### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RPS24) # 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}}" "RPS24" "ribosomal protein S24" "10" "q22" "unknown" "LRG_1145" "UD_132118705777" "" "https://www.LOVD.nl/RPS24" "" "1" "10411" "6229" "602412" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome. Initial data were obtained from the \"Diamond-Blackfan Anemia (DBA) Mutation Database\", pioneered by Ilenia Boria and Ugo Ramenghi (Boria et al. 2010, PMID:20960466)." "" "g" "https://databases.lovd.nl/shared/refseq/RPS24_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-04-20 19:16:09" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00025359" "RPS24" "transcript variant d" "001" "NM_001142285.1" "" "NP_001135757.1" "" "" "" "-142" "2673" "870" "79793518" "79816571" "00006" "2018-12-29 18:08:51" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "" "" "02966" "DBA3" "anemia, Diamond-Blackfan, type 3 (DBA3)" "AD" "610629" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-04-20 19:15:24" "05484" "DBA" "anemia, Diamond-Blackfan (DBA)" "" "" "" "" "" "00006" "2018-10-23 16:08:11" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "RPS24" "02966" "RPS24" "05484" ## Individuals ## Do not remove or alter this header ## ## Count = 32 "{{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}}" "00210755" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA029" "00210782" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA056" "00210789" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA063" "00210849" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA123" "00210915" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA189" "00210924" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA198" "00210937" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA211" "00210956" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case, uunaffected parents" "" "" "" "" "0" "" "" "" "30503522-PatDBA230" "00211021" "" "" "" "2" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case with affected relative" "" "" "" "" "0" "" "" "" "30503522-PatDBA295" "00211022" "" "" "" "2" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case with affected relative" "" "" "" "" "0" "" "" "" "30503522-PatDBA296" "00211023" "" "" "" "2" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case with affected relative" "" "" "" "" "0" "" "" "" "30503522-PatDBA297" "00211030" "" "" "" "2" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case with affected relative" "" "" "" "" "0" "" "" "" "30503522-PatDBA304" "00211035" "" "" "" "2" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case with affected relative" "" "" "" "" "0" "" "" "" "30503522-PatDBA309" "00211036" "" "" "" "2" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case with affected relative" "" "" "" "" "0" "" "" "" "30503522-PatDBA310" "00211037" "" "" "" "2" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case with affected relative" "" "" "" "" "0" "" "" "" "30503522-PatDBA311" "00211150" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel57" "00211151" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel58" "00211152" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel59" "00211153" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel60" "00211154" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel61" "00211155" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel62" "00211156" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel63" "00211157" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel64" "00211158" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel65" "00308734" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00362282" "" "" "" "5" "" "00006" "{PMID:Gazda 2006:17186470}" "3-generation family, 5 affected (F, 4M)" "F;M" "" "United States" "" "0" "" "" "" "FamMA-1PatD1" "00362283" "" "" "" "1" "" "00006" "{PMID:Gazda 2006:17186470}" "" "" "" "United States" "" "0" "" "" "" "PatD2" "00362284" "" "" "" "2" "" "00006" "{PMID:Gazda 2006:17186470}" "family, affected father/son" "M" "" "United States" "" "0" "" "" "" "PatD3" "00362285" "" "" "" "1" "" "00006" "{PMID:Quarello 2010:19773262}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00362286" "" "" "" "1" "" "00006" "{PMID:Quarello 2010:19773262}" "" "" "" "Italy" "" "0" "" "" "" "patient" "00362287" "" "" "" "1" "" "00006" "{PMID:Badhai 2009:19689926}" "" "F" "" "Sweden" "" "0" "" "" "" "patient" "00362357" "" "" "" "1" "" "00006" "{PMID:Boria 2010:20960466}" "" "M" "" "" "" "0" "" "" "" "Ps24_1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 32 "{{individualid}}" "{{diseaseid}}" "00210755" "05484" "00210782" "05484" "00210789" "05484" "00210849" "05484" "00210915" "05484" "00210924" "05484" "00210937" "05484" "00210956" "05484" "00211021" "05484" "00211022" "05484" "00211023" "05484" "00211030" "05484" "00211035" "05484" "00211036" "05484" "00211037" "05484" "00211150" "05484" "00211151" "05484" "00211152" "05484" "00211153" "05484" "00211154" "05484" "00211155" "05484" "00211156" "05484" "00211157" "05484" "00211158" "05484" "00308734" "00000" "00362282" "05484" "00362283" "05484" "00362284" "05484" "00362285" "05484" "00362286" "05484" "00362287" "05484" "00362357" "05484" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 02966, 05484 ## Count = 20 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000159317" "05484" "00210755" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159344" "05484" "00210782" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159351" "05484" "00210789" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159411" "05484" "00210849" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159477" "05484" "00210915" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159486" "05484" "00210924" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159499" "05484" "00210937" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159518" "05484" "00210956" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159583" "05484" "00211021" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159584" "05484" "00211022" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159585" "05484" "00211023" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159592" "05484" "00211030" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159597" "05484" "00211035" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159598" "05484" "00211036" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159599" "05484" "00211037" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000257699" "05484" "00362282" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "DBA3" "Diamond-Blackfan anemia" "0000257700" "05484" "00362283" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "DBA3" "Diamond-Blackfan anemia" "0000257701" "05484" "00362284" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "DBA3" "Diamond-Blackfan anemia" "0000257703" "05484" "00362287" "00006" "Isolated (sporadic)" "26y" "transfusion dependent; short stature (-4SD), dysmorphic facial appearance" "" "" "" "" "" "" "" "DBA1" "Diamond-Blackfan anemia" "0000257770" "05484" "00362357" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "DBA3" "Diamond-Blackfan anemia" ## Screenings ## Do not remove or alter this header ## ## Count = 32 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000211833" "00210755" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;PCRq;SEQ-NG" "DNA" "" "WES" "0000211860" "00210782" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211867" "00210789" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211927" "00210849" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211993" "00210915" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;PCRq;SEQ-NG" "DNA" "" "WES" "0000212002" "00210924" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;PCRq;SEQ-NG" "DNA" "" "WES" "0000212015" "00210937" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212034" "00210956" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;PCRq;SEQ-NG" "DNA" "" "WES" "0000212099" "00211021" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212100" "00211022" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212101" "00211023" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212108" "00211030" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212113" "00211035" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212114" "00211036" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212115" "00211037" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212228" "00211150" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212229" "00211151" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212230" "00211152" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212231" "00211153" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212232" "00211154" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212233" "00211155" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212234" "00211156" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212235" "00211157" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212236" "00211158" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000309879" "00308734" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000363511" "00362282" "1" "00006" "00006" "2021-04-20 19:22:49" "" "" "SEQ" "DNA" "" "" "0000363512" "00362283" "1" "00006" "00006" "2021-04-20 19:27:11" "" "" "SEQ" "DNA" "" "" "0000363513" "00362284" "1" "00006" "00006" "2021-04-20 19:29:55" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000363514" "00362285" "1" "00006" "00006" "2021-04-20 19:39:29" "" "" "SEQ" "DNA" "" "" "0000363515" "00362286" "1" "00006" "00006" "2021-04-20 19:40:59" "" "" "SEQ" "DNA" "" "" "0000363516" "00362287" "1" "00006" "00006" "2021-04-20 19:51:42" "" "" "SEQ" "DNA" "" "" "0000363585" "00362357" "1" "00006" "00006" "2021-04-22 14:27:43" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{geneid}}" "0000211833" "RPS24" "0000211860" "RPS24" "0000211867" "RPS24" "0000211927" "RPS24" "0000211993" "RPS24" "0000212002" "RPS24" "0000212015" "RPS24" "0000212034" "RPS24" "0000212099" "RPS24" "0000212100" "RPS24" "0000212101" "RPS24" "0000212108" "RPS24" "0000212113" "RPS24" "0000212114" "RPS24" "0000212115" "RPS24" "0000212228" "RPS24" "0000212229" "RPS24" "0000212230" "RPS24" "0000212231" "RPS24" "0000212232" "RPS24" "0000212233" "RPS24" "0000212234" "RPS24" "0000212235" "RPS24" "0000212236" "RPS24" "0000309879" "RPS24" "0000363511" "RPS24" "0000363512" "RPS24" "0000363513" "RPS24" "0000363514" "RPS24" "0000363515" "RPS24" "0000363516" "RPS24" "0000363585" "RPS24" ## 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 = 43 "{{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}}" "0000253548" "0" "10" "10" "79814599" "79814599" "subst" "0.00180528" "01943" "RPS24_000012" "g.79814599A>G" "" "" "" "RPS24(NM_001142285.1):c.701A>G (p.H234R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78054841A>G" "" "benign" "" "0000443463" "1" "90" "10" "79793518" "79816571" "del" "0" "00006" "RPS24_000001" "g.(?_79793518)_(79816571_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000443492" "1" "90" "10" "79793661" "79793661" "subst" "0" "00006" "RPS24_000004" "g.79793661T>C" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.78033903T>C" "" "pathogenic (dominant)" "" "0000443499" "1" "90" "10" "0" "0" "" "0" "00006" "CYP2C9_001038" "g.?" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000443561" "1" "90" "10" "79797063" "79797063" "subst" "0" "00006" "RPS24_000009" "g.79797063G>A" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.78037305G>A" "" "pathogenic (dominant)" "" "0000443630" "1" "90" "10" "79793518" "79816571" "del" "0" "00006" "RPS24_000001" "g.(?_79793518)_(79816571_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000443642" "1" "90" "10" "79793518" "79816571" "del" "0" "00006" "RPS24_000001" "g.(?_79793518)_(79816571_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000443656" "1" "90" "10" "79793660" "79793660" "subst" "0" "00006" "RPS24_000003" "g.79793660A>G" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.78033902A>G" "" "pathogenic (dominant)" "" "0000443675" "1" "90" "10" "79793518" "79816571" "del" "0" "00006" "RPS24_000001" "g.(?_79793518)_(79816571_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000443742" "1" "90" "10" "79796988" "79796988" "subst" "0" "00006" "RPS24_000008" "g.79796988C>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.78037230C>T" "" "pathogenic (dominant)" "" "0000443743" "1" "90" "10" "79796988" "79796988" "subst" "0" "00006" "RPS24_000008" "g.79796988C>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.78037230C>T" "" "pathogenic (dominant)" "" "0000443744" "1" "90" "10" "79796988" "79796988" "subst" "0" "00006" "RPS24_000008" "g.79796988C>T" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.78037230C>T" "" "pathogenic (dominant)" "" "0000443751" "1" "90" "10" "79795126" "79795126" "subst" "0" "00006" "RPS24_000006" "g.79795126T>G" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.78035368T>G" "" "pathogenic (dominant)" "" "0000443756" "1" "90" "10" "79795126" "79795126" "subst" "0" "00006" "RPS24_000006" "g.79795126T>G" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.78035368T>G" "" "pathogenic (dominant)" "" "0000443757" "1" "90" "10" "79795126" "79795126" "subst" "0" "00006" "RPS24_000006" "g.79795126T>G" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.78035368T>G" "" "pathogenic (dominant)" "" "0000443758" "1" "90" "10" "79795126" "79795126" "subst" "0" "00006" "RPS24_000006" "g.79795126T>G" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "g.78035368T>G" "" "pathogenic (dominant)" "" "0000443871" "0" "70" "10" "79793609" "79793714" "del" "0" "00006" "RPS24_000002" "g.(?_79793609)_(79793714_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443872" "0" "70" "10" "79793609" "79793714" "del" "0" "00006" "RPS24_000002" "g.(?_79793609)_(79793714_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443873" "0" "70" "10" "79795108" "79795177" "del" "0" "00006" "RPS24_000005" "g.(?_79795108)_(79795177_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443874" "0" "70" "10" "79795108" "79795177" "del" "0" "00006" "RPS24_000005" "g.(?_79795108)_(79795177_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443875" "0" "70" "10" "79795108" "79795177" "del" "0" "00006" "RPS24_000005" "g.(?_79795108)_(79795177_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443876" "0" "70" "10" "79795267" "79795480" "del" "0" "00006" "RPS24_000007" "g.(?_79795267)_(79795480_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443877" "0" "70" "10" "79797670" "79797778" "del" "0" "00006" "RPS24_000010" "g.(?_79797670)_(79797778_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443878" "0" "70" "10" "79797670" "79797778" "del" "0" "00006" "RPS24_000010" "g.(?_79797670)_(79797778_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443879" "0" "70" "10" "79800371" "79800386" "del" "0" "00006" "RPS24_000011" "g.(?_79800371)_(79800386_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000541072" "0" "10" "10" "79814609" "79814609" "subst" "0.00109627" "01943" "RPS24_000013" "g.79814609C>T" "" "" "" "RPS24(NM_001142285.1):c.711C>T (p.D237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78054851C>T" "" "benign" "" "0000541073" "0" "30" "10" "79814731" "79814731" "subst" "0" "01943" "RPS24_000014" "g.79814731T>C" "" "" "" "RPS24(NM_001142285.1):c.833T>C (p.F278S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78054973T>C" "" "likely benign" "" "0000678927" "0" "30" "10" "79795166" "79795166" "subst" "2.84243E-5" "01804" "RPS24_000015" "g.79795166G>A" "" "" "" "RPS24(NM_001026.4):c.60G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678928" "0" "30" "10" "79795388" "79795388" "subst" "0.000218887" "01943" "RPS24_000016" "g.79795388T>C" "" "" "" "RPS24(NM_001142285.1):c.189T>C (p.H63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678929" "0" "10" "10" "79799959" "79799959" "subst" "0.0169531" "01804" "RPS24_000017" "g.79799959C>A" "" "" "" "RPS24(NM_001142282.1):c.394-3C>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000684781" "0" "30" "10" "79814709" "79814709" "subst" "0.00332889" "00004" "RPS24_000018" "g.79814709A>C" "frequency 0.039" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.78054951A>C" "" "likely benign" "" "0000764208" "1" "90" "10" "79796988" "79796988" "subst" "0" "00006" "RPS24_000008" "g.79796988C>T" "" "{PMID:Gazda 2006:17186470}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000764209" "0" "90" "10" "79795152" "79795152" "subst" "0" "00006" "RPS24_000019" "g.79795152C>T" "" "{PMID:Gazda 2006:17186470}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000764210" "11" "90" "10" "79795096" "79795112" "delins" "0" "00006" "RPS24_000020" "g.79795096_79795112delinsTACGGATAG" "" "{PMID:Gazda 2006:17186470}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000764211" "0" "90" "10" "79795170" "79795172" "del" "0" "00006" "RPS24_000021" "g.79795170_79795172del" "" "{PMID:Quarello 2010:19773262}" "" "64_66delCAA" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000764212" "0" "50" "10" "79797043" "79797043" "subst" "0.000324078" "00006" "RPS24_000022" "g.79797043A>G" "" "{PMID:Quarello 2010:19773262}" "" "Asn124Ser" "variant present in 2 unaffected family members" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000764214" "0" "90" "10" "79793660" "79793660" "subst" "0" "00006" "RPS24_000003" "g.79793660A>G" "" "{PMID:Badhai 2009:19689926}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000764284" "0" "90" "10" "79797063" "79797063" "subst" "0" "00006" "RPS24_000009" "g.79797063G>A" "" "{PMID:Boria 2010:20960466}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.78037305G>A" "" "pathogenic (dominant)" "" "0000889260" "0" "50" "10" "79793647" "79793647" "subst" "0" "02325" "POLR3A_000099" "g.79793647A>C" "" "" "" "RPS24(NM_033022.4):c.-13A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998545" "0" "50" "10" "79795104" "79795104" "subst" "0" "01804" "RPS24_000023" "g.79795104T>A" "" "" "" "RPS24(NM_001142285.1):c.4-6T>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998546" "0" "30" "10" "79814610" "79814610" "subst" "1.37071E-5" "01804" "RPS24_000024" "g.79814610G>A" "" "" "" "RPS24(NM_001142285.1):c.712G>A (p.(Gly238Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038040" "0" "10" "10" "79795376" "79795376" "subst" "0.00544397" "01804" "RPS24_000025" "g.79795376A>G" "" "" "" "RPS24(NM_033022.4):c.177A>G (p.(Gly59=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001038041" "0" "10" "10" "79797185" "79797187" "del" "0" "01804" "RPS24_000026" "g.79797185_79797187del" "" "" "" "RPS24(NM_001142282.2):c.391-12_391-10del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 RPS24 ## Count = 43 "{{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}}" "0000253548" "00025359" "10" "701" "0" "701" "0" "c.701A>G" "r.(?)" "p.(His234Arg)" "" "0000443463" "00025359" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000443492" "00025359" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.0?" "" "0000443499" "00025359" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000443561" "00025359" "90" "390" "1" "390" "1" "c.390+1G>A" "r.spl" "p.?" "" "0000443630" "00025359" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000443642" "00025359" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000443656" "00025359" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "" "0000443675" "00025359" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000443742" "00025359" "90" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Gln106*)" "" "0000443743" "00025359" "90" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Gln106*)" "" "0000443744" "00025359" "90" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Gln106*)" "" "0000443751" "00025359" "90" "20" "0" "20" "0" "c.20T>G" "r.(?)" "p.(Ile7Ser)" "" "0000443756" "00025359" "90" "20" "0" "20" "0" "c.20T>G" "r.(?)" "p.(Ile7Ser)" "" "0000443757" "00025359" "90" "20" "0" "20" "0" "c.20T>G" "r.(?)" "p.(Ile7Ser)" "" "0000443758" "00025359" "90" "20" "0" "20" "0" "c.20T>G" "r.(?)" "p.(Ile7Ser)" "" "0000443871" "00025359" "70" "-51" "0" "3" "52" "c.(?_-51)_(3+52_?)del" "r.?" "p.0?" "" "0000443872" "00025359" "70" "-51" "0" "3" "52" "c.(?_-51)_(3+52_?)del" "r.?" "p.0?" "" "0000443873" "00025359" "70" "4" "-2" "69" "2" "c.(?_4-2)_(69+2_?)del" "r.?" "p.?" "" "0000443874" "00025359" "70" "4" "-2" "69" "2" "c.(?_4-2)_(69+2_?)del" "r.?" "p.?" "" "0000443875" "00025359" "70" "4" "-2" "69" "2" "c.(?_4-2)_(69+2_?)del" "r.?" "p.?" "" "0000443876" "00025359" "70" "70" "-2" "279" "2" "c.(?_70-2)_(279+2_?)del" "r.?" "p.?" "" "0000443877" "00025359" "70" "390" "608" "390" "716" "c.(?_390+608)_(390+716_?)del" "r.?" "p.?" "" "0000443878" "00025359" "70" "390" "608" "390" "716" "c.(?_390+608)_(390+716_?)del" "r.?" "p.?" "" "0000443879" "00025359" "70" "390" "3309" "390" "3324" "c.(?_390+3309)_(390+3324_?)del" "r.?" "p.?" "" "0000541072" "00025359" "10" "711" "0" "711" "0" "c.711C>T" "r.(?)" "p.(Asp237=)" "" "0000541073" "00025359" "30" "833" "0" "833" "0" "c.833T>C" "r.(?)" "p.(Phe278Ser)" "" "0000678927" "00025359" "30" "60" "0" "60" "0" "c.60G>A" "r.(?)" "p.(Arg20=)" "" "0000678928" "00025359" "30" "189" "0" "189" "0" "c.189T>C" "r.(?)" "p.(His63=)" "" "0000678929" "00025359" "10" "390" "2897" "390" "2897" "c.390+2897C>A" "r.(=)" "p.(=)" "" "0000684781" "00025359" "30" "811" "0" "811" "0" "c.811A>C" "r.(?)" "p.(Ile271Leu)" "" "0000764208" "00025359" "90" "316" "0" "316" "0" "c.316C>T" "r.(?)" "p.(Gln106*)" "4" "0000764209" "00025359" "90" "46" "0" "46" "0" "c.46C>T" "r.(?)" "p.(Arg16*)" "2" "0000764210" "00025359" "90" "4" "-14" "6" "0" "c.4-14_6delinsTACGGATAG" "r.4-26del" "p.Asn2_Met23del" "1i_2" "0000764211" "00025359" "90" "64" "0" "66" "0" "c.64_66del" "r.(?)" "p.(Gln22del)" "" "0000764212" "00025359" "50" "371" "0" "371" "0" "c.371A>G" "r.(?)" "p.(Asn124Ser)" "4" "0000764214" "00025359" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000764284" "00025359" "90" "390" "1" "390" "1" "c.390+1G>A" "r.spl" "p.0?" "4i" "0000889260" "00025359" "50" "-13" "0" "-13" "0" "c.-13A>C" "r.(?)" "p.(=)" "" "0000998545" "00025359" "50" "4" "-6" "4" "-6" "c.4-6T>A" "r.(=)" "p.(=)" "" "0000998546" "00025359" "30" "712" "0" "712" "0" "c.712G>A" "r.(?)" "p.(Gly238Ser)" "" "0001038040" "00025359" "10" "177" "0" "177" "0" "c.177A>G" "r.(?)" "p.(=)" "" "0001038041" "00025359" "10" "390" "123" "390" "125" "c.390+123_390+125del" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{variantid}}" "0000211833" "0000443463" "0000211860" "0000443492" "0000211867" "0000443499" "0000211927" "0000443561" "0000211993" "0000443630" "0000212002" "0000443642" "0000212015" "0000443656" "0000212034" "0000443675" "0000212099" "0000443742" "0000212100" "0000443743" "0000212101" "0000443744" "0000212108" "0000443751" "0000212113" "0000443756" "0000212114" "0000443757" "0000212115" "0000443758" "0000212228" "0000443871" "0000212229" "0000443872" "0000212230" "0000443873" "0000212231" "0000443874" "0000212232" "0000443875" "0000212233" "0000443876" "0000212234" "0000443877" "0000212235" "0000443878" "0000212236" "0000443879" "0000309879" "0000684781" "0000363511" "0000764208" "0000363512" "0000764209" "0000363513" "0000764210" "0000363514" "0000764211" "0000363515" "0000764212" "0000363516" "0000764214" "0000363585" "0000764284"