "00000" "00006" "2021-02-28 16:11:14" "" "" "SEQ-NG" "DNA" "" "WES" "0000335652" "00334423" "1" "00000" "00006" "2021-02-28 16:11:14" "" "" "SEQ-NG" "DNA" "" "WES" "0000335697" "00334468" "1" "00000" "00006" "2021-02-28 17:46:08" "" "" "SEQ-NG" "DNA" "" "WES" "0000335794" "00334565" "1" "00000" "00006" "2021-03-01 15:50:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000336126" "00334897" "1" "00000" "00006" "2021-03-02 11:57:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000336127" "00334898" "1" "00000" "00006" "2021-03-02 11:57:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000336371" "00335142" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000336372" "00335143" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000336373" "00335144" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000336466" "00335237" "1" "00000" "00006" "2021-03-04 14:06:09" "" "" "SEQ-NG" "DNA" "" "212-gene panel" "0000336509" "00335280" "1" "02485" "00006" "2021-03-04 16:18:39" "" "" "SEQ-NG" "DNA" "" "68-gene panel" "0000336541" "00335312" "1" "02485" "00006" "2021-03-04 16:18:39" "" "" "SEQ-NG" "DNA" "" "68-gene panel" "0000336542" "00335313" "1" "02485" "00006" "2021-03-04 16:18:39" "" "" "SEQ-NG" "DNA" "" "68-gene panel" "0000336633" "00335404" "1" "00000" "00006" "2021-03-05 16:19:42" "" "" "SEQ-NG" "DNA" "" "283-gene panel" "0000336815" "00335587" "1" "00000" "00006" "2021-03-07 17:58:39" "" "" "arraySNP;SEQ" "DNA" "" "" "0000336816" "00335588" "1" "00000" "00006" "2021-03-07 17:58:39" "" "" "arraySNP;SEQ" "DNA" "" "" "0000336817" "00335589" "1" "00000" "00006" "2021-03-07 17:58:39" "" "" "arraySNP;SEQ" "DNA" "" "" "0000360194" "00358957" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360217" "00358980" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360275" "00359037" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360282" "00359044" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360283" "00359045" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360313" "00359075" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360345" "00359107" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360380" "00359142" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360418" "00359180" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360432" "00359194" "1" "00000" "00006" "2021-03-18 16:44:20" "" "" "SEQ" "DNA" "" "105-gene panel" "0000360576" "00359335" "1" "00000" "00006" "2021-03-19 13:20:32" "" "" "SEQ-NG" "DNA" "" "105-gene panel" "0000363390" "00362161" "1" "00000" "00006" "2021-04-15 15:27:01" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364126" "00362898" "1" "00000" "00006" "2021-04-23 19:25:57" "" "" "SEQ-NG" "DNA" "" "gene panel, WES" "0000364127" "00362899" "1" "00000" "00006" "2021-04-23 19:25:57" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364156" "00362928" "1" "00000" "00006" "2021-04-23 19:25:57" "" "" "SEQ-NG" "DNA" "" "gene panel, WES, WGS" "0000364161" "00362933" "1" "00000" "00006" "2021-04-23 19:25:57" "" "" "SEQ-NG" "DNA" "" "gene panel, WES" "0000364692" "00363464" "1" "00000" "00006" "2021-04-27 10:42:53" "" "" "SEQ-NG" "DNA" "" "195-gene panel" "0000364817" "00363589" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364913" "00363685" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364982" "00363754" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000369367" "00368139" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG" "DNA" "" "WES" "0000370184" "00368956" "1" "01695" "01695" "2021-05-03 14:25:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000373856" "00372624" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373870" "00372638" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373900" "00372668" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373906" "00372674" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373908" "00372676" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373911" "00372679" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373917" "00372685" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373926" "00372694" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373928" "00372696" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373939" "00372707" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373942" "00372710" "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" "0000373963" "00372731" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000373970" "00372738" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000374729" "00373494" "1" "00000" "00006" "2021-05-14 19:24:06" "" "" "SEQ-NG" "DNA" "" "316-gene panel" "0000374730" "00373495" "1" "00000" "00006" "2021-05-14 19:24:06" "" "" "SEQ-NG" "DNA" "" "316-gene panel" "0000374731" "00373496" "1" "00000" "00006" "2021-05-14 19:24:06" "" "" "SEQ-NG" "DNA" "" "316-gene panel" "0000374763" "00373528" "1" "00000" "00006" "2021-05-15 17:36:34" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000374764" "00373529" "1" "00000" "00006" "2021-05-15 17:36:34" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000375087" "00373855" "1" "00000" "00006" "2021-05-21 13:56:05" "" "" "SEQ-NG" "DNA" "" "86-gene panel" "0000375117" "00373885" "1" "00000" "00006" "2021-05-21 15:01:30" "" "" "SEQ-NG" "DNA" "" "238-gene panel" "0000375120" "00373888" "1" "00000" "00006" "2021-05-21 15:01:30" "" "" "SEQ-NG" "DNA" "" "238-gene panel" "0000375158" "00373926" "1" "00000" "00006" "2021-05-21 15:01:30" "" "" "SEQ-NG" "DNA" "" "238-gene panel" "0000376112" "00374918" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376130" "00374936" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376158" "00374964" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376159" "00374965" "1" "00000" "00006" "2021-05-27 14:15:58" "" "" "SEQ-NG" "DNA" "" "284 gene panel" "0000376607" "00375410" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376623" "00375426" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000376635" "00375438" "1" "00000" "00006" "2021-06-04 11:16:10" "" "" "SEQ-NG" "DNA" "" "162-gene panel" "0000377537" "00376341" "1" "00006" "00006" "2021-06-21 13:43:56" "00006" "2021-06-21 13:47:46" "SEQ;SEQ-NG" "DNA" "" "144-gene panel" "0000377998" "00376792" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel" "0000378026" "00376821" "1" "00000" "00006" "2021-06-25 15:49:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000378385" "00377180" "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" "0000378468" "00377263" "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" "0000378471" "00377266" "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" "0000378472" "00377267" "1" "00000" "03840" "2021-07-16 14:18:12" "" "" "SEQ" "DNA" "buccal cells" "targeted resequencing using MIPs library prep; 108-gene panel" "0000378477" "00377272" "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" "0000378595" "00377392" "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" "0000378922" "00377718" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ; SEQ-NG-S" "DNA" "Lymphoblast" "" "0000379003" "00377799" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ" "DNA" "" "" "0000379007" "00377803" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ" "DNA" "" "" "0000379008" "00377804" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ" "DNA" "" "" "0000379160" "00377956" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ; SEQ-NG-S" "DNA" "blood" "" "0000379228" "00378027" "1" "03508" "03508" "2021-08-03 08:55:45" "" "" "SEQ-NG-I" "DNA" "" "" "0000380759" "00379560" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "SEQ-NG" "DNA" "blood" "" "0000380764" "00379565" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "SEQ-NG" "DNA" "blood" "" "0000380973" "00379773" "1" "03508" "03508" "2021-08-09 08:23:24" "" "" "SEQ-NG-I" "DNA" "" "" "0000380976" "00379773" "1" "03508" "03508" "2021-08-09 09:12:31" "" "" "SEQ-NG-I" "DNA" "" "" "0000381061" "00379859" "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" "0000381306" "00380105" "1" "00000" "03840" "2021-08-10 09:32:07" "" "" "SEQ-NG" "DNA" "" "Whole-exome sequencing" "0000381307" "00380106" "1" "00000" "03840" "2021-08-10 09:32:07" "" "" "SEQ-NG" "DNA" "" "Whole-exome sequencing" "0000381321" "00380120" "1" "00000" "03840" "2021-08-10 09:32:07" "" "" "SEQ-NG" "DNA" "" "Whole-exome sequencing" "0000382130" "00380916" "1" "00000" "03840" "2021-08-23 13:21:22" "" "" "arraySNP" "DNA" "blood" "" "0000382217" "00381003" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ-NG;SEQp" "DNA" "blood" "targeted exon capture/IROme assay" "0000382232" "00381018" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "arraySEQ;SEQ;PCR" "DNA" "blood" "" "0000382843" "00381627" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382878" "00381662" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "SEQ-NG-I;SEQ-NG-R;SEQ" "DNA" "blood" "" "0000382928" "00381712" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR;SEQ-NG" "DNA" "blood or a saliva sample" "" "0000382931" "00381715" "1" "00000" "00008" "2021-09-03 05:21:17" "" "" "PCR;SEQ-NG" "DNA" "blood or a saliva sample" "" "0000383108" "00381892" "1" "00000" "03840" "2021-09-06 14:05:57" "" "" "SEQ-NG" "DNA" "blood" "" "0000383171" "00381955" "1" "00000" "03840" "2021-09-06 14:12:14" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted resequencing using MIPs library prep; 108-gene panel" "0000383358" "00382142" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" "" "0000383499" "00382285" "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" "0000383560" "00382346" "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" "0000383562" "00382348" "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" "0000383563" "00382349" "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" "0000383564" "00382350" "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" "0000383655" "00382441" "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" "0000383666" "00382452" "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" "0000383792" "00382578" "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" "0000384020" "00382804" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "arraySEQ;PCR" "DNA" "blood" "" "0000384061" "00382845" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "SEQ" "DNA" "" "" "0000384731" "00383506" "1" "00000" "03840" "2021-09-29 12:00:07" "" "" "SEQ-NG-I" "DNA" "blood" "204 genes associated with inherited retinal disorders; see paper" "0000384889" "00383664" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384890" "00383665" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384891" "00383666" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384892" "00383667" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384893" "00383668" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384894" "00383669" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384895" "00383670" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384896" "00383671" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384897" "00383672" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384898" "00383673" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384899" "00383674" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384900" "00383675" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384901" "00383676" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384902" "00383677" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384903" "00383678" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384904" "00383679" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384905" "00383680" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384906" "00383681" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384907" "00383682" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384908" "00383683" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384909" "00383684" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384910" "00383685" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384911" "00383686" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384912" "00383687" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384913" "00383688" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384914" "00383689" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384915" "00383690" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384916" "00383691" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384917" "00383692" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384918" "00383693" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384919" "00383694" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384920" "00383695" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384921" "00383696" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384922" "00383697" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000384923" "00383698" "1" "00000" "03840" "2021-09-29 12:21:38" "" "" "SEQ-NG" "DNA" "blood" "this cohort was screened with arraySNP (ASPER Ophthalmics), targeted gene panels, clinical/whole exome sequencing" "0000385003" "00383778" "1" "00000" "03840" "2021-09-29 12:39:39" "" "" "SEQ-NG" "DNA" "" "" "0000385004" "00383779" "1" "00000" "03840" "2021-09-29 12:39:39" "" "" "SEQ-NG" "DNA" "" "" "0000385081" "00383856" "1" "00000" "03840" "2021-09-29 12:48:42" "" "" "SEQ-NG-I" "DNA" "" "" "0000385086" "00383861" "1" "00000" "03840" "2021-09-29 12:48:42" "" "" "SEQ-NG-I" "DNA" "" "" "0000385087" "00383862" "1" "00000" "03840" "2021-09-29 12:48:42" "" "" "SEQ-NG-I" "DNA" "" "" "0000385088" "00383863" "1" "00000" "03840" "2021-09-29 12:48:42" "" "" "SEQ-NG-I" "DNA" "" "" "0000385091" "00383866" "1" "00000" "03840" "2021-09-29 12:48:42" "" "" "SEQ-NG-I" "DNA" "" "" "0000385154" "00383929" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000385173" "00383948" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000385263" "00384038" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000385271" "00384046" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "arraySNP" "DNA" "" "" "0000385397" "00384172" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "arraySNP" "DNA" "" "" "0000385427" "00384202" "1" "00000" "03840" "2021-09-29 13:14:43" "" "" "SEQ-NG-I" "DNA" "blood" "108-gene panel targeted resequencing using MIPs library prep" "0000385648" "00384423" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385665" "00384440" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385971" "00384745" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySEQ;MLPA" "DNA" "" "" "0000385995" "00384769" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySEQ;MLPA" "DNA" "" "" "0000385996" "00384770" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySEQ;MLPA" "DNA" "" "" "0000385997" "00384771" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySEQ;MLPA" "DNA" "" "" "0000385998" "00384772" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySEQ;MLPA" "DNA" "" "" "0000385999" "00384773" "1" "00000" "00008" "2021-10-05 15:28:49" "" "" "arraySEQ;MLPA" "DNA" "" "" "0000386258" "00385029" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386402" "00385173" "1" "00000" "03840" "2021-10-08 17:29:22" "" "" "SEQ-NG-I" "DNA" "" "176 genes panel" "0000386839" "00385610" "1" "00000" "00008" "2021-10-13 10:28:12" "" "" "arraySNP" "DNA" "" "RD-xip" "0000387429" "00386200" "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" "" "0000387517" "00386288" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387518" "00386289" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387519" "00386290" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387885" "00386657" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388098" "00386870" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388121" "00386893" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;PCRq" "DNA" "blood" "" "0000388299" "00387073" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388739" "00387513" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "PE" "DNA" "" "" "0000389791" "00388549" "1" "00000" "03840" "2021-11-04 19:02:37" "" "" "SEQ-NG-I;SEQ" "DNA" "blood;saliva" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes" "0000390535" "00389292" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET5 targeted sequencing panel - see paper" "0000390599" "00389356" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000390681" "00389438" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000390778" "00389535" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000390804" "00389561" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000390819" "00389576" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000390820" "00389577" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000390837" "00389594" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET3 targeted sequencing panel - see paper" "0000390841" "00389598" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000390985" "00389742" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper" "0000391007" "00389764" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000391011" "00389768" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET4 targeted sequencing panel - see paper" "0000391015" "00389772" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper" "0000391016" "00389773" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000391017" "00389774" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000391021" "00389778" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000391022" "00389779" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000391034" "00389791" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000391035" "00389792" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000391036" "00389793" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000391037" "00389794" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000391073" "00389830" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000391074" "00389831" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000391075" "00389832" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000391084" "00389841" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET5 targeted sequencing panel - see paper" "0000391205" "00389962" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper" "0000391263" "00390022" "1" "03840" "03840" "2021-11-08 11:11:01" "" "" "SEQ-NG" "DNA" "blood" "panel-based next-generation sequencing" "0000391585" "00390344" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391586" "00390345" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391587" "00390346" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391588" "00390347" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391589" "00390348" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391590" "00390349" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000392118" "00390877" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392166" "00390925" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392183" "00390942" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392224" "00390983" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392422" "00391180" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392423" "00391181" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392424" "00391182" "1" "00000" "03840" "2021-11-13 11:00:19" "" "" "SEQ-NG-I" "DNA" "blood" "whole exome sequencing" "0000392607" "00391365" "1" "00000" "03840" "2021-11-15 18:02:17" "" "" "SEQ-NG" "DNA" "" "retrospective case note review, targeted gene panel testing" "0000392806" "00391564" "1" "00000" "03840" "2021-11-17 14:55:16" "" "" "?" "DNA" "blood" "NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families" "0000392807" "00391565" "1" "00000" "03840" "2021-11-17 14:55:16" "" "" "?" "DNA" "blood" "NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families" "0000394561" "00393313" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000394590" "00393342" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000394591" "00393343" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing" "0000394989" "00393741" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395030" "00393782" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395129" "00393881" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG;MLPA" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000397004" "00395765" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397015" "00395776" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397144" "00395905" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397145" "00395906" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397179" "00395940" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397665" "00396424" "1" "00006" "00006" "2021-12-15 14:29:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000397704" "00396464" "1" "00006" "00006" "2021-12-15 16:38:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000407618" "00406376" "1" "00000" "03840" "2022-03-29 14:34:46" "" "" "SEQ" "DNA" "blood" "" "0000408603" "00407355" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000409656" "00408399" "1" "03468" "03468" "2022-04-21 05:54:33" "" "" "SEQ-NG" "DNA" "" "" "0000409657" "00408400" "1" "03468" "03468" "2022-04-21 06:01:32" "" "" "SEQ-NG" "DNA" "" "" "0000411618" "00410354" "1" "00000" "03840" "2022-05-24 20:44:06" "" "" "arraySNP;SEQ" "DNA" "blood" "SNP chip containing 40 RP/LCA known genes (genotyping of 240 SNPs)" "0000411619" "00410355" "1" "00000" "03840" "2022-05-24 20:44:06" "" "" "arraySNP;SEQ" "DNA" "blood" "SNP chip containing 40 RP/LCA known genes (genotyping of 240 SNPs)" "0000411620" "00410356" "1" "00000" "03840" "2022-05-24 20:44:06" "" "" "arraySNP;SEQ" "DNA" "blood" "SNP chip containing 40 RP/LCA known genes (genotyping of 240 SNPs)" "0000411641" "00410377" "1" "00000" "03840" "2022-05-25 12:22:20" "" "" "SEQ" "DNA" "blood" "" "0000411642" "00410378" "1" "00000" "03840" "2022-05-25 12:22:20" "" "" "SEQ" "DNA" "blood" "" "0000411643" "00410379" "1" "00000" "03840" "2022-05-25 12:22:20" "" "" "SEQ" "DNA" "blood" "" "0000411644" "00410380" "1" "00000" "03840" "2022-05-25 12:22:20" "" "" "SEQ" "DNA" "blood" "" "0000411645" "00410381" "1" "00000" "03840" "2022-05-25 12:22:20" "" "" "SEQ" "DNA" "blood" "" "0000411646" "00410382" "1" "00000" "03840" "2022-05-25 12:22:20" "" "" "SEQ" "DNA" "blood" "" "0000411647" "00410383" "1" "00000" "03840" "2022-05-25 12:22:20" "" "" "SEQ" "DNA" "blood" "" "0000411648" "00410384" "1" "00000" "03840" "2022-05-25 12:22:20" "" "" "SEQ" "DNA" "blood" "" "0000411649" "00410385" "1" "00000" "03840" "2022-05-25 12:22:20" "" "" "SEQ" "DNA" "blood" "" "0000411650" "00410386" "1" "00000" "03840" "2022-05-25 12:22:20" "" "" "SEQ" "DNA" "blood" "" "0000411657" "00410393" "1" "00000" "03840" "2022-05-25 13:24:38" "" "" "SEQ" "DNA" "blood" "" "0000411658" "00410394" "1" "00000" "03840" "2022-05-25 13:24:38" "" "" "SEQ" "DNA" "blood" "" "0000411659" "00410395" "1" "00000" "03840" "2022-05-25 13:24:38" "" "" "SEQ" "DNA" "blood" "" "0000411660" "00410396" "1" "00000" "03840" "2022-05-25 13:24:38" "" "" "SEQ" "DNA" "blood" "" "0000411661" "00410397" "1" "00000" "03840" "2022-05-25 13:24:38" "" "" "SEQ" "DNA" "blood" "" "0000411662" "00410398" "1" "00000" "03840" "2022-05-25 13:24:38" "" "" "SEQ" "DNA" "blood" "" "0000411663" "00410399" "1" "00000" "03840" "2022-05-25 14:11:56" "" "" "SEQ" "DNA" "blood" "" "0000411665" "00410401" "1" "00000" "03840" "2022-05-25 14:43:53" "" "" "arraySNP;SEQ" "DNA" "blood" "homozygosity mapping" "0000411666" "00410402" "1" "00000" "03840" "2022-05-25 14:43:53" "" "" "arraySNP;SEQ" "DNA" "blood" "homozygosity mapping" "0000411667" "00410403" "1" "00000" "03840" "2022-05-25 15:22:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing" "0000411668" "00410404" "1" "00000" "03840" "2022-05-25 15:22:52" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing" "0000411669" "00410405" "1" "00000" "03840" "2022-05-25 17:11:23" "" "" "arraySNP;SEQ" "DNA" "blood" "homozygosity mapping" "0000411670" "00410406" "1" "00000" "03840" "2022-05-25 17:11:23" "" "" "arraySNP;SEQ" "DNA" "blood" "homozygosity mapping" "0000411671" "00410407" "1" "00000" "03840" "2022-05-25 17:11:23" "" "" "arraySNP;SEQ" "DNA" "blood" "homozygosity mapping" "0000411672" "00410408" "1" "00000" "03840" "2022-05-25 18:46:54" "" "" "?" "DNA" "" "" "0000411673" "00410409" "1" "00000" "03840" "2022-05-25 23:09:43" "" "" "?" "DNA" "" "retrospective study" "0000411674" "00410410" "1" "00000" "03840" "2022-05-25 23:09:43" "" "" "?" "DNA" "" "retrospective study" "0000411675" "00410411" "1" "00000" "03840" "2022-05-25 23:09:43" "" "" "?" "DNA" "" "retrospective study" "0000411676" "00410412" "1" "00000" "03840" "2022-05-25 23:32:20" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "panel sequencing" "0000411734" "00410469" "1" "00000" "03840" "2022-05-27 10:00:59" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted exome sequencing" "0000411735" "00410470" "1" "00000" "03840" "2022-05-27 10:00:59" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted exome sequencing" "0000411736" "00410471" "1" "00000" "03840" "2022-05-27 10:00:59" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted exome sequencing" "0000411737" "00410472" "1" "00000" "03840" "2022-05-27 10:00:59" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted exome sequencing" "0000411738" "00410473" "1" "00000" "03840" "2022-05-27 10:00:59" "" "" "SEQ-NG;SEQ" "DNA" "blood" "targeted exome sequencing" "0000411739" "00410474" "1" "00000" "03840" "2022-05-27 13:25:09" "" "" "?" "DNA" "" "retrospective study" "0000411740" "00410475" "1" "00000" "03840" "2022-05-27 13:25:09" "" "" "?" "DNA" "" "retrospective study" "0000411741" "00410476" "1" "00000" "03840" "2022-05-27 13:25:09" "" "" "?" "DNA" "" "retrospective study" "0000411742" "00410477" "1" "00000" "03840" "2022-05-27 13:25:09" "" "" "?" "DNA" "" "retrospective study" "0000411743" "00410478" "1" "00000" "03840" "2022-05-27 13:25:09" "" "" "?" "DNA" "" "retrospective study" "0000411744" "00410479" "1" "00000" "03840" "2022-05-27 13:25:09" "" "" "?" "DNA" "" "retrospective study" "0000411745" "00410480" "1" "00000" "03840" "2022-05-27 13:25:09" "" "" "?" "DNA" "" "retrospective study" "0000411746" "00410481" "1" "00000" "03840" "2022-05-27 13:25:09" "" "" "?" "DNA" "" "retrospective study" "0000411747" "00410482" "1" "00000" "03840" "2022-05-27 13:25:09" "" "" "?" "DNA" "" "retrospective study" "0000411748" "00410483" "1" "00000" "03840" "2022-05-27 13:25:09" "" "" "?" "DNA" "" "retrospective study" "0000411749" "00410484" "1" "00000" "03840" "2022-05-27 13:25:09" "" "" "?" "DNA" "" "retrospective study" "0000411750" "00410485" "1" "00000" "03840" "2022-05-27 13:25:09" "" "" "?" "DNA" "" "retrospective study" "0000411751" "00410486" "1" "00000" "03840" "2022-05-27 13:25:09" "" "" "?" "DNA" "" "retrospective study" "0000411752" "00410487" "1" "00000" "03840" "2022-05-27 13:25:09" "" "" "?" "DNA" "" "retrospective study" "0000411753" "00410488" "1" "00000" "03840" "2022-05-27 13:25:09" "" "" "?" "DNA" "" "retrospective study" "0000411756" "00410491" "1" "00000" "03840" "2022-05-27 14:18:04" "" "" "SEQ-NG;SEQ" "DNA" "" "whole exome sequencing" "0000411757" "00410492" "1" "00000" "03840" "2022-05-27 14:18:04" "" "" "SEQ-NG;SEQ" "DNA" "" "whole exome sequencing" "0000411758" "00410493" "1" "00000" "03840" "2022-05-27 15:42:07" "" "" "SEQ-NG;SEQ" "DNA" "" "whole exome sequencing" "0000411759" "00410494" "1" "00000" "03840" "2022-05-27 15:42:07" "" "" "SEQ-NG;SEQ" "DNA" "" "whole exome sequencing" "0000411760" "00410495" "1" "00000" "03840" "2022-05-27 15:42:07" "" "" "SEQ-NG;SEQ" "DNA" "" "whole exome sequencing" "0000411761" "00410496" "1" "00000" "03840" "2022-05-27 15:42:07" "" "" "SEQ-NG;SEQ" "DNA" "" "whole exome sequencing" "0000411762" "00410497" "1" "00000" "03840" "2022-05-27 19:56:51" "" "" "SEQ-NG;SEQ" "DNA" "" "customized HaloPlex enrichment system kit - 117 retinal genes" "0000411763" "00410498" "1" "00000" "03840" "2022-05-27 19:56:51" "" "" "SEQ-NG;SEQ" "DNA" "" "customized HaloPlex enrichment system kit - 117 retinal genes" "0000411764" "00410499" "1" "00000" "03840" "2022-05-27 19:56:51" "" "" "SEQ-NG;SEQ" "DNA" "" "customized HaloPlex enrichment system kit - 117 retinal genes" "0000411765" "00410500" "1" "00000" "03840" "2022-05-27 19:56:51" "" "" "SEQ-NG;SEQ" "DNA" "" "customized HaloPlex enrichment system kit - 117 retinal genes" "0000411766" "00410501" "1" "00000" "03840" "2022-05-27 19:56:51" "" "" "SEQ-NG;SEQ" "DNA" "" "customized HaloPlex enrichment system kit - 117 retinal genes" "0000411767" "00410502" "1" "00000" "03840" "2022-05-27 19:56:51" "" "" "SEQ-NG;SEQ" "DNA" "" "customized HaloPlex enrichment system kit - 117 retinal genes" "0000411768" "00410503" "1" "00000" "03840" "2022-05-27 19:56:51" "" "" "SEQ-NG;SEQ" "DNA" "" "customized HaloPlex enrichment system kit - 117 retinal genes" "0000411769" "00410504" "1" "00000" "03840" "2022-05-27 19:56:51" "" "" "SEQ-NG;SEQ" "DNA" "" "customized HaloPlex enrichment system kit - 117 retinal genes" "0000411770" "00410505" "1" "00000" "03840" "2022-05-27 19:56:51" "" "" "SEQ-NG;SEQ" "DNA" "" "customized HaloPlex enrichment system kit - 117 retinal genes" "0000411771" "00410506" "1" "00000" "03840" "2022-05-27 19:56:51" "" "" "SEQ-NG;SEQ" "DNA" "" "customized HaloPlex enrichment system kit - 117 retinal genes" "0000411772" "00410507" "1" "00000" "03840" "2022-05-27 19:56:51" "" "" "SEQ-NG;SEQ" "DNA" "" "customized HaloPlex enrichment system kit - 117 retinal genes" "0000411773" "00410508" "1" "00000" "03840" "2022-05-27 19:56:51" "" "" "SEQ-NG;SEQ" "DNA" "" "customized HaloPlex enrichment system kit - 117 retinal genes" "0000411774" "00410509" "1" "00000" "03840" "2022-05-27 19:56:51" "" "" "SEQ-NG;SEQ" "DNA" "" "customized HaloPlex enrichment system kit - 117 retinal genes" "0000411775" "00410510" "1" "00000" "03840" "2022-05-27 19:56:51" "" "" "SEQ-NG;SEQ" "DNA" "" "customized HaloPlex enrichment system kit - 117 retinal genes" "0000411776" "00410511" "1" "00000" "03840" "2022-05-27 19:56:51" "" "" "SEQ-NG;SEQ" "DNA" "" "customized HaloPlex enrichment system kit - 117 retinal genes" "0000411777" "00410512" "1" "00000" "03840" "2022-05-27 19:56:51" "" "" "SEQ-NG;SEQ" "DNA" "" "customized HaloPlex enrichment system kit - 117 retinal genes" "0000411778" "00410513" "1" "00000" "03840" "2022-05-27 19:56:51" "" "" "SEQ-NG;SEQ" "DNA" "" "customized HaloPlex enrichment system kit - 117 retinal genes" "0000411779" "00410514" "1" "00000" "03840" "2022-05-27 19:56:51" "" "" "SEQ-NG;SEQ" "DNA" "" "customized HaloPlex enrichment system kit - 117 retinal genes" "0000411780" "00410515" "1" "00000" "03840" "2022-05-27 19:56:51" "" "" "SEQ-NG;SEQ" "DNA" "" "customized HaloPlex enrichment system kit - 117 retinal genes" "0000411781" "00410516" "1" "00000" "03840" "2022-05-27 20:32:58" "" "" "SEQ-NG;SEQ" "DNA" "" "whole-exome sequencing" "0000411783" "00410518" "1" "00000" "03840" "2022-05-28 11:10:24" "" "" "SEQ-NG;SEQ" "DNA" "" "whole-exome sequencing" "0000411784" "00410519" "1" "00000" "03840" "2022-05-28 11:10:24" "" "" "SEQ-NG;SEQ" "DNA" "" "whole-exome sequencing" "0000411785" "00410520" "1" "00000" "03840" "2022-05-28 11:10:24" "" "" "SEQ-NG;SEQ" "DNA" "" "whole-exome sequencing" "0000411786" "00410521" "1" "00000" "03840" "2022-05-28 11:10:24" "" "" "SEQ-NG;SEQ" "DNA" "" "whole-exome sequencing" "0000411787" "00410522" "1" "00000" "03840" "2022-05-28 11:10:24" "" "" "SEQ-NG;SEQ" "DNA" "" "whole-exome sequencing" "0000411788" "00410523" "1" "00000" "03840" "2022-05-28 11:10:24" "" "" "SEQ-NG;SEQ" "DNA" "" "whole-exome sequencing" "0000411789" "00410524" "1" "00000" "03840" "2022-05-28 11:10:24" "" "" "SEQ-NG;SEQ" "DNA" "" "whole-exome sequencing" "0000411790" "00410525" "1" "00000" "03840" "2022-05-28 11:10:24" "" "" "SEQ-NG;SEQ" "DNA" "" "whole-exome sequencing" "0000411791" "00410526" "1" "00000" "03840" "2022-05-28 11:10:24" "" "" "SEQ-NG;SEQ" "DNA" "" "whole-exome sequencing" "0000411792" "00410527" "1" "00000" "03840" "2022-05-28 11:10:24" "" "" "SEQ-NG;SEQ" "DNA" "" "whole-exome sequencing" "0000411793" "00410528" "1" "00000" "03840" "2022-05-28 11:10:24" "" "" "SEQ-NG;SEQ" "DNA" "" "whole-exome sequencing" "0000411794" "00410529" "1" "00000" "03840" "2022-05-28 12:44:53" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000411795" "00410530" "1" "00000" "03840" "2022-05-28 12:44:53" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000411796" "00410531" "1" "00000" "03840" "2022-05-28 12:44:53" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000411797" "00410532" "1" "00000" "03840" "2022-05-28 12:44:53" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000411798" "00410533" "1" "00000" "03840" "2022-05-28 12:44:53" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000411799" "00410534" "1" "00000" "03840" "2022-05-28 12:44:53" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000411800" "00410535" "1" "00000" "03840" "2022-05-28 12:44:53" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000411801" "00410536" "1" "00000" "03840" "2022-05-28 12:44:53" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000411802" "00410537" "1" "00000" "03840" "2022-05-28 12:44:53" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000411803" "00410538" "1" "00000" "03840" "2022-05-28 12:44:53" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000421018" "00419713" "1" "04405" "00006" "2022-10-21 12:50:15" "" "" "MIPsm" "DNA" "" "smMIPs 105 iMD/AMD genes" "0000421019" "00419714" "1" "04405" "00006" "2022-10-21 12:50:15" "" "" "MIPsm" "DNA" "" "smMIPs 105 iMD/AMD genes" "0000421020" "00419715" "1" "04405" "00006" "2022-10-21 12:50:15" "" "" "MIPsm" "DNA" "" "smMIPs 105 iMD/AMD genes" "0000421703" "00420394" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000421721" "00420412" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000421762" "00420453" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000421835" "00420526" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000421847" "00420538" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000427200" "00425880" "1" "00000" "03840" "2022-11-26 12:24:53" "" "" "SEQ" "DNA" "blood" "" "0000427208" "00425888" "1" "00000" "03840" "2022-11-26 12:24:53" "" "" "SEQ-NG;SEQ" "DNA" "blood" "whole-exome sequencing" "0000431018" "00429605" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431022" "00429609" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431078" "00429665" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431095" "00429682" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431099" "00429686" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431164" "00429751" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431190" "00429777" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431251" "00429838" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431291" "00429878" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431311" "00429898" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431332" "00429919" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431342" "00429929" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431345" "00429932" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431424" "00430011" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431513" "00430100" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000432325" "00430914" "1" "04091" "00006" "2023-01-25 13:11:03" "" "" "SEQ-NG" "DNA" "" "WGS" "0000436605" "00435132" "1" "04473" "04473" "2023-05-21 22:52:38" "" "" "SEQ-NG-I" "DNA" "Peripheral Blood Sample" "" "0000437948" "00436465" "1" "04552" "04552" "2023-09-17 05:09:15" "" "" "SEQ-NG-I" "DNA" "buccal swab" "" "0000437956" "00436472" "1" "04552" "04552" "2023-09-17 06:08:03" "" "" "SEQ-NG-I" "DNA" "buccal swab" "" "0000437958" "00436474" "1" "04552" "04552" "2023-09-17 06:26:04" "" "" "SEQ-NG-I" "DNA" "buccal swab" "" "0000438074" "00436589" "1" "04552" "04552" "2023-09-21 22:36:14" "" "" "SEQ-NG-I" "DNA" "" "" "0000448535" "00446958" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448594" "00447017" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448680" "00447103" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448701" "00447124" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448910" "00447333" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449159" "00447582" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449194" "00447617" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449218" "00447641" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449219" "00447642" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449243" "00447666" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449245" "00447668" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449282" "00447705" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449300" "00447723" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000451580" "00449984" "1" "02230" "00006" "2024-05-24 14:55:58" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "WGS" "0000451581" "00449985" "1" "02230" "00006" "2024-05-24 14:55:58" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "WGS" "0000452509" "00450911" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452510" "00450912" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452511" "00450913" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452512" "00450914" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452513" "00450915" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452514" "00450916" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452515" "00450917" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452516" "00450918" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452517" "00450919" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452518" "00450920" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452519" "00450921" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452520" "00450922" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452521" "00450923" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452522" "00450924" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452523" "00450925" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452524" "00450926" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452525" "00450927" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452526" "00450928" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452527" "00450929" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452528" "00450930" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452529" "00450931" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452530" "00450932" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452658" "00451059" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452679" "00451080" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452806" "00451207" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452953" "00451354" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000453147" "00451546" "1" "04543" "00006" "2024-06-10 15:00:36" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIPs" "0000453148" "00451547" "1" "04543" "00006" "2024-06-10 15:00:36" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIPs" "0000453149" "00451548" "1" "04543" "00006" "2024-06-10 15:00:36" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIPs" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 426 "{{screeningid}}" "{{geneid}}" "0000032892" "PROM1" "0000032893" "PROM1" "0000032894" "PROM1" "0000032895" "PROM1" "0000032896" "PROM1" "0000032897" "PROM1" "0000032898" "PROM1" "0000032899" "PROM1" "0000033173" "CACNA1F" "0000033173" "PROM1" "0000033173" "RP2" "0000033173" "RPGRIP1L" "0000033173" "SNRNP200" "0000033209" "GUCY2D" "0000033209" "PROM1" "0000033209" "RPGR" "0000033209" "TOPORS" "0000033215" "PROM1" "0000033215" "PRPF31" "0000033419" "PROM1" "0000033747" "PROM1" "0000096349" "PROM1" "0000156390" "PROM1" "0000156391" "PROM1" "0000174762" "MERTK" "0000210059" "PROM1" "0000233625" "PROM1" "0000233626" "PROM1" "0000233627" "PROM1" "0000233628" "PROM1" "0000233629" "PROM1" "0000233630" "PROM1" "0000233631" "PROM1" "0000233632" "PROM1" "0000233633" "PROM1" "0000233634" "PROM1" "0000233635" "PROM1" "0000233636" "PROM1" "0000233637" "PROM1" "0000233638" "PROM1" "0000233639" "PROM1" "0000233640" "PROM1" "0000233641" "PROM1" "0000233642" "PROM1" "0000233643" "PROM1" "0000233644" "PROM1" "0000233645" "PROM1" "0000233646" "PROM1" "0000233647" "PROM1" "0000233648" "PROM1" "0000233649" "PROM1" "0000233650" "PROM1" "0000233651" "PROM1" "0000233652" "PROM1" "0000233653" "PROM1" "0000233654" "PROM1" "0000233655" "PROM1" "0000233656" "PROM1" "0000234766" "PROM1" "0000234767" "PROM1" "0000234768" "PROM1" "0000300750" "ARHGEF18" "0000309533" "PROM1" "0000309534" "PROM1" "0000309535" "PROM1" "0000309536" "PROM1" "0000309537" "PROM1" "0000309545" "PROM1" "0000309805" "PROM1" "0000310449" "PROM1" "0000310450" "PROM1" "0000310451" "PROM1" "0000310816" "PROM1" "0000325718" "POC1B" "0000326728" "PROM1" "0000326738" "PROM1" "0000328015" "POC1B" "0000329130" "PROM1" "0000329170" "PROM1" "0000329423" "PROM1" "0000329491" "PROM1" "0000329518" "PROM1" "0000329523" "PROM1" "0000329558" "PROM1" "0000332514" "PROM1" "0000333187" "PROM1" "0000333188" "PROM1" "0000333189" "PROM1" "0000333190" "PROM1" "0000333191" "PROM1" "0000333266" "PROM1" "0000333487" "CRB1" "0000333487" "PROM1" "0000333502" "PROM1" "0000334559" "PROM1" "0000334560" "PROM1" "0000334561" "PROM1" "0000334843" "PROM1" "0000334931" "PROM1" "0000334957" "PROM1" "0000334958" "PROM1" "0000335155" "PROM1" "0000335156" "PROM1" "0000335651" "PROM1" "0000335652" "PROM1" "0000335697" "PROM1" "0000335794" "PROM1" "0000336126" "PROM1" "0000336127" "PROM1" "0000336371" "PROM1" "0000336372" "PROM1" "0000336373" "PROM1" "0000336466" "PROM1" "0000336509" "PROM1" "0000336541" "PROM1" "0000336542" "PROM1" "0000336633" "PROM1" "0000336815" "PROM1" "0000336816" "PROM1" "0000336817" "PROM1" "0000360576" "PROM1" "0000363390" "PROM1" "0000364126" "PROM1" "0000364127" "PROM1" "0000364156" "PROM1" "0000364161" "PROM1" "0000364692" "PROM1" "0000364817" "PROM1" "0000364913" "PROM1" "0000364982" "PROM1" "0000369367" "ABCA4" "0000370184" "ABCA4" "0000374729" "PROM1" "0000374730" "PROM1" "0000374731" "PROM1" "0000374763" "PROM1" "0000374764" "PROM1" "0000375087" "PROM1" "0000375117" "PROM1" "0000375120" "PROM1" "0000375158" "PROM1" "0000376635" "PROM1" "0000378385" "CNGB3" "0000378468" "PROM1" "0000378471" "PROM1" "0000378472" "PROM1" "0000378477" "PROM1" "0000378595" "PROM1" "0000378922" "PROM1" "0000379003" "PROM1" "0000379007" "PROM1" "0000379008" "PROM1" "0000379160" "GUCY2D" "0000380759" "PROM1" "0000380764" "PROM1" "0000381061" "PROM1" "0000382130" "PROM1" "0000382217" "PROM1" "0000382232" "PROM1" "0000382843" "PROM1" "0000382878" "RPGRIP1" "0000382928" "PROM1" "0000382931" "PROM1" "0000383108" "PROM1" "0000383358" "PROM1" "0000383499" "EYS" "0000383560" "PROM1" "0000383562" "PROM1" "0000383563" "PROM1" "0000383564" "PROM1" "0000383655" "USH2A" "0000383666" "USH2A" "0000383792" "PROM1" "0000384020" "ABCA4" "0000384020" "PROM1" "0000384061" "PROM1" "0000384731" "PROM1" "0000384889" "PROM1" "0000384890" "PROM1" "0000384891" "PROM1" "0000384892" "PROM1" "0000384893" "PROM1" "0000384894" "PROM1" "0000384895" "PROM1" "0000384896" "PROM1" "0000384897" "PROM1" "0000384898" "PROM1" "0000384899" "PROM1" "0000384900" "PROM1" "0000384901" "PROM1" "0000384902" "PROM1" "0000384903" "PROM1" "0000384904" "PROM1" "0000384905" "PROM1" "0000384906" "PROM1" "0000384907" "PROM1" "0000384908" "PROM1" "0000384909" "PROM1" "0000384910" "PROM1" "0000384911" "PROM1" "0000384912" "PROM1" "0000384913" "PROM1" "0000384914" "PROM1" "0000384915" "PROM1" "0000384916" "PROM1" "0000384917" "PROM1" "0000384918" "PROM1" "0000384919" "PROM1" "0000384920" "PROM1" "0000384921" "PROM1" "0000384922" "PROM1" "0000384923" "PROM1" "0000385003" "PROM1" "0000385004" "PROM1" "0000385081" "PROM1" "0000385086" "PROM1" "0000385087" "PROM1" "0000385088" "PROM1" "0000385091" "PROM1" "0000385154" "PROM1" "0000385173" "PROM1" "0000385263" "PROM1" "0000385271" "PROM1" "0000385397" "PROM1" "0000385427" "PROM1" "0000385648" "PROM1" "0000385665" "PROM1" "0000385971" "PROM1" "0000385995" "PROM1" "0000385996" "PROM1" "0000385997" "PROM1" "0000385998" "PROM1" "0000385999" "PROM1" "0000386258" "PROM1" "0000386402" "PROM1" "0000386839" "PROM1" "0000387429" "GNAT2" "0000387484" "ABCA4" "0000387517" "PROM1" "0000387518" "PROM1" "0000387519" "PROM1" "0000387885" "PROM1" "0000388098" "PROM1" "0000388121" "PROM1" "0000388299" "PROM1" "0000388739" "PROM1" "0000389791" "PROM1" "0000390535" "PROM1" "0000390599" "PROM1" "0000390681" "PROM1" "0000390778" "PROM1" "0000390804" "PROM1" "0000390819" "PROM1" "0000390820" "PROM1" "0000390837" "PROM1" "0000390841" "PROM1" "0000390985" "PROM1" "0000391007" "PROM1" "0000391011" "PROM1" "0000391015" "PROM1" "0000391016" "PROM1" "0000391017" "PROM1" "0000391021" "PROM1" "0000391022" "PROM1" "0000391034" "PROM1" "0000391035" "PROM1" "0000391036" "PROM1" "0000391037" "PROM1" "0000391073" "PROM1" "0000391074" "PROM1" "0000391075" "PROM1" "0000391084" "PROM1" "0000391205" "PROM1" "0000391585" "PROM1" "0000391586" "PROM1" "0000391587" "PROM1" "0000391588" "PROM1" "0000391589" "PROM1" "0000391590" "PROM1" "0000392118" "PROM1" "0000392166" "PROM1" "0000392183" "PROM1" "0000392224" "PROM1" "0000392422" "PROM1" "0000392423" "PROM1" "0000392424" "PROM1" "0000392607" "PROM1" "0000392806" "PROM1" "0000392807" "PROM1" "0000394561" "PROM1" "0000394590" "PROM1" "0000394591" "PROM1" "0000394989" "PROM1" "0000395030" "PROM1" "0000395129" "PROM1" "0000397004" "PROM1" "0000397015" "PROM1" "0000397144" "PROM1" "0000397145" "PROM1" "0000397179" "PROM1" "0000407618" "PROM1" "0000408603" "NES" "0000409656" "PROM1" "0000409657" "PROM1" "0000411618" "PROM1" "0000411619" "PROM1" "0000411620" "PROM1" "0000411641" "PROM1" "0000411642" "PROM1" "0000411643" "PROM1" "0000411644" "PROM1" "0000411645" "PROM1" "0000411646" "PROM1" "0000411647" "PROM1" "0000411648" "PROM1" "0000411649" "PROM1" "0000411650" "PROM1" "0000411657" "PROM1" "0000411658" "PROM1" "0000411659" "PROM1" "0000411660" "PROM1" "0000411661" "PROM1" "0000411662" "PROM1" "0000411663" "PROM1" "0000411665" "PROM1" "0000411666" "PROM1" "0000411667" "PROM1" "0000411668" "PROM1" "0000411669" "PROM1" "0000411670" "PROM1" "0000411671" "PROM1" "0000411672" "PROM1" "0000411673" "PROM1" "0000411674" "PROM1" "0000411675" "PROM1" "0000411676" "PROM1" "0000411734" "PROM1" "0000411739" "PROM1" "0000411740" "PROM1" "0000411741" "PROM1" "0000411742" "PROM1" "0000411743" "PROM1" "0000411744" "PROM1" "0000411745" "PROM1" "0000411746" "PROM1" "0000411747" "PROM1" "0000411748" "PROM1" "0000411749" "PROM1" "0000411750" "PROM1" "0000411751" "PROM1" "0000411752" "PROM1" "0000411753" "PROM1" "0000411756" "PROM1" "0000411757" "PROM1" "0000411758" "PROM1" "0000411759" "PROM1" "0000411760" "PROM1" "0000411761" "PROM1" "0000411762" "PROM1" "0000411763" "PROM1" "0000411764" "PROM1" "0000411765" "PROM1" "0000411766" "PROM1" "0000411767" "PROM1" "0000411768" "PROM1" "0000411769" "PROM1" "0000411770" "PROM1" "0000411771" "PROM1" "0000411772" "PROM1" "0000411773" "PROM1" "0000411774" "PROM1" "0000411775" "PROM1" "0000411776" "PROM1" "0000411777" "PROM1" "0000411778" "PROM1" "0000411779" "PROM1" "0000411780" "PROM1" "0000411781" "PROM1" "0000411783" "PROM1" "0000411784" "PROM1" "0000411785" "PROM1" "0000411786" "PROM1" "0000411787" "PROM1" "0000411788" "PROM1" "0000411789" "PROM1" "0000411790" "PROM1" "0000411791" "PROM1" "0000411792" "PROM1" "0000411793" "PROM1" "0000411794" "PROM1" "0000411795" "PROM1" "0000411796" "PROM1" "0000411797" "PROM1" "0000411798" "PROM1" "0000411799" "PROM1" "0000411800" "PROM1" "0000411801" "PROM1" "0000411802" "PROM1" "0000411803" "PROM1" "0000421703" "PROM1" "0000421721" "PROM1" "0000421762" "PROM1" "0000421835" "PROM1" "0000421847" "PROM1" "0000427200" "PRPF31" "0000427208" "PRPF31" "0000431018" "PROM1" "0000431022" "PROM1" "0000431078" "PROM1" "0000431095" "PROM1" "0000431099" "PROM1" "0000431164" "PROM1" "0000431190" "PROM1" "0000431251" "PROM1" "0000431291" "PROM1" "0000431311" "PROM1" "0000431332" "PROM1" "0000431342" "PROM1" "0000431345" "PROM1" "0000431424" "PROM1" "0000431513" "PROM1" "0000436605" "PRPH2" "0000437948" "PROM1" "0000437956" "PROM1" "0000437958" "PROM1" "0000438074" "PROM1" ## 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 = 744 "{{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}}" "0000019509" "0" "90" "4" "15991420" "15991420" "subst" "0" "00102" "PROM1_000010" "g.15991420T>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.15989797T>A" "" "pathogenic" "" "0000019510" "0" "90" "4" "16026936" "16026936" "subst" "4.06616E-6" "00102" "PROM1_000007" "g.16026936C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.16025313C>T" "" "pathogenic" "" "0000019514" "0" "90" "4" "16025003" "16025003" "subst" "1.69052E-5" "00102" "PROM1_000008" "g.16025003G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.16023380G>A" "" "pathogenic" "" "0000019515" "0" "90" "4" "16008266" "16008266" "dup" "0" "00102" "PROM1_000004" "g.16008266dup" "" "" "" "1354_1355insT" "" "Unknown" "" "" "0" "" "" "g.16006643dup" "" "pathogenic" "" "0000036428" "0" "50" "4" "16014922" "16014922" "subst" "0" "00552" "PROM1_000003" "g.16014922G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.16013299G>A" "" "VUS" "" "0000060152" "3" "99" "4" "15993942" "15993942" "del" "0" "00223" "PROM1_000001" "g.15993942del" "" "{PMID:Maw 2000:10587575}" "" "" "deleterious variant" "Germline" "" "" "0" "" "" "g.15992319del" "" "pathogenic" "" "0000060153" "3" "99" "4" "15995651" "15995651" "subst" "4.06468E-6" "00223" "PROM1_000002" "g.15995651G>A" "" "{PMID:Zhang 2007:17605048}" "" "" "deleterious variant" "Germline" "" "" "0" "" "" "g.15994028G>A" "" "pathogenic" "" "0000060154" "0" "99" "4" "16014922" "16014922" "subst" "0" "00223" "PROM1_000003" "g.16014922G>A" "" "{PMID:Yang 2008:18654668}" "" "" "deleterious variant" "Germline" "" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "" "0000060155" "0" "99" "4" "16014922" "16014922" "subst" "0" "00223" "PROM1_000003" "g.16014922G>A" "" "{PMID:Yang 2008:18654668}" "" "" "deleterious variant" "Germline" "" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "" "0000060156" "0" "99" "4" "16014922" "16014922" "subst" "0" "00223" "PROM1_000003" "g.16014922G>A" "" "{PMID:Yang 2008:18654668}" "" "" "deleterious variant" "Germline" "" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "" "0000060157" "0" "99" "4" "16014922" "16014922" "subst" "0" "00223" "PROM1_000003" "g.16014922G>A" "" "Michaelides et al., Submitted" "" "" "deleterious variant" "Germline" "" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "" "0000060158" "0" "99" "4" "16014922" "16014922" "subst" "0" "00223" "PROM1_000003" "g.16014922G>A" "" "Michaelides et al., Submitted" "" "" "deleterious variant" "Germline" "" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "" "0000060159" "3" "99" "4" "16008266" "16008266" "dup" "0" "00223" "PROM1_000004" "g.16008266dup" "" "{PMID:Pras 2009:19718270}" "" "c.1349insT" "deleterious variant" "Germline" "" "" "0" "" "" "g.16006643dup" "" "pathogenic" "" "0000060160" "1" "70" "4" "16017832" "16017832" "subst" "0" "00229" "PROM1_000005" "g.16017832A>G" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted to affect function, but insufficient evidence for definite conclusion; not segregating with disease in other family" "Germline" "" "" "0" "" "" "g.16016209A>G" "" "likely pathogenic" "" "0000060161" "1" "70" "4" "16017832" "16017832" "subst" "0" "00229" "PROM1_000005" "g.16017832A>G" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted to affect function, but insufficient evidence for definite conclusion" "Germline" "no" "" "0" "" "" "g.16016209A>G" "" "likely pathogenic" "" "0000060162" "1" "70" "4" "16026921" "16026921" "subst" "0" "00229" "PROM1_000006" "g.16026921T>G" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted to affect function, but insufficient evidence for definite conclusion" "Germline" "no" "" "0" "" "" "g.16025298T>G" "" "likely pathogenic" "" "0000060163" "1" "90" "4" "16002167" "16002167" "subst" "0" "00039" "PROM1_000011" "g.16002167G>C" "" "{PMID:Abu-Safieh-2013:23105016}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.16000544G>C" "" "pathogenic" "" "0000060164" "2" "90" "4" "16002167" "16002167" "subst" "0" "00039" "PROM1_000011" "g.16002167G>C" "" "{PMID:Abu-Safieh-2013:23105016}" "" "" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.16000544G>C" "" "pathogenic" "" "0000060165" "3" "70" "4" "15992872" "15992872" "subst" "0" "01244" "PROM1_000012" "g.15992872C>A" "" "{PMID:De Castro-Miró 2014:24516651}" "" "c.1984-1G.T" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.15991249C>A" "" "likely pathogenic" "" "0000158342" "3" "90" "4" "15995651" "15995651" "subst" "4.06468E-6" "01769" "PROM1_000002" "g.15995651G>A" "" "{PMID:Li 2017:28418496}" "" "" "" "Germline" "yes" "" "0" "" "" "g.15994028G>A" "" "pathogenic" "" "0000249040" "0" "10" "4" "15977823" "15977823" "subst" "0" "02325" "PROM1_000013" "g.15977823A>C" "" "" "" "PROM1(NM_001145847.2):c.2555+3195T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15976200A>C" "" "benign" "" "0000249041" "0" "10" "4" "15981943" "15981943" "del" "0" "02325" "PROM1_000016" "g.15981943del" "" "" "" "PROM1(NM_001145847.2):c.2462+118delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15980320del" "" "benign" "" "0000249042" "0" "10" "4" "15982166" "15982166" "subst" "0.389239" "02325" "PROM1_000018" "g.15982166A>G" "" "" "" "PROM1(NM_001145847.2):c.2347-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15980543A>G" "" "benign" "" "0000256077" "0" "50" "4" "16010707" "16010707" "subst" "4.06696E-6" "01943" "PROM1_000029" "g.16010707A>G" "" "" "" "PROM1(NM_001145847.1):c.1139T>C (p.I380T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16009084A>G" "" "VUS" "" "0000256252" "0" "50" "4" "16010674" "16010674" "subst" "8.54402E-5" "01943" "PROM1_000027" "g.16010674A>G" "" "" "" "PROM1(NM_001145847.1):c.1172T>C (p.L391P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16009051A>G" "" "VUS" "" "0000294441" "0" "10" "4" "16017783" "16017783" "subst" "0.000334272" "02330" "PROM1_000031" "g.16017783G>C" "" "" "" "PROM1(NM_001145847.2):c.1050+6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16016160G>C" "" "benign" "" "0000294442" "0" "90" "4" "16014922" "16014922" "subst" "0" "02330" "PROM1_000003" "g.16014922G>A" "" "" "" "PROM1(NM_001145847.1):c.1090C>T (p.R364C), PROM1(NM_006017.3):c.1117C>T (p.R373C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "" "0000294443" "0" "10" "4" "16010748" "16010748" "subst" "4.13104E-6" "02330" "PROM1_000030" "g.16010748C>T" "" "" "" "PROM1(NM_001145847.2):c.1115-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16009125C>T" "" "benign" "" "0000294444" "0" "10" "4" "16002200" "16002200" "subst" "0.00296002" "02330" "PROM1_000025" "g.16002200G>A" "" "" "" "PROM1(NM_001145847.1):c.1470C>T (p.I490=), PROM1(NM_001145847.2):c.1470C>T (p.I490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16000577G>A" "" "benign" "" "0000294445" "0" "10" "4" "15993857" "15993857" "subst" "0.00160928" "02330" "PROM1_000024" "g.15993857C>T" "" "" "" "PROM1(NM_001145847.2):c.1884+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15992234C>T" "" "benign" "" "0000294446" "0" "90" "4" "15989860" "15989860" "subst" "0" "02330" "PROM1_000021" "g.15989860T>C" "" "" "" "PROM1(NM_006017.3):c.2077-521A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15988237T>C" "" "pathogenic" "" "0000294447" "0" "50" "4" "15985975" "15985975" "subst" "0.000668103" "02330" "PROM1_000020" "g.15985975T>C" "" "" "" "PROM1(NM_001145847.1):c.2257A>G (p.S753G), PROM1(NM_001145847.2):c.2257A>G (p.S753G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15984352T>C" "" "VUS" "" "0000294448" "0" "10" "4" "15982176" "15982176" "subst" "0.000719211" "02330" "PROM1_000019" "g.15982176C>T" "" "" "" "PROM1(NM_001145847.2):c.2347-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15980553C>T" "" "benign" "" "0000294450" "0" "70" "4" "15981529" "15981529" "subst" "0.000128422" "02330" "PROM1_000015" "g.15981529T>C" "" "" "" "PROM1(NM_001145847.2):c.2463-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15979906T>C" "" "likely pathogenic" "" "0000294451" "0" "30" "4" "16019985" "16019985" "subst" "0.000463467" "02330" "PROM1_000032" "g.16019985C>A" "" "" "" "PROM1(NM_001145847.2):c.936G>T (p.L312F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16018362C>A" "" "likely benign" "" "0000297378" "0" "10" "4" "15977828" "15977828" "subst" "0" "02325" "PROM1_000014" "g.15977828C>G" "" "" "" "PROM1(NM_001145847.2):c.2555+3190G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15976205C>G" "" "benign" "" "0000297379" "0" "10" "4" "16037352" "16037352" "subst" "0.4495" "02325" "PROM1_000034" "g.16037352C>T" "" "" "" "PROM1(NM_001145847.2):c.277-2220G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16035729C>T" "" "benign" "" "0000306448" "0" "90" "4" "16014922" "16014922" "subst" "0" "01943" "PROM1_000003" "g.16014922G>A" "" "" "" "PROM1(NM_001145847.1):c.1090C>T (p.R364C), PROM1(NM_006017.3):c.1117C>T (p.R373C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "" "0000306449" "0" "30" "4" "16010677" "16010677" "subst" "0.000288921" "01943" "PROM1_000028" "g.16010677C>T" "" "" "" "PROM1(NM_001145847.1):c.1169G>A (p.R390H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16009054C>T" "" "likely benign" "" "0000306450" "0" "90" "4" "16008313" "16008313" "subst" "0" "01943" "PROM1_000026" "g.16008313C>T" "" "" "" "PROM1(NM_001145847.1):c.1275G>A (p.W425*), PROM1(NM_006017.3):c.1302G>A (p.W434*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16006690C>T" "" "pathogenic" "" "0000306451" "0" "30" "4" "16002200" "16002200" "subst" "0.00296002" "01943" "PROM1_000025" "g.16002200G>A" "" "" "" "PROM1(NM_001145847.1):c.1470C>T (p.I490=), PROM1(NM_001145847.2):c.1470C>T (p.I490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16000577G>A" "" "likely benign" "" "0000306452" "0" "30" "4" "15992903" "15992903" "subst" "0.000148539" "01943" "PROM1_000023" "g.15992903G>A" "" "" "" "PROM1(NM_001145847.1):c.1898C>T (p.P633L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15991280G>A" "" "likely benign" "" "0000306453" "0" "30" "4" "15992851" "15992851" "subst" "0.00116157" "01943" "PROM1_000022" "g.15992851G>A" "" "" "" "PROM1(NM_001145847.1):c.1950C>T (p.N650=), PROM1(NM_006017.3):c.1977C>T (p.N659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15991228G>A" "" "likely benign" "" "0000306454" "0" "30" "4" "16077324" "16077324" "subst" "3.28186E-5" "01943" "PROM1_000035" "g.16077324C>T" "" "" "" "PROM1(NM_001145847.1):c.206G>A (p.R69H), PROM1(NM_006017.3):c.206G>A (p.(Arg69His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16075701C>T" "" "likely benign" "" "0000306455" "0" "30" "4" "16020052" "16020052" "subst" "1.62603E-5" "01943" "PROM1_000033" "g.16020052C>T" "" "" "" "PROM1(NM_001145847.1):c.869G>A (p.R290Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16018429C>T" "" "likely benign" "" "0000337300" "0" "10" "4" "15992831" "15992831" "subst" "0.0485704" "02327" "PROM1_000039" "g.15992831C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15991208C>T" "" "benign" "" "0000337308" "0" "10" "4" "16037352" "16037352" "subst" "0.4495" "02327" "PROM1_000034" "g.16037352C>T" "" "" "" "PROM1(NM_001145847.2):c.277-2220G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16035729C>T" "" "benign" "" "0000339503" "0" "10" "4" "16020162" "16020162" "subst" "0.142887" "02327" "PROM1_000045" "g.16020162C>T" "" "" "" "PROM1(NM_001145847.2):c.759G>A (p.A253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16018539C>T" "" "benign" "" "0000339504" "0" "10" "4" "16077401" "16077401" "subst" "0.0355585" "02327" "PROM1_000047" "g.16077401G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16075778G>A" "" "benign" "" "0000339505" "0" "10" "4" "16077515" "16077515" "subst" "0.0276458" "02327" "PROM1_000048" "g.16077515G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16075892G>A" "" "benign" "" "0000341415" "0" "50" "4" "16014900" "16014900" "subst" "4.06289E-6" "02327" "PROM1_000043" "g.16014900G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16013277G>A" "" "VUS" "" "0000342764" "0" "90" "4" "16014922" "16014922" "subst" "0" "02327" "PROM1_000003" "g.16014922G>A" "" "" "" "PROM1(NM_001145847.1):c.1090C>T (p.R364C), PROM1(NM_006017.3):c.1117C>T (p.R373C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "" "0000346110" "0" "90" "4" "16002235" "16002235" "subst" "0" "02327" "PROM1_000042" "g.16002235C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16000612C>A" "" "pathogenic" "" "0000347655" "0" "50" "4" "15982084" "15982084" "subst" "0" "02327" "PROM1_000036" "g.15982084T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15980461T>C" "" "VUS" "" "0000350106" "0" "90" "4" "16008266" "16008266" "dup" "0" "02327" "PROM1_000004" "g.16008266dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16006643dup" "" "pathogenic" "" "0000350125" "0" "90" "4" "16002140" "16002140" "subst" "3.26763E-5" "02327" "PROM1_000041" "g.16002140G>T" "" "" "" "PROM1(NM_006017.3):c.1557C>A (p.Y519*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16000517G>T" "" "pathogenic" "" "0000350953" "0" "10" "4" "15985984" "15985984" "subst" "0.241573" "02327" "PROM1_000038" "g.15985984G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.15984361G>C" "" "benign" "" "0000358312" "3" "90" "4" "16008260" "16008260" "dup" "0" "01243" "PROM1_000004" "g.16008260dup" "" "Sharon, submitted" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000358313" "3" "90" "4" "16010716" "16010716" "subst" "0" "01243" "PROM1_000049" "g.16010716A>T" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.16009093A>T" "" "pathogenic" "" "0000441229" "1" "90" "4" "15991426" "15991426" "del" "4.24758E-6" "00006" "PROM1_000009" "g.15991426del" "" "{PMID:Lionel 2018:28771251}" "" "1978delT" "" "Germline" "" "" "0" "" "" "g.15989803del" "" "pathogenic (recessive)" "" "0000441230" "2" "90" "4" "16008266" "16008266" "dup" "0" "00006" "PROM1_000004" "g.16008266dup" "" "{PMID:Lionel 2018:28771251}" "" "1327dupT" "" "Germline" "" "" "0" "" "" "g.16006643dup" "" "pathogenic (recessive)" "" "0000476333" "0" "50" "4" "15981049" "15981049" "subst" "3.25457E-5" "02591" "PROM1_000050" "g.15981049C>T" "9/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs201910962" "0" "" "" "g.15979426C>T" "" "VUS" "" "0000476334" "0" "50" "4" "15981053" "15981053" "subst" "0" "02591" "PROM1_000051" "g.15981053A>T" "4/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.15979430A>T" "" "VUS" "" "0000476335" "0" "50" "4" "15982049" "15982049" "subst" "7.1449E-5" "02591" "PROM1_000052" "g.15982049C>T" "77/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs146434364" "0" "" "" "g.15980426C>T" "" "VUS" "" "0000476336" "0" "50" "4" "15982055" "15982055" "subst" "0" "02591" "PROM1_000053" "g.15982055C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs866191488" "0" "" "" "g.15980432C>T" "" "VUS" "" "0000476337" "0" "10" "4" "15982163" "15982163" "subst" "0" "02591" "PROM1_000054" "g.15982163dup" "511/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs34269395" "0" "" "" "g.15980540dup" "" "benign" "" "0000476338" "0" "50" "4" "15985902" "15985902" "subst" "0" "02591" "PROM1_000055" "g.15985902T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.15984279T>C" "" "VUS" "" "0000476339" "0" "50" "4" "15985983" "15985983" "subst" "0" "02591" "PROM1_000056" "g.15985983G>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.15984360G>T" "" "VUS" "" "0000476340" "0" "50" "4" "15987378" "15987378" "subst" "0" "02591" "PROM1_000057" "g.15987378C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.15985755C>T" "" "VUS" "" "0000476341" "0" "50" "4" "15987602" "15987602" "subst" "0" "02591" "PROM1_000058" "g.15987602T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs756367402" "0" "" "" "g.15985979T>C" "" "VUS" "" "0000476342" "0" "50" "4" "15989321" "15989321" "subst" "8.22917E-6" "02591" "PROM1_000059" "g.15989321C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.15987698C>T" "" "VUS" "" "0000476343" "0" "50" "4" "15991369" "15991369" "subst" "4.22729E-5" "02591" "PROM1_000060" "g.15991369T>C" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs760554830" "0" "" "" "g.15989746T>C" "" "VUS" "" "0000476344" "0" "50" "4" "15992901" "15992901" "subst" "2.55382E-5" "02591" "PROM1_000061" "g.15992901C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs748475864" "0" "" "" "g.15991278C>T" "" "VUS" "" "0000476345" "0" "10" "4" "15994019" "15994019" "subst" "0.0357279" "02591" "PROM1_000062" "g.15994019G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs55708318" "0" "" "" "g.15992396G>A" "" "benign" "" "0000476346" "0" "50" "4" "15995632" "15995632" "subst" "0" "02591" "PROM1_000063" "g.15995632C>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.15994009C>A" "" "VUS" "" "0000476347" "0" "50" "4" "15995639" "15995639" "subst" "0.00011788" "02591" "PROM1_000064" "g.15995639T>G" "17/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs199674847" "0" "" "" "g.15994016T>G" "" "VUS" "" "0000476348" "0" "90" "4" "16002118" "16002118" "subst" "0" "02591" "PROM1_000065" "g.16002118C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.16000495C>T" "" "pathogenic" "" "0000476349" "0" "50" "4" "16002229" "16002229" "subst" "1.75121E-5" "02591" "PROM1_000066" "g.16002229T>A" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs536622788" "0" "" "" "g.16000606T>A" "" "VUS" "" "0000476350" "0" "50" "4" "16008177" "16008177" "subst" "1.85328E-5" "02591" "PROM1_000067" "g.16008177C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs768692244" "0" "" "" "g.16006554C>T" "" "VUS" "" "0000476351" "3" "50" "4" "16010614" "16010614" "subst" "4.09604E-6" "02591" "PROM1_000068" "g.16010614A>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs370997223" "0" "" "" "g.16008991A>G" "" "VUS" "" "0000476352" "0" "50" "4" "16010658" "16010658" "subst" "7.33156E-5" "02591" "PROM1_000069" "g.16010658T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs747220095" "0" "" "" "g.16009035T>C" "" "VUS" "" "0000476353" "0" "50" "4" "16010674" "16010674" "subst" "8.54402E-5" "02591" "PROM1_000027" "g.16010674A>G" "15/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs140682455" "0" "" "" "g.16009051A>G" "" "VUS" "" "0000476354" "0" "50" "4" "16010722" "16010722" "subst" "0" "02591" "PROM1_000070" "g.16010722C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.16009099C>T" "" "VUS" "" "0000476355" "0" "90" "4" "16014922" "16014922" "subst" "0" "02591" "PROM1_000003" "g.16014922G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs137853006" "0" "" "" "g.16013299G>A" "" "pathogenic" "" "0000476356" "0" "50" "4" "16019985" "16019985" "subst" "0.000463467" "02591" "PROM1_000032" "g.16019985C>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs202041422" "0" "" "" "g.16018362C>A" "" "VUS" "" "0000476357" "0" "50" "4" "16020055" "16020055" "subst" "1.62598E-5" "02591" "PROM1_000071" "g.16020055A>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs777725196" "0" "" "" "g.16018432A>T" "" "VUS" "" "0000476358" "0" "50" "4" "16020080" "16020080" "subst" "0.00267201" "02591" "PROM1_000072" "g.16020080T>G" "16/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs182096110" "0" "" "" "g.16018457T>G" "" "VUS" "" "0000476359" "0" "50" "4" "16025002" "16025002" "subst" "5.91056E-5" "02591" "PROM1_000073" "g.16025002C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs369815021" "0" "" "" "g.16023379C>T" "" "VUS" "" "0000476360" "0" "50" "4" "16025014" "16025014" "subst" "0" "02591" "PROM1_000074" "g.16025014C>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.16023391C>A" "" "VUS" "" "0000476361" "0" "50" "4" "16025015" "16025015" "subst" "0" "02591" "PROM1_000075" "g.16025015C>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.16023392C>A" "" "VUS" "" "0000476362" "0" "50" "4" "16025027" "16025027" "subst" "2.19614E-5" "02591" "PROM1_000076" "g.16025027C>T" "16/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs536161084" "0" "" "" "g.16023404C>T" "" "VUS" "" "0000476363" "0" "50" "4" "16025984" "16025984" "subst" "0" "02591" "PROM1_000077" "g.16025984del" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.16024361del" "" "VUS" "" "0000476364" "0" "50" "4" "16077372" "16077372" "subst" "4.4742E-5" "02591" "PROM1_000078" "g.16077372C>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs755064227" "0" "" "" "g.16075749C>T" "" "VUS" "" "0000477474" "3" "50" "4" "15982049" "15982049" "subst" "7.1449E-5" "02591" "PROM1_000052" "g.15982049C>T" "2/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs146434364" "0" "" "" "g.15980426C>T" "" "VUS" "" "0000477475" "3" "10" "4" "15982163" "15982163" "subst" "0" "02591" "PROM1_000054" "g.15982163dup" "102/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs34269395" "0" "" "" "g.15980540dup" "" "benign" "" "0000477476" "3" "50" "4" "15995639" "15995639" "subst" "0.00011788" "02591" "PROM1_000064" "g.15995639T>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs199674847" "0" "" "" "g.15994016T>G" "" "VUS" "" "0000521933" "0" "50" "4" "15972698" "15972698" "subst" "6.78221E-5" "02330" "PROM1_000079" "g.15972698G>A" "" "" "" "PROM1(NM_001145847.2):c.2563C>T (p.Q855*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15971075G>A" "" "VUS" "" "0000521934" "0" "90" "4" "15981529" "15981529" "subst" "0.000128422" "02327" "PROM1_000015" "g.15981529T>C" "" "" "" "PROM1(NM_001145847.2):c.2463-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15979906T>C" "" "pathogenic" "" "0000521935" "0" "10" "4" "15981894" "15981894" "dup" "0" "02325" "PROM1_000080" "g.15981894dup" "" "" "" "PROM1(NM_001145847.2):c.2462+159dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15980271dup" "" "benign" "" "0000521936" "0" "10" "4" "15982080" "15982080" "subst" "0.000279514" "02330" "PROM1_000081" "g.15982080G>A" "" "" "" "PROM1(NM_001145847.2):c.2427C>T (p.Y809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15980457G>A" "" "benign" "" "0000521937" "0" "10" "4" "15982174" "15982174" "dup" "0" "02330" "PROM1_000082" "g.15982174dup" "" "" "" "PROM1(NM_001145847.2):c.2347-6dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15980551dup" "" "benign" "" "0000521938" "0" "10" "4" "15985901" "15985901" "subst" "0.00038477" "02330" "PROM1_000083" "g.15985901G>A" "" "" "" "PROM1(NM_001145847.2):c.2331C>T (p.Y777=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15984278G>A" "" "benign" "" "0000521939" "0" "30" "4" "15985975" "15985975" "subst" "0.000668103" "01943" "PROM1_000020" "g.15985975T>C" "" "" "" "PROM1(NM_001145847.1):c.2257A>G (p.S753G), PROM1(NM_001145847.2):c.2257A>G (p.S753G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15984352T>C" "" "likely benign" "" "0000521940" "0" "50" "4" "15987673" "15987673" "subst" "0" "02330" "PROM1_000084" "g.15987673G>C" "" "" "" "PROM1(NM_001145847.2):c.2104-13C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15986050G>C" "" "VUS" "" "0000521941" "0" "50" "4" "15992846" "15992846" "subst" "1.66333E-5" "02330" "PROM1_000085" "g.15992846A>G" "" "" "" "PROM1(NM_001145847.2):c.1955T>C (p.L652S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15991223A>G" "" "VUS" "" "0000521942" "0" "10" "4" "15995626" "15995626" "subst" "0.00152449" "02330" "PROM1_000086" "g.15995626T>C" "" "" "" "PROM1(NM_001145847.2):c.1724A>G (p.H575R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15994003T>C" "" "benign" "" "0000521943" "0" "30" "4" "16000117" "16000117" "subst" "0.000402342" "01943" "PROM1_000087" "g.16000117A>G" "" "" "" "PROM1(NM_001145847.1):c.1552-6T>C, PROM1(NM_006017.3):c.1579-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15998494A>G" "" "likely benign" "" "0000521944" "0" "10" "4" "16000128" "16000128" "del" "0" "02330" "PROM1_000088" "g.16000128del" "" "" "" "PROM1(NM_001145847.2):c.1552-16delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15998505del" "" "benign" "" "0000521945" "0" "50" "4" "16002231" "16002233" "del" "0" "01943" "PROM1_000089" "g.16002231_16002233del" "" "" "" "PROM1(NM_001145847.1):c.1438_1440delTTA (p.L480del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16000608_16000610del" "" "VUS" "" "0000521946" "0" "50" "4" "16002234" "16002234" "subst" "0" "01943" "PROM1_000090" "g.16002234C>G" "" "" "" "PROM1(NM_001145847.1):c.1436G>C (p.G479A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16000611C>G" "" "VUS" "" "0000521947" "0" "50" "4" "16014904" "16014904" "subst" "4.06303E-6" "02330" "PROM1_000091" "g.16014904C>T" "" "" "" "PROM1(NM_001145847.2):c.1108G>A (p.V370I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16013281C>T" "" "VUS" "" "0000521949" "0" "10" "4" "16020080" "16020080" "subst" "0.00267201" "02330" "PROM1_000072" "g.16020080T>G" "" "" "" "PROM1(NM_001145847.1):c.841A>C (p.S281R), PROM1(NM_001145847.2):c.841A>C (p.S281R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16018457T>G" "" "benign" "" "0000521950" "0" "50" "4" "16020080" "16020080" "subst" "0.00267201" "01943" "PROM1_000072" "g.16020080T>G" "" "" "" "PROM1(NM_001145847.1):c.841A>C (p.S281R), PROM1(NM_001145847.2):c.841A>C (p.S281R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16018457T>G" "" "VUS" "" "0000521951" "0" "10" "4" "16020162" "16020162" "subst" "0.142887" "02325" "PROM1_000045" "g.16020162C>T" "" "" "" "PROM1(NM_001145847.2):c.759G>A (p.A253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16018539C>T" "" "benign" "" "0000521953" "0" "10" "4" "16026805" "16026805" "subst" "4.06736E-5" "02330" "PROM1_000092" "g.16026805T>C" "" "" "" "PROM1(NM_001145847.2):c.603+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16025182T>C" "" "benign" "" "0000521954" "0" "50" "4" "16026841" "16026841" "subst" "0.00024782" "02330" "PROM1_000093" "g.16026841G>C" "" "" "" "PROM1(NM_001145847.1):c.577C>G (p.R193G), PROM1(NM_001145847.2):c.577C>G (p.R193G), PROM1(NM_006017.3):c.604C>G (p.(Arg202Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16025218G>C" "" "VUS" "" "0000521958" "0" "30" "4" "16034947" "16034947" "subst" "4.06918E-6" "02330" "PROM1_000094" "g.16034947C>T" "" "" "" "PROM1(NM_001145847.2):c.462G>A (p.L154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16033324C>T" "" "likely benign" "" "0000521959" "0" "50" "4" "16035015" "16035015" "subst" "0" "02327" "PROM1_000095" "g.16035015C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16033392C>T" "" "VUS" "" "0000521960" "0" "50" "4" "16035060" "16035060" "subst" "0.000293174" "02330" "PROM1_000096" "g.16035060C>T" "" "" "" "PROM1(NM_001145847.2):c.349G>A (p.V117M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16033437C>T" "" "VUS" "" "0000521961" "0" "10" "4" "16040554" "16040554" "subst" "0" "02330" "PROM1_000097" "g.16040554C>T" "" "" "" "PROM1(NM_001145847.2):c.276+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16038931C>T" "" "benign" "" "0000609102" "0" "10" "4" "15982166" "15982166" "subst" "0.389239" "02327" "PROM1_000018" "g.15982166A>G" "" "" "" "PROM1(NM_001145847.2):c.2347-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15980543A>G" "" "benign" "" "0000609103" "0" "30" "4" "15987629" "15987629" "subst" "0" "02327" "PROM1_000099" "g.15987629T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15986006T>C" "" "likely benign" "" "0000609104" "0" "30" "4" "15989852" "15989852" "subst" "0" "02330" "PROM1_000100" "g.15989852G>C" "" "" "" "PROM1(NM_001145847.2):c.2050-513C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15988229G>C" "" "likely benign" "" "0000609105" "0" "30" "4" "15995666" "15995666" "subst" "1.21944E-5" "01943" "PROM1_000101" "g.15995666C>T" "" "" "" "PROM1(NM_001145847.1):c.1684G>A (p.G562S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15994043C>T" "" "likely benign" "" "0000609106" "0" "90" "4" "16008201" "16008201" "subst" "0" "02327" "PROM1_000102" "g.16008201G>A" "" "" "" "PROM1(NM_006017.3):c.1414C>T (p.R472*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16006578G>A" "" "pathogenic" "" "0000609107" "0" "50" "4" "16008209" "16008209" "subst" "0" "02327" "PROM1_000103" "g.16008209G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16006586G>A" "" "VUS" "" "0000609108" "0" "50" "4" "16010722" "16010722" "subst" "4.89329E-5" "02330" "PROM1_000104" "g.16010722C>G" "" "" "" "PROM1(NM_001145847.2):c.1124G>C (p.R375T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16009099C>G" "" "VUS" "" "0000609109" "0" "90" "4" "16010732" "16010732" "subst" "3.27394E-5" "02327" "PROM1_000105" "g.16010732C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16009109C>T" "" "pathogenic" "" "0000609110" "0" "50" "4" "16020034" "16020034" "subst" "9.34883E-5" "02330" "PROM1_000106" "g.16020034G>A" "" "" "" "PROM1(NM_001145847.2):c.887C>T (p.P296L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16018411G>A" "" "VUS" "" "0000609111" "0" "90" "4" "16026825" "16026825" "del" "0" "02330" "PROM1_000107" "g.16026825del" "" "" "" "PROM1(NM_001145847.2):c.595delA (p.T199Lfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16025202del" "" "pathogenic" "" "0000609112" "0" "90" "4" "16077309" "16077309" "subst" "4.1402E-6" "02330" "PROM1_000108" "g.16077309C>A" "" "" "" "PROM1(NM_001145847.2):c.220+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16075686C>A" "" "pathogenic" "" "0000621370" "0" "30" "4" "15985986" "15985986" "subst" "0" "02330" "PROM1_000098" "g.15985986G>T" "" "" "" "PROM1(NM_006017.3):c.2281-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15984363G>T" "" "likely benign" "" "0000651429" "1" "30" "4" "15994019" "15994019" "subst" "0.0357279" "03575" "PROM1_000062" "g.15994019G>A" "71/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "71 heterozygous; {DB:CLININrs55708318}" "Germline" "" "rs55708318" "0" "" "" "g.15992396G>A" "" "likely benign" "" "0000651430" "1" "30" "4" "16077401" "16077401" "subst" "0.0355585" "03575" "PROM1_000047" "g.16077401G>A" "36/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "36 heterozygous, no homozygous; {DB:CLININrs10033086}" "Germline" "" "rs10033086" "0" "" "" "g.16075778G>A" "" "likely benign" "" "0000651431" "1" "30" "4" "16077515" "16077515" "subst" "0.0276458" "03575" "PROM1_000048" "g.16077515G>A" "35/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "35 heterozygous, no homozygous; {DB:CLININrs10033189}" "Germline" "" "rs10033189" "0" "" "" "g.16075892G>A" "" "likely benign" "" "0000655117" "0" "50" "4" "15992868" "15992868" "subst" "8.34481E-6" "01943" "PROM1_000109" "g.15992868G>C" "" "" "" "PROM1(NM_001145847.1):c.1933C>G (p.L645V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.15991245G>C" "" "VUS" "" "0000655118" "0" "30" "4" "16008270" "16008270" "subst" "0.00117772" "01943" "PROM1_000110" "g.16008270C>T" "" "" "" "PROM1(NM_001145847.1):c.1318G>A (p.V440M), PROM1(NM_006017.3):c.1345G>A (p.(Val449Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16006647C>T" "" "likely benign" "" "0000655119" "0" "90" "4" "16010722" "16010722" "del" "0" "02327" "PROM1_000111" "g.16010722del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16009099del" "" "pathogenic" "" "0000655120" "0" "50" "4" "16035006" "16035006" "subst" "0" "01943" "PROM1_000112" "g.16035006G>A" "" "" "" "PROM1(NM_001145847.1):c.403C>T (p.H135Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16033383G>A" "" "VUS" "" "0000663574" "1" "50" "4" "16026825" "16026825" "del" "0" "00006" "PROM1_000107" "g.16026825del" "" "{PMID:Arno 2017:28132693}" "" "" "biallelic LOF variants in PROM1 cause arRP, individual is a carrier of a probable LOF allele in PROM1" "Germline" "" "" "0" "" "" "g.16025202del" "" "VUS" "" "0000669804" "3" "30" "4" "15994019" "15994019" "subst" "0.0357279" "03575" "PROM1_000062" "g.15994019G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs55708318}" "Germline" "" "rs55708318" "0" "" "" "g.15992396G>A" "" "likely benign" "" "0000677223" "0" "50" "4" "15982076" "15982076" "subst" "6.23963E-6" "02330" "PROM1_000113" "g.15982076G>A" "" "" "" "PROM1(NM_006017.3):c.2458C>T (p.R820C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677224" "0" "30" "4" "15994002" "15994002" "subst" "0.000142326" "01943" "PROM1_000114" "g.15994002T>G" "" "" "" "PROM1(NM_001145847.1):c.1753A>C (p.I585L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677225" "0" "30" "4" "16026841" "16026841" "subst" "0.00024782" "01943" "PROM1_000093" "g.16026841G>C" "" "" "" "PROM1(NM_001145847.1):c.577C>G (p.R193G), PROM1(NM_001145847.2):c.577C>G (p.R193G), PROM1(NM_006017.3):c.604C>G (p.(Arg202Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000684398" "1" "70" "4" "16014922" "16014922" "subst" "0" "00004" "PROM1_000003" "g.16014922G>A" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "Germline" "" "rs137853006" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000684399" "3" "70" "4" "16008261" "16008261" "dup" "0" "00004" "PROM1_000004" "g.16008261dup" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "Germline" "" "" "0" "" "" "g.16006638dup" "" "likely pathogenic (recessive)" "" "0000684400" "1" "70" "4" "16008261" "16008261" "dup" "0" "00004" "PROM1_000004" "g.16008261dup" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "Germline" "" "" "0" "" "" "g.16006638dup" "" "likely pathogenic (recessive)" "" "0000684401" "3" "70" "4" "15991448" "15991448" "subst" "0" "00004" "PROM1_000117" "g.15991448C>A" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "Germline/De novo (untested)" "" "rs373680665" "0" "" "" "g.15989825C>A" "" "likely pathogenic (recessive)" "" "0000684402" "1" "70" "4" "16077523" "16077523" "dup" "0" "00004" "PROM1_000120" "g.16077523dup" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "Germline" "" "" "0" "" "" "g.16075900dup" "" "likely pathogenic" "" "0000684410" "1" "70" "4" "15982151" "15982151" "subst" "7.09059E-6" "00004" "PROM1_000115" "g.15982151A>G" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "Germline" "" "" "0" "" "" "g.15980528A>G" "" "likely pathogenic (recessive)" "" "0000684430" "2" "70" "4" "16008159" "16008159" "subst" "0" "00004" "PROM1_000119" "g.16008159A>G" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "Germline" "" "" "0" "" "" "g.16006536A>G" "" "likely pathogenic (recessive)" "" "0000684433" "2" "70" "4" "16000112" "16000112" "subst" "3.4539E-5" "00004" "PROM1_000118" "g.16000112C>G" "" "{PMID:Boulanger-Scemama 2015:26103963}, {PMID:Boulanger-Scemama 2019:31574917}" "" "" "" "Germline" "" "" "0" "" "" "g.15998489C>G" "" "likely pathogenic (recessive)" "" "0000684678" "1" "90" "4" "16014922" "16014922" "subst" "0" "00004" "PROM1_000003" "g.16014922G>A" "1/86 cases" "{PMID:Kim 2019:31144483}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000685360" "0" "70" "4" "15985995" "15986004" "del" "0" "00004" "PROM1_000116" "g.15985995_15986004del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000685361" "0" "90" "4" "16008261" "16008261" "dup" "0" "00004" "PROM1_000004" "g.16008261dup" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685362" "0" "90" "4" "16010716" "16010716" "subst" "0" "00004" "PROM1_000049" "g.16010716A>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685840" "3" "90" "4" "16034994" "16034994" "subst" "0" "00006" "PROM1_000121" "g.16034994T>A" "" "{PMID:Jinda 2014:24618324}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000689252" "0" "30" "4" "16025928" "16025928" "subst" "0.000199406" "01943" "PROM1_000122" "g.16025928T>C" "" "" "" "PROM1(NM_001145847.1):c.657A>G (p.T219=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000710320" "1" "90" "4" "16014922" "16014922" "subst" "0" "00006" "PROM1_000003" "g.16014922G>A" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "" "Germline" "" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "" "0000710330" "1" "90" "4" "16014922" "16014922" "subst" "0" "00006" "PROM1_000003" "g.16014922G>A" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "" "Germline" "" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "" "0000710799" "0" "70" "4" "16025027" "16025027" "subst" "2.19614E-5" "00006" "PROM1_000076" "g.16025027C>T" "" "{PMID:Kominami 2019:31390656}, {PMID:Kominami 2017:29220607}, {DOI:Kominami 2017:10.1080/13816810.2017.1408846}" "" "G706A" "" "Germline" "" "rs536161084" "0" "" "" "" "" "VUS" "" "0000711873" "0" "70" "4" "16025027" "16025027" "subst" "2.19614E-5" "00006" "PROM1_000076" "g.16025027C>T" "" "{PMID:Kominami 2017:29220607}, {PMID:Kominami 2017:10.1080/13816810.2017.1408846}" "" "G706A" "" "Germline" "" "rs536161084" "0" "" "" "" "" "likely pathogenic" "" "0000713253" "0" "90" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Carss 2017:28041643}" "" "4:16014922G>A ENST00000510224.1:c.1117C>T (Arg373Cys)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713293" "3" "90" "4" "16035000" "16035000" "subst" "1.2192E-5" "00000" "PROM1_000127" "g.16035000G>A" "" "{PMID:Carss 2017:28041643}" "" "4:16035000G>A ENST00000510224.1:c.436C>T (Arg146Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713546" "0" "90" "4" "16010695" "16010696" "del" "1.22024E-5" "00000" "PROM1_000125" "g.16010695_16010696del" "" "{PMID:Carss 2017:28041643}" "" "4:16010694GAT>G ENST00000510224.1:c.1177_1178delAT (Ile393ArgfsTer21)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713614" "0" "90" "4" "15995651" "15995651" "subst" "4.06468E-6" "00000" "PROM1_000002" "g.15995651G>A" "" "{PMID:Carss 2017:28041643}" "" "4:15995651G>A ENST00000510224.1:c.1726C>T (Gln576Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713641" "0" "90" "4" "16002140" "16002140" "subst" "3.26763E-5" "00000" "PROM1_000041" "g.16002140G>T" "" "{PMID:Carss 2017:28041643}" "" "4:16002140G>T ENST00000510224.1:c.1557C>A (Tyr519Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713646" "0" "90" "4" "16000112" "16000112" "subst" "3.4539E-5" "00000" "PROM1_000118" "g.16000112C>G" "" "{PMID:Carss 2017:28041643}" "" "4:16000112C>G ENST00000510224.1:c.1579-1G>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713681" "0" "90" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Carss 2017:28041643}" "" "4:16014922G>A ENST00000510224.1:c.1117C>T (Arg373Cys)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000713835" "0" "90" "4" "16025003" "16025003" "subst" "1.69052E-5" "00000" "PROM1_000008" "g.16025003G>A" "" "{PMID:Carss 2017:28041643}" "" "4:16025003G>A ENST00000510224.1:c.730C>T (Arg244Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713871" "0" "90" "4" "15995667" "15995667" "subst" "4.06494E-6" "00000" "PROM1_000123" "g.15995667G>T" "" "{PMID:Carss 2017:28041643}" "" "4:15995667G>T ENST00000510224.1:c.1710C>A (Tyr570Ter)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713885" "0" "90" "4" "16019941" "16019941" "subst" "4.06987E-6" "00000" "PROM1_000126" "g.16019941C>T" "" "{PMID:Carss 2017:28041643}" "" "4:16019941C>T ENST00000510224.1:c.1002+5G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713888" "0" "90" "4" "16008261" "16008262" "ins" "0" "00000" "PROM1_000124" "g.16008261_16008262insA" "" "{PMID:Carss 2017:28041643}" "" "4:16008260T>TA ENST00000510224.1:c.1354dupT (Tyr452LeufsTer13)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000729792" "1" "90" "4" "16000078" "16000078" "del" "0" "00000" "PROM1_000130" "g.16000078del" "" "{PMID:Wawrocka 2018:29769798}" "" "" "" "Germline" "" "" "0" "" "" "g.15998455del" "" "pathogenic (recessive)" "" "0000729799" "2" "90" "4" "15982145" "15982145" "dup" "0" "00000" "PROM1_000128" "g.15982145dup" "" "{PMID:Wawrocka 2018:29769798}" "" "" "" "Germline" "" "" "0" "" "" "g.15980522dup" "" "pathogenic (recessive)" "" "0000730611" "1" "90" "4" "16035000" "16035000" "subst" "1.2192E-5" "00000" "PROM1_000127" "g.16035000G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.16033377G>A" "" "pathogenic (recessive)" "" "0000730612" "3" "90" "4" "16077331" "16077331" "subst" "0" "00000" "PROM1_000131" "g.16077331G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.16075708G>A" "" "pathogenic (recessive)" "" "0000730613" "3" "90" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.16006643dup" "" "pathogenic (recessive)" "" "0000730614" "3" "90" "4" "15993929" "15993929" "subst" "0" "00000" "PROM1_000129" "g.15993929A>C" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.15992306A>C" "" "pathogenic (recessive)" "" "0000730615" "3" "90" "4" "16010732" "16010732" "subst" "3.27394E-5" "00000" "PROM1_000105" "g.16010732C>T" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.16009109C>T" "" "pathogenic (recessive)" "" "0000730690" "1" "90" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.16013299G>A" "" "pathogenic (dominant)" "" "0000730790" "2" "90" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.16006643dup" "" "pathogenic (recessive)" "" "0000731005" "3" "70" "4" "15991381" "15991381" "subst" "4.17728E-6" "00000" "PROM1_000132" "g.15991381G>A" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs530749007" "0" "" "" "g.15989758G>A" "" "likely pathogenic (recessive)" "" "0000731024" "1" "70" "4" "16037357" "16037357" "subst" "1.6259E-5" "00000" "PROM1_000134" "g.16037357C>T" "" "{PMID:Bryant 2018:29343940}" "" "" "" "Germline" "" "rs777673930" "0" "" "" "g.16035734C>T" "" "likely pathogenic (recessive)" "" "0000731025" "1" "70" "4" "16000066" "16000067" "del" "0" "00000" "PROM1_000133" "g.16000066_16000067del" "" "{PMID:Bryant 2018:29343940}" "" "1623_1624del" "" "Germline" "" "" "0" "" "" "g.15998443_15998444del" "" "likely pathogenic (recessive)" "" "0000731156" "3" "90" "4" "15989284" "15989284" "del" "2.88154E-5" "00000" "PROM1_000135" "g.15989284del" "" "{PMID:Porto 2017:29186038}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000731168" "3" "70" "4" "16024948" "16024948" "subst" "0" "00000" "PROM1_000136" "g.16024948C>A" "" "{PMID:Porto 2017:29186038}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000732390" "1" "90" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Sheremet 2017:28980559}" "" "C1117T" "" "Germline" "" "rs137853006" "0" "" "" "g.16013299G>A" "" "pathogenic" "" "0000732391" "1" "90" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Sheremet 2017:28980559}" "" "C1117T" "" "Germline" "" "rs137853006" "0" "" "" "g.16013299G>A" "" "pathogenic" "" "0000732392" "3" "90" "4" "16014925" "16014925" "subst" "0" "00000" "PROM1_000140" "g.16014925G>A" "" "{PMID:Sheremet 2017:28980559}" "" "C1114T" "" "Germline" "" "" "0" "" "" "g.16013302G>A" "" "pathogenic" "" "0000732850" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000732938" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000732964" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000732965" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000733164" "3" "70" "4" "16026825" "16026825" "del" "0" "00000" "PROM1_000107" "g.16026825del" "" "{PMID:Stone 2017:28559085}" "" "620delA" "" "Germline" "" "" "0" "" "" "g.16025202del" "" "likely pathogenic" "" "0000733165" "1" "70" "4" "16019941" "16019941" "subst" "4.06987E-6" "00000" "PROM1_000126" "g.16019941C>T" "" "{PMID:Stone 2017:28559085}" "" "IVS8+5G>A" "" "Germline" "" "" "0" "" "" "g.16018318C>T" "" "likely pathogenic" "" "0000733603" "2" "70" "4" "15995696" "15995696" "subst" "4.06521E-6" "00000" "PROM1_000138" "g.15995696T>C" "" "{PMID:Stone 2017:28559085}" "" "IVS14-2A>G" "" "Germline" "" "" "0" "" "" "g.15994073T>C" "" "likely pathogenic" "" "0000734345" "1" "70" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Huang 2017:28512305}" "" "1984A>T (Lys662*)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000734346" "1" "70" "4" "16014963" "16014963" "subst" "0" "00000" "PROM1_000141" "g.16014963T>A" "" "{PMID:Huang 2017:28512305}" "" "" "" "Germline" "" "" "0" "" "" "g.16013340T>A" "" "likely pathogenic" "" "0000734394" "2" "70" "4" "15993870" "15993870" "subst" "0" "00000" "PROM1_000137" "g.15993870C>T" "" "{PMID:Huang 2017:28512305}" "" "" "" "Germline" "" "" "0" "" "" "g.15992247C>T" "" "likely pathogenic" "" "0000734395" "2" "70" "4" "16024985" "16024985" "del" "0" "00000" "PROM1_000142" "g.16024985del" "" "{PMID:Huang 2017:28512305}" "" "748delA" "" "Germline" "" "" "0" "" "" "g.16023362del" "" "likely pathogenic" "" "0000734415" "3" "90" "4" "16008234" "16008234" "dup" "0" "00000" "PROM1_000139" "g.16008234dup" "" "{PMID:Habibi 2016:27874104}" "" "NM_001145848.1:c.1354dupT (Y452fs*12)" "" "Germline" "" "" "0" "" "" "g.16006611dup" "" "pathogenic (recessive)" "" "0000734693" "3" "70" "4" "16034994" "16034994" "subst" "0" "00000" "PROM1_000121" "g.16034994T>A" "" "{PMID:Jinda 2017:28453600}" "" "" "" "Germline" "" "" "0" "" "" "g.16033371T>A" "" "likely pathogenic (recessive)" "" "0000735177" "3" "50" "4" "15992882" "15992882" "subst" "2.51029E-5" "00000" "PROM1_000144" "g.15992882G>A" "" "{PMID:Li 2017:28418496}" "" "" "" "Germline" "" "" "0" "" "" "g.15991259G>A" "" "VUS" "" "0000735178" "3" "50" "4" "15992882" "15992882" "subst" "2.51029E-5" "00000" "PROM1_000144" "g.15992882G>A" "" "{PMID:Li 2017:28418496}" "" "" "" "Germline" "" "" "0" "" "" "g.15991259G>A" "" "VUS" "" "0000735646" "0" "90" "4" "16002235" "16002235" "subst" "0" "00000" "PROM1_000042" "g.16002235C>A" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.16000612C>A" "" "pathogenic" "" "0000735647" "0" "90" "4" "15982084" "15982084" "subst" "0" "00000" "PROM1_000036" "g.15982084T>C" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "yes" "" "0" "" "" "g.15980461T>C" "" "pathogenic" "" "0000735648" "0" "90" "4" "16040586" "16040586" "dup" "0" "00000" "PROM1_000046" "g.16040586dup" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.16038963dup" "" "pathogenic" "" "0000735759" "0" "90" "4" "15992840" "15992840" "subst" "0" "00000" "PROM1_000143" "g.15992840C>A" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.15991217C>A" "" "pathogenic" "" "0000735760" "0" "90" "4" "16040586" "16040586" "dup" "0" "00000" "PROM1_000046" "g.16040586dup" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.16038963dup" "" "pathogenic" "" "0000735841" "1" "70" "4" "16077527" "16077527" "subst" "0" "00000" "PROM1_000149" "g.16077527C>T" "" "{PMID:Riera 2017:28181551}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16075904C>T" "" "likely pathogenic" "" "0000735861" "2" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Riera 2017:28181551}" "" "1354_1355insT" "" "Germline" "yes" "" "0" "" "" "g.16006643dup" "" "likely pathogenic" "" "0000735905" "3" "70" "4" "15991448" "15991448" "subst" "0" "02485" "PROM1_000117" "g.15991448C>A" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Germline" "yes" "" "0" "" "" "g.15989825C>A" "" "likely pathogenic" "" "0000735937" "0" "70" "4" "16002146" "16002146" "subst" "0" "02485" "PROM1_000146" "g.16002146T>C" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16000523T>C" "" "likely pathogenic" "" "0000735938" "0" "70" "4" "16000106" "16000106" "subst" "0" "02485" "PROM1_000145" "g.16000106C>T" "" "{PMID:Bravo-Gil 2017:28157192}" "" "" "" "Germline" "" "" "0" "" "" "g.15998483C>T" "" "likely pathogenic" "" "0000736078" "1" "70" "4" "16034951" "16034951" "del" "0" "00000" "PROM1_000147" "g.16034951del" "" "{PMID:Huang 2018:29641573}" "" "c.485_485delT" "" "Germline" "" "" "0" "" "" "g.16033328del" "" "likely pathogenic" "" "0000736125" "2" "70" "4" "16077393" "16077393" "del" "0" "00000" "PROM1_000148" "g.16077393del" "" "{PMID:Huang 2018:29641573}" "" "c.139_139delC" "" "Germline" "" "" "0" "" "" "g.16075770del" "" "likely pathogenic" "" "0000736351" "1" "90" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "pathogenic (dominant)" "ACMG" "0000736352" "1" "90" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "pathogenic (dominant)" "ACMG" "0000736353" "1" "90" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Van Cauwenbergh 2017:28076437}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "pathogenic (dominant)" "ACMG" "0000759944" "3" "90" "4" "16035056" "16035056" "subst" "0" "00000" "PROM1_000157" "g.16035056C>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.16033433C>T" "" "pathogenic (recessive)" "" "0000760004" "0" "50" "4" "16010732" "16010732" "subst" "3.27394E-5" "00000" "PROM1_000105" "g.16010732C>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.16009109C>T" "" "VUS" "" "0000760167" "0" "50" "4" "15985951" "15985951" "del" "0" "00000" "PROM1_000150" "g.15985951del" "" "{PMID:Ellingford 2016:27208204}" "" "2309delC" "" "Germline" "" "" "0" "" "" "g.15984328del" "" "VUS" "" "0000760174" "3" "50" "4" "16014893" "16014893" "subst" "0" "00000" "PROM1_000153" "g.16014893C>G" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.16013270C>G" "" "VUS" "" "0000760175" "0" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Ellingford 2016:27208204}" "" "1354dupT" "" "Germline" "" "" "0" "" "" "g.16006643dup" "" "likely pathogenic" "" "0000760205" "0" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Ellingford 2016:27208204}" "" "1354dupT" "" "Germline" "" "" "0" "" "" "g.16006643dup" "" "likely pathogenic" "" "0000760237" "0" "50" "4" "16000058" "16000058" "subst" "3.30767E-5" "00000" "PROM1_000152" "g.16000058C>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.15998435C>A" "" "VUS" "" "0000760272" "0" "50" "4" "16014897" "16014897" "subst" "1.21904E-5" "00000" "PROM1_000154" "g.16014897C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.16013274C>T" "" "VUS" "" "0000760310" "0" "70" "4" "16002140" "16002140" "subst" "3.26763E-5" "00000" "PROM1_000041" "g.16002140G>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.16000517G>T" "" "likely pathogenic" "" "0000760324" "0" "50" "4" "16025917" "16025917" "subst" "0" "00000" "PROM1_000156" "g.16025917C>T" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.16024294C>T" "" "VUS" "" "0000760427" "0" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Ellingford 2016:27208204}" "" "1354dupT" "" "Germline" "" "" "0" "" "" "g.16006643dup" "" "likely pathogenic" "" "0000760433" "0" "50" "4" "16000112" "16000112" "subst" "3.4539E-5" "00000" "PROM1_000118" "g.16000112C>G" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.15998489C>G" "" "VUS" "" "0000760443" "0" "50" "4" "16025914" "16025914" "subst" "4.07864E-6" "00000" "PROM1_000155" "g.16025914T>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.16024291T>A" "" "VUS" "" "0000760461" "0" "50" "4" "15995687" "15995687" "del" "0" "00000" "PROM1_000151" "g.15995687del" "" "{PMID:Ellingford 2016:27208204}" "" "1697delA" "" "Germline" "" "" "0" "" "" "g.15994064del" "" "VUS" "" "0000760479" "0" "50" "4" "16000058" "16000058" "subst" "3.30767E-5" "00000" "PROM1_000152" "g.16000058C>A" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.15998435C>A" "" "VUS" "" "0000760491" "0" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Ellingford 2016:27208204}" "" "1354dupT" "" "Germline" "" "" "0" "" "" "g.16006643dup" "" "likely pathogenic" "" "0000760494" "0" "50" "4" "16000112" "16000112" "subst" "3.4539E-5" "00000" "PROM1_000118" "g.16000112C>G" "" "{PMID:Ellingford 2016:27208204}" "" "" "" "Germline" "" "" "0" "" "" "g.15998489C>G" "" "VUS" "" "0000760608" "1" "90" "4" "16008201" "16008201" "subst" "0" "00000" "PROM1_000102" "g.16008201G>A" "" "{PMID:Khan 2017:27160483}" "" "" "a dominant pedigree with a single recessive allele" "Germline" "" "" "0" "" "" "g.16006578G>A" "" "pathogenic (recessive)" "" "0000764027" "1" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Oishi 2016:26957898}" "" "" "" "Germline" "" "rs137853006" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000764888" "1" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic (dominant)" "" "0000764889" "1" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic (dominant)" "" "0000764918" "3" "70" "4" "15989860" "15989860" "subst" "0" "00000" "PROM1_000021" "g.15989860T>C" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.15988237T>C" "" "likely pathogenic (recessive)" "" "0000764923" "1" "70" "4" "16008288" "16008288" "dup" "0" "00000" "PROM1_000158" "g.16008288dup" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.16006665dup" "" "likely pathogenic (recessive)" "" "0000764943" "2" "70" "4" "16002140" "16002140" "subst" "3.26763E-5" "00000" "PROM1_000041" "g.16002140G>T" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.16000517G>T" "" "likely pathogenic (recessive)" "" "0000765567" "0" "90" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Ge 2015:26667666}" "" "" "" "Germline" "" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "" "0000765759" "3" "70" "4" "15989284" "15989284" "del" "2.88154E-5" "00000" "PROM1_000135" "g.15989284del" "" "{PMID:Patel 2016:26355662}" "" "c.2130+2delT" "" "Germline" "" "" "0" "" "" "g.15987661del" "" "likely pathogenic" "" "0000765855" "0" "70" "4" "16026841" "16026841" "subst" "0.00024782" "00000" "PROM1_000093" "g.16026841G>C" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.16025218G>C" "" "likely pathogenic" "" "0000765924" "11" "70" "4" "15989284" "15989284" "del" "2.88154E-5" "00000" "PROM1_000135" "g.15989284del" "" "{PMID:Patel 2016:26355662}" "" "c.2130+2delT" "" "Germline" "" "" "0" "" "" "g.15987661del" "" "likely pathogenic" "" "0000784135" "0" "70" "4" "16020080" "16020080" "subst" "0.00267201" "00000" "PROM1_000072" "g.16020080T>G" "6/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs182096110" "0" "" "" "g.16018457T>G" "" "likely pathogenic (recessive)" "" "0000784221" "1" "90" "4" "16077393" "16077393" "del" "0" "00000" "PROM1_000148" "g.16077393del" "" "{PMID:Xu 2014:24938718}" "" "c.139delC" "" "Germline" "" "" "0" "" "" "g.16075770del" "" "pathogenic (recessive)" "" "0000784241" "0" "70" "4" "15982073" "15982073" "subst" "0" "00000" "PROM1_000164" "g.15982073G>A" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.15980450G>A" "" "likely pathogenic (recessive)" "" "0000784252" "0" "70" "4" "16077393" "16077393" "del" "0" "00000" "PROM1_000148" "g.16077393del" "2/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "c.139delC" "" "Germline" "" "" "0" "" "" "g.16075770del" "" "likely pathogenic (recessive)" "" "0000784333" "0" "70" "4" "16020080" "16020080" "subst" "0.00267201" "00000" "PROM1_000072" "g.16020080T>G" "6/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs182096110" "0" "" "" "g.16018457T>G" "" "likely pathogenic (recessive)" "" "0000784355" "0" "70" "4" "16020080" "16020080" "subst" "0.00267201" "00000" "PROM1_000072" "g.16020080T>G" "6/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs182096110" "0" "" "" "g.16018457T>G" "" "likely pathogenic (recessive)" "" "0000784356" "0" "70" "4" "15981028" "15981028" "subst" "0" "00000" "PROM1_000159" "g.15981028C>A" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.15979405C>A" "" "likely pathogenic (recessive)" "" "0000784369" "0" "70" "4" "16020080" "16020080" "subst" "0.00267201" "00000" "PROM1_000072" "g.16020080T>G" "6/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs182096110" "0" "" "" "g.16018457T>G" "" "likely pathogenic (recessive)" "" "0000784372" "0" "70" "4" "16020080" "16020080" "subst" "0.00267201" "00000" "PROM1_000072" "g.16020080T>G" "6/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs182096110" "0" "" "" "g.16018457T>G" "" "likely pathogenic (recessive)" "" "0000784390" "0" "70" "4" "16020080" "16020080" "subst" "0.00267201" "00000" "PROM1_000072" "g.16020080T>G" "6/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs182096110" "0" "" "" "g.16018457T>G" "" "likely pathogenic (recessive)" "" "0000784425" "0" "50" "4" "16017783" "16017783" "subst" "0.000334272" "00000" "PROM1_000031" "g.16017783G>C" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "rs146390632" "0" "" "" "g.16016160G>C" "" "VUS" "" "0000784462" "0" "50" "4" "16010658" "16010658" "subst" "7.33156E-5" "00000" "PROM1_000069" "g.16010658T>C" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.16009035T>C" "" "VUS" "" "0000784472" "0" "50" "4" "15981943" "15981943" "dup" "0" "00000" "PROM1_000162" "g.15981943dup" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "c.2489+118dupT" "" "Germline" "" "" "0" "" "" "g.15980320dup" "" "VUS" "" "0000784509" "0" "50" "4" "15981531" "15981531" "subst" "0" "00000" "PROM1_000160" "g.15981531T>C" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.15979908T>C" "" "VUS" "" "0000784561" "0" "50" "4" "15981924" "15981924" "subst" "0" "00000" "PROM1_000161" "g.15981924A>C" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.15980301A>C" "" "VUS" "" "0000784571" "0" "50" "4" "16019978" "16019978" "subst" "3.65919E-5" "00000" "PROM1_000168" "g.16019978T>C" "1/314 case chromosomes" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.16018355T>C" "" "VUS" "" "0000784587" "2" "90" "4" "16010635" "16010635" "subst" "2.04422E-5" "00000" "PROM1_000166" "g.16010635A>T" "" "{PMID:Xu 2014:24938718}" "" "" "" "Germline" "" "" "0" "" "" "g.16009012A>T" "" "pathogenic (recessive)" "" "0000785554" "3" "90" "4" "16000045" "16000048" "del" "0" "00000" "PROM1_000165" "g.16000045_16000048del" "" "{PMID:Liu 2015:25611614}" "" "c.1645_1648del" "" "Germline" "" "" "0" "" "" "g.15998422_15998425del" "" "pathogenic (recessive)" "" "0000785555" "3" "90" "4" "16000045" "16000048" "del" "0" "00000" "PROM1_000165" "g.16000045_16000048del" "" "{PMID:Liu 2015:25611614}" "" "c.1645_1648del" "" "Germline" "" "" "0" "" "" "g.15998422_15998425del" "" "pathogenic (recessive)" "" "0000785556" "3" "90" "4" "16000045" "16000048" "del" "0" "00000" "PROM1_000165" "g.16000045_16000048del" "" "{PMID:Liu 2015:25611614}" "" "c.1645_1648del" "" "Germline" "" "" "0" "" "" "g.15998422_15998425del" "" "pathogenic (recessive)" "" "0000785603" "0" "90" "4" "16019968" "16019968" "subst" "4.06613E-6" "00000" "PROM1_000167" "g.16019968T>C" "" "{PMID:Zaneveld 2015:25474345}" "" "" "" "Germline" "" "" "0" "" "" "g.16018345T>C" "" "pathogenic" "" "0000785604" "1" "90" "4" "15982068" "15982068" "subst" "0" "00000" "PROM1_000163" "g.15982068C>T" "" "{PMID:Zaneveld 2015:25474345}" "" "" "" "Germline" "" "" "0" "" "" "g.15980445C>T" "" "pathogenic (recessive)" "" "0000785608" "2" "90" "4" "16037385" "16037385" "subst" "0" "00000" "PROM1_000169" "g.16037385C>T" "" "{PMID:Zaneveld 2015:25474345}" "" "" "" "Germline" "" "" "0" "" "" "g.16035762C>T" "" "pathogenic (recessive)" "" "0000786354" "1" "90" "4" "16008259" "16008260" "ins" "0" "00000" "PROM1_000170" "g.16008259_16008260insA" "" "{PMID:Zhao 2015:25472526}" "" "" "" "Germline" "" "" "0" "" "" "g.16006636_16006637insA" "" "pathogenic" "" "0000786392" "2" "90" "4" "16026825" "16026825" "del" "0" "00000" "PROM1_000107" "g.16026825del" "" "{PMID:Zhao 2015:25472526}" "" "622del" "" "Germline" "" "" "0" "" "" "g.16025202del" "" "pathogenic" "" "0000786412" "3" "90" "4" "16010716" "16010716" "subst" "0" "00000" "PROM1_000049" "g.16010716A>T" "" "{PMID:Consugar 2015:25412400}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16009093A>T" "" "pathogenic (recessive)" "" "0000786415" "3" "90" "4" "16010716" "16010716" "subst" "0" "00000" "PROM1_000049" "g.16010716A>T" "" "{PMID:Consugar 2015:25412400}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16009093A>T" "" "pathogenic (recessive)" "" "0000786453" "1" "90" "4" "16077349" "16077349" "subst" "0.000329719" "00000" "PROM1_000171" "g.16077349T>C" "" "{PMID:Consugar 2015:25412400}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16075726T>C" "" "pathogenic (dominant)" "" "0000787645" "3" "70" "4" "15993960" "15993960" "del" "0" "00000" "PROM1_000172" "g.15993960del" "" "{PMID:Huang 2015:25356976}" "" "1824delT" "" "Germline" "yes" "" "0" "" "" "g.15992337del" "" "likely pathogenic" "" "0000787663" "1" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000787691" "1" "70" "4" "16035000" "16035000" "subst" "1.2192E-5" "00000" "PROM1_000127" "g.16035000G>A" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16033377G>A" "" "likely pathogenic" "" "0000787692" "1" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Huang 2015:25356976}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000787728" "2" "70" "4" "16010646" "16010647" "del" "0" "00000" "PROM1_000173" "g.16010646_16010647del" "" "0" "" "1229_1230delCT" "" "Germline" "yes" "" "0" "" "" "g.16009023_16009024del" "" "likely pathogenic" "" "0000788365" "0" "50" "4" "16010678" "16010678" "subst" "3.66202E-5" "00000" "PROM1_000174" "g.16010678G>A" "" "{PMID:Katagiri 2014:25268133}" "" "C1195T" "" "Germline" "" "" "0" "" "" "g.16009055G>A" "" "VUS" "" "0000788451" "0" "50" "4" "16010674" "16010674" "subst" "8.54402E-5" "00000" "PROM1_000027" "g.16010674A>G" "" "{PMID:Katagiri 2014:25268133}" "" "T1199C" "" "Germline" "" "rs140682455" "0" "" "" "g.16009051A>G" "" "VUS" "" "0000788528" "1" "90" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Watson 2014:25133751}" "" "" "" "Germline" "" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "" "0000789910" "11" "90" "4" "16025003" "16025003" "subst" "1.69052E-5" "00006" "PROM1_000008" "g.16025003G>A" "" "{PMID:Zhang 2014:24763286}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000789911" "21" "90" "4" "15992844" "15992844" "subst" "0" "00006" "PROM1_000175" "g.15992844C>A" "" "{PMID:Zhang 2014:24763286}" "" "1983+1C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000790629" "0" "50" "4" "16077475" "16077475" "subst" "0.0147903" "00000" "PROM1_000177" "g.16077475A>C" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs189108830" "0" "" "" "g.16075852A>C" "" "VUS" "" "0000790662" "0" "50" "4" "15991380" "15991380" "subst" "0" "00000" "PROM1_000176" "g.15991380C>G" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "g.15989757C>G" "" "VUS" "" "0000790686" "1" "90" "4" "0" "0" "" "0" "00000" "TRAPPC11_000000" "g.?" "" "{PMID:Daiger 2014:24664689}" "" "Arg373Cys" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000791223" "10" "90" "4" "16010732" "16010732" "subst" "3.27394E-5" "00000" "PROM1_000105" "g.16010732C>T" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.16009109C>T" "" "pathogenic" "ACMG" "0000791226" "3" "90" "4" "16000078" "16000078" "del" "0" "00000" "PROM1_000130" "g.16000078del" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.15998455del" "" "pathogenic" "ACMG" "0000791227" "3" "90" "4" "16000078" "16000078" "del" "0" "00000" "PROM1_000130" "g.16000078del" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.15998455del" "" "pathogenic" "ACMG" "0000791232" "3" "90" "4" "15995687" "15995687" "dup" "0" "00000" "PROM1_000178" "g.15995687dup" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.15994064dup" "" "pathogenic" "ACMG" "0000791240" "0" "90" "4" "15995687" "15995687" "dup" "0" "00000" "PROM1_000178" "g.15995687dup" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "" "" "0" "" "" "g.15994064dup" "" "pathogenic" "ACMG" "0000791261" "21" "90" "4" "16034997" "16034997" "subst" "0" "00000" "PROM1_000179" "g.16034997G>A" "0 (in-house database, ~5000 samples)" "Tracewska 2021, MolVis in press" "" "" "" "Germline" "yes" "" "0" "" "" "g.16033374G>A" "" "pathogenic" "ACMG" "0000791444" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000791912" "0" "10" "4" "16008310" "16008310" "subst" "0" "00000" "PROM1_000180" "g.16008310G>A" "" "{PMID:Bowne 2011:20861475}" "" "c.1302+3C>T" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000792023" "3" "30" "4" "15992882" "15992882" "subst" "2.51029E-5" "00000" "PROM1_000144" "g.15992882G>A" "1/90 controls" "{PMID:Littink 2010:20554613}" "" "c.1946C>T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000792027" "3" "50" "4" "16010732" "16010732" "subst" "3.27394E-5" "00000" "PROM1_000105" "g.16010732C>T" "" "{PMID:Littink 2010:20554613}" "" "c.11421G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000792028" "3" "50" "4" "16010732" "16010732" "subst" "3.27394E-5" "00000" "PROM1_000105" "g.16010732C>T" "" "{PMID:Littink 2010:20554613}" "" "c.11421G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000792265" "0" "90" "4" "16035122" "16035122" "subst" "2.21102E-5" "00000" "TRAPPC11_000000" "g.16035122T>C" "" "{PMID:_Audo-2012:22277662}" "" "c.314A>G" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000792348" "0" "70" "4" "16014922" "16014922" "subst" "0" "03508" "PROM1_000003" "g.16014922G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000793951" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:O\'Sullivan-2012:22581970}" "" "c.1117C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793956" "3" "70" "4" "15995651" "15995651" "subst" "4.06468E-6" "00000" "PROM1_000002" "g.15995651G>A" "" "{PMID:O\'Sullivan-2012:22581970}" "" "c.[1726C>T]+[1726C>T]" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000794232" "0" "70" "4" "15993905" "15993906" "del" "0" "03508" "PROM1_000181" "g.15993905_15993906del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.15992282_15992283del" "" "pathogenic" "ACMG" "0000794236" "0" "70" "4" "16010681" "16010681" "subst" "0" "03508" "PROM1_000182" "g.16010681G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000794356" "0" "90" "4" "16008201" "16008201" "subst" "0" "00000" "PROM1_000102" "g.16008201G>A" "" "{PMID:Wang 2018:30029497}" "" "NM_006017.2:c.1414C>T, NP_006008.1:p.(Arg472Ter), NC_000004.11:g.16008201G>A" "" "Germline" "?" "" "0" "" "" "g.16006578G>A" "" "pathogenic" "ACMG" "0000794705" "0" "70" "4" "16008270" "16008270" "subst" "0.00117772" "00000" "PROM1_000110" "g.16008270C>T" "" "{PMID:Kersten 2018:30215852}" "" "c.1345G>A; p.V449?M" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.16006647C>T" "" "likely pathogenic" "" "0000794706" "0" "70" "4" "16077375" "16077375" "subst" "4.87979E-5" "00000" "PROM1_000183" "g.16077375A>G" "" "{PMID:Kersten 2018:30215852}" "" "c.155T>C; p.I52T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.16075752A>G" "" "likely pathogenic" "" "0000794720" "0" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Kersten 2018:30215852}" "" "c.1355A>TA; p.Y452YX" "uncertain annotation" "Germline/De novo (untested)" "" "" "0" "" "" "g.16006643dup" "" "likely pathogenic" "" "0000795785" "3" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Perez-Carro 2018:29912909}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16006643dup" "" "likely pathogenic" "" "0000795933" "0" "90" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Schorderet-2013:23484092}" "" "p.PROM1-R373C" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000795948" "3" "90" "4" "15985881" "15985881" "subst" "0" "00000" "PROM1_000184" "g.15985881C>A" "" "{PMID:Chen-2013:23462753}" "" "c.2373+5G>T(Unknown)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796733" "0" "90" "4" "16010644" "16010664" "del" "1.63227E-5" "00000" "PROM1_000187" "g.16010644_16010664del" "" "{PMID:Eisenberger-2013:24265693}" "" "c.1209_1229del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796735" "0" "90" "4" "16025970" "16025970" "subst" "1.23954E-5" "00000" "PROM1_000188" "g.16025970A>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.642T>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000796823" "0" "70" "4" "15989322" "15989322" "subst" "0.000106905" "00000" "PROM1_000185" "g.15989322G>T" "" "{PMID:Eisenberger-2013:24265693}" "" "c.2094C>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796892" "0" "90" "4" "16026936" "16026936" "subst" "4.06616E-6" "00000" "PROM1_000007" "g.16026936C>T" "" "{PMID:Wang-2014:24154662}" "" "c.510-1G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796893" "0" "90" "4" "15991420" "15991420" "subst" "0" "00000" "PROM1_000010" "g.15991420T>A" "" "{PMID:Wang-2014:24154662}" "" "c.2011A>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796897" "0" "90" "4" "16008260" "16008261" "ins" "0.000205631" "00000" "PROM1_000186" "g.16008260_16008261insA" "" "{PMID:Wang-2014:24154662}" "" "c.1354_1355insT" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796898" "0" "90" "4" "16025003" "16025003" "subst" "1.69052E-5" "00000" "PROM1_000008" "g.16025003G>A" "" "{PMID:Wang-2014:24154662}" "" "c.730C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000797100" "3" "90" "4" "15993929" "15993929" "subst" "0" "00000" "PROM1_000129" "g.15993929A>C" "" "{PMID:Birtel 2018:30543658}" "" "c.1853T>G, p.Leu618Arg" "Homozygous" "Germline" "yes" "" "0" "" "" "g.15992306A>C" "" "pathogenic" "ACMG" "0000797194" "0" "50" "4" "16010644" "16010664" "del" "1.63227E-5" "00000" "PROM1_000187" "g.16010644_16010664del" "" "{PMID:Weisschuh 2018:30576320}" "" "allele 1: c.1209_1229/p.Q403_S410delinsH, allele 2: c.1209_1229/p.Q403_S410delinsH" "homozygous" "Germline" "yes" "" "0" "" "" "g.16009021_16009041del" "" "VUS" "ACMG" "0000797419" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Patel 2019:30653986}" "" "c.1117C-->T; p.Arg373Cys" "no Sanger sequencing; heterozygous" "Germline" "?" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000797620" "0" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Jespersgaar 2019:30718709}" "" "EYS c.7412-1G>C, p.(?), c.2023+5G>T, p.(?),, pROM1 c.1354dup, p.(Tyr452*)" "error in annotation: p.(Tyr452*) instead of p.(Tyr452Leufs*13)" "Germline" "?" "" "0" "" "" "g.16006643dup" "" "likely pathogenic" "ACMG" "0000797727" "0" "90" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "PROM1 c.1117C>T, p.(Arg373Cys)" "" "Germline" "?" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "ACMG" "0000797730" "0" "90" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "PROM1 c.1117C>T, p.(Arg373Cys)" "" "Germline" "?" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "ACMG" "0000797731" "0" "70" "4" "16026813" "16026813" "subst" "0" "00000" "PROM1_000191" "g.16026813A>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "PROM1 c.630+2T>A, p.(?), c.2461C>T, p.(Arg821*)" "" "Germline" "?" "" "0" "" "" "g.16025190A>T" "" "likely pathogenic" "ACMG" "0000797732" "0" "70" "4" "15982073" "15982073" "subst" "0" "00000" "PROM1_000164" "g.15982073G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "PROM1 c.630+2T>A, p.(?), c.2461C>T, p.(Arg821*)" "" "Germline" "?" "" "0" "" "" "g.15980450G>A" "" "likely pathogenic" "ACMG" "0000797733" "0" "70" "4" "16026813" "16026813" "subst" "0" "00000" "PROM1_000191" "g.16026813A>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "PROM1 c.630+2T>A, p.(?), c.2461C>T, p.(Arg821*), BBS10 c.765G>A, p.(Met255Ile)" "" "Germline" "?" "" "0" "" "" "g.16025190A>T" "" "likely pathogenic" "ACMG" "0000797735" "0" "70" "4" "15982073" "15982073" "subst" "0" "00000" "PROM1_000164" "g.15982073G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "PROM1 c.630+2T>A, p.(?), c.2461C>T, p.(Arg821*), BBS10 c.765G>A, p.(Met255Ile)" "" "Germline" "?" "" "0" "" "" "g.15980450G>A" "" "likely pathogenic" "ACMG" "0000797842" "0" "70" "4" "16008260" "16008260" "dup" "0" "00000" "PROM1_000004" "g.16008260dup" "" "{PMID:Jespersgaar 2019:30718709}" "" "USH2A c.2299del, p.(Glu767Serfs*21), c.4714C>T, p.(Leu1572Phe), c.8254G>A, p.(Gly2752Arg),, pROM1 c.1355dup, p.(Tyr452*)" "" "Germline" "?" "" "0" "" "" "g.16006637dup" "" "likely pathogenic" "ACMG" "0000797869" "0" "70" "4" "15981529" "15981529" "subst" "0.000128422" "00000" "PROM1_000015" "g.15981529T>C" "" "{PMID:Jespersgaar 2019:30718709}" "" "USH2A c.2299del, p.(Glu767Serfs*21), c.4714C>T, p.(Leu1572Phe), c.2276G>T, p.(Cys759Phe), $,, pROM1 c.2490-2A>G, p.(?)" "" "Germline" "?" "" "0" "" "" "g.15979906T>C" "" "likely pathogenic" "ACMG" "0000798047" "0" "50" "4" "15989306" "15989306" "subst" "0" "00000" "PROM1_000189" "g.15989306G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "PROM1 c.1911+8G>A, p.(?), c.2110C>T, p.(Arg704Cys)" "" "Germline" "?" "" "0" "" "" "g.15987683G>A" "" "VUS" "ACMG" "0000798048" "0" "50" "4" "15993863" "15993863" "subst" "0.000366127" "00000" "PROM1_000190" "g.15993863C>T" "" "{PMID:Jespersgaar 2019:30718709}" "" "PROM1 c.1911+8G>A, p.(?), c.2110C>T, p.(Arg704Cys)" "" "Germline" "?" "" "0" "" "" "g.15992240C>T" "" "VUS" "ACMG" "0000798430" "0" "70" "4" "16002140" "16002140" "subst" "3.26763E-5" "00000" "PROM1_000041" "g.16002140G>T" "" "{PMID:Song-2011:22025579}" "" "c.1557C>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000798491" "3" "90" "4" "16010716" "16010716" "subst" "0" "00000" "PROM1_000049" "g.16010716A>T" "" "{PMID:Beryozkin-2014:24474277}" "" "c.1157T>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000801560" "0" "30" "4" "15972722" "15972722" "del" "0" "02330" "PROM1_000192" "g.15972722del" "" "" "" "PROM1(NM_006017.3):c.2583-17delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801561" "0" "70" "4" "15987578" "15987578" "subst" "0" "01943" "PROM1_000193" "g.15987578A>G" "" "" "" "PROM1(NM_001145847.1):c.2184+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000801562" "0" "30" "4" "15992851" "15992851" "subst" "0.00116157" "02330" "PROM1_000022" "g.15992851G>A" "" "" "" "PROM1(NM_001145847.1):c.1950C>T (p.N650=), PROM1(NM_006017.3):c.1977C>T (p.N659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801563" "0" "30" "4" "16000117" "16000117" "subst" "0.000402342" "02330" "PROM1_000087" "g.16000117A>G" "" "" "" "PROM1(NM_001145847.1):c.1552-6T>C, PROM1(NM_006017.3):c.1579-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801564" "0" "50" "4" "16002120" "16002120" "subst" "0.000182758" "01943" "PROM1_000194" "g.16002120C>T" "" "" "" "PROM1(NM_001145847.1):c.1550G>A (p.R517Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801565" "0" "50" "4" "16017812" "16017812" "subst" "0" "01943" "PROM1_000195" "g.16017812C>G" "" "" "" "PROM1(NM_001145847.1):c.1027G>C (p.D343H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801566" "0" "30" "4" "16025934" "16025934" "subst" "0.000537101" "01943" "PROM1_000196" "g.16025934C>T" "" "" "" "PROM1(NM_001145847.1):c.651G>A (p.A217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000811200" "21" "75" "4" "16035036" "16035036" "subst" "2.03318E-5" "03840" "PROM1_000197" "g.16035036G>A" "" "{PMID:Surl 2020:32165824}" "" "PROM1, c.400C > T, p.(Arg134Cys)" "" "Germline" "yes" "" "0" "" "" "g.16033413G>A" "" "pathogenic (maternal)" "" "0000811499" "0" "90" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Kim 2019:31496144}" "" "PROM1 c.1117C>T, p.R373C" "" "Germline" "?" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "ACMG" "0000811720" "0" "50" "4" "16034999" "16034999" "subst" "7.72075E-5" "00000" "PROM1_000204" "g.16034999C>T" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.437G>A, p. Arg146Gln" "unsolved" "Germline" "no" "" "0" "" "" "g.16033376C>T" "" "VUS" "" "0000811721" "0" "50" "4" "16002225" "16002225" "subst" "0" "00000" "PROM1_000199" "g.16002225A>G" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.1472T>C, p.Phe491Ser" "unsolved" "Germline" "no" "" "0" "" "" "g.16000602A>G" "" "VUS" "" "0000811722" "0" "70" "4" "16026825" "16026825" "del" "0" "00000" "PROM1_000107" "g.16026825del" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.622del, p.Thr208Leufs*23" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.16025202del" "" "likely pathogenic" "" "0000811723" "0" "70" "4" "16026814" "16026814" "subst" "0" "00000" "PROM1_000203" "g.16026814C>T" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.630+1G>A, Splicing" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.16025191C>T" "" "likely pathogenic" "" "0000811724" "0" "70" "4" "15991448" "15991448" "subst" "0" "00000" "PROM1_000117" "g.15991448C>A" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.1984-1G>T, Splicing" "solved, homozygous" "Germline" "?" "" "0" "" "" "g.15989825C>A" "" "likely pathogenic" "" "0000811725" "0" "70" "4" "16037357" "16037357" "subst" "1.6259E-5" "00000" "PROM1_000134" "g.16037357C>T" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.303+1G>A, Splicing" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.16035734C>T" "" "likely pathogenic" "" "0000811726" "0" "90" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.1354dup, p.Tyr452Leufs*13" "unsolved, single heterozygous variant in autosomal recessive disease" "Germline" "?" "" "0" "" "" "g.16006643dup" "" "pathogenic" "" "0000811727" "0" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.1354dup, p.Tyr452Leufs*13" "solved, homozygous" "Germline" "?" "" "0" "" "" "g.16006643dup" "" "likely pathogenic" "" "0000811728" "0" "70" "4" "16026814" "16026814" "subst" "0" "00000" "PROM1_000203" "g.16026814C>T" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.630+1G>A, Splicing" "solved, homozygous" "Germline" "?" "" "0" "" "" "g.16025191C>T" "" "likely pathogenic" "" "0000811729" "0" "70" "4" "16008203" "16008203" "del" "0" "00000" "PROM1_000201" "g.16008203del" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.1414del, p.Arg472Glufs*18" "solved, homozygous" "Germline" "?" "" "0" "" "" "g.16006580del" "" "likely pathogenic" "" "0000811730" "0" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.1354dup, p.Tyr452Leufs*13" "solved, homozygous" "Germline" "?" "" "0" "" "" "g.16006643dup" "" "likely pathogenic" "" "0000811731" "0" "70" "4" "15991448" "15991448" "subst" "0" "00000" "PROM1_000117" "g.15991448C>A" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.1984-1G>T, Splicing" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.15989825C>A" "" "likely pathogenic" "" "0000811732" "0" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.1354dup, p.Tyr452Leufs*13" "solved, homozygous" "Germline" "?" "" "0" "" "" "g.16006643dup" "" "likely pathogenic" "" "0000811733" "0" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.1354dup, p.Tyr452Leufs*13" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.16006643dup" "" "likely pathogenic" "" "0000811734" "0" "70" "4" "15989284" "15989284" "del" "2.88154E-5" "00000" "PROM1_000135" "g.15989284del" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.2130+2del, Splicing" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.15987661del" "" "likely pathogenic" "" "0000811735" "0" "70" "4" "15991448" "15991448" "subst" "0" "00000" "PROM1_000117" "g.15991448C>A" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.1984-1G>T, Splicing" "solved, homozygous" "Germline" "?" "" "0" "" "" "g.15989825C>A" "" "likely pathogenic" "" "0000811736" "0" "50" "4" "16035122" "16035122" "subst" "2.21102E-5" "00000" "TRAPPC11_000000" "g.16035122T>C" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.314A>G, p.Tyr105Cys" "unsolved" "Germline" "no" "" "0" "" "" "g.16033499T>C" "" "VUS" "" "0000811737" "0" "70" "4" "16037357" "16037357" "subst" "1.6259E-5" "00000" "PROM1_000134" "g.16037357C>T" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.303+1G>A, Splicing" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.16035734C>T" "" "likely pathogenic" "" "0000811738" "0" "70" "4" "16026814" "16026814" "subst" "0" "00000" "PROM1_000203" "g.16026814C>T" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.630+1G>A, Splicing" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.16025191C>T" "" "likely pathogenic" "" "0000811739" "0" "70" "4" "16026814" "16026814" "subst" "0" "00000" "PROM1_000203" "g.16026814C>T" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.630+1G>A, Splicing" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.16025191C>T" "" "likely pathogenic" "" "0000811740" "0" "70" "4" "16037357" "16037357" "subst" "1.6259E-5" "00000" "PROM1_000134" "g.16037357C>T" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.303+1G>A, Splicing" "solved, heterozygous" "Germline" "?" "" "0" "" "" "g.16035734C>T" "" "likely pathogenic" "" "0000811741" "0" "50" "4" "16026841" "16026841" "subst" "0.00024782" "00000" "PROM1_000093" "g.16026841G>C" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.604C>G, p.Arg202Gly" "unsolved" "Germline" "?" "" "0" "" "" "g.16025218G>C" "" "VUS" "" "0000811742" "0" "70" "4" "16020079" "16020079" "del" "4.06693E-6" "00000" "PROM1_000202" "g.16020079del" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.869del, p.Ser290fs*2" "solved, homozygous" "Germline" "?" "" "0" "" "" "g.16018456del" "" "likely pathogenic" "" "0000811743" "0" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.1354dup, p.Tyr452Leufs*13" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.16006643dup" "" "likely pathogenic" "" "0000811744" "0" "70" "4" "16037356" "16037356" "subst" "0" "00000" "PROM1_000205" "g.16037356A>G" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.303+2T>C, Splicing" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.16035733A>G" "" "likely pathogenic" "" "0000811745" "0" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.1354dup, p.Tyr452Leufs*13" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.16006643dup" "" "likely pathogenic" "" "0000811746" "0" "70" "4" "15995668" "15995669" "ins" "0" "00000" "PROM1_000198" "g.15995668_15995669insTT" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.1709_1710insAA, p.Tyr570*" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.15994045_15994046insTT" "" "likely pathogenic" "" "0000811747" "0" "90" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.1354dup, p.Tyr452Leufs*13" "unsolved, single heterozygous variant in autosomal recessive disease" "Germline" "?" "" "0" "" "" "g.16006643dup" "" "pathogenic" "" "0000811748" "0" "50" "8" "16026841" "16026841" "subst" "0" "00000" "PROM1_000093" "g.16026841G>C" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.604C>G, p.Arg202Gly" "unsolved" "Germline" "?" "" "0" "" "" "g.16025218G>C" "" "VUS" "" "0000811750" "0" "70" "4" "16008180" "16008180" "subst" "0" "00000" "PROM1_000200" "g.16008180C>T" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.1435G>A, p. Gly479Arg" "likely solved, homozygous" "Germline" "?" "" "0" "" "" "g.16006557C>T" "" "likely pathogenic" "" "0000811751" "0" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.1354dup, p.Tyr452Leufs*13" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.16006643dup" "" "likely pathogenic" "" "0000811752" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.1117C>T, p.Arg373Cys" "solved, heterozygous" "Germline" "?" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000811753" "0" "50" "1" "15982126" "15982126" "subst" "0" "00000" "PROM1_000001" "g.15982126A>G" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.2408T>C, p.Val803Ala" "unsolved" "Germline" "no" "" "0" "" "" "g.15980503A>G" "" "VUS" "" "0000811755" "0" "70" "4" "15981529" "15981529" "subst" "0.000128422" "00000" "PROM1_000015" "g.15981529T>C" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.2490-2A>G, Splicing" "unsolved" "Germline" "no" "" "0" "" "" "g.15979906T>C" "" "likely pathogenic" "" "0000811758" "0" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.1354dup, p.Tyr452Leufs*13" "solved, homozygous" "Germline" "?" "" "0" "" "" "g.16006643dup" "" "likely pathogenic" "" "0000811759" "0" "90" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.1354dup, p.Tyr452Leufs*13" "unsolved, single heterozygous variant in autosomal recessive disease" "Germline" "?" "" "0" "" "" "g.16006643dup" "" "pathogenic" "" "0000811760" "0" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Del Pozo-Valero:31129250}" "" "c.1354dup, p.Tyr452Leufs*13" "solved, homozygous" "Germline" "?" "" "0" "" "" "g.16006643dup" "" "likely pathogenic" "" "0000811844" "0" "70" "5" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Gao 2019:31054281}" "" "c.1117C>T, p.Arg373Cys" "heterozygous" "Germline" "?" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000811845" "0" "70" "1" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Gao 2019:31054281}" "" "c.1117C>T, p.Arg373Cys" "heterozygous" "Germline" "?" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000811957" "0" "70" "4" "16014922" "16014922" "subst" "0" "03840" "PROM1_000003" "g.16014922G>A" "" "{PMID:Wolock 2019:30926958}" "" "c.1117C>T, r.(?)" "different transcript, ENST00000447510: 70: heterozygous" "Germline" "" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000811962" "0" "70" "4" "16037357" "16037357" "subst" "1.6259E-5" "03840" "PROM1_000134" "g.16037357C>T" "" "{PMID:Wolock 2019:30926958}" "" "c.303+1G>A, r.spl" "different transcript, ENST00000447510: 70: heterozygous" "Germline" "" "" "0" "" "" "g.16035734C>T" "" "likely pathogenic" "" "0000811963" "0" "70" "4" "16037356" "16037356" "subst" "0" "03840" "PROM1_000205" "g.16037356A>G" "" "{PMID:Wolock 2019:30926958}" "" "c.303+2T>C, r.spl" "different transcript, ENST00000447510: 70: heterozygous" "Germline" "" "" "0" "" "" "g.16035733A>G" "" "likely pathogenic" "" "0000811964" "0" "70" "4" "16035036" "16035036" "subst" "2.03318E-5" "03840" "PROM1_000197" "g.16035036G>A" "" "{PMID:Wolock 2019:30926958}" "" "c.400C>T, r.(?)" "different transcript, ENST00000447510: 70: heterozygous" "Germline" "" "" "0" "" "" "g.16033413G>A" "" "likely pathogenic" "" "0000811967" "0" "70" "4" "16010716" "16010716" "subst" "0" "03840" "PROM1_000049" "g.16010716A>T" "" "{PMID:Wolock 2019:30926958}" "" "c.1157T>A, r.(?)" "different transcript, ENST00000447510: 70: heterozygous" "Germline" "" "" "0" "" "" "g.16009093A>T" "" "likely pathogenic" "" "0000811968" "0" "70" "4" "16002140" "16002140" "subst" "3.26763E-5" "03840" "PROM1_000041" "g.16002140G>T" "" "{PMID:Wolock 2019:30926958}" "" "c.1557C>A, r.(?)" "different transcript, ENST00000447510: 70: heterozygous" "Germline" "" "" "0" "" "" "g.16000517G>T" "" "likely pathogenic" "" "0000812042" "0" "70" "4" "16020079" "16020079" "del" "4.06693E-6" "00000" "PROM1_000202" "g.16020079del" "" "{PMID:Martin Merida 2019:30902645}" "" "PROM1 Ex.8 c.869del p.(Ser290Ilefs*2), Ex.11 c.1177_1178del p.(Ile393Argfs*21)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.16018456del" "" "likely pathogenic" "" "0000812043" "0" "70" "4" "16010697" "16010698" "del" "0" "00000" "PROM1_000125" "g.16010697_16010698del" "" "{PMID:Martin Merida 2019:30902645}" "" "PROM1 Ex.8 c.869del p.(Ser290Ilefs*2), Ex.11 c.1177_1178del p.(Ile393Argfs*21)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.16009074_16009075del" "" "likely pathogenic" "" "0000812071" "3" "70" "4" "16037356" "16037356" "subst" "0" "00000" "PROM1_000205" "g.16037356A>G" "" "{PMID:Martin Merida 2019:30902645}" "" "PROM1 IVS3 c.303+2T>C p.(?), IVS3 c.303+2T>C p.(?)" "homozygous" "Germline" "yes" "" "0" "" "" "g.16035733A>G" "" "likely pathogenic" "" "0000812221" "3" "70" "4" "16008180" "16008180" "subst" "0" "00000" "PROM1_000200" "g.16008180C>T" "" "{PMID:Martin Merida 2019:30902645}" "" "PROM1 Ex.12 c.1435G>A p.(Gly479Arg), Ex.12 c.1435G>A p.(Gly479Arg)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.16006557C>T" "" "likely pathogenic" "" "0000812232" "0" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Martin Merida 2019:30902645}" "" "PROM1 Ex.12 c.1354dup p.(Tyr452Leufs13*), Ex.12 c.1354dup p.(Tyr452Leufs13*), USH2A : Ex.13 c.2276G>T p.(Cys759Phe)" "homozygous" "Germline" "yes" "" "0" "" "" "g.16006643dup" "" "likely pathogenic" "" "0000812437" "3" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Martin Merida 2019:30902645}" "" "PROM1 Ex.12 c.1354dup p.(Tyr452Leufs13*), Ex.12 c.1354dup p.(Tyr452Leufs13*)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.16006643dup" "" "likely pathogenic" "" "0000812475" "3" "70" "4" "15982073" "15982073" "subst" "0" "00000" "PROM1_000164" "g.15982073G>A" "" "{PMID:Tayebi 2019:30820146}" "" "c.2461C>T, p.(Arg821*)" "Homozygous" "Germline" "yes" "" "0" "" "" "g.15980450G>A" "" "likely pathogenic" "" "0000812747" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Wang 2019:31106028}" "" "c.1090C>T, p.(Arg364Cys)" "different transcript: NM_001145847.1(PROM1):c.1090C>T, heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000812766" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Wang 2019:31106028}" "" "c.1090C>T, p.(Arg364Cys)" "different transcript: NM_001145847.1(PROM1):c.1090C>T, heterozygous" "Germline" "?" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000813188" "0" "70" "4" "16002165" "16002165" "subst" "0" "00000" "PROM1_000209" "g.16002165G>T" "0/200 controls" "{PMID:González-del Pozo-2011:22164218}" "" "c.1532C.A" "C not found at position 1744, found T instead." "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000813212" "0" "30" "4" "16077475" "16077475" "subst" "0.0147903" "00000" "PROM1_000177" "g.16077475A>C" "2/200 controls" "{PMID:González-del Pozo-2011:22164218}" "" "c.55T>G" "" "Germline" "no" "" "0" "" "" "" "" "likely benign" "" "0000813213" "0" "30" "4" "16002227" "16002227" "subst" "0" "00000" "PROM1_000210" "g.16002227G>A" "" "{PMID:González-del Pozo-2011:22164218}" "" "c.1470C>T" "C not found at position 1682, found T instead." "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000813214" "0" "30" "4" "15995641" "15995641" "subst" "0" "00000" "PROM1_000208" "g.15995641G>A" "" "{PMID:González-del Pozo-2011:22164218}" "" "c.1741-5C>T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000813215" "0" "30" "4" "15991396" "15991396" "subst" "0" "00000" "PROM1_000207" "g.15991396A>G" "" "{PMID:González-del Pozo-2011:22164218}" "" "c.2050-15T>C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000813216" "0" "30" "4" "15985915" "15985915" "subst" "0" "00000" "PROM1_000206" "g.15985915A>G" "" "{PMID:González-del Pozo-2011:22164218}" "" "c.2347-3T>C" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000813665" "0" "90" "4" "15995668" "15995668" "dup" "0" "00000" "PROM1_000040" "g.15995668dup" "" "{PMID:Xu 2020:31630094}" "" "PROM1 NM_006017: g.90335dupA, c.1709dupA, p.Y570X" "" "Unknown" "?" "" "0" "" "" "g.15994045dup" "" "pathogenic" "ACMG" "0000813899" "3" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Jiman 2020:31836858}" "" "PROM1;NM_006017.2;c.[1354dup];[1354dup];p.[(Tyr452Leufs*13)];[(Tyr452Leufs*13)]" "homozygous" "Unknown" "?" "" "0" "" "" "g.16006643dup" "" "likely pathogenic" "" "0000814603" "3" "70" "4" "15991448" "15991448" "subst" "0" "00000" "PROM1_000117" "g.15991448C>A" "" "{PMID:de Castro-Miró-2014:24516651}" "" "c.1984-1G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000815401" "3" "90" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "PROM1:NM_006017 c.1354dupT, p.T452Lfs*13" "homozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.16006643dup" "" "pathogenic" "ACMG" "0000815402" "3" "90" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "PROM1:NM_006017 c.1354dupT, p.T452Lfs*13" "homozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.16006643dup" "" "pathogenic" "ACMG" "0000815403" "3" "90" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "PROM1:NM_006017 c.1354dupT, p.T452Lfs*13" "homozygous, individual solved, variant causal" "Germline" "yes" "" "0" "" "" "g.16006643dup" "" "pathogenic" "ACMG" "0000815593" "0" "90" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "PROM1:NM_006017 c.1354dupT, p.T452Lfs*13" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.16006643dup" "" "pathogenic" "ACMG" "0000815620" "0" "50" "4" "15991411" "15991411" "subst" "0" "00000" "PROM1_000211" "g.15991411C>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "PROM1:NM_006017 c.G2020T, p.A674S" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.15989788C>A" "" "VUS" "ACMG" "0000816043" "0" "70" "4" "16000113" "16000113" "subst" "0" "00000" "PROM1_000212" "g.16000113T>A" "" "{PMID:Zampaglione 2020:32037395}" "" "PROM1 c.1579-2A>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.15998490T>A" "" "likely pathogenic" "" "0000816256" "0" "50" "4" "16002140" "16002140" "subst" "3.26763E-5" "00000" "PROM1_000041" "g.16002140G>T" "" "{PMID:Zampaglione 2020:32037395}" "" "PROM1 c.1557C>A, p.Tyr519Ter" "dominant RP, affected parent: 001-237, the LoF mutation is likely a recessive allele not dominant, based on the literature search. CNGB1 hom VUS also identified, unsolved" "Unknown" "?" "" "0" "" "" "g.16000517G>T" "" "VUS" "" "0000816279" "0" "50" "4" "16077311" "16077529" "dup" "0" "00000" "TRAPPC11_000000" "g.16077311_16077529dup" "" "{PMID:Zampaglione 2020:32037395}" "" "PROM1 chr4:16077311_16077529dup" "out of frame exon 1, unsolved" "Unknown" "?" "" "0" "" "" "" "" "VUS" "" "0000816378" "0" "50" "4" "16017789" "16017789" "subst" "0" "00000" "PROM1_000213" "g.16017789C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "c.1077G>A, p.Gln359=" "heterozygous" "Unknown" "?" "" "0" "" "" "g.16016166C>T" "" "VUS" "" "0000816759" "1" "70" "4" "16040622" "16040622" "subst" "0" "00000" "PROM1_000215" "g.16040622T>C" "" "{PMID:Jauregui 2020:32098976}" "" "PROM1 c.223A>G, p.T75A" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.16038999T>C" "" "likely pathogenic" "" "0000816845" "2" "70" "4" "16025015" "16025015" "subst" "0" "00000" "PROM1_000214" "g.16025015C>T" "" "{PMID:Jauregui 2020:32098976}" "" "PROM1 c.718G>A, p.G240R" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.16023392C>T" "" "likely pathogenic" "" "0000817492" "0" "50" "4" "16035060" "16035060" "subst" "0.000293174" "00000" "PROM1_000096" "g.16035060C>T" "" "{PMID:Matsui 2015:26393467}" "" "p.V126M" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000819050" "3" "90" "4" "16008203" "16008203" "del" "0" "00000" "PROM1_000201" "g.16008203del" "" "{PMID:Dineiro 2020:32483926}" "" "PROM1 c.1414delC, p.(Arg472Glufs*18)" "homozygous" "Germline" "?" "" "0" "" "" "g.16006580del" "" "pathogenic" "ACMG" "0000819880" "1" "70" "4" "15995606" "15995606" "subst" "0" "00000" "PROM1_000219" "g.15995606T>C" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.1767+4A>G/p.?, variant 2: c.1697del/p.N566Ifs*29" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.15993983T>C" "" "likely pathogenic" "" "0000819944" "1" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.1354dup/p.Y452Lfs*13, variant 2: c.1354dup/p.Y452Lfs*13" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.16006643dup" "" "likely pathogenic" "" "0000820026" "1" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.1117C>T/p.R373C" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000820123" "1" "70" "4" "16002140" "16002140" "subst" "3.26763E-5" "00000" "PROM1_000041" "g.16002140G>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.1557C>A/p.Y519*, variant 2: c.1578+1G>A/p.?" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.16000517G>T" "" "likely pathogenic" "" "0000820149" "1" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.1117C>T/p.R373C" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000820164" "1" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.1117C>T/p.R373C" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000820165" "1" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.1117C>T/p.R373C" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000820182" "1" "70" "4" "16010732" "16010732" "subst" "3.27394E-5" "00000" "PROM1_000105" "g.16010732C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.1142-1G>A/p.?, variant 2: c.1142-1G>A/p.?" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.16009109C>T" "" "likely pathogenic" "" "0000820186" "1" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.1117C>T/p.R373C" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000820330" "1" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.1117C>T/p.R373C" "solved, heterozygous" "Unknown" "?" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000820352" "1" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.1354dup/p.Y452Lfs*13, variant 2: c.2414dup/p.L805Ffs*13" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.16006643dup" "" "likely pathogenic" "" "0000820356" "1" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.1354dup/p.Y452Lfs*13, variant 2: c.642T>A/p.Y214*" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.16006643dup" "" "likely pathogenic" "" "0000820360" "1" "70" "4" "16010732" "16010732" "subst" "3.27394E-5" "00000" "PROM1_000105" "g.16010732C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.1142-1G>A/p.?, variant 2: c.1142-1G>A/p.?" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.16009109C>T" "" "likely pathogenic" "" "0000820361" "1" "70" "4" "16010732" "16010732" "subst" "3.27394E-5" "00000" "PROM1_000105" "g.16010732C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.1142-1G>A/p.?, variant 2: c.1142-1G>A/p.?" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.16009109C>T" "" "likely pathogenic" "" "0000820362" "1" "70" "4" "16010732" "16010732" "subst" "3.27394E-5" "00000" "PROM1_000105" "g.16010732C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.1142-1G>A/p.?, variant 2: c.1142-1G>A/p.?" "solved, homozygous" "Germline" "yes" "" "0" "" "" "g.16009109C>T" "" "likely pathogenic" "" "0000820366" "1" "70" "4" "16010732" "16010732" "subst" "3.27394E-5" "00000" "PROM1_000105" "g.16010732C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.1142-1G>A/p.?, variant 2: c.1142-1G>A/p.?" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.16009109C>T" "" "likely pathogenic" "" "0000820367" "1" "70" "4" "16010732" "16010732" "subst" "3.27394E-5" "00000" "PROM1_000105" "g.16010732C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.1142-1G>A/p.?, variant 2: c.1142-1G>A/p.?" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.16009109C>T" "" "likely pathogenic" "" "0000820379" "1" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.1117C>T/p.R373C" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000820380" "1" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.1117C>T/p.R373C" "solved, heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000820381" "1" "70" "4" "16000058" "16000058" "subst" "3.30767E-5" "00000" "PROM1_000152" "g.16000058C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.1632G>T/p.?, variant 2: c.1946C>T/p.S649L" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.15998435C>A" "" "likely pathogenic" "" "0000820382" "1" "70" "4" "16000058" "16000058" "subst" "3.30767E-5" "00000" "PROM1_000152" "g.16000058C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.1632G>T/p.?, variant 2: c.1946C>T/p.S649L" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.15998435C>A" "" "likely pathogenic" "" "0000820418" "1" "70" "4" "15991381" "15991381" "subst" "4.17728E-6" "00000" "PROM1_000132" "g.15991381G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1 / RHO, variant 1: c.2050C>T/p.R684* c.1025C>T/p.T342M, variant 2: c.2050C>T/p.R684* -" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.15989758G>A" "" "likely pathogenic" "" "0000820419" "1" "70" "4" "15987579" "15987579" "subst" "0" "00000" "PROM1_000218" "g.15987579C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.2211+1G>A/p.?, variant 2: c.1301+2T>C/p.?" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.15985956C>T" "" "likely pathogenic" "" "0000820420" "1" "70" "4" "15987579" "15987579" "subst" "0" "00000" "PROM1_000218" "g.15987579C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.2211+1G>A/p.?, variant 2: c.1301+2T>C/p.?" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.15985956C>T" "" "likely pathogenic" "" "0000820429" "1" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.1354dup/p.Y452Lfs*13, variant 2: c.1354dup/p.Y452Lfs*13" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.16006643dup" "" "likely pathogenic" "" "0000820550" "1" "70" "4" "15982124" "15982124" "dup" "0" "00000" "PROM1_000217" "g.15982124dup" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.2414dup/p.L805Ffs*13, variant 2: c.2414dup/p.L805Ffs*13" "solved, homozygous" "Unknown" "?" "" "0" "" "" "g.15980501dup" "" "likely pathogenic" "" "0000820747" "1" "70" "4" "15995687" "15995687" "del" "0" "00000" "PROM1_000151" "g.15995687del" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.1767+4A>G/p.?, variant 2: c.1697del/p.N566Ifs*29" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.15994064del" "" "likely pathogenic" "" "0000820818" "1" "70" "4" "16002118" "16002118" "subst" "0" "00000" "PROM1_000065" "g.16002118C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.1557C>A/p.Y519*, variant 2: c.1578+1G>A/p.?" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.16000495C>T" "" "likely pathogenic" "" "0000820878" "1" "70" "4" "15982124" "15982124" "dup" "0" "00000" "PROM1_000217" "g.15982124dup" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.1354dup/p.Y452Lfs*13, variant 2: c.2414dup/p.L805Ffs*13" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.15980501dup" "" "likely pathogenic" "" "0000820882" "1" "70" "4" "16025970" "16025970" "subst" "1.23954E-5" "00000" "PROM1_000188" "g.16025970A>T" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.1354dup/p.Y452Lfs*13, variant 2: c.642T>A/p.Y214*" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.16024347A>T" "" "likely pathogenic" "" "0000820887" "1" "70" "4" "15992882" "15992882" "subst" "2.51029E-5" "00000" "PROM1_000144" "g.15992882G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.1632G>T/p.?, variant 2: c.1946C>T/p.S649L" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.15991259G>A" "" "likely pathogenic" "" "0000820888" "1" "70" "4" "15992882" "15992882" "subst" "2.51029E-5" "00000" "PROM1_000144" "g.15992882G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.1632G>T/p.?, variant 2: c.1946C>T/p.S649L" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.15991259G>A" "" "likely pathogenic" "" "0000820908" "1" "70" "4" "16010570" "16010570" "subst" "3.30128E-5" "00000" "PROM1_000220" "g.16010570A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.2211+1G>A/p.?, variant 2: c.1301+2T>C/p.?" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.16008947A>G" "" "likely pathogenic" "" "0000820909" "1" "70" "4" "16010570" "16010570" "subst" "3.30128E-5" "00000" "PROM1_000220" "g.16010570A>G" "" "{PMID:Weisschuh 2020:32531858}" "" "PROM1, variant 1: c.2211+1G>A/p.?, variant 2: c.1301+2T>C/p.?" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.16008947A>G" "" "likely pathogenic" "" "0000820995" "0" "70" "4" "16014922" "16014922" "subst" "0" "03840" "PROM1_000003" "g.16014922G>A" "" "{PMID:Hu 2020:32534057}" "" "PROM1 c.1117C > T , p.(Arg373Cys)" "" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic (dominant)" "" "0000821334" "0" "70" "4" "16010697" "16010698" "del" "0" "00000" "PROM1_000125" "g.16010697_16010698del" "" "{PMID:Turro 2020:32581362}" "" "PROM1 c.1177_1178delAT, p.Ile393ArgfsTer21" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.16009074_16009075del" "" "likely pathogenic" "" "0000821335" "3" "70" "4" "16000112" "16000112" "subst" "3.4539E-5" "00000" "PROM1_000118" "g.16000112C>G" "" "{PMID:Turro 2020:32581362}" "" "PROM1 c.1579-1G>C," "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.15998489C>G" "" "likely pathogenic" "" "0000821336" "0" "70" "4" "15995667" "15995667" "subst" "4.06494E-6" "00000" "PROM1_000123" "g.15995667G>T" "" "{PMID:Turro 2020:32581362}" "" "PROM1 c.1710C>A, p.Tyr570Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.15994044G>T" "" "likely pathogenic" "" "0000821337" "0" "70" "4" "16019941" "16019941" "subst" "4.06987E-6" "00000" "PROM1_000126" "g.16019941C>T" "" "{PMID:Turro 2020:32581362}" "" "PROM1 c.1002+5G>A," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.16018318C>T" "" "likely pathogenic" "" "0000821338" "0" "90" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Turro 2020:32581362}" "" "PROM1 c.1354dupT, p.Tyr452LeufsTer13" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.16006643dup" "" "pathogenic" "" "0000821339" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Turro 2020:32581362}" "" "PROM1 c.1117C>T, p.Arg373Cys" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000821593" "0" "90" "4" "16025003" "16025003" "subst" "1.69052E-5" "00000" "PROM1_000008" "g.16025003G>A" "" "{PMID:Turro 2020:32581362}" "" "PROM1 c.730C>T, p.Arg244Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.16023380G>A" "" "pathogenic" "" "0000821594" "0" "90" "4" "15995651" "15995651" "subst" "4.06468E-6" "00000" "PROM1_000002" "g.15995651G>A" "" "{PMID:Turro 2020:32581362}" "" "PROM1 c.1726C>T, p.Gln576Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.15994028G>A" "" "pathogenic" "" "0000821595" "0" "90" "4" "16002140" "16002140" "subst" "3.26763E-5" "00000" "PROM1_000041" "g.16002140G>T" "" "{PMID:Turro 2020:32581362}" "" "PROM1 c.1557C>A, p.Tyr519Ter" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.16000517G>T" "" "pathogenic" "" "0000821596" "0" "90" "4" "16000112" "16000112" "subst" "3.4539E-5" "00000" "PROM1_000118" "g.16000112C>G" "" "{PMID:Turro 2020:32581362}" "" "PROM1 c.1579-1G>C," "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.15998489C>G" "" "pathogenic" "" "0000822257" "0" "70" "4" "16035056" "16035056" "subst" "0" "00000" "PROM1_000157" "g.16035056C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.380G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822258" "0" "70" "4" "16035056" "16035056" "subst" "0" "00000" "PROM1_000157" "g.16035056C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.380G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822348" "1" "70" "4" "16010732" "16010732" "subst" "3.27394E-5" "00000" "PROM1_000105" "g.16010732C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.1142-1G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000822349" "1" "70" "4" "16010732" "16010732" "subst" "3.27394E-5" "00000" "PROM1_000105" "g.16010732C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.1142-1G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000822377" "0" "70" "4" "15982058" "15982058" "subst" "0" "00000" "PROM1_000216" "g.15982058C>G" "" "{PMID:Maggi_2021:33546218}" "" "c.2476G>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822378" "0" "70" "4" "15982058" "15982058" "subst" "0" "00000" "PROM1_000216" "g.15982058C>G" "" "{PMID:Maggi_2021:33546218}" "" "c.2476G>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822448" "1" "70" "4" "16010732" "16010732" "subst" "3.27394E-5" "00000" "PROM1_000105" "g.16010732C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.1142-1G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000822449" "1" "70" "4" "16010732" "16010732" "subst" "3.27394E-5" "00000" "PROM1_000105" "g.16010732C>T" "" "{PMID:Maggi_2021:33546218}" "" "c.1142-1G>A" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000822713" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Gliem 2020:32646556}" "" "PROM1 c.1117>T, p.Arg373Cys" "error in annotation, reference nucleotide was missing, heterozygous" "Unknown" "?" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000822714" "0" "70" "4" "16035000" "16035000" "subst" "1.2192E-5" "00000" "PROM1_000127" "g.16035000G>A" "" "{PMID:Gliem 2020:32646556}" "" "PROM1 c.436C>T c.1354dup, p.Arg146* p.Tyr452Leufs*13" "heterozygous" "Unknown" "?" "" "0" "" "" "g.16033377G>A" "" "likely pathogenic" "" "0000822715" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Gliem 2020:32646556}" "" "PROM1 c.1117>T, p.Arg373Cys" "error in annotation, reference nucleotide was missing, heterozygous" "Unknown" "?" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000822753" "0" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Gliem 2020:32646556}" "" "PROM1 c.436C>T c.1354dup, p.Arg146* p.Tyr452Leufs*13" "heterozygous" "Unknown" "?" "" "0" "" "" "g.16006643dup" "" "likely pathogenic" "" "0000822950" "3" "70" "4" "16002140" "16002140" "subst" "0" "00000" "PROM1_000221" "g.16002140G>C" "" "{PMID:Méjécase 2020:32783370}" "" "PROM1 c.1557C >G p.(Tyr519*)" "homozygous" "Unknown" "?" "" "0" "" "" "g.16000517G>C" "" "likely pathogenic" "" "0000823241" "0" "50" "4" "16010661" "16010662" "del" "0" "00000" "PROM1_000222" "g.16010661_16010662del" "" "{PMID:Hull 2020:32856788}" "" "PROM1 nucleotide 1, protein 1:c.1214_1215delTA, p.Ile405Thrfs*9 nucleotide 2, protein 2:c.1354dupT, p.Tyr452Leufs*13" "heterozygous, ACMG unclassified - no access to supplementary table 2" "Germline" "?" "" "0" "" "" "g.16009038_16009039del" "" "VUS" "" "0000823242" "3" "50" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Hull 2020:32856788}" "" "PROM1 nucleotide 1, protein 1:c.1354dupT, p.Tyr452Leufs*13" "homozygous, ACMG unclassified - no access to supplementary table 2" "Germline" "?" "" "0" "" "" "g.16006643dup" "" "VUS" "" "0000823281" "0" "50" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Hull 2020:32856788}" "" "PROM1 nucleotide 1, protein 1:c.1214_1215delTA, p.Ile405Thrfs*9 nucleotide 2, protein 2:c.1354dupT, p.Tyr452Leufs*13" "heterozygous, ACMG unclassified - no access to supplementary table 2" "Germline" "?" "" "0" "" "" "g.16006643dup" "" "VUS" "" "0000825491" "0" "50" "4" "16010677" "16010677" "subst" "0.000288921" "00000" "PROM1_000028" "g.16010677C>T" "" "{PMID:Ng 2021:33846575}" "" "PROM1 c.1196G>A, p.R399H" "no pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.16009054C>T" "" "VUS" "" "0000825520" "0" "50" "4" "16020091" "16020091" "subst" "1.62812E-5" "00000" "PROM1_000225" "g.16020091T>C" "" "{PMID:Ng 2021:33846575}" "" "PROM1 c.857A>G, p.Q286R" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.16018468T>C" "" "VUS" "" "0000825521" "0" "50" "4" "16020080" "16020080" "subst" "0.00267201" "00000" "PROM1_000072" "g.16020080T>G" "" "{PMID:Ng 2021:33846575}" "" "PROM1 c.868A>C, p.S290R" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.16018457T>G" "" "VUS" "" "0000825573" "0" "50" "4" "16002177" "16002177" "subst" "0" "00000" "PROM1_000224" "g.16002177A>T" "" "{PMID:Ng 2021:33846575}" "" "PROM1 c.1520T>A, p.F507Y" "no pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.16000554A>T" "" "VUS" "" "0000826129" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Liu-2020:33090715}" "" "c.1117C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000826189" "0" "70" "4" "16077391" "16077391" "del" "2.84648E-5" "00000" "PROM1_000148" "g.16077391del" "" "{PMID:Liu-2020:33090715}" "" "c.139delC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826190" "0" "70" "4" "16010635" "16010635" "subst" "2.04422E-5" "00000" "PROM1_000166" "g.16010635A>T" "" "{PMID:Liu-2020:33090715}" "" "c.1238T>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826341" "0" "70" "4" "16077391" "16077391" "del" "2.84648E-5" "00000" "PROM1_000148" "g.16077391del" "" "{PMID:Liu-2020:33090715}" "" "c.139delC" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826342" "0" "70" "4" "15981017" "15995695" "dup" "0" "00000" "PROM1_000223" "g.15981017_15995695dup" "" "{PMID:Liu-2020:33090715}" "" "E15-25dup" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000828750" "1" "50" "4" "16025991" "16025996" "del" "0" "00000" "PROM1_000226" "g.16025991_16025996del" "" "{PMID:Chen 2021:43360855}" "" "PROM1 c.[139del];[631-15_631-10del], V1: c.631-15_631-10delATGTTC," "alleles in trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.16024368_16024373del" "" "VUS" "ACMG" "0000828761" "1" "90" "4" "16077393" "16077393" "del" "0" "00000" "PROM1_000148" "g.16077393del" "" "{PMID:Chen 2021:43360855}" "" "PROM1 c.[139del];[242dupA], V1: c.139delC, (p.His47IlefsTer12)" "alleles in trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.16075770del" "" "pathogenic" "ACMG" "0000828890" "0" "70" "4" "16037358" "16037358" "subst" "0" "00000" "PROM1_000227" "g.16037358C>G" "" "{PMID:Chen 2021:43360855}" "" "PROM1 c.[303G>C];[303=], V1: c.303G>C, (p.Lys101Asn)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.16035735C>G" "" "likely pathogenic" "ACMG" "0000828891" "0" "50" "4" "16077331" "16077331" "subst" "2.04102E-5" "00000" "PROM1_000229" "g.16077331G>C" "" "{PMID:Chen 2021:43360855}" "" "PROM1 c.[199C>G];[199=], V1: c.199C>G, (p.Gln67Glu)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.16075708G>C" "" "VUS" "ACMG" "0000828925" "0" "90" "4" "16077393" "16077393" "del" "0" "00000" "PROM1_000148" "g.16077393del" "" "{PMID:Chen 2021:43360855}" "" "PROM1 c.[139del];[139=], V1: c.139delC, (p.His47IlefsTer12)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.16075770del" "" "pathogenic" "ACMG" "0000828955" "2" "90" "4" "16077393" "16077393" "del" "0" "00000" "PROM1_000148" "g.16077393del" "" "{PMID:Chen 2021:43360855}" "" "PROM1 c.[139del];[631-15_631-10del], V2: c.139delC, (p.His47IlefsTer12)" "alleles in trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.16075770del" "" "pathogenic" "ACMG" "0000828966" "2" "90" "4" "16040603" "16040603" "dup" "0" "00000" "PROM1_000228" "g.16040603dup" "" "{PMID:Chen 2021:43360855}" "" "PROM1 c.[139del];[242dupA], V2: c.242dupA, (p.Lys82GlufsTer4)" "alleles in trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.16038980dup" "" "pathogenic" "ACMG" "0000829713" "3" "90" "4" "15995651" "15995651" "subst" "4.06468E-6" "00006" "PROM1_000002" "g.15995651G>A" "" "{PMID:Ellingford 2016:26872967}" "" "" "" "Germline" "" "" "0" "" "" "g.15994028G>A" "" "pathogenic" "" "0000829767" "1" "70" "4" "15993870" "16000112" "del" "0" "00006" "PROM1_000230" "g.(15992917_15993870)_(16000112_16002118)del" "" "{PMID:Ellingford 2017:28378820}" "" "g.15993820_16000161del" "" "Germline" "" "" "0" "" "" "g.(15991294_15992247)_(15998489_16000495)del" "" "likely pathogenic" "" "0000844295" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Kohl 2012:22183351}" "" "PROM1 c.1117C>T, p.Arg373Cys" "heterozygous" "Unknown" "?" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic (dominant)" "" "0000845511" "0" "50" "4" "16077475" "16077475" "subst" "0" "00000" "PROM1_000231" "g.16077475A>T" "Novel" "{PMID:Borràs 2013:23534816}" "" "c.55T>A" "" "Germline" "no" "" "0" "" "" "" "" "VUS" "" "0000846852" "0" "90" "4" "16008261" "16008261" "dup" "0" "03468" "PROM1_000004" "g.16008261dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000846853" "0" "90" "4" "15991448" "15991448" "subst" "0" "03468" "PROM1_000117" "g.15991448C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000850561" "0" "50" "4" "15981054" "15981054" "subst" "4.07664E-6" "02330" "PROM1_000232" "g.15981054T>A" "" "" "" "PROM1(NM_006017.3):c.2546A>T (p.D849V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850562" "0" "90" "4" "15995678" "15995678" "dup" "0" "01943" "PROM1_000236" "g.15995678dup" "" "" "" "PROM1(NM_001145847.1):c.1672dupA (p.R558Kfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000850563" "0" "50" "4" "15995680" "15995680" "subst" "2.1328E-5" "02330" "PROM1_000237" "g.15995680T>A" "" "" "" "PROM1(NM_006017.3):c.1697A>T (p.N566I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850564" "0" "90" "4" "16008201" "16008201" "subst" "0" "02330" "PROM1_000102" "g.16008201G>A" "" "" "" "PROM1(NM_006017.3):c.1414C>T (p.R472*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000850565" "0" "70" "4" "16010570" "16010570" "subst" "3.30128E-5" "02330" "PROM1_000220" "g.16010570A>G" "" "" "" "PROM1(NM_006017.3):c.1301+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000859276" "0" "70" "4" "15985885" "15985885" "subst" "0" "01943" "PROM1_000233" "g.15985885C>T" "" "" "" "PROM1(NM_001145847.1):c.2346+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000859277" "0" "50" "4" "15995604" "15995604" "subst" "0" "01943" "PROM1_000234" "g.15995604A>C" "" "" "" "PROM1(NM_001145847.1):c.1740+6T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859278" "0" "30" "4" "15995605" "15995605" "subst" "0" "01943" "PROM1_000235" "g.15995605A>C" "" "" "" "PROM1(NM_001145847.1):c.1740+5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859279" "0" "30" "4" "16008295" "16008295" "subst" "8.19357E-6" "01943" "PROM1_000238" "g.16008295G>A" "" "" "" "PROM1(NM_001145847.1):c.1293C>T (p.V431=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859280" "0" "90" "4" "16008313" "16008313" "subst" "0" "02330" "PROM1_000026" "g.16008313C>T" "" "" "" "PROM1(NM_001145847.1):c.1275G>A (p.W425*), PROM1(NM_006017.3):c.1302G>A (p.W434*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000859281" "0" "30" "4" "16024971" "16024971" "subst" "0" "01943" "PROM1_000239" "g.16024971A>C" "" "" "" "PROM1(NM_001145847.1):c.735T>G (p.D245E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859282" "0" "50" "4" "16034982" "16034982" "subst" "4.06379E-6" "02330" "PROM1_000240" "g.16034982G>A" "" "" "" "PROM1(NM_006017.3):c.454C>T (p.P152S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859283" "0" "30" "4" "16077378" "16077378" "subst" "8.13392E-6" "01943" "PROM1_000241" "g.16077378G>A" "" "" "" "PROM1(NM_001145847.1):c.152C>T (p.P51L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000868801" "3" "70" "4" "16020079" "16020079" "del" "4.06693E-6" "00000" "PROM1_000202" "g.16020079del" "" "{PMID:Permanyer 2010:20042663}" "" "PROM1 c.869delG" "homozygous" "Germline" "yes" "" "0" "" "" "g.16018456del" "" "likely pathogenic (recessive)" "" "0000868802" "3" "70" "4" "16020079" "16020079" "del" "4.06693E-6" "00000" "PROM1_000202" "g.16020079del" "" "{PMID:Permanyer 2010:20042663}" "" "PROM1 c.869delG" "homozygous" "Germline" "yes" "" "0" "" "" "g.16018456del" "" "likely pathogenic (recessive)" "" "0000868803" "3" "70" "4" "16020079" "16020079" "del" "4.06693E-6" "00000" "PROM1_000202" "g.16020079del" "" "{PMID:Permanyer 2010:20042663}" "" "PROM1 c.869delG" "homozygous" "Germline" "yes" "" "0" "" "" "g.16018456del" "" "likely pathogenic (recessive)" "" "0000868840" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Michaelides 2010:20393116}" "" "PROM1 R373C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic (dominant)" "" "0000868841" "21" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Michaelides 2010:20393116}" "" "PROM1 R373C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic (dominant)" "" "0000868842" "21" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Michaelides 2010:20393116}" "" "PROM1 R373C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic (dominant)" "" "0000868843" "21" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Michaelides 2010:20393116}" "" "PROM1 R373C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic (dominant)" "" "0000868844" "21" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Michaelides 2010:20393116}" "" "PROM1 R373C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic (dominant)" "" "0000868845" "21" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Michaelides 2010:20393116}" "" "PROM1 R373C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic (dominant)" "" "0000868846" "10" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Michaelides 2010:20393116}" "" "PROM1 R373C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic (dominant)" "" "0000868847" "21" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Michaelides 2010:20393116}" "" "PROM1 R373C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic (dominant)" "" "0000868848" "10" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Michaelides 2010:20393116}" "" "PROM1 R373C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic (dominant)" "" "0000868849" "10" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Michaelides 2010:20393116}" "" "PROM1 R373C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic (dominant)" "" "0000868856" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Arrigoni 2011:20859302}" "" "PROM1 R373C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic (dominant)" "" "0000868857" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Arrigoni 2011:20859302}" "" "PROM1 R373C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic (dominant)" "" "0000868858" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Arrigoni 2011:20859302}" "" "PROM1 R373C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic (dominant)" "" "0000868859" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Arrigoni 2011:20859302}" "" "PROM1 R373C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic (dominant)" "" "0000868860" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Arrigoni 2011:20859302}" "" "PROM1 R373C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic (dominant)" "" "0000868861" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Arrigoni 2011:20859302}" "" "PROM1 R373C" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic (dominant)" "" "0000868862" "3" "70" "4" "15995687" "15995687" "dup" "0" "00000" "PROM1_000178" "g.15995687dup" "" "{PMID:Khan 2015:24547909}" "" "PROM1 c.1697dupA; p.Asn566Lysfs*2" "homozygous" "Germline" "yes" "" "0" "" "" "g.15994064dup" "" "likely pathogenic (recessive)" "" "0000868863" "0" "90" "4" "15989860" "15989860" "dup" "0" "00000" "PROM1_000178" "g.15989860T>C" "" "{PMID:Mayer 2016:26153215}" "" "PROM1 c.2077-521A>G" "155-bp cryptic exon spliced between exons 18 and 19; homozygous" "Germline" "yes" "" "0" "" "" "g.15988237T>C" "" "pathogenic (recessive)" "" "0000868864" "0" "90" "4" "15989860" "15989860" "dup" "0" "00000" "PROM1_000178" "g.15989860T>C" "" "{PMID:Mayer 2016:26153215}" "" "PROM1 c.2077-521A>G" "155-bp cryptic exon spliced between exons 18 and 19; homozygous" "Germline" "yes" "" "0" "" "" "g.15988237T>C" "" "pathogenic (recessive)" "" "0000868865" "0" "70" "4" "16008171" "16008171" "dup" "0" "00000" "PROM1_000247" "g.16008171dup" "" "{PMID:Liu 2016:27082927}" "" "PROM1 c.1445dupT (p.F482fs)" "error in protein annotation: first affected amino acid rule shifts it to p.(L483Pfs*35); homozygous" "Germline" "yes" "" "0" "" "" "g.16006548dup" "" "likely pathogenic (recessive)" "" "0000868866" "0" "70" "4" "16008171" "16008171" "dup" "0" "00000" "PROM1_000247" "g.16008171dup" "" "{PMID:Liu 2016:27082927}" "" "PROM1 c.1445dupT (p.F482fs)" "error in protein annotation: first affected amino acid rule shifts it to p.(L483Pfs*35); homozygous" "Germline" "yes" "" "0" "" "" "g.16006548dup" "" "likely pathogenic (recessive)" "" "0000868869" "3" "70" "4" "15985995" "15986004" "del" "0" "00000" "PROM1_000116" "g.15985995_15986004del" "" "{PMID:Eidinger 2015:26702251}" "" "PROM1 c.2281-26_-17del,c.2281-6C>G" "3\' rule shifts it to c.2281-20_2281-11del; exon 22 skipped; homozygous" "Germline" "yes" "" "0" "" "" "g.15984372_15984381del" "" "likely pathogenic (recessive)" "" "0000868870" "3" "70" "4" "15985995" "15986004" "del" "0" "00000" "PROM1_000116" "g.15985995_15986004del" "" "{PMID:Eidinger 2015:26702251}" "" "PROM1 c.2281-26_-17del,c.2281-6C>G" "3\' rule shifts it to c.2281-20_2281-11del; exon 22 skipped; homozygous" "Germline" "yes" "" "0" "" "" "g.15984372_15984381del" "" "likely pathogenic (recessive)" "" "0000868871" "3" "70" "4" "15985995" "15986004" "del" "0" "00000" "PROM1_000116" "g.15985995_15986004del" "" "{PMID:Eidinger 2015:26702251}" "" "PROM1 c.2281-26_-17del,c.2281-6C>G" "3\' rule shifts it to c.2281-20_2281-11del; exon 22 skipped; homozygous" "Germline" "yes" "" "0" "" "" "g.15984372_15984381del" "" "likely pathogenic (recessive)" "" "0000868872" "0" "70" "4" "15992868" "15992868" "subst" "8.34481E-6" "00000" "PROM1_000109" "g.15992868G>C" "" "{PMID:Randhawa 2017:27571428}" "" "PROM1 P.Leu654Val:c.1960C>G" "" "Unknown" "?" "" "0" "" "" "g.15991245G>C" "" "likely pathogenic (recessive)" "" "0000868873" "3" "70" "4" "15985932" "15985932" "subst" "0" "00000" "PROM1_000242" "g.15985932T>A" "" "{PMID:Vallim-Salles 2017:28095140}" "" "PROM1 c.2327A>T, p.Asp776Val" "homozygous" "Unknown" "?" "" "0" "" "" "g.15984309T>A" "" "likely pathogenic (recessive)" "" "0000868874" "0" "70" "4" "15982049" "15982049" "subst" "7.1449E-5" "00000" "PROM1_000052" "g.15982049C>T" "" "{PMID:Vallim-Salles 2017:28095140}" "" "PROM1 c.2485G>A, p.Asp829Asn" "heterozygous" "Unknown" "?" "rs146434364" "0" "" "" "g.15980426C>T" "" "likely pathogenic (recessive)" "" "0000868875" "0" "70" "4" "15992900" "15992900" "subst" "0.000474608" "00000" "PROM1_000243" "g.15992900G>C" "" "{PMID:Vallim-Salles 2017:28095140}" "" "PROM1 c.1928C>G, p.Ala643Gly" "heterozygous" "Unknown" "?" "rs62617075" "0" "" "" "g.15991277G>C" "" "likely pathogenic (recessive)" "" "0000868877" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Kim 2017:28840994}" "" "PROM1 p.R373C" "heterozygous" "Germline" "?" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic (dominant)" "" "0000868953" "0" "70" "4" "16024999" "16024999" "subst" "0" "00000" "PROM1_000251" "g.16024999A>G" "" "{PMID:Imani 2018:29416601}" "" "PROM1 c.734 T>C, p.L245P" "heterozygous" "Germline" "?" "" "0" "" "" "g.16023376A>G" "" "likely pathogenic (dominant)" "" "0000868954" "0" "70" "4" "16024999" "16024999" "subst" "0" "00000" "PROM1_000251" "g.16024999A>G" "" "{PMID:Imani 2018:29416601}" "" "PROM1 c.734 T>C, p.L245P" "heterozygous" "Germline" "?" "" "0" "" "" "g.16023376A>G" "" "likely pathogenic (dominant)" "" "0000868955" "0" "70" "4" "16024999" "16024999" "subst" "0" "00000" "PROM1_000251" "g.16024999A>G" "" "{PMID:Imani 2018:29416601}" "" "PROM1 c.734 T>C, p.L245P" "heterozygous" "Germline" "?" "" "0" "" "" "g.16023376A>G" "" "likely pathogenic (dominant)" "" "0000868956" "0" "70" "4" "16024999" "16024999" "subst" "0" "00000" "PROM1_000251" "g.16024999A>G" "" "{PMID:Imani 2018:29416601}" "" "PROM1 c.734 T>C, p.L245P" "heterozygous" "Germline" "?" "" "0" "" "" "g.16023376A>G" "" "likely pathogenic (dominant)" "" "0000868957" "0" "70" "4" "16024999" "16024999" "subst" "0" "00000" "PROM1_000251" "g.16024999A>G" "" "{PMID:Imani 2018:29416601}" "" "PROM1 c.734 T>C, p.L245P" "heterozygous" "Germline" "?" "" "0" "" "" "g.16023376A>G" "" "likely pathogenic (dominant)" "" "0000868958" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Strauss 2018:30110705}" "" "PROM1 c.1117C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000868959" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Strauss 2018:30110705}" "" "PROM1 c.1117C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000868960" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Strauss 2018:30110705}" "" "PROM1 c.1117C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000868961" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Strauss 2018:30110705}" "" "PROM1 c.1117C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000868962" "0" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Strauss 2018:30110705}" "" "PROM1 c.1354_1355 ins T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.16006643dup" "" "likely pathogenic" "" "0000868963" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Strauss 2018:30110705}" "" "PROM1 c.1117C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000868964" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Strauss 2018:30110705}" "" "PROM1 c.1117C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000868965" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Strauss 2018:30110705}" "" "PROM1 c.1117C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000868966" "0" "70" "4" "15995687" "15995687" "del" "0" "00000" "PROM1_000151" "g.15995687del" "" "{PMID:Strauss 2018:30110705}" "" "PROM1 c.1697delA" "heterozygous" "Unknown" "?" "" "0" "" "" "g.15994064del" "" "likely pathogenic" "" "0000868967" "0" "70" "4" "16019985" "16019985" "subst" "0.000463467" "00000" "PROM1_000032" "g.16019985C>A" "" "{PMID:Strauss 2018:30110705}" "" "PROM1 c.963G>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.16018362C>A" "" "likely pathogenic" "" "0000868968" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Strauss 2018:30110705}" "" "PROM1 c.1117C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000868969" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Strauss 2018:30110705}" "" "PROM1 c.1117C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000868970" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Strauss 2018:30110705}" "" "PROM1 c.1117C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000868971" "0" "70" "4" "16035000" "16035000" "subst" "1.2192E-5" "00000" "PROM1_000127" "g.16035000G>A" "" "{PMID:Strauss 2018:30110705}" "" "PROM1 c.436>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.16033377G>A" "" "likely pathogenic" "" "0000868972" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Strauss 2018:30110705}" "" "PROM1 c.1117C>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic" "" "0000868973" "0" "70" "4" "16026807" "16026815" "delins" "0" "00000" "PROM1_000252" "g.16026807_16026815delins13" "" "{PMID:Strauss 2018:30110705}" "" "PROM1 c.630_c.630+8 del 9 ins 13" "error in annotation, inserted nucleotides not mentioned; heterozygous" "Unknown" "?" "" "0" "" "" "g.16025184_16025192delins13" "" "likely pathogenic" "" "0000868974" "0" "70" "4" "15995606" "15995606" "subst" "0" "00000" "PROM1_000219" "g.15995606T>C" "" "{PMID:Strauss 2018:30110705}" "" "PROM1 c.1767+4A>G" "heterozygous" "Unknown" "?" "" "0" "" "" "g.15993983T>C" "" "likely pathogenic" "" "0000868975" "0" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Strauss 2018:30110705}" "" "PROM1 c.1354dupT" "heterozygous" "Unknown" "?" "" "0" "" "" "g.16006643dup" "" "likely pathogenic" "" "0000868980" "0" "70" "4" "15993880" "15993880" "subst" "0" "00000" "PROM1_000244" "g.15993880G>C" "" "{PMID:Liang 2019:30588538}" "" "PROM1 c.C1902G(p.Y634X)" "truncated, labile, and mislocalized protein; heterozygous" "Germline" "yes" "" "0" "" "" "g.15992257G>C" "" "likely pathogenic" "" "0000868981" "0" "70" "4" "16000005" "16000005" "subst" "4.59622E-6" "00000" "PROM1_000246" "g.16000005T>C" "" "{PMID:Liang 2019:30588538}" "" "PROM1 c.C1682+3A>G" "disrupts messenger RNA splicing, intron 14 retention; heterozygous" "Germline" "yes" "" "0" "" "" "g.15998382T>C" "" "likely pathogenic" "" "0000868982" "0" "70" "4" "15993880" "15993880" "subst" "0" "00000" "PROM1_000244" "g.15993880G>C" "" "{PMID:Liang 2019:30588538}" "" "PROM1 c.C1902G(p.Y634X)" "truncated, labile, and mislocalized protein; heterozygous" "Germline" "yes" "" "0" "" "" "g.15992257G>C" "" "likely pathogenic" "" "0000868983" "0" "70" "4" "16000005" "16000005" "subst" "4.59622E-6" "00000" "PROM1_000246" "g.16000005T>C" "" "{PMID:Liang 2019:30588538}" "" "PROM1 c.C1682+3A>G" "disrupts messenger RNA splicing, intron 14 retention; heterozygous" "Germline" "yes" "" "0" "" "" "g.15998382T>C" "" "likely pathogenic" "" "0000868984" "0" "70" "4" "16010716" "16010716" "subst" "0" "00000" "PROM1_000049" "g.16010716A>T" "" "{PMID:Collison 2019:31136651}" "" "PROM1 c.1157T>A p.Leu386*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16009093A>T" "" "likely pathogenic" "" "0000868985" "0" "70" "4" "16010671" "16010691" "del" "0" "00000" "PROM1_000249" "g.16010671_16010691del" "" "{PMID:Collison 2019:31136651}" "" "PROM1 c.1182_1202del p.Asn395_Pro401del" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16009048_16009068del" "" "likely pathogenic" "" "0000868986" "0" "70" "4" "16010671" "16010691" "del" "0" "00000" "PROM1_000249" "g.16010671_16010691del" "" "{PMID:Collison 2019:31136651}" "" "PROM1 c.1182_1202del p.Asn395_Pro401del" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16009048_16009068del" "" "likely pathogenic" "" "0000868987" "0" "70" "4" "16010597" "16010597" "subst" "0" "00000" "PROM1_000248" "g.16010597T>G" "" "{PMID:Collison 2019:31136651}" "" "PROM1 c.1274+2T>C affects splicing" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16008974T>G" "" "likely pathogenic" "" "0000868988" "0" "70" "4" "16002140" "16002140" "subst" "3.26763E-5" "00000" "PROM1_000041" "g.16002140G>T" "" "{PMID:Collison 2019:31136651}" "" "PROM1 c.1557C>A p.Tyr519*" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16000517G>T" "" "likely pathogenic" "" "0000868989" "0" "70" "4" "16017462" "16024802" "del" "0" "00000" "PROM1_000250" "g.16017462_16024802del" "" "{PMID:Collison 2019:31136651}" "" "PROM1 chr4:16017462_16024802del (7340 bp del, including 2 exons) del of 2 exons" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16015839_16023179del" "" "likely pathogenic" "" "0000868990" "0" "70" "4" "16017462" "16024802" "del" "0" "00000" "PROM1_000250" "g.16017462_16024802del" "" "{PMID:Collison 2019:31136651}" "" "PROM1 chr4:16017462_16024802del (7340 bp del, including 2 exons) del of 2 exons" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16015839_16023179del" "" "likely pathogenic" "" "0000868991" "0" "70" "4" "15989860" "15989860" "subst" "0" "00000" "PROM1_000021" "g.15989860T>C" "" "{PMID:Collison 2019:31136651}" "" "PROM1 c.2077-521A>G affects splicing" "heterozygous" "Germline" "yes" "" "0" "" "" "g.15988237T>C" "" "likely pathogenic" "" "0000868992" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "PROM1 c.1117C>T, p.Arg373Cys" "heterozygous" "Unknown" "?" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "ACMG" "0000868993" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "PROM1 c.1117C>T, p.Arg373Cys" "heterozygous" "Unknown" "?" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "ACMG" "0000868994" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "PROM1 c.1117C>T, p.Arg373Cys" "heterozygous" "Unknown" "?" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "ACMG" "0000868995" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "PROM1 c.1117C>T, p.Arg373Cys" "heterozygous" "Unknown" "?" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "ACMG" "0000868996" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "PROM1 c.1117C>T, p.Arg373Cys" "heterozygous" "Unknown" "?" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "ACMG" "0000868997" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "PROM1 c.1117C>T, p.Arg373Cys" "heterozygous" "Unknown" "?" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "ACMG" "0000868998" "1" "70" "4" "16002140" "16002140" "subst" "3.26763E-5" "00000" "PROM1_000041" "g.16002140G>T" "" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "PROM1 c.1557C>A, p.Tyr519*" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.16000517G>T" "" "pathogenic" "ACMG" "0000868999" "3" "70" "4" "15993929" "15993929" "subst" "0" "00000" "PROM1_000129" "g.15993929A>C" "" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "PROM1 c.1853T>G, p.Leu618Arg" "homozygous" "Unknown" "?" "" "0" "" "" "g.15992306A>C" "" "pathogenic" "ACMG" "0000869000" "3" "70" "4" "16010732" "16010732" "subst" "3.27394E-5" "00000" "PROM1_000105" "g.16010732C>T" "" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "PROM1 c.1142-1G>A, Splice acceptor site" "homozygous" "Unknown" "?" "" "0" "" "" "g.16009109C>T" "" "pathogenic" "ACMG" "0000869001" "1" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "PROM1 c.1354_1355insT, p.Tyr452Leufs*13" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.16006643dup" "" "pathogenic" "ACMG" "0000869002" "3" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "PROM1 c.1354_1355insT, p.Tyr452Leufs*13" "homozygous" "Unknown" "?" "" "0" "" "" "g.16006643dup" "" "pathogenic" "ACMG" "0000869003" "1" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "PROM1 c.1354_1355insT, p.Tyr452Leufs*13" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.16006643dup" "" "pathogenic" "ACMG" "0000869004" "1" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "PROM1 c.1354_1355insT, p.Tyr452Leufs*13" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.16006643dup" "" "pathogenic" "ACMG" "0000869005" "1" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "PROM1 c.1354_1355insT, p.Tyr452Leufs*13" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.16006643dup" "" "pathogenic" "ACMG" "0000869006" "3" "70" "4" "16008266" "16008266" "dup" "0" "00000" "PROM1_000004" "g.16008266dup" "" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "PROM1 c.1354_1355insT, p.Tyr452Leufs*13" "homozygous" "Unknown" "?" "" "0" "" "" "g.16006643dup" "" "pathogenic" "ACMG" "0000869007" "3" "70" "4" "16077331" "16077331" "subst" "0" "00000" "PROM1_000131" "g.16077331G>A" "" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "PROM1 c.199C>T, p.Gln67*" "homozygous" "Unknown" "?" "" "0" "" "" "g.16075708G>A" "" "pathogenic" "ACMG" "0000869008" "1" "70" "4" "16010570" "16010570" "subst" "3.30128E-5" "00000" "PROM1_000220" "g.16010570A>G" "" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "PROM1 c.1301+2T>C, Splice donor site" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.16008947A>G" "" "pathogenic" "ACMG" "0000869009" "3" "70" "4" "16000112" "16000112" "subst" "3.4539E-5" "00000" "PROM1_000118" "g.16000112C>G" "" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "PROM1 c.1579-1G>C, Splice acceptor site" "homozygous" "Unknown" "?" "" "0" "" "" "g.15998489C>G" "" "pathogenic" "ACMG" "0000869010" "3" "70" "4" "16010732" "16010732" "subst" "3.27394E-5" "00000" "PROM1_000105" "g.16010732C>T" "" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "PROM1 c.1142-1G>A, Splice acceptor site" "homozygous" "Unknown" "?" "" "0" "" "" "g.16009109C>T" "" "pathogenic" "ACMG" "0000869011" "2" "70" "4" "16010697" "16010698" "del" "0" "00000" "PROM1_000125" "g.16010697_16010698del" "" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "c.1177_1178delAT, p.Ile393Argfs*21" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.16009074_16009075del" "" "pathogenic" "ACMG" "0000869012" "2" "70" "4" "16010732" "16010732" "subst" "3.27394E-5" "00000" "PROM1_000105" "g.16010732C>T" "" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "c.1142-1G>A, Splice acceptor site" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.16009109C>T" "" "pathogenic" "ACMG" "0000869013" "2" "70" "4" "16077510" "16077510" "del" "0" "00000" "PROM1_000254" "g.16077510del" "" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "c.22del, p.Leu8fs*" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.16075887del" "" "pathogenic" "ACMG" "0000869014" "2" "70" "4" "16035000" "16035000" "subst" "1.2192E-5" "00000" "PROM1_000127" "g.16035000G>A" "" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "c.436C>T, p.Arg146*" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.16033377G>A" "" "pathogenic" "ACMG" "0000869015" "2" "70" "4" "16002140" "16002140" "subst" "3.26763E-5" "00000" "PROM1_000041" "g.16002140G>T" "" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "c.1557C>A, p.Tyr519*" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.16000517G>T" "" "pathogenic" "ACMG" "0000869016" "2" "70" "4" "15995610" "15995610" "subst" "4.0706E-6" "00000" "PROM1_000245" "g.15995610C>T" "" "{PMID:Cehajic-Kapetanovic 2019:31199449}" "" "c.1767G>A, Splice donor site" "compound heterozygous" "Unknown" "?" "" "0" "" "" "g.15993987C>T" "" "pathogenic" "ACMG" "0000869017" "21" "70" "4" "16077393" "16077393" "del" "0" "00000" "PROM1_000148" "g.16077393del" "" "{PMID:Ragi 2019:31836589}" "" "PROM1 c.139del:p.His47Ilefs*12" "compound heterozygous" "Germline" "yes" "rs747512450" "0" "" "" "g.16075770del" "" "likely pathogenic" "" "0000869018" "11" "70" "4" "15993905" "15993906" "del" "0" "00000" "PROM1_000181" "g.15993905_15993906del" "" "{PMID:Ragi 2019:31836589}" "" "PROM1 c.1877_1878del:p.Ile626Argfs*6" "compound heterozygous" "Germline" "yes" "rs1300041533" "0" "" "" "g.15992282_15992283del" "" "likely pathogenic" "" "0000869020" "10" "90" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Fujinami 2020:32820593}" "" "PROM1 c.1117C>T, p.Arg373Cys" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "" "0000869021" "11" "90" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Fujinami 2020:32820593}" "" "PROM1 c.1117C>T, p.Arg373Cys" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "" "0000869022" "11" "90" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Fujinami 2020:32820593}" "" "PROM1 c.1117C>T, p.Arg373Cys" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "" "0000869023" "0" "90" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Fujinami 2020:32820593}" "" "PROM1 c.1117C>T, p.Arg373Cys" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "" "0000869024" "10" "90" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Fujinami 2020:32820593}" "" "PROM1 c.1117C>T, p.Arg373Cys" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "" "0000869025" "20" "90" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Fujinami 2020:32820593}" "" "PROM1 c.1117C>T, p.Arg373Cys" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "" "0000869026" "10" "90" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Fujinami 2020:32820593}" "" "PROM1 c.1117C>T, p.Arg373Cys" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "" "0000869027" "21" "90" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Fujinami 2020:32820593}" "" "PROM1 c.1117C>T, p.Arg373Cys" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "" "0000869028" "20" "90" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Fujinami 2020:32820593}" "" "PROM1 c.1117C>T, p.Arg373Cys" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "" "0000869029" "20" "70" "4" "16035102" "16035102" "subst" "0" "00000" "PROM1_000253" "g.16035102A>G" "" "{PMID:Fujinami 2020:32820593}" "" "PROM1 c.334T>C, p.Cys112Arg" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16033479A>G" "" "likely pathogenic" "" "0000869030" "0" "50" "4" "16077372" "16077372" "subst" "4.4742E-5" "00000" "PROM1_000078" "g.16077372C>T" "" "{PMID:Fujinami 2020:32820593}" "" "PROM1 c.158G>A, p.Gly53Asp" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16075749C>T" "" "VUS" "" "0000869031" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Wang 2021:34008001}" "" "PROM1 c.1117C>T, p.Arg373Cys" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic (dominant)" "" "0000869032" "11" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Wang 2021:34008001}" "" "PROM1 c.1117C>T, p.Arg373Cys" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic (dominant)" "" "0000869033" "11" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Wang 2021:34008001}" "" "PROM1 c.1117C>T, p.Arg373Cys" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic (dominant)" "" "0000869034" "21" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Wang 2021:34008001}" "" "PROM1 c.1117C>T, p.Arg373Cys" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic (dominant)" "" "0000869035" "10" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Wang 2021:34008001}" "" "PROM1 c.1117C>T, p.Arg373Cys" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic (dominant)" "" "0000869036" "10" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Wang 2021:34008001}" "" "PROM1 c.1117C>T, p.Arg373Cys" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic (dominant)" "" "0000869037" "21" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Wang 2021:34008001}" "" "PROM1 c.1117C>T, p.Arg373Cys" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic (dominant)" "" "0000869038" "21" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Wang 2021:34008001}" "" "PROM1 c.1117C>T, p.Arg373Cys" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic (dominant)" "" "0000869039" "0" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Wang 2021:34008001}" "" "PROM1 c.1117C>T, p.Arg373Cys" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic (dominant)" "" "0000869040" "20" "70" "4" "16014922" "16014922" "subst" "0" "00000" "PROM1_000003" "g.16014922G>A" "" "{PMID:Wang 2021:34008001}" "" "PROM1 c.1117C>T, p.Arg373Cys" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16013299G>A" "" "likely pathogenic (dominant)" "" "0000881436" "3" "50" "4" "15995610" "15995610" "subst" "4.0706E-6" "04405" "PROM1_000245" "g.15995610C>T" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.15993987C>T" "" "VUS" "ACMG" "0000881437" "3" "70" "4" "16002118" "16002118" "subst" "0" "04405" "PROM1_000255" "g.16002118C>A" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.16000495C>A" "" "likely pathogenic" "ACMG" "0000881438" "1" "90" "4" "16014922" "16014922" "subst" "0" "04405" "PROM1_000003" "g.16014922G>A" "" "{PMID:Hitti-Malin 2022:36259723}, {DOI:Hitti-Malin 2022:10.1002/humu.24489}" "" "" "" "Germline" "" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "ACMG" "0000886179" "0" "30" "4" "15987392" "15987392" "subst" "0.000371587" "02330" "PROM1_000256" "g.15987392G>A" "" "" "" "PROM1(NM_006017.3):c.2271C>T (p.I757=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886180" "0" "30" "4" "15991394" "15991394" "subst" "0" "02330" "PROM1_000257" "g.15991394T>A" "" "" "" "PROM1(NM_006017.3):c.2037A>T (p.T679=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886181" "0" "90" "4" "16000113" "16000113" "subst" "0" "02327" "PROM1_000258" "g.16000113T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000886182" "0" "70" "4" "16008191" "16008191" "subst" "0" "02327" "PROM1_000259" "g.16008191A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000896450" "1" "90" "4" "16077393" "16077393" "del" "0" "00000" "PROM1_000148" "g.16077393del" "Taiwan Biobank: 0; GnomAD_exome_East: 0.000389; GnomAD_All: 0.0000281" "{PMID:Chen 2021:33608557}" "" "PROM1 c.[139del];[242dupA]; p.(His47IlefsTer12)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16075770del" "" "pathogenic" "" "0000896451" "2" "90" "4" "16040603" "16040603" "dup" "0" "00000" "PROM1_000228" "g.16040603dup" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "PROM1 c.[139del];[242dupA]; p.(Lys82GlufsTer4)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16038980dup" "" "pathogenic" "" "0000896478" "1" "70" "4" "16037358" "16037358" "subst" "0" "00000" "PROM1_000227" "g.16037358C>G" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "PROM1 c.[303G>C];[303=]; p.(Lys101Asn)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16035735C>G" "" "likely pathogenic" "" "0000896544" "1" "90" "4" "16077393" "16077393" "del" "0" "00000" "PROM1_000148" "g.16077393del" "Taiwan Biobank: 0; GnomAD_exome_East: 0.000389; GnomAD_All: 0.0000281" "{PMID:Chen 2021:33608557}" "" "PROM1 c.[139del];[139=]; p.(His47IlefsTer12)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16075770del" "" "pathogenic" "" "0000896646" "1" "50" "4" "16077331" "16077331" "subst" "2.04102E-5" "00000" "PROM1_000229" "g.16077331G>C" "Taiwan Biobank: 0; GnomAD_exome_East: 0.000279; GnomAD_All: 0.0000202" "{PMID:Chen 2021:33608557}" "" "PROM1 c.[199C>G];[199=]; p.(Gln67Glu)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16075708G>C" "" "VUS" "" "0000896662" "1" "50" "4" "16025991" "16025996" "del" "0" "00000" "PROM1_000226" "g.16025991_16025996del" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "PROM1 c.[139del];[631-15_631-10del]; p.?" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16024368_16024373del" "" "VUS" "" "0000896663" "2" "90" "4" "16077393" "16077393" "del" "0" "00000" "PROM1_000148" "g.16077393del" "Taiwan Biobank: 0; GnomAD_exome_East: 0.000389; GnomAD_All: 0.0000281" "{PMID:Chen 2021:33608557}" "" "PROM1 c.[139del];[631-15_631-10del]; p.(His47IlefsTer12)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.16075770del" "" "pathogenic" "" "0000904503" "0" "90" "4" "15985944" "15985944" "subst" "0" "00000" "PROM1_000261" "g.15985944G>A" "" "{PMID:Xiao 2017:29260190}" "" "NM_006017:exon22:c.C2315T:p.A772V" "heterozygous" "Germline" "no" "" "0" "" "" "g.15984321G>A" "" "pathogenic (dominant)" "" "0000904504" "0" "90" "4" "15982076" "15982076" "subst" "0.000143511" "00000" "PROM1_000260" "g.15982076G>C" "" "{PMID:Xiao 2017:29260190}" "" "NM_001145851:exon22:c.C2431G:p.R811G" "different transcript: NM_001145851:c.2431C>G:p.R811G shifted to NM_006017.2:c.2458C>G:p.R820G; heterozygous" "Germline" "no" "" "0" "" "" "g.15980453G>C" "" "pathogenic (dominant)" "" "0000912076" "0" "50" "4" "15992882" "15992882" "subst" "2.51029E-5" "02327" "PROM1_000144" "g.15992882G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912077" "0" "50" "4" "16000058" "16000058" "subst" "3.30767E-5" "02327" "PROM1_000152" "g.16000058C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915949" "1" "50" "4" "16017789" "16017789" "subst" "0" "04436" "PROM1_000263" "g.16017789C>A" "" "{PMID:Panneman 2023:36819107}" "" "c.1077G>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000915950" "2" "90" "4" "16010732" "16010732" "subst" "3.27394E-5" "04436" "PROM1_000105" "g.16010732C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.1142-1G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000915956" "1" "90" "4" "15995667" "15995667" "subst" "4.06494E-6" "04436" "PROM1_000123" "g.15995667G>T" "" "{PMID:Panneman 2023:36819107}" "" "c.1710C>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000915957" "2" "90" "4" "15995651" "15995651" "subst" "4.06468E-6" "04436" "PROM1_000002" "g.15995651G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.1726C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916032" "0" "90" "4" "16014922" "16014922" "subst" "0" "04436" "PROM1_000003" "g.16014922G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.1117C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916057" "1" "90" "4" "15995667" "15995667" "subst" "4.06494E-6" "04436" "PROM1_000123" "g.15995667G>T" "" "{PMID:Panneman 2023:36819107}" "" "c.1710C>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916058" "2" "90" "4" "15995651" "15995651" "subst" "4.06468E-6" "04436" "PROM1_000002" "g.15995651G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.1726C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916062" "1" "50" "4" "16017789" "16017789" "subst" "0" "04436" "PROM1_000263" "g.16017789C>A" "" "{PMID:Panneman 2023:36819107}" "" "c.1077G>T" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000916063" "2" "90" "4" "16010732" "16010732" "subst" "3.27394E-5" "04436" "PROM1_000105" "g.16010732C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.1142-1G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916161" "1" "50" "4" "15982088" "15982088" "subst" "3.09119E-5" "04436" "PROM1_000262" "g.15982088C>G" "" "{PMID:Panneman 2023:36819107}" "" "c.2446G>C" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000916162" "2" "90" "4" "15982073" "15982073" "subst" "0" "04436" "PROM1_000164" "g.15982073G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.2461C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916203" "3" "90" "4" "16010695" "16010696" "del" "1.22024E-5" "04436" "PROM1_000125" "g.16010695_16010696del" "" "{PMID:Panneman 2023:36819107}" "" "c.1177_1178del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916307" "0" "90" "4" "16014922" "16014922" "subst" "0" "04436" "PROM1_000003" "g.16014922G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.1117C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916369" "3" "70" "4" "16026936" "16026936" "subst" "4.06616E-6" "04436" "PROM1_000007" "g.16026936C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.510-1G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916398" "1" "70" "4" "16026901" "16026901" "subst" "0" "04436" "PROM1_000264" "g.16026901G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.544C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916399" "2" "90" "4" "15991381" "15991381" "subst" "4.17728E-6" "04436" "PROM1_000132" "g.15991381G>A" "" "{PMID:Panneman 2023:36819107}" "" "c.2050C>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916428" "3" "70" "4" "15987578" "15987578" "subst" "0" "04436" "PROM1_000193" "g.15987578A>G" "" "{PMID:Panneman 2023:36819107}" "" "c.2211+2T>C" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000916443" "3" "90" "4" "15991448" "15991448" "subst" "0" "04436" "PROM1_000117" "g.15991448C>A" "" "{PMID:Panneman 2023:36819107}" "" "c.1984-1G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916447" "1" "90" "4" "16000112" "16000112" "subst" "3.4539E-5" "04436" "PROM1_000118" "g.16000112C>G" "" "{PMID:Panneman 2023:36819107}" "" "c.1579-1G>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916448" "2" "50" "4" "15982088" "15982088" "subst" "3.09119E-5" "04436" "PROM1_000262" "g.15982088C>G" "" "{PMID:Panneman 2023:36819107}" "" "c.2446G>C" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000916567" "3" "90" "4" "15991448" "15991448" "subst" "0" "04436" "PROM1_000117" "g.15991448C>A" "" "{PMID:Panneman 2023:36819107}" "" "c.1984-1G>T" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916705" "1" "90" "4" "16008261" "16008261" "dup" "0" "04436" "PROM1_000004" "g.16008261dup" "" "{PMID:Panneman 2023:36819107}" "" "c.1354dup" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000916706" "2" "70" "4" "15991426" "15991426" "del" "4.24758E-6" "04436" "PROM1_000009" "g.15991426del" "" "{PMID:Panneman 2023:36819107}" "" "c.2005del" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000917735" "1" "90" "4" "16010570" "16010570" "subst" "3.30128E-5" "04091" "PROM1_000220" "g.16010570A>G" "" "{PMID:Reurink 2023:36785559}, {DOI:Reurink 2023:10.1016/j.xhgg.2023.100181}" "" "" "" "Germline" "" "" "0" "" "" "g.16008947A>G" "" "pathogenic" "ACMG" "0000917816" "2" "50" "4" "15988355" "15988355" "subst" "0" "04091" "PROM1_000265" "g.15988355T>G" "" "{PMID:Reurink 2023:36785559}, {DOI:Reurink 2023:10.1016/j.xhgg.2023.100181}" "" "" "" "Germline" "" "" "0" "" "" "g.15986732T>G" "" "VUS" "ACMG" "0000924079" "0" "30" "4" "15985950" "15985950" "subst" "0.000253432" "02330" "PROM1_000266" "g.15985950G>T" "" "" "" "PROM1(NM_006017.3):c.2309C>A (p.P770H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924080" "0" "90" "4" "15991363" "15991363" "subst" "4.26719E-6" "02330" "PROM1_000267" "g.15991363G>A" "" "" "" "PROM1(NM_006017.3):c.2068C>T (p.Q690*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000927644" "0" "50" "4" "15982151" "15982151" "subst" "7.09059E-6" "04473" "PROM1_000115" "g.15982151A>G" "" "{PMID:Bianco 2023:36563963}" "" "" "" "Unknown" "-" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000933414" "0" "90" "4" "15989284" "15989284" "del" "2.88154E-5" "04552" "PROM1_000135" "g.15989284del" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs768303070" "0" "" "" "g.15987661del" "{CV:236129}" "pathogenic" "ACMG" "0000933415" "0" "90" "4" "16077309" "16077309" "subst" "4.1402E-6" "04552" "PROM1_000269" "g.16077309C>G" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "" "0" "" "" "" "{CV:7898}" "pathogenic" "ACMG" "0000933433" "0" "90" "4" "15989284" "15989284" "del" "2.88154E-5" "04552" "PROM1_000135" "g.15989284del" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs768303070" "0" "" "" "g.15987661del" "{CV:99292}" "pathogenic" "ACMG" "0000933434" "0" "90" "4" "16035000" "16035000" "subst" "1.2192E-5" "04552" "PROM1_000127" "g.16035000G>A" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs780697796" "0" "" "" "" "{CV:1065650}" "pathogenic" "ACMG" "0000933437" "0" "90" "4" "16008194" "16008195" "del" "0" "04552" "PROM1_000268" "g.16008194_16008195del" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.16006571_16006572del" "{CV:7904}" "pathogenic" "ACMG" "0000933597" "0" "90" "4" "15989284" "15989284" "del" "2.88154E-5" "04552" "PROM1_000135" "g.15989284del" "" "Villafuerte-de la Cruz RA, et al., 2023. Submitted" "" "" "" "Germline" "yes" "rs768303070" "0" "" "" "g.15987661del" "{CV:941626}" "pathogenic" "ACMG" "0000958166" "3" "90" "4" "16077331" "16077331" "subst" "0" "00006" "PROM1_000131" "g.16077331G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.16075708G>A" "987418" "pathogenic" "ACMG" "0000958187" "3" "70" "4" "16008266" "16008266" "dup" "0" "00006" "PROM1_000004" "g.16008266dup" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.16006643dup" "" "likely pathogenic" "ACMG" "0000958421" "0" "90" "4" "15981529" "15981529" "subst" "0.000128422" "00006" "PROM1_000015" "g.15981529T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline" "" "" "0" "" "" "g.15979906T>C" "" "pathogenic" "ACMG" "0000958465" "0" "50" "4" "16020064" "16020064" "subst" "0" "00006" "PROM1_000271" "g.16020064T>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.16018441T>G" "" "VUS" "ACMG" "0000958677" "0" "90" "4" "16014922" "16014922" "subst" "0" "00006" "PROM1_000003" "g.16014922G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG, PS4_MODERATE" "Germline" "" "" "0" "" "" "g.16013299G>A" "5610" "pathogenic" "ACMG" "0000958961" "0" "50" "4" "15994002" "15994002" "subst" "0.000142326" "00006" "PROM1_000114" "g.15994002T>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, BP4" "Germline" "" "" "0" "" "" "g.15992379T>G" "" "VUS" "ACMG" "0000959010" "0" "70" "4" "16010716" "16010716" "subst" "0" "00006" "PROM1_000049" "g.16010716A>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.16009093A>T" "" "likely pathogenic" "ACMG" "0000959049" "11" "90" "4" "15981529" "15981529" "subst" "0.000128422" "00006" "PROM1_000015" "g.15981529T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.15979906T>C" "" "pathogenic" "ACMG" "0000959366" "0" "70" "4" "16010697" "16010698" "del" "0" "00006" "PROM1_000125" "g.16010697_16010698del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.16009074_16009075del" "" "likely pathogenic (recessive)" "ACMG" "0000959403" "0" "50" "4" "16026841" "16026841" "subst" "0.00024782" "00006" "PROM1_000093" "g.16026841G>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP5, BP6" "Germline" "" "" "0" "" "" "g.16025218G>C" "" "VUS" "ACMG" "0000959439" "0" "90" "4" "15981529" "15981529" "subst" "0.000128422" "00006" "PROM1_000015" "g.15981529T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline" "" "" "0" "" "" "g.15979906T>C" "" "pathogenic" "ACMG" "0000959441" "0" "90" "4" "15981529" "15981529" "subst" "0.000128422" "00006" "PROM1_000015" "g.15981529T>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG, PP5_STRONG" "Germline" "" "" "0" "" "" "g.15979906T>C" "" "pathogenic" "ACMG" "0000959451" "0" "90" "4" "15985889" "15985899" "del" "0" "00006" "PROM1_000270" "g.15985889_15985899del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.15984266_15984276del" "" "pathogenic" "ACMG" "0000959476" "0" "50" "4" "16034999" "16034999" "subst" "7.72075E-5" "00006" "PROM1_000204" "g.16034999C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.16033376C>T" "" "VUS" "ACMG" "0000963049" "0" "50" "4" "15972698" "15972698" "subst" "6.78221E-5" "02327" "PROM1_000079" "g.15972698G>A" "" "" "" "PROM1(NM_001145847.2):c.2563C>T (p.Q855*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963050" "0" "30" "4" "15982094" "15982094" "subst" "0" "02327" "PROM1_000272" "g.15982094T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963053" "0" "50" "4" "15992840" "15992840" "subst" "0" "02327" "PROM1_000143" "g.15992840C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963054" "0" "10" "4" "15994019" "15994019" "subst" "0.0357279" "02327" "PROM1_000062" "g.15994019G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000963055" "0" "90" "4" "15995678" "15995678" "dup" "0" "02327" "PROM1_000236" "g.15995678dup" "" "" "" "PROM1(NM_001145847.1):c.1672dupA (p.R558Kfs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000963056" "0" "50" "4" "16010575" "16010575" "subst" "1.64386E-5" "02327" "PROM1_000273" "g.16010575T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963058" "0" "90" "4" "16025003" "16025003" "subst" "1.69052E-5" "02327" "PROM1_000008" "g.16025003G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000976186" "0" "50" "4" "15992883" "15992883" "subst" "2.92037E-5" "01804" "PROM1_000274" "g.15992883A>G" "" "" "" "PROM1(NM_006017.3):c.1945T>C (p.(Ser649Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976187" "0" "30" "4" "16008270" "16008270" "subst" "0.00117772" "01804" "PROM1_000110" "g.16008270C>T" "" "" "" "PROM1(NM_001145847.1):c.1318G>A (p.V440M), PROM1(NM_006017.3):c.1345G>A (p.(Val449Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976188" "0" "50" "4" "16026841" "16026841" "subst" "0.00024782" "01804" "PROM1_000093" "g.16026841G>C" "" "" "" "PROM1(NM_001145847.1):c.577C>G (p.R193G), PROM1(NM_001145847.2):c.577C>G (p.R193G), PROM1(NM_006017.3):c.604C>G (p.(Arg202Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976189" "0" "90" "4" "16037357" "16037357" "subst" "1.6259E-5" "02327" "PROM1_000134" "g.16037357C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000985485" "3" "90" "4" "16040644" "16040644" "subst" "0" "02230" "PROM1_000275" "g.16040644A>C" "" "{PMID:Zeuli 2024:38816995}" "" "" "" "Germline" "" "" "0" "" "" "g.16039021A>C" "" "pathogenic (recessive)" "" "0000985486" "3" "90" "4" "16040644" "16040644" "subst" "0" "02230" "PROM1_000275" "g.16040644A>C" "" "{PMID:Zeuli 2024:38816995}" "" "" "" "Germline" "" "" "0" "" "" "g.16039021A>C" "" "pathogenic (recessive)" "" "0000986492" "1" "70" "4" "15993870" "16000112" "del" "0" "04405" "PROM1_000230" "g.(15993870_15992917)_(16002118_16000112)del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000986493" "1" "90" "4" "16014922" "16014922" "subst" "0" "04405" "PROM1_000003" "g.16014922G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "ACMG" "0000986494" "1" "90" "4" "16014922" "16014922" "subst" "0" "04405" "PROM1_000003" "g.16014922G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "ACMG" "0000986495" "3" "90" "4" "16008266" "16008266" "dup" "0" "04405" "PROM1_000004" "g.16008266dup" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.16006643dup" "" "pathogenic" "ACMG" "0000986496" "1" "90" "4" "16014922" "16014922" "subst" "0" "04405" "PROM1_000003" "g.16014922G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "ACMG" "0000986497" "3" "50" "4" "15982049" "15982049" "subst" "7.1449E-5" "04405" "PROM1_000052" "g.15982049C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.15980426C>T" "" "VUS" "ACMG" "0000986498" "3" "50" "4" "15982049" "15982049" "subst" "7.1449E-5" "04405" "PROM1_000052" "g.15982049C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.15980426C>T" "" "VUS" "ACMG" "0000986499" "1" "90" "4" "15987596" "15987596" "del" "0" "04405" "PROM1_000276" "g.15987596del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.15985973del" "" "pathogenic" "ACMG" "0000986500" "1" "50" "4" "16025913" "16025913" "subst" "0" "04405" "PROM1_000279" "g.16025913C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.16024290C>T" "" "VUS" "ACMG" "0000986501" "1" "90" "4" "16014922" "16014922" "subst" "0" "04405" "PROM1_000003" "g.16014922G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "ACMG" "0000986502" "3" "90" "4" "16008266" "16008266" "dup" "0" "04405" "PROM1_000004" "g.16008266dup" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.16006643dup" "" "pathogenic" "ACMG" "0000986503" "3" "50" "4" "16026841" "16026841" "subst" "0.00024782" "04405" "PROM1_000093" "g.16026841G>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.16025218G>C" "" "VUS" "ACMG" "0000986504" "1" "90" "4" "16014922" "16014922" "subst" "0" "04405" "PROM1_000003" "g.16014922G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "ACMG" "0000986505" "1" "90" "4" "16014922" "16014922" "subst" "0" "04405" "PROM1_000003" "g.16014922G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "ACMG" "0000986506" "1" "90" "4" "16014922" "16014922" "subst" "0" "04405" "PROM1_000003" "g.16014922G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "ACMG" "0000986507" "3" "70" "4" "16000078" "16000078" "del" "0" "04405" "PROM1_000130" "g.16000078del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.15998455del" "" "likely pathogenic" "ACMG" "0000986508" "1" "90" "4" "16014922" "16014922" "subst" "0" "04405" "PROM1_000003" "g.16014922G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "ACMG" "0000986509" "3" "70" "4" "16008287" "16008296" "dup" "0" "04405" "PROM1_000277" "g.16008287_16008296dup" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.16006664_16006673dup" "" "likely pathogenic" "ACMG" "0000986510" "1" "90" "4" "16014922" "16014922" "subst" "0" "04405" "PROM1_000003" "g.16014922G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "ACMG" "0000986511" "1" "90" "4" "16025970" "16025970" "subst" "1.23954E-5" "04405" "PROM1_000188" "g.16025970A>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.16024347A>T" "" "pathogenic" "ACMG" "0000986512" "1" "90" "4" "16014922" "16014922" "subst" "0" "04405" "PROM1_000003" "g.16014922G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "carries likely causative variants in more than one gene" "Germline" "" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "ACMG" "0000986513" "1" "90" "4" "16014922" "16014922" "subst" "0" "04405" "PROM1_000003" "g.16014922G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.16013299G>A" "" "pathogenic" "ACMG" "0000986945" "2" "50" "4" "16025049" "16025049" "subst" "0" "04405" "PROM1_000278" "g.16025049A>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.16023426A>C" "" "VUS" "ACMG" "0000987003" "0" "90" "4" "15995687" "15995687" "dup" "0" "00006" "PROM1_000178" "g.15995687dup" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.15994064dup" "" "pathogenic" "ACMG" "0000987024" "0" "90" "4" "16008266" "16008266" "dup" "0" "00006" "PROM1_000004" "g.16008266dup" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.16006643dup" "" "pathogenic" "ACMG" "0000987151" "0" "90" "4" "16008266" "16008266" "dup" "0" "00006" "PROM1_000004" "g.16008266dup" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.16006643dup" "" "pathogenic" "ACMG" "0000987343" "0" "90" "4" "16025003" "16025003" "subst" "1.69052E-5" "00006" "PROM1_000008" "g.16025003G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "no variant 2nd chromosome, case unsolved" "Germline" "" "" "0" "" "" "g.16023380G>A" "" "pathogenic" "ACMG" "0000987660" "3" "70" "4" "16000041" "16000041" "subst" "0" "04543" "PROM1_000280" "g.16000041G>C" "" "{PMID:Basharat 2024:38815792}" "" "" "ACMG PVS1, PM2" "Germline" "yes" "" "0" "" "" "g.15998418G>C" "" "likely pathogenic (recessive)" "ACMG" "0000987661" "3" "70" "4" "16000041" "16000041" "subst" "0" "04543" "PROM1_000280" "g.16000041G>C" "" "{PMID:Basharat 2024:38815792}" "" "" "ACMG PVS1, PM2" "Germline" "yes" "" "0" "" "" "g.15998418G>C" "" "likely pathogenic (recessive)" "ACMG" "0000987662" "3" "70" "4" "16000041" "16000041" "subst" "0" "04543" "PROM1_000280" "g.16000041G>C" "" "{PMID:Basharat 2024:38815792}" "" "" "ACMG PVS1, PM2" "Germline" "yes" "" "0" "" "" "g.15998418G>C" "" "likely pathogenic (recessive)" "ACMG" "0001024901" "0" "90" "4" "16002140" "16002140" "subst" "3.26763E-5" "02330" "PROM1_000041" "g.16002140G>T" "" "" "" "PROM1(NM_006017.3):c.1557C>A (p.Y519*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001024902" "0" "90" "4" "16002163" "16002163" "subst" "4.08007E-6" "02327" "PROM1_000281" "g.16002163C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001034417" "0" "30" "4" "16077324" "16077324" "subst" "3.28186E-5" "01804" "PROM1_000035" "g.16077324C>T" "" "" "" "PROM1(NM_001145847.1):c.206G>A (p.R69H), PROM1(NM_006017.3):c.206G>A (p.(Arg69His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PROM1 ## Count = 744 "{{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}}" "0000019509" "00016885" "90" "2011" "0" "2011" "0" "c.2011A>T" "r.(?)" "p.(Lys671*)" "18" "0000019510" "00016885" "90" "510" "-1" "510" "-1" "c.510-1G>A" "r.spl" "p.?" "4i" "0000019514" "00016885" "90" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Arg244*)" "7" "0000019515" "00016885" "90" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*13)" "12" "0000036428" "00016885" "50" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "10" "0000060152" "00016885" "99" "1841" "0" "1841" "0" "c.1841del" "r.(?)" "p.(Gly614Glufs*13)" "16" "0000060153" "00016885" "99" "1726" "0" "1726" "0" "c.1726C>T" "r.(?)" "p.(Gln576*)" "15" "0000060154" "00016885" "99" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "10" "0000060155" "00016885" "99" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "10" "0000060156" "00016885" "99" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "10" "0000060157" "00016885" "99" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "10" "0000060158" "00016885" "99" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "10" "0000060159" "00016885" "99" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*12)" "12" "0000060160" "00016885" "70" "1034" "0" "1034" "0" "c.1034T>C" "r.(?)" "p.(Val345Ala)" "10" "0000060161" "00016885" "70" "1034" "0" "1034" "0" "c.1034T>C" "r.(?)" "p.(Val345Ala)" "10" "0000060162" "00016885" "70" "524" "0" "524" "0" "c.524A>C" "r.(?)" "p.(Tyr175Ser)" "6" "0000060163" "00016885" "90" "1530" "0" "1530" "0" "c.1530C>G" "r.(?)" "p.(Tyr510*)" "13" "0000060164" "00016885" "90" "1530" "0" "1530" "0" "c.1530C>G" "r.(?)" "p.(Tyr510*)" "13" "0000060165" "00016885" "70" "1957" "-1" "1957" "-1" "c.1957-1G>T" "r.spl" "p.?" "17i" "0000158342" "00016885" "90" "1726" "0" "1726" "0" "c.1726C>T" "r.(?)" "p.(Gln576*)" "15" "0000249040" "00016885" "10" "2582" "3195" "2582" "3195" "c.2582+3195T>G" "r.(=)" "p.(=)" "" "0000249041" "00016885" "10" "2489" "118" "2489" "118" "c.2489+118del" "r.(=)" "p.(=)" "" "0000249042" "00016885" "10" "2374" "-6" "2374" "-6" "c.2374-6T>C" "r.(=)" "p.(=)" "" "0000256077" "00016885" "50" "1166" "0" "1166" "0" "c.1166T>C" "r.(?)" "p.(Ile389Thr)" "" "0000256252" "00016885" "50" "1199" "0" "1199" "0" "c.1199T>C" "r.(?)" "p.(Leu400Pro)" "" "0000294441" "00016885" "10" "1077" "6" "1077" "6" "c.1077+6C>G" "r.(=)" "p.(=)" "" "0000294442" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000294443" "00016885" "10" "1142" "-17" "1142" "-17" "c.1142-17G>A" "r.(=)" "p.(=)" "" "0000294444" "00016885" "10" "1497" "0" "1497" "0" "c.1497C>T" "r.(?)" "p.(Ile499=)" "" "0000294445" "00016885" "10" "1911" "14" "1911" "14" "c.1911+14G>A" "r.(=)" "p.(=)" "" "0000294446" "00016885" "90" "2077" "-521" "2077" "-521" "c.2077-521A>G" "r.(=)" "p.(=)" "" "0000294447" "00016885" "50" "2284" "0" "2284" "0" "c.2284A>G" "r.(?)" "p.(Ser762Gly)" "" "0000294448" "00016885" "10" "2374" "-16" "2374" "-16" "c.2374-16G>A" "r.(=)" "p.(=)" "" "0000294450" "00016885" "70" "2490" "-2" "2490" "-2" "c.2490-2A>G" "r.spl?" "p.?" "" "0000294451" "00016885" "30" "963" "0" "963" "0" "c.963G>T" "r.(?)" "p.(Leu321Phe)" "" "0000297378" "00016885" "10" "2582" "3190" "2582" "3190" "c.2582+3190G>C" "r.(=)" "p.(=)" "" "0000297379" "00016885" "10" "303" "6" "303" "6" "c.303+6G>A" "r.(=)" "p.(=)" "" "0000306448" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000306449" "00016885" "30" "1196" "0" "1196" "0" "c.1196G>A" "r.(?)" "p.(Arg399His)" "" "0000306450" "00016885" "90" "1302" "0" "1302" "0" "c.1302G>A" "r.(?)" "p.(Trp434Ter)" "" "0000306451" "00016885" "30" "1497" "0" "1497" "0" "c.1497C>T" "r.(?)" "p.(Ile499=)" "" "0000306452" "00016885" "30" "1925" "0" "1925" "0" "c.1925C>T" "r.(?)" "p.(Pro642Leu)" "" "0000306453" "00016885" "30" "1977" "0" "1977" "0" "c.1977C>T" "r.(?)" "p.(Asn659=)" "" "0000306454" "00016885" "30" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(Arg69His)" "" "0000306455" "00016885" "30" "896" "0" "896" "0" "c.896G>A" "r.(?)" "p.(Arg299Gln)" "" "0000337300" "00016885" "10" "1983" "14" "1983" "14" "c.1983+14G>A" "r.(=)" "p.(=)" "" "0000337308" "00016885" "10" "303" "6" "303" "6" "c.303+6G>A" "r.(=)" "p.(=)" "" "0000339503" "00016885" "10" "786" "0" "786" "0" "c.786G>A" "r.(?)" "p.(Ala262=)" "" "0000339504" "00016885" "10" "129" "0" "129" "0" "c.129C>T" "r.(?)" "p.(Thr43=)" "" "0000339505" "00016885" "10" "15" "0" "15" "0" "c.15C>T" "r.(?)" "p.(Leu5=)" "" "0000341415" "00016885" "50" "1139" "0" "1139" "0" "c.1139C>T" "r.(?)" "p.(Ala380Val)" "" "0000342764" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000346110" "00016885" "90" "1462" "0" "1462" "0" "c.1462G>T" "r.(?)" "p.(Gly488Ter)" "" "0000347655" "00016885" "50" "2450" "0" "2450" "0" "c.2450A>G" "r.(?)" "p.(Lys817Arg)" "" "0000350106" "00016885" "90" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452LeufsTer13)" "" "0000350125" "00016885" "90" "1557" "0" "1557" "0" "c.1557C>A" "r.(?)" "p.(Tyr519Ter)" "" "0000350953" "00016885" "10" "2281" "-6" "2281" "-6" "c.2281-6C>G" "r.(=)" "p.(=)" "" "0000358312" "00016885" "90" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*13)" "12" "0000358313" "00016885" "90" "1157" "0" "1157" "0" "c.1157T>A" "r.(?)" "p.(Leu386*)" "11" "0000441229" "00016885" "90" "2005" "0" "2005" "0" "c.2005del" "r.(?)" "p.(Ser669Profs*2)" "" "0000441230" "00016885" "90" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*13)" "" "0000476333" "00016885" "50" "2551" "0" "2551" "0" "c.2551G>A" "r.(?)" "p.(Val851Ile)" "" "0000476334" "00016885" "50" "2547" "0" "2547" "0" "c.2547T>A" "r.(?)" "p.(Asp849Glu)" "" "0000476335" "00016885" "50" "2485" "0" "2485" "0" "c.2485G>A" "r.(?)" "p.(Asp829Asn)" "" "0000476336" "00016885" "50" "2479" "0" "2479" "0" "c.2479G>A" "r.(?)" "p.(Val827Met)" "" "0000476337" "00016885" "10" "2374" "-3" "2374" "-3" "c.2374-3dup" "r.spl?" "p.?" "" "0000476338" "00016885" "50" "2357" "0" "2357" "0" "c.2357A>G" "r.(?)" "p.(Tyr786Cys)" "" "0000476339" "00016885" "50" "2281" "-5" "2281" "-5" "c.2281-5C>A" "r.spl?" "p.?" "" "0000476340" "00016885" "50" "2280" "5" "2280" "5" "c.2280+5G>A" "r.spl?" "p.?" "" "0000476341" "00016885" "50" "2189" "0" "2189" "0" "c.2189A>G" "r.(?)" "p.(Asn730Ser)" "" "0000476342" "00016885" "50" "2095" "0" "2095" "0" "c.2095G>A" "r.(?)" "p.(Val699Ile)" "" "0000476343" "00016885" "50" "2062" "0" "2062" "0" "c.2062A>G" "r.(?)" "p.(Ile688Val)" "" "0000476344" "00016885" "50" "1927" "0" "1927" "0" "c.1927G>A" "r.(?)" "p.(Ala643Thr)" "" "0000476345" "00016885" "10" "1768" "-5" "1768" "-5" "c.1768-5C>T" "r.spl?" "p.?" "" "0000476346" "00016885" "50" "1745" "0" "1745" "0" "c.1745G>T" "r.(?)" "p.(Ser582Ile)" "" "0000476347" "00016885" "50" "1738" "0" "1738" "0" "c.1738A>C" "r.(?)" "p.(Asn580His)" "" "0000476348" "00016885" "90" "1578" "1" "1578" "1" "c.1578+1G>A" "r.spl?" "p.?" "" "0000476349" "00016885" "50" "1468" "0" "1468" "0" "c.1468A>T" "r.(?)" "p.(Ser490Cys)" "" "0000476350" "00016885" "50" "1438" "0" "1438" "0" "c.1438G>A" "r.(?)" "p.(Gly480Ser)" "" "0000476351" "00016885" "50" "1259" "0" "1259" "0" "c.1259T>C" "r.(?)" "p.(Ile420Thr)" "" "0000476352" "00016885" "50" "1215" "0" "1215" "0" "c.1215A>G" "r.(?)" "p.(Ile405Met)" "" "0000476353" "00016885" "50" "1199" "0" "1199" "0" "c.1199T>C" "r.(?)" "p.(Leu400Pro)" "" "0000476354" "00016885" "50" "1151" "0" "1151" "0" "c.1151G>A" "r.(?)" "p.(Arg384Lys)" "" "0000476355" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000476356" "00016885" "50" "963" "0" "963" "0" "c.963G>T" "r.(?)" "p.(Leu321Phe)" "" "0000476357" "00016885" "50" "893" "0" "893" "0" "c.893T>A" "r.(?)" "p.(Leu298Gln)" "" "0000476358" "00016885" "50" "868" "0" "868" "0" "c.868A>C" "r.(?)" "p.(Ser290Arg)" "" "0000476359" "00016885" "50" "731" "0" "731" "0" "c.731G>A" "r.(?)" "p.(Arg244Gln)" "" "0000476360" "00016885" "50" "719" "0" "719" "0" "c.719G>T" "r.(?)" "p.(Gly240Val)" "" "0000476361" "00016885" "50" "718" "0" "718" "0" "c.718G>T" "r.(?)" "p.(Gly240*)" "" "0000476362" "00016885" "50" "706" "0" "706" "0" "c.706G>A" "r.(?)" "p.(Val236Met)" "" "0000476363" "00016885" "50" "631" "-3" "631" "-3" "c.631-3del" "r.spl?" "p.?" "" "0000476364" "00016885" "50" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Gly53Asp)" "" "0000477474" "00016885" "50" "2485" "0" "2485" "0" "c.2485G>A" "r.(?)" "p.(Asp829Asn)" "" "0000477475" "00016885" "10" "2374" "-3" "2374" "-3" "c.2374-3dup" "r.spl?" "p.?" "" "0000477476" "00016885" "50" "1738" "0" "1738" "0" "c.1738A>C" "r.(?)" "p.(Asn580His)" "" "0000521933" "00016885" "50" "2590" "0" "2590" "0" "c.2590C>T" "r.(?)" "p.(Gln864Ter)" "" "0000521934" "00016885" "90" "2490" "-2" "2490" "-2" "c.2490-2A>G" "r.spl?" "p.?" "" "0000521935" "00016885" "10" "2489" "159" "2489" "159" "c.2489+159dup" "r.(=)" "p.(=)" "" "0000521936" "00016885" "10" "2454" "0" "2454" "0" "c.2454C>T" "r.(?)" "p.(Tyr818=)" "" "0000521937" "00016885" "10" "2374" "-6" "2374" "-6" "c.2374-6dup" "r.(=)" "p.(=)" "" "0000521938" "00016885" "10" "2358" "0" "2358" "0" "c.2358C>T" "r.(?)" "p.(Tyr786=)" "" "0000521939" "00016885" "30" "2284" "0" "2284" "0" "c.2284A>G" "r.(?)" "p.(Ser762Gly)" "" "0000521940" "00016885" "50" "2131" "-13" "2131" "-13" "c.2131-13C>G" "r.(=)" "p.(=)" "" "0000521941" "00016885" "50" "1982" "0" "1982" "0" "c.1982T>C" "r.(?)" "p.(Leu661Ser)" "" "0000521942" "00016885" "10" "1751" "0" "1751" "0" "c.1751A>G" "r.(?)" "p.(His584Arg)" "" "0000521943" "00016885" "30" "1579" "-6" "1579" "-6" "c.1579-6T>C" "r.(=)" "p.(=)" "" "0000521944" "00016885" "10" "1579" "-16" "1579" "-16" "c.1579-16del" "r.(=)" "p.(=)" "" "0000521945" "00016885" "50" "1465" "0" "1467" "0" "c.1465_1467del" "r.(?)" "p.(Leu489del)" "" "0000521946" "00016885" "50" "1463" "0" "1463" "0" "c.1463G>C" "r.(?)" "p.(Gly488Ala)" "" "0000521947" "00016885" "50" "1135" "0" "1135" "0" "c.1135G>A" "r.(?)" "p.(Val379Ile)" "" "0000521949" "00016885" "10" "868" "0" "868" "0" "c.868A>C" "r.(?)" "p.(Ser290Arg)" "" "0000521950" "00016885" "50" "868" "0" "868" "0" "c.868A>C" "r.(?)" "p.(Ser290Arg)" "" "0000521951" "00016885" "10" "786" "0" "786" "0" "c.786G>A" "r.(?)" "p.(Ala262=)" "" "0000521953" "00016885" "10" "630" "10" "630" "10" "c.630+10A>G" "r.(=)" "p.(=)" "" "0000521954" "00016885" "50" "604" "0" "604" "0" "c.604C>G" "r.(?)" "p.(Arg202Gly)" "" "0000521958" "00016885" "30" "489" "0" "489" "0" "c.489G>A" "r.(?)" "p.(Leu163=)" "" "0000521959" "00016885" "50" "421" "0" "421" "0" "c.421G>A" "r.(?)" "p.(Gly141Arg)" "" "0000521960" "00016885" "50" "376" "0" "376" "0" "c.376G>A" "r.(?)" "p.(Val126Met)" "" "0000521961" "00016885" "10" "276" "15" "276" "15" "c.276+15G>A" "r.(=)" "p.(=)" "" "0000609102" "00016885" "10" "2374" "-6" "2374" "-6" "c.2374-6T>C" "r.(=)" "p.(=)" "" "0000609103" "00016885" "30" "2162" "0" "2162" "0" "c.2162A>G" "r.(?)" "p.(Asp721Gly)" "" "0000609104" "00016885" "30" "2077" "-513" "2077" "-513" "c.2077-513C>G" "r.(=)" "p.(=)" "" "0000609105" "00016885" "30" "1711" "0" "1711" "0" "c.1711G>A" "r.(?)" "p.(Gly571Ser)" "" "0000609106" "00016885" "90" "1414" "0" "1414" "0" "c.1414C>T" "r.(?)" "p.(Arg472Ter)" "" "0000609107" "00016885" "50" "1406" "0" "1406" "0" "c.1406C>T" "r.(?)" "p.(Pro469Leu)" "" "0000609108" "00016885" "50" "1151" "0" "1151" "0" "c.1151G>C" "r.(?)" "p.(Arg384Thr)" "" "0000609109" "00016885" "90" "1142" "-1" "1142" "-1" "c.1142-1G>A" "r.spl?" "p.?" "" "0000609110" "00016885" "50" "914" "0" "914" "0" "c.914C>T" "r.(?)" "p.(Pro305Leu)" "" "0000609111" "00016885" "90" "622" "0" "622" "0" "c.622del" "r.(?)" "p.(Thr208LeufsTer23)" "" "0000609112" "00016885" "90" "220" "1" "220" "1" "c.220+1G>T" "r.spl?" "p.?" "" "0000621370" "00016885" "30" "2281" "-8" "2281" "-8" "c.2281-8C>A" "r.(=)" "p.(=)" "" "0000651429" "00016885" "30" "1768" "-5" "1768" "-5" "c.1768-5C>T" "r.spl?" "p.?" "" "0000651430" "00016885" "30" "129" "0" "129" "0" "c.129C>T" "r.(=)" "p.(=)" "" "0000651431" "00016885" "30" "15" "0" "15" "0" "c.15C>T" "r.(=)" "p.(=)" "" "0000655117" "00016885" "50" "1960" "0" "1960" "0" "c.1960C>G" "r.(?)" "p.(Leu654Val)" "" "0000655118" "00016885" "30" "1345" "0" "1345" "0" "c.1345G>A" "r.(?)" "p.(Val449Met)" "" "0000655119" "00016885" "90" "1153" "0" "1153" "0" "c.1153del" "r.(?)" "p.(Val385SerfsTer2)" "" "0000655120" "00016885" "50" "430" "0" "430" "0" "c.430C>T" "r.(?)" "p.(His144Tyr)" "" "0000663574" "00016885" "50" "622" "0" "622" "0" "c.622del" "r.(?)" "p.(Thr208Leufs*23)" "" "0000669804" "00016885" "30" "1768" "-5" "1768" "-5" "c.1768-5C>T" "r.spl?" "p.?" "" "0000677223" "00016885" "50" "2458" "0" "2458" "0" "c.2458C>T" "r.(?)" "p.(Arg820Cys)" "" "0000677224" "00016885" "30" "1780" "0" "1780" "0" "c.1780A>C" "r.(?)" "p.(Ile594Leu)" "" "0000677225" "00016885" "30" "604" "0" "604" "0" "c.604C>G" "r.(?)" "p.(Arg202Gly)" "" "0000684398" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "10" "0000684399" "00016885" "70" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*13)" "12" "0000684400" "00016885" "70" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*13)" "12" "0000684401" "00016885" "70" "1984" "-1" "1984" "-1" "c.1984-1G>T" "r.spl" "p.?" "17i" "0000684402" "00016885" "70" "7" "0" "7" "0" "c.7dup" "r.(?)" "p.(Leu3Profs*28)" "1" "0000684410" "00016885" "70" "2383" "0" "2383" "0" "c.2383T>C" "r.(?)" "p.(Trp795Arg)" "23" "0000684430" "00016885" "70" "1454" "2" "1454" "2" "c.1454+2T>C" "r.spl" "p.?" "12i" "0000684433" "00016885" "70" "1579" "-1" "1579" "-1" "c.1579-1G>C" "r.spl" "p.?" "13i" "0000684678" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000685360" "00016885" "70" "2281" "-26" "2281" "-17" "c.2281-26_2281-17del" "r.spl" "p.?" "" "0000685361" "00016885" "90" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*13)" "" "0000685362" "00016885" "90" "1157" "0" "1157" "0" "c.1157T>A" "r.(?)" "p.(Leu386*)" "" "0000685840" "00016885" "90" "442" "0" "442" "0" "c.442A>T" "r.(?)" "p.(Lys148*)" "" "0000689252" "00016885" "30" "684" "0" "684" "0" "c.684A>G" "r.(?)" "p.(Thr228=)" "" "0000710320" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000710330" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000710799" "00016885" "70" "706" "0" "706" "0" "c.706G>A" "r.(?)" "p.(Val236Met)" "6" "0000711873" "00016885" "70" "706" "0" "706" "0" "c.706G>A" "r.(?)" "p.(Val236Met)" "" "0000713253" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000713293" "00016885" "90" "436" "0" "436" "0" "c.436C>T" "r.(?)" "p.(Arg146*)" "" "0000713546" "00016885" "90" "1177" "0" "1178" "0" "c.1177_1178del" "r.(?)" "p.(Ile393Argfs*21)" "" "0000713614" "00016885" "90" "1726" "0" "1726" "0" "c.1726C>T" "r.(?)" "p.(Gln576*)" "" "0000713641" "00016885" "90" "1557" "0" "1557" "0" "c.1557C>A" "r.(?)" "p.(Tyr519*)" "" "0000713646" "00016885" "90" "1579" "-1" "1579" "-1" "c.1579-1G>C" "r.spl?" "p.?" "" "0000713681" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000713835" "00016885" "90" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Arg244*)" "" "0000713871" "00016885" "90" "1710" "0" "1710" "0" "c.1710C>A" "r.(?)" "p.(Tyr570*)" "" "0000713885" "00016885" "90" "1002" "5" "1002" "5" "c.1002+5G>A" "r.spl?" "p.?" "" "0000713888" "00016885" "90" "1353" "0" "1354" "0" "c.1353_1354insT" "r.(?)" "p.(Tyr452Leufs*13)" "" "0000729792" "00016885" "90" "1612" "0" "1612" "0" "c.1612del" "r.(?)" "p.(Trp538Glyfs*15)" "" "0000729799" "00016885" "90" "2390" "0" "2390" "0" "c.2390dup" "r.(?)" "p.(Ile798Hisfs*20)" "" "0000730611" "00016885" "90" "436" "0" "436" "0" "c.436C>T" "r.(?)" "p.(Arg146*)" "4" "0000730612" "00016885" "90" "199" "0" "199" "0" "c.199C>T" "r.(?)" "p.(Gln67*)" "1" "0000730613" "00016885" "90" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*13)" "13" "0000730614" "00016885" "90" "1853" "0" "1853" "0" "c.1853T>G" "r.(?)" "p.(Leu618Arg)" "16" "0000730615" "00016885" "90" "1142" "-1" "1142" "-1" "c.1142-1G>A" "r.spl" "p.?" "10i" "0000730690" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "10" "0000730790" "00016885" "90" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*13)" "12" "0000731005" "00016885" "70" "2050" "0" "2050" "0" "c.2050C>T" "r.(?)" "p.(Arg684*)" "" "0000731024" "00016885" "70" "303" "1" "303" "1" "c.303+1G>A" "r.spl" "p.?" "" "0000731025" "00016885" "70" "1628" "0" "1629" "0" "c.1628_1629del" "r.(?)" "p.(Ser543Trpfs*5)" "" "0000731156" "00016885" "90" "2130" "2" "2130" "2" "c.2130+2del" "r.spl" "p.?" "" "0000731168" "00016885" "70" "784" "1" "784" "1" "c.784+1G>T" "r.spl" "p.?" "" "0000732390" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "10" "0000732391" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "10" "0000732392" "00016885" "90" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Gln372*)" "10" "0000732850" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000732938" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000732964" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000732965" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000733164" "00016885" "70" "622" "0" "622" "0" "c.622del" "r.(?)" "p.(Thr208Leufs*23)" "" "0000733165" "00016885" "70" "1002" "5" "1002" "5" "c.1002+5G>A" "r.spl" "p.?" "" "0000733603" "00016885" "70" "1683" "-2" "1683" "-2" "c.1683-2A>G" "r.spl" "p.?" "" "0000734345" "00016885" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000734346" "00016885" "70" "1078" "-2" "1078" "-2" "c.1078-2A>T" "r.spl" "p.?" "" "0000734394" "00016885" "70" "1911" "1" "1911" "1" "c.1911+1G>A" "r.spl" "p.?" "" "0000734395" "00016885" "70" "748" "0" "748" "0" "c.748del" "r.(?)" "p.(Ile250Serfs*24)" "" "0000734415" "00016885" "90" "1381" "0" "1381" "0" "c.1381dup" "r.(?)" "p.(Cys452Leufs*4)" "" "0000734693" "00016885" "70" "442" "0" "442" "0" "c.442A>T" "r.(?)" "p.(Lys148*)" "" "0000735177" "00016885" "50" "1946" "0" "1946" "0" "c.1946C>T" "r.(?)" "p.(Ser649Leu)" "" "0000735178" "00016885" "50" "1946" "0" "1946" "0" "c.1946C>T" "r.(?)" "p.(Ser649Leu)" "" "0000735646" "00016885" "90" "1462" "0" "1462" "0" "c.1462G>T" "r.(?)" "p.(Gly488*)" "" "0000735647" "00016885" "90" "2450" "0" "2450" "0" "c.2450A>G" "r.(?)" "p.(Lys817Arg)" "" "0000735648" "00016885" "90" "262" "0" "262" "0" "c.262dup" "r.(?)" "p.(Ile88Asnfs*2)" "" "0000735759" "00016885" "90" "1983" "5" "1983" "5" "c.1983+5G>T" "r.spl?" "p.?" "" "0000735760" "00016885" "90" "262" "0" "262" "0" "c.262dup" "r.(?)" "p.(Ile88Asnfs*2)" "" "0000735841" "00016885" "70" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "" "0000735861" "00016885" "70" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452LeufsTer13)" "" "0000735905" "00016885" "70" "1984" "-1" "1984" "-1" "c.1984-1G>T" "r.spl" "p.?" "" "0000735937" "00016885" "70" "1551" "0" "1551" "0" "c.1551A>G" "r.(?)" "p.(Glu517=)" "" "0000735938" "00016885" "70" "1584" "0" "1584" "0" "c.1584G>A" "r.(?)" "p.(Leu528=)" "" "0000736078" "00016885" "70" "485" "0" "485" "0" "c.485del" "r.(?)" "p.(Leu162Argfs*3)" "" "0000736125" "00016885" "70" "139" "0" "139" "0" "c.139del" "r.(?)" "p.(His47Ilefs*12)" "" "0000736351" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "12" "0000736352" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "12" "0000736353" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "12" "0000759944" "00016885" "90" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Gly127Glu)" "" "0000760004" "00016885" "50" "1142" "-1" "1142" "-1" "c.1142-1G>A" "r.spl" "p.?" "" "0000760167" "00016885" "50" "2309" "0" "2309" "0" "c.2309del" "r.(?)" "p.(Pro770Leufs*6)" "" "0000760174" "00016885" "50" "1141" "5" "1141" "5" "c.1141+5G>C" "r.spl" "p.?" "" "0000760175" "00016885" "70" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*13)" "" "0000760205" "00016885" "70" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*13)" "" "0000760237" "00016885" "50" "1632" "0" "1632" "0" "c.1632G>T" "r.(?)" "p.(Gly544=)" "" "0000760272" "00016885" "50" "1141" "1" "1141" "1" "c.1141+1G>A" "r.spl" "p.?" "" "0000760310" "00016885" "70" "1557" "0" "1557" "0" "c.1557C>A" "r.(?)" "p.(Tyr519*)" "" "0000760324" "00016885" "50" "694" "1" "694" "1" "c.694+1G>A" "r.spl" "p.?" "" "0000760427" "00016885" "70" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*13)" "" "0000760433" "00016885" "50" "1579" "-1" "1579" "-1" "c.1579-1G>C" "r.spl" "p.?" "" "0000760443" "00016885" "50" "694" "4" "694" "4" "c.694+4A>T" "r.spl" "p.?" "" "0000760461" "00016885" "50" "1697" "0" "1697" "0" "c.1697del" "r.(?)" "p.(Asn566Ilefs*29)" "" "0000760479" "00016885" "50" "1632" "0" "1632" "0" "c.1632G>T" "r.(?)" "p.(Gly544=)" "" "0000760491" "00016885" "70" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*13)" "" "0000760494" "00016885" "50" "1579" "-1" "1579" "-1" "c.1579-1G>C" "r.spl" "p.?" "" "0000760608" "00016885" "90" "1414" "0" "1414" "0" "c.1414C>T" "r.(?)" "p.(Arg472Ter)" "" "0000764027" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000764888" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000764889" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000764918" "00016885" "70" "2077" "-521" "2077" "-521" "c.2077-521A>G" "r.spl" "p.(Ser684Ilefs*21)" "" "0000764923" "00016885" "70" "1327" "0" "1327" "0" "c.1327dup" "r.(?)" "p.(Ser443PhefsTer22)" "" "0000764943" "00016885" "70" "1557" "0" "1557" "0" "c.1557C>A" "r.(?)" "p.(Tyr519Ter)" "" "0000765567" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000765759" "00016885" "70" "2130" "2" "2130" "2" "c.2130+2del" "r.spl" "p.?" "" "0000765855" "00016885" "70" "604" "0" "604" "0" "c.604C>G" "r.(?)" "p.(Arg202Gly)" "" "0000765924" "00016885" "70" "2130" "2" "2130" "2" "c.2130+2del" "r.spl" "p.?" "" "0000784135" "00016885" "70" "868" "0" "868" "0" "c.868A>C" "r.(?)" "p.(Ser290Arg)" "" "0000784221" "00016885" "90" "139" "0" "139" "0" "c.139del" "r.(?)" "p.(His47IlefsTer12)" "" "0000784241" "00016885" "70" "2461" "0" "2461" "0" "c.2461C>T" "r.(?)" "p.(Arg821Ter)" "" "0000784252" "00016885" "70" "139" "0" "139" "0" "c.139del" "r.(?)" "p.(His47IlefsTer12)" "" "0000784333" "00016885" "70" "868" "0" "868" "0" "c.868A>C" "r.(?)" "p.(Ser290Arg)" "" "0000784355" "00016885" "70" "868" "0" "868" "0" "c.868A>C" "r.(?)" "p.(Ser290Arg)" "" "0000784356" "00016885" "70" "2572" "0" "2572" "0" "c.2572G>T" "r.(?)" "p.(Val858Phe)" "" "0000784369" "00016885" "70" "868" "0" "868" "0" "c.868A>C" "r.(?)" "p.(Ser290Arg)" "" "0000784372" "00016885" "70" "868" "0" "868" "0" "c.868A>C" "r.(?)" "p.(Ser290Arg)" "" "0000784390" "00016885" "70" "868" "0" "868" "0" "c.868A>C" "r.(?)" "p.(Ser290Arg)" "" "0000784425" "00016885" "50" "1077" "6" "1077" "6" "c.1077+6C>G" "r.(=)" "p.(=)" "" "0000784462" "00016885" "50" "1215" "0" "1215" "0" "c.1215A>G" "r.(?)" "p.(Ile405Met)" "" "0000784472" "00016885" "50" "2489" "118" "2489" "118" "c.2489+118dup" "r.(=)" "p.(=)" "" "0000784509" "00016885" "50" "2490" "-4" "2490" "-4" "c.2490-4A>G" "r.(=)" "p.(=)" "" "0000784561" "00016885" "50" "2489" "121" "2489" "121" "c.2489+121T>G" "r.(=)" "p.(=)" "" "0000784571" "00016885" "50" "970" "0" "970" "0" "c.970A>G" "r.(?)" "p.(Ser324Gly)" "" "0000784587" "00016885" "90" "1238" "0" "1238" "0" "c.1238T>A" "r.(?)" "p.(Val413Asp)" "" "0000785554" "00016885" "90" "1645" "0" "1648" "0" "c.1645_1648del" "r.(?)" "p.(Lys549GlnfsTer3)" "" "0000785555" "00016885" "90" "1645" "0" "1648" "0" "c.1645_1648del" "r.(?)" "p.(Lys549GlnfsTer3)" "" "0000785556" "00016885" "90" "1645" "0" "1648" "0" "c.1645_1648del" "r.(?)" "p.(Lys549GlnfsTer3)" "" "0000785603" "00016885" "90" "980" "0" "980" "0" "c.980A>G" "r.(?)" "p.(Asn327Ser)" "" "0000785604" "00016885" "90" "2466" "0" "2466" "0" "c.2466G>A" "r.(?)" "p.(Met822Ile)" "" "0000785608" "00016885" "90" "277" "-1" "277" "-1" "c.277-1G>A" "r.spl" "p.?" "" "0000786354" "00016885" "90" "1355" "0" "1356" "0" "c.1355_1356insT" "r.(?)" "p.(Tyr453LeufsTer12)" "" "0000786392" "00016885" "90" "622" "0" "622" "0" "c.622delA" "r.(?)" "p.(Thr208LeufsTer23)" "" "0000786412" "00016885" "90" "1157" "0" "1157" "0" "c.1157T>A" "r.(?)" "p.(Leu386Ter)" "" "0000786415" "00016885" "90" "1157" "0" "1157" "0" "c.1157T>A" "r.(?)" "p.(Leu386Ter)" "" "0000786453" "00016885" "90" "181" "0" "181" "0" "c.181A>G" "r.(?)" "p.(Ile61Val)" "" "0000787645" "00016885" "70" "1824" "0" "1824" "0" "c.1824del" "r.(?)" "p.(Leu609CysfsTer18)" "" "0000787663" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000787691" "00016885" "70" "436" "0" "436" "0" "c.436C>T" "r.(?)" "p.(Arg146Ter)" "" "0000787692" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000787728" "00016885" "70" "1229" "0" "1230" "0" "c.1229_1230del" "r.(?)" "p.(Ser410CysfsTer4)" "" "0000788365" "00016885" "50" "1195" "0" "1195" "0" "c.1195C>T" "r.(?)" "p.(Arg399Cys)" "11" "0000788451" "00016885" "50" "1199" "0" "1199" "0" "c.1199T>C" "r.(?)" "p.(Leu400Pro)" "11" "0000788528" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000789910" "00016885" "90" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Arg244*)" "6" "0000789911" "00016885" "90" "1983" "1" "1983" "1" "c.1983+1G>T" "r.spl" "p.?" "17i" "0000790629" "00016885" "50" "55" "0" "55" "0" "c.55T>G" "r.(?)" "p.(Ser19Ala)" "" "0000790662" "00016885" "50" "2051" "0" "2051" "0" "c.2051G>C" "r.(?)" "p.(Arg684Pro)" "" "0000790686" "00016885" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000791223" "00016885" "90" "1142" "-1" "1142" "-1" "c.1142-1G>A" "r.spl" "p.(?)" "12i" "0000791226" "00016885" "90" "1612" "0" "1612" "0" "c.1612del" "r.spl?" "p.(Trp538Glyfs*15)" "16" "0000791227" "00016885" "90" "1612" "0" "1612" "0" "c.1612del" "r.spl?" "p.(Trp538Glyfs*15)" "16" "0000791232" "00016885" "90" "1697" "0" "1697" "0" "c.1697dup" "r.(?)" "p.(Asn566Lysfs*2)" "17" "0000791240" "00016885" "90" "1697" "0" "1697" "0" "c.1697dup" "r.(?)" "p.(Asn566Lysfs*2)" "17" "0000791261" "00016885" "90" "439" "0" "439" "0" "c.439C>T" "r.spl?" "p.(Gln147*)" "6" "0000791444" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "12" "0000791912" "00016885" "10" "1302" "3" "1302" "3" "c.1302+3C>T" "r.spl?" "p.?" "11" "0000792023" "00016885" "30" "1946" "0" "1946" "0" "c.1946C>T" "r.(?)" "p.(Ala649Val)" "16" "0000792027" "00016885" "50" "1142" "-1" "1142" "-1" "c.1142-1G>A" "r.spl?" "p.?" "9i" "0000792028" "00016885" "50" "1142" "-1" "1142" "-1" "c.1142-1G>A" "r.spl?" "p.?" "9i" "0000792265" "00016885" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "3" "0000792348" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000793951" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "10" "0000793956" "00016885" "70" "1726" "0" "1726" "0" "c.1726C>T" "r.(?)" "p.(Gln576*)" "14" "0000794232" "00016885" "70" "1877" "0" "1878" "0" "c.1877_1878del" "r.(?)" "p.(Ile626Argfs*6)" "" "0000794236" "00016885" "70" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Gln398*)" "" "0000794356" "00016885" "90" "1414" "0" "1414" "0" "c.1414C>T" "r.(?)" "p.(Arg472*)" "12" "0000794705" "00016885" "70" "1345" "0" "1345" "0" "c.1345G>A" "r.(?)" "p.(Val449Met)" "" "0000794706" "00016885" "70" "155" "0" "155" "0" "c.155T>C" "r.(?)" "p.(Ile52Thr)" "" "0000794720" "00016885" "70" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*13)" "" "0000795785" "00016885" "70" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*13)" "" "0000795933" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "10" "0000795948" "00016885" "90" "2373" "5" "2373" "5" "c.2373+5G>T" "r.spl?" "p.?" "22i" "0000796733" "00016885" "90" "1209" "0" "1229" "0" "c.1209_1229del" "r.(?)" "p.(Val404_Tyr410del)" "10" "0000796735" "00016885" "90" "642" "0" "642" "0" "c.642T>A" "r.(?)" "p.(Tyr214*)" "5" "0000796823" "00016885" "70" "2094" "0" "2094" "0" "c.2094C>A" "r.(?)" "p.(Ser698Arg)" "18" "0000796892" "00016885" "90" "510" "-1" "510" "-1" "c.510-1G>A" "r.(?)" "p.?" "3i" "0000796893" "00016885" "90" "2011" "0" "2011" "0" "c.2011A>T" "r.(?)" "p.(Ile671Phe)" "17" "0000796897" "00016885" "90" "1354" "0" "1355" "0" "c.1354_1355insT" "r.(?)" "p.(Cys452Leufs*4)" "11" "0000796898" "00016885" "90" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Leu244Phe)" "6" "0000797100" "00016885" "90" "1853" "0" "1853" "0" "c.1853T>G" "r.(?)" "p.(Leu618Arg)" "16" "0000797194" "00016885" "50" "1209" "0" "1229" "0" "c.1209_1229del" "r.(?)" "p.(Gln403_Ser410delinsHis)" "" "0000797419" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000797620" "00016885" "70" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*13)" "" "0000797727" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000797730" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000797731" "00016885" "70" "630" "2" "630" "2" "c.630+2T>A" "r.spl" "p.(?)" "" "0000797732" "00016885" "70" "2461" "0" "2461" "0" "c.2461C>T" "r.(?)" "p.(Arg821*)" "" "0000797733" "00016885" "70" "630" "2" "630" "2" "c.630+2T>A" "r.spl" "p.(?)" "" "0000797735" "00016885" "70" "2461" "0" "2461" "0" "c.2461C>T" "r.(?)" "p.(Arg821*)" "" "0000797842" "00016885" "70" "1355" "0" "1355" "0" "c.1355dup" "r.(?)" "p.(Tyr452*)" "" "0000797869" "00016885" "70" "2490" "-2" "2490" "-2" "c.2490-2A>G" "r.spl" "p.(?)" "" "0000798047" "00016885" "50" "2110" "0" "2110" "0" "c.2110C>T" "r.(?)" "p.(Arg704Cys)" "" "0000798048" "00016885" "50" "1911" "8" "1911" "8" "c.1911+8G>A" "r.spl?" "p.(?)" "" "0000798430" "00016885" "70" "1557" "0" "1557" "0" "c.1557C>A" "r.(?)" "p.(Tyr519*)" "13" "0000798491" "00016885" "90" "1157" "0" "1157" "0" "c.1157T>A" "r.(?)" "p.(Leu386*)" "10" "0000801560" "00016885" "30" "2583" "-17" "2583" "-17" "c.2583-17del" "r.(=)" "p.(=)" "" "0000801561" "00016885" "70" "2211" "2" "2211" "2" "c.2211+2T>C" "r.spl?" "p.?" "" "0000801562" "00016885" "30" "1977" "0" "1977" "0" "c.1977C>T" "r.(?)" "p.(Asn659=)" "" "0000801563" "00016885" "30" "1579" "-6" "1579" "-6" "c.1579-6T>C" "r.(=)" "p.(=)" "" "0000801564" "00016885" "50" "1577" "0" "1577" "0" "c.1577G>A" "r.(?)" "p.(Arg526Gln)" "" "0000801565" "00016885" "50" "1054" "0" "1054" "0" "c.1054G>C" "r.(?)" "p.(Asp352His)" "" "0000801566" "00016885" "30" "678" "0" "678" "0" "c.678G>A" "r.(?)" "p.(Ala226=)" "" "0000811200" "00016885" "75" "400" "0" "400" "0" "c.400C>T" "r.(?)" "p.(Arg134Cys)" "" "0000811499" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000811720" "00016885" "50" "437" "0" "437" "0" "c.437G>A" "r.(?)" "p.(Arg146Gln)" "4" "0000811721" "00016885" "50" "1472" "0" "1472" "0" "c.1472T>C" "r.(?)" "p.(Phe491Ser)" "13" "0000811722" "00016885" "70" "622" "0" "622" "0" "c.622del" "r.(?)" "p.(Thr208LeufsTer23)" "5" "0000811723" "00016885" "70" "630" "1" "630" "1" "c.630+1G>A" "r.spl" "p.(?)" "5i" "0000811724" "00016885" "70" "1984" "-1" "1984" "-1" "c.1984-1G>T" "r.spl" "p.(?)" "17i" "0000811725" "00016885" "70" "303" "1" "303" "1" "c.303+1G>A" "r.spl" "p.(?)" "3i" "0000811726" "00016885" "90" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452LeufsTer13)" "12" "0000811727" "00016885" "70" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452LeufsTer13)" "12" "0000811728" "00016885" "70" "630" "1" "630" "1" "c.630+1G>A" "r.spl" "p.(?)" "5i" "0000811729" "00016885" "70" "1414" "0" "1414" "0" "c.1414del" "r.(?)" "p.(Arg472GlufsTer18)" "12" "0000811730" "00016885" "70" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452LeufsTer13)" "12" "0000811731" "00016885" "70" "1984" "-1" "1984" "-1" "c.1984-1G>T" "r.spl" "p.(?)" "17i" "0000811732" "00016885" "70" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452LeufsTer13)" "12" "0000811733" "00016885" "70" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452LeufsTer13)" "12" "0000811734" "00016885" "70" "2130" "2" "2130" "2" "c.2130+2del" "r.spl" "p.(?)" "19i" "0000811735" "00016885" "70" "1984" "-1" "1984" "-1" "c.1984-1G>T" "r.spl" "p.(?)" "17i" "0000811736" "00016885" "50" "314" "0" "314" "0" "c.314A>G" "r.(?)" "p.(Tyr105Cys)" "4" "0000811737" "00016885" "70" "303" "1" "303" "1" "c.303+1G>A" "r.spl" "p.(?)" "3i" "0000811738" "00016885" "70" "630" "1" "630" "1" "c.630+1G>A" "r.spl" "p.(?)" "5i" "0000811739" "00016885" "70" "630" "1" "630" "1" "c.630+1G>A" "r.spl" "p.(?)" "5i" "0000811740" "00016885" "70" "303" "1" "303" "1" "c.303+1G>A" "r.spl" "p.(?)" "3i" "0000811741" "00016885" "50" "604" "0" "604" "0" "c.604C>G" "r.(?)" "p.(Arg202Gly)" "5" "0000811742" "00016885" "70" "869" "0" "869" "0" "c.869del" "r.(?)" "p.(Ser290IlefsTer2)" "8" "0000811743" "00016885" "70" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452LeufsTer13)" "12" "0000811744" "00016885" "70" "303" "2" "303" "2" "c.303+2T>C" "r.spl" "p.(?)" "3i" "0000811745" "00016885" "70" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452LeufsTer13)" "12" "0000811746" "00016885" "70" "1709" "0" "1710" "0" "c.1709_1710insAA" "r.(?)" "p.(Tyr570Ter)" "15" "0000811747" "00016885" "90" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452LeufsTer13)" "12" "0000811748" "00016885" "50" "604" "0" "604" "0" "c.604C>G" "r.(?)" "p.(Arg202Gly)" "5" "0000811750" "00016885" "70" "1435" "0" "1435" "0" "c.1435G>A" "r.(?)" "p.(Gly479Arg)" "12" "0000811751" "00016885" "70" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452LeufsTer13)" "12" "0000811752" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "10" "0000811753" "00016885" "50" "2408" "0" "2408" "0" "c.2408T>C" "r.(?)" "p.(Val803Ala)" "23" "0000811755" "00016885" "70" "2490" "-2" "2490" "-2" "c.2490-2A>G" "r.spl" "p.(?)" "23i" "0000811758" "00016885" "70" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452LeufsTer13)" "12" "0000811759" "00016885" "90" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452LeufsTer13)" "12" "0000811760" "00016885" "70" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452LeufsTer13)" "12" "0000811844" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000811845" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000811957" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000811962" "00016885" "70" "303" "1" "303" "1" "c.303+1G>A" "r.spl" "p.(?)" "" "0000811963" "00016885" "70" "303" "2" "303" "2" "c.303+2T>C" "r.spl" "p.(?)" "" "0000811964" "00016885" "70" "400" "0" "400" "0" "c.400C>T" "r.(?)" "p.(Arg134Cys)" "" "0000811967" "00016885" "70" "1157" "0" "1157" "0" "c.1157T>A" "r.(?)" "p.(Leu386*)" "" "0000811968" "00016885" "70" "1557" "0" "1557" "0" "c.1557C>A" "r.(?)" "p.(Tyr519*)" "" "0000812042" "00016885" "70" "869" "0" "869" "0" "c.869del" "r.(?)" "p.(Ser290Ilefs*2)" "8" "0000812043" "00016885" "70" "1177" "0" "1178" "0" "c.1177_1178del" "r.(?)" "p.(Ile393Argfs*21)" "11" "0000812071" "00016885" "70" "303" "2" "303" "2" "c.303+2T>C" "r.(?)" "p.(?)" "3i" "0000812221" "00016885" "70" "1435" "0" "1435" "0" "c.1435G>A" "r.(?)" "p.(Gly479Arg)" "12" "0000812232" "00016885" "70" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*13)" "12" "0000812437" "00016885" "70" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*13)" "12" "0000812475" "00016885" "70" "2461" "0" "2461" "0" "c.2461C>T" "r.(?)" "p.(Arg821*)" "25" "0000812747" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000812766" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000813188" "00016885" "70" "1532" "0" "1532" "0" "c.1532C>A" "r.(?)" "p.(Thr511Lys)" "12" "0000813212" "00016885" "30" "55" "0" "55" "0" "c.55T>G" "r.(?)" "p.(Ser19Ala)" "1" "0000813213" "00016885" "30" "1470" "0" "1470" "0" "c.1470C>T" "r.(=)" "p.(=)" "12" "0000813214" "00016885" "30" "1741" "-5" "1741" "-5" "c.1741-5C>T" "r.spl?" "p.?" "14" "0000813215" "00016885" "30" "2050" "-15" "2050" "-15" "c.2050-15T>C" "r.(=)" "p.(=)" "17" "0000813216" "00016885" "30" "2347" "-3" "2347" "-3" "c.2347-3T>C" "r.spl?" "p.?" "21" "0000813665" "00016885" "90" "1709" "0" "1709" "0" "c.1709dupA" "r.(?)" "p.(Tyr570*)" "" "0000813899" "00016885" "70" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*13)" "" "0000814603" "00016885" "70" "1984" "-1" "1984" "-1" "c.1984-1G>T" "r.spl?" "p.?" "16i" "0000815401" "00016885" "90" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*13)" "" "0000815402" "00016885" "90" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*13)" "" "0000815403" "00016885" "90" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*13)" "" "0000815593" "00016885" "90" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*13)" "" "0000815620" "00016885" "50" "2020" "0" "2020" "0" "c.2020G>T" "r.(?)" "p.(Ala674Ser)" "" "0000816043" "00016885" "70" "1579" "-2" "1579" "-2" "c.1579-2A>T" "r.spl" "p.(?)" "" "0000816256" "00016885" "50" "1557" "0" "1557" "0" "c.1557C>A" "r.(?)" "p.(Tyr519*)" "" "0000816279" "00016885" "50" "0" "0" "0" "0" "c.?" "r.spl" "p.(?)" "" "0000816378" "00016885" "50" "1077" "0" "1077" "0" "c.1077G>A" "r.(?)" "p.(Gln359=)" "" "0000816759" "00016885" "70" "223" "0" "223" "0" "c.223A>G" "r.(?)" "p.(Thr75Ala)" "" "0000816845" "00016885" "70" "718" "0" "718" "0" "c.718G>A" "r.(?)" "p.(Gly240Arg)" "" "0000817492" "00016885" "50" "376" "0" "376" "0" "c.376G>A" "r.(?)" "p.(Val292Met)" "3" "0000819050" "00016885" "90" "1414" "0" "1414" "0" "c.1414delC" "r.(?)" "p.(Arg472Glufs*18)" "" "0000819880" "00016885" "70" "1767" "4" "1767" "4" "c.1767+4A>G" "r.spl?" "p.(?)" "" "0000819944" "00016885" "70" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*13)" "" "0000820026" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000820123" "00016885" "70" "1557" "0" "1557" "0" "c.1557C>A" "r.(?)" "p.(Tyr519*)" "" "0000820149" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000820164" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000820165" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000820182" "00016885" "70" "1142" "-1" "1142" "-1" "c.1142-1G>A" "r.spl" "p.(?)" "" "0000820186" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000820330" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000820352" "00016885" "70" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*13)" "" "0000820356" "00016885" "70" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*13)" "" "0000820360" "00016885" "70" "1142" "-1" "1142" "-1" "c.1142-1G>A" "r.spl" "p.(?)" "" "0000820361" "00016885" "70" "1142" "-1" "1142" "-1" "c.1142-1G>A" "r.spl" "p.(?)" "" "0000820362" "00016885" "70" "1142" "-1" "1142" "-1" "c.1142-1G>A" "r.spl" "p.(?)" "" "0000820366" "00016885" "70" "1142" "-1" "1142" "-1" "c.1142-1G>A" "r.spl" "p.(?)" "" "0000820367" "00016885" "70" "1142" "-1" "1142" "-1" "c.1142-1G>A" "r.spl" "p.(?)" "" "0000820379" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000820380" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000820381" "00016885" "70" "1632" "0" "1632" "0" "c.1632G>T" "r.(?)" "p.(Gly544=)" "" "0000820382" "00016885" "70" "1632" "0" "1632" "0" "c.1632G>T" "r.(?)" "p.(Gly544=)" "" "0000820418" "00016885" "70" "2050" "0" "2050" "0" "c.2050C>T" "r.(?)" "p.(Arg684*)" "" "0000820419" "00016885" "70" "2211" "1" "2211" "1" "c.2211+1G>A" "r.spl" "p.(?)" "" "0000820420" "00016885" "70" "2211" "1" "2211" "1" "c.2211+1G>A" "r.spl" "p.(?)" "" "0000820429" "00016885" "70" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*13)" "" "0000820550" "00016885" "70" "2414" "0" "2414" "0" "c.2414dup" "r.(?)" "p.(Leu805Phefs*13)" "" "0000820747" "00016885" "70" "1697" "0" "1697" "0" "c.1697del" "r.(?)" "p.(Asn566Ilefs*29)" "" "0000820818" "00016885" "70" "1578" "1" "1578" "1" "c.1578+1G>A" "r.spl" "p.(?)" "" "0000820878" "00016885" "70" "2414" "0" "2414" "0" "c.2414dup" "r.(?)" "p.(Leu805Phefs*13)" "" "0000820882" "00016885" "70" "642" "0" "642" "0" "c.642T>A" "r.(?)" "p.(Tyr214*)" "" "0000820887" "00016885" "70" "1946" "0" "1946" "0" "c.1946C>T" "r.(?)" "p.(Ser649Leu)" "" "0000820888" "00016885" "70" "1946" "0" "1946" "0" "c.1946C>T" "r.(?)" "p.(Ser649Leu)" "" "0000820908" "00016885" "70" "1301" "2" "1301" "2" "c.1301+2T>C" "r.spl" "p.(?)" "" "0000820909" "00016885" "70" "1301" "2" "1301" "2" "c.1301+2T>C" "r.spl" "p.(?)" "" "0000820995" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000821334" "00016885" "70" "1177" "0" "1178" "0" "c.1177_1178del" "r.(?)" "p.(Ile393Argfs*21)" "" "0000821335" "00016885" "70" "1579" "-1" "1579" "-1" "c.1579-1G>C" "r.spl" "p.(?)" "" "0000821336" "00016885" "70" "1710" "0" "1710" "0" "c.1710C>A" "r.(?)" "p.(Tyr570*)" "" "0000821337" "00016885" "70" "1002" "5" "1002" "5" "c.1002+5G>A" "r.spl?" "p.(?)" "" "0000821338" "00016885" "90" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*13)" "" "0000821339" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000821593" "00016885" "90" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Arg244*)" "" "0000821594" "00016885" "90" "1726" "0" "1726" "0" "c.1726C>T" "r.(?)" "p.(Gln576*)" "" "0000821595" "00016885" "90" "1557" "0" "1557" "0" "c.1557C>A" "r.(?)" "p.(Tyr519*)" "" "0000821596" "00016885" "90" "1579" "-1" "1579" "-1" "c.1579-1G>C" "r.spl" "p.(?)" "" "0000822257" "00016885" "70" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Cys127Tyr)" "3" "0000822258" "00016885" "70" "380" "0" "380" "0" "c.380G>A" "r.(?)" "p.(Cys127Tyr)" "3" "0000822348" "00016885" "70" "1142" "-1" "1142" "-1" "c.1142-1G>A" "r.spl?" "p.?" "9i" "0000822349" "00016885" "70" "1142" "-1" "1142" "-1" "c.1142-1G>A" "r.spl?" "p.?" "9i" "0000822377" "00016885" "70" "2476" "0" "2476" "0" "c.2476G>C" "r.(?)" "p.(Asp826His)" "23" "0000822378" "00016885" "70" "2476" "0" "2476" "0" "c.2476G>C" "r.(?)" "p.(Asp826His)" "23" "0000822448" "00016885" "70" "1142" "-1" "1142" "-1" "c.1142-1G>A" "r.spl?" "p.?" "9i" "0000822449" "00016885" "70" "1142" "-1" "1142" "-1" "c.1142-1G>A" "r.spl?" "p.?" "9i" "0000822713" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "10" "0000822714" "00016885" "70" "436" "0" "436" "0" "c.436C>T" "r.(?)" "p.(Arg146*)" "4,12" "0000822715" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "10" "0000822753" "00016885" "70" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*13)" "4,12" "0000822950" "00016885" "70" "1557" "0" "1557" "0" "c.1557C>G" "r.(?)" "p.(Tyr519*)" "" "0000823241" "00016885" "50" "1214" "0" "1215" "0" "c.1214_1215del" "r.(?)" "p.(Ile405Thrfs*9)" "" "0000823242" "00016885" "50" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*13)" "" "0000823281" "00016885" "50" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*13)" "" "0000825491" "00016885" "50" "1196" "0" "1196" "0" "c.1196G>A" "r.(?)" "p.(Arg399His)" "" "0000825520" "00016885" "50" "857" "0" "857" "0" "c.857A>G" "r.(?)" "p.(Gln286Arg)" "" "0000825521" "00016885" "50" "868" "0" "868" "0" "c.868A>C" "r.(?)" "p.(Ser290Arg)" "" "0000825573" "00016885" "50" "1520" "0" "1520" "0" "c.1520T>A" "r.(?)" "p.(Phe507Tyr)" "" "0000826129" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.?" "p.(Arg373Cys)" "10" "0000826189" "00016885" "70" "139" "0" "139" "0" "c.139del" "r.(?)" "p.(His47Ilefs*12)" "1" "0000826190" "00016885" "70" "1238" "0" "1238" "0" "c.1238T>A" "r.?" "p.(Val413Asp)" "10" "0000826341" "00016885" "70" "139" "0" "139" "0" "c.139del" "r.(?)" "p.(His47Ilefs*12)" "1" "0000826342" "00016885" "70" "1683" "-1" "2582" "1" "c.1683-1_2582+1dup" "r.(?)" "p.?" "13i_24i" "0000828750" "00016885" "50" "631" "-15" "631" "-10" "c.631-15_631-10del" "r.spl?" "p.(?)" "" "0000828761" "00016885" "90" "139" "0" "139" "0" "c.139del" "r.(?)" "p.(His47Ilefs*12)" "" "0000828890" "00016885" "70" "303" "0" "303" "0" "c.303G>C" "r.(?)" "p.(Lys101Asn)" "" "0000828891" "00016885" "50" "199" "0" "199" "0" "c.199C>G" "r.(?)" "p.(Gln67Glu)" "" "0000828925" "00016885" "90" "139" "0" "139" "0" "c.139del" "r.(?)" "p.(His47Ilefs*12)" "" "0000828955" "00016885" "90" "139" "0" "139" "0" "c.139del" "r.(?)" "p.(His47Ilefs*12)" "" "0000828966" "00016885" "90" "242" "0" "242" "0" "c.242dup" "r.(?)" "p.(Lys82Glufs*4)" "" "0000829713" "00016885" "90" "1726" "0" "1726" "0" "c.1726C>T" "r.(?)" "p.(Gln576Ter)" "" "0000829767" "00016885" "70" "1579" "-1" "1911" "1" "c.(1578+1_1579-1)_(1911+1_1912-1)del" "r.?" "p.?" "" "0000844295" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000845511" "00016885" "50" "55" "0" "55" "0" "c.55T>A" "r.(?)" "p.(Ser19Thr)" "1" "0000846852" "00016885" "90" "1354" "0" "1354" "0" "c.1354dup" "r.(1354dup)" "p.(Tyr452Leufs*13)" "" "0000846853" "00016885" "90" "1984" "-1" "1984" "-1" "c.1984-1G>T" "r.spl" "p.?" "" "0000850561" "00016885" "50" "2546" "0" "2546" "0" "c.2546A>T" "r.(?)" "p.(Asp849Val)" "" "0000850562" "00016885" "90" "1699" "0" "1699" "0" "c.1699dup" "r.(?)" "p.(Arg567Lysfs*17)" "" "0000850563" "00016885" "50" "1697" "0" "1697" "0" "c.1697A>T" "r.(?)" "p.(Asn566Ile)" "" "0000850564" "00016885" "90" "1414" "0" "1414" "0" "c.1414C>T" "r.(?)" "p.(Arg472Ter)" "" "0000850565" "00016885" "70" "1301" "2" "1301" "2" "c.1301+2T>C" "r.spl?" "p.?" "" "0000859276" "00016885" "70" "2373" "1" "2373" "1" "c.2373+1G>A" "r.spl?" "p.?" "" "0000859277" "00016885" "50" "1767" "6" "1767" "6" "c.1767+6T>G" "r.(=)" "p.(=)" "" "0000859278" "00016885" "30" "1767" "5" "1767" "5" "c.1767+5T>G" "r.spl?" "p.?" "" "0000859279" "00016885" "30" "1320" "0" "1320" "0" "c.1320C>T" "r.(?)" "p.(Val440=)" "" "0000859280" "00016885" "90" "1302" "0" "1302" "0" "c.1302G>A" "r.(?)" "p.(Trp434Ter)" "" "0000859281" "00016885" "30" "762" "0" "762" "0" "c.762T>G" "r.(?)" "p.(Asp254Glu)" "" "0000859282" "00016885" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Pro152Ser)" "" "0000859283" "00016885" "30" "152" "0" "152" "0" "c.152C>T" "r.(?)" "p.(Pro51Leu)" "" "0000868801" "00016885" "70" "869" "0" "869" "0" "c.869del" "r.(?)" "p.(Ser290Ilefs*2)" "8" "0000868802" "00016885" "70" "869" "0" "869" "0" "c.869del" "r.(?)" "p.(Ser290Ilefs*2)" "8" "0000868803" "00016885" "70" "869" "0" "869" "0" "c.869del" "r.(?)" "p.(Ser290Ilefs*2)" "8" "0000868840" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "8" "0000868841" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "8" "0000868842" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "8" "0000868843" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "8" "0000868844" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "8" "0000868845" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "8" "0000868846" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "8" "0000868847" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "8" "0000868848" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "8" "0000868849" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "8" "0000868856" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "8" "0000868857" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "8" "0000868858" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "8" "0000868859" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "8" "0000868860" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "8" "0000868861" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "8" "0000868862" "00016885" "70" "1697" "0" "1697" "0" "c.1697dup" "r.(?)" "p.(Asn566Lysfs*2)" "" "0000868863" "00016885" "90" "2077" "-521" "2077" "-521" "c.2077-521A>G" "r.2076_2077ins2077-676_2077-522" "p.(Leu692_Ser693ins*23)" "19i" "0000868864" "00016885" "90" "2077" "-521" "2077" "-521" "c.2077-521A>G" "r.2076_2077ins2077-676_2077-522" "p.(Leu692_Ser693ins*23)" "19i" "0000868865" "00016885" "70" "1445" "0" "1445" "0" "c.1445dup" "r.(?)" "p.(Leu483Profs*35)" "12" "0000868866" "00016885" "70" "1445" "0" "1445" "0" "c.1445dup" "r.(?)" "p.(Leu483Profs*35)" "12" "0000868869" "00016885" "90" "2281" "-20" "2281" "-11" "c.2281-20_2281-11del" "r.(?)" "p.?" "21i" "0000868870" "00016885" "90" "2281" "-20" "2281" "-11" "c.2281-20_2281-11del" "r.(?)" "p.?" "21i" "0000868871" "00016885" "90" "2281" "-20" "2281" "-11" "c.2281-20_2281-11del" "r.(?)" "p.?" "21i" "0000868872" "00016885" "90" "1960" "0" "1960" "0" "c.1960C>G" "r.(?)" "p.(Leu654Val)" "21i" "0000868873" "00016885" "70" "2327" "0" "2327" "0" "c.2327A>T" "r.(?)" "p.(Asp776Val)" "21i" "0000868874" "00016885" "70" "2485" "0" "2485" "0" "c.2485G>A" "r.(?)" "p.(Asp829Asn)" "21i" "0000868875" "00016885" "70" "1928" "0" "1928" "0" "c.1928C>G" "r.(?)" "p.(Ala643Gly)" "21i" "0000868877" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "8" "0000868953" "00016885" "70" "734" "0" "734" "0" "c.734T>C" "r.(?)" "p.(Leu245Pro)" "7" "0000868954" "00016885" "70" "734" "0" "734" "0" "c.734T>C" "r.(?)" "p.(Leu245Pro)" "7" "0000868955" "00016885" "70" "734" "0" "734" "0" "c.734T>C" "r.(?)" "p.(Leu245Pro)" "7" "0000868956" "00016885" "70" "734" "0" "734" "0" "c.734T>C" "r.(?)" "p.(Leu245Pro)" "7" "0000868957" "00016885" "70" "734" "0" "734" "0" "c.734T>C" "r.(?)" "p.(Leu245Pro)" "7" "0000868958" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000868959" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000868960" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000868961" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000868962" "00016885" "70" "1354" "0" "1355" "0" "c.1354_1355insT" "r.(?)" "p.(Tyr452Leufs*13)" "" "0000868963" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000868964" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000868965" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000868966" "00016885" "70" "1697" "0" "1697" "0" "c.1697delA" "r.(?)" "p.(Asn566Ilefs*29)" "" "0000868967" "00016885" "70" "963" "0" "963" "0" "c.963G>T" "r.(?)" "p.(Leu321Phe)" "" "0000868968" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000868969" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000868970" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000868971" "00016885" "70" "" "0" "" "0" "c.436>T" "r.(?)" "p.(Arg146*)" "" "0000868972" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000868973" "00016885" "70" "" "0" "" "0" "c.630_c.630+8del" "r.(?)" "p.?" "" "0000868974" "00016885" "70" "1767" "4" "1767" "4" "c.1767+4A>G" "r.(?)" "p.?" "" "0000868975" "00016885" "70" "1354" "0" "1354" "0" "c.1354dupT" "r.(?)" "p.(Tyr452Leufs*13)" "" "0000868980" "00016885" "70" "1902" "0" "1902" "0" "c.1902C>G" "r.(?)" "p.(Tyr634*)" "" "0000868981" "00016885" "70" "1682" "3" "1682" "3" "c.1682+3A>G" "r.(?)" "p.?" "" "0000868982" "00016885" "70" "1902" "0" "1902" "0" "c.1902C>G" "r.(?)" "p.(Tyr634*)" "" "0000868983" "00016885" "70" "1682" "3" "1682" "3" "c.1682+3A>G" "r.(?)" "p.?" "" "0000868984" "00016885" "70" "1157" "0" "1157" "0" "c.1157T>A" "r.(?)" "p.(Leu386Ter)" "" "0000868985" "00016885" "70" "1182" "0" "1202" "0" "c.1182_1202del" "r.(?)" "p.(Asn395_Pro401del)" "" "0000868986" "00016885" "70" "1182" "0" "1202" "0" "c.1182_1202del" "r.(?)" "p.(Asn395_Pro401del)" "" "0000868987" "00016885" "70" "1274" "2" "1274" "2" "c.1274+2T>C" "r.spl" "p.(Thr426Pro)" "" "0000868988" "00016885" "70" "1557" "0" "1557" "0" "c.1557C>A" "r.(?)" "p.(Tyr519Ter)" "" "0000868989" "00016885" "70" "784" "147" "1077" "327" "c.784+147_1077+327del" "r.(?)" "p.?" "" "0000868990" "00016885" "70" "784" "147" "1077" "327" "c.784+147_1077+327del" "r.(?)" "p.?" "" "0000868991" "00016885" "70" "2077" "-521" "2077" "-521" "c.2077-521A>G" "r.2076_2077ins2077-676_2077-522" "p.(Leu692_Ser693ins*23)" "" "0000868992" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000868993" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000868994" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000868995" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000868996" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000868997" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000868998" "00016885" "70" "1557" "0" "1557" "0" "c.1557C>A" "r.(?)" "p.(Tyr519*)" "" "0000868999" "00016885" "70" "1853" "0" "1853" "0" "c.1853T>G" "r.(?)" "p.(Leu618Arg)" "" "0000869000" "00016885" "70" "1142" "-1" "1142" "-1" "c.1142-1G>A" "r.spl" "p.?" "" "0000869001" "00016885" "70" "1354" "0" "1355" "0" "c.1354_1355insT" "r.(?)" "p.(Tyr452Leufs*13)" "" "0000869002" "00016885" "70" "1354" "0" "1355" "0" "c.1354_1355insT" "r.(?)" "p.(Tyr452Leufs*13)" "" "0000869003" "00016885" "70" "1354" "0" "1355" "0" "c.1354_1355insT" "r.(?)" "p.(Tyr452Leufs*13)" "" "0000869004" "00016885" "70" "1354" "0" "1355" "0" "c.1354_1355insT" "r.(?)" "p.(Tyr452Leufs*13)" "" "0000869005" "00016885" "70" "1354" "0" "1355" "0" "c.1354_1355insT" "r.(?)" "p.(Tyr452Leufs*13)" "" "0000869006" "00016885" "70" "1354" "0" "1355" "0" "c.1354_1355insT" "r.(?)" "p.(Tyr452Leufs*13)" "" "0000869007" "00016885" "70" "199" "0" "199" "0" "c.199C>T" "r.(?)" "p.(Gln67*)" "" "0000869008" "00016885" "70" "1301" "2" "1301" "2" "c.1301+2T>C" "r.spl" "p.?" "" "0000869009" "00016885" "70" "1579" "-1" "1579" "-1" "c.1579-1G>C" "r.spl" "p.?" "" "0000869010" "00016885" "70" "1142" "-1" "1142" "-1" "c.1142-1G>A" "r.spl" "p.?" "" "0000869011" "00016885" "70" "1177" "0" "1178" "0" "c.1177_1178delAT" "r.(?)" "p.(Ile393Argfs*21)" "" "0000869012" "00016885" "70" "1142" "-1" "1142" "-1" "c.1142-1G>A" "r.spl" "p.?" "" "0000869013" "00016885" "70" "22" "0" "22" "0" "c.22del" "r.(?)" "p.(Leu8Cysfs*51)" "" "0000869014" "00016885" "70" "436" "0" "436" "0" "c.436C>T" "r.(?)" "p.(Arg146*)" "" "0000869015" "00016885" "70" "1557" "0" "1557" "0" "c.1557C>A" "r.(?)" "p.(Tyr519*)" "" "0000869016" "00016885" "70" "1767" "0" "1767" "0" "c.1767G>A" "r.spl" "p.(Glu589=)" "" "0000869017" "00016885" "70" "139" "0" "139" "0" "c.139del" "r.(?)" "p.(His47IlefsTer12)" "" "0000869018" "00016885" "70" "1877" "0" "1878" "0" "c.1877_1878del" "r.(?)" "p.(Ile626ArgfsTer6)" "" "0000869020" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "11" "0000869021" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "11" "0000869022" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "11" "0000869023" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "11" "0000869024" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "11" "0000869025" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "11" "0000869026" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "11" "0000869027" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "11" "0000869028" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "11" "0000869029" "00016885" "70" "334" "0" "334" "0" "c.334T>C" "r.(?)" "p.(Cys112Arg)" "5" "0000869030" "00016885" "50" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Gly53Asp)" "2" "0000869031" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "8" "0000869032" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "8" "0000869033" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "8" "0000869034" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "8" "0000869035" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "8" "0000869036" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "8" "0000869037" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "8" "0000869038" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "8" "0000869039" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "8" "0000869040" "00016885" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "8" "0000881436" "00016885" "50" "1767" "0" "1767" "0" "c.1767G>A" "p.(?)" "p.(=)" "" "0000881437" "00016885" "70" "1578" "1" "1578" "1" "c.1578+1G>T" "r.spl" "p.?" "" "0000881438" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000886179" "00016885" "30" "2271" "0" "2271" "0" "c.2271C>T" "r.(?)" "p.(Ile757=)" "" "0000886180" "00016885" "30" "2037" "0" "2037" "0" "c.2037A>T" "r.(?)" "p.(Thr679=)" "" "0000886181" "00016885" "90" "1579" "-2" "1579" "-2" "c.1579-2A>C" "r.spl?" "p.?" "" "0000886182" "00016885" "70" "1424" "0" "1424" "0" "c.1424T>A" "r.(?)" "p.(Val475Asp)" "" "0000896450" "00016885" "90" "139" "0" "139" "0" "c.139delC" "r.(?)" "p.(His47IlefsTer12)" "" "0000896451" "00016885" "90" "242" "0" "242" "0" "c.242dupA" "r.(?)" "p.(Lys82GlufsTer4)" "" "0000896478" "00016885" "70" "303" "0" "303" "0" "c.303G>C" "r.(?)" "p.(Lys101Asn)" "" "0000896544" "00016885" "90" "139" "0" "139" "0" "c.139delC" "r.(?)" "p.(His47IlefsTer12)" "" "0000896646" "00016885" "50" "199" "0" "199" "0" "c.199C>G" "r.(?)" "p.(Gln67Glu)" "" "0000896662" "00016885" "50" "631" "-15" "631" "-10" "c.631-15_631-10delATGTTC" "r.spl" "p.?" "" "0000896663" "00016885" "90" "139" "0" "139" "0" "c.139delC" "r.(?)" "p.(His47IlefsTer12)" "" "0000904503" "00016885" "90" "2315" "0" "2315" "0" "c.2315C>T" "r.(?)" "p.(Ala772Val)" "" "0000904504" "00016885" "90" "2458" "0" "2458" "0" "c.2458C>G" "r.(?)" "p.(Arg820Gly)" "" "0000912076" "00016885" "50" "1946" "0" "1946" "0" "c.1946C>T" "r.(?)" "p.(Ser649Leu)" "" "0000912077" "00016885" "50" "1632" "0" "1632" "0" "c.1632G>T" "r.(?)" "p.(Gly544=)" "" "0000915949" "00016885" "50" "1077" "0" "1077" "0" "c.1077G>T" "r.(?)" "p.(Gln359His)" "9" "0000915950" "00016885" "90" "1142" "-1" "1142" "-1" "c.1142-1G>A" "r.spl?" "p.(?)" "9i" "0000915956" "00016885" "90" "1710" "0" "1710" "0" "c.1710C>A" "r.(?)" "p.(Tyr570*)" "14" "0000915957" "00016885" "90" "1726" "0" "1726" "0" "c.1726C>T" "r.(?)" "p.(Gln576*)" "14" "0000916032" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "10" "0000916057" "00016885" "90" "1710" "0" "1710" "0" "c.1710C>A" "r.(?)" "p.(Tyr570*)" "14" "0000916058" "00016885" "90" "1726" "0" "1726" "0" "c.1726C>T" "r.(?)" "p.(Gln576*)" "14" "0000916062" "00016885" "50" "1077" "0" "1077" "0" "c.1077G>T" "r.(?)" "p.(Gln359His)" "9" "0000916063" "00016885" "90" "1142" "-1" "1142" "-1" "c.1142-1G>A" "r.spl?" "p.(?)" "9i" "0000916161" "00016885" "50" "2446" "0" "2446" "0" "c.2446G>C" "r.(?)" "p.(Ala816Pro)" "22" "0000916162" "00016885" "90" "2461" "0" "2461" "0" "c.2461C>T" "r.(?)" "p.(Arg821*)" "22" "0000916203" "00016885" "90" "1177" "0" "1178" "0" "c.1177_1178del" "r.(?)" "p.(Ile393Argfs*21)" "10" "0000916307" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "10" "0000916369" "00016885" "70" "510" "-1" "510" "-1" "c.510-1G>A" "r.spl?" "p.(?)" "3i" "0000916398" "00016885" "70" "544" "0" "544" "0" "c.544C>T" "r.(?)" "p.(Gln182*)" "4" "0000916399" "00016885" "90" "2050" "0" "2050" "0" "c.2050C>T" "r.(?)" "p.(Arg684*)" "18" "0000916428" "00016885" "70" "2211" "2" "2211" "2" "c.2211+2T>C" "r.spl?" "p.(?)" "20i" "0000916443" "00016885" "90" "1984" "-1" "1984" "-1" "c.1984-1G>T" "r.spl?" "p.(?)" "16i" "0000916447" "00016885" "90" "1579" "-1" "1579" "-1" "c.1579-1G>C" "r.spl?" "p.(?)" "12i" "0000916448" "00016885" "50" "2446" "0" "2446" "0" "c.2446G>C" "r.(?)" "p.(Ala816Pro)" "22" "0000916567" "00016885" "90" "1984" "-1" "1984" "-1" "c.1984-1G>T" "r.spl?" "p.(?)" "16i" "0000916705" "00016885" "90" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452Leufs*13)" "11" "0000916706" "00016885" "70" "2005" "0" "2005" "0" "c.2005del" "r.(?)" "p.(Ser669Profs*2)" "17" "0000917735" "00016885" "90" "1301" "2" "1301" "2" "c.1301+2T>C" "r.spl" "p.?" "12i" "0000917816" "00016885" "50" "2131" "-695" "2131" "-695" "c.2131-695A>C" "r.spl" "p.?" "20i" "0000924079" "00016885" "30" "2309" "0" "2309" "0" "c.2309C>A" "r.(?)" "p.(Pro770His)" "" "0000924080" "00016885" "90" "2068" "0" "2068" "0" "c.2068C>T" "r.(?)" "p.(Gln690*)" "" "0000927644" "00016885" "50" "2383" "0" "2383" "0" "c.2383T>C" "r.(?)" "p.(Trp795Arg)" "" "0000933414" "00016885" "90" "2130" "2" "2130" "2" "c.2130+2del" "r.spl" "p.?" "" "0000933415" "00016885" "90" "220" "1" "220" "1" "c.220+1G>C" "r.spl" "p.?" "" "0000933433" "00016885" "90" "2130" "2" "2130" "2" "c.2130+2del" "r.spl" "p.?" "" "0000933434" "00016885" "90" "436" "0" "436" "0" "c.436C>T" "r.(?)" "p.(Arg146*)" "" "0000933437" "00016885" "90" "1423" "0" "1424" "0" "c.1423_1424del" "r.(?)" "p.(Val475Leufs*42)" "" "0000933597" "00016885" "90" "2130" "2" "2130" "2" "c.2130+2del" "r.spl" "p.?" "" "0000958166" "00016885" "90" "199" "0" "199" "0" "c.199C>T" "r.(?)" "p.(Gln67Ter)" "" "0000958187" "00016885" "70" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452LeufsTer13)" "" "0000958421" "00016885" "90" "2490" "-2" "2490" "-2" "c.2490-2A>G" "r.spl" "p.?" "" "0000958465" "00016885" "50" "884" "0" "884" "0" "c.884A>C" "r.(?)" "p.(Lys295Thr)" "" "0000958677" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "" "0000958961" "00016885" "50" "1780" "0" "1780" "0" "c.1780A>C" "r.(?)" "p.(Ile594Leu)" "" "0000959010" "00016885" "70" "1157" "0" "1157" "0" "c.1157T>A" "r.(?)" "p.(Leu386Ter)" "" "0000959049" "00016885" "90" "2490" "-2" "2490" "-2" "c.2490-2A>G" "r.spl" "p.?" "" "0000959366" "00016885" "70" "1177" "0" "1178" "0" "c.1177_1178del" "r.(?)" "p.(Ile393ArgfsTer21)" "" "0000959403" "00016885" "50" "604" "0" "604" "0" "c.604C>G" "r.(?)" "p.(Arg202Gly)" "" "0000959439" "00016885" "90" "2490" "-2" "2490" "-2" "c.2490-2A>G" "r.spl" "p.?" "" "0000959441" "00016885" "90" "2490" "-2" "2490" "-2" "c.2490-2A>G" "r.spl" "p.?" "" "0000959451" "00016885" "90" "2362" "0" "2372" "0" "c.2362_2372del" "r.(?)" "p.(Ile788GlufsTer26)" "" "0000959476" "00016885" "50" "437" "0" "437" "0" "c.437G>A" "r.(?)" "p.(Arg146Gln)" "" "0000963049" "00016885" "50" "2590" "0" "2590" "0" "c.2590C>T" "r.(?)" "p.(Gln864Ter)" "" "0000963050" "00016885" "30" "2440" "0" "2440" "0" "c.2440A>G" "r.(?)" "p.(Lys814Glu)" "" "0000963053" "00016885" "50" "1983" "5" "1983" "5" "c.1983+5G>T" "r.spl?" "p.?" "" "0000963054" "00016885" "10" "1768" "-5" "1768" "-5" "c.1768-5C>T" "r.spl?" "p.?" "" "0000963055" "00016885" "90" "1699" "0" "1699" "0" "c.1699dup" "r.(?)" "p.(Arg567Lysfs*17)" "" "0000963056" "00016885" "50" "1298" "0" "1298" "0" "c.1298A>G" "r.(?)" "p.(Tyr433Cys)" "" "0000963058" "00016885" "90" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Arg244*)" "" "0000976186" "00016885" "50" "1945" "0" "1945" "0" "c.1945T>C" "r.(?)" "p.(Ser649Pro)" "" "0000976187" "00016885" "30" "1345" "0" "1345" "0" "c.1345G>A" "r.(?)" "p.(Val449Met)" "" "0000976188" "00016885" "50" "604" "0" "604" "0" "c.604C>G" "r.(?)" "p.(Arg202Gly)" "" "0000976189" "00016885" "90" "303" "1" "303" "1" "c.303+1G>A" "r.spl?" "p.?" "" "0000985485" "00016885" "90" "221" "-20" "221" "-20" "c.221-20T>G" "r.221_276del" "p.Asp74Alafs*14" "" "0000985486" "00016885" "90" "221" "-20" "221" "-20" "c.221-20T>G" "r.221_276del" "p.Asp74Alafs*14" "" "0000986492" "00016885" "70" "1579" "-1" "1911" "1" "c.(1578+1_1579-1)_(1911+1_1912-1)del" "r.?" "p.(?)" "14i_17i" "0000986493" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "11" "0000986494" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "11" "0000986495" "00016885" "90" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452LeufsTer13)" "13" "0000986496" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "11" "0000986497" "00016885" "50" "2485" "0" "2485" "0" "c.2485G>A" "r.(?)" "p.(Asp829Asn)" "24" "0000986498" "00016885" "50" "2485" "0" "2485" "0" "c.2485G>A" "r.(?)" "p.(Asp829Asn)" "24" "0000986499" "00016885" "90" "2196" "0" "2196" "0" "c.2196del" "r.(?)" "p.(Ser733LeufsTer14)" "21" "0000986500" "00016885" "50" "694" "5" "694" "5" "c.694+5G>A" "r.spl" "p.?" "7i" "0000986501" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "11" "0000986502" "00016885" "90" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452LeufsTer13)" "13" "0000986503" "00016885" "50" "604" "0" "604" "0" "c.604C>G" "r.(?)" "p.(Arg202Gly)" "6" "0000986504" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "11" "0000986505" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "11" "0000986506" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "11" "0000986507" "00016885" "70" "1612" "0" "1612" "0" "c.1612del" "r.(?)" "p.(Trp538GlyfsTer15)" "15" "0000986508" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "11" "0000986509" "00016885" "70" "1321" "0" "1330" "0" "c.1321_1330dup" "r.(?)" "p.(Leu444HisfsTer24)" "13" "0000986510" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "11" "0000986511" "00016885" "90" "642" "0" "642" "0" "c.642T>A" "r.(?)" "p.(Tyr214Ter)" "7" "0000986512" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "11" "0000986513" "00016885" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Cys)" "11" "0000986945" "00016885" "50" "695" "-11" "695" "-11" "c.695-11T>G" "r.spl" "p.?" "7i" "0000987003" "00016885" "90" "1697" "0" "1697" "0" "c.1697dup" "r.(?)" "p.(Asn566LysfsTer2)" "" "0000987024" "00016885" "90" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452LeufsTer13)" "" "0000987151" "00016885" "90" "1354" "0" "1354" "0" "c.1354dup" "r.(?)" "p.(Tyr452LeufsTer13)" "" "0000987343" "00016885" "90" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Arg244Ter)" "" "0000987660" "00016885" "70" "1649" "0" "1649" "0" "c.1649C>G" "r.(?)" "p.(Ser550Ter)" "" "0000987661" "00016885" "70" "1649" "0" "1649" "0" "c.1649C>G" "r.(?)" "p.(Ser550Ter)" "" "0000987662" "00016885" "70" "1649" "0" "1649" "0" "c.1649C>G" "r.(?)" "p.(Ser550Ter)" "" "0001024901" "00016885" "90" "1557" "0" "1557" "0" "c.1557C>A" "r.(?)" "p.(Tyr519Ter)" "" "0001024902" "00016885" "90" "1534" "0" "1534" "0" "c.1534G>T" "r.(?)" "p.(Glu512*)" "" "0001034417" "00016885" "30" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(Arg69His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 621 "{{screeningid}}" "{{variantid}}" "0000001607" "0000019509" "0000001607" "0000019510" "0000001610" "0000019514" "0000001610" "0000019515" "0000016560" "0000036428" "0000032892" "0000060152" "0000032893" "0000060153" "0000032894" "0000060154" "0000032895" "0000060155" "0000032896" "0000060156" "0000032897" "0000060157" "0000032898" "0000060158" "0000032899" "0000060159" "0000033173" "0000060160" "0000033209" "0000060161" "0000033215" "0000060162" "0000033419" "0000060163" "0000033419" "0000060164" "0000033747" "0000060165" "0000096349" "0000158342" "0000156390" "0000358312" "0000156391" "0000358313" "0000174762" "0000784135" "0000210059" "0000441229" "0000210059" "0000441230" "0000233625" "0000476333" "0000233626" "0000476334" "0000233627" "0000476335" "0000233628" "0000476336" "0000233629" "0000476337" "0000233630" "0000476338" "0000233631" "0000476339" "0000233632" "0000476340" "0000233633" "0000476341" "0000233634" "0000476342" "0000233635" "0000476343" "0000233636" "0000476344" "0000233637" "0000476345" "0000233638" "0000476346" "0000233639" "0000476347" "0000233640" "0000476348" "0000233641" "0000476349" "0000233642" "0000476350" "0000233643" "0000476351" "0000233644" "0000476352" "0000233645" "0000476353" "0000233646" "0000476354" "0000233647" "0000476355" "0000233648" "0000476356" "0000233649" "0000476357" "0000233650" "0000476358" "0000233651" "0000476359" "0000233652" "0000476360" "0000233653" "0000476361" "0000233654" "0000476362" "0000233655" "0000476363" "0000233656" "0000476364" "0000234766" "0000477474" "0000234767" "0000477475" "0000234768" "0000477476" "0000294740" "0000651429" "0000294741" "0000651430" "0000294742" "0000651431" "0000300750" "0000663574" "0000306116" "0000669804" "0000309533" "0000684398" "0000309534" "0000684399" "0000309535" "0000684400" "0000309535" "0000684430" "0000309536" "0000684401" "0000309537" "0000684402" "0000309545" "0000684410" "0000309545" "0000684433" "0000309805" "0000684678" "0000310449" "0000685360" "0000310450" "0000685361" "0000310451" "0000685362" "0000310816" "0000685840" "0000325718" "0000710799" "0000326728" "0000710320" "0000326738" "0000710330" "0000328015" "0000711873" "0000329130" "0000713253" "0000329170" "0000713293" "0000329423" "0000713546" "0000329423" "0000713835" "0000329491" "0000713614" "0000329491" "0000713871" "0000329518" "0000713641" "0000329518" "0000713885" "0000329523" "0000713646" "0000329523" "0000713888" "0000329558" "0000713681" "0000332514" "0000729792" "0000332514" "0000729799" "0000333187" "0000730611" "0000333187" "0000730790" "0000333188" "0000730612" "0000333189" "0000730613" "0000333190" "0000730614" "0000333191" "0000730615" "0000333266" "0000730690" "0000333430" "0000731005" "0000333449" "0000731024" "0000333450" "0000731025" "0000333487" "0000731168" "0000333502" "0000731156" "0000334559" "0000732390" "0000334560" "0000732391" "0000334561" "0000732392" "0000334843" "0000732850" "0000334931" "0000732938" "0000334957" "0000732964" "0000334958" "0000732965" "0000335155" "0000733164" "0000335156" "0000733165" "0000335156" "0000733603" "0000335651" "0000734345" "0000335651" "0000734394" "0000335652" "0000734346" "0000335652" "0000734395" "0000335697" "0000734415" "0000335794" "0000734693" "0000336126" "0000735177" "0000336127" "0000735178" "0000336371" "0000735646" "0000336371" "0000735759" "0000336372" "0000735647" "0000336373" "0000735648" "0000336373" "0000735760" "0000336466" "0000735841" "0000336466" "0000735861" "0000336509" "0000735905" "0000336541" "0000735937" "0000336542" "0000735938" "0000336633" "0000736078" "0000336633" "0000736125" "0000336815" "0000736351" "0000336816" "0000736352" "0000336817" "0000736353" "0000360194" "0000760004" "0000360217" "0000759944" "0000360275" "0000760167" "0000360275" "0000760427" "0000360282" "0000760174" "0000360283" "0000760175" "0000360283" "0000760433" "0000360313" "0000760205" "0000360313" "0000760443" "0000360345" "0000760237" "0000360345" "0000760461" "0000360380" "0000760272" "0000360380" "0000760479" "0000360418" "0000760310" "0000360418" "0000760491" "0000360432" "0000760324" "0000360432" "0000760494" "0000360576" "0000760608" "0000363390" "0000764027" "0000364126" "0000764888" "0000364127" "0000764889" "0000364156" "0000764918" "0000364161" "0000764923" "0000364161" "0000764943" "0000364692" "0000765567" "0000364817" "0000765759" "0000364913" "0000765855" "0000364982" "0000765924" "0000369367" "0000811200" "0000370184" "0000790662" "0000373856" "0000784372" "0000373870" "0000784509" "0000373900" "0000784561" "0000373906" "0000784355" "0000373908" "0000784221" "0000373908" "0000784587" "0000373911" "0000784356" "0000373917" "0000784425" "0000373926" "0000784390" "0000373928" "0000784241" "0000373928" "0000784333" "0000373939" "0000784252" "0000373942" "0000784369" "0000373947" "0000784472" "0000373963" "0000784571" "0000373970" "0000784462" "0000374729" "0000785554" "0000374730" "0000785555" "0000374731" "0000785556" "0000374763" "0000785603" "0000374764" "0000785604" "0000374764" "0000785608" "0000375087" "0000786354" "0000375087" "0000786392" "0000375117" "0000786412" "0000375120" "0000786415" "0000375158" "0000786453" "0000376112" "0000787645" "0000376130" "0000787663" "0000376158" "0000787691" "0000376158" "0000787728" "0000376159" "0000787692" "0000376607" "0000788365" "0000376623" "0000788451" "0000376635" "0000788528" "0000377537" "0000789910" "0000377537" "0000789911" "0000377998" "0000790629" "0000378026" "0000790686" "0000378385" "0000791240" "0000378468" "0000791223" "0000378468" "0000791261" "0000378471" "0000791226" "0000378472" "0000791227" "0000378477" "0000791232" "0000378595" "0000791444" "0000378922" "0000791912" "0000379003" "0000792023" "0000379007" "0000792027" "0000379008" "0000792028" "0000379160" "0000792265" "0000379228" "0000792348" "0000380759" "0000793951" "0000380764" "0000793956" "0000380973" "0000794232" "0000380976" "0000794236" "0000381061" "0000794356" "0000381306" "0000794705" "0000381307" "0000794706" "0000381321" "0000794720" "0000382130" "0000795785" "0000382217" "0000795933" "0000382232" "0000795948" "0000382843" "0000796733" "0000382843" "0000796735" "0000382878" "0000796823" "0000382928" "0000796892" "0000382928" "0000796893" "0000382931" "0000796897" "0000382931" "0000796898" "0000383108" "0000797100" "0000383171" "0000797194" "0000383358" "0000797419" "0000383499" "0000797620" "0000383560" "0000797727" "0000383562" "0000797730" "0000383563" "0000797731" "0000383563" "0000797732" "0000383564" "0000797733" "0000383564" "0000797735" "0000383655" "0000797842" "0000383666" "0000797869" "0000383792" "0000798047" "0000383792" "0000798048" "0000384020" "0000798430" "0000384061" "0000798491" "0000384731" "0000811499" "0000384889" "0000811720" "0000384890" "0000811721" "0000384891" "0000811722" "0000384891" "0000811723" "0000384892" "0000811724" "0000384893" "0000811725" "0000384894" "0000811726" "0000384895" "0000811727" "0000384896" "0000811728" "0000384897" "0000811729" "0000384898" "0000811730" "0000384899" "0000811731" "0000384900" "0000811732" "0000384901" "0000811733" "0000384901" "0000811734" "0000384902" "0000811735" "0000384903" "0000811736" "0000384904" "0000811737" "0000384905" "0000811738" "0000384906" "0000811739" "0000384907" "0000811740" "0000384908" "0000811741" "0000384909" "0000811742" "0000384910" "0000811743" "0000384911" "0000811744" "0000384912" "0000811745" "0000384913" "0000811746" "0000384914" "0000811747" "0000384915" "0000811748" "0000384916" "0000811750" "0000384917" "0000811751" "0000384918" "0000811752" "0000384919" "0000811753" "0000384920" "0000811755" "0000384921" "0000811758" "0000384922" "0000811759" "0000384923" "0000811760" "0000385003" "0000811844" "0000385004" "0000811845" "0000385081" "0000811957" "0000385086" "0000811962" "0000385087" "0000811963" "0000385088" "0000811964" "0000385091" "0000811967" "0000385091" "0000811968" "0000385154" "0000812042" "0000385154" "0000812043" "0000385173" "0000812071" "0000385263" "0000812221" "0000385271" "0000812232" "0000385397" "0000812437" "0000385427" "0000812475" "0000385648" "0000812747" "0000385665" "0000812766" "0000385971" "0000813188" "0000385995" "0000813212" "0000385996" "0000813213" "0000385997" "0000813214" "0000385998" "0000813215" "0000385999" "0000813216" "0000386258" "0000813665" "0000386402" "0000813899" "0000386839" "0000814603" "0000387429" "0000815593" "0000387484" "0000815620" "0000387517" "0000815401" "0000387518" "0000815402" "0000387519" "0000815403" "0000387885" "0000816043" "0000387885" "0000816378" "0000388098" "0000816256" "0000388121" "0000816279" "0000388299" "0000816759" "0000388299" "0000816845" "0000388739" "0000817492" "0000389791" "0000819050" "0000390535" "0000819880" "0000390535" "0000820747" "0000390599" "0000819944" "0000390681" "0000820026" "0000390778" "0000820123" "0000390778" "0000820818" "0000390804" "0000820149" "0000390819" "0000820164" "0000390820" "0000820165" "0000390837" "0000820182" "0000390841" "0000820186" "0000390985" "0000820330" "0000391007" "0000820352" "0000391007" "0000820878" "0000391011" "0000820356" "0000391011" "0000820882" "0000391015" "0000820360" "0000391016" "0000820361" "0000391017" "0000820362" "0000391021" "0000820366" "0000391022" "0000820367" "0000391034" "0000820379" "0000391035" "0000820380" "0000391036" "0000820381" "0000391036" "0000820887" "0000391037" "0000820382" "0000391037" "0000820888" "0000391073" "0000820418" "0000391074" "0000820419" "0000391074" "0000820908" "0000391075" "0000820420" "0000391075" "0000820909" "0000391084" "0000820429" "0000391205" "0000820550" "0000391263" "0000820995" "0000391585" "0000821334" "0000391585" "0000821593" "0000391586" "0000821335" "0000391587" "0000821336" "0000391587" "0000821594" "0000391588" "0000821337" "0000391588" "0000821595" "0000391589" "0000821338" "0000391589" "0000821596" "0000391590" "0000821339" "0000392118" "0000822257" "0000392118" "0000822258" "0000392166" "0000822348" "0000392166" "0000822349" "0000392183" "0000822377" "0000392183" "0000822378" "0000392224" "0000822448" "0000392224" "0000822449" "0000392422" "0000822713" "0000392423" "0000822714" "0000392423" "0000822753" "0000392424" "0000822715" "0000392607" "0000822950" "0000392806" "0000823241" "0000392806" "0000823281" "0000392807" "0000823242" "0000394561" "0000825491" "0000394561" "0000825573" "0000394590" "0000825520" "0000394591" "0000825521" "0000394989" "0000826129" "0000395030" "0000826189" "0000395030" "0000826190" "0000395129" "0000826341" "0000395129" "0000826342" "0000397004" "0000828750" "0000397004" "0000828955" "0000397015" "0000828761" "0000397015" "0000828966" "0000397144" "0000828890" "0000397145" "0000828891" "0000397179" "0000828925" "0000397665" "0000829713" "0000397704" "0000829767" "0000407618" "0000844295" "0000408603" "0000845511" "0000409656" "0000846852" "0000409657" "0000846853" "0000411618" "0000868801" "0000411619" "0000868802" "0000411620" "0000868803" "0000411641" "0000868840" "0000411642" "0000868841" "0000411643" "0000868842" "0000411644" "0000868843" "0000411645" "0000868844" "0000411646" "0000868845" "0000411647" "0000868846" "0000411648" "0000868847" "0000411649" "0000868848" "0000411650" "0000868849" "0000411657" "0000868856" "0000411658" "0000868857" "0000411659" "0000868858" "0000411660" "0000868859" "0000411661" "0000868860" "0000411662" "0000868861" "0000411663" "0000868862" "0000411665" "0000868863" "0000411666" "0000868864" "0000411667" "0000868865" "0000411668" "0000868866" "0000411669" "0000868869" "0000411670" "0000868870" "0000411671" "0000868871" "0000411672" "0000868872" "0000411673" "0000868873" "0000411674" "0000868874" "0000411675" "0000868875" "0000411676" "0000868877" "0000411734" "0000868953" "0000411735" "0000868954" "0000411736" "0000868955" "0000411737" "0000868956" "0000411738" "0000868957" "0000411739" "0000868958" "0000411740" "0000868959" "0000411741" "0000868960" "0000411742" "0000868961" "0000411743" "0000868962" "0000411743" "0000868973" "0000411744" "0000868963" "0000411745" "0000868964" "0000411746" "0000868965" "0000411747" "0000868966" "0000411747" "0000868974" "0000411748" "0000868967" "0000411749" "0000868968" "0000411750" "0000868969" "0000411751" "0000868970" "0000411752" "0000868971" "0000411752" "0000868975" "0000411753" "0000868972" "0000411756" "0000868980" "0000411756" "0000868981" "0000411757" "0000868982" "0000411757" "0000868983" "0000411758" "0000868984" "0000411758" "0000868988" "0000411759" "0000868985" "0000411759" "0000868989" "0000411760" "0000868986" "0000411760" "0000868990" "0000411761" "0000868987" "0000411761" "0000868991" "0000411762" "0000868992" "0000411763" "0000868993" "0000411764" "0000868994" "0000411765" "0000868995" "0000411766" "0000868996" "0000411767" "0000868997" "0000411768" "0000868998" "0000411768" "0000869011" "0000411769" "0000868999" "0000411770" "0000869000" "0000411771" "0000869001" "0000411771" "0000869012" "0000411772" "0000869002" "0000411773" "0000869003" "0000411773" "0000869013" "0000411774" "0000869004" "0000411774" "0000869014" "0000411775" "0000869005" "0000411775" "0000869015" "0000411776" "0000869006" "0000411777" "0000869007" "0000411778" "0000869008" "0000411778" "0000869016" "0000411779" "0000869009" "0000411780" "0000869010" "0000411781" "0000869017" "0000411781" "0000869018" "0000411783" "0000869020" "0000411784" "0000869021" "0000411785" "0000869022" "0000411786" "0000869023" "0000411787" "0000869024" "0000411788" "0000869025" "0000411789" "0000869026" "0000411790" "0000869027" "0000411791" "0000869028" "0000411792" "0000869029" "0000411793" "0000869030" "0000411794" "0000869031" "0000411795" "0000869032" "0000411796" "0000869033" "0000411797" "0000869034" "0000411798" "0000869035" "0000411799" "0000869036" "0000411800" "0000869037" "0000411801" "0000869038" "0000411802" "0000869039" "0000411803" "0000869040" "0000421018" "0000881436" "0000421019" "0000881437" "0000421020" "0000881438" "0000421703" "0000896450" "0000421703" "0000896451" "0000421721" "0000896478" "0000421762" "0000896544" "0000421835" "0000896646" "0000421847" "0000896662" "0000421847" "0000896663" "0000427200" "0000904503" "0000427208" "0000904504" "0000431018" "0000915949" "0000431018" "0000915950" "0000431022" "0000915956" "0000431022" "0000915957" "0000431078" "0000916032" "0000431095" "0000916057" "0000431095" "0000916058" "0000431099" "0000916062" "0000431099" "0000916063" "0000431164" "0000916161" "0000431164" "0000916162" "0000431190" "0000916203" "0000431251" "0000916307" "0000431291" "0000916369" "0000431311" "0000916398" "0000431311" "0000916399" "0000431332" "0000916428" "0000431342" "0000916443" "0000431345" "0000916447" "0000431345" "0000916448" "0000431424" "0000916567" "0000431513" "0000916705" "0000431513" "0000916706" "0000432325" "0000917735" "0000432325" "0000917816" "0000436605" "0000927644" "0000437948" "0000933414" "0000437948" "0000933415" "0000437956" "0000933433" "0000437956" "0000933434" "0000437958" "0000933437" "0000438074" "0000933597" "0000448535" "0000958421" "0000448594" "0000958465" "0000448680" "0000958166" "0000448701" "0000958187" "0000448910" "0000958677" "0000449159" "0000959366" "0000449194" "0000958961" "0000449194" "0000959403" "0000449218" "0000959439" "0000449219" "0000959441" "0000449243" "0000959010" "0000449245" "0000959451" "0000449282" "0000959049" "0000449300" "0000959476" "0000451580" "0000985485" "0000451581" "0000985486" "0000452509" "0000986492" "0000452510" "0000986493" "0000452511" "0000986494" "0000452512" "0000986495" "0000452513" "0000986496" "0000452514" "0000986497" "0000452515" "0000986498" "0000452516" "0000986499" "0000452517" "0000986500" "0000452518" "0000986501" "0000452519" "0000986502" "0000452520" "0000986503" "0000452521" "0000986504" "0000452522" "0000986505" "0000452523" "0000986506" "0000452524" "0000986507" "0000452525" "0000986508" "0000452526" "0000986509" "0000452527" "0000986510" "0000452528" "0000986511" "0000452528" "0000986945" "0000452529" "0000986512" "0000452530" "0000986513" "0000452658" "0000987003" "0000452679" "0000987024" "0000452806" "0000987151" "0000452953" "0000987343" "0000453147" "0000987660" "0000453148" "0000987661" "0000453149" "0000987662"