### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ELOVL4) # 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}}" "ELOVL4" "ELOVL fatty acid elongase 4" "6" "q14" "unknown" "NG_009108.2" "UD_132085268365" "" "https://www.LOVD.nl/ELOVL4" "" "1" "14415" "6785" "605512" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/ELOVL4_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-02-13 00:00:00" "00006" "2020-11-13 14:31:09" "00000" "2024-10-29 21:08:56" ## 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}}" "00007050" "ELOVL4" "ELOVL fatty acid elongase 4" "001" "NM_022726.3" "" "NP_073563.1" "" "" "" "-319" "2741" "945" "80657315" "80624529" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{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" "" "" "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" "01094" "STGD3" "Macular dystrophy, autosomal dominant, chromosome 6-linked (Stargardt disease, type 3 (STGD-3))" "AD" "600110" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01095" "ISQMR" "Ichthyosis, spastic quadriplegia, and mental retardation" "AR" "614457" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01323" "SCA34" "Spinocerebellar ataxia 34" "AD" "133190" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04215" "STGD" "Stargardt disease (STGD)" "" "" "" "" "" "00006" "2015-02-27 20:01:12" "" "" "04249" "macular dystrophy" "dystrophy, macular" "" "" "" "" "" "00006" "2015-05-04 22:10:58" "00006" "2024-02-15 21:18:39" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "ELOVL4" "00139" "ELOVL4" "01094" "ELOVL4" "01095" "ELOVL4" "01323" ## Individuals ## Do not remove or alter this header ## ## Count = 82 "{{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}}" "00033089" "" "" "" "2" "" "00229" "{PMID:Van Huet 2014:24876279}, {PMID:Neveling 2012:22334370}" "2-generation family, 2 affected (F, M)" "F;M" "yes" "" "" "0" "" "" "" "FamG" "00033114" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" "" "00033166" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" "" "00300619" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00333656" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "639" "00333729" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "910" "00333730" "" "" "" "69" "" "00000" "{PMID:Stone 2017:28559085}" "family, 69 affected" "F" "" "(United States)" "" "0" "" "" "" "911" "00358981" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case71718" "00362000" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat3AB" "00375659" "" "" "" "1" "" "00006" "{PMID:Srivastava 2014:25131622}" "" "" "" "United States" "" "0" "" "" "" "Pat60" "00380097" "" "" "" "1" "" "00000" "{PMID:Kersten 2018:30215852}" "" "F" "" "" "" "0" "" "" "" "?" "00380337" "" "" "" "1" "" "00000" "{PMID:Strom-2012 :22863181}" "" "M" "" "United States" "" "0" "" "" "" "" "00380341" "" "" "" "1" "" "00000" "{PMID:Yi-2012:22948568}" "" "" "" "China" "" "0" "" "" "" "" "00380342" "" "" "" "1" "" "00000" "{PMID:Yi-2012:22948568}" "" "" "" "China" "" "0" "" "" "" "" "00380343" "" "" "" "1" "" "00000" "{PMID:Yi-2012:22948568}" "" "" "" "China" "" "0" "" "" "" "" "00382351" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "180" "00387590" "" "" "" "2" "" "00000" "{PMID:Palejwala 2016:26110599}" "" "F" "" "" "" "0" "" "" "" "" "00387591" "" "" "" "1" "" "00000" "{PMID:Palejwala 2016:26110599}" "the first cousin of V1D and V1C," "F" "" "" "" "0" "" "" "" "" "00390023" "" "" "" "1" "" "03840" "{PMID:Hu 2020:32534057}" "" "M" "?" "China" "" "0" "" "" "" "Sporadic case 2" "00390770" "" "" "" "1" "" "00000" "{PMID:Booij-2011:20801516}" "" "" "" "" "" "0" "" "" "" "" "00390892" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "F" "" "Switzerland" "" "0" "" "" "" "" "00390910" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00390919" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00390943" "" "" "" "1" "" "00000" "{PMID:Maggi_2021:33546218}" "" "M" "" "Switzerland" "" "0" "" "" "" "" "00395221" "" "" "" "1" "" "00000" "{PMID:Buhler 2021:34073554}" "Family 12, individual II.2" "?" "" "Switzerland" "" "0" "" "" "" "12/II.2" "00395222" "" "" "" "1" "" "00000" "{PMID:Buhler 2021:34073554}" "Family 13, individual II.1" "?" "" "Switzerland" "" "0" "" "" "" "13/II.1" "00395223" "" "" "" "1" "" "00000" "{PMID:Buhler 2021:34073554}" "Family 13, individual III.2" "?" "" "Switzerland" "" "0" "" "" "" "13/III.2" "00395224" "" "" "" "1" "" "00000" "{PMID:Buhler 2021:34073554}" "Family 13, individual III.1" "?" "" "Switzerland" "" "0" "" "" "" "13/III.1" "00395225" "" "" "" "1" "" "00000" "{PMID:Buhler 2021:34073554}" "Family 13, individual I.1" "?" "" "Switzerland" "" "0" "" "" "" "13/I.1" "00395226" "" "" "" "1" "" "00000" "{PMID:Buhler 2021:34073554}" "Family 14, individual II.4" "?" "" "Switzerland" "" "0" "" "" "" "14/II.4" "00395227" "" "" "" "1" "" "00000" "{PMID:Buhler 2021:34073554}" "Family 15, individual II.3" "?" "" "Switzerland" "" "0" "" "" "" "15/II.3" "00395228" "" "" "" "1" "" "00000" "{PMID:Buhler 2021:34073554}" "Family 16, individual III.2" "?" "" "Switzerland" "" "0" "" "" "" "16/III.2" "00395883" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F088" "00396481" "" "" "" "1" "" "00000" "{PMID:Dockery 2017:29099798}" "no patient numbers in the paper, consecutive numbers given" "?" "" "Ireland" "" "0" "" "" "" "14" "00419221" "" "" "" "1" "" "00000" "{PMID:Bardak 2016:27813578}" "multiple indiviuals, homo- and heterozygous" "" "" "" "" "0" "" "" "" "?" "00419222" "" "" "" "1" "" "00000" "{PMID:Bardak 2016:27813578}" "multiple indiviuals, homo- and heterozygous" "" "" "" "" "0" "" "" "" "?" "00420447" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F088" "00426658" "" "" "" "1" "" "00000" "{PMID:Zhang 2001:11138005}" "" "" "" "" "" "0" "" "" "European" "" "00426659" "" "" "" "1" "" "00000" "{PMID:Zhang 2001:11138005}" "" "" "" "" "" "0" "" "" "European" "" "00426660" "" "" "" "1" "" "00000" "{PMID:Zhang 2001:11138005}" "" "" "" "" "" "0" "" "" "European" "" "00426661" "" "" "" "1" "" "00000" "{PMID:Zhang 2001:11138005}" "" "" "" "" "" "0" "" "" "Canadian" "" "00426662" "" "" "" "1" "" "00000" "{PMID:Zhang 2001:11138005}" "" "" "" "" "" "0" "" "" "European" "" "00426663" "" "" "" "1" "" "00000" "{PMID:Bernstein 2001:11726641}" "" "" "" "United States" "" "0" "" "" "" "II-8" "00426664" "" "" "" "1" "" "00000" "{PMID:Bernstein 2001:11726641}" "" "" "" "United States" "" "0" "" "" "" "III-1" "00426665" "" "" "" "1" "" "00000" "{PMID:Bernstein 2001:11726641}" "" "" "" "United States" "" "0" "" "" "" "III-2" "00426666" "" "" "" "1" "" "00000" "{PMID:Bernstein 2001:11726641}" "" "" "" "United States" "" "0" "" "" "" "III-3" "00426667" "" "" "" "1" "" "00000" "{PMID:Bernstein 2001:11726641}" "" "" "" "United States" "" "0" "" "" "" "III-5" "00426668" "" "" "" "1" "" "00000" "{PMID:Bernstein 2001:11726641}" "" "" "" "United States" "" "0" "" "" "" "III-7" "00426669" "" "" "" "1" "" "00000" "{PMID:Bernstein 2001:11726641}" "" "" "" "United States" "" "0" "" "" "" "III-8" "00426670" "" "" "" "1" "" "00000" "{PMID:Bernstein 2001:11726641}" "" "" "" "United States" "" "0" "" "" "" "III-9" "00426671" "" "" "" "1" "" "00000" "{PMID:Bernstein 2001:11726641}" "" "" "" "United States" "" "0" "" "" "" "III-11" "00426672" "" "" "" "1" "" "00000" "{PMID:Bernstein 2001:11726641}" "" "" "" "United States" "" "0" "" "" "" "IV-1" "00426673" "" "" "" "1" "" "00000" "{PMID:Bernstein 2001:11726641}" "" "" "" "United States" "" "0" "" "" "" "IV-2" "00426674" "" "" "" "1" "" "00000" "{PMID:Bernstein 2001:11726641}" "" "" "" "United States" "" "0" "" "" "" "IV-3" "00426675" "" "" "" "1" "" "00000" "{PMID:Bernstein 2001:11726641}" "" "" "" "United States" "" "0" "" "" "" "IV-4" "00426676" "" "" "" "1" "" "00000" "{PMID:Bernstein 2001:11726641}" "" "" "" "United States" "" "0" "" "" "" "IV-5" "00426677" "" "" "" "1" "" "00000" "{PMID:Bernstein 2001:11726641}" "" "" "" "United States" "" "0" "" "" "" "IV-6" "00426678" "" "" "" "1" "" "00000" "{PMID:Bernstein 2001:11726641}" "" "" "" "United States" "" "0" "" "" "" "IV-7" "00426679" "" "" "" "1" "" "00000" "{PMID:Bernstein 2001:11726641}" "" "" "" "United States" "" "0" "" "" "" "IV-9" "00426680" "" "" "" "1" "" "00000" "{PMID:Bernstein 2001:11726641}" "" "" "" "United States" "" "0" "" "" "" "IV-10" "00426681" "" "" "" "1" "" "00000" "{PMID:Bernstein 2001:11726641}" "" "" "" "United States" "" "0" "" "" "" "IV-12" "00426682" "" "" "" "1" "" "00000" "{PMID:Rivolta 2003:12592226}" "" "" "" "" "" "0" "" "" "" "" "00426683" "" "" "" "1" "" "00000" "{PMID:Rivolta 2003:12592226}" "" "" "" "" "" "0" "" "" "" "" "00426684" "" "" "" "15" "" "00000" "{PMID:Rivolta 2003:12592226}" "" "" "" "" "" "0" "" "" "" "" "00426685" "" "" "" "1" "" "00000" "{PMID:Rivolta 2003:12592226}" "" "" "" "" "" "0" "" "" "" "" "00426686" "" "" "" "12" "" "00000" "{PMID:Rivolta 2003:12592226}" "" "" "" "" "" "0" "" "" "" "" "00426687" "" "" "" "1" "" "00000" "{PMID:Vrabec 2003:12967813}" "proband" "" "" "" "" "0" "" "" "" "XI:1" "00426688" "" "" "" "1" "" "00000" "{PMID:Vrabec 2003:12967813}" "mother of XI:1" "" "" "" "" "0" "" "" "" "X:1" "00426689" "" "" "" "1" "" "00000" "{PMID:Vrabec 2003:12967813}" "daughter of XI:1" "" "" "" "" "0" "" "" "" "XII:1" "00426690" "" "" "" "1" "" "00000" "{PMID:Maugeri 2004:15557430}" "proband" "F" "" "Belgium" "" "0" "" "" "Belgian" "III:2" "00426691" "" "" "" "1" "" "00000" "{PMID:Maugeri 2004:15557430}" "daughter of III:2" "F" "" "Belgium" "" "0" "" "" "Belgian" "IV:1" "00426692" "" "" "" "1" "" "00000" "{PMID:Lai 2005:16364203}" "" "M" "" "China" "" "0" "" "" "Chinese" "III-12" "00426695" "" "" "" "1" "" "00000" "{PMID:Mir 2014:24571530}" "" "" "" "Pakistan" "" "0" "" "" "Pakistani" "IV-1" "00426696" "" "" "" "1" "" "00000" "{PMID:Mir 2014:24571530}" "" "" "" "Pakistan" "" "0" "" "" "Pakistani" "IV-2" "00426697" "" "" "" "1" "" "00000" "{PMID:Mir 2014:24571530}" "" "" "" "Pakistan" "" "0" "" "" "Pakistani" "IV-5" "00426698" "" "" "" "1" "" "00000" "{PMID:Tran 2016:27116512}" "" "M" "" "Switzerland" "" "0" "" "" "Swiss" "II:2" "00426699" "" "" "" "2" "" "00000" "{PMID:Tran 2016:27116512}" "" "F" "" "Switzerland" "" "0" "" "" "Swiss" "II:1, I:1" "00426700" "" "" "" "1" "" "00000" "{PMID:Donato 2018:29417145}" "" "M" "" "" "" "0" "" "" "Caucasian" "" "00426701" "" "" "" "30" "" "00000" "{PMID:Bardak 2016:27813578}" "" "" "" "" "" "0" "" "" "" "" "00426702" "" "" "" "1" "" "00000" "{PMID:Bardak 2016:27813578}" "" "" "" "" "" "0" "" "" "" "" "00450838" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "072164" "00450839" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "072296" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 82 "{{individualid}}" "{{diseaseid}}" "00033089" "04214" "00033114" "04214" "00033166" "04214" "00300619" "00198" "00333656" "04214" "00333729" "04214" "00333730" "04214" "00358981" "04214" "00362000" "04214" "00375659" "00198" "00380097" "04214" "00380337" "04214" "00380341" "04214" "00380342" "04214" "00380343" "04214" "00382351" "04214" "00387590" "04214" "00387591" "04214" "00390023" "04215" "00390770" "04214" "00390892" "04214" "00390910" "04214" "00390919" "04214" "00390943" "04214" "00395221" "04214" "00395222" "04214" "00395223" "04214" "00395224" "04214" "00395225" "04214" "00395226" "04214" "00395227" "04214" "00395228" "04214" "00395883" "04214" "00396481" "04214" "00419221" "04214" "00419222" "04214" "00420447" "04214" "00426658" "04214" "00426659" "04214" "00426660" "04214" "00426661" "04214" "00426662" "04214" "00426663" "04214" "00426664" "04214" "00426665" "00000" "00426666" "00000" "00426667" "04214" "00426668" "04214" "00426669" "00000" "00426670" "00000" "00426671" "04214" "00426672" "00000" "00426673" "00000" "00426674" "04214" "00426675" "04214" "00426676" "04214" "00426677" "04214" "00426678" "04214" "00426679" "04214" "00426680" "04214" "00426681" "00000" "00426682" "04214" "00426683" "04214" "00426684" "04214" "00426685" "04214" "00426686" "04214" "00426687" "04214" "00426688" "04214" "00426689" "04214" "00426690" "04214" "00426691" "04214" "00426692" "04214" "00426695" "04214" "00426696" "04214" "00426697" "04214" "00426698" "04214" "00426699" "04214" "00426700" "04214" "00426701" "04214" "00426702" "00000" "00450838" "04249" "00450839" "04249" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 01094, 01095, 01323, 04214, 04215, 04249 ## Count = 81 "{{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}}" "0000026518" "04214" "00033089" "00229" "Unknown" "16y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026543" "04214" "00033114" "00229" "Unknown" "35y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000026595" "04214" "00033166" "00229" "Unknown" "33y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000227930" "00198" "00300619" "01164" "Unknown" "" "Abnormality of the eye (HP:0000478)" "" "" "" "" "" "" "" "" "" "" "" "0000251840" "04214" "00333656" "00000" "Familial, autosomal dominant" "58y" "clinical category IB7" "" "" "" "" "" "" "" "" "" "syndromic retinitis pigmentosa (AD, ataxia)" "" "0000251913" "04214" "00333729" "00000" "Familial, autosomal dominant" "9y" "clinical category IID" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000251914" "04214" "00333730" "00000" "Familial, autosomal dominant" "48y" "clinical category IID" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000254279" "04214" "00358981" "00000" "Familial" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000257393" "04214" "00362000" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" "" "0000270872" "00198" "00375659" "00006" "Isolated (sporadic)" "" "intellectual disability/developmental delay; strabismus; dysarthria; hypotonia, dystonia, broad-based gait; MRI brain frontal lobe sulcal prominence, thin corpus callosum, thin superior cerebellar peduncle, prominent cerebellar foliation" "" "3y" "" "" "" "" "" "" "" "" "" "0000273951" "04214" "00380097" "00000" "Unknown" "59y" "Large soft drusen throughout the macula" "" "" "" "" "" "" "" "" "" "age-related macular degeneration" "" "0000274188" "04214" "00380337" "00000" "Familial, autosomal recessive" "61y" "central vision loss and geographic atrophy in a perifoveal “horseshoe” pattern" "" "" "" "" "" "" "" "" "" "Stargardt Disease (STGD)" "" "0000274192" "04214" "00380341" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt macular degeneration (STGD)" "" "0000274193" "04214" "00380342" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt macular degeneration (STGD)" "" "0000274194" "04214" "00380343" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt macular degeneration (STGD)" "" "0000276200" "04214" "00382351" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000281153" "04214" "00387590" "00000" "Familial, autosomal dominant" "7y" "" "" "" "" "" "" "" "" "" "" "Stargardt-like macular dystrophy" "" "0000281154" "04214" "00387591" "00000" "Familial, autosomal dominant" "18y" "" "15y" "" "" "" "" "" "" "" "" "Stargardt-like macular dystrophy" "" "0000283563" "04215" "00390023" "03840" "Isolated (sporadic)" "08y" "Macular atrophy, hyper-reflective deposition, thinning of the retina in the macular area" "02y" "" "" "" "" "" "" "" "Stargardt disease" "Stargardt disease" "" "0000284258" "04214" "00390770" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt’s disease (STGD)" "" "0000284380" "04214" "00390892" "00000" "Unknown" "31y-35y" "" "" "" "" "" "" "" "" "" "" "Stargardt’s disease (STGD)" "" "0000284398" "04214" "00390910" "00000" "Unknown" "41y-45y" "" "" "" "" "" "" "" "" "" "" "Stargardt’s disease (STGD)" "" "0000284407" "04214" "00390919" "00000" "Unknown" "46y-50y" "" "" "" "" "" "" "" "" "" "" "Stargardt’s disease (STGD)" "" "0000284431" "04214" "00390943" "00000" "Unknown" "41y-45y" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy (CRD)" "" "0000288421" "04214" "00395221" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 3" "Stargardt disease" "" "0000288422" "04214" "00395222" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 3" "Stargardt disease" "" "0000288423" "04214" "00395223" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 3" "Stargardt disease" "" "0000288424" "04214" "00395224" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 3" "Stargardt disease" "" "0000288425" "04214" "00395225" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 3" "Stargardt disease" "" "0000288426" "04214" "00395226" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 3" "Stargardt disease" "" "0000288427" "04214" "00395227" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 3" "Stargardt disease" "" "0000288428" "04214" "00395228" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Stargardt disease 3" "Stargardt disease" "" "0000289045" "04214" "00395883" "00000" "Unknown" "70y4m" "" "64y" "" "" "" "" "" "" "" "macular dystrophy" "" "" "0000289642" "04214" "00396481" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease" "" "" "0000310508" "04214" "00419221" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "" "0000310509" "04214" "00419222" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "" "0000311695" "04214" "00420447" "00000" "Familial, autosomal dominant" "70y4m" "" "64y" "" "" "" "" "" "" "" "macular dystrophy" "" "" "0000317813" "04214" "00426658" "00000" "Familial, autosomal dominant" "" "decreased visual acuity and characteristic fundus appearance" "" "" "" "" "" "" "" "" "" "Stargardt-like macular dystrophy (STGD3" "" "0000317814" "04214" "00426659" "00000" "Familial, autosomal dominant" "" "decreased visual acuity and characteristic fundus appearance" "" "" "" "" "" "" "" "" "" "Stargardt-like macular dystrophy (STGD4" "" "0000317815" "04214" "00426660" "00000" "Familial, autosomal dominant" "" "decreased visual acuity and characteristic fundus appearance" "" "" "" "" "" "" "" "" "" "Stargardt-like macular dystrophy (STGD5" "" "0000317816" "04214" "00426661" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Stargardt-like macular dystrophy (STGD6" "" "0000317817" "04214" "00426662" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "autosomal dominant macular dystrophy (adMD)" "" "0000317818" "04214" "00426663" "00000" "Familial, autosomal dominant" "68y" "VA: 20/400(RE) - 20/400(LE); Mild foveal pigment disruption with flecks." "63y" "" "" "" "" "" "" "" "" "Stargardt disease (adSTGD-like)" "" "0000317819" "04214" "00426664" "00000" "Familial, autosomal dominant" "51y" "VA: 20/200(RE) - 20/200(LE); Foveal atrophy with flecks" "8y" "" "" "" "" "" "" "" "" "Stargardt disease (adSTGD-like)" "" "0000317820" "00000" "00426665" "00000" "Familial, autosomal dominant" "48y" "VA: 20/20(RE) - 20/25(LE); Normal" "" "" "" "" "" "" "" "" "" "Normal" "" "0000317821" "00000" "00426666" "00000" "Familial, autosomal dominant" "47y" "VA: NA(RE) - NA(LE); Normal" "" "" "" "" "" "" "" "" "" "Normal" "" "0000317822" "04214" "00426667" "00000" "Familial, autosomal dominant" "50y" "VA: 20/70(RE) - 20/50(LE); Butterfly pattern dystrophy, no flecks" "13y" "" "" "" "" "" "" "" "" "Stargardt disease (adSTGD-like)" "" "0000317823" "04214" "00426668" "00000" "Familial, autosomal dominant" "49y" "VA: 20/60(RE) - 20/50(LE); Butterfly pattern dystrophy, no flecks" "18y" "" "" "" "" "" "" "" "" "Stargardt disease (adSTGD-like)" "" "0000317824" "00000" "00426669" "00000" "Familial, autosomal dominant" "47y" "VA: 20/20(RE) - 20/15(LE); Normal" "" "" "" "" "" "" "" "" "" "Normal" "" "0000317825" "00000" "00426670" "00000" "Familial, autosomal dominant" "43y" "VA: 20/15(RE) - 20/15(LE); Normal" "" "" "" "" "" "" "" "" "" "Normal" "" "0000317826" "04214" "00426671" "00000" "Familial, autosomal dominant" "33y" "VA: 20/80(RE) - 20/80(LE); Foveal pigment disruption with flecks" "27y" "" "" "" "" "" "" "" "" "Stargardt disease (adSTGD-like)" "" "0000317827" "00000" "00426672" "00000" "Familial, autosomal dominant" "27y" "VA: 20/15(RE) - 20/20(LE); Normal" "" "" "" "" "" "" "" "" "" "Normal" "" "0000317828" "00000" "00426673" "00000" "Familial, autosomal dominant" "25y" "VA: 20/15(RE) - 20/15(LE); Normal" "" "" "" "" "" "" "" "" "" "Normal" "" "0000317829" "04214" "00426674" "00000" "Familial, autosomal dominant" "23y" "VA: 20/80(RE) - 20/70(LE); Beaten metal macula, no flecks" "13y" "" "" "" "" "" "" "" "" "Stargardt disease (adSTGD-like)" "" "0000317830" "04214" "00426675" "00000" "Familial, autosomal dominant" "21y" "VA: 20/200(RE) - 20/200(LE); Beaten metal macula with flecks" "12y" "" "" "" "" "" "" "" "" "Stargardt disease (adSTGD-like)" "" "0000317831" "04214" "00426676" "00000" "Familial, autosomal dominant" "27y" "VA: 20/200(RE) - 20/200(LE); Foveal pigment disruption with flecks" "12y" "" "" "" "" "" "" "" "" "Stargardt disease (adSTGD-like)" "" "0000317832" "04214" "00426677" "00000" "Familial, autosomal dominant" "25y" "VA: 20/200(RE) - 20/200(LE); Foveal atrophy with flecks" "7y" "" "" "" "" "" "" "" "" "Stargardt disease (adSTGD-like)" "" "0000317833" "04214" "00426678" "00000" "Familial, autosomal dominant" "22y" "VA: 20/70(RE) - 20/80(LE); Butterfly pattern dystrophy, no flecks" "6y" "" "" "" "" "" "" "" "" "Stargardt disease (adSTGD-like)" "" "0000317834" "04214" "00426679" "00000" "Familial, autosomal dominant" "21y" "VA: 20/100(RE) - 20/100(LE); Foveal pigment disruption, no flecks" "16y" "" "" "" "" "" "" "" "" "Stargardt disease (adSTGD-like)" "" "0000317835" "04214" "00426680" "00000" "Familial, autosomal dominant" "18y" "VA: 20/40(RE) - 20/20(LE); Bulls-eye fovea, no flecks" "18y" "" "" "" "" "" "" "" "" "Stargardt disease (adSTGD-like)" "" "0000317836" "00000" "00426681" "00000" "Familial, autosomal dominant" "10y" "VA: 20/25(RE) - 20/25(LE); Normal" "" "" "" "" "" "" "" "" "" "Normal" "" "0000317837" "04214" "00426682" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000317838" "04214" "00426683" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa (arRP)" "" "0000317839" "04214" "00426684" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa (arRP)" "" "0000317840" "04214" "00426685" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa (arRP)" "" "0000317841" "04214" "00426686" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis (LCA)" "" "0000317842" "04214" "00426687" "00000" "Familial, autosomal dominant" "37y" "macular atrophy with a “beaten bronze” appearance and perifoveal flecks" "" "" "" "" "" "" "" "" "" "autosomal dominant Stargardt-like macular dystrophy" "" "0000317843" "04214" "00426688" "00000" "Familial, autosomal dominant" "62y" "marked foveal atrophy" "" "" "" "" "" "" "" "" "" "autosomal dominant Stargardt-like macular dystrophy" "" "0000317844" "04214" "00426689" "00000" "Familial, autosomal dominant" "12y" "mild foveal atrophy" "" "" "" "" "" "" "" "" "" "autosomal dominant Stargardt-like macular dystrophy" "" "0000317845" "04214" "00426690" "00000" "Familial, autosomal dominant" "39y" "VA: 20/400(OD) - 20/400(OS); Macular pigmentary changes, perimacular yellow flecks; Macular RPE window" "11y" "" "" "" "" "" "" "" "" "autosomal dominant Stargardt-like macular dystrophy (adSTGD-like)" "" "0000317846" "04214" "00426691" "00000" "Familial, autosomal dominant" "16y" "VA: 20/400(OD) - 20/400(OS); Macular pigmentary changes, progressive increase of yellow flecks in the posterior pole; Macular RPE window" "9y" "" "" "" "" "" "" "" "" "autosomal dominant Stargardt-like macular dystrophy (adSTGD-like)" "" "0000317847" "04214" "00426692" "00000" "Familial, autosomal dominant" "" "maculopathy; abnormal cone-derived and rod-derived responses" "" "" "" "" "" "" "" "" "" "autosomal dominant Stargardt-like macular dystrophy (adSTGD3-like)" "" "0000317850" "04214" "00426695" "00000" "Familial, autosomal recessive" "" "dry skin, erythematous and hyperkeratotic with scales present on lips, tip of the nose, ear pinna, legs, matacarpophalangeal joints and feet; tortuous vessels in the macular area with subtle macular changes" "" "" "" "" "" "" "" "" "" "neuro-ichthyotic disorder" "" "0000317851" "04214" "00426696" "00000" "Familial, autosomal recessive" "" "dry skin, erythematous and hyperkeratotic with scales present on lips, tip of the nose, ear pinna, legs, matacarpophalangeal joints and feet; Intellectual disability and spastic quadriplegia" "" "" "" "" "" "" "" "" "" "neuro-ichthyotic disorder" "" "0000317852" "04214" "00426697" "00000" "Familial, autosomal recessive" "" "dry skin, erythematous and hyperkeratotic with scales present on lips, tip of the nose, ear pinna, legs, matacarpophalangeal joints and feet; tortuous vessels in the macular area with subtle macular changes" "" "" "" "" "" "" "" "" "" "neuro-ichthyotic disorder" "" "0000317853" "04214" "00426698" "00000" "Familial, autosomal dominant" "22y" "bull?s eye maculopathy or geographic retinal pigment epithelium atrophy with or without subretinal flecks; generalized cone dysfunction without rod involvement; central scotoma correlating with central areolar non-functional chorioretinal" "" "" "" "" "" "" "" "" "" "Stargardt disease (adSTGD)" "" "0000317854" "04214" "00426699" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease (adSTGD)" "" "0000317855" "04214" "00426700" "00000" "Familial, autosomal dominant" "42y" "VA:1.6/10(RE) - 2/10(LE); peripheral visual field was well represented, while the central one was almost absent; initial loss of color vision, photophobia, and a slow dark adaptation; bilateral anatrophic, rounded maculopathy with sharp edges, surrounded by pisciform flecks; mottled areas of hyperautofluorescence and hypoautofluorescence, corresponding to areas of lipofuscin accumulation and RPE atrophy..." "" "" "" "" "" "" "" "" "" "Stargardt disease (adSTGD)" "" "0000317856" "04214" "00426701" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease (adSTGD)" "" "0000339893" "04249" "00450838" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" "" "0000339894" "04249" "00450839" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 82 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000033157" "00033089" "1" "00229" "00229" "2012-02-04 15:05:17" "00006" "2020-09-04 08:01:55" "RT-PCR;SEQ;SEQ-NG-S" "DNA;RNA" "" "" "0000033182" "00033114" "1" "00229" "00229" "2012-02-28 21:09:43" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" "" "0000033234" "00033166" "1" "00229" "00229" "2012-02-13 08:19:26" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" "" "0000301740" "00300619" "1" "01164" "01164" "2020-05-04 10:06:02" "" "" "SEQ-NG-S" "DNA" "" "" "0000334882" "00333656" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334955" "00333729" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000334956" "00333730" "1" "00000" "00006" "2021-02-26 12:01:19" "" "" "SEQ-NG" "DNA" "" "" "0000360218" "00358981" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000363228" "00362000" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000376856" "00375659" "1" "00006" "00006" "2021-06-14 20:30:20" "" "" "SEQ-NG" "DNA" "" "WES" "0000381298" "00380097" "1" "00000" "03840" "2021-08-10 09:32:07" "" "" "SEQ-NG" "DNA" "" "Whole-exome sequencing" "0000381551" "00380337" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ-NG" "DNA" "blood" "exome sequencing" "0000381555" "00380341" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" "" "0000381556" "00380342" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" "" "0000381557" "00380343" "1" "00000" "00008" "2021-08-13 14:56:11" "" "" "SEQ" "DNA" "blood" "" "0000383565" "00382351" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000388816" "00387590" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ" "DNA" "blood" "" "0000388817" "00387591" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ" "DNA" "blood" "" "0000391264" "00390023" "1" "03840" "03840" "2021-11-08 11:19:36" "" "" "SEQ-NG" "DNA" "blood" "panel-based next-generation sequencing" "0000392011" "00390770" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "arraySEQ" "DNA" "Blood" "" "0000392133" "00390892" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392151" "00390910" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392160" "00390919" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000392184" "00390943" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "SEQ" "DNA" "" "" "0000396467" "00395221" "1" "00000" "03840" "2021-12-03 19:39:26" "" "" "SEQ-NG-I" "DNA" "blood" "Trusight One" "0000396468" "00395222" "1" "00000" "03840" "2021-12-03 19:39:26" "" "" "SEQ-NG-I" "DNA" "blood" "Trusight One" "0000396469" "00395223" "1" "00000" "03840" "2021-12-03 19:39:26" "" "" "SEQ-NG-I" "DNA" "blood" "Trusight One" "0000396470" "00395224" "1" "00000" "03840" "2021-12-03 19:39:26" "" "" "SEQ-NG-I" "DNA" "blood" "Trusight One" "0000396471" "00395225" "1" "00000" "03840" "2021-12-03 19:39:26" "" "" "SEQ-NG-I" "DNA" "blood" "Trusight One" "0000396472" "00395226" "1" "00000" "03840" "2021-12-03 19:39:26" "" "" "SEQ-NG-I" "DNA" "blood" "Trusight One" "0000396473" "00395227" "1" "00000" "03840" "2021-12-03 19:39:26" "" "" "SEQ-NG-I" "DNA" "blood" "Trusight One" "0000396474" "00395228" "1" "00000" "03840" "2021-12-03 19:39:26" "" "" "SEQ-NG-I" "DNA" "blood" "Trusight One" "0000397122" "00395883" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397724" "00396481" "1" "00000" "03840" "2021-12-16 12:35:05" "" "" "SEQ-NG-I" "DNA" "blood" "panel of 254 genes implicated in retinopathies" "0000420525" "00419221" "1" "00000" "03840" "2022-10-19 11:08:16" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000420526" "00419222" "1" "00000" "03840" "2022-10-19 11:08:16" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "targeted next generation sequencing" "0000421756" "00420447" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000427978" "00426658" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000427979" "00426659" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000427980" "00426660" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000427981" "00426661" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000427982" "00426662" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;RT-PCR" "DNA;RNA" "" "" "0000427983" "00426663" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;DHPLC" "DNA" "" "" "0000427984" "00426664" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;DHPLC" "DNA" "" "" "0000427985" "00426665" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;DHPLC" "DNA" "" "" "0000427986" "00426666" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;DHPLC" "DNA" "" "" "0000427987" "00426667" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;DHPLC" "DNA" "" "" "0000427988" "00426668" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;DHPLC" "DNA" "" "" "0000427989" "00426669" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;DHPLC" "DNA" "" "" "0000427990" "00426670" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;DHPLC" "DNA" "" "" "0000427991" "00426671" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;DHPLC" "DNA" "" "" "0000427992" "00426672" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;DHPLC" "DNA" "" "" "0000427993" "00426673" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;DHPLC" "DNA" "" "" "0000427994" "00426674" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;DHPLC" "DNA" "" "" "0000427995" "00426675" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;DHPLC" "DNA" "" "" "0000427996" "00426676" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;DHPLC" "DNA" "" "" "0000427997" "00426677" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;DHPLC" "DNA" "" "" "0000427998" "00426678" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;DHPLC" "DNA" "" "" "0000427999" "00426679" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;DHPLC" "DNA" "" "" "0000428000" "00426680" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;DHPLC" "DNA" "" "" "0000428001" "00426681" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;DHPLC" "DNA" "" "" "0000428002" "00426682" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ" "DNA" "" "" "0000428003" "00426683" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ" "DNA" "" "" "0000428004" "00426684" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ" "DNA" "" "" "0000428005" "00426685" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ" "DNA" "" "" "0000428006" "00426686" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ" "DNA" "" "" "0000428007" "00426687" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ" "DNA" "" "" "0000428008" "00426688" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ" "DNA" "" "" "0000428009" "00426689" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ" "DNA" "" "" "0000428010" "00426690" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ" "DNA" "" "" "0000428011" "00426691" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ" "DNA" "" "" "0000428012" "00426692" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;DHPLC" "DNA" "" "" "0000428015" "00426695" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;PCR;microsat" "DNA" "" "" "0000428016" "00426696" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;PCR;microsat" "DNA" "" "" "0000428017" "00426697" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;PCR;microsat" "DNA" "" "" "0000428018" "00426698" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ" "DNA" "" "IROme analysis" "0000428019" "00426699" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ" "DNA" "" "IROme analysis" "0000428020" "00426700" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ;PCR" "DNA" "" "Also expression examined by Dual-Luciferase Reporter assay" "0000428021" "00426701" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ" "DNA" "" "" "0000428022" "00426702" "1" "00000" "00008" "2022-12-02 14:17:29" "" "" "SEQ" "DNA" "" "" "0000452436" "00450838" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452437" "00450839" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 77 "{{screeningid}}" "{{geneid}}" "0000033157" "ELOVL4" "0000033157" "IMPG2" "0000033182" "ELOVL4" "0000033182" "RIMS1" "0000033234" "CA4" "0000033234" "ELOVL4" "0000334882" "ELOVL4" "0000334955" "ELOVL4" "0000334956" "ELOVL4" "0000381551" "ELOVL4" "0000381555" "ELOVL4" "0000381556" "ELOVL4" "0000381557" "ELOVL4" "0000383565" "PRPF31" "0000388816" "ELOVL4" "0000388817" "ELOVL4" "0000392011" "ELOVL4" "0000392133" "ELOVL4" "0000392151" "ELOVL4" "0000392160" "ELOVL4" "0000392184" "ELOVL4" "0000396467" "ELOVL4" "0000396468" "ELOVL4" "0000396469" "ELOVL4" "0000396470" "ELOVL4" "0000396471" "ELOVL4" "0000396472" "ELOVL4" "0000396473" "ELOVL4" "0000396474" "ELOVL4" "0000397122" "ELOVL4" "0000397724" "ELOVL4" "0000420525" "ELOVL4" "0000420526" "ELOVL4" "0000421756" "ELOVL4" "0000427978" "ELOVL4" "0000427979" "ELOVL4" "0000427980" "ELOVL4" "0000427981" "ELOVL4" "0000427982" "ELOVL4" "0000427983" "ELOVL4" "0000427984" "ELOVL4" "0000427985" "ELOVL4" "0000427986" "ELOVL4" "0000427987" "ELOVL4" "0000427988" "ELOVL4" "0000427989" "ELOVL4" "0000427990" "ELOVL4" "0000427991" "ELOVL4" "0000427992" "ELOVL4" "0000427993" "ELOVL4" "0000427994" "ELOVL4" "0000427995" "ELOVL4" "0000427996" "ELOVL4" "0000427997" "ELOVL4" "0000427998" "ELOVL4" "0000427999" "ELOVL4" "0000428000" "ELOVL4" "0000428001" "ELOVL4" "0000428002" "ELOVL4" "0000428003" "ELOVL4" "0000428004" "ELOVL4" "0000428005" "ELOVL4" "0000428006" "ELOVL4" "0000428007" "ELOVL4" "0000428008" "ELOVL4" "0000428009" "ELOVL4" "0000428010" "ELOVL4" "0000428011" "ELOVL4" "0000428012" "ELOVL4" "0000428015" "ELOVL4" "0000428016" "ELOVL4" "0000428017" "ELOVL4" "0000428018" "ELOVL4" "0000428019" "ELOVL4" "0000428020" "ELOVL4" "0000428021" "ELOVL4" "0000428022" "ELOVL4" ## 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 = 136 "{{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}}" "0000059875" "1" "50" "6" "80626470" "80626470" "subst" "0.00732072" "00229" "ELOVL4_000001" "g.80626470A>G" "" "{PMID:Neveling 2012:22334370}" "" "" "not segregating with disease in other family" "Germline" "no" "" "0" "" "" "g.79916753A>G" "" "VUS" "" "0000059876" "1" "50" "6" "80626470" "80626470" "subst" "0.00732072" "00229" "ELOVL4_000001" "g.80626470A>G" "" "{PMID:Neveling 2012:22334370}" "" "" "not segregating with disease in other family" "Germline" "no" "" "0" "" "" "g.79916753A>G" "" "VUS" "" "0000059877" "1" "50" "6" "80626470" "80626470" "subst" "0.00732072" "00229" "ELOVL4_000001" "g.80626470A>G" "" "{PMID:Neveling 2012:22334370}" "" "" "not segregating with disease in other family" "Germline" "no" "" "0" "" "" "g.79916753A>G" "" "VUS" "" "0000059878" "1" "50" "6" "80626470" "80626470" "subst" "0.00732072" "00229" "ELOVL4_000001" "g.80626470A>G" "" "{PMID:Neveling 2012:22334370}" "" "" "not segregating with disease in other family" "Germline" "no" "" "0" "" "" "g.79916753A>G" "" "VUS" "" "0000059879" "1" "50" "6" "80626470" "80626470" "subst" "0.00732072" "00229" "ELOVL4_000001" "g.80626470A>G" "" "{PMID:Neveling 2012:22334370}" "" "" "not segregating with disease in other families" "Germline" "" "" "0" "" "" "g.79916753A>G" "" "VUS" "" "0000059880" "1" "50" "6" "80626470" "80626470" "subst" "0.00732072" "00229" "ELOVL4_000001" "g.80626470A>G" "" "{PMID:Neveling 2012:22334370}" "" "" "not segregating with disease in other families" "Germline" "" "" "0" "" "" "g.79916753A>G" "" "VUS" "" "0000265856" "0" "10" "6" "80631531" "80631531" "subst" "0.000959975" "02330" "ELOVL4_000005" "g.80631531G>A" "" "" "" "ELOVL4(NM_022726.4):c.370-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79921814G>A" "" "benign" "" "0000265857" "0" "10" "6" "80631457" "80631457" "subst" "8.12968E-6" "02330" "ELOVL4_000004" "g.80631457T>C" "" "" "" "ELOVL4(NM_022726.4):c.426A>G (p.T142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79921740T>C" "" "benign" "" "0000267810" "0" "30" "6" "80626603" "80626603" "subst" "0" "02325" "ELOVL4_000003" "g.80626603G>C" "" "" "" "ELOVL4(NM_022726.4):c.670-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79916886G>C" "" "likely benign" "" "0000276103" "0" "10" "6" "80636102" "80636102" "subst" "0.000704885" "01943" "ELOVL4_000007" "g.80636102T>C" "" "" "" "ELOVL4(NM_022726.3):c.101-4A>G, ELOVL4(NM_022726.4):c.101-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79926385T>C" "" "benign" "" "0000276104" "0" "50" "6" "80634731" "80634731" "subst" "0" "01943" "ELOVL4_000006" "g.80634731T>A" "" "" "" "ELOVL4(NM_022726.3):c.307A>T (p.N103Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79925014T>A" "" "VUS" "" "0000276105" "0" "50" "6" "80626468" "80626468" "subst" "8.13107E-6" "01943" "ELOVL4_000002" "g.80626468G>A" "" "" "" "ELOVL4(NM_022726.3):c.802C>T (p.R268W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.79916751G>A" "" "VUS" "" "0000529903" "0" "10" "6" "80626317" "80626317" "subst" "0.000959912" "02330" "ELOVL4_000008" "g.80626317A>G" "" "" "" "ELOVL4(NM_022726.4):c.*8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79916600A>G" "" "benign" "" "0000529906" "0" "30" "6" "80626571" "80626571" "subst" "0.00138763" "02330" "ELOVL4_000010" "g.80626571C>T" "" "" "" "ELOVL4(NM_022726.4):c.699G>A (p.T233=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79916854C>T" "" "likely benign" "" "0000529907" "0" "70" "6" "80626572" "80626572" "subst" "0" "01943" "ELOVL4_000011" "g.80626572G>A" "" "" "" "ELOVL4(NM_022726.3):c.698C>T (p.T233M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79916855G>A" "" "likely pathogenic" "" "0000529908" "0" "30" "6" "80634687" "80634687" "subst" "0.000252121" "01943" "ELOVL4_000012" "g.80634687A>T" "" "" "" "ELOVL4(NM_022726.3):c.351T>A (p.N117K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79924970A>T" "" "likely benign" "" "0000529909" "0" "50" "6" "80634727" "80634727" "subst" "7.73037E-5" "01943" "ELOVL4_000013" "g.80634727G>A" "" "" "" "ELOVL4(NM_022726.3):c.311C>T (p.A104V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79925010G>A" "" "VUS" "" "0000529910" "0" "30" "6" "80635958" "80635958" "subst" "4.06438E-6" "01943" "ELOVL4_000014" "g.80635958T>C" "" "" "" "ELOVL4(NM_022726.3):c.241A>G (p.I81V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79926241T>C" "" "likely benign" "" "0000610535" "0" "70" "6" "80626572" "80626572" "subst" "0" "02327" "ELOVL4_000011" "g.80626572G>A" "" "" "" "ELOVL4(NM_022726.3):c.698C>T (p.T233M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79916855G>A" "" "likely pathogenic" "" "0000610536" "0" "30" "6" "80634726" "80634726" "subst" "2.03401E-5" "01943" "ELOVL4_000015" "g.80634726C>T" "" "" "" "ELOVL4(NM_022726.3):c.312G>A (p.A104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79925009C>T" "" "likely benign" "" "0000610537" "0" "10" "6" "80636102" "80636102" "subst" "0.000704885" "02330" "ELOVL4_000007" "g.80636102T>C" "" "" "" "ELOVL4(NM_022726.3):c.101-4A>G, ELOVL4(NM_022726.4):c.101-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79926385T>C" "" "benign" "" "0000655669" "0" "50" "6" "80626509" "80626509" "subst" "0" "02325" "ELOVL4_000016" "g.80626509T>C" "" "" "" "ELOVL4(NM_022726.4):c.761A>G (p.Y254C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.79916792T>C" "" "VUS" "" "0000664808" "0" "70" "6" "80635929" "80635930" "del" "0" "01164" "ELOVL4_000017" "g.80635929_80635930del" "" "" "" "" "ACMG grading: PVS1,PM2\r\nMaculardystrophy at age 9y" "Germline" "" "" "0" "" "" "g.79926212_79926213del" "" "likely pathogenic" "ACMG" "0000721119" "0" "30" "6" "80626422" "80626422" "subst" "3.65669E-5" "01943" "ELOVL4_000018" "g.80626422A>G" "" "" "" "ELOVL4(NM_022726.3):c.848T>C (p.M283T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000732889" "0" "70" "6" "80631371" "80631371" "subst" "0" "00000" "ELOVL4_000020" "g.80631371A>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.79921654A>G" "" "likely pathogenic" "" "0000732962" "0" "70" "6" "80626479" "80626483" "del" "0" "00000" "ELOVL4_000019" "g.80626479_80626483del" "" "{PMID:Stone 2017:28559085}" "" "787_791delCTTAA" "" "Germline" "" "" "0" "" "" "g.79916762_79916766del" "" "likely pathogenic" "" "0000732963" "0" "70" "6" "80626479" "80626483" "del" "0" "00000" "ELOVL4_000019" "g.80626479_80626483del" "" "{PMID:Stone 2017:28559085}" "" "787_791delCTTAA" "" "Germline" "" "" "0" "" "" "g.79916762_79916766del" "" "likely pathogenic" "" "0000759945" "1" "90" "6" "80626460" "80626460" "subst" "0" "00000" "ELOVL4_000021" "g.80626460G>C" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.79916743G>C" "" "pathogenic" "" "0000763716" "0" "50" "6" "80634724" "80634724" "subst" "0" "00000" "ELOVL4_000022" "g.80634724C>G" "" "{PMID:Duvvari 2016:27007659}" "" "314C>G" "" "Germline" "" "" "0" "" "" "g.79925007C>G" "" "VUS" "" "0000788911" "0" "70" "6" "80656958" "80656971" "dup" "0" "00006" "ELOVL4_000023" "g.80656958_80656971dup" "" "{PMID:Srivastava 2014:25131622}" "" "35_48dup14" "" "De novo" "" "" "0" "" "" "g.79947241_79947254dup" "" "likely pathogenic" "" "0000794697" "0" "70" "6" "80636054" "80636054" "subst" "0" "00000" "ELOVL4_000026" "g.80636054T>C" "" "{PMID:Kersten 2018:30215852}" "" "c.145A>G; p.T49A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.79926337T>C" "" "likely pathogenic" "" "0000795012" "3" "50" "6" "80626339" "80626339" "subst" "0.000410592" "00000" "ELOVL4_000024" "g.80626339C>T" "" "{PMID:Strom-2012 :22863181}" "" "p.A311T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000795016" "0" "10" "6" "80626571" "80626571" "subst" "0.00138763" "00000" "ELOVL4_000010" "g.80626571C>T" "" "{PMID:Yi-2012:22948568}" "" "c.699G>A" "" "Unknown" "" "" "0" "" "" "" "" "benign" "" "0000795017" "3" "10" "6" "80626375" "80626375" "subst" "0.166289" "00000" "ELOVL4_000025" "g.80626375T>C" "" "{PMID:Yi-2012:22948568}" "" "c.895A>G" "" "Unknown" "" "rs3812153" "0" "" "" "" "" "benign" "" "0000795018" "0" "10" "6" "80626375" "80626375" "subst" "0.166289" "00000" "ELOVL4_000025" "g.80626375T>C" "" "{PMID:Yi-2012:22948568}" "" "c.895A>G" "" "Unknown" "" "rs3812153" "0" "" "" "" "" "benign" "" "0000797737" "0" "70" "6" "80656996" "80656996" "subst" "0" "00000" "ELOVL4_000027" "g.80656996T>C" "" "{PMID:Jespersgaar 2019:30718709}" "" "PRPF31 c.961A>T, p.(Lys321*), ELOVL4 c.1A>G, p.(Met1?)" "" "Germline" "?" "" "0" "" "" "g.79947279T>C" "" "likely pathogenic" "ACMG" "0000802749" "0" "90" "6" "80626418" "80626418" "del" "0" "01943" "ELOVL4_000028" "g.80626418del" "" "" "" "ELOVL4(NM_022726.3):c.852delT (p.N284Kfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000802750" "0" "50" "6" "80629182" "80629182" "subst" "0" "01943" "ELOVL4_000029" "g.80629182A>C" "" "" "" "ELOVL4(NM_022726.3):c.624T>G (p.I208M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000817574" "0" "90" "6" "80627274" "80627274" "del" "0" "00000" "ELOVL4_000030" "g.80627274delAAGTT" "" "{PMID:Palejwala 2016:26110599}" "" "c.790-794delAACTT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000817575" "0" "90" "6" "80627274" "80627274" "del" "0" "00000" "ELOVL4_000030" "g.80627274delAAGTT" "" "{PMID:Palejwala 2016:26110599}" "" "c.790-794delAACTT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000820996" "0" "70" "6" "80656938" "80656938" "subst" "0" "03840" "ELOVL4_000031" "g.80656938T>C" "" "{PMID:Hu 2020:32534057}" "" "ELOVL4 c.59A > G, p.(Asn20Ser)" "" "Germline" "?" "" "0" "" "" "g.79947221T>C" "" "likely pathogenic (dominant)" "" "0000822089" "0" "70" "6" "80626470" "80626470" "subst" "0.00732072" "00000" "ELOVL4_000001" "g.80626470A>G" "" "{PMID:Booij-2011:20801516}" "" "c.800T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822292" "0" "70" "6" "80626460" "80626460" "subst" "0" "00000" "ELOVL4_000021" "g.80626460G>C" "" "{PMID:Maggi_2021:33546218}" "" "c.810C>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822321" "0" "70" "6" "80626460" "80626460" "subst" "0" "00000" "ELOVL4_000021" "g.80626460G>C" "" "{PMID:Maggi_2021:33546218}" "" "c.810C>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822337" "0" "70" "6" "80626460" "80626460" "subst" "0" "00000" "ELOVL4_000021" "g.80626460G>C" "" "{PMID:Maggi_2021:33546218}" "" "c.810C>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000822379" "0" "70" "6" "80626460" "80626460" "subst" "0" "00000" "ELOVL4_000021" "g.80626460G>C" "" "{PMID:Maggi_2021:33546218}" "" "c.810C>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000828096" "0" "90" "6" "80626460" "80626460" "subst" "0" "00000" "ELOVL4_000021" "g.80626460G>C" "" "{PMID:Buhler 2021:34073554}" "" "ELOVL4 c.810C>G, p.(Tyr270*)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.79916743G>C" "" "pathogenic" "ACMG" "0000828097" "0" "90" "6" "80626460" "80626460" "subst" "0" "00000" "ELOVL4_000021" "g.80626460G>C" "" "{PMID:Buhler 2021:34073554}" "" "ELOVL4 c.810C>G, p.(Tyr270*)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.79916743G>C" "" "pathogenic" "ACMG" "0000828098" "0" "90" "6" "80626460" "80626460" "subst" "0" "00000" "ELOVL4_000021" "g.80626460G>C" "" "{PMID:Buhler 2021:34073554}" "" "ELOVL4 c.810C>G, p.(Tyr270*)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.79916743G>C" "" "pathogenic" "ACMG" "0000828099" "0" "90" "6" "80626460" "80626460" "subst" "0" "00000" "ELOVL4_000021" "g.80626460G>C" "" "{PMID:Buhler 2021:34073554}" "" "ELOVL4 c.810C>G, p.(Tyr270*)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.79916743G>C" "" "pathogenic" "ACMG" "0000828100" "0" "90" "6" "80626460" "80626460" "subst" "0" "00000" "ELOVL4_000021" "g.80626460G>C" "" "{PMID:Buhler 2021:34073554}" "" "ELOVL4 c.810C>G, p.(Tyr270*)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.79916743G>C" "" "pathogenic" "ACMG" "0000828101" "0" "90" "6" "80626460" "80626460" "subst" "0" "00000" "ELOVL4_000021" "g.80626460G>C" "" "{PMID:Buhler 2021:34073554}" "" "ELOVL4 c.810C>G, p.(Tyr270*)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.79916743G>C" "" "pathogenic" "ACMG" "0000828102" "0" "90" "6" "80626460" "80626460" "subst" "0" "00000" "ELOVL4_000021" "g.80626460G>C" "" "{PMID:Buhler 2021:34073554}" "" "ELOVL4 c.810C>G, p.(Tyr270*)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.79916743G>C" "" "pathogenic" "ACMG" "0000828103" "0" "90" "6" "80626460" "80626460" "subst" "0" "00000" "ELOVL4_000021" "g.80626460G>C" "" "{PMID:Buhler 2021:34073554}" "" "ELOVL4 c.810C>G, p.(Tyr270*)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.79916743G>C" "" "pathogenic" "ACMG" "0000828868" "0" "50" "6" "80629189" "80629189" "subst" "2.84525E-5" "00000" "ELOVL4_000032" "g.80629189G>T" "" "{PMID:Chen 2021:43360855}" "" "ELOVL4 c.[617C>A];[617=], V1: c.617C>A, (p.Pro206Gln)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.79919472G>T" "" "VUS" "ACMG" "0000829792" "0" "70" "6" "80626477" "80626481" "delins" "0" "00000" "ELOVL4_000033" "g.80626477_80626481delinsGTT" "" "{PMID:Dockery 2017:29099798}" "" "ELOVL4 c.789delTAACTTinsAACT, .Phe265fs_Asn264fs" "error in annotation, this variant should be annotated as c.789_793delinsAAC and not c.789delTAACTTinsAACT; only novel variants described in detail in the paper; original cohort contained over 750 patients from over 520 pedigrees," "Germline" "yes" "" "0" "" "" "g.79916760_79916764delinsGTT" "" "likely pathogenic" "" "0000851325" "0" "30" "6" "80626366" "80626366" "subst" "0" "01943" "ELOVL4_000034" "g.80626366T>C" "" "" "" "ELOVL4(NM_022726.3):c.904A>G (p.N302D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851326" "0" "70" "6" "80631379" "80631379" "subst" "0" "02325" "ELOVL4_000036" "g.80631379C>G" "" "" "" "ELOVL4(NM_022726.4):c.504G>C (p.L168F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000860527" "0" "30" "6" "80626456" "80626456" "subst" "0.00955373" "01804" "ELOVL4_000035" "g.80626456C>G" "" "" "" "ELOVL4(NM_022726.3):c.814G>C (p.(Glu272Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860528" "0" "30" "6" "80656991" "80656991" "subst" "1.65627E-5" "02330" "ELOVL4_000037" "g.80656991C>A" "" "" "" "ELOVL4(NM_022726.4):c.6G>T (p.G2=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000880882" "0" "30" "6" "80626456" "80626456" "subst" "0.00955373" "00000" "ELOVL4_000035" "g.80626456C>G" "minor allele frequency (1000 Genomes Project): 0.0012" "{PMID:Bardak 2016:27813578}" "" "ELOVL4 c.814G>C, E272Q" "heterozygous and homozygous" "Unknown" "?" "rs148919174" "0" "" "" "g.79916739C>G" "" "likely benign" "" "0000880883" "0" "30" "6" "80626375" "80626375" "subst" "0.166289" "00000" "ELOVL4_000025" "g.80626375T>C" "minor allele frequency (1000 Genomes Project): 0.2416" "{PMID:Bardak 2016:27813578}" "" "ELOVL4 c.895A>G, M299V" "heterozygous and homozygous" "Unknown" "?" "rs3812153" "0" "" "" "g.79916658T>C" "" "likely benign" "" "0000887476" "0" "30" "6" "80635968" "80635968" "subst" "3.65738E-5" "02330" "ELOVL4_000038" "g.80635968T>C" "" "" "" "ELOVL4(NM_022726.4):c.231A>G (p.L77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896534" "1" "50" "6" "80629189" "80629189" "subst" "2.84525E-5" "00000" "ELOVL4_000032" "g.80629189G>T" "Taiwan Biobank: 0.00033; GnomAD_exome_East: 0.000381; GnomAD_All: 0.0000279" "{PMID:Chen 2021:33608557}" "" "ELOVL4 c.[617C>A];[617=]; p.(Pro206Gln)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.79919472G>T" "" "VUS" "" "0000905560" "0" "70" "6" "80626469" "80626473" "del" "0" "00000" "ELOVL4_000040" "g.80626469_80626473del" "" "{PMID:Zhang 2001:11138005}" "" "797–801delAACTT" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000905561" "0" "70" "6" "80626469" "80626473" "del" "0" "00000" "ELOVL4_000040" "g.80626469_80626473del" "" "{PMID:Zhang 2001:11138005}" "" "797–801delAACTT" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000905562" "0" "70" "6" "80626469" "80626473" "del" "0" "00000" "ELOVL4_000040" "g.80626469_80626473del" "" "{PMID:Zhang 2001:11138005}" "" "797–801delAACTT" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000905563" "0" "70" "6" "80626469" "80626473" "del" "0" "00000" "ELOVL4_000040" "g.80626469_80626473del" "" "{PMID:Zhang 2001:11138005}" "" "797–801delAACTT" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000905564" "0" "70" "6" "80626469" "80626473" "del" "0" "00000" "ELOVL4_000040" "g.80626469_80626473del" "" "{PMID:Zhang 2001:11138005}" "" "797–801delAACTT" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000905565" "0" "90" "6" "80626480" "80626480" "del" "0" "00000" "ELOVL4_000042" "g.80626480del" "" "{PMID:Bernstein 2001:11726641}" "" "790DT+794DT" "0/292 general-population controls and 0/513 patients with AMD" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000905566" "0" "90" "6" "80626476" "80626476" "del" "0" "00000" "ELOVL4_000041" "g.80626476del" "" "{PMID:Bernstein 2001:11726641}" "" "790DT+794DT" "0/292 general-population controls and 0/513 patients with AMD" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000905567" "0" "90" "6" "80626480" "80626480" "del" "0" "00000" "ELOVL4_000042" "g.80626480del" "" "{PMID:Bernstein 2001:11726641}" "" "790DT+794DT" "0/292 general-population controls and 0/513 patients with AMD" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000905568" "0" "90" "6" "80626476" "80626476" "del" "0" "00000" "ELOVL4_000041" "g.80626476del" "" "{PMID:Bernstein 2001:11726641}" "" "790DT+794DT" "0/292 general-population controls and 0/513 patients with AMD" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000905569" "3" "30" "6" "80626297" "80626297" "subst" "0" "00000" "ELOVL4_000039" "g.80626297T>C" "" "{PMID:Bernstein 2001:11726641}" "" "973A>G (M299V)" "" "Germline" "yes" "" "0" "" "" "" "" "likely benign" "" "0000905570" "0" "90" "6" "80626480" "80626480" "del" "0" "00000" "ELOVL4_000042" "g.80626480del" "" "{PMID:Bernstein 2001:11726641}" "" "790DT+794DT" "0/292 general-population controls and 0/513 patients with AMD" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (!)" "" "0000905571" "0" "90" "6" "80626476" "80626476" "del" "0" "00000" "ELOVL4_000041" "g.80626476del" "" "{PMID:Bernstein 2001:11726641}" "" "790DT+794DT" "0/292 general-population controls and 0/513 patients with AMD" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (!)" "" "0000905572" "0" "90" "6" "80626480" "80626480" "del" "0" "00000" "ELOVL4_000042" "g.80626480del" "" "{PMID:Bernstein 2001:11726641}" "" "790DT+794DT" "0/292 general-population controls and 0/513 patients with AMD" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000905573" "0" "90" "6" "80626476" "80626476" "del" "0" "00000" "ELOVL4_000041" "g.80626476del" "" "{PMID:Bernstein 2001:11726641}" "" "790DT+794DT" "0/292 general-population controls and 0/513 patients with AMD" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000905574" "0" "90" "6" "80626480" "80626480" "del" "0" "00000" "ELOVL4_000042" "g.80626480del" "" "{PMID:Bernstein 2001:11726641}" "" "790DT+794DT" "0/292 general-population controls and 0/513 patients with AMD" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000905575" "0" "90" "6" "80626476" "80626476" "del" "0" "00000" "ELOVL4_000041" "g.80626476del" "" "{PMID:Bernstein 2001:11726641}" "" "790DT+794DT" "0/292 general-population controls and 0/513 patients with AMD" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000905576" "0" "90" "6" "80626480" "80626480" "del" "0" "00000" "ELOVL4_000042" "g.80626480del" "" "{PMID:Bernstein 2001:11726641}" "" "790DT+794DT" "0/292 general-population controls and 0/513 patients with AMD" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (!)" "" "0000905577" "0" "90" "6" "80626476" "80626476" "del" "0" "00000" "ELOVL4_000041" "g.80626476del" "" "{PMID:Bernstein 2001:11726641}" "" "790DT+794DT" "0/292 general-population controls and 0/513 patients with AMD" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (!)" "" "0000905578" "0" "30" "6" "80626297" "80626297" "subst" "0" "00000" "ELOVL4_000039" "g.80626297T>C" "" "{PMID:Bernstein 2001:11726641}" "" "973A>G (M299V)" "" "Germline" "yes" "" "0" "" "" "" "" "likely benign" "" "0000905579" "0" "90" "6" "80626480" "80626480" "del" "0" "00000" "ELOVL4_000042" "g.80626480del" "" "{PMID:Bernstein 2001:11726641}" "" "790DT+794DT" "0/292 general-population controls and 0/513 patients with AMD" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000905580" "0" "90" "6" "80626476" "80626476" "del" "0" "00000" "ELOVL4_000041" "g.80626476del" "" "{PMID:Bernstein 2001:11726641}" "" "790DT+794DT" "0/292 general-population controls and 0/513 patients with AMD" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000905581" "0" "30" "6" "80626297" "80626297" "subst" "0" "00000" "ELOVL4_000039" "g.80626297T>C" "" "{PMID:Bernstein 2001:11726641}" "" "973A>G (M299V)" "" "Germline" "yes" "" "0" "" "" "" "" "likely benign" "" "0000905582" "0" "30" "6" "80626297" "80626297" "subst" "0" "00000" "ELOVL4_000039" "g.80626297T>C" "" "{PMID:Bernstein 2001:11726641}" "" "973A>G (M299V)" "" "Germline" "yes" "" "0" "" "" "" "" "likely benign" "" "0000905583" "0" "70" "6" "80626297" "80626297" "subst" "0" "00000" "ELOVL4_000039" "g.80626297T>C" "" "{PMID:Bernstein 2001:11726641}" "" "973A>G (M299V)" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000905584" "0" "90" "6" "80626480" "80626480" "del" "0" "00000" "ELOVL4_000042" "g.80626480del" "" "{PMID:Bernstein 2001:11726641}" "" "790DT+794DT" "0/292 general-population controls and 0/513 patients with AMD" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000905585" "0" "90" "6" "80626476" "80626476" "del" "0" "00000" "ELOVL4_000041" "g.80626476del" "" "{PMID:Bernstein 2001:11726641}" "" "790DT+794DT" "0/292 general-population controls and 0/513 patients with AMD" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000905586" "0" "70" "6" "80626297" "80626297" "subst" "0" "00000" "ELOVL4_000039" "g.80626297T>C" "" "{PMID:Bernstein 2001:11726641}" "" "973A>G (M299V)" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000905587" "0" "90" "6" "80626480" "80626480" "del" "0" "00000" "ELOVL4_000042" "g.80626480del" "" "{PMID:Bernstein 2001:11726641}" "" "790DT+794DT" "0/292 general-population controls and 0/513 patients with AMD" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000905588" "0" "90" "6" "80626476" "80626476" "del" "0" "00000" "ELOVL4_000041" "g.80626476del" "" "{PMID:Bernstein 2001:11726641}" "" "790DT+794DT" "0/292 general-population controls and 0/513 patients with AMD" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000905589" "0" "90" "6" "80626480" "80626480" "del" "0" "00000" "ELOVL4_000042" "g.80626480del" "" "{PMID:Bernstein 2001:11726641}" "" "790DT+794DT" "0/292 general-population controls and 0/513 patients with AMD" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000905590" "0" "90" "6" "80626476" "80626476" "del" "0" "00000" "ELOVL4_000041" "g.80626476del" "" "{PMID:Bernstein 2001:11726641}" "" "790DT+794DT" "0/292 general-population controls and 0/513 patients with AMD" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000905591" "0" "90" "6" "80626480" "80626480" "del" "0" "00000" "ELOVL4_000042" "g.80626480del" "" "{PMID:Bernstein 2001:11726641}" "" "790DT+794DT" "0/292 general-population controls and 0/513 patients with AMD" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000905592" "0" "90" "6" "80626476" "80626476" "del" "0" "00000" "ELOVL4_000041" "g.80626476del" "" "{PMID:Bernstein 2001:11726641}" "" "790DT+794DT" "0/292 general-population controls and 0/513 patients with AMD" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000905593" "0" "90" "6" "80626480" "80626480" "del" "0" "00000" "ELOVL4_000042" "g.80626480del" "" "{PMID:Bernstein 2001:11726641}" "" "790DT+794DT" "0/292 general-population controls and 0/513 patients with AMD" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000905594" "0" "90" "6" "80626476" "80626476" "del" "0" "00000" "ELOVL4_000041" "g.80626476del" "" "{PMID:Bernstein 2001:11726641}" "" "790DT+794DT" "0/292 general-population controls and 0/513 patients with AMD" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000905595" "0" "90" "6" "80626480" "80626480" "del" "0" "00000" "ELOVL4_000042" "g.80626480del" "" "{PMID:Bernstein 2001:11726641}" "" "790DT+794DT" "0/292 general-population controls and 0/513 patients with AMD" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000905596" "0" "90" "6" "80626476" "80626476" "del" "0" "00000" "ELOVL4_000041" "g.80626476del" "" "{PMID:Bernstein 2001:11726641}" "" "790DT+794DT" "0/292 general-population controls and 0/513 patients with AMD" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000905597" "0" "90" "6" "80626480" "80626480" "del" "0" "00000" "ELOVL4_000042" "g.80626480del" "" "{PMID:Bernstein 2001:11726641}" "" "790DT+794DT" "0/292 general-population controls and 0/513 patients with AMD" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000905598" "0" "90" "6" "80626476" "80626476" "del" "0" "00000" "ELOVL4_000041" "g.80626476del" "" "{PMID:Bernstein 2001:11726641}" "" "790DT+794DT" "0/292 general-population controls and 0/513 patients with AMD" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000905599" "0" "70" "6" "80626297" "80626297" "subst" "0" "00000" "ELOVL4_000039" "g.80626297T>C" "" "{PMID:Bernstein 2001:11726641}" "" "973A>G (M299V)" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000905600" "0" "90" "6" "80626480" "80626480" "del" "0" "00000" "ELOVL4_000042" "g.80626480del" "" "{PMID:Bernstein 2001:11726641}" "" "790DT+794DT" "0/292 general-population controls and 0/513 patients with AMD" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (!)" "" "0000905601" "0" "90" "6" "80626476" "80626476" "del" "0" "00000" "ELOVL4_000041" "g.80626476del" "" "{PMID:Bernstein 2001:11726641}" "" "790DT+794DT" "0/292 general-population controls and 0/513 patients with AMD" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (!)" "" "0000905602" "0" "10" "6" "80631531" "80631531" "subst" "0.000959975" "00000" "ELOVL4_000005" "g.80631531G>A" "" "{PMID:Rivolta 2003:12592226}" "" "IVS3-18C>T" "0/168 arRP patients; 1/584 normal controls" "Germline" "yes" "" "0" "" "" "" "" "benign" "" "0000905603" "0" "10" "6" "0" "0" "" "0" "00000" "LAMA2_000000" "g.?" "" "{PMID:Rivolta 2003:12592226}" "" "Ile267Thr" "0/102 LCA patients; 13/584 normal controls" "Germline" "yes" "" "0" "" "" "" "" "benign" "" "0000905604" "0" "10" "6" "80626297" "80626297" "subst" "0" "00000" "ELOVL4_000039" "g.80626297T>C" "" "{PMID:Rivolta 2003:12592226}" "" "Met299Val" "117/1102 normal controls" "Germline" "yes" "" "0" "" "" "" "" "benign" "" "0000905605" "3" "10" "6" "80626297" "80626297" "subst" "0" "00000" "ELOVL4_000039" "g.80626297T>C" "" "{PMID:Rivolta 2003:12592226}" "" "Met299Val" "117/1102 normal controls" "Germline" "yes" "" "0" "" "" "" "" "benign" "" "0000905606" "0" "10" "6" "80626297" "80626297" "subst" "0" "00000" "ELOVL4_000039" "g.80626297T>C" "" "{PMID:Rivolta 2003:12592226}" "" "Met299Val" "117/1102 normal controls" "Germline" "yes" "" "0" "" "" "" "" "benign" "" "0000905607" "0" "90" "6" "80626469" "80626473" "del" "0" "00000" "ELOVL4_000040" "g.80626469_80626473delAAGTT" "" "{PMID:Vrabec 2003:12967813}" "" "797 to 801delAACTT" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000905608" "0" "90" "6" "80626469" "80626473" "del" "0" "00000" "ELOVL4_000040" "g.80626469_80626473delAAGTT" "" "{PMID:Vrabec 2003:12967813}" "" "797 to 801delAACTT" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000905609" "0" "90" "6" "80626469" "80626473" "del" "0" "00000" "ELOVL4_000040" "g.80626469_80626473delAAGTT" "" "{PMID:Vrabec 2003:12967813}" "" "797 to 801delAACTT" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000905610" "0" "90" "6" "80626460" "80626460" "subst" "0" "00000" "ELOVL4_000021" "g.80626460G>C" "" "{PMID:Maugeri 2004:15557430}" "" "p.Tyr270X" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000905611" "0" "90" "6" "80626460" "80626460" "subst" "0" "00000" "ELOVL4_000021" "g.80626460G>C" "" "{PMID:Maugeri 2004:15557430}" "" "p.Tyr270X" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000905612" "0" "10" "6" "80629133" "80629133" "subst" "0" "00000" "ELOVL4_000043" "g.80629133A>T" "" "{PMID:Lai 2005:16364203}" "" "IVS5-2533T>A" "" "Germline" "yes" "" "0" "" "" "" "" "benign" "" "0000905617" "3" "90" "6" "80656919" "80656919" "subst" "0" "00000" "ELOVL4_000045" "g.80656919G>C" "" "{PMID:Mir 2014:24571530}" "" "c.78C > G (p.Tyr26*)" "0/100 normal Pakistani individuals" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000905618" "3" "90" "6" "80656919" "80656919" "subst" "0" "00000" "ELOVL4_000045" "g.80656919G>C" "" "{PMID:Mir 2014:24571530}" "" "c.78C > G (p.Tyr26*)" "0/100 normal Pakistani individuals" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000905619" "3" "90" "6" "80656919" "80656919" "subst" "0" "00000" "ELOVL4_000045" "g.80656919G>C" "" "{PMID:Mir 2014:24571530}" "" "c.78C > G (p.Tyr26*)" "0/100 normal Pakistani individuals" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000905620" "0" "90" "6" "80626460" "80626460" "subst" "0" "00000" "ELOVL4_000021" "g.80626460G>C" "" "{PMID:Tran 2016:27116512}" "" "c.[810C>G]" "0/96 Swiss controls" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000905621" "0" "90" "6" "80626460" "80626460" "subst" "0" "00000" "ELOVL4_000021" "g.80626460G>C" "" "{PMID:Tran 2016:27116512}" "" "c.[810C>G]" "0/96 Swiss controls" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000905622" "21" "90" "6" "80657232" "80657232" "subst" "0" "00000" "ELOVL4_000047" "g.80657232G>A" "" "{PMID:Donato 2018:29417145}" "" "c.-236C>T (rs240307)" "" "Germline" "" "rs240307" "0" "" "" "" "" "pathogenic (!)" "" "0000905623" "11" "90" "6" "80657086" "80657086" "subst" "0" "00000" "ELOVL4_000046" "g.80657086C>G" "" "{PMID:Donato 2018:29417145}" "" "c.-90 G>C (rs62407622)" "" "Germline" "" "rs62407622" "0" "" "" "" "" "pathogenic (!)" "" "0000905624" "0" "10" "6" "80626456" "80626456" "subst" "0.00955373" "00000" "ELOVL4_000035" "g.80626456C>G" "" "{PMID:Bardak 2016:27813578}" "" "c.814G>C" "2/30 STGD patients" "Unknown" "" "rs148919174" "0" "" "" "" "" "benign" "" "0000905625" "3" "10" "6" "80626375" "80626375" "subst" "0.166289" "00000" "ELOVL4_000025" "g.80626375T>C" "" "{PMID:Bardak 2016:27813578}" "" "c.895A>G" "2/30 STGD patients and 10/250 healthy controls" "Unknown" "" "rs3812153" "0" "" "" "" "" "benign" "" "0000905626" "0" "10" "6" "80626375" "80626375" "subst" "0.166289" "00000" "ELOVL4_000025" "g.80626375T>C" "" "{PMID:Bardak 2016:27813578}" "" "c.895A>G" "8/30 STGD patients and 58/250 healthy controls" "Unknown" "" "rs3812153" "0" "" "" "" "" "benign" "" "0000905633" "0" "10" "6" "80634687" "80634687" "subst" "0.000252121" "00000" "ELOVL4_000012" "g.80634687A>T" "" "{PMID:Bardak 2016:27813578}" "" "c.351T>A" "1/250 healthy controls" "Unknown" "" "rs148018494" "0" "" "" "" "" "benign" "" "0000905634" "0" "10" "6" "80626470" "80626470" "subst" "0.00732072" "00000" "ELOVL4_000001" "g.80626470A>G" "" "{PMID:Bardak 2016:27813578}" "" "c.800T>C" "4/250 healthy controls" "Unknown" "" "rs148594713" "0" "" "" "" "" "benign" "" "0000905635" "3" "10" "6" "80631539" "80631539" "subst" "0" "00000" "ELOVL4_000044" "g.80631539A>T" "" "{PMID:Bardak 2016:27813578}" "" "c.370-26T>A" "133/250 healthy controls" "Unknown" "" "" "0" "" "" "" "" "benign" "" "0000977378" "0" "30" "6" "80657086" "80657086" "subst" "0" "02327" "ELOVL4_000046" "g.80657086C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977379" "0" "30" "6" "80657232" "80657232" "subst" "0" "02327" "ELOVL4_000047" "g.80657232G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000986419" "1" "70" "6" "80636099" "80657270" "del" "0" "04405" "ELOVL4_000048" "g.(?_80657270)_(80656896_80636099)del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "c.-274_(100+1_101-1)del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000986420" "1" "70" "6" "80626477" "80626481" "delins" "0" "04405" "ELOVL4_000033" "g.80626477_80626481delinsGTT" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.79916760_79916764delinsGTT" "" "likely pathogenic" "ACMG" "0000995928" "0" "30" "6" "80629139" "80629139" "subst" "0" "01804" "ELOVL4_000049" "g.80629139G>T" "" "" "" "ELOVL4(NM_022726.3):c.667C>A (p.(Leu223Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995929" "0" "30" "6" "80635928" "80635928" "subst" "2.44129E-5" "01804" "ELOVL4_000050" "g.80635928G>A" "" "" "" "ELOVL4(NM_022726.3):c.271C>T (p.(Leu91Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ELOVL4 ## Count = 136 "{{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}}" "0000059875" "00007050" "50" "800" "0" "800" "0" "c.800T>C" "r.(?)" "p.(Ile267Thr)" "6" "0000059876" "00007050" "50" "800" "0" "800" "0" "c.800T>C" "r.(?)" "p.(Ile267Thr)" "6" "0000059877" "00007050" "50" "800" "0" "800" "0" "c.800T>C" "r.(?)" "p.(Ile267Thr)" "6" "0000059878" "00007050" "50" "800" "0" "800" "0" "c.800T>C" "r.(?)" "p.(Ile267Thr)" "6" "0000059879" "00007050" "50" "800" "0" "800" "0" "c.800T>C" "r.(?)" "p.(Ile267Thr)" "6" "0000059880" "00007050" "50" "800" "0" "800" "0" "c.800T>C" "r.(?)" "p.(Ile267Thr)" "6" "0000265856" "00007050" "10" "370" "-18" "370" "-18" "c.370-18C>T" "r.(=)" "p.(=)" "" "0000265857" "00007050" "10" "426" "0" "426" "0" "c.426A>G" "r.(?)" "p.(Thr142=)" "" "0000267810" "00007050" "30" "670" "-3" "670" "-3" "c.670-3C>G" "r.spl?" "p.?" "" "0000276103" "00007050" "10" "101" "-4" "101" "-4" "c.101-4A>G" "r.spl?" "p.?" "" "0000276104" "00007050" "50" "307" "0" "307" "0" "c.307A>T" "r.(?)" "p.(Asn103Tyr)" "" "0000276105" "00007050" "50" "802" "0" "802" "0" "c.802C>T" "r.(?)" "p.(Arg268Trp)" "" "0000529903" "00007050" "10" "953" "0" "953" "0" "c.*8T>C" "r.(=)" "p.(=)" "" "0000529906" "00007050" "30" "699" "0" "699" "0" "c.699G>A" "r.(?)" "p.(Thr233=)" "" "0000529907" "00007050" "70" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "" "0000529908" "00007050" "30" "351" "0" "351" "0" "c.351T>A" "r.(?)" "p.(Asn117Lys)" "" "0000529909" "00007050" "50" "311" "0" "311" "0" "c.311C>T" "r.(?)" "p.(Ala104Val)" "" "0000529910" "00007050" "30" "241" "0" "241" "0" "c.241A>G" "r.(?)" "p.(Ile81Val)" "" "0000610535" "00007050" "70" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Thr233Met)" "" "0000610536" "00007050" "30" "312" "0" "312" "0" "c.312G>A" "r.(?)" "p.(Ala104=)" "" "0000610537" "00007050" "10" "101" "-4" "101" "-4" "c.101-4A>G" "r.spl?" "p.?" "" "0000655669" "00007050" "50" "761" "0" "761" "0" "c.761A>G" "r.(?)" "p.(Tyr254Cys)" "" "0000664808" "00007050" "70" "269" "0" "270" "0" "c.269_270del" "r.(?)" "p.(Asn90Thrfs*13)" "" "0000721119" "00007050" "30" "848" "0" "848" "0" "c.848T>C" "r.(?)" "p.(Met283Thr)" "" "0000732889" "00007050" "70" "512" "0" "512" "0" "c.512T>C" "r.(?)" "p.(Ile171Thr)" "" "0000732962" "00007050" "70" "790" "0" "794" "0" "c.790_794del" "r.(?)" "p.(Asn264Leufs*9)" "" "0000732963" "00007050" "70" "790" "0" "794" "0" "c.790_794del" "r.(?)" "p.(Asn264Leufs*9)" "" "0000759945" "00007050" "90" "810" "0" "810" "0" "c.810C>G" "r.(?)" "p.(Tyr270*)" "" "0000763716" "00007050" "50" "314" "0" "314" "0" "c.314G>C" "r.(?)" "p.(Gly105Ala)" "" "0000788911" "00007050" "70" "35" "0" "48" "0" "c.35_48dup" "r.(?)" "p.(Thr17Ter)" "" "0000794697" "00007050" "70" "145" "0" "145" "0" "c.145A>G" "r.(?)" "p.(Thr49Ala)" "" "0000795012" "00007050" "50" "931" "0" "931" "0" "c.931G>A" "r.(?)" "p.(Ala311Thr)" "6" "0000795016" "00007050" "10" "699" "0" "699" "0" "c.699G>A" "r.(=)" "p.(=)" "6" "0000795017" "00007050" "10" "895" "0" "895" "0" "c.895A>G" "r.(?)" "p.(Met299Val)" "6" "0000795018" "00007050" "10" "895" "0" "895" "0" "c.895A>G" "r.(?)" "p.(Met299Val)" "6" "0000797737" "00007050" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000802749" "00007050" "90" "852" "0" "852" "0" "c.852del" "r.(?)" "p.(Asn284Lysfs*8)" "" "0000802750" "00007050" "50" "624" "0" "624" "0" "c.624T>G" "r.(?)" "p.(Ile208Met)" "" "0000817574" "00007050" "90" "790" "-794" "790" "-794" "c.790-794delAACTT" "r.spl?" "p.?" "5i" "0000817575" "00007050" "90" "790" "-794" "790" "-794" "c.790-794delAACTT" "r.spl?" "p.?" "5i" "0000820996" "00007050" "70" "59" "0" "59" "0" "c.59A>G" "r(?)" "p.(Asn20Ser)" "1" "0000822089" "00007050" "70" "800" "0" "800" "0" "c.800T>C" "r.(?)" "p.(Ile267Thr)" "6" "0000822292" "00007050" "70" "810" "0" "810" "0" "c.810C>G" "r.(?)" "p.(Tyr270*)" "6" "0000822321" "00007050" "70" "810" "0" "810" "0" "c.810C>G" "r.(?)" "p.(Tyr270*)" "6" "0000822337" "00007050" "70" "810" "0" "810" "0" "c.810C>G" "r.(?)" "p.(Tyr270*)" "6" "0000822379" "00007050" "70" "810" "0" "810" "0" "c.810C>G" "r.(?)" "p.(Tyr270*)" "6" "0000828096" "00007050" "90" "810" "0" "810" "0" "c.810C>G" "r.(?)" "p.(Tyr270*)" "" "0000828097" "00007050" "90" "810" "0" "810" "0" "c.810C>G" "r.(?)" "p.(Tyr270*)" "" "0000828098" "00007050" "90" "810" "0" "810" "0" "c.810C>G" "r.(?)" "p.(Tyr270*)" "" "0000828099" "00007050" "90" "810" "0" "810" "0" "c.810C>G" "r.(?)" "p.(Tyr270*)" "" "0000828100" "00007050" "90" "810" "0" "810" "0" "c.810C>G" "r.(?)" "p.(Tyr270*)" "" "0000828101" "00007050" "90" "810" "0" "810" "0" "c.810C>G" "r.(?)" "p.(Tyr270*)" "" "0000828102" "00007050" "90" "810" "0" "810" "0" "c.810C>G" "r.(?)" "p.(Tyr270*)" "" "0000828103" "00007050" "90" "810" "0" "810" "0" "c.810C>G" "r.(?)" "p.(Tyr270*)" "" "0000828868" "00007050" "50" "617" "0" "617" "0" "c.617C>A" "r.(?)" "p.(Pro206Gln)" "" "0000829792" "00007050" "70" "789" "0" "793" "0" "c.789_793delinsAAC" "r.(?)" "p.(Asn264Thrfs*10)" "" "0000851325" "00007050" "30" "904" "0" "904" "0" "c.904A>G" "r.(?)" "p.(Asn302Asp)" "" "0000851326" "00007050" "70" "504" "0" "504" "0" "c.504G>C" "r.(?)" "p.(Leu168Phe)" "" "0000860527" "00007050" "30" "814" "0" "814" "0" "c.814G>C" "r.(?)" "p.(Glu272Gln)" "" "0000860528" "00007050" "30" "6" "0" "6" "0" "c.6G>T" "r.(?)" "p.(Gly2=)" "" "0000880882" "00007050" "30" "814" "0" "814" "0" "c.814G>C" "r.(?)" "p.(Glu272Gln)" "" "0000880883" "00007050" "30" "895" "0" "895" "0" "c.895A>G" "r.(?)" "p.(Met299Val)" "" "0000887476" "00007050" "30" "231" "0" "231" "0" "c.231A>G" "r.(?)" "p.(Leu77=)" "" "0000896534" "00007050" "50" "617" "0" "617" "0" "c.617C>A" "r.(?)" "p.(Pro206Gln)" "" "0000905560" "00007050" "70" "797" "0" "801" "0" "c.797_801del" "r.?" "p.?" "6" "0000905561" "00007050" "70" "797" "0" "801" "0" "c.797_801del" "r.?" "p.?" "6" "0000905562" "00007050" "70" "797" "0" "801" "0" "c.797_801del" "r.?" "p.?" "6" "0000905563" "00007050" "70" "797" "0" "801" "0" "c.797_801del" "r.?" "p.?" "6" "0000905564" "00007050" "70" "797" "0" "801" "0" "c.797_801del" "r.?" "p.?" "6" "0000905565" "00007050" "90" "790" "0" "790" "0" "c.790del" "r.?" "p.?" "6" "0000905566" "00007050" "90" "794" "0" "794" "0" "c.794del" "r.(?)" "p.(Phe265Serfs*19)" "6" "0000905567" "00007050" "90" "790" "0" "790" "0" "c.790del" "r.?" "p.?" "6" "0000905568" "00007050" "90" "794" "0" "794" "0" "c.794del" "r.(?)" "p.(Phe265Serfs*19)" "6" "0000905569" "00007050" "30" "973" "0" "973" "0" "c.973A>G" "r.?" "p.?" "6" "0000905570" "00007050" "90" "790" "0" "790" "0" "c.790del" "r.?" "p.?" "6" "0000905571" "00007050" "90" "794" "0" "794" "0" "c.794del" "r.(?)" "p.(Phe265Serfs*19)" "6" "0000905572" "00007050" "90" "790" "0" "790" "0" "c.790del" "r.?" "p.?" "6" "0000905573" "00007050" "90" "794" "0" "794" "0" "c.794del" "r.(?)" "p.(Phe265Serfs*19)" "6" "0000905574" "00007050" "90" "790" "0" "790" "0" "c.790del" "r.?" "p.?" "6" "0000905575" "00007050" "90" "794" "0" "794" "0" "c.794del" "r.(?)" "p.(Phe265Serfs*19)" "6" "0000905576" "00007050" "90" "790" "0" "790" "0" "c.790del" "r.?" "p.?" "6" "0000905577" "00007050" "90" "794" "0" "794" "0" "c.794del" "r.(?)" "p.(Phe265Serfs*19)" "6" "0000905578" "00007050" "30" "973" "0" "973" "0" "c.973A>G" "r.?" "p.?" "6" "0000905579" "00007050" "90" "790" "0" "790" "0" "c.790del" "r.?" "p.?" "6" "0000905580" "00007050" "90" "794" "0" "794" "0" "c.794del" "r.(?)" "p.(Phe265Serfs*19)" "6" "0000905581" "00007050" "30" "973" "0" "973" "0" "c.973A>G" "r.?" "p.?" "6" "0000905582" "00007050" "30" "973" "0" "973" "0" "c.973A>G" "r.?" "p.?" "6" "0000905583" "00007050" "70" "973" "0" "973" "0" "c.973A>G" "r.?" "p.?" "6" "0000905584" "00007050" "90" "790" "0" "790" "0" "c.790del" "r.?" "p.?" "6" "0000905585" "00007050" "90" "794" "0" "794" "0" "c.794del" "r.(?)" "p.(Phe265Serfs*19)" "6" "0000905586" "00007050" "70" "973" "0" "973" "0" "c.973A>G" "r.?" "p.?" "6" "0000905587" "00007050" "90" "790" "0" "790" "0" "c.790del" "r.?" "p.?" "6" "0000905588" "00007050" "90" "794" "0" "794" "0" "c.794del" "r.(?)" "p.(Phe265Serfs*19)" "6" "0000905589" "00007050" "90" "790" "0" "790" "0" "c.790del" "r.?" "p.?" "6" "0000905590" "00007050" "90" "794" "0" "794" "0" "c.794del" "r.(?)" "p.(Phe265Serfs*19)" "6" "0000905591" "00007050" "90" "790" "0" "790" "0" "c.790del" "r.?" "p.?" "6" "0000905592" "00007050" "90" "794" "0" "794" "0" "c.794del" "r.(?)" "p.(Phe265Serfs*19)" "6" "0000905593" "00007050" "90" "790" "0" "790" "0" "c.790del" "r.?" "p.?" "6" "0000905594" "00007050" "90" "794" "0" "794" "0" "c.794del" "r.(?)" "p.(Phe265Serfs*19)" "6" "0000905595" "00007050" "90" "790" "0" "790" "0" "c.790del" "r.?" "p.?" "6" "0000905596" "00007050" "90" "794" "0" "794" "0" "c.794del" "r.(?)" "p.(Phe265Serfs*19)" "6" "0000905597" "00007050" "90" "790" "0" "790" "0" "c.790del" "r.?" "p.?" "6" "0000905598" "00007050" "90" "794" "0" "794" "0" "c.794del" "r.(?)" "p.(Phe265Serfs*19)" "6" "0000905599" "00007050" "70" "973" "0" "973" "0" "c.973A>G" "r.?" "p.?" "6" "0000905600" "00007050" "90" "790" "0" "790" "0" "c.790del" "r.?" "p.?" "6" "0000905601" "00007050" "90" "794" "0" "794" "0" "c.794del" "r.(?)" "p.(Phe265Serfs*19)" "6" "0000905602" "00007050" "10" "370" "-18" "370" "-18" "c.370-18C>T" "r.(=)" "p.(=)" "3i" "0000905603" "00007050" "10" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000905604" "00007050" "10" "973" "0" "973" "0" "c.973A>G" "r.?" "p.?" "6" "0000905605" "00007050" "10" "973" "0" "973" "0" "c.973A>G" "r.?" "p.?" "6" "0000905606" "00007050" "10" "973" "0" "973" "0" "c.973A>G" "r.?" "p.?" "6" "0000905607" "00007050" "90" "797" "0" "801" "0" "c.797_801del" "r.?" "p.?" "6" "0000905608" "00007050" "90" "797" "0" "801" "0" "c.797_801del" "r.?" "p.?" "6" "0000905609" "00007050" "90" "797" "0" "801" "0" "c.797_801del" "r.?" "p.?" "6" "0000905610" "00007050" "90" "810" "0" "810" "0" "c.810C>G" "r.(?)" "p.(Tyr270*)" "6" "0000905611" "00007050" "90" "810" "0" "810" "0" "c.810C>G" "r.(?)" "p.(Tyr270*)" "6" "0000905612" "00007050" "10" "670" "-2533" "670" "-2533" "c.670-2533T>A" "r.spl?" "p.?" "5i" "0000905617" "00007050" "90" "78" "0" "78" "0" "c.78C>G" "r.(?)" "p.(Tyr26*)" "1" "0000905618" "00007050" "90" "78" "0" "78" "0" "c.78C>G" "r.(?)" "p.(Tyr26*)" "1" "0000905619" "00007050" "90" "78" "0" "78" "0" "c.78C>G" "r.(?)" "p.(Tyr26*)" "1" "0000905620" "00007050" "90" "810" "0" "810" "0" "c.[810C>G]" "r.(?)" "p.(Tyr270*)" "6" "0000905621" "00007050" "90" "810" "0" "810" "0" "c.[810C>G]" "r.(?)" "p.(Tyr270*)" "6" "0000905622" "00007050" "90" "-236" "0" "-236" "0" "c.-236C>T" "r.(=)" "p.(=)" "1" "0000905623" "00007050" "90" "-90" "0" "-90" "0" "c.-90G>C" "r.(=)" "p.(=)" "1" "0000905624" "00007050" "10" "814" "0" "814" "0" "c.814G>C" "r.(?)" "p.(Glu272Gln)" "6" "0000905625" "00007050" "10" "895" "0" "895" "0" "c.895A>G" "r.(?)" "p.(Met299Val)" "6" "0000905626" "00007050" "10" "895" "0" "895" "0" "c.895A>G" "r.(?)" "p.(Met299Val)" "6" "0000905633" "00007050" "10" "351" "0" "351" "0" "c.351T>A" "r.(?)" "p.(Asn117Lys)" "3" "0000905634" "00007050" "10" "800" "0" "800" "0" "c.800T>C" "r.(?)" "p.(Ile267Thr)" "6" "0000905635" "00007050" "10" "370" "-26" "370" "-26" "c.370-26T>A" "r.spl?" "p.?" "3i" "0000977378" "00007050" "30" "-90" "0" "-90" "0" "c.-90G>C" "r.(?)" "p.(=)" "" "0000977379" "00007050" "30" "-236" "0" "-236" "0" "c.-236C>T" "r.(?)" "p.(=)" "" "0000986419" "00007050" "70" "-274" "0" "100" "1" "c.(?_-274)_(100+1_101-1)del" "r.0?" "p.0?" "1_1i" "0000986420" "00007050" "70" "789" "0" "793" "0" "c.789_793delinsAAC" "r.(?)" "p.(Asn264ThrfsTer10)" "6" "0000995928" "00007050" "30" "667" "0" "667" "0" "c.667C>A" "r.(?)" "p.(Leu223Met)" "" "0000995929" "00007050" "30" "271" "0" "271" "0" "c.271C>T" "r.(?)" "p.(Leu91Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 108 "{{screeningid}}" "{{variantid}}" "0000033157" "0000059875" "0000033157" "0000059876" "0000033182" "0000059877" "0000033182" "0000059878" "0000033234" "0000059879" "0000033234" "0000059880" "0000301740" "0000664808" "0000334882" "0000732889" "0000334955" "0000732962" "0000334956" "0000732963" "0000360218" "0000759945" "0000363228" "0000763716" "0000376856" "0000788911" "0000381298" "0000794697" "0000381551" "0000795012" "0000381555" "0000795016" "0000381556" "0000795017" "0000381557" "0000795018" "0000383565" "0000797737" "0000388816" "0000817574" "0000388817" "0000817575" "0000391264" "0000820996" "0000392011" "0000822089" "0000392133" "0000822292" "0000392151" "0000822321" "0000392160" "0000822337" "0000392184" "0000822379" "0000396467" "0000828096" "0000396468" "0000828097" "0000396469" "0000828098" "0000396470" "0000828099" "0000396471" "0000828100" "0000396472" "0000828101" "0000396473" "0000828102" "0000396474" "0000828103" "0000397122" "0000828868" "0000397724" "0000829792" "0000420525" "0000880882" "0000420526" "0000880883" "0000421756" "0000896534" "0000427978" "0000905560" "0000427979" "0000905561" "0000427980" "0000905562" "0000427981" "0000905563" "0000427982" "0000905564" "0000427983" "0000905565" "0000427983" "0000905566" "0000427984" "0000905567" "0000427984" "0000905568" "0000427985" "0000905569" "0000427986" "0000905570" "0000427986" "0000905571" "0000427987" "0000905572" "0000427987" "0000905573" "0000427988" "0000905574" "0000427988" "0000905575" "0000427989" "0000905576" "0000427989" "0000905577" "0000427990" "0000905578" "0000427991" "0000905579" "0000427991" "0000905580" "0000427992" "0000905581" "0000427993" "0000905582" "0000427994" "0000905583" "0000427994" "0000905584" "0000427994" "0000905585" "0000427995" "0000905586" "0000427995" "0000905587" "0000427995" "0000905588" "0000427996" "0000905589" "0000427996" "0000905590" "0000427997" "0000905591" "0000427997" "0000905592" "0000427998" "0000905593" "0000427998" "0000905594" "0000427999" "0000905595" "0000427999" "0000905596" "0000428000" "0000905597" "0000428000" "0000905598" "0000428001" "0000905599" "0000428001" "0000905600" "0000428001" "0000905601" "0000428002" "0000905602" "0000428003" "0000905603" "0000428004" "0000905604" "0000428005" "0000905605" "0000428006" "0000905606" "0000428007" "0000905607" "0000428008" "0000905608" "0000428009" "0000905609" "0000428010" "0000905610" "0000428011" "0000905611" "0000428012" "0000905612" "0000428015" "0000905617" "0000428016" "0000905618" "0000428017" "0000905619" "0000428018" "0000905620" "0000428019" "0000905621" "0000428020" "0000905622" "0000428020" "0000905623" "0000428021" "0000905624" "0000428021" "0000905625" "0000428021" "0000905626" "0000428022" "0000905633" "0000428022" "0000905634" "0000428022" "0000905635" "0000452436" "0000986419" "0000452437" "0000986420"