### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RBP4) # 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}}" "RBP4" "retinol binding protein 4, plasma" "10" "q23-q24" "unknown" "NG_009104.1" "UD_132084424265" "" "https://www.LOVD.nl/RBP4" "" "1" "9922" "5950" "180250" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/RBP4_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-04 00:00:00" "00006" "2020-11-26 19:06:52" "00000" "2024-08-28 13:16:32" ## 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}}" "00017560" "RBP4" "retinol binding protein 4, plasma" "001" "NM_006744.3" "" "NP_006735.2" "" "" "" "-84" "845" "606" "95360993" "95351593" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{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" "" "" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00356" "MCOP" "anoophthalmia/microphthalmia" "" "" "" "" "" "00006" "2014-03-14 18:41:31" "00006" "2025-11-23 21:29:13" "00381" "RD" "dystrophy, retinal (RD)" "" "" "" "" "" "00006" "2014-05-09 11:59:52" "00006" "2015-12-07 07:11:25" "00402" "OCCO" "coloboma, ocular (OCCO)" "" "" "" "" "" "00006" "2014-06-06 10:27:02" "00006" "2015-12-07 07:11:25" "01173" "-" "amyloidosis, hereditary, transthyretin-related" "AD" "105210" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03839" "RDCCAS" "dystrophy, retinal, iris coloboma, and comedogenic acne syndrome" "AR" "615147" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-12-22 18:05:51" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04643" "MCOPCB10" "microphthalmia, isolated, with coloboma, type 10" "AD" "616428" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2023-12-22 18:05:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "RBP4" "03839" "RBP4" "04643" ## Individuals ## Do not remove or alter this header ## ## Count = 297 "{{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}}" "00038828" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038829" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038832" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038833" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038836" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038837" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038840" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038841" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038842" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038843" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038845" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038848" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038849" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038851" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038852" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038853" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038855" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038857" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038863" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038865" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038869" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038873" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038874" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038875" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038876" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038880" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038881" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038882" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038884" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038889" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038891" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038892" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038893" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038897" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038899" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038901" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038902" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038906" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038914" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038915" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038916" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038917" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038918" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038919" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038920" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038921" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038923" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038924" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038925" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038926" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038928" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038929" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038930" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038931" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038932" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038934" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038935" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038936" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038938" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038940" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038941" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038942" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038944" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038945" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038947" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038949" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038953" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038957" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038958" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038963" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038964" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038965" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038966" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038969" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038970" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038971" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038972" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038973" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038974" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038975" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038976" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038977" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038978" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038979" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038983" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038984" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038990" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038992" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038993" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038994" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038995" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00038997" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00038999" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039000" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039002" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039003" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039004" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039007" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039008" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039009" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039010" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039011" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039012" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039013" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039014" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039015" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039016" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039018" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039020" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039023" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039024" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039027" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039028" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039030" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039032" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039033" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039034" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039035" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039036" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039038" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039039" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039041" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039043" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039045" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039051" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039052" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039057" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039058" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039062" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039063" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039065" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039066" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039067" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039068" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039069" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039075" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039077" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039079" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039081" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039082" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039090" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039096" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039097" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039098" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039099" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039100" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039102" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039103" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039104" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039109" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039112" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039114" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039116" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039118" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039119" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039120" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039123" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039124" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039125" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039127" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039128" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039134" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039135" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039137" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039138" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039140" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039141" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039142" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039144" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039147" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039149" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" 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"Portugal" "" "0" "" "" "" "" "00039191" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039192" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039193" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039194" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039195" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039196" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039197" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039198" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039206" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039207" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039208" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039209" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039210" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039211" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039220" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039221" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039224" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039230" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039235" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039238" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039241" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039242" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039244" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039246" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039249" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039250" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039251" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039252" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039253" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039255" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039256" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039257" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039258" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039260" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039265" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039266" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039267" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039269" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039270" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039278" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039279" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039280" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039281" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039284" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039289" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039290" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039291" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039294" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039295" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039296" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039297" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039300" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039301" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039302" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039304" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039306" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039307" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039311" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039312" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039313" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039314" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039315" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039317" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039318" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039319" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039321" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039322" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039324" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039325" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039329" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039330" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039331" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039333" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039334" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039335" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039340" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00039341" "" "" "" "1" "" "01288" "" "" "F" "" "Portugal" "" "0" "" "" "" "" "00039344" "" "" "" "1" "" "01288" "" "" "M" "" "Portugal" "" "0" "" "" "" "" "00328014" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G001053" "00382405" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "234" "00390359" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001053" "00394623" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "yes" "" "" "0" "" "" "" "" "00444354" "" "" "" "2" "" "00006" "{PMID:Seeliger 1999:9888420}" "2-generation family, 2 affected sisters, unaffected heterozygous parents" "F" "" "Germany" "" "0" "" "" "" "FamPatBR/MT" "00444355" "" "" "" "2" "" "00006" "{PMID:Cukras 2012:23189188}" "6-generation family, affected brother/sister, unaffected heterozygous parents/relatives" "F;M" "yes" "United States" "" "0" "" "" "white" "FamPatIV2/4" "00444356" "" "" "" "11" "" "00006" "{PMID:Chou 2015:25910211}" "7-generation family, 4 affected (3F, 8M)" "F;M" "" "United States" "" "0" "" "" "" "Fam1" "00444357" "" "" "" "1" "" "00006" "{PMID:Chou 2015:25910211}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "United States" "" "0" "" "" "" "Fam2" "00444358" "" "" "" "1" "" "00006" "{PMID:Chou 2015:25910211}" "2-generation family, 1 affected, unaffected carrier mother" "F" "" "United States" "" "0" "" "" "" "Fam3" "00444359" "" "" "" "2" "" "00006" "{PMID:Cehajic-Kapetanovic 2020:32323592}" "4-generation family, 2 affected brothers, unaffected parents" "M" "" "Wales" "" "0" "" "" "" "patient" "00444360" "" "" "" "2" "" "00006" "{PMID:Kessel 2022:36317196}" "5-generation family, 2 affected (brother/sister), unaffected non-carrier mother/relatives" "F;M" "" "Denmark" "" "0" "" "" "" "FamPatIV1/2" "00444361" "" "" "" "1" "" "00006" "{PMID:Khan 2017:27892788}" "2-generation family, 1 affected, unaffected parents" "F" "yes" "Iran" "" "0" "" "" "" "patient" "00444362" "" "" "" "2" "" "00006" "{PMID:Kaur 2023:36342076}" "2-generation family, 2 affected, fetuses unaffected carrier mother" "" "" "India" "" "0" "" "" "" "Fam" "00444363" "" "" "" "1" "" "00006" "{PMID:Riera 2017:29178648}" "4-generation family, 1 affected, unaffected parents/relatives" "M" "" "Spain" "" "0" "" "" "" "FamMA_3" "00444372" "" "" "" "1" "" "00006" "{PMID:Aubert-Mucca 2021:32737437}" "2-generation family, 1 affected" "M" "" "France" "" "0" "" "" "" "SG102327" "00444375" "" "" "" "2" "" "00006" "{PMID:Plaisancie 2023:37586836}" "2-generation family, 2 affected fetuses (brother/sister), unaffected carrier mother" "F;M" "" "France" "<0d" "0" "" "" "" "Fam1" "00444376" "" "" "" "2" "" "00006" "{PMID:Plaisancie 2023:37586836}" "2-generation family, 2 affected (brother/sister), unaffected carrier mother" "F;M" "" "France" "" "0" "" "" "" "Fam2" "00444377" "" "" "" "2" "" "00006" "{PMID:Plaisancie 2023:37586836}" "3-generation family, 2 affected (grandmother/girl), unaffected carrier mother" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam3" "00444378" "" "" "" "3" "" "00006" "{PMID:Plaisancie 2023:37586836}" "2-generation family, 3 affected fetuses (3M), unaffected carrier mother" "M" "" "France" "<0d" "0" "" "" "" "Fam4" "00444379" "" "" "" "1" "" "00006" "{PMID:Plaisancie 2023:37586836}" "2-generation family, 1 affected, unaffected parents" "F" "" "France" "" "0" "" "" "" "Fam5" "00444380" "" "" "" "2" "" "00006" "{PMID:Plaisancie 2023:37586836}" "3-generation family, 2 affected (mother/daughter), unaffected parents" "F" "" "France" "" "0" "" "" "" "Fam6" "00444381" "" "" "" "1" "" "00006" "{PMID:Plaisancie 2023:37586836}" "2-generation family, 1 affected, unaffected carrier mother/3 carrier brothers" "F" "" "France" "" "0" "" "" "" "Fam7" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 297 "{{individualid}}" "{{diseaseid}}" "00038828" "01173" "00038829" "00000" "00038832" "01173" "00038833" "00000" "00038836" "01173" "00038837" "01173" "00038840" "01173" "00038841" "01173" "00038842" "01173" "00038843" "01173" "00038845" "01173" "00038848" "01173" "00038849" "01173" "00038851" "01173" "00038852" "01173" "00038853" "01173" "00038855" "00000" "00038857" "01173" "00038863" "01173" "00038865" "01173" "00038869" "01173" "00038873" "01173" "00038874" "01173" "00038875" "01173" 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"00381" "00444362" "00198" "00444363" "00356" "00444372" "00402" "00444375" "00356" "00444376" "00356" "00444377" "00356" "00444378" "00356" "00444379" "00356" "00444380" "00198" "00444381" "00356" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00112, 00198, 00356, 00381, 00402, 01173, 03839, 04214, 04643 ## Count = 297 "{{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}}" "0000029170" "01173" "00038828" "01288" "Familial, autosomal dominant" "" "" "25y" "" "" "" "" "" "" "" "" "" "" "0000029171" "00198" "00038829" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029174" "01173" "00038832" "01288" "Familial, autosomal dominant" "" "" "29y" "" "" "" "" "" "" "" "" "" "" "0000029175" "00198" "00038833" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029178" "01173" "00038836" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029179" "01173" "00038837" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029182" "01173" "00038840" "01288" "Familial, autosomal dominant" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "0000029183" "01173" "00038841" "01288" "Familial, autosomal dominant" "" "" "48y" "" "" "" "" "" "" "" "" "" "" "0000029184" "01173" "00038842" "01288" "Familial, autosomal dominant" "" "" "66y" "" "" "" "" "" "" "" "" "" "" "0000029185" "01173" "00038843" "01288" "Familial, autosomal dominant" "" "" "38y" "" "" "" "" "" "" "" "" "" "" "0000029187" "01173" "00038845" "01288" "Familial, autosomal dominant" "" "" "59y" "" "" "" "" "" "" "" "" "" "" "0000029190" "01173" "00038848" "01288" "Familial, autosomal dominant" "" "" "50y" "" "" "" "" "" "" "" "" "" "" "0000029191" "01173" "00038849" "01288" "Familial, autosomal dominant" "" "" "59y" "" "" "" "" "" "" "" "" "" "" "0000029193" "01173" "00038851" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029194" "01173" "00038852" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029195" "01173" "00038853" "01288" "Familial, autosomal dominant" "" "" "39y" "" "" "" "" "" "" "" "" "" "" "0000029197" "00198" "00038855" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029199" "01173" "00038857" "01288" "Familial, autosomal dominant" "" "" "29y" "" "" "" "" "" "" "" "" "" "" "0000029205" "01173" "00038863" "01288" "Familial, autosomal dominant" "" "" "38y" "" "" "" "" "" "" "" "" "" "" "0000029207" "01173" "00038865" "01288" "Familial, autosomal dominant" "" "" "28y" "" "" "" "" "" "" "" "" "" "" "0000029211" "01173" "00038869" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "0000029215" "01173" "00038873" "01288" "Familial, autosomal dominant" "" "" "46y" "" "" "" "" "" "" "" "" "" "" "0000029216" "01173" "00038874" "01288" "Familial, autosomal dominant" "" "" "22y" "" "" "" "" "" "" "" "" "" "" "0000029217" "01173" "00038875" "01288" "Familial, autosomal dominant" "" "" "26y" "" "" "" "" "" "" "" "" "" "" "0000029218" "01173" "00038876" "01288" "Familial, autosomal dominant" "" "" "32y" "" "" "" "" "" "" "" "" "" "" "0000029222" "01173" "00038880" "01288" "Familial, autosomal dominant" "" "" "40y" "" "" "" "" "" "" "" "" "" "" "0000029223" "01173" "00038881" "01288" "Familial, autosomal dominant" "" "" "42y" "" "" "" "" "" "" "" "" "" "" "0000029224" "01173" "00038882" "01288" "Familial, autosomal dominant" "" "" "37y" "" "" "" "" "" "" "" "" "" "" "0000029226" "01173" "00038884" "01288" "Familial, autosomal dominant" "" "" "25y" "" "" "" "" "" "" "" "" "" "" "0000029231" "01173" "00038889" "01288" "Familial, autosomal dominant" "" "" "23y" "" "" "" "" "" "" "" "" "" "" "0000029233" "00198" "00038891" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029234" "01173" "00038892" "01288" "Familial, autosomal dominant" "" "" "56y" "" "" "" "" "" "" "" "" "" "" "0000029235" "01173" "00038893" "01288" "Familial, autosomal dominant" "" "" "51y" "" "" "" "" "" "" "" "" "" "" "0000029239" "01173" "00038897" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029241" "01173" "00038899" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "0000029243" "01173" "00038901" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029244" "01173" "00038902" "01288" "Familial, autosomal dominant" "" "" "27y" "" "" "" "" "" "" "" "" "" "" "0000029248" "01173" "00038906" "01288" "Familial, autosomal dominant" "" "" "40y" "" "" "" "" "" "" "" "" "" "" "0000029256" "01173" "00038914" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "0000029257" "01173" "00038915" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "0000029258" "01173" "00038916" "01288" "Familial, autosomal dominant" "" "" "31y" "" "" "" "" "" "" "" "" "" "" "0000029259" "00198" "00038917" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029260" "00198" "00038918" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029261" "01173" "00038919" "01288" "Familial, autosomal dominant" "" "" "39y" "" "" "" "" "" "" "" "" "" "" "0000029262" "01173" "00038920" "01288" "Familial, autosomal dominant" "" "" "26y" "" "" "" "" "" "" "" "" "" "" "0000029263" "01173" "00038921" "01288" "Familial, autosomal dominant" "" "" "41y" "" "" "" "" "" "" "" "" "" "" "0000029265" "01173" "00038923" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029266" "01173" "00038924" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029267" "00198" "00038925" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029268" "01173" "00038926" "01288" "Familial, autosomal dominant" "" "" "59y" "" "" "" "" "" "" "" "" "" "" "0000029270" "00198" "00038928" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029271" "01173" "00038929" "01288" "Familial, autosomal dominant" "" "" "61y" "" "" "" "" "" "" "" "" "" "" "0000029272" "00198" "00038930" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029273" "01173" "00038931" "01288" "Familial, autosomal dominant" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "0000029274" "01173" "00038932" "01288" "Familial, autosomal dominant" "" "" "53y" "" "" "" "" "" "" "" "" "" "" "0000029276" "01173" "00038934" "01288" "Familial, autosomal dominant" "" "" "29y" "" "" "" "" "" "" "" "" "" "" "0000029277" "01173" "00038935" "01288" "Familial, autosomal dominant" "" "" "47y" "" "" "" "" "" "" "" "" "" "" "0000029278" "00198" "00038936" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029280" "01173" "00038938" "01288" "Familial, autosomal dominant" "" "" "44y" "" "" "" "" "" "" "" "" "" "" "0000029282" "00198" "00038940" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029283" "00198" "00038941" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029284" "01173" "00038942" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029286" "01173" "00038944" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029287" "00198" "00038945" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029289" "01173" "00038947" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029291" "01173" "00038949" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029295" "01173" "00038953" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029299" "01173" "00038957" "01288" "Familial, autosomal dominant" "" "" "58y" "" "" "" "" "" "" "" "" "" "" "0000029300" "01173" "00038958" "01288" "Familial, autosomal dominant" "" "" "51y" "" "" "" "" "" "" "" "" "" "" "0000029305" "01173" "00038963" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029306" "01173" "00038964" "01288" "Familial, autosomal dominant" "" "" "37y" "" "" "" "" "" "" "" "" "" "" "0000029307" "01173" "00038965" "01288" "Familial, autosomal dominant" "" "" "25y" "" "" "" "" "" "" "" "" "" "" "0000029308" "01173" "00038966" "01288" "Familial, autosomal dominant" "" "" "26y" "" "" "" "" "" "" "" "" "" "" "0000029311" "01173" "00038969" "01288" "Familial, autosomal dominant" "" "" "44y" "" "" "" "" "" "" "" "" "" "" "0000029312" "01173" "00038970" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029313" "01173" "00038971" "01288" "Familial, autosomal dominant" "" "" "31y" "" "" "" "" "" "" "" "" "" "" "0000029314" "01173" "00038972" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029315" "01173" "00038973" "01288" "Familial, autosomal dominant" "" "" "32y" "" "" "" "" "" "" "" "" "" "" "0000029316" "00198" "00038974" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029317" "01173" "00038975" "01288" "Familial, autosomal dominant" "" "" "38y" "" "" "" "" "" "" "" "" "" "" "0000029318" "01173" "00038976" "01288" "Familial, autosomal dominant" "" "" "43y" "" "" "" "" "" "" "" "" "" "" "0000029319" "01173" "00038977" "01288" "Familial, autosomal dominant" "" "" "31y" "" "" "" "" "" "" "" "" "" "" "0000029320" "01173" "00038978" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029321" "01173" "00038979" "01288" "Familial, autosomal dominant" "" "" "39y" "" "" "" "" "" "" "" "" "" "" "0000029325" "01173" "00038983" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "0000029326" "01173" "00038984" "01288" "Familial, autosomal dominant" "" "" "27y" "" "" "" "" "" "" "" "" "" "" "0000029332" "01173" "00038990" "01288" "Familial, autosomal dominant" "" "" "48y" "" "" "" "" "" "" "" "" "" "" "0000029334" "01173" "00038992" "01288" "Familial, autosomal dominant" "" "" "42y" "" "" "" "" "" "" "" "" "" "" "0000029335" "01173" "00038993" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029336" "01173" "00038994" "01288" "Familial, autosomal dominant" "" "" "38y" "" "" "" "" "" "" "" "" "" "" "0000029337" "01173" "00038995" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029339" "01173" "00038997" "01288" "Familial, autosomal dominant" "" "" "28y" "" "" "" "" "" "" "" "" "" "" "0000029341" "01173" "00038999" "01288" "Familial, autosomal dominant" "" "" "28y" "" "" "" "" "" "" "" "" "" "" "0000029342" "01173" "00039000" "01288" "Familial, autosomal dominant" "" "" "35y" "" "" "" "" "" "" "" "" "" "" "0000029344" "01173" "00039002" "01288" "Familial, autosomal dominant" "" "" "33y" "" "" "" "" "" "" "" "" "" "" "0000029345" "01173" "00039003" "01288" "Familial, autosomal dominant" "" "" "31y" "" "" "" "" "" "" "" "" "" "" "0000029346" "00198" "00039004" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029349" "01173" "00039007" "01288" "Familial, autosomal dominant" "" "" "24y" "" "" "" "" "" "" "" "" "" "" "0000029350" "01173" "00039008" "01288" "Familial, autosomal dominant" "" "" "28y" "" "" "" "" "" "" "" "" "" "" "0000029351" "00198" "00039009" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029352" "00198" "00039010" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029353" "01173" "00039011" "01288" "Familial, autosomal dominant" "" "" "44y" "" "" "" "" "" "" "" "" "" "" "0000029354" "01173" "00039012" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "0000029355" "01173" "00039013" "01288" "Familial, autosomal dominant" "" "" "66y" "" "" "" "" "" "" "" "" "" "" "0000029356" "01173" "00039014" "01288" "Familial, autosomal dominant" "" "" "46y" "" "" "" "" "" "" "" "" "" "" "0000029357" "00198" "00039015" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029358" "01173" "00039016" "01288" "Familial, autosomal dominant" "" "" "27y" "" "" "" "" "" "" "" "" "" "" "0000029360" "00198" "00039018" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029362" "01173" "00039020" "01288" "Familial, autosomal dominant" "" "" "40y" "" "" "" "" "" "" "" "" "" "" "0000029365" "01173" "00039023" "01288" "Familial, autosomal dominant" "" "" "39y" "" "" "" "" "" "" "" "" "" "" "0000029366" "01173" "00039024" "01288" "Familial, autosomal dominant" "" "" "50y" "" "" "" "" "" "" "" "" "" "" "0000029369" "01173" "00039027" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029370" "01173" "00039028" "01288" "Familial, autosomal dominant" "" "" "25y" "" "" "" "" "" "" "" "" "" "" "0000029372" "01173" "00039030" "01288" "Familial, autosomal dominant" "" "" "52y" "" "" "" "" "" "" "" "" "" "" "0000029374" "01173" "00039032" "01288" "Familial, autosomal dominant" "" "" "42y" "" "" "" "" "" "" "" "" "" "" "0000029375" "01173" "00039033" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029376" "01173" "00039034" "01288" "Familial, autosomal dominant" "" "" "29y" "" "" "" "" "" "" "" "" "" "" "0000029377" "01173" "00039035" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029378" "01173" "00039036" "01288" "Familial, autosomal dominant" "" "" "28y" "" "" "" "" "" "" "" "" "" "" "0000029380" "01173" "00039038" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029381" "01173" "00039039" "01288" "Familial, autosomal dominant" "" "" "31y" "" "" "" "" "" "" "" "" "" "" "0000029383" "01173" "00039041" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "0000029385" "01173" "00039043" "01288" "Familial, autosomal dominant" "" "" "36y" "" "" "" "" "" "" "" "" "" "" "0000029387" "01173" "00039045" "01288" "Familial, autosomal dominant" "" "" "38y" "" "" "" "" "" "" "" "" "" "" "0000029393" "01173" "00039051" "01288" "Familial, autosomal dominant" "" "" "35y" "" "" "" "" "" "" "" "" "" "" "0000029394" "01173" "00039052" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029399" "01173" "00039057" "01288" "Familial, autosomal dominant" "" "" "33y" "" "" "" "" "" "" "" "" "" "" "0000029400" "01173" "00039058" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029404" "01173" "00039062" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029405" "01173" "00039063" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029407" "01173" "00039065" "01288" "Familial, autosomal dominant" "" "" "62y" "" "" "" "" "" "" "" "" "" "" "0000029408" "01173" "00039066" "01288" "Familial, autosomal dominant" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "0000029409" "01173" "00039067" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029410" "01173" "00039068" "01288" "Familial, autosomal dominant" "" "" "35y" "" "" "" "" "" "" "" "" "" "" "0000029411" "01173" "00039069" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029417" "00198" "00039075" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029419" "00198" "00039077" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029421" "00198" "00039079" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029423" "01173" "00039081" "01288" "Familial, autosomal dominant" "" "" "59y" "" "" "" "" "" "" "" "" "" "" "0000029424" "01173" "00039082" "01288" "Familial, autosomal dominant" "" "" "58y" "" "" "" "" "" "" "" "" "" "" "0000029432" "01173" "00039090" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "0000029438" "01173" "00039096" "01288" "Familial, autosomal dominant" "" "" "21y" "" "" "" "" "" "" "" "" "" "" "0000029439" "01173" "00039097" "01288" "Familial, autosomal dominant" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "0000029440" "01173" "00039098" "01288" "Familial, autosomal dominant" "" "" "32y" "" "" "" "" "" "" "" "" "" "" "0000029441" "01173" "00039099" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029442" "01173" "00039100" "01288" "Familial, autosomal dominant" "" "" "29y" "" "" "" "" "" "" "" "" "" "" "0000029444" "01173" "00039102" "01288" "Familial, autosomal dominant" "" "" "23y" "" "" "" "" "" "" "" "" "" "" "0000029445" "01173" "00039103" "01288" "Familial, autosomal dominant" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "0000029446" "01173" "00039104" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029451" "01173" "00039109" "01288" "Familial, autosomal dominant" "" "" "32y" "" "" "" "" "" "" "" "" "" "" "0000029454" "01173" "00039112" "01288" "Familial, autosomal dominant" "" "" "39y" "" "" "" "" "" "" "" "" "" "" "0000029456" "01173" "00039114" "01288" "Familial, autosomal dominant" "" "" "66y" "" "" "" "" "" "" "" "" "" "" "0000029458" "01173" "00039116" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029460" "01173" "00039118" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029461" "01173" "00039119" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029462" "01173" "00039120" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029465" "01173" "00039123" "01288" "Familial, autosomal dominant" "" "" "46y" "" "" "" "" "" "" "" "" "" "" "0000029466" "01173" "00039124" "01288" "Familial, autosomal dominant" "" "" "32y" "" "" "" "" "" "" "" "" "" "" "0000029467" "01173" "00039125" "01288" "Familial, autosomal dominant" "" "" "27y" "" "" "" "" "" "" "" "" "" "" "0000029469" "01173" "00039127" "01288" "Familial, autosomal dominant" "" "" "27y" "" "" "" "" "" "" "" "" "" "" "0000029470" "01173" "00039128" "01288" "Familial, autosomal dominant" "" "" "29y" "" "" "" "" "" "" "" "" "" "" "0000029476" "01173" "00039134" "01288" "Familial, autosomal dominant" "" "" "64y" "" "" "" "" "" "" "" "" "" "" "0000029477" "00198" "00039135" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029479" "01173" "00039137" "01288" "Familial, autosomal dominant" "" "" "39y" "" "" "" "" "" "" "" "" "" "" "0000029480" "01173" "00039138" "01288" "Familial, autosomal dominant" "" "" "28y" "" "" "" "" "" "" "" "" "" "" "0000029482" "01173" "00039140" "01288" "Familial, autosomal dominant" "" "" "38y" "" "" "" "" "" "" "" "" "" "" "0000029483" "01173" "00039141" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029484" "01173" "00039142" "01288" "Familial, autosomal dominant" "" "" "69y" "" "" "" "" "" "" "" "" "" "" "0000029486" "01173" "00039144" "01288" "Familial, autosomal dominant" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "0000029489" "01173" "00039147" "01288" "Familial, autosomal dominant" "" "" "42y" "" "" "" "" "" "" "" "" "" "" "0000029491" "01173" "00039149" "01288" "Familial, autosomal dominant" "" "" "26y" "" "" "" "" "" "" "" "" "" "" "0000029492" "01173" "00039150" "01288" "Familial, autosomal dominant" "" "" "66y" "" "" "" "" "" "" "" "" "" "" "0000029494" "01173" "00039152" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029497" "01173" "00039155" "01288" "Familial, autosomal dominant" "" "" "71y" "" "" "" "" "" "" "" "" "" "" "0000029498" "01173" "00039156" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029499" "01173" "00039157" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029501" "01173" "00039159" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029504" "01173" "00039162" "01288" "Familial, autosomal dominant" "" "" "35y" "" "" "" "" "" "" "" "" "" "" "0000029505" "00198" "00039163" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029506" "01173" "00039164" "01288" "Familial, autosomal dominant" "" "" "57y" "" "" "" "" "" "" "" "" "" "" "0000029508" "00198" "00039166" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029510" "00198" "00039168" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029511" "01173" "00039169" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029512" "01173" "00039170" "01288" "Familial, autosomal dominant" "" "" "64y" "" "" "" "" "" "" "" "" "" "" "0000029514" "01173" "00039172" "01288" "Familial, autosomal dominant" "" "" "47y" "" "" "" "" "" "" "" "" "" "" "0000029515" "01173" "00039173" "01288" "Familial, autosomal dominant" "" "" "27y" "" "" "" "" "" "" "" "" "" "" "0000029517" "01173" "00039175" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029518" "01173" "00039176" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029520" "01173" "00039178" "01288" "Familial, autosomal dominant" "" "" "56y" "" "" "" "" "" "" "" "" "" "" "0000029521" "01173" "00039179" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029522" "01173" "00039180" "01288" "Familial, autosomal dominant" "" "" "67y" "" "" "" "" "" "" "" "" "" "" "0000029523" "01173" "00039181" "01288" "Familial, autosomal dominant" "" "" "71y" "" "" "" "" "" "" "" "" "" "" "0000029524" "01173" "00039182" "01288" "Familial, autosomal dominant" "" "" "69y" "" "" "" "" "" "" "" "" "" "" "0000029525" "01173" "00039183" "01288" "Familial, autosomal dominant" "" "" "70y" "" "" "" "" "" "" "" "" "" "" "0000029526" "01173" "00039184" "01288" "Familial, autosomal dominant" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "0000029527" "01173" "00039185" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029529" "01173" "00039187" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029533" "01173" "00039191" "01288" "Familial, autosomal dominant" "" "" "29y" "" "" "" "" "" "" "" "" "" "" "0000029534" "01173" "00039192" "01288" "Familial, autosomal dominant" "" "" "65y" "" "" "" "" "" "" "" "" "" "" "0000029535" "01173" "00039193" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "0000029536" "01173" "00039194" "01288" "Familial, autosomal dominant" "" "" "32y" "" "" "" "" "" "" "" "" "" "" "0000029537" "01173" "00039195" "01288" "Familial, autosomal dominant" "" "" "29y" "" "" "" "" "" "" "" "" "" "" "0000029538" "01173" "00039196" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "0000029539" "01173" "00039197" "01288" "Familial, autosomal dominant" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "0000029540" "01173" "00039198" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029548" "01173" "00039206" "01288" "Familial, autosomal dominant" "" "" "25y" "" "" "" "" "" "" "" "" "" "" "0000029549" "01173" "00039207" "01288" "Familial, autosomal dominant" "" "" "33y" "" "" "" "" "" "" "" "" "" "" "0000029550" "01173" "00039208" "01288" "Familial, autosomal dominant" "" "" "37y" "" "" "" "" "" "" "" "" "" "" "0000029551" "01173" "00039209" "01288" "Familial, autosomal dominant" "" "" "43y" "" "" "" "" "" "" "" "" "" "" "0000029552" "01173" "00039210" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029553" "01173" "00039211" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029562" "01173" "00039220" "01288" "Familial, autosomal dominant" "" "" "36y" "" "" "" "" "" "" "" "" "" "" "0000029563" "01173" "00039221" "01288" "Familial, autosomal dominant" "" "" "22y" "" "" "" "" "" "" "" "" "" "" "0000029566" "01173" "00039224" "01288" "Familial, autosomal dominant" "" "" "63y" "" "" "" "" "" "" "" "" "" "" "0000029572" "01173" "00039230" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029577" "01173" "00039235" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029580" "00198" "00039238" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029583" "01173" "00039241" "01288" "Familial, autosomal dominant" "" "" "35y" "" "" "" "" "" "" "" "" "" "" "0000029584" "01173" "00039242" "01288" "Familial, autosomal dominant" "" "" "29y" "" "" "" "" "" "" "" "" "" "" "0000029586" "00198" "00039244" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029588" "01173" "00039246" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029591" "00198" "00039249" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029592" "00198" "00039250" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029593" "00198" "00039251" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029594" "00198" "00039252" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029595" "00198" "00039253" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029597" "00198" "00039255" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029598" "01173" "00039256" "01288" "Familial, autosomal dominant" "" "" "22y" "" "" "" "" "" "" "" "" "" "" "0000029599" "01173" "00039257" "01288" "Familial, autosomal dominant" "" "" "21y" "" "" "" "" "" "" "" "" "" "" "0000029600" "00198" "00039258" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029602" "00198" "00039260" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029607" "00198" "00039265" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029608" "00198" "00039266" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029609" "00198" "00039267" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029611" "00198" "00039269" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029612" "00198" "00039270" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029620" "01173" "00039278" "01288" "Familial, autosomal dominant" "" "" "58y" "" "" "" "" "" "" "" "" "" "" "0000029621" "01173" "00039279" "01288" "Familial, autosomal dominant" "" "" "52y" "" "" "" "" "" "" "" "" "" "" "0000029622" "01173" "00039280" "01288" "Familial, autosomal dominant" "" "" "33y" "" "" "" "" "" "" "" "" "" "" "0000029623" "01173" "00039281" "01288" "Familial, autosomal dominant" "" "" "70y" "" "" "" "" "" "" "" "" "" "" "0000029626" "01173" "00039284" "01288" "Familial, autosomal dominant" "" "" "61y" "" "" "" "" "" "" "" "" "" "" "0000029631" "01173" "00039289" "01288" "Familial, autosomal dominant" "" "" "59y" "" "" "" "" "" "" "" "" "" "" "0000029632" "01173" "00039290" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029633" "01173" "00039291" "01288" "Familial, autosomal dominant" "" "" "38y" "" "" "" "" "" "" "" "" "" "" "0000029636" "01173" "00039294" "01288" "Familial, autosomal dominant" "" "" "35y" "" "" "" "" "" "" "" "" "" "" "0000029637" "01173" "00039295" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029638" "01173" "00039296" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029639" "01173" "00039297" "01288" "Familial, autosomal dominant" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "0000029642" "01173" "00039300" "01288" "Familial, autosomal dominant" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "0000029643" "01173" "00039301" "01288" "Familial, autosomal dominant" "" "" "38y" "" "" "" "" "" "" "" "" "" "" "0000029644" "00198" "00039302" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029646" "00198" "00039304" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029648" "01173" "00039306" "01288" "Familial, autosomal dominant" "" "" "35y" "" "" "" "" "" "" "" "" "" "" "0000029649" "00198" "00039307" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029653" "00198" "00039311" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029654" "01173" "00039312" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029655" "01173" "00039313" "01288" "Familial, autosomal dominant" "" "" "31y" "" "" "" "" "" "" "" "" "" "" "0000029656" "00198" "00039314" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029657" "01173" "00039315" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029659" "01173" "00039317" "01288" "Familial, autosomal dominant" "" "" "35y" "" "" "" "" "" "" "" "" "" "" "0000029660" "01173" "00039318" "01288" "Familial, autosomal dominant" "" "" "27y" "" "" "" "" "" "" "" "" "" "" "0000029661" "01173" "00039319" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029663" "01173" "00039321" "01288" "Familial, autosomal dominant" "" "" "27y" "" "" "" "" "" "" "" "" "" "" "0000029664" "01173" "00039322" "01288" "Familial, autosomal dominant" "" "" "30y" "" "" "" "" "" "" "" "" "" "" "0000029666" "01173" "00039324" "01288" "Familial, autosomal dominant" "" "" "53y" "" "" "" "" "" "" "" "" "" "" "0000029667" "01173" "00039325" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "0000029671" "00198" "00039329" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029672" "01173" "00039330" "01288" "Familial, autosomal dominant" "" "" "34y" "" "" "" "" "" "" "" "" "" "" "0000029673" "01173" "00039331" "01288" "Familial, autosomal dominant" "" "" "25y" "" "" "" "" "" "" "" "" "" "" "0000029675" "01173" "00039333" "01288" "Familial, autosomal dominant" "" "" "25y" "" "" "" "" "" "" "" "" "" "" "0000029676" "01173" "00039334" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029677" "01173" "00039335" "01288" "Familial, autosomal dominant" "" "" "55y" "" "" "" "" "" "" "" "" "" "" "0000029682" "01173" "00039340" "01288" "Familial, autosomal dominant" "" "" "27y" "" "" "" "" "" "" "" "" "" "" "0000029683" "01173" "00039341" "01288" "Familial, autosomal dominant" "" "" "29y" "" "" "" "" "" "" "" "" "" "" "0000029686" "00198" "00039344" "01288" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000246241" "04214" "00328014" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "multiple phenotypes" "" "0000276254" "04214" "00382405" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000283897" "04214" "00390359" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "retinal disease" "retinal disease" "" "0000287826" "04214" "00394623" "00000" "Familial, autosomal recessive" "49y" "" "" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000333607" "00381" "00444354" "00006" "Familial, autosomal recessive" "" "see paper; ..., retinal degeneration, subtle bilateral iris coloboma; severe comedogenic acne, widespread follicular keratosis" "" "" "" "" "" "" "" "" "RDCCAS" "unclear fundus changes" "" "0000333608" "00381" "00444355" "00006" "Familial, autosomal recessive" "63y" "see paper; ..., retinal degeneration, bilateral microcornea, cataract, iris/chorioretinal coloboma; patent ductus arteriosus; 55y-sister retinal dystrophy, severe acne" "" "" "" "" "" "" "" "" "RDCCAS" "retinal dystrophy" "" "0000333609" "00356" "00444356" "00006" "Familial, autosomal dominant" "" "see paper; ..., 4 anophthalmia/7 microphthalmia, 9 obligate carriers; atrial septal defect (1/11); cerebral aneurysm (1/11); 10/11 inherited from asymptomatic mother" "" "" "" "" "" "" "" "" "MCOPCB10" "anophthalmia" "" "0000333610" "00198" "00444357" "00006" "Unknown" "" "see paper; ..., bilateral anophthalmia; neurodevelopmental delay" "" "" "" "" "" "" "" "" "MCOPCB10" "anophthalmia" "" "0000333611" "00356" "00444358" "00006" "Unknown" "" "see paper; ..., unilateral microphthalmia, coloboma" "" "" "" "" "" "" "" "" "MCOPCB10" "microphthalmia" "" "0000333612" "00112" "00444359" "00006" "Familial, autosomal recessive" "49y" "see paper; ..., retinitis pigmentosa, poor vision from childhood, night blindness, restricted visual fields; severe childhood-onset acne vulgaris" "" "" "" "" "" "" "" "" "RDCCAS" "retinitis pigmentosa" "" "0000333613" "00112" "00444360" "00006" "Familial, autosomal recessive" "" "see paper; ..., early-onset atypical retinitis pigmentosa; rheumatoid arthritis, acne; heterozygous daughter bilateral microcornea, sclerocornea, corectopia, optic nerve malformations" "" "" "" "" "" "" "" "" "RDCCAS" "retinitis pigmentosa" "" "0000333614" "00381" "00444361" "00006" "Familial, autosomal recessive" "25y" "see paper; ..., retinal dystrophy; bilateral iris and retinal coloboma, unilateral microphthalmia; acne-like skin manifestations" "" "" "" "" "" "" "" "" "RDCCAS" "retinal dystrophy, ocular colobomata" "" "0000333615" "00198" "00444362" "00006" "Unknown" "<00y00m00d" "see paper; ..., 20w-bilteral fetal anophthalmia" "" "" "" "" "" "" "" "" "MCOPCB10" "anophthalmia" "" "0000333616" "00356" "00444363" "00006" "Unknown" "" "see paper; ..., bilateral microphthalmia, coloboma iris/retina" "" "" "" "" "" "" "" "" "MCOPCB10" "microphthalmia" "" "0000333625" "00402" "00444372" "00006" "Unknown" "75y" "see paper; ..., no microphthalmia; bilateral retinal coloboma" "" "" "" "" "" "" "" "" "" "coloboma" "" "0000333628" "00356" "00444375" "00006" "Familial" "" "see paper; ..., bilateral microphthalmia with retinal dysplasia; right lung lobulation delay, brachymesophalangia fifth fingers; 2nd interrupted pregnancy (19wg) for bilateral complex microphthalmia, delayed right pulmonary segmentation with only two formed lobes" "" "" "" "" "" "" "" "" "MCOPCB10" "microphthalmia" "" "0000333629" "00356" "00444376" "00006" "Familial" "" "see paper; ..., bilateral anophthalmia I; intellectual deficiency, autistic features; brother isolated unilateral iris coloboma, bilateral severe myopia" "" "" "" "" "" "" "" "" "MCOPCB10" "microphthalmia" "" "0000333630" "00356" "00444377" "00006" "Familial" "" "see paper; ..., bilateral severe microphthalmia/anophthalmia; speech delay, atrophy cerebral cortex, delayed brain myelination, corpus callosal hypoplasia, hippocampal anomaly" "" "" "" "" "" "" "" "" "MCOPCB10" "microphthalmia" "" "0000333631" "00356" "00444378" "00006" "Familial" "" "see paper; ..., bilateral microphthalmia, colobomateous cysts, microcornea; intrauterine growth retardation; recurrence of bilateral microphthalmia in twin fetuses" "" "" "" "" "" "" "" "" "MCOPCB10" "microphthalmia" "" "0000333632" "00356" "00444379" "00006" "Familial" "" "see paper; ..., unilateral iris and retinal coloboma" "" "" "" "" "" "" "" "" "MCOPCB10" "microphthalmia" "" "0000333633" "00198" "00444380" "00006" "Familial" "" "see paper; ..., bilateral anterior segment dysgenesis; symptomatic mother early cataract with bilateral posterior embryotoxon" "" "" "" "" "" "" "" "" "" "anterior segment dysgenesis" "" "0000333634" "00356" "00444381" "00006" "Familial" "" "see paper; ..., unilateral colobomatous microphthalmia; hypotonia, delayed motor skills, interventricular communication, dolichocolon, short stature" "" "" "" "" "" "" "" "" "MCOPCB10" "microphthalmia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 297 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000039066" "00038828" "1" 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"0000039476" "HSD17B1" "0000039476" "RBP4" "0000039479" "APCS" "0000039479" "AR" "0000039479" "HSD17B1" "0000039479" "RBP4" "0000039480" "APCS" "0000039480" "AR" "0000039480" "HSD17B1" "0000039480" "RBP4" "0000039482" "APCS" "0000039482" "AR" "0000039482" "HSD17B1" "0000039482" "RBP4" "0000039484" "APCS" "0000039484" "AR" "0000039484" "HSD17B1" "0000039484" "RBP4" "0000039487" "APCS" "0000039487" "HSD17B1" "0000039487" "RBP4" "0000039488" "APCS" "0000039488" "AR" "0000039488" "HSD17B1" "0000039488" "RBP4" "0000039489" "APCS" "0000039489" "AR" "0000039489" "HSD17B1" "0000039489" "RBP4" "0000039490" "APCS" "0000039490" "AR" "0000039490" "HSD17B1" "0000039490" "RBP4" "0000039491" "APCS" "0000039491" "AR" "0000039491" "HSD17B1" "0000039491" "RBP4" "0000039493" "APCS" "0000039493" "AR" "0000039493" "HSD17B1" "0000039493" "RBP4" "0000039494" "APCS" "0000039494" "AR" "0000039494" "HSD17B1" "0000039494" "RBP4" "0000039495" "APCS" "0000039495" "AR" "0000039495" "HSD17B1" "0000039495" "RBP4" "0000039496" "APCS" "0000039496" "AR" "0000039496" "HSD17B1" "0000039496" "RBP4" "0000039498" "APCS" "0000039498" "AR" "0000039498" "HSD17B1" "0000039498" "RBP4" "0000039503" "APCS" "0000039503" "AR" "0000039503" "HSD17B1" "0000039503" "RBP4" "0000039504" "APCS" "0000039504" "AR" "0000039504" "HSD17B1" "0000039504" "RBP4" "0000039505" "APCS" "0000039505" "AR" "0000039505" "HSD17B1" "0000039505" "RBP4" "0000039507" "APCS" "0000039507" "AR" "0000039507" "HSD17B1" "0000039507" "RBP4" "0000039508" "APCS" "0000039508" "AR" "0000039508" "HSD17B1" "0000039508" "RBP4" "0000039516" "APCS" "0000039516" "AR" "0000039516" "HSD17B1" "0000039516" "RBP4" "0000039517" "APCS" "0000039517" "AR" "0000039517" "HSD17B1" "0000039517" "RBP4" "0000039518" "APCS" "0000039518" "AR" "0000039518" "HSD17B1" "0000039518" "RBP4" "0000039519" "APCS" "0000039519" "AR" "0000039519" "HSD17B1" "0000039519" "RBP4" "0000039522" "APCS" "0000039522" "AR" "0000039522" "HSD17B1" "0000039522" "RBP4" "0000039527" "APCS" "0000039527" "AR" "0000039527" "HSD17B1" "0000039527" "RBP4" "0000039528" "APCS" "0000039528" "AR" "0000039528" "HSD17B1" "0000039528" "RBP4" "0000039529" "APCS" "0000039529" "AR" "0000039529" "HSD17B1" "0000039529" "RBP4" "0000039532" "APCS" "0000039532" "AR" "0000039532" "HSD17B1" "0000039532" "RBP4" "0000039533" "APCS" "0000039533" "AR" "0000039533" "HSD17B1" "0000039533" "RBP4" "0000039534" "APCS" "0000039534" "AR" "0000039534" "HSD17B1" "0000039534" "RBP4" "0000039535" "APCS" "0000039535" "AR" "0000039535" "HSD17B1" "0000039535" "RBP4" "0000039538" "APCS" "0000039538" "AR" "0000039538" "HSD17B1" "0000039538" "RBP4" "0000039539" "APCS" "0000039539" "AR" "0000039539" "HSD17B1" "0000039539" "RBP4" "0000039540" "APCS" "0000039540" "AR" "0000039540" "HSD17B1" "0000039540" "RBP4" "0000039542" "APCS" "0000039542" "AR" "0000039542" "HSD17B1" "0000039542" "RBP4" "0000039544" "APCS" "0000039544" "AR" "0000039544" "HSD17B1" "0000039544" "RBP4" "0000039545" "APCS" "0000039545" "AR" "0000039545" "HSD17B1" "0000039545" "RBP4" "0000039549" "APCS" "0000039549" "AR" "0000039549" "HSD17B1" "0000039549" "RBP4" "0000039550" "APCS" "0000039550" "AR" "0000039550" "HSD17B1" "0000039550" "RBP4" "0000039551" "APCS" "0000039551" "AR" "0000039551" "HSD17B1" "0000039551" "RBP4" "0000039552" "APCS" "0000039552" "HSD17B1" "0000039552" "RBP4" "0000039553" "APCS" "0000039553" "AR" "0000039553" "HSD17B1" "0000039553" "RBP4" "0000039555" "APCS" "0000039555" "AR" "0000039555" "HSD17B1" "0000039555" "RBP4" "0000039556" "APCS" "0000039556" "AR" "0000039556" "HSD17B1" "0000039556" "RBP4" "0000039557" "APCS" "0000039557" "AR" "0000039557" "HSD17B1" "0000039557" "RBP4" "0000039559" "APCS" "0000039559" "AR" "0000039559" "HSD17B1" "0000039559" "RBP4" "0000039560" "APCS" "0000039560" "AR" "0000039560" "HSD17B1" "0000039560" "RBP4" "0000039562" "APCS" "0000039562" "AR" "0000039562" "HSD17B1" "0000039562" "RBP4" "0000039563" "APCS" "0000039563" "AR" "0000039563" "HSD17B1" "0000039563" "RBP4" "0000039567" "APCS" "0000039567" "AR" "0000039567" "HSD17B1" "0000039567" "RBP4" "0000039568" "APCS" "0000039568" "AR" "0000039568" "HSD17B1" "0000039568" "RBP4" "0000039569" "APCS" "0000039569" "AR" "0000039569" "HSD17B1" "0000039569" "RBP4" "0000039571" "APCS" "0000039571" "AR" "0000039571" "HSD17B1" "0000039571" "RBP4" "0000039572" "APCS" "0000039572" "AR" "0000039572" "HSD17B1" "0000039572" "RBP4" "0000039573" "APCS" "0000039573" "AR" "0000039573" "HSD17B1" "0000039573" "RBP4" "0000039578" "APCS" "0000039578" "AR" "0000039578" "HSD17B1" "0000039578" "RBP4" "0000039579" "APCS" "0000039579" "AR" "0000039579" "HSD17B1" "0000039579" "RBP4" "0000039582" "APCS" "0000039582" "AR" "0000039582" "HSD17B1" "0000039582" "RBP4" "0000329229" "RBP4" "0000383619" "RBP4" "0000391600" "RBP4" "0000395870" "RBP4" "0000445922" "RBP4" "0000445924" "RBP4" "0000445925" "RBP4" "0000445926" "RBP4" "0000445928" "RBP4" ## 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 = 46 "{{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}}" "0000067146" "0" "55" "10" "95353312" "95353312" "subst" "0" "01288" "RBP4_000001" "g.95353312A>G" "" "" "" "" "" "Germline" "" "rs17484721" "0" "" "" "g.93593555A>G" "" "VUS" "" "0000067147" "0" "55" "10" "95355398" "95355398" "subst" "0" "01288" "RBP4_000002" "g.95355398G>A" "" "" "" "" "" "Germline" "" "rs7091052" "0" "" "" "g.93595641G>A" "" "VUS" "" "0000067148" "0" "55" "10" "95355617" "95355617" "subst" "0" "01288" "RBP4_000003" "g.95355617G>A" "" "" "" "" "" "Germline" "" "rs7094671" "0" "" "" "g.93595860G>A" "" "VUS" "" "0000067149" "0" "55" "10" "95357105" "95357105" "subst" "0" "01288" "RBP4_000004" "g.95357105A>G" "" "" "" "" "" "Germline" "" "rs11187545" "0" "" "" "g.93597348A>G" "" "VUS" "" "0000067150" "0" "55" "10" "95358453" "95358453" "subst" "0" "01288" "RBP4_000005" "g.95358453T>C" "" "" "" "" "" "Germline" "" "rs28383574" "0" "" "" "g.93598696T>C" "" "VUS" "" "0000067151" "0" "55" "10" "95361588" "95361588" "subst" "0" "01288" "RBP4_000006" "g.95361588C>T" "" "" "" "" "" "Germline" "" "rs3758539" "0" "" "" "g.93601831C>T" "" "VUS" "" "0000067169" "3" "55" "10" "95353312" "95353312" "subst" "0" "01288" "RBP4_000001" "g.95353312A>G" "" "" "" "" "" "Germline" "" "rs17484721" "0" "" "" "g.93593555A>G" "" "VUS" "" "0000067170" "3" "55" "10" "95355398" "95355398" "subst" "0" "01288" "RBP4_000002" "g.95355398G>A" "" "" "" "" "" "Germline" "" "rs7091052" "0" "" "" "g.93595641G>A" "" "VUS" "" "0000067171" "3" "55" "10" "95355617" "95355617" "subst" "0" "01288" "RBP4_000003" "g.95355617G>A" "" "" "" "" "" "Germline" "" "rs7094671" "0" "" "" "g.93595860G>A" "" "VUS" "" "0000067172" "3" "55" "10" "95357105" "95357105" "subst" "0" "01288" "RBP4_000004" "g.95357105A>G" "" "" "" "" "" "Germline" "" "rs11187545" "0" "" "" "g.93597348A>G" "" "VUS" "" "0000067173" "3" "55" "10" "95358453" "95358453" "subst" "0" "01288" "RBP4_000005" "g.95358453T>C" "" "" "" "" "" "Germline" "" "rs28383574" "0" "" "" "g.93598696T>C" "" "VUS" "" "0000067174" "3" "55" "10" "95361588" "95361588" "subst" "0" "01288" "RBP4_000006" "g.95361588C>T" "" "" "" "" "" "Germline" "" "rs3758539" "0" "" "" "g.93601831C>T" "" "VUS" "" "0000294769" "0" "10" "10" "95360736" "95360736" "subst" "0" "02330" "RBP4_000008" "g.95360736C>A" "" "" "" "RBP4(NM_006744.4):c.50G>T (p.R17L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93600979C>A" "" "benign" "" "0000306888" "0" "50" "10" "95353604" "95353604" "subst" "0.000590184" "01943" "RBP4_000007" "g.95353604G>T" "" "" "" "RBP4(NM_006744.3):c.544C>A (p.Q182K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93593847G>T" "" "VUS" "" "0000541654" "0" "10" "10" "95353668" "95353668" "subst" "8.53471E-5" "02330" "RBP4_000009" "g.95353668G>A" "" "" "" "RBP4(NM_006744.4):c.480C>T (p.N160=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93593911G>A" "" "benign" "" "0000541655" "0" "30" "10" "95353677" "95353677" "subst" "2.84479E-5" "01943" "RBP4_000010" "g.95353677C>T" "" "" "" "RBP4(NM_006744.3):c.471G>A (p.R157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93593920C>T" "" "likely benign" "" "0000541656" "0" "30" "10" "95360172" "95360172" "subst" "0.0002031" "01943" "RBP4_000011" "g.95360172T>C" "" "" "" "RBP4(NM_001323517.1):c.333A>G (p.V111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93600415T>C" "" "likely benign" "" "0000622464" "0" "50" "10" "95360500" "95360500" "subst" "0" "01943" "RBP4_000012" "g.95360500T>C" "" "" "" "RBP4(NM_001323517.1):c.172A>G (p.N58D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93600743T>C" "" "VUS" "" "0000656604" "0" "10" "10" "95360792" "95360792" "del" "0" "02330" "RBP4_000013" "g.95360792del" "" "" "" "RBP4(NM_001323517.1):c.-5delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93601035del" "" "benign" "" "0000713352" "3" "90" "10" "95360423" "95360423" "subst" "0" "00000" "RBP4_000014" "g.95360423C>T" "" "{PMID:Carss 2017:28041643}" "" "10:95360423C>T ENST00000371467.1:c.248+1G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000797800" "0" "70" "10" "95360719" "95360719" "subst" "0" "00000" "RBP4_000015" "g.95360719G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "RP1 c.2690_2695del, p.(Ser897*), RBP4 c.67C>T, p.(Arg23*)" "" "Germline" "?" "" "0" "" "" "g.93600962G>A" "" "likely pathogenic" "ACMG" "0000804638" "0" "50" "10" "95360433" "95360433" "subst" "0" "01943" "RBP4_000016" "g.95360433C>G" "" "" "" "RBP4(NM_001323517.1):c.239G>C (p.R80P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000821349" "3" "70" "10" "95360423" "95360423" "subst" "0" "00000" "RBP4_000014" "g.95360423C>T" "" "{PMID:Turro 2020:32581362}" "" "RBP4 c.248+1G>A," "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.93600666C>T" "" "likely pathogenic" "" "0000827317" "3" "70" "10" "95353689" "95353691" "del" "0" "00000" "RBP4_000017" "g.95353689_95353691del" "" "{PMID:Colombo-2020:33576794}" "" "RBP4:c.457_459del" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000862087" "0" "30" "10" "95360792" "95360792" "subst" "0" "02330" "RBP4_000018" "g.95360792C>G" "" "" "" "RBP4(NM_001323517.1):c.-7G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889330" "0" "30" "10" "95361426" "95361426" "subst" "0.000667991" "02330" "RBP4_000019" "g.95361426C>T" "" "" "" "RBP4(NM_001323518.2):c.48G>A (p.T16=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925232" "0" "70" "10" "95353609" "95353628" "del" "0" "02329" "RBP4_000020" "g.95353609_95353628del" "" "" "" "RBP4(NM_006744.4):c.524_543delAGGAGCTGTGCCTGGCCAGG (p.E175Afs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000954130" "21" "90" "10" "95360496" "95360496" "subst" "0" "00006" "RBP4_000021" "g.95360496A>T" "" "{PMID:Seeliger 1999:9888420}" "" "Ile41Asn" "" "Germline" "yes" "" "0" "" "" "g.93600739A>T" "" "pathogenic (recessive)" "" "0000954131" "10" "90" "10" "95360227" "95360227" "subst" "0" "00006" "RBP4_000022" "g.95360227C>T" "" "{PMID:Seeliger 1999:9888420}" "" "GIy75Asp" "father not available" "Germline" "yes" "" "0" "" "" "g.93600470C>T" "" "pathogenic (recessive)" "" "0000954132" "3" "90" "10" "95360674" "95360674" "subst" "0" "00006" "RBP4_000023" "g.95360674C>T" "" "{PMID:Cukras 2012:23189188}" "" "" "insertion intron predicted from larger protein band on WB (reduced expression)" "Germline" "yes" "" "0" "" "" "g.93600917C>T" "" "pathogenic (recessive)" "" "0000954133" "1" "90" "10" "95360449" "95360449" "subst" "0" "00006" "RBP4_000024" "g.95360449C>T" "" "{PMID:Chou 2015:25910211}" "" "" "10/11 inherited from asymptomatic mother, reduced penetrance" "Germline" "yes" "" "0" "" "" "g.93600692C>T" "" "likely pathogenic (!)" "" "0000954134" "21" "90" "10" "95360455" "95360455" "subst" "0" "00006" "RBP4_000025" "g.95360455C>T" "" "{PMID:Chou 2015:25910211}" "" "" "" "Germline" "" "" "0" "" "" "g.93600698C>T" "" "likely pathogenic" "" "0000954135" "21" "90" "10" "95360455" "95360455" "subst" "0" "00006" "RBP4_000025" "g.95360455C>T" "" "{PMID:Chou 2015:25910211}" "" "" "" "Germline" "" "" "0" "" "" "g.93600698C>T" "" "likely pathogenic" "" "0000954136" "3" "90" "10" "95360719" "95360719" "subst" "0" "00006" "RBP4_000015" "g.95360719G>A" "" "{PMID:Cehajic-Kapetanovic 2020:32323592}" "" "" "" "Germline" "yes" "" "0" "" "" "g.93600962G>A" "" "pathogenic (recessive)" "" "0000954137" "3" "90" "10" "95360562" "95360562" "subst" "0" "00006" "RBP4_000026" "g.95360562T>C" "" "{PMID:Kessel 2022:36317196}" "" "" "ACMG PVS1, PM2_sup, PM3_sup" "Germline" "yes" "" "0" "" "" "g.93600805T>C" "" "pathogenic (recessive)" "ACMG" "0000954138" "3" "90" "10" "95360423" "95360423" "subst" "0" "00006" "RBP4_000014" "g.95360423C>T" "" "{PMID:Khan 2017:27892788}" "" "" "" "Germline" "" "" "0" "" "" "g.93600666C>T" "" "pathogenic (recessive)" "" "0000954139" "21" "90" "10" "95360455" "95360455" "subst" "0" "00006" "RBP4_000025" "g.95360455C>T" "" "{PMID:Kaur 2023:36342076}" "" "" "maternal transmission" "Germline" "" "" "0" "" "" "g.93600698C>T" "" "pathogenic (maternal)" "" "0000954140" "0" "90" "10" "95353754" "95353754" "subst" "0" "00006" "RBP4_000027" "g.95353754A>T" "" "{PMID:Riera 2017:29178648}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93593997A>T" "" "pathogenic (dominant)" "" "0000954149" "0" "70" "10" "95351870" "95351870" "subst" "0" "00006" "RBP4_000028" "g.95351870C>T" "" "{PMID:Aubert-Mucca 2021:32737437}" "" "" "ACMG PVS1, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.93592113C>T" "SCV001364582" "likely pathogenic (dominant)" "ACMG" "0000954152" "21" "90" "10" "95360455" "95360455" "subst" "0" "00006" "RBP4_000025" "g.95360455C>T" "" "{PMID:Plaisancie 2023:37586836}" "" "" "" "Germline" "" "" "0" "" "" "g.93600698C>T" "" "pathogenic (!)" "" "0000954153" "21" "70" "10" "95360454" "95360454" "subst" "0" "00006" "RBP4_000033" "g.95360454G>A" "" "{PMID:Plaisancie 2023:37586836}" "" "" "" "Germline" "" "" "0" "" "" "g.93600697G>A" "" "likely pathogenic (!)" "" "0000954154" "21" "70" "10" "95360234" "95360234" "subst" "0" "00006" "RBP4_000032" "g.95360234T>C" "" "{PMID:Plaisancie 2023:37586836}" "" "" "" "Germline" "" "" "0" "" "" "g.93600477T>C" "" "likely pathogenic (!)" "" "0000954155" "21" "70" "10" "95353790" "95353790" "subst" "0" "00006" "RBP4_000030" "g.95353790C>A" "" "{PMID:Plaisancie 2023:37586836}" "" "" "" "Germline" "" "" "0" "" "" "g.93594033C>A" "" "likely pathogenic (!)" "" "0000954156" "0" "70" "10" "95353790" "95353790" "subst" "0" "00006" "RBP4_000031" "g.95353790C>G" "" "{PMID:Plaisancie 2023:37586836}" "" "" "" "Germline" "" "" "0" "" "" "g.93594033C>G" "" "likely pathogenic" "" "0000954157" "21" "70" "10" "95353765" "95353765" "subst" "0" "00006" "RBP4_000029" "g.95353765T>C" "" "{PMID:Plaisancie 2023:37586836}" "" "" "" "Germline" "" "" "0" "" "" "g.93594008T>C" "" "likely pathogenic (!)" "" "0000954158" "21" "70" "10" "95353754" "95353754" "subst" "0" "00006" "RBP4_000027" "g.95353754A>T" "" "{PMID:Plaisancie 2023:37586836}" "" "" "" "Germline" "" "" "0" "" "" "g.93593997A>T" "" "likely pathogenic (!)" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes RBP4 ## Count = 46 "{{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}}" "0000067146" "00017560" "55" "568" "268" "568" "268" "c.568+268T>C" "r.(=)" "p.(=)" "5i" "0000067147" "00017560" "55" "356" "-1606" "356" "-1606" "c.356-1606C>T" "r.(=)" "p.(=)" "4i" "0000067148" "00017560" "55" "356" "-1825" "356" "-1825" "c.356-1825C>T" "r.(=)" "p.(=)" "4i" "0000067149" "00017560" "55" "355" "3045" "355" "3045" "c.355+3045T>C" "r.(=)" "p.(=)" "4i" "0000067150" "00017560" "55" "355" "1697" "355" "1697" "c.355+1697A>G" "r.(=)" "p.(=)" "4i" "0000067151" "00017560" "55" "-679" "0" "-679" "0" "c.-679G>A" "r.(=)" "p.(=)" "1" "0000067169" "00017560" "55" "568" "268" "568" "268" "c.568+268T>C" "r.(=)" "p.(=)" "5i" "0000067170" "00017560" "55" "356" "-1606" "356" "-1606" "c.356-1606C>T" "r.(=)" "p.(=)" "4i" "0000067171" "00017560" "55" "356" "-1825" "356" "-1825" "c.356-1825C>T" "r.(=)" "p.(=)" "4i" "0000067172" "00017560" "55" "355" "3045" "355" "3045" "c.355+3045T>C" "r.(=)" "p.(=)" "4i" "0000067173" "00017560" "55" "355" "1697" "355" "1697" "c.355+1697A>G" "r.(=)" "p.(=)" "4i" "0000067174" "00017560" "55" "-679" "0" "-679" "0" "c.-679G>A" "r.(=)" "p.(=)" "1" "0000294769" "00017560" "10" "50" "0" "50" "0" "c.50G>T" "r.(?)" "p.(Arg17Leu)" "" "0000306888" "00017560" "50" "544" "0" "544" "0" "c.544C>A" "r.(?)" "p.(Gln182Lys)" "" "0000541654" "00017560" "10" "480" "0" "480" "0" "c.480C>T" "r.(?)" "p.(Asn160=)" "" "0000541655" "00017560" "30" "471" "0" "471" "0" "c.471G>A" "r.(?)" "p.(Arg157=)" "" "0000541656" "00017560" "30" "333" "0" "333" "0" "c.333A>G" "r.(?)" "p.(Val111=)" "" "0000622464" "00017560" "50" "172" "0" "172" "0" "c.172A>G" "r.(?)" "p.(Asn58Asp)" "" "0000656604" "00017560" "10" "-5" "0" "-5" "0" "c.-5del" "r.(?)" "p.(=)" "" "0000713352" "00017560" "90" "248" "1" "248" "1" "c.248+1G>A" "r.spl?" "p.?" "" "0000797800" "00017560" "70" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "" "0000804638" "00017560" "50" "239" "0" "239" "0" "c.239G>C" "r.(?)" "p.(Arg80Pro)" "" "0000821349" "00017560" "70" "248" "1" "248" "1" "c.248+1G>A" "r.spl" "p.(?)" "" "0000827317" "00017560" "70" "457" "0" "459" "0" "c.457_459del" "r.(?)" "p.(Ala153del)" "4" "0000862087" "00017560" "30" "-7" "0" "-7" "0" "c.-7G>C" "r.(?)" "p.(=)" "" "0000889330" "00017560" "30" "-517" "0" "-517" "0" "c.-517G>A" "r.(?)" "p.(=)" "" "0000925232" "00017560" "70" "524" "0" "543" "0" "c.524_543del" "r.(?)" "p.(Glu175Alafs*27)" "" "0000954130" "00017560" "90" "176" "0" "176" "0" "c.176T>A" "r.(?)" "p.(Ile59Asn)" "" "0000954131" "00017560" "90" "278" "0" "278" "0" "c.278G>A" "r.(?)" "p.(Gly93Asp)" "" "0000954132" "00017560" "90" "111" "1" "111" "1" "c.111+1G>A" "r.(111_112ins[a;111+1_112-1])" "p.(Arg37_Phe38insX[38])" "2i" "0000954133" "00017560" "90" "223" "0" "223" "0" "c.223G>A" "r.(?)" "p.(Ala75Thr)" "" "0000954134" "00017560" "90" "217" "0" "217" "0" "c.217G>A" "r.(?)" "p.(Ala73Thr)" "" "0000954135" "00017560" "90" "217" "0" "217" "0" "c.217G>A" "r.(?)" "p.(Ala73Thr)" "" "0000954136" "00017560" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "" "0000954137" "00017560" "90" "112" "-2" "112" "-2" "c.112-2A>G" "r.spl" "p.?" "2i" "0000954138" "00017560" "90" "248" "1" "248" "1" "c.248+1G>A" "r.spl" "p.?" "3i" "0000954139" "00017560" "90" "217" "0" "217" "0" "c.217G>A" "r.(?)" "p.(Ala73Thr)" "" "0000954140" "00017560" "90" "394" "0" "394" "0" "c.394T>A" "r.(?)" "p.(Tyr132Asn)" "" "0000954149" "00017560" "70" "569" "-1" "569" "-1" "c.569-1G>A" "r.spl" "p.?" "" "0000954152" "00017560" "90" "217" "0" "217" "0" "c.217G>A" "r.(?)" "p.(Ala73Thr)" "" "0000954153" "00017560" "70" "218" "0" "218" "0" "c.218C>T" "r.(?)" "p.(Ala73Val)" "" "0000954154" "00017560" "70" "271" "0" "271" "0" "c.271A>G" "r.(?)" "p.(Met91Val)" "" "0000954155" "00017560" "70" "358" "0" "358" "0" "c.358G>T" "r.(?)" "p.(Asp120Tyr)" "" "0000954156" "00017560" "70" "358" "0" "358" "0" "c.358G>C" "r.(?)" "p.(Asp120His)" "" "0000954157" "00017560" "70" "383" "0" "383" "0" "c.383A>G" "r.(?)" "p.(Asp128Gly)" "" "0000954158" "00017560" "70" "394" "0" "394" "0" "c.394T>A" "r.(?)" "p.(Tyr132Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1086 "{{screeningid}}" "{{variantid}}" "0000039066" "0000067146" "0000039066" "0000067147" "0000039066" "0000067149" "0000039066" "0000067150" "0000039066" "0000067151" "0000039066" "0000067171" "0000039067" "0000067148" "0000039067" "0000067149" "0000039070" "0000067148" "0000039070" "0000067149" "0000039071" "0000067146" "0000039071" "0000067147" "0000039071" "0000067148" "0000039071" "0000067150" "0000039071" "0000067151" "0000039074" "0000067146" "0000039074" "0000067147" "0000039074" "0000067148" "0000039074" "0000067150" "0000039074" "0000067151" "0000039075" "0000067146" "0000039075" "0000067147" "0000039075" "0000067148" "0000039075" "0000067151" "0000039078" "0000067146" "0000039078" "0000067147" "0000039078" "0000067148" "0000039078" "0000067150" "0000039078" "0000067151" "0000039079" "0000067146" "0000039079" "0000067147" "0000039079" "0000067148" "0000039079" "0000067150" "0000039079" "0000067151" "0000039080" "0000067146" "0000039080" "0000067147" "0000039080" "0000067148" "0000039080" "0000067151" "0000039081" "0000067146" "0000039081" "0000067147" "0000039081" "0000067148" "0000039081" "0000067151" "0000039083" "0000067146" "0000039083" "0000067147" "0000039083" "0000067148" "0000039083" "0000067151" "0000039086" "0000067148" "0000039086" "0000067149" "0000039087" "0000067148" "0000039089" "0000067146" "0000039089" "0000067147" "0000039089" "0000067148" "0000039089" "0000067151" "0000039090" "0000067146" "0000039090" "0000067147" "0000039090" "0000067148" "0000039090" "0000067151" "0000039091" "0000067170" "0000039093" "0000067146" "0000039093" "0000067147" "0000039093" "0000067148" "0000039093" "0000067150" "0000039093" "0000067151" "0000039095" "0000067146" "0000039095" "0000067147" "0000039095" "0000067148" "0000039095" "0000067151" "0000039101" "0000067146" "0000039101" "0000067147" "0000039101" "0000067148" "0000039101" "0000067150" "0000039101" "0000067151" "0000039103" "0000067146" "0000039103" "0000067147" "0000039103" "0000067148" "0000039103" "0000067151" "0000039107" "0000067146" "0000039107" "0000067147" "0000039107" "0000067148" "0000039107" "0000067150" "0000039107" "0000067151" "0000039111" "0000067146" "0000039111" "0000067147" "0000039111" "0000067148" "0000039111" "0000067150" "0000039111" "0000067151" "0000039112" "0000067146" "0000039112" "0000067147" "0000039112" "0000067148" "0000039112" "0000067151" "0000039113" "0000067146" "0000039113" "0000067147" "0000039113" "0000067148" "0000039113" "0000067151" "0000039114" "0000067146" "0000039114" "0000067147" "0000039114" "0000067148" "0000039114" "0000067150" "0000039114" "0000067151" "0000039118" "0000067146" "0000039118" "0000067147" "0000039118" "0000067148" "0000039118" "0000067150" "0000039119" "0000067146" "0000039119" "0000067147" "0000039119" "0000067148" "0000039119" "0000067151" "0000039120" "0000067146" "0000039120" "0000067147" "0000039120" "0000067148" "0000039120" "0000067151" "0000039122" "0000067146" "0000039122" "0000067147" "0000039122" "0000067148" "0000039122" "0000067150" "0000039122" "0000067151" "0000039127" "0000067146" "0000039127" "0000067147" "0000039127" "0000067148" "0000039127" "0000067151" "0000039129" "0000067146" "0000039129" "0000067147" "0000039129" "0000067148" "0000039129" "0000067150" "0000039129" "0000067151" "0000039130" "0000067148" "0000039130" "0000067149" "0000039131" "0000067148" "0000039131" "0000067149" "0000039135" "0000067150" "0000039135" "0000067169" "0000039135" "0000067170" "0000039135" "0000067171" "0000039135" "0000067174" "0000039137" "0000067149" "0000039139" "0000067148" "0000039140" "0000067146" "0000039140" "0000067147" "0000039140" "0000067148" "0000039140" "0000067151" "0000039144" "0000067148" "0000039144" "0000067149" "0000039152" "0000067146" "0000039152" "0000067147" "0000039152" "0000067148" "0000039152" "0000067150" "0000039152" "0000067151" "0000039153" "0000067150" "0000039153" "0000067151" "0000039154" "0000067146" "0000039154" "0000067147" "0000039154" "0000067148" "0000039154" "0000067173" "0000039154" "0000067174" "0000039155" "0000067146" "0000039155" "0000067147" "0000039155" "0000067148" "0000039155" "0000067150" "0000039155" "0000067151" "0000039156" "0000067148" "0000039157" "0000067146" "0000039157" "0000067147" "0000039157" "0000067150" "0000039157" "0000067151" "0000039157" "0000067171" "0000039158" "0000067146" "0000039158" "0000067147" "0000039158" "0000067148" "0000039158" "0000067150" "0000039158" "0000067151" "0000039159" "0000067147" "0000039159" "0000067148" "0000039161" "0000067146" "0000039161" "0000067150" "0000039161" "0000067151" "0000039161" "0000067170" "0000039161" "0000067171" "0000039162" "0000067146" "0000039162" "0000067147" "0000039162" "0000067148" "0000039162" "0000067150" "0000039162" "0000067151" "0000039163" "0000067146" "0000039163" "0000067147" "0000039163" "0000067148" "0000039163" "0000067150" "0000039163" "0000067151" "0000039164" "0000067150" "0000039164" "0000067151" "0000039166" "0000067146" "0000039166" "0000067147" "0000039166" "0000067148" "0000039166" "0000067150" "0000039166" "0000067151" "0000039167" "0000067146" "0000039167" "0000067147" "0000039167" "0000067148" "0000039167" "0000067151" "0000039168" "0000067148" "0000039168" "0000067149" "0000039169" "0000067146" "0000039169" "0000067147" "0000039169" "0000067149" "0000039169" "0000067151" "0000039169" "0000067171" "0000039170" "0000067146" "0000039170" "0000067147" "0000039170" "0000067148" "0000039170" "0000067151" "0000039172" "0000067146" "0000039172" "0000067147" "0000039172" "0000067148" "0000039172" "0000067151" "0000039173" "0000067169" "0000039173" "0000067170" "0000039173" "0000067171" "0000039173" "0000067174" "0000039174" "0000067146" "0000039174" "0000067147" "0000039174" "0000067148" "0000039174" "0000067151" "0000039176" "0000067146" "0000039176" "0000067147" "0000039176" "0000067148" "0000039176" "0000067151" "0000039178" 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