### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDP) # 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}}" "NDP" "Norrie disease (pseudoglioma)" "X" "p11.4-p11.3" "unknown" "NG_009832.1" "UD_132118701837" "" "https://www.LOVD.nl/NDP" "" "1" "7678" "4693" "300658" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/NDP_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2022-12-31 11:10:03" "00006" "2024-12-25 08:48:57" ## 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}}" "00001800" "NDP" "Norrie disease (pseudoglioma)" "001" "NM_000266.3" "" "NP_000257.1" "" "" "" "-579" "1425" "402" "43832921" "43808022" "00001" "2013-03-13 15:09:54" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00115" "CRMCC" "microangiopathy, cerebroretinal, with calcifications and cysts (CRMCC, Coats plus syndrome)" "AR" "612199" "" "" "" "00001" "2013-03-08 10:55:44" "00006" "2021-12-10 21:51:32" "00116" "ND" "Norrie disease" "XLR" "310600" "" "" "" "00001" "2013-03-13 14:01:08" "00006" "2022-12-31 11:13:32" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02234" "EVR2" "vitreoretinopathy, exudative, X-linked, type 2 (EVR-2)" "XLD;XLR" "305390" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02262" "RS1" "retinoschisis, type 1, X-linked" "XLR" "312700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-12-19 09:25:40" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04240" "EVR;FEVR" "vitreoretinopathy, exudative (EVR; familial FVER))" "" "" "" "" "" "00006" "2015-04-10 12:38:11" "00006" "2019-07-31 13:55:30" "05094" "-" "blindness" "" "" "" "" "" "00006" "2015-10-25 10:46:07" "" "" "05301" "ROP" "retinopathy of prematurity (ROP)" "" "" "" "" "" "00006" "2017-07-06 15:07:07" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "NDP" "00116" "NDP" "00139" "NDP" "02234" "NDP" "04240" ## Individuals ## Do not remove or alter this header ## ## Count = 205 "{{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}}" "00000396" "" "" "" "1" "" "00015" "{PMID:Romaniello 2013:23220793}" "" "M" "" "(Italy)" ">08y" "0" "" "" "" "" "00037523" "" "" "" "1" "" "01239" "" "" "M" "yes" "Iran" "" "0" "" "" "white" "" "00037527" "" "" "" "1" "" "01251" "{PMID:Nikopoulos 2010:20340138}" "" "" "" "" "" "0" "" "" "" "" "00037528" "" "" "" "1" "" "01251" "{PMID:Schuback 1995:7627181}" "" "" "" "" "" "0" "" "" "" "" "00037529" "" "" "" "1" "" "01251" "Berger 1992" "" "" "" "" "" "0" "" "" "" "" "00037530" "" "" "" "1" "" "01251" "Berger 1992" "" "" "" "" "" "0" "" "" "" "" "00037531" "" "" "" "1" "" "01251" "{PMID:Nikopoulos 2010:20340138}" "" "" "" "" "" "0" "" "" "" "" "00037532" "" "" "" "1" "" "01251" "Fuchs 1996" "" "" "" "" "" "0" "" "" "" "" "00037533" "" "" "" "1" "" "01251" "Yamada 2001" "" "" "" "" "" "0" "" "" "" "" "00037534" "" "" "" "1" "" "01251" "Gal 1996" "" "" "" "" "" "0" "" "" "" "" "00037535" "" "" "" "1" "" "01251" "Kondo 2007" "" "" "" "" "" "0" "" "" "" "" "00037536" "" "" "" "1" "" "01251" "{PMID:Schuback 1995:7627181}" "" "" "" "" "" "0" "" "" "" "" "00037537" "" "" "" "1" "" "01251" "Meindl 1992" "" "" "" "" "" "0" "" "" "" "" "00037538" "" "" "" "1" "" "01251" "Ott 2000" "" "" "" "" "" "0" "" "" "" "" "00037539" "" "" "" "1" "" "01251" "{PMID:Schuback 1995:7627181}" "" "" "" "" "" "0" "" "" "" "" "00037540" "" "" "" "1" "" "01251" "Walker 1997" "" "" "" "" "" "0" "" "" "" "" "00037541" "" "" "" "1" "" "01251" "{PMID:Riveiro-Alvarez 2005:16163268}" "" "" "" "Spain" "" "0" "" "" "" "" "00037542" "" "" "" "1" "" "01251" "Wu 2007" "" "" "" "" "" "0" "" "" "" "" "00037543" "" "" "" "1" "" "01251" "Berger 1992" "" "" "" "" "" "0" "" "" "" "" "00037544" "" "" "" "1" "" "01251" "{PMID:Schuback 1995:7627181}" "" "" "" "" "" "0" "" "" "" "" "00037545" "" "" "" "1" "" "01251" "Mintz-Hittner 1996" "" "" "" "" "" "0" "" "" "" "" "00037546" "" "" "" "1" "" "01251" "Berger 1992" "" "" "" "" "" "0" "" "" "" "" "00037547" "" "" "" "1" "" "01251" "{PMID:Nikopoulos 2010:20340138}" "" "" "" "" "" "0" "" "" "" "" "00037548" "" "" "" "1" "" "01251" "{PMID:Riveiro-Alvarez 2005:16163268}" "" "" "" "Spain" "" "0" "" "" "" "" "00037549" "" "" "" "1" "" "01251" "Royer 2003" "" "" "" "" "" "0" "" "" "" "" "00037550" "" "" "" "1" "" "01251" "Fuchs 1996" "" "" "" "" "" "0" "" "" "" "" "00037551" "" "" "" "1" "" "01251" "Kellner 1996" "" "" "" "" "" "0" "" "" "" "" "00037552" "" "" "" "1" "" "01251" "Wong 1993" "" "" "" "" "" "0" "" "" "" "" "00037553" "" "" "" "1" "" "01251" "{PMID:Schuback 1995:7627181}" "" "" "" "" "" "0" "" "" "" "" "00037554" "" "" "" "1" "" "01251" "{PMID:Nikopoulos 2010:20340138}" "" "" "" "" "" "0" "" "" "" "" "00037555" "" "" "" "1" "" "01251" "{PMID:Nikopoulos 2010:20340138}" "" "" "" "" "" "0" "" "" "" "" "00037556" "" "" "" "1" "" "01251" "{PMID:Nikopoulos 2010:20340138}" "" "" "" "" "" "0" "" "" "" "" "00037557" "" "" "" "1" "" "01251" "{PMID:Nikopoulos 2010:20340138}" "" "" "" "" "" "0" "" "" "" "" "00037558" "" "" "" "1" "" "01251" "{PMID:Nikopoulos 2010:20340138}" "" "" "" "" "" "0" "" "" "" "" "00037559" "" "" "" "1" "" "01251" "{PMID:Nikopoulos 2010:20340138}" "" "" "" "" "" "0" "" "" "" "" "00037560" "" "" "" "1" "" "01251" "{PMID:Riveiro-Alvarez 2005:16163268}" "" "" "" "Spain" "" "0" "" "" "" "" "00037561" "" "" "" "1" "" "01251" "{PMID:Nikopoulos 2010:20340138}" "" "" "" "" "" "0" "" "" "" "" "00037562" "" "" "" "2" "" "01251" "{PMID:Nikopoulos 2010:20340138}" "" "" "" "" "" "0" "" "" "" "" "00037563" "" "" "" "1" "" "01251" "Joos 1994" "" "" "" "" "" "0" "" "" "" "" "00037564" "" "" "" "1" "" "01251" "Wu 2007" "" "" "" "" "" "0" "" "" "" "" "00037565" "" "" "" "1" "" "01251" "Caballero 1996" "" "" "" "" "" "0" "" "" "" "" "00037566" "" "" "" "1" "" "01251" "{PMID:Nikopoulos 2010:20340138}" "" "" "" "" "" "0" "" "" "" "" "00037567" "" "" "" "1" "" "01251" "Hatsukawa 2002" "" "" "" "" "" "0" "" "" "" "" "00263089" "" "" "" "2" "" "03383" "{PMID:Wu 2016:26908610}" "family of 3-generations, 2 affected" "M" "no" "Taiwan" "" "0" "" "" "" "E9 III-2" "00263295" "" "" "00263089" "1" "" "03383" "{PMID:Wu 2016:26908610}" "3 generation family, 2 affected" "M" "no" "Taiwan" "" "0" "" "right eye intraocular lens implantation" "" "E9 III-4" "00265315" "" "" "" "4" "" "03383" "{PMID:Yang 2012:22563645}" "4 generation family, 4 affected" "M" "no" "China" "" "0" "" "" "" "QT675 IV:6" "00265352" "" "" "" "1" "" "03383" "{PMID:Yang 2012:22563645}" "2 generation family, 1 affected (isolated)" "M" "no" "China" "" "0" "" "" "" "QT686 II:2" "00265353" "" "" "" "3" "" "03383" "{PMID:Yang 2012:22563645}" "4 generation family, 3 affected" "M" "no" "China" "" "0" "" "" "" "QT682 IV:8" "00265354" "" "" "" "1" "" "03383" "{PMID:Yang 2012:22563645}" "2 generation family, 1 affected, isolated" "M" "no" "China" "" "0" "" "" "" "QT834 II:1" "00265355" "" "" "" "2" "" "03383" "{PMID:Yang 2012:22563645}" "4 generation family, 2 affected" "M" "no" "China" "" "0" "" "" "" "QT871 IV:2" "00274456" "" "" "" "2" "" "03383" "{PMID:Dickinson 2006:16970763}" "monozygotic male twins" "M" "?" "Australia" "" "0" "" "" "" "Family 1" "00274457" "" "" "" "1" "" "03383" "{PMID:Dickinson 2006:16970763}" "" "M" "?" "Australia" "" "0" "" "" "" "" "00274458" "" "" "" "1" "" "03383" "{PMID:Dickinson 2006:16970763}" "" "M" "?" "Australia" "" "0" "" "" "" "" "00274459" "" "" "" "1" "" "03383" "{PMID:Dickinson 2006:16970763}" "prematurely born at 29 weeks of gestation, 1195g, oxygen therapy (normal at ocular exam)" "F" "?" "Australia" "" "0" "" "" "" "" "00274675" "" "" "" "1" "" "03383" "{PMID:Wawrocka 2016:30088388}" "" "M" "?" "Poland" "" "0" "" "" "" "Patient 1" "00274676" "" "" "" "1" "" "03383" "{PMID:Wawrocka 2016:30088388}" "" "M" "?" "Poland" "" "0" "" "" "" "Patient 2" "00274677" "" "" "" "12" "" "03383" "{PMID:Pelcastre 2010:20491809}" "3 generation family, 12 affected (all male)" "M" "no" "Mexico" "" "0" "" "" "" "Family 1 III:6" "00274678" "" "" "" "7" "" "03383" "{PMID:Pelcastre 2010:20491809}" "4 generation family, 7 affected (all male)" "M" "no" "Mexico" "" "0" "" "" "" "Family 2 III:1" "00274679" "" "" "" "4" "" "03383" "{PMID:Pelcastre 2010:20491809}" "4 generation family, 4 affected (male)" "M" "no" "Mexico" "" "0" "" "" "" "Family 3 III:8" "00274680" "" "" "" "8" "" "03383" "{PMID:Pelcastre 2010:20491809}" "4 generation family, 8 affected (male)" "M" "no" "Mexico" "" "0" "" "" "" "Family 4 III:1" "00274681" "" "" "" "2" "" "03383" "{PMID:Musada 2013:27217716}" "4 generation family, 2 affected (1 male proband and mother)" "M" "yes" "India" "" "0" "" "" "" "Family 21 IV:2" "00274682" "" "" "" "1" "" "03383" "{PMID:Musada 2016:27217716}" "2 generation family, 1 affected" "M" "no" "India" "" "0" "" "" "" "Family 97 II:2" "00274683" "" "" "" "2" "" "03383" "{PMID:Musada 2016:27217716}" "2 generation family, 2 affected (proband and mother)" "M" "no" "India" "" "0" "" "" "" "Family 3 II:2" "00274684" "" "" "" "3" "" "03383" "{PMID:Musada 2016:27217716}" "4 generation family, 3 affected" "F" "no" "India" "" "0" "" "" "" "Family 72 IV:1" "00274685" "" "" "" "2" "" "03383" "{PMID:Musada 2016:27217716}" "2 generation, 2 affected (1 severe, 1 mild)" "M" "no" "India" "" "0" "" "" "" "Family 139 II:2" "00274686" "" "" "" "1" "" "03383" "{PMID:Musada 2016:27217716}" "2 generation, 1 affected (sporadic)" "M" "no" "India" "" "0" "" "" "" "Family 85 II:1" "00274687" "" "" "" "1" "" "03383" "{PMID:Musada 2016:27217716}" "2 generation, 1 affected, sporadic" "M" "no" "India" "" "0" "" "" "" "Family 94 II:1" "00274688" "" "" "" "1" "" "03383" "{PMID:Musada 2016:27217716}" "4 generation family, 1 affected" "M" "yes" "India" "" "0" "" "" "" "Family 142 IV:1" "00274690" "" "" "" "2" "" "03383" "{PMID:Musada 2016:27217716}" "3 generation family, 2 affected" "M" "no" "India" "" "0" "" "" "" "Family 108 III:2" "00274691" "" "" "" "1" "" "03383" "{PMID:Musada 2016:27217716}" "5 generation family, 1 affected" "M" "yes" "India" "" "0" "" "" "" "Family 65 V:2" "00274890" "" "" "" "7" "" "03383" "{PMID:Liu 2016:27720678}" "6 generation family, 7 affected" "M" "no" "China" "" "0" "" "" "" "Proband V:9" "00275006" "" "" "" "1" "" "03383" "{PMID:Drenser 2006:17050281}" "Check with Carmel as protein and coding sequence do not match on Name Checker\r\n\r\nfamily history present (no pedigree available)" "?" "?" "United States" "" "0" "" "" "" "Patient 2" "00275440" "" "" "" "1" "" "03383" "{PMID:Kondo 2007:17325173}" "3 generation family, 1 affected" "M" "?" "Japan" "" "0" "" "" "" "Family 2 III-1" "00275443" "" "" "" "1" "" "03383" "{PMID:Kondo 2007:17325173}" "3 generation, 1 affected" "M" "no" "Japan" "" "0" "" "" "" "Family 4 III-1" "00275445" "" "" "" "3" "" "03383" "{PMID:Kondo 2007:17325173}" "3 generation, 3 affected" "M" "no" "Japan" "" "0" "" "lensectomy" "" "Family 5 III-1" "00275447" "" "" "" "2" "" "03383" "{PMID:Kondo 2007:17325173}" "3 generation, 2 affected" "M" "no" "Japan" "" "0" "" "" "" "Family 6 III-1" "00275449" "" "" "" "1" "" "03383" "{PMID:Lin 2010:20227630}" "2 generation, 2 affected" "M" "?" "Viet Nam" "" "0" "" "" "" "" "00275456" "" "" "" "1" "" "03383" "{PMID:Riveiro-Alvarez:16163268}" "2 generation, 1 affected (isolated)" "M" "no" "Spain" "" "0" "" "" "" "Family 1 II:2" "00275473" "" "" "" "3" "" "03383" "{PMID:Shastry 1997:9143917}" "4 generation, 3 affected, 3 unaffected male" "M" "no" "United States" "" "0" "" "" "" "Family 1 IV:3" "00275474" "" "" "" "1" "" "03383" "{PMID:Shastry 1997:9143917}" "sporadic" "M" "no" "United States" "" "0" "" "" "" "Family 2 III:2" "00275475" "" "" "" "1" "" "03383" "{PMID:Shastry 1997:9143917}" "sporadic, 3 generation family" "M" "no" "United States" "" "0" "" "" "" "Family 3 III:4" "00275477" "" "" "" "1" "" "03383" "{PMID:Shastry 1997:9143917}" "sporadic, 3 generation family" "M" "no" "United States" "" "0" "" "" "" "Family 5 III:2" "00287050" "" "" "" "3" "" "03561" "{PMID:Bao 2019:31821093}" "3-generation family, 3 affected (3M), 4 unaffected female carriers" "M" "?" "(China)" "" "0" "" "" "Chinese" "FamPatII3" "00287052" "" "" "00287050" "1" "" "03561" "{PMID:Bao 2019:31821093}" "brother" "M" "?" "China" "" "0" "" "" "Chinese" "FamPatII5" "00287053" "" "" "00287050" "1" "" "03561" "{PMID:Bao 2019:31821093}" "nephew, unaffected carrier mother" "M" "?" "China" "" "0" "" "" "Chinese" "FamPatIII6" "00295062" "" "" "" "20" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305304" "" "" "" "18" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00309240" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309241" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00332290" "" "" "" "1" "" "00000" "{PMID:Tang 2017:29181528}" "" "" "" "China" "" "0" "" "" "" "Fam55" "00332291" "" "" "" "1" "" "00000" "{PMID:Tang 2017:29181528}" "" "" "" "China" "" "0" "" "" "" "Fam57" "00332292" "" "" "" "1" "" "00000" "{PMID:Tang 2017:29181528}" "" "" "" "China" "" "0" "" "" "" "Fam56" "00332293" "" "" "" "1" "" "00000" "{PMID:Tang 2017:29181528}" "" "" "" "China" "" "0" "" "" "" "Fam5" "00332294" "" "" "" "1" "" "00000" "{PMID:Tang 2017:29181528}" "" "" "" "China" "" "0" "" "" "" "Fam58" "00333454" "" "" "" "2" "" "00000" "{PMID:Iarossi 2017:28758032}" "2-generation family, 2 affected brothers" "M" "" "Italy" "" "0" "" "" "" "Fam4" "00333455" "" "" "" "1" "" "00000" "{PMID:Iarossi 2017:28758032}" "2-generation family, 1 affected, carrier mother" "M" "" "Italy" "" "0" "" "" "" "Fam5" "00333786" "" "" "" "9" "" "00000" "{PMID:Stone 2017:28559085}" "family, 9 affected" "M" "" "(United States)" "" "0" "" "" "" "993" "00335208" "" "" "" "1" "" "00000" "{PMID:Keser 2017:28192794}" "" "" "" "Pakistan" "" "0" "" "" "" "NCRNA11" "00335210" "" "" "" "1" "" "00000" "{PMID:Keser 2017:28192794}" "" "" "" "Pakistan" "" "0" "" "" "" "NCRNA14" "00373448" "" "" "" "1" "" "00000" "{PMID:Salvo 2015:25711638}" "family" "" "" "United States" "" "0" "" "" "" "1458001" "00373449" "" "" "" "1" "" "00000" "{PMID:Salvo 2015:25711638}" "family" "" "" "United States" "" "0" "" "" "" "12876001" "00373450" "" "" "" "1" "" "00000" "{PMID:Salvo 2015:25711638}" "family" "" "" "United States" "" "0" "" "" "" "14500001" "00373451" "" "" "" "1" "" "00000" "{PMID:Salvo 2015:25711638}" "family" "" "" "United States" "" "0" "" "" "" "7794001" "00373452" "" "" "" "1" "" "00000" "{PMID:Salvo 2015:25711638}" "family" "" "" "United States" "" "0" "" "" "" "13788003" "00373453" "" "" "" "1" "" "00000" "{PMID:Salvo 2015:25711638}" "family" "" "" "United States" "" "0" "" "" "" "14024003" "00375419" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#011" "00376523" "" "" "" "1" "" "00000" "{PMID:Boonstra 2009:1932484}" "" "M" "" "" "" "0" "" "" "" "" "00376524" "" "" "" "1" "" "00000" "{PMID:Boonstra 2009:1932484}" "" "M" "" "" "" "0" "" "" "" "" "00380759" "" "" "" "1" "" "00000" "{PMID:Li 2018:30097784}" "" "M" "" "China" "" "0" "" "" "" "12" "00380760" "" "" "" "1" "" "00000" "{PMID:Li 2018:30097784}" "" "M" "" "China" "" "0" "" "" "" "13" "00382626" "" "" "" "1" "" "00000" "{PMID:Liu 2019:30474316}" "Family 1, case 1" "M" "" "China" "" "0" "" "" "" "Family_1_II-1" "00382630" "" "" "" "1" "" "00000" "{PMID:Liu 2019:30474316}" "Family 3, case 3" "M" "" "China" "" "0" "" "" "" "Family_3_III-1" "00382631" "" "" "" "1" "" "00000" "{PMID:Liu 2019:30474316}" "Family 3, mother of case 3" "F" "" "China" "" "0" "" "" "" "Family_3_II-2" "00382632" "" "" "" "1" "" "00000" "{PMID:Liu 2019:30474316}" "Family 3, matenral aunt of case 3" "F" "" "China" "" "0" "" "" "" "Family_3_II-3" "00382633" "" "" "" "1" "" "00000" "{PMID:Liu 2019:30474316}" "Family 3, sister of case 3 (tested at 19 weeks gestation)" "F" "" "China" "" "0" "" "" "" "Family_3_III-2" "00383560" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?" "00383561" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?" "00383562" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?" "00383563" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?" "00383564" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?" "00383565" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?" "00383566" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?" "00383567" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31299183}" "" "" "" "China" "" "0" "" "" "" "?" "00383728" "" "" "" "1" "" "00000" "{PMID:Tian 2019:31169861}" "" "?" "" "China" "" "0" "" "" "" "18" "00384277" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13376" "00384278" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13380" "00384310" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13602" "00384312" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13611" "00384353" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13874" "00384354" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13877" "00384360" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13951" "00384413" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "14391" "00384506" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "17815" "00387665" "" "" "" "1" "" "00000" "{PMID:Zanolli 2020:32141364}" "individual ID not present in paper, consecutive numbers given" "?" "" "Chile" "" "0" "" "" "" "53" "00387679" "" "" "" "1" "" "00000" "{PMID:Zanolli 2020:32141364}" "individual ID not present in paper, consecutive numbers given" "?" "" "Chile" "" "0" "" "" "" "78" "00388059" "" "" "" "1" "" "00000" "{PMID:Rao 2017:28494495}" "" "F" "" "China" "" "0" "" "" "" "F18" "00388061" "" "" "" "1" "" "00000" "{PMID:Rao 2017:28494495}" "" "M" "" "China" "" "0" "" "" "" "F21" "00388064" "" "" "" "1" "" "00000" "{PMID:Rao 2017:28494495}" "" "M" "" "China" "" "0" "" "" "" "F31" "00388254" "" "" "" "1" "" "00000" "{PMID:Wang 2021:32238352}" "proband, family 10, only family numbers mentioned in the paper" "?" "" "China" "" "0" "" "" "" "10" "00388255" "" "" "" "1" "" "00000" "{PMID:Wang 2021:32238352}" "mother of 10.1, only family numbers mentioned in the paper" "M" "" "China" "" "0" "" "" "" "10" "00391795" "" "" "" "1" "" "00000" "{PMID:Li 2020:32884843}" "" "M" "" "" "" "0" "" "" "" "4" "00391796" "" "" "" "1" "" "00000" "{PMID:Li 2020:32884843}" "" "M" "" "" "" "0" "" "" "" "5" "00391797" "" "" "" "1" "" "00000" "{PMID:Li 2020:32884843}" "" "M" "" "" "" "0" "" "" "" "6" "00393886" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00416884" "" "" "" "1" "" "00000" "{PMID:Allen 2006:15776010}" "" "M" "" "United States" "" "0" "" "" "Iowa" "V-2" "00416885" "" "" "" "1" "" "00000" "{PMID:Allen 2006:15776010}" "" "M" "" "United States" "" "0" "" "" "Iowa" "III-15" "00416886" "" "" "" "1" "" "00000" "{PMID:Allen 2006:15776010}" "" "M" "" "United States" "" "0" "" "" "Iowa" "III-16" "00416887" "" "" "" "1" "" "00000" "{PMID:Allen 2006:15776010}" "" "M" "" "United States" "" "0" "" "" "Iowa" "III-17" "00416888" "" "" "" "1" "" "00000" "{PMID:Allen 2006:15776010}" "" "M" "" "United States" "" "0" "" "" "Iowa" "IIl-13" "00416889" "" "" "" "1" "" "00000" "{PMID:Allen 2006:15776010}" "" "M" "" "United States" "" "0" "" "" "Iowa" "IV-12" "00416890" "" "" "" "1" "" "00000" "{PMID:Allen 2006:15776010}" "" "M" "" "United States" "" "0" "" "" "Iowa" "V-12" "00416891" "" "" "" "1" "" "00000" "{PMID:Allen 2006:15776010}" "" "M" "" "United States" "" "0" "" "" "Iowa" "III-8" "00416892" "" "" "" "1" "" "00000" "{PMID:Allen 2006:15776010}" "" "M" "" "United States" "" "0" "" "" "Syrian" "IV-27" "00416893" "" "" "" "1" "" "00000" "{PMID:Allen 2006:15776010}" "" "M" "" "United States" "" "0" "" "" "Syrian" "IV-31" "00416894" "" "" "" "1" "" "00000" "{PMID:Allen 2006:15776010}" "" "M" "" "United States" "" "0" "" "" "Syrian" "IV-33" "00416895" "" "" "" "1" "" "00000" "{PMID:Shastry 1995:7558002}" "Family 1, individual 1 (brother of 2 and 3)" "M" "" "United States" "" "0" "" "" "" "1 (family 1)" "00416896" "" "" "" "1" "" "00000" "{PMID:Shastry 1995:7558002}" "Family 1, individual 2 (brother of 1 and 3)" "M" "" "United States" "" "0" "" "" "" "2 (family 1)" "00416897" "" "" "" "1" "" "00000" "{PMID:Shastry 1995:7558002}" "Family 1, individual 3 (brother of 2 and 1)" "M" "" "United States" "" "0" "" "" "" "3 (family 1)" "00416898" "" "" "" "1" "" "00000" "{PMID:Chen 1993:8252044}" "Family FEVR, individual V-1" "M" "" "United States" "" "0" "" "cryotherapy" "" "V-1 (family FEVR)" "00416899" "" "" "" "1" "" "00000" "{PMID:Chen 1993:8252044}" "Family FEVR, individual V- 2" "M" "" "United States" "" "0" "" "cryotherapy" "" "V- 2 (family FEVR)" "00416900" "" "" "" "1" "" "00000" "{PMID:Chen 1993:8252044}" "Family FEVR, individual IV-8 (described as IV:6)" "M" "" "United States" "" "0" "" "left eye: cryocoagulation" "" "IV-8 (family FEVR)" "00416901" "" "" "" "1" "" "00000" "{PMID:Chen 1993:8252044}" "Family FEVR, individual V-5" "M" "" "United States" "" "0" "" "" "" "V-5 (family FEVR)" "00416902" "" "" "" "1" "" "00000" "{PMID:Chen 1993:8252044}" "Family FEVR, individual IV-12" "M" "" "United States" "" "0" "" "" "" "IV-12 (family FEVR)" "00416903" "" "" "" "1" "" "00000" "{PMID:Chen 1993:8252044}" "Family FEVR, individual IV-13" "M" "" "United States" "" "0" "" "" "" "IV-13 (family FEVR)" "00416904" "" "" "" "1" "" "00000" "{PMID:Fuchs 1995:8535448}" "Family 1, individual 1 (brother of 2 and 3)" "M" "" "Germany" "" "0" "" "" "" "1 (family 1)" "00416906" "" "" "" "1" "" "00000" "{PMID:Torrente 1997:9382152}" "Family 1, 5 affected males in 4 generations (no numbering of individuals, consecutive numbers given)" "M" "" "Italy" "" "0" "" "" "Italian" "1_1" "00416907" "" "" "" "1" "" "00000" "{PMID:Torrente 1997:9382152}" "Family 1, 5 affected males in 4 generations (no numbering of individuals, consecutive numbers given)" "M" "" "Italy" "" "0" "" "" "Italian" "1_2" "00416908" "" "" "" "1" "" "00000" "{PMID:Torrente 1997:9382152}" "Family 1, 5 affected males in 4 generations (no numbering of individuals, consecutive numbers given)" "M" "" "Italy" "" "0" "" "" "Italian" "1_3" "00416909" "" "" "" "1" "" "00000" "{PMID:Torrente 1997:9382152}" "Family 1, 5 affected males in 4 generations (no numbering of individuals, consecutive numbers given)" "M" "" "Italy" "" "0" "" "" "Italian" "1_4" "00416910" "" "" "" "1" "" "00000" "{PMID:Torrente 1997:9382152}" "Family 1, 5 affected males in 4 generations (no numbering of individuals, consecutive numbers given)" "M" "" "Italy" "" "0" "" "" "Italian" "1_5" "00416911" "" "" "" "1" "" "00000" "{PMID:Torrente 1997:9382152}" "Family 2, 6 affected males in 5 generations, individual V-2 (proband)" "M" "" "Italy" "" "0" "" "" "Italian" "2_V-2" "00416912" "" "" "" "1" "" "00000" "{PMID:Torrente 1997:9382152}" "Family 2, 6 affected males in 5 generations (no numbering of individuals, consecutive numbers given)" "M" "" "Italy" "" "0" "" "" "Italian" "2_2" "00416913" "" "" "" "1" "" "00000" "{PMID:Torrente 1997:9382152}" "Family 2, 6 affected males in 5 generations (no numbering of individuals, consecutive numbers given)" "M" "" "Italy" "" "0" "" "" "Italian" "2_3" "00416914" "" "" "" "1" "" "00000" "{PMID:Torrente 1997:9382152}" "Family 2, 6 affected males in 5 generations (no numbering of individuals, consecutive numbers given)" "M" "" "Italy" "" "0" "" "" "Italian" "2_4" "00416915" "" "" "" "1" "" "00000" "{PMID:Torrente 1997:9382152}" "Family 2, 6 affected males in 5 generations (no numbering of individuals, consecutive numbers given)" "M" "" "Italy" "" "0" "" "" "Italian" "2_5" "00416916" "" "" "" "1" "" "00000" "{PMID:Torrente 1997:9382152}" "Family 2, 6 affected males in 5 generations (no numbering of individuals, consecutive numbers given)" "M" "" "Italy" "" "0" "" "" "Italian" "2_6" "00416918" "" "" "" "1" "" "00000" "{PMID:Shastry 1999:10544980}" "Family 1, 6 affected males and 1 female in 4 generations, individual IV-1 (proband)" "M" "" "" "" "0" "" "" "" "1_IV-1" "00416919" "" "" "" "1" "" "00000" "{PMID:Shastry 1999:10544980}" "Family 1, 6 affected males and 1 female in 4 generations, individual II-1 (proband\'s maternal granduncle)" "M" "" "" "" "0" "" "" "" "1_II-1" "00416920" "" "" "" "1" "" "00000" "{PMID:Shastry 1999:10544980}" "Family 1, 6 affected males and 1 female in 4 generations, individual II-2 (proband\'s maternal granduncle)" "M" "" "" "" "0" "" "" "" "1_II-2" "00416921" "" "" "" "1" "" "00000" "{PMID:Shastry 1999:10544980}" "Family 1, 6 affected males and 1 female in 4 generations, individual II-3 (proband\'s maternal granduncle 3)" "M" "" "" "" "0" "" "" "" "1_II-3" "00416922" "" "" "" "1" "" "00000" "{PMID:Shastry 1999:10544980}" "Family 1, 6 affected males and 1 female in 4 generations, individual II-4 (proband\'s maternal granduncle 4)" "M" "" "" "" "0" "" "" "" "1_II-4" "00416923" "" "" "" "1" "" "00000" "{PMID:Shastry 1999:10544980}" "Family 1, 6 affected males and 1 female in 4 generations, individual II-5 (proband\'s maternal grandmother)" "F" "" "" "" "0" "" "" "" "1_II-5" "00416924" "" "" "" "1" "" "00000" "{PMID:Shastry 1999:10544980}" "Family 1, 6 affected males and 1 female in 4 generations, individual III-1 (proband\'s maternal uncle)" "M" "" "" "" "0" "" "" "" "1_III-1" "00416925" "" "" "" "1" "" "00000" "{PMID:Shastry 1999:10544980}" "Family 2, 1 affected male in 2 generations, individual II-1 (proband)" "F" "" "" "" "0" "" "" "" "2_II-1" "00416943" "" "" "" "1" "" "00000" "{PMID:Chamney 2011:21960066}" "" "M" "" "" "" "0" "" "" "" "1" "00416966" "" "" "" "1" "" "00000" "{PMID:Wu 2007:17296899}" "" "M" "" "" "" "0" "" "" "" "1" "00416967" "" "" "" "1" "" "00000" "{PMID:Wu 2007:17296899}" "" "M" "" "" "" "0" "" "" "" "2" "00416968" "" "" "" "1" "" "00000" "{PMID:Wu 2007:17296899}" "" "M" "" "" "" "0" "" "" "" "3" "00416969" "" "" "" "1" "" "00000" "{PMID:Wu 2007:17296899}" "" "M" "" "" "" "0" "" "" "" "4" "00416970" "" "" "" "1" "" "00000" "{PMID:Wu 2007:17296899}" "" "M" "" "" "" "0" "" "" "" "5" "00416971" "" "" "" "1" "" "00000" "{PMID:Wu 2007:17296899}" "" "M" "" "" "" "0" "" "" "" "6" "00416972" "" "" "" "1" "" "00000" "{PMID:Wu 2007:17296899}" "brother of 9" "M" "" "" "" "0" "" "" "" "8" "00416973" "" "" "" "1" "" "00000" "{PMID:Wu 2007:17296899}" "brother of 8" "M" "" "" "" "0" "" "" "" "9" "00416974" "" "" "" "1" "" "00000" "{PMID:Wu 2007:17296899}" "" "M" "" "" "" "0" "" "" "" "10" "00416975" "" "" "" "1" "" "00000" "{PMID:Wu 2007:17296899}" "" "M" "" "" "" "0" "" "" "" "11" "00416977" "" "" "" "1" "" "03840" "{PMID:Wu 2007:17296899}" "" "M" "" "" "" "0" "" "" "" "7" "00416985" "" "" "" "1" "" "00000" "{PMID:Bao 2019:31821093}" "proband\'s maternal uncle 1" "M" "" "China" "" "0" "" "bilateral laser treatment several times" "southern Chinese" "II:3" "00416986" "" "" "" "1" "" "00000" "{PMID:Bao 2019:31821093}" "proband\'s maternal uncle 2" "M" "" "China" "" "0" "" "" "southern Chinese" "II:5" "00416987" "" "" "" "1" "" "00000" "{PMID:Bao 2019:31821093}" "proband" "M" "" "China" "" "0" "" "" "southern Chinese" "III:6" "00428315" "" "" "" "3" "" "00006" "{PMID:Zhao 2022:36577125}" "3-generation family, 3 affected, 2 unaffected carrier females" "F" "" "China" "" "0" "" "" "" "Fam2PatII2" "00428316" "" "" "" "5" "" "00006" "{PMID:Zhao 2022:36577125}" "4-generation family, 5 affected (5M), 4 unaffected carrier mother" "M" "" "China" "" "0" "" "" "" "Fam1PatIII1" "00451542" "" "" "" "7" "" "04543" "{PMID:Basharat 2024:38815792}" "3-generation family, 7 affected (7M)" "M" "yes" "Pakistan" "" "0" "" "" "" "FamDPatIII1" "00451543" "" "" "00451542" "1" "" "04543" "{PMID:Basharat 2024:38815792}" "brother" "M" "yes" "Pakistan" "" "0" "" "" "" "FamDPatIII2" "00458996" "" "" "" "1" "" "00006" "{PMID:Jimenez 2022:36362148}" "2-generation family, 1 affected, unaffected carrier mother/sister" "M" "" "United States" "" "0" "" "" "" "Pat2" "00459404" "" "" "" "2" "" "00006" "{PMID:Hiraoka 2001:11281412}, {PMID:Shastry 2010:21472264}" "5-generation family, 2 affected (grandfather/grandson), unaffected carrier mother" "M" "" "United States" "" "0" "" "" "" "Fam1PatII4/IV1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 245 "{{individualid}}" "{{diseaseid}}" "00000396" "00115" "00000396" "00116" "00037523" "00198" "00037527" "00116" "00037528" "00116" "00037529" "00116" "00037530" "00116" "00037531" "00116" "00037532" "00116" "00037533" "00116" "00037534" "00116" "00037535" "02234" "00037536" "00116" "00037537" "00116" "00037538" "00116" "00037539" "00116" "00037540" "00116" "00037541" "00116" "00037542" "00116" "00037543" "00116" "00037544" "00116" "00037545" "00116" "00037546" "00116" "00037547" "00116" "00037548" "00116" "00037549" "02234" "00037550" "00116" "00037551" "00198" "00037552" "00116" "00037553" "00116" "00037554" "00116" "00037555" "00116" "00037556" "00116" "00037557" "00116" "00037558" "00116" "00037559" "00116" "00037560" "00116" "00037561" "00116" "00037562" "00116" "00037563" "00116" "00037564" "00116" "00037565" "00116" "00037566" "00116" "00037567" "00198" "00263089" "04240" "00263295" "04240" "00265315" "00116" "00265315" "04240" "00265352" "00116" "00265353" "00116" "00265354" "00116" "00265355" "00116" "00274456" "00116" "00274456" "02234" "00274456" "04240" "00274457" "02234" "00274457" "04240" "00274458" "05301" "00274459" "00000" "00274675" "02234" "00274675" "04240" "00274676" "02234" "00274676" "04240" "00274677" "00116" "00274677" "02234" "00274677" "04240" "00274678" "00116" "00274678" "02234" "00274678" "04240" "00274679" "00116" "00274679" "02234" "00274679" "04240" "00274680" "02234" "00274680" "04240" "00274681" "02234" "00274681" "04240" "00274682" "02234" "00274682" "04240" "00274683" "02234" "00274683" "04240" "00274684" "02234" "00274684" "04240" "00274685" "02234" "00274685" "04240" "00274686" "02234" "00274686" "04240" "00274687" "02234" "00274687" "04240" "00274688" "02234" "00274688" "04240" "00274690" "02234" "00274690" "04240" "00274691" "02234" "00274691" "04240" "00274890" "02234" "00274890" "04240" "00275006" "02234" "00275006" "04240" "00275440" "02234" "00275440" "04240" "00275443" "02234" "00275443" "04240" "00275445" "00116" "00275445" "02234" "00275445" "04240" "00275447" "00116" "00275447" "02234" "00275447" "04240" "00275449" "00116" "00275449" "02234" "00275449" "04240" "00275456" "00116" "00275456" "02234" "00275456" "04240" "00275473" "02234" "00275473" "04240" "00275474" "02234" "00275474" "04240" "00275475" "02234" "00275475" "04240" "00275477" "02234" "00275477" "04240" "00287050" "02234" "00287052" "02234" "00287053" "02234" "00295062" "00198" "00305304" "00198" "00309240" "04214" "00309241" "04214" "00332290" "04214" "00332291" "04214" "00332292" "04214" "00332293" "04214" "00332294" "04214" "00333454" "04214" "00333455" "04214" "00333786" "04214" "00335208" "04214" "00335210" "04214" "00373448" "04214" "00373449" "04214" "00373450" "04214" "00373451" "04214" "00373452" "04214" "00373453" "04214" "00375419" "04214" "00376523" "04214" "00376524" "04214" "00380759" "04214" "00380760" "04214" "00382626" "04214" "00382630" "04214" "00382631" "04214" "00382632" "04214" "00382633" "04214" "00383560" "04214" "00383561" "04214" "00383562" "04214" "00383563" "04214" "00383564" "04214" "00383565" "04214" "00383566" "04214" "00383567" "04214" "00383728" "04214" "00384277" "04214" "00384278" "04214" "00384310" "04214" "00384312" "04214" "00384353" "04214" "00384354" "00198" "00384360" "04214" "00384413" "04214" "00384506" "04214" "00387665" "04214" "00387679" "04214" "00388059" "04214" "00388061" "04214" "00388064" "04214" "00388254" "04214" "00388255" "04214" "00391795" "04214" "00391796" "04214" "00391797" "04214" "00393886" "04214" "00416884" "00116" "00416885" "00116" "00416886" "00116" "00416887" "00116" "00416888" "00116" "00416889" "00116" "00416890" "00116" "00416891" "00116" "00416892" "00116" "00416893" "00116" "00416894" "00116" "00416895" "02234" "00416896" "02234" "00416897" "02234" "00416898" "02234" "00416899" "02234" "00416900" "02234" "00416901" "02234" "00416902" "02234" "00416903" "02234" "00416904" "02234" "00416906" "02234" "00416907" "02234" "00416908" "02234" "00416909" "02234" "00416910" "02234" "00416911" "02234" "00416912" "02234" "00416913" "02234" "00416914" "02234" "00416915" "02234" "00416916" "02234" "00416918" "02234" "00416919" "02234" "00416920" "02234" "00416921" "02234" "00416922" "02234" "00416923" "02234" "00416924" "02234" "00416925" "02234" "00416943" "02234" "00416966" "02234" "00416967" "02234" "00416968" "00116" "00416969" "02234" "00416970" "02234" "00416971" "00116" "00416972" "00116" "00416973" "00116" "00416974" "00116" "00416975" "05301" "00416977" "02234" "00416985" "02234" "00416986" "02234" "00416987" "02234" "00428315" "05094" "00428316" "05094" "00451542" "00198" "00451543" "00198" "00458996" "04240" "00459404" "02262" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00115, 00116, 00139, 00198, 02234, 02262, 04214, 04240, 05094, 05301 ## Count = 197 "{{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}}" "0000000084" "00115" "00000396" "00015" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000000085" "00116" "00000396" "00015" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028043" "00198" "00037523" "01239" "Familial, X-linked recessive" "18y" "Microphthalmia\r\nSclerocornea" "" "" "" "" "" "" "" "" "" "" "" "0000028048" "00116" "00037527" "01251" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028049" "00116" "00037528" "01251" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028050" "00116" "00037529" "01251" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028051" "00116" "00037530" "01251" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028052" "00116" "00037531" "01251" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028053" "00116" "00037532" "01251" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028054" "00116" "00037533" "01251" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028055" "00116" "00037534" "01251" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028056" "02234" "00037535" "01251" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028057" "00116" "00037536" "01251" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028058" "00116" "00037537" "01251" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028059" "00116" "00037538" "01251" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028060" "00116" "00037539" "01251" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028061" "00116" "00037540" "01251" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028062" "00116" "00037541" "01251" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028063" "00116" "00037542" "01251" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028064" "00116" "00037543" "01251" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028065" "00116" "00037544" "01251" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028066" "00116" "00037545" "01251" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028067" "00116" "00037546" "01251" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028068" "00116" "00037547" "01251" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028069" "00116" "00037548" "01251" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028070" "02234" "00037549" "01251" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028071" "00116" "00037550" "01251" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028072" "00198" "00037551" "01251" "Familial" "" "ocular phenotypes" "" "" "" "" "" "" "" "" "" "" "" "0000028073" "00116" "00037552" "01251" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028074" "00116" "00037553" "01251" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028075" "00116" "00037554" "01251" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028076" "00116" "00037555" "01251" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028077" "00116" "00037556" "01251" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028078" "00116" "00037557" "01251" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028079" "00116" "00037558" "01251" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028080" "00116" "00037559" "01251" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028081" "00116" "00037560" "01251" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028082" "00116" "00037561" "01251" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028083" "00116" "00037562" "01251" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028084" "00116" "00037563" "01251" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028085" "00116" "00037564" "01251" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028086" "00116" "00037565" "01251" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028087" "00116" "00037566" "01251" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000028088" "00198" "00037567" "01251" "Familial" "" "retinopathy or prematurity" "" "" "" "" "" "" "" "" "" "" "" "0000201534" "04240" "00263089" "03383" "Familial" "?" "familial exudative vitreoretinopathy (HP:0030490); no sign of retinitis pigmentosa (HP:0000510); left eye: total traction retinal detachment (HP:0007917), corneal opacity (HP:0007957), retinal hole (HP:0011530)" "00y" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000201654" "04240" "00263295" "03383" "Familial" "" "familial exudative retinopathy (HP:0030490), right eye fibrovascular stalk (HP:0007968), left eye (HP:0001103)" "00y" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000203113" "00116" "00265315" "03383" "Familial, X-linked" "00y02m" "Norrie\'s disease (HP:0000407), total retinal detachment (HP:0000541)" "" "" "leukocoria (HP:0000555)" "" "" "" "" "" "Norrie-like retinopathy" "" "" "0000203149" "00116" "00265352" "03383" "Isolated (sporadic)" "00y02m" "Norrie disease (HP:0000407), microphthalmia (HP:0000568)" "" "" "leukocoria (HP:0000555)" "" "" "" "" "" "Norrie-like retinopathy" "" "" "0000203150" "00116" "00265353" "03383" "Familial, X-linked" "02y01m" "Norrie disease (HP:0000407), total retinal detachment (HP:0000541)" "" "" "leukocoria (HP:0000555)" "" "" "" "" "" "Norrie-like retinopathy" "" "" "0000203151" "00116" "00265354" "03383" "Isolated (sporadic)" "02y00m" "Norrie disease (HP:0000407), total retinal detachment (HP:0000541)" "" "" "leukocoria (HP:0000555)" "" "" "" "" "" "Norrie-like retinopathy" "" "" "0000203152" "00116" "00265355" "03383" "Familial, X-linked" "00y06m" "Norrie disease (HP:0000407), total retinal detachment" "" "" "" "" "" "" "" "" "Norrie-like retinopathy" "" "" "0000209396" "04240" "00274456" "03383" "Familial, X-linked" "05y" "bilateral total detachment (HP:0000541), Norrie-related deafness (HP:0000365)" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy type 2 (EVR-2; familial)" "Norrie-like retinopathy" "" "0000209397" "04240" "00274457" "03383" "Familial, X-linked" "" "exudative vitreoretinopathy (HP:0030490)" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy type 2 (EVR-2; familial)" "familial exudative vitreoretinopathy" "" "0000209398" "05301" "00274458" "03383" "Familial, X-linked" "01y06m" "Stage 2 retinopathy of prematurity (HP:0500051), mild hypermetropia at 01y06m (HP:0031728), born 25 weeks gestation, 950g, 3 months oxygen therapy, spontaneous regression" "" "" "" "" "" "" "" "" "" "Retinopathy of prematurity" "" "0000209399" "00000" "00274459" "03383" "Familial, X-linked" "" "29 weeks gestation birth, 1195g, oxygen therapy (normal at ocular examination)" "" "" "" "" "" "" "" "" "" "" "" "0000209613" "04240" "00274675" "03383" "Familial, X-linked" "00y07m" "exudative vitreoretinopathy (HP:0030490), retinal detachment (HP:0000541), iris rubeosis (HP:0025319)" "00y03m" "" "" "" "" "" "" "" "X-linked FEVR (EVR type 2)" "Norrie-like retinopathy" "" "0000209614" "04240" "00274676" "03383" "Familial, X-linked" "04y" "exudative vitreoretinopathy (HP:0030490)" "" "04y" "" "" "" "" "" "" "exudative vitreoretinopathy type 2 (EVR-2; familial)" "" "" "0000209615" "00116" "00274677" "03383" "Familial, X-linked recessive" "19y" "total retinal detachment (HP:0030490)" "" "" "" "" "" "" "" "" "Norrie disease" "Norrie-like retinopathy" "" "0000209616" "00116" "00274678" "03383" "Familial, X-linked recessive" "00y06m" "retinal detachment (HP:0030490), vitreoretinal haemorrhage (HP:0007902)" "" "" "" "" "" "" "" "" "Norrie disease" "Norrie-like retinopathy" "" "0000209617" "04240" "00274679" "03383" "Familial, X-linked" "27y" "exudative vitreoretinopathy (HP:0030490), bilateral phthisis (HP:0000667), subscapular cataract (HP:0000523)" "" "" "" "" "" "" "" "" "X-linked FEVR (EVR type 2)" "familial exudative vitreoretinopathy" "" "0000209618" "04240" "00274680" "03383" "Familial, X-linked" "05y" "exudative vitreoretinopathy (HP:0030490)" "" "" "" "" "" "" "" "" "X-linked FEVR (EVR type 2)" "familial exudative vitreoretinopathy" "" "0000209619" "04240" "00274681" "03383" "Familial, X-linked" "" "exudative vitreoretinopathy (HP:0030490)" "" "" "" "" "" "" "" "" "X-linked FEVR (EVR type 2)" "familial exudative vitreoretinopathy" "" "0000209620" "04240" "00274682" "03383" "Familial, X-linked" "" "exudative vitreoretinopathy (HP:0030490)" "" "" "" "" "" "" "" "" "X-linked FEVR (EVR type 2)" "familial exudative vitreoretinopathy" "" "0000209621" "04240" "00274683" "03383" "Familial, X-linked" "" "exudative vitreoretinopathy (HP:0030490), vitreoretinal traction" "" "" "" "" "" "" "" "" "X-linked FEVR (EVR type 2)" "familial exudative vitreoretinopathy" "" "0000209622" "04240" "00274684" "03383" "Familial, X-linked" "" "exudative vitreoretinopathy (HP:0030490)" "" "" "" "" "" "" "" "" "X-linked FEVR (EVR type 2)" "" "" "0000209623" "04240" "00274685" "03383" "Familial, X-linked" "" "exudative vitreoretinopathy (HP:0030490)" "" "" "" "" "" "" "" "" "X-linked FEVR (EVR type 2)" "" "" "0000209624" "04240" "00274686" "03383" "Familial, X-linked" "" "exudative vitreoretinopathy (HP:0030490)" "" "24y" "" "" "" "" "" "" "X-linked FEVR (EVR type 2)" "" "" "0000209625" "04240" "00274687" "03383" "Familial, X-linked" "" "exudative vitreoretinopathy (HP:0030490)" "" "" "" "" "" "" "" "" "X-linked FEVR (EVR type 2)" "" "" "0000209629" "04240" "00274890" "03383" "Familial, X-linked" "" "exudative vitreoretinopathy (HP:0030490)" "" "10y" "" "" "" "" "" "" "X-linked FEVR (EVR type 2)" "" "" "0000210062" "04240" "00275006" "03383" "Familial, X-linked" "" "exudative vitreoretinpathy (HP:0030490)" "" "" "" "" "" "" "" "" "X-linked FEVR (EVR type 2)" "" "" "0000210066" "04240" "00275440" "03383" "Familial, X-linked" "06y" "exudative vitreoretinopathy (HP:0030490), retinal folds (HP:0008052)" "" "" "" "" "" "" "" "" "X-linked FEVR (EVR type 2)" "familial exudative vitreoretinopathy" "" "0000210068" "04240" "00275443" "03383" "Familial, X-linked" "21y" "exudative vitreoretinopathy (HP:0030490), low bone mineral density (HP:004349)" "" "" "" "" "" "" "" "" "X-linked FEVR (EVR type 2)" "familial exudative vitreoretinopathy" "" "0000210070" "00116" "00275445" "03383" "Familial, X-linked" "01y" "total retinal detachment (HP:0000541)" "00y02m" "" "bilateral leukocoria (HP:0000555)" "" "" "" "" "" "Norrie disease" "Norrie-like retinopathy" "" "0000210072" "00116" "00275447" "03383" "Familial, X-linked" "01y" "" "" "" "" "" "" "" "" "" "Norrie disease" "Norrie-like retinopathy" "" "0000210074" "00116" "00275449" "03383" "Familial, X-linked" "00y04m" "" "" "" "bilateral leukocoria (HP:0000555)" "" "" "" "" "" "Norrie disease" "Norrie-like retinopathy" "" "0000210084" "00116" "00275456" "03383" "Isolated (sporadic)" "" "microphthalmia (HP:0000568), sensorineural hearing loss (HP:0000407), developmental delay (HP:0001249)" "" "" "" "" "" "" "" "" "Norrie disease" "Norrie-like retinopathy" "" "0000220799" "02234" "00287050" "03561" "Familial" "44y" "\"Best-corrected visual acuity: no light pursuit; 0.05\r\nOptometry: NA\r\nintraocular pressure (mmHg): NA; 16\r\nAxial length: NA\r\nCorneal: CO; Normal\r\nLens: Opacity; IOL\r\nVitreous: NA; Normal\r\nFundus: NA; CA\r\nUltrasonography: Atrophy; NA\r\nFFA (fundus fluorescein angiography): NA; NA\"" "" "" "" "" "" "" "" "" "FEVR" "" "" "0000220800" "02234" "00287052" "03561" "Familial" "40y" "\"Best-corrected visual acuity: no light pursuit; hand movement/10 cm\r\nOptometry: NA\r\nintraocular pressure: NA; 8\r\nAxial length: NA\r\nCorneal: CO; Normal\r\nLens: NA;Opacity\r\nVitreous: NA; NA\r\nFundus: NA; NA\r\nUltrasonography: Atrophy; membrane connected with optic disc\r\nFFA(fundus fluorescein angiography): NA; NA\"" "" "" "" "" "" "" "" "" "FEVR" "" "" "0000220801" "02234" "00287053" "03561" "Familial" "13y" "\"best-corrected visual acuity:1.0; 1.0\r\nOptometry: -0.75DS/-3.50 DC*10; +1.25DS/ +1.50DC*80\r\nintraocular pressure (mmHg):12; 12\r\nAxial length: NA\r\nCorneal: Normal Normal\r\nLens: Normal Normal\r\nVitreous: vitreous hemorrhage; vitreous hemorrhage\r\nFundus: brush-like vessels; brush-like vessels\r\nUltrasonography: vitreous hemorrhage; vitreous hemorrhage\r\nFFA: avascular zone; neovascularization\"" "06y" "" "" "" "" "" "" "" "FEVR" "" "" "0000234560" "04214" "00309240" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Norrie Disease" "" "0000234561" "04214" "00309241" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Norrie Disease" "" "0000250477" "04214" "00332290" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" "" "0000250478" "04214" "00332291" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" "" "0000250479" "04214" "00332292" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" "" "0000250480" "04214" "00332293" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" "" "0000250481" "04214" "00332294" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" "" "0000251639" "04214" "00333454" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" "" "0000251640" "04214" "00333455" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "exudative vitreoretinopathy" "" "0000251970" "04214" "00333786" "00000" "Familial, X-linked" "17y" "clinical category IIIE2a" "" "" "" "" "" "" "" "" "" "Norrie disease" "" "0000252923" "04214" "00335208" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal detachment" "" "0000252925" "04214" "00335210" "00000" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinal detachment" "" "0000268724" "04214" "00373448" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "0000268725" "04214" "00373449" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "0000268726" "04214" "00373450" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "0000268727" "04214" "00373451" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "0000268728" "04214" "00373452" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "0000268729" "04214" "00373453" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "0000270633" "04214" "00375419" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000271730" "04214" "00376523" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Exudative Vitreoretinopathy" "" "0000271731" "04214" "00376524" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Exudative Vitreoretinopathy" "" "0000274612" "04214" "00380759" "00000" "Familial, autosomal dominant" "4m" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" "" "0000274613" "04214" "00380760" "00000" "Familial, autosomal dominant" "2y7m" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" "" "0000276475" "04214" "00382626" "00000" "Familial, X-linked" "" "" "2m" "" "" "" "" "" "" "" "" "Norrie disease" "" "0000276479" "04214" "00382630" "00000" "Familial, X-linked" "" "" "4y" "" "" "" "" "" "" "" "" "Norrie disease" "" "0000276480" "04214" "00382631" "00000" "Familial, X-linked" "" "symptomatic carrier" "" "" "" "" "" "" "" "" "" "Norrie disease" "" "0000276481" "04214" "00382632" "00000" "Familial, X-linked" "" "asymptomatic carrier" "" "" "" "" "" "" "" "" "" "Norrie disease" "" "0000276482" "04214" "00382633" "00000" "Familial, X-linked" "0m" "asymptomatic carrier" "" "" "" "" "" "" "" "" "" "Norrie disease" "" "0000277345" "04214" "00383560" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "" "0000277346" "04214" "00383561" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "" "0000277347" "04214" "00383562" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "" "0000277348" "04214" "00383563" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "" "0000277349" "04214" "00383564" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "" "0000277350" "04214" "00383565" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "" "0000277351" "04214" "00383566" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "" "0000277352" "04214" "00383567" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "" "0000277513" "04214" "00383728" "00000" "Familial, autosomal dominant" "" "Total RD, unilateral, OS" "2y" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "Retinal detachment" "" "0000278062" "04214" "00384277" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "family exudative vitreoretinopathy?" "" "0000278063" "04214" "00384278" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "family exudative vitreoretinopathy?" "" "0000278095" "04214" "00384310" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal detachment" "" "0000278097" "04214" "00384312" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal detachment" "" "0000278138" "04214" "00384353" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000278139" "00198" "00384354" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "Coats? retinoblastoma?" "" "0000278145" "04214" "00384360" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "family exudative vitreoretinopathy?" "" "0000278198" "04214" "00384413" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "family exudative vitreoretinopathyou" "" "0000278291" "04214" "00384506" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "family exudative vitreoretinopathy?" "" "0000281228" "04214" "00387665" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "Norrie disease" "Childhood retinal disease" "" "0000281242" "04214" "00387679" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "Other" "" "0000281653" "04214" "00388059" "00000" "Familial, autosomal recessive" "32y" "" "" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" "" "0000281655" "04214" "00388061" "00000" "Familial, autosomal recessive" "" "Leukocoria" "2m" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" "" "0000281658" "04214" "00388064" "00000" "Isolated (sporadic)" "" "Leukocoria" "1m" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy (FEVR)" "" "0000281813" "04214" "00388254" "00000" "Familial, autosomal dominant" "" "stage (right eye/left eye):3a/5a" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "" "" "0000281814" "04214" "00388255" "00000" "Familial, autosomal dominant" "" "unilateral FEVR, stage (right eye/left eye):0/1a" "" "" "" "" "" "" "" "" "Familial exudative vitreoretinopathy" "" "" "0000285109" "04214" "00391795" "00000" "Familial, X-linked dominant" "" "birth weight: 2500g, lesion stage right/left eye: 5/4b, intraocular pressure: 15/6, abnormal fundus in mother" "" "" "" "" "" "" "" "" "ROPER (retinopathy of prematurity vs familial exudative vitreoretinopathy)" "retinopathy of prematurity, atypical" "" "0000285110" "04214" "00391796" "00000" "Familial, X-linked dominant" "" "birth weight: 2250g, lesion stage right/left eye: 5/5, intraocular pressure: 8/8, abnormal fundus in mother" "" "" "" "" "" "" "" "" "ROPER (retinopathy of prematurity vs familial exudative vitreoretinopathy)" "retinopathy of prematurity, atypical" "" "0000285111" "04214" "00391797" "00000" "Isolated (sporadic)" "" "birth weight: 2200g, lesion stage right/left eye: 5/5, intraocular pressure: 23/11" "" "" "" "" "" "" "" "" "ROPER (retinopathy of prematurity vs familial exudative vitreoretinopathy)" "retinopathy of prematurity, atypical" "" "0000287092" "04214" "00393886" "00000" "Familial, X-linked" "29y" "" "" "" "" "" "" "" "" "" "" "Familial Exudative Vitreoretinopathy (FEVR)" "" "0000308396" "00116" "00416884" "00000" "Familial, X-linked recessive" "6y" "best corrected visual acuity right, left eye:light perception,20/60; initial refractive error:+ 0.75 sphere left eye; slit-lamp examination:normal /normal; fundus: avascular periphery total retinal detachment /avascular periphery, retinal detachment" "" "3y" "" "" "" "" "" "" "Norrie disease (ND)" "" "" "0000308397" "00116" "00416885" "00000" "Familial, X-linked recessive" "65y" "best corrected visual acuity right, left eye:hand motions,20/40; initial refractive error:-3.75 sphere left eye; slit-lamp examination:white cataract /posterior subcapsular cataract; fundus: congenital retinal fold /temporal dragging of vessels, avascular periphery, retinal detachment" "" "48y" "" "" "" "" "" "" "Norrie disease (ND)" "" "" "0000308398" "00116" "00416886" "00000" "Familial, X-linked recessive" "61y" "best corrected visual acuity right, left eye:20/25,20/160; initial refractive error:-8.50 sphere right eye; slit-lamp examination:posterior subcapsular cataract /brunescent cataract; fundus: peripheral pigmentary changes /peripheral pigmentary changes" "" "57y" "" "" "" "" "" "" "Norrie disease (ND)" "" "" "0000308399" "00116" "00416887" "00000" "Familial, X-linked recessive" "53y" "best corrected visual acuity right, left eye:light perception,20/30; initial refractive error:-6.75 sphere right eye/ -8.75 sphere left eye; slit-lamp examination:normal /normal; fundus: congenital retinal fold, retinal detachment /normal" "" "6y" "" "" "" "" "" "" "Norrie disease (ND)" "" "" "0000308400" "00116" "00416888" "00000" "Familial, X-linked recessive" "62y" "best corrected visual acuity right, left eye:20/50,count fingers; initial refractive error:-2.00 sphere right eye/left eye; slit-lamp examination:normal /posterior subcapsular cataract; fundus: avascular peripheral retina, peripheral fibrotic ridge, temporal dragging of vessels /avascular peripheral retina, peripheral fibrotic ridge, macular dystrophy" "" "47y" "" "" "" "" "" "" "Norrie disease (ND)" "" "" "0000308401" "00116" "00416889" "00000" "Familial, X-linked recessive" "53y" "best corrected visual acuity right, left eye:enucleation,20/20; initial refractive error:+ 5.00 sphere left eye; slit-lamp examination:enucleation /normal; fundus: retinal detachment /temporal dragging of vessels" "" "14y" "" "" "" "" "" "" "Norrie disease (ND)" "" "" "0000308402" "00116" "00416890" "00000" "Familial, X-linked recessive" "33y" "best corrected visual acuity right, left eye:20/20,no light perception; initial refractive error:+ 1.00 sphere right eye; slit-lamp examination:normal /white cataract; fundus: temporal dragging of vessels, abnormal vessels /retinal detachment" "" "13y" "" "" "" "" "" "" "Norrie disease (ND)" "" "" "0000308403" "00116" "00416891" "00000" "Familial, X-linked recessive" "79y" "best corrected visual acuity right, left eye:20/30,20/30; initial refractive error:+ 1.00 sphere right eye/left eye; slit-lamp examination:2 + nuclear sclerosis /2 + nuclear sclerosis; fundus: mild peripheral and central retinal pigment epithelial changes /mild peripheral and central retinal pigment epithelial changes" "" "71y" "" "" "" "" "" "" "Norrie disease (ND)" "" "" "0000308404" "00116" "00416892" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "Norrie disease (ND)" "" "" "0000308405" "00116" "00416893" "00000" "Familial, X-linked recessive" "" "moderately affected, FEVR" "" "" "" "" "" "" "" "" "Norrie disease (ND)" "" "" "0000308406" "00116" "00416894" "00000" "Familial, X-linked recessive" "" "Norrie disease" "0m" "" "pseudoglioma" "" "" "" "" "" "Norrie disease (ND)" "" "" "0000308407" "02234" "00416895" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308408" "02234" "00416896" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308409" "02234" "00416897" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308410" "02234" "00416898" "00000" "Familial, X-linked recessive" "15y" "0m: retina: avascular temporal peripheries and vascular shunts at the site of the joining of the vascularized and avascularized tissue similar to that observed in retinopathy of prematurity; treated with cryotherapy, maintained their sight; myopia" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308411" "02234" "00416899" "00000" "Familial, X-linked recessive" "11y" "0m: retina: avascular temporal peripheries and vascular shunts at the site of the joining of the vascularized and avascularized tissue similar to that observed in retinopathy of prematurity; treated with cryotherapy, maintained their sight; myopia" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308412" "02234" "00416900" "00000" "Familial, X-linked recessive" "33y" "blind in the right eye by 13y; right eye: phthisis, atrophy of the iris, a dense cataract and nystagmus; left eye: visual acuity: 4/60, large falciform retinal fold; 18y: left retina detached with a large yellow exudate present underneath the retina; fibrous tissue and vitreous thickening were with neovascularization leading to leakage; deterioration of sight in the left eye treated by cryocoagulation and the patient has subsequently maintained the visual acuity in this eye" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308413" "02234" "00416901" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308414" "02234" "00416902" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308415" "02234" "00416903" "00000" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308416" "02234" "00416904" "00000" "Familial, X-linked recessive" "29y" "right eye enucleated due to intraocular tumor suspicion after recurrent iritis, histological examination: severe intraocular inflammation without any malignancy; visual acuity on the left eye remained unchanged until adulthood; last few years a slight decrease of visual acuity; 29y: visual acuity: 20/300 with medium myopia ( -3.0 diopters) and nystagmus; anterior segment: normal; retina: severe temporal dragging of the vessels, including the macula where scar with peripheral hyperpigmentation and central depigmentation was noticed; no exudates present, it cannot be excluded that areas of central and peripheral scars have been partly induced by retinal exudates; peripheral retina: pigmentation between the equator and the ora serrata on the temporal side, nasally, equatorial degenerations present" "0m" "" "low visual acuity" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308418" "02234" "00416906" "00000" "Familial, X-linked recessive" "" "whole family description: characteristic ophthalmological findings of Norrie disease; but no mental retardation or hearing abnormality" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308419" "02234" "00416907" "00000" "Familial, X-linked recessive" "" "whole family description: characteristic ophthalmological findings of Norrie disease; but no mental retardation or hearing abnormality" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308420" "02234" "00416908" "00000" "Familial, X-linked recessive" "" "whole family description: characteristic ophthalmological findings of Norrie disease; but no mental retardation or hearing abnormality" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308421" "02234" "00416909" "00000" "Familial, X-linked recessive" "" "whole family description: characteristic ophthalmological findings of Norrie disease; but no mental retardation or hearing abnormality" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308422" "02234" "00416910" "00000" "Familial, X-linked recessive" "" "whole family description: characteristic ophthalmological findings of Norrie disease; but no mental retardation or hearing abnormality" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308423" "02234" "00416911" "00000" "Familial, X-linked recessive" "3m" "3 months for poor visual development; term infant, birth weight of 3,000 g, otherwise healthy; pendular nystagmus; corneae: clear, anterior chambers: shallow; ophthalmoscopy: large retinal folds and a white temporal mass of apparent exudate that pulled the retinal vessels toward the temporal ora serrata and attached near the temporal posterior edge of the lens; bilateral congenital retinal folds initially diagnosed" "" "3m" "poor visual development" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308424" "02234" "00416912" "00000" "Familial, X-linked recessive" "" "all relatives of the proband description: symptoms of retinal traction, peripheral vitreous opacities, and subretinal and intraretinal exudates" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308425" "02234" "00416913" "00000" "Familial, X-linked recessive" "" "all relatives of the proband description: symptoms of retinal traction, peripheral vitreous opacities, and subretinal and intraretinal exudates" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308426" "02234" "00416914" "00000" "Familial, X-linked recessive" "" "all relatives of the proband description: symptoms of retinal traction, peripheral vitreous opacities, and subretinal and intraretinal exudates" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308427" "02234" "00416915" "00000" "Familial, X-linked recessive" "" "all relatives of the proband description: symptoms of retinal traction, peripheral vitreous opacities, and subretinal and intraretinal exudates" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308428" "02234" "00416916" "00000" "Familial, X-linked recessive" "" "all relatives of the proband description: symptoms of retinal traction, peripheral vitreous opacities, and subretinal and intraretinal exudates" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308429" "02234" "00416918" "00000" "Familial, X-linked" "" "whole family description: congenital blindness and hearing loss; diagnosed as having Norrie disease; proband born in to healthy parents with an uncomplicated delivery; maternal uncle, maternal grandmother and maternal grand uncles had a history of congenital blindness and hearing loss; 14d: bilateral tractional retinal detachments andvitreous hemorrhage with normal anterior segments and clear lenses; mother phenotypically completely normal" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308430" "02234" "00416919" "00000" "Familial, X-linked" "" "whole family description: congenital blindness and hearing loss; diagnosed as having Norrie disease" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308431" "02234" "00416920" "00000" "Familial, X-linked" "" "whole family description: congenital blindness and hearing loss; diagnosed as having Norrie disease" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308432" "02234" "00416921" "00000" "Familial, X-linked" "" "whole family description: congenital blindness and hearing loss; diagnosed as having Norrie disease" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308433" "02234" "00416922" "00000" "Familial, X-linked" "" "whole family description: congenital blindness and hearing loss; diagnosed as having Norrie disease" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308434" "02234" "00416923" "00000" "Familial, X-linked" "" "whole family description: congenital blindness and hearing loss; diagnosed as having Norrie disease" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308435" "02234" "00416924" "00000" "Familial, X-linked" "" "whole family description: congenital blindness and hearing loss; diagnosed as having Norrie disease" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308436" "02234" "00416925" "00000" "Familial, X-linked" "" "full term pregnancy, born to healthy non-consanguinous parents with an uncomplicated delivery; ophthalmic examinalion: retinal fold extending towards the retinal periphery, an intravitreous fibrous mass and membrane, vitreous detachment and peripheral exudates at the junction between the avascular and vascular retina; no exposure to supplemental oxygen" "" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308454" "02234" "00416943" "00000" "Familial, X-linked" "2y" "1y: fundoscopy (general anaesthesia): inferotemporal peripheral vascular and gliotic changes in the right eye and a dragged macula with retinal exudation in the left eye; right eye treated with retinal laser photocoagulation and the left developed a total retinal detachment" "1y" "" "left esotropia and an abnormal red reflex in the left eye" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308477" "02234" "00416966" "00000" "Familial, X-linked" "" "no hearing impairment" "4y" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308478" "02234" "00416967" "00000" "Familial, X-linked" "" "no hearing impairment" "3y" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308479" "00116" "00416968" "00000" "Familial, X-linked" "" "no hearing impairment" "4m" "" "" "" "" "" "" "" "Norrie disease" "" "" "0000308480" "02234" "00416969" "00000" "Familial, X-linked" "" "no hearing impairment; additional disease - glucose-6-phosphate dehydrogenase deficiency" "3m" "" "" "" "" "" "" "" "persistent fetal vasculature syndrome" "" "" "0000308481" "02234" "00416970" "00000" "Familial, X-linked" "" "no hearing impairment" "3m" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308482" "00116" "00416971" "00000" "Familial, X-linked" "" "no hearing impairment" "2m" "" "" "" "" "" "" "" "Norrie disease" "" "" "0000308483" "00116" "00416972" "00000" "Familial, X-linked" "" "hearing impairment" "0m" "" "" "" "" "" "" "" "Norrie disease" "" "" "0000308484" "00116" "00416973" "00000" "Familial, X-linked" "" "no hearing impairment" "0m" "" "" "" "" "" "" "" "Norrie disease" "" "" "0000308485" "00116" "00416974" "00000" "Familial, X-linked" "" "no hearing impairment" "1m" "" "" "" "" "" "" "" "Norrie disease" "" "" "0000308486" "05301" "00416975" "00000" "Familial, X-linked" "" "no hearing impairment" "5m" "" "" "" "" "" "" "" "retinopathy of prematurity" "" "" "0000308488" "02234" "00416977" "03840" "Familial, X-linked" "" "no hearing impairment" "01y06m" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308496" "02234" "00416985" "00000" "Familial, X-linked" ">18y" "best corrected visual acuity right/left eye: no light pursuit/0.05; optometry: not available; intraocular pressure right, left eye: (mmHg): not available, 16; cornea right, left eye: corneal opacity, normal; lens right, left eye: opacity, intraocular lens; vitreous: not available; normal; fundus: not available, chorioretinal atrophy; ultrasonography: atrophy, not available; fundus fluorescein: not available, not available" "44y" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308497" "02234" "00416986" "00000" "Familial, X-linked" ">18y" "best corrected visual acuity right/left eye: no light pursuit/hand movement 10 cm; optometry: not available; intraocular pressure right, left eye: (mmHg): not available, 8; cornea right, left eye: corneal opacity, normal; lens right, left eye: not available, opacity; vitreous: not available, not available; fundus: not available, not available; ultrasonography: atrophy, membrane connected with optic disc; fundus fluorescein: not available, not available" "40y" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000308498" "02234" "00416987" "00000" "Familial, X-linked" "6y" "best corrected visual acuity right/left eye: 1/1; optometry: -0.75DS/-3.50DC*10; +1.25DS/+1.50DC*80; intraocular pressure right, left eye: (mmHg): 12, 12; cornea right, left eye: normal, normal; lens right, left eye: normal, normal; vitreous: vitreous hemorrhage, vitreous hemorrhage; fundus: brush-like vessels, brush-like vessels; ultrasonography: vitreous hemorrhage, vitreous hemorrhage; fundus fluorescein: avascular zone, not available" "13y" "" "" "" "" "" "" "" "familial exudative vitreoretinopathy" "" "" "0000319219" "05094" "00428315" "00006" "Familial, autosomal recessive" "31y" "uncomplicated pregnancy; born at term, normal weight, not following moving light stimuli; 31y-no light sensation, enophthalmos, severe ocular shrinkage, horizontal distribution central corneal porcelain white plaque, growth of neovascularizations and other intraocular structures not observed; psychomotor development, normal, auditive evaluation normal" "" "" "" "" "" "" "" "" "ND" "congenital blindness" "" "0000319220" "05094" "00428316" "00006" "Familial, X-linked recessive" "35y" "born at term, normal weight; early childhood bilateral blindness; 35y-no light sensation, enophthalmos, ocular shrinkage, corneal leukoma, no growth of massive neovascularizations/other intraocular structures; mild sensorineural deafness; MRI brain normal; mild cognitive impairment (22/30)" "" "" "" "" "" "" "" "" "ND" "congenital blindness" "" "0000340217" "00198" "00451542" "04543" "Familial, X-linked recessive" "36y" "no night vision; no perception light; no nystagmus; no corneal haze; no photophobia; mild intellectual disability, microcornea" "<1y" "" "" "" "" "" "" "" "ND" "Leber congenital amaurosis" "" "0000340218" "00198" "00451543" "04543" "Familial, X-linked recessive" "31y" "no night vision; no perception light; no nystagmus; no corneal haze; no photophobia; mild intellectual disability, microcornea" "<1y" "" "" "" "" "" "" "" "ND" "Leber congenital amaurosis" "" "0000347426" "04240" "00458996" "00006" "Familial, X-linked recessive" "00y02m" "see paper; ..., exudative vitreoretinopathy; no developmental delay" "" "" "" "" "" "" "" "" "EVR2" "exudative vitreoretinopathy" "" "0000347482" "02262" "00459404" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "RS1" "retinoschisis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 205 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000421" "00000396" "1" "00015" "00015" "2013-03-13 15:37:16" "" "" "PCR;SEQ" "DNA" "" "" "0000037617" "00037523" "1" "01239" "01239" "2015-04-08 17:14:18" "" "" "PCR" "DNA" "" "" "0000037621" "00037527" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037622" "00037528" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037623" "00037529" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037624" "00037530" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037625" "00037531" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037626" "00037532" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037627" "00037533" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037628" "00037534" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037629" "00037535" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037630" "00037536" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037631" "00037537" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037632" "00037538" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037633" "00037539" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037634" "00037540" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037635" "00037541" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037636" "00037542" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037637" "00037543" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037638" "00037544" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037639" "00037545" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037640" "00037546" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037641" "00037547" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037642" "00037548" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037643" "00037549" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037644" "00037550" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037645" "00037551" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037646" "00037552" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037647" "00037553" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037648" "00037554" "1" "01251" "01251" "2010-06-11 20:23:49" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037649" "00037555" "1" "01251" "01251" "2010-06-11 20:23:49" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037650" "00037556" "1" "01251" "01251" "2010-06-11 20:23:49" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037651" "00037557" "1" "01251" "01251" "2010-06-11 20:23:49" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037652" "00037558" "1" "01251" "01251" "2010-06-11 20:23:49" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037653" "00037559" "1" "01251" "01251" "2010-06-11 20:23:49" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037654" "00037560" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037655" "00037561" "1" "01251" "01251" "2010-06-11 20:23:49" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037656" "00037562" "1" "01251" "01251" "2010-06-11 20:23:49" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037657" "00037563" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037658" "00037564" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037659" "00037565" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037660" "00037566" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000037661" "00037567" "1" "01251" "01251" "2010-06-11 20:10:08" "00006" "2013-01-05 10:05:42" "SEQ" "DNA" "" "" "0000264408" "00263089" "1" "03383" "03383" "2019-08-24 13:07:35" "" "" "SEQ" "DNA" "peripheral blood leukocytes" "gene panel" "0000264409" "00263295" "1" "03383" "03383" "2019-08-24 13:14:41" "" "" "SEQ" "DNA" "peripheral blood leukocytes" "gene panel" "0000266453" "00265315" "1" "03383" "03383" "2019-09-20 18:04:08" "" "" "PCR" "DNA" "peripheral venous leukocytes" "" "0000266471" "00265352" "1" "03383" "03383" "2019-09-21 16:10:49" "" "" "SEQ" "DNA" "" "direct sequencing" "0000266472" "00265353" "1" "03383" "03383" "2019-09-21 16:20:05" "" "" "SEQ" "DNA" "" "direct sequencing" "0000266473" "00265354" "1" "03383" "03383" "2019-09-21 16:26:11" "" "" "SEQ" "DNA" "" "direct sequencing" "0000266474" "00265355" "1" "03383" "03383" "2019-09-21 16:54:17" "" "" "SEQ" "DNA" "" "direct sequencing" "0000275616" "00274456" "1" "03383" "03383" "2019-12-31 15:16:17" "" "" "PCR" "DNA" "" "direct sequencing" "0000275617" "00274457" "1" "03383" "03383" "2019-12-31 15:27:34" "" "" "PCR" "DNA" "" "direct sequencing" "0000275618" "00274458" "1" "03383" "03383" "2019-12-31 15:35:29" "" "" "PCR" "DNA" "" "direct sequencing" "0000275619" "00274459" "1" "03383" "03383" "2019-12-31 15:48:14" "" "" "PCR" "DNA" "" "direct sequencing" "0000275835" "00274675" "1" "03383" "03383" "2020-01-02 14:11:30" "" "" "PCR" "DNA" "" "direct sequencing" "0000275836" "00274676" "1" "03383" "03383" "2020-01-02 14:22:50" "" "" "PCR" "DNA" "" "direct sequencing" "0000275837" "00274677" "1" "03383" "03383" "2020-01-02 14:56:57" "" "" "PCR" "DNA" "" "direct sequencing" "0000275838" "00274678" "1" "03383" "03383" "2020-01-02 15:09:01" "" "" "PCR" "DNA" "" "direct sequencing" "0000275839" "00274679" "1" "03383" "03383" "2020-01-02 15:25:56" "" "" "PCR" "DNA" "" "direct sequencing" "0000275840" "00274680" "1" "03383" "03383" "2020-01-02 15:34:47" "" "" "PCR" "DNA" "" "direct sequencing" "0000275841" "00274681" "1" "03383" "03383" "2020-01-02 15:53:22" "" "" "PCR" "DNA" "" "" "0000275842" "00274682" "1" "03383" "03383" "2020-01-02 16:41:01" "" "" "PCR" "DNA" "" "" "0000275843" "00274683" "1" "03383" "03383" "2020-01-02 16:48:04" "" "" "PCR" "DNA" "" "direct sequencing" "0000275844" "00274684" "1" "03383" "03383" "2020-01-02 16:56:14" "" "" "PCR" "DNA" "" "direct sequencing" "0000275845" "00274685" "1" "03383" "03383" "2020-01-02 17:02:51" "" "" "PCR" "DNA" "" "direct sequencing" "0000275846" "00274686" "1" "03383" "03383" "2020-01-02 17:12:02" "" "" "PCR" "DNA" "" "direct sequencing" "0000275847" "00274687" "1" "03383" "03383" "2020-01-02 17:18:34" "" "" "PCR" "DNA" "" "direct sequencing" "0000275848" "00274688" "1" "03383" "03383" "2020-01-02 17:28:35" "" "" "PCR" "DNA" "" "direct sequencing" "0000275850" "00274690" "1" "03383" "03383" "2020-01-02 17:33:17" "" "" "PCR" "DNA" "" "direct sequencing" "0000275851" "00274691" "1" "03383" "03383" "2020-01-02 17:38:40" "" "" "PCR" "DNA" "" "direct sequencing" "0000276050" "00274890" "1" "03383" "03383" "2020-01-03 15:16:16" "" "" "PCR" "DNA" "" "direct sequencing" "0000276166" "00275006" "1" "03383" "03383" "2020-01-03 16:03:01" "" "" "PCR" "DNA" "" "direct sequencing" "0000276600" "00275440" "1" "03383" "03383" "2020-01-04 16:18:31" "" "" "PCR" "DNA" "" "direct sequencing" "0000276602" "00275443" "1" "03383" "03383" "2020-01-04 16:25:57" "" "" "PCR" "DNA" "" "direct sequencing" "0000276604" "00275445" "1" "03383" "03383" "2020-01-04 16:34:33" "" "" "PCR" "DNA" "" "direct sequencing" "0000276606" "00275447" "1" "03383" "03383" "2020-01-04 16:38:46" "" "" "PCR" "DNA" "" "direct sequencing" "0000276608" "00275449" "1" "03383" "03383" "2020-01-04 16:49:40" "" "" "?" "DNA" "" "direct sequencing" "0000276615" "00275456" "1" "03383" "03383" "2020-01-04 17:54:10" "03383" "2020-01-04 18:14:34" "?" "DNA" "" "" "0000276632" "00275473" "1" "03383" "03383" "2020-01-04 20:09:25" "" "" "PCR" "DNA" "" "direct sequencing" "0000276633" "00275474" "1" "03383" "03383" "2020-01-04 20:31:01" "" "" "PCR" "DNA" "" "direct sequencing" "0000276634" "00275475" "1" "03383" "03383" "2020-01-04 20:35:50" "" "" "PCR" "DNA" "" "direct sequencing" "0000276636" "00275477" "1" "03383" "03383" "2020-01-04 20:46:38" "" "" "PCR" "DNA" "" "direct sequencing" "0000288214" "00287050" "1" "03561" "03561" "2020-02-11 15:12:04" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "Sanger sequencing" "0000288216" "00287052" "1" "03561" "03561" "2020-02-11 15:17:43" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "Sanger sequencing" "0000288217" "00287053" "1" "03561" "03561" "2020-02-11 15:25:05" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "Sanger sequencing" "0000296230" "00295062" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306433" "00305304" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000310385" "00309240" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310386" "00309241" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000333510" "00332290" "1" "00000" "00006" "2021-02-16 19:20:15" "" "" "SEQ" "DNA" "" "" "0000333511" "00332291" "1" "00000" "00006" "2021-02-16 19:20:15" "" "" "SEQ" "DNA" "" "" "0000333512" "00332292" "1" "00000" "00006" "2021-02-16 19:20:15" "" "" "SEQ" "DNA" "" "" "0000333513" "00332293" "1" "00000" "00006" "2021-02-16 19:20:15" "" "" "SEQ" "DNA" "" "" "0000333514" "00332294" "1" "00000" "00006" "2021-02-16 19:20:15" "" "" "SEQ" "DNA" "" "" "0000334679" "00333454" "1" "00000" "00006" "2021-02-25 16:04:58" "" "" "SEQ" "DNA" "" "" "0000334680" "00333455" "1" "00000" "00006" "2021-02-25 16:04:58" "" "" "SEQ" "DNA" "" "" "0000335012" "00333786" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000336437" "00335208" "1" "00000" "00006" "2021-03-04 13:13:00" "" "" "arraySNP;SEQ-NG" "DNA" "" "gene panel" "0000336439" "00335210" "1" "00000" "00006" "2021-03-04 13:13:00" "" "" "arraySNP;SEQ-NG" "DNA" "" "gene panel" "0000374683" "00373448" "1" "00000" "00006" "2021-05-14 15:31:46" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000374684" "00373449" "1" "00000" "00006" "2021-05-14 15:31:46" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000374685" "00373450" "1" "00000" "00006" "2021-05-14 15:31:46" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000374686" "00373451" "1" "00000" "00006" "2021-05-14 15:31:46" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000374687" "00373452" "1" "00000" "00006" "2021-05-14 15:31:46" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000374688" "00373453" "1" "00000" "00006" "2021-05-14 15:31:46" "" "" "SEQ-NG" "DNA" "" "163-gene panel" "0000376616" "00375419" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000377728" "00376523" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ" "DNA" "blood" "" "0000377729" "00376524" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ" "DNA" "blood" "" "0000381973" "00380759" "1" "00000" "03840" "2021-08-23 12:02:42" "" "" "SEQ-NG" "DNA" "blood" "" "0000381974" "00380760" "1" "00000" "03840" "2021-08-23 12:02:42" "" "" "SEQ-NG" "DNA" "blood" "" "0000383840" "00382626" "1" "00000" "03840" "2021-09-09 12:48:24" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000383844" "00382630" "1" "00000" "03840" "2021-09-09 12:48:24" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000383845" "00382631" "1" "00000" "03840" "2021-09-09 12:48:24" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000383846" "00382632" "1" "00000" "03840" "2021-09-09 12:48:24" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000383847" "00382633" "1" "00000" "03840" "2021-09-09 12:48:24" "" "" "SEQ-NG;SEQ" "DNA" "amniotic fluid" "" "0000384785" "00383560" "1" "00000" "03840" "2021-09-29 12:07:04" "" "" "SEQ-NG" "DNA" "blood" "" "0000384786" "00383561" "1" "00000" "03840" "2021-09-29 12:07:04" "" "" "SEQ-NG" "DNA" "blood" "" "0000384787" "00383562" "1" "00000" "03840" "2021-09-29 12:07:04" "" "" "SEQ-NG" "DNA" "blood" "" "0000384788" "00383563" "1" "00000" "03840" "2021-09-29 12:07:04" "" "" "SEQ-NG" "DNA" "blood" "" "0000384789" "00383564" "1" "00000" "03840" "2021-09-29 12:07:04" "" "" "SEQ-NG" "DNA" "blood" "" "0000384790" "00383565" "1" "00000" "03840" "2021-09-29 12:07:04" "" "" "SEQ-NG" "DNA" "blood" "" "0000384791" "00383566" "1" "00000" "03840" "2021-09-29 12:07:04" "" "" "SEQ-NG" "DNA" "blood" "" "0000384792" "00383567" "1" "00000" "03840" "2021-09-29 12:07:04" "" "" "SEQ-NG" "DNA" "blood" "" "0000384953" "00383728" "1" "00000" "03840" "2021-09-29 12:31:11" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000385502" "00384277" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385503" "00384278" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385535" "00384310" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385537" "00384312" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385578" "00384353" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385579" "00384354" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385585" "00384360" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385638" "00384413" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385731" "00384506" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000388891" "00387665" "1" "00000" "03840" "2021-10-29 23:13:01" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000388905" "00387679" "1" "00000" "03840" "2021-10-29 23:13:01" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000389298" "00388059" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ" "DNA" "blood" "" "0000389300" "00388061" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ" "DNA" "blood" "" "0000389303" "00388064" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ" "DNA" "blood" "" "0000389493" "00388254" "1" "00000" "03840" "2021-11-03 10:13:08" "" "" "SEQ-NG" "DNA" "blood" "targeted next-generation sequencing in six FEVR known genes" "0000389494" "00388255" "1" "00000" "03840" "2021-11-03 10:13:08" "" "" "SEQ-NG" "DNA" "blood" "targeted next-generation sequencing in six FEVR known genes" "0000393038" "00391795" "1" "00000" "03840" "2021-11-19 11:12:21" "" "" "SEQ-NG" "DNA" "blood" "" "0000393039" "00391796" "1" "00000" "03840" "2021-11-19 11:12:21" "" "" "SEQ-NG" "DNA" "blood" "" "0000393040" "00391797" "1" "00000" "03840" "2021-11-19 11:12:21" "" "" "SEQ-NG" "DNA" "blood" "" "0000395134" "00393886" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG;PCRq" "DNA" "" "hereditary eye disease enrichment panel (HEDEP); quantitative fluorescence PCR (QF-PCR)" "0000418167" "00416884" "1" "00000" "03840" "2022-09-09 13:06:13" "03840" "2022-09-09 14:17:10" "SEQ;SSCA" "DNA" "blood" "anna_tracewska" "0000418168" "00416885" "1" "00000" "03840" "2022-09-09 13:06:13" "03840" "2022-09-09 14:14:23" "SEQ;SSCA" "DNA" "blood" "" "0000418169" "00416886" "1" "00000" "03840" "2022-09-09 13:06:13" "03840" "2022-09-09 14:14:52" "SEQ;SSCA" "DNA" "blood" "" "0000418170" "00416887" "1" "00000" "03840" "2022-09-09 13:06:13" "03840" "2022-09-09 14:15:07" "SEQ;SSCA" "DNA" "blood" "" "0000418171" "00416888" "1" "00000" "03840" "2022-09-09 13:06:13" "03840" "2022-09-09 14:15:25" "SEQ;SSCA" "DNA" "blood" "" "0000418172" "00416889" "1" "00000" "03840" "2022-09-09 13:06:13" "03840" "2022-09-09 14:15:44" "SEQ;SSCA" "DNA" "blood" "" "0000418173" "00416890" "1" "00000" "03840" "2022-09-09 13:06:13" "03840" "2022-09-09 14:15:57" "SEQ;SSCA" "DNA" "blood" "" "0000418174" "00416891" "1" "00000" "03840" "2022-09-09 13:06:13" "03840" "2022-09-09 14:16:10" "SEQ;SSCA" "DNA" "blood" "" "0000418175" "00416892" "1" "00000" "03840" "2022-09-09 13:06:13" "03840" "2022-09-09 14:17:10" "SEQ;SSCA" "DNA" "blood" "anna_tracewska" "0000418176" "00416893" "1" "00000" "03840" "2022-09-09 13:06:13" "03840" "2022-09-09 14:17:10" "SEQ;SSCA" "DNA" "blood" "anna_tracewska" "0000418177" "00416894" "1" "00000" "03840" "2022-09-09 13:06:13" "03840" "2022-09-09 14:17:10" "SEQ;SSCA" "DNA" "blood" "anna_tracewska" "0000418178" "00416895" "1" "00000" "03840" "2022-09-09 15:12:06" "" "" "STR;SEQ" "DNA" "blood" "" "0000418179" "00416896" "1" "00000" "03840" "2022-09-09 15:12:06" "" "" "STR;SEQ" "DNA" "blood" "" "0000418180" "00416897" "1" "00000" "03840" "2022-09-09 15:12:06" "" "" "STR;SEQ" "DNA" "blood" "" "0000418181" "00416898" "1" "00000" "03840" "2022-09-09 15:34:26" "" "" "STR;SSCA;SEQ" "DNA" "blood" "" "0000418182" "00416899" "1" "00000" "03840" "2022-09-09 15:34:26" "" "" "STR;SSCA;SEQ" "DNA" "blood" "" "0000418183" "00416900" "1" "00000" "03840" "2022-09-09 15:34:26" "" "" "STR;SSCA;SEQ" "DNA" "blood" "" "0000418184" "00416901" "1" "00000" "03840" "2022-09-09 15:34:26" "" "" "STR;SSCA;SEQ" "DNA" "blood" "" "0000418185" "00416902" "1" "00000" "03840" "2022-09-09 15:34:26" "" "" "STR;SSCA;SEQ" "DNA" "blood" "" "0000418186" "00416903" "1" "00000" "03840" "2022-09-09 15:34:26" "" "" "STR;SSCA;SEQ" "DNA" "blood" "" "0000418187" "00416904" "1" "00000" "03840" "2022-09-09 15:50:29" "" "" "STR;SEQ" "DNA" "blood" "" "0000418189" "00416906" "1" "00000" "03840" "2022-09-09 19:20:30" "" "" "SSCA;RFLP;SEQ" "DNA" "blood" "" "0000418190" "00416907" "1" "00000" "03840" "2022-09-09 19:20:30" "" "" "SSCA;RFLP;SEQ" "DNA" "blood" "" "0000418191" "00416908" "1" "00000" "03840" "2022-09-09 19:20:30" "" "" "SSCA;RFLP;SEQ" "DNA" "blood" "" "0000418192" "00416909" "1" "00000" "03840" "2022-09-09 19:20:30" "" "" "SSCA;RFLP;SEQ" "DNA" "blood" "" "0000418193" "00416910" "1" "00000" "03840" "2022-09-09 19:20:30" "" "" "SSCA;RFLP;SEQ" "DNA" "blood" "" "0000418194" "00416911" "1" "00000" "03840" "2022-09-09 19:20:30" "" "" "SSCA;SEQ" "DNA" "blood" "DNA enzyme immunoassay" "0000418195" "00416912" "1" "00000" "03840" "2022-09-09 19:20:30" "" "" "SSCA;SEQ" "DNA" "blood" "DNA enzyme immunoassay" "0000418196" "00416913" "1" "00000" "03840" "2022-09-09 19:20:30" "" "" "SSCA;SEQ" "DNA" "blood" "DNA enzyme immunoassay" "0000418197" "00416914" "1" "00000" "03840" "2022-09-09 19:20:30" "" "" "SSCA;SEQ" "DNA" "blood" "DNA enzyme immunoassay" "0000418198" "00416915" "1" "00000" "03840" "2022-09-09 19:20:30" "" "" "SSCA;SEQ" "DNA" "blood" "DNA enzyme immunoassay" "0000418199" "00416916" "1" "00000" "03840" "2022-09-09 19:20:30" "" "" "SSCA;SEQ" "DNA" "blood" "DNA enzyme immunoassay" "0000418200" "00416918" "1" "00000" "03840" "2022-09-10 20:47:00" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000418201" "00416919" "1" "00000" "03840" "2022-09-10 20:47:00" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000418202" "00416920" "1" "00000" "03840" "2022-09-10 20:47:00" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000418203" "00416921" "1" "00000" "03840" "2022-09-10 20:47:00" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000418204" "00416922" "1" "00000" "03840" "2022-09-10 20:47:00" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000418205" "00416923" "1" "00000" "03840" "2022-09-10 20:47:00" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000418206" "00416924" "1" "00000" "03840" "2022-09-10 20:47:00" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000418207" "00416925" "1" "00000" "03840" "2022-09-10 20:47:00" "" "" "SSCA;SEQ" "DNA" "blood" "" "0000418226" "00416943" "1" "00000" "03840" "2022-09-12 11:09:50" "" "" "SEQ" "DNA" "blood" "" "0000418249" "00416966" "1" "00000" "03840" "2022-09-12 11:14:36" "" "" "SEQ" "DNA" "blood" "" "0000418250" "00416967" "1" "00000" "03840" "2022-09-12 11:14:36" "" "" "SEQ" "DNA" "blood" "" "0000418251" "00416968" "1" "00000" "03840" "2022-09-12 11:14:36" "" "" "SEQ" "DNA" "blood" "" "0000418252" "00416969" "1" "00000" "03840" "2022-09-12 11:14:36" "" "" "SEQ" "DNA" "blood" "" "0000418253" "00416970" "1" "00000" "03840" "2022-09-12 11:14:36" "" "" "SEQ" "DNA" "blood" "" "0000418254" "00416971" "1" "00000" "03840" "2022-09-12 11:14:36" "" "" "SEQ" "DNA" "blood" "" "0000418255" "00416972" "1" "00000" "03840" "2022-09-12 11:14:36" "" "" "SEQ" "DNA" "blood" "" "0000418256" "00416973" "1" "00000" "03840" "2022-09-12 11:14:36" "" "" "SEQ" "DNA" "blood" "" "0000418257" "00416974" "1" "00000" "03840" "2022-09-12 11:14:36" "" "" "SEQ" "DNA" "blood" "" "0000418258" "00416975" "1" "00000" "03840" "2022-09-12 11:14:36" "" "" "SEQ" "DNA" "blood" "" "0000418260" "00416977" "1" "03840" "03840" "2022-09-12 11:22:49" "" "" "SEQ" "DNA" "blood" "" "0000418268" "00416985" "1" "00000" "03840" "2022-09-12 12:58:00" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "whole exome sequencing" "0000418269" "00416986" "1" "00000" "03840" "2022-09-12 12:58:00" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "whole exome sequencing" "0000418270" "00416987" "1" "00000" "03840" "2022-09-12 12:58:00" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "whole exome sequencing" "0000429727" "00428315" "1" "00006" "00006" "2022-12-31 11:16:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES clinical" "0000429728" "00428316" "1" "00006" "00006" "2022-12-31 11:23:32" "" "" "PCR;SEQ;SEQ-NG" "DNA" "" "WES clinical" "0000453143" "00451542" "1" "04543" "00006" "2024-06-10 15:00:36" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIPs, WGS" "0000453144" "00451543" "1" "04543" "00006" "2024-06-10 15:00:36" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIPs, WGS" "0000460617" "00458996" "1" "00006" "00006" "2024-12-23 14:20:57" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000461025" "00459404" "1" "00006" "00006" "2024-12-25 08:23:52" "00006" "2024-12-25 08:45:39" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 204 "{{screeningid}}" "{{geneid}}" "0000000421" "NDP" "0000037617" "NDP" "0000037621" "NDP" "0000037622" "NDP" "0000037623" "NDP" "0000037624" "NDP" "0000037625" "NDP" "0000037626" "NDP" "0000037627" "NDP" "0000037628" "NDP" "0000037629" "NDP" "0000037630" "NDP" "0000037631" "NDP" "0000037632" "NDP" "0000037633" "NDP" "0000037634" "NDP" "0000037635" "NDP" "0000037636" "NDP" "0000037637" "NDP" "0000037638" "NDP" "0000037639" "NDP" "0000037640" "NDP" "0000037641" "NDP" "0000037642" "NDP" "0000037643" "NDP" "0000037644" "NDP" "0000037645" "NDP" "0000037646" "NDP" "0000037647" "NDP" "0000037648" "NDP" "0000037649" "NDP" "0000037650" "NDP" "0000037651" "NDP" "0000037652" "NDP" "0000037653" "NDP" "0000037654" "NDP" "0000037655" "NDP" "0000037656" "NDP" "0000037657" "NDP" "0000037658" "NDP" "0000037659" "NDP" "0000037660" "NDP" "0000037661" "NDP" "0000264408" "FZD4" "0000264408" "LRP5" "0000264408" "NDP" "0000264408" "TSPAN12" "0000264408" "ZNF408" "0000264409" "FZD4" "0000264409" "LRP5" "0000264409" "NDP" "0000264409" "TSPAN12" "0000264409" "ZNF408" "0000266453" "NDP" "0000266471" "NDP" "0000266472" "NDP" "0000266473" "NDP" "0000266474" "NDP" "0000275616" "NDP" "0000275617" "NDP" "0000275618" "NDP" "0000275619" "NDP" "0000275835" "NDP" "0000275836" "NDP" "0000275837" "NDP" "0000275838" "NDP" "0000275839" "NDP" "0000275840" "NDP" "0000275841" "NDP" "0000275842" "NDP" "0000275843" "NDP" "0000275844" "NDP" "0000275845" "NDP" "0000275846" "NDP" "0000275847" "NDP" "0000275848" "NDP" "0000275850" "NDP" "0000275851" "NDP" "0000276050" "NDP" "0000276166" "NDP" "0000276600" "NDP" "0000276602" "NDP" "0000276604" "NDP" "0000276606" "NDP" "0000276608" "NDP" "0000276615" "NDP" "0000276632" "NDP" "0000276633" "NDP" "0000276634" "NDP" "0000276636" "NDP" "0000310385" "NDP" "0000310386" "NDP" "0000333510" "NDP" "0000333511" "NDP" "0000333512" "NDP" "0000333513" "NDP" "0000333514" "NDP" "0000334679" "NDP" "0000334680" "NDP" "0000335012" "NDP" "0000336437" "NDP" "0000336439" "NDP" "0000374683" "NDP" "0000374684" "NDP" "0000374685" "NDP" "0000374686" "NDP" "0000374687" "NDP" "0000374688" "NDP" "0000377728" "NDP" "0000377729" "NDP" "0000381973" "NDP" "0000381974" "NDP" "0000383840" "NDP" "0000383844" "NDP" "0000383845" "NDP" "0000383846" "NDP" "0000383847" "NDP" "0000384785" "NDP" "0000384786" "NDP" "0000384787" "NDP" "0000384788" "NDP" "0000384789" "NDP" "0000384790" "NDP" "0000384791" "NDP" "0000384792" "NDP" "0000384953" "NDP" "0000385502" "NDP" "0000385503" "NDP" "0000385535" "NDP" "0000385537" "NDP" "0000385578" "NDP" "0000385579" "NDP" "0000385585" "NDP" "0000385638" "NDP" "0000385731" "NDP" "0000388891" "NDP" "0000388905" "NDP" "0000389298" "NDP" "0000389300" "NDP" "0000389303" "NDP" "0000389493" "NDP" "0000389494" "NDP" "0000393038" "NDP" "0000393039" "NDP" "0000393040" "NDP" "0000395134" "NDP" "0000418167" "NDP" "0000418168" "NDP" "0000418169" "NDP" "0000418170" "NDP" "0000418171" "NDP" "0000418172" "NDP" "0000418173" "NDP" "0000418174" "NDP" "0000418175" "NDP" "0000418176" "NDP" "0000418177" "NDP" "0000418178" "NDP" "0000418179" "NDP" "0000418180" "NDP" "0000418181" "NDP" "0000418182" "NDP" "0000418183" "NDP" "0000418184" "NDP" "0000418185" "NDP" "0000418186" "NDP" "0000418187" "NDP" "0000418189" "NDP" "0000418190" "NDP" "0000418191" "NDP" "0000418192" "NDP" "0000418193" "NDP" "0000418194" "NDP" "0000418195" "NDP" "0000418196" "NDP" "0000418197" "NDP" "0000418198" "NDP" "0000418199" "NDP" "0000418200" "NDP" "0000418201" "NDP" "0000418202" "NDP" "0000418203" "NDP" "0000418204" "NDP" "0000418205" "NDP" "0000418206" "NDP" "0000418207" "NDP" "0000418226" "NDP" "0000418249" "NDP" "0000418250" "NDP" "0000418251" "NDP" "0000418252" "NDP" "0000418253" "NDP" "0000418254" "NDP" "0000418255" "NDP" "0000418256" "NDP" "0000418257" "NDP" "0000418258" "NDP" "0000418260" "NDP" "0000418268" "NDP" "0000418269" "NDP" "0000418270" "NDP" "0000460617" "NDP" "0000461025" "NDP" "0000461025" "RS1" ## 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 = 227 "{{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}}" "0000017175" "0" "75" "X" "43809265" "43809265" "subst" "0" "00015" "NDP_000038" "g.43809265A>G" "0/500 con" "{PMID:Romaniello et al. 2012:23220793}" "" "" "" "Germline" "yes" "" "" "" "" "g.43950019A>G" "" "likely pathogenic" "" "0000064765" "21" "70" "X" "43809154" "43809154" "subst" "0" "01239" "NDP_000035" "g.43809154G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.43949908G>A" "" "likely pathogenic" "" "0000064768" "1" "90" "X" "43817880" "43817881" "del" "0" "01251" "NDP_000001" "g.43817880_43817881del" "1/13 cases" "{PMID:Nikopoulos 2010:20340138}" "" "" "" "Unknown" "" "" "0" "" "" "g.43958634_43958635del" "" "pathogenic" "" "0000064769" "1" "90" "X" "43817757" "43817757" "del" "0" "01251" "NDP_000008" "g.43817757del" "1/26 cases" "{PMID:Schuback 1995:07627181}" "" "136delG" "" "Germline" "" "" "0" "" "" "g.43958511del" "" "pathogenic" "" "0000064770" "1" "90" "X" "43817722" "43817722" "subst" "0" "01251" "NDP_000009" "g.43817722G>C" "1/17 cases" "Berger 1992" "" "" "" "Unknown" "" "" "0" "" "" "g.43958476G>C" "" "pathogenic" "" "0000064771" "1" "90" "X" "43817866" "43817869" "dup" "0" "01251" "NDP_000010" "g.43817866_43817869dup" "1/17 cases" "Berger 1992" "" "" "" "Unknown" "" "" "0" "" "" "g.43958620_43958623dup" "" "pathogenic" "" "0000064772" "1" "90" "X" "43817852" "43817867" "del" "0" "01251" "NDP_000011" "g.43817852_43817867del" "1/13 cases" "{PMID:Nikopoulos 2010:20340138}" "" "" "" "Unknown" "" "" "0" "" "" "g.43958606_43958621del" "" "pathogenic" "" "0000064773" "1" "90" "X" "43817854" "43817854" "subst" "0" "01251" "NDP_000012" "g.43817854A>C" "" "Fuchs 1996" "" "" "" "Germline" "" "" "0" "" "" "g.43958608A>C" "" "pathogenic" "" "0000064774" "1" "90" "X" "43817845" "43817845" "subst" "0" "01251" "NDP_000013" "g.43817845A>G" "1/2 cases" "Yamada 2001" "" "" "" "Germline" "" "" "0" "" "" "g.43958599A>G" "" "pathogenic" "" "0000064775" "1" "90" "X" "43817842" "43817842" "dup" "0" "01251" "NDP_000014" "g.43817842dup" "1/3 cases" "Gal 1996" "" "50dupT" "" "Germline" "" "" "0" "" "" "g.43958596dup" "" "pathogenic" "" "0000064776" "1" "90" "X" "43817839" "43817839" "subst" "0" "01251" "NDP_000015" "g.43817839A>T" "1/65 cases" "Kondo 2007" "" "" "" "Unknown" "" "" "0" "" "" "g.43958593A>T" "" "pathogenic" "" "0000064777" "1" "90" "X" "43817827" "43817827" "del" "0" "01251" "NDP_000016" "g.43817827del" "1/26 cases" "{PMID:Schuback 1995:07627181}" "" "65delC" "" "Germline" "" "" "0" "" "" "g.43958581del" "" "pathogenic" "" "0000064778" "1" "90" "X" "43817806" "43817806" "subst" "0" "01251" "NDP_000017" "g.43817806G>C" "1/6 cases" "Meindl 1992" "" "" "" "Unknown" "" "" "0" "" "" "g.43958560G>C" "" "pathogenic" "" "0000064779" "1" "90" "X" "43817783" "43817783" "subst" "0" "01251" "NDP_000002" "g.43817783G>A" "" "Ott 2000" "" "" "" "Germline" "" "" "0" "" "" "g.43958537G>A" "" "pathogenic" "" "0000064780" "1" "90" "X" "43809242" "43809242" "del" "0" "01251" "NDP_000018" "g.43809242del" "1/26 cases" "{PMID:Schuback 1995:07627181}" "" "205delT" "" "Germline" "" "" "0" "" "" "g.43949996del" "" "pathogenic" "" "0000064781" "1" "90" "X" "43809229" "43809229" "subst" "0" "01251" "NDP_000019" "g.43809229G>T" "1/2 cases" "Walker 1997" "" "" "" "Germline" "" "" "0" "" "" "g.43949983G>T" "" "pathogenic" "" "0000064782" "1" "90" "X" "43809208" "43809212" "del" "0" "01251" "NDP_000020" "g.43809208_43809212del" "1/5 cases" "{PMID:Riveiro-Alvarez 2005:16163268}" "" "" "" "De novo" "" "" "0" "" "" "g.43949962_43949966del" "" "pathogenic" "" "0000064783" "1" "90" "X" "43809162" "43809162" "subst" "0" "01251" "NDP_000021" "g.43809162G>T" "2/5 cases" "Wu 2007" "" "" "" "Germline" "" "" "0" "" "" "g.43949916G>T" "" "pathogenic" "" "0000064784" "1" "90" "X" "43809157" "43809157" "del" "0" "01251" "NDP_000022" "g.43809157del" "1/17 cases" "Berger 1992" "" "291delG" "" "Unknown" "" "" "0" "" "" "g.43949911del" "" "pathogenic" "" "0000064785" "1" "90" "X" "43809122" "43809122" "subst" "0" "01251" "NDP_000023" "g.43809122G>A" "1/2 cases" "{PMID:Schuback 1995:07627181}" "" "" "" "Germline" "" "" "0" "" "" "g.43949876G>A" "" "pathogenic" "" "0000064786" "1" "90" "X" "43809122" "43809122" "subst" "0" "01251" "NDP_000023" "g.43809122G>A" "2/26 cases" "Mintz-Hittner 1996" "" "" "" "Germline" "" "" "0" "" "" "g.43949876G>A" "" "pathogenic" "" "0000064787" "1" "90" "X" "43809117" "43809117" "subst" "0" "01251" "NDP_000024" "g.43809117G>T" "2/17 cases" "Berger 1992" "" "" "" "Unknown" "" "" "0" "" "" "g.43949871G>T" "" "pathogenic" "" "0000064788" "1" "90" "X" "43809115" "43809115" "subst" "0" "01251" "NDP_000025" "g.43809115G>T" "1/13 cases" "{PMID:Nikopoulos 2010:20340138}" "" "" "" "Unknown" "" "" "0" "" "" "g.43949869G>T" "" "pathogenic" "" "0000064789" "1" "90" "X" "43809087" "43809087" "subst" "0" "01251" "NDP_000026" "g.43809087G>T" "1/5 cases" "{PMID:Riveiro-Alvarez 2005:16163268}" "" "" "" "Germline" "" "" "0" "" "" "g.43949841G>T" "" "pathogenic" "" "0000064790" "1" "90" "X" "43817780" "43817780" "subst" "5.59986E-6" "01251" "NDP_000003" "g.43817780G>A" "1/21 cases" "Royer 2003" "" "" "" "Unknown" "" "" "0" "" "" "g.43958534G>A" "" "pathogenic" "" "0000064791" "1" "90" "X" "43809069" "43809069" "subst" "0" "01251" "NDP_000027" "g.43809069A>T" "1/5 cases" "Fuchs 1996" "" "" "" "Unknown" "" "" "0" "" "" "g.43949823A>T" "" "pathogenic" "" "0000064792" "1" "90" "X" "43809069" "43809069" "subst" "0" "01251" "NDP_000027" "g.43809069A>T" "1/2 cases" "Kellner 1996" "" "" "" "Germline" "" "" "0" "" "" "g.43949823A>T" "" "pathogenic" "" "0000064793" "1" "90" "X" "43809063" "43809064" "delins" "0" "01251" "NDP_000028" "g.43809063_43809064delinsTT" "" "Wong 1993" "" "" "" "Germline" "" "" "0" "" "" "g.43949817_43949818delinsTT" "" "pathogenic" "" "0000064794" "1" "90" "X" "43809063" "43809063" "subst" "0" "01251" "NDP_000029" "g.43809063G>T" "1/26 cases" "{PMID:Schuback 1995:07627181}" "" "" "" "Germline" "" "" "0" "" "" "g.43949817G>T" "" "pathogenic" "" "0000064795" "1" "70" "X" "43817729" "43817729" "subst" "0" "01251" "NDP_000030" "g.43817729A>G" "1/46 cases" "{PMID:Nikopoulos 2010:20340138}" "" "" "" "Unknown" "" "" "0" "" "" "g.43958483A>G" "" "likely pathogenic" "" "0000064796" "1" "70" "X" "43809248" "43809248" "subst" "0" "01251" "NDP_000031" "g.43809248C>T" "1/46 cases" "{PMID:Nikopoulos 2010:20340138}" "" "" "" "Unknown" "" "" "0" "" "" "g.43950002C>T" "" "likely pathogenic" "" "0000064797" "1" "70" "X" "43809247" "43809247" "subst" "0" "01251" "NDP_000032" "g.43809247C>T" "1/46 cases" "{PMID:Nikopoulos 2010:20340138}" "" "" "" "Unknown" "" "" "0" "" "" "g.43950001C>T" "" "likely pathogenic" "" "0000064798" "1" "70" "X" "43809180" "43809180" "subst" "0" "01251" "NDP_000033" "g.43809180G>T" "1/46 cases" "{PMID:Nikopoulos 2010:20340138}" "" "" "" "Unknown" "" "" "0" "" "" "g.43949934G>T" "" "likely pathogenic" "" "0000064799" "1" "70" "X" "43809173" "43809173" "subst" "0" "01251" "NDP_000034" "g.43809173A>G" "1/46 cases" "{PMID:Nikopoulos 2010:20340138}" "" "" "" "Unknown" "" "" "0" "" "" "g.43949927A>G" "" "likely pathogenic" "" "0000064800" "1" "70" "X" "43809154" "43809154" "subst" "0" "01251" "NDP_000035" "g.43809154G>A" "1/46 cases" "{PMID:Nikopoulos 2010:20340138}" "" "" "" "Unknown" "" "" "0" "" "" "g.43949908G>A" "" "likely pathogenic" "" "0000064801" "1" "90" "X" "43817780" "43817780" "subst" "5.59986E-6" "01251" "NDP_000003" "g.43817780G>A" "2/5 cases" "{PMID:Riveiro-Alvarez 2005:16163268}" "" "" "" "Germline" "" "" "0" "" "" "g.43958534G>A" "" "pathogenic" "" "0000064802" "1" "70" "X" "43832548" "43832548" "subst" "0" "01251" "NDP_000036" "g.43832548A>C" "1/46 cases" "{PMID:Nikopoulos 2010:20340138}" "" "" "" "Unknown" "" "" "0" "" "" "g.43973302A>C" "" "likely pathogenic" "" "0000064803" "1" "70" "X" "43832545" "43832545" "subst" "0" "01251" "NDP_000037" "g.43832545C>T" "1/46 cases" "{PMID:Nikopoulos 2010:20340138}" "" "" "" "Germline" "" "" "0" "" "" "g.43973299C>T" "" "likely pathogenic" "" "0000064804" "1" "90" "X" "43817777" "43817777" "subst" "0" "01251" "NDP_000004" "g.43817777A>G" "" "Joos 1994" "" "" "" "Germline" "" "" "0" "" "" "g.43958531A>G" "" "pathogenic" "" "0000064805" "1" "90" "X" "43817777" "43817777" "subst" "0" "01251" "NDP_000004" "g.43817777A>G" "1/52 cases" "Wu 2007" "" "" "" "Germline" "" "" "0" "" "" "g.43958531A>G" "" "pathogenic" "" "0000064806" "1" "90" "X" "43817764" "43817764" "dup" "0" "01251" "NDP_000005" "g.43817764dup" "" "Caballero 1996" "" "128dupA" "" "Unknown" "" "" "0" "" "" "g.43958518dup" "" "pathogenic" "" "0000064807" "1" "90" "X" "43817763" "43817763" "del" "0" "01251" "NDP_000006" "g.43817763del" "1/13 cases" "{PMID:Nikopoulos 2010:20340138}" "" "" "" "Unknown" "" "" "0" "" "" "g.43958517del" "" "pathogenic" "" "0000064808" "1" "90" "X" "43817761" "43817761" "dup" "0" "01251" "NDP_000007" "g.43817761dup" "" "Hatsukawa 2002" "" "131dupA" "" "Germline" "" "" "0" "" "" "g.43958515dup" "" "pathogenic" "" "0000302951" "0" "50" "X" "43809226" "43809226" "subst" "0" "01943" "NDP_000039" "g.43809226C>A" "" "" "" "NDP(NM_000266.3):c.221G>T (p.R74L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43949980C>A" "" "VUS" "" "0000333826" "0" "50" "X" "43817801" "43817801" "subst" "0" "01804" "NDP_000041" "g.43817801T>C" "" "" "" "NDP(NM_000266.3):c.91A>G (p.(Ile31Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43958555T>C" "" "VUS" "" "0000338103" "0" "70" "X" "43832545" "43832545" "subst" "0" "02327" "NDP_000037" "g.43832545C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43973299C>T" "" "likely pathogenic" "" "0000342791" "0" "70" "X" "43817780" "43817780" "subst" "5.59986E-6" "02327" "NDP_000003" "g.43817780G>A" "" "" "" "NDP(NM_000266.4):c.112C>T (p.R38C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43958534G>A" "" "likely pathogenic" "" "0000342868" "0" "90" "X" "43817770" "43817770" "subst" "0" "02327" "NDP_000044" "g.43817770C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43958524C>G" "" "pathogenic" "" "0000344426" "0" "70" "X" "43817729" "43817729" "subst" "0" "02327" "NDP_000030" "g.43817729A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43958483A>G" "" "likely pathogenic" "" "0000348101" "0" "70" "X" "43809182" "43809182" "subst" "0" "02327" "NDP_000042" "g.43809182A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43949936A>G" "" "likely pathogenic" "" "0000576019" "0" "50" "X" "43809208" "43809208" "subst" "0" "01943" "NDP_000046" "g.43809208G>A" "" "" "" "NDP(NM_000266.3):c.239C>T (p.S80L), NDP(NM_000266.4):c.239C>T (p.S80L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43949962G>A" "" "VUS" "" "0000576020" "0" "10" "X" "43817823" "43817823" "subst" "0.00143914" "02330" "NDP_000047" "g.43817823G>C" "" "" "" "NDP(NM_000266.3):c.69C>G (p.(Asp23Glu)), NDP(NM_000266.4):c.69C>G (p.D23E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43958577G>C" "" "benign" "" "0000576021" "0" "30" "X" "43817823" "43817823" "subst" "0.00143914" "01804" "NDP_000047" "g.43817823G>C" "" "" "" "NDP(NM_000266.3):c.69C>G (p.(Asp23Glu)), NDP(NM_000266.4):c.69C>G (p.D23E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43958577G>C" "" "likely benign" "" "0000594955" "20" "70" "X" "43817968" "43817968" "subst" "0" "03383" "NDP_000048" "g.43817968T>C" "" "{PMID:Wu 2016:26908610}" "" "" "" "Germline" "" "" "0" "" "" "g.43958722T>C" "" "likely pathogenic" "" "0000594957" "20" "70" "X" "43817968" "43817968" "subst" "0" "03383" "NDP_000048" "g.43817968T>C" "" "{PMID:Wu 2016:26908610}" "" "" "" "Germline" "?" "" "0" "" "" "g.43958722T>C" "" "likely pathogenic" "" "0000597133" "20" "50" "X" "43817770" "43817770" "subst" "0" "03383" "NDP_000051" "g.43817770C>T" "" "{PMID:Yang 2012:22563645}" "" "" "" "Germline" "?" "" "0" "" "" "g.43958524C>T" "" "VUS" "" "0000597134" "0" "70" "X" "43817728" "43817728" "subst" "0" "03383" "NDP_000050" "g.43817728C>T" "0/96 controls" "{PMID:Yang 2012:22563645}" "" "" "" "Germline/De novo (untested)" "-" "" "0" "" "" "g.43958482C>T" "" "likely pathogenic" "" "0000597135" "20" "70" "X" "43809227" "43809227" "subst" "0" "03383" "NDP_000049" "g.43809227G>A" "1/44 probands" "{PMID:Yang 2012:22563645}" "" "" "" "Germline" "?" "" "0" "" "" "g.43949981G>A" "" "likely pathogenic" "" "0000597136" "0" "90" "X" "43949554" "43958592" "del" "0" "03383" "NDP_000052" "g.(?_43949554)_(43958592_?)del" "2/44 probands, 0/96 controls" "{PMID:Yang 2012:22563645}" "" "c.1-?_402+?del" "" "Germline/De novo (untested)" "-" "" "0" "" "" "" "" "likely pathogenic" "" "0000597137" "20" "90" "X" "43949554" "43958592" "del" "0" "03383" "NDP_000052" "g.(?_43949554)_(43958592_?)del" "0/96 controls" "{PMID:Yang 2012:22563645}" "" "c.1-?_402+?del" "location deletion based on primers used" "Germline" "?" "" "0" "" "" "" "" "likely pathogenic" "" "0000629687" "0" "50" "X" "43808911" "43808911" "subst" "0" "03383" "NDP_000056" "g.43808911T>C" "2/45" "{PMID:Dickinson 2006:16970763}" "" "" "Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline/De novo (untested)" "" "" "0" "" "" "g.43949665T>C" "" "VUS" "" "0000629688" "20" "50" "X" "43808732" "43808732" "subst" "0" "03383" "NDP_000054" "g.43808732G>C" "1/45" "{PMID:Dickinson 2006:16970763}" "" "" "Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.43949486G>C" "" "VUS" "" "0000629689" "21" "50" "X" "43817896" "43817909" "del" "0" "03383" "NDP_000075" "g.43817896_43817909del" "1/45" "{PMID:Dickinson 2006:16970763}" "" "" "mother heterozygous" "Germline" "" "" "0" "" "" "g.43958650_43958663del" "" "VUS" "" "0000629690" "1" "50" "X" "43817919" "43817932" "del" "0" "03383" "NDP_000076" "g.43817919_43817932del" "1/45" "{PMID:Dickinson 2006:16970763}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.43958673_43958686del" "" "VUS" "" "0000629937" "21" "90" "X" "43809224" "43809225" "ins" "0" "03383" "NDP_000067" "g.43809224_43809225insCG" "" "{PMID:Wawrocka 2016:30088388}" "" "" "" "Germline" "?" "" "0" "" "" "g.43949978_43949979insCG" "" "pathogenic" "" "0000629938" "21" "90" "X" "43809224" "43809225" "ins" "0" "03383" "NDP_000067" "g.43809224_43809225insCG" "" "{PMID:Wawrocka 2016:30088388}" "" "" "" "Germline" "yes" "" "0" "" "" "g.43949978_43949979insCG" "" "pathogenic" "" "0000629939" "20" "70" "X" "43809085" "43809085" "subst" "0" "03383" "NDP_000059" "g.43809085C>T" "" "{PMID:Wawrocka 2016:30088388}" "" "" "" "Germline" "" "" "0" "" "" "g.43949839C>T" "" "likely pathogenic" "" "0000629940" "21" "90" "X" "43817770" "43817770" "subst" "0" "03383" "NDP_000044" "g.43817770C>G" "" "{PMID:Pelcastre 2010:20491809}" "" "" "possible founder haplotype (see Family 2 of same paper)" "Germline" "yes" "" "0" "" "" "g.43958524C>G" "" "likely pathogenic" "" "0000629941" "21" "90" "X" "43817770" "43817770" "subst" "0" "03383" "NDP_000044" "g.43817770C>G" "" "{PMID:Pelcastre 2010:20491809}" "" "" "possible founder haplotype (See Individual #00274677)" "Germline" "yes" "" "0" "" "" "g.43958524C>G" "" "likely pathogenic" "" "0000629942" "21" "90" "X" "43809086" "43809086" "subst" "0" "03383" "NDP_000060" "g.43809086G>A" "" "{PMID:Pelcastre 2010:20491809}" "" "" "" "Germline" "yes" "" "0" "" "" "g.43949840G>A" "" "pathogenic" "" "0000629943" "21" "90" "X" "43809085" "43809085" "subst" "0" "03383" "NDP_000059" "g.43809085C>T" "" "{PMID:Pelcastre 2010:20491809}" "" "" "haplotype analysis - probable relation to Spanish family (Riveiro-Alvarez 2005)" "Germline" "yes" "" "0" "" "" "g.43949839C>T" "" "pathogenic" "" "0000629949" "21" "90" "X" "43817823" "43817823" "del" "0" "03383" "NDP_000074" "g.43817823del" "0.009" "{PMID:Musada 2016:27217716}" "" "69delC" "mother affected to lesser degree, 0/115 controls" "Germline" "yes" "" "0" "" "" "g.43958577del" "" "pathogenic" "" "0000629958" "21" "90" "X" "43817747" "43817750" "del" "0" "03383" "NDP_000072" "g.43817747_43817750del" "0.009" "{PMID:Musada 2016:27217716}" "" "" "0/115 controls" "Germline" "yes" "" "0" "" "" "g.43958501_43958504del" "" "likely pathogenic" "" "0000629959" "21" "90" "X" "43817744" "43817744" "subst" "0" "03383" "NDP_000071" "g.43817744G>C" "0.027" "{PMID:Musada 2016:27217716}" "" "" "phenotype less severe in mother, 0/115 controls" "Germline" "yes" "" "0" "" "" "g.43958498G>C" "" "pathogenic" "" "0000629960" "10" "90" "X" "43817744" "43817744" "subst" "0" "03383" "NDP_000071" "g.43817744G>C" "0.027" "{PMID:Musada 2016:27217716}" "" "" "heterozygous in proband, 0/115 controls" "Germline" "yes" "" "0" "" "" "g.43958498G>C" "" "pathogenic" "" "0000629961" "21" "90" "X" "43817744" "43817744" "subst" "0" "03383" "NDP_000071" "g.43817744G>C" "0.027" "{PMID:Musada 2016:27217716}" "" "" "0/115 controls" "Germline" "yes" "" "0" "" "" "g.43958498G>C" "" "pathogenic" "" "0000629962" "21" "90" "X" "43809109" "43809109" "subst" "0" "03383" "NDP_000063" "g.43809109C>T" "0.009" "{PMID:Musada 2016:27217716}" "" "" "0/115 controls" "Germline" "yes" "" "0" "" "" "g.43949863C>T" "" "pathogenic" "" "0000629963" "0" "90" "X" "43809071" "43809071" "subst" "0" "03383" "NDP_000058" "g.43809071A>G" "0.009" "{PMID:Musada 2016:27217716}" "" "" "de novo in patient" "De novo" "" "" "0" "" "" "g.43949825A>G" "" "pathogenic" "" "0000629964" "0" "90" "X" "43817880" "43817881" "del" "0" "03383" "NDP_000001" "g.43817880_43817881del" "0.009" "{PMID:Musada 2016:27217716}" "" "" "de novo, 0/115 controls" "De novo" "" "" "0" "" "" "g.43958634_43958635del" "" "likely pathogenic" "" "0000629966" "21" "90" "X" "43817722" "43817722" "subst" "0" "03383" "NDP_000009" "g.43817722G>C" "0.009" "{PMID:Musada 2016:27217716}" "" "" "" "Germline" "yes" "" "0" "" "" "g.43958476G>C" "" "pathogenic" "" "0000629967" "21" "90" "X" "43809085" "43809085" "subst" "0" "03383" "NDP_000059" "g.43809085C>T" "0.009" "{PMID:Musada 2016:27217716}" "" "" "" "Germline" "" "" "0" "" "" "g.43949839C>T" "" "pathogenic" "" "0000630166" "21" "70" "X" "43809137" "43809137" "subst" "0" "03383" "NDP_000064" "g.43809137T>G" "" "{PMID:Liu 2016:27720678}" "" "" "" "Germline" "yes" "" "0" "" "" "g.43949891T>G" "" "likely pathogenic" "" "0000630714" "0" "50" "X" "43808914" "43808914" "subst" "0" "03383" "NDP_000057" "g.43808914T>C" "1/27 patients" "{PMID:Drenser 2006:17050281}" "" "" "Variant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "g.43949668T>C" "" "VUS" "" "0000630725" "21" "90" "X" "43817730" "43817730" "subst" "0" "03383" "NDP_000070" "g.43817730C>G" "2/62 probands" "{PMID:Kondo 2007:17325173}" "" "" "0/180 control individuals" "Germline" "yes" "" "0" "" "" "g.43958484C>G" "" "pathogenic" "" "0000630727" "21" "90" "X" "43809103" "43809103" "subst" "0" "03383" "NDP_000062" "g.43809103C>A" "1/62 probands" "{PMID:Kondo 2007:17325173}" "" "" "0/180 control individuals" "Germline" "yes" "" "0" "" "" "g.43949857C>A" "" "pathogenic" "" "0000630729" "21" "90" "X" "43809157" "43809157" "subst" "0" "03383" "NDP_000065" "g.43809157C>G" "1/62 probands" "{PMID:Kondo 2007:17325173}" "" "" "0/180 control individuals" "Germline" "yes" "" "0" "" "" "g.43949911C>G" "" "pathogenic" "" "0000630731" "0" "90" "X" "43809273" "43809273" "subst" "0" "03383" "NDP_000068" "g.43809273C>T" "1/62 probands" "{PMID:Kondo 2007:17325173}" "" "" "0/180 control individuals" "Germline" "yes" "" "0" "" "" "g.43950027C>T" "" "pathogenic" "" "0000630733" "20" "90" "X" "43809180" "43809180" "del" "0" "03383" "NDP_000066" "g.43809180del" "" "{PMID:Kondo 2007:20227630}" "" "268delC" "" "Germline" "yes" "" "0" "" "" "g.43949934del" "" "likely pathogenic" "" "0000630742" "10" "90" "X" "43808789" "43808793" "del" "0" "03383" "NDP_000055" "g.43808789_43808793del" "1/45" "{PMID:Riveiro-Alvarez:16163268}" "" "" "de novo in patient\r\nVariant Error [EMISMATCH/ERANGE]: This transcript variant has an error. Please fix this entry and then remove this message." "De novo" "?" "" "0" "" "" "g.43949543_43949547del" "" "pathogenic" "" "0000630757" "21" "90" "X" "43817767" "43817767" "subst" "5.60105E-6" "03383" "NDP_000073" "g.43817767T>C" "4/41" "{PMID:Shastry 1997:9143917}" "" "" "0/36 control individuals" "Germline" "yes" "" "0" "" "" "g.43958521T>C" "" "pathogenic" "" "0000630758" "21" "50" "X" "43817718" "43817718" "subst" "0" "03383" "NDP_000069" "g.43817718C>A" "1/41" "{PMID:Shastry 1997:9143917}" "" "" "" "De novo" "" "" "0" "" "" "g.43958472C>A" "" "VUS" "" "0000630759" "21" "50" "X" "43809088" "43809088" "subst" "0" "03383" "NDP_000061" "g.43809088T>C" "1/41" "{PMID:Shastry 1997:9143917}" "" "" "0/36 control individuals" "De novo" "" "" "0" "" "" "g.43949842T>C" "" "VUS" "" "0000630761" "21" "70" "X" "43817770" "43817770" "subst" "0" "03383" "NDP_000051" "g.43817770C>T" "1/41" "{PMID:Shastry 1997:9143917}" "" "" "0/35 control individuals" "De novo" "" "" "0" "" "" "g.43958524C>T" "" "likely pathogenic" "" "0000644079" "0" "90" "X" "43817734" "43817734" "subst" "0" "03561" "NDP_000077" "g.43817734T>C" "0/100 individual controls" "{PMID:Bao 2019:31821093}" "" "" "" "Germline" "yes" "" "0" "" "" "g.43958488T>C" "" "VUS" "" "0000644080" "21" "90" "X" "43817734" "43817734" "subst" "0" "03561" "NDP_000077" "g.43817734T>C" "0/100 individual controls" "{PMID:Bao 2019:31821093}" "" "" "" "Germline" "yes" "" "0" "" "" "g.43958488T>C" "" "VUS" "" "0000644082" "21" "90" "X" "43817734" "43817734" "subst" "0" "03561" "NDP_000077" "g.43817734T>C" "0/100 individual controls" "{PMID:Bao 2019:31821093}" "" "" "" "Germline" "yes" "" "0" "" "" "g.43958488T>C" "" "VUS" "" "0000652919" "1" "30" "X" "43808330" "43808330" "subst" "0" "03575" "NDP_000078" "g.43808330A>G" "20/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "20 heterozygous; {DB:CLININkgp22831584}" "Germline" "" "" "0" "" "" "g.43949084A>G" "" "likely benign" "" "0000670121" "0" "30" "X" "43808330" "43808330" "subst" "0" "03575" "NDP_000078" "g.43808330A>G" "18/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "18 homozygous; {DB:CLININkgp22831584}" "Germline" "" "" "0" "" "" "g.43949084A>G" "" "likely benign" "" "0000682438" "0" "30" "X" "43817760" "43817760" "subst" "0" "02325" "NDP_000040" "g.43817760A>G" "" "" "" "NDP(NM_000266.4):c.132T>C (p.Y44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000685296" "0" "90" "X" "0" "0" "" "0" "00004" "USP9X_000005" "g.?" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "Deletion of NDP,MAOA,MAOB" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685297" "0" "70" "X" "43809178" "43809178" "subst" "2.42424E-5" "00004" "NDP_000079" "g.43809178C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000728908" "0" "70" "X" "43809086" "43809086" "subst" "0" "02329" "NDP_000060" "g.43809086G>A" "" "" "" "NDP(NM_000266.4):c.361C>T (p.R121W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000728909" "0" "70" "X" "43809179" "43809179" "subst" "0" "02327" "NDP_000080" "g.43809179G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000728910" "0" "70" "X" "43817780" "43817780" "subst" "5.59986E-6" "02329" "NDP_000003" "g.43817780G>A" "" "" "" "NDP(NM_000266.4):c.112C>T (p.R38C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000731183" "1" "90" "X" "43809251" "43809251" "subst" "0" "00000" "NDP_000084" "g.43809251C>T" "" "{PMID:Tang 2017:29181528}" "" "" "" "Germline" "" "" "0" "" "" "g.43950005C>T" "" "pathogenic" "" "0000731184" "1" "90" "X" "43809244" "43809244" "subst" "0" "00000" "NDP_000083" "g.43809244T>G" "" "{PMID:Tang 2017:29181528}" "" "" "" "Germline" "" "" "0" "" "" "g.43949998T>G" "" "pathogenic" "" "0000731185" "1" "90" "X" "43809166" "43809166" "subst" "0" "00000" "NDP_000082" "g.43809166T>A" "" "{PMID:Tang 2017:29181528}" "" "" "" "Germline" "" "" "0" "" "" "g.43949920T>A" "" "pathogenic" "" "0000731186" "1" "90" "X" "43809085" "43809085" "subst" "0" "00000" "NDP_000059" "g.43809085C>T" "" "{PMID:Tang 2017:29181528}" "" "" "" "Germline" "" "" "0" "" "" "g.43949839C>T" "" "pathogenic" "" "0000731187" "1" "90" "X" "43809113" "43809113" "del" "0" "00000" "NDP_000081" "g.43809113del" "" "{PMID:Tang 2017:29181528}" "" "334delG" "" "Germline" "" "" "0" "" "" "g.43949867del" "" "pathogenic" "" "0000732659" "20" "90" "X" "43809085" "43809085" "subst" "0" "00000" "NDP_000059" "g.43809085C>T" "" "{PMID:Iarossi 2017:28758032}" "" "" "" "Germline" "" "" "0" "" "" "g.43949839C>T" "" "pathogenic" "" "0000732660" "21" "70" "X" "43809134" "43809134" "subst" "0" "00000" "NDP_000086" "g.43809134C>G" "" "{PMID:Iarossi 2017:28758032}" "" "Ala105Phe" "" "Germline" "" "" "0" "" "" "g.43949888C>G" "" "likely pathogenic" "" "0000733019" "0" "70" "X" "43809112" "43809112" "subst" "0" "00000" "NDP_000085" "g.43809112C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.43949866C>T" "" "likely pathogenic" "" "0000735812" "0" "70" "X" "43809242" "43809242" "subst" "0" "00000" "NDP_000088" "g.43809242A>C" "" "{PMID:Keser 2017:28192794}" "" "T205G" "" "Germline" "yes" "" "0" "" "" "g.43949996A>C" "" "likely pathogenic" "" "0000735814" "0" "70" "X" "43808870" "43809113" "del" "0" "00000" "NDP_000087" "g.43808870_43809113del" "" "{PMID:Keser 2017:28192794}" "" "336_402IVS4del" "" "Germline" "yes" "" "0" "" "" "g.43949624_43949867del" "" "likely pathogenic" "" "0000785496" "0" "90" "X" "43817780" "43817780" "subst" "5.59986E-6" "00000" "NDP_000003" "g.43817780G>A" "" "{PMID:Salvo 2015:25711638}" "" "" "" "Germline" "" "" "0" "" "" "g.43958534G>A" "" "pathogenic" "" "0000785497" "0" "90" "X" "43809133" "43809133" "subst" "0" "00000" "NDP_000090" "g.43809133G>T" "" "{PMID:Salvo 2015:25711638}" "" "" "" "Germline" "" "" "0" "" "" "g.43949887G>T" "" "pathogenic" "" "0000785498" "0" "90" "X" "43809085" "43809085" "subst" "0" "00000" "NDP_000059" "g.43809085C>T" "" "{PMID:Salvo 2015:25711638}" "" "" "" "Germline" "" "" "0" "" "" "g.43949839C>T" "" "pathogenic" "" "0000785499" "0" "90" "X" "43809251" "43809251" "subst" "0" "00000" "NDP_000091" "g.43809251C>A" "" "{PMID:Salvo 2015:25711638}" "" "" "" "Germline" "yes" "" "0" "" "" "g.43950005C>A" "" "pathogenic" "" "0000785500" "0" "90" "X" "43809251" "43809251" "subst" "0" "00000" "NDP_000091" "g.43809251C>A" "" "{PMID:Salvo 2015:25711638}" "" "" "" "Germline" "yes" "" "0" "" "" "g.43950005C>A" "" "pathogenic" "" "0000785501" "0" "90" "X" "43809054" "43809054" "subst" "0" "00000" "NDP_000089" "g.43809054G>T" "" "{PMID:Salvo 2015:25711638}" "" "" "" "Germline" "yes" "" "0" "" "" "g.43949808G>T" "" "pathogenic" "" "0000788420" "0" "50" "X" "43817834" "43817834" "subst" "0.000123204" "00000" "NDP_000092" "g.43817834C>T" "" "{PMID:Katagiri 2014:25268133}" "" "G58A" "" "Germline" "" "rs200594881" "0" "" "" "g.43958588C>T" "" "VUS" "" "0000790153" "0" "70" "X" "43809085" "43809085" "subst" "0" "00000" "NDP_000059" "g.43809085C>T" "" "{PMID:Boonstra 2009:1932484}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790154" "0" "70" "X" "43817730" "43817730" "subst" "0" "00000" "NDP_000070" "g.43817730C>G" "" "{PMID:Boonstra 2009:1932484}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000795591" "21" "70" "X" "43809266" "43809266" "subst" "0" "00000" "NDP_000093" "g.43809266G>T" "" "{PMID:Surl 2020:32165824}" "" "c.181C>A, p.L61I" "" "Germline" "yes" "" "0" "" "" "g.43950020G>T" "" "likely pathogenic" "ACMG" "0000795592" "0" "90" "X" "43817783" "43817783" "subst" "0" "00000" "NDP_000002" "g.43817783G>A" "" "{PMID:Surl 2020:32165824}" "" "1966del c.109C>T, p.R37X" "" "Germline" "yes" "" "0" "" "" "g.43958537G>A" "" "pathogenic" "ACMG" "0000798120" "21" "70" "X" "43809071" "43809071" "subst" "0" "00000" "NDP_000058" "g.43809071A>G" "" "{PMID:Liu 2019:30474316}" "" "c.376T>C, C126R" "" "Germline" "yes" "" "0" "" "" "g.43949825A>G" "" "likely pathogenic" "" "0000798124" "21" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Liu 2019:30474316}" "" "exon 2 and 3 deletion" "" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000798125" "0" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Liu 2019:30474316}" "" "exon 2 and 3 deletion" "" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000798126" "0" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Liu 2019:30474316}" "" "exon 2 and 3 deletion" "" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000798127" "21" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Liu 2019:30474316}" "" "exon 2 and 3 deletion" "" "Germline" "yes" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000810394" "0" "90" "X" "43809208" "43809212" "del" "0" "02327" "NDP_000020" "g.43809208_43809212del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000811577" "0" "70" "X" "43809166" "43809166" "subst" "0" "00000" "NDP_000082" "g.43809166T>A" "" "{PMID:Wang 2019:31299183}" "" "NDP 281A?>?T, His94Leu" "" "Germline" "?" "" "0" "" "" "g.43949920T>A" "" "likely pathogenic" "" "0000811578" "0" "70" "X" "43809056" "43809056" "subst" "0" "00000" "NDP_000094" "g.43809056A>C" "" "{PMID:Wang 2019:31299183}" "" "NDP 391T?>?G, Cys131Gly" "" "Germline" "?" "" "0" "" "" "g.43949810A>C" "" "likely pathogenic" "" "0000811579" "0" "70" "X" "43809056" "43809056" "subst" "0" "00000" "NDP_000094" "g.43809056A>C" "" "{PMID:Wang 2019:31299183}" "" "NDP 391T?>?G, Cys131Gly" "" "Germline" "?" "" "0" "" "" "g.43949810A>C" "" "likely pathogenic" "" "0000811580" "0" "70" "X" "43809251" "43809251" "subst" "0" "00000" "NDP_000084" "g.43809251C>T" "" "{PMID:Wang 2019:31299183}" "" "NDP 196G?>?A, E66K" "" "Germline" "?" "" "0" "" "" "g.43950005C>T" "" "likely pathogenic" "" "0000811581" "0" "70" "X" "43809109" "43809109" "subst" "0" "00000" "NDP_000063" "g.43809109C>T" "" "{PMID:Wang 2019:31299183}" "" "NDP 338G?>?A, Gly113Asp" "" "Germline" "?" "" "0" "" "" "g.43949863C>T" "" "likely pathogenic" "" "0000811582" "0" "70" "X" "43809266" "43809266" "subst" "0" "00000" "NDP_000098" "g.43809266G>C" "" "{PMID:Wang 2019:31299183}" "" "NDP 181C?>?G, Leu61Val" "" "Germline" "?" "" "0" "" "" "g.43950020G>C" "" "likely pathogenic" "" "0000811583" "0" "70" "X" "43809085" "43809085" "subst" "0" "00000" "NDP_000059" "g.43809085C>T" "" "{PMID:Wang 2019:31299183}" "" "NDP 362G?>?A, Arg121Gln" "" "Germline" "?" "" "0" "" "" "g.43949839C>T" "" "likely pathogenic" "" "0000811584" "0" "70" "X" "43809113" "43809113" "del" "0" "00000" "NDP_000081" "g.43809113del" "" "{PMID:Wang 2019:31299183}" "" "NDP 334delG, Gly113Alafs" "" "Germline" "?" "" "0" "" "" "g.43949867del" "" "likely pathogenic" "" "0000811791" "0" "70" "X" "43809189" "43809189" "subst" "0" "00000" "NDP_000097" "g.43809189C>A" "" "{PMID:Tian 2019:31169861}" "" "c.258G>T;p.K86Na" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.43949943C>A" "" "likely pathogenic" "" "0000812571" "21" "70" "X" "43809133" "43809133" "subst" "0" "00000" "NDP_000090" "g.43809133G>T" "" "{PMID:Wang 2019:31106028}" "" "c.314G>T, p.(Ala105Glu)" "error in annotation: c.314G>T instead of C>A, hemizygous" "Germline" "yes" "" "0" "" "" "g.43949887G>T" "" "likely pathogenic" "" "0000812572" "21" "70" "X" "43809056" "43809056" "subst" "0" "00000" "NDP_000094" "g.43809056A>C" "" "{PMID:Wang 2019:31106028}" "" "c.391A>C, p.(Cys131Gly)" "error in annotation: c.391T>G instead of A>C, hemizygous" "Germline" "yes" "" "0" "" "" "g.43949810A>C" "" "likely pathogenic" "" "0000812613" "21" "70" "X" "43817770" "43817770" "subst" "0" "00000" "NDP_000051" "g.43817770C>T" "" "{PMID:Wang 2019:31106028}" "" "c.122C>T, p.(Arg41Lys)" "error in annotation: c.122C>T instead of G>A, hemizygous" "Germline" "yes" "" "0" "" "" "g.43958524C>T" "" "likely pathogenic" "" "0000812615" "0" "70" "X" "43809266" "43809266" "subst" "0" "00000" "NDP_000099" "g.43809266G>A" "" "{PMID:Wang 2019:31106028}" "" "c.181G>A, p.(Leu61Phe)" "error in annotation: c.181G>A instead of C>T, hemizygous" "De novo" "yes" "" "0" "" "" "g.43950020G>A" "" "likely pathogenic" "" "0000812667" "21" "70" "X" "43817718" "43817718" "subst" "0" "00000" "NDP_000069" "g.43817718C>A" "" "{PMID:Wang 2019:31106028}" "" "c.174C>A, p.(Lys58Asn)" "error in annotation: c.174C>A instead of G>T, hemizygous" "Germline" "yes" "" "0" "" "" "g.43958472C>A" "" "likely pathogenic" "" "0000812668" "0" "70" "X" "43809168" "43809168" "subst" "0" "00000" "NDP_000096" "g.43809168A>T" "" "{PMID:Wang 2019:31106028}" "" "c.279A>T, p.(Cys93*)" "error in annotation: A>T instead of T>A, hemizygous" "Germline" "?" "" "0" "" "" "g.43949922A>T" "" "likely pathogenic" "" "0000812674" "21" "70" "X" "43809109" "43809109" "subst" "0" "00000" "NDP_000063" "g.43809109C>T" "" "{PMID:Wang 2019:31106028}" "" "c.338C>T, p.(Gly113Asp)" "error in annotation: c.338C>T instead of G>A, hemizygous" "Germline" "yes" "" "0" "" "" "g.43949863C>T" "" "likely pathogenic" "" "0000812735" "21" "90" "X" "43832549" "43832549" "subst" "0" "00000" "NDP_000100" "g.43832549C>T" "" "{PMID:Wang 2019:31106028}" "" "c.-208+1C>T, p.?" "error in annotation: c.-208+1C>T instead of G>A, hemizygous" "Germline" "yes" "" "0" "" "" "g.43973303C>T" "" "pathogenic" "" "0000812846" "21" "70" "X" "43809109" "43809109" "subst" "0" "00000" "NDP_000095" "g.43809109C>G" "" "{PMID:Wang 2019:31106028}" "" "c.338C>G, p.(Gly113Ala)" "error in annotation: c.338C>G instead of G>C, hemizygous" "Germline" "yes" "" "0" "" "" "g.43949863C>G" "" "likely pathogenic" "" "0000817685" "20" "70" "X" "0" "0" "" "0" "00000" "USP9X_000005" "g.?" "" "{PMID:Zanolli 2020:32141364}" "" "NDP Deletion of exon 2" "no protein change given, probably hemizygous (gender unknown)" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000817703" "20" "70" "X" "43817730" "43817730" "subst" "0" "00000" "NDP_000070" "g.43817730C>G" "" "{PMID:Zanolli 2020:32141364}" "" "NDP c.162G>C" "no protein change given, probably hemizygous (gender unknown)" "Unknown" "?" "" "0" "" "" "g.43958484C>G" "" "likely pathogenic" "" "0000818242" "20" "70" "X" "43809252" "43809252" "subst" "0" "00000" "NDP_000101" "g.43809252G>C" "" "{PMID:Rao 2017:28494495}" "" "c.195C>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000818243" "20" "70" "X" "43809252" "43809252" "subst" "0" "00000" "NDP_000101" "g.43809252G>C" "" "{PMID:Rao 2017:28494495}" "" "c.195C>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000818245" "20" "90" "X" "43817839" "43817840" "ins" "0" "00000" "NDP_000104" "g.43817839_43817840insN[32]" "" "{PMID:Rao 2017:28494495}" "" "c.52_53ins32" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818248" "0" "90" "X" "43817765" "43817765" "subst" "0" "00000" "NDP_000103" "g.43817765G>T" "" "{PMID:Rao 2017:28494495}" "" "c.127C>A" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000818579" "21" "50" "X" "43809259" "43809259" "subst" "0" "00000" "NDP_000102" "g.43809259G>A" "" "{PMID:Wang 2021:32238352}" "" "c.188C>T, p.A63V" "retrospective study, duplicates plausible" "Germline" "yes" "" "0" "" "" "g.43950013G>A" "" "VUS" "ACMG" "0000818580" "0" "50" "X" "43809259" "43809259" "subst" "0" "00000" "NDP_000102" "g.43809259G>A" "" "{PMID:Wang 2021:32238352}" "" "c.188C>T, p.A63V" "retrospective study, duplicates plausible" "Germline" "yes" "" "0" "" "" "g.43950013G>A" "" "VUS" "ACMG" "0000823624" "21" "90" "X" "43809266" "43809266" "subst" "0" "00000" "NDP_000093" "g.43809266G>T" "" "{PMID:Li 2020:32884843}" "" "NDP c.181C>A, p.L61I" "hemizygous" "Germline" "yes" "" "0" "" "" "g.43950020G>T" "" "pathogenic" "ACMG" "0000823625" "21" "90" "X" "43817758" "43817758" "subst" "0" "00000" "NDP_000105" "g.43817758A>C" "" "{PMID:Li 2020:32884843}" "" "NDP c.134T>G, p.V45G" "hemizygous" "Germline" "yes" "" "0" "" "" "g.43958512A>C" "" "pathogenic" "ACMG" "0000823626" "21" "90" "X" "43817758" "43817758" "subst" "0" "00000" "NDP_000106" "g.43817758A>T" "" "{PMID:Li 2020:32884843}" "" "NDP c.134T>A, p.V45E" "hemizygous" "Germline" "yes" "" "0" "" "" "g.43958512A>T" "" "pathogenic" "ACMG" "0000826348" "20" "70" "X" "43808021" "43809273" "dup" "0" "00000" "NDP_000107" "g.43808021_43809273dup" "" "{PMID:Liu-2020:33090715}" "" "E3dup" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (maternal)" "" "0000856617" "0" "50" "X" "43809208" "43809208" "subst" "0" "02330" "NDP_000046" "g.43809208G>A" "" "" "" "NDP(NM_000266.3):c.239C>T (p.S80L), NDP(NM_000266.4):c.239C>T (p.S80L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867374" "0" "30" "X" "43817727" "43817727" "subst" "0.000252331" "01943" "NDP_000108" "g.43817727A>G" "" "" "" "NDP(NM_000266.3):c.165T>C (p.C55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000877922" "21" "70" "X" "43809112" "43809112" "subst" "0" "00000" "NDP_000085" "g.43809112C>T" "" "{PMID:Allen 2006:15776010}" "" "NDP 743G>A, Gly112Glu" "obsolete nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949866C>T" "" "likely pathogenic" "" "0000877923" "21" "70" "X" "43809112" "43809112" "subst" "0" "00000" "NDP_000085" "g.43809112C>T" "" "{PMID:Allen 2006:15776010}" "" "NDP 743G>A, Gly112Glu" "obsolete nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949866C>T" "" "likely pathogenic" "" "0000877924" "21" "70" "X" "43809112" "43809112" "subst" "0" "00000" "NDP_000085" "g.43809112C>T" "" "{PMID:Allen 2006:15776010}" "" "NDP 743G>A, Gly112Glu" "obsolete nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949866C>T" "" "likely pathogenic" "" "0000877925" "21" "70" "X" "43809112" "43809112" "subst" "0" "00000" "NDP_000085" "g.43809112C>T" "" "{PMID:Allen 2006:15776010}" "" "NDP 743G>A, Gly112Glu" "obsolete nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949866C>T" "" "likely pathogenic" "" "0000877926" "21" "70" "X" "43809112" "43809112" "subst" "0" "00000" "NDP_000085" "g.43809112C>T" "" "{PMID:Allen 2006:15776010}" "" "NDP 743G>A, Gly112Glu" "obsolete nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949866C>T" "" "likely pathogenic" "" "0000877927" "21" "70" "X" "43809112" "43809112" "subst" "0" "00000" "NDP_000085" "g.43809112C>T" "" "{PMID:Allen 2006:15776010}" "" "NDP 743G>A, Gly112Glu" "obsolete nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949866C>T" "" "likely pathogenic" "" "0000877928" "21" "70" "X" "43809112" "43809112" "subst" "0" "00000" "NDP_000085" "g.43809112C>T" "" "{PMID:Allen 2006:15776010}" "" "NDP 743G>A, Gly112Glu" "obsolete nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949866C>T" "" "likely pathogenic" "" "0000877929" "21" "70" "X" "43809112" "43809112" "subst" "0" "00000" "NDP_000085" "g.43809112C>T" "" "{PMID:Allen 2006:15776010}" "" "NDP 743G>A, Gly112Glu" "obsolete nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949866C>T" "" "likely pathogenic" "" "0000877930" "21" "70" "X" "43809227" "43809227" "subst" "0" "00000" "NDP_000049" "g.43809227G>A" "" "{PMID:Allen 2006:15776010}" "" "NDP Arg74Cys" "no nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949981G>A" "" "likely pathogenic" "" "0000877931" "21" "70" "X" "43809227" "43809227" "subst" "0" "00000" "NDP_000049" "g.43809227G>A" "" "{PMID:Allen 2006:15776010}" "" "NDP Arg74Cys" "no nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949981G>A" "" "likely pathogenic" "" "0000877932" "21" "70" "X" "43809227" "43809227" "subst" "0" "00000" "NDP_000049" "g.43809227G>A" "" "{PMID:Allen 2006:15776010}" "" "NDP Arg74Cys" "no nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949981G>A" "" "likely pathogenic" "" "0000877933" "21" "70" "X" "43809086" "43809086" "subst" "0" "00000" "NDP_000060" "g.43809086G>A" "" "{PMID:Shastry 1995:7558002}" "" "NDP C->T transition at codon 121, R121W" "no nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949840G>A" "" "likely pathogenic" "" "0000877934" "21" "70" "X" "43809086" "43809086" "subst" "0" "00000" "NDP_000060" "g.43809086G>A" "" "{PMID:Shastry 1995:7558002}" "" "NDP C->T transition at codon 121, R121W" "no nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949840G>A" "" "likely pathogenic" "" "0000877935" "21" "70" "X" "43809086" "43809086" "subst" "0" "00000" "NDP_000060" "g.43809086G>A" "" "{PMID:Shastry 1995:7558002}" "" "NDP C->T transition at codon 121, R121W" "no nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949840G>A" "" "likely pathogenic" "" "0000877936" "21" "70" "X" "43809077" "43809077" "subst" "0" "00000" "NDP_000109" "g.43809077G>A" "" "{PMID:Chen 1993:8252044}" "" "NDP CTC->TTC, (Leu124Phe)" "no nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949831G>A" "" "likely pathogenic" "" "0000877937" "21" "70" "X" "43809077" "43809077" "subst" "0" "00000" "NDP_000109" "g.43809077G>A" "" "{PMID:Chen 1993:8252044}" "" "NDP CTC->TTC, (Leu124Phe)" "no nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949831G>A" "" "likely pathogenic" "" "0000877938" "21" "70" "X" "43809077" "43809077" "subst" "0" "00000" "NDP_000109" "g.43809077G>A" "" "{PMID:Chen 1993:8252044}" "" "NDP CTC->TTC, (Leu124Phe)" "no nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949831G>A" "" "likely pathogenic" "" "0000877939" "21" "70" "X" "43809077" "43809077" "subst" "0" "00000" "NDP_000109" "g.43809077G>A" "" "{PMID:Chen 1993:8252044}" "" "NDP CTC->TTC, (Leu124Phe)" "no nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949831G>A" "" "likely pathogenic" "" "0000877940" "21" "70" "X" "43809077" "43809077" "subst" "0" "00000" "NDP_000109" "g.43809077G>A" "" "{PMID:Chen 1993:8252044}" "" "NDP CTC->TTC, (Leu124Phe)" "no nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949831G>A" "" "likely pathogenic" "" "0000877941" "21" "70" "X" "43809077" "43809077" "subst" "0" "00000" "NDP_000109" "g.43809077G>A" "" "{PMID:Chen 1993:8252044}" "" "NDP CTC->TTC, (Leu124Phe)" "no nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949831G>A" "" "likely pathogenic" "" "0000877942" "21" "70" "X" "43809086" "43809086" "subst" "0" "00000" "NDP_000060" "g.43809086G>A" "" "{Fuchs 1995:8535448}" "" "NDP C->T transition at codon 121, R121W" "no nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949840G>A" "" "likely pathogenic" "" "0000877945" "21" "70" "X" "43809119" "43809119" "subst" "0" "00000" "NDP_000111" "g.43809119A>C" "0/30 unrelated normal controls" "{PMID:Torrente 1997:9382152}" "" "NDP T to G transversion at position 736, C110G" "obsolete nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949873A>C" "" "likely pathogenic" "" "0000877946" "21" "70" "X" "43809119" "43809119" "subst" "0" "00000" "NDP_000111" "g.43809119A>C" "0/30 unrelated normal controls" "{PMID:Torrente 1997:9382152}" "" "NDP T to G transversion at position 736, C110G" "obsolete nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949873A>C" "" "likely pathogenic" "" "0000877947" "21" "70" "X" "43809119" "43809119" "subst" "0" "00000" "NDP_000111" "g.43809119A>C" "0/30 unrelated normal controls" "{PMID:Torrente 1997:9382152}" "" "NDP T to G transversion at position 736, C110G" "obsolete nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949873A>C" "" "likely pathogenic" "" "0000877948" "21" "70" "X" "43809119" "43809119" "subst" "0" "00000" "NDP_000111" "g.43809119A>C" "0/30 unrelated normal controls" "{PMID:Torrente 1997:9382152}" "" "NDP T to G transversion at position 736, C110G" "obsolete nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949873A>C" "" "likely pathogenic" "" "0000877949" "21" "70" "X" "43809119" "43809119" "subst" "0" "00000" "NDP_000111" "g.43809119A>C" "0/30 unrelated normal controls" "{PMID:Torrente 1997:9382152}" "" "NDP T to G transversion at position 736, C110G" "obsolete nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949873A>C" "" "likely pathogenic" "" "0000877950" "21" "70" "X" "43809134" "43809134" "subst" "0" "00000" "NDP_000112" "g.43809134C>T" "0/35 unrelated normal controls" "{PMID:Torrente 1997:9382152}" "" "NDP G to A transition at position 721, A105T" "obsolete nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949888C>T" "" "likely pathogenic" "" "0000877951" "21" "70" "X" "43809134" "43809134" "subst" "0" "00000" "NDP_000112" "g.43809134C>T" "0/35 unrelated normal controls" "{PMID:Torrente 1997:9382152}" "" "NDP G to A transition at position 721, A105T" "obsolete nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949888C>T" "" "likely pathogenic" "" "0000877952" "21" "70" "X" "43809134" "43809134" "subst" "0" "00000" "NDP_000112" "g.43809134C>T" "0/35 unrelated normal controls" "{PMID:Torrente 1997:9382152}" "" "NDP G to A transition at position 721, A105T" "obsolete nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949888C>T" "" "likely pathogenic" "" "0000877953" "21" "70" "X" "43809134" "43809134" "subst" "0" "00000" "NDP_000112" "g.43809134C>T" "0/35 unrelated normal controls" "{PMID:Torrente 1997:9382152}" "" "NDP G to A transition at position 721, A105T" "obsolete nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949888C>T" "" "likely pathogenic" "" "0000877954" "21" "70" "X" "43809134" "43809134" "subst" "0" "00000" "NDP_000112" "g.43809134C>T" "0/35 unrelated normal controls" "{PMID:Torrente 1997:9382152}" "" "NDP G to A transition at position 721, A105T" "obsolete nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949888C>T" "" "likely pathogenic" "" "0000877955" "21" "70" "X" "43809134" "43809134" "subst" "0" "00000" "NDP_000112" "g.43809134C>T" "0/35 unrelated normal controls" "{PMID:Torrente 1997:9382152}" "" "NDP G to A transition at position 721, A105T" "obsolete nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949888C>T" "" "likely pathogenic" "" "0000877962" "21" "70" "X" "43809094" "43809094" "subst" "0" "00000" "NDP_000110" "g.43809094G>T" "0/116 unrelated normal controls" "{PMID:Shastry 1999:10544980}" "" "NDP A118D" "no nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949848G>T" "" "likely pathogenic" "" "0000877963" "20" "70" "X" "43809094" "43809094" "subst" "0" "00000" "NDP_000110" "g.43809094G>T" "0/116 unrelated normal controls" "{PMID:Shastry 1999:10544980}" "" "NDP A118D" "no nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949848G>T" "" "likely pathogenic" "" "0000877964" "20" "70" "X" "43809094" "43809094" "subst" "0" "00000" "NDP_000110" "g.43809094G>T" "0/116 unrelated normal controls" "{PMID:Shastry 1999:10544980}" "" "NDP A118D" "no nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949848G>T" "" "likely pathogenic" "" "0000877965" "20" "70" "X" "43809094" "43809094" "subst" "0" "00000" "NDP_000110" "g.43809094G>T" "0/116 unrelated normal controls" "{PMID:Shastry 1999:10544980}" "" "NDP A118D" "no nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949848G>T" "" "likely pathogenic" "" "0000877966" "20" "70" "X" "43809094" "43809094" "subst" "0" "00000" "NDP_000110" "g.43809094G>T" "0/116 unrelated normal controls" "{PMID:Shastry 1999:10544980}" "" "NDP A118D" "no nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949848G>T" "" "likely pathogenic" "" "0000877967" "20" "70" "X" "43809094" "43809094" "subst" "0" "00000" "NDP_000110" "g.43809094G>T" "0/116 unrelated normal controls" "{PMID:Shastry 1999:10544980}" "" "NDP A118D" "no nucleotide annotation, extrapolated from protein and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.43949848G>T" "" "likely pathogenic" "" "0000877968" "21" "70" "X" "43809094" "43809094" "subst" "0" "00000" "NDP_000110" "g.43809094G>T" "0/116 unrelated normal controls" "{PMID:Shastry 1999:10544980}" "" "NDP A118D" "no nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949848G>T" "" "likely pathogenic" "" "0000877969" "21" "70" "X" "43809160" "43809160" "subst" "0" "00000" "NDP_000113" "g.43809160C>T" "0/116 unrelated normal controls" "{PMID:Shastry 1999:10544980}" "" "NDP C96Y" "no nucleotide annotation, extrapolated from protein and databases; heterozygous" "Germline" "yes" "" "0" "" "" "g.43949914C>T" "" "likely pathogenic" "" "0000877982" "20" "70" "X" "43817780" "43817780" "subst" "5.59986E-6" "00000" "NDP_000003" "g.43817780G>A" "" "{PMID:Chamney 2011:21960066}" "" "NDP C>T mutation in exon 2 resulting in a substitution of arginine by cysteine (p.Arg38Cys)" "no nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43958534G>A" "" "likely pathogenic" "" "0000877997" "20" "70" "X" "43809086" "43809086" "subst" "0" "00000" "NDP_000060" "g.43809086G>A" "0/54 unrelated normal controls" "{PMID:Wu 2007:17296899}" "" "NDP c.765C>T, p.Arg121 >Trp" "obsolete nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949840G>A" "" "likely pathogenic" "" "0000877998" "20" "70" "X" "43817767" "43817767" "subst" "5.60105E-6" "00000" "NDP_000073" "g.43817767T>C" "0/54 unrelated normal controls" "{PMID:Wu 2007:17296899}" "" "NDP c.533A>G, p.His42>Arg" "obsolete nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43958521T>C" "" "likely pathogenic" "" "0000877999" "20" "70" "X" "43809253" "43809253" "subst" "0" "00000" "NDP_000114" "g.43809253C>T" "0/54 unrelated normal controls" "{PMID:Wu 2007:17296899}" "" "NDP c.602G>A, p.Cys65>Tyr" "obsolete nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43950007C>T" "" "likely pathogenic" "" "0000878000" "20" "70" "X" "43817769" "43817769" "subst" "0" "00000" "NDP_000115" "g.43817769C>G" "0/54 unrelated normal controls" "{PMID:Wu 2007:17296899}" "" "NDP c.531G>C, p.Arg41 >Ser" "obsolete nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43958523C>G" "" "likely pathogenic" "" "0000878001" "20" "70" "X" "43809266" "43809266" "subst" "0" "00000" "NDP_000093" "g.43809266G>T" "0/54 unrelated normal controls" "{PMID:Wu 2007:17296899}" "" "NDP c.589C>A, p.Leu61 >lie" "obsolete nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43950020G>T" "" "likely pathogenic" "" "0000878002" "20" "70" "X" "43817777" "43817777" "subst" "0" "00000" "NDP_000004" "g.43817777A>G" "0/54 unrelated normal controls" "{PMID:Wu 2007:17296899}" "" "NDP c.523T>C, p.Cys39>Arg" "obsolete nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43958531A>G" "" "likely pathogenic" "" "0000878003" "20" "70" "X" "43809162" "43809162" "subst" "0" "00000" "NDP_000021" "g.43809162G>T" "0/54 unrelated normal controls" "{PMID:Wu 2007:17296899}" "" "NDP c.693C>A, p.Cys95>stop" "obsolete nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949916G>T" "" "likely pathogenic" "" "0000878004" "20" "70" "X" "43809162" "43809162" "subst" "0" "00000" "NDP_000021" "g.43809162G>T" "0/54 unrelated normal controls" "{PMID:Wu 2007:17296899}" "" "NDP c.693C>A, p.Cys95>stop" "obsolete nucleotide annotation, extrapolated from protein and databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43949916G>T" "" "likely pathogenic" "" "0000878005" "20" "50" "X" "43832736" "43832747" "dup" "0" "00000" "NDP_000116" "g.43832736_43832747dup" "0/54 unrelated normal controls" "{PMID:Wu 2007:17296899}" "" "NDP c.3_4insCTCTCTCTCTCC" "obsolete nucleotide annotation, extrapolated from databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43973490_43973501dup" "" "VUS" "" "0000878006" "20" "50" "X" "43832750" "43832763" "del" "0" "00000" "NDP_000117" "g.43832750_43832763del" "0/54 unrelated normal controls; high frequency in databases (1,4% heterozygous individuals)" "{PMID:Wu 2007:17296899}" "" "NDP c.9_22del" "obsolete nucleotide annotation, extrapolated from databases; hemizygous" "Germline" "yes" "" "0" "" "" "g.43973504_43973517del" "" "VUS" "" "0000878008" "20" "50" "X" "0" "0" "" "0" "03840" "USP9X_000005" "g.?" "0/54 unrelated normal controls" "{PMID:Wu 2007:17296899}" "" "NDP c.*717T>C" "NDP c.*717T>C not possible to pinpoint the actual variant on the transcript level" "Germline" "?" "" "0" "" "" "" "" "VUS" "" "0000878017" "21" "70" "X" "43817734" "43817734" "subst" "0" "00000" "NDP_000077" "g.43817734T>C" "" "{PMID:Bao 2019:31821093}" "" "NDP HGNC:7678; NM_000266.3:exon2:c.A158G:p.Y53C;NP_000257.1:p.Tyr53Cys" "hemizygous" "Germline" "yes" "" "0" "" "" "g.43958488T>C" "" "likely pathogenic" "" "0000878018" "21" "70" "X" "43817734" "43817734" "subst" "0" "00000" "NDP_000077" "g.43817734T>C" "" "{PMID:Bao 2019:31821093}" "" "NDP HGNC:7678; NM_000266.3:exon2:c.A158G:p.Y53C;NP_000257.1:p.Tyr53Cys" "hemizygous" "Germline" "yes" "" "0" "" "" "g.43958488T>C" "" "likely pathogenic" "" "0000878019" "21" "70" "X" "43817734" "43817734" "subst" "0" "00000" "NDP_000077" "g.43817734T>C" "" "{PMID:Bao 2019:31821093}" "" "NDP HGNC:7678; NM_000266.3:exon2:c.A158G:p.Y53C;NP_000257.1:p.Tyr53Cys" "hemizygous" "Germline" "yes" "" "0" "" "" "g.43958488T>C" "" "likely pathogenic" "" "0000909337" "21" "90" "X" "43817728" "43817728" "subst" "0" "00006" "NDP_000118" "g.43817728C>A" "" "{PMID:Zhao 2022:36577125}" "" "" "" "Germline" "yes" "" "0" "" "" "g.43958482C>A" "" "pathogenic (recessive)" "" "0000909339" "21" "90" "X" "43958108" "43958908" "del" "0" "00006" "NDP_000119" "g.43958108_43958908del" "" "{PMID:Zhao 2022:36577125}" "" "del ex2 801bp" "" "Germline" "yes" "" "0" "" "" "g.43817354_43818154del" "" "pathogenic (recessive)" "" "0000951757" "0" "50" "X" "43809101" "43809101" "subst" "0" "02325" "NDP_000120" "g.43809101G>A" "" "" "" "NDP(NM_000266.4):c.346C>T (p.L116F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951758" "0" "90" "X" "43817880" "43817881" "del" "0" "02327" "NDP_000001" "g.43817880_43817881del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000987656" "3" "50" "X" "43832550" "43832550" "subst" "0" "04543" "NDP_000121" "g.43832550C>T" "" "{PMID:Basharat 2024:38815792}" "" "" "ACMG PM1, PP3" "Germline" "yes" "" "0" "" "" "g.43973304C>T" "" "VUS" "ACMG" "0000987657" "3" "50" "X" "43832550" "43832550" "subst" "0" "04543" "NDP_000121" "g.43832550C>T" "" "{PMID:Basharat 2024:38815792}" "" "" "ACMG PM1, PP3" "Germline" "yes" "" "0" "" "" "g.43973304C>T" "" "VUS" "ACMG" "0001016032" "0" "30" "X" "43832750" "43832763" "del" "0" "02330" "NDP_000117" "g.43832750_43832763del" "" "" "" "NDP(NM_000266.4):c.-396_-383delTCCCTCTCTCTCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001019627" "21" "90" "X" "43817838" "43817858" "del" "0" "00006" "NDP_000122" "g.43817838_43817858del" "" "{PMID:Jimenez 2022:36362148}" "" "37_57del21" "" "Germline" "" "" "0" "" "" "g.43958592_43958612del" "" "pathogenic (recessive)" "" "0001020066" "21" "50" "X" "43832750" "43832763" "del" "0" "00006" "NDP_000117" "g.43832750_43832763del" "" "{PMID:Hiraoka 2001:11281412}" "" "del14" "" "Germline" "" "" "0" "" "" "g.43973504_43973517del" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes NDP ## Count = 227 "{{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}}" "0000017175" "00001800" "75" "182" "0" "182" "0" "c.182T>C" "r.(?)" "p.(Leu61Pro)" "2" "0000064765" "00001800" "70" "293" "0" "293" "0" "c.293C>T" "r.(?)" "p.(Pro98Leu)" "3" "0000064768" "00001800" "90" "11" "0" "12" "0" "c.11_12del" "r.(?)" "p.(His4Argfs*21)" "2" "0000064769" "00001800" "90" "136" "0" "136" "0" "c.136del" "r.(?)" "p.(Asp46Ilefs*58)" "2" "0000064770" "00001800" "90" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.(Ser57*)" "2" "0000064771" "00001800" "90" "24" "0" "27" "0" "c.24_27dup" "r.(?)" "p.(Phe10Ilefs*17)" "2" "0000064772" "00001800" "90" "25" "0" "40" "0" "c.25_40del" "r.(?)" "p.(Ser9Profs*4)" "2" "0000064773" "00001800" "90" "38" "0" "38" "0" "c.38T>G" "r.(?)" "p.(Leu13Arg)" "2" "0000064774" "00001800" "90" "47" "0" "47" "0" "c.47T>C" "r.(?)" "p.(Leu16Pro)" "2" "0000064775" "00001800" "90" "50" "0" "50" "0" "c.50dup" "r.(?)" "p.(Ile18Aspfs*8)" "2" "0000064776" "00001800" "90" "53" "0" "53" "0" "c.53T>A" "r.(?)" "p.(Ile18Lys)" "2" "0000064777" "00001800" "90" "65" "0" "65" "0" "c.65del" "r.(?)" "p.(Thr22Lysfs*10)" "2" "0000064778" "00001800" "90" "86" "0" "86" "0" "c.86C>G" "r.(?)" "p.(Ser29*)" "2" "0000064779" "00001800" "90" "109" "0" "109" "0" "c.109C>T" "r.(?)" "p.(Arg37*)" "2" "0000064780" "00001800" "90" "205" "0" "205" "0" "c.205del" "r.(?)" "p.(Cys69Alafs*35)" "3" "0000064781" "00001800" "90" "218" "0" "218" "0" "c.218C>A" "r.(?)" "p.(Ser73*)" "3" "0000064782" "00001800" "90" "237" "0" "241" "0" "c.237_241del" "r.(?)" "p.(Ser80Glnfs*67)" "3" "0000064783" "00001800" "90" "285" "0" "285" "0" "c.285C>A" "r.(?)" "p.(Cys95*)" "3" "0000064784" "00001800" "90" "291" "0" "291" "0" "c.291del" "r.(?)" "p.(Gln99Argfs*5)" "3" "0000064785" "00001800" "90" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Arg109*)" "3" "0000064786" "00001800" "90" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Arg109*)" "3" "0000064787" "00001800" "90" "330" "0" "330" "0" "c.330C>A" "r.(?)" "p.(Cys110*)" "3" "0000064788" "00001800" "90" "332" "0" "332" "0" "c.332C>A" "r.(?)" "p.(Ser111*)" "3" "0000064789" "00001800" "90" "360" "0" "360" "0" "c.360C>A" "r.(?)" "p.(Tyr120*)" "3" "0000064790" "00001800" "90" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38Cys)" "2" "0000064791" "00001800" "90" "378" "0" "378" "0" "c.378T>A" "r.(?)" "p.(Cys126*)" "3" "0000064792" "00001800" "90" "378" "0" "378" "0" "c.378T>A" "r.(?)" "p.(Cys126*)" "3" "0000064793" "00001800" "90" "383" "0" "384" "0" "c.383_384delinsAA" "r.(?)" "p.(Cys128*)" "3" "0000064794" "00001800" "90" "384" "0" "384" "0" "c.384C>A" "r.(?)" "p.(Cys128*)" "3" "0000064795" "00001800" "70" "163" "0" "163" "0" "c.163T>C" "r.(?)" "p.(Cys55Arg)" "2" "0000064796" "00001800" "70" "199" "0" "199" "0" "c.199G>A" "r.(?)" "p.(Gly67Arg)" "3" "0000064797" "00001800" "70" "200" "0" "200" "0" "c.200G>A" "r.(?)" "p.(Gly67Glu)" "3" "0000064798" "00001800" "70" "267" "0" "267" "0" "c.267C>A" "r.(?)" "p.(Phe89Leu)" "3" "0000064799" "00001800" "70" "274" "0" "274" "0" "c.274T>C" "r.(?)" "p.(Ser92Pro)" "3" "0000064800" "00001800" "70" "293" "0" "293" "0" "c.293C>T" "r.(?)" "p.(Pro98Leu)" "3" "0000064801" "00001800" "90" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38Cys)" "2" "0000064802" "00001800" "70" "-208" "2" "-208" "2" "c.-208+2T>G" "r.spl?" "p.(0?)" "1i" "0000064803" "00001800" "70" "-208" "5" "-208" "5" "c.-208+5G>A" "r.(spl?)" "p.(0?)" "1i" "0000064804" "00001800" "90" "115" "0" "115" "0" "c.115T>C" "r.(?)" "p.(Cys39Arg)" "2" "0000064805" "00001800" "90" "115" "0" "115" "0" "c.115T>C" "r.(?)" "p.(Cys39Arg)" "2" "0000064806" "00001800" "90" "128" "0" "128" "0" "c.128dup" "r.(?)" "p.(His43Glnfs*14)" "2" "0000064807" "00001800" "90" "129" "0" "129" "0" "c.129del" "r.(?)" "p.(Tyr44Metfs*60)" "2" "0000064808" "00001800" "90" "131" "0" "131" "0" "c.131dup" "r.(?)" "p.(Tyr44*)" "2" "0000302951" "00001800" "50" "221" "0" "221" "0" "c.221G>T" "r.(?)" "p.(Arg74Leu)" "" "0000333826" "00001800" "50" "91" "0" "91" "0" "c.91A>G" "r.(?)" "p.(Ile31Val)" "" "0000338103" "00001800" "70" "-208" "5" "-208" "5" "c.-208+5G>A" "r.spl?" "p.?" "" "0000342791" "00001800" "70" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38Cys)" "" "0000342868" "00001800" "90" "122" "0" "122" "0" "c.122G>C" "r.(?)" "p.(Arg41Thr)" "" "0000344426" "00001800" "70" "163" "0" "163" "0" "c.163T>C" "r.(?)" "p.(Cys55Arg)" "" "0000348101" "00001800" "70" "265" "0" "265" "0" "c.265T>C" "r.(?)" "p.(Phe89Leu)" "" "0000576019" "00001800" "50" "239" "0" "239" "0" "c.239C>T" "r.(?)" "p.(Ser80Leu)" "" "0000576020" "00001800" "10" "69" "0" "69" "0" "c.69C>G" "r.(?)" "p.(Asp23Glu)" "" "0000576021" "00001800" "30" "69" "0" "69" "0" "c.69C>G" "r.(?)" "p.(Asp23Glu)" "" "0000594955" "00001800" "70" "-77" "0" "-77" "0" "c.-77A>G" "r.(=)" "p.(=)" "_1" "0000594957" "00001800" "70" "-77" "0" "-77" "0" "c.-77A>G" "r.(=)" "p.(=)" "_1" "0000597133" "00001800" "50" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Lys)" "2" "0000597134" "00001800" "70" "164" "0" "164" "0" "c.164G>A" "r.(?)" "p.(Cys55Tyr)" "2" "0000597135" "00001800" "70" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(Arg74Cys)" "3" "0000597136" "00001800" "90" "-54" "0" "647" "0" "c.(?_-54)_(*245_?)del" "r.0" "p.0" "_2_3_" "0000597137" "00001800" "90" "-54" "0" "647" "0" "c.(?_-54)_(*245_?)del" "r.0" "p.0" "_2_3_" "0000629687" "00001800" "50" "536" "0" "536" "0" "c.536A>G" "r.(?)" "p.(His43Arg)" "2" "0000629688" "00001800" "50" "715" "0" "715" "0" "c.715C>G" "r.(?)" "p.(Leu103Val)" "3" "0000629689" "00001800" "50" "-16" "0" "-3" "0" "c.-16_-3del" "r.(?)" "p.(?)" "_1" "0000629690" "00001800" "50" "-39" "0" "-26" "0" "c.-39_-26del" "r.(?)" "p.(=)" "_1" "0000629937" "00001800" "90" "222" "0" "223" "0" "c.222_223insCG" "r.(?)" "p.(Ser75Argfs*30)" "3" "0000629938" "00001800" "90" "222" "0" "223" "0" "c.222_223insCG" "r.(?)" "p.(Arg75Argfs*30)" "3" "0000629939" "00001800" "70" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Arg121Gln)" "3" "0000629940" "00001800" "90" "122" "0" "122" "0" "c.122G>C" "r.(?)" "p.(Arg41Thr)" "2" "0000629941" "00001800" "90" "122" "0" "122" "0" "c.122G>C" "r.(?)" "p.(Arg41Thr)" "2" "0000629942" "00001800" "90" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Trp)" "3" "0000629943" "00001800" "90" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Arg121Gln)" "3" "0000629949" "00001800" "90" "69" "0" "69" "0" "c.69del" "r.(?)" "p.(Asp23Glufs*9)" "" "0000629958" "00001800" "90" "142" "0" "145" "0" "c.142_145del" "r.(?)" "p.(Ile48Valfs*55)" "3" "0000629959" "00001800" "90" "148" "0" "148" "0" "c.148C>G" "r.(?)" "p.(His50Asp)" "" "0000629960" "00001800" "90" "148" "0" "148" "0" "c.148C>G" "r.(?)" "p.(His50Asp)" "" "0000629961" "00001800" "90" "148" "0" "148" "0" "c.148C>G" "r.(?)" "p.(His50Asp)" "" "0000629962" "00001800" "90" "338" "0" "338" "0" "c.338G>A" "r.(?)" "p.(Gly113Asp)" "" "0000629963" "00001800" "90" "376" "0" "376" "0" "c.376T>C" "r.(?)" "p.(Cys126Arg)" "" "0000629964" "00001800" "90" "11" "0" "12" "0" "c.11_12del" "r.(?)" "p.(His4Argfs*21)" "" "0000629966" "00001800" "90" "170" "0" "170" "0" "c.170C>G" "r.(?)" "p.(Ser57*)" "" "0000629967" "00001800" "90" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Arg121Gln)" "" "0000630166" "00001800" "70" "310" "0" "310" "0" "c.310A>C" "r.(?)" "p.(Lys104Gln)" "3" "0000630714" "00001800" "50" "533" "0" "533" "0" "c.533A>G" "r.(=)" "p.(His121Arg)" "2" "0000630725" "00001800" "90" "162" "0" "162" "0" "c.162G>C" "r.(?)" "p.(Lys54Asn)" "2" "0000630727" "00001800" "90" "344" "0" "344" "0" "c.344G>T" "r.(?)" "p.(Arg115Leu)" "3" "0000630729" "00001800" "90" "290" "0" "290" "0" "c.290G>C" "r.(?)" "p.(Arg97Pro)" "3" "0000630731" "00001800" "90" "175" "-1" "175" "-1" "c.175-1G>A" "r.spl" "p.?" "2i" "0000630733" "00001800" "90" "268" "0" "268" "0" "c.268del" "r.(?)" "p.(Arg90Valfs*14)" "3" "0000630742" "00001800" "90" "654" "0" "658" "0" "c.654_658del" "r.(?)" "p.(Val89fs*101)" "3" "0000630757" "00001800" "90" "125" "0" "125" "0" "c.125A>G" "r.(?)" "p.(His42Arg)" "" "0000630758" "00001800" "50" "174" "0" "174" "0" "c.174G>T" "r.(?)" "p.(Lys58Asn)" "2" "0000630759" "00001800" "50" "359" "0" "359" "0" "c.359A>G" "r.(?)" "p.(Tyr120Cys)" "3" "0000630761" "00001800" "70" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Lys)" "" "0000644079" "00001800" "90" "158" "0" "158" "0" "c.158A>G" "r.(?)" "p.(Tyr53Cys)" "2" "0000644080" "00001800" "90" "158" "0" "158" "0" "c.158A>G" "r.(?)" "p.(Tyr53Cys)" "2" "0000644082" "00001800" "90" "158" "0" "158" "0" "c.158A>G" "r.(?)" "p.(Tyr53Cys)" "2" "0000652919" "00001800" "30" "1117" "0" "1117" "0" "c.*715T>C" "r.(=)" "p.(=)" "" "0000670121" "00001800" "30" "1117" "0" "1117" "0" "c.*715T>C" "r.(=)" "p.(=)" "" "0000682438" "00001800" "30" "132" "0" "132" "0" "c.132T>C" "r.(?)" "p.(Tyr44=)" "" "0000685296" "00001800" "90" "0" "0" "0" "0" "c.?" "r.0" "p.0" "" "0000685297" "00001800" "70" "269" "0" "269" "0" "c.269G>A" "r.(?)" "p.(Arg90His)" "" "0000728908" "00001800" "70" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Trp)" "" "0000728909" "00001800" "70" "268" "0" "268" "0" "c.268C>T" "r.(?)" "p.(Arg90Cys)" "" "0000728910" "00001800" "70" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38Cys)" "" "0000731183" "00001800" "90" "196" "0" "196" "0" "c.196G>A" "r.(?)" "p.(Glu66Lys)" "" "0000731184" "00001800" "90" "203" "0" "203" "0" "c.203A>C" "r.(?)" "p.(His68Pro)" "" "0000731185" "00001800" "90" "281" "0" "281" "0" "c.281A>T" "r.(?)" "p.(His94Leu)" "" "0000731186" "00001800" "90" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Arg121Gln)" "" "0000731187" "00001800" "90" "338" "0" "338" "0" "c.338del" "r.(?)" "p.(Gly113Alafs*149)" "" "0000732659" "00001800" "90" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Arg121Gln)" "" "0000732660" "00001800" "70" "313" "0" "313" "0" "c.313G>C" "r.(?)" "p.(Ala105Pro)" "" "0000733019" "00001800" "70" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.(Gly112Glu)" "" "0000735812" "00001800" "70" "205" "0" "205" "0" "c.205T>G" "r.(?)" "p.(Cys69Gly)" "" "0000735814" "00001800" "70" "336" "0" "579" "0" "c.336_*177del" "r.(?)" "p.(Gly113Thrfs*68)" "" "0000785496" "00001800" "90" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38Cys)" "" "0000785497" "00001800" "90" "314" "0" "314" "0" "c.314C>A" "r.(?)" "p.(Ala105Glu)" "" "0000785498" "00001800" "90" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Arg121Gln)" "" "0000785499" "00001800" "90" "196" "0" "196" "0" "c.196G>T" "r.(?)" "p.(Glu66Ter)" "" "0000785500" "00001800" "90" "196" "0" "196" "0" "c.196G>T" "r.(?)" "p.(Glu66Ter)" "" "0000785501" "00001800" "90" "393" "0" "393" "0" "c.393C>A" "r.(?)" "p.(Cys131Ter)" "" "0000788420" "00001800" "50" "58" "0" "58" "0" "c.58G>A" "r.(?)" "p.(Gly20Arg)" "2" "0000790153" "00001800" "70" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Arg121Gln)" "3" "0000790154" "00001800" "70" "162" "0" "162" "0" "c.162G>C" "r.(?)" "p.(Lys54Asn)" "2" "0000795591" "00001800" "70" "181" "0" "181" "0" "c.181C>A" "r.(?)" "p.(Leu61Ile)" "3" "0000795592" "00001800" "90" "109" "0" "109" "0" "c.109C>T" "r.(?)" "p.(Arg37*)" "2" "0000798120" "00001800" "70" "376" "0" "376" "0" "c.376T>C" "r.(?)" "p.(Cys126Arg)" "3" "0000798124" "00001800" "70" "" "0" "" "0" "c.(-208+1_-207-1)_(*1024_?)" "r.(?)" "p.(?)" "_2_3_" "0000798125" "00001800" "70" "" "0" "" "0" "c.(-208+1_-207-1)_(*1024_?)" "r.(?)" "p.(?)" "_2_3_" "0000798126" "00001800" "70" "" "0" "" "0" "c.(-208+1_-207-1)_(*1024_?)" "r.(?)" "p.(?)" "_2_3_" "0000798127" "00001800" "70" "" "0" "" "0" "c.(-208+1_-207-1)_(*1024_?)" "r.(?)" "p.(?)" "_2_3_" "0000810394" "00001800" "90" "237" "0" "241" "0" "c.237_241del" "r.(?)" "p.(Ser80Glnfs*67)" "" "0000811577" "00001800" "70" "281" "0" "281" "0" "c.281A>T" "r.(?)" "p.(His94Leu)" "2" "0000811578" "00001800" "70" "391" "0" "391" "0" "c.391T>G" "r.(?)" "p.(Cys131Gly)" "3" "0000811579" "00001800" "70" "391" "0" "391" "0" "c.391T>G" "r.(?)" "p.(Cys131Gly)" "3" "0000811580" "00001800" "70" "196" "0" "196" "0" "c.196G>A" "r.(?)" "p.(Glu66Lys)" "3" "0000811581" "00001800" "70" "338" "0" "338" "0" "c.338G>A" "r.(?)" "p.(Gly113Asp)" "3" "0000811582" "00001800" "70" "181" "0" "181" "0" "c.181C>G" "r.(?)" "p.(Leu61Val)" "3" "0000811583" "00001800" "70" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Arg121Gln)" "3" "0000811584" "00001800" "70" "338" "0" "338" "0" "c.338del" "r.(?)" "p.(Gly113Alafs*149)" "3" "0000811791" "00001800" "70" "258" "0" "258" "0" "c.258G>T" "r.(?)" "p.(Lys86Asn)" "" "0000812571" "00001800" "70" "314" "0" "314" "0" "c.314C>A" "r.(?)" "p.(Ala105Glu)" "" "0000812572" "00001800" "70" "391" "0" "391" "0" "c.391T>G" "r.(?)" "p.(Cys131Gly)" "" "0000812613" "00001800" "70" "122" "0" "122" "0" "c.122G>A" "r.(?)" "p.(Arg41Lys)" "" "0000812615" "00001800" "70" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Leu61Phe)" "" "0000812667" "00001800" "70" "174" "0" "174" "0" "c.174G>T" "r.(?)" "p.(Lys58Asn)" "" "0000812668" "00001800" "70" "279" "0" "279" "0" "c.279T>A" "r.(?)" "p.(Cys93*)" "" "0000812674" "00001800" "70" "338" "0" "338" "0" "c.338G>A" "r.(?)" "p.(Gly113Asp)" "" "0000812735" "00001800" "90" "-208" "1" "-208" "1" "c.-208+1G>A" "r.spl" "p.(?)" "" "0000812846" "00001800" "70" "338" "0" "338" "0" "c.338G>C" "r.(?)" "p.(Gly113Ala)" "" "0000817685" "00001800" "70" "-207" "-1" "174" "1" "c.(-208+1_-207-1)_(174+1_175-1)del" "r.spl" "p.(?)" "" "0000817703" "00001800" "70" "162" "0" "162" "0" "c.162G>C" "r.(?)" "p.(Lys54Asn)" "" "0000818242" "00001800" "70" "195" "0" "195" "0" "c.195C>G" "r.(?)" "p.(Cys65Trp)" "3" "0000818243" "00001800" "70" "195" "0" "195" "0" "c.195C>G" "r.(?)" "p.(Cys65Trp)" "3" "0000818245" "00001800" "90" "52" "0" "53" "0" "c.52_53ins(32)" "r.(?)" "p.(Ser29fs)" "2" "0000818248" "00001800" "90" "127" "0" "127" "0" "c.127C>A" "r.(?)" "p.(His43Asn)" "2" "0000818579" "00001800" "50" "188" "0" "188" "0" "c.188C>T" "r.(?)" "p.(Ala63Val)" "" "0000818580" "00001800" "50" "188" "0" "188" "0" "c.188C>T" "r.(?)" "p.(Ala63Val)" "" "0000823624" "00001800" "90" "181" "0" "181" "0" "c.181C>A" "r.(?)" "p.(Leu61Ile)" "3" "0000823625" "00001800" "90" "134" "0" "134" "0" "c.134T>G" "r.(?)" "p.(Val45Gly)" "2" "0000823626" "00001800" "90" "134" "0" "134" "0" "c.134T>A" "r.(?)" "p.(Val45Glu)" "2" "0000826348" "00001800" "70" "175" "-1" "1425" "1" "c.175-1_*1023+1dup" "r.spl?" "p.?" "2i_3" "0000856617" "00001800" "50" "239" "0" "239" "0" "c.239C>T" "r.(?)" "p.(Ser80Leu)" "" "0000867374" "00001800" "30" "165" "0" "165" "0" "c.165T>C" "r.(?)" "p.(Cys55=)" "" "0000877922" "00001800" "70" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.(Gly112Glu)" "" "0000877923" "00001800" "70" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.(Gly112Glu)" "" "0000877924" "00001800" "70" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.(Gly112Glu)" "" "0000877925" "00001800" "70" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.(Gly112Glu)" "" "0000877926" "00001800" "70" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.(Gly112Glu)" "" "0000877927" "00001800" "70" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.(Gly112Glu)" "" "0000877928" "00001800" "70" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.(Gly112Glu)" "" "0000877929" "00001800" "70" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.(Gly112Glu)" "" "0000877930" "00001800" "70" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(Arg74Cys)" "" "0000877931" "00001800" "70" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(Arg74Cys)" "" "0000877932" "00001800" "70" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(Arg74Cys)" "" "0000877933" "00001800" "70" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Trp)" "" "0000877934" "00001800" "70" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Trp)" "" "0000877935" "00001800" "70" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Trp)" "" "0000877936" "00001800" "70" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Leu124Phe)" "" "0000877937" "00001800" "70" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Leu124Phe)" "" "0000877938" "00001800" "70" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Leu124Phe)" "" "0000877939" "00001800" "70" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Leu124Phe)" "" "0000877940" "00001800" "70" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Leu124Phe)" "" "0000877941" "00001800" "70" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Leu124Phe)" "" "0000877942" "00001800" "70" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Trp)" "" "0000877945" "00001800" "70" "328" "0" "328" "0" "c.328T>G" "r.(?)" "p.(Cys110Gly)" "" "0000877946" "00001800" "70" "328" "0" "328" "0" "c.328T>G" "r.(?)" "p.(Cys110Gly)" "" "0000877947" "00001800" "70" "328" "0" "328" "0" "c.328T>G" "r.(?)" "p.(Cys110Gly)" "" "0000877948" "00001800" "70" "328" "0" "328" "0" "c.328T>G" "r.(?)" "p.(Cys110Gly)" "" "0000877949" "00001800" "70" "328" "0" "328" "0" "c.328T>G" "r.(?)" "p.(Cys110Gly)" "" "0000877950" "00001800" "70" "313" "0" "313" "0" "c.313G>A" "r.(?)" "p.(Ala105Thr)" "" "0000877951" "00001800" "70" "313" "0" "313" "0" "c.313G>A" "r.(?)" "p.(Ala105Thr)" "" "0000877952" "00001800" "70" "313" "0" "313" "0" "c.313G>A" "r.(?)" "p.(Ala105Thr)" "" "0000877953" "00001800" "70" "313" "0" "313" "0" "c.313G>A" "r.(?)" "p.(Ala105Thr)" "" "0000877954" "00001800" "70" "313" "0" "313" "0" "c.313G>A" "r.(?)" "p.(Ala105Thr)" "" "0000877955" "00001800" "70" "313" "0" "313" "0" "c.313G>A" "r.(?)" "p.(Ala105Thr)" "" "0000877962" "00001800" "70" "353" "0" "353" "0" "c.353C>A" "r.(?)" "p.(Ala118Asp)" "" "0000877963" "00001800" "70" "353" "0" "353" "0" "c.353C>A" "r.(?)" "p.(Ala118Asp)" "" "0000877964" "00001800" "70" "353" "0" "353" "0" "c.353C>A" "r.(?)" "p.(Ala118Asp)" "" "0000877965" "00001800" "70" "353" "0" "353" "0" "c.353C>A" "r.(?)" "p.(Ala118Asp)" "" "0000877966" "00001800" "70" "353" "0" "353" "0" "c.353C>A" "r.(?)" "p.(Ala118Asp)" "" "0000877967" "00001800" "70" "353" "0" "353" "0" "c.353C>A" "r.(?)" "p.(Ala118Asp)" "" "0000877968" "00001800" "70" "353" "0" "353" "0" "c.353C>A" "r.(?)" "p.(Ala118Asp)" "" "0000877969" "00001800" "70" "287" "0" "287" "0" "c.287G>A" "r.(?)" "p.(Cys96Tyr)" "" "0000877982" "00001800" "70" "112" "0" "112" "0" "c.112C>T" "r.(?)" "p.(Arg38Cys)" "2" "0000877997" "00001800" "70" "361" "0" "361" "0" "c.361C>T" "r.(?)" "p.(Arg121Trp)" "3" "0000877998" "00001800" "70" "125" "0" "125" "0" "c.125A>G" "r.(?)" "p.(His42Arg)" "2" "0000877999" "00001800" "70" "194" "0" "194" "0" "c.194G>A" "r.(?)" "p.(Cys65Tyr)" "3" "0000878000" "00001800" "70" "123" "0" "123" "0" "c.123G>C" "r.(?)" "p.(Arg41Ser)" "2" "0000878001" "00001800" "70" "181" "0" "181" "0" "c.181C>A" "r.(?)" "p.(Leu61Ile)" "3" "0000878002" "00001800" "70" "115" "0" "115" "0" "c.115T>C" "r.(?)" "p.(Cys39Arg)" "2" "0000878003" "00001800" "70" "285" "0" "285" "0" "c.285C>A" "r.(?)" "p.(Cys95*)" "3" "0000878004" "00001800" "70" "285" "0" "285" "0" "c.285C>A" "r.(?)" "p.(Cys95*)" "3" "0000878005" "00001800" "50" "-382" "0" "-371" "0" "c.-382_-371dup" "r.(?)" "p.?" "1" "0000878006" "00001800" "50" "-396" "0" "-383" "0" "c.-396_-383del" "r.(?)" "p.?" "1" "0000878008" "00001800" "50" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "" "0000878017" "00001800" "70" "158" "0" "158" "0" "c.158A>G" "r.(?)" "p.(Tyr53Cys)" "2" "0000878018" "00001800" "70" "158" "0" "158" "0" "c.158A>G" "r.(?)" "p.(Tyr53Cys)" "2" "0000878019" "00001800" "70" "158" "0" "158" "0" "c.158A>G" "r.(?)" "p.(Tyr53Cys)" "2" "0000909337" "00001800" "90" "164" "0" "164" "0" "c.164G>T" "r.(?)" "p.(Cys55Phe)" "" "0000909339" "00001800" "90" "-207" "-54" "174" "366" "c.-207-54_174+366del" "r.?" "p.0?" "1i_2i" "0000951757" "00001800" "50" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(Leu116Phe)" "" "0000951758" "00001800" "90" "11" "0" "12" "0" "c.11_12del" "r.(?)" "p.(His4Argfs*21)" "" "0000987656" "00001800" "50" "-208" "0" "-208" "0" "c.-208G>A" "r.?" "p.?" "" "0000987657" "00001800" "50" "-208" "0" "-208" "0" "c.-208G>A" "r.?" "p.?" "" "0001016032" "00001800" "30" "-396" "0" "-383" "0" "c.-396_-383del" "r.(?)" "p.(=)" "" "0001019627" "00001800" "90" "37" "0" "57" "0" "c.37_57del" "r.(?)" "p.(Leu13_Met19del)" "" "0001020066" "00001800" "50" "-396" "0" "-383" "0" "c.-396_-383del" "r.(-396_-383del)" "p.(=)" "1" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 207 "{{screeningid}}" "{{variantid}}" "0000000421" "0000017175" "0000037617" "0000064765" "0000037621" "0000064768" "0000037622" "0000064769" "0000037623" "0000064770" "0000037624" "0000064771" "0000037625" "0000064772" "0000037626" "0000064773" "0000037627" "0000064774" "0000037628" "0000064775" "0000037629" "0000064776" "0000037630" "0000064777" "0000037631" "0000064778" "0000037632" "0000064779" "0000037633" "0000064780" "0000037634" "0000064781" "0000037635" "0000064782" "0000037636" "0000064783" "0000037637" "0000064784" "0000037638" "0000064785" "0000037639" "0000064786" "0000037640" "0000064787" "0000037641" "0000064788" "0000037642" "0000064789" "0000037643" "0000064790" "0000037644" "0000064791" "0000037645" "0000064792" "0000037646" "0000064793" "0000037647" "0000064794" "0000037648" "0000064795" "0000037649" "0000064796" "0000037650" "0000064797" "0000037651" "0000064798" "0000037652" "0000064799" "0000037653" "0000064800" "0000037654" "0000064801" "0000037655" "0000064802" "0000037656" "0000064803" "0000037657" "0000064804" "0000037658" "0000064805" "0000037659" "0000064806" "0000037660" "0000064807" "0000037661" "0000064808" "0000264408" "0000594955" "0000264409" "0000594957" "0000266453" "0000597133" "0000266471" "0000597134" "0000266472" "0000597135" "0000266473" "0000597136" "0000266474" "0000597137" "0000275616" "0000629687" "0000275617" "0000629688" "0000275618" "0000629689" "0000275619" "0000629690" "0000275835" "0000629937" "0000275835" "0000629938" "0000275836" "0000629939" "0000275837" "0000629940" "0000275838" "0000629941" "0000275839" "0000629942" "0000275840" "0000629943" "0000275841" "0000629949" "0000275842" "0000629958" "0000275843" "0000629959" "0000275844" "0000629960" "0000275845" "0000629961" "0000275846" "0000629962" "0000275847" 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"0000376616" "0000788420" "0000377728" "0000790153" "0000377729" "0000790154" "0000381973" "0000795591" "0000381974" "0000795592" "0000383840" "0000798120" "0000383844" "0000798124" "0000383845" "0000798125" "0000383846" "0000798126" "0000383847" "0000798127" "0000384785" "0000811577" "0000384786" "0000811578" "0000384787" "0000811579" "0000384788" "0000811580" "0000384789" "0000811581" "0000384790" "0000811582" "0000384791" "0000811583" "0000384792" "0000811584" "0000384953" "0000811791" "0000385502" "0000812571" "0000385503" "0000812572" "0000385535" "0000812613" "0000385537" "0000812615" "0000385578" "0000812667" "0000385579" "0000812668" "0000385585" "0000812674" "0000385638" "0000812735" "0000385731" "0000812846" "0000388891" "0000817685" "0000388905" "0000817703" "0000389298" "0000818242" "0000389298" "0000818243" "0000389300" "0000818245" "0000389303" "0000818248" "0000389493" "0000818579" "0000389494" "0000818580" "0000393038" "0000823624" "0000393039" "0000823625" "0000393040" "0000823626" "0000395134" "0000826348" "0000418167" "0000877922" "0000418168" "0000877923" "0000418169" "0000877924" "0000418170" "0000877925" "0000418171" "0000877926" "0000418172" "0000877927" "0000418173" "0000877928" "0000418174" "0000877929" "0000418175" "0000877930" "0000418176" "0000877931" "0000418177" "0000877932" "0000418178" "0000877933" "0000418179" "0000877934" "0000418180" "0000877935" "0000418181" "0000877936" "0000418182" "0000877937" "0000418183" "0000877938" "0000418184" "0000877939" "0000418185" "0000877940" "0000418186" "0000877941" "0000418187" "0000877942" "0000418189" "0000877945" "0000418190" "0000877946" "0000418191" "0000877947" "0000418192" "0000877948" "0000418193" "0000877949" "0000418194" "0000877950" "0000418195" "0000877951" "0000418196" "0000877952" "0000418197" "0000877953" "0000418198" "0000877954" "0000418199" "0000877955" "0000418200" "0000877962" "0000418201" "0000877963" "0000418202" "0000877964" "0000418203" "0000877965" "0000418204" "0000877966" "0000418205" "0000877967" "0000418206" "0000877968" "0000418207" "0000877969" "0000418226" "0000877982" "0000418249" "0000877997" "0000418250" "0000877998" "0000418251" "0000877999" "0000418252" "0000878000" "0000418253" "0000878001" "0000418254" "0000878002" "0000418255" "0000878003" "0000418256" "0000878004" "0000418257" "0000878005" "0000418258" "0000878006" "0000418260" "0000878008" "0000418268" "0000878017" "0000418269" "0000878018" "0000418270" "0000878019" "0000429727" "0000909337" "0000429728" "0000909339" "0000453143" "0000987656" "0000453144" "0000987657" "0000460617" "0001019627" "0000461025" "0001020066"