### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RPS17) # 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}}" "RPS17" "ribosomal protein S17" "15" "q" "unknown" "LRG_1143" "UD_132084431156" "" "https://www.LOVD.nl/RPS17" "" "1" "10397" "6218" "180472" "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/RPS17_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-04-20 16:57:52" "00000" "2022-11-01 13:41:49" ## 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}}" "00018198" "RPS17" "ribosomal protein S17" "001" "NM_001021.3" "" "NP_001012.1" "" "" "" "-29" "456" "408" "82824865" "82821161" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "03146" "DBA4" "anemia, Diamond-Blackfan, type 4 (DBA-4)" "AD" "612527" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "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}}" "RPS17" "03146" "RPS17" "05484" ## Individuals ## Do not remove or alter this header ## ## Count = 26 "{{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}}" "00210738" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA012" "00210746" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA020" "00210760" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA034" "00210788" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA062" "00210807" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA081" "00210813" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA087" "00210828" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA102" "00210879" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA153" "00210898" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA172" "00210922" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA196" "00210928" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA202" "00210963" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "DBA case, uunaffected parents" "" "" "" "" "0" "" "" "" "30503522-PatDBA237" "00211053" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "singleton DBA case" "" "" "" "" "0" "" "" "" "30503522-PatDBA327" "00211126" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel33" "00211127" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel34" "00211128" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel35" "00211129" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel36" "00211130" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel37" "00211131" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel38" "00211132" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel39" "00211133" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel40" "00211134" "" "" "" "1" "" "00006" "{PMID:Ulirsch 2018:30503522}" "" "" "" "" "" "0" "" "" "" "30503522-DBAputdel41" "00362274" "" "" "" "1" "" "00006" "{PMID:Gazda 2008:19061985}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat33" "00362275" "" "" "" "1" "" "00006" "{PMID:Cmelja 2007:17647292}" "2-generation family, 1 affected, unaffected non-carrier parents/relatives" "M" "" "Czech Republic" "" "0" "" "" "" "PatCZ02" "00362276" "" "" "" "1" "" "00006" "{PMID:Song 2010:19953637}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Korea" "" "0" "" "" "" "patient" "00362813" "" "" "" "1" "" "00006" "{PMID:Konno 2010:20378560}" "" "F" "" "Japan" "" "0" "" "" "" "Pat56" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 26 "{{individualid}}" "{{diseaseid}}" "00210738" "05484" "00210746" "05484" "00210760" "05484" "00210788" "05484" "00210807" "05484" "00210813" "05484" "00210828" "05484" "00210879" "05484" "00210898" "05484" "00210922" "05484" "00210928" "05484" "00210963" "05484" "00211053" "05484" "00211126" "05484" "00211127" "05484" "00211128" "05484" "00211129" "05484" "00211130" "05484" "00211131" "05484" "00211132" "05484" "00211133" "05484" "00211134" "05484" "00362274" "05484" "00362275" "05484" "00362276" "05484" "00362813" "05484" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 03146, 05484 ## Count = 17 "{{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}}" "0000159300" "05484" "00210738" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159308" "05484" "00210746" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159322" "05484" "00210760" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159350" "05484" "00210788" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159369" "05484" "00210807" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159375" "05484" "00210813" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159390" "05484" "00210828" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159441" "05484" "00210879" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159460" "05484" "00210898" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159484" "05484" "00210922" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159490" "05484" "00210928" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159525" "05484" "00210963" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000159615" "05484" "00211053" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" "0000257691" "05484" "00362274" "00006" "Isolated (sporadic)" "" "left thumb abnormality; responsive to first steroid therapy" "" "00y04m" "" "" "" "" "" "DBA4" "Diamond-Blackfan anemia" "0000257692" "05484" "00362275" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "DBA4" "Diamond-Blackfan anemia" "0000257693" "05484" "00362276" "00006" "Isolated (sporadic)" "00y14m" "see paper; ..., severe anemia" "" "" "" "" "" "" "" "DBA4" "Diamond-Blackfan anemia" "0000258183" "05484" "00362813" "00006" "Isolated (sporadic)" "" "see paper; ..." "1m" "" "" "" "" "" "" "" "Diamond-Blackfan anemia" ## Screenings ## Do not remove or alter this header ## ## Count = 26 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000211816" "00210738" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;PCRq;SEQ-NG" "DNA" "" "WES" "0000211824" "00210746" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;PCRq;SEQ-NG" "DNA" "" "WES" "0000211838" "00210760" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;PCRq;SEQ-NG" "DNA" "" "WES" "0000211866" "00210788" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211885" "00210807" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;PCRq;SEQ-NG" "DNA" "" "WES" "0000211891" "00210813" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;PCRq;SEQ-NG" "DNA" "" "WES" "0000211906" "00210828" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;PCRq;SEQ-NG" "DNA" "" "WES" "0000211957" "00210879" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000211976" "00210898" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212000" "00210922" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;PCRq;SEQ-NG" "DNA" "" "WES" "0000212006" "00210928" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;PCRq;SEQ-NG" "DNA" "" "WES" "0000212041" "00210963" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;PCRq;SEQ-NG" "DNA" "" "WES" "0000212131" "00211053" "1" "00006" "00006" "2018-12-30 11:30:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000212204" "00211126" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212205" "00211127" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212206" "00211128" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212207" "00211129" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212208" "00211130" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212209" "00211131" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212210" "00211132" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212211" "00211133" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000212212" "00211134" "1" "00006" "00006" "2018-12-30 14:27:10" "" "" "SEQ-NG" "DNA" "" "WES" "0000363503" "00362274" "1" "00006" "00006" "2021-04-20 17:04:46" "" "" "SEQ" "DNA" "" "" "0000363504" "00362275" "1" "00006" "00006" "2021-04-20 17:12:09" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000363505" "00362276" "1" "00006" "00006" "2021-04-20 17:22:51" "" "" "SEQ" "DNA" "" "" "0000364041" "00362813" "1" "00006" "00006" "2021-04-23 13:33:15" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{geneid}}" "0000211816" "RPS17" "0000211824" "RPS17" "0000211838" "RPS17" "0000211866" "RPS17" "0000211885" "RPS17" "0000211891" "RPS17" "0000211906" "RPS17" "0000211957" "RPS17" "0000211976" "RPS17" "0000212000" "RPS17" "0000212006" "RPS17" "0000212041" "RPS17" "0000212131" "RPS17" "0000212204" "RPS17" "0000212205" "RPS17" "0000212206" "RPS17" "0000212207" "RPS17" "0000212208" "RPS17" "0000212209" "RPS17" "0000212210" "RPS17" "0000212211" "RPS17" "0000212212" "RPS17" "0000363503" "RPS17" "0000363504" "RPS17" "0000363505" "RPS17" "0000364041" "RPS17" ## 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 = 29 "{{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}}" "0000248674" "0" "10" "15" "82823390" "82823390" "subst" "0" "02325" "RPS17_000002" "g.82823390A>G" "" "" "" "RPS17(NR_111943.2):n.481T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000297741" "0" "10" "15" "82822408" "82822408" "subst" "0" "02325" "RPS17_000001" "g.82822408C>G" "" "" "" "RPS17(NR_111944.3):n.399G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "benign" "" "0000443446" "1" "90" "15" "82821161" "82824865" "del" "0" "00006" "RPS17_000004" "g.(?_82821161)_(82824865_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000443454" "1" "90" "15" "82821161" "82824865" "del" "0" "00006" "RPS17_000004" "g.(?_82821161)_(82824865_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000443468" "1" "90" "15" "82821161" "82824865" "del" "0" "00006" "RPS17_000004" "g.(?_82821161)_(82824865_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000443498" "1" "90" "15" "82823349" "82823350" "del" "0" "00006" "RPS17_000008" "g.82823349_82823350del" "" "{PMID:Ulirsch 2018:30503522}" "" "g.82823348_82823349del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000443518" "1" "90" "15" "82821161" "82824865" "del" "0" "00006" "RPS17_000004" "g.(?_82821161)_(82824865_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000443524" "1" "90" "15" "82821161" "82824865" "del" "0" "00006" "RPS17_000004" "g.(?_82821161)_(82824865_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000443540" "1" "90" "15" "82821161" "82824865" "del" "0" "00006" "RPS17_000004" "g.(?_82821161)_(82824865_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000443592" "1" "90" "15" "82824477" "82824479" "delins" "0" "00006" "RPS17_000009" "g.82824477_82824479delinsAA" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000443611" "1" "90" "15" "82821161" "82824865" "del" "0" "00006" "RPS17_000004" "g.(?_82821161)_(82824865_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000443640" "1" "90" "15" "82821161" "82824865" "del" "0" "00006" "RPS17_000004" "g.(?_82821161)_(82824865_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000443647" "1" "90" "15" "82821161" "82824865" "del" "0" "00006" "RPS17_000004" "g.(?_82821161)_(82824865_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000443682" "1" "90" "15" "82821161" "82824865" "del" "0" "00006" "RPS17_000004" "g.(?_82821161)_(82824865_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000443774" "1" "90" "15" "82821161" "82824865" "del" "0" "00006" "RPS17_000004" "g.(?_82821161)_(82824865_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000443847" "0" "70" "15" "82821114" "82821341" "del" "0" "00006" "RPS17_000003" "g.(?_82821114)_(82821341_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443848" "0" "70" "15" "82821207" "82821291" "del" "0" "00006" "RPS17_000005" "g.(?_82821207)_(82821291_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443849" "0" "70" "15" "82821207" "82821291" "del" "0" "00006" "RPS17_000005" "g.(?_82821207)_(82821291_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443850" "0" "70" "15" "82821207" "82821291" "del" "0" "00006" "RPS17_000005" "g.(?_82821207)_(82821291_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443851" "0" "70" "15" "82821207" "82821291" "del" "0" "00006" "RPS17_000005" "g.(?_82821207)_(82821291_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443852" "0" "70" "15" "82822712" "82822781" "del" "0" "00006" "RPS17_000006" "g.(?_82822712)_(82822781_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443853" "0" "70" "15" "82823286" "82823395" "del" "0" "00006" "RPS17_000007" "g.(?_82823286)_(82823395_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443854" "0" "70" "15" "82823286" "82823395" "del" "0" "00006" "RPS17_000007" "g.(?_82823286)_(82823395_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000443855" "0" "70" "15" "82823286" "82823395" "del" "0" "00006" "RPS17_000007" "g.(?_82823286)_(82823395_?)del" "" "{PMID:Ulirsch 2018:30503522}" "" "" "putative deletion detected by WES CNV analysis" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000764200" "0" "90" "15" "82823349" "82823350" "del" "0" "00006" "RPS17_000008" "g.82823349_82823350del" "" "{PMID:Gazda 2008:19061985}" "" "200_201delGA" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000764201" "0" "90" "15" "82824835" "82824835" "subst" "0" "00006" "RPS17_000010" "g.82824835A>C" "" "{PMID:Cmelja 2007:17647292}" "" "" "RNA reduced stability" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000764202" "0" "90" "15" "82824836" "82824836" "subst" "0" "00006" "RPS17_000011" "g.82824836T>C" "" "{PMID:Song 2010:19953637}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000764751" "0" "90" "15" "82824518" "82824518" "del" "0" "00006" "RPS17_000012" "g.82824518del" "" "{PMID:Konno 2010:20378560}" "" "26delT" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000892304" "0" "10" "15" "82824702" "82824702" "subst" "0" "02326" "RPS17_000013" "g.82824702G>C" "" "" "" "RPS17(NR_111943.2):n.164C>G" "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 RPS17 ## Count = 29 "{{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}}" "0000248674" "00018198" "10" "159" "0" "159" "0" "c.159T>C" "r.(?)" "p.(Tyr53=)" "" "0000297741" "00018198" "10" "327" "306" "327" "306" "c.327+306G>C" "r.(=)" "p.(=)" "" "0000443446" "00018198" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000443454" "00018198" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000443468" "00018198" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000443498" "00018198" "90" "201" "0" "202" "0" "c.201_202del" "r.(?)" "p.(Gly68Tyrfs*19)" "" "0000443518" "00018198" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000443524" "00018198" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000443540" "00018198" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000443592" "00018198" "90" "65" "0" "67" "0" "c.65_67delinsTT" "r.(?)" "p.(Thr22Ilefs*29)" "" "0000443611" "00018198" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000443640" "00018198" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000443647" "00018198" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000443682" "00018198" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000443774" "00018198" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000443847" "00018198" "70" "328" "-52" "503" "0" "c.(?_328-52)_(*95_?)del" "r.?" "p.?" "" "0000443848" "00018198" "70" "328" "-2" "410" "0" "c.(?_328-2)_(*2_?)del" "r.?" "p.?" "" "0000443849" "00018198" "70" "328" "-2" "410" "0" "c.(?_328-2)_(*2_?)del" "r.?" "p.?" "" "0000443850" "00018198" "70" "328" "-2" "410" "0" "c.(?_328-2)_(*2_?)del" "r.?" "p.?" "" "0000443851" "00018198" "70" "328" "-2" "410" "0" "c.(?_328-2)_(*2_?)del" "r.?" "p.?" "" "0000443852" "00018198" "70" "262" "-2" "327" "2" "c.(?_262-2)_(327+2_?)del" "r.?" "p.?" "" "0000443853" "00018198" "70" "156" "-2" "261" "2" "c.(?_156-2)_(261+2_?)del" "r.?" "p.?" "" "0000443854" "00018198" "70" "156" "-2" "261" "2" "c.(?_156-2)_(261+2_?)del" "r.?" "p.?" "" "0000443855" "00018198" "70" "156" "-2" "261" "2" "c.(?_156-2)_(261+2_?)del" "r.?" "p.?" "" "0000764200" "00018198" "90" "201" "0" "202" "0" "c.201_202del" "r.(?)" "p.(Gly68Tyrfs*19)" "" "0000764201" "00018198" "90" "2" "0" "2" "0" "c.2T>G" "r.2u>g" "p.Met1?" "" "0000764202" "00018198" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.Met1?" "1" "0000764751" "00018198" "90" "26" "0" "26" "0" "c.26del" "r.(?)" "p.(Val9GlyfsTer9)" "2" "0000892304" "00018198" "10" "3" "132" "3" "132" "c.3+132C>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{variantid}}" "0000211816" "0000443446" "0000211824" "0000443454" "0000211838" "0000443468" "0000211866" "0000443498" "0000211885" "0000443518" "0000211891" "0000443524" "0000211906" "0000443540" "0000211957" "0000443592" "0000211976" "0000443611" "0000212000" "0000443640" "0000212006" "0000443647" "0000212041" "0000443682" "0000212131" "0000443774" "0000212204" "0000443847" "0000212205" "0000443848" "0000212206" "0000443849" "0000212207" "0000443850" "0000212208" "0000443851" "0000212209" "0000443852" "0000212210" "0000443853" "0000212211" "0000443854" "0000212212" "0000443855" "0000363503" "0000764200" "0000363504" "0000764201" "0000363505" "0000764202" "0000364041" "0000764751"